)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GCAGCGCCTGCTGAGCCAGCT	0.662																																						ENST00000396864.3																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(814-816)Ctg>Ttg		interferon regulatory factor 9							48	48	48					14																	24633987		2203	4300	6503	SO:0001819	synonymous_variant	10379				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	g.chr14:24633987C>T	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"interferon-stimulated transcription factor 3, gamma (48kD)", "interferon-stimulated transcription factor 3, gamma 48kDa"	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.814C>T	14.37:g.24633987C>T						IRF9_ENST00000557894.1_Silent_p.L170L|RP11-468E2.4_ENST00000558468.1_3'UTR	p.L272L	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	7	1101	+			272					D3DS61	Silent	SNP	ENST00000396864.3	37	c.814C>T	CCDS9615.1																																																																																				0.662	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			26	30	0	0	0	1	0	26	30					T	24633987	C	T	24633987	2	4	435	1	0	0	0	0	0	0	0	1	7837	796	28	3		3	IRF9	14	24633987	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7187	24633987	82715553	6166	27091											
TM9SF1	10548	broad.mit.edu	37	chr14	24658773	24658773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccagacatgttggagcGccgggcataatagaaaactg	12	7	12	10	2	0	2	0	0	0	2	0	3	0	3	3	2	3	2	3	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24658773G>A	ENST00000261789.4	-	6	2027	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C	IPO4_ENST00000354464.6_5'Flank|RP11-468E2.2_ENST00000561419.1_Silent_p.G93G|TM9SF1_ENST00000528669.1_Missense_Mutation_p.R540C|TM9SF1_ENST00000524835.1_Missense_Mutation_p.R470C|TM9SF1_ENST00000556387.1_Missense_Mutation_p.R766C|TM9SF1_ENST00000530611.1_Missense_Mutation_p.R766C	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	557					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		ATGTTGGAGCGCCGGGCATAA	0.522																																						ENST00000556387.1																			0				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24						c.(2296-2298)Cgc>Tgc		transmembrane 9 superfamily member 1							72	76	75					14																	24658773		2203	4300	6503	SO:0001583	missense	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24658773G>A	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1669C>T	14.37:g.24658773G>A	ENSP00000261789:p.Arg557Cys					RP11-468E2.2_ENST00000561419.1_Silent_p.G93G|TM9SF1_ENST00000528669.1_Missense_Mutation_p.R540C|TM9SF1_ENST00000530611.1_Missense_Mutation_p.R766C|TM9SF1_ENST00000261789.4_Missense_Mutation_p.R557C|TM9SF1_ENST00000524835.1_Missense_Mutation_p.R470C	p.R766C			O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	10	2329	-			557					D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	c.2296C>T	CCDS9617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.134861|5.134861	0.94517|0.94517	.|.	.|.	ENSG00000100926|ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000532632|ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000530611	T|T;T;T;T;T	0.53423|0.46063	0.62|0.88;0.88;0.88;0.88;0.88	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73713|0.73713	0.3622|0.3622	M|M	0.92738|0.92738	3.34|3.34	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.72625	.|0.978	T|T	0.78899|0.78899	-0.2022|-0.2022	7|10	0.87932|0.87932	D|D	0|0	-13.7282|-13.7282	18.3732|18.3732	0.90420|0.90420	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|557	.|O15321	.|TM9S1_HUMAN	V|C	124|557;540;766;470;766	ENSP00000436486:A124V|ENSP00000261789:R557C;ENSP00000432997:R540C;ENSP00000451949:R766C;ENSP00000434387:R470C;ENSP00000433967:R766C	ENSP00000436486:A124V|ENSP00000433967:R766C	A|R	-|-	2|1	0|0	TM9SF1|TM9SF1;RP11-468E2.1	23728613|23728613	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.990000|0.990000	0.78478|0.78478	8.241000|8.241000	0.89816|0.89816	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.522	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		12	26	0	0	0	1	0	12	26					A	24658773	G	A	24658773	3	1	435	1	0	0	0	0	1	0	0	0	15974	1087	38	1	155	1	TM9SF1	14	24658773	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24786	24658773	82690767	6167	27092											
ADCY4	196883	broad.mit.edu	37	chr14	24791325	24791325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacgtgtgcagggagcaCgttctccaagagcagccgag	9	5	15	12	3	1	1	0	0	1	1	2	3	1	2	3	2	4	4	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24791325C>T	ENST00000310677.4	-	21	2646	c.2533G>A	c.(2533-2535)Gtg>Atg	p.V845M	ADCY4_ENST00000418030.2_Missense_Mutation_p.V845M|ADCY4_ENST00000554068.2_Missense_Mutation_p.V845M	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	845					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCAGGGAGCACGTTCTCCAAG	0.612																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2533-2535)Gtg>Atg		adenylate cyclase 4							135	117	124					14																	24791325		2203	4300	6503	SO:0001583	missense	196883				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	g.chr14:24791325C>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2533G>A	14.37:g.24791325C>T	ENSP00000312126:p.Val845Met					ADCY4_ENST00000418030.2_Missense_Mutation_p.V845M|ADCY4_ENST00000554068.2_Missense_Mutation_p.V845M	p.V845M	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	21	2646	-			845					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.2533G>A	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922070	0.92319	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.76839	-1.05;-1.05;-1.05	5.16	5.16	0.70880	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.45126	D	0.000392	T	0.76004	0.3927	L	0.55990	1.75	0.80722	D	1	P	0.52170	0.951	B	0.44133	0.442	T	0.77496	-0.2566	10	0.44086	T	0.13	.	16.1933	0.82006	0.0:1.0:0.0:0.0	.	845	Q8NFM4	ADCY4_HUMAN	M	845	ENSP00000312126:V845M;ENSP00000452250:V845M;ENSP00000393177:V845M	ENSP00000312126:V845M	V	-	1	0	ADCY4	23861165	1.000000	0.71417	0.978000	0.43139	0.978000	0.69477	5.862000	0.69560	2.696000	0.92011	0.655000	0.94253	GTG		0.612	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			52	62	0	0	0	1	0	52	62					T	24791325	C	T	24791325	3	4	435	1	0	0	0	0	1	0	0	0	296	536	19	1	724	1	ADCY4	14	24791325	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	132552	24791325	82558215	6168	27093											
CBLN3	643866	broad.mit.edu	37	chr14	24897110	24897110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaagggcagtagcacaGagctggtggctgcctcccgg	7	6	16	12	1	0	1	0	0	0	1	2	1	2	1	3	5	3	5	3	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24897110G>T	ENST00000267406.6	-	3	973	c.503C>A	c.(502-504)tCt>tAt	p.S168Y	CBLN3_ENST00000555436.1_Missense_Mutation_p.S117Y|KHNYN_ENST00000251343.5_5'Flank|KHNYN_ENST00000556842.1_5'Flank|KHNYN_ENST00000553935.1_5'Flank	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	168	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.					cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		CAGTAGCACAGAGCTGGTGGC	0.607																																						ENST00000267406.6																			0				central_nervous_system(1)|lung(3)	4						c.(502-504)tCt>tAt		cerebellin 3 precursor							97	97	97					14																	24897110		2203	4300	6503	SO:0001583	missense	643866					cell junction|extracellular region|synapse		g.chr14:24897110G>T	AY359070	CCDS32057.1	14q12	2006-12-13				ENSG00000139899			20146	protein-coding gene	gene with protein product		612978				12975309	Standard	NM_001039771		Approved		uc001wpg.4	Q6UW01		ENST00000267406.6:c.503C>A	14.37:g.24897110G>T	ENSP00000267406:p.Ser168Tyr					CBLN3_ENST00000555436.1_Missense_Mutation_p.S117Y	p.S168Y	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN		GBM - Glioblastoma multiforme(265;0.00159)	3	973	-			168			C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).			Missense_Mutation	SNP	ENST00000267406.6	37	c.503C>A	CCDS32057.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673960	0.67928	.	.	ENSG00000139899	ENST00000267406;ENST00000555436	T;T	0.78126	-1.15;-1.15	5.62	4.72	0.59763	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.138755	0.33753	N	0.004596	D	0.89364	0.6694	M	0.92970	3.365	0.32725	N	0.509726	D	0.69078	0.997	D	0.64506	0.926	D	0.93239	0.6624	10	0.72032	D	0.01	-17.5112	12.8565	0.57888	0.0:0.3143:0.6857:0.0	.	168	Q6UW01	CBLN3_HUMAN	Y	168;117	ENSP00000267406:S168Y;ENSP00000450935:S117Y	ENSP00000267406:S168Y	S	-	2	0	CBLN3	23966950	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.937000	0.48979	1.355000	0.45865	0.561000	0.74099	TCT		0.607	CBLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412943.1	XM_115232		28	46	1	0	2.65835e-16	1	2.91848e-16	28	46					T	24897110	G	T	24897110	3	4	435	1	0	0	0	0	1	0	0	0	2706	942	33	5	118	5	CBLN3	14	24897110	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	105785	24897110	82452430	6169	27094											
KHNYN	23351	broad.mit.edu	37	chr14	24900107	24900107	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacatctggctgcagctggaGggccccaaggaaaacgccag	11	4	13	13	1	1	0	0	0	1	0	1	2	1	2	3	4	3	3	3	4	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24900107G>T	ENST00000251343.5	+	2	310	c.171G>T	c.(169-171)gaG>gaT	p.E57D	CBLN3_ENST00000555436.1_5'UTR|KHNYN_ENST00000554268.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000556842.1_Missense_Mutation_p.E57D|KHNYN_ENST00000553935.1_Missense_Mutation_p.E57D			O15037	KHNYN_HUMAN	KH and NYN domain containing	57							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TGCAGCTGGAGGGCCCCAAGG	0.647																																						ENST00000251343.5																			0				kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.(169-171)gaG>gaT		KH and NYN domain containing							44	44	44					14																	24900107		2203	4300	6503	SO:0001583	missense	23351							g.chr14:24900107G>T	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.171G>T	14.37:g.24900107G>T	ENSP00000251343:p.Glu57Asp					CBLN3_ENST00000555436.1_5'UTR|KHNYN_ENST00000556842.1_Missense_Mutation_p.E57D|KHNYN_ENST00000553935.1_Missense_Mutation_p.E57D	p.E57D			O15037	KHNYN_HUMAN			2	310	+			57					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.171G>T	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557623	0.86231	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935;ENST00000556510	T;T;T	0.24908	1.83;1.83;1.83	5.34	3.51	0.40186	.	0.296773	0.29410	N	0.012235	T	0.31482	0.0798	L	0.57536	1.79	0.80722	D	1	D;D	0.58268	0.982;0.982	P;P	0.51777	0.679;0.679	T	0.02893	-1.1097	10	0.34782	T	0.22	.	7.2952	0.26389	0.2688:0.0:0.7312:0.0	.	98;57	D3DS77;O15037	.;KHNYN_HUMAN	D	57	ENSP00000251343:E57D;ENSP00000451106:E57D;ENSP00000450799:E57D	ENSP00000251343:E57D	E	+	3	2	KHNYN	23969947	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.183000	0.32041	0.638000	0.30545	0.549000	0.68633	GAG		0.647	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			9	9	1	0	0.000274275	1	0.000279654	9	9					T	24900107	G	T	24900107	3	4	435	1	0	0	0	0	1	0	0	0	8150	991	35	5	173	5	KHNYN	14	24900107	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2997	24900107	82449433	6170	27095											
SDR39U1	23351	broad.mit.edu	37	chr14	24909614	24909614	+	3'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaggggaagaattggtggCctgagccgatggggcccccc	7	6	16	12	1	0	2	0	1	0	1	1	4	1	3	6	6	1	0	6	6	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24909614C>T	ENST00000251343.5	+	0	5299				SDR39U1_ENST00000538105.2_Missense_Mutation_p.G104D|SDR39U1_ENST00000554698.1_Missense_Mutation_p.G78D|SDR39U1_ENST00000399390.1_Missense_Mutation_p.G91D|SDR39U1_ENST00000555561.1_5'UTR|SDR39U1_ENST00000553930.1_Missense_Mutation_p.G61D|SDR39U1_ENST00000555365.1_Missense_Mutation_p.G19D|SDR39U1_ENST00000399395.3_Missense_Mutation_p.G186D			O15037	KHNYN_HUMAN	KH and NYN domain containing								RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAATTGGTGGCCTGAGCCGAT	0.637																																						ENST00000554698.1																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						c.(232-234)gGc>gAc		short chain dehydrogenase/reductase family 39U, member 1							21	24	23					14																	24909614		1923	4139	6062	SO:0001624	3_prime_UTR_variant	56948						binding	g.chr14:24909614C>T	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.*3123C>T	14.37:g.24909614C>T						KHNYN_ENST00000251343.5_3'UTR|SDR39U1_ENST00000399395.3_Missense_Mutation_p.G186D|SDR39U1_ENST00000555561.1_5'UTR|SDR39U1_ENST00000538105.2_Missense_Mutation_p.G104D|SDR39U1_ENST00000399390.1_Missense_Mutation_p.G91D|SDR39U1_ENST00000553930.1_Missense_Mutation_p.G61D|SDR39U1_ENST00000555365.1_Missense_Mutation_p.G19D	p.G78D			Q9NRG7	D39U1_HUMAN			4	740	-			212					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.233G>A	CCDS32058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.741003|4.741003	0.89573|0.89573	.|.	.|.	ENSG00000100445|ENSG00000100445	ENST00000556249|ENST00000399395;ENST00000336353;ENST00000399390;ENST00000553930;ENST00000538105;ENST00000554698;ENST00000555365;ENST00000553343;ENST00000555225;ENST00000555355;ENST00000556523	.|D;T;T;T;T;T;T;T;T;T	.|0.97089	.|-4.24;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03	4.9|4.9	4.9|4.9	0.64082|0.64082	.|NAD(P)-binding domain (1);	.|0.055023	.|0.64402	.|N	.|0.000001	D|D	0.99108|0.99108	0.9693|0.9693	H|H	0.98466|0.98466	4.24|4.24	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0	D|D	0.98871|0.98871	1.0766|1.0766	5|10	.|0.87932	.|D	.|0	-17.4798|-17.4798	15.607|15.607	0.76682|0.76682	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|61;186;212;104;78	.|G3V5T1;Q9NRG7-2;Q9NRG7;F6RWC2;Q86TZ5	.|.;.;D39U1_HUMAN;.;.	T|D	109|186;212;91;61;104;78;19;80;19;61;19	.|ENSP00000382327:G186D;ENSP00000382322:G91D;ENSP00000452499:G61D;ENSP00000446077:G104D;ENSP00000452438:G78D;ENSP00000451903:G19D;ENSP00000452076:G80D;ENSP00000451593:G19D;ENSP00000450946:G61D;ENSP00000451275:G19D	.|ENSP00000336854:G212D	A|G	-|-	1|2	0|0	SDR39U1|SDR39U1	23979454|23979454	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.149000|7.149000	0.77396|0.77396	2.543000|2.543000	0.85770|0.85770	0.563000|0.563000	0.77884|0.77884	GCC|GGC		0.637	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			6	12	0	0	0	1	0	6	12					T	24909614	C	T	24909614	1	4	435	0	1	0	0	0	0	0	0	0	13972	739	26	3		3	SDR39U1	14	24909614	3'UTR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9507	24909614	82439926	6171	27096											
STXBP6	29091	broad.mit.edu	37	chr14	25288249	25288249	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctcttggcccaccttgtgCgcagtttctgcaaactgctg	5	13	9	14	1	2	0	0	0	2	0	3	0	2	0	2	1	4	4	2	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:25288249C>T	ENST00000323944.5	-	5	1054	c.603G>A	c.(601-603)gcG>gcA	p.A201A	STXBP6_ENST00000396700.1_Silent_p.A201A|STXBP6_ENST00000550887.1_Silent_p.A201A|STXBP6_ENST00000548724.1_Silent_p.A201A|STXBP6_ENST00000546511.1_Silent_p.A201A|STXBP6_ENST00000548369.1_Silent_p.A99A|STXBP6_ENST00000358326.2_Silent_p.A201A|STXBP6_ENST00000419632.2_Silent_p.A201A			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	201	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		CCACCTTGTGCGCAGTTTCTG	0.532																																						ENST00000323944.5																			0				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7						c.(601-603)gcG>gcA		syntaxin binding protein 6 (amisyn)							115	106	109					14																	25288249		2203	4300	6503	SO:0001819	synonymous_variant	0				vesicle-mediated transport	cytoplasm|integral to membrane		g.chr14:25288249C>T	AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952			19666	protein-coding gene	gene with protein product		607958				12145319	Standard	NM_014178		Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.603G>A	14.37:g.25288249C>T						STXBP6_ENST00000550887.1_Silent_p.A201A|STXBP6_ENST00000358326.2_Silent_p.A201A|STXBP6_ENST00000419632.2_Silent_p.A201A|STXBP6_ENST00000546511.1_Silent_p.A201A|STXBP6_ENST00000548369.1_Silent_p.A99A|STXBP6_ENST00000548724.1_Silent_p.A201A|STXBP6_ENST00000396700.1_Silent_p.A201A	p.A201A			Q8NFX7	STXB6_HUMAN		GBM - Glioblastoma multiforme(265;0.0296)	5	1054	-			201			v-SNARE coiled-coil homology.		D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Silent	SNP	ENST00000323944.5	37	c.603G>A	CCDS9634.1																																																																																				0.532	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1			23	45	0	0	0	1	0	23	45					T	25288249	C	T	25288249	2	4	435	1	0	0	0	0	0	0	0	1	15357	755	27	1		1	STXBP6	14	25288249	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	378635	25288249	82061291	6172	27097											
NOVA1	4857	broad.mit.edu	37	chr14	26917902	26917902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccggttggattggaatttgCcactggacctgtcacattgg	7	13	12	9	1	1	0	1	0	0	0	2	3	2	3	3	5	1	1	3	5	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:26917902C>T	ENST00000539517.2	-	5	1104	c.787G>A	c.(787-789)Gca>Aca	p.A263T	NOVA1_ENST00000465357.2_Missense_Mutation_p.A239T|NOVA1_ENST00000267422.7_Missense_Mutation_p.A141T	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	266					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			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)		TTGGAATTTGCCACTGGACCT	0.463																																						ENST00000539517.2																			0				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						c.(787-789)Gca>Aca		neuro-oncological ventral antigen 1							182	164	170					14																	26917902		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917902C>T	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.787G>A	14.37:g.26917902C>T	ENSP00000438875:p.Ala263Thr					NOVA1_ENST00000465357.2_Missense_Mutation_p.A239T|NOVA1_ENST00000267422.7_Missense_Mutation_p.A141T	p.A263T	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1104	-			266					A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.787G>A	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453782	0.84209	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198	T;T;T;T	0.37584	1.25;1.21;1.19;1.38	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.58235	0.2108	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.996	D;D;D	0.76071	0.987;0.956;0.981	T	0.48007	-0.9072	10	0.14252	T	0.57	-3.2551	19.8956	0.96956	0.0:1.0:0.0:0.0	.	266;239;263	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	T	239;263;141;222	ENSP00000447391:A239T;ENSP00000438875:A263T;ENSP00000267422:A141T;ENSP00000408914:A222T	ENSP00000267422:A141T	A	-	1	0	NOVA1	25987742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.783000	0.85696	2.708000	0.92522	0.563000	0.77884	GCA		0.463	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		30	46	0	0	0	1	0	30	46					T	26917902	C	T	26917902	3	4	435	1	0	0	0	0	1	0	0	0	10554	739	26	3	740	3	NOVA1	14	26917902	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1629653	26917902	80431638	6173	27098											
NOVA1	4857	broad.mit.edu	37	chr14	26949206	26949206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgatgcgatctggattaaCggtggtctggggttgtagaa	8	14	15	4	2	2	2	0	1	2	1	2	4	2	3	0	5	2	2	0	5	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:26949206C>T	ENST00000344429.5	-	3	427	c.424G>A	c.(424-426)Gtt>Att	p.V142I	NOVA1_ENST00000465357.2_Missense_Mutation_p.V142I|NOVA1_ENST00000539517.2_Missense_Mutation_p.V142I|NOVA1_ENST00000267422.7_Missense_Mutation_p.V20I|NOVA1_ENST00000574031.1_Missense_Mutation_p.V142I|NOVA1_ENST00000547619.1_Missense_Mutation_p.V142I	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	145					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			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)		TCTGGATTAACGGTGGTCTGG	0.398																																						ENST00000539517.2																			0				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						c.(424-426)Gtt>Att		neuro-oncological ventral antigen 1							220	187	198					14																	26949206		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26949206C>T	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.424G>A	14.37:g.26949206C>T	ENSP00000342387:p.Val142Ile					NOVA1_ENST00000465357.2_Missense_Mutation_p.V142I|NOVA1_ENST00000547619.1_Missense_Mutation_p.V142I|NOVA1_ENST00000344429.5_Missense_Mutation_p.V142I|NOVA1_ENST00000267422.7_Missense_Mutation_p.V20I|NOVA1_ENST00000574031.1_Missense_Mutation_p.V142I	p.V142I	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	3	741	-			145					A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000344429.5	37	c.424G>A	CCDS9635.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755664	0.69648	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476;ENST00000549146;ENST00000549571;ENST00000344429;ENST00000547619	T;T;T;T;T;T;T;T;T	0.63417	-0.04;1.47;1.42;1.52;-0.04;0.92;0.97;0.91;0.84	5.61	5.61	0.85477	.	0.205916	0.34067	N	0.004299	T	0.63022	0.2476	N	0.14661	0.345	0.54753	D	0.999985	B;B;D;D	0.57899	0.326;0.293;0.968;0.981	B;B;P;P	0.62184	0.05;0.015;0.796;0.899	T	0.58624	-0.7604	10	0.16896	T	0.51	-28.7915	19.6334	0.95719	0.0:1.0:0.0:0.0	.	142;145;142;142	P51513-2;P51513;D3DS81;P51513-4	.;NOVA1_HUMAN;.;.	I	142;142;20;101;20;20;105;142;142	ENSP00000447391:V142I;ENSP00000438875:V142I;ENSP00000267422:V20I;ENSP00000408914:V101I;ENSP00000299472:V20I;ENSP00000449113:V20I;ENSP00000449185:V105I;ENSP00000342387:V142I;ENSP00000448157:V142I	ENSP00000267422:V20I	V	-	1	0	NOVA1	26019046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.629000	0.89072	0.585000	0.79938	GTT		0.398	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491		38	86	0	0	0	1	0	38	86					T	26949206	C	T	26949206	3	4	435	1	0	0	0	0	1	0	0	0	10554	536	19	1	1142	1	NOVA1	14	26949206	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31304	26949206	80400334	6174	27099											
FOXG1	2290	broad.mit.edu	37	chr14	29237798	29237798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgtccatgagcgccagggCcgcgtcctcctccacgtcgc	5	6	11	19	6	0	1	0	1	0	0	5	1	4	1	6	1	1	0	6	1	0	0	rs376242569		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:29237798C>T	ENST00000313071.4	+	1	1512	c.1313C>T	c.(1312-1314)gCc>gTc	p.A438V	FOXG1_ENST00000382535.3_Missense_Mutation_p.A438V	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	438					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGCGCCAGGGCCGCGTCCTCC	0.632																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(1312-1314)gCc>gTc		forkhead box G1		C	VAL/ALA	0,4406		0,0,2203	64	59	61		1313	4.1	1	14		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	FOXG1	NM_005249.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	438/490	29237798	1,13005	2203	4300	6503	SO:0001583	missense	2290				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	g.chr14:29237798C>T		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1313C>T	14.37:g.29237798C>T	ENSP00000339004:p.Ala438Val					FOXG1_ENST00000313071.4_Missense_Mutation_p.A438V	p.A438V			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	1682	+			438					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.1313C>T	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165290	0.57476	0.0	1.16E-4	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93953	-3.32;-3.32	4.14	4.14	0.48551	.	0.137858	0.45867	U	0.000336	D	0.92166	0.7516	N	0.08118	0	0.58432	D	0.999998	D	0.76494	0.999	D	0.78314	0.991	D	0.93323	0.6694	10	0.42905	T	0.14	.	16.7792	0.85559	0.0:1.0:0.0:0.0	.	438	P55316	FOXG1_HUMAN	V	438	ENSP00000371975:A438V;ENSP00000339004:A438V	ENSP00000339004:A438V	A	+	2	0	FOXG1	28307549	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.737000	0.68606	2.006000	0.58801	0.491000	0.48974	GCC		0.632	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			24	31	0	0	0	1	0	24	31					T	29237798	C	T	29237798	3	4	435	1	0	0	0	0	1	0	0	0	6007	739	26	3	1315	3	FOXG1	14	29237798	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2288592	29237798	78111742	6175	27100											
SCFD1	23256	broad.mit.edu	37	chr14	31188567	31188567	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatattttgatcccaaaatgCtgcggggcaatgacaggtaa	13	10	11	7	1	0	2	0	2	0	0	1	3	1	2	1	3	2	3	1	3	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:31188567C>T	ENST00000458591.2	+	21	1947	c.1720C>T	c.(1720-1722)Ctg>Ttg	p.L574L	SCFD1_ENST00000396629.2_Silent_p.L482L|SCFD1_ENST00000421551.3_Silent_p.L515L|SCFD1_ENST00000544052.2_Silent_p.L507L|SCFD1_ENST00000541123.1_Silent_p.L389L	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	574					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TCCCAAAATGCTGCGGGGCAA	0.338																																						ENST00000458591.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13						c.(1720-1722)Ctg>Ttg		sec1 family domain containing 1							109	124	119					14																	31188567		2203	4300	6503	SO:0001819	synonymous_variant	23256				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	g.chr14:31188567C>T	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 163"	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1720C>T	14.37:g.31188567C>T						SCFD1_ENST00000544052.2_Silent_p.L507L|SCFD1_ENST00000421551.3_Silent_p.L515L|SCFD1_ENST00000396629.2_Silent_p.L482L|SCFD1_ENST00000541123.1_Silent_p.L389L	p.L574L	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	21	1947	+	Hepatocellular(127;0.0877)		574					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Silent	SNP	ENST00000458591.2	37	c.1720C>T	CCDS9639.1																																																																																				0.338	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		26	41	0	0	0	1	0	26	41					T	31188567	C	T	31188567	2	4	435	1	0	0	0	0	0	0	0	1	13889	796	28	3		3	SCFD1	14	31188567	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1950769	31188567	76160973	6176	27101											
COCH	1690	broad.mit.edu	37	chr14	31355287	31355287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacagtttacttatgatcagCgcacggagttcagtttcact	10	14	8	9	2	3	1	3	1	0	0	3	2	3	2	0	1	3	4	0	1	3	6	rs367884240		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:31355287C>T	ENST00000396618.3	+	11	1302	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C	RP11-829H16.3_ENST00000468444.2_RNA|RP11-829H16.3_ENST00000556786.1_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.R267C|COCH_ENST00000460581.2_Missense_Mutation_p.R304C|COCH_ENST00000475087.1_Missense_Mutation_p.R416C|COCH_ENST00000216361.4_Missense_Mutation_p.R416C|RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000555421.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	416	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	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)		TTATGATCAGCGCACGGAGTT	0.443																																						ENST00000460581.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19						c.(910-912)Cgc>Tgc		cochlin		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	138	119	125		1246,1246	6	1	14		125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	COCH	NM_001135058.1,NM_004086.2	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	416/551,416/551	31355287	1,13005	2203	4300	6503	SO:0001583	missense	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31355287C>T		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"coagulation factor C (Limulus polyphemus homolog); cochlin", "coagulation factor C homolog, cochlin (Limulus polyphemus)"	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1246C>T	14.37:g.31355287C>T	ENSP00000379862:p.Arg416Cys					COCH_ENST00000475087.1_Missense_Mutation_p.R416C|COCH_ENST00000216361.4_Missense_Mutation_p.R416C|COCH_ENST00000396618.3_Missense_Mutation_p.R416C|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.R267C	p.R304C			O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	9	1456	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		416			VWFA 1.		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	c.910C>T	CCDS9640.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862107	0.71949	0.0	1.16E-4	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000460581;ENST00000382493	D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85	6.02	6.02	0.97574	von Willebrand factor, type A (3);	0.044348	0.85682	D	0.000000	D	0.94245	0.8152	M	0.93062	3.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.91635	0.999;0.999;0.781	D	0.94934	0.8085	10	0.87932	D	0	-3.1287	16.763	0.85517	0.1295:0.8705:0.0:0.0	.	267;416;416	E7EN67;Q96IU6;O43405	.;.;COCH_HUMAN	C	416;416;416;304;267	ENSP00000216361:R416C;ENSP00000379862:R416C;ENSP00000451528:R416C;ENSP00000451713:R304C;ENSP00000371933:R267C	ENSP00000216361:R416C	R	+	1	0	COCH	30425038	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.405000	0.44548	2.850000	0.98022	0.650000	0.86243	CGC		0.443	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		43	69	0	0	0	1	0	43	69					T	31355287	C	T	31355287	3	4	435	1	0	0	0	0	1	0	0	0	3656	768	27	1	1284	1	COCH	14	31355287	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	166720	31355287	75994253	6177	27102											
HECTD1	25831	broad.mit.edu	37	chr14	31578798	31578798	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtcggttctgtaaccatacTattgctctgaaatagaaaaa	14	12	7	8	2	2	2	0	1	2	1	3	2	2	2	1	1	3	3	1	1	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:31578798T>C	ENST00000399332.1	-	36	6773	c.6285A>G	c.(6283-6285)atA>atG	p.I2095M	HECTD1_ENST00000553700.1_Missense_Mutation_p.I2095M	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2095	K-box.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			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)		GTAACCATACTATTGCTCTGA	0.418																																						ENST00000399332.1																			0				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						c.(6283-6285)atA>atG		HECT domain containing E3 ubiquitin protein ligase 1							56	55	55					14																	31578798		1931	4148	6079	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31578798T>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6285A>G	14.37:g.31578798T>C	ENSP00000382269:p.Ile2095Met					HECTD1_ENST00000553700.1_Missense_Mutation_p.I2095M	p.I2095M	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	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)	36	6773	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2095			K-box.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.6285A>G	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.11|16.11	3.031103|3.031103	0.54790|0.54790	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332|ENST00000554882	T;T|.	0.10860|.	2.83;2.83|.	5.56|5.56	1.61|1.61	0.23674|0.23674	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|.	0.43765|.	0.1262|.	L|L	0.35542|0.35542	1.07|1.07	0.51482|0.51482	D|D	0.999929|0.999929	P|.	0.44578|.	0.838|.	B|.	0.41813|.	0.367|.	T|.	0.13980|.	-1.0489|.	10|.	0.32370|.	T|.	0.25|.	-15.3113|-15.3113	7.5579|7.5579	0.27835|0.27835	0.4626:0.0:0.111:0.4264|0.4626:0.0:0.111:0.4264	.|.	2095|.	Q9ULT8|.	HECD1_HUMAN|.	M|W	2095;2097;2095|461	ENSP00000450697:I2095M;ENSP00000382269:I2095M|.	ENSP00000261312:I2097M|.	I|X	-|-	3|2	3|0	HECTD1|HECTD1	30648549|30648549	0.889000|0.889000	0.30405|0.30405	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	-0.072000|-0.072000	0.11486|0.11486	0.368000|0.368000	0.24481|0.24481	-0.710000|-0.710000	0.03640|0.03640	ATA|TAG		0.418	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			12	12	0	0	0	1	0	12	12					C	31578798	T	C	31578798	3	2	435	1	0	0	0	0	1	0	0	0	7039	1512	53	4	1579	4	HECTD1	14	31578798	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	223511	31578798	75770742	6178	27103											
HECTD1	25831	broad.mit.edu	37	chr14	31613366	31613366	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagccactgctacacattTcatatggtgaaattgtgttt	11	14	7	9	0	1	1	1	1	0	0	1	1	1	1	2	1	3	2	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:31613366T>C	ENST00000399332.1	-	17	3217	c.2729A>G	c.(2728-2730)gAa>gGa	p.E910G	HECTD1_ENST00000553700.1_Missense_Mutation_p.E910G|RNU6-541P_ENST00000384709.1_RNA	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	910					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			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)		GCTACACATTTCATATGGTGA	0.308																																						ENST00000399332.1																			0				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						c.(2728-2730)gAa>gGa		HECT domain containing E3 ubiquitin protein ligase 1							50	49	50					14																	31613366		1822	4079	5901	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31613366T>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2729A>G	14.37:g.31613366T>C	ENSP00000382269:p.Glu910Gly					HECTD1_ENST00000553700.1_Missense_Mutation_p.E910G	p.E910G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	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)	17	3217	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		910					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.2729A>G	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	T	30	5.050030	0.93740	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.80480	-0.12;-0.12;0.38;-1.38	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	D	0.91399	0.7286	M	0.89715	3.055	0.80722	D	1	D;B	0.76494	0.999;0.319	D;B	0.75484	0.986;0.034	D	0.93125	0.6528	10	0.87932	D	0	-12.947	15.8889	0.79276	0.0:0.0:0.0:1.0	.	910;910	D3DS86;Q9ULT8	.;HECD1_HUMAN	G	910;910;910;384;910	ENSP00000450697:E910G;ENSP00000382269:E910G;ENSP00000451860:E384G;ENSP00000452015:E910G	ENSP00000261312:E910G	E	-	2	0	HECTD1	30683117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	2.143000	0.66587	0.533000	0.62120	GAA		0.308	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			43	53	0	0	0	1	0	43	53					C	31613366	T	C	31613366	3	2	435	1	0	0	0	0	1	0	0	0	7039	1783	62	4	5211	4	HECTD1	14	31613366	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	34568	31613366	75736174	6179	27104											
HECTD1	25831	broad.mit.edu	37	chr14	31614086	31614086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgttaccactactccaCgaggcatgctttcaacagct	10	11	8	12	1	1	1	1	1	0	0	2	2	2	1	2	1	5	4	2	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:31614086C>T	ENST00000399332.1	-	16	3046	c.2558G>A	c.(2557-2559)cGt>cAt	p.R853H	HECTD1_ENST00000553700.1_Missense_Mutation_p.R853H|RNU6-541P_ENST00000384709.1_RNA	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	853					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			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)		CACTACTCCACGAGGCATGCT	0.353																																						ENST00000399332.1																			0				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						c.(2557-2559)cGt>cAt		HECT domain containing E3 ubiquitin protein ligase 1							88	83	85					14																	31614086		1876	4110	5986	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31614086C>T	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2558G>A	14.37:g.31614086C>T	ENSP00000382269:p.Arg853His					HECTD1_ENST00000553700.1_Missense_Mutation_p.R853H	p.R853H	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	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)	16	3046	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		853					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.2558G>A	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125990	0.94429	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.81415	0.27;0.27;0.7;-1.49	5.54	4.65	0.58169	Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	D	0.88969	0.6582	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.964	D;B	0.78314	0.991;0.198	D	0.89685	0.3893	10	0.54805	T	0.06	-8.2723	15.7983	0.78428	0.1372:0.8628:0.0:0.0	.	853;853	D3DS86;Q9ULT8	.;HECD1_HUMAN	H	853;853;853;327;853	ENSP00000450697:R853H;ENSP00000382269:R853H;ENSP00000451860:R327H;ENSP00000452015:R853H	ENSP00000261312:R853H	R	-	2	0	HECTD1	30683837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.800000	0.85949	1.324000	0.45282	0.650000	0.86243	CGT		0.353	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			17	26	0	0	0	1	0	17	26					T	31614086	C	T	31614086	3	4	435	1	0	0	0	0	1	0	0	0	7039	536	19	1	5386	1	HECTD1	14	31614086	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	720	31614086	75735454	6180	27105											
HEATR5A	25938	broad.mit.edu	37	chr14	31763122	31763122	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttcagcaacagtaacCagtgtttctaagacctttat	11	15	6	9	0	3	1	1	0	2	1	3	1	3	1	2	0	3	4	2	0	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:31763122C>A	ENST00000389961.3	-	34	5789	c.5790G>T	c.(5788-5790)ctG>ctT	p.L1930L	RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439348.1_Silent_p.L1855L|HEATR5A_ENST00000439727.1_Silent_p.L1643L|HEATR5A_ENST00000543095.2_Silent_p.L1936L			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1930										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)		CAACAGTAACCAGTGTTTCTA	0.363																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(5806-5808)ctG>ctT		HEAT repeat containing 5A							103	90	94					14																	31763122		1875	4116	5991	SO:0001819	synonymous_variant	25938						binding	g.chr14:31763122C>A	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5790G>T	14.37:g.31763122C>A						RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439727.1_Silent_p.L1643L|HEATR5A_ENST00000389961.3_Silent_p.L1930L|HEATR5A_ENST00000439348.1_Silent_p.L1855L	p.L1936L	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	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)	35	5992	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1930					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Silent	SNP	ENST00000389961.3	37	c.5808G>T		.	.	.	.	.	.	.	.	.	.	C	8.739	0.918572	0.17982	.	.	ENSG00000129493	ENST00000538864	.	.	.	5.39	1.19	0.21007	.	.	.	.	.	T	0.44180	0.1281	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28170	-1.0052	4	.	.	.	-0.1454	3.0317	0.06109	0.3441:0.4146:0.0984:0.1428	.	.	.	.	L	1489	.	.	W	-	2	0	HEATR5A	30832873	0.680000	0.27605	0.997000	0.53966	0.983000	0.72400	-0.102000	0.10956	0.643000	0.30638	0.555000	0.69702	TGG		0.363	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		4	12	1	0	1	1	1	4	12					A	31763122	C	A	31763122	2	1	435	1	0	0	0	0	0	0	0	1	7031	581	21	5		5	HEATR5A	14	31763122	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	149036	31763122	75586418	6181	27106											
HEATR5A	25938	broad.mit.edu	37	chr14	31813196	31813196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgagcttgaacaaggCagtctgggttatcttgcatt	8	13	12	8	0	2	2	0	2	2	0	2	2	2	2	1	3	3	4	1	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:31813196C>T	ENST00000389961.3	-	20	3115	c.3116G>A	c.(3115-3117)tGc>tAc	p.C1039Y	HEATR5A_ENST00000439348.1_Missense_Mutation_p.C1039Y|HEATR5A_ENST00000439727.1_Missense_Mutation_p.C752Y|HEATR5A_ENST00000543095.2_Missense_Mutation_p.C1045Y|HEATR5A_ENST00000404677.3_Missense_Mutation_p.C1045Y			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1039										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)		TTGAACAAGGCAGTCTGGGTT	0.438																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(3133-3135)tGc>tAc		HEAT repeat containing 5A							78	85	83					14																	31813196		2187	4298	6485	SO:0001583	missense	25938						binding	g.chr14:31813196C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.3116G>A	14.37:g.31813196C>T	ENSP00000374611:p.Cys1039Tyr					HEATR5A_ENST00000404677.3_Missense_Mutation_p.C1045Y|HEATR5A_ENST00000439727.1_Missense_Mutation_p.C752Y|HEATR5A_ENST00000389961.3_Missense_Mutation_p.C1039Y|HEATR5A_ENST00000439348.1_Missense_Mutation_p.C1039Y	p.C1045Y	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	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)	21	3318	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1039					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.3134G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.106057|4.106057	0.77096|0.77096	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864;ENST00000549719|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|T;T;T;T;T	.|0.06068	.|3.35;3.35;3.35;3.35;3.35	5.98|5.98	5.98|5.98	0.97165|0.97165	.|Armadillo-type fold (1);	.|0.096374	.|0.64402	.|D	.|0.000001	T|T	0.25158|0.25158	0.0611|0.0611	M|M	0.65975|0.65975	2.015|2.015	0.52501|0.52501	D|D	0.999954|0.999954	.|D;D;D	.|0.71674	.|0.998;0.988;0.993	.|D;P;P	.|0.66351	.|0.943;0.796;0.796	T|T	0.00016|0.00016	-1.2384|-1.2384	5|10	.|0.62326	.|D	.|0.03	.|.	20.4581|20.4581	0.99154|0.99154	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1045;1039;1039	.|B5MC49;Q86XA9-2;Q86XA9	.|.;.;HTR5A_HUMAN	T|Y	673;64|1039;1039;752;1045;1045	.|ENSP00000374611:C1039Y;ENSP00000405407:C1039Y;ENSP00000408681:C752Y;ENSP00000437968:C1045Y;ENSP00000384646:C1045Y	.|ENSP00000374611:C1039Y	A|C	-|-	1|2	0|0	HEATR5A|HEATR5A	30882947|30882947	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.611000|2.611000	0.46334|0.46334	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	GCC|TGC		0.438	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		10	17	0	0	0	1	0	10	17					T	31813196	C	T	31813196	3	4	435	1	0	0	0	0	1	0	0	0	7031	710	25	3	3070	3	HEATR5A	14	31813196	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	50074	31813196	75536344	6182	27107											
HEATR5A	25938	broad.mit.edu	37	chr14	31855778	31855778	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aattaccatcactcattacgGcatctgatagaaatgcaaga	16	10	6	9	1	3	3	2	1	1	2	3	3	3	3	1	1	3	2	1	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:31855778G>T	ENST00000389961.3	-	8	1174	c.1175C>A	c.(1174-1176)gCc>gAc	p.A392D	HEATR5A_ENST00000439348.1_Missense_Mutation_p.A392D|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A105D|HEATR5A_ENST00000543095.2_Missense_Mutation_p.A398D|HEATR5A_ENST00000404677.3_Missense_Mutation_p.A398D			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	392										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)		ACTCATTACGGCATCTGATAG	0.373																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(1192-1194)gCc>gAc		HEAT repeat containing 5A																																				SO:0001583	missense	25938						binding	g.chr14:31855778G>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1175C>A	14.37:g.31855778G>T	ENSP00000374611:p.Ala392Asp					HEATR5A_ENST00000404677.3_Missense_Mutation_p.A398D|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A105D|HEATR5A_ENST00000389961.3_Missense_Mutation_p.A392D|HEATR5A_ENST00000439348.1_Missense_Mutation_p.A392D	p.A398D	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	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)	9	1377	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		392					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.1193C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.78|12.78	2.041601|2.041601	0.35989|0.35989	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000538864	T;T;T;T;T|.	0.08458|.	3.09;3.09;3.09;3.09;3.09|.	5.93|5.93	5.04|5.04	0.67666|0.67666	.|.	0.172346|.	0.50627|.	D|.	0.000108|.	T|T	0.70622|0.70622	0.3245|0.3245	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.999994|0.999994	D;B|.	0.64830|.	0.994;0.085|.	P;B|.	0.60068|.	0.868;0.088|.	T|T	0.69840|0.69840	-0.5036|-0.5036	10|5	0.20519|.	T|.	0.43|.	.|.	14.997|14.997	0.71439|0.71439	0.0682:0.0:0.9318:0.0|0.0682:0.0:0.9318:0.0	.|.	398;392|.	B5MC49;Q86XA9-2|.	.;.|.	D|T	392;392;105;398;398|26	ENSP00000374611:A392D;ENSP00000405407:A392D;ENSP00000408681:A105D;ENSP00000437968:A398D;ENSP00000384646:A398D|.	ENSP00000374611:A392D|.	A|P	-|-	2|1	0|0	HEATR5A|HEATR5A	30925529|30925529	1.000000|1.000000	0.71417|0.71417	0.894000|0.894000	0.35097|0.35097	0.151000|0.151000	0.21798|0.21798	3.488000|3.488000	0.53229|0.53229	1.507000|1.507000	0.48752|0.48752	0.591000|0.591000	0.81541|0.81541	GCC|CCG		0.373	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		37	70	1	0	2.05212e-20	1	2.27512e-20	37	70					T	31855778	G	T	31855778	3	4	435	1	0	0	0	0	1	0	0	0	7031	1203	42	5	5059	5	HEATR5A	14	31855778	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42582	31855778	75493762	6183	27108											
ARHGAP5	394	broad.mit.edu	37	chr14	32561826	32561826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgagtcagttatggactGccgcctttaaaccacatggg	9	13	10	9	1	1	1	1	1	0	0	1	2	1	2	3	2	2	1	3	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:32561826G>A	ENST00000345122.3	+	2	2266	c.1951G>A	c.(1951-1953)Gcc>Acc	p.A651T	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.A651T|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.A651T|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.A651T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	651					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			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)		GTTATGGACTGCCGCCTTTAA	0.388																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				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						c.(1951-1953)Gcc>Acc		Rho GTPase activating protein 5							130	129	129					14																	32561826		2203	4300	6503	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561826G>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1951G>A	14.37:g.32561826G>A	ENSP00000371897:p.Ala651Thr					ARHGAP5_ENST00000539826.2_Missense_Mutation_p.A651T|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.A651T|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.A651T	p.A651T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	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)	2	2266	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		651					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.1951G>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	0.118	-1.129490	0.01756	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	5.72	3.9	0.45041	.	0.315534	0.38272	N	0.001755	T	0.03011	0.0089	N	0.03608	-0.345	0.30376	N	0.78245	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.004	T	0.37079	-0.9721	10	0.10111	T	0.7	.	6.1862	0.20498	0.1531:0.0:0.6092:0.2378	.	651;651	Q13017-2;Q13017	.;RHG05_HUMAN	T	651	ENSP00000452222:A651T;ENSP00000441692:A651T;ENSP00000371897:A651T;ENSP00000393307:A651T	ENSP00000371897:A651T	A	+	1	0	ARHGAP5	31631577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.945000	0.29056	0.881000	0.35993	0.650000	0.86243	GCC		0.388	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		27	77	0	0	0	1	0	27	77					A	32561826	G	A	32561826	3	1	435	1	0	0	0	0	1	0	0	0	886	1319	46	3	1953	3	ARHGAP5	14	32561826	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	706048	32561826	74787714	6184	27109											
AKAP6	9472	broad.mit.edu	37	chr14	32902725	32902725	+	Frame_Shift_Del	DEL	C	C	-																															aaccatgagcgtgacactttCccccctgaggtcacaggacc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:32902725delC	ENST00000280979.4	+	2	196	c.26delC	c.(25-27)tccfs	p.S9fs	AKAP6_ENST00000557272.1_Frame_Shift_Del_p.S9fs|AKAP6_ENST00000557354.1_Frame_Shift_Del_p.S9fs|AKAP6_ENST00000554449.1_3'UTR	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			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)		GTGACACTTTCCCCCCTGAGG	0.507																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				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						c.(25-27)tcfs		A kinase (PRKA) anchor protein 6							90	81	84					14																	32902725		2203	4300	6503	SO:0001589	frameshift_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:32902725delC	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.26delC	14.37:g.32902725delC	ENSP00000280979:p.Ser9fs					AKAP6_ENST00000557272.1_Frame_Shift_Del_p.S9fs|AKAP6_ENST00000557354.1_Frame_Shift_Del_p.S9fs|AKAP6_ENST00000554449.1_3'UTR	p.S9fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	2	196	+	Breast(36;0.0388)|Prostate(35;0.15)		9					A7E242|A7E2D4|O15028	Frame_Shift_Del	DEL	ENST00000280979.4	37	c.26delC	CCDS9644.1																																																																																				0.507	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		23	29						23	29	---	---	---	---	-	32902725	C	-	32902725	7	5	435	1	0	1	0	1	0	0	0	0	455	855	30	0	28	0	AKAP6	14	32902725	Frame_Shift_Del	DEL	C	TCGA-XK-AAIW-01A-11D-A41K-08	340899	32902725	74446815	6185	27110											
AKAP6	9472	broad.mit.edu	37	chr14	33015926	33015926	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctatcatgtcaaaaagaaGcatacaaggctaggcagggt	16	7	10	8	0	2	1	2	0	0	1	2	1	2	1	1	3	2	3	1	3	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:33015926G>A	ENST00000280979.4	+	4	2237	c.2067G>A	c.(2065-2067)aaG>aaA	p.K689K	AKAP6_ENST00000557272.1_Silent_p.K689K|AKAP6_ENST00000557354.1_Silent_p.K689K	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	689					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			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)		TCAAAAAGAAGCATACAAGGC	0.443																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				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						c.(2065-2067)aaG>aaA		A kinase (PRKA) anchor protein 6							106	102	103					14																	33015926		2203	4300	6503	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33015926G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2067G>A	14.37:g.33015926G>A						AKAP6_ENST00000557354.1_Silent_p.K689K|AKAP6_ENST00000557272.1_Silent_p.K689K	p.K689K	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	2237	+	Breast(36;0.0388)|Prostate(35;0.15)		689					A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.2067G>A	CCDS9644.1																																																																																				0.443	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		24	56	0	0	0	1	0	24	56					A	33015926	G	A	33015926	2	1	435	1	0	0	0	0	0	0	0	1	455	962	34	3		3	AKAP6	14	33015926	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	113201	33015926	74333614	6186	27111											
NPAS3	64067	broad.mit.edu	37	chr14	34268983	34268983	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgagaaggggaaccagtcCgagaacagcgaagacccgga	15	1	15	10	4	0	3	0	0	0	3	1	9	1	5	3	3	3	0	3	3	4	0	rs374909389		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:34268983C>T	ENST00000356141.4	+	12	1470	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	NPAS3_ENST00000357798.5_Silent_p.S477S|NPAS3_ENST00000548645.1_Silent_p.S460S|NPAS3_ENST00000346562.2_Silent_p.S458S|NPAS3_ENST00000551492.1_Silent_p.S495S			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	490					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			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)		GGAACCAGTCCGAGAACAGCG	0.637																																						ENST00000346562.2																			0				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						c.(1372-1374)tcC>tcT		neuronal PAS domain protein 3		C	,,,	0,4374		0,0,2187	31	29	29		1470,1380,1374,1431	-10.6	0.3	14		29	1,8581		0,1,4290	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NPAS3	NM_001164749.1,NM_001165893.1,NM_022123.2,NM_173159.2	,,,	0,1,6477	TT,TC,CC		0.0117,0.0,0.0077	,,,	490/934,460/904,458/902,477/921	34268983	1,12955	2187	4291	6478	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34268983C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1470C>T	14.37:g.34268983C>T						NPAS3_ENST00000356141.4_Silent_p.S490S|NPAS3_ENST00000551492.1_Silent_p.S495S|NPAS3_ENST00000548645.1_Silent_p.S460S|NPAS3_ENST00000357798.5_Silent_p.S477S	p.S458S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	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)	11	1448	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		490					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.1374C>T	CCDS53891.1																																																																																				0.637	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			2	1	0	0	0	1	0	2	1					T	34268983	C	T	34268983	2	4	435	1	0	0	0	0	0	0	0	1	10564	639	23	2		2	NPAS3	14	34268983	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1253057	34268983	73080557	6187	27112											
NPAS3	64067	broad.mit.edu	37	chr14	34269142	34269142	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgagaaccccaaggcgggCgaggacggcttcggtgctct	7	8	15	11	4	1	1	0	1	1	1	2	4	1	2	2	5	2	2	2	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:34269142C>T	ENST00000356141.4	+	12	1629	c.1629C>T	c.(1627-1629)ggC>ggT	p.G543G	NPAS3_ENST00000357798.5_Silent_p.G530G|NPAS3_ENST00000548645.1_Silent_p.G513G|NPAS3_ENST00000346562.2_Silent_p.G511G|NPAS3_ENST00000551492.1_Silent_p.G548G			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	543					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			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)		CCAAGGCGGGCGAGGACGGCT	0.632																																						ENST00000346562.2																			0				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						c.(1531-1533)ggC>ggT		neuronal PAS domain protein 3							56	59	58					14																	34269142		2203	4300	6503	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269142C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1629C>T	14.37:g.34269142C>T						NPAS3_ENST00000356141.4_Silent_p.G543G|NPAS3_ENST00000551492.1_Silent_p.G548G|NPAS3_ENST00000548645.1_Silent_p.G513G|NPAS3_ENST00000357798.5_Silent_p.G530G	p.G511G	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	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)	11	1607	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		543					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.1533C>T	CCDS53891.1																																																																																				0.632	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			6	14	0	0	0	1	0	6	14					T	34269142	C	T	34269142	2	4	435	1	0	0	0	0	0	0	0	1	10564	755	27	1		1	NPAS3	14	34269142	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	159	34269142	73080398	6188	27113											
EGLN3	112399	broad.mit.edu	37	chr14	34419698	34419698	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagctgatggcctcgcaGccctcctcgttgcccccgat	6	8	11	16	3	0	1	0	1	0	0	3	3	1	2	5	2	3	3	5	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:34419698G>A	ENST00000250457.3	-	1	589	c.261C>T	c.(259-261)ggC>ggT	p.G87G	EGLN3_ENST00000547327.2_Silent_p.G87G|EGLN3_ENST00000553215.1_Intron	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	87					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein hydroxylation (GO:0018126)|regulation of cell proliferation (GO:0042127)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	TGGCCTCGCAGCCCTCCTCGT	0.682																																					Esophageal Squamous(161;245 1904 13895 22565 30076)	ENST00000547327.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15						c.(259-261)ggC>ggT		egl-9 family hypoxia-inducible factor 3	Vitamin C(DB00126)						35	40	38					14																	34419698		2203	4299	6502	SO:0001819	synonymous_variant	112399				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding	g.chr14:34419698G>A	AJ310545	CCDS9646.1	14q12	2013-08-21	2013-08-21		ENSG00000129521	ENSG00000129521			14661	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 3"	606426	"EGL nine (C.elegans) homolog 3", "egl nine homolog 3 (C. elegans)"				Standard	NM_022073		Approved	PHD3, HIFPH3	uc001wsa.4	Q9H6Z9	OTTHUMG00000029498	ENST00000250457.3:c.261C>T	14.37:g.34419698G>A						EGLN3_ENST00000553215.1_Intron|EGLN3_ENST00000250457.3_Silent_p.G87G	p.G87G			Q9H6Z9	EGLN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	1	589	-	Breast(36;0.0303)|Hepatocellular(127;0.133)		87					Q2TA79|Q3B8N4|Q6P1R2	Silent	SNP	ENST00000250457.3	37	c.261C>T	CCDS9646.1																																																																																				0.682	EGLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276647.1			11	30	0	0	0	1	0	11	30					A	34419698	G	A	34419698	2	1	435	1	0	0	0	0	0	0	0	1	4970	958	34	3		3	EGLN3	14	34419698	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	150556	34419698	72929842	6189	27114											
RALGAPA1	253959	broad.mit.edu	37	chr14	36103833	36103833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtcaggagagtgcagaGgctcaggctctttcagactt	9	10	13	9	0	4	4	3	1	1	3	4	5	4	4	0	3	1	3	0	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:36103833G>T	ENST00000389698.3	-	32	4814	c.4424C>A	c.(4423-4425)cCt>cAt	p.P1475H	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.P1522H|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1488H|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1475H	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1475	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGAGTGCAGAGGCTCAGGCTC	0.418																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(4564-4566)cCt>cAt		Ral GTPase activating protein, alpha subunit 1 (catalytic)							81	76	77					14																	36103833		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36103833G>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4424C>A	14.37:g.36103833G>T	ENSP00000374348:p.Pro1475His					RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1488H|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1475H|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P1475H	p.P1522H			Q6GYQ0	RGPA1_HUMAN			33	4955	-			1475			Minimal domain that binds to TCF3/E12 (By similarity).		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.4565C>A	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523310	0.85600	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.56366	0.1980	M	0.72894	2.215	0.58432	D	0.999995	D;D;P;D	0.89917	1.0;1.0;0.675;0.998	D;D;P;D	0.97110	1.0;0.989;0.468;0.959	T	0.49173	-0.8967	10	0.30854	T	0.27	-16.9603	19.5007	0.95093	0.0:0.0:1.0:0.0	.	1522;1488;1475;1475	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	H	1475;1475;1475;1522;113;1488;1522	ENSP00000374348:P1475H;ENSP00000302647:P1475H;ENSP00000258840:P1522H;ENSP00000451133:P113H;ENSP00000371803:P1488H;ENSP00000451877:P1522H	ENSP00000258840:P1522H	P	-	2	0	RALGAPA1	35173584	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.173000	0.94815	2.673000	0.90976	0.650000	0.86243	CCT		0.418	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		21	26	1	0	6.44725e-10	1	6.8705e-10	21	26					T	36103833	G	T	36103833	3	4	435	1	0	0	0	0	1	0	0	0	13013	1000	35	5	1875	5	RALGAPA1	14	36103833	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1684135	36103833	71245707	6190	27115											
RALGAPA1	253959	broad.mit.edu	37	chr14	36104725	36104725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcgctttctgctcccgtaGcatgaaatggttggagcagt	8	13	11	9	2	1	1	0	1	1	0	3	2	2	2	1	2	3	6	1	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:36104725G>T	ENST00000389698.3	-	31	4628	c.4238C>A	c.(4237-4239)gCt>gAt	p.A1413D	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.A1460D|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.A1426D|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.A1413D	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1413	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGCTCCCGTAGCATGAAATGG	0.363																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(4378-4380)gCt>gAt		Ral GTPase activating protein, alpha subunit 1 (catalytic)							50	46	48					14																	36104725		2203	4297	6500	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36104725G>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4238C>A	14.37:g.36104725G>T	ENSP00000374348:p.Ala1413Asp					RALGAPA1_ENST00000382366.3_Missense_Mutation_p.A1426D|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.A1413D|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.A1413D	p.A1460D			Q6GYQ0	RGPA1_HUMAN			32	4769	-			1413			Minimal domain that binds to TCF3/E12 (By similarity).		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.4379C>A	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083685	0.36758	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54	5.41	3.56	0.40772	.	0.673047	0.15925	N	0.237947	T	0.18718	0.0449	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.25850	0.026;0.021;0.002;0.136	B;B;B;B	0.22880	0.029;0.04;0.008;0.042	T	0.12682	-1.0538	10	0.30078	T	0.28	-4.4742	6.6724	0.23076	0.1481:0.0:0.7072:0.1446	.	1460;1426;1413;1413	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	D	1413;1413;1413;1460;51;1426;1460	ENSP00000374348:A1413D;ENSP00000302647:A1413D;ENSP00000258840:A1460D;ENSP00000451133:A51D;ENSP00000371803:A1426D;ENSP00000451877:A1460D	ENSP00000258840:A1460D	A	-	2	0	RALGAPA1	35174476	0.993000	0.37304	0.622000	0.29159	0.973000	0.67179	3.758000	0.55220	1.407000	0.46875	0.563000	0.77884	GCT		0.363	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		4	31	1	0	0.00024832	1	0.000253518	4	31					T	36104725	G	T	36104725	3	4	435	1	0	0	0	0	1	0	0	0	13013	971	34	5	2065	5	RALGAPA1	14	36104725	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	892	36104725	71244815	6191	27116											
NKX2-1	7080	broad.mit.edu	37	chr14	36988568	36988568	+	5'UTR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggactcatcgacatgattcGgcggcggctggaggaggaag	9	7	17	8	4	1	1	1	1	0	0	3	6	1	5	0	7	0	1	0	7	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:36988568G>A	ENST00000518149.1	-	0	600				NKX2-1-AS1_ENST00000521292.2_RNA|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_5'UTR|NKX2-1_ENST00000354822.5_Nonsense_Mutation_p.R29*|NKX2-1_ENST00000522719.2_5'UTR			P43699	NKX21_HUMAN	NK2 homeobox 1						anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	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)		GACATGATTCGGCGGCGGCTG	0.532			A		NSCLC																																	ENST00000354822.5				Dom	yes		14	14q13	7080	A	NK2 homeobox 1			E			NSCLC		0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7						c.(85-87)Cga>Tga		NK2 homeobox 1							14	17	16					14																	36988568		2063	4049	6112	SO:0001623	5_prime_UTR_variant	7080				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	g.chr14:36988568G>A		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"Homeoboxes / ANTP class : NKL subclass"	11825	protein-coding gene	gene with protein product		600635	"benign chorea", "thyroid transcription factor 1"	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.-6C>T	14.37:g.36988568G>A						NKX2-1_ENST00000522719.2_5'UTR|NKX2-1_ENST00000518149.1_5'UTR|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000498187.2_5'UTR	p.R29*	NM_001079668.2	NP_001073136.1	P43699	NKX21_HUMAN	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)	2	183	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		249					D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Nonsense_Mutation	SNP	ENST00000518149.1	37	c.85C>T	CCDS9659.1	.	.	.	.	.	.	.	.	.	.	G	35	5.438563	0.96168	.	.	ENSG00000136352	ENST00000354822	.	.	.	5.12	5.12	0.69794	.	0.000000	0.39475	U	0.001345	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4943	0.61416	0.0:0.0:0.8435:0.1565	.	.	.	.	X	29	.	ENSP00000346879:R29X	R	-	1	2	NKX2-1	36058319	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.375000	0.66173	2.381000	0.81170	0.462000	0.41574	CGA		0.532	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	NM_003317		4	11	0	0	0	1	0	4	11					A	36988568	G	A	36988568	1	1	435	0	1	0	0	0	0	0	0	0	10449	1124	39	2		2	NKX2-1	14	36988568	5'UTR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	883843	36988568	70360972	6192	27117											
PAX9	5083	broad.mit.edu	37	chr14	37145538	37145538	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttgctggacatgggtggCaacatgctgggggcacctca	8	9	15	9	0	1	0	1	0	0	0	1	1	1	1	1	5	3	5	1	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:37145538C>T	ENST00000361487.6	+	4	1132	c.907C>T	c.(907-909)Caa>Taa	p.Q303*	PAX9_ENST00000402703.2_Nonsense_Mutation_p.Q303*|PAX9_ENST00000554201.1_3'UTR|PAX9_ENST00000557107.1_3'UTR			P55771	PAX9_HUMAN	paired box 9	303					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			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)		ACATGGGTGGCAACATGCTGG	0.557																																						ENST00000361487.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12						c.(907-909)Caa>Taa		paired box 9							194	162	173					14																	37145538		2203	4300	6503	SO:0001587	stop_gained	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37145538C>T	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"Paired boxes"	8623	protein-coding gene	gene with protein product		167416	"paired box gene 9"			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.907C>T	14.37:g.37145538C>T	ENSP00000355245:p.Gln303*					PAX9_ENST00000402703.2_Nonsense_Mutation_p.Q303*|PAX9_ENST00000554201.1_3'UTR|PAX9_ENST00000557107.1_3'UTR	p.Q303*			P55771	PAX9_HUMAN	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)	4	1132	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		303					Q99582|Q9UQR4	Nonsense_Mutation	SNP	ENST00000361487.6	37	c.907C>T	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	C	42	9.339727	0.99142	.	.	ENSG00000198807	ENST00000402703;ENST00000361487	.	.	.	6.16	6.16	0.99307	.	0.139266	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	303	.	ENSP00000355245:Q303X	Q	+	1	0	PAX9	36215289	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.142000	0.77339	2.937000	0.99478	0.650000	0.86243	CAA		0.557	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			40	58	0	0	0	1	0	40	58					T	37145538	C	T	37145538	4	4	435	1	0	0	0	0	0	1	0	0	11486	711	25	3	921	3	PAX9	14	37145538	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	156970	37145538	70204002	6193	27118											
FOXA1	3169	broad.mit.edu	37	chr14	38061877	38061877	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggagttcatggagcccaGgcctgagttcatgttgctga	8	11	13	9	0	2	2	2	2	0	0	2	4	2	4	2	3	2	4	2	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:38061877G>A	ENST00000250448.2	-	2	173	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	FOXA1_ENST00000540786.1_Silent_p.L5L|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	38					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ATGGAGCCCAGGCCTGAGTTC	0.592																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(112-114)Ctg>Ttg		forkhead box A1							145	126	133					14																	38061877		2203	4300	6503	SO:0001819	synonymous_variant	3169				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	g.chr14:38061877G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.112C>T	14.37:g.38061877G>A						FOXA1_ENST00000540786.1_Silent_p.L5L|FOXA1_ENST00000545425.2_5'UTR	p.L38L	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	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)	2	173	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		38					B2R9H6|B7ZAP5|Q9H2A0	Silent	SNP	ENST00000250448.2	37	c.112C>T	CCDS9665.1																																																																																				0.592	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			26	44	0	0	0	1	0	26	44					A	38061877	G	A	38061877	2	1	435	1	0	0	0	0	0	0	0	1	5989	991	35	3		3	FOXA1	14	38061877	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	916339	38061877	69287663	6194	27119											
SSTR1	6751	broad.mit.edu	37	chr14	38679094	38679094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatcccatcaaggcggcccGctaccgccggcccaccgtgg	6	4	12	19	5	1	0	1	0	0	0	2	0	2	0	6	4	1	2	6	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:38679094G>A	ENST00000267377.2	+	3	1117	c.500G>A	c.(499-501)cGc>cAc	p.R167H		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	167					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	AAGGCGGCCCGCTACCGCCGG	0.642																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(499-501)cGc>cAc		somatostatin receptor 1	Octreotide(DB00104)						68	69	68					14																	38679094		2203	4299	6502	SO:0001583	missense	0				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	g.chr14:38679094G>A		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"GPCR / Class A : Somatostatin receptors"	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.500G>A	14.37:g.38679094G>A	ENSP00000267377:p.Arg167His						p.R167H	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1117	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		167						Missense_Mutation	SNP	ENST00000267377.2	37	c.500G>A	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472056	0.63737	.	.	ENSG00000139874	ENST00000267377	T	0.39787	1.06	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000028	T	0.40196	0.1107	M	0.63169	1.94	0.50632	D	0.999887	P	0.43231	0.801	B	0.33690	0.168	T	0.52419	-0.8578	10	0.72032	D	0.01	.	17.0667	0.86561	0.0:0.0:1.0:0.0	.	167	P30872	SSR1_HUMAN	H	167	ENSP00000267377:R167H	ENSP00000267377:R167H	R	+	2	0	SSTR1	37748845	0.979000	0.34478	1.000000	0.80357	0.992000	0.81027	4.166000	0.58203	2.514000	0.84764	0.561000	0.74099	CGC		0.642	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			25	37	0	0	0	1	0	25	37					A	38679094	G	A	38679094	3	1	435	1	0	0	0	0	1	0	0	0	15196	1087	38	1	502	1	SSTR1	14	38679094	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	617217	38679094	68670446	6195	27120											
SSTR1	6751	broad.mit.edu	37	chr14	38679546	38679546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggctatgccaacagctgcGccaaccccatcctctatggc	8	8	8	17	2	1	0	0	0	1	0	3	0	2	0	5	2	5	2	5	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:38679546G>A	ENST00000267377.2	+	3	1569	c.952G>A	c.(952-954)Gcc>Acc	p.A318T		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	318					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	CAACAGCTGCGCCAACCCCAT	0.582																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(952-954)Gcc>Acc		somatostatin receptor 1	Octreotide(DB00104)						139	128	132					14																	38679546		2203	4300	6503	SO:0001583	missense	0				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	g.chr14:38679546G>A		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"GPCR / Class A : Somatostatin receptors"	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.952G>A	14.37:g.38679546G>A	ENSP00000267377:p.Ala318Thr						p.A318T	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1569	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		318						Missense_Mutation	SNP	ENST00000267377.2	37	c.952G>A	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725162	0.89298	.	.	ENSG00000139874	ENST00000267377	T	0.37752	1.18	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000016	T	0.60547	0.2277	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64850	-0.6310	10	0.87932	D	0	.	17.0667	0.86561	0.0:0.0:1.0:0.0	.	318	P30872	SSR1_HUMAN	T	318	ENSP00000267377:A318T	ENSP00000267377:A318T	A	+	1	0	SSTR1	37749297	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.623000	0.98386	2.514000	0.84764	0.561000	0.74099	GCC		0.582	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			35	46	0	0	0	1	0	35	46					A	38679546	G	A	38679546	3	1	435	1	0	0	0	0	1	0	0	0	15196	1087	38	1	954	1	SSTR1	14	38679546	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	452	38679546	68669994	6196	27121											
CLEC14A	161198	broad.mit.edu	37	chr14	38724474	38724474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcgcatttgccagcacGgaggtacctcccggggcagg	6	7	14	14	3	1	0	0	0	1	0	2	1	2	1	3	5	4	4	3	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:38724474G>A	ENST00000342213.2	-	1	1100	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	252	EGF-like.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TTGCCAGCACGGAGGTACCTC	0.617																																						ENST00000342213.2																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(754-756)Cgt>Tgt		C-type lectin domain family 14, member A							111	121	118					14																	38724474		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724474G>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.754C>T	14.37:g.38724474G>A	ENSP00000353013:p.Arg252Cys						p.R252C	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1100	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		252			EGF-like.		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.754C>T	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737857	0.69304	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.75154	-0.91	3.81	3.81	0.43845	Epidermal growth factor-like (1);	0.237105	0.21837	N	0.068391	T	0.75729	0.3889	L	0.29908	0.895	0.34358	D	0.690685	D	0.89917	1.0	D	0.64687	0.928	T	0.81289	-0.1000	10	0.56958	D	0.05	-3.8386	11.4733	0.50282	0.0:0.0:1.0:0.0	.	252	Q86T13	CLC14_HUMAN	C	252;17	ENSP00000353013:R252C	ENSP00000353013:R252C	R	-	1	0	CLEC14A	37794225	0.633000	0.27181	0.671000	0.29857	0.811000	0.45836	2.150000	0.42254	2.439000	0.82584	0.591000	0.81541	CGT		0.617	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		38	62	0	0	0	1	0	38	62					A	38724474	G	A	38724474	3	1	435	1	0	0	0	0	1	0	0	0	3499	1116	39	2	722	2	CLEC14A	14	38724474	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44928	38724474	68625066	6197	27122											
SEC23A	10484	broad.mit.edu	37	chr14	39536389	39536389	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcttacctttatttctagCgtaccaccaaagcccatttt	9	16	4	12	1	2	0	0	0	2	0	2	0	2	0	4	0	4	2	4	0	5	9	rs140246467	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:39536389C>T	ENST00000307712.6	-	10	1732	c.1215G>A	c.(1213-1215)acG>acA	p.T405T	SEC23A_ENST00000553925.1_5'UTR|SEC23A_ENST00000545328.2_Silent_p.T376T|SEC23A_ENST00000536508.1_Silent_p.T279T|SEC23A_ENST00000537403.1_Silent_p.T203T	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	405					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TTATTTCTAGCGTACCACCAA	0.328																																						ENST00000537403.1																			0				kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(607-609)acG>acA		Sec23 homolog A (S. cerevisiae)		C		4,4402	8.1+/-20.4	0,4,2199	116	112	114		1215	-5.6	0.5	14	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SEC23A	NM_006364.2		0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384		405/766	39536389	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	10484				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	g.chr14:39536389C>T	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1215G>A	14.37:g.39536389C>T						SEC23A_ENST00000536508.1_Silent_p.T279T|SEC23A_ENST00000545328.2_Silent_p.T376T|SEC23A_ENST00000307712.6_Silent_p.T405T|SEC23A_ENST00000553925.1_5'UTR	p.T203T			Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	6	1811	-	Hepatocellular(127;0.213)		405					B2R5P4|B3KXI2|Q8NE16	Silent	SNP	ENST00000307712.6	37	c.609G>A	CCDS9668.1																																																																																				0.328	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			35	74	0	0	0	1	0	35	74					T	39536389	C	T	39536389	2	4	435	1	0	0	0	0	0	0	0	1	13991	755	27	1		1	SEC23A	14	39536389	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	811915	39536389	67813151	6198	27123											
PNN	5411	broad.mit.edu	37	chr14	39647050	39647050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattctgttctttaggaaccGgcgaatatttggcttgttga	8	17	10	6	2	2	1	0	1	2	0	2	3	2	2	1	3	1	3	1	3	5	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:39647050G>A	ENST00000216832.4	+	6	495	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000553331.1_Silent_p.P111P	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	143	Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			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)		TTTAGGAACCGGCGAATATTT	0.343																																						ENST00000216832.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27						c.(427-429)cGg>cAg		pinin, desmosome associated protein							243	269	260					14																	39647050		2203	4300	6503	SO:0001583	missense	5411				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	g.chr14:39647050G>A	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.428G>A	14.37:g.39647050G>A	ENSP00000216832:p.Arg143Gln					PNN_ENST00000553331.1_Silent_p.P111P	p.R143Q	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	6	495	+	Hepatocellular(127;0.213)		143			Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	c.428G>A	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	G	37	6.007649	0.97195	.	.	ENSG00000100941	ENST00000216832	T	0.54675	0.56	5.48	5.48	0.80851	Pinin/SDK/MemA protein (1);Pinin/SDK (1);	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	L	0.59967	1.855	0.80722	D	1	D	0.76494	0.999	D	0.63113	0.911	T	0.70521	-0.4849	10	0.72032	D	0.01	-6.2935	19.7147	0.96110	0.0:0.0:1.0:0.0	.	143	Q9H307	PININ_HUMAN	Q	143	ENSP00000216832:R143Q	ENSP00000216832:R143Q	R	+	2	0	PNN	38716801	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.755000	0.98912	2.732000	0.93576	0.591000	0.81541	CGG		0.343	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		108	180	0	0	0	1	0	108	180					A	39647050	G	A	39647050	3	1	435	1	0	0	0	0	1	0	0	0	12160	1116	39	2	450	2	PNN	14	39647050	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	110661	39647050	67702490	6199	27124											
FBXO33	254170	broad.mit.edu	37	chr14	39871008	39871008	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttccagcataaacccacaGgacagccatttcagttgcct	12	10	6	13	0	1	0	1	0	0	0	2	1	2	1	4	1	4	2	4	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:39871008G>A	ENST00000298097.7	-	3	1105	c.768C>T	c.(766-768)tcC>tcT	p.S256S	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	256					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TAAACCCACAGGACAGCCATT	0.408																																						ENST00000298097.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9						c.(766-768)tcC>tcT		F-box protein 33							71	73	72					14																	39871008		2203	4300	6503	SO:0001819	synonymous_variant	254170							g.chr14:39871008G>A	BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"F-boxes /  "other""	19833	protein-coding gene	gene with protein product		609103	"F-box only protein 33"				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.768C>T	14.37:g.39871008G>A						FBXO33_ENST00000554190.1_Intron	p.S256S	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)	3	1105	-	Hepatocellular(127;0.213)		256					Q6PIR2|Q86TR2|Q86YE0	Silent	SNP	ENST00000298097.7	37	c.768C>T	CCDS9677.1																																																																																				0.408	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2			22	83	0	0	0	1	0	22	83					A	39871008	G	A	39871008	2	1	435	1	0	0	0	0	0	0	0	1	5743	987	35	3		3	FBXO33	14	39871008	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	223958	39871008	67478532	6200	27125											
KLHL28	54813	broad.mit.edu	37	chr14	45403751	45403751	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagtcattctgaggaaagtAcatctccacactaaagaata	17	9	7	8	0	3	3	1	1	2	2	4	4	3	4	1	1	1	1	1	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:45403751A>G	ENST00000396128.4	-	3	1029	c.910T>C	c.(910-912)Tac>Cac	p.Y304H	KLHL28_ENST00000355081.2_Missense_Mutation_p.Y318H	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	304										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGAGGAAAGTACATCTCCACa	0.338																																						ENST00000396128.4																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(910-912)Tac>Cac		kelch-like family member 28							38	37	38					14																	45403751		2203	4299	6502	SO:0001583	missense	54813							g.chr14:45403751A>G	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"Kelch-like", "BTB/POZ domain containing"	19741	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 5", "kelch-like 28 (Drosophila)"	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.910T>C	14.37:g.45403751A>G	ENSP00000379434:p.Tyr304His					KLHL28_ENST00000355081.2_Missense_Mutation_p.Y318H	p.Y304H	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN			3	1029	-			304					Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	c.910T>C	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.072167	0.76415	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	T;T	0.79247	-1.25;-1.25	5.38	5.38	0.77491	Kelch-type beta propeller (1);	0.171581	0.53938	D	0.000055	D	0.85801	0.5781	M	0.91872	3.25	0.80722	D	1	P	0.50272	0.933	P	0.48189	0.57	D	0.89411	0.3703	10	0.87932	D	0	.	15.3385	0.74277	1.0:0.0:0.0:0.0	.	304	Q9NXS3	KLH28_HUMAN	H	304;318	ENSP00000379434:Y304H;ENSP00000347193:Y318H	ENSP00000347193:Y318H	Y	-	1	0	KLHL28	44473501	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.715000	0.91416	2.157000	0.67596	0.455000	0.32223	TAC		0.338	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			10	29	0	0	0	1	0	10	29					G	45403751	A	G	45403751	3	3	435	1	0	0	0	0	1	0	0	0	8382	391	14	4	817	4	KLHL28	14	45403751	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	5532743	45403751	61945789	6201	27126											
FAM179B	23116	broad.mit.edu	37	chr14	45523680	45523680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttcagcaaaaggaagacGatctcatactggcagtgttg	12	10	10	9	1	2	1	2	0	1	1	4	3	3	2	1	2	2	3	1	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:45523680G>A	ENST00000361577.3	+	15	4542	c.4328G>A	c.(4327-4329)cGa>cAa	p.R1443Q	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.R1496Q	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1443										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AAAGGAAGACGATCTCATACT	0.343																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(4486-4488)cGa>cAa		family with sequence similarity 179, member B							104	98	100					14																	45523680		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45523680G>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4328G>A	14.37:g.45523680G>A	ENSP00000355045:p.Arg1443Gln					FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.R1443Q	p.R1496Q			Q9Y4F4	F179B_HUMAN			16	4670	+			1443					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.4487G>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802000	0.90538	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.23950	1.88;1.88	4.88	4.88	0.63580	Armadillo-type fold (1);	0.130516	0.52532	D	0.000068	T	0.43986	0.1272	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	0.963;1.0	P;D	0.87578	0.707;0.998	T	0.27806	-1.0063	10	0.46703	T	0.11	-7.6993	16.6513	0.85203	0.0:0.0:1.0:0.0	.	1496;1443	G3XAE9;Q9Y4F4	.;F179B_HUMAN	Q	1443;1496	ENSP00000355045:R1443Q;ENSP00000354917:R1496Q	ENSP00000354917:R1496Q	R	+	2	0	FAM179B	44593430	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.283000	0.58977	2.253000	0.74438	0.644000	0.83932	CGA		0.343	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		32	43	0	0	0	1	0	32	43					A	45523680	G	A	45523680	3	1	435	1	0	0	0	0	1	0	0	0	5506	1058	37	2	4386	2	FAM179B	14	45523680	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	119929	45523680	61825860	6202	27127											
C14orf106	55320	broad.mit.edu	37	chr14	45675289	45675289	+	Frame_Shift_Del	DEL	T	T	-																															taaagaaaaatacttactaaTtttttcttgatgttgcccca																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:45675289delT	ENST00000310806.4	-	15	3695	c.3237delA	c.(3235-3237)aaafs	p.K1079fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	1079					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TACTTACTAATTTTTTCTTGA	0.308																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(3235-3237)aafs		MIS18 binding protein 1							59	58	58					14																	45675289		2198	4291	6489	SO:0001589	frameshift_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45675289delT	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.3237delA	14.37:g.45675289delT	ENSP00000309790:p.Lys1079fs						p.K1079fs	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			15	3695	-			1079					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Del	DEL	ENST00000310806.4	37	c.3237delA	CCDS9684.1																																																																																				0.308	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			13	24						13	24	---	---	---	---	-	45675289	T	-	45675289	7	5	435	1	0	1	0	1	0	0	0	0	1738	1490	52	0	173	0	C14orf106	14	45675289	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	151609	45675289	61674251	6203	27128											
C14orf106	55320	broad.mit.edu	37	chr14	45687566	45687566	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggattttccatgtattTcctctggcattcttcaggag	6	17	9	9	0	4	0	1	0	3	0	6	2	6	2	2	3	0	2	2	3	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:45687566T>C	ENST00000310806.4	-	12	3219	c.2761A>G	c.(2761-2763)Aaa>Gaa	p.K921E		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	921	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCCATGTATTTCCTCTGGCAT	0.448																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2761-2763)Aaa>Gaa		MIS18 binding protein 1							122	118	119					14																	45687566		2203	4300	6503	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45687566T>C	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2761A>G	14.37:g.45687566T>C	ENSP00000309790:p.Lys921Glu						p.K921E	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			12	3219	-			921			SANT.		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.2761A>G	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.336363	0.81801	.	.	ENSG00000129534	ENST00000310806	T	0.47869	0.83	5.41	5.41	0.78517	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.088100	0.85682	D	0.000000	T	0.58293	0.2112	M	0.74881	2.28	0.48135	D	0.999598	P	0.42584	0.784	P	0.48304	0.573	T	0.63829	-0.6548	10	0.72032	D	0.01	-23.1883	13.4001	0.60879	0.0:0.0:0.0:1.0	.	921	Q6P0N0	M18BP_HUMAN	E	921	ENSP00000309790:K921E	ENSP00000309790:K921E	K	-	1	0	MIS18BP1	44757316	1.000000	0.71417	0.989000	0.46669	0.728000	0.41692	2.668000	0.46816	2.059000	0.61396	0.477000	0.44152	AAA		0.448	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			56	65	0	0	0	1	0	56	65					C	45687566	T	C	45687566	3	2	435	1	0	0	0	0	1	0	0	0	1738	1792	62	4	661	4	C14orf106	14	45687566	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	12277	45687566	61661974	6204	27129											
RPL10L	140801	broad.mit.edu	37	chr14	47120929	47120929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggtaacagcgagctggaCggcgccccatggcgacacag	10	3	14	14	5	0	0	0	0	0	0	0	3	0	1	3	4	3	2	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:47120929C>T	ENST00000298283.3	-	1	99	c.11G>A	c.(10-12)cGt>cAt	p.R4H		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	4					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GCGAGCTGGACGGCGCCCCAT	0.557																																						ENST00000298283.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						c.(10-12)cGt>cAt		ribosomal protein L10-like							67	71	70					14																	47120929		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120929C>T	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"L ribosomal proteins"	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.11G>A	14.37:g.47120929C>T	ENSP00000298283:p.Arg4His						p.R4H	NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN			1	99	-			4					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.11G>A	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768815	0.31320	.	.	ENSG00000165496	ENST00000298283	T	0.77877	-1.13	4.32	4.32	0.51571	Ribosomal protein L10e/L16 (1);	0.060938	0.64402	D	0.000004	T	0.81749	0.4888	M	0.92691	3.335	0.58432	D	0.999999	B	0.12630	0.006	B	0.08055	0.003	T	0.82348	-0.0502	10	0.66056	D	0.02	-25.8262	12.6152	0.56573	0.0:1.0:0.0:0.0	.	4	Q96L21	RL10L_HUMAN	H	4	ENSP00000298283:R4H	ENSP00000298283:R4H	R	-	2	0	RPL10L	46190679	0.990000	0.36364	0.972000	0.41901	0.223000	0.24884	3.208000	0.51114	2.688000	0.91661	0.655000	0.94253	CGT		0.557	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			23	50	0	0	0	1	0	23	50					T	47120929	C	T	47120929	3	4	435	1	0	0	0	0	1	0	0	0	13556	536	19	1	637	1	RPL10L	14	47120929	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1433363	47120929	60228611	6205	27130											
MDGA2	161357	broad.mit.edu	37	chr14	47343281	47343281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actacggtcagcattaggtcCtgtattaggagtatattttg	10	15	10	6	1	1	0	1	0	0	0	2	1	2	1	1	3	2	3	1	3	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:47343281C>T	ENST00000399232.2	-	13	2717	c.2353G>A	c.(2353-2355)Gga>Aga	p.G785R	MDGA2_ENST00000439988.3_Missense_Mutation_p.G854R|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000426342.1_Missense_Mutation_p.G556R|MDGA2_ENST00000357362.3_Missense_Mutation_p.G556R	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	785	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GCATTAGGTCCTGTATTAGGA	0.348																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1666-1668)Gga>Aga		MAM domain containing glycosylphosphatidylinositol anchor 2							175	168	171					14																	47343281		1844	4097	5941	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47343281C>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2353G>A	14.37:g.47343281C>T	ENSP00000382178:p.Gly785Arg					MDGA2_ENST00000399232.2_Missense_Mutation_p.G854R|MDGA2_ENST00000357362.3_Missense_Mutation_p.G556R|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000439988.2_Missense_Mutation_p.G785R	p.G556R	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			13	2412	-			785			Ig-like 6.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1666G>A		.	.	.	.	.	.	.	.	.	.	C	27.8	4.861445	0.91433	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.02916	4.11;4.11;4.11;4.11	5.37	5.37	0.77165	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.47852	U	0.000211	T	0.23846	0.0577	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.13202	-1.0518	10	0.87932	D	0	.	17.6763	0.88232	0.0:1.0:0.0:0.0	.	556;785	F6W3S7;Q7Z553	.;MDGA2_HUMAN	R	785;556;854;556	ENSP00000400011:G785R;ENSP00000405456:G556R;ENSP00000382178:G854R;ENSP00000349925:G556R	ENSP00000349925:G556R	G	-	1	0	MDGA2	46413031	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	7.487000	0.81328	2.501000	0.84356	0.467000	0.42956	GGA		0.348	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		42	63	0	0	0	1	0	42	63					T	47343281	C	T	47343281	3	4	435	1	0	0	0	0	1	0	0	0	9407	690	24	3	537	3	MDGA2	14	47343281	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	222352	47343281	60006259	6206	27131											
RPL36AL	6166	broad.mit.edu	37	chr14	50085776	50085776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctttgtgaggctgatgcttgCcacacttcttacagaaggtt	8	14	10	9	0	1	3	0	2	1	1	1	3	1	3	1	2	3	3	1	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:50085776C>T	ENST00000298289.6	-	2	206	c.47G>A	c.(46-48)gGc>gAc	p.G16D	RP11-649E7.5_ENST00000555043.1_RNA|MGAT2_ENST00000305386.2_5'Flank	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	16					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)					all_epithelial(31;0.0021)|Breast(41;0.0124)					CTGATGCTTGCCACACTTCTT	0.438																																						ENST00000298289.6																			0											c.(46-48)gGc>gAc		ribosomal protein L36a-like							95	93	94					14																	50085776		2203	4300	6503	SO:0001583	missense	6166				translation	ribosome	structural constituent of ribosome	g.chr14:50085776C>T	BC000741	CCDS9689.1	14q21	2008-08-29	2002-01-15	2002-01-18	ENSG00000165502	ENSG00000165502		"L ribosomal proteins"	10346	protein-coding gene	gene with protein product		180469	"ribosomal protein L36a"	RPL36A		1577483	Standard	NM_001001		Approved		uc001wwq.2	Q969Q0	OTTHUMG00000152330	ENST00000298289.6:c.47G>A	14.37:g.50085776C>T	ENSP00000346012:p.Gly16Asp						p.G16D	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN			2	206	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		16					Q3B7A5	Missense_Mutation	SNP	ENST00000298289.6	37	c.47G>A	CCDS9689.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516264	0.44763	.	.	ENSG00000165502	ENST00000298289	T	0.47177	0.85	4.16	4.16	0.48862	Ribosomal protein, zinc-binding domain (1);	0.167201	0.41712	U	0.000824	T	0.35393	0.0930	.	.	.	0.29253	N	0.87184	B	0.06786	0.001	B	0.17433	0.018	T	0.15723	-1.0427	9	0.28530	T	0.3	-21.5435	14.925	0.70871	0.0:1.0:0.0:0.0	.	16	Q969Q0	RL36L_HUMAN	D	16	ENSP00000346012:G16D	ENSP00000346012:G16D	G	-	2	0	RPL36AL	49155526	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.151000	0.64875	2.652000	0.90054	0.579000	0.79373	GGC		0.438	RPL36AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276808.2			27	49	0	0	0	1	0	27	49					T	50085776	C	T	50085776	3	4	435	1	0	0	0	0	1	0	0	0	13588	739	26	3	277	3	RPL36AL	14	50085776	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2742495	50085776	57263764	6207	27132											
MGAT2	4247	broad.mit.edu	37	chr14	50088160	50088160	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcggtggggaccacccCtctgtggctgtgggcatccg	3	7	17	14	3	1	0	0	0	1	0	2	1	2	1	5	6	0	2	5	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:50088160C>A	ENST00000305386.2	+	1	672	c.174C>A	c.(172-174)ccC>ccA	p.P58P	RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	58					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GGGACCACCCCTCTGTGGCTG	0.726																																						ENST00000305386.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11						c.(172-174)ccC>ccA		mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							13	15	14					14																	50088160		2175	4257	6432	SO:0001819	synonymous_variant	4247				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	g.chr14:50088160C>A	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.174C>A	14.37:g.50088160C>A						RP11-649E7.5_ENST00000555043.1_RNA	p.P58P	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN			1	672	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		58					B3KPC5|B3KQM0	Silent	SNP	ENST00000305386.2	37	c.174C>A	CCDS9690.1																																																																																				0.726	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		7	15	1	0	0.0293803	1	0.0295506	7	15					A	50088160	C	A	50088160	2	1	435	1	0	0	0	0	0	0	0	1	9543	668	24	5		5	MGAT2	14	50088160	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2384	50088160	57261380	6208	27133											
POLE2	5427	broad.mit.edu	37	chr14	50131364	50131364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgctaagacaaagcatGcctctgtgtataaaccacta	13	11	6	11	0	2	1	0	0	2	1	2	1	2	1	2	0	4	3	2	0	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:50131364G>A	ENST00000216367.5	-	9	761	c.662C>T	c.(661-663)gCa>gTa	p.A221V	POLE2_ENST00000554396.1_Missense_Mutation_p.A221V|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000539565.2_Missense_Mutation_p.A195V	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	221					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			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)				Cladribine(DB00242)	GACAAAGCATGCCTCTGTGTA	0.358																																						ENST00000539565.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10						c.(583-585)gCa>gTa		polymerase (DNA directed), epsilon 2, accessory subunit							130	128	129					14																	50131364		2203	4298	6501	SO:0001583	missense	5427				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	g.chr14:50131364G>A	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"DNA polymerases"	9178	protein-coding gene	gene with protein product	"DNA polymerase epsilon subunit B"	602670	"polymerase (DNA directed), epsilon 2 (p59 subunit)"			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.662C>T	14.37:g.50131364G>A	ENSP00000216367:p.Ala221Val					POLE2_ENST00000554396.1_Missense_Mutation_p.A221V|POLE2_ENST00000216367.5_Missense_Mutation_p.A221V|POLE2_ENST00000556584.1_5'UTR	p.A195V	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN			8	802	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		221					A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	37	c.584C>T	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645922	0.67358	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.30714	1.93;1.94;1.52	5.1	5.1	0.69264	.	0.284303	0.40640	N	0.001052	T	0.26048	0.0635	N	0.22421	0.69	0.32562	N	0.530959	B	0.19583	0.037	B	0.18263	0.021	T	0.28522	-1.0041	10	0.87932	D	0	-8.7743	18.8722	0.92320	0.0:0.0:1.0:0.0	.	221	P56282	DPOE2_HUMAN	V	221;195;221	ENSP00000216367:A221V;ENSP00000446313:A195V;ENSP00000451621:A221V	ENSP00000216367:A221V	A	-	2	0	POLE2	49201114	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	7.807000	0.86032	2.544000	0.85801	0.491000	0.48974	GCA		0.358	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		6	86	0	0	0	1	0	6	86					A	50131364	G	A	50131364	3	1	435	1	0	0	0	0	1	0	0	0	12197	1319	46	3	965	3	POLE2	14	50131364	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43204	50131364	57218176	6209	27134											
SDCCAG1	9147	broad.mit.edu	37	chr14	50301159	50301159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagtgttcaatgagagctgGtccataggctataaatgcag	13	10	11	7	0	1	1	1	1	0	1	2	2	2	1	1	2	2	4	1	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:50301159G>A	ENST00000298310.5	-	7	1032	c.583C>T	c.(583-585)Cca>Tca	p.P195S	NEMF_ENST00000545773.1_Missense_Mutation_p.P153S|NEMF_ENST00000546046.1_Missense_Mutation_p.P195S|AL627171.1_ENST00000358799.1_Intron|NEMF_ENST00000556925.1_5'Flank			O60524	NEMF_HUMAN	nuclear export mediator factor	195					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						ATGAGAGCTGGTCCATAGGCT	0.353																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(583-585)Cca>Tca		nuclear export mediator factor							81	78	79					14																	50301159		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50301159G>A	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"serologically defined colon cancer antigen 1"	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.583C>T	14.37:g.50301159G>A	ENSP00000298310:p.Pro195Ser					AL627171.1_ENST00000358799.1_Intron|NEMF_ENST00000545773.1_Missense_Mutation_p.P153S|NEMF_ENST00000546046.1_Missense_Mutation_p.P195S	p.P195S			O60524	NEMF_HUMAN			7	1032	-			195					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.583C>T	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907394	0.33628	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000555970;ENST00000554626	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.22	0.621	0.17643	Fibronectin-binding A, N-terminal (1);	0.157730	0.56097	N	0.000031	T	0.37100	0.0991	L	0.60957	1.885	0.80722	D	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.14578	0.011;0.011;0.007;0.007	T	0.11108	-1.0601	10	0.23302	T	0.38	-1.5152	7.1907	0.25824	0.2568:0.4612:0.2821:0.0	.	195;195;153;195	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	S	195;153;195;153;153	ENSP00000298310:P195S;ENSP00000438309:P153S;ENSP00000441016:P195S;ENSP00000452540:P153S	ENSP00000298310:P195S	P	-	1	0	NEMF	49370909	1.000000	0.71417	0.849000	0.33467	0.964000	0.63967	2.776000	0.47709	0.280000	0.22209	0.567000	0.79289	CCA		0.353	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		9	33	0	0	0	1	0	9	33					A	50301159	G	A	50301159	3	1	435	1	0	0	0	0	1	0	0	0	13957	1261	44	3	2755	3	SDCCAG1	14	50301159	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	169795	50301159	57048381	6210	27135											
SOS2	6655	broad.mit.edu	37	chr14	50585340	50585340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgaatctctgtgaagatGccccagtggaggtggctgaa	9	10	14	8	0	2	4	0	3	2	1	3	5	2	5	2	3	1	1	2	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:50585340G>A	ENST00000216373.5	-	23	3995	c.3721C>T	c.(3721-3723)Cat>Tat	p.H1241Y	SOS2_ENST00000543680.1_Missense_Mutation_p.H1208Y|VCPKMT_ENST00000395860.2_5'Flank|VCPKMT_ENST00000395859.2_5'Flank	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1241					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)					CTGTGAAGATGCCCCAGTGGA	0.517																																						ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(3721-3723)Cat>Tat		son of sevenless homolog 2 (Drosophila)							134	125	128					14																	50585340		2203	4300	6503	SO:0001583	missense	6655				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	g.chr14:50585340G>A	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3721C>T	14.37:g.50585340G>A	ENSP00000216373:p.His1241Tyr					SOS2_ENST00000543680.1_Missense_Mutation_p.H1208Y	p.H1241Y	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			23	3995	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		1241					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.3721C>T	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199438	0.38806	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.79141	-1.24;-1.1	5.33	5.33	0.75918	.	0.053328	0.64402	D	0.000001	T	0.67002	0.2847	L	0.36672	1.1	0.40756	D	0.982965	B;B	0.32573	0.376;0.376	B;B	0.29176	0.099;0.099	T	0.66056	-0.6018	10	0.06099	T	0.92	.	19.0237	0.92925	0.0:0.0:1.0:0.0	.	1208;1241	B7ZKT6;Q07890	.;SOS2_HUMAN	Y	1241;1208	ENSP00000216373:H1241Y;ENSP00000445328:H1208Y	ENSP00000216373:H1241Y	H	-	1	0	SOS2	49655090	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.527000	0.90594	2.470000	0.83445	0.563000	0.77884	CAT		0.517	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			29	35	0	0	0	1	0	29	35					A	50585340	G	A	50585340	3	1	435	1	0	0	0	0	1	0	0	0	14937	1319	46	3	281	3	SOS2	14	50585340	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	284181	50585340	56764200	6211	27136											
L2HGDH	79944	broad.mit.edu	37	chr14	50734519	50734519	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcactgaagtcaaagggtCtgtaaccctctcgtttaaag	11	11	10	9	1	3	1	1	1	2	0	4	1	3	1	1	2	1	3	1	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:50734519C>A	ENST00000267436.4	-	8	1413	c.1016G>T	c.(1015-1017)aGa>aTa	p.R339I	L2HGDH_ENST00000261699.4_Missense_Mutation_p.R339I|L2HGDH_ENST00000421284.3_Missense_Mutation_p.R339I			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	339					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					GTCAAAGGGTCTGTAACCCTC	0.373																																						ENST00000267436.4																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10						c.(1015-1017)aGa>aTa		L-2-hydroxyglutarate dehydrogenase							99	88	92					14																	50734519		2203	4300	6503	SO:0001583	missense	79944				2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity	g.chr14:50734519C>A		CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"2-hydroxyglutarate dehydrogenase"	609584	"chromosome 14 open reading frame 160"	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.1016G>T	14.37:g.50734519C>A	ENSP00000267436:p.Arg339Ile					L2HGDH_ENST00000421284.3_Missense_Mutation_p.R339I|L2HGDH_ENST00000261699.4_Missense_Mutation_p.R339I	p.R339I			Q9H9P8	L2HDH_HUMAN			8	1413	-	all_epithelial(31;0.000599)|Breast(41;0.0102)		339					Q9BRR1	Missense_Mutation	SNP	ENST00000267436.4	37	c.1016G>T	CCDS9698.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747157	0.69418	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284	T;T;T	0.81330	-1.48;-1.48;-1.48	5.57	0.527	0.17084	FAD dependent oxidoreductase (1);	0.430242	0.30649	N	0.009168	T	0.81678	0.4873	M	0.68952	2.095	0.80722	D	1	P;P	0.48834	0.916;0.544	P;P	0.51550	0.673;0.555	T	0.79911	-0.1603	10	0.62326	D	0.03	-17.7998	10.2247	0.43218	0.0:0.4706:0.0:0.5294	.	339;339	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	I	339	ENSP00000261699:R339I;ENSP00000267436:R339I;ENSP00000405559:R339I	ENSP00000261699:R339I	R	-	2	0	L2HGDH	49804269	0.999000	0.42202	0.997000	0.53966	0.993000	0.82548	0.875000	0.28079	-0.005000	0.14395	0.655000	0.94253	AGA		0.373	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	NM_024884		40	68	1	0	6.5261e-18	1	7.19712e-18	40	68					A	50734519	C	A	50734519	3	1	435	1	0	0	0	0	1	0	0	0	8590	913	32	5	387	5	L2HGDH	14	50734519	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	149179	50734519	56615021	6212	27137											
L2HGDH	79944	broad.mit.edu	37	chr14	50750647	50750647	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataccttttacttcaaaattGgtcaagacagagccacctgc	13	11	6	11	0	2	2	2	0	0	2	2	2	2	2	3	1	4	0	3	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:50750647G>A	ENST00000267436.4	-	5	1042	c.645C>T	c.(643-645)acC>acT	p.T215T	L2HGDH_ENST00000555610.1_3'UTR|L2HGDH_ENST00000555423.1_Silent_p.T215T|L2HGDH_ENST00000261699.4_Silent_p.T215T|L2HGDH_ENST00000421284.3_Silent_p.T215T			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	215					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					CTTCAAAATTGGTCAAGACAG	0.413																																						ENST00000267436.4																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10						c.(643-645)acC>acT		L-2-hydroxyglutarate dehydrogenase							84	88	87					14																	50750647		2203	4300	6503	SO:0001819	synonymous_variant	79944				2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity	g.chr14:50750647G>A		CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"2-hydroxyglutarate dehydrogenase"	609584	"chromosome 14 open reading frame 160"	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.645C>T	14.37:g.50750647G>A						L2HGDH_ENST00000421284.3_Silent_p.T215T|L2HGDH_ENST00000555610.1_3'UTR|L2HGDH_ENST00000555423.1_Silent_p.T215T|L2HGDH_ENST00000261699.4_Silent_p.T215T	p.T215T			Q9H9P8	L2HDH_HUMAN			5	1042	-	all_epithelial(31;0.000599)|Breast(41;0.0102)		215					Q9BRR1	Silent	SNP	ENST00000267436.4	37	c.645C>T	CCDS9698.1																																																																																				0.413	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	NM_024884		36	61	0	0	0	1	0	36	61					A	50750647	G	A	50750647	2	1	435	1	0	0	0	0	0	0	0	1	8590	1335	47	3		3	L2HGDH	14	50750647	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16128	50750647	56598893	6213	27138											
CDKL1	8814	broad.mit.edu	37	chr14	50796808	50796808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctttaaatgtttggaaaaCggtagttaagtttcttggta	11	17	9	4	1	1	0	0	0	1	0	2	1	2	1	1	3	1	5	1	3	7	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:50796808C>T	ENST00000395834.1	-	9	1088	c.1061G>A	c.(1060-1062)cGt>cAt	p.R354H	ATP5S_ENST00000358473.1_Intron|RP11-247L20.4_ENST00000555403.1_lincRNA	NM_004196.3	NP_004187.2	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	353					heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GTTTGGAAAACGGTAGTTAAG	0.343																																						ENST00000395834.1																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12						c.(1060-1062)cGt>cAt		cyclin-dependent kinase-like 1 (CDC2-related kinase)							100	92	95					14																	50796808		2203	4300	6503	SO:0001583	missense	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50796808C>T	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"Cyclin-dependent kinases"	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000395834.1:c.1061G>A	14.37:g.50796808C>T	ENSP00000379176:p.Arg354His					ATP5S_ENST00000358473.1_Intron	p.R354H	NM_004196.3	NP_004187.2	Q00532	CDKL1_HUMAN			9	1088	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		353					Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000395834.1	37	c.1061G>A	CCDS9699.1	.	.	.	.	.	.	.	.	.	.	C	1.476	-0.558387	0.03967	.	.	ENSG00000100490	ENST00000395834	T	0.67171	-0.25	5.11	-7.16	0.01516	.	.	.	.	.	T	0.36908	0.0984	N	0.05124	-0.11	0.54753	D	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.42155	-0.9468	9	0.02654	T	1	.	17.0088	0.86400	0.0:0.3446:0.0:0.6554	.	353	Q00532	CDKL1_HUMAN	H	354	ENSP00000379176:R354H	ENSP00000379176:R354H	R	-	2	0	CDKL1	49866558	0.000000	0.05858	0.001000	0.08648	0.791000	0.44710	-0.357000	0.07651	-1.878000	0.01128	-1.871000	0.00553	CGT		0.343	CDKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276872.2			17	45	0	0	0	1	0	17	45					T	50796808	C	T	50796808	3	4	435	1	0	0	0	0	1	0	0	0	3153	536	19	1	19	1	CDKL1	14	50796808	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	46161	50796808	56552732	6214	27139											
MAP4K5	11183	broad.mit.edu	37	chr14	50904244	50904244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaatctttgttgttaaaGcgaattttctgaaaacgtaa	14	14	8	5	2	2	1	0	1	2	0	2	3	2	2	0	1	2	3	0	1	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:50904244G>A	ENST00000013125.4	-	25	2150	c.1832C>T	c.(1831-1833)gCt>gTt	p.A611V		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	611	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TGTTGTTAAAGCGAATTTTCT	0.343																																						ENST00000013125.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1831-1833)gCt>gTt		mitogen-activated protein kinase kinase kinase kinase 5							81	70	74					14																	50904244		1846	4108	5954	SO:0001583	missense	11183				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:50904244G>A	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6867	protein-coding gene	gene with protein product	"germinal center kinase-related"	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1832C>T	14.37:g.50904244G>A	ENSP00000013125:p.Ala611Val						p.A611V	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN			25	2150	-	all_epithelial(31;0.000415)|Breast(41;0.0102)		611			CNH.		Q8IYF6	Missense_Mutation	SNP	ENST00000013125.4	37	c.1832C>T		.	.	.	.	.	.	.	.	.	.	G	24.1	4.499200	0.85069	.	.	ENSG00000012983	ENST00000013125	T	0.75367	-0.93	4.83	4.83	0.62350	Citron-like (3);	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	M	0.63428	1.95	0.80722	D	1	P;D	0.76494	0.688;0.999	B;D	0.83275	0.393;0.996	D	0.85623	0.1265	10	0.52906	T	0.07	.	17.91	0.88931	0.0:0.0:1.0:0.0	.	611;611	B2R928;Q9Y4K4	.;M4K5_HUMAN	V	611	ENSP00000013125:A611V	ENSP00000013125:A611V	A	-	2	0	MAP4K5	49973994	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	7.580000	0.82523	2.233000	0.73108	0.460000	0.39030	GCT		0.343	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575		4	6	0	0	0	1	0	4	6					A	50904244	G	A	50904244	3	1	435	1	0	0	0	0	1	0	0	0	9263	971	34	3	740	3	MAP4K5	14	50904244	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	107436	50904244	56445296	6215	27140											
NIN	51199	broad.mit.edu	37	chr14	51192762	51192762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattcgttcctccatgacaGttaccagttgttcctggttt	6	17	7	11	1	1	1	1	1	0	0	5	1	4	1	4	1	1	5	4	1	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:51192762G>A	ENST00000382041.3	-	30	6291	c.6101C>T	c.(6100-6102)aCt>aTt	p.T2034I	NIN_ENST00000324330.9_3'UTR|NIN_ENST00000245441.5_Missense_Mutation_p.T2034I|NIN_ENST00000530997.2_Missense_Mutation_p.T2034I|NIN_ENST00000382043.4_Missense_Mutation_p.T1321I|NIN_ENST00000389868.3_3'UTR|RP11-248J18.3_ENST00000602615.1_RNA	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2034					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			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)					CTCCATGACAGTTACCAGTTG	0.388			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				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						c.(6100-6102)aCt>aTt		ninein (GSK3B interacting protein)							155	136	142					14																	51192762		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51192762G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.6101C>T	14.37:g.51192762G>A	ENSP00000371472:p.Thr2034Ile					NIN_ENST00000530997.2_Missense_Mutation_p.T2034I|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000382041.3_Missense_Mutation_p.T2034I|NIN_ENST00000382043.4_Missense_Mutation_p.T1321I|NIN_ENST00000324330.9_3'UTR	p.T2034I	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			30	6291	-	all_epithelial(31;0.00244)|Breast(41;0.127)		2034					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.6101C>T	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886645	0.33348	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000382043;ENST00000324292;ENST00000382041	T;T;T	0.29917	1.55;2.71;3.23	5.93	-1.29	0.09288	.	0.782660	0.11689	N	0.539071	T	0.19725	0.0474	L	0.44542	1.39	0.09310	N	0.999999	B;B;B;B	0.30439	0.279;0.279;0.112;0.279	B;B;B;B	0.28139	0.086;0.086;0.039;0.086	T	0.20371	-1.0277	10	0.44086	T	0.13	-0.7316	2.7873	0.05377	0.1561:0.1025:0.201:0.5404	.	2040;2034;1321;2034	Q8N4C6-5;Q8N4C6;Q5BKU3;Q8N4C6-7	.;NIN_HUMAN;.;.	I	2034;2017;1321;2040;2034	ENSP00000245441:T2034I;ENSP00000371474:T1321I;ENSP00000371472:T2034I	ENSP00000245441:T2034I	T	-	2	0	NIN	50262512	0.677000	0.27577	0.098000	0.21074	0.778000	0.44026	1.053000	0.30442	0.071000	0.16664	-0.176000	0.13171	ACT		0.388	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		30	31	0	0	0	1	0	30	31					A	51192762	G	A	51192762	3	1	435	1	0	0	0	0	1	0	0	0	10417	1029	36	3	389	3	NIN	14	51192762	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	288518	51192762	56156778	6216	27141											
NIN	51199	broad.mit.edu	37	chr14	51227074	51227074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcttttcataatggcGcacctgaaggcacagagtga	11	9	11	10	1	1	3	1	2	0	1	1	3	1	3	1	2	2	4	1	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:51227074G>A	ENST00000382041.3	-	17	2090	c.1900C>T	c.(1900-1902)Cgc>Tgc	p.R634C	NIN_ENST00000324330.9_Missense_Mutation_p.R634C|NIN_ENST00000245441.5_Missense_Mutation_p.R634C|NIN_ENST00000530997.2_Missense_Mutation_p.R634C|NIN_ENST00000382043.4_Missense_Mutation_p.R634C|NIN_ENST00000389868.3_Missense_Mutation_p.R634C|NIN_ENST00000453196.1_Missense_Mutation_p.R634C	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	634					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			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)					TCATAATGGCGCACCTGAAGG	0.443			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				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						c.(1900-1902)Cgc>Tgc		ninein (GSK3B interacting protein)							45	46	46					14																	51227074		2137	4220	6357	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51227074G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1900C>T	14.37:g.51227074G>A	ENSP00000371472:p.Arg634Cys					NIN_ENST00000530997.2_Missense_Mutation_p.R634C|NIN_ENST00000453196.1_Missense_Mutation_p.R634C|NIN_ENST00000389868.3_Missense_Mutation_p.R634C|NIN_ENST00000382041.3_Missense_Mutation_p.R634C|NIN_ENST00000382043.4_Missense_Mutation_p.R634C|NIN_ENST00000324330.9_Missense_Mutation_p.R634C	p.R634C	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			17	2090	-	all_epithelial(31;0.00244)|Breast(41;0.127)		634					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.1900C>T	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.84|12.84	2.057688|2.057688	0.36277|0.36277	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	.|T;T;T;T;T;T	.|0.12147	.|3.47;2.71;2.71;3.2;3.2;3.21	5.93|5.93	1.68|1.68	0.24146|0.24146	.|.	.|1.334670	.|0.04379	.|N	.|0.360457	T|T	0.21718|0.21718	0.0523|0.0523	L|L	0.47716|0.47716	1.5|1.5	0.32360|0.32360	N|N	0.557369|0.557369	.|D;D;D;B;D	.|0.61080	.|0.989;0.988;0.975;0.001;0.981	.|P;P;P;B;P	.|0.50708	.|0.646;0.526;0.613;0.0;0.648	T|T	0.27123|0.27123	-1.0083|-1.0083	5|10	.|0.59425	.|D	.|0.04	3.2353|3.2353	8.695|8.695	0.34289|0.34289	0.0761:0.0:0.4835:0.4405|0.0761:0.0:0.4835:0.4405	.|.	.|640;634;634;634;634	.|Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.|.;.;NIN_HUMAN;.;.	V|C	124|634;617;634;634;640;634;634;634	.|ENSP00000245441:R634C;ENSP00000374518:R634C;ENSP00000371474:R634C;ENSP00000371472:R634C;ENSP00000324210:R634C;ENSP00000412391:R634C	.|ENSP00000245441:R634C	A|R	-|-	2|1	0|0	NIN|NIN	50296824|50296824	0.767000|0.767000	0.28508|0.28508	0.705000|0.705000	0.30386|0.30386	0.022000|0.022000	0.10575|0.10575	1.077000|1.077000	0.30741|0.30741	0.844000|0.844000	0.35094|0.35094	0.591000|0.591000	0.81541|0.81541	GCG|CGC		0.443	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		16	25	0	0	0	1	0	16	25					A	51227074	G	A	51227074	3	1	435	1	0	0	0	0	1	0	0	0	10417	1087	38	1	4709	1	NIN	14	51227074	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	34312	51227074	56122466	6217	27142											
NIN	51199	broad.mit.edu	37	chr14	51239164	51239164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgatgaggttgtggtaCgtcgtccactctcatcgaaa	8	13	11	9	3	1	2	1	2	1	0	5	3	2	2	1	2	2	3	1	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:51239164C>T	ENST00000382041.3	-	9	1026	c.836G>A	c.(835-837)cGt>cAt	p.R279H	NIN_ENST00000324330.9_Missense_Mutation_p.R279H|NIN_ENST00000245441.5_Missense_Mutation_p.R279H|NIN_ENST00000530997.2_Missense_Mutation_p.R279H|NIN_ENST00000382043.4_Missense_Mutation_p.R279H|NIN_ENST00000389868.3_Missense_Mutation_p.R279H|NIN_ENST00000453196.1_Missense_Mutation_p.R279H	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	279					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			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)					GGTTGTGGTACGTCGTCCACT	0.502			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				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						c.(835-837)cGt>cAt		ninein (GSK3B interacting protein)							103	81	88					14																	51239164		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51239164C>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.836G>A	14.37:g.51239164C>T	ENSP00000371472:p.Arg279His					NIN_ENST00000530997.2_Missense_Mutation_p.R279H|NIN_ENST00000453196.1_Missense_Mutation_p.R279H|NIN_ENST00000389868.3_Missense_Mutation_p.R279H|NIN_ENST00000382041.3_Missense_Mutation_p.R279H|NIN_ENST00000382043.4_Missense_Mutation_p.R279H|NIN_ENST00000324330.9_Missense_Mutation_p.R279H	p.R279H	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			9	1026	-	all_epithelial(31;0.00244)|Breast(41;0.127)		279					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.836G>A	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816944	0.90790	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.65	5.65	0.86999	EF-hand-like domain (1);	0.093316	0.64402	D	0.000001	T	0.44540	0.1298	L	0.39397	1.21	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.997;0.996	T	0.12142	-1.0559	10	0.42905	T	0.14	-11.13	18.7058	0.91637	0.0:1.0:0.0:0.0	.	285;279;279;279;279	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	H	279;279;279;279;285;279;279;279;241	ENSP00000245441:R279H;ENSP00000374518:R279H;ENSP00000371474:R279H;ENSP00000371472:R279H;ENSP00000324210:R279H;ENSP00000412391:R279H;ENSP00000398641:R241H	ENSP00000245441:R279H	R	-	2	0	NIN	50308914	1.000000	0.71417	0.867000	0.34043	0.663000	0.39108	7.437000	0.80417	2.670000	0.90874	0.563000	0.77884	CGT		0.502	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		19	15	0	0	0	1	0	19	15					T	51239164	C	T	51239164	3	4	435	1	0	0	0	0	1	0	0	0	10417	536	19	1	5805	1	NIN	14	51239164	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12090	51239164	56110376	6218	27143											
PYGL	5836	broad.mit.edu	37	chr14	51372228	51372228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcactggagaatttccccGaggcagctatgtttttgagt	8	13	12	8	1	1	2	1	1	0	1	2	4	2	2	2	3	1	3	2	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:51372228G>A	ENST00000216392.7	-	20	2758	c.2426C>T	c.(2425-2427)tCg>tTg	p.S809L	PYGL_ENST00000532462.1_Intron|PYGL_ENST00000544180.2_Missense_Mutation_p.S775L	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	809					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			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)	GAATTTCCCCGAGGCAGCTAT	0.423																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(2425-2427)tCg>tTg		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						157	149	152					14																	51372228		2203	4300	6503	SO:0001583	missense	5836				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	g.chr14:51372228G>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"Glycogen phosphorylases"	9725	protein-coding gene	gene with protein product	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	613741	"phosphorylase, glycogen; liver"			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2426C>T	14.37:g.51372228G>A	ENSP00000216392:p.Ser809Leu					PYGL_ENST00000544180.2_Missense_Mutation_p.S775L|PYGL_ENST00000532462.1_Intron	p.S809L	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			20	2758	-	all_epithelial(31;0.00825)|Breast(41;0.148)		809					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.2426C>T	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118057	0.77323	.	.	ENSG00000100504	ENST00000544180;ENST00000216392	D;D	0.93133	-3.17;-3.17	6.07	5.17	0.71159	.	0.291575	0.38897	N	0.001522	D	0.95629	0.8579	M	0.80028	2.48	0.48087	D	0.999586	B;B;D	0.55385	0.086;0.378;0.971	B;B;P	0.55713	0.057;0.362;0.782	D	0.95440	0.8524	10	0.51188	T	0.08	-2.3533	15.277	0.73750	0.0:0.0:0.8586:0.1414	.	775;775;809	F5H816;B4DUB7;P06737	.;.;PYGL_HUMAN	L	775;809	ENSP00000443787:S775L;ENSP00000216392:S809L	ENSP00000216392:S809L	S	-	2	0	PYGL	50441978	1.000000	0.71417	0.867000	0.34043	0.572000	0.35998	9.869000	0.99810	1.534000	0.49203	0.655000	0.94253	TCG		0.423	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		51	80	0	0	0	1	0	51	80					A	51372228	G	A	51372228	3	1	435	1	0	0	0	0	1	0	0	0	12861	1059	37	2	121	2	PYGL	14	51372228	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	133064	51372228	55977312	6219	27144											
TRIM9	114088	broad.mit.edu	37	chr14	51492006	51492006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatctgctggaccatgttgcGcagctgtaccagaaactcct	9	10	10	12	1	1	1	0	0	1	1	2	3	2	2	3	1	5	5	3	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:51492006G>A	ENST00000298355.3	-	2	2016	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	TRIM9_ENST00000338969.5_Missense_Mutation_p.R299C|TRIM9_ENST00000360392.4_Missense_Mutation_p.R299C	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	299					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			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)					ACCATGTTGCGCAGCTGTACC	0.552																																						ENST00000298355.3																			0				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						c.(895-897)Cgc>Tgc		tripartite motif containing 9							216	189	198					14																	51492006		2203	4300	6503	SO:0001583	missense	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51492006G>A	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.895C>T	14.37:g.51492006G>A	ENSP00000298355:p.Arg299Cys					TRIM9_ENST00000360392.4_Missense_Mutation_p.R299C|TRIM9_ENST00000338969.5_Missense_Mutation_p.R299C	p.R299C	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN			2	2016	-	all_epithelial(31;0.00418)|Breast(41;0.148)		299					D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	c.895C>T	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995876	0.54147	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.71222	-0.42;-0.55;0.49	5.87	5.87	0.94306	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79143	0.4396	L	0.40543	1.245	0.58432	D	0.999998	B;D;B	0.76494	0.015;0.999;0.009	B;D;B	0.65010	0.014;0.931;0.006	T	0.79107	-0.1939	10	0.66056	D	0.02	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	299;299;299	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	C	299	ENSP00000298355:R299C;ENSP00000342970:R299C;ENSP00000353561:R299C	ENSP00000298355:R299C	R	-	1	0	TRIM9	50561756	0.994000	0.37717	0.992000	0.48379	0.519000	0.34347	2.420000	0.44679	2.941000	0.99782	0.655000	0.94253	CGC		0.552	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		69	114	0	0	0	1	0	69	114					A	51492006	G	A	51492006	3	1	435	1	0	0	0	0	1	0	0	0	16546	1087	38	1	1323	1	TRIM9	14	51492006	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	119778	51492006	55857534	6220	27145											
FRMD6	122786	broad.mit.edu	37	chr14	52186847	52186847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagctggaaaaacggtcgCgggccagcgggagcagtgcg	10	3	17	11	5	0	0	0	0	0	0	1	2	0	2	2	4	5	2	2	4	2	0	rs35856363		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:52186847C>T	ENST00000344768.5	+	11	1295	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	FRMD6_ENST00000356218.4_Missense_Mutation_p.R359W|FRMD6_ENST00000395718.2_Missense_Mutation_p.R359W|FRMD6_ENST00000553556.1_Missense_Mutation_p.R9W|FRMD6_ENST00000554167.1_Missense_Mutation_p.R290W			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	367					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AAAACGGTCGCGGGCCAGCGG	0.582																																						ENST00000395718.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1075-1077)Cgg>Tgg		FERM domain containing 6							59	58	58					14																	52186847		2203	4300	6503	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52186847C>T	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1099C>T	14.37:g.52186847C>T	ENSP00000343899:p.Arg367Trp					FRMD6_ENST00000356218.4_Missense_Mutation_p.R359W|FRMD6_ENST00000553556.1_Missense_Mutation_p.R9W|FRMD6_ENST00000554167.1_Missense_Mutation_p.R290W|FRMD6_ENST00000344768.5_Missense_Mutation_p.R367W	p.R359W	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN			11	1360	+	all_epithelial(31;0.0163)|Breast(41;0.089)		367					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.1075C>T	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772323	0.69992	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555197;ENST00000555703;ENST00000553556	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.81711	0.4880	N	0.24115	0.695	0.80722	D	1	D;D;D	0.64830	0.994;0.99;0.994	P;P;P	0.53224	0.721;0.53;0.502	D	0.83896	0.0287	10	0.87932	D	0	.	15.9936	0.80225	0.1352:0.8648:0.0:0.0	rs35856363	290;367;359	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	W	359;359;367;290;97;9;9	ENSP00000348550:R359W;ENSP00000379068:R359W;ENSP00000343899:R367W;ENSP00000451977:R290W;ENSP00000451157:R97W	ENSP00000343899:R367W	R	+	1	2	FRMD6	51256597	1.000000	0.71417	0.969000	0.41365	0.075000	0.17131	4.814000	0.62627	2.838000	0.97847	0.591000	0.81541	CGG		0.582	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		11	14	0	0	0	1	0	11	14					T	52186847	C	T	52186847	3	4	435	1	0	0	0	0	1	0	0	0	6054	759	27	1	1113	1	FRMD6	14	52186847	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	694841	52186847	55162693	6221	27146											
GNG2	54331	broad.mit.edu	37	chr14	52433395	52433395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggagaagaagtttttctgtgCcatcctttaagtctttgaga	10	15	10	6	0	2	3	0	1	2	3	3	5	3	3	2	1	1	1	2	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:52433395C>T	ENST00000335281.4	+	3	612	c.206C>T	c.(205-207)gCc>gTc	p.A69V	GNG2_ENST00000557376.1_Missense_Mutation_p.A108V|GNG2_ENST00000553432.1_Missense_Mutation_p.A100V|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000555472.1_Missense_Mutation_p.A69V|GNG2_ENST00000556752.1_Missense_Mutation_p.A69V|GNG2_ENST00000556766.1_Missense_Mutation_p.A69V|GNG2_ENST00000554736.1_Missense_Mutation_p.A69V|RP11-463J10.3_ENST00000553603.1_RNA	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	69					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|platelet activation (GO:0030168)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|signal transducer activity (GO:0004871)			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	TTTTTCTGTGCCATCCTTTAA	0.512																																						ENST00000335281.4																			0				lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(205-207)gCc>gTc		guanine nucleotide binding protein (G protein), gamma 2	Halothane(DB01159)						75	82	79					14																	52433395		2203	4300	6503	SO:0001583	missense	54331				cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity	g.chr14:52433395C>T	AK001024	CCDS32082.1	14q21	2008-07-28				ENSG00000186469			4404	protein-coding gene	gene with protein product		606981				10833460	Standard	NM_053064		Approved		uc001wzj.3	P59768		ENST00000335281.4:c.206C>T	14.37:g.52433395C>T	ENSP00000334448:p.Ala69Val					GNG2_ENST00000556766.1_Missense_Mutation_p.A69V|GNG2_ENST00000555472.1_Missense_Mutation_p.A69V|GNG2_ENST00000554736.1_Missense_Mutation_p.A69V|GNG2_ENST00000556752.1_Missense_Mutation_p.A69V|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000557376.1_Missense_Mutation_p.A108V|GNG2_ENST00000553432.1_Missense_Mutation_p.A100V	p.A69V	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN			3	612	+	all_epithelial(31;0.0659)|Breast(41;0.0684)		69					Q5JPE2|Q6P9A9	Missense_Mutation	SNP	ENST00000335281.4	37	c.206C>T	CCDS32082.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538996	0.65085	.	.	ENSG00000186469	ENST00000553432;ENST00000557376;ENST00000335281;ENST00000555472;ENST00000556766;ENST00000554736;ENST00000556752	T;T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11;2.11	5.03	5.03	0.67393	G-protein gamma domain (2);	0.102292	0.64402	D	0.000003	T	0.14270	0.0345	.	.	.	0.80722	D	1	B	0.31752	0.338	B	0.33121	0.158	T	0.09930	-1.0652	9	0.14252	T	0.57	-21.0289	13.1314	0.59385	0.0:0.9135:0.0:0.0865	.	69	P59768	GBG2_HUMAN	V	100;108;69;69;69;69;69	ENSP00000451279:A100V;ENSP00000450758:A108V;ENSP00000334448:A69V;ENSP00000451102:A69V;ENSP00000451231:A69V;ENSP00000452014:A69V;ENSP00000451576:A69V	ENSP00000334448:A69V	A	+	2	0	GNG2	51503145	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.948000	0.63590	2.700000	0.92200	0.591000	0.81541	GCC		0.512	GNG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411585.1			30	62	0	0	0	1	0	30	62					T	52433395	C	T	52433395	3	4	435	1	0	0	0	0	1	0	0	0	6527	739	26	3	212	3	GNG2	14	52433395	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	246548	52433395	54916145	6222	27147											
NID2	22795	broad.mit.edu	37	chr14	52509599	52509599	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcatgccgggagcattGtctgtggttgtgttcacagg	7	11	16	7	1	2	0	1	0	1	0	2	2	2	1	1	4	2	4	1	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:52509599G>A	ENST00000216286.5	-	6	1479	c.1480C>T	c.(1480-1482)Caa>Taa	p.Q494*	NID2_ENST00000541773.1_Nonsense_Mutation_p.Q441*	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	494	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			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)					CGGGAGCATTGTCTGTGGTTG	0.458																																						ENST00000216286.5																			0				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						c.(1480-1482)Caa>Taa		nidogen 2 (osteonidogen)							168	136	147					14																	52509599		2203	4300	6503	SO:0001587	stop_gained	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52509599G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1480C>T	14.37:g.52509599G>A	ENSP00000216286:p.Gln494*					NID2_ENST00000541773.1_Nonsense_Mutation_p.Q441*	p.Q494*	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			6	1479	-	Breast(41;0.0639)|all_epithelial(31;0.123)		494			EGF-like 1.		A8K6I7|B4DU19|O43710	Nonsense_Mutation	SNP	ENST00000216286.5	37	c.1480C>T	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	36	5.859428	0.97036	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	.	.	.	5.77	4.87	0.63330	.	0.773311	0.12797	N	0.438324	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	11.7194	0.51672	0.0:0.1339:0.7269:0.1392	.	.	.	.	X	494;441;496	.	ENSP00000216286:Q494X	Q	-	1	0	NID2	51579349	1.000000	0.71417	0.019000	0.16419	0.571000	0.35966	4.974000	0.63771	1.549000	0.49425	0.655000	0.94253	CAA		0.458	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			17	44	0	0	0	1	0	17	44					A	52509599	G	A	52509599	4	1	435	1	0	0	0	0	0	1	0	0	10415	1386	48	3	2715	3	NID2	14	52509599	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	76204	52509599	54839941	6223	27148											
PTGER2	5732	broad.mit.edu	37	chr14	52781866	52781866	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgcttacctgcagctgtaCgccaccctgctgctgcttct	5	11	8	17	2	1	0	0	0	1	0	1	0	1	0	4	0	7	7	4	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:52781866C>T	ENST00000245457.5	+	1	754	c.600C>T	c.(598-600)taC>taT	p.Y200Y	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	200					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TGCAGCTGTACGCCACCCTGC	0.627																																						ENST00000245457.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(598-600)taC>taT		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						65	55	58					14																	52781866		2203	4300	6503	SO:0001819	synonymous_variant	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52781866C>T		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"GPCR / Class A : Prostanoid receptors"	9594	protein-coding gene	gene with protein product		176804	"prostaglandin E receptor 2 (subtype EP2), 53kD"			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.600C>T	14.37:g.52781866C>T						PTGER2_ENST00000557436.1_Intron	p.Y200Y	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN			1	754	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		200					D3DSC0|Q52LG8	Silent	SNP	ENST00000245457.5	37	c.600C>T	CCDS9708.1																																																																																				0.627	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1			16	20	0	0	0	1	0	16	20					T	52781866	C	T	52781866	2	4	435	1	0	0	0	0	0	0	0	1	12743	547	19	1		1	PTGER2	14	52781866	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	272267	52781866	54567674	6224	27149											
PTGER2	5732	broad.mit.edu	37	chr14	52782026	52782026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccgcaggagaggggaaaggGtgtccatggcggaggagacg	10	3	20	8	3	0	2	0	0	0	2	1	6	1	4	2	7	0	1	2	7	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:52782026G>A	ENST00000245457.5	+	1	914	c.760G>A	c.(760-762)Gtg>Atg	p.V254M	PTGER2_ENST00000557436.1_5'UTR	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	254					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	AGGGGAAAGGGTGTCCATGGC	0.657																																						ENST00000245457.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(760-762)Gtg>Atg		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						41	46	45					14																	52782026		2203	4300	6503	SO:0001583	missense	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52782026G>A		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"GPCR / Class A : Prostanoid receptors"	9594	protein-coding gene	gene with protein product		176804	"prostaglandin E receptor 2 (subtype EP2), 53kD"			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.760G>A	14.37:g.52782026G>A	ENSP00000245457:p.Val254Met					PTGER2_ENST00000557436.1_5'UTR	p.V254M	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN			1	914	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		254					D3DSC0|Q52LG8	Missense_Mutation	SNP	ENST00000245457.5	37	c.760G>A	CCDS9708.1	.	.	.	.	.	.	.	.	.	.	G	9.705	1.155443	0.21454	.	.	ENSG00000125384	ENST00000245457	T	0.71579	-0.58	4.6	-8.43	0.00953	GPCR, rhodopsin-like superfamily (1);	1.103120	0.06954	N	0.815205	T	0.40522	0.1120	N	0.10809	0.05	0.19945	N	0.999945	B	0.10296	0.003	B	0.12837	0.008	T	0.17715	-1.0360	10	0.34782	T	0.22	-1.4313	2.2045	0.03932	0.2873:0.3989:0.1135:0.2004	.	254	P43116	PE2R2_HUMAN	M	254	ENSP00000245457:V254M	ENSP00000245457:V254M	V	+	1	0	PTGER2	51851776	0.024000	0.19004	0.086000	0.20670	0.968000	0.65278	-0.474000	0.06607	-1.342000	0.02222	0.462000	0.41574	GTG		0.657	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1			4	25	0	0	0	1	0	4	25					A	52782026	G	A	52782026	3	1	435	1	0	0	0	0	1	0	0	0	12743	1261	44	3	762	3	PTGER2	14	52782026	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	160	52782026	54567514	6225	27150											
TXNDC16	57544	broad.mit.edu	37	chr14	52936757	52936757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagctcagctctgcttacctGttttcatggttggactaaat	9	15	8	9	0	3	0	2	0	1	0	3	1	3	1	1	2	4	5	1	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:52936757G>A	ENST00000281741.4	-	16	1987	c.1616C>T	c.(1615-1617)aCa>aTa	p.T539I	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	539					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTGCTTACCTGTTTTCATGGT	0.299																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(1615-1617)aCa>aTa		thioredoxin domain containing 16							85	88	87					14																	52936757		2203	4298	6501	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52936757G>A	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1616C>T	14.37:g.52936757G>A	ENSP00000281741:p.Thr539Ile					TXNDC16_ENST00000554399.1_Intron	p.T539I	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			16	1987	-	Breast(41;0.0716)		539					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.1616C>T	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725138	0.48833	.	.	ENSG00000087301	ENST00000281741	T	0.31247	1.5	5.2	0.495	0.16890	.	0.755943	0.13219	N	0.404536	T	0.14614	0.0353	N	0.22421	0.69	0.22918	N	0.998562	P;P	0.41313	0.572;0.745	B;B	0.36608	0.226;0.229	T	0.11817	-1.0572	10	0.42905	T	0.14	-26.3976	1.2823	0.02043	0.1824:0.128:0.4148:0.2748	.	534;539	B7ZME4;Q9P2K2	.;TXD16_HUMAN	I	539	ENSP00000281741:T539I	ENSP00000281741:T539I	T	-	2	0	TXNDC16	52006507	0.050000	0.20438	0.640000	0.29408	0.963000	0.63663	0.091000	0.15046	0.284000	0.22305	0.557000	0.71058	ACA		0.299	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		26	72	0	0	0	1	0	26	72					A	52936757	G	A	52936757	3	1	435	1	0	0	0	0	1	0	0	0	16792	1377	48	3	885	3	TXNDC16	14	52936757	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	154731	52936757	54412783	6226	27151											
GPR137C	283554	broad.mit.edu	37	chr14	53100612	53100612	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttttcgacaatccaagaCgatatgatagtgatgatgac	14	12	8	7	2	0	5	0	4	0	1	2	7	1	5	1	0	0	0	1	0	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:53100612C>T	ENST00000321662.6	+	6	1060	c.1060C>T	c.(1060-1062)Cga>Tga	p.R354*		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	354						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					CAATCCAAGACGATATGATAG	0.388																																						ENST00000321662.6																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8						c.(1060-1062)Cga>Tga		G protein-coupled receptor 137C							118	113	114					14																	53100612		1894	4123	6017	SO:0001587	stop_gained	283554					integral to membrane		g.chr14:53100612C>T	BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.1060C>T	14.37:g.53100612C>T	ENSP00000315106:p.Arg354*						p.R354*	NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN			6	1060	+	Breast(41;0.0716)		354					Q86SM2	Nonsense_Mutation	SNP	ENST00000321662.6	37	c.1060C>T	CCDS45106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.541773|5.541773	0.96474|0.96474	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000321662|ENST00000542169	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71039	.|0.3293	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68557	.|-0.5377	.|4	0.02654|.	T|.	1|.	-11.7225|-11.7225	14.6804|14.6804	0.69012|0.69012	0.1452:0.8548:0.0:0.0|0.1452:0.8548:0.0:0.0	.|.	.|.	.|.	.|.	X|M	354|323	.|.	ENSP00000315106:R354X|.	R|T	+|+	1|2	2|0	GPR137C|GPR137C	52170362|52170362	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.291000|4.291000	0.59025|0.59025	2.773000|2.773000	0.95371|0.95371	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.388	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1	XM_290615		14	26	0	0	0	1	0	14	26					T	53100612	C	T	53100612	4	4	435	1	0	0	0	0	0	1	0	0	6647	528	19	1	1082	1	GPR137C	14	53100612	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	163855	53100612	54248928	6227	27152											
PSMC6	5706	broad.mit.edu	37	chr14	53185071	53185071	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggatgaaatagatgctattgGtaagaataacacccttgttg	14	12	10	5	0	0	3	0	1	0	2	0	4	0	4	1	2	2	3	1	2	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:53185071G>A	ENST00000606149.1	+	9	731		c.e9+1		PSMC6_ENST00000445930.2_Splice_Site	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GATGCTATTGGTAAGAATAAC	0.313																																						ENST00000445930.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19						c.e9+1		proteasome (prosome, macropain) 26S subunit, ATPase, 6							74	79	77					14																	53185071		2203	4298	6501	SO:0001630	splice_region_variant	5706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	g.chr14:53185071G>A		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.715+1G>A	14.37:g.53185071G>A						PSMC6_ENST00000606149.1_Splice_Site				P62333	PRS10_HUMAN			9	763	+	Breast(41;0.176)							B2R975|P49719|Q6IBU3|Q92524	Splice_Site	SNP	ENST00000606149.1	37			.	.	.	.	.	.	.	.	.	.	G	20.3	3.964786	0.74131	.	.	ENSG00000100519	ENST00000445930;ENST00000556813	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7228	0.91702	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMC6	52254821	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.590000	0.82653	2.503000	0.84419	0.591000	0.81541	.		0.313	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806	Intron	33	50	0	0	0	1	0	33	50					A	53185071	G	A	53185071	5	1	435	1	0	0	0	0	0	0	1	0	12691	1275	44	3	792	3	PSMC6	14	53185071	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	84459	53185071	54164469	6228	27153											
DDHD1	80821	broad.mit.edu	37	chr14	53539389	53539389	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatatcccttaaacctcGtactttgtcaggagtaatgg	11	12	8	10	1	1	0	1	0	0	0	3	1	2	1	2	2	3	3	2	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:53539389G>A	ENST00000323669.5	-	6	1428	c.1429C>T	c.(1429-1431)Cga>Tga	p.R477*	DDHD1_ENST00000357758.3_Nonsense_Mutation_p.R477*|DDHD1_ENST00000395606.1_Nonsense_Mutation_p.R484*	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	477					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTAAACCTCGTACTTTGTCA	0.343																																						ENST00000357758.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(1429-1431)Cga>Tga		DDHD domain containing 1							121	109	113					14																	53539389		2203	4298	6501	SO:0001587	stop_gained	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53539389G>A	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1429C>T	14.37:g.53539389G>A	ENSP00000327104:p.Arg477*					DDHD1_ENST00000323669.5_Nonsense_Mutation_p.R477*|DDHD1_ENST00000395606.1_Nonsense_Mutation_p.R484*	p.R477*	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN			6	1612	-	Breast(41;0.037)		477					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Nonsense_Mutation	SNP	ENST00000323669.5	37	c.1429C>T	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	G	39	7.627553	0.98399	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8465	19.839	0.96675	0.0:0.0:1.0:0.0	.	.	.	.	X	477;484;477;348	.	ENSP00000327104:R477X	R	-	1	2	DDHD1	52609139	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	3.120000	0.50430	2.865000	0.98341	0.655000	0.94253	CGA		0.343	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			59	92	0	0	0	1	0	59	92					A	53539389	G	A	53539389	4	1	435	1	0	0	0	0	0	1	0	0	4326	1153	40	1	1305	1	DDHD1	14	53539389	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	354318	53539389	53810151	6229	27154											
DDHD1	80821	broad.mit.edu	37	chr14	53560099	53560099	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgttgttgcatcactataaAgatatacttcatccacactg	13	14	5	9	0	2	1	2	0	0	1	3	1	3	1	1	0	2	3	1	0	5	7	rs573580355		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:53560099A>C	ENST00000323669.5	-	3	1075	c.1076T>G	c.(1075-1077)cTt>cGt	p.L359R	DDHD1_ENST00000357758.3_Missense_Mutation_p.L359R|DDHD1_ENST00000395606.1_Missense_Mutation_p.L366R	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	359					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATCACTATAAAGATATACTTC	0.338													A|||	1	0.000199681	0	0	5008	,	,		15322	0		0	False		,,,				2504	0.001					ENST00000357758.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(1075-1077)cTt>cGt		DDHD domain containing 1							128	115	120					14																	53560099		2203	4300	6503	SO:0001583	missense	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53560099A>C	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1076T>G	14.37:g.53560099A>C	ENSP00000327104:p.Leu359Arg					DDHD1_ENST00000323669.5_Missense_Mutation_p.L359R|DDHD1_ENST00000395606.1_Missense_Mutation_p.L366R	p.L359R	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN			3	1259	-	Breast(41;0.037)		359					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.1076T>G	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460090	0.84317	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610;ENST00000556910	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	M	0.84683	2.71	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.91635	0.965;0.999;0.988	D	0.84232	0.0467	9	0.62326	D	0.03	-13.5899	15.7197	0.77697	1.0:0.0:0.0:0.0	.	366;359;359	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	R	359;366;359;230;73	.	ENSP00000327104:L359R	L	-	2	0	DDHD1	52629849	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.339000	0.96797	2.112000	0.64535	0.254000	0.18369	CTT		0.338	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			42	55	0	0	0	1	0	42	55					C	53560099	A	C	53560099	3	2	435	1	0	0	0	0	1	0	0	0	4326	72	3	5	1670	5	DDHD1	14	53560099	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	20710	53560099	53789441	6230	27155											
SAMD4A	23034	broad.mit.edu	37	chr14	55236928	55236928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctagacatatcaggatatcGacagcaaagaaagtatgttg	16	10	9	6	1	2	2	1	0	1	2	3	4	2	3	0	1	1	3	0	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:55236928G>A	ENST00000554335.1	+	9	2366	c.1703G>A	c.(1702-1704)cGa>cAa	p.R568Q	SAMD4A_ENST00000392067.3_Missense_Mutation_p.R568Q|SAMD4A_ENST00000555192.1_Missense_Mutation_p.R159Q|SAMD4A_ENST00000251091.5_Missense_Mutation_p.R480Q|SAMD4A_ENST00000357634.3_Missense_Mutation_p.R567Q			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	568					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TCAGGATATCGACAGCAAAGA	0.468																																						ENST00000251091.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						c.(1438-1440)cGa>cAa		sterile alpha motif domain containing 4A							150	146	147					14																	55236928		2203	4300	6503	SO:0001583	missense	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55236928G>A	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"Sterile alpha motif (SAM) domain containing"	23023	protein-coding gene	gene with protein product	"smaug homolog (Drosophila)"	610747	"sterile alpha motif domain containing 4"	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1703G>A	14.37:g.55236928G>A	ENSP00000452535:p.Arg568Gln					SAMD4A_ENST00000555192.1_Missense_Mutation_p.R159Q|SAMD4A_ENST00000554335.1_Missense_Mutation_p.R568Q|SAMD4A_ENST00000357634.3_Missense_Mutation_p.R567Q|SAMD4A_ENST00000392067.3_Missense_Mutation_p.R568Q	p.R480Q	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN			7	1744	+			568					A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	c.1439G>A	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	G	35	5.440158	0.96168	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634;ENST00000555192	.	.	.	5.42	5.42	0.78866	.	0.075963	0.53938	D	0.000042	T	0.79470	0.4451	M	0.71036	2.16	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.81914	0.987;0.995;0.638	T	0.81097	-0.1087	9	0.72032	D	0.01	-19.8228	19.2111	0.93755	0.0:0.0:1.0:0.0	.	159;480;568	G3V2R1;Q9UPU9-3;Q9UPU9	.;.;SMAG1_HUMAN	Q	568;568;480;479;567;159	.	ENSP00000251091:R197Q	R	+	2	0	SAMD4A	54306678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.397000	0.97276	2.551000	0.86045	0.462000	0.41574	CGA		0.468	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		5	110	0	0	0	1	0	5	110					A	55236928	G	A	55236928	3	1	435	1	0	0	0	0	1	0	0	0	13821	1058	37	2	1730	2	SAMD4A	14	55236928	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1676829	55236928	52112612	6231	27156											
WDHD1	11169	broad.mit.edu	37	chr14	55474015	55474015	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttcccactttttggctGccaagcaagtctgcagattg	8	13	8	12	0	1	1	0	0	1	1	2	1	2	1	3	1	4	3	3	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:55474015G>A	ENST00000360586.3	-	7	648	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	WDHD1_ENST00000421192.1_Nonsense_Mutation_p.Q72*|WDHD1_ENST00000420358.2_Nonsense_Mutation_p.Q72*	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	195					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTTTTTGGCTGCCAAGCAAGT	0.338																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(583-585)Cag>Tag		WD repeat and HMG-box DNA binding protein 1							103	97	99					14																	55474015		2203	4299	6502	SO:0001587	stop_gained	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55474015G>A	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"WD repeat domain containing"	23170	protein-coding gene	gene with protein product	"CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.583C>T	14.37:g.55474015G>A	ENSP00000353793:p.Gln195*					WDHD1_ENST00000421192.1_Nonsense_Mutation_p.Q72*|WDHD1_ENST00000420358.2_Nonsense_Mutation_p.Q72*	p.Q195*	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			7	648	-			195					C9JW18|F6W0U7	Nonsense_Mutation	SNP	ENST00000360586.3	37	c.583C>T	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	G	39	7.857411	0.98528	.	.	ENSG00000198554	ENST00000360586;ENST00000421192;ENST00000420358	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	19.7156	0.96119	0.0:0.0:1.0:0.0	.	.	.	.	X	195;72;72	.	ENSP00000353793:Q195X	Q	-	1	0	WDHD1	54543765	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.176000	0.94839	2.658000	0.90341	0.655000	0.94253	CAG		0.338	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		16	42	0	0	0	1	0	16	42					A	55474015	G	A	55474015	4	1	435	1	0	0	0	0	0	1	0	0	17268	1328	46	3	2886	3	WDHD1	14	55474015	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	237087	55474015	51875525	6232	27157											
WDHD1	11169	broad.mit.edu	37	chr14	55493428	55493428	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgtttctcaaagaaccttaCctcccagaatcatcaaaaca	15	11	3	12	0	3	2	3	0	1	2	5	2	4	2	3	0	3	1	3	0	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:55493428C>T	ENST00000360586.3	-	2	143		c.e2+1		SOCS4_ENST00000555846.1_5'Flank|SOCS4_ENST00000395472.2_5'Flank|WDHD1_ENST00000421192.1_Splice_Site|SOCS4_ENST00000339298.2_5'Flank|WDHD1_ENST00000420358.2_Intron	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1						heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.?(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						AAGAACCTTACCTCCCAGAAT	0.403																																						ENST00000360586.3																			1	Unknown(1)	p.?(1)	lung(1)	breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.e2+1		WD repeat and HMG-box DNA binding protein 1							159	152	154					14																	55493428		2203	4300	6503	SO:0001630	splice_region_variant	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55493428C>T	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"WD repeat domain containing"	23170	protein-coding gene	gene with protein product	"CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.77+1G>A	14.37:g.55493428C>T						WDHD1_ENST00000421192.1_Splice_Site|WDHD1_ENST00000420358.2_Intron		NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			2	143	-								C9JW18|F6W0U7	Splice_Site	SNP	ENST00000360586.3	37		CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206861	0.58343	.	.	ENSG00000198554	ENST00000360586;ENST00000455555	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.915	0.79508	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDHD1	54563178	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	5.046000	0.64226	2.533000	0.85409	0.467000	0.42956	.		0.403	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086	Intron	10	42	0	0	0	1	0	10	42					T	55493428	C	T	55493428	5	4	435	1	0	0	0	0	0	0	1	0	17268	521	18	3	3411	3	WDHD1	14	55493428	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19413	55493428	51856112	6233	27158											
SOCS4	122809	broad.mit.edu	37	chr14	55510444	55510444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtatagaagatagtgatatgGattccgatgatgaaattcta	15	13	10	3	1	1	5	0	3	1	2	2	7	2	6	1	1	0	1	1	1	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:55510444G>A	ENST00000395472.2	+	2	1017	c.685G>A	c.(685-687)Gat>Aat	p.D229N	SOCS4_ENST00000555846.1_Missense_Mutation_p.D229N|SOCS4_ENST00000339298.2_Missense_Mutation_p.D229N	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	229					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TAGTGATATGGATTCCGATGA	0.403																																						ENST00000395472.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						c.(685-687)Gat>Aat		suppressor of cytokine signaling 4							81	75	77					14																	55510444		2203	4300	6503	SO:0001583	missense	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55510444G>A	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.685G>A	14.37:g.55510444G>A	ENSP00000378855:p.Asp229Asn					SOCS4_ENST00000555846.1_Missense_Mutation_p.D229N|SOCS4_ENST00000339298.2_Missense_Mutation_p.D229N	p.D229N	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN			2	1017	+			229						Missense_Mutation	SNP	ENST00000395472.2	37	c.685G>A	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673413	0.88445	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.37058	1.22;1.22;1.22	5.87	5.87	0.94306	.	0.144283	0.46145	D	0.000305	T	0.47210	0.1433	L	0.42245	1.32	0.58432	D	0.999997	D	0.63880	0.993	P	0.52598	0.703	T	0.39078	-0.9631	10	0.66056	D	0.02	-20.7954	20.207	0.98280	0.0:0.0:1.0:0.0	.	229	Q8WXH5	SOCS4_HUMAN	N	229	ENSP00000378855:D229N;ENSP00000452522:D229N;ENSP00000341327:D229N	ENSP00000341327:D229N	D	+	1	0	SOCS4	54580197	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.639000	0.91023	2.765000	0.95021	0.650000	0.86243	GAT		0.403	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			28	44	0	0	0	1	0	28	44					A	55510444	G	A	55510444	3	1	435	1	0	0	0	0	1	0	0	0	14916	1174	41	3	687	3	SOCS4	14	55510444	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17016	55510444	51839096	6234	27159											
MAPK1IP1L	93487	broad.mit.edu	37	chr14	55529374	55529374	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacactcccctgccaaaacCtctgctgtgagcaatacaaa	14	7	6	14	0	1	1	0	1	1	0	2	2	2	1	4	0	6	2	4	0	6	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:55529374C>A	ENST00000395468.4	+	3	234	c.57C>A	c.(55-57)acC>acA	p.T19T	MAPK1IP1L_ENST00000554364.1_3'UTR	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	19										endometrium(2)|large_intestine(1)|lung(3)	6						CTGCCAAAACCTCTGCTGTGA	0.488																																						ENST00000395468.3																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(55-57)acC>acA		mitogen-activated protein kinase 1 interacting protein 1-like							45	47	46					14																	55529374		2203	4300	6503	SO:0001819	synonymous_variant	93487							g.chr14:55529374C>A	AK025580	CCDS32085.1	14q22.1	2008-01-30	2008-01-30	2008-01-16		ENSG00000168175			19840	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 32", "mitogen activated protein kinase 1 interacting protein 1-like"	C14orf32		12011110	Standard	NM_144578		Approved		uc001xbq.1	Q8NDC0		ENST00000395468.4:c.57C>A	14.37:g.55529374C>A						MAPK1IP1L_ENST00000554364.1_3'UTR	p.T19T	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN			3	234	+			19					B2RDD8|Q96BG5	Silent	SNP	ENST00000395468.4	37	c.57C>A	CCDS32085.1																																																																																				0.488	MAPK1IP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411302.2	NM_144578		12	15	1	0	2.32078e-09	1	2.46314e-09	12	15					A	55529374	C	A	55529374	2	1	435	1	0	0	0	0	0	0	0	1	9278	668	24	5		5	MAPK1IP1L	14	55529374	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18930	55529374	51820166	6235	27160											
FBXO34	55030	broad.mit.edu	37	chr14	55817903	55817903	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaacccacagaaaggggAaatcttgaggttggtgaacc	15	6	13	7	0	1	4	0	2	1	2	1	6	1	5	2	4	2	1	2	4	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:55817903A>G	ENST00000313833.4	+	2	1040	c.795A>G	c.(793-795)ggA>ggG	p.G265G	FBXO34_ENST00000440021.1_Silent_p.G265G	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	265										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CAGAAAGGGGAAATCTTGAGG	0.552																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(793-795)ggA>ggG		F-box protein 34							81	83	82					14																	55817903		2203	4300	6503	SO:0001819	synonymous_variant	55030							g.chr14:55817903A>G	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.795A>G	14.37:g.55817903A>G						FBXO34_ENST00000440021.1_Silent_p.G265G	p.G265G	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	1040	+			265					Q2VPB5|Q4VBP5|Q86TY4	Silent	SNP	ENST00000313833.4	37	c.795A>G	CCDS32086.1																																																																																				0.552	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			20	38	0	0	0	1	0	20	38					G	55817903	A	G	55817903	2	3	435	1	0	0	0	0	0	0	0	1	5744	233	9	4		4	FBXO34	14	55817903	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	288529	55817903	51531637	6236	27161											
FBXO34	55030	broad.mit.edu	37	chr14	55818976	55818976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagattctcgctgggttcGagatccacgctatagagagg	10	9	13	9	3	1	3	0	0	1	3	4	5	2	3	1	2	1	4	1	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:55818976G>A	ENST00000313833.4	+	2	2113	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	FBXO34_ENST00000440021.1_Missense_Mutation_p.R623Q	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	623	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CGCTGGGTTCGAGATCCACGC	0.478																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(1867-1869)cGa>cAa		F-box protein 34							100	91	94					14																	55818976		2203	4300	6503	SO:0001583	missense	55030							g.chr14:55818976G>A	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1868G>A	14.37:g.55818976G>A	ENSP00000313159:p.Arg623Gln					FBXO34_ENST00000440021.1_Missense_Mutation_p.R623Q	p.R623Q	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	2113	+			623			F-box.		Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.1868G>A	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650200	0.29336	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.24151	1.87;1.87	5.91	5.03	0.67393	F-box domain, cyclin-like (1);F-box domain, Skp2-like (1);	0.506389	0.19123	N	0.122126	T	0.18467	0.0443	L	0.43757	1.38	0.09310	N	1	P	0.52463	0.953	B	0.35114	0.196	T	0.13953	-1.0490	10	0.33141	T	0.24	.	11.0222	0.47724	0.1412:0.0:0.8588:0.0	.	623	Q9NWN3	FBX34_HUMAN	Q	623	ENSP00000313159:R623Q;ENSP00000394117:R623Q	ENSP00000313159:R623Q	R	+	2	0	FBXO34	54888729	0.023000	0.18921	0.990000	0.47175	0.930000	0.56654	2.143000	0.42187	1.512000	0.48834	0.655000	0.94253	CGA		0.478	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			16	38	0	0	0	1	0	16	38					A	55818976	G	A	55818976	3	1	435	1	0	0	0	0	1	0	0	0	5744	1058	37	2	1870	2	FBXO34	14	55818976	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1073	55818976	51530564	6237	27162											
PELI2	57161	broad.mit.edu	37	chr14	56746451	56746451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtcaaggaatcagactGtggtggtggagtacacacat	11	11	12	7	0	2	1	2	0	0	1	2	3	2	3	0	4	1	1	0	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:56746451G>A	ENST00000267460.4	+	3	551	c.265G>A	c.(265-267)Gtg>Atg	p.V89M		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	89	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GAATCAGACTGTGGTGGTGGA	0.308																																						ENST00000267460.4																			0				kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						c.(265-267)Gtg>Atg		pellino E3 ubiquitin protein ligase family member 2							146	146	146					14																	56746451		2203	4300	6503	SO:0001583	missense	57161				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	g.chr14:56746451G>A	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"Pellino homologs"	8828	protein-coding gene	gene with protein product		614798	"pellino (Drosophila) homolog 2", "pellino homolog 2 (Drosophila)"			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.265G>A	14.37:g.56746451G>A	ENSP00000267460:p.Val89Met						p.V89M	NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN			3	551	+			89					B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	c.265G>A	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758673	0.89843	.	.	ENSG00000139946	ENST00000267460	T	0.59906	0.23	4.84	4.84	0.62591	.	0.056254	0.64402	D	0.000001	T	0.79446	0.4447	M	0.86178	2.8	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.82948	-0.0204	10	0.87932	D	0	-21.5568	18.5132	0.90925	0.0:0.0:1.0:0.0	.	89	Q9HAT8	PELI2_HUMAN	M	89	ENSP00000267460:V89M	ENSP00000267460:V89M	V	+	1	0	PELI2	55816204	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.601000	0.98297	2.673000	0.90976	0.557000	0.71058	GTG		0.308	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			40	59	0	0	0	1	0	40	59					A	56746451	G	A	56746451	3	1	435	1	0	0	0	0	1	0	0	0	11722	1377	48	3	275	3	PELI2	14	56746451	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	927475	56746451	50603089	6238	27163											
C14orf101	54916	broad.mit.edu	37	chr14	57075837	57075837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgcaggaactctccctggGctctttgttgaagttgagcc	7	12	12	10	0	2	2	0	2	2	0	3	4	2	3	2	2	3	4	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:57075837G>A	ENST00000261556.6	+	6	772	c.650G>A	c.(649-651)gGc>gAc	p.G217D	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.G217D	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	217						integral component of membrane (GO:0016021)											CTCTCCCTGGGCTCTTTGTTG	0.458																																						ENST00000261556.6																			0											c.(649-651)gGc>gAc		transmembrane protein 260							307	302	304					14																	57075837		2203	4300	6503	SO:0001583	missense	54916							g.chr14:57075837G>A	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 101"	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.650G>A	14.37:g.57075837G>A	ENSP00000261556:p.Gly217Asp					TMEM260_ENST00000538838.1_Missense_Mutation_p.G217D|TMEM260_ENST00000536419.1_5'UTR	p.G217D	NM_017799.3	NP_060269.3					6	772	+								A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	c.650G>A	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	G	2.197	-0.383968	0.04966	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.44881	1.49;0.91	6.06	5.17	0.71159	.	0.536654	0.22661	N	0.057185	T	0.25382	0.0617	N	0.14661	0.345	0.23661	N	0.997174	B	0.06786	0.001	B	0.10450	0.005	T	0.08534	-1.0717	10	0.21014	T	0.42	-17.4275	11.7508	0.51847	0.1345:0.0:0.8655:0.0	.	217	Q9NX78	CN101_HUMAN	D	217	ENSP00000261556:G217D;ENSP00000441934:G217D	ENSP00000261556:G217D	G	+	2	0	C14orf101	56145590	0.026000	0.19158	0.210000	0.23637	0.372000	0.29890	1.567000	0.36407	2.880000	0.98712	0.650000	0.86243	GGC		0.458	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		9	268	0	0	0	1	0	9	268					A	57075837	G	A	57075837	3	1	435	1	0	0	0	0	1	0	0	0	1734	1203	42	3	672	3	C14orf101	14	57075837	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	329386	57075837	50273703	6239	27164											
C14orf101	54916	broad.mit.edu	37	chr14	57103318	57103318	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacgctcaagcatatgacgTatgttacacttttatatgta	12	15	6	8	2	1	1	1	1	0	0	1	1	1	1	0	0	3	5	0	0	8	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:57103318T>C	ENST00000261556.6	+	15	1991		c.e15+2		RP11-1085N6.2_ENST00000553800.1_RNA|TMEM260_ENST00000536419.1_Splice_Site|RP11-1085N6.2_ENST00000555924.1_RNA	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260							integral component of membrane (GO:0016021)											GCATATGACGTATGTTACACT	0.373																																						ENST00000261556.6																			0											c.e15+2		transmembrane protein 260							80	74	76					14																	57103318		2203	4300	6503	SO:0001630	splice_region_variant	54916							g.chr14:57103318T>C	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 101"	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1869+2T>C	14.37:g.57103318T>C						RP11-1085N6.2_ENST00000553800.1_RNA|RP11-1085N6.2_ENST00000555924.1_RNA|TMEM260_ENST00000536419.1_Splice_Site		NM_017799.3	NP_060269.3					15	1991	+								A8KAN4|B3KPF5|Q86XE1	Splice_Site	SNP	ENST00000261556.6	37		CCDS9727.2	.	.	.	.	.	.	.	.	.	.	T	17.32	3.359740	0.61403	.	.	ENSG00000070269	ENST00000261556;ENST00000536419;ENST00000555046	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7079	0.69206	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C14orf101	56173071	1.000000	0.71417	0.474000	0.27266	0.967000	0.64934	5.219000	0.65262	2.070000	0.61991	0.460000	0.39030	.		0.373	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799	Intron	16	22	0	0	0	1	0	16	22					C	57103318	T	C	57103318	5	2	435	1	0	0	0	0	0	0	1	0	1734	1652	57	4	1929	4	C14orf101	14	57103318	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	27481	57103318	50246222	6240	27165											
SLC35F4	341880	broad.mit.edu	37	chr14	58060841	58060841	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgactgatgatctggaggtAcctggaaagacagagttcac	12	9	13	7	0	2	5	1	3	1	2	2	7	2	7	1	3	1	2	1	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:58060841A>G	ENST00000339762.6	-	2	212	c.213T>C	c.(211-213)ggT>ggC	p.G71G	SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000556826.1_Splice_Site_p.S35S|SLC35F4_ENST00000557430.1_5'UTR			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	71					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCTGGAGGTACCTGGAAAGA	0.438																																						ENST00000556826.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e2-1		solute carrier family 35, member F4							65	63	64					14																	58060841		1915	4118	6033	SO:0001630	splice_region_variant	341880							g.chr14:58060841A>G			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"Solute carriers"	19845	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 36"	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.212-1T>C	14.37:g.58060841A>G						SLC35F4_ENST00000557430.1_5'UTR|SLC35F4_ENST00000339762.6_Splice_Site_p.G71_splice|SLC35F4_ENST00000554729.1_5'UTR	p.S35_splice	NM_001206920.1	NP_001193849.1					2	341	-								A6NDQ3	Splice_Site	SNP	ENST00000339762.6	37	c.103_splice																																																																																					0.438	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260	Silent	9	24	0	0	0	1	0	9	24					G	58060841	A	G	58060841	5	3	435	1	0	0	0	0	0	0	1	0	14591	405	14	4	1380	4	SLC35F4	14	58060841	Splice_Site	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	957523	58060841	49288699	6241	27166											
C14orf37	145407	broad.mit.edu	37	chr14	58600014	58600014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgtcaccatggataaagtgGcatctggctcttgaacagct	10	11	11	9	0	3	1	1	1	2	0	3	2	3	2	1	3	2	3	1	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:58600014G>A	ENST00000267485.7	-	3	1609	c.1415C>T	c.(1414-1416)gCc>gTc	p.A472V	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	472						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGATAAAGTGGCATCTGGCTC	0.428																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(1414-1416)gCc>gTc		chromosome 14 open reading frame 37							127	128	128					14																	58600014		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58600014G>A		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1415C>T	14.37:g.58600014G>A	ENSP00000267485:p.Ala472Val					C14orf37_ENST00000334342.5_5'UTR	p.A472V	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			3	1609	-			472					A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.1415C>T	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628896	0.46944	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.28069	1.63	5.59	5.59	0.84812	.	0.293567	0.29328	N	0.012475	T	0.52092	0.1713	M	0.64997	1.995	0.33270	D	0.560946	D;D;D;D	0.76494	0.999;0.999;0.999;0.997	D;D;P;P	0.69479	0.932;0.964;0.881;0.881	T	0.64015	-0.6506	10	0.66056	D	0.02	-8.0344	15.1124	0.72368	0.0:0.0:1.0:0.0	.	510;472;472;472	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	V	472;510	ENSP00000267485:A472V	ENSP00000267485:A472V	A	-	2	0	C14orf37	57669767	0.998000	0.40836	0.348000	0.25681	0.268000	0.26511	5.173000	0.65010	2.622000	0.88805	0.563000	0.77884	GCC		0.428	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		4	85	0	0	0	1	0	4	85					A	58600014	G	A	58600014	3	1	435	1	0	0	0	0	1	0	0	0	1771	1203	42	3	933	3	C14orf37	14	58600014	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	539173	58600014	48749526	6242	27167											
ARID4A	5926	broad.mit.edu	37	chr14	58785293	58785293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgagcgaacattgagacGtacctcactttgtctgaaag	12	11	10	8	2	2	4	1	4	1	1	2	6	2	4	1	0	3	1	1	0	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:58785293G>A	ENST00000355431.3	+	6	681	c.308G>A	c.(307-309)cGt>cAt	p.R103H	ARID4A_ENST00000348476.3_Missense_Mutation_p.R103H|ARID4A_ENST00000431317.2_Missense_Mutation_p.R103H|ARID4A_ENST00000395168.3_Missense_Mutation_p.R103H	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	103					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						ACATTGAGACGTACCTCACTT	0.388																																						ENST00000355431.3																			0				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						c.(307-309)cGt>cAt		AT rich interactive domain 4A (RBP1-like)							198	169	179					14																	58785293		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58785293G>A	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.308G>A	14.37:g.58785293G>A	ENSP00000347602:p.Arg103His					ARID4A_ENST00000348476.3_Missense_Mutation_p.R103H|ARID4A_ENST00000431317.2_Missense_Mutation_p.R103H|ARID4A_ENST00000395168.3_Missense_Mutation_p.R103H	p.R103H	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			6	681	+			103					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.308G>A	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	36	5.735825	0.96865	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000445108;ENST00000431317	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.78	5.78	0.91487	Tudor domain (1);	0.000000	0.85682	D	0.000000	T	0.72859	0.3513	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.75323	-0.3358	10	0.87932	D	0	-8.527	20.0079	0.97439	0.0:0.0:1.0:0.0	.	103;103;103	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	H	103;103;103;66;103	ENSP00000347602:R103H;ENSP00000344556:R103H;ENSP00000378597:R103H;ENSP00000392567:R66H;ENSP00000397368:R103H	ENSP00000344556:R103H	R	+	2	0	ARID4A	57855046	1.000000	0.71417	0.965000	0.40720	0.989000	0.77384	9.624000	0.98398	2.722000	0.93159	0.655000	0.94253	CGT		0.388	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		23	41	0	0	0	1	0	23	41					A	58785293	G	A	58785293	3	1	435	1	0	0	0	0	1	0	0	0	919	1145	40	1	326	1	ARID4A	14	58785293	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	185279	58785293	48564247	6243	27168											
ARID4A	5926	broad.mit.edu	37	chr14	58790255	58790255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaggaagatgaagacaagCgccgtctcaatgatgaatta	17	7	11	6	2	1	6	1	3	1	3	2	7	1	7	1	1	1	0	1	1	7	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:58790255C>T	ENST00000355431.3	+	8	875	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	ARID4A_ENST00000348476.3_Missense_Mutation_p.R168C|ARID4A_ENST00000431317.2_Missense_Mutation_p.R168C|ARID4A_ENST00000395168.3_Missense_Mutation_p.R168C	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	168					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						TGAAGACAAGCGCCGTCTCAA	0.368																																						ENST00000355431.3																			0				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						c.(502-504)Cgc>Tgc		AT rich interactive domain 4A (RBP1-like)							146	138	141					14																	58790255		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58790255C>T	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.502C>T	14.37:g.58790255C>T	ENSP00000347602:p.Arg168Cys					ARID4A_ENST00000348476.3_Missense_Mutation_p.R168C|ARID4A_ENST00000431317.2_Missense_Mutation_p.R168C|ARID4A_ENST00000395168.3_Missense_Mutation_p.R168C	p.R168C	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			8	875	+			168					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.502C>T	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817154	0.70912	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000445108;ENST00000431317	T;T;T;T	0.17370	2.28;2.28;2.29;2.28	5.44	0.442	0.16582	RBB1NT (1);	0.138392	0.64402	D	0.000005	T	0.33059	0.0850	L	0.57536	1.79	0.58432	D	0.999996	D;D;B	0.89917	1.0;0.999;0.26	P;D;B	0.63192	0.899;0.912;0.092	T	0.25779	-1.0122	10	0.87932	D	0	-2.8983	15.0301	0.71698	0.774:0.226:0.0:0.0	.	168;168;168	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	C	168;168;168;131;168	ENSP00000347602:R168C;ENSP00000344556:R168C;ENSP00000378597:R168C;ENSP00000397368:R168C	ENSP00000344556:R168C	R	+	1	0	ARID4A	57860008	0.978000	0.34361	0.946000	0.38457	0.853000	0.48598	1.212000	0.32394	0.271000	0.22005	0.655000	0.94253	CGC		0.368	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		33	29	0	0	0	1	0	33	29					T	58790255	C	T	58790255	3	4	435	1	0	0	0	0	1	0	0	0	919	768	27	1	528	1	ARID4A	14	58790255	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4962	58790255	48559285	6244	27169											
ARID4A	5926	broad.mit.edu	37	chr14	58831137	58831137	+	Frame_Shift_Del	DEL	A	A	-																															gatttttgggaacaaaatggAaaaaacagaagaagttaaga																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:58831137delA	ENST00000355431.3	+	20	2703	c.2330delA	c.(2329-2331)gaafs	p.E777fs	ARID4A_ENST00000348476.3_Frame_Shift_Del_p.E777fs|ARID4A_ENST00000431317.2_Frame_Shift_Del_p.E777fs|ARID4A_ENST00000395168.3_Frame_Shift_Del_p.E777fs	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	777					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						AACAAAATGGAAAAAACAGAA	0.323																																						ENST00000355431.3																			0				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						c.(2329-2331)gafs		AT rich interactive domain 4A (RBP1-like)							39	44	42					14																	58831137		2201	4288	6489	SO:0001589	frameshift_variant	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831137delA	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2330delA	14.37:g.58831137delA	ENSP00000347602:p.Glu777fs					ARID4A_ENST00000348476.3_Frame_Shift_Del_p.E777fs|ARID4A_ENST00000431317.2_Frame_Shift_Del_p.E777fs|ARID4A_ENST00000395168.3_Frame_Shift_Del_p.E777fs	p.E777fs	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			20	2703	+			777					Q15991|Q15992|Q15993	Frame_Shift_Del	DEL	ENST00000355431.3	37	c.2330delA	CCDS9732.1																																																																																				0.323	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		25	63						25	63	---	---	---	---	-	58831137	A	-	58831137	7	5	435	1	0	1	0	1	0	0	0	0	919	246	9	0	2404	0	ARID4A	14	58831137	Frame_Shift_Del	DEL	A	TCGA-XK-AAIW-01A-11D-A41K-08	40882	58831137	48518403	6245	27170											
KIAA0586	9786	broad.mit.edu	37	chr14	58965579	58965579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcagagaacatcttaatgGgacattctctctatatgcag	13	11	8	9	0	3	1	0	0	3	1	4	3	3	2	0	1	3	2	0	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:58965579G>A	ENST00000556134.1	+	28	4298	c.4024G>A	c.(4024-4026)Gga>Aga	p.G1342R	KIAA0586_ENST00000354386.6_Missense_Mutation_p.G1410R|KIAA0586_ENST00000423743.3_Missense_Mutation_p.G1313R|KIAA0586_ENST00000261244.5_Missense_Mutation_p.G1281R|KIAA0586_ENST00000538571.2_3'UTR	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1342					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CATCTTAATGGGACATTCTCT	0.423																																						ENST00000423743.3																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3937-3939)Gga>Aga		KIAA0586							82	76	78					14																	58965579		1899	4132	6031	SO:0001583	missense	9786							g.chr14:58965579G>A	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.4024G>A	14.37:g.58965579G>A	ENSP00000452351:p.Gly1342Arg					KIAA0586_ENST00000556134.1_Missense_Mutation_p.G1342R|KIAA0586_ENST00000354386.6_Missense_Mutation_p.G1410R|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.G1281R	p.G1313R	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			28	4195	+			1281					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.3937G>A	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099890	0.56183	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000555397	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.89	3.04	0.35103	.	0.088235	0.47852	D	0.000216	T	0.64843	0.2635	.	.	.	0.33405	D	0.577807	B;D;D;B;B	0.76494	0.105;0.998;0.999;0.18;0.18	B;D;D;B;B	0.72075	0.092;0.954;0.976;0.13;0.13	T	0.75542	-0.3281	9	0.72032	D	0.01	.	10.9376	0.47253	0.1574:0.0:0.8426:0.0	.	1217;1410;1281;1342;1313	B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;K0586_HUMAN;.	R	1410;1342;1313;1281;39	ENSP00000346359:G1410R;ENSP00000452351:G1342R;ENSP00000399427:G1313R;ENSP00000261244:G1281R;ENSP00000451356:G39R	ENSP00000261244:G1281R	G	+	1	0	KIAA0586	58035332	1.000000	0.71417	0.025000	0.17156	0.006000	0.05464	2.421000	0.44688	1.052000	0.40392	0.591000	0.81541	GGA		0.423	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		12	17	0	0	0	1	0	12	17					A	58965579	G	A	58965579	3	1	435	1	0	0	0	0	1	0	0	0	8186	1233	43	3	3943	3	KIAA0586	14	58965579	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	134442	58965579	48383961	6246	27171											
DACT1	51339	broad.mit.edu	37	chr14	59112707	59112707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtaagcacctgccaaaaacgGccaagccagcctcgcaagaa	15	3	9	14	2	0	1	0	0	0	1	1	1	0	1	5	1	5	3	5	1	6	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:59112707G>A	ENST00000335867.4	+	4	1390	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	DACT1_ENST00000541264.2_Missense_Mutation_p.A175T|DACT1_ENST00000556859.1_Missense_Mutation_p.A175T|DACT1_ENST00000395153.3_Missense_Mutation_p.A419T			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	456					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCCAAAAACGGCCAAGCCAGC	0.607																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1255-1257)Gcc>Acc		dishevelled-binding antagonist of beta-catenin 1							39	46	44					14																	59112707		2203	4299	6502	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112707G>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1366G>A	14.37:g.59112707G>A	ENSP00000337439:p.Ala456Thr					DACT1_ENST00000556859.1_Missense_Mutation_p.A175T|DACT1_ENST00000395151.3_Missense_Mutation_p.A175T|DACT1_ENST00000335867.4_Missense_Mutation_p.A456T|DACT1_ENST00000541264.2_Missense_Mutation_p.A175T	p.A419T	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	1402	+			456					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1255G>A	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	5.257	0.232901	0.09969	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.35	3.53	0.40419	.	0.376195	0.29073	N	0.013227	T	0.36331	0.0963	L	0.56769	1.78	0.09310	N	1	P;B	0.36465	0.554;0.196	B;B	0.36719	0.231;0.067	T	0.14811	-1.0459	10	0.18276	T	0.48	-5.2692	10.2421	0.43319	0.0705:0.0:0.7927:0.1368	.	419;456	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	T	175;175;419;456;175	ENSP00000451598:A175T;ENSP00000378581:A175T;ENSP00000378582:A419T;ENSP00000337439:A456T;ENSP00000442850:A175T	ENSP00000337439:A456T	A	+	1	0	DACT1	58182460	0.001000	0.12720	0.065000	0.19835	0.138000	0.21146	0.756000	0.26419	0.656000	0.30886	-0.217000	0.12591	GCC		0.607	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		19	20	0	0	0	1	0	19	20					A	59112707	G	A	59112707	3	1	435	1	0	0	0	0	1	0	0	0	4222	1203	42	3	1380	3	DACT1	14	59112707	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	147128	59112707	48236833	6247	27172											
DAAM1	23002	broad.mit.edu	37	chr14	59789729	59789729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcattggctgtataaaggCgttaatgaacaactctcaag	13	12	8	8	1	2	1	2	1	2	0	4	1	2	1	0	2	2	3	0	2	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:59789729C>T	ENST00000395125.1	+	5	583	c.560C>T	c.(559-561)gCg>gTg	p.A187V	DAAM1_ENST00000351081.1_Missense_Mutation_p.A187V|DAAM1_ENST00000360909.3_Missense_Mutation_p.A187V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	187	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TGTATAAAGGCGTTAATGAAC	0.438																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(559-561)gCg>gTg		dishevelled associated activator of morphogenesis 1							107	100	102					14																	59789729		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59789729C>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.560C>T	14.37:g.59789729C>T	ENSP00000378557:p.Ala187Val					DAAM1_ENST00000360909.3_Missense_Mutation_p.A187V|DAAM1_ENST00000351081.1_Missense_Mutation_p.A187V	p.A187V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	5	583	+			187			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.560C>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889452	0.91889	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.92858	-3.12;-3.12;-3.12	6.16	6.16	0.99307	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.96340	0.8806	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.991;0.995	D	0.95832	0.8859	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	187;187	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	V	187	ENSP00000354162:A187V;ENSP00000247170:A187V;ENSP00000378557:A187V	ENSP00000247170:A187V	A	+	2	0	DAAM1	58859482	1.000000	0.71417	0.991000	0.47740	0.959000	0.62525	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GCG		0.438	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		16	24	0	0	0	1	0	16	24					T	59789729	C	T	59789729	3	4	435	1	0	0	0	0	1	0	0	0	4215	768	27	1	578	1	DAAM1	14	59789729	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	677022	59789729	47559811	6248	27173											
DAAM1	23002	broad.mit.edu	37	chr14	59821889	59821889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttgttttgaagcaattcGttctggctcagaagaggtgt	8	16	12	5	1	2	3	1	1	1	2	3	3	2	3	0	2	1	5	0	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:59821889G>A	ENST00000395125.1	+	20	2416	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	DAAM1_ENST00000553966.1_Intron|DAAM1_ENST00000351081.1_Missense_Mutation_p.R798H|DAAM1_ENST00000360909.3_Missense_Mutation_p.R788H	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	798	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GAAGCAATTCGTTCTGGCTCA	0.378																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(2392-2394)cGt>cAt		dishevelled associated activator of morphogenesis 1							182	170	174					14																	59821889		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59821889G>A	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2393G>A	14.37:g.59821889G>A	ENSP00000378557:p.Arg798His					DAAM1_ENST00000360909.3_Missense_Mutation_p.R788H|DAAM1_ENST00000553966.1_Intron|DAAM1_ENST00000351081.1_Missense_Mutation_p.R798H	p.R798H	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	20	2416	+			798			FH2.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.2393G>A	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209648	0.79240	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	T;T;T	0.17528	2.27;2.27;2.27	5.81	5.81	0.92471	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.192319	0.56097	D	0.000032	T	0.20495	0.0493	L	0.52126	1.63	0.80722	D	1	P;P	0.38195	0.622;0.498	B;B	0.34824	0.135;0.19	T	0.00928	-1.1511	10	0.41790	T	0.15	.	20.4375	0.99097	0.0:0.0:1.0:0.0	.	788;798	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	H	788;798;798	ENSP00000354162:R788H;ENSP00000247170:R798H;ENSP00000378557:R798H	ENSP00000247170:R798H	R	+	2	0	DAAM1	58891642	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	3.659000	0.54489	2.906000	0.99361	0.655000	0.94253	CGT		0.378	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		45	49	0	0	0	1	0	45	49					A	59821889	G	A	59821889	3	1	435	1	0	0	0	0	1	0	0	0	4215	1145	40	1	2471	1	DAAM1	14	59821889	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32160	59821889	47527651	6249	27174											
RTN1	6252	broad.mit.edu	37	chr14	60069953	60069953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcttaacatacactacagGtagagtaaacattgaaacca	17	9	7	8	0	0	2	0	1	0	1	0	2	0	2	1	1	6	3	1	1	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:60069953G>A	ENST00000267484.5	-	7	2541	c.2206C>T	c.(2206-2208)Cct>Tct	p.P736S	RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Missense_Mutation_p.P168S|RTN1_ENST00000395090.1_Missense_Mutation_p.P153S	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	736	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.P736S(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TACACTACAGGTAGAGTAAAC	0.303																																						ENST00000267484.5																			1	Substitution - Missense(1)	p.P736S(1)	lung(1)	central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(2206-2208)Cct>Tct		reticulon 1							61	59	60					14																	60069953		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60069953G>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.2206C>T	14.37:g.60069953G>A	ENSP00000267484:p.Pro736Ser					RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Missense_Mutation_p.P168S|RTN1_ENST00000395090.1_Missense_Mutation_p.P153S	p.P736S	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	7	2541	-			736			Reticulon.		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.2206C>T	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	32	5.187437	0.94923	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.77358	-1.09;-1.09;-1.09	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.92215	0.7531	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93022	0.6441	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	153;736;168	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	S	316;736;153;168;662	ENSP00000267484:P736S;ENSP00000378525:P153S;ENSP00000340716:P168S	ENSP00000267484:P736S	P	-	1	0	RTN1	59139706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CCT		0.303	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			28	39	0	0	0	1	0	28	39					A	60069953	G	A	60069953	3	1	435	1	0	0	0	0	1	0	0	0	13725	1261	44	3	136	3	RTN1	14	60069953	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	248064	60069953	47279587	6250	27175											
RTN1	6252	broad.mit.edu	37	chr14	60194301	60194301	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggttctcggcggtttcataCgataatccctttgcttcttt	5	17	9	10	3	3	0	1	0	2	0	5	1	4	0	1	3	2	3	1	3	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:60194301C>T	ENST00000267484.5	-	3	1436	c.1101G>A	c.(1099-1101)tcG>tcA	p.S367S		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	367					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CGGTTTCATACGATAATCCCT	0.622																																						ENST00000267484.5																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(1099-1101)tcG>tcA		reticulon 1							20	18	19					14																	60194301		2199	4294	6493	SO:0001819	synonymous_variant	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60194301C>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1101G>A	14.37:g.60194301C>T							p.S367S	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	3	1436	-			367					Q16800|Q16801|Q5BKZ4|Q9BQ59	Silent	SNP	ENST00000267484.5	37	c.1101G>A	CCDS9740.1																																																																																				0.622	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			10	4	0	0	0	1	0	10	4					T	60194301	C	T	60194301	2	4	435	1	0	0	0	0	0	0	0	1	13725	523	19	1		1	RTN1	14	60194301	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	124348	60194301	47155239	6251	27176											
C14orf135	64430	broad.mit.edu	37	chr14	60600823	60600823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacaaacgatgatgaagaaCgttatagtatacaagctcat	17	9	7	8	2	1	3	1	2	0	1	1	4	1	3	1	0	4	3	1	0	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:60600823C>T	ENST00000406854.1	+	11	3957	c.3403C>T	c.(3403-3405)Cgt>Tgt	p.R1135C	PCNXL4_ENST00000404681.2_Missense_Mutation_p.R1135C|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000535349.1_3'UTR|PCNXL4_ENST00000317623.4_Missense_Mutation_p.R901C			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	1135						integral component of membrane (GO:0016021)											TGATGAAGAACGTTATAGTAT	0.398																																						ENST00000406854.1																			0											c.(3403-3405)Cgt>Tgt		pecanex-like 4 (Drosophila)							138	133	135					14																	60600823		2203	4300	6503	SO:0001583	missense	64430							g.chr14:60600823C>T	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.3403C>T	14.37:g.60600823C>T	ENSP00000384801:p.Arg1135Cys					PCNXL4_ENST00000535349.1_3'UTR|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Missense_Mutation_p.R1135C|PCNXL4_ENST00000317623.4_Missense_Mutation_p.R901C	p.R1135C							11	3957	+								A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.3403C>T		.	.	.	.	.	.	.	.	.	.	C	34	5.302567	0.95601	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000404681	T;T;T	0.67698	-0.28;-0.28;-0.28	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.85699	0.5757	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87581	0.2484	10	0.87932	D	0	.	19.9352	0.97137	0.0:1.0:0.0:0.0	.	1135	Q63HM2	CN135_HUMAN	C	901;1135;1135	ENSP00000317396:R901C;ENSP00000384801:R1135C;ENSP00000385713:R1135C	ENSP00000317396:R901C	R	+	1	0	C14orf135	59670576	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.129000	0.77225	2.703000	0.92315	0.643000	0.83706	CGT		0.398	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		23	40	0	0	0	1	0	23	40					T	60600823	C	T	60600823	3	4	435	1	0	0	0	0	1	0	0	0	1745	536	19	1	2735	1	C14orf135	14	60600823	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	406522	60600823	46748717	6252	27177											
PPM1A	5494	broad.mit.edu	37	chr14	60749508	60749508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatatgggctaagcagcatGcaaggctggcgtgttgaaat	11	9	14	7	2	0	1	0	1	0	0	0	2	0	1	0	3	3	6	0	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:60749508G>A	ENST00000395076.4	+	2	517	c.87G>A	c.(85-87)atG>atA	p.M29I	PPM1A_ENST00000529574.1_Missense_Mutation_p.M29I|PPM1A_ENST00000325642.3_Missense_Mutation_p.M102I|PPM1A_ENST00000325658.3_Missense_Mutation_p.M29I	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	29					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		TAAGCAGCATGCAAGGCTGGC	0.483																																						ENST00000395076.4																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(85-87)atG>atA		protein phosphatase, Mg2+/Mn2+ dependent, 1A							391	349	363					14																	60749508		2203	4300	6503	SO:0001583	missense	5494				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	g.chr14:60749508G>A	S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9275	protein-coding gene	gene with protein product	"phosphatase 2C alpha", "protein phosphatase 2C, alpha isoform"	606108	"protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.87G>A	14.37:g.60749508G>A	ENSP00000378514:p.Met29Ile					PPM1A_ENST00000325642.3_Missense_Mutation_p.M102I|PPM1A_ENST00000529574.1_Missense_Mutation_p.M29I|PPM1A_ENST00000325658.3_Missense_Mutation_p.M29I	p.M29I	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.046)	2	517	+			29					B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000395076.4	37	c.87G>A	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721308	0.89205	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076;ENST00000325658;ENST00000528241;ENST00000525399;ENST00000531937	T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29	5.75	5.75	0.90469	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.44953	0.1318	M	0.73319	2.225	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.81914	0.995;0.993;0.993	T	0.32268	-0.9913	10	0.87932	D	0	-4.3181	19.9233	0.97095	0.0:0.0:1.0:0.0	.	29;29;29	P35813;P35813-2;B2R8E4	PPM1A_HUMAN;.;.	I	102;29;29;29;29;29;29	ENSP00000327255:M102I;ENSP00000432966:M29I;ENSP00000378514:M29I;ENSP00000314850:M29I;ENSP00000431453:M29I;ENSP00000435398:M29I;ENSP00000435575:M29I	ENSP00000327255:M102I	M	+	3	0	PPM1A	59819261	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.704000	0.92352	0.591000	0.81541	ATG		0.483	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003		7	192	0	0	0	1	0	7	192					A	60749508	G	A	60749508	3	1	435	1	0	0	0	0	1	0	0	0	12335	1319	46	3	312	3	PPM1A	14	60749508	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	148685	60749508	46600032	6253	27178											
PPM1A	5494	broad.mit.edu	37	chr14	60750032	60750032	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggattttgattacaaatGtgtccatggaaaaggtccta	12	13	11	5	0	0	1	0	1	0	0	2	3	2	3	2	4	1	0	2	4	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:60750032G>C	ENST00000395076.4	+	2	1041	c.611G>C	c.(610-612)tGt>tCt	p.C204S	PPM1A_ENST00000529574.1_Missense_Mutation_p.C204S|PPM1A_ENST00000325642.3_Missense_Mutation_p.C277S|PPM1A_ENST00000325658.3_Missense_Mutation_p.C204S	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	204					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GATTACAAATGTGTCCATGGA	0.448																																						ENST00000395076.4																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(610-612)tGt>tCt		protein phosphatase, Mg2+/Mn2+ dependent, 1A							124	115	118					14																	60750032		2203	4300	6503	SO:0001583	missense	5494				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	g.chr14:60750032G>C	S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9275	protein-coding gene	gene with protein product	"phosphatase 2C alpha", "protein phosphatase 2C, alpha isoform"	606108	"protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.611G>C	14.37:g.60750032G>C	ENSP00000378514:p.Cys204Ser					PPM1A_ENST00000325642.3_Missense_Mutation_p.C277S|PPM1A_ENST00000529574.1_Missense_Mutation_p.C204S|PPM1A_ENST00000325658.3_Missense_Mutation_p.C204S	p.C204S	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.046)	2	1041	+			204					B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000395076.4	37	c.611G>C	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	G	9.786	1.176512	0.21704	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076;ENST00000325658	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.69	5.69	0.88448	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.11367	0.0277	N	0.12887	0.27	0.80722	D	1	B;B;B	0.10296	0.003;0.001;0.003	B;B;B	0.12837	0.008;0.003;0.008	T	0.17623	-1.0363	10	0.09338	T	0.73	-3.3403	19.8148	0.96562	0.0:0.0:1.0:0.0	.	204;204;204	P35813;P35813-2;B2R8E4	PPM1A_HUMAN;.;.	S	277;204;204;204	ENSP00000327255:C277S;ENSP00000432966:C204S;ENSP00000378514:C204S;ENSP00000314850:C204S	ENSP00000327255:C277S	C	+	2	0	PPM1A	59819785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.685000	0.91497	0.585000	0.79938	TGT		0.448	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003		32	32	0	0	0	1	0	32	32					C	60750032	G	C	60750032	3	2	435	1	0	0	0	0	1	0	0	0	12335	1377	48	5	836	5	PPM1A	14	60750032	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	524	60750032	46599508	6254	27179											
SIX6	4990	broad.mit.edu	37	chr14	60976281	60976281	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatgagtcggtgctacgCgcacgagccatcgtggcctt	9	8	13	11	5	0	2	0	1	0	1	2	3	0	2	2	2	3	2	2	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:60976281C>T	ENST00000327720.5	+	1	613	c.165C>T	c.(163-165)cgC>cgT	p.R55R		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	55					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		CGGTGCTACGCGCACGAGCCA	0.622																																						ENST00000327720.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11						c.(163-165)cgC>cgT		SIX homeobox 6							42	44	43					14																	60976281		2203	4300	6503	SO:0001819	synonymous_variant	4990				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:60976281C>T	AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"Homeoboxes / SINE class"	10892	protein-coding gene	gene with protein product		606326	"sine oculis homeobox (Drosophila) homolog 6", "sine oculis homeobox homolog 6 (Drosophila)"	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.165C>T	14.37:g.60976281C>T							p.R55R	NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)	1	613	+			55					Q6NT42|Q9P1X8	Silent	SNP	ENST00000327720.5	37	c.165C>T	CCDS9747.1																																																																																				0.622	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2			5	19	0	0	0	1	0	5	19					T	60976281	C	T	60976281	2	4	435	1	0	0	0	0	0	0	0	1	14351	755	27	1		1	SIX6	14	60976281	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	226249	60976281	46373259	6255	27180											
HIF1A	3091	broad.mit.edu	37	chr14	62193429	62193429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgctttcattaggccttGtgaaaaagggtaaagaacaa	15	11	9	6	0	2	2	2	1	0	1	2	2	2	2	1	2	2	2	1	2	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:62193429G>A	ENST00000337138.4	+	5	728	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	HIF1A_ENST00000557538.1_Missense_Mutation_p.V96M|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000539097.1_Missense_Mutation_p.V179M|HIF1A_ENST00000394997.1_Missense_Mutation_p.V156M|HIF1A_ENST00000557206.1_3'UTR|HIF1A_ENST00000323441.6_Missense_Mutation_p.V155M	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	155	Interaction with TSGA10. {ECO:0000250}.|PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	ATTAGGCCTTGTGAAAAAGGG	0.343																																						ENST00000394997.1																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23						c.(466-468)Gtg>Atg		hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)							72	69	70					14																	62193429		2203	4300	6503	SO:0001583	missense	3091				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	g.chr14:62193429G>A	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.463G>A	14.37:g.62193429G>A	ENSP00000338018:p.Val155Met					HIF1A_ENST00000323441.6_Missense_Mutation_p.V155M|HIF1A_ENST00000539097.1_Missense_Mutation_p.V179M|HIF1A_ENST00000337138.4_Missense_Mutation_p.V155M|HIF1A_ENST00000557206.1_3'UTR|HIF1A_ENST00000557538.1_Missense_Mutation_p.V96M|HIF1A-AS2_ENST00000554254.1_lincRNA	p.V156M			Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	5	731	+			155			Interaction with TSGA10 (By similarity).|PAS 1.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	c.466G>A	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169320	0.78339	.	.	ENSG00000100644	ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.92	5.92	0.95590	PAS (1);	0.452321	0.25642	N	0.029263	T	0.26702	0.0653	L	0.52905	1.665	0.50313	D	0.999865	P;P;P	0.36222	0.544;0.544;0.544	B;B;B	0.40677	0.337;0.337;0.337	T	0.00715	-1.1597	10	0.52906	T	0.07	.	20.3213	0.98679	0.0:0.0:1.0:0.0	.	156;155;155	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	M	96;155;156;155;96;179	ENSP00000338018:V155M;ENSP00000378446:V156M;ENSP00000323326:V155M;ENSP00000451696:V96M;ENSP00000437955:V179M	ENSP00000323326:V155M	V	+	1	0	HIF1A	61263182	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.078000	0.57606	2.810000	0.96702	0.650000	0.86243	GTG		0.343	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		16	24	0	0	0	1	0	16	24					A	62193429	G	A	62193429	3	1	435	1	0	0	0	0	1	0	0	0	7103	1377	48	3	481	3	HIF1A	14	62193429	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1217148	62193429	45156111	6256	27181											
HIF1A	3091	broad.mit.edu	37	chr14	62207832	62207832	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaccaaacagagcaggAaaaggagtcatagaacagac	18	3	10	10	0	2	3	2	0	0	3	2	5	2	5	2	2	3	1	2	2	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:62207832A>G	ENST00000337138.4	+	12	2284	c.2019A>G	c.(2017-2019)ggA>ggG	p.G673G	RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000557538.1_Silent_p.G614G|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000539097.1_Silent_p.G697G|HIF1A_ENST00000394997.1_Silent_p.G674G|HIF1A_ENST00000323441.6_Silent_p.G673G	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	673	ID.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	ACAGAGCAGGAAAAGGAGTCA	0.398																																						ENST00000394997.1																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23						c.(2020-2022)ggA>ggG		hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)							100	94	96					14																	62207832		2203	4300	6503	SO:0001819	synonymous_variant	3091				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	g.chr14:62207832A>G	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.2019A>G	14.37:g.62207832A>G						HIF1A_ENST00000323441.6_Silent_p.G673G|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000539097.1_Silent_p.G697G|HIF1A_ENST00000337138.4_Silent_p.G673G|HIF1A_ENST00000557538.1_Silent_p.G614G|HIF1A-AS2_ENST00000554254.1_lincRNA	p.G674G			Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	12	2287	+			673			ID.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Silent	SNP	ENST00000337138.4	37	c.2022A>G	CCDS9753.1																																																																																				0.398	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		22	36	0	0	0	1	0	22	36					G	62207832	A	G	62207832	2	3	435	1	0	0	0	0	0	0	0	1	7103	233	9	4		4	HIF1A	14	62207832	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	14403	62207832	45141708	6257	27182											
KCNH5	27133	broad.mit.edu	37	chr14	63174354	63174354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagatgaggcctggggtaCgcttttttccgacagtattt	7	13	14	7	2	0	2	0	1	0	1	1	4	1	2	2	4	1	3	2	4	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:63174354C>T	ENST00000322893.7	-	11	3107	c.2839G>A	c.(2839-2841)Gta>Ata	p.V947I	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	947	CAD (involved in subunit assembly). {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.V947L(1)		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)		GCCTGGGGTACGCTTTTTTCC	0.473																																						ENST00000322893.7																			1	Substitution - Missense(1)	p.V947L(1)	breast(1)	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						c.(2839-2841)Gta>Ata		potassium voltage-gated channel, subfamily H (eag-related), member 5							133	144	140					14																	63174354		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174354C>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2839G>A	14.37:g.63174354C>T	ENSP00000321427:p.Val947Ile					KCNH5_ENST00000420622.2_3'UTR	p.V947I	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	3107	-			947			CAD (involved in subunit assembly) (By similarity).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2839G>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.504859	0.00992	.	.	ENSG00000140015	ENST00000322893	D	0.98849	-5.18	5.66	-4.91	0.03085	.	1.705300	0.02766	N	0.119184	D	0.93455	0.7912	N	0.08118	0	0.09310	N	1	B	0.24426	0.103	B	0.21360	0.034	D	0.90823	0.4710	10	0.37606	T	0.19	.	3.6515	0.08205	0.1594:0.3323:0.0786:0.4297	.	947	Q8NCM2	KCNH5_HUMAN	I	947	ENSP00000321427:V947I	ENSP00000321427:V947I	V	-	1	0	KCNH5	62244107	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.234000	0.02931	-0.907000	0.03862	-0.797000	0.03246	GTA		0.473	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		42	88	0	0	0	1	0	42	88					T	63174354	C	T	63174354	3	4	435	1	0	0	0	0	1	0	0	0	8035	536	19	1	131	1	KCNH5	14	63174354	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	966522	63174354	44175186	6258	27183											
RHOJ	57381	broad.mit.edu	37	chr14	63747840	63747840	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcacgtgccttatgtccTcatagggacccaggttaaaa	10	10	9	12	1	2	0	2	0	0	0	3	1	3	1	4	2	1	1	4	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:63747840T>C	ENST00000316754.3	+	3	851	c.389T>C	c.(388-390)cTc>cCc	p.L130P	RHOJ_ENST00000555125.1_Missense_Mutation_p.L130P	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	130					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			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)		CCTTATGTCCTCATAGGGACC	0.527																																						ENST00000316754.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21						c.(388-390)cTc>cCc		ras homolog family member J							104	84	91					14																	63747840		2203	4300	6503	SO:0001583	missense	57381				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr14:63747840T>C	AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"RAS-like, family 7, member B", "ras homolog gene family, member J"	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.389T>C	14.37:g.63747840T>C	ENSP00000316729:p.Leu130Pro					RHOJ_ENST00000555125.1_Missense_Mutation_p.L130P	p.L130P	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)	3	851	+			130					Q96KC1	Missense_Mutation	SNP	ENST00000316754.3	37	c.389T>C	CCDS9757.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.711416	0.89112	.	.	ENSG00000126785	ENST00000316754;ENST00000555125	D;D	0.85955	-2.05;-2.05	5.87	5.87	0.94306	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.95847	0.8648	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97705	1.0187	10	0.87932	D	0	.	16.2774	0.82651	0.0:0.0:0.0:1.0	.	130	Q9H4E5	RHOJ_HUMAN	P	130	ENSP00000316729:L130P;ENSP00000451643:L130P	ENSP00000316729:L130P	L	+	2	0	RHOJ	62817593	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.020000	0.88740	2.247000	0.74100	0.482000	0.46254	CTC		0.527	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3			3	15	0	0	0	1	0	3	15					C	63747840	T	C	63747840	3	2	435	1	0	0	0	0	1	0	0	0	13341	1551	54	4	399	4	RHOJ	14	63747840	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	573486	63747840	43601700	6259	27184											
GPHB5	122876	broad.mit.edu	37	chr14	63784459	63784459	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaactccctcacggcacaGcccacaaaggtgcgcaggtt	11	6	10	14	2	1	0	1	0	0	0	2	0	2	0	2	3	3	4	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:63784459G>A	ENST00000539258.1	-	0	161							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5						regulation of thyroid hormone mediated signaling pathway (GO:0002155)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		TCACGGCACAGCCCACAAAGG	0.627																																						ENST00000539258.1																			0				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7								glycoprotein hormone beta 5							43	46	45					14																	63784459		2003	4172	6175			122876					extracellular region	hormone activity	g.chr14:63784459G>A	AF467770	CCDS73643.1	14q23.3	2006-09-25				ENSG00000179600			18055	protein-coding gene	gene with protein product		609652					Standard	NM_145171		Approved	ZLUT1, GPB5	uc021rud.1	Q86YW7			14.37:g.63784459G>A										Q86YW7	GPHB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)	0	161	-								Q6NTD0|Q8NFW2	RNA	SNP	ENST00000539258.1	37																																																																																						0.627	GPHB5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000400582.1	NM_145171		9	28	0	0	0	1	0	9	28					A	63784459	G	A	63784459	1	1	435	0	1	0	0	0	0	0	0	0	6609	958	34	3		3	GPHB5	14	63784459	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	36619	63784459	43565081	6260	27185											
SYNE2	23224	broad.mit.edu	37	chr14	64496757	64496758	+	Frame_Shift_Ins	INS	-	-	A																															ggatcaaatagcggttgaggINSaaaaattgcagaaactgcag																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:64496757_64496758insA	ENST00000344113.4	+	44	7071_7072	c.6859_6860insA	c.(6859-6861)gaafs	p.E2287fs	SYNE2_ENST00000554584.1_Frame_Shift_Ins_p.E2287fs|SYNE2_ENST00000358025.3_Frame_Shift_Ins_p.E2287fs|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2287					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			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)		AGCGGTTGAGGAAAAATTGCAG	0.371																																						ENST00000358025.3																			0				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						c.(6859-6861)aaafs		spectrin repeat containing, nuclear envelope 2																																				SO:0001589	frameshift_variant	23224				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	g.chr14:64496757_64496758insA	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6864dupA	14.37:g.64496762_64496762dupA	ENSP00000341781:p.Glu2287fs					SYNE2_ENST00000554584.1_Frame_Shift_Ins_p.K2287fs|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Frame_Shift_Ins_p.K2287fs	p.K2287fs	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	44	7089_7090	+			2287					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Ins	INS	ENST00000344113.4	37	c.6859_6860insA	CCDS41963.1																																																																																				0.371	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		8	48						8	48	---	---	---	---	A	64496758	-	A	64496757	7	5	435	1	0	1	1	0	0	0	0	0	15443	1175	41	0	7029	0	SYNE2	14	64496757	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	712298	64496757	42852783	6261	27186											
SYNE2	23224	broad.mit.edu	37	chr14	64497799	64497799	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttagctttagcaaaatcCgtcaagcaaaatacatcttc	15	13	4	9	1	2	0	1	0	1	0	4	0	3	0	1	0	4	3	1	0	8	6	rs564454573		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:64497799C>T	ENST00000344113.4	+	45	7157	c.6945C>T	c.(6943-6945)tcC>tcT	p.S2315S	SYNE2_ENST00000554584.1_Silent_p.S2315S|SYNE2_ENST00000358025.3_Silent_p.S2315S|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2315					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			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)		TAGCAAAATCCGTCAAGCAAA	0.343													C|||	1	0.000199681	0	0	5008	,	,		19712	0		0.001	False		,,,				2504	0					ENST00000358025.3																			0				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						c.(6943-6945)tcC>tcT		spectrin repeat containing, nuclear envelope 2							105	103	104					14																	64497799		1809	4081	5890	SO:0001819	synonymous_variant	23224				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	g.chr14:64497799C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6945C>T	14.37:g.64497799C>T						SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.S2315S|SYNE2_ENST00000344113.4_Silent_p.S2315S	p.S2315S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	45	7175	+			2315					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.6945C>T	CCDS41963.1																																																																																				0.343	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		29	57	0	0	0	1	0	29	57					T	64497799	C	T	64497799	2	4	435	1	0	0	0	0	0	0	0	1	15443	639	23	2		2	SYNE2	14	64497799	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1042	64497799	42851741	6262	27187											
SYNE2	23224	broad.mit.edu	37	chr14	64637027	64637027	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcggcagaggaagggtgaCgttgatgggctggtgaggca	8	8	20	5	2	0	4	0	3	0	1	1	5	0	5	0	6	0	5	0	6	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:64637027C>T	ENST00000344113.4	+	94	17294	c.17082C>T	c.(17080-17082)gaC>gaT	p.D5694D	SYNE2_ENST00000554584.1_Silent_p.D5569D|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.D2079D|SYNE2_ENST00000358025.3_Silent_p.D5694D|SYNE2_ENST00000555002.1_Silent_p.D2328D|SYNE2_ENST00000357395.3_Silent_p.D2079D	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5694					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			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)		GGAAGGGTGACGTTGATGGGC	0.502																																						ENST00000357395.3																			0				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						c.(6235-6237)gaC>gaT		spectrin repeat containing, nuclear envelope 2							167	139	148					14																	64637027		2203	4300	6503	SO:0001819	synonymous_variant	23224				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	g.chr14:64637027C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17082C>T	14.37:g.64637027C>T						SYNE2_ENST00000358025.3_Silent_p.D5694D|SYNE2_ENST00000554584.1_Silent_p.D5569D|SYNE2_ENST00000344113.4_Silent_p.D5694D|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.D2328D|SYNE2_ENST00000394768.2_Silent_p.D2079D	p.D2079D			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	95	17381	+			5694					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.6237C>T	CCDS41963.1																																																																																				0.502	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		20	37	0	0	0	1	0	20	37					T	64637027	C	T	64637027	2	4	435	1	0	0	0	0	0	0	0	1	15443	535	19	1		1	SYNE2	14	64637027	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	139228	64637027	42712513	6263	27188											
SYNE2	23224	broad.mit.edu	37	chr14	64676265	64676265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcagaggtgttgtacaCgagtgccaaagaggaactga	12	9	12	8	1	1	3	1	1	0	2	2	5	2	4	2	2	3	2	2	2	3	3	rs200893937		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:64676265C>T	ENST00000344113.4	+	102	18721	c.18509C>T	c.(18508-18510)aCg>aTg	p.T6170M	SYNE2_ENST00000555022.1_Missense_Mutation_p.T48M|SYNE2_ENST00000554584.1_Missense_Mutation_p.T6132M|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.T2555M|SYNE2_ENST00000358025.3_Missense_Mutation_p.T6170M|SYNE2_ENST00000554805.1_5'UTR|SYNE2_ENST00000555002.1_Missense_Mutation_p.T2804M|SYNE2_ENST00000357395.3_Missense_Mutation_p.T2555M	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6170					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			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)		GTGTTGTACACGAGTGCCAAA	0.527													C|||	1	0.000199681	0	0	5008	,	,		20958	0.001		0	False		,,,				2504	0					ENST00000357395.3																			0				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						c.(7663-7665)aCg>aTg		spectrin repeat containing, nuclear envelope 2							67	61	63					14																	64676265		2203	4300	6503	SO:0001583	missense	23224				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	g.chr14:64676265C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18509C>T	14.37:g.64676265C>T	ENSP00000341781:p.Thr6170Met					SYNE2_ENST00000358025.3_Missense_Mutation_p.T6170M|SYNE2_ENST00000554584.1_Missense_Mutation_p.T6132M|SYNE2_ENST00000344113.4_Missense_Mutation_p.T6170M|SYNE2_ENST00000555022.1_Missense_Mutation_p.T48M|SYNE2_ENST00000554805.1_5'UTR|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.T2804M|SYNE2_ENST00000394768.2_Missense_Mutation_p.T2555M	p.T2555M			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	103	18808	+			6170					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.7664C>T	CCDS41963.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.31	1.900590	0.33535	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000556906;ENST00000555022	T;T;T;T;T;T;T;T	0.60672	0.64;0.64;0.64;0.17;0.64;0.64;0.66;0.64	5.54	5.54	0.83059	.	0.000000	0.51477	D	0.000095	T	0.78000	0.4215	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.995;0.994	D;D;D;D;P	0.79108	0.954;0.989;0.992;0.957;0.785	T	0.79820	-0.1642	10	0.66056	D	0.02	.	19.4739	0.94976	0.0:1.0:0.0:0.0	.	2555;558;6132;6170;6170	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	M	6170;2555;6170;6132;6138;2804;2555;140;48	ENSP00000350719:T6170M;ENSP00000349969:T2555M;ENSP00000341781:T6170M;ENSP00000452570:T6132M;ENSP00000450831:T2804M;ENSP00000378249:T2555M;ENSP00000452298:T140M;ENSP00000451009:T48M	ENSP00000261678:T6138M	T	+	2	0	SYNE2	63746018	0.999000	0.42202	0.952000	0.39060	0.633000	0.38033	4.027000	0.57239	2.581000	0.87130	0.609000	0.83330	ACG		0.527	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		21	22	0	0	0	1	0	21	22					T	64676265	C	T	64676265	3	4	435	1	0	0	0	0	1	0	0	0	15443	536	19	1	18911	1	SYNE2	14	64676265	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	39238	64676265	42673275	6264	27189											
AKAP5	9495	broad.mit.edu	37	chr14	64936178	64936178	+	Frame_Shift_Del	DEL	A	A	-																															aatttgatgttacaaaatctAaaaatgtccctaagcaattc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:64936178delA	ENST00000394718.4	+	2	1444	c.1066delA	c.(1066-1068)aaafs	p.K356fs	ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000320636.5_Frame_Shift_Del_p.K356fs|ZBTB25_ENST00000555220.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	356					energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		TACAAAATCTAAAAATGTCCC	0.323																																						ENST00000320636.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13						c.(1066-1068)aafs		A kinase (PRKA) anchor protein 5							91	104	100					14																	64936178		2203	4299	6502	SO:0001589	frameshift_variant	9495				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	g.chr14:64936178delA	M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"A-kinase anchor proteins"	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.1066delA	14.37:g.64936178delA	ENSP00000378207:p.Lys356fs					AKAP5_ENST00000394718.3_Frame_Shift_Del_p.K356fs|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron	p.K356fs			P24588	AKAP5_HUMAN		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)	1	2354	+			356					A2RRB8	Frame_Shift_Del	DEL	ENST00000394718.4	37	c.1066delA	CCDS9764.1																																																																																				0.323	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3			53	80						53	80	---	---	---	---	-	64936178	A	-	64936178	7	5	435	1	0	1	0	1	0	0	0	0	454	363	13	0	1068	0	AKAP5	14	64936178	Frame_Shift_Del	DEL	A	TCGA-XK-AAIW-01A-11D-A41K-08	259913	64936178	42413362	6265	27190											
HSPA2	3306	broad.mit.edu	37	chr14	65008446	65008446	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgactcgctctacgagggCgtggacttctatacgtccat	8	11	10	12	5	2	0	0	0	2	0	5	3	3	1	1	2	2	1	1	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:65008446C>T	ENST00000394709.1	+	2	955	c.879C>T	c.(877-879)ggC>ggT	p.G293G	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000247207.6_Silent_p.G293G			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	293					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			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)		TCTACGAGGGCGTGGACTTCT	0.687																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(877-879)ggC>ggT		heat shock 70kDa protein 2							20	20	20					14																	65008446		2203	4298	6501	SO:0001819	synonymous_variant	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008446C>T	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.879C>T	14.37:g.65008446C>T						HSPA2_ENST00000394709.1_Silent_p.G293G	p.G293G	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	1261	+			293					Q15508|Q53XM3|Q9UE78	Silent	SNP	ENST00000394709.1	37	c.879C>T	CCDS9766.1																																																																																				0.687	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			7	9	0	0	0	1	0	7	9					T	65008446	C	T	65008446	2	4	435	1	0	0	0	0	0	0	0	1	7411	755	27	1		1	HSPA2	14	65008446	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	72268	65008446	42341094	6266	27191											
C14orf50	145376	broad.mit.edu	37	chr14	65031490	65031490	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttacacctgcagcagaagtCaaggaaaaaggaaagaaagg	19	5	11	6	0	1	2	1	0	0	2	1	4	1	4	1	3	3	2	1	3	7	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:65031490C>T	ENST00000298705.1	+	4	300	c.204C>T	c.(202-204)gtC>gtT	p.V68V	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	68					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CAGCAGAAGTCAAGGAAAAAG	0.398																																						ENST00000298705.1																			0											c.(202-204)gtC>gtT		protein phosphatase 1, regulatory subunit 36							167	168	167					14																	65031490		2203	4300	6503	SO:0001819	synonymous_variant	145376							g.chr14:65031490C>T		CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20097	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 50"	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.204C>T	14.37:g.65031490C>T						RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	p.V68V	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN			4	300	+			68					Q6NTH6	Silent	SNP	ENST00000298705.1	37	c.204C>T	CCDS9767.1																																																																																				0.398	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280667.1	NM_172365		40	68	0	0	0	1	0	40	68					T	65031490	C	T	65031490	2	4	435	1	0	0	0	0	0	0	0	1	1777	813	29	3		3	C14orf50	14	65031490	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	23044	65031490	42318050	6267	27192											
PLEKHG3	26030	broad.mit.edu	37	chr14	65197639	65197639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgctgaagccagtccagcGcatcctcaagtaccacctgc	9	7	8	17	1	1	1	1	1	0	0	3	1	3	1	6	0	5	3	6	0	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:65197639G>A	ENST00000394691.1	+	6	836	c.689G>A	c.(688-690)cGc>cAc	p.R230H	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.R174H			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	230	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCAGTCCAGCGCATCCTCAAG	0.652																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(520-522)cGc>cAc		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							47	49	49					14																	65197639		2203	4300	6503	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65197639G>A	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.689G>A	14.37:g.65197639G>A	ENSP00000378183:p.Arg230His					PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R230H	p.R174H	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	4	829	+			230			DH.		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.521G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.158836	0.94686	.	.	ENSG00000126822	ENST00000247226;ENST00000394691	D;D	0.87729	-2.29;-2.29	4.67	4.67	0.58626	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000001	D	0.95968	0.8687	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97695	1.0181	10	0.87932	D	0	.	16.7067	0.85374	0.0:0.0:1.0:0.0	.	230;174	A1L390;A1L390-3	PKHG3_HUMAN;.	H	174;230	ENSP00000247226:R174H;ENSP00000378183:R230H	ENSP00000247226:R174H	R	+	2	0	PLEKHG3	64267392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.626000	0.98410	2.288000	0.76882	0.561000	0.74099	CGC		0.652	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		14	22	0	0	0	1	0	14	22					A	65197639	G	A	65197639	3	1	435	1	0	0	0	0	1	0	0	0	12070	1087	38	1	531	1	PLEKHG3	14	65197639	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	166149	65197639	42151901	6268	27193											
PLEKHG3	26030	broad.mit.edu	37	chr14	65205538	65205538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaccagtactgagaagCgcatgagcttcgagtccatt	11	9	9	12	2	0	2	0	2	0	1	3	4	2	2	3	0	4	3	3	0	3	3	rs375116826		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:65205538C>T	ENST00000394691.1	+	15	1630	c.1483C>T	c.(1483-1485)Cgc>Tgc	p.R495C	PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R28C|PLEKHG3_ENST00000484731.2_5'UTR|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.R439C			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	495							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TACTGAGAAGCGCATGAGCTT	0.567																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(1315-1317)Cgc>Tgc		pleckstrin homology domain containing, family G (with RhoGef domain) member 3		C	CYS/ARG	0,4406		0,0,2203	61	49	53		1315	2.4	1	14		53	1,8597		0,1,4298	no	missense	PLEKHG3	NM_015549.1	180	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	439/1164	65205538	1,13003	2203	4299	6502	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65205538C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1483C>T	14.37:g.65205538C>T	ENSP00000378183:p.Arg495Cys					PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R495C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R28C|PLEKHG3_ENST00000484731.2_5'UTR	p.R439C	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	13	1623	+			495					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.1315C>T		.	.	.	.	.	.	.	.	.	.	C	13.28	2.189940	0.38707	0.0	1.16E-4	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182	T;T;T	0.30981	1.51;1.51;1.51	5.3	2.36	0.29203	.	0.525519	0.19141	N	0.121698	T	0.18467	0.0443	L	0.34521	1.04	0.80722	D	1	B;B;B	0.24368	0.054;0.102;0.08	B;B;B	0.14578	0.011;0.01;0.011	T	0.06789	-1.0807	10	0.39692	T	0.17	.	4.1593	0.10275	0.4447:0.375:0.0:0.1804	.	28;495;439	A1L390-2;A1L390;A1L390-3	.;PKHG3_HUMAN;.	C	439;495;28	ENSP00000247226:R439C;ENSP00000378183:R495C;ENSP00000450945:R28C	ENSP00000247226:R439C	R	+	1	0	PLEKHG3	64275291	0.065000	0.20965	1.000000	0.80357	0.998000	0.95712	-0.063000	0.11655	0.563000	0.29222	0.561000	0.74099	CGC		0.567	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		5	5	0	0	0	1	0	5	5					T	65205538	C	T	65205538	3	4	435	1	0	0	0	0	1	0	0	0	12070	768	27	1	1361	1	PLEKHG3	14	65205538	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7899	65205538	42144002	6269	27194											
PLEKHG3	26030	broad.mit.edu	37	chr14	65208801	65208801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggagcatgagctgggaGccatcacagaggagtcggcc	10	5	17	9	1	1	2	1	1	0	1	2	6	1	6	2	5	3	2	2	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:65208801G>A	ENST00000394691.1	+	16	2713	c.2566G>A	c.(2566-2568)Gcc>Acc	p.A856T	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.A389T|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.A361T|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.A800T			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	856							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGAGCTGGGAGCCATCACAGA	0.662																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(2398-2400)Gcc>Acc		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							28	32	31					14																	65208801		2203	4296	6499	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65208801G>A	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2566G>A	14.37:g.65208801G>A	ENSP00000378183:p.Ala856Thr					PLEKHG3_ENST00000394691.1_Missense_Mutation_p.A856T|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.A389T|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.A361T	p.A800T	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	14	2706	+			856					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.2398G>A		.	.	.	.	.	.	.	.	.	.	G	17.00	3.276746	0.59758	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.61510	0.55;0.1;1.43;1.42	6.08	5.19	0.71726	.	0.000000	0.64402	D	0.000005	T	0.66218	0.2767	L	0.43757	1.38	0.35710	D	0.81629	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.998;0.999	T	0.71951	-0.4437	10	0.38643	T	0.18	.	10.2856	0.43564	0.151:0.0:0.849:0.0	.	389;361;856;800	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	T	800;856;389;361	ENSP00000247226:A800T;ENSP00000378183:A856T;ENSP00000450945:A389T;ENSP00000450973:A361T	ENSP00000247226:A800T	A	+	1	0	PLEKHG3	64278554	0.993000	0.37304	0.999000	0.59377	0.855000	0.48748	2.429000	0.44758	1.590000	0.49995	0.655000	0.94253	GCC		0.662	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		12	24	0	0	0	1	0	12	24					A	65208801	G	A	65208801	3	1	435	1	0	0	0	0	1	0	0	0	12070	971	34	3	2448	3	PLEKHG3	14	65208801	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3263	65208801	42140739	6270	27195											
GPX2	2877	broad.mit.edu	37	chr14	65406370	65406370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctccaaatgatgagcttggGatcggtcatgagggaaaatg	12	9	14	6	1	1	3	1	3	0	0	3	5	2	5	1	3	1	2	1	3	3	1	rs565763403		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:65406370G>A	ENST00000389614.5	-	2	495	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	137					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)			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)	ATGAGCTTGGGATCGGTCATG	0.547																																						ENST00000389614.5																			0				large_intestine(2)|ovary(1)|skin(1)	4						c.(409-411)Ccc>Tcc		glutathione peroxidase 2 (gastrointestinal)	Glutathione(DB00143)						103	99	101					14																	65406370		1990	4171	6161	SO:0001583	missense	2877				response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity	g.chr14:65406370G>A		CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.409C>T	14.37:g.65406370G>A	ENSP00000374265:p.Pro137Ser					CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	p.P137S	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN		all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	2	495	-			137					Q6PJ52|Q8WWI7|Q9NRP9	Missense_Mutation	SNP	ENST00000389614.5	37	c.409C>T	CCDS41964.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711428	0.68730	.	.	ENSG00000176153	ENST00000389614;ENST00000557049	T;T	0.21734	1.99;3.8	6.05	6.05	0.98169	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.24890	0.0604	M	0.64567	1.98	0.80722	D	1	P	0.42248	0.774	B	0.36134	0.218	T	0.02004	-1.1231	10	0.26408	T	0.33	-1.2987	19.3727	0.94495	0.0:0.0:1.0:0.0	.	137	P18283	GPX2_HUMAN	S	137;81	ENSP00000374265:P137S;ENSP00000451721:P81S	ENSP00000374265:P137S	P	-	1	0	GPX2	64476123	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CCC		0.547	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000414708.1			23	32	0	0	0	1	0	23	32					A	65406370	G	A	65406370	3	1	435	1	0	0	0	0	1	0	0	0	6740	1174	41	3	167	3	GPX2	14	65406370	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	197569	65406370	41943170	6271	27196											
RAB15	376267	broad.mit.edu	37	chr14	65417801	65417801	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctcctacctcatccacGtcactgacccacttcatgat	9	11	4	17	1	4	2	3	2	1	0	6	2	5	2	4	0	1	1	4	0	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:65417801G>A	ENST00000533601.2	-	4	652	c.315C>T	c.(313-315)gaC>gaT	p.D105D	RAB15_ENST00000426039.3_Silent_p.D59D|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron|RAB15_ENST00000436278.2_Silent_p.D59D|RAB15_ENST00000267512.5_Silent_p.D105D			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	105					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			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)		CCTCATCCACGTCACTGACCC	0.537																																						ENST00000533601.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(313-315)gaC>gaT		RAB15, member RAS oncogene family							70	66	68					14																	65417801		2203	4300	6503	SO:0001819	synonymous_variant	376267				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr14:65417801G>A	BC014511	CCDS9768.1	14q23.2	2012-02-28	2012-02-28		ENSG00000139998	ENSG00000139998		"RAB, member RAS oncogene"	20150	protein-coding gene	gene with protein product						11697911	Standard	NM_198686		Approved		uc001xhz.2	P59190	OTTHUMG00000142810	ENST00000533601.2:c.315C>T	14.37:g.65417801G>A						RAB15_ENST00000436278.2_Silent_p.D59D|CHURC1-FNTB_ENST00000542227.1_Intron|RAB15_ENST00000426039.3_Silent_p.D59D|CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000267512.5_Silent_p.D105D	p.D105D			P59190	RAB15_HUMAN		all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)	4	652	-			105					G5EMR7|Q86TX7|Q8IW89	Silent	SNP	ENST00000533601.2	37	c.315C>T																																																																																					0.537	RAB15-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390443.2	NM_198686		31	39	0	0	0	1	0	31	39					A	65417801	G	A	65417801	2	1	435	1	0	0	0	0	0	0	0	1	12901	1136	40	1		1	RAB15	14	65417801	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11431	65417801	41931739	6272	27197											
MAX	4149	broad.mit.edu	37	chr14	65550920	65550920	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatcttgcattcttttttcTtgtgcacttggtagcttgaa	8	19	7	7	0	3	1	0	1	3	0	3	1	3	1	0	1	3	4	0	1	3	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:65550920T>C	ENST00000358664.4	-	4	302				MAX_ENST00000556979.1_Intron|MAX_ENST00000246163.2_Missense_Mutation_p.K90R|MAX_ENST00000358402.4_Intron|MAX_ENST00000284165.6_Intron|MAX_ENST00000556443.1_Intron|RP11-840I19.3_ENST00000556127.1_RNA|MAX_ENST00000557277.1_Intron|MAX_ENST00000555932.1_Intron|MAX_ENST00000557746.1_Intron|MAX_ENST00000555667.1_Intron|MAX_ENST00000341653.2_Intron|MAX_ENST00000555419.1_Intron	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X						cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		TTCTTTTTTCTTGTGCACTTG	0.388																																						ENST00000246163.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17						c.(268-270)aAg>aGg		MYC associated factor X							222	215	218					14																	65550920		2203	4300	6503	SO:0001627	intron_variant	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65550920T>C		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"Basic helix-loop-helix proteins"	6913	protein-coding gene	gene with protein product		154950	"MAX protein"			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.172-6166A>G	14.37:g.65550920T>C						MAX_ENST00000358664.4_Intron|MAX_ENST00000358402.4_Intron|MAX_ENST00000284165.6_Intron|MAX_ENST00000555419.1_Intron|MAX_ENST00000555667.1_Intron|MAX_ENST00000556443.1_Intron|MAX_ENST00000341653.2_Intron|MAX_ENST00000557746.1_Intron|MAX_ENST00000557277.1_Intron|MAX_ENST00000556979.1_Intron|MAX_ENST00000555932.1_Intron|RP11-840I19.3_ENST00000556127.1_RNA	p.K90R	NM_145114.1	NP_660089.1	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	4	438	-			0			Leucine-zipper.		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	ENST00000358664.4	37	c.269A>G	CCDS9771.1	.	.	.	.	.	.	.	.	.	.	T	6.347	0.432099	0.12045	.	.	ENSG00000125952	ENST00000246163	D	0.95788	-3.81	4.22	-8.44	0.00950	.	.	.	.	.	D	0.83538	0.5276	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.75328	-0.3356	8	0.08381	T	0.77	.	4.0613	0.09839	0.2273:0.4787:0.1156:0.1784	.	90	Q96CY8	.	R	90	ENSP00000246163:K90R	ENSP00000246163:K90R	K	-	2	0	MAX	64620673	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.761000	0.01805	-2.332000	0.00632	-0.301000	0.09380	AAG		0.388	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		28	53	0	0	0	1	0	28	53					C	65550920	T	C	65550920	1	2	435	0	1	0	0	0	0	0	0	0	9339	1609	56	4		4	MAX	14	65550920	Intron	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	133119	65550920	41798620	6273	27198											
GPHN	10243	broad.mit.edu	37	chr14	67578599	67578599	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactgaagaacttgaagtgCgaattctggtgcaagctcgg	11	9	13	8	2	1	3	0	2	1	1	2	4	1	3	0	2	4	3	0	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:67578599C>T	ENST00000315266.5	+	14	2457	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	GPHN_ENST00000305960.9_Nonsense_Mutation_p.R415*|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000478722.1_Nonsense_Mutation_p.R479*|GPHN_ENST00000543237.1_Nonsense_Mutation_p.R492*	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	446	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)	p.R479*(3)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		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)		ACTTGAAGTGCGAATTCTGGT	0.383			T	MLL	AL																																	ENST00000478722.1				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		3	Substitution - Nonsense(3)	p.R479*(3)	large_intestine(2)|endometrium(1)	large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(1435-1437)Cga>Tga		gephyrin							80	84	83					14																	67578599		2203	4300	6503	SO:0001587	stop_gained	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67578599C>T	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1336C>T	14.37:g.67578599C>T	ENSP00000312771:p.Arg446*					GPHN_ENST00000315266.5_Nonsense_Mutation_p.R446*|GPHN_ENST00000305960.9_Nonsense_Mutation_p.R415*|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Nonsense_Mutation_p.R492*	p.R479*	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN		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)	15	2556	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	446			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Nonsense_Mutation	SNP	ENST00000315266.5	37	c.1435C>T	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	C	39	7.860533	0.98531	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960	.	.	.	5.07	4.17	0.49024	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3156	14.435	0.67274	0.1489:0.8511:0.0:0.0	.	.	.	.	X	446;479;492;415	.	ENSP00000303019:R415X	R	+	1	2	GPHN	66648352	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.070000	0.71220	1.089000	0.41292	0.655000	0.94253	CGA		0.383	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		23	31	0	0	0	1	0	23	31					T	67578599	C	T	67578599	4	4	435	1	0	0	0	0	0	1	0	0	6610	760	27	1	1493	1	GPHN	14	67578599	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2027679	67578599	39770941	6274	27199											
PLEK2	26499	broad.mit.edu	37	chr14	67854066	67854066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgttagctttttgatagCttcaatccactcggctcgct	7	16	7	11	2	2	1	2	1	0	0	5	1	3	1	1	1	2	5	1	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:67854066C>T	ENST00000216446.4	-	9	1182	c.1042G>A	c.(1042-1044)Gct>Act	p.A348T		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	348	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		TTTTTGATAGCTTCAATCCAC	0.478																																						ENST00000216446.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15						c.(1042-1044)Gct>Act		pleckstrin 2							239	206	217					14																	67854066		2203	4300	6503	SO:0001583	missense	26499				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane		g.chr14:67854066C>T	AF228603	CCDS9782.1	14q23.3	2014-08-12			ENSG00000100558	ENSG00000100558		"Pleckstrin homology (PH) domain containing"	19238	protein-coding gene	gene with protein product		608007				11911883, 17658464	Standard	NM_016445		Approved		uc001xjh.1	Q9NYT0	OTTHUMG00000171247	ENST00000216446.4:c.1042G>A	14.37:g.67854066C>T	ENSP00000216446:p.Ala348Thr						p.A348T	NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN		all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	9	1182	-			348			PH 2.		Q96JT0	Missense_Mutation	SNP	ENST00000216446.4	37	c.1042G>A	CCDS9782.1	.	.	.	.	.	.	.	.	.	.	C	35	5.583849	0.96578	.	.	ENSG00000100558	ENST00000216446	T	0.79247	-1.25	5.84	5.84	0.93424	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.90287	0.6962	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91422	0.5159	10	0.87932	D	0	-19.0563	18.3244	0.90248	0.0:1.0:0.0:0.0	.	348	Q9NYT0	PLEK2_HUMAN	T	348	ENSP00000216446:A348T	ENSP00000216446:A348T	A	-	1	0	PLEK2	66923819	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.630000	0.74272	2.768000	0.95171	0.650000	0.86243	GCT		0.478	PLEK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412547.2			40	56	0	0	0	1	0	40	56					T	67854066	C	T	67854066	3	4	435	1	0	0	0	0	1	0	0	0	12054	797	28	3	23	3	PLEK2	14	67854066	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	275467	67854066	39495474	6275	27200											
PLEKHH1	57475	broad.mit.edu	37	chr14	68036701	68036701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtctacaagaatgtcaCtgtgcctgtctacacagcac	10	10	8	13	0	3	1	1	0	2	1	3	1	3	1	2	1	4	1	2	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:68036701C>A	ENST00000329153.5	+	9	1538	c.1406C>A	c.(1405-1407)aCt>aAt	p.T469N		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	469						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AAGAATGTCACTGTGCCTGTC	0.542																																						ENST00000329153.5																			0				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19						c.(1405-1407)aCt>aAt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 1							110	106	107					14																	68036701		1953	4152	6105	SO:0001583	missense	57475					cytoskeleton	binding	g.chr14:68036701C>A	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.1406C>A	14.37:g.68036701C>A	ENSP00000330278:p.Thr469Asn						p.T469N	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	9	1538	+			469					A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	c.1406C>A	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075732	0.36662	.	.	ENSG00000054690	ENST00000329153	T	0.12147	2.71	4.76	3.79	0.43588	.	0.462493	0.24456	N	0.038368	T	0.17023	0.0409	M	0.61703	1.905	0.39496	D	0.968128	B	0.18310	0.027	B	0.15870	0.014	T	0.05649	-1.0872	10	0.38643	T	0.18	.	15.5244	0.75890	0.1474:0.8525:0.0:0.0	.	469	Q9ULM0	PKHH1_HUMAN	N	469	ENSP00000330278:T469N	ENSP00000330278:T469N	T	+	2	0	PLEKHH1	67106454	0.662000	0.27439	0.997000	0.53966	0.992000	0.81027	1.204000	0.32296	2.465000	0.83290	0.484000	0.47621	ACT		0.542	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		3	10	1	0	0.004672	1	0.00472505	3	10					A	68036701	C	A	68036701	3	1	435	1	0	0	0	0	1	0	0	0	12076	565	20	5	1436	5	PLEKHH1	14	68036701	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	182635	68036701	39312839	6276	27201											
ZFYVE26	23503	broad.mit.edu	37	chr14	68234491	68234491	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccaaaatccattccaccTcatctgctttggggactctc	9	12	6	14	0	3	0	1	0	2	0	7	2	6	1	4	2	1	1	4	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:68234491T>G	ENST00000347230.4	-	31	5858	c.5720A>C	c.(5719-5721)gAg>gCg	p.E1907A	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E1907A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1907					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCATTCCACCTCATCTGCTTT	0.433																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(5719-5721)gAg>gCg		zinc finger, FYVE domain containing 26							159	144	149					14																	68234491		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68234491T>G	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5720A>C	14.37:g.68234491T>G	ENSP00000251119:p.Glu1907Ala					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E1907A	p.E1907A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	31	5858	-			1907					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.5720A>C	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.185284	0.38609	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.28454	1.75;1.61	5.7	4.54	0.55810	.	0.243124	0.41396	D	0.000898	T	0.23572	0.0570	L	0.29908	0.895	0.35234	D	0.777218	B;B	0.16802	0.019;0.011	B;B	0.14578	0.011;0.005	T	0.13899	-1.0492	10	0.39692	T	0.17	-12.1661	12.7034	0.57046	0.0:0.0:0.2584:0.7416	.	1907;1907	G3V2D8;Q68DK2	.;ZFY26_HUMAN	A	1907;1886;1907	ENSP00000251119:E1907A;ENSP00000450603:E1907A	ENSP00000251119:E1907A	E	-	2	0	ZFYVE26	67304244	1.000000	0.71417	0.989000	0.46669	0.957000	0.61999	2.969000	0.49232	0.957000	0.37930	0.459000	0.35465	GAG		0.433	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		22	29	0	0	0	1	0	22	29					G	68234491	T	G	68234491	3	3	435	1	0	0	0	0	1	0	0	0	17665	1551	54	5	1947	5	ZFYVE26	14	68234491	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	197790	68234491	39115049	6277	27202											
RAD51L1	5890	broad.mit.edu	37	chr14	68301821	68301821	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggataaaagcacaaaggTctgctgatttctcaccagca	14	9	9	9	0	2	1	1	1	2	0	3	2	2	2	1	2	3	3	1	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:68301821T>C	ENST00000487270.1	+	4	271	c.223T>C	c.(223-225)Tct>Cct	p.S75P	RAD51B_ENST00000390683.3_Missense_Mutation_p.S75P|RAD51B_ENST00000471583.1_Missense_Mutation_p.S75P|RAD51B_ENST00000487861.1_Missense_Mutation_p.S75P|RAD51B_ENST00000488612.1_Missense_Mutation_p.S75P	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	75	Interaction with RAD51C.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGCACAAAGGTCTGCTGATTT	0.378								Direct reversal of damage																														ENST00000487270.1																		HMGA2/RAD51B(11)	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(223-225)Tct>Cct	Direct reversal of damage	RAD51 paralog B							108	104	106					14																	68301821		2203	4300	6503	SO:0001583	missense	5890				blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:68301821T>C	U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"RAD51 (S. cerevisiae)-like 1", "RAD51-like 1 (S. cerevisiae)", "RAD51 homolog B (S. cerevisiae)"	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.223T>C	14.37:g.68301821T>C	ENSP00000419471:p.Ser75Pro					RAD51B_ENST00000488612.1_Missense_Mutation_p.S75P|RAD51B_ENST00000487861.1_Missense_Mutation_p.S75P|RAD51B_ENST00000390683.3_Missense_Mutation_p.S75P|RAD51B_ENST00000471583.1_Missense_Mutation_p.S75P	p.S75P	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN			4	271	+			75					O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Missense_Mutation	SNP	ENST00000487270.1	37	c.223T>C	CCDS9789.1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.918427	0.33908	.	.	ENSG00000182185	ENST00000487861;ENST00000471583;ENST00000487270;ENST00000488612;ENST00000485181;ENST00000553334;ENST00000390683;ENST00000402498;ENST00000342389	T;T;T;T;T;T;T	0.57595	1.03;1.08;1.13;1.09;0.57;0.39;1.09	5.59	3.07	0.35406	DNA recombination and repair protein Rad51, C-terminal (1);	0.257041	0.31922	N	0.006853	T	0.51058	0.1652	M	0.75447	2.3	0.09310	N	0.999999	P;P;P;P;B;B	0.51653	0.947;0.845;0.528;0.662;0.36;0.131	P;B;B;B;B;B	0.44772	0.46;0.366;0.245;0.377;0.169;0.138	T	0.51996	-0.8634	10	0.66056	D	0.02	.	5.765	0.18221	0.2429:0.0:0.1485:0.6085	.	75;75;75;75;75;75	C9JYJ0;C9JSP9;O15315-4;O15315;O15315-1;O15315-2	.;.;.;RA51B_HUMAN;.;.	P	75	ENSP00000419881:S75P;ENSP00000418859:S75P;ENSP00000419471:S75P;ENSP00000420061:S75P;ENSP00000417948:S75P;ENSP00000452044:S75P;ENSP00000375101:S75P	ENSP00000343531:S75P	S	+	1	0	RAD51B	67371574	0.643000	0.27269	0.232000	0.24009	0.110000	0.19582	0.394000	0.20834	1.053000	0.40415	-0.385000	0.06624	TCT		0.378	RAD51B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349063.1			19	30	0	0	0	1	0	19	30					C	68301821	T	C	68301821	3	2	435	1	0	0	0	0	1	0	0	0	12989	1667	58	4	233	4	RAD51L1	14	68301821	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	67330	68301821	39047719	6278	27203											
ACTN1	87	broad.mit.edu	37	chr14	69341600	69341600	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtcactctcgccgtacagCgccgtggagaaggacatgta	10	7	13	11	4	2	1	1	0	1	1	3	3	2	2	2	3	2	2	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:69341600C>T	ENST00000193403.6	-	21	3038	c.2655G>A	c.(2653-2655)gcG>gcA	p.A885A	ACTN1_ENST00000376839.3_Silent_p.A815A|ACTN1_ENST00000394419.4_Silent_p.A907A|ACTN1_ENST00000438964.2_Silent_p.A880A|ACTN1_ENST00000538545.2_Silent_p.A923A	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	885					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGCCGTACAGCGCCGTGGAGA	0.687																																						ENST00000193403.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27						c.(2653-2655)gcG>gcA		actinin, alpha 1							48	46	47					14																	69341600		2203	4300	6503	SO:0001819	synonymous_variant	87				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	g.chr14:69341600C>T	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"EF-hand domain containing"	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.2655G>A	14.37:g.69341600C>T						ACTN1_ENST00000438964.2_Silent_p.A880A|ACTN1_ENST00000538545.2_Silent_p.A923A|ACTN1_ENST00000394419.4_Silent_p.A907A|ACTN1_ENST00000376839.3_Silent_p.A815A	p.A885A	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	21	3038	-			885					B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Silent	SNP	ENST00000193403.6	37	c.2655G>A	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	C	9.923	1.212743	0.22289	.	.	ENSG00000072110	ENST00000555075	.	.	.	5.0	-1.59	0.08453	.	.	.	.	.	T	0.53465	0.1798	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48736	-0.9009	4	.	.	.	.	8.2162	0.31514	0.0:0.5418:0.1517:0.3066	.	.	.	.	H	244	.	.	R	-	2	0	ACTN1	68411353	0.004000	0.15560	0.996000	0.52242	0.981000	0.71138	-1.300000	0.02751	-0.101000	0.12219	-0.961000	0.02630	CGC		0.687	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		13	23	0	0	0	1	0	13	23					T	69341600	C	T	69341600	2	4	435	1	0	0	0	0	0	0	0	1	204	755	27	1		1	ACTN1	14	69341600	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1039779	69341600	38007940	6279	27204											
ACTN1	87	broad.mit.edu	37	chr14	69345205	69345205	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatggagatcaggcaggcGcggaaatcatccgtgtccat	10	7	12	12	3	2	1	2	0	0	1	4	3	4	2	3	4	0	1	3	4	1	0	rs374748072		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:69345205G>A	ENST00000193403.6	-	19	2745				ACTN1_ENST00000376839.3_Silent_p.R707R|ACTN1_ENST00000394419.4_Silent_p.R799R|ACTN1_ENST00000438964.2_Silent_p.R772R|ACTN1_ENST00000538545.2_Silent_p.R772R	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1						actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCAGGCAGGCGCGGAAATCAT	0.602																																						ENST00000394419.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27						c.(2395-2397)cgC>cgT		actinin, alpha 1		G	,,	0,3136		0,0,1568	49	46	47		,2397,2316	-0.2	1	14		47	1,7163		0,1,3581	no	intron,coding-synonymous,coding-synonymous	ACTN1	NM_001102.3,NM_001130004.1,NM_001130005.1	,,	0,1,5149	AA,AG,GG		0.014,0.0,0.0097	,,	,799/915,772/888	69345205	1,10299	1568	3582	5150	SO:0001627	intron_variant	87				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	g.chr14:69345205G>A	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"EF-hand domain containing"	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.2361+500C>T	14.37:g.69345205G>A						ACTN1_ENST00000438964.2_Silent_p.R772R|ACTN1_ENST00000193403.6_Intron|ACTN1_ENST00000538545.2_Silent_p.R772R|ACTN1_ENST00000376839.3_Silent_p.R707R	p.R799R	NM_001130004.1	NP_001123476.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	20	2579	-			787			EF-hand 2.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Silent	SNP	ENST00000193403.6	37	c.2397C>T	CCDS9792.1																																																																																				0.602	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		12	48	0	0	0	1	0	12	48					A	69345205	G	A	69345205	1	1	435	0	1	0	0	0	0	0	0	0	204	1074	38	1		1	ACTN1	14	69345205	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3605	69345205	38004335	6280	27205											
DCAF5	8816	broad.mit.edu	37	chr14	69558433	69558433	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcttttcatggtgcaTgagttgaagtaaccctgatt	10	13	10	8	0	1	3	1	3	0	0	1	3	1	3	1	1	4	5	1	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:69558433T>C	ENST00000341516.5	-	6	984	c.837A>G	c.(835-837)tcA>tcG	p.S279S	DCAF5_ENST00000389997.6_Silent_p.S279S|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000554215.1_Silent_p.S197S|DCAF5_ENST00000557386.1_Silent_p.S278S|DCAF5_ENST00000556847.1_Silent_p.S197S	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	279					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TCATGGTGCATGAGTTGAAGT	0.507																																						ENST00000341516.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(835-837)tcA>tcG		DDB1 and CUL4 associated factor 5							99	96	97					14																	69558433		2203	4300	6503	SO:0001819	synonymous_variant	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69558433T>C	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.837A>G	14.37:g.69558433T>C						DCAF5_ENST00000554215.1_Silent_p.S197S|DCAF5_ENST00000557386.1_Silent_p.S278S|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000556847.1_Silent_p.S197S|DCAF5_ENST00000389997.6_Silent_p.S279S	p.S279S	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN			6	984	-			279					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Silent	SNP	ENST00000341516.5	37	c.837A>G	CCDS32106.1																																																																																				0.507	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		25	40	0	0	0	1	0	25	40					C	69558433	T	C	69558433	2	2	435	1	0	0	0	0	0	0	0	1	4273	1451	51	4		4	DCAF5	14	69558433	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	213228	69558433	37791107	6281	27206											
EXD2	55218	broad.mit.edu	37	chr14	69704572	69704572	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgaaaggaggagctgctgCaagcactcagagagttttat	13	8	13	7	1	1	1	1	0	0	1	1	5	1	3	0	2	5	5	0	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:69704572C>T	ENST00000409018.3	+	8	1701	c.1573C>T	c.(1573-1575)Caa>Taa	p.Q525*	EXD2_ENST00000409014.1_Nonsense_Mutation_p.Q400*|EXD2_ENST00000409242.1_Nonsense_Mutation_p.Q400*|EXD2_ENST00000312994.5_Nonsense_Mutation_p.Q525*|EXD2_ENST00000409949.1_Nonsense_Mutation_p.Q400*|EXD2_ENST00000492815.1_3'UTR|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000449989.1_Nonsense_Mutation_p.Q400*|EXD2_ENST00000409675.1_Nonsense_Mutation_p.Q400*	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	525							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GGAGCTGCTGCAAGCACTCAG	0.587																																						ENST00000409014.1																			0				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(1198-1200)Caa>Taa		exonuclease 3'-5' domain containing 2							26	29	28					14																	69704572		2203	4300	6503	SO:0001587	stop_gained	0				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69704572C>T	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1573C>T	14.37:g.69704572C>T	ENSP00000387331:p.Gln525*					EXD2_ENST00000409675.1_Nonsense_Mutation_p.Q400*|EXD2_ENST00000409018.3_Nonsense_Mutation_p.Q525*|EXD2_ENST00000409242.1_Nonsense_Mutation_p.Q400*|EXD2_ENST00000312994.5_Nonsense_Mutation_p.Q525*|EXD2_ENST00000409949.1_Nonsense_Mutation_p.Q400*|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Nonsense_Mutation_p.Q400*	p.Q400*	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN			10	1855	+			400					B4DIH6|G5E947|Q6AWB6|Q8N3D3	Nonsense_Mutation	SNP	ENST00000409018.3	37	c.1198C>T	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534109	0.85812	.	.	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	.	.	.	5.51	4.61	0.57282	.	0.811875	0.12233	N	0.487249	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-0.0376	11.4275	0.50020	0.1419:0.7218:0.1364:0.0	.	.	.	.	X	525;400;400;400;400;525;400	.	ENSP00000313140:Q525X	Q	+	1	0	EXD2	68774325	0.976000	0.34144	0.985000	0.45067	0.657000	0.38888	1.845000	0.39279	1.546000	0.49388	-0.312000	0.09012	CAA		0.587	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			8	5	0	0	0	1	0	8	5					T	69704572	C	T	69704572	4	4	435	1	0	0	0	0	0	1	0	0	5298	711	25	3	1220	3	EXD2	14	69704572	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	146139	69704572	37644968	6282	27207											
GALNTL1	57452	broad.mit.edu	37	chr14	69800217	69800217	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctccttgctcccaggacGcctgtcatagctggaggaat	7	10	10	14	1	2	0	1	0	1	0	4	3	3	3	4	3	2	2	4	3	2	2	rs376007601		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:69800217G>A	ENST00000337827.4	+	9	1194	c.867G>A	c.(865-867)acG>acA	p.T289T	GALNT16_ENST00000448469.3_Silent_p.T289T|GALNT16_ENST00000553669.1_Silent_p.T289T	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	289	Catalytic subdomain B.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CTCCCAGGACGCCTGTCATAG	0.547																																						ENST00000337827.4																			0											c.(865-867)acG>acA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16		G	,	1,4405	2.1+/-5.4	0,1,2202	92	79	83		867,867	-9.2	0.5	14		83	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GALNTL1	NM_001168368.1,NM_020692.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	289/559,289/559	69800217	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57452							g.chr14:69800217G>A	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23233	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 16"	615132	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.867G>A	14.37:g.69800217G>A						GALNT16_ENST00000448469.3_Silent_p.T289T|GALNT16_ENST00000553669.1_Silent_p.T289T	p.T289T	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2					9	1194	+								Q4KMG3|Q58A55|Q9ULT9	Silent	SNP	ENST00000337827.4	37	c.867G>A	CCDS32107.1																																																																																				0.547	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		20	41	0	0	0	1	0	20	41					A	69800217	G	A	69800217	2	1	435	1	0	0	0	0	0	0	0	1	6221	1074	38	1		1	GALNTL1	14	69800217	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	95645	69800217	37549323	6283	27208											
SLC39A9	55334	broad.mit.edu	37	chr14	69921597	69921597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccagttaattgtgtttgtgGcaatcatgctacataaggta	11	15	9	6	0	1	0	1	0	0	0	2	0	2	0	1	2	2	5	1	2	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:69921597G>A	ENST00000336643.5	+	5	1219	c.541G>A	c.(541-543)Gca>Aca	p.A181T	SLC39A9_ENST00000556605.1_Missense_Mutation_p.A181T|SLC39A9_ENST00000031146.4_Missense_Mutation_p.A115T|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Missense_Mutation_p.A158T	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	181					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TGTGTTTGTGGCAATCATGCT	0.363																																						ENST00000031146.4																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(343-345)Gca>Aca		solute carrier family 39, member 9							264	214	231					14																	69921597		2203	4300	6503	SO:0001583	missense	55334				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr14:69921597G>A		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"Solute carriers"	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.541G>A	14.37:g.69921597G>A	ENSP00000336887:p.Ala181Thr					SLC39A9_ENST00000557046.1_Missense_Mutation_p.A158T|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000336643.5_Missense_Mutation_p.A181T|SLC39A9_ENST00000556605.1_Missense_Mutation_p.A181T	p.A115T			Q9NUM3	S39A9_HUMAN		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	4	1021	+			181					G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	37	c.343G>A	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081464	0.94050	.	.	ENSG00000029364	ENST00000556605;ENST00000336643;ENST00000557046	T;T;T	0.68331	-0.32;-0.32;-0.32	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.82884	0.5134	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.83289	-0.0034	10	0.37606	T	0.19	-7.5591	18.044	0.89327	0.0:0.0:1.0:0.0	.	158;181;181	Q9NUM3-2;G3V5J8;Q9NUM3	.;.;S39A9_HUMAN	T	181;181;158	ENSP00000452385:A181T;ENSP00000336887:A181T;ENSP00000451833:A158T	ENSP00000031146:A181T	A	+	1	0	SLC39A9	68991350	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.329000	0.79093	0.491000	0.48974	GCA		0.363	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		5	70	0	0	0	1	0	5	70					A	69921597	G	A	69921597	3	1	435	1	0	0	0	0	1	0	0	0	14625	1203	42	3	559	3	SLC39A9	14	69921597	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	121380	69921597	37427943	6284	27209											
SMOC1	64093	broad.mit.edu	37	chr14	70477533	70477533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggcccagcagaatcccCgtgagggtattgtcatccct	10	8	11	12	1	1	3	1	1	0	2	3	3	3	3	4	2	1	2	4	2	3	2	rs369126124		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:70477533C>T	ENST00000381280.4	+	8	980	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	SMOC1_ENST00000361956.3_Missense_Mutation_p.R243C	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	243	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GCAGAATCCCCGTGAGGGTAT	0.562																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(727-729)Cgt>Tgt		SPARC related modular calcium binding 1		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	112	118	116		727,727	4.6	0.9	14		116	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SMOC1	NM_001034852.2,NM_022137.5	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	243/436,243/435	70477533	1,13005	2203	4300	6503	SO:0001583	missense	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70477533C>T	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.727C>T	14.37:g.70477533C>T	ENSP00000370680:p.Arg243Cys					SMOC1_ENST00000361956.3_Missense_Mutation_p.R243C	p.R243C	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	8	980	+			243			Thyroglobulin type-1 2.		A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	c.727C>T	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633910	0.47049	0.0	1.16E-4	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.64085	-0.08;-0.08	5.47	4.56	0.56223	Thyroglobulin type-1 (3);	0.112937	0.64402	D	0.000007	T	0.75627	0.3875	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.928	T	0.77627	-0.2517	10	0.56958	D	0.05	-12.2477	13.4905	0.61393	0.2845:0.7154:0.0:0.0	.	243;243	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	C	243	ENSP00000355110:R243C;ENSP00000370680:R243C	ENSP00000355110:R243C	R	+	1	0	SMOC1	69547286	0.980000	0.34600	0.883000	0.34634	0.184000	0.23303	2.398000	0.44486	1.401000	0.46761	0.557000	0.71058	CGT		0.562	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			17	23	0	0	0	1	0	17	23					T	70477533	C	T	70477533	3	4	435	1	0	0	0	0	1	0	0	0	14801	652	23	2	757	2	SMOC1	14	70477533	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	555936	70477533	36872007	6285	27210											
ADAM20	8748	broad.mit.edu	37	chr14	70990158	70990158	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagccccaggatgtagagtAcagtttaacagacaacaggg	14	6	12	9	0	0	2	0	0	0	2	0	3	0	3	2	2	4	4	2	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:70990158A>G	ENST00000256389.3	-	2	1711	c.1467T>C	c.(1465-1467)tgT>tgC	p.C489C	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	439	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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)		GATGTAGAGTACAGTTTAACA	0.443																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(1465-1467)tgT>tgC		ADAM metallopeptidase domain 20							133	132	132					14																	70990158		2203	4300	6503	SO:0001819	synonymous_variant	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70990158A>G	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"ADAM metallopeptidase domain containing"	199	protein-coding gene	gene with protein product		603712	"a disintegrin and metalloproteinase domain 20"			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1467T>C	14.37:g.70990158A>G						RP11-486O13.4_ENST00000556646.1_lincRNA	p.C489C	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	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)	2	1711	-			439			Disintegrin.		Q6GTZ1|Q9UKJ9	Silent	SNP	ENST00000256389.3	37	c.1467T>C	CCDS32111.1																																																																																				0.443	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			33	58	0	0	0	1	0	33	58					G	70990158	A	G	70990158	2	3	435	1	0	0	0	0	0	0	0	1	242	389	14	4		4	ADAM20	14	70990158	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	512625	70990158	36359382	6286	27211											
ADAM20	8748	broad.mit.edu	37	chr14	70991496	70991496	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgaagctgtcattatggagCcatctgtctagagcagaaga	13	10	11	7	0	3	4	1	1	2	3	3	5	3	5	1	1	3	2	1	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:70991496C>T	ENST00000256389.3	-	2	373	c.129G>A	c.(127-129)tgG>tgA	p.W43*	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	0					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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)		CATTATGGAGCCATCTGTCTA	0.527																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(127-129)tgG>tgA		ADAM metallopeptidase domain 20							166	123	138					14																	70991496		2203	4300	6503	SO:0001587	stop_gained	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991496C>T	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"ADAM metallopeptidase domain containing"	199	protein-coding gene	gene with protein product		603712	"a disintegrin and metalloproteinase domain 20"			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.129G>A	14.37:g.70991496C>T	ENSP00000256389:p.Trp43*					RP11-486O13.4_ENST00000556646.1_lincRNA	p.W43*	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	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)	2	373	-			0					Q6GTZ1|Q9UKJ9	Nonsense_Mutation	SNP	ENST00000256389.3	37	c.129G>A	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747066	0.69418	.	.	ENSG00000134007	ENST00000256389	.	.	.	4.04	1.07	0.20283	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.5696	0.04791	0.1503:0.534:0.146:0.1697	.	.	.	.	X	43	.	ENSP00000256389:W43X	W	-	3	0	ADAM20	70061249	0.005000	0.15991	0.007000	0.13788	0.069000	0.16628	0.488000	0.22371	0.097000	0.17492	0.650000	0.86243	TGG		0.527	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			4	74	0	0	0	1	0	4	74					T	70991496	C	T	70991496	4	4	435	1	0	0	0	0	0	1	0	0	242	740	26	3	2205	3	ADAM20	14	70991496	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1338	70991496	36358044	6287	27212											
ADAM20	8748	broad.mit.edu	37	chr14	70991600	70991600	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttagggatctggggatCtgtgtcctggtggagctgga	6	12	16	7	0	2	0	0	0	2	0	3	4	3	4	2	6	1	1	2	6	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:70991600C>A	ENST00000256389.3	-	2	269	c.25G>T	c.(25-27)Gat>Tat	p.D9Y	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	0					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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)		ATCTGGGGATCTGTGTCCTGG	0.537																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(25-27)Gat>Tat		ADAM metallopeptidase domain 20							135	113	120					14																	70991600		2202	4296	6498	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991600C>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"ADAM metallopeptidase domain containing"	199	protein-coding gene	gene with protein product		603712	"a disintegrin and metalloproteinase domain 20"			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.25G>T	14.37:g.70991600C>A	ENSP00000256389:p.Asp9Tyr					RP11-486O13.4_ENST00000556646.1_lincRNA	p.D9Y	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	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)	2	269	-			0					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.25G>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537334	0.45176	.	.	ENSG00000134007	ENST00000256389	T	0.01084	5.36	3.3	1.43	0.22495	.	.	.	.	.	T	0.01523	0.0049	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.49214	-0.8963	6	0.54805	T	0.06	.	4.9472	0.13994	0.0:0.7157:0.0:0.2843	.	.	.	.	Y	9	ENSP00000256389:D9Y	ENSP00000256389:D9Y	D	-	1	0	ADAM20	70061353	0.000000	0.05858	0.705000	0.30386	0.159000	0.22180	0.112000	0.15479	0.723000	0.32274	0.632000	0.83419	GAT		0.537	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			46	50	1	0	3.21987e-24	1	3.59154e-24	46	50					A	70991600	C	A	70991600	3	1	435	1	0	0	0	0	1	0	0	0	242	913	32	5	2309	5	ADAM20	14	70991600	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	104	70991600	36357940	6288	27213											
MAP3K9	4293	broad.mit.edu	37	chr14	71197290	71197290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggccgctcctctacagtgCtgctactgctagcaaagcag	9	8	10	14	1	1	0	0	0	1	0	2	0	2	0	2	1	7	6	2	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:71197290C>T	ENST00000554752.2	-	12	3121	c.3122G>A	c.(3121-3123)aGc>aAc	p.S1041N	MAP3K9_ENST00000553414.1_Missense_Mutation_p.S774N|MAP3K9_ENST00000555993.2_Missense_Mutation_p.S1055N|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S769N|MAP3K9_ENST00000381250.4_Missense_Mutation_p.S1018N	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	1041	Ser-rich.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTCTACAGTGCTGCTACTGCT	0.662																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(3121-3123)aGc>aAc		mitogen-activated protein kinase kinase kinase 9							49	46	47					14																	71197290		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71197290C>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.3122G>A	14.37:g.71197290C>T	ENSP00000451612:p.Ser1041Asn					MAP3K9_ENST00000555993.2_Missense_Mutation_p.S1055N|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S769N|MAP3K9_ENST00000553414.1_Missense_Mutation_p.S774N|MAP3K9_ENST00000381250.4_Missense_Mutation_p.S1018N	p.S1041N			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	12	3121	-			1041			Ser-rich.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.3122G>A		.	.	.	.	.	.	.	.	.	.	C	15.33	2.802957	0.50315	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.74842	-0.88;-0.83;-0.87;-0.82	4.84	4.84	0.62591	.	0.224065	0.49305	D	0.000142	T	0.64000	0.2559	N	0.22421	0.69	0.40259	D	0.97815	B;B;B;P	0.49862	0.2;0.027;0.2;0.929	B;B;B;B	0.42827	0.051;0.014;0.051;0.399	T	0.63883	-0.6536	10	0.22706	T	0.39	.	18.1285	0.89593	0.0:1.0:0.0:0.0	.	769;1041;1055;774	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	N	1041;1055;774;1018;769;757	ENSP00000451612:S1041N;ENSP00000451038:S774N;ENSP00000370649:S1018N;ENSP00000451921:S769N	ENSP00000005198:S1055N	S	-	2	0	MAP3K9	70267043	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.020000	0.57189	2.524000	0.85096	0.655000	0.94253	AGC		0.662	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			16	33	0	0	0	1	0	16	33					T	71197290	C	T	71197290	3	4	435	1	0	0	0	0	1	0	0	0	9257	797	28	3	196	3	MAP3K9	14	71197290	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	205690	71197290	36152250	6289	27214											
MAP3K9	4293	broad.mit.edu	37	chr14	71267462	71267462	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcatccctctggcaatctGcacagcccaattcaccagga	10	9	7	15	0	4	0	2	0	2	0	5	1	5	1	3	2	2	3	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:71267462G>A	ENST00000554752.2	-	2	741	c.742C>T	c.(742-744)Cag>Tag	p.Q248*	MAP3K9_ENST00000555993.2_Nonsense_Mutation_p.Q248*|MAP3K9_ENST00000381250.4_Nonsense_Mutation_p.Q248*	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTGGCAATCTGCACAGCCCAA	0.493																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(742-744)Cag>Tag		mitogen-activated protein kinase kinase kinase 9							114	103	107					14																	71267462		2203	4300	6503	SO:0001587	stop_gained	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71267462G>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.742C>T	14.37:g.71267462G>A	ENSP00000451612:p.Gln248*					MAP3K9_ENST00000555993.2_Nonsense_Mutation_p.Q248*|MAP3K9_ENST00000381250.4_Nonsense_Mutation_p.Q248*	p.Q248*			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	2	741	-			248			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Nonsense_Mutation	SNP	ENST00000554752.2	37	c.742C>T		.	.	.	.	.	.	.	.	.	.	G	41	9.152282	0.99082	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	.	.	.	X	248	.	ENSP00000005198:Q248X	Q	-	1	0	MAP3K9	70337215	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.703000	0.98714	2.814000	0.96858	0.655000	0.94253	CAG		0.493	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			41	47	0	0	0	1	0	41	47					A	71267462	G	A	71267462	4	1	435	1	0	0	0	0	0	1	0	0	9257	1328	46	3	2662	3	MAP3K9	14	71267462	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	70172	71267462	36082078	6290	27215											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055848	72055848	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccatattttcggaatgAgataggtggagaaggggaga	12	10	15	4	1	0	3	0	1	0	3	2	7	1	4	1	5	0	0	1	5	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:72055848A>G	ENST00000555818.1	+	2	1607	c.1259A>G	c.(1258-1260)gAg>gGg	p.E420G	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E420G|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E420G	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	420					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			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)		TTTCGGAATGAGATAGGTGGA	0.458																																						ENST00000555818.1																			0				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						c.(1258-1260)gAg>gGg		signal-induced proliferation-associated 1 like 1							104	102	103					14																	72055848		2203	4300	6503	SO:0001583	missense	26037				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	g.chr14:72055848A>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1259A>G	14.37:g.72055848A>G	ENSP00000450832:p.Glu420Gly					SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E420G|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E420G	p.E420G	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1607	+			420					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.1259A>G	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.077389	0.76415	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	D;D;D	0.94138	-3.36;-3.31;-3.36	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.97228	0.9094	M	0.88906	2.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	0.999;1.0;0.979	D	0.97878	1.0290	10	0.87932	D	0	-33.2649	16.6406	0.85098	1.0:0.0:0.0:0.0	.	420;420;420	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	G	420	ENSP00000370630:E420G;ENSP00000450832:E420G;ENSP00000351352:E420G	ENSP00000351352:E420G	E	+	2	0	SIPA1L1	71125601	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.339000	0.96797	2.326000	0.78906	0.533000	0.62120	GAG		0.458	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		14	22	0	0	0	1	0	14	22					G	72055848	A	G	72055848	3	3	435	1	0	0	0	0	1	0	0	0	14329	304	11	4	1261	4	SIPA1L1	14	72055848	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	788386	72055848	35293692	6291	27216											
SIPA1L1	26037	broad.mit.edu	37	chr14	72138254	72138254	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtgctcattgaacaggaaAcaaagagcgtggtcttcaat	13	11	10	7	1	3	2	2	1	1	1	3	3	3	3	0	2	4	1	0	2	4	3	rs201806112		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:72138254A>G	ENST00000555818.1	+	8	3022	c.2674A>G	c.(2674-2676)Aca>Gca	p.T892A	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.T892A|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.T892A|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.T367A	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	892					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			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)		TGAACAGGAAACAAAGAGCGT	0.453													A|||	1	0.000199681	8e-04	0	5008	,	,		19676	0		0	False		,,,				2504	0					ENST00000555818.1																			0				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						c.(2674-2676)Aca>Gca		signal-induced proliferation-associated 1 like 1							131	126	128					14																	72138254		2203	4300	6503	SO:0001583	missense	26037				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	g.chr14:72138254A>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2674A>G	14.37:g.72138254A>G	ENSP00000450832:p.Thr892Ala					SIPA1L1_ENST00000358550.2_Missense_Mutation_p.T892A|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.T892A|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.T367A	p.T892A	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	8	3022	+			892					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.2674A>G	CCDS9807.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	11.48	1.650539	0.29336	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;D	0.84730	-1.07;-1.06;-1.07;-1.89	6.16	6.16	0.99307	.	0.042714	0.85682	D	0.000000	T	0.76256	0.3962	N	0.16833	0.445	0.49582	D	0.999803	B;B;B;B;B	0.28880	0.042;0.226;0.093;0.069;0.008	B;B;B;B;B	0.27796	0.035;0.083;0.047;0.029;0.005	T	0.73072	-0.4098	10	0.32370	T	0.25	-20.9446	16.8061	0.85666	1.0:0.0:0.0:0.0	.	367;892;367;892;892	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	A	892;892;892;367	ENSP00000370630:T892A;ENSP00000450832:T892A;ENSP00000351352:T892A;ENSP00000440682:T367A	ENSP00000351352:T892A	T	+	1	0	SIPA1L1	71208007	1.000000	0.71417	0.997000	0.53966	0.310000	0.27922	7.442000	0.80503	2.367000	0.80283	0.528000	0.53228	ACA		0.453	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		31	56	0	0	0	1	0	31	56					G	72138254	A	G	72138254	3	3	435	1	0	0	0	0	1	0	0	0	14329	43	2	4	2700	4	SIPA1L1	14	72138254	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	82406	72138254	35211286	6292	27217											
SIPA1L1	26037	broad.mit.edu	37	chr14	72139213	72139213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctgaggcagggcagtcGcctggtggagatctgcaagg	8	6	19	8	1	1	2	0	1	1	1	2	3	1	2	1	6	1	4	1	6	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:72139213G>A	ENST00000555818.1	+	9	3326	c.2978G>A	c.(2977-2979)cGc>cAc	p.R993H	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R993H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R993H|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R468H	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	993	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			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)		CAGGGCAGTCGCCTGGTGGAG	0.582																																						ENST00000555818.1																			0				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						c.(2977-2979)cGc>cAc		signal-induced proliferation-associated 1 like 1							79	62	68					14																	72139213		2203	4300	6503	SO:0001583	missense	26037				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	g.chr14:72139213G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2978G>A	14.37:g.72139213G>A	ENSP00000450832:p.Arg993His					SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R993H|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R993H|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R468H	p.R993H	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	9	3326	+			993			PDZ.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.2978G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	33	5.250329	0.95305	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.95	5.95	0.96441	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.81635	0.4864	M	0.89414	3.03	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;0.996;1.0;1.0;0.987	D	0.83775	0.0222	10	0.87932	D	0	-21.6201	20.3931	0.98965	0.0:0.0:1.0:0.0	.	468;993;468;993;993	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	H	993;993;993;468	ENSP00000370630:R993H;ENSP00000450832:R993H;ENSP00000351352:R993H;ENSP00000440682:R468H	ENSP00000351352:R993H	R	+	2	0	SIPA1L1	71208966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	CGC		0.582	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		21	33	0	0	0	1	0	21	33					A	72139213	G	A	72139213	3	1	435	1	0	0	0	0	1	0	0	0	14329	1087	38	1	3008	1	SIPA1L1	14	72139213	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	959	72139213	35210327	6293	27218											
SIPA1L1	26037	broad.mit.edu	37	chr14	72152319	72152319	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacatccctcgaagcatCtccagtgacgggcgcccact	9	6	9	17	3	1	1	0	1	1	0	4	2	2	1	4	1	2	1	4	1	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:72152319C>A	ENST00000555818.1	+	10	3693	c.3345C>A	c.(3343-3345)atC>atA	p.I1115I	SIPA1L1_ENST00000381232.3_Silent_p.I1115I|SIPA1L1_ENST00000358550.2_Silent_p.I1115I|SIPA1L1_ENST00000537413.1_Silent_p.I590I	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1115					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			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)		CTCGAAGCATCTCCAGTGACG	0.552																																						ENST00000555818.1																			0				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						c.(3343-3345)atC>atA		signal-induced proliferation-associated 1 like 1							48	45	46					14																	72152319		2203	4300	6503	SO:0001819	synonymous_variant	26037				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	g.chr14:72152319C>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3345C>A	14.37:g.72152319C>A						SIPA1L1_ENST00000358550.2_Silent_p.I1115I|SIPA1L1_ENST00000381232.3_Silent_p.I1115I|SIPA1L1_ENST00000537413.1_Silent_p.I590I	p.I1115I	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	10	3693	+			1115					J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	c.3345C>A	CCDS9807.1																																																																																				0.552	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		14	22	1	0	1.99824e-07	1	2.09433e-07	14	22					A	72152319	C	A	72152319	2	1	435	1	0	0	0	0	0	0	0	1	14329	903	32	5		5	SIPA1L1	14	72152319	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13106	72152319	35197221	6294	27219											
SIPA1L1	26037	broad.mit.edu	37	chr14	72171492	72171492	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtcctcgagcagcatgAatatacaggtaaaatatttc	13	14	7	7	1	0	1	0	1	0	0	3	2	1	1	1	1	3	3	1	1	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:72171492A>T	ENST00000555818.1	+	13	4049	c.3701A>T	c.(3700-3702)gAa>gTa	p.E1234V	SIPA1L1_ENST00000381232.3_Intron|SIPA1L1_ENST00000358550.2_Intron|SIPA1L1_ENST00000554874.1_Intron|SIPA1L1_ENST00000537413.1_Intron	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1234					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			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)		GAGCAGCATGAATATACAGGT	0.398																																						ENST00000555818.1																			0				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						c.(3700-3702)gAa>gTa		signal-induced proliferation-associated 1 like 1							99	94	95					14																	72171492		2203	4300	6503	SO:0001583	missense	26037				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	g.chr14:72171492A>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3701A>T	14.37:g.72171492A>T	ENSP00000450832:p.Glu1234Val					SIPA1L1_ENST00000358550.2_Intron|SIPA1L1_ENST00000554874.1_Intron|SIPA1L1_ENST00000381232.3_Intron|SIPA1L1_ENST00000537413.1_Intron	p.E1234V	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	13	4049	+			1234					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.3701A>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683375	0.29872	.	.	ENSG00000197555	ENST00000555818	T	0.54479	0.57	5.73	5.73	0.89815	.	0.248445	0.32343	N	0.006227	T	0.42040	0.1185	L	0.43152	1.355	0.80722	D	1	P;P	0.48911	0.917;0.917	B;B	0.41135	0.348;0.348	T	0.31971	-0.9924	10	0.10377	T	0.69	-19.3194	12.4131	0.55478	1.0:0.0:0.0:0.0	.	1234;1234	A6H8W6;O43166	.;SI1L1_HUMAN	V	1234	ENSP00000450832:E1234V	ENSP00000351352:E1234V	E	+	2	0	SIPA1L1	71241245	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.143000	0.50608	2.185000	0.69588	0.460000	0.39030	GAA		0.398	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		12	41	0	0	0	1	0	12	41					T	72171492	A	T	72171492	3	4	435	1	0	0	0	0	1	0	0	0	14329	246	9	5	3747	5	SIPA1L1	14	72171492	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	19173	72171492	35178048	6295	27220											
RBM25	58517	broad.mit.edu	37	chr14	73572703	73572703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagagaaaaagacaaaaaaCgggaccgagaagaagatgaa	25	1	11	4	2	0	6	0	1	0	5	0	9	0	7	1	1	1	0	1	1	9	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:73572703C>T	ENST00000261973.7	+	11	1576	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	RBM25_ENST00000527432.1_Missense_Mutation_p.R431W	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	431	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agaCAAAAAACGGGACCGAGA	0.458																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1291-1293)Cgg>Tgg		RNA binding motif protein 25							173	188	183					14																	73572703		2203	4300	6503	SO:0001583	missense	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73572703C>T	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1291C>T	14.37:g.73572703C>T	ENSP00000261973:p.Arg431Trp					RBM25_ENST00000527432.1_Missense_Mutation_p.R431W	p.R431W	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	11	1576	+			431			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	c.1291C>T	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434159	0.62955	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.62639	0.01;0.01	5.61	1.91	0.25777	.	0.112091	0.64402	D	0.000013	T	0.75788	0.3897	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.78578	-0.2150	10	0.72032	D	0.01	.	14.5484	0.68050	0.7698:0.2302:0.0:0.0	.	431	P49756	RBM25_HUMAN	W	431	ENSP00000261973:R431W;ENSP00000431150:R431W	ENSP00000261973:R431W	R	+	1	2	RBM25	72642456	1.000000	0.71417	0.916000	0.36221	0.987000	0.75469	2.190000	0.42630	0.449000	0.26747	0.650000	0.86243	CGG		0.458	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		20	23	0	0	0	1	0	20	23					T	73572703	C	T	73572703	3	4	435	1	0	0	0	0	1	0	0	0	13125	527	19	1	1329	1	RBM25	14	73572703	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1401211	73572703	33776837	6296	27221											
PAPLN	89932	broad.mit.edu	37	chr14	73726174	73726174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgcagacacagtcctcacGggtgctgccccgatggccac	8	6	11	16	2	1	1	1	0	0	1	2	2	2	1	4	2	3	2	4	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:73726174G>A	ENST00000554301.1	+	15	2069	c.1906G>A	c.(1906-1908)Ggg>Agg	p.G636R	PAPLN_ENST00000555445.1_Missense_Mutation_p.G636R|PAPLN_ENST00000427855.1_Missense_Mutation_p.G636R|PAPLN_ENST00000340738.5_Missense_Mutation_p.G609R|PAPLN_ENST00000381166.3_Missense_Mutation_p.G636R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	636						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			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)		CAGTCCTCACGGGTGCTGCCC	0.697																																						ENST00000427855.1																			0				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						c.(1906-1908)Ggg>Agg		papilin, proteoglycan-like sulfated glycoprotein							15	18	17					14																	73726174		2200	4294	6494	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73726174G>A	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1906G>A	14.37:g.73726174G>A	ENSP00000451803:p.Gly636Arg					PAPLN_ENST00000381166.3_Missense_Mutation_p.G636R|PAPLN_ENST00000555445.1_Missense_Mutation_p.G636R|PAPLN_ENST00000554301.1_Missense_Mutation_p.G636R|PAPLN_ENST00000340738.5_Missense_Mutation_p.G609R	p.G636R			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	16	2008	+			636					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.1906G>A		.	.	.	.	.	.	.	.	.	.	G	19.40	3.820756	0.71028	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.74002	-0.8;-0.78;-0.38;-0.78;-0.41	4.45	4.45	0.53987	.	.	.	.	.	D	0.86096	0.5851	M	0.81614	2.55	0.48135	D	0.999597	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.88020	0.2768	9	0.66056	D	0.02	.	15.0406	0.71788	0.0:0.0:1.0:0.0	.	636;636;609	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	R	609;636;636;636;636	ENSP00000345395:G609R;ENSP00000403403:G636R;ENSP00000370558:G636R;ENSP00000451803:G636R;ENSP00000451729:G636R	ENSP00000216658:G636R	G	+	1	0	PAPLN	72795927	1.000000	0.71417	0.955000	0.39395	0.393000	0.30537	6.044000	0.71012	2.304000	0.77564	0.462000	0.41574	GGG		0.697	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		5	5	0	0	0	1	0	5	5					A	73726174	G	A	73726174	3	1	435	1	0	0	0	0	1	0	0	0	11428	1116	39	2	1879	2	PAPLN	14	73726174	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	153471	73726174	33623366	6297	27222											
HEATR4	399671	broad.mit.edu	37	chr14	73985771	73985771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacttttctggagtttcaGggaagaccttagatagctgc	9	13	10	9	0	2	2	1	0	1	2	3	4	3	4	2	2	2	2	2	2	3	5	rs141181710		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:73985771G>T	ENST00000553558.1	-	5	1487	c.1166C>A	c.(1165-1167)cCt>cAt	p.P389H	HEATR4_ENST00000560393.1_Missense_Mutation_p.P342H|RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000334988.2_Missense_Mutation_p.P389H	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	389										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TGGAGTTTCAGGGAAGACCTT	0.473																																						ENST00000553558.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1165-1167)cCt>cAt		HEAT repeat containing 4							154	138	143					14																	73985771		2203	4300	6503	SO:0001583	missense	399671							g.chr14:73985771G>T	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.1166C>A	14.37:g.73985771G>T	ENSP00000450444:p.Pro389His					HEATR4_ENST00000560393.1_Missense_Mutation_p.P342H|RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000334988.2_Missense_Mutation_p.P389H	p.P389H	NM_001220484.1	NP_001207413.1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	5	1487	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.1166C>A	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278397	0.80692	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.77620	-1.11	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000004	D	0.83308	0.5226	L	0.36672	1.1	0.39591	D	0.969585	D	0.89917	1.0	D	0.91635	0.999	D	0.85013	0.0907	10	0.87932	D	0	-15.2431	15.7964	0.78412	0.0:0.0:1.0:0.0	.	389	Q86WZ0	HEAT4_HUMAN	H	389;342	ENSP00000450444:P389H	ENSP00000335447:P342H	P	-	2	0	HEATR4	73055524	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.805000	0.62561	2.813000	0.96785	0.655000	0.94253	CCT		0.473	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		27	36	1	0	2.48779e-11	1	2.67617e-11	27	36					T	73985771	G	T	73985771	3	4	435	1	0	0	0	0	1	0	0	0	7030	1000	35	5	1970	5	HEATR4	14	73985771	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	259597	73985771	33363769	6298	27223											
HEATR4	399671	broad.mit.edu	37	chr14	73989701	73989701	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtgtagacggtactgtgaGctgaagaagaccataggcac	12	7	14	8	2	0	5	0	2	0	3	0	5	0	5	1	3	2	4	1	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:73989701G>A	ENST00000553558.1	-	3	477	c.156C>T	c.(154-156)agC>agT	p.S52S	HEATR4_ENST00000560393.1_Silent_p.S5S|RP3-414A15.2_ENST00000555972.2_RNA|RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000334988.2_Silent_p.S52S	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	52										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGTACTGTGAGCTGAAGAAGA	0.522																																						ENST00000553558.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(154-156)agC>agT		HEAT repeat containing 4							87	90	89					14																	73989701		2203	4300	6503	SO:0001819	synonymous_variant	399671							g.chr14:73989701G>A	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.156C>T	14.37:g.73989701G>A						HEATR4_ENST00000560393.1_Silent_p.S5S|RP3-414A15.2_ENST00000555972.2_RNA|HEATR4_ENST00000334988.2_Silent_p.S52S	p.S52S	NM_001220484.1	NP_001207413.1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	3	477	-								B7Z7V9|E9KL41	Silent	SNP	ENST00000553558.1	37	c.156C>T	CCDS9815.2																																																																																				0.522	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		11	61	0	0	0	1	0	11	61					A	73989701	G	A	73989701	2	1	435	1	0	0	0	0	0	0	0	1	7030	962	34	3		3	HEATR4	14	73989701	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3930	73989701	33359839	6299	27224											
PNMA1	9240	broad.mit.edu	37	chr14	74179676	74179676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcggcagtggttatcgCggggttgttggacttaagga	7	12	16	6	3	0	0	0	0	0	0	2	2	0	2	0	6	0	5	0	6	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:74179676C>T	ENST00000316836.3	-	1	1452	c.667G>A	c.(667-669)Gcg>Acg	p.A223T		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	223					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				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)		gtggttatcgcggggttgttg	0.532																																						ENST00000316836.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13						c.(667-669)Gcg>Acg		paraneoplastic Ma antigen 1							67	75	73					14																	74179676		2203	4300	6503	SO:0001583	missense	9240				apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding	g.chr14:74179676C>T	AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"Paraneoplastic Ma antigens"	9158	protein-coding gene	gene with protein product		604010	"paraneoplastic antigen MA1"			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.667G>A	14.37:g.74179676C>T	ENSP00000318914:p.Ala223Thr						p.A223T	NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)	1	1452	-			223					A8K4L5|O95144|Q8NG07	Missense_Mutation	SNP	ENST00000316836.3	37	c.667G>A	CCDS9818.1	.	.	.	.	.	.	.	.	.	.	C	7.923	0.738936	0.15642	.	.	ENSG00000176903	ENST00000316836	T	0.09630	2.96	4.27	2.34	0.29019	.	0.710357	0.12295	N	0.481667	T	0.05868	0.0153	N	0.17082	0.46	0.09310	N	1	P	0.35050	0.482	B	0.26693	0.072	T	0.36040	-0.9764	10	0.33940	T	0.23	-4.6852	9.1291	0.36835	0.3979:0.6021:0.0:0.0	.	223	Q8ND90	PNMA1_HUMAN	T	223	ENSP00000318914:A223T	ENSP00000318914:A223T	A	-	1	0	PNMA1	73249429	0.006000	0.16342	0.006000	0.13384	0.957000	0.61999	0.494000	0.22467	0.670000	0.31165	0.655000	0.94253	GCG		0.532	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1	NM_006029		41	64	0	0	0	1	0	41	64					T	74179676	C	T	74179676	3	4	435	1	0	0	0	0	1	0	0	0	12153	768	27	1	398	1	PNMA1	14	74179676	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	189975	74179676	33169864	6300	27225											
ZNF410	57862	broad.mit.edu	37	chr14	74371737	74371737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgagtctggctgtggtaaGcagtttactacagctggaaa	11	11	12	7	0	1	1	0	1	1	0	1	2	1	2	0	3	4	5	0	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:74371737G>T	ENST00000555044.1	+	7	1058	c.864G>T	c.(862-864)aaG>aaT	p.K288N	RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000442160.3_Missense_Mutation_p.K305N|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000334521.4_Missense_Mutation_p.K235N|Y_RNA_ENST00000362602.1_RNA|ZNF410_ENST00000324593.6_Missense_Mutation_p.K288N|RP5-1021I20.6_ENST00000602874.1_RNA|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000540593.1_Missense_Mutation_p.K215N	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GCTGTGGTAAGCAGTTTACTA	0.527																																						ENST00000555044.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(862-864)aaG>aaT		zinc finger protein 410							117	101	107					14																	74371737		2203	4300	6503	SO:0001583	missense	57862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:74371737G>T	U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"Zinc fingers, C2H2-type"	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.864G>T	14.37:g.74371737G>T	ENSP00000451763:p.Lys288Asn					ZNF410_ENST00000442160.3_Missense_Mutation_p.K305N|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000324593.6_Missense_Mutation_p.K288N|ZNF410_ENST00000540593.1_Missense_Mutation_p.K215N|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000334521.4_Missense_Mutation_p.K235N	p.K288N	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00369)	7	1058	+			288					B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	ENST00000555044.1	37	c.864G>T	CCDS9821.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.625872	0.66901	.	.	ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000554316	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	5.42	3.62	0.41486	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000353	T	0.57213	0.2038	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.997;0.999;1.0;0.999	D;D;D;D;D;D	0.87578	0.998;0.998;0.996;0.994;0.998;0.997	T	0.60131	-0.7323	10	0.66056	D	0.02	.	8.2751	0.31868	0.3139:0.0:0.6861:0.0	.	288;215;305;288;277;288	B2RCP6;B4DR78;B4DDV5;Q86VK4-3;B4DPE9;Q86VK4	.;.;.;.;.;ZN410_HUMAN	N	215;288;277;305;288;235;19	ENSP00000442228:K215N;ENSP00000323293:K288N;ENSP00000407130:K305N;ENSP00000451763:K288N;ENSP00000334170:K235N;ENSP00000451748:K19N	ENSP00000323293:K288N	K	+	3	2	ZNF410	73441490	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.056000	0.49923	0.866000	0.35629	-0.244000	0.11960	AAG		0.527	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188		18	51	1	0	1.01871e-10	1	1.09092e-10	18	51					T	74371737	G	T	74371737	3	4	435	1	0	0	0	0	1	0	0	0	17887	962	34	5	886	5	ZNF410	14	74371737	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	192061	74371737	32977803	6301	27226											
ALDH6A1	4329	broad.mit.edu	37	chr14	74534170	74534170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggactgctgttgaaagagCcatgcagcgctgaccagcag	12	6	13	10	1	0	3	0	2	0	1	0	4	0	4	2	1	5	5	2	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:74534170C>T	ENST00000553458.1	-	8	1053	c.955G>A	c.(955-957)Gct>Act	p.A319T	CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000555126.1_Missense_Mutation_p.A36T|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.A306T	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	319					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		GTTGAAAGAGCCATGCAGCGC	0.527																																						ENST00000553458.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.(955-957)Gct>Act		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						77	74	75					14																	74534170		2203	4300	6503	SO:0001583	missense	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74534170C>T	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"Aldehyde dehydrogenases"	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.955G>A	14.37:g.74534170C>T	ENSP00000450436:p.Ala319Thr					ALDH6A1_ENST00000350259.4_Missense_Mutation_p.A306T|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_Missense_Mutation_p.A36T	p.A319T	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	8	1053	-			319					B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	37	c.955G>A	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	C	33	5.279808	0.95489	.	.	ENSG00000119711	ENST00000553458;ENST00000350259;ENST00000555126	D;D;D	0.93426	-3.22;-3.22;-3.22	5.41	4.5	0.54988	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97932	0.9320	H	0.98199	4.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98380	1.0558	10	0.87932	D	0	.	14.7281	0.69360	0.0:0.9293:0.0:0.0707	.	306;319	B4DFS8;Q02252	.;MMSA_HUMAN	T	319;306;36	ENSP00000450436:A319T;ENSP00000342564:A306T;ENSP00000452081:A36T	ENSP00000342564:A319T	A	-	1	0	ALDH6A1	73603923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.914000	0.69964	2.814000	0.96858	0.591000	0.81541	GCT		0.527	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			34	57	0	0	0	1	0	34	57					T	74534170	C	T	74534170	3	4	435	1	0	0	0	0	1	0	0	0	503	739	26	3	672	3	ALDH6A1	14	74534170	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	162433	74534170	32815370	6302	27227											
ALDH6A1	4329	broad.mit.edu	37	chr14	74535652	74535652	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacaaagctgattgcttTgatgtccggatgatcgcaaa	11	11	9	10	2	0	3	0	3	0	0	3	4	2	4	2	1	2	3	2	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:74535652T>C	ENST00000553458.1	-	7	861	c.763A>G	c.(763-765)Aaa>Gaa	p.K255E	ALDH6A1_ENST00000556852.1_5'Flank|CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000555126.1_5'UTR|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.K242E	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	255					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		CTGATTGCTTTGATGTCCGGA	0.403																																						ENST00000553458.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.(763-765)Aaa>Gaa		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						80	76	77					14																	74535652		2203	4300	6503	SO:0001583	missense	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74535652T>C	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"Aldehyde dehydrogenases"	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.763A>G	14.37:g.74535652T>C	ENSP00000450436:p.Lys255Glu					ALDH6A1_ENST00000350259.4_Missense_Mutation_p.K242E|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_5'UTR	p.K255E	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	7	861	-			255					B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	37	c.763A>G	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.001544	0.93227	.	.	ENSG00000119711	ENST00000553458;ENST00000350259	D;D	0.91011	-2.77;-2.77	5.98	5.98	0.97165	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.093263	0.64402	D	0.000001	D	0.91878	0.7429	M	0.78801	2.425	0.80722	D	1	P;P	0.39809	0.689;0.466	P;P	0.44696	0.458;0.458	D	0.92342	0.5882	10	0.72032	D	0.01	.	12.3403	0.55091	0.0:0.0:0.1407:0.8593	.	242;255	B4DFS8;Q02252	.;MMSA_HUMAN	E	255;242	ENSP00000450436:K255E;ENSP00000342564:K242E	ENSP00000342564:K255E	K	-	1	0	ALDH6A1	73605405	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.188000	0.72045	2.288000	0.76882	0.528000	0.53228	AAA		0.403	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			7	42	0	0	0	1	0	7	42					C	74535652	T	C	74535652	3	2	435	1	0	0	0	0	1	0	0	0	503	1821	63	4	868	4	ALDH6A1	14	74535652	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1482	74535652	32813888	6303	27228											
C14orf115	55237	broad.mit.edu	37	chr14	74825075	74825075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccctttctgccgcttccGcctccgctaccccagcctgt	2	12	6	21	3	2	0	0	0	2	0	5	0	4	0	8	0	3	2	8	0	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:74825075G>A	ENST00000256362.4	+	2	1830	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	530					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TGCCGCTTCCGCCTCCGCTAC	0.652																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1588-1590)cGc>cAc		vertebrae development associated							70	72	71					14																	74825075		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74825075G>A	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1589G>A	14.37:g.74825075G>A	ENSP00000256362:p.Arg530His						p.R530H	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1830	+			530					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.1589G>A	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905678	0.72868	.	.	ENSG00000133980	ENST00000256362	T	0.52295	0.67	4.29	4.29	0.51040	.	0.165435	0.39687	U	0.001294	T	0.46014	0.1371	L	0.29908	0.895	0.34687	D	0.725303	D	0.76494	0.999	P	0.50490	0.642	T	0.62714	-0.6796	10	0.66056	D	0.02	-6.8816	15.095	0.72226	0.0:0.0:1.0:0.0	.	530	Q9H8Y1	VRTN_HUMAN	H	530	ENSP00000256362:R530H	ENSP00000256362:R530H	R	+	2	0	VRTN	73894828	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.546000	0.67243	2.211000	0.71520	0.491000	0.48974	CGC		0.652	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		62	84	0	0	0	1	0	62	84					A	74825075	G	A	74825075	3	1	435	1	0	0	0	0	1	0	0	0	1740	1087	38	1	1591	1	C14orf115	14	74825075	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	289423	74825075	32524465	6304	27229											
TMEM90A	646658	broad.mit.edu	37	chr14	74876313	74876313	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctccggcaggcccagcGccacctaggaggtaggagta	8	5	16	12	2	0	0	0	0	0	0	1	2	1	2	4	6	1	4	4	6	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:74876313G>A	ENST00000554823.1	-	1	196	c.135C>T	c.(133-135)ggC>ggT	p.G45G	SYNDIG1L_ENST00000331628.3_Silent_p.G45G			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	45					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CAGGCCCAGCGCCACCTAGGA	0.687																																						ENST00000331628.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						c.(133-135)ggC>ggT		synapse differentiation inducing 1-like							27	31	30					14																	74876313		1922	4132	6054	SO:0001819	synonymous_variant	646658				response to biotic stimulus	Golgi apparatus|integral to membrane		g.chr14:74876313G>A		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"caudate-and putamen-enriched sequence", "interferon induced transmembrane protein domain containing 4"	609999	"transmembrane protein 90A"	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.135C>T	14.37:g.74876313G>A						SYNDIG1L_ENST00000554823.1_Silent_p.G45G	p.G45G	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN			2	382	-			45						Silent	SNP	ENST00000554823.1	37	c.135C>T	CCDS41970.1																																																																																				0.687	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412341.1	XM_938515		13	14	0	0	0	1	0	13	14					A	74876313	G	A	74876313	2	1	435	1	0	0	0	0	0	0	0	1	16215	1074	38	1		1	TMEM90A	14	74876313	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	51238	74876313	32473227	6305	27230											
KIAA0317	9870	broad.mit.edu	37	chr14	75140771	75140771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactcggaaggtgtaaaggCgccaggggatgatcttcagg	11	7	15	8	2	2	1	1	1	1	0	3	3	2	3	1	6	0	1	1	6	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:75140771C>T	ENST00000356357.4	-	9	1639	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	375					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGTGTAAAGGCGCCAGGGGAT	0.438																																						ENST00000356357.4																			0											c.(1123-1125)cGc>cAc		apoptosis resistant E3 ubiquitin protein ligase 1							73	74	74					14																	75140771		1885	4125	6010	SO:0001583	missense	9870							g.chr14:75140771C>T	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"KIAA0317"	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1124G>A	14.37:g.75140771C>T	ENSP00000348714:p.Arg375His					AREL1_ENST00000557401.1_5'UTR	p.R375H	NM_001039479.1	NP_001034568.1					9	1639	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.1124G>A	CCDS41971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.271118|4.271118	0.80469|0.80469	.|.	.|.	ENSG00000119682|ENSG00000119682	ENST00000490805|ENST00000356357;ENST00000543377;ENST00000556202	.|T;T	.|0.53206	.|0.63;0.63	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.091942	.|0.85682	.|D	.|0.000000	T|T	0.63462|0.63462	0.2513|0.2513	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.994;1.0	.|P;D	.|0.65874	.|0.579;0.939	T|T	0.64681|0.64681	-0.6350|-0.6350	5|10	.|0.62326	.|D	.|0.03	.|.	16.9869|16.9869	0.86342|0.86342	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|375;375	.|O15033-2;O15033	.|.;K0317_HUMAN	T|H	109|375;214;214	.|ENSP00000348714:R375H;ENSP00000452101:R214H	.|ENSP00000348714:R375H	A|R	-|-	1|2	0|0	KIAA0317|KIAA0317	74210524|74210524	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	5.640000|5.640000	0.67875|0.67875	2.673000|2.673000	0.90976|0.90976	0.585000|0.585000	0.79938|0.79938	GCC|CGC		0.438	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		10	16	0	0	0	1	0	10	16					T	75140771	C	T	75140771	3	4	435	1	0	0	0	0	1	0	0	0	8167	768	27	1	1395	1	KIAA0317	14	75140771	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	264458	75140771	32208769	6306	27231											
KIAA0317	9870	broad.mit.edu	37	chr14	75151249	75151249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatccaggtaatttccccGcacgtagtcataaatagtcc	11	10	9	11	2	1	0	1	0	0	0	4	1	4	1	4	2	0	3	4	2	5	5	rs560391293		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:75151249G>A	ENST00000356357.4	-	4	666	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	51					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R51W(1)									TAATTTCCCCGCACGTAGTCA	0.557													G|||	1	0.000199681	8e-04	0	5008	,	,		17848	0		0	False		,,,				2504	0					ENST00000356357.4																			1	Substitution - Missense(1)	p.R51W(1)	endometrium(1)								c.(151-153)Cgg>Tgg		apoptosis resistant E3 ubiquitin protein ligase 1							63	61	62					14																	75151249		1871	4099	5970	SO:0001583	missense	9870							g.chr14:75151249G>A	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"KIAA0317"	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.151C>T	14.37:g.75151249G>A	ENSP00000348714:p.Arg51Trp					AREL1_ENST00000557401.1_5'UTR	p.R51W	NM_001039479.1	NP_001034568.1					4	666	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.151C>T	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742528	0.89573	.	.	ENSG00000119682	ENST00000356357;ENST00000555249	T;T	0.52526	0.66;0.66	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.80764	0.994;0.893	T	0.63269	-0.6675	10	0.72032	D	0.01	.	20.0203	0.97492	0.0:0.0:1.0:0.0	.	51;51	O15033-2;O15033	.;K0317_HUMAN	W	51	ENSP00000348714:R51W;ENSP00000450458:R51W	ENSP00000348714:R51W	R	-	1	2	KIAA0317	74221002	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.557000	0.82243	2.730000	0.93505	0.655000	0.94253	CGG		0.557	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		10	22	0	0	0	1	0	10	22					A	75151249	G	A	75151249	3	1	435	1	0	0	0	0	1	0	0	0	8167	1086	38	1	2388	1	KIAA0317	14	75151249	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10478	75151249	32198291	6307	27232											
DLST	1743	broad.mit.edu	37	chr14	75368922	75368922	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgcggcccatgatgtaCgtggcactgacctatgatca	9	9	13	10	2	1	3	1	3	0	0	1	4	1	3	2	3	2	2	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:75368922C>T	ENST00000334220.4	+	15	1312	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y	DLST_ENST00000334212.6_Silent_p.Y331Y	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	417					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CCATGATGTACGTGGCACTGA	0.547																																						ENST00000334220.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1249-1251)taC>taT		dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)							80	58	66					14																	75368922		2203	4300	6503	SO:0001819	synonymous_variant	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75368922C>T		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.1251C>T	14.37:g.75368922C>T						DLST_ENST00000334212.6_Silent_p.Y331Y	p.Y417Y	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	15	1312	+			417					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Silent	SNP	ENST00000334220.4	37	c.1251C>T	CCDS9833.1																																																																																				0.547	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			7	10	0	0	0	1	0	7	10					T	75368922	C	T	75368922	2	4	435	1	0	0	0	0	0	0	0	1	4569	547	19	1		1	DLST	14	75368922	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	217673	75368922	31980618	6308	27233											
MLH3	27030	broad.mit.edu	37	chr14	75515153	75515153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgactgcaaattaaacatCtcataggaatctaaaatatt	17	14	4	6	0	2	1	1	1	2	0	3	2	2	2	0	1	2	1	0	1	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:75515153C>A	ENST00000556740.1	-	1	1241	c.1206G>T	c.(1204-1206)gaG>gaT	p.E402D	MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.E402D|MLH3_ENST00000238662.7_Missense_Mutation_p.E402D|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.E402D			Q9UHC1	MLH3_HUMAN	mutL homolog 3	402					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		AATTAAACATCTCATAGGAAT	0.353								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1204-1206)gaG>gaT	Mismatch excision repair (MMR)	mutL homolog 3							47	47	47					14																	75515153		2202	4299	6501	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75515153C>A	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1206G>T	14.37:g.75515153C>A	ENSP00000452316:p.Glu402Asp					MLH3_ENST00000556740.1_Missense_Mutation_p.E402D|MLH3_ENST00000556257.1_Missense_Mutation_p.E402D|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.E402D	p.E402D	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1421	-			402					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.1206G>T	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751246	0.31046	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D	0.85411	-1.82;-1.89;-1.98;-1.82	5.74	2.27	0.28462	.	0.060759	0.64402	D	0.000004	D	0.89361	0.6693	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.966	D;P	0.85130	0.997;0.83	D	0.86176	0.1603	10	0.39692	T	0.17	-19.0298	7.9682	0.30111	0.0:0.2487:0.0:0.7513	.	402;402	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	D	402	ENSP00000348020:E402D;ENSP00000238662:E402D;ENSP00000451540:E402D;ENSP00000452316:E402D	ENSP00000238662:E402D	E	-	3	2	MLH3	74584906	1.000000	0.71417	0.996000	0.52242	0.907000	0.53573	1.882000	0.39648	0.483000	0.27608	0.650000	0.86243	GAG		0.353	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		15	36	1	0	6.72482e-11	1	7.20828e-11	15	36					A	75515153	C	A	75515153	3	1	435	1	0	0	0	0	1	0	0	0	9618	912	32	5	3203	5	MLH3	14	75515153	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	146231	75515153	31834387	6309	27234											
FAM164C	79696	broad.mit.edu	37	chr14	75538516	75538516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaacatctgcagcaggatgCggggttccaagaggaaagtg	12	6	14	9	1	1	1	0	0	1	1	2	3	2	3	2	4	4	3	2	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:75538516C>T	ENST00000524913.1	+	2	1729	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W	ZC2HC1C_ENST00000439583.2_Intron|ZC2HC1C_ENST00000238686.8_Intron|ZC2HC1C_ENST00000526748.1_Intron|ACYP1_ENST00000555463.1_5'Flank	NM_024643.2	NP_078919.2	Q53FD0	ZC21C_HUMAN	zinc finger, C2HC-type containing 1C	414							metal ion binding (GO:0046872)										CAGCAGGATGCGGGGTTCCAA	0.577																																						ENST00000524913.1																			0											c.(1240-1242)Cgg>Tgg		zinc finger, C2HC-type containing 1C							38	41	40					14																	75538516		1954	4149	6103	SO:0001583	missense	79696							g.chr14:75538516C>T	AK026746	CCDS41972.1, CCDS45138.1	14q24.3	2013-01-10	2012-02-03	2012-02-03	ENSG00000119703	ENSG00000119703		"Zinc fingers, C2HC-type containing"	20354	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 140", "family with sequence similarity 164, member C"	C14orf140, FAM164C			Standard	XM_005268062		Approved		uc001xrh.3	Q53FD0	OTTHUMG00000167439	ENST00000524913.1:c.1240C>T	14.37:g.75538516C>T	ENSP00000435550:p.Arg414Trp					ZC2HC1C_ENST00000439583.2_Intron|ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000238686.8_Intron	p.R414W	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN			2	1729	+			0					E9PJQ0|Q9BTA8|Q9H5S9	Missense_Mutation	SNP	ENST00000524913.1	37	c.1240C>T	CCDS41972.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624869	0.28889	.	.	ENSG00000119703	ENST00000524913	T	0.45668	0.89	5.42	3.59	0.41128	.	0.165679	0.40222	N	0.001145	T	0.21227	0.0511	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.01281	0.0	T	0.05386	-1.0888	9	.	.	.	-3.9884	11.6235	0.51132	0.0:0.8557:0.0:0.1443	.	414	E9PJQ0	.	W	414	ENSP00000435550:R414W	.	R	+	1	2	FAM164C	74608269	0.925000	0.31364	0.993000	0.49108	0.021000	0.10359	3.375000	0.52410	1.424000	0.47217	-0.136000	0.14681	CGG		0.577	ZC2HC1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394616.4	NM_001042430		11	18	0	0	0	1	0	11	18					T	75538516	C	T	75538516	3	4	435	1	0	0	0	0	1	0	0	0	5479	759	27	1	1242	1	FAM164C	14	75538516	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	23363	75538516	31811024	6310	27235											
NEK9	91754	broad.mit.edu	37	chr14	75563873	75563873	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagagatccaaaaataggCcgaggccatgaggtacagat	15	6	12	8	1	0	3	0	1	0	2	1	5	1	3	3	3	2	2	3	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:75563873C>T	ENST00000238616.5	-	17	2261	c.2103G>A	c.(2101-2103)cgG>cgA	p.R701R		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	701					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CAAAAATAGGCCGAGGCCATG	0.507																																						ENST00000238616.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(2101-2103)cgG>cgA		NIMA-related kinase 9							85	74	78					14																	75563873		2203	4300	6503	SO:0001819	synonymous_variant	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75563873C>T	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"NIMA (never in mitosis gene a)- related kinase 9"			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2103G>A	14.37:g.75563873C>T							p.R701R	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	17	2261	-			701					Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Silent	SNP	ENST00000238616.5	37	c.2103G>A	CCDS9839.1																																																																																				0.507	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		7	18	0	0	0	1	0	7	18					T	75563873	C	T	75563873	2	4	435	1	0	0	0	0	0	0	0	1	10331	726	26	3		3	NEK9	14	75563873	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25357	75563873	31785667	6311	27236											
FLVCR2	55640	broad.mit.edu	37	chr14	76107352	76107352	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtttgctgtggagctcacGtacccagaatcagaaggcat	11	9	12	9	1	2	2	2	0	0	2	2	4	2	3	1	2	3	5	1	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:76107352G>A	ENST00000238667.4	+	7	1646	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000539311.1_Silent_p.T225T|FLVCR2_ENST00000555027.1_Silent_p.T145T|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000553587.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	430			T -> M (in PVHH). {ECO:0000269|PubMed:20690116}.|T -> R (in PVHH). {ECO:0000269|PubMed:20206334}.		heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGGAGCTCACGTACCCAGAAT	0.498																																						ENST00000238667.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1288-1290)acG>acA		feline leukemia virus subgroup C cellular receptor family, member 2							137	122	127					14																	76107352		2203	4300	6503	SO:0001819	synonymous_variant	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76107352G>A	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"Solute carriers"	20105	protein-coding gene	gene with protein product		610865	"chromosome 14 open reading frame 58", "feline leukemia virus subgroup C cellular receptor 2"	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1290G>A	14.37:g.76107352G>A						FLVCR2_ENST00000555027.1_Silent_p.T145T|FLVCR2_ENST00000539311.1_Silent_p.T225T|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000553587.1_Intron	p.T430T	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	7	1646	+			430		T -> M (in PVHH).|T -> R (in PVHH).			B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	37	c.1290G>A	CCDS9844.1																																																																																				0.498	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		7	58	0	0	0	1	0	7	58					A	76107352	G	A	76107352	2	1	435	1	0	0	0	0	0	0	0	1	5946	1132	40	1		1	FLVCR2	14	76107352	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	543479	76107352	31242188	6312	27237											
TTLL5	23093	broad.mit.edu	37	chr14	76200338	76200338	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgttctgttagtgatgcGcctctggacctaaagattaa	9	14	9	9	1	3	2	0	1	3	1	3	3	3	3	2	1	1	2	2	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:76200338G>A	ENST00000298832.9	+	14	1336	c.1131G>A	c.(1129-1131)gcG>gcA	p.A377A	TTLL5_ENST00000557636.1_Silent_p.A377A|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	377	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTAGTGATGCGCCTCTGGACC	0.388																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(1129-1131)gcG>gcA		tubulin tyrosine ligase-like family, member 5							210	195	200					14																	76200338		2203	4300	6503	SO:0001819	synonymous_variant	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76200338G>A	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1131G>A	14.37:g.76200338G>A						TTLL5_ENST00000557636.1_Silent_p.A377A|TTLL5_ENST00000555422.1_3'UTR	p.A377A	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	14	1336	+			377			TTL.		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	ENST00000298832.9	37	c.1131G>A	CCDS32124.1																																																																																				0.388	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		32	52	0	0	0	1	0	32	52					A	76200338	G	A	76200338	2	1	435	1	0	0	0	0	0	0	0	1	16727	1074	38	1		1	TTLL5	14	76200338	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	92986	76200338	31149202	6313	27238											
C14orf118	55668	broad.mit.edu	37	chr14	76647149	76647149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actccctggatgttcttgccGatgcttctcaccgaaggtgt	6	13	10	12	2	2	0	1	0	2	0	4	3	3	1	3	2	2	2	3	2	1	3	rs376476893		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:76647149G>A	ENST00000261530.7	+	8	1216	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	GPATCH2L_ENST00000553588.1_Silent_p.P4P|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.D379N	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	384																	TGTTCTTGCCGATGCTTCTCA	0.433																																						ENST00000261530.7																			0											c.(1150-1152)Gat>Aat		G patch domain containing 2-like		G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	262	226	238		1150,1135	5.8	1	14		238	0,8600		0,0,4300	no	missense,missense	C14orf118	NM_017926.2,NM_017972.2	23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	384/483,379/478	76647149	1,13005	2203	4300	6503	SO:0001583	missense	55668							g.chr14:76647149G>A	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 118"	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.1150G>A	14.37:g.76647149G>A	ENSP00000261530:p.Asp384Asn					GPATCH2L_ENST00000553588.1_Silent_p.P4P|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.D379N	p.D384N	NM_017926.2	NP_060396.2					8	1216	+								B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	ENST00000261530.7	37	c.1150G>A	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694340	0.68386	2.27E-4	0.0	ENSG00000089916	ENST00000312858;ENST00000261530	T;T	0.55588	0.51;0.51	5.79	5.79	0.91817	.	0.538493	0.19960	N	0.102235	T	0.68412	0.2998	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.988;0.963	T	0.68872	-0.5294	10	0.87932	D	0	-25.3785	18.2217	0.89904	0.0:0.0:1.0:0.0	.	379;384	Q9NWQ4-4;Q9NWQ4	.;CN118_HUMAN	N	379;384	ENSP00000323775:D379N;ENSP00000261530:D384N	ENSP00000261530:D384N	D	+	1	0	C14orf118	75716902	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	6.488000	0.73637	2.739000	0.93911	0.655000	0.94253	GAT		0.433	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		59	90	0	0	0	1	0	59	90					A	76647149	G	A	76647149	3	1	435	1	0	0	0	0	1	0	0	0	1741	1058	37	2	1220	2	C14orf118	14	76647149	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	446811	76647149	30702391	6314	27239											
ESRRB	2103	broad.mit.edu	37	chr14	76928912	76928912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattgagtacagctgcccggCcaccaacgagtgcgagatca	11	6	11	13	3	1	2	1	1	0	1	1	4	1	2	3	1	5	2	3	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:76928912C>T	ENST00000509242.1	+	4	520	c.422C>T	c.(421-423)gCc>gTc	p.A141V	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.A141V|ESRRB_ENST00000380887.2_Missense_Mutation_p.A141V|ESRRB_ENST00000261532.7_Missense_Mutation_p.A141V	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	141					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		AGCTGCCCGGCCACCAACGAG	0.627																																						ENST00000380887.2																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(421-423)gCc>gTc		estrogen-related receptor beta							57	55	56					14																	76928912		2203	4300	6503	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76928912C>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"Nuclear hormone receptors"	3473	protein-coding gene	gene with protein product		602167	"deafness, autosomal recessive 35"	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.422C>T	14.37:g.76928912C>T	ENSP00000422488:p.Ala141Val					ESRRB_ENST00000261532.7_Missense_Mutation_p.A141V|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000509242.1_Missense_Mutation_p.A141V|ESRRB_ENST00000556177.1_Missense_Mutation_p.A141V	p.A141V			A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	3	494	+			141					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.422C>T	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388924	0.82902	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33	5.08	5.08	0.68730	.	0.052451	0.85682	D	0.000000	D	0.95847	0.8648	L	0.56280	1.765	0.80722	D	1	B;B	0.17268	0.021;0.021	B;B	0.23716	0.048;0.048	D	0.93547	0.6883	10	0.52906	T	0.07	.	18.5454	0.91044	0.0:1.0:0.0:0.0	.	141;146	Q5F0P7;E7EWD9	.;.	V	146;141;141;141;141	ENSP00000424992:A146V;ENSP00000422488:A141V;ENSP00000451658:A141V;ENSP00000370270:A141V;ENSP00000261532:A141V	ENSP00000261532:A141V	A	+	2	0	ESRRB	75998665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.765000	0.85310	2.372000	0.80975	0.555000	0.69702	GCC		0.627	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			16	23	0	0	0	1	0	16	23					T	76928912	C	T	76928912	3	4	435	1	0	0	0	0	1	0	0	0	5261	739	26	3	428	3	ESRRB	14	76928912	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	281763	76928912	30420628	6315	27240											
ESRRB	2103	broad.mit.edu	37	chr14	76948992	76948992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagccggacaagctctatgCcatgcctccccctggtatgc	7	9	10	15	1	1	1	0	1	1	0	2	2	2	2	5	2	5	2	5	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:76948992C>T	ENST00000509242.1	+	6	775	c.677C>T	c.(676-678)gCc>gTc	p.A226V	ESRRB_ENST00000556177.1_Missense_Mutation_p.A226V|ESRRB_ENST00000380887.2_Missense_Mutation_p.A226V|ESRRB_ENST00000261532.7_Missense_Mutation_p.A226V	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	226					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		AAGCTCTATGCCATGCCTCCC	0.552																																						ENST00000380887.2																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(676-678)gCc>gTc		estrogen-related receptor beta							104	84	91					14																	76948992		2203	4300	6503	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76948992C>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"Nuclear hormone receptors"	3473	protein-coding gene	gene with protein product		602167	"deafness, autosomal recessive 35"	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.677C>T	14.37:g.76948992C>T	ENSP00000422488:p.Ala226Val					ESRRB_ENST00000261532.7_Missense_Mutation_p.A226V|ESRRB_ENST00000509242.1_Missense_Mutation_p.A226V|ESRRB_ENST00000556177.1_Missense_Mutation_p.A226V	p.A226V			A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	5	749	+			226					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.677C>T	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385883	0.82902	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.72906	0.3519	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.976;0.978	T	0.72377	-0.4312	10	0.30078	T	0.28	.	19.2864	0.94072	0.0:1.0:0.0:0.0	.	226;231	Q5F0P7;E7EWD9	.;.	V	231;226;226;226;226	ENSP00000424992:A231V;ENSP00000422488:A226V;ENSP00000451658:A226V;ENSP00000370270:A226V;ENSP00000261532:A226V	ENSP00000261532:A226V	A	+	2	0	ESRRB	76018745	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	7.669000	0.83911	2.559000	0.86315	0.655000	0.94253	GCC		0.552	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			10	31	0	0	0	1	0	10	31					T	76948992	C	T	76948992	3	4	435	1	0	0	0	0	1	0	0	0	5261	739	26	3	691	3	ESRRB	14	76948992	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20080	76948992	30400548	6316	27241											
VASH1	22846	broad.mit.edu	37	chr14	77242591	77242591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccgcaaggagctggagcGccacgcccgcgacatgcggc	7	4	14	16	6	0	0	0	0	0	0	1	3	1	2	3	3	3	2	3	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:77242591G>A	ENST00000167106.4	+	5	1520	c.887G>A	c.(886-888)cGc>cAc	p.R296H	VASH1_ENST00000554743.1_5'Flank|VASH1_ENST00000556038.1_3'UTR|RP11-488C13.6_ENST00000556368.1_RNA|RP11-488C13.7_ENST00000553758.1_lincRNA	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	296					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GAGCTGGAGCGCCACGCCCGC	0.697																																						ENST00000167106.4																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10						c.(886-888)cGc>cAc		vasohibin 1							19	24	22					14																	77242591		2199	4293	6492	SO:0001583	missense	22846				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		g.chr14:77242591G>A	AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"KIAA1036"	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.887G>A	14.37:g.77242591G>A	ENSP00000167106:p.Arg296His					VASH1_ENST00000556038.1_3'UTR|RP11-488C13.6_ENST00000556368.1_RNA	p.R296H	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)	5	1520	+			296					Q96H02|Q9UBF4|Q9Y629	Missense_Mutation	SNP	ENST00000167106.4	37	c.887G>A	CCDS9851.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077978	0.94000	.	.	ENSG00000071246	ENST00000167106	.	.	.	5.27	5.27	0.74061	.	0.048568	0.85682	D	0.000000	T	0.69780	0.3149	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	T	0.71718	-0.4508	9	0.62326	D	0.03	-14.435	12.2554	0.54621	0.078:0.0:0.922:0.0	.	296	Q7L8A9	VASH1_HUMAN	H	296	.	ENSP00000167106:R296H	R	+	2	0	VASH1	76312344	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	6.812000	0.75226	2.457000	0.83068	0.655000	0.94253	CGC		0.697	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413706.1	NM_014909		4	5	0	0	0	1	0	4	5					A	77242591	G	A	77242591	3	1	435	1	0	0	0	0	1	0	0	0	17122	1087	38	1	905	1	VASH1	14	77242591	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	293599	77242591	30106949	6317	27242											
ANGEL1	23357	broad.mit.edu	37	chr14	77256966	77256966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttaccagttctgttccCattctcacaggactcagctg	8	12	8	13	0	3	0	2	0	2	0	5	1	4	1	2	2	2	4	2	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:77256966C>T	ENST00000251089.2	-	9	1952	c.1840G>A	c.(1840-1842)Ggg>Agg	p.G614R	ANGEL1_ENST00000557179.1_Missense_Mutation_p.G179R	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	614										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GTTCTGTTCCCATTCTCACAG	0.537																																						ENST00000251089.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22						c.(1840-1842)Ggg>Agg		angel homolog 1 (Drosophila)							125	106	112					14																	77256966		2203	4300	6503	SO:0001583	missense	23357							g.chr14:77256966C>T	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1840G>A	14.37:g.77256966C>T	ENSP00000251089:p.Gly614Arg					ANGEL1_ENST00000557179.1_Missense_Mutation_p.G179R	p.G614R	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	9	1952	-			614					B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	c.1840G>A	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	C	9.226	1.034491	0.19590	.	.	ENSG00000013523	ENST00000251089;ENST00000557179	T;T	0.80304	1.59;-1.36	5.76	3.0	0.34707	Endonuclease/exonuclease/phosphatase (2);	0.764529	0.13117	N	0.412482	T	0.74099	0.3672	L	0.56769	1.78	0.34233	D	0.676795	B	0.06786	0.001	B	0.15870	0.014	T	0.67245	-0.5719	10	0.18276	T	0.48	-1.9686	8.7057	0.34354	0.0:0.6993:0.0:0.3007	.	614	Q9UNK9	ANGE1_HUMAN	R	614;179	ENSP00000251089:G614R;ENSP00000451534:G179R	ENSP00000251089:G614R	G	-	1	0	ANGEL1	76326719	0.560000	0.26570	0.994000	0.49952	0.215000	0.24574	0.420000	0.21263	0.394000	0.25230	0.555000	0.69702	GGG		0.537	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		23	31	0	0	0	1	0	23	31					T	77256966	C	T	77256966	3	4	435	1	0	0	0	0	1	0	0	0	608	594	21	3	180	3	ANGEL1	14	77256966	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14375	77256966	30092574	6318	27243											
ANGEL1	23357	broad.mit.edu	37	chr14	77272943	77272943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagcttgacatcgcccCggcgtgggttgtaaaggata	8	8	15	10	3	0	1	0	1	0	0	1	2	0	2	3	4	1	3	3	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:77272943C>T	ENST00000251089.2	-	5	1308	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	ANGEL1_ENST00000554941.1_5'Flank|ANGEL1_ENST00000557179.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	399										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GACATCGCCCCGGCGTGGGTT	0.592																																						ENST00000251089.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22						c.(1195-1197)cGg>cAg		angel homolog 1 (Drosophila)							67	62	64					14																	77272943		2203	4300	6503	SO:0001583	missense	23357							g.chr14:77272943C>T	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1196G>A	14.37:g.77272943C>T	ENSP00000251089:p.Arg399Gln						p.R399Q	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	5	1308	-			399					B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	c.1196G>A	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	C	36	5.842111	0.97016	.	.	ENSG00000013523	ENST00000251089	T	0.80824	-1.42	6.17	6.17	0.99709	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88334	0.2970	10	0.51188	T	0.08	-8.6022	20.8794	0.99867	0.0:1.0:0.0:0.0	.	399	Q9UNK9	ANGE1_HUMAN	Q	399	ENSP00000251089:R399Q	ENSP00000251089:R399Q	R	-	2	0	ANGEL1	76342696	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CGG		0.592	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		11	24	0	0	0	1	0	11	24					T	77272943	C	T	77272943	3	4	435	1	0	0	0	0	1	0	0	0	608	652	23	2	840	2	ANGEL1	14	77272943	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15977	77272943	30076597	6319	27244											
C14orf166B	145497	broad.mit.edu	37	chr14	77297581	77297581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccactggacaaaaggagCtgtacctggaggcctgcaag	12	6	12	11	0	1	0	1	0	0	0	1	3	1	3	3	4	3	3	3	4	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:77297581C>T	ENST00000393774.3	+	3	377	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	C14orf166B_ENST00000450042.2_Silent_p.L68L|C14orf166B_ENST00000460005.1_3'UTR	NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		ACAAAAGGAGCTGTACCTGGA	0.522																																					Ovarian(165;1056 1958 32571 36789 48728)	ENST00000393774.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18						c.(253-255)Ctg>Ttg		chromosome 14 open reading frame 166B							109	94	99					14																	77297581		2203	4300	6503	SO:0001819	synonymous_variant	145497							g.chr14:77297581C>T																												ENST00000393774.3:c.253C>T	14.37:g.77297581C>T						C14orf166B_ENST00000450042.2_Silent_p.L68L|C14orf166B_ENST00000460005.1_3'UTR	p.L85L	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	3	377	+			85						Silent	SNP	ENST00000393774.3	37	c.253C>T	CCDS9853.2																																																																																				0.522	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			13	23	0	0	0	1	0	13	23					T	77297581	C	T	77297581	2	4	435	1	0	0	0	0	0	0	0	1	1757	796	28	3		3	C14orf166B	14	77297581	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	24638	77297581	30051959	6320	27245											
KIAA1737	85457	broad.mit.edu	37	chr14	77576214	77576214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccgaggacatgctgagcGccttaggctggagcagagaa	11	6	15	9	2	0	2	0	1	0	1	1	6	1	4	2	3	3	3	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:77576214G>A	ENST00000361786.2	+	3	513	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	RP11-463C8.4_ENST00000557752.1_Intron|KIAA1737_ENST00000555437.1_Intron|KIAA1737_ENST00000555611.1_Missense_Mutation_p.A66T	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		66					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		CATGCTGAGCGCCTTAGGCTG	0.547																																						ENST00000361786.2																			0				endometrium(2)|lung(4)|prostate(3)	9						c.(196-198)Gcc>Acc		KIAA1737							122	113	116					14																	77576214		2203	4300	6503	SO:0001583	missense	85457							g.chr14:77576214G>A																												ENST00000361786.2:c.196G>A	14.37:g.77576214G>A	ENSP00000355319:p.Ala66Thr					KIAA1737_ENST00000555437.1_Intron|KIAA1737_ENST00000555611.1_Missense_Mutation_p.A66T|RP11-463C8.4_ENST00000557752.1_Intron	p.A66T	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)	3	513	+			66					B2RCI1|Q8N389|Q8NDZ1	Missense_Mutation	SNP	ENST00000361786.2	37	c.196G>A	CCDS9855.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897649	0.33535	.	.	ENSG00000198894	ENST00000361786;ENST00000555611;ENST00000554658;ENST00000557115;ENST00000554447;ENST00000555200	T;T;T;T;T;T	0.44881	1.53;0.91;0.94;0.94;0.94;0.94	6.17	3.03	0.35002	.	0.641580	0.15760	N	0.245994	T	0.16214	0.0390	N	0.05554	-0.025	0.32414	N	0.55024	B	0.20261	0.043	B	0.06405	0.002	T	0.20773	-1.0265	10	0.08837	T	0.75	-18.8138	3.2832	0.06922	0.2971:0.2121:0.4907:0.0	.	66	Q9C0C6	K1737_HUMAN	T	66	ENSP00000355319:A66T;ENSP00000450972:A66T;ENSP00000451522:A66T;ENSP00000452589:A66T;ENSP00000452380:A66T;ENSP00000451493:A66T	ENSP00000355319:A66T	A	+	1	0	KIAA1737	76645967	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	0.140000	0.16056	1.616000	0.50265	0.655000	0.94253	GCC		0.547	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			29	29	0	0	0	1	0	29	29					A	77576214	G	A	77576214	3	1	435	1	0	0	0	0	1	0	0	0	8255	1087	38	1	202	1	KIAA1737	14	77576214	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	278633	77576214	29773326	6321	27246											
C14orf148	122945	broad.mit.edu	37	chr14	77861007	77861007	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcctgtggaaatgactggCtgttctttggttagggagat	9	13	14	5	0	1	2	0	1	1	1	1	4	1	3	1	4	1	3	1	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:77861007C>A	ENST00000380835.2	-	6	1213	c.1047G>T	c.(1045-1047)caG>caT	p.Q349H		NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	349					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						AAATGACTGGCTGTTCTTTGG	0.433																																						ENST00000380835.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(1045-1047)caG>caT		NADP-dependent oxidoreductase domain containing 1							153	137	142					14																	77861007		1568	3582	5150	SO:0001583	missense	122945				proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity	g.chr14:77861007C>A	AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 148"	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.1047G>T	14.37:g.77861007C>A	ENSP00000370215:p.Gln349His						p.Q349H	NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN			6	1213	-			349					B3KQ47|O95435	Missense_Mutation	SNP	ENST00000380835.2	37	c.1047G>T	CCDS45142.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454320	0.26161	.	.	ENSG00000165555	ENST00000380835	T	0.55930	0.49	4.84	1.85	0.25348	.	0.846081	0.10444	N	0.673876	T	0.41419	0.1158	L	0.51422	1.61	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.36841	-0.9731	10	0.42905	T	0.14	-0.2854	2.3018	0.04164	0.1562:0.5096:0.1523:0.1819	.	349	Q6NXP6	NXRD1_HUMAN	H	349	ENSP00000370215:Q349H	ENSP00000370215:Q349H	Q	-	3	2	C14orf148	76930760	0.000000	0.05858	0.028000	0.17463	0.457000	0.32468	-0.073000	0.11468	0.519000	0.28406	0.563000	0.77884	CAG		0.433	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1	NM_138791		18	30	1	0	1.37657e-19	1	1.52335e-19	18	30					A	77861007	C	A	77861007	3	1	435	1	0	0	0	0	1	0	0	0	1751	796	28	5	36	5	C14orf148	14	77861007	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	284793	77861007	29488533	6322	27247											
C14orf148	122945	broad.mit.edu	37	chr14	77889171	77889171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaaatacagccagataCgatcttcctctggaacccca	12	8	6	15	1	2	1	0	0	2	1	3	3	3	2	5	1	5	1	5	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:77889171C>T	ENST00000380835.2	-	1	228	c.62G>A	c.(61-63)cGt>cAt	p.R21H	NOXRED1_ENST00000298358.3_Missense_Mutation_p.R21H	NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	21					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CAGCCAGATACGATCTTCCTC	0.478																																						ENST00000380835.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(61-63)cGt>cAt		NADP-dependent oxidoreductase domain containing 1							138	144	142					14																	77889171		2203	4300	6503	SO:0001583	missense	122945				proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity	g.chr14:77889171C>T	AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 148"	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.62G>A	14.37:g.77889171C>T	ENSP00000370215:p.Arg21His					NOXRED1_ENST00000298358.3_Missense_Mutation_p.R21H	p.R21H	NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN			1	228	-			21					B3KQ47|O95435	Missense_Mutation	SNP	ENST00000380835.2	37	c.62G>A	CCDS45142.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475061	0.26511	.	.	ENSG00000165555	ENST00000380835;ENST00000298358;ENST00000555603	T;T;T	0.56776	0.46;0.44;0.47	5.99	-2.15	0.07102	.	1.306150	0.04916	N	0.454174	T	0.32496	0.0831	N	0.19112	0.55	0.09310	N	1	B;B	0.18013	0.025;0.014	B;B	0.09377	0.004;0.002	T	0.16748	-1.0392	10	0.38643	T	0.18	-0.1072	3.2367	0.06767	0.1056:0.3679:0.1037:0.4229	.	21;21	Q6NXP6-2;Q6NXP6	.;NXRD1_HUMAN	H	21	ENSP00000370215:R21H;ENSP00000298358:R21H;ENSP00000450597:R21H	ENSP00000298358:R21H	R	-	2	0	C14orf148	76958924	0.000000	0.05858	0.001000	0.08648	0.482000	0.33219	-0.747000	0.04823	-0.103000	0.12175	-0.229000	0.12294	CGT		0.478	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1	NM_138791		60	68	0	0	0	1	0	60	68					T	77889171	C	T	77889171	3	4	435	1	0	0	0	0	1	0	0	0	1751	536	19	1	1110	1	C14orf148	14	77889171	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	28164	77889171	29460369	6323	27248											
SPTLC2	9517	broad.mit.edu	37	chr14	78023436	78023436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccagggccttcgtgtccGaggctgaccataaacaatgg	9	9	11	12	2	0	1	0	1	0	0	3	2	2	1	4	3	1	1	4	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:78023436G>A	ENST00000216484.2	-	7	1097	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	SPTLC2_ENST00000556264.1_5'Flank	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	302					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	CTTCGTGTCCGAGGCTGACCA	0.413																																						ENST00000216484.2																			0				kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19						c.(904-906)Cgg>Tgg		serine palmitoyltransferase, long chain base subunit 2	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						97	91	93					14																	78023436		2203	4300	6503	SO:0001583	missense	9517					integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr14:78023436G>A	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.904C>T	14.37:g.78023436G>A	ENSP00000216484:p.Arg302Trp						p.R302W	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	7	1097	-			302					Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	c.904C>T	CCDS9865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.024555|4.024555	0.75390|0.75390	.|.	.|.	ENSG00000100596|ENSG00000100596	ENST00000216484|ENST00000554901	D|.	0.95949|.	-3.86|.	5.05|5.05	5.05|5.05	0.67936|0.67936	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88804|0.88804	0.6536|0.6536	H|H	0.97240|0.97240	3.965|3.965	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.92831|0.92831	0.6280|0.6280	10|5	0.87932|.	D|.	0|.	-12.5674|-12.5674	18.7783|18.7783	0.91920|0.91920	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	302|.	O15270|.	SPTC2_HUMAN|.	W|L	302|238	ENSP00000216484:R302W|.	ENSP00000216484:R302W|.	R|S	-|-	1|2	2|0	SPTLC2|SPTLC2	77093189|77093189	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.587000|3.587000	0.53957|0.53957	2.499000|2.499000	0.84300|0.84300	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.413	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		20	32	0	0	0	1	0	20	32					A	78023436	G	A	78023436	3	1	435	1	0	0	0	0	1	0	0	0	15123	1057	37	2	808	2	SPTLC2	14	78023436	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	134265	78023436	29326104	6324	27249											
ALKBH1	8846	broad.mit.edu	37	chr14	78161199	78161199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcactgtttcacccagtGccactggtaacctgggagga	10	8	12	11	0	1	0	1	0	0	0	1	2	1	2	3	4	2	3	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:78161199G>A	ENST00000216489.3	-	3	352	c.337C>T	c.(337-339)Cac>Tac	p.H113Y	ALKBH1_ENST00000554097.1_5'UTR	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	113					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TTCACCCAGTGCCACTGGTAA	0.418																																						ENST00000216489.3																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(337-339)Cac>Tac		alkB, alkylation repair homolog 1 (E. coli)							91	90	90					14																	78161199		2203	4300	6503	SO:0001583	missense	8846				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	g.chr14:78161199G>A	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"Alkylation repair homologs"	17911	protein-coding gene	gene with protein product		605345	"alkB, alkylation repair homolog (E. coli)"	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.337C>T	14.37:g.78161199G>A	ENSP00000216489:p.His113Tyr					ALKBH1_ENST00000554097.1_5'UTR	p.H113Y	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	3	352	-			113					Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	c.337C>T	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	G	7.990	0.753060	0.15778	.	.	ENSG00000100601	ENST00000216489	T	0.11277	2.79	6.17	6.17	0.99709	.	0.090436	0.85682	D	0.000000	T	0.13756	0.0333	N	0.16066	0.365	0.53005	D	0.999962	D	0.61080	0.989	P	0.57620	0.824	T	0.02774	-1.1112	10	0.02654	T	1	-12.6784	20.8794	0.99867	0.0:0.0:1.0:0.0	.	113	Q13686	ALKB1_HUMAN	Y	113	ENSP00000216489:H113Y	ENSP00000216489:H113Y	H	-	1	0	ALKBH1	77230952	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.933000	0.70130	2.941000	0.99782	0.655000	0.94253	CAC		0.418	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		27	34	0	0	0	1	0	27	34					A	78161199	G	A	78161199	3	1	435	1	0	0	0	0	1	0	0	0	526	1319	46	3	848	3	ALKBH1	14	78161199	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	137763	78161199	29188341	6325	27250											
NRXN3	9369	broad.mit.edu	37	chr14	79933569	79933569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttgcttttgcagctggcGctacgtacatctttgggaaa	7	14	10	10	2	1	0	0	0	1	0	2	1	2	1	1	2	5	5	1	2	3	6	rs373319691		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:79933569G>A	ENST00000557594.1	+	2	1206	c.253G>A	c.(253-255)Gct>Act	p.A85T	NRXN3_ENST00000428277.2_Missense_Mutation_p.A85T|NRXN3_ENST00000281127.7_Missense_Mutation_p.A85T|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Missense_Mutation_p.A717T|NRXN3_ENST00000335750.5_Missense_Mutation_p.A717T	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	85	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGCAGCTGGCGCTACGTACAT	0.557																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(253-255)Gct>Act		neurexin 3							118	86	97					14																	79933569		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79933569G>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.253G>A	14.37:g.79933569G>A	ENSP00000451672:p.Ala85Thr					NRXN3_ENST00000335750.5_Missense_Mutation_p.A717T|NRXN3_ENST00000554719.1_Missense_Mutation_p.A717T|NRXN3_ENST00000557594.1_Missense_Mutation_p.A85T|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Missense_Mutation_p.A85T	p.A85T	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	2	1132	+		Renal(4;0.00876)	85			Laminin G-like.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.253G>A		.	.	.	.	.	.	.	.	.	.	G	9.638	1.138311	0.21123	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.78364	-1.17;-1.17;1.15;1.15;1.15	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.055635	0.64402	D	0.000001	T	0.47395	0.1443	N	0.00453	-1.485	0.54753	D	0.999986	B;B;B;B	0.26975	0.005;0.165;0.019;0.001	B;B;B;B	0.17979	0.006;0.02;0.005;0.001	T	0.57207	-0.7851	9	.	.	.	.	20.103	0.97881	0.0:0.0:1.0:0.0	.	85;85;85;717	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	T	1090;1079;717;717;85;85;85	ENSP00000451648:A717T;ENSP00000338349:A717T;ENSP00000451672:A85T;ENSP00000281127:A85T;ENSP00000394426:A85T	.	A	+	1	0	NRXN3	79003322	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	5.980000	0.70516	2.738000	0.93877	0.655000	0.94253	GCT		0.557	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		12	19	0	0	0	1	0	12	19					A	79933569	G	A	79933569	3	1	435	1	0	0	0	0	1	0	0	0	10667	1087	38	1	2442	1	NRXN3	14	79933569	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1772370	79933569	27415971	6326	27251											
NRXN3	9369	broad.mit.edu	37	chr14	80164184	80164184	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaacaacacagacgacCtccatgccaccagaaatgtc	14	6	8	13	1	0	2	0	0	0	2	2	4	1	3	4	1	3	0	4	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:80164184C>T	ENST00000557594.1	+	4	1766	c.813C>T	c.(811-813)acC>acT	p.T271T	NRXN3_ENST00000428277.2_Silent_p.T301T|NRXN3_ENST00000281127.7_Silent_p.T271T|NRXN3_ENST00000556003.1_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000554719.1_Silent_p.T903T|NRXN3_ENST00000335750.5_Silent_p.T903T	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	271					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CACAGACGACCTCCATGCCAC	0.468																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(811-813)acC>acT		neurexin 3							123	103	110					14																	80164184		2203	4300	6503	SO:0001819	synonymous_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:80164184C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.813C>T	14.37:g.80164184C>T						NRXN3_ENST00000335750.5_Silent_p.T903T|NRXN3_ENST00000554719.1_Silent_p.T903T|NRXN3_ENST00000557594.1_Silent_p.T271T|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000428277.2_Silent_p.T301T	p.T271T	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	1692	+		Renal(4;0.00876)	271					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000557594.1	37	c.813C>T																																																																																					0.468	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		29	48	0	0	0	1	0	29	48					T	80164184	C	T	80164184	2	4	435	1	0	0	0	0	0	0	0	1	10667	668	24	3		3	NRXN3	14	80164184	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	230615	80164184	27185356	6327	27252											
DIO2	1734	broad.mit.edu	37	chr14	80677658	80677658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccctctgaggtcagcatgCgccgccactctccgcgagtg	5	8	12	16	4	3	1	1	1	2	0	5	2	4	1	4	1	2	1	4	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:80677658C>T	ENST00000557010.1	-	3	543	c.158G>A	c.(157-159)cGc>cAc	p.R53H	DIO2_ENST00000555750.1_Missense_Mutation_p.R53H|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000422005.3_Missense_Mutation_p.R53H|DIO2-AS1_ENST00000553979.1_RNA|DIO2_ENST00000438257.4_Missense_Mutation_p.R53H	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	53					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GGTCAGCATGCGCCGCCACTC	0.587																																						ENST00000557010.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25						c.(157-159)cGc>cAc		deiodinase, iodothyronine, type II							31	34	33					14																	80677658		2059	4193	6252	SO:0001583	missense	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80677658C>T	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"thyroxine deiodinase, type II", "deiodonase-2", "deiodinase-2"	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.158G>A	14.37:g.80677658C>T	ENSP00000451419:p.Arg53His					DIO2_ENST00000422005.3_Missense_Mutation_p.R53H|DIO2_ENST00000555750.1_Missense_Mutation_p.R53H|DIO2_ENST00000438257.4_Missense_Mutation_p.R53H|DIO2_ENST00000557125.1_Intron	p.R53H	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	3	543	-			53					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	c.158G>A	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622326	0.87460	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000422005;ENST00000555750;ENST00000388838;ENST00000554188	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.7	5.7	0.88788	.	0.082981	0.45361	D	0.000372	T	0.67998	0.2953	M	0.86343	2.81	0.51012	D	0.999907	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.942;0.998;0.966;0.993	T	0.72940	-0.4139	10	0.87932	D	0	.	19.8407	0.96681	0.0:1.0:0.0:0.0	.	53;53;53;53	Q92813-2;Q92813;G3V315;A8K845	.;IOD2_HUMAN;.;.	H	53	ENSP00000405854:R53H;ENSP00000451419:R53H;ENSP00000411438:R53H;ENSP00000450980:R53H;ENSP00000451136:R53H	ENSP00000373490:R53H	R	-	2	0	DIO2	79747411	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.780000	0.68956	2.677000	0.91161	0.650000	0.86243	CGC		0.587	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			11	9	0	0	0	1	0	11	9					T	80677658	C	T	80677658	3	4	435	1	0	0	0	0	1	0	0	0	4525	768	27	1	783	1	DIO2	14	80677658	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	513474	80677658	26671882	6328	27253											
C14orf145	145508	broad.mit.edu	37	chr14	81372379	81372379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgagtttctcaataaaCgttgactccggagttggtcg	8	13	10	10	3	1	2	1	2	1	0	5	3	3	3	2	2	1	3	2	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:81372379C>T	ENST00000555265.1	-	5	656	c.281G>A	c.(280-282)cGt>cAt	p.R94H	CEP128_ENST00000216517.6_Missense_Mutation_p.R94H|CEP128_ENST00000281129.3_Missense_Mutation_p.R94H|CEP128_ENST00000327841.2_Missense_Mutation_p.R34H			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	94						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTCAATAAACGTTGACTCCG	0.368																																						ENST00000555265.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(280-282)cGt>cAt		centrosomal protein 128kDa							73	69	70					14																	81372379		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81372379C>T	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.281G>A	14.37:g.81372379C>T	ENSP00000451162:p.Arg94His					CEP128_ENST00000281129.3_Missense_Mutation_p.R94H|CEP128_ENST00000327841.2_Missense_Mutation_p.R34H|CEP128_ENST00000216517.6_Missense_Mutation_p.R94H	p.R94H			Q6ZU80	CE128_HUMAN			5	656	-			94					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.281G>A	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301248	0.81136	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517;ENST00000327841;ENST00000555529;ENST00000556042	T;T;T;T;T	0.61859	0.64;0.64;0.07;0.18;0.14	6.16	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.66809	0.2827	L	0.36672	1.1	0.46678	D	0.999154	D;D;P	0.89917	0.987;1.0;0.901	P;D;B	0.91635	0.495;0.999;0.232	T	0.69522	-0.5123	10	0.66056	D	0.02	.	12.9617	0.58462	0.0:0.9245:0.0:0.0755	.	94;94;94	G3V3F4;Q6ZU80-3;Q6ZU80	.;.;CE128_HUMAN	H	94;94;94;94;34;94;94	ENSP00000281129:R94H;ENSP00000451162:R94H;ENSP00000216517:R94H;ENSP00000451137:R94H;ENSP00000451214:R94H	ENSP00000216517:R94H	R	-	2	0	CEP128	80442132	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	5.058000	0.64300	1.625000	0.50366	-0.157000	0.13467	CGT		0.368	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		18	48	0	0	0	1	0	18	48					T	81372379	C	T	81372379	3	4	435	1	0	0	0	0	1	0	0	0	1749	536	19	1	3087	1	C14orf145	14	81372379	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	694721	81372379	25977161	6329	27254											
STON2	85439	broad.mit.edu	37	chr14	81744924	81744924	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggagaggtgactggtggtAaagggcagctgacttcattg	10	9	17	5	0	1	3	1	2	0	1	1	5	1	3	0	5	1	3	0	5	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:81744924A>G	ENST00000267540.2	-	4	931	c.731T>C	c.(730-732)tTa>tCa	p.L244S	STON2_ENST00000555447.1_Missense_Mutation_p.L244S|STON2_ENST00000556280.1_5'UTR	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	244					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				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)		GACTGGTGGTAAAGGGCAGCT	0.512																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(730-732)tTa>tCa		stonin 2							99	93	95					14																	81744924		2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81744924A>G	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.731T>C	14.37:g.81744924A>G	ENSP00000267540:p.Leu244Ser					STON2_ENST00000267540.2_Missense_Mutation_p.L244S|STON2_ENST00000556280.1_5'UTR	p.L244S	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	6	1143	-			244					G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.731T>C	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.532006	0.00951	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	D;D	0.85088	-1.94;-1.94	5.97	2.43	0.29744	Stonin-2, N-terminal (1);	0.383792	0.21265	N	0.077410	T	0.69993	0.3173	L	0.27053	0.805	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.002	T	0.50389	-0.8834	10	0.06757	T	0.87	-2.356	7.627	0.28218	0.6462:0.0:0.3538:0.0	.	244;244	Q8WXE9;G3V2T7	STON2_HUMAN;.	S	244;256;244	ENSP00000450857:L244S;ENSP00000267540:L244S	ENSP00000267540:L244S	L	-	2	0	STON2	80814677	0.999000	0.42202	0.372000	0.25991	0.753000	0.42808	1.739000	0.38217	0.520000	0.28426	0.533000	0.62120	TTA		0.512	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		18	36	0	0	0	1	0	18	36					G	81744924	A	G	81744924	3	3	435	1	0	0	0	0	1	0	0	0	15317	372	13	4	1992	4	STON2	14	81744924	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	372545	81744924	25604616	6330	27255											
STON2	85439	broad.mit.edu	37	chr14	81745071	81745071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcttcatcttcttgaagcGaggaggaattgtctaaaagg	11	13	10	7	1	5	1	1	1	4	0	5	4	5	3	0	3	1	0	0	3	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:81745071G>A	ENST00000267540.2	-	4	784	c.584C>T	c.(583-585)tCg>tTg	p.S195L	STON2_ENST00000555447.1_Missense_Mutation_p.S195L|STON2_ENST00000556280.1_5'UTR	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	195					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				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)		TTCTTGAAGCGAGGAGGAATT	0.493																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(583-585)tCg>tTg		stonin 2							55	58	57					14																	81745071		2202	4300	6502	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81745071G>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.584C>T	14.37:g.81745071G>A	ENSP00000267540:p.Ser195Leu					STON2_ENST00000267540.2_Missense_Mutation_p.S195L|STON2_ENST00000556280.1_5'UTR	p.S195L	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	6	996	-			195					G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.584C>T	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	6.736	0.504652	0.12822	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.55234	0.53;0.53	6.11	5.22	0.72569	Stonin-2, N-terminal (1);	0.152767	0.47093	N	0.000254	T	0.44117	0.1278	L	0.45581	1.43	0.35098	D	0.764986	P;P	0.45986	0.87;0.842	B;B	0.35470	0.203;0.129	T	0.59974	-0.7353	10	0.42905	T	0.14	-8.7092	15.4263	0.75055	0.0661:0.0:0.9339:0.0	.	195;195	Q8WXE9;G3V2T7	STON2_HUMAN;.	L	195;207;195	ENSP00000450857:S195L;ENSP00000267540:S195L	ENSP00000267540:S195L	S	-	2	0	STON2	80814824	1.000000	0.71417	0.986000	0.45419	0.089000	0.18198	3.858000	0.55979	1.605000	0.50152	0.655000	0.94253	TCG		0.493	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		6	51	0	0	0	1	0	6	51					A	81745071	G	A	81745071	3	1	435	1	0	0	0	0	1	0	0	0	15317	1059	37	2	2139	2	STON2	14	81745071	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	147	81745071	25604469	6331	27256											
STON2	85439	broad.mit.edu	37	chr14	81864721	81864721	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaatcacatggtccaaagtCgtcatgctaaaaaggcactg	14	8	9	10	1	2	0	2	0	0	0	4	0	3	0	1	2	1	3	1	2	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:81864721C>T	ENST00000267540.2	-	1	206	c.6G>A	c.(4-6)acG>acA	p.T2T	STON2_ENST00000555447.1_Silent_p.T2T	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	2					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				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)		GGTCCAAAGTCGTCATGCTAA	0.537																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(4-6)acG>acA		stonin 2							130	107	115					14																	81864721		2203	4300	6503	SO:0001819	synonymous_variant	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81864721C>T	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.6G>A	14.37:g.81864721C>T						STON2_ENST00000267540.2_Silent_p.T2T	p.T2T	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	3	418	-			2					G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	ENST00000267540.2	37	c.6G>A	CCDS9875.1																																																																																				0.537	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		7	11	0	0	0	1	0	7	11					T	81864721	C	T	81864721	2	4	435	1	0	0	0	0	0	0	0	1	15317	871	31	2		2	STON2	14	81864721	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	119650	81864721	25484819	6332	27257											
GALC	2581	broad.mit.edu	37	chr14	88414105	88414105	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccttataggtacttgggaAgggctgggattttggaggaa	10	12	15	4	0	0	0	0	0	0	0	1	4	1	4	1	6	1	2	1	6	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:88414105A>G	ENST00000261304.2	-	13	1562	c.1456T>C	c.(1456-1458)Ttc>Ctc	p.F486L	GALC_ENST00000544807.2_Missense_Mutation_p.F430L|GALC_ENST00000393569.2_Missense_Mutation_p.F460L|GALC_ENST00000393568.4_Missense_Mutation_p.F463L	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	486					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTACTTGGGAAGGGCTGGGAT	0.438																																						ENST00000261304.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1456-1458)Ttc>Ctc		galactosylceramidase							121	124	123					14																	88414105		2047	4207	6254	SO:0001583	missense	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88414105A>G	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"Krabbe disease"	606890	"galactosylceramidase (Krabbe disease)"				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1456T>C	14.37:g.88414105A>G	ENSP00000261304:p.Phe486Leu					GALC_ENST00000544807.2_Missense_Mutation_p.F430L|GALC_ENST00000393568.4_Missense_Mutation_p.F463L|GALC_ENST00000393569.2_Missense_Mutation_p.F460L	p.F486L	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN			13	1562	-			486					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	c.1456T>C	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	A	16.91	3.253433	0.59212	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.95468	0.8528	M	0.64260	1.97	0.80722	D	1	D;D;D;D	0.64830	0.99;0.988;0.992;0.994	P;D;P;D	0.65573	0.789;0.936;0.893;0.935	D	0.94005	0.7279	10	0.24483	T	0.36	-23.4948	16.3636	0.83296	1.0:0.0:0.0:0.0	.	430;463;460;486	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	L	486;430;460;275;463	ENSP00000261304:F486L;ENSP00000437513:F430L;ENSP00000377199:F460L;ENSP00000377198:F463L	ENSP00000261304:F486L	F	-	1	0	GALC	87483858	1.000000	0.71417	0.999000	0.59377	0.308000	0.27856	8.843000	0.92142	2.343000	0.79666	0.533000	0.62120	TTC		0.438	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			15	51	0	0	0	1	0	15	51					G	88414105	A	G	88414105	3	3	435	1	0	0	0	0	1	0	0	0	6201	72	3	4	621	4	GALC	14	88414105	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	6549384	88414105	18935435	6333	27258											
SPATA7	55812	broad.mit.edu	37	chr14	88895732	88895732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgccaaagaaaaaatagCtcctttacctttagaagggc	15	10	8	8	0	0	3	0	1	0	2	1	3	1	3	3	1	3	1	3	1	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:88895732C>A	ENST00000393545.4	+	8	1242	c.953C>A	c.(952-954)gCt>gAt	p.A318D	SPATA7_ENST00000556553.1_Missense_Mutation_p.A286D|SPATA7_ENST00000356583.5_Missense_Mutation_p.A286D|SPATA7_ENST00000045347.7_Missense_Mutation_p.A318D	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	318					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GAAAAAATAGCTCCTTTACCT	0.348																																						ENST00000556553.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						c.(856-858)gCt>gAt		spermatogenesis associated 7							102	100	101					14																	88895732		2203	4300	6503	SO:0001583	missense	55812				response to stimulus|visual perception			g.chr14:88895732C>A	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"Leber congenital amaurosis 3"	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.953C>A	14.37:g.88895732C>A	ENSP00000377176:p.Ala318Asp					SPATA7_ENST00000045347.7_Missense_Mutation_p.A318D|SPATA7_ENST00000356583.5_Missense_Mutation_p.A286D|SPATA7_ENST00000393545.4_Missense_Mutation_p.A318D	p.A286D			Q9P0W8	SPAT7_HUMAN			8	1416	+			318					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	ENST00000393545.4	37	c.857C>A	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	C	8.421	0.846390	0.16963	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000045347	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.33	-1.53	0.08611	.	1.113020	0.06567	N	0.747778	T	0.16685	0.0401	L	0.47716	1.5	0.09310	N	1	B;B;B	0.26845	0.161;0.003;0.078	B;B;B	0.27380	0.079;0.006;0.054	T	0.38023	-0.9680	10	0.54805	T	0.06	0.2587	2.1918	0.03901	0.2319:0.2382:0.3774:0.1525	.	286;286;318	A8K3L6;Q9P0W8-2;Q9P0W8	.;.;SPAT7_HUMAN	D	286;318;286;318	ENSP00000451128:A286D;ENSP00000377176:A318D;ENSP00000348991:A286D;ENSP00000045347:A318D	ENSP00000045347:A318D	A	+	2	0	SPATA7	87965485	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.178000	0.09782	-0.177000	0.10690	-0.143000	0.13931	GCT		0.348	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			20	33	1	0	7.41877e-09	1	7.84611e-09	20	33					A	88895732	C	A	88895732	3	1	435	1	0	0	0	0	1	0	0	0	15013	797	28	5	983	5	SPATA7	14	88895732	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	481627	88895732	18453808	6334	27259											
PTPN21	11099	broad.mit.edu	37	chr14	88938739	88938739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactccccatcaactagcCgtttcttaagaattctttca	11	13	4	13	1	4	1	2	0	2	1	5	1	5	1	3	0	3	2	3	0	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:88938739C>T	ENST00000556564.1	-	15	3004	c.2720G>A	c.(2719-2721)cGg>cAg	p.R907Q	PTPN21_ENST00000328736.3_Missense_Mutation_p.R907Q	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	907	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATCAACTAGCCGTTTCTTAAG	0.368																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2719-2721)cGg>cAg		protein tyrosine phosphatase, non-receptor type 21							127	115	119					14																	88938739		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88938739C>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2720G>A	14.37:g.88938739C>T	ENSP00000452414:p.Arg907Gln					PTPN21_ENST00000328736.3_Missense_Mutation_p.R907Q	p.R907Q	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			15	3004	-			907			Tyrosine-protein phosphatase.			Missense_Mutation	SNP	ENST00000556564.1	37	c.2720G>A	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535349	0.85812	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.13089	2.62;2.62	5.86	5.86	0.93980	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.059832	0.64402	D	0.000003	T	0.15176	0.0366	L	0.27944	0.81	0.42971	D	0.99443	D	0.54397	0.966	B	0.43889	0.435	T	0.00792	-1.1564	10	0.87932	D	0	.	20.2019	0.98263	0.0:1.0:0.0:0.0	.	907	Q16825	PTN21_HUMAN	Q	907	ENSP00000330276:R907Q;ENSP00000452414:R907Q	ENSP00000330276:R907Q	R	-	2	0	PTPN21	88008492	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	4.953000	0.63624	2.776000	0.95493	0.655000	0.94253	CGG		0.368	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			15	39	0	0	0	1	0	15	39					T	88938739	C	T	88938739	3	4	435	1	0	0	0	0	1	0	0	0	12786	652	23	2	824	2	PTPN21	14	88938739	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	43007	88938739	18410801	6335	27260											
PTPN21	11099	broad.mit.edu	37	chr14	88946188	88946188	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccaccacgggccgccgCtcggcagggtaggggtaggg	5	3	19	14	5	0	0	0	0	0	0	1	0	0	0	4	6	0	4	4	6	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:88946188C>T	ENST00000556564.1	-	13	1871	c.1587G>A	c.(1585-1587)gaG>gaA	p.E529E	PTPN21_ENST00000328736.3_Silent_p.E529E	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	529					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CGGGCCGCCGCTCGGCAGGGT	0.697																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1585-1587)gaG>gaA		protein tyrosine phosphatase, non-receptor type 21							26	35	32					14																	88946188		2192	4280	6472	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88946188C>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1587G>A	14.37:g.88946188C>T						PTPN21_ENST00000328736.3_Silent_p.E529E	p.E529E	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	1871	-			529						Silent	SNP	ENST00000556564.1	37	c.1587G>A	CCDS9884.1																																																																																				0.697	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			8	38	0	0	0	1	0	8	38					T	88946188	C	T	88946188	2	4	435	1	0	0	0	0	0	0	0	1	12786	796	28	3		3	PTPN21	14	88946188	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7449	88946188	18403352	6336	27261											
C14orf102	55051	broad.mit.edu	37	chr14	90767697	90767697	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagcctgccgcagaaagtgGcactgctgaagaaagagtgc	12	5	13	11	1	0	4	0	1	0	3	0	4	0	4	3	1	4	3	3	1	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:90767697G>A	ENST00000354366.3	-	7	1663	c.1431C>T	c.(1429-1431)tgC>tgT	p.C477C	NRDE2_ENST00000357904.3_Silent_p.C246C	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	477																	GCAGAAAGTGGCACTGCTGAA	0.512																																						ENST00000354366.3																			0											c.(1429-1431)tgC>tgT		NRDE-2, necessary for RNA interference, domain containing							57	52	54					14																	90767697		2203	4300	6503	SO:0001819	synonymous_variant	55051							g.chr14:90767697G>A	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1431C>T	14.37:g.90767697G>A						NRDE2_ENST00000357904.3_Silent_p.C246C	p.C477C	NM_017970.3	NP_060440.2					7	1663	-								B4DH71|Q4G0A7|Q9NWH6	Silent	SNP	ENST00000354366.3	37	c.1431C>T	CCDS9890.1																																																																																				0.512	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		12	5	0	0	0	1	0	12	5					A	90767697	G	A	90767697	2	1	435	1	0	0	0	0	0	0	0	1	1735	1195	42	3		3	C14orf102	14	90767697	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1821509	90767697	16581843	6337	27262											
C14orf102	55051	broad.mit.edu	37	chr14	90778852	90778852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctcaagccaaacaaagCgatgtccagtatcagctgca	13	8	8	12	1	2	0	2	0	0	0	4	1	4	0	3	0	5	3	3	0	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:90778852C>T	ENST00000354366.3	-	4	675	c.443G>A	c.(442-444)cGc>cAc	p.R148H	NRDE2_ENST00000357904.3_5'UTR	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	148																	CCAAACAAAGCGATGTCCAGT	0.473																																						ENST00000354366.3																			0											c.(442-444)cGc>cAc		NRDE-2, necessary for RNA interference, domain containing							150	138	142					14																	90778852		2203	4300	6503	SO:0001583	missense	55051							g.chr14:90778852C>T	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.443G>A	14.37:g.90778852C>T	ENSP00000346335:p.Arg148His					NRDE2_ENST00000357904.3_5'UTR	p.R148H	NM_017970.3	NP_060440.2					4	675	-								B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.443G>A	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906337	0.52333	.	.	ENSG00000119720	ENST00000354366	T	0.24723	1.84	5.14	1.18	0.20946	.	0.501710	0.23803	N	0.044401	T	0.16685	0.0401	L	0.40543	1.245	0.09310	N	0.999994	B	0.11235	0.004	B	0.04013	0.001	T	0.31558	-0.9939	10	0.12103	T	0.63	-7.1808	9.1536	0.36978	0.0:0.6014:0.0:0.3986	.	148	Q9H7Z3	CN102_HUMAN	H	148	ENSP00000346335:R148H	ENSP00000346335:R148H	R	-	2	0	C14orf102	89848605	0.000000	0.05858	0.001000	0.08648	0.972000	0.66771	-0.008000	0.12788	0.257000	0.21650	0.549000	0.68633	CGC		0.473	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		6	149	0	0	0	1	0	6	149					T	90778852	C	T	90778852	3	4	435	1	0	0	0	0	1	0	0	0	1735	768	27	1	3095	1	C14orf102	14	90778852	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11155	90778852	16570688	6338	27263											
CALM1	801	broad.mit.edu	37	chr14	90870762	90870762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagcagaactacgtcacGtcatgacaaacttaggagaa	15	7	10	9	2	2	3	2	1	0	2	2	4	2	3	0	1	5	2	0	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:90870762G>A	ENST00000356978.4	+	5	573	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	CALM1_ENST00000447653.3_Missense_Mutation_p.V110I|CALM1_ENST00000553542.1_Missense_Mutation_p.V73I|RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000544280.2_Missense_Mutation_p.V73I	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	109	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	ACTACGTCACGTCATGACAAA	0.393																																						ENST00000356978.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10						c.(325-327)Gtc>Atc		calmodulin 1 (phosphorylase kinase, delta)	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)						136	124	128					14																	90870762		2203	4300	6503	SO:0001583	missense	801				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	g.chr14:90870762G>A		CCDS9892.1	14q32.11	2013-02-25			ENSG00000198668	ENSG00000198668	2.7.11.19	"EF-hand domain containing", "Endogenous ligands"	1442	protein-coding gene	gene with protein product	"prepro-calmodulin 1"	114180		CALML2		6385987	Standard	NM_006888		Approved	CAMI, PHKD, DD132	uc001xyl.2	P62158	OTTHUMG00000171044	ENST00000356978.4:c.325G>A	14.37:g.90870762G>A	ENSP00000349467:p.Val109Ile					RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000544280.2_Missense_Mutation_p.V73I|CALM1_ENST00000447653.3_Missense_Mutation_p.V110I|CALM1_ENST00000553542.1_Missense_Mutation_p.V73I	p.V109I	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN		COAD - Colon adenocarcinoma(157;0.208)	5	573	+		all_cancers(154;0.13)	109			EF-hand 3.		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	ENST00000356978.4	37	c.325G>A	CCDS9892.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651998	0.47362	.	.	ENSG00000198668	ENST00000557020;ENST00000356978;ENST00000447653;ENST00000553542;ENST00000544280	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	5.52	5.52	0.82312	EF-hand-like domain (1);	0.064498	0.64402	N	0.000014	D	0.90229	0.6945	.	.	.	0.80722	D	1	B;B	0.23735	0.09;0.09	B;B	0.30029	0.035;0.11	D	0.87543	0.2460	9	0.87932	D	0	.	19.4361	0.94796	0.0:0.0:1.0:0.0	.	110;109	E7ETZ0;P62158	.;CALM_HUMAN	I	73;109;110;73;73	ENSP00000451062:V73I;ENSP00000349467:V109I;ENSP00000403491:V110I;ENSP00000450829:V73I;ENSP00000442853:V73I	ENSP00000349467:V109I	V	+	1	0	CALM1	89940515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.808000	0.99193	2.583000	0.87209	0.555000	0.69702	GTC		0.393	CALM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411346.1			22	34	0	0	0	1	0	22	34					A	90870762	G	A	90870762	3	1	435	1	0	0	0	0	1	0	0	0	2584	1145	40	1	343	1	CALM1	14	90870762	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	91910	90870762	16478778	6339	27264											
TTC7B	145567	broad.mit.edu	37	chr14	91044611	91044611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcttcttgggtacaggCtgtggcttctgcaggcttcc	4	12	14	11	0	2	0	0	0	2	0	3	0	3	0	1	5	3	7	1	5	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:91044611C>T	ENST00000328459.6	-	19	2270	c.2149G>A	c.(2149-2151)Gcc>Acc	p.A717T	TTC7B_ENST00000357056.2_Missense_Mutation_p.A734T|TTC7B_ENST00000554654.1_5'UTR	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	717										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TGGGTACAGGCTGTGGCTTCT	0.597																																						ENST00000357056.2																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36						c.(2200-2202)Gcc>Acc		tetratricopeptide repeat domain 7B							111	96	102					14																	91044611		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91044611C>T	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2149G>A	14.37:g.91044611C>T	ENSP00000336127:p.Ala717Thr					TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000328459.6_Missense_Mutation_p.A717T	p.A734T			Q86TV6	TTC7B_HUMAN			20	2321	-		Melanoma(154;0.222)	717					Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.2200G>A	CCDS32140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.422716|4.422716	0.83559|0.83559	.|.	.|.	ENSG00000165914|ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972|ENST00000557292	T;T;T|.	0.59906|.	0.23;0.23;0.23|.	5.39|5.39	5.39|5.39	0.77823|0.77823	Protein prenyltransferase (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76147|0.76147	0.3947|0.3947	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	P;D|.	0.67145|.	0.856;0.996|.	B;D|.	0.73708|.	0.396;0.981|.	T|T	0.75110|0.75110	-0.3433|-0.3433	10|5	0.09084|.	T|.	0.74|.	-14.4977|-14.4977	19.1392|19.1392	0.93441|0.93441	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	717;734|.	Q86TV6;Q86TV6-2|.	TTC7B_HUMAN;.|.	T|N	615;734;717;204|144	ENSP00000349564:A734T;ENSP00000336127:A717T;ENSP00000451440:A204T|.	ENSP00000336127:A717T|.	A|S	-|-	1|2	0|0	TTC7B|TTC7B	90114364|90114364	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.988000|0.988000	0.76386|0.76386	7.751000|7.751000	0.85126|0.85126	2.535000|2.535000	0.85469|0.85469	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.597	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			6	20	0	0	0	1	0	6	20					T	91044611	C	T	91044611	3	4	435	1	0	0	0	0	1	0	0	0	16710	797	28	3	390	3	TTC7B	14	91044611	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	173849	91044611	16304929	6340	27265											
GPR68	8111	broad.mit.edu	37	chr14	91700554	91700554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtagagcacggggtcggCgacgcagttgaagctggtga	9	6	18	8	4	0	3	0	2	0	1	1	4	0	3	0	4	2	6	0	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:91700554C>T	ENST00000531499.2	-	2	1180	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000535815.1_Missense_Mutation_p.A281T|GPR68_ENST00000238699.3_Missense_Mutation_p.A291T			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	281					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			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)		ACGGGGTCGGCGACGCAGTTG	0.682																																						ENST00000535815.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(841-843)Gcc>Acc		G protein-coupled receptor 68							17	19	18					14																	91700554		2180	4277	6457	SO:0001583	missense	0				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:91700554C>T	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"GPCR / Class A : Orphans"	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.841G>A	14.37:g.91700554C>T	ENSP00000434045:p.Ala281Thr					GPR68_ENST00000238699.3_Missense_Mutation_p.A291T|GPR68_ENST00000531499.2_Missense_Mutation_p.A281T	p.A281T	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	1181	-		all_cancers(154;0.0555)	281					Q13334|Q4VBB4|Q6IX34	Missense_Mutation	SNP	ENST00000531499.2	37	c.841G>A	CCDS9894.2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758932	0.89843	.	.	ENSG00000119714	ENST00000531499;ENST00000238699;ENST00000535815;ENST00000529102	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.059852	0.64402	D	0.000003	T	0.64238	0.2580	M	0.83223	2.63	0.49687	D	0.99981	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63559	-0.6610	10	0.31617	T	0.26	.	18.8661	0.92293	0.0:1.0:0.0:0.0	.	281;281	Q6NWR5;Q15743	.;OGR1_HUMAN	T	281;291;281;281	ENSP00000434045:A281T;ENSP00000238699:A291T;ENSP00000440797:A281T;ENSP00000432740:A281T	ENSP00000238699:A291T	A	-	1	0	GPR68	90770307	1.000000	0.71417	0.994000	0.49952	0.955000	0.61496	5.994000	0.70623	2.457000	0.83068	0.555000	0.69702	GCC		0.682	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2			4	4	0	0	0	1	0	4	4					T	91700554	C	T	91700554	3	4	435	1	0	0	0	0	1	0	0	0	6707	768	27	1	260	1	GPR68	14	91700554	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	655943	91700554	15648986	6341	27266											
CCDC88C	440193	broad.mit.edu	37	chr14	91770187	91770187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggtcctgcagcagggcctCgtaggccgctgtaagttgct	5	10	15	11	2	0	0	0	0	0	0	2	0	1	0	3	3	3	7	3	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:91770187C>T	ENST00000389857.6	-	20	3579	c.3493G>A	c.(3493-3495)Gag>Aag	p.E1165K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1165					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGCAGGGCCTCGTAGGCCGCT	0.642																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(3493-3495)Gag>Aag		coiled-coil domain containing 88C							62	69	67					14																	91770187		2159	4261	6420	SO:0001583	missense	440193				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	g.chr14:91770187C>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3493G>A	14.37:g.91770187C>T	ENSP00000374507:p.Glu1165Lys						p.E1165K	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			20	3579	-		all_cancers(154;0.0468)	1165					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.3493G>A	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643101	0.87859	.	.	ENSG00000015133	ENST00000389857	T	0.17213	2.29	5.52	4.63	0.57726	.	0.131508	0.33364	U	0.004990	T	0.24967	0.0606	M	0.80422	2.495	0.80722	D	1	P	0.43094	0.799	B	0.36567	0.228	T	0.24977	-1.0145	10	0.72032	D	0.01	-30.8186	16.4913	0.84201	0.0:0.8628:0.1372:0.0	.	1165	Q9P219	DAPLE_HUMAN	K	1165	ENSP00000374507:E1165K	ENSP00000374507:E1165K	E	-	1	0	CCDC88C	90839940	0.216000	0.23585	0.992000	0.48379	0.939000	0.58152	1.430000	0.34914	1.459000	0.47892	0.561000	0.74099	GAG		0.642	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		18	24	0	0	0	1	0	18	24					T	91770187	C	T	91770187	3	4	435	1	0	0	0	0	1	0	0	0	2865	893	31	2	2637	2	CCDC88C	14	91770187	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	69633	91770187	15579353	6342	27267											
CCDC88C	440193	broad.mit.edu	37	chr14	91779572	91779572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctctccttctcaacggcgGacagtttggcagtgctatcg	6	11	12	12	3	2	0	1	0	2	0	5	1	2	1	1	4	2	4	1	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:91779572G>A	ENST00000389857.6	-	15	2674	c.2588C>T	c.(2587-2589)tCc>tTc	p.S863F		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	863					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCAACGGCGGACAGTTTGGC	0.622																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(2587-2589)tCc>tTc		coiled-coil domain containing 88C							113	118	117					14																	91779572		2151	4243	6394	SO:0001583	missense	440193				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	g.chr14:91779572G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2588C>T	14.37:g.91779572G>A	ENSP00000374507:p.Ser863Phe						p.S863F	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			15	2674	-		all_cancers(154;0.0468)	863					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.2588C>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386173	0.25031	.	.	ENSG00000015133	ENST00000389857	T	0.15372	2.43	5.12	3.27	0.37495	.	0.300273	0.22986	U	0.053243	T	0.19287	0.0463	M	0.61703	1.905	0.80722	D	1	P	0.37158	0.585	B	0.37198	0.243	T	0.01810	-1.1269	10	0.66056	D	0.02	-3.9927	10.0358	0.42129	0.0758:0.1504:0.7738:0.0	.	863	Q9P219	DAPLE_HUMAN	F	863	ENSP00000374507:S863F	ENSP00000374507:S863F	S	-	2	0	CCDC88C	90849325	0.999000	0.42202	0.787000	0.31911	0.019000	0.09904	3.102000	0.50291	0.544000	0.28883	0.561000	0.74099	TCC		0.622	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		39	53	0	0	0	1	0	39	53					A	91779572	G	A	91779572	3	1	435	1	0	0	0	0	1	0	0	0	2865	1174	41	3	3562	3	CCDC88C	14	91779572	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9385	91779572	15569968	6343	27268											
TRIP11	9321	broad.mit.edu	37	chr14	92470564	92470564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcactgtcaaccaaaacCtgtgcttgaagttggtgaag	12	12	9	8	0	2	2	2	2	0	0	2	2	2	2	2	1	3	2	2	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:92470564C>A	ENST00000267622.4	-	11	4129	c.3756G>T	c.(3754-3756)caG>caT	p.Q1252H		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1252					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			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)		CAACCAAAACCTGTGCTTGAA	0.413			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				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						c.(3754-3756)caG>caT		thyroid hormone receptor interactor 11							76	65	69					14																	92470564		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470564C>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3756G>T	14.37:g.92470564C>A	ENSP00000267622:p.Gln1252His						p.Q1252H	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	4129	-			1252					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3756G>T	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.490|9.490	1.100436|1.100436	0.20552|0.20552	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000554357|ENST00000267622;ENST00000542257	.|T	.|0.05258	.|3.47	5.24|5.24	-1.25|-1.25	0.09405|0.09405	.|.	.|0.061162	.|0.64402	.|D	.|0.000003	T|T	0.13114|0.13114	0.0318|0.0318	L|L	0.32530|0.32530	0.975|0.975	0.39134|0.39134	D|D	0.961907|0.961907	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.78314	.|0.943;0.991	T|T	0.00019|0.00019	-1.2365|-1.2365	5|10	.|0.56958	.|D	.|0.05	.|.	13.5502|13.5502	0.61728|0.61728	0.0:0.6469:0.0:0.3531|0.0:0.6469:0.0:0.3531	.|.	.|988;1252	.|F5H1Z0;Q15643	.|.;TRIPB_HUMAN	C|H	968|1252;988	.|ENSP00000267622:Q1252H	.|ENSP00000267622:Q1252H	G|Q	-|-	1|3	0|2	TRIP11|TRIP11	91540317|91540317	0.999000|0.999000	0.42202|0.42202	0.268000|0.268000	0.24571|0.24571	0.166000|0.166000	0.22503|0.22503	0.717000|0.717000	0.25851|0.25851	-0.548000|-0.548000	0.06199|0.06199	-0.693000|-0.693000	0.03709|0.03709	GGT|CAG		0.413	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			21	22	1	0	1.50039e-11	1	1.61536e-11	21	22					A	92470564	C	A	92470564	3	1	435	1	0	0	0	0	1	0	0	0	16552	680	24	5	2227	5	TRIP11	14	92470564	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	690992	92470564	14878976	6344	27269											
TRIP11	9321	broad.mit.edu	37	chr14	92472075	92472075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggtattcaaattacgtgCatttgacagttcttcaatgg	12	14	9	6	1	3	2	2	1	1	1	3	2	3	2	0	2	2	3	0	2	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:92472075C>T	ENST00000267622.4	-	11	2618	c.2245G>A	c.(2245-2247)Gca>Aca	p.A749T		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	749					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			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)		AAATTACGTGCATTTGACAGT	0.358			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				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						c.(2245-2247)Gca>Aca		thyroid hormone receptor interactor 11							212	214	213					14																	92472075		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92472075C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2245G>A	14.37:g.92472075C>T	ENSP00000267622:p.Ala749Thr						p.A749T	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	2618	-			749					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2245G>A	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.375|9.375	1.071414|1.071414	0.20147|0.20147	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.08370|.	3.1|.	5.96|5.96	4.13|4.13	0.48395|0.48395	.|.	0.105029|.	0.64402|.	N|.	0.000005|.	T|T	0.69993|0.69993	0.3173|0.3173	M|M	0.68593|0.68593	2.085|2.085	0.49051|0.49051	D|D	0.999745|0.999745	B;B|.	0.30114|.	0.232;0.269|.	B;B|.	0.29176|.	0.099;0.088|.	T|T	0.68273|0.68273	-0.5452|-0.5452	10|5	0.16896|.	T|.	0.51|.	.|.	12.9466|12.9466	0.58375|0.58375	0.0:0.8675:0.0:0.1325|0.0:0.8675:0.0:0.1325	.|.	485;749|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	T|Y	749;485|464	ENSP00000267622:A749T|.	ENSP00000267622:A749T|.	A|C	-|-	1|2	0|0	TRIP11|TRIP11	91541828|91541828	0.993000|0.993000	0.37304|0.37304	0.006000|0.006000	0.13384|0.13384	0.002000|0.002000	0.02628|0.02628	3.114000|3.114000	0.50383|0.50383	0.840000|0.840000	0.34995|0.34995	0.585000|0.585000	0.79938|0.79938	GCA|TGC		0.358	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			56	90	0	0	0	1	0	56	90					T	92472075	C	T	92472075	3	4	435	1	0	0	0	0	1	0	0	0	16552	710	25	3	3738	3	TRIP11	14	92472075	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1511	92472075	14877465	6345	27270											
TRIP11	9321	broad.mit.edu	37	chr14	92472518	92472518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaaattctccttctggatgCttacattactttcttgtgat	8	19	5	9	0	3	1	0	1	3	0	4	2	3	2	1	1	3	1	1	1	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:92472518C>T	ENST00000267622.4	-	11	2175	c.1802G>A	c.(1801-1803)aGc>aAc	p.S601N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	601					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			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)		CTTCTGGATGCTTACATTACT	0.338			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				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						c.(1801-1803)aGc>aAc		thyroid hormone receptor interactor 11							102	100	101					14																	92472518		2202	4296	6498	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92472518C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1802G>A	14.37:g.92472518C>T	ENSP00000267622:p.Ser601Asn						p.S601N	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	2175	-			601					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.1802G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.179718	0.00308	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.04049	3.72	6.16	-2.23	0.06930	.	0.692726	0.16046	N	0.232161	T	0.01489	0.0048	N	0.00729	-1.24	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.45789	-0.9237	10	0.11485	T	0.65	.	14.6499	0.68789	0.0:0.5559:0.0:0.4441	.	337;601	F5H1Z0;Q15643	.;TRIPB_HUMAN	N	601;337	ENSP00000267622:S601N	ENSP00000267622:S601N	S	-	2	0	TRIP11	91542271	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.289000	0.18957	-0.628000	0.05582	-0.355000	0.07637	AGC		0.338	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			14	28	0	0	0	1	0	14	28					T	92472518	C	T	92472518	3	4	435	1	0	0	0	0	1	0	0	0	16552	797	28	3	4181	3	TRIP11	14	92472518	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	443	92472518	14877022	6346	27271											
TRIP11	9321	broad.mit.edu	37	chr14	92477386	92477386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacttcgatacgcattttaaGtttcagattgtcttcagcaa	12	15	6	8	2	3	1	2	0	1	1	4	2	3	1	0	0	3	3	0	0	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:92477386G>A	ENST00000267622.4	-	9	1631	c.1258C>T	c.(1258-1260)Ctt>Ttt	p.L420F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	420					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			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)		CGCATTTTAAGTTTCAGATTG	0.338			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				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						c.(1258-1260)Ctt>Ttt		thyroid hormone receptor interactor 11							129	115	119					14																	92477386		2203	4299	6502	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92477386G>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1258C>T	14.37:g.92477386G>A	ENSP00000267622:p.Leu420Phe						p.L420F	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	9	1631	-			420					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.1258C>T	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738381	0.49045	.	.	ENSG00000100815	ENST00000267622	T	0.64260	-0.09	5.67	4.78	0.61160	.	0.246154	0.35585	N	0.003111	T	0.51822	0.1697	L	0.48362	1.52	0.37023	D	0.89629	P	0.37864	0.61	B	0.37780	0.258	T	0.54892	-0.8225	10	0.22109	T	0.4	.	9.0298	0.36252	0.1684:0.0:0.8316:0.0	.	420	Q15643	TRIPB_HUMAN	F	420	ENSP00000267622:L420F	ENSP00000267622:L420F	L	-	1	0	TRIP11	91547139	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	2.666000	0.46799	1.525000	0.49052	0.655000	0.94253	CTT		0.338	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			19	37	0	0	0	1	0	19	37					A	92477386	G	A	92477386	3	1	435	1	0	0	0	0	1	0	0	0	16552	1029	36	3	4733	3	TRIP11	14	92477386	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4868	92477386	14872154	6347	27272											
LGMN	5641	broad.mit.edu	37	chr14	93182559	93182559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcaaggaaattttgtgggGtaacatcctacaaagaatta	16	10	9	6	0	0	1	0	0	0	1	1	2	1	2	1	3	3	2	1	3	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:93182559G>A	ENST00000393218.2	-	6	663	c.326C>T	c.(325-327)aCc>aTc	p.T109I	LGMN_ENST00000557434.1_Missense_Mutation_p.T109I|LGMN_ENST00000555699.1_Missense_Mutation_p.T109I|LGMN_ENST00000334869.4_Missense_Mutation_p.T109I	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	109					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		ATTTTGTGGGGTAACATCCTA	0.507																																						ENST00000393218.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18						c.(325-327)aCc>aTc		legumain							122	109	114					14																	93182559		2203	4300	6503	SO:0001583	missense	5641				hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity	g.chr14:93182559G>A	D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"protease, cysteine, 1 (legumain)"	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.326C>T	14.37:g.93182559G>A	ENSP00000376911:p.Thr109Ile					LGMN_ENST00000555699.1_Missense_Mutation_p.T109I|LGMN_ENST00000334869.4_Missense_Mutation_p.T109I|LGMN_ENST00000557434.1_Missense_Mutation_p.T109I	p.T109I	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	6	663	-		all_cancers(154;0.0706)	109					O00123|Q86TV2|Q86TV3|Q9BTY1	Missense_Mutation	SNP	ENST00000393218.2	37	c.326C>T	CCDS9904.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.80|17.80	3.478641|3.478641	0.63849|0.63849	.|.	.|.	ENSG00000100600|ENSG00000100600	ENST00000555169|ENST00000555699;ENST00000334869;ENST00000557434;ENST00000334864;ENST00000262004;ENST00000393218;ENST00000539531;ENST00000535855;ENST00000553802	.|T;T;T;T;T	.|0.55052	.|0.55;0.54;0.58;0.54;0.61	5.51|5.51	4.61|4.61	0.57282|0.57282	.|.	.|0.043164	.|0.85682	.|D	.|0.000000	T|T	0.82024|0.82024	0.4947|0.4947	H|H	0.97516|0.97516	4.02|4.02	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.993;0.994;0.999	.|D;D;D	.|0.79108	.|0.992;0.974;0.992	D|D	0.89023|0.89023	0.3436|0.3436	5|10	.|0.87932	.|D	.|0	-37.803|-37.803	15.6788|15.6788	0.77352|0.77352	0.0:0.0:0.8616:0.1384|0.0:0.0:0.8616:0.1384	.|.	.|109;109;109	.|Q99538;Q86TV2;Q86TV3	.|LGMN_HUMAN;.;.	S|I	30|109;109;109;109;109;109;86;74;100	.|ENSP00000451861:T109I;ENSP00000334052:T109I;ENSP00000452572:T109I;ENSP00000376911:T109I;ENSP00000450854:T100I	.|ENSP00000262004:T109I	P|T	-|-	1|2	0|0	LGMN|LGMN	92252312|92252312	1.000000|1.000000	0.71417|0.71417	0.741000|0.741000	0.31004|0.31004	0.459000|0.459000	0.32528|0.32528	7.152000|7.152000	0.77419|0.77419	1.464000|1.464000	0.47987|0.47987	0.655000|0.655000	0.94253|0.94253	CCC|ACC		0.507	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606		41	73	0	0	0	1	0	41	73					A	93182559	G	A	93182559	3	1	435	1	0	0	0	0	1	0	0	0	8755	1261	44	3	1015	3	LGMN	14	93182559	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	705173	93182559	14166981	6348	27273											
GOLGA5	9950	broad.mit.edu	37	chr14	93303736	93303736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtctgcacagtattcGcctgggaatttttctccgaa	7	14	9	11	2	2	0	0	0	2	0	4	2	2	1	3	1	1	2	3	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:93303736G>A	ENST00000163416.2	+	12	2313	c.2057G>A	c.(2056-2058)cGc>cAc	p.R686H	GOLGA5_ENST00000355976.2_Intron	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	686					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CACAGTATTCGCCTGGGAATT	0.363			T	RET	papillary thyroid																																	ENST00000163416.2				Dom	yes		14	14q	9950	T	"golgi autoantigen, golgin subfamily a, 5  (PTC5)"			E	RET		papillary thyroid		0				large_intestine(6)|lung(1)|ovary(2)	9						c.(2056-2058)cGc>cAc		golgin A5							127	139	135					14																	93303736		2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93303736G>A	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"golgi integral membrane protein 5"	606918	"golgi autoantigen, golgin subfamily a, 5"			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.2057G>A	14.37:g.93303736G>A	ENSP00000163416:p.Arg686His					GOLGA5_ENST00000355976.2_Intron	p.R686H	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	12	2313	+		all_cancers(154;0.0934)	686					C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.2057G>A	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710779	0.89112	.	.	ENSG00000066455	ENST00000163416;ENST00000439315	T	0.62364	0.03	5.4	5.4	0.78164	.	0.000000	0.47852	D	0.000218	T	0.81403	0.4815	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83427	0.0036	10	0.59425	D	0.04	-10.3798	18.174	0.89756	0.0:0.0:1.0:0.0	.	686	Q8TBA6	GOGA5_HUMAN	H	686;595	ENSP00000163416:R686H	ENSP00000163416:R686H	R	+	2	0	GOLGA5	92373489	1.000000	0.71417	0.997000	0.53966	0.726000	0.41606	9.051000	0.93849	2.510000	0.84645	0.650000	0.86243	CGC		0.363	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			90	144	0	0	0	1	0	90	144					A	93303736	G	A	93303736	3	1	435	1	0	0	0	0	1	0	0	0	6556	1087	38	1	2099	1	GOLGA5	14	93303736	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	121177	93303736	14045804	6349	27274											
C14orf109	64112	broad.mit.edu	37	chr14	93653013	93653013	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactacaactgattgacacGtaaaatcagtcaccgttttt	14	12	6	9	2	2	3	2	2	0	1	2	3	2	3	1	0	2	2	1	0	4	5	rs535664901		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:93653013G>A	ENST00000556883.1	-	0	0				TMEM251_ENST00000415050.2_Silent_p.T169T|RP11-371E8.4_ENST00000557574.1_Intron|MOAP1_ENST00000298894.4_5'Flank|TMEM251_ENST00000283534.4_Silent_p.T131T|RP11-371E8.4_ENST00000557048.1_Intron			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1						apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			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)		TGATTGACACGTAAAATCAGT	0.428																																						ENST00000415050.2																			0											c.(505-507)acG>acA		transmembrane protein 251							109	102	105					14																	93653013		1905	4139	6044	SO:0001631	upstream_gene_variant	26175							g.chr14:93653013G>A	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184		14.37:g.93653013G>A	Exception_encountered					RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron|TMEM251_ENST00000283534.4_Silent_p.T131T	p.T169T	NM_001098621.1	NP_001092091.1					2	882	+								B2RDF6|Q9H833|Q9HAS1	Silent	SNP	ENST00000556883.1	37	c.507G>A	CCDS9908.1																																																																																				0.428	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			48	69	0	0	0	1	0	48	69					A	93653013	G	A	93653013	1	1	435	0	1	0	0	0	0	0	0	0	1739	1132	40	1		1	C14orf109	14	93653013	5'Flank	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	349277	93653013	13696527	6350	27275											
KIAA1409	57578	broad.mit.edu	37	chr14	94088324	94088324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtcataccagaggttaGgttaaactgtatggagactt	11	12	11	7	0	1	2	1	0	0	2	1	3	1	2	2	3	2	3	2	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:94088324G>T	ENST00000393151.2	+	30	4745	c.4745G>T	c.(4744-4746)aGg>aTg	p.R1582M	UNC79_ENST00000553484.1_Missense_Mutation_p.R1604M|UNC79_ENST00000555664.1_Missense_Mutation_p.R1582M|UNC79_ENST00000256339.4_Missense_Mutation_p.R1405M			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1582					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCAGAGGTTAGGTTAAACTGT	0.473																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(4810-4812)aGg>aTg		unc-79 homolog (C. elegans)							73	77	75					14																	94088324		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088324G>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4745G>T	14.37:g.94088324G>T	ENSP00000376858:p.Arg1582Met					UNC79_ENST00000393151.2_Missense_Mutation_p.R1582M|UNC79_ENST00000555664.1_Missense_Mutation_p.R1582M|UNC79_ENST00000256339.4_Missense_Mutation_p.R1405M	p.R1604M			Q9P2D8	UNC79_HUMAN			31	4965	+			1582					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.4811G>T		.	.	.	.	.	.	.	.	.	.	G	13.97	2.394926	0.42512	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.32515	1.51;1.45;1.52;1.51	5.98	5.98	0.97165	.	0.046390	0.85682	D	0.000000	T	0.48943	0.1528	L	0.32530	0.975	0.49213	D	0.999769	D	0.89917	1.0	D	0.85130	0.997	T	0.42899	-0.9424	10	0.72032	D	0.01	-21.9133	20.4561	0.99145	0.0:0.0:1.0:0.0	.	1604	C9JQL1	.	M	1405;1582;1604;1582;1604	ENSP00000256339:R1405M;ENSP00000450868:R1582M;ENSP00000451360:R1604M;ENSP00000376858:R1582M	ENSP00000256339:R1405M	R	+	2	0	KIAA1409	93158077	1.000000	0.71417	0.773000	0.31616	0.037000	0.13140	9.476000	0.97823	2.847000	0.97988	0.591000	0.81541	AGG		0.473	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		24	55	1	0	3.01185e-09	1	3.19065e-09	24	55					T	94088324	G	T	94088324	3	4	435	1	0	0	0	0	1	0	0	0	8230	1000	35	5	4320	5	KIAA1409	14	94088324	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	435311	94088324	13261216	6351	27276											
DDX24	57062	broad.mit.edu	37	chr14	94528809	94528809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcaatgcatcagactcagCttcagccttgcctggtgatc	9	10	10	12	0	3	2	3	1	0	1	4	2	3	2	2	2	4	3	2	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:94528809C>T	ENST00000330836.5	-	3	1008	c.877G>A	c.(877-879)Gct>Act	p.A293T	DDX24_ENST00000544005.1_Missense_Mutation_p.A43T|DDX24_ENST00000555054.1_Missense_Mutation_p.A250T	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	293	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TCAGACTCAGCTTCAGCCTTG	0.552																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(877-879)Gct>Act		DEAD (Asp-Glu-Ala-Asp) box helicase 24							138	113	121					14																	94528809		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94528809C>T	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"DEAD-boxes"	13266	protein-coding gene	gene with protein product		606181	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.877G>A	14.37:g.94528809C>T	ENSP00000328690:p.Ala293Thr					DDX24_ENST00000544005.1_Missense_Mutation_p.A43T|DDX24_ENST00000555054.1_Missense_Mutation_p.A250T	p.A293T	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	3	1008	-		all_cancers(154;0.12)	293			Helicase ATP-binding.		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.877G>A	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294375	0.23564	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000555054;ENST00000542247	T;T;T	0.03441	4.0;3.93;4.0	4.96	-7.55	0.01327	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.948760	0.08817	N	0.889311	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49560	-0.8927	10	0.07990	T	0.79	-32.2688	8.6238	0.33877	0.0:0.4715:0.2222:0.3063	.	293	Q9GZR7	DDX24_HUMAN	T	293;43;238;250;250	ENSP00000328690:A293T;ENSP00000440623:A43T;ENSP00000452145:A250T	ENSP00000328690:A293T	A	-	1	0	DDX24	93598562	0.000000	0.05858	0.000000	0.03702	0.528000	0.34623	-0.244000	0.08903	-1.218000	0.02601	-0.290000	0.09829	GCT		0.552	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		22	37	0	0	0	1	0	22	37					T	94528809	C	T	94528809	3	4	435	1	0	0	0	0	1	0	0	0	4351	797	28	3	1730	3	DDX24	14	94528809	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	440485	94528809	12820731	6352	27277											
SERPINA9	327657	broad.mit.edu	37	chr14	94935863	94935863	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggatggcagactctggTgtgtgtgtgaggttgaagcc	6	12	18	5	0	1	3	0	2	1	1	1	4	1	4	1	5	1	2	1	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:94935863T>C	ENST00000380365.3	-	2	393	c.315A>G	c.(313-315)acA>acG	p.T105T	SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000337425.5_Silent_p.T123T|SERPINA9_ENST00000448305.2_Silent_p.T25T|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000546329.1_Silent_p.T87T			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	105					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CAGACTCTGGTGTGTGTGTGA	0.577																																						ENST00000337425.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(367-369)acA>acG		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9							103	108	107					14																	94935863		2139	4256	6395	SO:0001819	synonymous_variant	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94935863T>C	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.315A>G	14.37:g.94935863T>C						SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000380365.3_Silent_p.T105T|SERPINA9_ENST00000448305.2_Silent_p.T25T|SERPINA9_ENST00000546329.1_Silent_p.T87T	p.T123T	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	443	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	105					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Silent	SNP	ENST00000380365.3	37	c.369A>G																																																																																					0.577	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		27	38	0	0	0	1	0	27	38					C	94935863	T	C	94935863	2	2	435	1	0	0	0	0	0	0	0	1	14095	1683	59	4		4	SERPINA9	14	94935863	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	407054	94935863	12413677	6353	27278											
DICER1	23405	broad.mit.edu	37	chr14	95571527	95571527	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgctggggagacaaacagcTtttctccacagtgatgctgg	10	10	12	9	0	1	2	0	1	1	1	2	3	1	2	1	3	4	3	1	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:95571527T>C	ENST00000526495.1	-	22	3441	c.3150A>G	c.(3148-3150)aaA>aaG	p.K1050K	DICER1_ENST00000527414.1_Silent_p.K1050K|DICER1_ENST00000556045.1_5'UTR|DICER1_ENST00000541352.1_Silent_p.K1050K|DICER1_ENST00000393063.1_Silent_p.K1050K|DICER1_ENST00000343455.3_Silent_p.K1050K			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1050					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GACAAACAGCTTTTCTCCACA	0.478			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(3148-3150)aaA>aaG		dicer 1, ribonuclease type III							155	156	156					14																	95571527		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	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	g.chr14:95571527T>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3150A>G	14.37:g.95571527T>C						DICER1_ENST00000343455.3_Silent_p.K1050K|DICER1_ENST00000556045.1_5'UTR|DICER1_ENST00000393063.1_Silent_p.K1050K|DICER1_ENST00000527414.1_Silent_p.K1050K|DICER1_ENST00000541352.1_Silent_p.K1050K	p.K1050K			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	22	3441	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1050					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	c.3150A>G	CCDS9931.1																																																																																				0.478	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			45	69	0	0	0	1	0	45	69					C	95571527	T	C	95571527	2	2	435	1	0	0	0	0	0	0	0	1	4521	1606	56	4		4	DICER1	14	95571527	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	635664	95571527	11778013	6354	27279											
BDKRB2	624	broad.mit.edu	37	chr14	96706996	96706996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatcctggcctgcgggctgCccttctgggccatcaccatc	4	10	11	16	1	2	1	1	1	1	0	4	1	3	1	5	3	2	1	5	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:96706996C>T	ENST00000306005.3	+	3	527	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S	BDKRB2_ENST00000542454.2_Missense_Mutation_p.P84S|BDKRB2_ENST00000554311.1_Missense_Mutation_p.P111S|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Missense_Mutation_p.P84S	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	111					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	CTGCGGGCTGCCCTTCTGGGC	0.597																																						ENST00000542454.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24						c.(250-252)Ccc>Tcc		bradykinin receptor B2							116	117	116					14																	96706996		2203	4300	6503	SO:0001583	missense	0				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	g.chr14:96706996C>T	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"GPCR / Class A : Bradykinin receptors"	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.331C>T	14.37:g.96706996C>T	ENSP00000307713:p.Pro111Ser					RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Missense_Mutation_p.P111S|BDKRB2_ENST00000306005.3_Missense_Mutation_p.P111S|BDKRB2_ENST00000539359.1_Missense_Mutation_p.P84S	p.P84S			P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	3	3338	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	111						Missense_Mutation	SNP	ENST00000306005.3	37	c.250C>T	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658546	0.88154	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89708	0.6793	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93474	0.6821	10	0.87932	D	0	-35.3079	17.9557	0.89068	0.0:1.0:0.0:0.0	.	111	P30411	BKRB2_HUMAN	S	84;111;111;84	ENSP00000439459:P84S;ENSP00000450482:P111S;ENSP00000307713:P111S;ENSP00000438376:P84S	ENSP00000307713:P111S	P	+	1	0	BDKRB2	95776749	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.684000	0.84104	2.317000	0.78254	0.561000	0.74099	CCC		0.597	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			39	66	0	0	0	1	0	39	66					T	96706996	C	T	96706996	3	4	435	1	0	0	0	0	1	0	0	0	1393	739	26	3	337	3	BDKRB2	14	96706996	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1135469	96706996	10642544	6355	27280											
ATG2B	55102	broad.mit.edu	37	chr14	96768374	96768374	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggcggagcggcatcagCgacactctcaagcagcactc	10	6	12	13	3	2	1	2	1	1	0	4	3	2	2	0	3	4	3	0	3	1	1	rs368514043		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:96768374C>T	ENST00000359933.4	-	34	6002	c.5109G>A	c.(5107-5109)tcG>tcA	p.S1703S	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1703					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				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)		GCGGCATCAGCGACACTCTCA	0.458																																						ENST00000359933.4																			0				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						c.(5107-5109)tcG>tcA		autophagy related 2B		C		0,4406		0,0,2203	88	75	80		5109	-11.5	0.1	14		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATG2B	NM_018036.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1703/2079	96768374	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55102							g.chr14:96768374C>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5109G>A	14.37:g.96768374C>T						ATG2B_ENST00000261834.5_5'UTR	p.S1703S	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	34	6002	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1703					Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	c.5109G>A	CCDS9944.2																																																																																				0.458	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		9	25	0	0	0	1	0	9	25					T	96768374	C	T	96768374	2	4	435	1	0	0	0	0	0	0	0	1	1094	755	27	1		1	ATG2B	14	96768374	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	61378	96768374	10581166	6356	27281											
ATG2B	55102	broad.mit.edu	37	chr14	96829259	96829259	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagtggcccaggtacctctGcaggaggtaccggcaggccc	9	5	14	13	1	1	0	0	0	1	0	1	1	1	1	4	6	3	4	4	6	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:96829259G>A	ENST00000359933.4	-	1	948	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	GSKIP_ENST00000556095.1_5'Flank|GSKIP_ENST00000555181.1_5'Flank|GSKIP_ENST00000554182.1_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	19					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				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)		AGGTACCTCTGCAGGAGGTAC	0.642																																						ENST00000359933.4																			0				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						c.(55-57)Cag>Tag		autophagy related 2B							54	56	56					14																	96829259		2000	4173	6173	SO:0001587	stop_gained	55102							g.chr14:96829259G>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.55C>T	14.37:g.96829259G>A	ENSP00000353010:p.Gln19*						p.Q19*	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	1	948	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	19					Q6ZRE7|Q96DQ3|Q9NW80	Nonsense_Mutation	SNP	ENST00000359933.4	37	c.55C>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	46	12.394861	0.99664	.	.	ENSG00000066739	ENST00000359933	.	.	.	4.16	4.16	0.48862	.	0.086607	0.47852	U	0.000217	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	16.6334	0.85040	0.0:0.0:1.0:0.0	.	.	.	.	X	19	.	ENSP00000353010:Q19X	Q	-	1	0	ATG2B	95899012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.731000	0.91529	2.149000	0.67028	0.491000	0.48974	CAG		0.642	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		22	47	0	0	0	1	0	22	47					A	96829259	G	A	96829259	4	1	435	1	0	0	0	0	0	1	0	0	1094	1328	46	3	6349	3	ATG2B	14	96829259	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	60885	96829259	10520281	6357	27282											
AK7	122481	broad.mit.edu	37	chr14	96875259	96875259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacggtgatgacttgggcgcGctccaaagccctggaccccg	7	6	14	14	4	0	2	0	2	0	0	1	4	1	3	4	3	1	1	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:96875259G>A	ENST00000267584.4	+	4	523	c.479G>A	c.(478-480)cGc>cAc	p.R160H	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	160					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			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)		ACTTGGGCGCGCTCCAAAGCC	0.478																																						ENST00000267584.4																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(478-480)cGc>cAc		adenylate kinase 7							82	80	80					14																	96875259		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96875259G>A	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.479G>A	14.37:g.96875259G>A	ENSP00000267584:p.Arg160His					AK7_ENST00000554313.1_3'UTR	p.R160H	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	4	523	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	160					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.479G>A	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686357	0.47991	.	.	ENSG00000140057	ENST00000267584	T	0.56611	0.45	5.1	5.1	0.69264	NAD(P)-binding domain (1);	0.675264	0.14346	N	0.325382	T	0.63212	0.2492	M	0.71581	2.175	0.80722	D	1	D	0.60575	0.988	P	0.50049	0.629	T	0.67393	-0.5682	10	0.66056	D	0.02	-13.3972	15.7785	0.78242	0.0:0.0:1.0:0.0	.	160	Q96M32	KAD7_HUMAN	H	160	ENSP00000267584:R160H	ENSP00000267584:R160H	R	+	2	0	AK7	95945012	0.012000	0.17670	0.151000	0.22473	0.074000	0.17049	1.866000	0.39489	2.535000	0.85469	0.655000	0.94253	CGC		0.478	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			18	13	0	0	0	1	0	18	13					A	96875259	G	A	96875259	3	1	435	1	0	0	0	0	1	0	0	0	444	1087	38	1	493	1	AK7	14	96875259	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	46000	96875259	10474281	6358	27283											
VRK1	7443	broad.mit.edu	37	chr14	97322895	97322895	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattgcaagtttgatggaCaaatgttttcctgagaaaaa	16	13	8	4	0	0	2	0	2	0	1	1	4	1	3	1	1	1	3	1	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:97322895C>T	ENST00000216639.3	+	10	1010	c.861C>T	c.(859-861)gaC>gaT	p.D287D		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	287	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		GTTTGATGGACAAATGTTTTC	0.308																																						ENST00000216639.3																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12						c.(859-861)gaC>gaT		vaccinia related kinase 1							53	57	56					14																	97322895		2203	4299	6502	SO:0001819	synonymous_variant	7443					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:97322895C>T	AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.861C>T	14.37:g.97322895C>T							p.D287D	NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN		COAD - Colon adenocarcinoma(157;0.234)	10	1010	+		Melanoma(154;0.155)	287			Protein kinase.		Q3SYL2	Silent	SNP	ENST00000216639.3	37	c.861C>T	CCDS9947.1	.	.	.	.	.	.	.	.	.	.	C	8.151	0.787420	0.16258	.	.	ENSG00000100749	ENST00000557222;ENST00000557352	.	.	.	5.58	-0.686	0.11324	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.363	1.809	0.03087	0.4379:0.2667:0.1126:0.1828	.	.	.	.	X	144;69	.	.	Q	+	1	0	VRK1	96392648	0.892000	0.30473	0.970000	0.41538	0.886000	0.51366	-0.052000	0.11865	-0.467000	0.06932	-0.188000	0.12872	CAA		0.308	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413520.1	NM_003384		10	23	0	0	0	1	0	10	23					T	97322895	C	T	97322895	2	4	435	1	0	0	0	0	0	0	0	1	17216	477	17	3		3	VRK1	14	97322895	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	447636	97322895	10026645	6359	27284											
BCL11B	64919	broad.mit.edu	37	chr14	99640796	99640796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcacgtgtcgctgcggcGgccctccttggagctgggcc	2	8	15	16	5	0	0	0	0	0	0	3	1	1	1	3	4	2	3	3	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:99640796G>A	ENST00000357195.3	-	4	2386	c.2377C>T	c.(2377-2379)Cgc>Tgc	p.R793C	BCL11B_ENST00000345514.2_Missense_Mutation_p.R722C|BCL11B_ENST00000443726.2_Missense_Mutation_p.R599C	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	793					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TCGCTGCGGCGGCCCTCCTTG	0.736			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(2164-2166)Cgc>Tgc		B-cell CLL/lymphoma 11B (zinc finger protein)							12	12	12					14																	99640796		2182	4250	6432	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99640796G>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2377C>T	14.37:g.99640796G>A	ENSP00000349723:p.Arg793Cys					BCL11B_ENST00000357195.3_Missense_Mutation_p.R793C|BCL11B_ENST00000443726.2_Missense_Mutation_p.R599C	p.R722C	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	2430	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	793					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.2164C>T	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098168	0.56183	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.13901	2.57;2.57;2.55	4.48	4.48	0.54585	.	0.104565	0.37053	N	0.002280	T	0.34861	0.0912	M	0.71581	2.175	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	T	0.09773	-1.0659	10	0.87932	D	0	-15.2137	12.601	0.56497	0.0:0.0:0.8339:0.1661	.	722;793	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	C	793;722;599	ENSP00000349723:R793C;ENSP00000280435:R722C;ENSP00000387419:R599C	ENSP00000280435:R722C	R	-	1	0	BCL11B	98710549	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	3.767000	0.55288	2.205000	0.71048	0.561000	0.74099	CGC		0.736	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		5	3	0	0	0	1	0	5	3					A	99640796	G	A	99640796	3	1	435	1	0	0	0	0	1	0	0	0	1364	1116	39	2	311	2	BCL11B	14	99640796	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2317901	99640796	7708744	6360	27285											
BCL11B	64919	broad.mit.edu	37	chr14	99641123	99641123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgatgcgcttggcggCgctgttgagcccggggctgg	3	9	17	12	4	0	2	0	2	0	0	0	2	0	2	2	5	2	4	2	5	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:99641123C>T	ENST00000357195.3	-	4	2059	c.2050G>A	c.(2050-2052)Gcc>Acc	p.A684T	BCL11B_ENST00000345514.2_Missense_Mutation_p.A613T|BCL11B_ENST00000443726.2_Missense_Mutation_p.A490T	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	684					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGCTTGGCGGCGCTGTTGAGC	0.741			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1837-1839)Gcc>Acc		B-cell CLL/lymphoma 11B (zinc finger protein)							17	15	15					14																	99641123		2171	4236	6407	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99641123C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2050G>A	14.37:g.99641123C>T	ENSP00000349723:p.Ala684Thr					BCL11B_ENST00000357195.3_Missense_Mutation_p.A684T|BCL11B_ENST00000443726.2_Missense_Mutation_p.A490T	p.A613T	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	2103	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	684			Gly-rich.		Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.1837G>A	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	c	1.220	-0.627240	0.03610	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.10763	2.84;2.85;2.84	3.73	1.36	0.22044	.	1.346980	0.05027	N	0.473911	T	0.04588	0.0125	N	0.02011	-0.69	0.30926	N	0.727498	B;B	0.27559	0.017;0.181	B;B	0.21360	0.021;0.034	T	0.36335	-0.9752	10	0.21014	T	0.42	-7.6932	10.3192	0.43756	0.6748:0.3252:0.0:0.0	.	613;684	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	T	684;613;490	ENSP00000349723:A684T;ENSP00000280435:A613T;ENSP00000387419:A490T	ENSP00000280435:A613T	A	-	1	0	BCL11B	98710876	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.027000	0.49697	0.689000	0.31550	-0.217000	0.12591	GCC		0.741	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		9	20	0	0	0	1	0	9	20					T	99641123	C	T	99641123	3	4	435	1	0	0	0	0	1	0	0	0	1364	768	27	1	638	1	BCL11B	14	99641123	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	327	99641123	7708417	6361	27286											
BCL11B	64919	broad.mit.edu	37	chr14	99697813	99697813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcgcccagggcacgcagaGgtgaagtgatcacggatgag	11	4	17	9	3	1	4	1	3	0	1	1	6	1	5	1	3	1	2	1	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:99697813G>A	ENST00000357195.3	-	3	518	c.509C>T	c.(508-510)cCt>cTt	p.P170L	BCL11B_ENST00000345514.2_Intron|BCL11B_ENST00000443726.2_Intron	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	170					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGCACGCAGAGGTGAAGTGAT	0.682			T	TLX3	T-ALL																																	ENST00000357195.3				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(508-510)cCt>cTt		B-cell CLL/lymphoma 11B (zinc finger protein)							28	33	32					14																	99697813		2192	4298	6490	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99697813G>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.509C>T	14.37:g.99697813G>A	ENSP00000349723:p.Pro170Leu					BCL11B_ENST00000345514.2_Intron|BCL11B_ENST00000443726.2_Intron	p.P170L	NM_138576.2	NP_612808.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	518	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	170					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.509C>T	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211051	0.58343	.	.	ENSG00000127152	ENST00000357195	T	0.70631	-0.5	5.42	5.42	0.78866	.	0.370207	0.21437	U	0.074543	T	0.79021	0.4376	L	0.39898	1.24	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.78563	-0.2156	10	0.48119	T	0.1	-2.2768	17.4191	0.87510	0.0:0.0:1.0:0.0	.	170	Q9C0K0	BC11B_HUMAN	L	170	ENSP00000349723:P170L	ENSP00000349723:P170L	P	-	2	0	BCL11B	98767566	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.868000	0.69605	2.543000	0.85770	0.650000	0.86243	CCT		0.682	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		3	4	0	0	0	1	0	3	4					A	99697813	G	A	99697813	3	1	435	1	0	0	0	0	1	0	0	0	1364	1000	35	3	2183	3	BCL11B	14	99697813	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	56690	99697813	7651727	6362	27287											
SETD3	84193	broad.mit.edu	37	chr14	99865060	99865060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgaagaagatcctttggCgtcttcaactgctcttttac	8	15	8	10	1	4	3	1	1	3	2	5	3	5	3	1	1	3	1	1	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:99865060C>T	ENST00000331768.5	-	13	1900	c.1741G>A	c.(1741-1743)Gcc>Acc	p.A581T		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	581					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GATCCTTTGGCGTCTTCAACT	0.488																																						ENST00000331768.5																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1741-1743)Gcc>Acc		SET domain containing 3							182	167	172					14																	99865060		2203	4300	6503	SO:0001583	missense	84193				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	g.chr14:99865060C>T	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"chromosome 14 open reading frame 154"	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1741G>A	14.37:g.99865060C>T	ENSP00000327436:p.Ala581Thr						p.A581T	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN			13	1900	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	581					A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	c.1741G>A	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.143886	0.37825	.	.	ENSG00000183576	ENST00000331768	T	0.14391	2.51	4.91	3.01	0.34805	.	0.399428	0.27016	N	0.021358	T	0.12263	0.0298	L	0.47716	1.5	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.08229	-1.0732	10	0.30854	T	0.27	-17.9688	10.0496	0.42208	0.0:0.83:0.0:0.17	.	581	Q86TU7	SETD3_HUMAN	T	581	ENSP00000327436:A581T	ENSP00000327436:A581T	A	-	1	0	SETD3	98934813	1.000000	0.71417	0.424000	0.26647	0.866000	0.49608	2.459000	0.45023	0.429000	0.26202	0.561000	0.74099	GCC		0.488	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		35	62	0	0	0	1	0	35	62					T	99865060	C	T	99865060	3	4	435	1	0	0	0	0	1	0	0	0	14132	768	27	1	47	1	SETD3	14	99865060	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	167247	99865060	7484480	6363	27288											
DEGS2	123099	broad.mit.edu	37	chr14	100615732	100615732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccgtcgccgcccaggtagCggtggtggtccacgtggtac	4	7	16	14	5	0	0	0	0	0	0	2	0	1	0	4	5	2	2	4	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:100615732C>T	ENST00000305631.5	-	2	973	c.398G>A	c.(397-399)cGc>cAc	p.R133H	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2											breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCCCAGGTAGCGGTGGTGGTC	0.697																																						ENST00000305631.5																			0				breast(1)|lung(6)|skin(1)	8						c.(397-399)cGc>cAc		delta(4)-desaturase, sphingolipid 2							28	27	27					14																	100615732		2198	4299	6497	SO:0001583	missense	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100615732C>T		CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"Fatty acid desaturases"	20113	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 2", "dihydroceramide desaturase 2"	610862	"chromosome 14 open reading frame 66", "degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.398G>A	14.37:g.100615732C>T	ENSP00000307126:p.Arg133His					DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	p.R133H	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN			2	973	-		Melanoma(154;0.212)	133						Missense_Mutation	SNP	ENST00000305631.5	37	c.398G>A	CCDS9956.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784838	0.90282	.	.	ENSG00000168350	ENST00000305631	T	0.13901	2.55	4.4	4.4	0.53042	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66208	-0.5981	10	0.87932	D	0	-12.8093	17.3127	0.87214	0.0:1.0:0.0:0.0	.	133	Q6QHC5	DEGS2_HUMAN	H	133	ENSP00000307126:R133H	ENSP00000307126:R133H	R	-	2	0	DEGS2	99685485	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	7.727000	0.84838	2.154000	0.67381	0.561000	0.74099	CGC		0.697	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414003.1	NM_206918		9	7	0	0	0	1	0	9	7					T	100615732	C	T	100615732	3	4	435	1	0	0	0	0	1	0	0	0	4423	768	27	1	581	1	DEGS2	14	100615732	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	750672	100615732	6733808	6364	27289											
WDR25	79446	broad.mit.edu	37	chr14	100950458	100950458	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgggatataaggactggCaaggtaatagccatattcct	12	11	11	7	0	0	0	0	0	0	0	1	2	1	2	2	4	1	3	2	4	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:100950458C>T	ENST00000335290.6	+	4	1324	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	WDR25_ENST00000542471.2_Silent_p.G109G|WDR25_ENST00000402312.3_Silent_p.G366G|WDR25_ENST00000554998.1_Silent_p.G366G	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	366										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TAAGGACTGGCAAGGTAATAG	0.408																																						ENST00000335290.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20						c.(1096-1098)ggC>ggT		WD repeat domain 25							115	120	119					14																	100950458		2203	4300	6503	SO:0001819	synonymous_variant	79446							g.chr14:100950458C>T	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"WD repeat domain containing"	21064	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 67"	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.1098C>T	14.37:g.100950458C>T						WDR25_ENST00000542471.2_Silent_p.G109G|WDR25_ENST00000554998.1_Silent_p.G366G|WDR25_ENST00000402312.3_Silent_p.G366G	p.G366G	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN			4	1324	+		Melanoma(154;0.212)	366					A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Silent	SNP	ENST00000335290.6	37	c.1098C>T	CCDS32157.1																																																																																				0.408	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		53	84	0	0	0	1	0	53	84					T	100950458	C	T	100950458	2	4	435	1	0	0	0	0	0	0	0	1	17279	697	25	3		3	WDR25	14	100950458	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	334726	100950458	6399082	6365	27290											
WDR25	79446	broad.mit.edu	37	chr14	100992319	100992319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccgggactcagctgaccGcaccattattgcctgggatt	8	9	10	14	2	1	1	1	1	0	0	1	3	1	3	4	2	2	2	4	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:100992319G>A	ENST00000335290.6	+	5	1440	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	WDR25_ENST00000542471.2_Missense_Mutation_p.R148H|WDR25_ENST00000402312.3_Missense_Mutation_p.R405H|WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000554998.1_Missense_Mutation_p.R405H	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	405										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TCAGCTGACCGCACCATTATT	0.542																																						ENST00000335290.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20						c.(1213-1215)cGc>cAc		WD repeat domain 25							72	65	67					14																	100992319		2203	4300	6503	SO:0001583	missense	79446							g.chr14:100992319G>A	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"WD repeat domain containing"	21064	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 67"	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.1214G>A	14.37:g.100992319G>A	ENSP00000334148:p.Arg405His					WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000542471.2_Missense_Mutation_p.R148H|WDR25_ENST00000554998.1_Missense_Mutation_p.R405H|WDR25_ENST00000402312.3_Missense_Mutation_p.R405H	p.R405H	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN			5	1440	+		Melanoma(154;0.212)	405					A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	ENST00000335290.6	37	c.1214G>A	CCDS32157.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	24.4|24.4	4.531927|4.531927	0.85706|0.85706	.|.	.|.	ENSG00000176473|ENSG00000176473	ENST00000555201|ENST00000554998;ENST00000402312;ENST00000335290;ENST00000542471	.|T;T;T;T	.|0.01359	.|4.98;4.98;4.98;4.98	4.87|4.87	3.98|3.98	0.46160|0.46160	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.059619	.|0.64402	.|N	.|0.000002	T|T	0.01940|0.01940	0.0061|0.0061	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999995|0.999995	.|P;D	.|0.56968	.|0.904;0.978	.|B;B	.|0.39419	.|0.147;0.299	T|T	0.62310|0.62310	-0.6881|-0.6881	5|10	.|0.66056	.|D	.|0.02	-22.9558|-22.9558	12.1462|12.1462	0.54024|0.54024	0.0856:0.0:0.9144:0.0|0.0856:0.0:0.9144:0.0	.|.	.|148;405	.|Q64LD2-2;Q64LD2	.|.;WDR25_HUMAN	T|H	13|405;405;405;148	.|ENSP00000450661:R405H;ENSP00000385540:R405H;ENSP00000334148:R405H;ENSP00000441903:R148H	.|ENSP00000334148:R405H	A|R	+|+	1|2	0|0	WDR25|WDR25	100062072|100062072	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	9.453000|9.453000	0.97619|0.97619	1.197000|1.197000	0.43143|0.43143	0.645000|0.645000	0.84053|0.84053	GCA|CGC		0.542	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		16	30	0	0	0	1	0	16	30					A	100992319	G	A	100992319	3	1	435	1	0	0	0	0	1	0	0	0	17279	1087	38	1	1228	1	WDR25	14	100992319	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	41861	100992319	6357221	6366	27291											
DYNC1H1	1778	broad.mit.edu	37	chr14	102476656	102476656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaaagccattatgacttcGgtcttcgggctttgaagagt	9	12	10	10	2	1	3	0	2	1	1	3	3	1	3	2	2	1	1	2	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:102476656G>A	ENST00000360184.4	+	31	6429	c.6265G>A	c.(6265-6267)Ggt>Agt	p.G2089S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2089	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			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						TTATGACTTCGGTCTTCGGGC	0.423																																						ENST00000360184.4																			0				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						c.(6265-6267)Ggt>Agt		dynein, cytoplasmic 1, heavy chain 1							93	97	96					14																	102476656		2203	4300	6503	SO:0001583	missense	1778				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	g.chr14:102476656G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6265G>A	14.37:g.102476656G>A	ENSP00000348965:p.Gly2089Ser						p.G2089S	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			31	6429	+			2089			AAA 1 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.6265G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	33	5.207495	0.95033	.	.	ENSG00000197102	ENST00000360184	T	0.38240	1.15	5.61	4.7	0.59300	.	0.048312	0.85682	D	0.000000	T	0.68504	0.3008	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78033	-0.2362	10	0.87932	D	0	.	16.4317	0.83847	0.0:0.1315:0.8685:0.0	.	2089	Q14204	DYHC1_HUMAN	S	2089	ENSP00000348965:G2089S	ENSP00000348965:G2089S	G	+	1	0	DYNC1H1	101546409	1.000000	0.71417	0.928000	0.36995	0.953000	0.61014	9.807000	0.99171	1.342000	0.45619	0.650000	0.86243	GGT		0.423	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		24	52	0	0	0	1	0	24	52					A	102476656	G	A	102476656	3	1	435	1	0	0	0	0	1	0	0	0	4841	1116	39	2	6387	2	DYNC1H1	14	102476656	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1484337	102476656	4872884	6367	27292											
DYNC1H1	1778	broad.mit.edu	37	chr14	102494048	102494048	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgatgctggactcgcaCgaggagctctacaagtggtt	8	9	14	10	2	1	1	0	1	1	0	2	4	1	3	1	4	3	4	1	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:102494048C>T	ENST00000360184.4	+	47	9305	c.9141C>T	c.(9139-9141)caC>caT	p.H3047H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3047	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			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						TGGACTCGCACGAGGAGCTCT	0.572																																						ENST00000360184.4																			0				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						c.(9139-9141)caC>caT		dynein, cytoplasmic 1, heavy chain 1							119	101	107					14																	102494048		2203	4300	6503	SO:0001819	synonymous_variant	1778				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	g.chr14:102494048C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9141C>T	14.37:g.102494048C>T							p.H3047H	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			47	9305	+			3047			AAA 4 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.9141C>T	CCDS9966.1																																																																																				0.572	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		4	46	0	0	0	1	0	4	46					T	102494048	C	T	102494048	2	4	435	1	0	0	0	0	0	0	0	1	4841	535	19	1		1	DYNC1H1	14	102494048	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17392	102494048	4855492	6368	27293											
DYNC1H1	1778	broad.mit.edu	37	chr14	102494416	102494416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtatgataagctgccgcagCcaccatcccatcgggaagcc	10	7	10	14	2	0	1	0	1	0	0	2	2	1	2	5	1	4	3	5	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:102494416C>T	ENST00000360184.4	+	48	9570	c.9406C>T	c.(9406-9408)Cca>Tca	p.P3136S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3136	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			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						GCTGCCGCAGCCACCATCCCA	0.448																																						ENST00000360184.4																			0				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						c.(9406-9408)Cca>Tca		dynein, cytoplasmic 1, heavy chain 1							149	145	146					14																	102494416		2203	4300	6503	SO:0001583	missense	1778				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	g.chr14:102494416C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9406C>T	14.37:g.102494416C>T	ENSP00000348965:p.Pro3136Ser						p.P3136S	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			48	9570	+			3136			AAA 4 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.9406C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710613	0.48517	.	.	ENSG00000197102	ENST00000360184	T	0.35605	1.3	5.85	5.85	0.93711	Dynein heavy chain, P-loop containing D4 domain (1);	0.108055	0.64402	D	0.000004	T	0.43500	0.1250	L	0.45051	1.395	0.80722	D	1	P	0.37141	0.584	B	0.43990	0.438	T	0.16100	-1.0414	10	0.46703	T	0.11	.	20.1634	0.98142	0.0:1.0:0.0:0.0	.	3136	Q14204	DYHC1_HUMAN	S	3136	ENSP00000348965:P3136S	ENSP00000348965:P3136S	P	+	1	0	DYNC1H1	101564169	1.000000	0.71417	0.995000	0.50966	0.140000	0.21249	4.736000	0.62059	2.773000	0.95371	0.655000	0.94253	CCA		0.448	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		35	41	0	0	0	1	0	35	41					T	102494416	C	T	102494416	3	4	435	1	0	0	0	0	1	0	0	0	4841	739	26	3	9596	3	DYNC1H1	14	102494416	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	368	102494416	4855124	6369	27294											
DYNC1H1	1778	broad.mit.edu	37	chr14	102516426	102516426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtttgaaacttcaaggggCcacgtgcaacaacaacaagc	15	6	10	10	1	1	1	1	1	0	0	1	1	1	1	1	3	6	2	1	3	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:102516426C>T	ENST00000360184.4	+	77	13867	c.13703C>T	c.(13702-13704)gCc>gTc	p.A4568V	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4568					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			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						CTTCAAGGGGCCACGTGCAAC	0.567																																						ENST00000360184.4																			0				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						c.(13702-13704)gCc>gTc		dynein, cytoplasmic 1, heavy chain 1							90	81	84					14																	102516426		2203	4300	6503	SO:0001583	missense	1778				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	g.chr14:102516426C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13703C>T	14.37:g.102516426C>T	ENSP00000348965:p.Ala4568Val					RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.A4568V	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			77	13867	+			4568					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.13703C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241962	0.95272	.	.	ENSG00000197102	ENST00000360184	T	0.16196	2.36	5.42	4.53	0.55603	Dynein heavy chain (1);	0.057945	0.64402	N	0.000002	T	0.41766	0.1173	M	0.82923	2.615	0.80722	D	1	D	0.59357	0.985	P	0.61132	0.884	T	0.48198	-0.9056	10	0.87932	D	0	.	14.0454	0.64702	0.0:0.9272:0.0:0.0728	.	4568	Q14204	DYHC1_HUMAN	V	4568	ENSP00000348965:A4568V	ENSP00000348965:A4568V	A	+	2	0	DYNC1H1	101586179	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.601000	0.82783	1.288000	0.44600	0.491000	0.48974	GCC		0.567	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		25	36	0	0	0	1	0	25	36					T	102516426	C	T	102516426	3	4	435	1	0	0	0	0	1	0	0	0	4841	739	26	3	14009	3	DYNC1H1	14	102516426	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	22010	102516426	4833114	6370	27295											
RAGE	5891	broad.mit.edu	37	chr14	102695636	102695636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgctcagttatcttccgCctttccgcactatggtgggc	4	14	10	13	2	2	0	1	0	1	0	4	0	4	0	3	2	2	4	3	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:102695636C>T	ENST00000361847.2	-	12	1481	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D	MOK_ENST00000517966.1_3'UTR|MOK_ENST00000522534.1_3'UTR|MOK_ENST00000519058.1_3'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.G416D|MOK_ENST00000523231.1_3'UTR|MOK_ENST00000524370.1_3'UTR|MOK_ENST00000524214.1_Missense_Mutation_p.G387D|MOK_ENST00000520266.1_5'UTR|MOK_ENST00000522867.1_3'UTR|MOK_ENST00000561150.1_Intron|MOK_ENST00000193029.6_Intron	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	417					protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										TTATCTTCCGCCTTTCCGCAC	0.582																																						ENST00000361847.2																			0											c.(1249-1251)gGc>gAc		MOK protein kinase							64	62	63					14																	102695636		2203	4300	6503	SO:0001583	missense	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102695636C>T	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.1250G>A	14.37:g.102695636C>T	ENSP00000355304:p.Gly417Asp					MOK_ENST00000519058.1_3'UTR|MOK_ENST00000193029.6_Intron|MOK_ENST00000517966.1_3'UTR|MOK_ENST00000561150.1_Intron|MOK_ENST00000520266.1_5'UTR|MOK_ENST00000523231.1_3'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.G416D|MOK_ENST00000524214.1_Missense_Mutation_p.G387D|MOK_ENST00000522534.1_3'UTR|MOK_ENST00000522867.1_3'UTR|MOK_ENST00000524370.1_3'UTR	p.G417D	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN			12	1481	-			417					B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	c.1250G>A	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130348	0.37630	.	.	ENSG00000080823	ENST00000522874;ENST00000361847;ENST00000524214	T;T;T	0.76060	-0.45;-0.51;-0.99	5.46	2.5	0.30297	.	0.494550	0.21329	N	0.076332	T	0.63390	0.2507	L	0.39566	1.225	0.09310	N	0.999999	B;B	0.15930	0.015;0.015	B;B	0.17433	0.018;0.011	T	0.51865	-0.8651	10	0.37606	T	0.19	.	9.7342	0.40377	0.1497:0.5614:0.2889:0.0	.	387;417	E7ERR8;Q9UQ07	.;MOK_HUMAN	D	416;417;387	ENSP00000429469:G416D;ENSP00000355304:G417D;ENSP00000428942:G387D	ENSP00000355304:G417D	G	-	2	0	RAGE	101765389	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-0.068000	0.11561	0.223000	0.20920	0.561000	0.74099	GGC		0.582	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			15	21	0	0	0	1	0	15	21					T	102695636	C	T	102695636	3	4	435	1	0	0	0	0	1	0	0	0	13006	739	26	3	13	3	RAGE	14	102695636	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	179210	102695636	4653904	6371	27296											
ZNF839	55778	broad.mit.edu	37	chr14	102792380	102792380	+	5'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaaggtcaggaaaggcCaatgctcctaccgaccacaa	17	4	8	12	1	1	0	1	0	0	0	2	2	2	1	4	3	3	1	4	3	7	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:102792380C>T	ENST00000558850.1	+	0	349				ZNF839_ENST00000559185.1_5'UTR|ZNF839_ENST00000442396.2_Missense_Mutation_p.P116L|ZNF839_ENST00000262236.5_5'UTR	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839								metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGGAAAGGCCAATGCTCCTA	0.517																																						ENST00000442396.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(346-348)cCa>cTa		zinc finger protein 839							34	39	38					14																	102792380		1930	4152	6082	SO:0001623	5_prime_UTR_variant	55778					intracellular	zinc ion binding	g.chr14:102792380C>T	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.-2C>T	14.37:g.102792380C>T						ZNF839_ENST00000559185.1_5'UTR|ZNF839_ENST00000558850.1_5'UTR|ZNF839_ENST00000262236.5_5'UTR	p.P116L			A8K0R7	ZN839_HUMAN			2	362	+			0					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.347C>T	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830710	0.50845	.	.	ENSG00000022976	ENST00000442396	T	0.20069	2.1	5.05	4.17	0.49024	.	.	.	.	.	T	0.14570	0.0352	N	0.17082	0.46	0.28899	N	0.893393	B	0.32382	0.368	B	0.32677	0.15	T	0.10776	-1.0615	9	0.44086	T	0.13	.	12.0688	0.53605	0.0:0.9201:0.0:0.0799	.	116	A8K0R7-5	.	L	116	ENSP00000399863:P116L	ENSP00000399863:P116L	P	+	2	0	ZNF839	101862133	0.006000	0.16342	0.003000	0.11579	0.055000	0.15305	0.393000	0.20817	1.158000	0.42547	-0.273000	0.10243	CCA		0.517	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		6	12	0	0	0	1	0	6	12					T	102792380	C	T	102792380	1	4	435	0	1	0	0	0	0	0	0	0	18185	594	21	3		3	ZNF839	14	102792380	5'UTR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	96744	102792380	4557160	6372	27297											
ZNF839	55778	broad.mit.edu	37	chr14	102792778	102792778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcgttaaaagtaaagacaCgttctggacgggtatctcga	14	10	10	7	4	2	1	0	0	2	1	4	3	2	2	0	2	0	4	0	2	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:102792778C>T	ENST00000558850.1	+	2	747	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C	ZNF839_ENST00000559185.1_Missense_Mutation_p.R133C|ZNF839_ENST00000442396.2_Missense_Mutation_p.R249C|ZNF839_ENST00000262236.5_Missense_Mutation_p.R133C	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	133							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGTAAAGACACGTTCTGGACG	0.378																																						ENST00000262236.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(397-399)Cgt>Tgt		zinc finger protein 839							38	36	37					14																	102792778		1857	4096	5953	SO:0001583	missense	55778					intracellular	zinc ion binding	g.chr14:102792778C>T	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.397C>T	14.37:g.102792778C>T	ENSP00000453363:p.Arg133Cys					ZNF839_ENST00000442396.2_Missense_Mutation_p.R249C|ZNF839_ENST00000559185.1_Missense_Mutation_p.R133C|ZNF839_ENST00000558850.1_Missense_Mutation_p.R133C	p.R133C	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN			2	752	+			133					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.397C>T	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059347	0.76074	.	.	ENSG00000022976	ENST00000442396;ENST00000262236	T;T	0.50001	0.76;0.76	5.08	5.08	0.68730	.	0.597359	0.12041	U	0.505027	T	0.70185	0.3195	M	0.65975	2.015	0.49299	D	0.999772	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.70454	-0.4867	10	0.87932	D	0	.	18.5645	0.91112	0.0:1.0:0.0:0.0	.	249;133;12;133	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	C	249;133	ENSP00000399863:R249C;ENSP00000262236:R133C	ENSP00000262236:R133C	R	+	1	0	ZNF839	101862531	0.999000	0.42202	0.957000	0.39632	0.893000	0.52053	4.215000	0.58534	2.395000	0.81488	0.650000	0.86243	CGT		0.378	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		20	12	0	0	0	1	0	20	12					T	102792778	C	T	102792778	3	4	435	1	0	0	0	0	1	0	0	0	18185	536	19	1	751	1	ZNF839	14	102792778	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	398	102792778	4556762	6373	27298											
ZNF839	55778	broad.mit.edu	37	chr14	102798054	102798054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaaggacctagaagacgCgcatgctcagagacccttgc	12	6	10	13	2	1	3	1	0	0	3	1	5	1	4	3	1	3	2	3	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:102798054C>T	ENST00000558850.1	+	3	1289	c.939C>T	c.(937-939)cgC>cgT	p.R313R	ZNF839_ENST00000559185.1_Silent_p.R313R|ZNF839_ENST00000442396.2_Silent_p.R429R|ZNF839_ENST00000262236.5_Silent_p.R313R	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	313							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CTAGAAGACGCGCATGCTCAG	0.552																																						ENST00000262236.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(937-939)cgC>cgT		zinc finger protein 839							51	51	51					14																	102798054		2003	4173	6176	SO:0001819	synonymous_variant	55778					intracellular	zinc ion binding	g.chr14:102798054C>T	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.939C>T	14.37:g.102798054C>T						ZNF839_ENST00000442396.2_Silent_p.R429R|ZNF839_ENST00000559185.1_Silent_p.R313R|ZNF839_ENST00000558850.1_Silent_p.R313R	p.R313R	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN			3	1294	+			313					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Silent	SNP	ENST00000558850.1	37	c.939C>T	CCDS58336.1																																																																																				0.552	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		4	8	0	0	0	1	0	4	8					T	102798054	C	T	102798054	2	4	435	1	0	0	0	0	0	0	0	1	18185	755	27	1		1	ZNF839	14	102798054	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5276	102798054	4551486	6374	27299											
TECPR2	9895	broad.mit.edu	37	chr14	102843240	102843240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcatgctctatctgtactGccggcacctcaaccagatga	9	9	9	14	2	3	2	1	1	2	1	3	2	3	2	3	2	4	4	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:102843240G>A	ENST00000359520.7	+	2	408	c.182G>A	c.(181-183)tGc>tAc	p.C61Y	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.C61Y	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	61					autophagy (GO:0006914)|cell death (GO:0008219)					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						TATCTGTACTGCCGGCACCTC	0.557																																						ENST00000359520.7																			0				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						c.(181-183)tGc>tAc		tectonin beta-propeller repeat containing 2							75	62	66					14																	102843240		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102843240G>A	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.182G>A	14.37:g.102843240G>A	ENSP00000352510:p.Cys61Tyr					TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.C61Y	p.C61Y	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			2	408	+			61					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.182G>A	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.748900	0.89753	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.01287	5.05	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.07818	0.0196	L	0.60455	1.87	0.54753	D	0.999984	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.78314	0.991;0.989;0.971	T	0.07616	-1.0763	10	0.49607	T	0.09	.	20.0545	0.97645	0.0:0.0:1.0:0.0	.	61;61;61	B4DK51;A5PKY3;O15040	.;.;TCPR2_HUMAN	Y	61	ENSP00000352510:C61Y	ENSP00000352510:C61Y	C	+	2	0	TECPR2	101912993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.540000	0.82074	2.748000	0.94277	0.655000	0.94253	TGC		0.557	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		11	11	0	0	0	1	0	11	11					A	102843240	G	A	102843240	3	1	435	1	0	0	0	0	1	0	0	0	15741	1319	46	3	184	3	TECPR2	14	102843240	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	45186	102843240	4506300	6375	27300											
CDC42BPB	9578	broad.mit.edu	37	chr14	103406213	103406213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaccttgaagacgaaccGccttttgctcctggtgcgca	7	10	12	12	3	0	2	0	1	0	1	1	4	1	3	4	2	3	2	4	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:103406213G>A	ENST00000361246.2	-	33	4951	c.4663C>T	c.(4663-4665)Cgg>Tgg	p.R1555W	RP11-365N19.2_ENST00000560931.1_RNA	NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AAGACGAACCGCCTTTTGCTC	0.647																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(4663-4665)Cgg>Tgg		CDC42 binding protein kinase beta (DMPK-like)							171	173	173					14																	103406213		2203	4300	6503	SO:0001583	missense	9578				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	g.chr14:103406213G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4663C>T	14.37:g.103406213G>A	ENSP00000355237:p.Arg1555Trp						p.R1555W	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	33	4951	-		Melanoma(154;0.155)	1555						Missense_Mutation	SNP	ENST00000361246.2	37	c.4663C>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503249	0.44558	.	.	ENSG00000198752	ENST00000361246	T	0.72167	-0.63	4.29	3.35	0.38373	.	0.178214	0.48767	N	0.000172	T	0.68118	0.2966	M	0.83118	2.625	0.47407	D	0.999412	B	0.23650	0.089	B	0.18263	0.021	T	0.67436	-0.5671	10	0.87932	D	0	.	5.7736	0.18267	0.1073:0.0:0.564:0.3287	.	1555	Q9Y5S2	MRCKB_HUMAN	W	1555	ENSP00000355237:R1555W	ENSP00000355237:R1555W	R	-	1	2	CDC42BPB	102475966	1.000000	0.71417	0.833000	0.33012	0.721000	0.41392	3.836000	0.55813	0.854000	0.35336	0.655000	0.94253	CGG		0.647	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		73	101	0	0	0	1	0	73	101					A	103406213	G	A	103406213	3	1	435	1	0	0	0	0	1	0	0	0	3073	1086	38	1	492	1	CDC42BPB	14	103406213	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	562973	103406213	3943327	6376	27301											
CDC42BPB	9578	broad.mit.edu	37	chr14	103410511	103410511	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaccgccaggcactgcacGctgccgggagccacaatctc	9	4	11	17	3	1	0	0	0	1	0	2	1	1	1	4	2	4	4	4	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:103410511G>A	ENST00000361246.2	-	30	4413	c.4125C>T	c.(4123-4125)agC>agT	p.S1375S		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GGCACTGCACGCTGCCGGGAG	0.587																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(4123-4125)agC>agT		CDC42 binding protein kinase beta (DMPK-like)							59	59	59					14																	103410511		2203	4300	6503	SO:0001819	synonymous_variant	9578				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	g.chr14:103410511G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4125C>T	14.37:g.103410511G>A							p.S1375S	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	30	4413	-		Melanoma(154;0.155)	1375			CNH.			Silent	SNP	ENST00000361246.2	37	c.4125C>T	CCDS9978.1																																																																																				0.587	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		16	33	0	0	0	1	0	16	33					A	103410511	G	A	103410511	2	1	435	1	0	0	0	0	0	0	0	1	3073	1078	38	1		1	CDC42BPB	14	103410511	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4298	103410511	3939029	6377	27302											
EIF5	1983	broad.mit.edu	37	chr14	103803076	103803076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgatgttaagaatgacCgttacattgtcaatggatct	12	15	9	5	1	2	3	1	2	1	1	2	4	2	4	1	1	1	3	1	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:103803076C>T	ENST00000216554.3	+	5	893	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	EIF5_ENST00000392715.2_Missense_Mutation_p.R73C|EIF5_ENST00000558506.1_Missense_Mutation_p.R73C|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000560200.1_3'UTR	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	73					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TAAGAATGACCGTTACATTGT	0.388																																						ENST00000216554.3																			0				breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(217-219)Cgt>Tgt		eukaryotic translation initiation factor 5							129	119	122					14																	103803076		2203	4300	6503	SO:0001583	missense	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103803076C>T	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.217C>T	14.37:g.103803076C>T	ENSP00000216554:p.Arg73Cys					EIF5_ENST00000560200.1_3'UTR|EIF5_ENST00000392715.2_Missense_Mutation_p.R73C|EIF5_ENST00000558506.1_Missense_Mutation_p.R73C	p.R73C	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	Epithelial(46;0.182)		5	893	+		Melanoma(154;0.155)	73					Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	ENST00000216554.3	37	c.217C>T	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.106954	0.77096	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	T;T	0.50277	0.75;0.75	5.72	4.84	0.62591	Translation initiation factor IF2/IF5, N-terminal (2);Translation initiation factor IF2/IF5 (2);	0.095245	0.85682	N	0.000000	T	0.55768	0.1941	M	0.81497	2.545	0.80722	D	1	P	0.38110	0.618	B	0.40741	0.339	T	0.63319	-0.6664	10	0.87932	D	0	-1.3714	14.6325	0.68666	0.0:0.9303:0.0:0.0697	.	73	P55010	IF5_HUMAN	C	73	ENSP00000216554:R73C;ENSP00000376477:R73C	ENSP00000216554:R73C	R	+	1	0	EIF5	102872829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.767000	0.85331	1.437000	0.47472	0.555000	0.69702	CGT		0.388	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		30	50	0	0	0	1	0	30	50					T	103803076	C	T	103803076	3	4	435	1	0	0	0	0	1	0	0	0	5040	652	23	2	227	2	EIF5	14	103803076	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	392565	103803076	3546464	6378	27303											
KLC1	3831	broad.mit.edu	37	chr14	104139525	104139525	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaagacgaaaaataacctgGtgtgttgactgcacagcact	14	9	9	9	1	0	2	0	1	0	1	0	3	0	2	1	1	3	3	1	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:104139525G>A	ENST00000348520.6	+	8	1480		c.e8+1		KLC1_ENST00000389744.4_Splice_Site|KLC1_ENST00000554280.1_Splice_Site|KLC1_ENST00000246489.7_Splice_Site|KLC1_ENST00000557450.1_Splice_Site|KLC1_ENST00000347839.6_Splice_Site|KLC1_ENST00000334553.6_Splice_Site|KLC1_ENST00000445352.4_Splice_Site|KLC1_ENST00000555836.1_Splice_Site|KLC1_ENST00000452929.2_Splice_Site|KLC1_ENST00000553286.1_Splice_Site|KLC1_ENST00000380038.3_Splice_Site|KLC1_ENST00000557575.1_Splice_Site|RP11-73M18.2_ENST00000472726.2_Splice_Site	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AAATAACCTGGTGTGTTGACT	0.433																																						ENST00000389744.4																		KLC1/ALK(2)	0				NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12						c.e8+1		kinesin light chain 1							43	43	43					14																	104139525		2203	4300	6503	SO:0001630	splice_region_variant	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104139525G>A	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"Tetratricopeptide (TTC) repeat domain containing"	6387	protein-coding gene	gene with protein product		600025	"kinesin 2 60/70kDa", "kinesin 2"	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.1161+1G>A	14.37:g.104139525G>A						KLC1_ENST00000555836.1_Splice_Site|KLC1_ENST00000347839.6_Splice_Site|KLC1_ENST00000246489.7_Splice_Site|KLC1_ENST00000557575.1_Splice_Site|RP11-73M18.2_ENST00000472726.2_Splice_Site|KLC1_ENST00000557450.1_Splice_Site|KLC1_ENST00000380038.3_Splice_Site|KLC1_ENST00000445352.4_Splice_Site|KLC1_ENST00000554280.1_Splice_Site|KLC1_ENST00000348520.6_Splice_Site|KLC1_ENST00000452929.2_Splice_Site|KLC1_ENST00000553286.1_Splice_Site|KLC1_ENST00000334553.6_Splice_Site				Q07866	KLC1_HUMAN			8	1430	+		Melanoma(154;0.155)|all_epithelial(191;0.19)						A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Splice_Site	SNP	ENST00000348520.6	37		CCDS41996.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303734	0.81136	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5386	0.95266	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLC1;RP11-73M18.2	103209278	1.000000	0.71417	0.997000	0.53966	0.823000	0.46562	9.862000	0.99564	2.610000	0.88304	0.650000	0.86243	.		0.433	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552	Intron	11	13	0	0	0	1	0	11	13					A	104139525	G	A	104139525	5	1	435	1	0	0	0	0	0	0	1	0	8333	1275	44	3	1188	3	KLC1	14	104139525	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	336449	104139525	3210015	6379	27304											
PPP1R13B	23368	broad.mit.edu	37	chr14	104206284	104206284	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggggaccgtggccacGttgttgttattgtcctctgc	3	14	15	9	2	1	0	0	0	1	0	2	1	2	1	3	4	1	3	3	4	1	4	rs199864652	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:104206284G>A	ENST00000202556.9	-	12	2751	c.2469C>T	c.(2467-2469)aaC>aaT	p.N823N	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.N242N	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	823	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)				CCGTGGCCACGTTGTTGTTAT	0.602													G|||	3	0.000599042	0	0	5008	,	,		18614	0		0	False		,,,				2504	0.0031					ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(2467-2469)aaC>aaT		protein phosphatase 1, regulatory subunit 13B		G		1,4137		0,1,2068	40	46	44		2469	-3.3	0.9	14		44	10,8404		0,10,4197	no	coding-synonymous	PPP1R13B	NM_015316.2		0,11,6265	AA,AG,GG		0.1188,0.0242,0.0876		823/1091	104206284	11,12541	2069	4207	6276	SO:0001819	synonymous_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104206284G>A	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2469C>T	14.37:g.104206284G>A						PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.N242N	p.N823N	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			12	2751	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	823			Pro-rich.		B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	c.2469C>T	CCDS41997.1																																																																																				0.602	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		10	18	0	0	0	1	0	10	18					A	104206284	G	A	104206284	2	1	435	1	0	0	0	0	0	0	0	1	12357	1136	40	1		1	PPP1R13B	14	104206284	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	66759	104206284	3143256	6380	27305											
PPP1R13B	23368	broad.mit.edu	37	chr14	104209063	104209063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctgcttgacagacccCtccacgctcggatccttcca	6	9	8	18	2	0	2	0	1	0	1	4	3	3	3	6	1	2	2	6	1	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:104209063C>A	ENST00000202556.9	-	10	1530	c.1248G>T	c.(1246-1248)gaG>gaT	p.E416D	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_De_novo_Start_OutOfFrame	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	416					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)				TGACAGACCCCTCCACGCTCG	0.557																																						ENST00000423488.2																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33								protein phosphatase 1, regulatory subunit 13B							57	61	59					14																	104209063		1982	4146	6128	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104209063C>A	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.1248G>T	14.37:g.104209063C>A	ENSP00000202556:p.Glu416Asp					PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000202556.9_Missense_Mutation_p.E416D				Q96KQ4	ASPP1_HUMAN			0	213	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)						B2RMX5|O94870	Translation_Start_Site	SNP	ENST00000202556.9	37		CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	2.956	-0.215708	0.06101	.	.	ENSG00000088808	ENST00000202556;ENST00000380023	T	0.48522	0.81	5.93	3.89	0.44902	.	0.344894	0.36482	N	0.002567	T	0.22742	0.0549	N	0.10809	0.05	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.12066	-1.0562	10	0.02654	T	1	.	10.0948	0.42469	0.2575:0.642:0.1005:0.0	.	416	Q96KQ4	ASPP1_HUMAN	D	416;283	ENSP00000202556:E416D	ENSP00000202556:E416D	E	-	3	2	PPP1R13B	103278816	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	1.189000	0.32114	1.470000	0.48102	0.561000	0.74099	GAG		0.557	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		34	48	1	0	5.43694e-19	1	6.01085e-19	34	48					A	104209063	C	A	104209063	3	1	435	1	0	0	0	0	1	0	0	0	12357	680	24	5	2056	5	PPP1R13B	14	104209063	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2779	104209063	3140477	6381	27306											
PPP1R13B	23368	broad.mit.edu	37	chr14	104219354	104219354	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgtagttcttggtacaGtctttttaactccaccgccg	7	15	7	12	2	2	0	0	0	2	0	3	0	3	0	4	1	3	3	4	1	4	8	rs374114918		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:104219354G>A	ENST00000202556.9	-	7	1093	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	271	Gln-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)				TCTTGGTACAGTCTTTTTAAC	0.413																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(811-813)Ctg>Ttg		protein phosphatase 1, regulatory subunit 13B		G		0,3680		0,0,1840	91	84	86		811	2.8	1	14		86	1,8209		0,1,4104	no	coding-synonymous	PPP1R13B	NM_015316.2		0,1,5944	AA,AG,GG		0.0122,0.0,0.0084		271/1091	104219354	1,11889	1840	4105	5945	SO:0001819	synonymous_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104219354G>A	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.811C>T	14.37:g.104219354G>A							p.L271L	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			7	1093	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	271			Gln-rich.		B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	c.811C>T	CCDS41997.1																																																																																				0.413	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		25	49	0	0	0	1	0	25	49					A	104219354	G	A	104219354	2	1	435	1	0	0	0	0	0	0	0	1	12357	1020	36	3		3	PPP1R13B	14	104219354	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10291	104219354	3130186	6382	27307											
PPP1R13B	23368	broad.mit.edu	37	chr14	104224075	104224075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagagggtaagttcaacaCgtggattcccaacctaaaca	14	8	9	10	1	1	1	1	1	0	1	2	3	2	2	2	2	3	2	2	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:104224075C>T	ENST00000202556.9	-	5	650	c.368G>A	c.(367-369)cGt>cAt	p.R123H		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	123					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)				AAGTTCAACACGTGGATTCCC	0.398																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(367-369)cGt>cAt		protein phosphatase 1, regulatory subunit 13B							124	112	116					14																	104224075		1879	4109	5988	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104224075C>T	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.368G>A	14.37:g.104224075C>T	ENSP00000202556:p.Arg123His						p.R123H	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			5	650	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	123					B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	c.368G>A	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178261	0.94846	.	.	ENSG00000088808	ENST00000202556;ENST00000555734	T;T	0.31769	1.48;1.48	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.34890	0.0913	L	0.50333	1.59	0.80722	D	1	P	0.47677	0.899	B	0.41860	0.368	T	0.08785	-1.0705	10	0.49607	T	0.09	.	19.9197	0.97082	0.0:1.0:0.0:0.0	.	123	Q96KQ4	ASPP1_HUMAN	H	123;120	ENSP00000202556:R123H;ENSP00000452376:R120H	ENSP00000202556:R123H	R	-	2	0	PPP1R13B	103293828	1.000000	0.71417	0.781000	0.31783	0.995000	0.86356	5.786000	0.69006	2.702000	0.92279	0.655000	0.94253	CGT		0.398	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		38	51	0	0	0	1	0	38	51					T	104224075	C	T	104224075	3	4	435	1	0	0	0	0	1	0	0	0	12357	536	19	1	2956	1	PPP1R13B	14	104224075	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4721	104224075	3125465	6383	27308											
TDRD9	122402	broad.mit.edu	37	chr14	104474749	104474749	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttttatatatttaaaGgatgaacttaattggggacg	12	16	9	4	1	1	1	0	1	1	0	1	3	1	3	0	3	2	1	0	3	7	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:104474749G>T	ENST00000409874.4	+	20	2100		c.e20-1		TDRD9_ENST00000339063.5_Splice_Site	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9						cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TATATTTAAAGGATGAACTTA	0.259																																						ENST00000409874.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.e20-1		tudor domain containing 9							65	75	72					14																	104474749		2196	4289	6485	SO:0001630	splice_region_variant	122402				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	g.chr14:104474749G>T	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2053-1G>T	14.37:g.104474749G>T						TDRD9_ENST00000339063.5_Splice_Site		NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN			20	2100	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)						A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Splice_Site	SNP	ENST00000409874.4	37		CCDS9987.2	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216165	0.58452	.	.	ENSG00000156414	ENST00000409874;ENST00000339063;ENST00000557332	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4363	0.90648	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TDRD9	103544502	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	8.789000	0.91839	2.336000	0.79503	0.467000	0.42956	.		0.259	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046	Intron	6	40	1	0	0.00198382	1	0.0020125	6	40					T	104474749	G	T	104474749	5	4	435	1	0	0	0	0	0	0	1	0	15733	1014	35	5	2130	5	TDRD9	14	104474749	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	250674	104474749	2874791	6384	27309											
INF2	64423	broad.mit.edu	37	chr14	105179320	105179320	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgggaccttttcctccgCgccctgaaggtggggcagcc	4	9	13	15	3	0	1	0	1	0	0	3	2	3	2	6	4	1	1	6	4	1	3	rs201044782		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105179320C>T	ENST00000392634.4	+	18	2878	c.2766C>T	c.(2764-2766)cgC>cgT	p.R922R	INF2_ENST00000330634.7_Silent_p.R922R	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	922	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				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)		TTTTCCTCCGCGCCCTGAAGG	0.667													c|||	1	0.000199681	0	0	5008	,	,		15619	0.001		0	False		,,,				2504	0					ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(2764-2766)cgC>cgT		inverted formin, FH2 and WH2 domain containing							59	67	64					14																	105179320		2044	4165	6209	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105179320C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2766C>T	14.37:g.105179320C>T						INF2_ENST00000330634.7_Silent_p.R922R	p.R922R	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	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)	18	2878	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	922			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.2766C>T	CCDS9989.2																																																																																				0.667	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		38	74	0	0	0	1	0	38	74					T	105179320	C	T	105179320	2	4	435	1	0	0	0	0	0	0	0	1	7734	755	27	1		1	INF2	14	105179320	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	704571	105179320	2170220	6385	27310											
INF2	64423	broad.mit.edu	37	chr14	105180579	105180579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagatcccgtgggcagcaCgcgctgtcccgcctctgagc	6	6	14	15	4	1	2	0	1	1	1	3	3	3	2	3	2	2	3	3	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105180579C>T	ENST00000392634.4	+	21	3192	c.3080C>T	c.(3079-3081)aCg>aTg	p.T1027M	INF2_ENST00000330634.7_Missense_Mutation_p.T1027M	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1027					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				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)		GTGGGCAGCACGCGCTGTCCC	0.692																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(3079-3081)aCg>aTg		inverted formin, FH2 and WH2 domain containing							13	19	17					14																	105180579		2001	4130	6131	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105180579C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3080C>T	14.37:g.105180579C>T	ENSP00000376410:p.Thr1027Met					INF2_ENST00000330634.7_Missense_Mutation_p.T1027M	p.T1027M	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	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)	21	3192	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	1027					Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.3080C>T	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	8.536	0.872036	0.17322	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.80738	-1.4;-1.41	2.4	0.355	0.16069	.	3.286690	0.01603	N	0.022167	T	0.68091	0.2963	N	0.19112	0.55	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.14023	0.01;0.004	T	0.53251	-0.8465	10	0.46703	T	0.11	.	4.1916	0.10424	0.0:0.6059:0.2381:0.1559	.	1027;1027	Q27J81-2;Q27J81	.;INF2_HUMAN	M	1027	ENSP00000376406:T1027M;ENSP00000376410:T1027M	ENSP00000252527:T495M	T	+	2	0	INF2	104251624	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	2.426000	0.44731	-0.070000	0.12908	-0.424000	0.05967	ACG		0.692	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		4	5	0	0	0	1	0	4	5					T	105180579	C	T	105180579	3	4	435	1	0	0	0	0	1	0	0	0	7734	536	19	1	3162	1	INF2	14	105180579	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1259	105180579	2168961	6386	27311											
ADSSL1	122622	broad.mit.edu	37	chr14	105208270	105208270	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgcagaacataggtgaCgtgtatggcgtggtgaaagc	10	7	14	10	3	0	3	0	2	0	1	0	3	0	3	2	3	2	2	2	3	4	2	rs148388939	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105208270C>T	ENST00000330877.2	+	9	964	c.879C>T	c.(877-879)gaC>gaT	p.D293D	ADSSL1_ENST00000332972.5_Silent_p.D336D	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		ACATAGGTGACGTGTATGGCG	0.632																																						ENST00000332972.5																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11						c.(1006-1008)gaC>gaT		adenylosuccinate synthase like 1	L-Aspartic Acid(DB00128)	C	,	0,4406		0,0,2203	162	142	149		879,1008	-10.3	0	14	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADSSL1	NM_152328.3,NM_199165.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	293/458,336/501	105208270	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105208270C>T	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.879C>T	14.37:g.105208270C>T						ADSSL1_ENST00000330877.2_Silent_p.D293D	p.D336D	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	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)	9	1167	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	293			Substrate binding (By similarity).			Silent	SNP	ENST00000330877.2	37	c.1008C>T	CCDS9990.1																																																																																				0.632	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			11	74	0	0	0	1	0	11	74					T	105208270	C	T	105208270	2	4	435	1	0	0	0	0	0	0	0	1	348	535	19	1		1	ADSSL1	14	105208270	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27691	105208270	2141270	6387	27312											
KIAA0284	283638	broad.mit.edu	37	chr14	105353125	105353125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtcatccagctacggcCtggacggtccccagaacccg	9	6	11	15	3	1	1	1	0	0	1	3	2	3	2	5	4	3	1	5	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105353125C>T	ENST00000414716.3	+	12	2777	c.2549C>T	c.(2548-2550)cCt>cTt	p.P850L	CEP170B_ENST00000418279.1_Missense_Mutation_p.P780L|CEP170B_ENST00000453495.1_Missense_Mutation_p.P851L|CEP170B_ENST00000556508.1_Missense_Mutation_p.P780L	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	850						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CAGCTACGGCCTGGACGGTCC	0.677																																						ENST00000453495.1																			0											c.(2551-2553)cCt>cTt		centrosomal protein 170B							32	41	38					14																	105353125		2021	4155	6176	SO:0001583	missense	283638							g.chr14:105353125C>T	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2549C>T	14.37:g.105353125C>T	ENSP00000404151:p.Pro850Leu					CEP170B_ENST00000418279.1_Missense_Mutation_p.P780L|CEP170B_ENST00000414716.3_Missense_Mutation_p.P850L|CEP170B_ENST00000556508.1_Missense_Mutation_p.P780L	p.P851L							12	2780	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.2552C>T	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	C	4.779	0.144940	0.09134	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.42900	0.98;0.97;0.96;0.96	4.63	2.74	0.32292	.	0.828483	0.09751	N	0.760555	T	0.23133	0.0559	N	0.14661	0.345	0.09310	N	1	B;B;B	0.27229	0.137;0.172;0.137	B;B;B	0.25140	0.023;0.039;0.058	T	0.22871	-1.0204	10	0.39692	T	0.17	0.0487	3.1655	0.06534	0.2959:0.4814:0.1294:0.0933	.	850;850;780	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	L	780;850;851;780	ENSP00000451249:P780L;ENSP00000404151:P850L;ENSP00000407238:P851L;ENSP00000415006:P780L	ENSP00000404151:P850L	P	+	2	0	KIAA0284	104424170	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.229000	0.17833	0.352000	0.24053	0.462000	0.41574	CCT		0.677	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		4	26	0	0	0	1	0	4	26					T	105353125	C	T	105353125	3	4	435	1	0	0	0	0	1	0	0	0	8166	681	24	3	2591	3	KIAA0284	14	105353125	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	144855	105353125	1996415	6388	27313											
AHNAK2	113146	broad.mit.edu	37	chr14	105410919	105410919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccttgtcagccagggacagGtctccctccagccgcccagc	6	7	10	18	1	2	0	1	0	1	0	5	1	4	1	6	2	3	0	6	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105410919G>A	ENST00000333244.5	-	7	10988	c.10869C>T	c.(10867-10869)gaC>gaT	p.D3623D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3623						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				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)			CCAGGGACAGGTCTCCCTCCA	0.592																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10867-10869)gaC>gaT		AHNAK nucleoprotein 2							144	156	152					14																	105410919		2042	4185	6227	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105410919G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10869C>T	14.37:g.105410919G>A						AHNAK2_ENST00000557457.1_Intron	p.D3623D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10988	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3623					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.10869C>T	CCDS45177.1																																																																																				0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		78	132	0	0	0	1	0	78	132					A	105410919	G	A	105410919	2	1	435	1	0	0	0	0	0	0	0	1	415	1252	44	3		3	AHNAK2	14	105410919	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	57794	105410919	1938621	6389	27314											
AHNAK2	113146	broad.mit.edu	37	chr14	105411028	105411028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctcacttctgccttggggCctttcaggtccagcttgggg	3	13	12	13	0	3	0	2	0	2	0	5	0	4	0	3	5	2	1	3	5	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105411028C>T	ENST00000333244.5	-	7	10879	c.10760G>A	c.(10759-10761)gGc>gAc	p.G3587D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3587						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				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)			TGCCTTGGGGCCTTTCAGGTC	0.617																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10759-10761)gGc>gAc		AHNAK nucleoprotein 2							102	111	108					14																	105411028		1903	4113	6016	SO:0001583	missense	113146					nucleus		g.chr14:105411028C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10760G>A	14.37:g.105411028C>T	ENSP00000353114:p.Gly3587Asp					AHNAK2_ENST00000557457.1_Intron	p.G3587D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10879	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3587					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10760G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	11.40	1.627817	0.28978	.	.	ENSG00000185567	ENST00000333244	T	0.06068	3.35	4.19	0.847	0.18961	.	.	.	.	.	T	0.27027	0.0662	M	0.91406	3.205	0.09310	N	1	D	0.71674	0.998	D	0.69142	0.962	T	0.06197	-1.0840	9	0.39692	T	0.17	.	10.419	0.44340	0.4792:0.5208:0.0:0.0	.	3587	Q8IVF2	AHNK2_HUMAN	D	3587	ENSP00000353114:G3587D	ENSP00000353114:G3587D	G	-	2	0	AHNAK2	104482073	0.000000	0.05858	0.013000	0.15412	0.194000	0.23727	-0.399000	0.07250	0.182000	0.20032	0.313000	0.20887	GGC		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		76	93	0	0	0	1	0	76	93					T	105411028	C	T	105411028	3	4	435	1	0	0	0	0	1	0	0	0	415	739	26	3	6631	3	AHNAK2	14	105411028	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	109	105411028	1938512	6390	27315											
AHNAK2	113146	broad.mit.edu	37	chr14	105411299	105411299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccttcggcgcagacacatCcagcgaggcctcgatggacc	9	5	11	16	4	0	1	0	0	0	1	3	4	1	2	4	3	1	1	4	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105411299C>T	ENST00000333244.5	-	7	10608	c.10489G>A	c.(10489-10491)Gat>Aat	p.D3497N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3497						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				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)			GCAGACACATCCAGCGAGGCC	0.607																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10489-10491)Gat>Aat		AHNAK nucleoprotein 2							159	172	168					14																	105411299		1960	4135	6095	SO:0001583	missense	113146					nucleus		g.chr14:105411299C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10489G>A	14.37:g.105411299C>T	ENSP00000353114:p.Asp3497Asn					AHNAK2_ENST00000557457.1_Intron	p.D3497N	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10608	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3497					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10489G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	14.08	2.428991	0.43122	.	.	ENSG00000185567	ENST00000333244	T	0.01265	5.08	3.62	3.62	0.41486	.	0.737978	0.10804	U	0.632380	T	0.04634	0.0126	L	0.54908	1.71	0.18873	N	0.999986	D	0.67145	0.996	P	0.60541	0.876	T	0.47911	-0.9080	10	0.25106	T	0.35	.	10.6538	0.45663	0.0:1.0:0.0:0.0	.	3497	Q8IVF2	AHNK2_HUMAN	N	3497	ENSP00000353114:D3497N	ENSP00000353114:D3497N	D	-	1	0	AHNAK2	104482344	0.001000	0.12720	0.011000	0.14972	0.003000	0.03518	0.462000	0.21956	1.861000	0.53984	0.313000	0.20887	GAT		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	219	0	0	0	1	0	6	219					T	105411299	C	T	105411299	3	4	435	1	0	0	0	0	1	0	0	0	415	855	30	3	6902	3	AHNAK2	14	105411299	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	271	105411299	1938241	6391	27316											
AHNAK2	113146	broad.mit.edu	37	chr14	105411328	105411328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcgatggacctgcctgggGccgacaccccgaaggagggc	7	4	15	15	3	0	0	0	0	0	0	1	5	0	2	6	5	1	0	6	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105411328G>A	ENST00000333244.5	-	7	10579	c.10460C>T	c.(10459-10461)gCc>gTc	p.A3487V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3487						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				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)			CCTGCCTGGGGCCGACACCCC	0.622																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10459-10461)gCc>gTc		AHNAK nucleoprotein 2							191	206	201					14																	105411328		1968	4137	6105	SO:0001583	missense	113146					nucleus		g.chr14:105411328G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10460C>T	14.37:g.105411328G>A	ENSP00000353114:p.Ala3487Val					AHNAK2_ENST00000557457.1_Intron	p.A3487V	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10579	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3487					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10460C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	11.99	1.804365	0.31869	.	.	ENSG00000185567	ENST00000333244	T	0.01015	5.44	4.15	0.846	0.18955	.	26.326900	0.02179	U	0.060328	T	0.01489	0.0048	L	0.57536	1.79	0.09310	N	1	B	0.26147	0.143	B	0.23419	0.046	T	0.49771	-0.8904	10	0.30854	T	0.27	.	4.9823	0.14172	0.2194:0.2652:0.5154:0.0	.	3487	Q8IVF2	AHNK2_HUMAN	V	3487	ENSP00000353114:A3487V	ENSP00000353114:A3487V	A	-	2	0	AHNAK2	104482373	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.203000	0.09438	0.698000	0.31739	0.313000	0.20887	GCC		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		98	164	0	0	0	1	0	98	164					A	105411328	G	A	105411328	3	1	435	1	0	0	0	0	1	0	0	0	415	1203	42	3	6931	3	AHNAK2	14	105411328	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29	105411328	1938212	6392	27317											
AHNAK2	113146	broad.mit.edu	37	chr14	105412499	105412499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacgtcgggggccgtcaCgtccgtcttcgggcctttca	3	10	12	16	6	3	0	2	0	1	0	7	0	5	0	4	3	0	0	4	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105412499C>T	ENST00000333244.5	-	7	9408	c.9289G>A	c.(9289-9291)Gtg>Atg	p.V3097M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3097						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				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)			GGGGCCGTCACGTCCGTCTTC	0.622																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(9289-9291)Gtg>Atg		AHNAK nucleoprotein 2							114	110	111					14																	105412499		1911	4097	6008	SO:0001583	missense	113146					nucleus		g.chr14:105412499C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9289G>A	14.37:g.105412499C>T	ENSP00000353114:p.Val3097Met					AHNAK2_ENST00000557457.1_Intron	p.V3097M	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9408	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3097					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.9289G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	9.542	1.113657	0.20795	.	.	ENSG00000185567	ENST00000333244	T	0.01145	5.27	3.5	1.51	0.23008	.	.	.	.	.	T	0.05410	0.0143	M	0.86178	2.8	0.09310	N	1	D	0.89917	1.0	D	0.67900	0.954	T	0.24870	-1.0148	9	0.37606	T	0.19	.	6.5663	0.22513	0.0:0.3944:0.4356:0.1701	.	3097	Q8IVF2	AHNK2_HUMAN	M	3097	ENSP00000353114:V3097M	ENSP00000353114:V3097M	V	-	1	0	AHNAK2	104483544	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.748000	0.04818	0.083000	0.17047	0.313000	0.20887	GTG		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		83	80	0	0	0	1	0	83	80					T	105412499	C	T	105412499	3	4	435	1	0	0	0	0	1	0	0	0	415	536	19	1	8102	1	AHNAK2	14	105412499	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1171	105412499	1937041	6393	27318											
AHNAK2	113146	broad.mit.edu	37	chr14	105413601	105413601	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atctgcagcttgggcaggtgCcctttgaggccggctccctc	4	10	13	14	1	1	1	0	1	1	0	3	1	2	1	3	4	3	4	3	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105413601C>T	ENST00000333244.5	-	7	8306	c.8187G>A	c.(8185-8187)ggG>ggA	p.G2729G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2729						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				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)			TGGGCAGGTGCCCTTTGAGGC	0.617																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8185-8187)ggG>ggA		AHNAK nucleoprotein 2							124	136	132					14																	105413601		1861	4097	5958	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105413601C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8187G>A	14.37:g.105413601C>T						AHNAK2_ENST00000557457.1_Intron	p.G2729G	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8306	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2729					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.8187G>A	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		90	109	0	0	0	1	0	90	109					T	105413601	C	T	105413601	2	4	435	1	0	0	0	0	0	0	0	1	415	726	26	3		3	AHNAK2	14	105413601	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1102	105413601	1935939	6394	27319											
AHNAK2	113146	broad.mit.edu	37	chr14	105418103	105418103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccctccaggagcttcaCgtccacctggccagcgtgga	6	7	13	15	2	1	0	1	0	0	0	3	2	3	2	5	4	2	1	5	4	0	1	rs371284486		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105418103C>T	ENST00000333244.5	-	7	3804	c.3685G>A	c.(3685-3687)Gtg>Atg	p.V1229M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1229						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				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)			AGGAGCTTCACGTCCACCTGG	0.622													.|||	1	0.000199681	0	0	5008	,	,		14298	0.001		0	False		,,,				2504	0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3685-3687)Gtg>Atg		AHNAK nucleoprotein 2							78	56	63					14																	105418103		1894	3834	5728	SO:0001583	missense	113146					nucleus		g.chr14:105418103C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3685G>A	14.37:g.105418103C>T	ENSP00000353114:p.Val1229Met					AHNAK2_ENST00000557457.1_Intron	p.V1229M	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3804	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1229					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3685G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	10.81	1.454069	0.26161	.	.	ENSG00000185567	ENST00000333244	T	0.01185	5.21	4.55	-3.82	0.04281	.	.	.	.	.	T	0.00695	0.0023	L	0.27053	0.805	0.09310	N	1	P	0.43314	0.803	B	0.32724	0.151	T	0.48055	-0.9068	9	0.30078	T	0.28	.	3.9444	0.09343	0.1054:0.2535:0.1043:0.5369	.	1229	Q8IVF2	AHNK2_HUMAN	M	1229	ENSP00000353114:V1229M	ENSP00000353114:V1229M	V	-	1	0	AHNAK2	104489148	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.087000	0.00152	-0.771000	0.04608	-1.367000	0.01198	GTG		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		54	9	0	0	0	1	0	54	9					T	105418103	C	T	105418103	3	4	435	1	0	0	0	0	1	0	0	0	415	536	19	1	13706	1	AHNAK2	14	105418103	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4502	105418103	1931437	6395	27320											
AHNAK2	113146	broad.mit.edu	37	chr14	105420184	105420184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctgcccggcatccacccgGctccttccacctcctcaccc	4	7	5	25	2	1	0	1	0	0	0	5	0	5	0	9	2	1	2	9	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105420184G>A	ENST00000333244.5	-	7	1723	c.1604C>T	c.(1603-1605)gCc>gTc	p.A535V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	535						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				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)			CATCCACCCGGCTCCTTCCAC	0.577																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(1603-1605)gCc>gTc		AHNAK nucleoprotein 2							149	159	156					14																	105420184		2044	4190	6234	SO:0001583	missense	113146					nucleus		g.chr14:105420184G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1604C>T	14.37:g.105420184G>A	ENSP00000353114:p.Ala535Val					AHNAK2_ENST00000557457.1_Intron	p.A535V	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1723	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	535					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.1604C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	10.71	1.425750	0.25639	.	.	ENSG00000185567	ENST00000333244	T	0.02709	4.19	2.69	1.75	0.24633	.	.	.	.	.	T	0.02304	0.0071	N	0.19112	0.55	0.09310	N	1	P	0.46512	0.879	B	0.39562	0.303	T	0.49952	-0.8884	9	0.56958	D	0.05	.	8.7377	0.34539	0.0:0.0:0.5043:0.4957	.	535	Q8IVF2	AHNK2_HUMAN	V	535	ENSP00000353114:A535V	ENSP00000353114:A535V	A	-	2	0	AHNAK2	104491229	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.284000	0.18864	0.410000	0.25675	0.561000	0.74099	GCC		0.577	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		47	54	0	0	0	1	0	47	54					A	105420184	G	A	105420184	3	1	435	1	0	0	0	0	1	0	0	0	415	1203	42	3	15787	3	AHNAK2	14	105420184	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2081	105420184	1929356	6396	27321											
JAG2	3714	broad.mit.edu	37	chr14	105615403	105615403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggcatcccaggccccgCgtctgacccgcagccatcga	7	4	11	19	4	1	1	0	1	1	0	3	2	2	1	6	2	1	2	6	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105615403C>T	ENST00000331782.3	-	14	2180	c.1777G>A	c.(1777-1779)Gcg>Acg	p.A593T	JAG2_ENST00000347004.2_Missense_Mutation_p.A555T	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	593	EGF-like 10; atypical. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCAGGCCCCGCGTCTGACCCG	0.682																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(1777-1779)Gcg>Acg		jagged 2							12	14	14					14																	105615403		2181	4279	6460	SO:0001583	missense	3714				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	g.chr14:105615403C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1777G>A	14.37:g.105615403C>T	ENSP00000328169:p.Ala593Thr					JAG2_ENST00000347004.2_Missense_Mutation_p.A555T	p.A593T	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	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)	14	2180	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	593			EGF-like 10; atypical.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.1777G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	0.117	-1.130119	0.01756	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.86230	-2.09;-2.09	3.92	3.02	0.34903	Epidermal growth factor-like (1);	0.208400	0.40302	N	0.001133	T	0.72740	0.3498	N	0.16478	0.41	0.09310	N	1	B;B	0.15141	0.012;0.007	B;B	0.09377	0.004;0.002	T	0.54616	-0.8267	10	0.13470	T	0.59	.	8.362	0.32363	0.0:0.8819:0.0:0.1181	.	555;593	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	T	593;555	ENSP00000328169:A593T;ENSP00000328566:A555T	ENSP00000328169:A593T	A	-	1	0	JAG2	104686448	0.002000	0.14202	0.002000	0.10522	0.000000	0.00434	0.888000	0.28268	0.944000	0.37579	-0.263000	0.10527	GCG		0.682	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			3	5	0	0	0	1	0	3	5					T	105615403	C	T	105615403	3	4	435	1	0	0	0	0	1	0	0	0	7935	768	27	1	1991	1	JAG2	14	105615403	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	195219	105615403	1734137	6397	27322											
NUDT14	256281	broad.mit.edu	37	chr14	105643040	105643040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggctggctgtagctcccGaggcccgtcctggtctacag	5	8	14	14	2	1	0	0	0	1	0	3	1	3	0	3	4	2	4	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105643040G>A	ENST00000392568.2	-	4	352	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	87	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)	p.R87G(1)		cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TGTAGCTCCCGAGGCCCGTCC	0.667										HNSCC(42;0.11)																												ENST00000392568.2																			1	Substitution - Missense(1)	p.R87G(1)	upper_aerodigestive_tract(1)	cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14						c.(259-261)Cgg>Tgg		nudix (nucleoside diphosphate linked moiety X)-type motif 14							44	45	45					14																	105643040		2199	4289	6488	SO:0001583	missense	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105643040G>A	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"Nudix motif containing"	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.259C>T	14.37:g.105643040G>A	ENSP00000376349:p.Arg87Trp	HNSCC(42;0.11)				RP11-44N21.4_ENST00000548203.1_RNA	p.R87W	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	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)	4	352	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	87			Nudix hydrolase.		Q86SJ8	Missense_Mutation	SNP	ENST00000392568.2	37	c.259C>T	CCDS10000.1	.	.	.	.	.	.	.	.	.	.	G	8.326	0.825452	0.16749	.	.	ENSG00000183828	ENST00000392568;ENST00000535832	.	.	.	3.61	1.75	0.24633	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.753271	0.12175	N	0.492693	T	0.27731	0.0682	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.24333	-1.0163	9	0.72032	D	0.01	-9.3657	4.5829	0.12267	0.1164:0.0:0.6684:0.2152	.	87	O95848	NUD14_HUMAN	W	87	.	ENSP00000376349:R87W	R	-	1	2	NUDT14	104714085	0.218000	0.23608	0.001000	0.08648	0.025000	0.11179	2.679000	0.46909	0.503000	0.28060	0.563000	0.77884	CGG		0.667	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	NM_177533		16	25	0	0	0	1	0	16	25					A	105643040	G	A	105643040	3	1	435	1	0	0	0	0	1	0	0	0	10730	1057	37	2	417	2	NUDT14	14	105643040	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27637	105643040	1706500	6398	27323											
PACS2	23241	broad.mit.edu	37	chr14	105849203	105849203	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcacgtgctctcctgcGgacgtccaggcggccttcag	4	9	14	14	4	2	0	1	0	1	0	4	1	3	1	3	3	3	2	3	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105849203G>A	ENST00000325438.8	+	15	2070	c.1566G>A	c.(1564-1566)gcG>gcA	p.A522A	PACS2_ENST00000447393.1_Silent_p.A526A|PACS2_ENST00000458164.2_Silent_p.A526A|PACS2_ENST00000547217.1_Silent_p.A492A|PACS2_ENST00000430725.2_Silent_p.A447A|PACS2_ENST00000551743.1_5'Flank			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	522					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GCTCTCCTGCGGACGTCCAGG	0.637																																						ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(1576-1578)gcG>gcA		phosphofurin acidic cluster sorting protein 2							80	68	72					14																	105849203		2202	4300	6502	SO:0001819	synonymous_variant	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105849203G>A	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1566G>A	14.37:g.105849203G>A						PACS2_ENST00000547217.1_Silent_p.A492A|PACS2_ENST00000325438.8_Silent_p.A522A|PACS2_ENST00000430725.2_Silent_p.A447A|PACS2_ENST00000458164.2_Silent_p.A526A	p.A526A	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	15	1753	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	522					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Silent	SNP	ENST00000325438.8	37	c.1578G>A	CCDS32168.1																																																																																				0.637	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		10	16	0	0	0	1	0	10	16					A	105849203	G	A	105849203	2	1	435	1	0	0	0	0	0	0	0	1	11373	1103	39	2		2	PACS2	14	105849203	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	206163	105849203	1500337	6399	27324											
C14orf80	283643	broad.mit.edu	37	chr14	105960184	105960184	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttagatccacctgtacAcacgcggctgccacagcgac	9	9	9	14	3	0	1	0	0	0	1	1	2	1	1	3	1	3	3	3	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105960184A>G	ENST00000392523.4	+	5	719	c.598A>G	c.(598-600)Aca>Gca	p.T200A	C14orf80_ENST00000551054.1_Intron|C14orf80_ENST00000450383.1_Missense_Mutation_p.T22A|C14orf80_ENST00000392527.1_Intron|C14orf80_ENST00000329886.7_Intron|C14orf80_ENST00000334656.7_Intron|C14orf80_ENST00000392522.3_Missense_Mutation_p.T200A|C14orf80_ENST00000354560.6_Intron			Q86SX3	CN080_HUMAN	chromosome 14 open reading frame 80	200										central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		CCACCTGTACACACGCGGCTG	0.612																																						ENST00000392523.4																			0				central_nervous_system(1)	1						c.(598-600)Aca>Gca		chromosome 14 open reading frame 80							54	39	44					14																	105960184		2195	4299	6494	SO:0001583	missense	283643							g.chr14:105960184A>G		CCDS45180.1, CCDS45181.1, CCDS45182.1, CCDS55955.1	14q32.33	2012-09-25			ENSG00000185347	ENSG00000185347			20127	protein-coding gene	gene with protein product							Standard	NM_001134875		Approved		uc001yrn.3	Q86SX3	OTTHUMG00000170426	ENST00000392523.4:c.598A>G	14.37:g.105960184A>G	ENSP00000376308:p.Thr200Ala					C14orf80_ENST00000392522.3_Missense_Mutation_p.T200A|C14orf80_ENST00000392527.1_Intron|C14orf80_ENST00000334656.7_Intron|C14orf80_ENST00000329886.7_Intron|C14orf80_ENST00000354560.6_Intron|C14orf80_ENST00000450383.1_Missense_Mutation_p.T22A|C14orf80_ENST00000551054.1_Intron	p.T200A			Q86SX3	CN080_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)	5	719	+		Melanoma(154;0.226)	200					B5MDG3|E9PAQ4|Q86TT3|Q86TT4|Q86TT5|Q96B41|Q9H7H4	Missense_Mutation	SNP	ENST00000392523.4	37	c.598A>G		.	.	.	.	.	.	.	.	.	.	A	11.06	1.527840	0.27299	.	.	ENSG00000185347	ENST00000455454;ENST00000432805;ENST00000421892;ENST00000392522;ENST00000392523;ENST00000548920;ENST00000450383	.	.	.	3.37	3.37	0.38596	.	0.078051	0.48286	D	0.000196	T	0.55768	0.1941	L	0.46157	1.445	0.32334	N	0.560729	D;D;D	0.71674	0.996;0.998;0.996	D;D;D	0.80764	0.99;0.994;0.986	T	0.60949	-0.7161	9	0.36615	T	0.2	-32.1025	8.3441	0.32261	1.0:0.0:0.0:0.0	.	148;200;200	C9JZD4;E9PAQ4;Q86SX3	.;.;CN080_HUMAN	A	159;159;74;200;200;129;22	.	ENSP00000376307:T200A	T	+	1	0	C14orf80	105031229	0.869000	0.29996	0.015000	0.15790	0.044000	0.14063	1.661000	0.37408	1.515000	0.48885	0.455000	0.32223	ACA		0.612	C14orf80-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409090.1	NM_001134875		5	19	0	0	0	1	0	5	19					G	105960184	A	G	105960184	3	3	435	1	0	0	0	0	1	0	0	0	1781	159	6	4	644	4	C14orf80	14	105960184	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	110981	105960184	1389356	6400	27325											
OR4N4	283694	broad.mit.edu	37	chr15	22382718	22382718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgtggctcccaggatgttGgtggacttcctctctgagaa	7	13	12	9	0	1	1	0	1	1	1	4	4	3	3	2	4	0	2	2	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:22382718G>T	ENST00000328795.4	+	1	337	c.246G>T	c.(244-246)ttG>ttT	p.L82F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCAGGATGTTGGTGGACTTCC	0.512																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(244-246)ttG>ttT		olfactory receptor, family 4, subfamily N, member 4							122	116	118					15																	22382718		2203	4300	6503	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382718G>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.246G>T	15.37:g.22382718G>T	ENSP00000332500:p.Leu82Phe					RP11-69H14.6_ENST00000558896.1_RNA	p.L82F	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	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)	1	337	+		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)	82					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.246G>T	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	11.44	1.639207	0.29157	.	.	ENSG00000183706	ENST00000328795	T	0.00428	7.44	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38217	N	0.001761	T	0.01189	0.0039	M	0.84326	2.69	0.35038	D	0.759431	D	0.89917	1.0	D	0.97110	1.0	T	0.56232	-0.8013	10	0.87932	D	0	-6.9763	12.2756	0.54733	0.0:0.0:1.0:0.0	.	82	Q8N0Y3	OR4N4_HUMAN	F	82	ENSP00000332500:L82F	ENSP00000332500:L82F	L	+	3	2	OR4N4	19884082	0.001000	0.12720	0.998000	0.56505	0.091000	0.18340	0.010000	0.13242	1.793000	0.52555	0.184000	0.17185	TTG		0.512	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			35	125	1	0	3.54909e-21	1	3.94031e-21	35	125					T	22382718	G	T	22382718	3	4	435	1	0	0	0	0	1	0	0	0	11078	1339	47	5	248	5	OR4N4	15	22382718	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08		22382718	80148674	6401	27326											
CYFIP1	23191	broad.mit.edu	37	chr15	22935875	22935875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggtcatgggatttggtCtgtacctgatggatgggagt	7	14	15	5	0	3	1	2	1	1	0	3	4	3	4	1	5	1	1	1	5	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:22935875C>A	ENST00000313077.7	+	9	936	c.811C>A	c.(811-813)Ctg>Atg	p.L271M	CYFIP1_ENST00000560848.1_Missense_Mutation_p.L271M	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											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)		GGGATTTGGTCTGTACCTGAT	0.393																																						ENST00000313077.7																			0				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						c.(811-813)Ctg>Atg		cytoplasmic FMR1 interacting protein 1							211	187	195					15																	22935875		2203	4300	6503	SO:0001583	missense	23191				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	g.chr15:22935875C>A	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.811C>A	15.37:g.22935875C>A	ENSP00000324549:p.Leu271Met					CYFIP1_ENST00000560848.1_Missense_Mutation_p.L271M	p.L271M	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	9	936	+		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)	271						Missense_Mutation	SNP	ENST00000313077.7	37	c.811C>A	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875155	0.51695	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.45276	0.9	5.56	5.56	0.83823	.	0.000000	0.56097	D	0.000034	T	0.60274	0.2256	M	0.61703	1.905	0.80722	D	1	D;P	0.71674	0.998;0.605	D;B	0.75484	0.986;0.332	T	0.59252	-0.7489	10	0.48119	T	0.1	-11.8641	13.2543	0.60070	0.0:0.9178:0.0:0.0822	.	299;271	E7EQ04;Q7L576	.;CYFP1_HUMAN	M	271;299	ENSP00000324549:L271M	ENSP00000324549:L271M	L	+	1	2	CYFIP1	20487316	0.505000	0.26131	0.952000	0.39060	0.996000	0.88848	0.978000	0.29488	2.619000	0.88677	0.555000	0.69702	CTG		0.393	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		5	50	1	0	0.00198382	1	0.0020125	5	50					A	22935875	C	A	22935875	3	1	435	1	0	0	0	0	1	0	0	0	4137	912	32	5	841	5	CYFIP1	15	22935875	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	553157	22935875	79595517	6402	27327											
CYFIP1	23191	broad.mit.edu	37	chr15	22990104	22990104	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacggcagctaccggaacttCgtgggacctccacactttca	9	9	9	14	3	1	0	1	0	0	0	3	2	2	2	3	3	4	2	3	3	3	4	rs145238748		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:22990104C>T	ENST00000313077.7	+	24	2849	c.2724C>T	c.(2722-2724)ttC>ttT	p.F908F	CYFIP1_ENST00000560848.1_Silent_p.F908F|CYFIP1_ENST00000435939.2_Silent_p.F477F	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											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)		ACCGGAACTTCGTGGGACCTC	0.567																																						ENST00000313077.7																			0				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						c.(2722-2724)ttC>ttT		cytoplasmic FMR1 interacting protein 1		C	,	0,4406		0,0,2203	103	96	98		1431,2724	-5.3	0.8	15	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CYFIP1	NM_001033028.1,NM_014608.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	477/823,908/1254	22990104	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23191				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	g.chr15:22990104C>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2724C>T	15.37:g.22990104C>T						CYFIP1_ENST00000560848.1_Silent_p.F908F|CYFIP1_ENST00000435939.2_Silent_p.F477F	p.F908F	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	24	2849	+		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)	908						Silent	SNP	ENST00000313077.7	37	c.2724C>T	CCDS10009.1																																																																																				0.567	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		52	65	0	0	0	1	0	52	65					T	22990104	C	T	22990104	2	4	435	1	0	0	0	0	0	0	0	1	4137	883	31	2		2	CYFIP1	15	22990104	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	54229	22990104	79541288	6403	27328											
CYFIP1	23191	broad.mit.edu	37	chr15	22990197	22990197	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgaaggtcgtcaagagCctggtgagtgttccctggac	7	10	14	10	1	1	3	1	2	0	1	3	4	2	4	2	3	2	2	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:22990197C>T	ENST00000313077.7	+	24	2942	c.2817C>T	c.(2815-2817)agC>agT	p.S939S	CYFIP1_ENST00000560848.1_Silent_p.S939S|CYFIP1_ENST00000435939.2_Silent_p.S508S	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											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)		TCGTCAAGAGCCTGGTGAGTG	0.572																																						ENST00000313077.7																			0				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						c.(2815-2817)agC>agT		cytoplasmic FMR1 interacting protein 1							77	74	75					15																	22990197		2203	4300	6503	SO:0001819	synonymous_variant	23191				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	g.chr15:22990197C>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2817C>T	15.37:g.22990197C>T						CYFIP1_ENST00000560848.1_Silent_p.S939S|CYFIP1_ENST00000435939.2_Silent_p.S508S	p.S939S	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	24	2942	+		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)	939						Silent	SNP	ENST00000313077.7	37	c.2817C>T	CCDS10009.1																																																																																				0.572	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		7	45	0	0	0	1	0	7	45					T	22990197	C	T	22990197	2	4	435	1	0	0	0	0	0	0	0	1	4137	738	26	3		3	CYFIP1	15	22990197	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	93	22990197	79541195	6404	27329											
MAGEL2	54551	broad.mit.edu	37	chr15	23889638	23889638	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgatgataatataggcgtgGtttttggtatcaatttcttt	9	20	9	3	1	2	2	1	2	1	0	2	2	2	2	0	3	0	2	0	3	5	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:23889638G>A	ENST00000532292.1	-	1	1537	c.1443C>T	c.(1441-1443)aaC>aaT	p.N481N		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	364	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			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)		TATAGGCGTGGTTTTTGGTAT	0.423																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1441-1443)aaC>aaT		MAGE-like 2							91	85	87					15																	23889638		1891	4123	6014	SO:0001819	synonymous_variant	54551							g.chr15:23889638G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1443C>T	15.37:g.23889638G>A							p.N481N	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1537	-		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)							Silent	SNP	ENST00000532292.1	37	c.1443C>T		.	.	.	.	.	.	.	.	.	.	G	0.827	-0.746750	0.03065	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.78	-0.477	0.12097	.	.	.	.	.	T	0.23249	0.0562	.	.	.	0.21416	N	0.999695	.	.	.	.	.	.	T	0.26258	-1.0108	4	.	.	.	.	4.196	0.10443	0.3834:0.1678:0.4488:0.0	.	.	.	.	I	513	.	.	T	-	2	0	MAGEL2	21440731	0.170000	0.23016	0.009000	0.14445	0.146000	0.21551	0.170000	0.16663	0.044000	0.15775	0.467000	0.42956	ACC		0.423	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		20	29	0	0	0	1	0	20	29					A	23889638	G	A	23889638	2	1	435	1	0	0	0	0	0	0	0	1	9189	1252	44	3		3	MAGEL2	15	23889638	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	899441	23889638	78641754	6405	27330											
NDN	4692	broad.mit.edu	37	chr15	23931681	23931681	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgagcttccgcacgtccccGaaggtggagtgcttcttcca	7	10	11	13	3	1	1	0	1	1	0	4	3	4	2	4	2	2	3	4	2	1	3	rs149718513		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:23931681G>A	ENST00000331837.4	-	1	769	c.684C>T	c.(682-684)ttC>ttT	p.F228F		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	228	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F228F(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCACGTCCCCGAAGGTGGAGT	0.602									Prader-Willi syndrome																													ENST00000331837.4																			1	Substitution - coding silent(1)	p.F228F(1)	large_intestine(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(682-684)ttC>ttT		necdin, melanoma antigen (MAGE) family member		G		1,4401		0,1,2200	35	34	35		684	0.8	0.6	15	dbSNP_134	35	0,8592		0,0,4296	no	coding-synonymous	NDN	NM_002487.2		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		228/322	23931681	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931681G>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.684C>T	15.37:g.23931681G>A							p.F228F	NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN		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)	1	769	-		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)	228			MAGE.		B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.684C>T	CCDS10014.1																																																																																				0.602	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		14	25	0	0	0	1	0	14	25					A	23931681	G	A	23931681	2	1	435	1	0	0	0	0	0	0	0	1	10247	1049	37	2		2	NDN	15	23931681	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42043	23931681	78599711	6406	27331											
ATP10A	57194	broad.mit.edu	37	chr15	25932910	25932910	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagtagcaccaatgcccGtgaagaatcaagagcctctc	12	6	11	12	2	2	3	1	1	1	2	3	4	2	4	3	1	3	2	3	1	5	1	rs115227702		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:25932910G>A	ENST00000356865.6	-	16	3342	c.3231C>T	c.(3229-3231)caC>caT	p.H1077H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1077					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACCAATGCCCGTGAAGAATCA	0.488													G|||	1	0.000199681	8e-04	0	5008	,	,		19811	0		0	False		,,,				2504	0					ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(3229-3231)caC>caT		ATPase, class V, type 10A							159	147	151					15																	25932910		2203	4300	6503	SO:0001819	synonymous_variant	57194				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	g.chr15:25932910G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3231C>T	15.37:g.25932910G>A							p.H1077H	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	16	3342	-		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)	1077					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.3231C>T	CCDS32178.1																																																																																				0.488	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		37	46	0	0	0	1	0	37	46					A	25932910	G	A	25932910	2	1	435	1	0	0	0	0	0	0	0	1	1116	1136	40	1		1	ATP10A	15	25932910	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2001229	25932910	76598482	6407	27332											
ATP10A	57194	broad.mit.edu	37	chr15	25959378	25959378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggacttcagctcaaacCtcaccctcacctgcaagaga	11	6	8	16	1	4	1	4	0	0	1	4	3	4	2	4	2	3	2	4	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:25959378C>A	ENST00000356865.6	-	10	1898	c.1787G>T	c.(1786-1788)aGg>aTg	p.R596M		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	596					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CAGCTCAAACCTCACCCTCAC	0.602																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(1786-1788)aGg>aTg		ATPase, class V, type 10A							31	35	34					15																	25959378		2193	4286	6479	SO:0001583	missense	57194				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	g.chr15:25959378C>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1787G>T	15.37:g.25959378C>A	ENSP00000349325:p.Arg596Met						p.R596M	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	1898	-		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)	596					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.1787G>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466428	0.63625	.	.	ENSG00000206190	ENST00000356865	T	0.11169	2.8	4.62	3.68	0.42216	HAD-like domain (1);	0.136893	0.64402	D	0.000009	T	0.30355	0.0762	M	0.70595	2.14	0.45747	D	0.998641	D	0.69078	0.997	D	0.70227	0.968	T	0.04103	-1.0977	10	0.46703	T	0.11	-24.5077	14.6584	0.68850	0.0:0.8538:0.1462:0.0	.	596	O60312	AT10A_HUMAN	M	596	ENSP00000349325:R596M	ENSP00000349325:R596M	R	-	2	0	ATP10A	23510471	1.000000	0.71417	0.553000	0.28255	0.945000	0.59286	3.814000	0.55643	1.137000	0.42214	0.655000	0.94253	AGG		0.602	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		15	25	1	0	1.02788e-11	1	1.10723e-11	15	25					A	25959378	C	A	25959378	3	1	435	1	0	0	0	0	1	0	0	0	1116	681	24	5	2760	5	ATP10A	15	25959378	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26468	25959378	76572014	6408	27333											
ATP10A	57194	broad.mit.edu	37	chr15	25981214	25981214	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatactcacatgcagccgcgAaacctactcaggtcgttgtt	10	10	9	12	3	2	0	2	0	0	0	3	2	2	0	2	1	5	3	2	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:25981214A>G	ENST00000356865.6	-	3	840	c.729T>C	c.(727-729)ttT>ttC	p.F243F	RNA5SP390_ENST00000410191.1_RNA	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	243					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGCAGCCGCGAAACCTACTCA	0.453																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(727-729)ttT>ttC		ATPase, class V, type 10A							155	105	122					15																	25981214		2203	4300	6503	SO:0001819	synonymous_variant	57194				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	g.chr15:25981214A>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.729T>C	15.37:g.25981214A>G							p.F243F	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	3	840	-		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)	243					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.729T>C	CCDS32178.1																																																																																				0.453	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		19	22	0	0	0	1	0	19	22					G	25981214	A	G	25981214	2	3	435	1	0	0	0	0	0	0	0	1	1116	243	9	4		4	ATP10A	15	25981214	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	21836	25981214	76550178	6409	27334											
GABRA5	2558	broad.mit.edu	37	chr15	27188527	27188527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caattactttaccaagagagGctgggcctgggatggcaaaa	13	8	12	8	0	0	1	0	0	0	1	0	3	0	2	2	4	2	2	2	4	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:27188527G>A	ENST00000335625.5	+	10	1931	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	GABRA5_ENST00000355395.5_Missense_Mutation_p.G348D|GABRA5_ENST00000400081.3_Missense_Mutation_p.G348D	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	348					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.G348D(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	ACCAAGAGAGGCTGGGCCTGG	0.527																																						ENST00000335625.5																			1	Substitution - Missense(1)	p.G348D(1)	lung(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(1042-1044)gGc>gAc		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						33	37	36					15																	27188527		1984	4191	6175	SO:0001583	missense	2558				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	g.chr15:27188527G>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1043G>A	15.37:g.27188527G>A	ENSP00000335592:p.Gly348Asp					GABRA5_ENST00000355395.5_Missense_Mutation_p.G348D|GABRA5_ENST00000400081.3_Missense_Mutation_p.G348D	p.G348D	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	10	1931	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	348					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.1043G>A	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	-	27.4	4.827546	0.90955	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.85258	-1.96;-1.96;-1.96	5.27	5.27	0.74061	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.083751	0.85682	D	0.000000	T	0.82093	0.4962	N	0.12502	0.225	0.50632	D	0.999887	P	0.40909	0.732	P	0.51550	0.673	T	0.80197	-0.1482	10	0.25106	T	0.35	.	18.2599	0.90031	0.0:0.0:1.0:0.0	.	348	P31644	GBRA5_HUMAN	D	348	ENSP00000335592:G348D;ENSP00000347557:G348D;ENSP00000382953:G348D	ENSP00000335592:G348D	G	+	2	0	GABRA5	24771273	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.592000	0.98245	2.626000	0.88956	0.651000	0.88453	GGC		0.527	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			6	6	0	0	0	1	0	6	6					A	27188527	G	A	27188527	3	1	435	1	0	0	0	0	1	0	0	0	6164	1203	42	3	1073	3	GABRA5	15	27188527	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1207313	27188527	75342865	6410	27335											
GABRG3	2567	broad.mit.edu	37	chr15	27725917	27725917	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagaaacaccacagaaatCgtgacaacgtctgcaggtag	15	6	9	11	2	2	3	1	1	1	2	3	3	2	3	1	1	3	2	1	1	4	1	rs77771286	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:27725917C>T	ENST00000333743.6	+	6	950	c.696C>T	c.(694-696)atC>atT	p.I232I	GABRG3_ENST00000555083.1_Silent_p.I232I|RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	232					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			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)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCACAGAAATCGTGACAACGT	0.443													C|||	13	0.00259585	0	0.0029	5008	,	,		15354	0		0.008	False		,,,				2504	0.0031				NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6																			0				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						c.(694-696)atC>atT		gamma-aminobutyric acid (GABA) A receptor, gamma 3		C		7,3769		0,7,1881	54	54	54		696	-4.5	0.2	15	dbSNP_131	54	84,8170		1,82,4044	no	coding-synonymous	GABRG3	NM_033223.4		1,89,5925	TT,TC,CC		1.0177,0.1854,0.7564		232/468	27725917	91,11939	1888	4127	6015	SO:0001819	synonymous_variant	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27725917C>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.696C>T	15.37:g.27725917C>T						GABRG3_ENST00000555083.1_Silent_p.I232I	p.I232I	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	6	950	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	232					G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	c.696C>T	CCDS45195.1																																																																																				0.443	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			7	8	0	0	0	1	0	7	8					T	27725917	C	T	27725917	2	4	435	1	0	0	0	0	0	0	0	1	6173	874	31	2		2	GABRG3	15	27725917	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	537390	27725917	74805475	6411	27336											
OCA2	4948	broad.mit.edu	37	chr15	28259961	28259961	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacgcccgcgaggatggcCgtcgcgatggtcacctgggt	6	7	16	12	6	1	1	1	0	0	1	2	4	1	2	3	4	0	0	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28259961C>T	ENST00000354638.3	-	9	1160	c.1005G>A	c.(1003-1005)acG>acA	p.T335T	OCA2_ENST00000353809.5_Silent_p.T335T|OCA2_ENST00000382996.2_Silent_p.T335T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	335					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			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)		CGAGGATGGCCGTCGCGATGG	0.597									Oculocutaneous Albinism																													ENST00000354638.3																			0				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						c.(1003-1005)acG>acA		oculocutaneous albinism II							87	76	79					15																	28259961		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		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	g.chr15:28259961C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1005G>A	15.37:g.28259961C>T						OCA2_ENST00000353809.5_Silent_p.T335T|OCA2_ENST00000382996.2_Silent_p.T335T	p.T335T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	9	1160	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	335					Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.1005G>A	CCDS10020.1																																																																																				0.597	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		8	7	0	0	0	1	0	8	7					T	28259961	C	T	28259961	2	4	435	1	0	0	0	0	0	0	0	1	10815	639	23	2		2	OCA2	15	28259961	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	534044	28259961	74271431	6412	27337											
OCA2	4948	broad.mit.edu	37	chr15	28260033	28260033	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcaaaagagggacagcctgGgtctgctgcagggaggcccg	10	5	16	10	1	2	1	1	0	1	1	2	3	2	3	2	4	3	2	2	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28260033G>T	ENST00000354638.3	-	9	1088	c.933C>A	c.(931-933)acC>acA	p.T311T	OCA2_ENST00000353809.5_Silent_p.T311T|OCA2_ENST00000382996.2_Silent_p.T311T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	311					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			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)		GGACAGCCTGGGTCTGCTGCA	0.587									Oculocutaneous Albinism																													ENST00000354638.3																			0				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						c.(931-933)acC>acA		oculocutaneous albinism II							105	80	88					15																	28260033		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		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	g.chr15:28260033G>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.933C>A	15.37:g.28260033G>T						OCA2_ENST00000353809.5_Silent_p.T311T|OCA2_ENST00000382996.2_Silent_p.T311T	p.T311T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	9	1088	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	311					Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.933C>A	CCDS10020.1																																																																																				0.587	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		3	17	1	0	0.004672	1	0.00472505	3	17					T	28260033	G	T	28260033	2	4	435	1	0	0	0	0	0	0	0	1	10815	1219	43	5		5	OCA2	15	28260033	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	72	28260033	74271359	6413	27338											
HERC2	8924	broad.mit.edu	37	chr15	28369237	28369237	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgaacccaacagaaggcccGagtccagtttcgtcgagcga	11	6	11	13	5	0	1	0	0	0	1	4	5	1	1	3	1	3	1	3	1	3	1	rs562699983		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28369237G>A	ENST00000261609.7	-	85	13242	c.13134C>T	c.(13132-13134)ctC>ctT	p.L4378L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		CAGAAGGCCCGAGTCCAGTTT	0.562													g|||	1	0.000199681	0	0	5008	,	,		17577	0		0	False		,,,				2504	0.001					ENST00000261609.7																			0				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						c.(13132-13134)ctC>ctT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							97	91	93					15																	28369237		2203	4300	6503	SO:0001819	synonymous_variant	8924				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	g.chr15:28369237G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.13134C>T	15.37:g.28369237G>A							p.L4378L	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		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)	85	13242	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4378						Silent	SNP	ENST00000261609.7	37	c.13134C>T	CCDS10021.1																																																																																				0.562	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		29	38	0	0	0	1	0	29	38					A	28369237	G	A	28369237	2	1	435	1	0	0	0	0	0	0	0	1	7058	1045	37	2		2	HERC2	15	28369237	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	109204	28369237	74162155	6414	27339											
HERC2	8924	broad.mit.edu	37	chr15	28414705	28414705	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatttccatccaatgacAagagaatcttggcaagagaa	16	8	8	9	0	1	4	0	1	1	3	3	6	3	4	3	1	0	1	3	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28414705A>G	ENST00000261609.7	-	66	10262	c.10154T>C	c.(10153-10155)tTg>tCg	p.L3385S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		ATCCAATGACAAGAGAATCTT	0.418																																						ENST00000261609.7																			0				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						c.(10153-10155)tTg>tCg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							89	85	86					15																	28414705		2203	4300	6503	SO:0001583	missense	8924				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	g.chr15:28414705A>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10154T>C	15.37:g.28414705A>G	ENSP00000261609:p.Leu3385Ser						p.L3385S	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		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)	66	10262	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3385						Missense_Mutation	SNP	ENST00000261609.7	37	c.10154T>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334860	0.81801	.	.	ENSG00000128731	ENST00000261609	T	0.58210	0.35	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	T	0.71762	0.3378	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.74191	-0.3745	10	0.59425	D	0.04	.	16.1482	0.81586	1.0:0.0:0.0:0.0	.	3385	O95714	HERC2_HUMAN	S	3385	ENSP00000261609:L3385S	ENSP00000261609:L3385S	L	-	2	0	HERC2	26088300	1.000000	0.71417	0.376000	0.26042	0.831000	0.47069	9.029000	0.93718	2.272000	0.75746	0.523000	0.50628	TTG		0.418	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		24	38	0	0	0	1	0	24	38					G	28414705	A	G	28414705	3	3	435	1	0	0	0	0	1	0	0	0	7058	131	5	4	4462	4	HERC2	15	28414705	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	45468	28414705	74116687	6415	27340											
HERC2	8924	broad.mit.edu	37	chr15	28473394	28473394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgccgtctgcgtgagggCcagcatgccggaattgagca	8	7	15	11	3	1	2	0	2	1	0	1	3	1	3	3	2	5	2	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28473394C>T	ENST00000261609.7	-	35	5542	c.5434G>A	c.(5434-5436)Gcc>Acc	p.A1812T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		TGCGTGAGGGCCAGCATGCCG	0.552																																						ENST00000261609.7																			0				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						c.(5434-5436)Gcc>Acc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							64	50	55					15																	28473394		2203	4300	6503	SO:0001583	missense	8924				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	g.chr15:28473394C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5434G>A	15.37:g.28473394C>T	ENSP00000261609:p.Ala1812Thr						p.A1812T	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		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)	35	5542	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1812						Missense_Mutation	SNP	ENST00000261609.7	37	c.5434G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207402	0.79240	.	.	ENSG00000128731	ENST00000261609	T	0.40225	1.04	4.21	4.21	0.49690	.	0.119928	0.56097	D	0.000039	T	0.55800	0.1943	L	0.40543	1.245	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.60772	-0.7197	10	0.72032	D	0.01	.	17.1056	0.86662	0.0:1.0:0.0:0.0	.	1812	O95714	HERC2_HUMAN	T	1812	ENSP00000261609:A1812T	ENSP00000261609:A1812T	A	-	1	0	HERC2	26146989	1.000000	0.71417	0.927000	0.36925	0.333000	0.28666	7.241000	0.78201	2.315000	0.78130	0.555000	0.69702	GCC		0.552	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		11	17	0	0	0	1	0	11	17					T	28473394	C	T	28473394	3	4	435	1	0	0	0	0	1	0	0	0	7058	739	26	3	9306	3	HERC2	15	28473394	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	58689	28473394	74057998	6416	27341											
HERC2	8924	broad.mit.edu	37	chr15	28483299	28483299	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaaacgcgtgcatggattcCcgggtgtcttcaaactgcaa	11	9	10	11	3	2	0	1	0	1	0	3	1	3	1	1	2	4	2	1	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28483299C>T	ENST00000261609.7	-	25	3921	c.3813G>A	c.(3811-3813)cgG>cgA	p.R1271R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		GCATGGATTCCCGGGTGTCTT	0.493																																						ENST00000261609.7																			0				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						c.(3811-3813)cgG>cgA		HECT and RLD domain containing E3 ubiquitin protein ligase 2							71	69	70					15																	28483299		2203	4284	6487	SO:0001819	synonymous_variant	8924				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	g.chr15:28483299C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3813G>A	15.37:g.28483299C>T							p.R1271R	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		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)	25	3921	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1271			Cytochrome b5 heme-binding.			Silent	SNP	ENST00000261609.7	37	c.3813G>A	CCDS10021.1																																																																																				0.493	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		29	50	0	0	0	1	0	29	50					T	28483299	C	T	28483299	2	4	435	1	0	0	0	0	0	0	0	1	7058	610	22	3		3	HERC2	15	28483299	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9905	28483299	74048093	6417	27342											
HERC2	8924	broad.mit.edu	37	chr15	28483803	28483803	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcctttatatcatacacCttcccgtcaatcacagtcca	12	12	3	14	1	3	0	3	0	0	0	6	0	6	0	4	0	1	0	4	0	5	5	rs567072767		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28483803C>T	ENST00000261609.7	-	24	3801	c.3693G>A	c.(3691-3693)aaG>aaA	p.K1231K		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		TATCATACACCTTCCCGTCAA	0.373																																						ENST00000261609.7																			0				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						c.(3691-3693)aaG>aaA		HECT and RLD domain containing E3 ubiquitin protein ligase 2							73	67	69					15																	28483803		2203	4300	6503	SO:0001819	synonymous_variant	8924				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	g.chr15:28483803C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3693G>A	15.37:g.28483803C>T							p.K1231K	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		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)	24	3801	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1231			Cytochrome b5 heme-binding.			Silent	SNP	ENST00000261609.7	37	c.3693G>A	CCDS10021.1																																																																																				0.373	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		3	45	0	0	0	1	0	3	45					T	28483803	C	T	28483803	2	4	435	1	0	0	0	0	0	0	0	1	7058	680	24	3		3	HERC2	15	28483803	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	504	28483803	74047589	6418	27343											
HERC2	8924	broad.mit.edu	37	chr15	28501363	28501363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagcacgcccgcactgctgGccagggtcaccaccgtctgc	6	6	11	18	3	3	0	2	0	1	0	3	0	3	0	4	2	3	3	4	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28501363G>A	ENST00000261609.7	-	18	2726	c.2618C>T	c.(2617-2619)gCc>gTc	p.A873V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		CGCACTGCTGGCCAGGGTCAC	0.662																																						ENST00000261609.7																			0				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						c.(2617-2619)gCc>gTc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							18	19	18					15																	28501363		2182	4225	6407	SO:0001583	missense	8924				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	g.chr15:28501363G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.2618C>T	15.37:g.28501363G>A	ENSP00000261609:p.Ala873Val						p.A873V	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		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)	18	2726	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	873						Missense_Mutation	SNP	ENST00000261609.7	37	c.2618C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687395	0.88639	.	.	ENSG00000128731	ENST00000261609	T	0.46063	0.88	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.65954	0.2741	M	0.79475	2.455	0.80722	D	1	D	0.63880	0.993	D	0.65443	0.935	T	0.67875	-0.5557	10	0.51188	T	0.08	.	19.0185	0.92903	0.0:0.0:1.0:0.0	.	873	O95714	HERC2_HUMAN	V	873	ENSP00000261609:A873V	ENSP00000261609:A873V	A	-	2	0	HERC2	26174958	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	9.806000	0.99153	2.500000	0.84329	0.539000	0.68188	GCC		0.662	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		6	8	0	0	0	1	0	6	8					A	28501363	G	A	28501363	3	1	435	1	0	0	0	0	1	0	0	0	7058	1203	42	3	12190	3	HERC2	15	28501363	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17560	28501363	74030029	6419	27344											
HERC2	8924	broad.mit.edu	37	chr15	28502369	28502369	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accacaaaagggacacggagGccaatggaccactcagaaca	17	2	10	12	1	1	1	1	0	0	1	1	4	1	4	3	4	1	0	3	4	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28502369G>A	ENST00000261609.7	-	17	2463	c.2355C>T	c.(2353-2355)ggC>ggT	p.G785G		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		GGACACGGAGGCCAATGGACC	0.512																																						ENST00000261609.7																			0				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						c.(2353-2355)ggC>ggT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							53	41	45					15																	28502369		2203	4300	6503	SO:0001819	synonymous_variant	8924				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	g.chr15:28502369G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.2355C>T	15.37:g.28502369G>A							p.G785G	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		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)	17	2463	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	785						Silent	SNP	ENST00000261609.7	37	c.2355C>T	CCDS10021.1																																																																																				0.512	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		6	7	0	0	0	1	0	6	7					A	28502369	G	A	28502369	2	1	435	1	0	0	0	0	0	0	0	1	7058	1190	42	3		3	HERC2	15	28502369	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1006	28502369	74029023	6420	27345											
HERC2	8924	broad.mit.edu	37	chr15	28510859	28510859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggctaccagcatcggaatgGcctcgtcctcactggagcct	7	8	11	15	3	1	0	1	0	0	0	4	2	2	2	4	4	3	2	4	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28510859G>A	ENST00000261609.7	-	14	1883	c.1775C>T	c.(1774-1776)gCc>gTc	p.A592V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		CATCGGAATGGCCTCGTCCTC	0.572																																						ENST00000261609.7																			0				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						c.(1774-1776)gCc>gTc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							154	109	125					15																	28510859		2203	4300	6503	SO:0001583	missense	8924				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	g.chr15:28510859G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1775C>T	15.37:g.28510859G>A	ENSP00000261609:p.Ala592Val						p.A592V	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		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)	14	1883	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	592						Missense_Mutation	SNP	ENST00000261609.7	37	c.1775C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479818	0.44044	.	.	ENSG00000128731	ENST00000261609	D	0.84944	-1.92	5.62	4.68	0.58851	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.105153	0.64402	N	0.000007	T	0.75391	0.3843	L	0.28014	0.82	0.33820	D	0.628962	B	0.06786	0.001	B	0.10450	0.005	T	0.73600	-0.3931	10	0.17832	T	0.49	.	12.8752	0.57986	0.0826:0.0:0.9174:0.0	.	592	O95714	HERC2_HUMAN	V	592	ENSP00000261609:A592V	ENSP00000261609:A592V	A	-	2	0	HERC2	26184454	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.538000	0.82048	1.441000	0.47550	0.650000	0.86243	GCC		0.572	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		18	18	0	0	0	1	0	18	18					A	28510859	G	A	28510859	3	1	435	1	0	0	0	0	1	0	0	0	7058	1203	42	3	13049	3	HERC2	15	28510859	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8490	28510859	74020533	6421	27346											
HERC2	8924	broad.mit.edu	37	chr15	28538078	28538078	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagaattgacttggccCtatatataggtgcaggagtt	10	13	11	7	0	0	2	0	1	0	1	1	3	1	3	2	3	1	2	2	3	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28538078C>A	ENST00000261609.7	-	4	386	c.278G>T	c.(277-279)aGg>aTg	p.R93M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R93M(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGACTTGGCCCTATATATAGG	0.413																																						ENST00000261609.7																			1	Substitution - Missense(1)	p.R93M(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(277-279)aGg>aTg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							46	46	46					15																	28538078		2203	4297	6500	SO:0001583	missense	8924				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	g.chr15:28538078C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.278G>T	15.37:g.28538078C>A	ENSP00000261609:p.Arg93Met						p.R93M	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		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)	4	386	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	93						Missense_Mutation	SNP	ENST00000261609.7	37	c.278G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797552	0.31777	.	.	ENSG00000128731	ENST00000261609	T	0.38560	1.13	4.78	4.78	0.61160	.	0.166881	0.43919	D	0.000512	T	0.23846	0.0577	N	0.08118	0	0.34048	D	0.655819	P	0.44090	0.826	B	0.40199	0.322	T	0.38672	-0.9650	10	0.48119	T	0.1	.	11.3557	0.49615	0.0:0.9167:0.0:0.0833	.	93	O95714	HERC2_HUMAN	M	93	ENSP00000261609:R93M	ENSP00000261609:R93M	R	-	2	0	HERC2	26211673	0.052000	0.20516	0.674000	0.29902	0.673000	0.39480	1.028000	0.30128	2.209000	0.71365	0.650000	0.86243	AGG		0.413	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		10	11	1	0	3.07112e-06	1	3.18879e-06	10	11					A	28538078	C	A	28538078	3	1	435	1	0	0	0	0	1	0	0	0	7058	681	24	5	14586	5	HERC2	15	28538078	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27219	28538078	73993314	6422	27347											
APBA2	321	broad.mit.edu	37	chr15	29346241	29346241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctggagctggctgccctgCggccagagagccccgcgcca	5	4	15	17	3	0	1	0	0	0	1	0	3	0	2	6	3	4	2	6	3	0	0	rs575379564		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:29346241C>T	ENST00000558402.1	+	5	753	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	APBA2_ENST00000558259.1_Missense_Mutation_p.R52W|APBA2_ENST00000558330.1_Missense_Mutation_p.R52W|APBA2_ENST00000411764.1_Missense_Mutation_p.R52W|APBA2_ENST00000561069.1_Missense_Mutation_p.R52W			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	52					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGCTGCCCTGCGGCCAGAGAG	0.657																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(154-156)Cgg>Tgg		amyloid beta (A4) precursor protein-binding, family A, member 2							48	58	55					15																	29346241		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29346241C>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.154C>T	15.37:g.29346241C>T	ENSP00000453293:p.Arg52Trp					APBA2_ENST00000411764.1_Missense_Mutation_p.R52W|APBA2_ENST00000561069.1_Missense_Mutation_p.R52W|APBA2_ENST00000558330.1_Missense_Mutation_p.R52W|APBA2_ENST00000558259.1_Missense_Mutation_p.R52W	p.R52W			Q99767	APBA2_HUMAN		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)	5	753	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	52					E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.154C>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998797	0.54147	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.49720	0.77	5.25	-0.682	0.11339	.	0.363928	0.24851	N	0.035100	T	0.45054	0.1323	M	0.66939	2.045	0.09310	N	0.999999	D;D;D	0.60160	0.987;0.973;0.973	P;P;P	0.48677	0.586;0.483;0.483	T	0.40213	-0.9575	10	0.87932	D	0	.	4.2578	0.10726	0.5795:0.2278:0.1058:0.0868	.	52;52;52	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	W	52	ENSP00000409312:R52W	ENSP00000219865:R52W	R	+	1	2	APBA2	27133533	0.010000	0.17322	0.018000	0.16275	0.726000	0.41606	0.341000	0.19909	0.153000	0.19213	0.650000	0.86243	CGG		0.657	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		20	33	0	0	0	1	0	20	33					T	29346241	C	T	29346241	3	4	435	1	0	0	0	0	1	0	0	0	757	759	27	1	156	1	APBA2	15	29346241	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	808163	29346241	73185151	6423	27348											
TRPM1	4308	broad.mit.edu	37	chr15	31294080	31294080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacctttttttcttctgctGtcattccagacacaattact	9	18	3	11	0	3	1	1	0	2	1	4	1	4	1	2	0	3	1	2	0	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:31294080G>A	ENST00000256552.6	-	28	4970	c.4823C>T	c.(4822-4824)aCa>aTa	p.T1608I	TRPM1_ENST00000397795.2_Missense_Mutation_p.T1586I|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.T1625I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											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)		TTCTTCTGCTGTCATTCCAGA	0.363																																						ENST00000542188.1																			0				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						c.(4873-4875)aCa>aTa		transient receptor potential cation channel, subfamily M, member 1							97	88	91					15																	31294080		1846	4090	5936	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294080G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4823C>T	15.37:g.31294080G>A	ENSP00000256552:p.Thr1608Ile					TRPM1_ENST00000256552.6_Missense_Mutation_p.T1608I|TRPM1_ENST00000397795.2_Missense_Mutation_p.T1586I	p.T1625I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		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)	27	5187	-		all_lung(180;1.92e-11)	1586						Missense_Mutation	SNP	ENST00000256552.6	37	c.4874C>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384196	0.25031	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.50813	0.75;0.73;0.76	4.87	1.57	0.23409	.	0.934831	0.09053	N	0.855600	T	0.43809	0.1264	N	0.19112	0.55	0.09310	N	1	D;P	0.56968	0.978;0.629	P;B	0.56216	0.794;0.218	T	0.29518	-1.0009	10	0.59425	D	0.04	-3.6057	5.9428	0.19201	0.1471:0.0:0.5639:0.2889	.	1580;1586	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	I	1586;1625;1608;1586	ENSP00000380897:T1586I;ENSP00000437849:T1625I;ENSP00000256552:T1608I	ENSP00000256552:T1608I	T	-	2	0	TRPM1	29081372	0.022000	0.18835	0.000000	0.03702	0.033000	0.12548	2.126000	0.42026	0.484000	0.27630	0.563000	0.77884	ACA		0.363	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		15	34	0	0	0	1	0	15	34					A	31294080	G	A	31294080	3	1	435	1	0	0	0	0	1	0	0	0	16582	1377	48	3	58	3	TRPM1	15	31294080	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1947839	31294080	71237312	6424	27349											
TRPM1	4308	broad.mit.edu	37	chr15	31327752	31327752	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttggagtagccacctcTcgtatcttctctaacgccag	7	12	8	14	2	3	0	0	0	3	0	5	1	3	1	4	1	2	2	4	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:31327752T>C	ENST00000256552.6	-	21	2844	c.2697A>G	c.(2695-2697)cgA>cgG	p.R899R	TRPM1_ENST00000397795.2_Silent_p.R877R|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Silent_p.R916R	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											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)		TAGCCACCTCTCGTATCTTCT	0.517																																						ENST00000542188.1																			0				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						c.(2746-2748)cgA>cgG		transient receptor potential cation channel, subfamily M, member 1							73	75	74					15																	31327752		2056	4194	6250	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31327752T>C	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2697A>G	15.37:g.31327752T>C						RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Silent_p.R899R|TRPM1_ENST00000397795.2_Silent_p.R877R|RP11-348B17.1_ENST00000558755.1_RNA	p.R916R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		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)	20	3061	-		all_lung(180;1.92e-11)	877						Silent	SNP	ENST00000256552.6	37	c.2748A>G	CCDS58346.1																																																																																				0.517	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		13	29	0	0	0	1	0	13	29					C	31327752	T	C	31327752	2	2	435	1	0	0	0	0	0	0	0	1	16582	1538	54	4		4	TRPM1	15	31327752	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	33672	31327752	71203640	6425	27350											
TRPM1	4308	broad.mit.edu	37	chr15	31352794	31352794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttcgtgctatgtccaCgcggttccaagccagtgcca	6	10	11	14	3	0	0	0	0	0	0	3	0	2	0	4	2	3	3	4	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:31352794C>T	ENST00000256552.6	-	11	1363	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M	TRPM1_ENST00000397795.2_Missense_Mutation_p.V384M|TRPM1_ENST00000542188.1_Missense_Mutation_p.V423M	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											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)		GCTATGTCCACGCGGTTCCAA	0.483																																						ENST00000542188.1																			0				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						c.(1267-1269)Gtg>Atg		transient receptor potential cation channel, subfamily M, member 1							63	68	67					15																	31352794		1994	4187	6181	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31352794C>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1216G>A	15.37:g.31352794C>T	ENSP00000256552:p.Val406Met					TRPM1_ENST00000256552.6_Missense_Mutation_p.V406M|TRPM1_ENST00000397795.2_Missense_Mutation_p.V384M	p.V423M	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		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)	10	1580	-		all_lung(180;1.92e-11)	384						Missense_Mutation	SNP	ENST00000256552.6	37	c.1267G>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188035	0.78789	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.63913	-0.07;-0.07;-0.07	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.79639	0.4480	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	T	0.81536	-0.0888	10	0.87932	D	0	-27.058	19.1166	0.93343	0.0:1.0:0.0:0.0	.	378;384	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	M	384;423;406;384	ENSP00000380897:V384M;ENSP00000437849:V423M;ENSP00000256552:V406M	ENSP00000256552:V406M	V	-	1	0	TRPM1	29140086	1.000000	0.71417	0.112000	0.21494	0.579000	0.36224	7.818000	0.86416	2.530000	0.85305	0.655000	0.94253	GTG		0.483	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		7	16	0	0	0	1	0	7	16					T	31352794	C	T	31352794	3	4	435	1	0	0	0	0	1	0	0	0	16582	536	19	1	3733	1	TRPM1	15	31352794	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25042	31352794	71178598	6426	27351											
TRPM1	4308	broad.mit.edu	37	chr15	31359373	31359373	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtctttcaaggcatcccCtacgtggctgataacacctg	8	11	10	12	1	2	1	1	1	1	0	3	1	3	1	3	3	2	2	3	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:31359373C>A	ENST00000256552.6	-	6	658	c.511G>T	c.(511-513)Ggg>Tgg	p.G171W	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.G149W|TRPM1_ENST00000542188.1_Missense_Mutation_p.G188W	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											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)		AAGGCATCCCCTACGTGGCTG	0.498																																						ENST00000542188.1																			0				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						c.(562-564)Ggg>Tgg		transient receptor potential cation channel, subfamily M, member 1							116	115	115					15																	31359373		1921	4123	6044	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31359373C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.511G>T	15.37:g.31359373C>A	ENSP00000256552:p.Gly171Trp					TRPM1_ENST00000256552.6_Missense_Mutation_p.G171W|TRPM1_ENST00000397795.2_Missense_Mutation_p.G149W	p.G188W	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		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)	5	875	-		all_lung(180;1.92e-11)	149						Missense_Mutation	SNP	ENST00000256552.6	37	c.562G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991946	0.93167	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.18174	2.23;2.23;2.23	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.56834	0.2012	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.65726	-0.6098	10	0.87932	D	0	-36.9257	20.7342	0.99715	0.0:1.0:0.0:0.0	.	149;149	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	W	149;188;171;149	ENSP00000380897:G149W;ENSP00000437849:G188W;ENSP00000256552:G171W	ENSP00000256552:G171W	G	-	1	0	TRPM1	29146665	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.811000	0.86092	2.906000	0.99361	0.655000	0.94253	GGG		0.498	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		4	66	1	0	0.150653	1	0.151081	4	66					A	31359373	C	A	31359373	3	1	435	1	0	0	0	0	1	0	0	0	16582	681	24	5	4458	5	TRPM1	15	31359373	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6579	31359373	71172019	6427	27352											
KLF13	51621	broad.mit.edu	37	chr15	31664246	31664246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgcagctggcaggactGcaacaagaagttcgcgcgct	9	6	13	13	4	0	1	0	0	0	1	1	2	0	2	1	2	4	6	1	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:31664246G>A	ENST00000307145.3	+	2	969	c.611G>A	c.(610-612)tGc>tAc	p.C204Y	KLF13_ENST00000560473.1_Missense_Mutation_p.C16Y	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	204					negative regulation of cell proliferation (GO:0008285)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		TGGCAGGACTGCAACAAGAAG	0.642																																						ENST00000307145.3																			0				NS(1)|breast(1)	2						c.(610-612)tGc>tAc		Kruppel-like factor 13							24	22	23					15																	31664246		2200	4299	6499	SO:0001583	missense	51621				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr15:31664246G>A	AF132599	CCDS10025.1	15q13.3	2013-01-08			ENSG00000169926	ENSG00000169926		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	13672	protein-coding gene	gene with protein product		605328				10415854, 10023774	Standard	NM_015995		Approved	RFLAT-1, BTEB3, NSLP1, FKLF-2	uc001zfo.3	Q9Y2Y9	OTTHUMG00000172224	ENST00000307145.3:c.611G>A	15.37:g.31664246G>A	ENSP00000302456:p.Cys204Tyr					KLF13_ENST00000560473.1_Missense_Mutation_p.C16Y	p.C204Y	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)	2	969	+		all_lung(180;3.71e-11)	204					Q9Y356	Missense_Mutation	SNP	ENST00000307145.3	37	c.611G>A	CCDS10025.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132283	0.94473	.	.	ENSG00000169926	ENST00000307145	D	0.98849	-5.18	5.07	5.07	0.68467	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	D	0.99527	0.9831	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97903	1.0304	10	0.87932	D	0	.	18.8007	0.92015	0.0:0.0:1.0:0.0	.	204	Q9Y2Y9	KLF13_HUMAN	Y	204	ENSP00000302456:C204Y	ENSP00000302456:C204Y	C	+	2	0	KLF13	29451538	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.260000	0.95568	2.516000	0.84829	0.655000	0.94253	TGC		0.642	KLF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251381.1	NM_015995		3	6	0	0	0	1	0	3	6					A	31664246	G	A	31664246	3	1	435	1	0	0	0	0	1	0	0	0	8341	1319	46	3	617	3	KLF13	15	31664246	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	304873	31664246	70867146	6428	27353											
OTUD7A	161725	broad.mit.edu	37	chr15	31851385	31851385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatcccccgggaaagccGcttttctgcagggggagaag	10	6	15	10	2	1	1	0	0	1	1	2	4	2	3	3	4	2	2	3	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:31851385G>A	ENST00000307050.4	-	3	429	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	OTUD7A_ENST00000382902.1_Missense_Mutation_p.R113W	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	113					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R113W(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CGGGAAAGCCGCTTTTCTGCA	0.557																																						ENST00000382902.1																			1	Substitution - Missense(1)	p.R113W(1)	large_intestine(1)	endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(337-339)Cgg>Tgg		OTU domain containing 7A							32	31	32					15																	31851385		2201	4300	6501	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31851385G>A	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"OTU domain containing"	20718	protein-coding gene	gene with protein product		612024	"chromosome 15 open reading frame 16", "OTU domain containing 7", "OTU domain containing 7A"	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.337C>T	15.37:g.31851385G>A	ENSP00000305926:p.Arg113Trp					OTUD7A_ENST00000307050.4_Missense_Mutation_p.R113W	p.R113W			Q8TE49	OTU7A_HUMAN		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)	3	429	-		all_lung(180;1.6e-09)	113					Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.337C>T	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114354	0.77210	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.37584	1.19;1.19	5.75	5.75	0.90469	.	0.108661	0.64402	D	0.000007	T	0.57946	0.2088	M	0.66939	2.045	0.46725	D	0.999175	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.59731	-0.7399	10	0.87932	D	0	-14.9731	13.4104	0.60940	0.0:0.0:0.7255:0.2745	.	113;113	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	W	113	ENSP00000305926:R113W;ENSP00000372358:R113W	ENSP00000305926:R113W	R	-	1	2	OTUD7A	29638677	1.000000	0.71417	0.997000	0.53966	0.806000	0.45545	5.678000	0.68153	2.695000	0.91970	0.561000	0.74099	CGG		0.557	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		6	16	0	0	0	1	0	6	16					A	31851385	G	A	31851385	3	1	435	1	0	0	0	0	1	0	0	0	11318	1086	38	1	2479	1	OTUD7A	15	31851385	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	187139	31851385	70680007	6429	27354											
GREM1	26585	broad.mit.edu	37	chr15	33023238	33023238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtcgcaccatcatcaaccGcttctgttacggccagtgca	9	9	8	15	3	3	0	2	0	1	0	4	0	3	0	3	1	3	4	3	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:33023238G>A	ENST00000300177.4	+	2	536	c.347G>A	c.(346-348)cGc>cAc	p.R116H	GREM1_ENST00000560677.1_3'UTR|GREM1_ENST00000322805.4_Missense_Mutation_p.R75H|GREM1_ENST00000560830.1_Missense_Mutation_p.R75H	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	116	CTCK.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.R116H(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		ATCATCAACCGCTTCTGTTAC	0.542																																						ENST00000300177.4																			1	Substitution - Missense(1)	p.R116H(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10						c.(346-348)cGc>cAc		gremlin 1, DAN family BMP antagonist							95	74	81					15																	33023238		2201	4300	6501	SO:0001583	missense	26585				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity	g.chr15:33023238G>A		CCDS10029.1, CCDS53927.1	15q13.3	2014-02-07	2013-02-26	2004-05-07	ENSG00000166923	ENSG00000166923			2001	protein-coding gene	gene with protein product		603054	"cysteine knot superfamily 1, BMP antagonist 1", "gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)", "gremlin 1", "colorectal adenoma and carcinoma 1"	CKTSF1B1, CRAC1		9660951, 10026205, 22561515	Standard	NM_013372		Approved	DRM, gremlin, DAND2, HMPS	uc001zhe.2	O60565	OTTHUMG00000129319	ENST00000300177.4:c.347G>A	15.37:g.33023238G>A	ENSP00000300177:p.Arg116His					GREM1_ENST00000322805.4_Missense_Mutation_p.R75H|GREM1_ENST00000560830.1_Missense_Mutation_p.R75H|GREM1_ENST00000560677.1_3'UTR	p.R116H	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)	2	536	+		all_lung(180;1.49e-09)	116			CTCK.		Q52LV3|Q8N914|Q8N936	Missense_Mutation	SNP	ENST00000300177.4	37	c.347G>A	CCDS10029.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006976	0.93287	.	.	ENSG00000166923	ENST00000300177;ENST00000322805	T;T	0.34072	1.38;1.38	5.57	4.65	0.58169	DAN (1);Cystine knot, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57814	0.2079	M	0.73430	2.235	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.992	D;D;P	0.77557	0.92;0.99;0.893	T	0.55224	-0.8174	10	0.35671	T	0.21	-17.9568	13.8474	0.63477	0.0729:0.0:0.9271:0.0	.	75;116;46	O60565-2;O60565;B3KTR9	.;GREM1_HUMAN;.	H	116;75	ENSP00000300177:R116H;ENSP00000323101:R75H	ENSP00000300177:R116H	R	+	2	0	GREM1	30810530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.022000	0.88759	2.640000	0.89533	0.655000	0.94253	CGC		0.542	GREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251455.2	NM_013372		9	20	0	0	0	1	0	9	20					A	33023238	G	A	33023238	3	1	435	1	0	0	0	0	1	0	0	0	6761	1087	38	1	349	1	GREM1	15	33023238	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1171853	33023238	69508154	6430	27355											
FMN1	342184	broad.mit.edu	37	chr15	33359690	33359690	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgaacacaaatgacatcGtcttttgtccctttcaaagt	12	12	5	12	2	2	1	1	1	1	0	4	2	3	1	2	0	1	0	2	0	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:33359690G>A	ENST00000559047.1	-	3	2043				FMN1_ENST00000334528.9_Silent_p.D132D|FMN1_ENST00000558197.1_Silent_p.D132D|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)		AAATGACATCGTCTTTTGTCC	0.527																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(394-396)gaC>gaT		formin 1							91	93	92					15																	33359690		2010	4165	6175	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33359690G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-2415C>T	15.37:g.33359690G>A						FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Silent_p.D132D|FMN1_ENST00000559047.1_Intron|FMN1_ENST00000559150.1_Intron	p.D132D	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		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)	1	395	-		all_lung(180;1.14e-07)	0			Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37	c.396C>T																																																																																					0.527	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		19	23	0	0	0	1	0	19	23					A	33359690	G	A	33359690	1	1	435	0	1	0	0	0	0	0	0	0	5949	1136	40	1		1	FMN1	15	33359690	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	336452	33359690	69171702	6431	27356											
RYR3	6263	broad.mit.edu	37	chr15	33927871	33927871	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgatttttccgggtagagCgatcttatgcagtgagatct	8	14	11	8	3	2	2	0	1	2	2	4	5	4	2	2	1	2	2	2	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:33927871C>T	ENST00000389232.4	+	26	3302	c.3232C>T	c.(3232-3234)Cga>Tga	p.R1078*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R1078*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1078	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCGGGTAGAGCGATCTTATGC	0.517																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(3232-3234)Cga>Tga		ryanodine receptor 3							71	72	72					15																	33927871		2062	4237	6299	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33927871C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3232C>T	15.37:g.33927871C>T	ENSP00000373884:p.Arg1078*					RYR3_ENST00000415757.3_Nonsense_Mutation_p.R1078*	p.R1078*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	26	3302	+		all_lung(180;7.18e-09)	1078			4 X approximate repeats.|B30.2/SPRY 2.		O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.3232C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	42	9.500005	0.99189	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.32	3.43	0.39272	.	0.318283	0.29987	N	0.010698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	8.0028	0.30308	0.3974:0.531:0.0:0.0716	.	.	.	.	X	1078	.	ENSP00000354735:R1078X	R	+	1	2	RYR3	31715163	0.793000	0.28825	0.997000	0.53966	0.940000	0.58332	0.343000	0.19944	0.798000	0.33994	-0.182000	0.12963	CGA		0.517	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	14	0	0	0	1	0	6	14					T	33927871	C	T	33927871	4	4	435	1	0	0	0	0	0	1	0	0	13770	760	27	1	3334	1	RYR3	15	33927871	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	568181	33927871	68603521	6432	27357											
RYR3	6263	broad.mit.edu	37	chr15	34014941	34014941	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgtggaagaaaacgccagCgttgtggtcaagctgctcat	11	9	13	8	2	2	1	2	0	0	1	2	2	2	2	1	2	4	3	1	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:34014941C>T	ENST00000389232.4	+	44	6715	c.6645C>T	c.(6643-6645)agC>agT	p.S2215S	Y_RNA_ENST00000363138.1_RNA|RYR3_ENST00000415757.3_Silent_p.S2215S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2215	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAAACGCCAGCGTTGTGGTCA	0.557																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(6643-6645)agC>agT		ryanodine receptor 3							96	104	101					15																	34014941		2009	4197	6206	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34014941C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6645C>T	15.37:g.34014941C>T						RYR3_ENST00000415757.3_Silent_p.S2215S	p.S2215S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	44	6715	+		all_lung(180;7.18e-09)	2215			4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.6645C>T	CCDS45210.1																																																																																				0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			36	50	0	0	0	1	0	36	50					T	34014941	C	T	34014941	2	4	435	1	0	0	0	0	0	0	0	1	13770	767	27	1		1	RYR3	15	34014941	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	87070	34014941	68516451	6433	27358											
RYR3	6263	broad.mit.edu	37	chr15	34023829	34023829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagacaatatacaggctatCcaagggacgttccctcacca	13	7	8	13	1	1	1	1	0	0	1	3	2	3	2	3	2	1	3	3	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:34023829C>T	ENST00000389232.4	+	48	7428	c.7358C>T	c.(7357-7359)tCc>tTc	p.S2453F	RYR3_ENST00000415757.3_Missense_Mutation_p.S2453F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2453	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TACAGGCTATCCAAGGGACGT	0.468																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(7357-7359)tCc>tTc		ryanodine receptor 3							90	85	87					15																	34023829		1984	4184	6168	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34023829C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.7358C>T	15.37:g.34023829C>T	ENSP00000373884:p.Ser2453Phe					RYR3_ENST00000415757.3_Missense_Mutation_p.S2453F	p.S2453F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	48	7428	+		all_lung(180;7.18e-09)	2453			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.7358C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094150	0.76870	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;T	0.93247	-3.19;-0.12	5.38	4.47	0.54385	.	0.069408	0.64402	D	0.000012	D	0.94335	0.8179	M	0.81802	2.56	0.58432	D	0.999996	P;P	0.48998	0.85;0.918	B;P	0.47827	0.325;0.558	D	0.94738	0.7916	10	0.87932	D	0	.	13.8693	0.63608	0.0:0.9278:0.0:0.0722	.	2453;2453	Q15413-2;Q15413	.;RYR3_HUMAN	F	2453	ENSP00000373884:S2453F;ENSP00000399610:S2453F	ENSP00000354735:S2453F	S	+	2	0	RYR3	31811121	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.837000	0.55820	1.502000	0.48669	0.655000	0.94253	TCC		0.468	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			3	23	0	0	0	1	0	3	23					T	34023829	C	T	34023829	3	4	435	1	0	0	0	0	1	0	0	0	13770	855	30	3	7548	3	RYR3	15	34023829	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8888	34023829	68507563	6434	27359											
RYR3	6263	broad.mit.edu	37	chr15	34064260	34064260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgaacgcagattaaaggcGtttctcagaatattaactac	14	10	7	10	3	1	2	1	0	1	2	2	3	1	2	1	1	3	2	1	1	7	5	rs189282419	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:34064260G>A	ENST00000389232.4	+	63	9026	c.8956G>A	c.(8956-8958)Gtt>Att	p.V2986I	RYR3_ENST00000415757.3_Missense_Mutation_p.V2986I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2986					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATTAAAGGCGTTTCTCAGAA	0.448													G|||	14	0.00279553	0.0098	0.0014	5008	,	,		19567	0		0	False		,,,				2504	0					ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(8956-8958)Gtt>Att		ryanodine receptor 3		G	ILE/VAL	11,3819		0,11,1904	99	92	94		8956	5.7	1	15		94	0,8262		0,0,4131	yes	missense	RYR3	NM_001036.3	29	0,11,6035	AA,AG,GG		0.0,0.2872,0.091	possibly-damaging	2986/4871	34064260	11,12081	1915	4131	6046	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34064260G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8956G>A	15.37:g.34064260G>A	ENSP00000373884:p.Val2986Ile					RYR3_ENST00000415757.3_Missense_Mutation_p.V2986I	p.V2986I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	63	9026	+		all_lung(180;7.18e-09)	2986					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8956G>A	CCDS45210.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	19.44	3.827565	0.71143	0.002872	0.0	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96774	-4.12;-4.12	5.65	5.65	0.86999	.	0.152498	0.43579	D	0.000550	D	0.96259	0.8780	L	0.59436	1.845	0.58432	D	0.999996	D;D	0.69078	0.996;0.997	P;P	0.59761	0.856;0.863	D	0.95062	0.8196	10	0.54805	T	0.06	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	2986;2986	Q15413-2;Q15413	.;RYR3_HUMAN	I	2986	ENSP00000373884:V2986I;ENSP00000399610:V2986I	ENSP00000354735:V2986I	V	+	1	0	RYR3	31851552	1.000000	0.71417	0.983000	0.44433	0.789000	0.44602	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	GTT		0.448	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			11	10	0	0	0	1	0	11	10					A	34064260	G	A	34064260	3	1	435	1	0	0	0	0	1	0	0	0	13770	1145	40	1	9206	1	RYR3	15	34064260	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	40431	34064260	68467132	6435	27360											
RYR3	6263	broad.mit.edu	37	chr15	34072456	34072456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctggcctcgctggcagctgCcataccagtggcattcctgg	5	10	12	14	1	1	0	0	0	1	0	3	0	2	0	4	4	3	4	4	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:34072456C>T	ENST00000389232.4	+	65	9252	c.9182C>T	c.(9181-9183)gCc>gTc	p.A3061V	RYR3_ENST00000415757.3_Missense_Mutation_p.A3061V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3061					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGGCAGCTGCCATACCAGTG	0.567																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9181-9183)gCc>gTc		ryanodine receptor 3							52	55	54					15																	34072456		1946	4155	6101	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34072456C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9182C>T	15.37:g.34072456C>T	ENSP00000373884:p.Ala3061Val					RYR3_ENST00000415757.3_Missense_Mutation_p.A3061V	p.A3061V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	65	9252	+		all_lung(180;7.18e-09)	3061					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.9182C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	35	5.522190	0.96416	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.62788	-0.0;-0.0	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	M	0.84433	2.695	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.66084	0.941;0.913	D	0.83775	0.0222	10	0.72032	D	0.01	.	19.1786	0.93614	0.0:1.0:0.0:0.0	.	3061;3061	Q15413-2;Q15413	.;RYR3_HUMAN	V	3061	ENSP00000373884:A3061V;ENSP00000399610:A3061V	ENSP00000354735:A3061V	A	+	2	0	RYR3	31859748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.492000	0.81482	2.768000	0.95171	0.650000	0.86243	GCC		0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	19	0	0	0	1	0	9	19					T	34072456	C	T	34072456	3	4	435	1	0	0	0	0	1	0	0	0	13770	739	26	3	9440	3	RYR3	15	34072456	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8196	34072456	68458936	6436	27361											
RYR3	6263	broad.mit.edu	37	chr15	34078152	34078152	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcaacaacaacctgggcatCgatgaggcctcctggatgaa	13	7	10	11	1	1	2	1	2	0	0	3	4	2	3	3	3	3	1	3	3	4	0	rs556697081		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:34078152C>T	ENST00000389232.4	+	66	9628	c.9558C>T	c.(9556-9558)atC>atT	p.I3186I	RYR3_ENST00000415757.3_Silent_p.I3186I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3186					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCTGGGCATCGATGAGGCCT	0.542																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9556-9558)atC>atT		ryanodine receptor 3							135	146	143					15																	34078152		2137	4256	6393	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34078152C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9558C>T	15.37:g.34078152C>T						RYR3_ENST00000415757.3_Silent_p.I3186I	p.I3186I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	66	9628	+		all_lung(180;7.18e-09)	3186					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.9558C>T	CCDS45210.1																																																																																				0.542	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			45	57	0	0	0	1	0	45	57					T	34078152	C	T	34078152	2	4	435	1	0	0	0	0	0	0	0	1	13770	874	31	2		2	RYR3	15	34078152	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5696	34078152	68453240	6437	27362											
RYR3	6263	broad.mit.edu	37	chr15	34130097	34130097	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagctgatgagaatgaCatgtttaattacgttgattt	13	14	10	4	1	0	5	0	4	0	2	0	6	0	5	0	0	2	4	0	0	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:34130097C>T	ENST00000389232.4	+	89	11986	c.11916C>T	c.(11914-11916)gaC>gaT	p.D3972D	RYR3_ENST00000415757.3_Silent_p.D3967D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3972					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATGAGAATGACATGTTTAATT	0.428																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(11914-11916)gaC>gaT		ryanodine receptor 3							139	138	139					15																	34130097		1963	4146	6109	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130097C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11916C>T	15.37:g.34130097C>T						RYR3_ENST00000415757.3_Silent_p.D3967D	p.D3972D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	11986	+		all_lung(180;7.18e-09)	3972					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.11916C>T	CCDS45210.1																																																																																				0.428	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			37	53	0	0	0	1	0	37	53					T	34130097	C	T	34130097	2	4	435	1	0	0	0	0	0	0	0	1	13770	477	17	3		3	RYR3	15	34130097	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	51945	34130097	68401295	6438	27363											
RYR3	6263	broad.mit.edu	37	chr15	34130191	34130191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattgacaaatctttctgaaCacatgccaaacgattcccgc	13	11	5	12	2	2	2	0	2	2	0	3	3	3	2	2	0	3	0	2	0	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:34130191C>T	ENST00000389232.4	+	89	12080	c.12010C>T	c.(12010-12012)Cac>Tac	p.H4004Y	RYR3_ENST00000415757.3_Missense_Mutation_p.H3999Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4004					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTTTCTGAACACATGCCAAA	0.453																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(12010-12012)Cac>Tac		ryanodine receptor 3							122	122	122					15																	34130191		1962	4149	6111	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130191C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12010C>T	15.37:g.34130191C>T	ENSP00000373884:p.His4004Tyr					RYR3_ENST00000415757.3_Missense_Mutation_p.H3999Y	p.H4004Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	12080	+		all_lung(180;7.18e-09)	4004					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.12010C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837333	0.71373	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.99277	-5.67	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.99348	0.9771	M	0.75615	2.305	0.80722	D	1	D;D	0.76494	0.988;0.999	D;D	0.72625	0.971;0.978	D	0.99421	1.0933	10	0.87932	D	0	.	19.0504	0.93041	0.0:1.0:0.0:0.0	.	3999;4004	Q15413-2;Q15413	.;RYR3_HUMAN	Y	4004;4000	ENSP00000373884:H4004Y	ENSP00000354735:H4000Y	H	+	1	0	RYR3	31917483	1.000000	0.71417	0.984000	0.44739	0.971000	0.66376	7.554000	0.82212	2.737000	0.93849	0.551000	0.68910	CAC		0.453	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			41	78	0	0	0	1	0	41	78					T	34130191	C	T	34130191	3	4	435	1	0	0	0	0	1	0	0	0	13770	478	17	3	12364	3	RYR3	15	34130191	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	94	34130191	68401201	6439	27364											
RYR3	6263	broad.mit.edu	37	chr15	34147037	34147037	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caataacttcttctttgctgCtcacctattggacatcgcaa	10	14	5	12	1	3	0	1	0	2	0	4	1	3	1	1	1	3	3	1	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:34147037C>A	ENST00000389232.4	+	98	14001	c.13931C>A	c.(13930-13932)gCt>gAt	p.A4644D	RP11-3D4.3_ENST00000560404.1_RNA|RYR3_ENST00000415757.3_Missense_Mutation_p.A4639D|RYR3_ENST00000559917.1_3'UTR	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4644					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTCTTTGCTGCTCACCTATTG	0.453																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(13930-13932)gCt>gAt		ryanodine receptor 3							222	208	213					15																	34147037		2007	4194	6201	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34147037C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13931C>A	15.37:g.34147037C>A	ENSP00000373884:p.Ala4644Asp					RYR3_ENST00000415757.3_Missense_Mutation_p.A4639D|RYR3_ENST00000559917.1_3'UTR	p.A4644D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	98	14001	+		all_lung(180;7.18e-09)	4644					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.13931C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005210	0.93287	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.98550	-4.99	4.72	4.72	0.59763	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99042	0.9672	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.97110	0.984;1.0	D	0.99537	1.0962	10	0.72032	D	0.01	.	18.2253	0.89915	0.0:1.0:0.0:0.0	.	4639;4644	Q15413-2;Q15413	.;RYR3_HUMAN	D	4644;4640	ENSP00000373884:A4644D	ENSP00000354735:A4640D	A	+	2	0	RYR3	31934329	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.690000	0.68241	2.601000	0.87937	0.585000	0.79938	GCT		0.453	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			36	64	1	0	6.29468e-14	1	6.85409e-14	36	64					A	34147037	C	A	34147037	3	1	435	1	0	0	0	0	1	0	0	0	13770	797	28	5	14321	5	RYR3	15	34147037	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16846	34147037	68384355	6440	27365											
C15orf55	256646	broad.mit.edu	37	chr15	34646000	34646000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgatgaatgggtctcaGggcctgtctcctgcaacccc	7	9	11	14	0	2	2	1	2	2	0	4	2	2	2	4	2	3	2	4	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:34646000G>T	ENST00000333756.4	+	4	1073	c.918G>T	c.(916-918)caG>caT	p.Q306H	NUTM1_ENST00000537011.1_Missense_Mutation_p.Q334H|NUTM1_ENST00000438749.3_Missense_Mutation_p.Q324H	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	306						cytoplasm (GO:0005737)|nucleus (GO:0005634)											ATGGGTCTCAGGGCCTGTCTC	0.537																																						ENST00000537011.1																			0											c.(1000-1002)caG>caT		NUT midline carcinoma, family member 1							142	128	133					15																	34646000		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34646000G>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.918G>T	15.37:g.34646000G>T	ENSP00000329448:p.Gln306His					NUTM1_ENST00000333756.4_Missense_Mutation_p.Q306H|NUTM1_ENST00000438749.3_Missense_Mutation_p.Q324H	p.Q334H							5	1384	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.1002G>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872995	0.33069	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.27104	1.69;1.69;1.69	5.49	3.62	0.41486	Nuclear Testis  protein, N-terminal (1);	0.721992	0.12605	N	0.454367	T	0.46908	0.1417	M	0.78637	2.42	0.18873	N	0.999983	D;D;D	0.60575	0.988;0.985;0.983	P;P;P	0.60886	0.853;0.77;0.88	T	0.29150	-1.0021	10	0.66056	D	0.02	.	9.6043	0.39624	0.1295:0.0:0.8705:0.0	.	324;334;306	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	H	334;324;306	ENSP00000444896:Q334H;ENSP00000407031:Q324H;ENSP00000329448:Q306H	ENSP00000329448:Q306H	Q	+	3	2	C15orf55	32433292	0.969000	0.33509	0.264000	0.24511	0.155000	0.21991	0.447000	0.21710	0.682000	0.31407	0.557000	0.71058	CAG		0.537	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		35	46	1	0	1.36161e-19	1	1.50697e-19	35	46					T	34646000	G	T	34646000	3	4	435	1	0	0	0	0	1	0	0	0	1803	991	35	5	932	5	C15orf55	15	34646000	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	498963	34646000	67885392	6441	27366											
MEIS2	4212	broad.mit.edu	37	chr15	37184601	37184601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggagtgtaacttggctgtgCcatactcattcccataggac	10	11	10	10	0	1	0	1	0	0	0	2	2	2	2	2	3	3	2	2	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:37184601C>T	ENST00000561208.1	-	12	1625	c.1207G>A	c.(1207-1209)Gca>Aca	p.A403T	MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.A396T|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000338564.5_Missense_Mutation_p.A396T|MEIS2_ENST00000559408.1_5'Flank|MEIS2_ENST00000424352.2_3'UTR			O14770	MEIS2_HUMAN	Meis homeobox 2	403	Transcriptional activation domain.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			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)		CTTGGCTGTGCCATACTCATT	0.502																																						ENST00000338564.5																			0				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						c.(1186-1188)Gca>Aca		Meis homeobox 2							211	211	211					15																	37184601		2201	4297	6498	SO:0001583	missense	4212				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	g.chr15:37184601C>T	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"Homeoboxes / TALE class"	7001	protein-coding gene	gene with protein product		601740	"Meis (mouse) homolog 2", "Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1207G>A	15.37:g.37184601C>T	ENSP00000453793:p.Ala403Thr					MEIS2_ENST00000382766.2_Missense_Mutation_p.A396T|MEIS2_ENST00000561208.1_Missense_Mutation_p.A403T|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000557796.2_3'UTR	p.A396T	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	13	1632	-		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)	403					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.1186G>A	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465637	0.26335	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766	D;D	0.87103	-2.21;-2.21	5.76	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.77772	0.4180	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.13594	0.001;0.001;0.0;0.008	B;B;B;B	0.13407	0.002;0.001;0.001;0.009	T	0.72953	-0.4135	10	0.44086	T	0.13	-6.4009	11.5168	0.50526	0.0:0.863:0.0:0.137	.	396;403;383;99	O14770-4;O14770;B7Z6F6;Q6V703	.;MEIS2_HUMAN;.;.	T	403;396;396	ENSP00000341400:A396T;ENSP00000372216:A396T	ENSP00000326296:A403T	A	-	1	0	MEIS2	34971893	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.194000	0.51005	2.705000	0.92388	0.655000	0.94253	GCA		0.502	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		8	155	0	0	0	1	0	8	155					T	37184601	C	T	37184601	3	4	435	1	0	0	0	0	1	0	0	0	9468	739	26	3	230	3	MEIS2	15	37184601	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2538601	37184601	65346791	6442	27367											
MEIS2	4212	broad.mit.edu	37	chr15	37188835	37188835	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacttggaacttgcctgctcGatttgactggtcaatcatgg	8	14	10	9	1	2	1	2	1	0	0	3	3	2	2	1	3	4	1	1	3	3	4	rs367563077		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:37188835G>A	ENST00000561208.1	-	10	1448	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	MEIS2_ENST00000559085.1_Nonsense_Mutation_p.R331*|MEIS2_ENST00000444725.1_Nonsense_Mutation_p.R344*|MEIS2_ENST00000397620.2_Nonsense_Mutation_p.R256*|MEIS2_ENST00000219869.9_Nonsense_Mutation_p.R198*|MEIS2_ENST00000557796.2_Nonsense_Mutation_p.R331*|MEIS2_ENST00000382766.2_Nonsense_Mutation_p.R344*|MEIS2_ENST00000340545.5_Nonsense_Mutation_p.R331*|MEIS2_ENST00000397624.3_Nonsense_Mutation_p.R256*|MEIS2_ENST00000338564.5_Nonsense_Mutation_p.R344*|MEIS2_ENST00000559561.1_Nonsense_Mutation_p.R344*|MEIS2_ENST00000559408.1_5'UTR|MEIS2_ENST00000424352.2_Nonsense_Mutation_p.R344*			O14770	MEIS2_HUMAN	Meis homeobox 2	344	Transcriptional activation domain.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.R344*(2)		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)		TTGCCTGCTCGATTTGACTGG	0.398																																						ENST00000338564.5																			2	Substitution - Nonsense(2)	p.R344*(2)	large_intestine(2)	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						c.(1030-1032)Cga>Tga		Meis homeobox 2							179	154	163					15																	37188835		2201	4297	6498	SO:0001587	stop_gained	4212				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	g.chr15:37188835G>A	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"Homeoboxes / TALE class"	7001	protein-coding gene	gene with protein product		601740	"Meis (mouse) homolog 2", "Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1030C>T	15.37:g.37188835G>A	ENSP00000453793:p.Arg344*					MEIS2_ENST00000559408.1_5'UTR|MEIS2_ENST00000382766.2_Nonsense_Mutation_p.R344*|MEIS2_ENST00000561208.1_Nonsense_Mutation_p.R344*|MEIS2_ENST00000397624.3_Nonsense_Mutation_p.R256*|MEIS2_ENST00000340545.5_Nonsense_Mutation_p.R331*|MEIS2_ENST00000397620.2_Nonsense_Mutation_p.R256*|MEIS2_ENST00000219869.9_Nonsense_Mutation_p.R198*|MEIS2_ENST00000424352.2_Nonsense_Mutation_p.R344*|MEIS2_ENST00000444725.1_Nonsense_Mutation_p.R344*|MEIS2_ENST00000559561.1_Nonsense_Mutation_p.R344*|MEIS2_ENST00000559085.1_Nonsense_Mutation_p.R331*|MEIS2_ENST00000557796.2_Nonsense_Mutation_p.R331*	p.R344*	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	11	1476	-		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)	344					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Nonsense_Mutation	SNP	ENST00000561208.1	37	c.1030C>T	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	G	40	8.199426	0.98701	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3478	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	344;344;344;344;344;331;331;256;198	.	ENSP00000219869:R198X	R	-	1	2	MEIS2	34976127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.937000	0.99478	0.650000	0.86243	CGA		0.398	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		41	45	0	0	0	1	0	41	45					A	37188835	G	A	37188835	4	1	435	1	0	0	0	0	0	1	0	0	9468	1066	37	2	478	2	MEIS2	15	37188835	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4234	37188835	65342557	6443	27368											
MEIS2	4212	broad.mit.edu	37	chr15	37388508	37388508	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgcttggcgaagaccgcGatgtcctcgttgaaggagtc	8	9	13	11	4	0	2	0	1	0	1	3	5	1	3	3	2	1	2	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:37388508G>A	ENST00000561208.1	-	3	787	c.369C>T	c.(367-369)atC>atT	p.I123I	MEIS2_ENST00000444725.1_Silent_p.I123I|MEIS2_ENST00000397620.2_Silent_p.I35I|MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000557796.2_Silent_p.I110I|MEIS2_ENST00000382766.2_Silent_p.I123I|MEIS2_ENST00000340545.5_Silent_p.I110I|MEIS2_ENST00000397624.3_Silent_p.I35I|MEIS2_ENST00000338564.5_Silent_p.I123I|MEIS2_ENST00000559561.1_Silent_p.I123I|MEIS2_ENST00000424352.2_Silent_p.I123I|MEIS2_ENST00000559085.1_Silent_p.I110I			O14770	MEIS2_HUMAN	Meis homeobox 2	123	Required for interaction with PBX1. {ECO:0000250}.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			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)		CGAAGACCGCGATGTCCTCGT	0.597																																						ENST00000338564.5																			0				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						c.(367-369)atC>atT		Meis homeobox 2							43	38	40					15																	37388508		2201	4297	6498	SO:0001819	synonymous_variant	4212				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	g.chr15:37388508G>A	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"Homeoboxes / TALE class"	7001	protein-coding gene	gene with protein product		601740	"Meis (mouse) homolog 2", "Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.369C>T	15.37:g.37388508G>A						MEIS2_ENST00000382766.2_Silent_p.I123I|MEIS2_ENST00000561208.1_Silent_p.I123I|MEIS2_ENST00000397624.3_Silent_p.I35I|MEIS2_ENST00000340545.5_Silent_p.I110I|MEIS2_ENST00000397620.2_Silent_p.I35I|MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000444725.1_Silent_p.I123I|MEIS2_ENST00000424352.2_Silent_p.I123I|MEIS2_ENST00000559561.1_Silent_p.I123I|MEIS2_ENST00000559085.1_Silent_p.I110I|MEIS2_ENST00000557796.2_Silent_p.I110I	p.I123I	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	4	815	-		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)	123					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Silent	SNP	ENST00000561208.1	37	c.369C>T	CCDS10044.1																																																																																				0.597	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		3	6	0	0	0	1	0	3	6					A	37388508	G	A	37388508	2	1	435	1	0	0	0	0	0	0	0	1	9468	1048	37	2		2	MEIS2	15	37388508	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	199673	37388508	65142884	6444	27369											
MEIS2	4212	broad.mit.edu	37	chr15	37391664	37391664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttaaacctaccctttgcgCcatcagtctgcgctccaata	10	12	5	14	2	2	0	1	0	1	0	3	0	3	0	4	0	4	1	4	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:37391664C>T	ENST00000561208.1	-	1	422	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	MEIS2_ENST00000444725.1_Missense_Mutation_p.A2T|MEIS2_ENST00000397620.2_5'Flank|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000557796.2_5'Flank|MEIS2_ENST00000382766.2_Missense_Mutation_p.A2T|MEIS2_ENST00000340545.5_Intron|MEIS2_ENST00000397624.3_5'Flank|MEIS2_ENST00000338564.5_Missense_Mutation_p.A2T|MEIS2_ENST00000559561.1_Missense_Mutation_p.A2T|MEIS2_ENST00000424352.2_Missense_Mutation_p.A2T|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000559085.1_5'Flank			O14770	MEIS2_HUMAN	Meis homeobox 2	2					eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			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)		ACCCTTTGCGCCATCAGTCTG	0.443																																						ENST00000338564.5																			0				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						c.(4-6)Gcg>Acg		Meis homeobox 2							122	130	128					15																	37391664		2200	4297	6497	SO:0001583	missense	4212				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	g.chr15:37391664C>T	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"Homeoboxes / TALE class"	7001	protein-coding gene	gene with protein product		601740	"Meis (mouse) homolog 2", "Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.4G>A	15.37:g.37391664C>T	ENSP00000453793:p.Ala2Thr					MEIS2_ENST00000382766.2_Missense_Mutation_p.A2T|MEIS2_ENST00000561208.1_Missense_Mutation_p.A2T|MEIS2_ENST00000340545.5_Intron|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000444725.1_Missense_Mutation_p.A2T|MEIS2_ENST00000424352.2_Missense_Mutation_p.A2T|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000559561.1_Missense_Mutation_p.A2T	p.A2T	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	2	450	-		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)	2					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.4G>A	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147590	0.77888	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	4.49	4.49	0.54785	.	0.234402	0.42172	D	0.000748	T	0.37461	0.1004	M	0.61703	1.905	0.80722	D	1	B;P;B;P	0.46512	0.097;0.766;0.057;0.879	B;B;B;B	0.43155	0.142;0.41;0.098;0.24	T	0.45071	-0.9286	10	0.72032	D	0.01	.	17.3561	0.87336	0.0:1.0:0.0:0.0	.	2;2;2;2	O14770-4;O14770;O14770-3;O14770-2	.;MEIS2_HUMAN;.;.	T	2	ENSP00000326296:A2T;ENSP00000341400:A2T;ENSP00000372216:A2T;ENSP00000404185:A2T;ENSP00000391887:A2T	ENSP00000326296:A2T	A	-	1	0	MEIS2	35178956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.036000	0.76524	2.310000	0.77875	0.462000	0.41574	GCG		0.443	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		36	56	0	0	0	1	0	36	56					T	37391664	C	T	37391664	3	4	435	1	0	0	0	0	1	0	0	0	9468	739	26	3	1540	3	MEIS2	15	37391664	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3156	37391664	65139728	6445	27370											
C15orf54	400360	broad.mit.edu	37	chr15	39544513	39544513	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagccactcatcacatgacGgagctccctctcaggttcct	9	9	8	15	1	3	2	3	1	1	1	6	3	5	3	3	2	2	2	3	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:39544513G>A	ENST00000318578.3	+	2	545	c.177G>A	c.(175-177)acG>acA	p.T59T	RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Silent_p.T59T|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	59			T -> M (in dbSNP:rs11853050). {ECO:0000269|PubMed:15489334}.							NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		ATCACATGACGGAGCTCCCTC	0.438																																						ENST00000318578.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5						c.(175-177)acG>acA		chromosome 15 open reading frame 54							249	250	249					15																	39544513		2200	4297	6497	SO:0001819	synonymous_variant	400360							g.chr15:39544513G>A		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.177G>A	15.37:g.39544513G>A						RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Silent_p.T59T|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA	p.T59T	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	545	+		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)	59		T -> M (in dbSNP:rs11853050).			B7ZVZ9	Silent	SNP	ENST00000318578.3	37	c.177G>A	CCDS10049.1																																																																																				0.438	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	NM_207445		5	199	0	0	0	1	0	5	199					A	39544513	G	A	39544513	2	1	435	1	0	0	0	0	0	0	0	1	1802	1103	39	2		2	C15orf54	15	39544513	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2152849	39544513	62986879	6446	27371											
THBS1	7057	broad.mit.edu	37	chr15	39882195	39882195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgagaacctggtgtgcGtggccaatgcgacttaccac	10	8	11	12	2	0	1	0	1	0	1	0	3	0	1	4	2	4	0	4	2	4	1	rs566689933		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:39882195G>A	ENST00000260356.5	+	13	2281	c.2116G>A	c.(2116-2118)Gtg>Atg	p.V706M		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	706					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			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)		CCTGGTGTGCGTGGCCAATGC	0.552													G|||	1	0.000199681	0	0	5008	,	,		18946	0		0.001	False		,,,				2504	0					ENST00000260356.5																			0				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						c.(2116-2118)Gtg>Atg		thrombospondin 1	Becaplermin(DB00102)						85	68	74					15																	39882195		2200	4297	6497	SO:0001583	missense	7057				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	g.chr15:39882195G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2116G>A	15.37:g.39882195G>A	ENSP00000260356:p.Val706Met						p.V706M	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	13	2281	+		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)	706					A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.2116G>A	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391089	0.82902	.	.	ENSG00000137801	ENST00000260356	T	0.77620	-1.11	5.79	5.79	0.91817	.	0.000000	0.32802	N	0.005638	D	0.85784	0.5777	L	0.49126	1.545	0.51482	D	0.999929	D;D	0.89917	0.998;1.0	P;D	0.80764	0.869;0.994	D	0.83803	0.0237	10	0.40728	T	0.16	-14.6518	20.0081	0.97439	0.0:0.0:1.0:0.0	.	621;706	B4E3J7;P07996	.;TSP1_HUMAN	M	706	ENSP00000260356:V706M	ENSP00000260356:V706M	V	+	1	0	THBS1	37669487	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.634000	0.74290	2.738000	0.93877	0.655000	0.94253	GTG		0.552	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		6	2	0	0	0	1	0	6	2					A	39882195	G	A	39882195	3	1	435	1	0	0	0	0	1	0	0	0	15850	1145	40	1	2162	1	THBS1	15	39882195	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	337682	39882195	62649197	6447	27372											
THBS1	7057	broad.mit.edu	37	chr15	39883713	39883713	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttctcttcaggtatcctCaatgaacgggacaactgcca	10	12	8	11	1	3	1	2	1	1	0	5	2	4	2	2	2	3	2	2	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:39883713C>T	ENST00000260356.5	+	16	2586	c.2421C>T	c.(2419-2421)ctC>ctT	p.L807L	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	807					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			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)		CAGGTATCCTCAATGAACGGG	0.478																																						ENST00000260356.5																			0				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						c.(2419-2421)ctC>ctT		thrombospondin 1	Becaplermin(DB00102)						149	130	137					15																	39883713		2200	4297	6497	SO:0001819	synonymous_variant	7057				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	g.chr15:39883713C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2421C>T	15.37:g.39883713C>T							p.L807L	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	16	2586	+		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)	807					A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	c.2421C>T	CCDS32194.1																																																																																				0.478	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		11	16	0	0	0	1	0	11	16					T	39883713	C	T	39883713	2	4	435	1	0	0	0	0	0	0	0	1	15850	813	29	3		3	THBS1	15	39883713	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1518	39883713	62647679	6448	27373											
EIF2AK4	440275	broad.mit.edu	37	chr15	40290965	40290965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtttccagaagactttgacGatggagagcatgcaaagcag	14	8	12	7	1	0	4	0	1	0	3	1	6	1	4	1	1	3	4	1	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40290965G>A	ENST00000263791.5	+	20	2945	c.2902G>A	c.(2902-2904)Gat>Aat	p.D968N	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.D940N	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	968	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			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)		AGACTTTGACGATGGAGAGCA	0.348																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(2902-2904)Gat>Aat		eukaryotic translation initiation factor 2 alpha kinase 4							110	100	103					15																	40290965		1821	4084	5905	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40290965G>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2902G>A	15.37:g.40290965G>A	ENSP00000263791:p.Asp968Asn					EIF2AK4_ENST00000382727.2_Missense_Mutation_p.D940N	p.D968N	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	20	2945	+		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)	968			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.2902G>A	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102223	0.56183	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.25085	1.82;1.82	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.162693	0.56097	D	0.000038	T	0.18173	0.0436	N	0.25957	0.775	0.42919	D	0.994283	B	0.19817	0.039	B	0.14023	0.01	T	0.06679	-1.0813	10	0.22109	T	0.4	-25.9771	12.8356	0.57771	0.074:0.0:0.926:0.0	.	968	Q9P2K8	E2AK4_HUMAN	N	968;940	ENSP00000263791:D968N;ENSP00000372174:D940N	ENSP00000263791:D968N	D	+	1	0	EIF2AK4	38078257	1.000000	0.71417	0.984000	0.44739	0.961000	0.63080	4.089000	0.57685	2.941000	0.99782	0.655000	0.94253	GAT		0.348	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			14	69	0	0	0	1	0	14	69					A	40290965	G	A	40290965	3	1	435	1	0	0	0	0	1	0	0	0	4999	1058	37	2	2980	2	EIF2AK4	15	40290965	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	407252	40290965	62240427	6449	27374											
SRP14	6727	broad.mit.edu	37	chr15	40328545	40328545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatgccctttactgtgctgCtgttgctgctgttgttgctg	2	18	12	9	0	0	0	0	0	0	0	0	0	0	0	1	0	7	9	1	0	2	6	rs551276514	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40328545C>T	ENST00000267884.6	-	5	471	c.400G>A	c.(400-402)Gca>Aca	p.A134T	SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_Missense_Mutation_p.A54T|SRP14_ENST00000558720.1_Missense_Mutation_p.A54T	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	134	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		TACTGtgctgctgttgctgct	0.488													C|||	2	0.000399361	8e-04	0	5008	,	,		20122	0		0	False		,,,				2504	0.001					ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(400-402)Gca>Aca		signal recognition particle 14kDa (homologous Alu RNA binding protein)							90	85	87					15																	40328545		2203	4300	6503	SO:0001583	missense	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328545C>T		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"signal recognition particle 14kD (homologous Alu RNA-binding protein)"			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.400G>A	15.37:g.40328545C>T	ENSP00000267884:p.Ala134Thr					SRP14_ENST00000560773.1_Missense_Mutation_p.A54T|SRP14_ENST00000558720.1_Missense_Mutation_p.A54T|SRP14_ENST00000558527.1_5'UTR	p.A134T	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	471	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	134			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	Missense_Mutation	SNP	ENST00000267884.6	37	c.400G>A	CCDS42017.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396740	0.42512	.	.	ENSG00000140319	ENST00000267884	T	0.13089	2.62	4.6	1.5	0.22942	.	.	.	.	.	T	0.06554	0.0168	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.21724	-1.0237	9	0.87932	D	0	.	6.4389	0.21839	0.0:0.5249:0.3727:0.1023	.	134	P37108	SRP14_HUMAN	T	134	ENSP00000267884:A134T	ENSP00000267884:A134T	A	-	1	0	SRP14	38115837	0.997000	0.39634	0.873000	0.34254	0.446000	0.32137	0.693000	0.25497	0.225000	0.20959	0.313000	0.20887	GCA		0.488	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		25	29	0	0	0	1	0	25	29					T	40328545	C	T	40328545	3	4	435	1	0	0	0	0	1	0	0	0	15152	797	28	3	14	3	SRP14	15	40328545	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	37580	40328545	62202847	6450	27375											
BUB1B	701	broad.mit.edu	37	chr15	40462754	40462754	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggtatatcagctggacaGagcagaactatcctcaaggt	13	10	10	8	0	2	2	2	0	0	2	3	3	3	3	1	3	3	3	1	3	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40462754G>T	ENST00000287598.6	+	4	451	c.256G>T	c.(256-258)Gag>Tag	p.E86*	BUB1B_ENST00000560120.1_3'UTR|BUB1B_ENST00000412359.3_Nonsense_Mutation_p.E100*	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	86	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			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)		CAGCTGGACAGAGCAGAACTA	0.373			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"Mis, N, F, S"	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(256-258)Gag>Tag		BUB1 mitotic checkpoint serine/threonine kinase B							103	97	99					15																	40462754		2203	4300	6503	SO:0001587	stop_gained	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	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	g.chr15:40462754G>T	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.256G>T	15.37:g.40462754G>T	ENSP00000287598:p.Glu86*					BUB1B_ENST00000412359.3_Nonsense_Mutation_p.E100*|BUB1B_ENST00000560120.1_3'UTR	p.E86*	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	4	451	+		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)	86			BUB1 N-terminal.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Nonsense_Mutation	SNP	ENST00000287598.6	37	c.256G>T	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	G	35	5.485808	0.96323	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-16.2346	18.9468	0.92625	0.0:0.0:1.0:0.0	.	.	.	.	X	86;100;86	.	ENSP00000287598:E86X	E	+	1	0	BUB1B	38250046	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.045000	0.71020	2.455000	0.83008	0.655000	0.94253	GAG		0.373	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			24	43	1	0	7.87624e-14	1	8.57347e-14	24	43					T	40462754	G	T	40462754	4	4	435	1	0	0	0	0	0	1	0	0	1571	943	33	5	270	5	BUB1B	15	40462754	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	134209	40462754	62068638	6451	27376											
BUB1B	701	broad.mit.edu	37	chr15	40468811	40468811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactttaggaaagcagatgCgatatttcaggaagggattc	15	10	11	5	1	1	1	1	0	0	1	2	5	1	4	0	3	3	1	0	3	5	5	rs552380700		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40468811C>T	ENST00000287598.6	+	5	713	c.518C>T	c.(517-519)gCg>gTg	p.A173V	BUB1B_ENST00000560120.1_3'UTR|BUB1B_ENST00000412359.3_Missense_Mutation_p.A187V	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	173	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.|Necessary for interaction with CASC5.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			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)		AAAGCAGATGCGATATTTCAG	0.408			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				C|||	1	0.000199681	0	0	5008	,	,		15856	0.001		0	False		,,,				2504	0					ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"Mis, N, F, S"	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(517-519)gCg>gTg		BUB1 mitotic checkpoint serine/threonine kinase B							115	115	115					15																	40468811		2203	4300	6503	SO:0001583	missense	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	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	g.chr15:40468811C>T	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.518C>T	15.37:g.40468811C>T	ENSP00000287598:p.Ala173Val					BUB1B_ENST00000412359.3_Missense_Mutation_p.A187V|BUB1B_ENST00000560120.1_3'UTR	p.A173V	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	5	713	+		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)	173			BUB1 N-terminal.|Necessary for interaction with CASC5.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.518C>T	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.313950	0.23908	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.64803	1.26;-0.12	5.58	-3.77	0.04346	Mad3/BUB1 homology region 1 (3);	1.192050	0.05633	N	0.582022	T	0.51278	0.1665	L	0.59436	1.845	0.09310	N	1	B;B	0.19200	0.028;0.034	B;B	0.12156	0.004;0.007	T	0.32268	-0.9913	10	0.30854	T	0.27	3.1881	4.1672	0.10312	0.3773:0.31:0.0:0.3127	.	187;173	O60566-3;O60566	.;BUB1B_HUMAN	V	173;187;119	ENSP00000287598:A173V;ENSP00000398470:A187V	ENSP00000287598:A173V	A	+	2	0	BUB1B	38256103	0.000000	0.05858	0.008000	0.14137	0.508000	0.34012	-0.649000	0.05384	-0.575000	0.05982	-0.345000	0.07892	GCG		0.408	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			23	40	0	0	0	1	0	23	40					T	40468811	C	T	40468811	3	4	435	1	0	0	0	0	1	0	0	0	1571	768	27	1	536	1	BUB1B	15	40468811	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6057	40468811	62062581	6452	27377											
BUB1B	701	broad.mit.edu	37	chr15	40512938	40512938	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagggaagttaactagtcCtggggctttgctctttcagt	7	14	13	7	0	2	0	1	0	1	0	3	1	3	1	1	4	2	4	1	4	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40512938C>A	ENST00000287598.6	+	23	3326	c.3131C>A	c.(3130-3132)cCt>cAt	p.P1044H	RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000453867.1_Intron|BUB1B_ENST00000412359.3_Missense_Mutation_p.P1058H	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	1044	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			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)		TTAACTAGTCCTGGGGCTTTG	0.453			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"Mis, N, F, S"	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(3130-3132)cCt>cAt		BUB1 mitotic checkpoint serine/threonine kinase B							96	92	94					15																	40512938		2203	4300	6503	SO:0001583	missense	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	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	g.chr15:40512938C>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.3131C>A	15.37:g.40512938C>A	ENSP00000287598:p.Pro1044His					BUB1B_ENST00000412359.3_Missense_Mutation_p.P1058H|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000453867.1_Intron	p.P1044H	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	23	3326	+		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)	1044			Protein kinase.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.3131C>A	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250815	0.59212	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.14893	2.47;2.47	5.12	4.18	0.49190	.	0.338236	0.27554	N	0.018856	T	0.15219	0.0367	N	0.22421	0.69	0.20563	N	0.999885	D	0.58620	0.983	P	0.49708	0.62	T	0.06215	-1.0839	10	0.87932	D	0	-7.4085	6.8998	0.24277	0.0:0.7299:0.1785:0.0916	.	1044	O60566	BUB1B_HUMAN	H	1044;1058;927	ENSP00000287598:P1044H;ENSP00000398470:P1058H	ENSP00000287598:P1044H	P	+	2	0	BUB1B	38300230	0.739000	0.28196	0.789000	0.31954	0.960000	0.62799	0.632000	0.24583	1.344000	0.45657	0.655000	0.94253	CCT		0.453	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			19	72	1	0	5.35267e-07	1	5.59292e-07	19	72					A	40512938	C	A	40512938	3	1	435	1	0	0	0	0	1	0	0	0	1571	681	24	5	3221	5	BUB1B	15	40512938	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44127	40512938	62018454	6453	27378											
PAK6	56924	broad.mit.edu	37	chr15	40558599	40558599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagccctaagacccgggagaGcagcctgaagcgcaggctat	11	5	13	12	2	0	3	0	1	0	2	0	4	0	3	3	2	4	3	3	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40558599G>T	ENST00000542403.2	+	3	872	c.761G>T	c.(760-762)aGc>aTc	p.S254I	RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.S254I|PAK6_ENST00000453867.1_Missense_Mutation_p.S254I|PAK6_ENST00000560346.1_Missense_Mutation_p.S254I|PAK6_ENST00000455577.2_Missense_Mutation_p.S254I|PAK6_ENST00000260404.4_Missense_Mutation_p.S254I|PAK6_ENST00000559901.1_3'UTR	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	254	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		ACCCGGGAGAGCAGCCTGAAG	0.647																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(760-762)aGc>aTc		p21 protein (Cdc42/Rac)-activated kinase 6							36	38	37					15																	40558599		2199	4296	6495	SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40558599G>T	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.761G>T	15.37:g.40558599G>T	ENSP00000439597:p.Ser254Ile					PAK6_ENST00000542403.2_Missense_Mutation_p.S254I|PAK6_ENST00000560346.1_Missense_Mutation_p.S254I|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.S254I|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.S254I|PAK6_ENST00000453867.1_Missense_Mutation_p.S254I	p.S254I	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	5	1673	+		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)	254			Linker.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.761G>T	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073956	0.36566	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.74842	-0.84;-0.84;-0.88;-0.84;-0.84	5.35	0.0289	0.14160	.	0.869065	0.10345	N	0.685876	T	0.56848	0.2013	N	0.19112	0.55	0.36696	D	0.879835	B;B	0.21753	0.036;0.06	B;B	0.31686	0.063;0.134	T	0.46386	-0.9195	10	0.18710	T	0.47	.	5.9268	0.19116	0.4999:0.1358:0.3643:0.0	.	254;254	Q9NQU5;G5E9R2	PAK6_HUMAN;.	I	254	ENSP00000406873:S254I;ENSP00000401153:S254I;ENSP00000409465:S254I;ENSP00000260404:S254I;ENSP00000439597:S254I	ENSP00000260404:S254I	S	+	2	0	PAK6	38345891	0.927000	0.31430	0.977000	0.42913	0.949000	0.60115	0.315000	0.19451	0.019000	0.15079	0.462000	0.41574	AGC		0.647	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			6	14	1	0	3.59834e-05	1	3.7043e-05	6	14					T	40558599	G	T	40558599	3	4	435	1	0	0	0	0	1	0	0	0	11404	971	34	5	767	5	PAK6	15	40558599	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	45661	40558599	61972793	6454	27379											
PAK6	56924	broad.mit.edu	37	chr15	40558610	40558610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgggagagcagcctgaagCgcaggctattccgaagcatg	10	5	14	12	3	0	2	0	1	0	1	1	4	1	2	3	2	4	4	3	2	3	2	rs143324236		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40558610C>T	ENST00000542403.2	+	3	883	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.R258C|PAK6_ENST00000453867.1_Missense_Mutation_p.R258C|PAK6_ENST00000560346.1_Missense_Mutation_p.R258C|PAK6_ENST00000455577.2_Missense_Mutation_p.R258C|PAK6_ENST00000260404.4_Missense_Mutation_p.R258C|PAK6_ENST00000559901.1_3'UTR	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	258	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CAGCCTGAAGCGCAGGCTATT	0.652													C|||	1	0.000199681	8e-04	0	5008	,	,		18520	0		0	False		,,,				2504	0					ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(772-774)Cgc>Tgc		p21 protein (Cdc42/Rac)-activated kinase 6							40	40	40					15																	40558610		2201	4298	6499	SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40558610C>T	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.772C>T	15.37:g.40558610C>T	ENSP00000439597:p.Arg258Cys					PAK6_ENST00000542403.2_Missense_Mutation_p.R258C|PAK6_ENST00000560346.1_Missense_Mutation_p.R258C|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.R258C|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.R258C|PAK6_ENST00000453867.1_Missense_Mutation_p.R258C	p.R258C	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	5	1684	+		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)	258			Linker.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.772C>T	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258111	0.39896	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.74421	-0.8;-0.8;-0.84;-0.8;-0.8	5.48	4.48	0.54585	.	1.262190	0.05126	N	0.491584	T	0.67795	0.2931	N	0.19112	0.55	0.47094	D	0.999318	P;D	0.59767	0.916;0.986	B;B	0.43052	0.23;0.406	T	0.64909	-0.6296	10	0.56958	D	0.05	.	15.3823	0.74669	0.1875:0.8125:0.0:0.0	.	258;258	Q9NQU5;G5E9R2	PAK6_HUMAN;.	C	258	ENSP00000406873:R258C;ENSP00000401153:R258C;ENSP00000409465:R258C;ENSP00000260404:R258C;ENSP00000439597:R258C	ENSP00000260404:R258C	R	+	1	0	PAK6	38345902	0.923000	0.31300	1.000000	0.80357	0.830000	0.47004	1.053000	0.30442	2.590000	0.87494	0.561000	0.74099	CGC		0.652	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			7	13	0	0	0	1	0	7	13					T	40558610	C	T	40558610	3	4	435	1	0	0	0	0	1	0	0	0	11404	768	27	1	778	1	PAK6	15	40558610	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11	40558610	61972782	6455	27380											
PLCB2	5330	broad.mit.edu	37	chr15	40590845	40590845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggagcagcagcttgtcCtgggccagcacgctgttctc	5	10	14	12	1	1	0	0	0	1	0	3	1	2	1	2	3	4	6	2	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40590845C>A	ENST00000260402.3	-	10	1164	c.915G>T	c.(913-915)caG>caT	p.Q305H	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.Q305H|PLCB2_ENST00000456256.2_Missense_Mutation_p.Q305H	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	305					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			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)		GCAGCTTGTCCTGGGCCAGCA	0.567																																						ENST00000260402.3																			0				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						c.(913-915)caG>caT		phospholipase C, beta 2							98	102	101					15																	40590845		2152	4246	6398	SO:0001583	missense	5330				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	g.chr15:40590845C>A		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.915G>T	15.37:g.40590845C>A	ENSP00000260402:p.Gln305His					PLCB2_ENST00000557821.1_Missense_Mutation_p.Q305H|PLCB2_ENST00000456256.2_Missense_Mutation_p.Q305H	p.Q305H	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	10	1164	-		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)	305					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.915G>T	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	9.287	1.049659	0.19827	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.17528	2.27;2.27	4.67	-2.52	0.06346	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.226535	0.37906	N	0.001899	T	0.08044	0.0201	N	0.22421	0.69	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.14578	0.011;0.001;0.003	T	0.14587	-1.0467	10	0.56958	D	0.05	.	2.7199	0.05198	0.2072:0.3561:0.3008:0.1359	.	305;305;305	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	H	305	ENSP00000260402:Q305H;ENSP00000411991:Q305H	ENSP00000260402:Q305H	Q	-	3	2	PLCB2	38378137	0.341000	0.24801	0.991000	0.47740	0.968000	0.65278	-0.315000	0.08081	-0.301000	0.08882	-0.264000	0.10439	CAG		0.567	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			5	12	1	0	0.014758	1	0.0148771	5	12					A	40590845	C	A	40590845	3	1	435	1	0	0	0	0	1	0	0	0	12028	680	24	5	2734	5	PLCB2	15	40590845	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32235	40590845	61940547	6456	27381											
C15orf23	90417	broad.mit.edu	37	chr15	40685710	40685710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgaaagaggaaagagtccGattcctagaacagcaaacct	17	6	10	8	1	0	4	0	1	0	3	2	7	2	5	3	1	3	1	3	1	5	2	rs200025938		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40685710G>A	ENST00000249776.8	+	9	978	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	KNSTRN_ENST00000416151.2_3'UTR|KNSTRN_ENST00000448395.2_3'UTR|KNSTRN_ENST00000608100.1_Missense_Mutation_p.R210Q	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		GAAAGAGTCCGATTCCTAGAA	0.373													G|||	1	0.000199681	8e-04	0	5008	,	,		22269	0		0	False		,,,				2504	0					ENST00000249776.8																			0											c.(862-864)cGa>cAa		kinetochore-localized astrin/SPAG5 binding protein		G	,,GLN/ARG	2,3778		0,2,1888	151	139	143		,,863	-4.6	0	15		143	0,8192		0,0,4096	no	utr-3,utr-3,missense	C15orf23	NM_001142761.1,NM_001142762.1,NM_033286.3	,,43	0,2,5984	AA,AG,GG		0.0,0.0529,0.0167	,,benign	,,288/317	40685710	2,11970	1890	4096	5986	SO:0001583	missense	90417							g.chr15:40685710G>A	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"small kinetochore-associated protein", "kinetochore-localized astrin-binding protein", "TRAF4 associated factor 1"	614718	"chromosome 15 open reading frame 23"	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.863G>A	15.37:g.40685710G>A	ENSP00000249776:p.Arg288Gln					KNSTRN_ENST00000448395.2_3'UTR|KNSTRN_ENST00000416151.2_3'UTR	p.R288Q	NM_033286.3	NP_150628.3					9	978	+									Missense_Mutation	SNP	ENST00000249776.8	37	c.863G>A	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	G	3.528	-0.096378	0.07010	5.29E-4	0.0	ENSG00000128944	ENST00000249776	T	0.22336	1.96	5.02	-4.64	0.03349	.	0.850326	0.10101	N	0.715941	T	0.07324	0.0185	N	0.03608	-0.345	0.09310	N	0.999995	B	0.19706	0.038	B	0.12837	0.008	T	0.43310	-0.9399	10	0.07325	T	0.83	-6.2627	13.032	0.58847	0.7828:0.0:0.2172:0.0	.	288	Q9Y448	T4AF1_HUMAN	Q	288	ENSP00000249776:R288Q	ENSP00000249776:R288Q	R	+	2	0	C15orf23	38473002	0.000000	0.05858	0.011000	0.14972	0.731000	0.41821	-0.703000	0.05063	-0.762000	0.04664	-0.355000	0.07637	CGA		0.373	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		30	28	0	0	0	1	0	30	28					A	40685710	G	A	40685710	3	1	435	1	0	0	0	0	1	0	0	0	1785	1058	37	2	940	2	C15orf23	15	40685710	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	94865	40685710	61845682	6457	27382											
BAHD1	22893	broad.mit.edu	37	chr15	40750862	40750862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccattggttcctgagaagCccaaggcctgcaaagtgctg	9	8	12	12	0	0	1	0	1	0	1	1	2	1	1	4	2	3	3	4	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40750862C>T	ENST00000416165.1	+	2	270	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S	BAHD1_ENST00000561234.1_Missense_Mutation_p.P67S|BAHD1_ENST00000560846.1_Missense_Mutation_p.P67S	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	67					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		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)		TCCTGAGAAGCCCAAGGCCTG	0.632																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(199-201)Ccc>Tcc		bromo adjacent homology domain containing 1							64	61	62					15																	40750862		2203	4300	6503	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40750862C>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.199C>T	15.37:g.40750862C>T	ENSP00000396976:p.Pro67Ser					BAHD1_ENST00000416165.1_Missense_Mutation_p.P67S|BAHD1_ENST00000560846.1_Missense_Mutation_p.P67S	p.P67S			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	458	+		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)	67					Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.199C>T	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866612	0.51588	.	.	ENSG00000140320	ENST00000416165	T	0.16597	2.33	5.13	5.13	0.70059	.	0.284005	0.30464	N	0.009565	T	0.07683	0.0193	N	0.08118	0	0.29412	N	0.8612	B;B;B	0.29988	0.264;0.172;0.264	B;B;B	0.24701	0.055;0.025;0.055	T	0.16897	-1.0387	10	0.23302	T	0.38	-18.7925	8.666	0.34121	0.211:0.654:0.135:0.0	.	67;67;67	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	S	67	ENSP00000396976:P67S	ENSP00000396976:P67S	P	+	1	0	BAHD1	38538154	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.364000	0.44187	2.664000	0.90586	0.650000	0.86243	CCC		0.632	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		20	29	0	0	0	1	0	20	29					T	40750862	C	T	40750862	3	4	435	1	0	0	0	0	1	0	0	0	1297	739	26	3	201	3	BAHD1	15	40750862	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	65152	40750862	61780530	6458	27383											
BAHD1	22893	broad.mit.edu	37	chr15	40756193	40756193	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttatgtggccaagatctCtgccctctgggagaaccccg	8	9	10	14	1	2	2	0	0	2	2	3	3	2	2	5	2	2	0	5	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40756193C>A	ENST00000416165.1	+	4	2020	c.1949C>A	c.(1948-1950)tCt>tAt	p.S650Y	BAHD1_ENST00000561234.1_Missense_Mutation_p.S649Y|RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000560846.1_Missense_Mutation_p.S650Y	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	650	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		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)		GCCAAGATCTCTGCCCTCTGG	0.612																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(1945-1947)tCt>tAt		bromo adjacent homology domain containing 1							89	78	82					15																	40756193		2203	4300	6503	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40756193C>A	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1949C>A	15.37:g.40756193C>A	ENSP00000396976:p.Ser650Tyr					BAHD1_ENST00000416165.1_Missense_Mutation_p.S650Y|BAHD1_ENST00000560846.1_Missense_Mutation_p.S650Y	p.S649Y			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	4	2205	+		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)	650			BAH.		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.1946C>A	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116616	0.94385	.	.	ENSG00000140320	ENST00000416165	D	0.85861	-2.04	5.28	5.28	0.74379	Bromo adjacent homology (BAH) domain (3);	0.059591	0.64402	D	0.000002	D	0.89812	0.6823	L	0.41356	1.27	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.961;1.0;0.999	D	0.90527	0.4493	10	0.87932	D	0	-20.8138	19.0957	0.93249	0.0:1.0:0.0:0.0	.	650;650;649	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	Y	650	ENSP00000396976:S650Y	ENSP00000396976:S650Y	S	+	2	0	BAHD1	38543485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.320000	0.79064	2.755000	0.94549	0.655000	0.94253	TCT		0.612	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		18	16	1	0	1.45105e-14	1	1.58388e-14	18	16					A	40756193	C	A	40756193	3	1	435	1	0	0	0	0	1	0	0	0	1297	913	32	5	1959	5	BAHD1	15	40756193	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5331	40756193	61775199	6459	27384											
RAD51	5888	broad.mit.edu	37	chr15	41020960	41020960	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgtagcatatgctcgagcGttcaacacagaccaccagac	14	7	8	12	2	1	2	1	0	0	2	2	3	1	2	2	0	4	4	2	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:41020960G>A	ENST00000267868.3	+	7	850	c.582G>A	c.(580-582)gcG>gcA	p.A194A	RAD51_ENST00000532743.1_Silent_p.A195A|RAD51_ENST00000423169.2_Silent_p.A194A|RAD51_ENST00000382643.3_Silent_p.A195A|RAD51_ENST00000557850.1_Silent_p.A97A	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	194	Interaction with PALB2.				ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-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;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		ATGCTCGAGCGTTCAACACAG	0.448								Homologous recombination																														ENST00000267868.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9						c.(580-582)gcG>gcA	Homologous recombination	RAD51 recombinase							258	235	242					15																	41020960		2203	4300	6503	SO:0001819	synonymous_variant	5888				DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity	g.chr15:41020960G>A	D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 5"	179617	"RAD51 (S. cerevisiae) homolog (E coli RecA homolog)", "RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)", "RAD51 homolog (S. cerevisiae)"	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.582G>A	15.37:g.41020960G>A						RAD51_ENST00000382643.3_Silent_p.A195A|RAD51_ENST00000557850.1_Silent_p.A97A|RAD51_ENST00000532743.1_Silent_p.A195A|RAD51_ENST00000423169.2_Silent_p.A194A	p.A194A	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)	7	850	+		all_cancers(109;1.19e-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)	194			Interaction with PALB2.		B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Silent	SNP	ENST00000267868.3	37	c.582G>A	CCDS10062.1																																																																																				0.448	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1	NM_002875, NM_133487		57	92	0	0	0	1	0	57	92					A	41020960	G	A	41020960	2	1	435	1	0	0	0	0	0	0	0	1	12985	1132	40	1		1	RAD51	15	41020960	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	264767	41020960	61510432	6460	27385											
CHAC1	79094	broad.mit.edu	37	chr15	41247791	41247791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgaagaggccattgccaCgcagatcctggcctgccggg	7	6	14	14	2	0	3	0	1	0	2	1	3	1	3	6	3	2	1	6	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:41247791C>T	ENST00000446533.3	+	3	923	c.614C>T	c.(613-615)aCg>aTg	p.T205M	CHAC1_ENST00000444189.2_Missense_Mutation_p.T160M|CHAC1_ENST00000487220.1_5'UTR	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	205					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein processing (GO:0010955)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|trans-Golgi network (GO:0005802)	Notch binding (GO:0005112)			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GCCATTGCCACGCAGATCCTG	0.622																																						ENST00000446533.3																			0				endometrium(1)|large_intestine(1)|skin(1)	3						c.(613-615)aCg>aTg		ChaC, cation transport regulator homolog 1 (E. coli)							94	92	92					15																	41247791		2203	4300	6503	SO:0001583	missense	79094				apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding	g.chr15:41247791C>T	BC019625	CCDS10070.2, CCDS45233.1	15q15.1	2013-09-12	2006-09-12		ENSG00000128965	ENSG00000128965			28680	protein-coding gene	gene with protein product	"gamma-GCT acting on glutathione homolog 1"	614587	"ChaC, cation transport regulator-like 1 (E. coli)"			23070364	Standard	NM_024111		Approved	MGC4504	uc001znh.2	Q9BUX1	OTTHUMG00000130208	ENST00000446533.3:c.614C>T	15.37:g.41247791C>T	ENSP00000398105:p.Thr205Met					CHAC1_ENST00000444189.2_Missense_Mutation_p.T160M|CHAC1_ENST00000487220.1_5'UTR	p.T205M	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)	3	923	+		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)	205					Q0VIA0	Missense_Mutation	SNP	ENST00000446533.3	37	c.614C>T	CCDS10070.2	.	.	.	.	.	.	.	.	.	.	C	5.492	0.275724	0.10403	.	.	ENSG00000128965	ENST00000446533;ENST00000444189	T	0.44083	0.93	5.78	0.0398	0.14206	Butirosin biosynthesis, BtrG-like (1);	0.289400	0.39834	N	0.001256	T	0.29783	0.0744	L	0.49126	1.545	0.23665	N	0.997165	B;B	0.26400	0.148;0.103	B;B	0.26202	0.034;0.067	T	0.14699	-1.0463	10	0.45353	T	0.12	-11.5064	3.9114	0.09205	0.23:0.5324:0.1114:0.1261	.	160;205	Q9BUX1-2;Q9BUX1	.;CHAC1_HUMAN	M	205;160	ENSP00000398105:T205M	ENSP00000395466:T160M	T	+	2	0	CHAC1	39035083	0.898000	0.30612	0.003000	0.11579	0.000000	0.00434	2.124000	0.42006	0.361000	0.24292	-1.547000	0.00903	ACG		0.622	CHAC1-001	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252526.3	NM_024111		15	108	0	0	0	1	0	15	108					T	41247791	C	T	41247791	3	4	435	1	0	0	0	0	1	0	0	0	3308	536	19	1	624	1	CHAC1	15	41247791	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	226831	41247791	61283601	6461	27386											
NDUFAF1	51103	broad.mit.edu	37	chr15	41687179	41687179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggccgaccatccccacGtacacggagatacagagtat	13	5	9	14	3	0	2	0	0	0	2	1	4	1	2	5	2	2	2	5	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:41687179G>A	ENST00000260361.4	-	3	1018	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	213					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		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;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CCATCCCCACGTACACGGAGA	0.453																																						ENST00000260361.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(637-639)Cgt>Tgt		NADH dehydrogenase (ubiquinone) complex I, assembly factor 1							134	106	115					15																	41687179		2203	4300	6503	SO:0001583	missense	51103				mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding	g.chr15:41687179G>A	AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"Mitochondrial respiratory chain complex assembly factors"	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.637C>T	15.37:g.41687179G>A	ENSP00000260361:p.Arg213Cys						p.R213C	NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)	3	1018	-		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)	213					Q9BVZ5	Missense_Mutation	SNP	ENST00000260361.4	37	c.637C>T	CCDS10075.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143564	0.94603	.	.	ENSG00000137806	ENST00000260361	T	0.79554	-1.28	5.63	5.63	0.86233	NADH:ubiquinone oxidoreductase intermediate-associated protein 30 (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.92163	0.7515	M	0.92317	3.295	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	D	0.93264	0.6646	10	0.87932	D	0	.	20.1137	0.97918	0.0:0.0:1.0:0.0	.	213	Q9Y375	CIA30_HUMAN	C	213	ENSP00000260361:R213C	ENSP00000260361:R213C	R	-	1	0	NDUFAF1	39474471	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	7.621000	0.83083	2.829000	0.97493	0.551000	0.68910	CGT		0.453	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2	NM_016013		14	21	0	0	0	1	0	14	21					A	41687179	G	A	41687179	3	1	435	1	0	0	0	0	1	0	0	0	10274	1145	40	1	358	1	NDUFAF1	15	41687179	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	439388	41687179	60844213	6462	27387											
RPAP1	26015	broad.mit.edu	37	chr15	41819399	41819399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggaatgccgggccaggCggatgagcacagccaggatg	10	3	17	11	2	0	1	0	1	0	0	0	4	0	4	4	5	3	1	4	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:41819399C>T	ENST00000304330.4	-	13	1828	c.1712G>A	c.(1711-1713)cGc>cAc	p.R571H	RPAP1_ENST00000568413.1_5'Flank|RPAP1_ENST00000561603.1_Missense_Mutation_p.R571H	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	571						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCGGGCCAGGCGGATGAGCAC	0.617																																						ENST00000304330.4																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(1711-1713)cGc>cAc		RNA polymerase II associated protein 1							54	53	54					15																	41819399		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41819399C>T	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1712G>A	15.37:g.41819399C>T	ENSP00000306123:p.Arg571His					RPAP1_ENST00000561603.1_Missense_Mutation_p.R571H	p.R571H	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN		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)	13	1828	-		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)	571					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.1712G>A	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036860	0.54896	.	.	ENSG00000103932	ENST00000304330	T	0.16073	2.37	5.1	5.1	0.69264	.	0.231474	0.45126	D	0.000384	T	0.13884	0.0336	L	0.42008	1.315	0.53688	D	0.999973	B	0.31817	0.341	B	0.26864	0.074	T	0.03278	-1.1053	10	0.87932	D	0	-16.5021	8.2741	0.31862	0.0:0.8303:0.0:0.1697	.	571	Q9BWH6	RPAP1_HUMAN	H	571	ENSP00000306123:R571H	ENSP00000306123:R571H	R	-	2	0	RPAP1	39606691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.446000	0.60014	2.530000	0.85305	0.563000	0.77884	CGC		0.617	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		10	21	0	0	0	1	0	10	21					T	41819399	C	T	41819399	3	4	435	1	0	0	0	0	1	0	0	0	13541	768	27	1	2521	1	RPAP1	15	41819399	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	132220	41819399	60711993	6463	27388											
MGA	23269	broad.mit.edu	37	chr15	42003160	42003160	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctctcgaaaggcaaaGtctcaaaacagacaggcaac	15	6	8	12	1	2	1	1	0	2	1	5	2	2	1	1	2	2	2	1	2	5	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42003160G>A	ENST00000570161.1	+	7	2697	c.2697G>A	c.(2695-2697)aaG>aaA	p.K899K	MGA_ENST00000545763.1_Silent_p.K899K|MGA_ENST00000389936.4_Silent_p.K899K|MGA_ENST00000566586.1_Silent_p.K899K|MGA_ENST00000219905.7_Silent_p.K899K			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			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)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAAAGGCAAAGTCTCAAAACA	0.393																																						ENST00000219905.7																			0				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						c.(2695-2697)aaG>aaA		MGA, MAX dimerization protein							145	143	143					15																	42003160		1851	4093	5944	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42003160G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2697G>A	15.37:g.42003160G>A						MGA_ENST00000566586.1_Silent_p.K899K|MGA_ENST00000570161.1_Silent_p.K899K|MGA_ENST00000389936.4_Silent_p.K899K|MGA_ENST00000545763.1_Silent_p.K899K	p.K899K	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		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)	8	2878	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	899					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.2697G>A	CCDS55959.1																																																																																				0.393	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		40	63	0	0	0	1	0	40	63					A	42003160	G	A	42003160	2	1	435	1	0	0	0	0	0	0	0	1	9540	1020	36	3		3	MGA	15	42003160	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	183761	42003160	60528232	6464	27389											
MGA	23269	broad.mit.edu	37	chr15	42041326	42041326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtctgtgatgggaatcCggttacctgctccttccaaa	8	11	11	11	1	1	1	0	1	1	0	4	2	4	2	4	3	2	2	4	3	3	2	rs377364179		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42041326C>T	ENST00000570161.1	+	16	5521	c.5521C>T	c.(5521-5523)Cgg>Tgg	p.R1841W	MGA_ENST00000545763.1_Missense_Mutation_p.R1632W|MGA_ENST00000389936.4_Missense_Mutation_p.R1802W|MGA_ENST00000566586.1_Missense_Mutation_p.R1632W|MGA_ENST00000219905.7_Missense_Mutation_p.R1841W			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			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)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATGGGAATCCGGTTACCTGC	0.418																																						ENST00000219905.7																			0				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						c.(5521-5523)Cgg>Tgg		MGA, MAX dimerization protein		C	TRP/ARG,TRP/ARG	0,3780		0,0,1890	109	103	105		4894,5521	5.7	1	15		105	1,8229		0,1,4114	no	missense,missense	MGA	NM_001080541.2,NM_001164273.1	101,101	0,1,6004	TT,TC,CC		0.0122,0.0,0.0083	probably-damaging,probably-damaging	1632/2857,1841/3066	42041326	1,12009	1890	4115	6005	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42041326C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5521C>T	15.37:g.42041326C>T	ENSP00000457035:p.Arg1841Trp					MGA_ENST00000566586.1_Missense_Mutation_p.R1632W|MGA_ENST00000570161.1_Missense_Mutation_p.R1841W|MGA_ENST00000389936.4_Missense_Mutation_p.R1802W|MGA_ENST00000545763.1_Missense_Mutation_p.R1632W	p.R1841W	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		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)	17	5702	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1802					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.5521C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201600	0.58234	0.0	1.22E-4	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.37411	1.2;1.2;1.2	5.72	5.72	0.89469	.	0.754840	0.11002	N	0.610431	T	0.49133	0.1539	N	0.24115	0.695	0.21897	N	0.999489	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.952;0.985;0.993;0.993	T	0.49725	-0.8909	10	0.87932	D	0	.	15.3283	0.74186	0.14:0.86:0.0:0.0	.	457;1632;1841;1802	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	W	1841;1802;1632	ENSP00000219905:R1841W;ENSP00000374586:R1802W;ENSP00000442467:R1632W	ENSP00000219905:R1841W	R	+	1	2	MGA	39828618	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.898000	0.56281	2.704000	0.92352	0.563000	0.77884	CGG		0.418	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		14	34	0	0	0	1	0	14	34					T	42041326	C	T	42041326	3	4	435	1	0	0	0	0	1	0	0	0	9540	643	23	2	5583	2	MGA	15	42041326	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	38166	42041326	60490066	6465	27390											
MAPKBP1	23005	broad.mit.edu	37	chr15	42111443	42111443	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttccttgtctcggactcaGgcaccaggccccatcaatgc	7	9	8	17	1	3	0	2	0	1	0	5	1	4	1	5	3	1	1	5	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42111443G>T	ENST00000456763.2	+	22	2505		c.e22-1		MAPKBP1_ENST00000260357.7_Splice_Site|MAPKBP1_ENST00000457542.2_Splice_Site|MAPKBP1_ENST00000221214.6_Splice_Site|MAPKBP1_ENST00000514566.1_Splice_Site	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1											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)		CTCGGACTCAGGCACCAGGCC	0.562																																						ENST00000457542.2																			0				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						c.e21-1		mitogen-activated protein kinase binding protein 1							80	80	80					15																	42111443		2203	4300	6503	SO:0001630	splice_region_variant	23005							g.chr15:42111443G>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2310-1G>T	15.37:g.42111443G>T						MAPKBP1_ENST00000260357.7_Splice_Site|MAPKBP1_ENST00000514566.1_Splice_Site|MAPKBP1_ENST00000221214.6_Splice_Site|MAPKBP1_ENST00000456763.2_Splice_Site		NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		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)	21	2577	+		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)						A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Splice_Site	SNP	ENST00000456763.2	37		CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	12.31	1.900440	0.33535	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0182	0.92902	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAPKBP1	39898735	1.000000	0.71417	0.979000	0.43373	0.018000	0.09664	6.730000	0.74780	2.720000	0.93068	0.556000	0.70494	.		0.562	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	Intron	37	26	1	0	4.07013e-28	1	4.55483e-28	37	26					T	42111443	G	T	42111443	5	4	435	1	0	0	0	0	0	0	1	0	9292	1014	35	5	2391	5	MAPKBP1	15	42111443	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	70117	42111443	60419949	6466	27391											
JMJD7-PLA2G4B	100137049	broad.mit.edu	37	chr15	42134140	42134140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaggagctgagtattcGcctgcaggtagtgtgcctcg	7	9	16	9	2	0	1	0	1	0	0	2	3	0	3	2	3	4	5	2	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42134140G>A	ENST00000452633.1	+	9	966	c.614G>A	c.(613-615)cGc>cAc	p.R205H	PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R205H|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.R436H|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.R436H|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R436H			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	205					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CTGAGTATTCGCCTGCAGGTA	0.657																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(1306-1308)cGc>cAc									37	32	34					15																	42134140		2203	4300	6503	SO:0001583	missense	0				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	g.chr15:42134140G>A	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.614G>A	15.37:g.42134140G>A	ENSP00000396045:p.Arg205His					PLA2G4B_ENST00000452633.1_Missense_Mutation_p.R205H|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R436H|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R205H	p.R436H	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			13	1316	+			205			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.1307G>A	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	3.544	-0.093163	0.07053	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.01538	5.1;4.79;5.02;5.02	4.7	2.32	0.28847	.	0.830684	0.10499	N	0.667532	T	0.00875	0.0029	N	0.02296	-0.605	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.49753	-0.8906	10	0.23302	T	0.38	-5.2036	4.0616	0.09841	0.6762:0.0:0.1728:0.151	.	205;436;436	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	H	436;436;205;205	ENSP00000371886:R436H;ENSP00000342785:R436H;ENSP00000416610:R205H;ENSP00000396045:R205H	ENSP00000342785:R436H	R	+	2	0	JMJD7-PLA2G4B;PLA2G4B	39921432	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	-0.008000	0.12788	-0.032000	0.13758	-0.254000	0.11334	CGC		0.657	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		7	12	0	0	0	1	0	7	12					A	42134140	G	A	42134140	3	1	435	1	0	0	0	0	1	0	0	0	7955	1087	38	1	1357	1	JMJD7-PLA2G4B	15	42134140	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22697	42134140	60397252	6467	27392											
JMJD7-PLA2G4B	100137049	broad.mit.edu	37	chr15	42138157	42138157	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtatctggagcaacctGtatgcagccaacctccagga	11	8	10	12	0	2	0	1	0	1	0	3	2	3	2	4	3	5	4	4	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42138157G>A	ENST00000452633.1	+	17	1864	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	PLA2G4B_ENST00000458483.1_Silent_p.L504L|PLA2G4B_ENST00000542534.2_Silent_p.L735L|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.L735L|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.L735L			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	504	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GGAGCAACCTGTATGCAGCCA	0.612																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(2203-2205)ctG>ctA									48	50	50					15																	42138157		2203	4300	6503	SO:0001819	synonymous_variant	0				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	g.chr15:42138157G>A	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1512G>A	15.37:g.42138157G>A						PLA2G4B_ENST00000452633.1_Silent_p.L504L|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.L735L|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.L504L	p.L735L	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			21	2214	+			504			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	37	c.2205G>A	CCDS45241.1																																																																																				0.612	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		26	32	0	0	0	1	0	26	32					A	42138157	G	A	42138157	2	1	435	1	0	0	0	0	0	0	0	1	7955	1364	48	3		3	JMJD7-PLA2G4B	15	42138157	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4017	42138157	60393235	6468	27393											
SPTBN5	51332	broad.mit.edu	37	chr15	42144411	42144411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcgtctcagccagctgtgctCctagcccctggtgtccagag	5	10	11	15	1	1	1	1	0	1	1	5	1	3	1	5	1	4	2	5	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42144411C>T	ENST00000320955.6	-	62	10780	c.10553G>A	c.(10552-10554)gGa>gAa	p.G3518E	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3518					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CAGCTGTGCTCCTAGCCCCTG	0.672																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(10552-10554)gGa>gAa		spectrin, beta, non-erythrocytic 5							23	29	27					15																	42144411		2078	4215	6293	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42144411C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10553G>A	15.37:g.42144411C>T	ENSP00000317790:p.Gly3518Glu						p.G3518E	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		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)	62	10780	-		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)	3518						Missense_Mutation	SNP	ENST00000320955.6	37	c.10553G>A		.	.	.	.	.	.	.	.	.	.	.	0.092	-1.166065	0.01673	.	.	ENSG00000137877	ENST00000320955	T	0.71222	-0.55	3.31	1.29	0.21616	.	0.278593	0.25058	N	0.033475	T	0.46328	0.1387	L	0.27053	0.805	0.09310	N	1	P	0.48162	0.906	B	0.41036	0.346	T	0.52503	-0.8567	10	0.02654	T	1	.	5.6329	0.17520	0.2259:0.5546:0.2195:0.0	.	3518	Q9NRC6	SPTN5_HUMAN	E	3518	ENSP00000317790:G3518E	ENSP00000317790:G3518E	G	-	2	0	SPTBN5	39931703	0.000000	0.05858	0.009000	0.14445	0.034000	0.12701	-0.180000	0.09754	0.202000	0.20498	0.655000	0.94253	GGA		0.672	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		11	12	0	0	0	1	0	11	12					T	42144411	C	T	42144411	3	4	435	1	0	0	0	0	1	0	0	0	15121	855	30	3	499	3	SPTBN5	15	42144411	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6254	42144411	60386981	6469	27394											
SPTBN5	51332	broad.mit.edu	37	chr15	42154447	42154447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcaattcctgcagcattgCctggagtttctgagcttggt	7	13	11	10	0	1	1	0	1	1	0	2	2	2	2	2	2	5	5	2	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42154447C>T	ENST00000320955.6	-	44	7656	c.7429G>A	c.(7429-7431)Gca>Aca	p.A2477T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2477					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCAGCATTGCCTGGAGTTTC	0.632																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(7429-7431)Gca>Aca		spectrin, beta, non-erythrocytic 5							39	42	41					15																	42154447		2071	4229	6300	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42154447C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.7429G>A	15.37:g.42154447C>T	ENSP00000317790:p.Ala2477Thr						p.A2477T	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		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)	44	7656	-		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)	2477						Missense_Mutation	SNP	ENST00000320955.6	37	c.7429G>A		.	.	.	.	.	.	.	.	.	.	.	11.05	1.526131	0.27299	.	.	ENSG00000137877	ENST00000320955	T	0.50548	0.74	4.75	1.29	0.21616	.	0.438834	0.20096	N	0.099335	T	0.29556	0.0737	L	0.39898	1.24	0.09310	N	1	B	0.27166	0.17	B	0.26310	0.068	T	0.09907	-1.0653	10	0.18710	T	0.47	.	2.7534	0.05287	0.2292:0.3469:0.0:0.4239	.	2477	Q9NRC6	SPTN5_HUMAN	T	2477	ENSP00000317790:A2477T	ENSP00000317790:A2477T	A	-	1	0	SPTBN5	39941739	0.002000	0.14202	0.243000	0.24186	0.312000	0.27988	0.078000	0.14761	0.409000	0.25649	0.467000	0.42956	GCA		0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		17	33	0	0	0	1	0	17	33					T	42154447	C	T	42154447	3	4	435	1	0	0	0	0	1	0	0	0	15121	739	26	3	3695	3	SPTBN5	15	42154447	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10036	42154447	60376945	6470	27395											
SPTBN5	51332	broad.mit.edu	37	chr15	42162698	42162698	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaactctgagggtggtctcGgtgtctcggagcgcgtggcc	4	10	17	10	4	3	2	0	2	3	0	5	3	3	3	1	5	2	0	1	5	1	0	rs375645263		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42162698G>A	ENST00000320955.6	-	30	5735	c.5508C>T	c.(5506-5508)acC>acT	p.T1836T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1836					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGGTGGTCTCGGTGTCTCGGA	0.652																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(5506-5508)acC>acT		spectrin, beta, non-erythrocytic 5							77	81	79					15																	42162698		2037	4183	6220	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42162698G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5508C>T	15.37:g.42162698G>A							p.T1836T	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		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)	30	5735	-		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)	1836						Silent	SNP	ENST00000320955.6	37	c.5508C>T																																																																																					0.652	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		11	19	0	0	0	1	0	11	19					A	42162698	G	A	42162698	2	1	435	1	0	0	0	0	0	0	0	1	15121	1103	39	2		2	SPTBN5	15	42162698	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8251	42162698	60368694	6471	27396											
EHD4	30844	broad.mit.edu	37	chr15	42193242	42193242	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgccctgcaccagctgCgtgggcgtgctcgtctcctc	2	8	13	18	5	1	0	0	0	1	0	4	0	1	0	4	1	4	3	4	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42193242C>T	ENST00000220325.4	-	6	1310	c.1227G>A	c.(1225-1227)acG>acA	p.T409T	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	409					cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		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)		GCACCAGCTGCGTGGGCGTGC	0.657																																						ENST00000220325.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20						c.(1225-1227)acG>acA		EH-domain containing 4							67	59	62					15																	42193242		2203	4299	6502	SO:0001819	synonymous_variant	30844				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	g.chr15:42193242C>T	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"EF-hand domain containing"	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1227G>A	15.37:g.42193242C>T							p.T409T	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN		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)	6	1310	-		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)	409					Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	c.1227G>A	CCDS10081.1																																																																																				0.657	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		18	24	0	0	0	1	0	18	24					T	42193242	C	T	42193242	2	4	435	1	0	0	0	0	0	0	0	1	4980	755	27	1		1	EHD4	15	42193242	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30544	42193242	60338150	6472	27397											
TMEM87A	25963	broad.mit.edu	37	chr15	42523405	42523405	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatccaccagcacaaggcAgtgtctaggaaagccaaggg	14	5	12	10	0	1	0	0	0	1	0	2	2	2	1	3	3	2	2	3	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42523405A>G	ENST00000389834.4	-	12	1380	c.1116T>C	c.(1114-1116)acT>acC	p.T372T	TMEM87A_ENST00000448392.1_Silent_p.T311T	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	372						integral component of membrane (GO:0016021)				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)		AGCACAAGGCAGTGTCTAGGA	0.448																																						ENST00000389834.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1114-1116)acT>acC		transmembrane protein 87A							137	116	123					15																	42523405		2203	4299	6502	SO:0001819	synonymous_variant	25963					integral to membrane		g.chr15:42523405A>G	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.1116T>C	15.37:g.42523405A>G						TMEM87A_ENST00000448392.1_Silent_p.T311T	p.T372T	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	12	1380	-		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)	372					Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Silent	SNP	ENST00000389834.4	37	c.1116T>C	CCDS32205.1																																																																																				0.448	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		5	26	0	0	0	1	0	5	26					G	42523405	A	G	42523405	2	3	435	1	0	0	0	0	0	0	0	1	16207	175	7	4		4	TMEM87A	15	42523405	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	330163	42523405	60007987	6473	27398											
GANC	2595	broad.mit.edu	37	chr15	42632023	42632023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaacacacccgactcatccGagaagccatcagagagcgct	13	4	10	14	3	2	2	2	0	0	2	3	6	3	3	3	1	3	1	3	1	2	0	rs369979153		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42632023G>A	ENST00000318010.8	+	17	2240	c.2000G>A	c.(1999-2001)cGa>cAa	p.R667Q		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	667					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	CGACTCATCCGAGAAGCCATC	0.557																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1999-2001)cGa>cAa		glucosidase, alpha; neutral C		G	GLN/ARG	0,4406		0,0,2203	65	51	55		2000	5.1	1	15		55	1,8597	1.2+/-3.3	0,1,4298	no	missense	GANC	NM_198141.2	43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	667/915	42632023	1,13003	2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42632023G>A	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2000G>A	15.37:g.42632023G>A	ENSP00000326227:p.Arg667Gln						p.R667Q	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	17	2240	+		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)	667					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.2000G>A	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484804	0.84854	0.0	1.16E-4	ENSG00000214013	ENST00000318010	D	0.93076	-3.16	6.02	5.11	0.69529	Glycoside hydrolase, superfamily (1);	0.119532	0.52532	D	0.000064	D	0.96790	0.8952	M	0.90542	3.125	0.58432	D	0.999997	D	0.76494	0.999	D	0.71870	0.975	D	0.96872	0.9640	10	0.56958	D	0.05	-1.53	11.5743	0.50852	0.1362:0.0:0.8638:0.0	.	667	Q8TET4	GANC_HUMAN	Q	667	ENSP00000326227:R667Q	ENSP00000326227:R667Q	R	+	2	0	GANC	40419315	1.000000	0.71417	0.998000	0.56505	0.503000	0.33858	6.699000	0.74613	1.558000	0.49541	0.650000	0.86243	CGA		0.557	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		17	22	0	0	0	1	0	17	22					A	42632023	G	A	42632023	3	1	435	1	0	0	0	0	1	0	0	0	6234	1058	37	2	2066	2	GANC	15	42632023	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	108618	42632023	59899369	6474	27399											
CAPN3	825	broad.mit.edu	37	chr15	42681141	42681141	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaaggctccatggttcctaCgaagctctgaaaggtgggaa	11	9	12	9	1	1	1	0	1	1	0	3	3	3	2	2	4	2	3	2	4	5	3	rs138846390		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42681141C>T	ENST00000397163.3	+	5	867	c.648C>T	c.(646-648)taC>taT	p.Y216Y	CAPN3_ENST00000318023.7_Silent_p.Y216Y|CAPN3_ENST00000356316.3_Silent_p.Y129Y|CAPN3_ENST00000349748.3_Silent_p.Y216Y|CAPN3_ENST00000357568.3_Silent_p.Y216Y|RP11-164J13.1_ENST00000495723.1_RNA	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	216	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.		Missing (in LGMD2A).		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		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)		ATGGTTCCTACGAAGCTCTGA	0.512													C|||	1	0.000199681	8e-04	0	5008	,	,		18843	0		0	False		,,,				2504	0					ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(646-648)taC>taT		calpain 3, (p94)							117	118	118					15																	42681141		2203	4299	6502	SO:0001819	synonymous_variant	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42681141C>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.648C>T	15.37:g.42681141C>T						RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Silent_p.Y216Y|CAPN3_ENST00000318023.7_Silent_p.Y216Y|CAPN3_ENST00000349748.3_Silent_p.Y216Y|CAPN3_ENST00000356316.3_Silent_p.Y129Y	p.Y216Y	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	5	867	+		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)	216		Missing (in LGMD2A).	Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	c.648C>T	CCDS45245.1																																																																																				0.512	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			13	71	0	0	0	1	0	13	71					T	42681141	C	T	42681141	2	4	435	1	0	0	0	0	0	0	0	1	2628	547	19	1		1	CAPN3	15	42681141	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	49118	42681141	59850251	6475	27400											
ZFP106	64397	broad.mit.edu	37	chr15	42740533	42740533	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggataattgtgcactatgtcGcctttgggtagcaacatttt	9	15	10	7	1	0	0	0	0	0	0	1	1	0	1	1	2	3	3	1	2	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42740533G>A	ENST00000263805.4	-	3	3129	c.2803C>T	c.(2803-2805)Cga>Tga	p.R935*	ZNF106_ENST00000565380.1_Nonsense_Mutation_p.R163*|ZNF106_ENST00000565611.1_Nonsense_Mutation_p.R120*	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	935					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCACTATGTCGCCTTTGGGTA	0.478																																						ENST00000263805.4																			0											c.(2803-2805)Cga>Tga		zinc finger protein 106							200	200	200					15																	42740533		2203	4299	6502	SO:0001587	stop_gained	64397							g.chr15:42740533G>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2803C>T	15.37:g.42740533G>A	ENSP00000263805:p.Arg935*					ZNF106_ENST00000565611.1_Nonsense_Mutation_p.R120*|ZNF106_ENST00000565380.1_Nonsense_Mutation_p.R163*	p.R935*	NM_022473.1	NP_071918.1					3	3129	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Nonsense_Mutation	SNP	ENST00000263805.4	37	c.2803C>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	43	10.059086	0.99327	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	.	.	.	5.04	3.06	0.35304	.	0.319446	0.26769	N	0.022599	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.299	10.9548	0.47351	0.0:0.1142:0.6469:0.2389	.	.	.	.	X	935;163	.	ENSP00000263805:R935X	R	-	1	2	ZFP106	40527825	0.998000	0.40836	0.978000	0.43139	0.849000	0.48306	1.447000	0.35101	1.335000	0.45486	-0.150000	0.13652	CGA		0.478	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		73	82	0	0	0	1	0	73	82					A	42740533	G	A	42740533	4	1	435	1	0	0	0	0	0	1	0	0	17634	1095	38	1	2916	1	ZFP106	15	42740533	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59392	42740533	59790859	6476	27401											
ZFP106	64397	broad.mit.edu	37	chr15	42740885	42740885	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttcattttgaacaaggggTaccatttctatgccaaacct	11	14	7	9	0	2	1	1	1	1	0	2	1	2	1	3	2	4	2	3	2	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42740885T>C	ENST00000263805.4	-	3	2777	c.2451A>G	c.(2449-2451)gtA>gtG	p.V817V	ZNF106_ENST00000565380.1_Silent_p.V45V|ZNF106_ENST00000565611.1_Silent_p.V2V	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	817					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GAACAAGGGGTACCATTTCTA	0.408																																						ENST00000263805.4																			0											c.(2449-2451)gtA>gtG		zinc finger protein 106							39	40	40					15																	42740885		2203	4299	6502	SO:0001819	synonymous_variant	64397							g.chr15:42740885T>C	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2451A>G	15.37:g.42740885T>C						ZNF106_ENST00000565611.1_Silent_p.V2V|ZNF106_ENST00000565380.1_Silent_p.V45V	p.V817V	NM_022473.1	NP_071918.1					3	2777	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	c.2451A>G	CCDS32208.1																																																																																				0.408	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		13	26	0	0	0	1	0	13	26					C	42740885	T	C	42740885	2	2	435	1	0	0	0	0	0	0	0	1	17634	1625	57	4		4	ZFP106	15	42740885	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	352	42740885	59790507	6477	27402											
CDAN1	146059	broad.mit.edu	37	chr15	43017403	43017403	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatctccatccgtcccatcAgacccttctccaccagctcc	7	10	3	21	1	3	1	1	0	2	1	8	1	6	1	7	0	1	1	7	0	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43017403A>G	ENST00000356231.3	-	27	3520	c.3497T>C	c.(3496-3498)cTg>cCg	p.L1166P		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1166					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)		CCGTCCCATCAGACCCTTCTC	0.582																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(3496-3498)cTg>cCg		codanin 1							68	63	65					15																	43017403		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43017403A>G	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.3497T>C	15.37:g.43017403A>G	ENSP00000348564:p.Leu1166Pro						p.L1166P	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	27	3520	-		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)	1166					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.3497T>C	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430767	0.83776	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.92249	-3.0	6.07	6.07	0.98685	.	0.126094	0.53938	D	0.000046	D	0.95516	0.8543	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95798	0.8830	10	0.87932	D	0	-12.5414	14.5809	0.68288	1.0:0.0:0.0:0.0	.	1166;1164	Q8IWY9;C9K0H8	CDAN1_HUMAN;.	P	1166;1164	ENSP00000348564:L1166P	ENSP00000267892:L1164P	L	-	2	0	CDAN1	40804695	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.331000	0.72929	2.326000	0.78906	0.533000	0.62120	CTG		0.582	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		6	18	0	0	0	1	0	6	18					G	43017403	A	G	43017403	3	3	435	1	0	0	0	0	1	0	0	0	3054	188	7	4	194	4	CDAN1	15	43017403	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	276518	43017403	59513989	6478	27403											
TTBK2	146057	broad.mit.edu	37	chr15	43122251	43122251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcctcgggactggctaCggcgaagatctgccagattc	8	9	13	11	3	1	2	0	0	1	2	3	4	1	3	2	3	3	1	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43122251C>T	ENST00000267890.6	-	5	425	c.317G>A	c.(316-318)cGt>cAt	p.R106H	TTBK2_ENST00000567840.1_Missense_Mutation_p.R106H|TTBK2_ENST00000567274.1_Missense_Mutation_p.R106H	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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)		GGACTGGCTACGGCGAAGATC	0.428																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(316-318)cGt>cAt		tau tubulin kinase 2							84	78	80					15																	43122251		1868	4124	5992	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43122251C>T	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.317G>A	15.37:g.43122251C>T	ENSP00000267890:p.Arg106His					TTBK2_ENST00000567274.1_Missense_Mutation_p.R106H|TTBK2_ENST00000567840.1_Missense_Mutation_p.R106H	p.R106H	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	5	425	-		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)	106			Protein kinase.		O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.317G>A	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763396	0.69763	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.66460	-0.21	5.88	5.88	0.94601	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79907	0.4527	L	0.51914	1.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.997;1.0	T	0.80025	-0.1555	10	0.87932	D	0	.	20.2405	0.98372	0.0:1.0:0.0:0.0	.	86;37;106;106	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	H	106;36;86	ENSP00000267890:R106H	ENSP00000263802:R86H	R	-	2	0	TTBK2	40909543	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.797000	0.96272	0.561000	0.74099	CGT		0.428	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		18	31	0	0	0	1	0	18	31					T	43122251	C	T	43122251	3	4	435	1	0	0	0	0	1	0	0	0	16674	536	19	1	3461	1	TTBK2	15	43122251	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	104848	43122251	59409141	6479	27404											
TMEM62	80021	broad.mit.edu	37	chr15	43444000	43444000	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttaggtaccggattttTgcttttgatcacgacctctt	6	18	8	9	2	3	1	1	1	2	0	3	3	3	2	2	2	2	2	2	2	2	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43444000T>C	ENST00000260403.2	+	8	1158	c.879T>C	c.(877-879)ttT>ttC	p.F293F		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	293						integral component of membrane (GO:0016021)				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)		ACCGGATTTTTGCTTTTGATC	0.358																																						ENST00000260403.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(877-879)ttT>ttC		transmembrane protein 62							213	193	200					15																	43444000		2203	4299	6502	SO:0001819	synonymous_variant	80021					integral to membrane		g.chr15:43444000T>C	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.879T>C	15.37:g.43444000T>C							p.F293F	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	8	1158	+		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)	293					Q6I9Y5|Q9H5J6	Silent	SNP	ENST00000260403.2	37	c.879T>C	CCDS32210.1																																																																																				0.358	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		51	67	0	0	0	1	0	51	67					C	43444000	T	C	43444000	2	2	435	1	0	0	0	0	0	0	0	1	16186	1809	63	4		4	TMEM62	15	43444000	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	321749	43444000	59087392	6480	27405											
TGM5	9333	broad.mit.edu	37	chr15	43544999	43544999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacccagcattgcccgtagcGcacgggctggcagcctgtgg	6	6	15	14	3	0	0	0	0	0	0	0	1	0	0	3	3	4	5	3	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43544999G>A	ENST00000220420.5	-	6	827	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	TGM5_ENST00000349114.4_Missense_Mutation_p.R192C	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	274					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R274C(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TGCCCGTAGCGCACGGGCTGG	0.582																																						ENST00000220420.5																			1	Substitution - Missense(1)	p.R274C(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(820-822)Cgc>Tgc		transglutaminase 5	L-Glutamine(DB00130)						76	73	74					15																	43544999		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43544999G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.820C>T	15.37:g.43544999G>A	ENSP00000220420:p.Arg274Cys					TGM5_ENST00000349114.4_Missense_Mutation_p.R192C	p.R274C	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	6	827	-		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)	274					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.820C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334291	0.41297	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.57595	0.39;0.39	4.88	1.2	0.21068	Transglutaminase-like (2);	0.146541	0.40064	N	0.001190	T	0.58538	0.2129	L	0.53729	1.69	0.40067	D	0.975968	D;D	0.89917	1.0;0.997	D;P	0.64042	0.921;0.873	T	0.58901	-0.7554	10	0.87932	D	0	-8.2033	5.8747	0.18822	0.098:0.0:0.4086:0.4934	.	192;274	O43548-2;O43548	.;TGM5_HUMAN	C	274;192;273	ENSP00000220420:R274C;ENSP00000220419:R192C	ENSP00000220420:R274C	R	-	1	0	TGM5	41332291	0.043000	0.20138	0.927000	0.36925	0.057000	0.15508	1.149000	0.31626	0.525000	0.28522	0.655000	0.94253	CGC		0.582	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		27	28	0	0	0	1	0	27	28					A	43544999	G	A	43544999	3	1	435	1	0	0	0	0	1	0	0	0	15830	1087	38	1	1374	1	TGM5	15	43544999	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	100999	43544999	58986393	6481	27406											
TUBGCP4	27229	broad.mit.edu	37	chr15	43692277	43692277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtacttactgagtgtgcGccgggtgcaagctgagctgc	8	10	14	9	2	0	2	0	2	0	0	0	2	0	2	1	1	7	4	1	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43692277G>A	ENST00000260383.7	+	14	1711	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.R485H			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	486					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CTGAGTGTGCGCCGGGTGCAA	0.483																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(1453-1455)cGc>cAc		tubulin, gamma complex associated protein 4							93	90	91					15																	43692277		1968	4168	6136	SO:0001583	missense	27229				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	g.chr15:43692277G>A	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1457G>A	15.37:g.43692277G>A	ENSP00000260383:p.Arg486His					TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.R486H	p.R485H	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	14	1694	+		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)	486					B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37	c.1454G>A		.	.	.	.	.	.	.	.	.	.	G	23.7	4.446129	0.84101	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.2	5.2	0.72013	.	0.095172	0.85682	D	0.000000	T	0.72053	0.3413	L	0.52011	1.625	0.80722	D	1	D;D	0.67145	0.996;0.995	P;P	0.58266	0.836;0.747	T	0.74213	-0.3738	9	0.87932	D	0	-14.7942	18.2666	0.90054	0.0:0.0:1.0:0.0	.	486;485	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	H	485	.	ENSP00000260383:R485H	R	+	2	0	TUBGCP4	41479569	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	9.601000	0.98297	2.861000	0.98227	0.655000	0.94253	CGC		0.483	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		4	21	0	0	0	1	0	4	21					A	43692277	G	A	43692277	3	1	435	1	0	0	0	0	1	0	0	0	16765	1087	38	1	1508	1	TUBGCP4	15	43692277	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	147278	43692277	58839115	6482	27407											
TUBGCP4	27229	broad.mit.edu	37	chr15	43693986	43693986	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagactttgaaagcatcCgattggctcatgaccacttc	10	10	8	13	2	1	3	1	2	0	1	3	5	2	3	3	1	1	2	3	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43693986C>T	ENST00000260383.7	+	15	1926	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Nonsense_Mutation_p.R557*			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	558					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGAAAGCATCCGATTGGCTCA	0.423																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(1669-1671)Cga>Tga		tubulin, gamma complex associated protein 4							135	127	129					15																	43693986		1907	4130	6037	SO:0001587	stop_gained	27229				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	g.chr15:43693986C>T	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1672C>T	15.37:g.43693986C>T	ENSP00000260383:p.Arg558*					TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000260383.7_Nonsense_Mutation_p.R558*	p.R557*	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	15	1909	+		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)	558					B3KNK6|Q969X3|Q9NVF0	Nonsense_Mutation	SNP	ENST00000260383.7	37	c.1669C>T		.	.	.	.	.	.	.	.	.	.	C	42	9.353226	0.99145	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.87	5.87	0.94306	.	0.126603	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-12.9544	19.5705	0.95413	0.0:1.0:0.0:0.0	.	.	.	.	X	557	.	ENSP00000260383:R557X	R	+	1	2	TUBGCP4	41481278	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.945000	0.56637	2.941000	0.99782	0.655000	0.94253	CGA		0.423	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		40	54	0	0	0	1	0	40	54					T	43693986	C	T	43693986	4	4	435	1	0	0	0	0	0	1	0	0	16765	644	23	2	1727	2	TUBGCP4	15	43693986	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1709	43693986	58837406	6483	27408											
TP53BP1	7158	broad.mit.edu	37	chr15	43720314	43720314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggattgttctcatgtgaCgatgtaagacatggccatgt	9	12	11	9	2	1	2	1	1	1	1	2	4	1	3	2	2	0	2	2	2	1	3	rs375277812		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43720314C>T	ENST00000263801.3	-	18	3965	c.3713G>A	c.(3712-3714)cGt>cAt	p.R1238H	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1243H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1243H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1243H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1238					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			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)		TCTCATGTGACGATGTAAGAC	0.438								Other conserved DNA damage response genes																														ENST00000263801.3																			0				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						c.(3712-3714)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53 binding protein 1		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4402		0,0,2201	232	200	211		3728,3728,3713	5.5	1	15		211	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	TP53BP1	NM_001141979.1,NM_001141980.1,NM_005657.2	29,29,29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1243/1976,1243/1978,1238/1973	43720314	1,12997	2201	4298	6499	SO:0001583	missense	7158				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	g.chr15:43720314C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3713G>A	15.37:g.43720314C>T	ENSP00000263801:p.Arg1238His					TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1243H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1243H|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1243H	p.R1238H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	18	3965	-		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)	1238					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.3713G>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	35	5.589927	0.96590	0.0	1.16E-4	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.09073	3.15;3.15;3.02;3.14	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.22205	0.0535	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.997;0.999;0.999	T	0.00473	-1.1718	10	0.72032	D	0.01	-8.1402	19.7689	0.96353	0.0:1.0:0.0:0.0	.	1243;1238;1243;1243	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	H	1238;1243;1243;1243	ENSP00000263801:R1238H;ENSP00000371475:R1243H;ENSP00000371470:R1243H;ENSP00000393497:R1243H	ENSP00000263801:R1238H	R	-	2	0	TP53BP1	41507606	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.467000	0.60155	2.747000	0.94245	0.650000	0.86243	CGT		0.438	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			46	54	0	0	0	1	0	46	54					T	43720314	C	T	43720314	3	4	435	1	0	0	0	0	1	0	0	0	16380	536	19	1	2249	1	TP53BP1	15	43720314	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26328	43720314	58811078	6484	27409											
TP53BP1	7158	broad.mit.edu	37	chr15	43749072	43749072	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagttgtacttcaccatcCtgtgctggattcatcaggat	8	14	8	11	0	4	0	4	0	0	0	5	2	5	2	2	2	2	3	2	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43749072C>A	ENST00000263801.3	-	12	1971	c.1719G>T	c.(1717-1719)caG>caT	p.Q573H	TP53BP1_ENST00000382044.4_Missense_Mutation_p.Q578H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.Q578H|TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000450115.2_Missense_Mutation_p.Q578H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	573					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			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)		CTTCACCATCCTGTGCTGGAT	0.418								Other conserved DNA damage response genes																														ENST00000263801.3																			0				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						c.(1717-1719)caG>caT	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							175	153	160					15																	43749072		2201	4298	6499	SO:0001583	missense	7158				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	g.chr15:43749072C>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1719G>T	15.37:g.43749072C>A	ENSP00000263801:p.Gln573His					TP53BP1_ENST00000450115.2_Missense_Mutation_p.Q578H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.Q578H|TP53BP1_ENST00000382044.4_Missense_Mutation_p.Q578H	p.Q573H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	12	1971	-		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)	573					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.1719G>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739670	0.30774	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	5.04	-0.543	0.11851	.	0.736359	0.12856	N	0.433502	T	0.57242	0.2040	M	0.70595	2.14	0.09310	N	1	D;P;D;D	0.57899	0.981;0.956;0.974;0.974	P;P;P;P	0.51135	0.635;0.564;0.66;0.66	T	0.52465	-0.8572	10	0.48119	T	0.1	-0.4179	9.8729	0.41187	0.0:0.3749:0.0:0.6251	.	578;573;578;578	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	H	573;578;578;578;578	ENSP00000263801:Q573H;ENSP00000371475:Q578H;ENSP00000371470:Q578H;ENSP00000393497:Q578H;ENSP00000388028:Q578H	ENSP00000263801:Q573H	Q	-	3	2	TP53BP1	41536364	0.181000	0.23161	0.638000	0.29380	0.498000	0.33706	-0.537000	0.06128	-0.052000	0.13311	0.563000	0.77884	CAG		0.418	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			33	54	1	0	1.61788e-16	1	1.77753e-16	33	54					A	43749072	C	A	43749072	3	1	435	1	0	0	0	0	1	0	0	0	16380	680	24	5	4267	5	TP53BP1	15	43749072	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	28758	43749072	58782320	6485	27410											
TP53BP1	7158	broad.mit.edu	37	chr15	43766908	43766908	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgtgggactgctaggaacGataaaaggagtagatcggaa	14	8	14	5	2	1	1	0	0	1	1	2	6	1	5	0	4	2	2	0	4	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43766908G>A	ENST00000263801.3	-	10	1380	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	TP53BP1_ENST00000382044.4_Silent_p.I381I|TP53BP1_ENST00000382039.3_Silent_p.I381I|TP53BP1_ENST00000450115.2_Silent_p.I381I	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	376					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			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)		TGCTAGGAACGATAAAAGGAG	0.423								Other conserved DNA damage response genes																														ENST00000263801.3																			0				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						c.(1126-1128)atC>atT	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							92	94	93					15																	43766908		2201	4298	6499	SO:0001819	synonymous_variant	7158				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	g.chr15:43766908G>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1128C>T	15.37:g.43766908G>A						TP53BP1_ENST00000450115.2_Silent_p.I381I|TP53BP1_ENST00000382039.3_Silent_p.I381I|TP53BP1_ENST00000382044.4_Silent_p.I381I	p.I376I	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	10	1380	-		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)	376					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	c.1128C>T	CCDS10096.1																																																																																				0.423	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			13	19	0	0	0	1	0	13	19					A	43766908	G	A	43766908	2	1	435	1	0	0	0	0	0	0	0	1	16380	1048	37	2		2	TP53BP1	15	43766908	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17836	43766908	58764484	6486	27411											
MAP1A	4130	broad.mit.edu	37	chr15	43814556	43814556	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgttaccctgtggccacGcagaaggacctggcttctgg	6	9	13	13	2	1	1	0	0	1	1	1	2	1	2	3	4	2	3	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43814556G>A	ENST00000300231.5	+	4	1335	c.885G>A	c.(883-885)acG>acA	p.T295T	MAP1A_ENST00000382031.1_Silent_p.T533T|MAP1A_ENST00000399453.1_Silent_p.T295T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	295					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			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)	CTGTGGCCACGCAGAAGGACC	0.537																																						ENST00000382031.1																			0				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						c.(1597-1599)acG>acA		microtubule-associated protein 1A	Estramustine(DB01196)						42	44	44					15																	43814556		1955	4144	6099	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43814556G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.885G>A	15.37:g.43814556G>A						MAP1A_ENST00000399453.1_Silent_p.T295T|MAP1A_ENST00000300231.5_Silent_p.T295T	p.T533T			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	1630	+		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)	295			9 X 3 AA repeats of K-K-[DE].		O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.1599G>A	CCDS42031.1																																																																																				0.537	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		16	20	0	0	0	1	0	16	20					A	43814556	G	A	43814556	2	1	435	1	0	0	0	0	0	0	0	1	9227	1074	38	1		1	MAP1A	15	43814556	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	47648	43814556	58716836	6487	27412											
MAP1A	4130	broad.mit.edu	37	chr15	43817299	43817299	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccagcaaggagacctccCtggatgtctcttctaagcag	9	9	10	13	0	2	1	0	0	2	1	5	3	4	2	3	2	2	2	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43817299C>T	ENST00000300231.5	+	4	4078	c.3628C>T	c.(3628-3630)Ctg>Ttg	p.L1210L	MAP1A_ENST00000382031.1_Silent_p.L1448L|MAP1A_ENST00000399453.1_Silent_p.L1210L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1210					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			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)	GGAGACCTCCCTGGATGTCTC	0.522																																						ENST00000382031.1																			0				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						c.(4342-4344)Ctg>Ttg		microtubule-associated protein 1A	Estramustine(DB01196)						86	89	88					15																	43817299		1918	4123	6041	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43817299C>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3628C>T	15.37:g.43817299C>T						MAP1A_ENST00000399453.1_Silent_p.L1210L|MAP1A_ENST00000300231.5_Silent_p.L1210L	p.L1448L			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	4373	+		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)	1210					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.4342C>T	CCDS42031.1																																																																																				0.522	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		29	40	0	0	0	1	0	29	40					T	43817299	C	T	43817299	2	4	435	1	0	0	0	0	0	0	0	1	9227	680	24	3		3	MAP1A	15	43817299	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2743	43817299	58714093	6488	27413											
MAP1A	4130	broad.mit.edu	37	chr15	43818078	43818078	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctggaacagaaggacaaGgccctggaaccaaaagataa	17	3	11	10	0	0	2	0	0	0	2	0	5	0	5	3	4	2	0	3	4	7	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43818078G>A	ENST00000300231.5	+	4	4857	c.4407G>A	c.(4405-4407)aaG>aaA	p.K1469K	MAP1A_ENST00000382031.1_Silent_p.K1707K|MAP1A_ENST00000399453.1_Silent_p.K1469K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1469					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			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)	AGAAGGACAAGGCCCTGGAAC	0.428																																						ENST00000382031.1																			0				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						c.(5119-5121)aaG>aaA		microtubule-associated protein 1A	Estramustine(DB01196)						90	89	89					15																	43818078		1867	4098	5965	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43818078G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4407G>A	15.37:g.43818078G>A						MAP1A_ENST00000399453.1_Silent_p.K1469K|MAP1A_ENST00000300231.5_Silent_p.K1469K	p.K1707K			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	5152	+		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)	1469					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.5121G>A	CCDS42031.1																																																																																				0.428	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		12	12	0	0	0	1	0	12	12					A	43818078	G	A	43818078	2	1	435	1	0	0	0	0	0	0	0	1	9227	991	35	3		3	MAP1A	15	43818078	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	779	43818078	58713314	6489	27414											
STRC	161497	broad.mit.edu	37	chr15	43910131	43910131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtcagacggcccatcaCgggtgcatgggggccgagtt	8	6	15	12	3	2	1	2	0	0	1	2	2	2	1	2	4	1	2	2	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43910131C>T	ENST00000450892.2	-	2	565	c.488G>A	c.(487-489)cGt>cAt	p.R163H	STRC_ENST00000541030.1_De_novo_Start_OutOfFrame	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	163					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CGGCCCATCACGGGTGCATGG	0.652																																						ENST00000541030.1																			0				skin(4)	4								stereocilin																																				SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43910131C>T	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.488G>A	15.37:g.43910131C>T	ENSP00000401513:p.Arg163His					STRC_ENST00000450892.2_Missense_Mutation_p.R163H				Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	0	563	-		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)							Translation_Start_Site	SNP	ENST00000450892.2	37		CCDS10098.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580594	0.65992	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000456110;ENST00000432436	T	0.78246	-1.16	5.05	4.14	0.48551	.	0.094319	0.45361	D	0.000364	T	0.78162	0.4240	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.78160	-0.2312	10	0.54805	T	0.06	-8.3957	9.3322	0.38030	0.0:0.9009:0.0:0.0991	.	163;163	E9PBT5;Q7RTU9	.;STRC_HUMAN	H	163;163;163;103	ENSP00000401513:R163H	ENSP00000299992:R163H	R	-	2	0	STRC	41697423	0.994000	0.37717	0.979000	0.43373	0.746000	0.42486	2.066000	0.41452	1.138000	0.42230	0.632000	0.83419	CGT		0.652	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		5	71	0	0	0	1	0	5	71					T	43910131	C	T	43910131	3	4	435	1	0	0	0	0	1	0	0	0	15327	536	19	1	4951	1	STRC	15	43910131	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	92053	43910131	58621261	6490	27415											
PDIA3	2923	broad.mit.edu	37	chr15	44063404	44063404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaagaagaaggcacaGgaggatctctaaagcagtag	19	4	13	5	0	1	4	0	0	1	4	2	6	1	6	0	3	1	3	0	3	8	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:44063404G>T	ENST00000300289.5	+	13	1654	c.1506G>T	c.(1504-1506)caG>caT	p.Q502H	ELL3_ENST00000497465.1_5'Flank|PDIA3_ENST00000538521.1_Missense_Mutation_p.Q482H	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	502					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AGAAGGCACAGGAGGATCTCT	0.423																																						ENST00000300289.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17						c.(1504-1506)caG>caT		protein disulfide isomerase family A, member 3							33	32	32					15																	44063404		2186	4291	6477	SO:0001583	missense	2923				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	g.chr15:44063404G>T		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"Protein disulfide isomerases"	4606	protein-coding gene	gene with protein product		602046	"glucose regulated protein, 58kDa", "protein disulfide isomerase-associated 3"	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.1506G>T	15.37:g.44063404G>T	ENSP00000300289:p.Gln502His					PDIA3_ENST00000538521.1_Missense_Mutation_p.Q482H	p.Q502H	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	13	1654	+		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)	502					Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	ENST00000300289.5	37	c.1506G>T	CCDS10101.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924804	0.73213	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000537673;ENST00000538521	T;T	0.04049	3.72;3.83	6.17	5.05	0.67936	.	0.140844	0.64402	D	0.000005	T	0.03220	0.0094	N	0.08118	0	0.42758	D	0.993799	B;B	0.33379	0.25;0.41	B;B	0.31547	0.132;0.094	T	0.56312	-0.8000	10	0.46703	T	0.11	.	12.869	0.57955	0.0973:0.0:0.9027:0.0	.	482;502	G5EA52;P30101	.;PDIA3_HUMAN	H	502;477;276;482	ENSP00000300289:Q502H;ENSP00000438260:Q482H	ENSP00000300289:Q502H	Q	+	3	2	PDIA3	41850696	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.361000	0.44160	1.277000	0.44412	0.655000	0.94253	CAG		0.423	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		26	33	1	0	2.12542e-12	1	2.29988e-12	26	33					T	44063404	G	T	44063404	3	4	435	1	0	0	0	0	1	0	0	0	11669	991	35	5	1556	5	PDIA3	15	44063404	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	153273	44063404	58467988	6491	27416											
MFAP1	4236	broad.mit.edu	37	chr15	44101970	44101970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccatgaagaaggcaccccGgtgataatacttctgtaaga	14	9	9	9	1	1	4	0	2	1	2	1	4	1	4	3	2	2	2	3	2	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:44101970G>A	ENST00000267812.3	-	7	1262	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	344					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			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)		AAGGCACCCCGGTGATAATAC	0.398																																						ENST00000267812.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15						c.(1030-1032)Cgg>Tgg		microfibrillar-associated protein 1							191	189	189					15																	44101970		2198	4298	6496	SO:0001583	missense	4236					microfibril		g.chr15:44101970G>A		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.1030C>T	15.37:g.44101970G>A	ENSP00000267812:p.Arg344Trp						p.R344W	NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	7	1262	-		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)	344					Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	c.1030C>T	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509279	0.64522	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.65	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.84183	0.5416	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86910	0.2060	9	0.87932	D	0	-7.4672	12.8155	0.57663	0.0:0.0:0.5707:0.4293	.	344	P55081	MFAP1_HUMAN	W	344	.	ENSP00000267812:R344W	R	-	1	2	MFAP1	41889262	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.746000	0.55127	0.904000	0.36572	-0.152000	0.13540	CGG		0.398	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		54	89	0	0	0	1	0	54	89					A	44101970	G	A	44101970	3	1	435	1	0	0	0	0	1	0	0	0	9513	1115	39	2	301	2	MFAP1	15	44101970	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38566	44101970	58429422	6492	27417											
MFAP1	4236	broad.mit.edu	37	chr15	44106859	44106859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctcctgtgctcgctgacGcatcatgccacgccgccgct	4	10	9	18	5	2	1	1	1	1	0	5	1	3	1	4	0	2	4	4	0	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:44106859G>A	ENST00000267812.3	-	4	689	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	153					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			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)		GCTCGCTGACGCATCATGCCA	0.453																																						ENST00000267812.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15						c.(457-459)Cgt>Tgt		microfibrillar-associated protein 1							131	128	129					15																	44106859		2198	4298	6496	SO:0001583	missense	4236					microfibril		g.chr15:44106859G>A		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.457C>T	15.37:g.44106859G>A	ENSP00000267812:p.Arg153Cys						p.R153C	NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	4	689	-		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)	153					Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	c.457C>T	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942866	0.73672	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.84320	0.5446	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.85733	0.1332	9	0.87932	D	0	-11.9495	19.9085	0.97016	0.0:0.0:1.0:0.0	.	153	P55081	MFAP1_HUMAN	C	153	.	ENSP00000267812:R153C	R	-	1	0	MFAP1	41894151	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.473000	0.81007	2.873000	0.98535	0.563000	0.77884	CGT		0.453	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		5	38	0	0	0	1	0	5	38					A	44106859	G	A	44106859	3	1	435	1	0	0	0	0	1	0	0	0	9513	1087	38	1	886	1	MFAP1	15	44106859	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4889	44106859	58424533	6493	27418											
MFAP1	4236	broad.mit.edu	37	chr15	44107161	44107161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcatcatcaatttcctcCtcctcttcttcactgctgtc	6	16	2	17	0	6	0	4	0	2	0	10	0	9	0	4	0	1	1	4	0	1	3	rs114234191		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:44107161C>A	ENST00000267812.3	-	3	643	c.411G>T	c.(409-411)gaG>gaT	p.E137D		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	137	Poly-Glu.				extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			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)		CAATTTCCTCCTCCTCTTCTT	0.408																																						ENST00000267812.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15						c.(409-411)gaG>gaT		microfibrillar-associated protein 1							311	301	305					15																	44107161		2198	4298	6496	SO:0001583	missense	4236					microfibril		g.chr15:44107161C>A		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.411G>T	15.37:g.44107161C>A	ENSP00000267812:p.Glu137Asp						p.E137D	NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	3	643	-		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)	137			Poly-Glu.		Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	c.411G>T	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	C	1.686	-0.505365	0.04261	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.77	-1.63	0.08345	.	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	L	0.33339	1.005	0.53688	D	0.999979	B	0.09022	0.002	B	0.08055	0.003	T	0.17167	-1.0378	9	0.13853	T	0.58	-20.6005	11.1799	0.48623	0.0:0.5693:0.0:0.4307	.	137	P55081	MFAP1_HUMAN	D	137	.	ENSP00000267812:E137D	E	-	3	2	MFAP1	41894453	0.330000	0.24705	0.978000	0.43139	0.254000	0.26022	-0.284000	0.08422	-0.233000	0.09797	-1.743000	0.00684	GAG		0.408	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		31	72	1	0	9.65021e-13	1	1.04556e-12	31	72					A	44107161	C	A	44107161	3	1	435	1	0	0	0	0	1	0	0	0	9513	680	24	5	936	5	MFAP1	15	44107161	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	302	44107161	58424231	6494	27419											
WDR76	79968	broad.mit.edu	37	chr15	44149354	44149354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagtattttatcactgccGgattgaggtatggtctttat	9	16	10	6	1	2	1	1	1	1	0	2	3	2	2	1	3	1	2	1	3	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:44149354G>A	ENST00000263795.6	+	10	1472	c.1402G>A	c.(1402-1404)Gga>Aga	p.G468R	WDR76_ENST00000381246.2_Missense_Mutation_p.G404R	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	468										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TATCACTGCCGGATTGAGGTA	0.343																																						ENST00000263795.6																			0				breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20						c.(1402-1404)Gga>Aga		WD repeat domain 76							65	63	63					15																	44149354		2198	4298	6496	SO:0001583	missense	79968							g.chr15:44149354G>A	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"WD repeat domain containing"	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1402G>A	15.37:g.44149354G>A	ENSP00000263795:p.Gly468Arg					WDR76_ENST00000381246.2_Missense_Mutation_p.G404R	p.G468R	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	10	1472	+		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)	468					A0MNP5|Q05CI4	Missense_Mutation	SNP	ENST00000263795.6	37	c.1402G>A	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803977	0.70682	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	T;T	0.69685	-0.42;-0.42	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.053879	0.64402	D	0.000001	D	0.82582	0.5068	M	0.83692	2.655	0.50313	D	0.999869	D	0.89917	1.0	D	0.69307	0.963	D	0.83745	0.0206	10	0.56958	D	0.05	-19.9088	16.7942	0.85597	0.0:0.0:1.0:0.0	.	468	Q9H967	WDR76_HUMAN	R	468;404	ENSP00000263795:G468R;ENSP00000370645:G404R	ENSP00000263795:G468R	G	+	1	0	WDR76	41936646	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	6.823000	0.75282	2.820000	0.97059	0.650000	0.86243	GGA		0.343	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908		20	40	0	0	0	1	0	20	40					A	44149354	G	A	44149354	3	1	435	1	0	0	0	0	1	0	0	0	17323	1117	39	2	1440	2	WDR76	15	44149354	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42193	44149354	58382038	6495	27420											
DUOX2	50506	broad.mit.edu	37	chr15	45391660	45391660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgtagacattgactgCgtggccagcactgtgcaaaa	13	8	12	8	1	0	3	0	1	0	2	0	4	0	3	1	1	3	3	1	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:45391660C>T	ENST00000603300.1	-	26	3638	c.3436G>A	c.(3436-3438)Gca>Aca	p.A1146T	DUOX2_ENST00000389039.6_Missense_Mutation_p.A1146T	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1146	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ACATTGACTGCGTGGCCAGCA	0.537																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(3436-3438)Gca>Aca		dual oxidase 2							78	63	68					15																	45391660		2198	4298	6496	SO:0001583	missense	50506				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	g.chr15:45391660C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3436G>A	15.37:g.45391660C>T	ENSP00000475084:p.Ala1146Thr					DUOX2_ENST00000603300.1_Missense_Mutation_p.A1146T	p.A1146T			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	26	3821	-		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)	1146			Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.3436G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332291	0.41297	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.44	5.44	0.79542	Flavoprotein transmembrane component (1);	0.431830	0.25695	N	0.028918	T	0.25158	0.0611	L	0.31926	0.97	0.09310	N	1	B	0.32203	0.36	B	0.29862	0.108	T	0.20571	-1.0271	9	0.52906	T	0.07	-1.6056	7.0218	0.24918	0.2895:0.63:0.0:0.0806	.	1146	Q9NRD8	DUOX2_HUMAN	T	1146	.	ENSP00000373691:A1146T	A	-	1	0	DUOX2	43178952	0.001000	0.12720	0.336000	0.25522	0.590000	0.36582	0.892000	0.28322	2.561000	0.86390	0.563000	0.77884	GCA		0.537	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		11	10	0	0	0	1	0	11	10					T	45391660	C	T	45391660	3	4	435	1	0	0	0	0	1	0	0	0	4801	768	27	1	1246	1	DUOX2	15	45391660	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1242306	45391660	57139732	6496	27421											
DUOX2	50506	broad.mit.edu	37	chr15	45400384	45400384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcagctctagctgggataGgtcctggttgtacagggcag	8	9	16	8	0	1	0	0	0	1	0	2	2	2	1	1	4	4	6	1	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:45400384G>T	ENST00000603300.1	-	13	1637	c.1435C>A	c.(1435-1437)Cta>Ata	p.L479I	DUOX2_ENST00000389039.6_Missense_Mutation_p.L479I	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	479	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGCTGGGATAGGTCCTGGTTG	0.627																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(1435-1437)Cta>Ata		dual oxidase 2							57	57	57					15																	45400384		2198	4298	6496	SO:0001583	missense	50506				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	g.chr15:45400384G>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1435C>A	15.37:g.45400384G>T	ENSP00000475084:p.Leu479Ile					DUOX2_ENST00000603300.1_Missense_Mutation_p.L479I	p.L479I			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	13	1820	-		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)	479			Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.1435C>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046963	0.36085	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.47	4.55	0.56014	.	0.196259	0.42821	D	0.000646	T	0.29976	0.0750	N	0.20445	0.575	0.35795	D	0.82269	B;P	0.41597	0.047;0.756	B;B	0.42882	0.05;0.401	T	0.29912	-0.9996	9	0.20046	T	0.44	-6.0593	4.6945	0.12797	0.0801:0.1427:0.6088:0.1685	.	479;41	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	I	479	.	ENSP00000373691:L479I	L	-	1	2	DUOX2	43187676	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	1.335000	0.33839	1.309000	0.44985	0.655000	0.94253	CTA		0.627	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		11	27	1	0	3.86212e-05	1	3.97146e-05	11	27					T	45400384	G	T	45400384	3	4	435	1	0	0	0	0	1	0	0	0	4801	991	35	5	3299	5	DUOX2	15	45400384	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8724	45400384	57131008	6497	27422											
DUOX2	50506	broad.mit.edu	37	chr15	45404113	45404113	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaactcggcggggcaaccGggcgtttccacgctcaccac	8	5	13	15	5	1	0	1	0	0	0	3	1	2	1	3	5	2	3	3	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:45404113G>A	ENST00000603300.1	-	5	568	c.366C>T	c.(364-366)ccC>ccT	p.P122P	DUOX2_ENST00000389039.6_Silent_p.P122P|DUOXA2_ENST00000323030.5_5'Flank	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	122	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CGGGGCAACCGGGCGTTTCCA	0.662																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(364-366)ccC>ccT		dual oxidase 2							32	31	31					15																	45404113		2198	4298	6496	SO:0001819	synonymous_variant	50506				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	g.chr15:45404113G>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.366C>T	15.37:g.45404113G>A						DUOX2_ENST00000603300.1_Silent_p.P122P	p.P122P			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	5	751	-		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)	122			Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	c.366C>T	CCDS10117.1																																																																																				0.662	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		6	11	0	0	0	1	0	6	11					A	45404113	G	A	45404113	2	1	435	1	0	0	0	0	0	0	0	1	4801	1103	39	2		2	DUOX2	15	45404113	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3729	45404113	57127279	6498	27423											
DUOX1	53905	broad.mit.edu	37	chr15	45427302	45427302	+	Splice_Site	SNP	G	G	A																															ccctcctgcactgcccgcagGctatcacgtgctttcagacc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:45427302G>A	ENST00000321429.4	+	6	715	c.308G>A	c.(307-309)gGc>gAc	p.G103D	DUOX1_ENST00000389037.3_Splice_Site_p.G103D	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	103	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGCCCGCAGGCTATCACGTG	0.602																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.e6-1		dual oxidase 1							48	48	48					15																	45427302		2198	4298	6496	SO:0001630	splice_region_variant	53905				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	g.chr15:45427302G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.308-1G>A	15.37:g.45427302G>A						DUOX1_ENST00000389037.3_Splice_Site_p.G103_splice	p.G103_splice	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	6	715	+		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)	103			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Splice_Site	SNP	ENST00000321429.4	37	c.307_splice	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472423	0.63737	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.80304	-1.36;-1.36	3.95	3.95	0.45737	.	0.000000	0.85682	D	0.000000	D	0.92397	0.7587	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94470	0.7684	9	.	.	.	.	13.9519	0.64123	0.0:0.0:1.0:0.0	.	103	Q9NRD9	DUOX1_HUMAN	D	103	ENSP00000317997:G103D;ENSP00000373689:G103D	.	G	+	2	0	DUOX1	43214594	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	9.612000	0.98347	2.205000	0.71048	0.644000	0.83932	GGC		0.602	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434	Missense_Mutation	14	18	0	0	0	1	0	14	18					A	45427302	G	A	45427302	5	1	435	1	0	0	0	0	0	0	1	0	4800	1217	42	3	322	3	DUOX1	15	45427302	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23189	45427302	57104090	6499	27424	128	2									
DUOX1	53905	broad.mit.edu	37	chr15	45427310	45427310	+	Missense_Mutation	SNP	G	G	A																															cactgcccgcaggctatcacGtgctttcagacctggtgagc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:45427310G>A	ENST00000321429.4	+	6	723	c.316G>A	c.(316-318)Gtg>Atg	p.V106M	DUOX1_ENST00000389037.3_Missense_Mutation_p.V106M	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	106	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.V106L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGGCTATCACGTGCTTTCAGA	0.622																																						ENST00000321429.4																			1	Substitution - Missense(1)	p.V106L(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(316-318)Gtg>Atg		dual oxidase 1							50	50	50					15																	45427310		2198	4298	6496	SO:0001583	missense	53905				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	g.chr15:45427310G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.316G>A	15.37:g.45427310G>A	ENSP00000317997:p.Val106Met					DUOX1_ENST00000389037.3_Missense_Mutation_p.V106M	p.V106M	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	6	723	+		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)	106			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.316G>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685055	0.47991	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.69561	-0.41;-0.41	3.95	-0.448	0.12230	.	0.284382	0.32819	N	0.005614	T	0.59500	0.2198	L	0.60957	1.885	0.48341	D	0.999631	P	0.47191	0.891	B	0.43194	0.411	T	0.58730	-0.7585	10	0.87932	D	0	-8.2452	8.7039	0.34343	0.0:0.1337:0.4548:0.4116	.	106	Q9NRD9	DUOX1_HUMAN	M	106	ENSP00000317997:V106M;ENSP00000373689:V106M	ENSP00000317997:V106M	V	+	1	0	DUOX1	43214602	1.000000	0.71417	0.971000	0.41717	0.241000	0.25554	2.683000	0.46943	-0.210000	0.10140	-1.532000	0.00920	GTG		0.622	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		11	24	0	0	0	1	0	11	24					A	45427310	G	A	45427310	3	1	435	1	0	0	0	0	1	0	0	0	4800	1145	40	1	330	1	DUOX1	15	45427310	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8	45427310	57104082	6500	27425	128	2									
DUOX1	53905	broad.mit.edu	37	chr15	45455823	45455823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaatgaccaccaggacctgGtgtctgtgcacatctacatc	11	9	9	12	0	2	2	0	1	2	1	3	3	2	3	3	2	2	1	3	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:45455823G>A	ENST00000321429.4	+	33	4749	c.4342G>A	c.(4342-4344)Gtg>Atg	p.V1448M	DUOX1_ENST00000561166.1_Missense_Mutation_p.V1094M|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.V1448M	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1448					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCAGGACCTGGTGTCTGTGCA	0.582											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(4342-4344)Gtg>Atg		dual oxidase 1							153	135	141					15																	45455823		2198	4298	6496	SO:0001583	missense	53905				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	g.chr15:45455823G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4342G>A	15.37:g.45455823G>A	ENSP00000317997:p.Val1448Met		OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	DUOX1_ENST00000389037.3_Missense_Mutation_p.V1448M|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.V1094M	p.V1448M	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	33	4749	+		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)	1448					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.4342G>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243256	0.79912	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.95656	-3.77;-3.77	4.36	4.36	0.52297	Ferric reductase, NAD binding (1);	0.121499	0.53938	D	0.000042	D	0.97114	0.9057	M	0.71206	2.165	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.97631	1.0142	10	0.87932	D	0	-23.5556	14.4383	0.67298	0.0:0.0:1.0:0.0	.	1448	Q9NRD9	DUOX1_HUMAN	M	1448	ENSP00000317997:V1448M;ENSP00000373689:V1448M	ENSP00000317997:V1448M	V	+	1	0	DUOX1	43243115	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.759000	0.85235	2.243000	0.73865	0.491000	0.48974	GTG		0.582	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		31	37	0	0	0	1	0	31	37					A	45455823	G	A	45455823	3	1	435	1	0	0	0	0	1	0	0	0	4800	1261	44	3	4464	3	DUOX1	15	45455823	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28513	45455823	57075569	6501	27426											
SPATA5L1	79029	broad.mit.edu	37	chr15	45706807	45706807	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaattcccttgggaatttgtTagaatgggcctgacacaacc	12	11	9	9	0	0	2	0	1	0	1	1	3	1	3	3	2	1	1	3	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:45706807T>C	ENST00000305560.6	+	4	1572	c.1473T>C	c.(1471-1473)gtT>gtC	p.V491V	SPATA5L1_ENST00000559860.1_Silent_p.V491V	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	491						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			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)		GGGAATTTGTTAGAATGGGCC	0.453																																						ENST00000305560.6																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1471-1473)gtT>gtC		spermatogenesis associated 5-like 1							68	67	67					15																	45706807		2198	4298	6496	SO:0001819	synonymous_variant	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45706807T>C	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"ATPases / AAA-type"	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.1473T>C	15.37:g.45706807T>C						SPATA5L1_ENST00000559860.1_Silent_p.V491V	p.V491V	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	4	1572	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	491					C9JHR5|Q9H8W7|Q9HA41	Silent	SNP	ENST00000305560.6	37	c.1473T>C	CCDS10123.1																																																																																				0.453	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		17	20	0	0	0	1	0	17	20					C	45706807	T	C	45706807	2	2	435	1	0	0	0	0	0	0	0	1	15011	1741	61	4		4	SPATA5L1	15	45706807	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	250984	45706807	56824585	6502	27427											
FBN1	2200	broad.mit.edu	37	chr15	48829912	48829912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccaggctcggccgactgtgGcacagcagagcgtttttgtg	6	9	14	12	3	0	1	0	0	0	1	1	2	0	1	2	3	2	4	2	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:48829912G>A	ENST00000316623.5	-	7	1087	c.632C>T	c.(631-633)gCc>gTc	p.A211V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	211	TB 1.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			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)		GCCGACTGTGGCACAGCAGAG	0.572																																						ENST00000316623.5																			0				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						c.(631-633)gCc>gTc		fibrillin 1							77	78	77					15																	48829912		2197	4296	6493	SO:0001583	missense	2200				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	g.chr15:48829912G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.632C>T	15.37:g.48829912G>A	ENSP00000325527:p.Ala211Val						p.A211V	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	7	1087	-		all_lung(180;0.00279)	211			TB 1.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.632C>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	35	5.584317	0.96578	.	.	ENSG00000166147	ENST00000316623	D	0.93307	-3.2	5.44	5.44	0.79542	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	D	0.000000	D	0.96476	0.8850	M	0.71581	2.175	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.96424	0.9314	10	0.72032	D	0.01	.	19.4586	0.94906	0.0:0.0:1.0:0.0	.	211	P35555	FBN1_HUMAN	V	211	ENSP00000325527:A211V	ENSP00000325527:A211V	A	-	2	0	FBN1	46617204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.828000	0.97474	0.655000	0.94253	GCC		0.572	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			26	43	0	0	0	1	0	26	43					A	48829912	G	A	48829912	3	1	435	1	0	0	0	0	1	0	0	0	5702	1203	42	3	8223	3	FBN1	15	48829912	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3123105	48829912	53701480	6503	27428											
HDC	3067	broad.mit.edu	37	chr15	50546791	50546791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcagcatcgggctcagacGttttcatttccaggattttg	8	14	9	10	2	3	1	3	0	0	1	5	2	4	2	1	2	1	3	1	2	0	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:50546791G>A	ENST00000267845.3	-	5	914	c.512C>T	c.(511-513)aCg>aTg	p.T171M	HDC_ENST00000543581.1_Missense_Mutation_p.T171M	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				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)		GGGCTCAGACGTTTTCATTTC	0.552																																					GBM(95;1627 1936 6910 9570)	ENST00000267845.3																			0				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						c.(511-513)aCg>aTg		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						106	96	99					15																	50546791		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50546791G>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.512C>T	15.37:g.50546791G>A	ENSP00000267845:p.Thr171Met					HDC_ENST00000543581.1_Missense_Mutation_p.T171M	p.T171M	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	5	914	-		all_lung(180;0.0138)	171						Missense_Mutation	SNP	ENST00000267845.3	37	c.512C>T	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	G	7.793	0.712008	0.15306	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.38401	1.14;1.14	5.79	-6.07	0.02158	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.244700	0.05238	N	0.511660	T	0.21186	0.0510	L	0.31752	0.955	0.09310	N	1	B;B	0.28667	0.219;0.002	B;B	0.32149	0.141;0.013	T	0.32134	-0.9918	10	0.59425	D	0.04	4.1908	0.2415	0.00193	0.3499:0.1744:0.2153:0.2603	.	171;171	B7ZM01;P19113	.;DCHS_HUMAN	M	171	ENSP00000267845:T171M;ENSP00000440252:T171M	ENSP00000267845:T171M	T	-	2	0	HDC	48334083	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.307000	0.08167	-0.710000	0.05001	-1.779000	0.00650	ACG		0.552	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			10	25	0	0	0	1	0	10	25					A	50546791	G	A	50546791	3	1	435	1	0	0	0	0	1	0	0	0	7015	1145	40	1	1508	1	HDC	15	50546791	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1716879	50546791	51984601	6504	27429											
TRPM7	54822	broad.mit.edu	37	chr15	50902042	50902042	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgttctgaaagttgttttcGctgtcatccattgtcatctg	7	18	8	8	1	4	1	2	1	2	0	6	1	5	1	1	0	0	4	1	0	1	5	rs373177540		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:50902042G>A	ENST00000313478.7	-	18	2678	c.2397C>T	c.(2395-2397)agC>agT	p.S799S	TRPM7_ENST00000560955.1_Silent_p.S799S	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	799					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AGTTGTTTTCGCTGTCATCCA	0.353																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(2395-2397)agC>agT		transient receptor potential cation channel, subfamily M, member 7							173	151	158					15																	50902042		1853	4097	5950	SO:0001819	synonymous_variant	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50902042G>A	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2397C>T	15.37:g.50902042G>A						TRPM7_ENST00000560955.1_Silent_p.S799S	p.S799S	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	18	2678	-			799					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Silent	SNP	ENST00000313478.7	37	c.2397C>T	CCDS42035.1																																																																																				0.353	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		23	47	0	0	0	1	0	23	47					A	50902042	G	A	50902042	2	1	435	1	0	0	0	0	0	0	0	1	16588	1078	38	1		1	TRPM7	15	50902042	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	355251	50902042	51629350	6505	27430											
SPPL2A	84888	broad.mit.edu	37	chr15	51039785	51039785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tataatcaaagttaggccacGatggagaatacattttcaca	16	11	7	7	1	2	1	2	0	0	1	2	3	2	1	1	2	1	1	1	2	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:51039785G>A	ENST00000261854.5	-	5	765	c.491C>T	c.(490-492)tCg>tTg	p.S164L	RP11-507J18.2_ENST00000558317.1_RNA	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	164					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)	p.S164L(2)		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)		GTTAGGCCACGATGGAGAATA	0.353																																					Melanoma(50;790 1209 4069 22965 33125)	ENST00000261854.5																			2	Substitution - Missense(2)	p.S164L(2)	stomach(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(490-492)tCg>tTg		signal peptide peptidase like 2A							104	101	102					15																	51039785		2196	4293	6489	SO:0001583	missense	84888					integral to membrane	aspartic-type endopeptidase activity	g.chr15:51039785G>A		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"intramembrane protease 3", "presenilin-like protein 2"	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.491C>T	15.37:g.51039785G>A	ENSP00000261854:p.Ser164Leu					RP11-507J18.2_ENST00000558317.1_RNA	p.S164L	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	5	765	-			164					B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000261854.5	37	c.491C>T	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	G	8.626	0.892552	0.17613	.	.	ENSG00000138600	ENST00000261854	T	0.11604	2.76	5.61	2.68	0.31781	.	0.583941	0.18590	N	0.136753	T	0.05914	0.0154	N	0.14661	0.345	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.40739	-0.9547	10	0.24483	T	0.36	1.502	8.3593	0.32348	0.1397:0.129:0.7312:0.0	.	164	Q8TCT8	PSL2_HUMAN	L	164	ENSP00000261854:S164L	ENSP00000261854:S164L	S	-	2	0	AC012100.1	48827077	0.009000	0.17119	0.000000	0.03702	0.332000	0.28634	1.624000	0.37018	0.299000	0.22661	0.655000	0.94253	TCG		0.353	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		49	63	0	0	0	1	0	49	63					A	51039785	G	A	51039785	3	1	435	1	0	0	0	0	1	0	0	0	15087	1059	37	2	1115	2	SPPL2A	15	51039785	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	137743	51039785	51491607	6506	27431											
AP4E1	23431	broad.mit.edu	37	chr15	51289742	51289742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcagaacttttggattctGagtcactcacagaactgccc	10	12	7	12	0	4	3	3	1	1	2	4	4	4	4	1	1	3	0	1	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:51289742G>A	ENST00000261842.5	+	18	2672	c.2566G>A	c.(2566-2568)Gag>Aag	p.E856K	AP4E1_ENST00000560508.1_Missense_Mutation_p.E781K	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	856					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				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)		TTTGGATTCTGAGTCACTCAC	0.358																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(2566-2568)Gag>Aag		adaptor-related protein complex 4, epsilon 1 subunit							112	111	112					15																	51289742		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51289742G>A	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2566G>A	15.37:g.51289742G>A	ENSP00000261842:p.Glu856Lys					AP4E1_ENST00000560508.1_Missense_Mutation_p.E781K	p.E856K	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	18	2672	+			856					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.2566G>A	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939051	0.34189	.	.	ENSG00000081014	ENST00000261842	T	0.19105	2.17	5.47	3.61	0.41365	.	0.753542	0.12698	N	0.446618	T	0.13286	0.0322	N	0.19112	0.55	0.42364	D	0.992424	B	0.12630	0.006	B	0.06405	0.002	T	0.06789	-1.0807	10	0.37606	T	0.19	-3.9941	7.8227	0.29296	0.1527:0.1428:0.7044:0.0	.	856	Q9UPM8	AP4E1_HUMAN	K	856	ENSP00000261842:E856K	ENSP00000261842:E856K	E	+	1	0	AP4E1	49077034	1.000000	0.71417	0.927000	0.36925	0.656000	0.38851	2.702000	0.47102	0.687000	0.31509	-0.363000	0.07495	GAG		0.358	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			38	41	0	0	0	1	0	38	41					A	51289742	G	A	51289742	3	1	435	1	0	0	0	0	1	0	0	0	752	1291	45	3	2636	3	AP4E1	15	51289742	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	249957	51289742	51241650	6507	27432											
GLDN	342035	broad.mit.edu	37	chr15	51696718	51696718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaatccaaggctggcaacGccttcattgcccgaggaatc	11	8	9	13	2	1	0	1	0	0	0	3	2	2	1	3	3	2	2	3	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:51696718G>A	ENST00000335449.6	+	10	1479	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	GLDN_ENST00000396399.2_Missense_Mutation_p.A351T	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	475	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A475T(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGCTGGCAACGCCTTCATTGC	0.473																																						ENST00000335449.6																			1	Substitution - Missense(1)	p.A475T(1)	large_intestine(1)	central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1423-1425)Gcc>Acc		gliomedin							173	151	159					15																	51696718		2196	4293	6489	SO:0001583	missense	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51696718G>A	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1423G>A	15.37:g.51696718G>A	ENSP00000335196:p.Ala475Thr					GLDN_ENST00000396399.2_Missense_Mutation_p.A351T	p.A475T	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	10	1479	+			475			Olfactomedin-like.		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	c.1423G>A	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	G	32	5.157675	0.94686	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.91843	-2.92;-2.92	5.8	5.8	0.92144	Olfactomedin-like (3);	0.000000	0.43110	D	0.000613	D	0.96131	0.8739	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95923	0.8932	10	0.72032	D	0.01	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	475	Q6ZMI3	GLDN_HUMAN	T	475;351;351	ENSP00000335196:A475T;ENSP00000379681:A351T	ENSP00000335196:A475T	A	+	1	0	GLDN	49484010	1.000000	0.71417	0.978000	0.43139	0.881000	0.50899	9.476000	0.97823	2.758000	0.94735	0.563000	0.77884	GCC		0.473	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		35	61	0	0	0	1	0	35	61					A	51696718	G	A	51696718	3	1	435	1	0	0	0	0	1	0	0	0	6434	1087	38	1	1461	1	GLDN	15	51696718	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	406976	51696718	50834674	6508	27433											
DMXL2	23312	broad.mit.edu	37	chr15	51795013	51795013	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccttacctgctgaaggCgttgctcttattacttcaac	8	14	8	11	1	2	2	1	2	1	0	2	2	2	2	2	1	5	3	2	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:51795013C>T	ENST00000251076.5	-	17	3269	c.2982G>A	c.(2980-2982)acG>acA	p.T994T	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Silent_p.T994T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	994						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			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)		CTGCTGAAGGCGTTGCTCTTA	0.398																																						ENST00000251076.5																			0				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						c.(2980-2982)acG>acA		Dmx-like 2							106	103	104					15																	51795013		2195	4293	6488	SO:0001819	synonymous_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51795013C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2982G>A	15.37:g.51795013C>T						DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Silent_p.T994T	p.T994T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	17	3269	-			994					B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	c.2982G>A	CCDS10141.1																																																																																				0.398	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		21	54	0	0	0	1	0	21	54					T	51795013	C	T	51795013	2	4	435	1	0	0	0	0	0	0	0	1	4595	755	27	1		1	DMXL2	15	51795013	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	98295	51795013	50736379	6509	27434											
TMOD3	29766	broad.mit.edu	37	chr15	52186107	52186107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagaactaaagaaaacgatGctcatcttgttgaagttaat	17	11	8	5	1	2	3	1	1	1	2	2	5	2	3	0	0	3	3	0	0	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:52186107G>A	ENST00000308580.7	+	6	873	c.592G>A	c.(592-594)Gct>Act	p.A198T	RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Missense_Mutation_p.A198T	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	198						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		AGAAAACGATGCTCATCTTGT	0.373																																					Colon(122;1837 2251 18387 22826)	ENST00000308580.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14						c.(592-594)Gct>Act		tropomodulin 3 (ubiquitous)							136	134	134					15																	52186107		2195	4293	6488	SO:0001583	missense	29766					cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52186107G>A	AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.592G>A	15.37:g.52186107G>A	ENSP00000308753:p.Ala198Thr					RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Missense_Mutation_p.A198T	p.A198T	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN		all cancers(107;0.00194)	6	873	+			198					B2R6G7|Q9NT43|Q9NZR0	Missense_Mutation	SNP	ENST00000308580.7	37	c.592G>A	CCDS10145.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521786	0.44866	.	.	ENSG00000138594	ENST00000308580;ENST00000544199	D;D	0.91843	-2.92;-2.92	4.93	2.71	0.32032	.	0.404947	0.28001	N	0.016996	T	0.75228	0.3821	N	0.02412	-0.56	0.23298	N	0.997956	B	0.02656	0.0	B	0.04013	0.001	T	0.64149	-0.6475	10	0.42905	T	0.14	-0.7721	2.4818	0.04589	0.0956:0.2433:0.4055:0.2555	.	198	Q9NYL9	TMOD3_HUMAN	T	198	ENSP00000308753:A198T;ENSP00000438909:A198T	ENSP00000308753:A198T	A	+	1	0	TMOD3	49973399	0.939000	0.31865	0.775000	0.31657	0.968000	0.65278	0.575000	0.23729	1.178000	0.42870	0.591000	0.81541	GCT		0.373	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254740.3			32	53	0	0	0	1	0	32	53					A	52186107	G	A	52186107	3	1	435	1	0	0	0	0	1	0	0	0	16232	1319	46	3	610	3	TMOD3	15	52186107	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	391094	52186107	50345285	6510	27435											
MYO5A	4644	broad.mit.edu	37	chr15	52632448	52632448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaggctggcctcaatgcggGcctctgggggcagctgcagg	5	6	18	12	1	2	0	1	0	1	0	2	0	2	0	2	6	3	5	2	6	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:52632448G>A	ENST00000399231.3	-	32	4427	c.4184C>T	c.(4183-4185)gCc>gTc	p.A1395V	MYO5A_ENST00000399233.2_Missense_Mutation_p.A1392V|MYO5A_ENST00000356338.6_Missense_Mutation_p.A1368V|MYO5A_ENST00000553916.1_Missense_Mutation_p.A1368V|MYO5A_ENST00000358212.6_Missense_Mutation_p.A1395V	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1395					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			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)		CTCAATGCGGGCCTCTGGGGG	0.622																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(4183-4185)gCc>gTc		myosin VA (heavy chain 12, myoxin)							58	62	61					15																	52632448		1921	4111	6032	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52632448G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4184C>T	15.37:g.52632448G>A	ENSP00000382177:p.Ala1395Val					MYO5A_ENST00000356338.6_Missense_Mutation_p.A1368V|MYO5A_ENST00000358212.6_Missense_Mutation_p.A1395V|MYO5A_ENST00000399233.2_Missense_Mutation_p.A1392V|MYO5A_ENST00000553916.1_Missense_Mutation_p.A1368V	p.A1395V	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	32	4427	-			1395					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.4184C>T	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	35	5.582022	0.96578	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916;ENST00000399228	T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	M	0.72576	2.205	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.609;1.0	D;D;D;B;D	0.91635	0.999;0.999;0.999;0.168;0.997	T	0.52351	-0.8587	10	0.32370	T	0.25	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	125;185;188;1395;1368	B5LY56;Q9UES5;O95317;Q9Y4I1;Q9Y4I1-2	.;.;.;MYO5A_HUMAN;.	V	1395;902;1392;1368;1395;998;1368;185	ENSP00000382177:A1395V;ENSP00000382179:A1392V;ENSP00000348693:A1368V;ENSP00000350945:A1395V;ENSP00000451109:A1368V;ENSP00000382174:A185V	ENSP00000348693:A1368V	A	-	2	0	MYO5A	50419740	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.509000	0.81698	2.941000	0.99782	0.655000	0.94253	GCC		0.622	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		10	59	0	0	0	1	0	10	59					A	52632448	G	A	52632448	3	1	435	1	0	0	0	0	1	0	0	0	10078	1203	42	3	1423	3	MYO5A	15	52632448	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	446341	52632448	49898944	6511	27436											
MYO5A	4644	broad.mit.edu	37	chr15	52664539	52664539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcgcttctgaatgatgaCtgctttgtgctcacggagta	8	13	11	9	2	2	3	1	3	1	0	3	5	2	4	0	1	2	4	0	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:52664539C>T	ENST00000399231.3	-	21	2842	c.2599G>A	c.(2599-2601)Gtc>Atc	p.V867I	MYO5A_ENST00000399233.2_Missense_Mutation_p.V867I|MYO5A_ENST00000356338.6_Missense_Mutation_p.V867I|MYO5A_ENST00000553916.1_Missense_Mutation_p.V867I|MYO5A_ENST00000358212.6_Missense_Mutation_p.V867I	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	867	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			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)		TGAATGATGACTGCTTTGTGC	0.502																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(2599-2601)Gtc>Atc		myosin VA (heavy chain 12, myoxin)							42	40	41					15																	52664539		2036	4186	6222	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52664539C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2599G>A	15.37:g.52664539C>T	ENSP00000382177:p.Val867Ile					MYO5A_ENST00000356338.6_Missense_Mutation_p.V867I|MYO5A_ENST00000358212.6_Missense_Mutation_p.V867I|MYO5A_ENST00000399233.2_Missense_Mutation_p.V867I|MYO5A_ENST00000553916.1_Missense_Mutation_p.V867I	p.V867I	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	21	2842	-			867			IQ 5.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.2599G>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246900	0.39697	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.77	1.8	0.24995	.	0.380172	0.30085	N	0.010444	T	0.12050	0.0293	L	0.28694	0.88	0.36184	D	0.849618	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.22730	-1.0208	10	0.07325	T	0.83	.	10.0768	0.42366	0.0:0.5593:0.0:0.4407	.	867;867	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	I	867;401;867;867;867;497;867	ENSP00000382177:V867I;ENSP00000382179:V867I;ENSP00000348693:V867I;ENSP00000350945:V867I;ENSP00000451109:V867I	ENSP00000348693:V867I	V	-	1	0	MYO5A	50451831	0.055000	0.20627	0.995000	0.50966	0.998000	0.95712	0.544000	0.23253	0.469000	0.27268	0.650000	0.86243	GTC		0.502	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		7	32	0	0	0	1	0	7	32					T	52664539	C	T	52664539	3	4	435	1	0	0	0	0	1	0	0	0	10078	565	20	3	3052	3	MYO5A	15	52664539	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32091	52664539	49866853	6512	27437											
KIAA1370	56204	broad.mit.edu	37	chr15	52903327	52903327	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttggccctagacatacCtgtagagaatatttcgtgga	10	15	9	7	1	0	2	0	0	0	2	1	4	0	3	2	2	1	1	2	2	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:52903327C>A	ENST00000261844.7	-	5	682	c.530G>T	c.(529-531)aGa>aTa	p.R177I	FAM214A_ENST00000546305.2_Splice_Site_p.R184I	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	177																	CTAGACATACCTGTAGAGAAT	0.408																																						ENST00000261844.7																			0											c.e5+1		family with sequence similarity 214, member A							117	114	115					15																	52903327		1860	4099	5959	SO:0001630	splice_region_variant	56204							g.chr15:52903327C>A	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.530+1G>T	15.37:g.52903327C>A						FAM214A_ENST00000546305.2_Splice_Site_p.R184_splice	p.R177_splice	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			5	682	-			177					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Splice_Site	SNP	ENST00000261844.7	37	c.530_splice	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	C	36	5.712732	0.96830	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.50277	0.75;0.75	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.61436	-0.7063	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	184;177	F5H8G0;Q32MH5	.;K1370_HUMAN	I	177;177;176;184	ENSP00000261844:R177I;ENSP00000443598:R184I	.	R	-	2	0	KIAA1370	50690619	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	AGA		0.408	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600	Missense_Mutation	6	81	1	0	0.0293803	1	0.0295506	6	81					A	52903327	C	A	52903327	5	1	435	1	0	0	0	0	0	0	1	0	8226	695	24	5	2736	5	KIAA1370	15	52903327	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	238788	52903327	49628065	6513	27438											
ONECUT1	3175	broad.mit.edu	37	chr15	53081569	53081569	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcccatgccggccacGtccttgtggtagggggtata	5	10	14	12	2	1	0	0	0	1	0	2	0	2	0	4	5	1	2	4	5	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:53081569G>A	ENST00000305901.5	-	1	640	c.513C>T	c.(511-513)gaC>gaT	p.D171D	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	171					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TGCCGGCCACGTCCTTGTGGT	0.667																																						ENST00000305901.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(511-513)gaC>gaT		one cut homeobox 1							50	64	59					15																	53081569		2193	4292	6485	SO:0001819	synonymous_variant	3175				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	g.chr15:53081569G>A	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"Homeoboxes / CUT class"	8138	protein-coding gene	gene with protein product		604164	"one cut domain, family member 1"	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.513C>T	15.37:g.53081569G>A						ONECUT1_ENST00000561401.2_Intron	p.D171D	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	640	-			171					B2RTV4|Q99744|Q9UMR6	Silent	SNP	ENST00000305901.5	37	c.513C>T	CCDS10150.1																																																																																				0.667	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			4	54	0	0	0	1	0	4	54					A	53081569	G	A	53081569	2	1	435	1	0	0	0	0	0	0	0	1	10868	1136	40	1		1	ONECUT1	15	53081569	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	178242	53081569	49449823	6514	27439											
WDR72	256764	broad.mit.edu	37	chr15	53908404	53908404	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtcttcacaggcaagaCattaaaaggtcttgggcaaa	13	12	9	7	0	3	1	1	0	2	1	3	1	3	1	0	3	0	2	0	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:53908404C>A	ENST00000396328.1	-	15	2238	c.1999G>T	c.(1999-2001)Gtc>Ttc	p.V667F	WDR72_ENST00000557913.1_Missense_Mutation_p.V664F|WDR72_ENST00000559418.1_Missense_Mutation_p.V677F|WDR72_ENST00000360509.5_Missense_Mutation_p.V667F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	667										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)		ACAGGCAAGACATTAAAAGGT	0.343																																						ENST00000396328.1																			0				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						c.(1999-2001)Gtc>Ttc		WD repeat domain 72							58	56	56					15																	53908404		2193	4292	6485	SO:0001583	missense	256764							g.chr15:53908404C>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1999G>T	15.37:g.53908404C>A	ENSP00000379619:p.Val667Phe					WDR72_ENST00000557913.1_Missense_Mutation_p.V664F|WDR72_ENST00000360509.5_Missense_Mutation_p.V667F|WDR72_ENST00000559418.1_Missense_Mutation_p.V677F	p.V667F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2238	-			667					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.1999G>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324421	0.41197	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.51817	0.69;0.69	5.23	3.09	0.35607	.	0.090825	0.46442	D	0.000288	T	0.54838	0.1883	L	0.36672	1.1	0.37303	D	0.908763	D	0.89917	1.0	D	0.87578	0.998	T	0.59215	-0.7496	10	0.87932	D	0	.	8.9162	0.35583	0.0:0.7158:0.0:0.2842	.	667	Q3MJ13	WDR72_HUMAN	F	667	ENSP00000379619:V667F;ENSP00000353699:V667F	ENSP00000353699:V667F	V	-	1	0	WDR72	51695696	0.285000	0.24296	0.421000	0.26609	0.471000	0.32888	1.148000	0.31614	0.417000	0.25871	0.313000	0.20887	GTC		0.343	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		24	36	1	0	8.58068e-18	1	9.45481e-18	24	36					A	53908404	C	A	53908404	3	1	435	1	0	0	0	0	1	0	0	0	17319	478	17	5	1333	5	WDR72	15	53908404	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	826835	53908404	48622988	6515	27440											
WDR72	256764	broad.mit.edu	37	chr15	53998136	53998136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttacctctaggagaacCatcaaacttggatacaggaa	15	9	8	9	0	2	2	1	1	1	1	2	5	2	4	2	3	4	0	2	3	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:53998136C>T	ENST00000396328.1	-	10	1329	c.1090G>A	c.(1090-1092)Ggt>Agt	p.G364S	WDR72_ENST00000557913.1_Missense_Mutation_p.G361S|WDR72_ENST00000559418.1_Missense_Mutation_p.G374S|WDR72_ENST00000360509.5_Missense_Mutation_p.G364S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	364										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)		CTAGGAGAACCATCAAACTTG	0.383																																						ENST00000396328.1																			0				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						c.(1090-1092)Ggt>Agt		WD repeat domain 72							100	98	99					15																	53998136		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53998136C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1090G>A	15.37:g.53998136C>T	ENSP00000379619:p.Gly364Ser					WDR72_ENST00000557913.1_Missense_Mutation_p.G361S|WDR72_ENST00000360509.5_Missense_Mutation_p.G364S|WDR72_ENST00000559418.1_Missense_Mutation_p.G374S	p.G364S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	10	1329	-			364					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.1090G>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458120	0.84317	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.79033	-1.23;-1.23	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87140	0.6103	M	0.70595	2.14	0.50039	D	0.999843	D	0.89917	1.0	D	0.91635	0.999	T	0.83253	-0.0052	10	0.22109	T	0.4	.	18.9709	0.92715	0.0:1.0:0.0:0.0	.	364	Q3MJ13	WDR72_HUMAN	S	364	ENSP00000379619:G364S;ENSP00000353699:G364S	ENSP00000353699:G364S	G	-	1	0	WDR72	51785428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.045000	0.71020	2.728000	0.93425	0.655000	0.94253	GGT		0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		21	30	0	0	0	1	0	21	30					T	53998136	C	T	53998136	3	4	435	1	0	0	0	0	1	0	0	0	17319	594	21	3	2262	3	WDR72	15	53998136	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	89732	53998136	48533256	6516	27441											
WDR72	256764	broad.mit.edu	37	chr15	53998224	53998224	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtaccttgtaaaaaggCtctttcctttcattcatgta	13	15	5	8	0	3	0	2	0	1	0	4	0	4	0	2	1	1	4	2	1	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:53998224C>T	ENST00000396328.1	-	10	1241	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E	WDR72_ENST00000557913.1_Silent_p.E331E|WDR72_ENST00000559418.1_Silent_p.E344E|WDR72_ENST00000360509.5_Silent_p.E334E	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	334										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)		TGTAAAAAGGCTCTTTCCTTT	0.403																																						ENST00000396328.1																			0				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						c.(1000-1002)gaG>gaA		WD repeat domain 72							107	107	107					15																	53998224		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:53998224C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1002G>A	15.37:g.53998224C>T						WDR72_ENST00000557913.1_Silent_p.E331E|WDR72_ENST00000360509.5_Silent_p.E334E|WDR72_ENST00000559418.1_Silent_p.E344E	p.E334E	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	10	1241	-			334					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.1002G>A	CCDS10151.1																																																																																				0.403	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		10	40	0	0	0	1	0	10	40					T	53998224	C	T	53998224	2	4	435	1	0	0	0	0	0	0	0	1	17319	796	28	3		3	WDR72	15	53998224	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	88	53998224	48533168	6517	27442											
UNC13C	440279	broad.mit.edu	37	chr15	54305717	54305717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttaagcaccatgaaaaaatCctggggaataagaagtaagt	18	8	10	5	0	0	2	0	1	0	1	1	3	1	3	2	2	1	3	2	2	8	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:54305717C>T	ENST00000260323.11	+	1	617	c.617C>T	c.(616-618)tCc>tTc	p.S206F	UNC13C_ENST00000545554.1_Missense_Mutation_p.S206F|UNC13C_ENST00000537900.1_Missense_Mutation_p.S206F	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	206					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			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)		ATGAAAAAATCCTGGGGAATA	0.438																																						ENST00000545554.1																			0				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						c.(616-618)tCc>tTc		unc-13 homolog C (C. elegans)							92	91	91					15																	54305717		1842	4086	5928	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305717C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.617C>T	15.37:g.54305717C>T	ENSP00000260323:p.Ser206Phe					UNC13C_ENST00000260323.11_Missense_Mutation_p.S206F|UNC13C_ENST00000537900.1_Missense_Mutation_p.S206F	p.S206F			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	617	+			206					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.617C>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591632	0.46214	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79653	-1.29;-1.29;-1.29	4.97	4.97	0.65823	.	.	.	.	.	T	0.72036	0.3411	N	0.14661	0.345	0.35912	D	0.831165	B	0.22480	0.07	B	0.31016	0.123	T	0.75712	-0.3222	9	0.87932	D	0	.	17.243	0.87019	0.0:1.0:0.0:0.0	.	206	Q8NB66	UN13C_HUMAN	F	206	ENSP00000260323:S206F;ENSP00000438156:S206F;ENSP00000442569:S206F	ENSP00000260323:S206F	S	+	2	0	UNC13C	52093009	1.000000	0.71417	0.991000	0.47740	0.661000	0.39034	6.029000	0.70895	2.281000	0.76405	0.650000	0.86243	TCC		0.438	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		35	59	0	0	0	1	0	35	59					T	54305717	C	T	54305717	3	4	435	1	0	0	0	0	1	0	0	0	16983	855	30	3	619	3	UNC13C	15	54305717	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	307493	54305717	48225675	6518	27443											
UNC13C	440279	broad.mit.edu	37	chr15	54542540	54542540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctactgttatgagtgtgaaGggctcctgtggggcattgca	7	12	14	8	0	0	2	0	2	0	0	1	2	1	2	2	3	2	4	2	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:54542540G>T	ENST00000260323.11	+	7	3346	c.3346G>T	c.(3346-3348)Ggg>Tgg	p.G1116W	UNC13C_ENST00000545554.1_Missense_Mutation_p.G1116W|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1114W	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1116					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			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)		TGAGTGTGAAGGGCTCCTGTG	0.517																																						ENST00000545554.1																			0				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						c.(3346-3348)Ggg>Tgg		unc-13 homolog C (C. elegans)							102	100	101					15																	54542540		2132	4275	6407	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54542540G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3346G>T	15.37:g.54542540G>T	ENSP00000260323:p.Gly1116Trp					UNC13C_ENST00000260323.11_Missense_Mutation_p.G1116W|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1114W	p.G1116W			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	7	3346	+			1116					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3346G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535530	0.85812	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.92911	-3.13;-3.13;-3.13	5.42	5.42	0.78866	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.111748	0.64402	D	0.000011	D	0.96806	0.8957	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.97470	1.0040	10	0.87932	D	0	.	18.2085	0.89863	0.0:0.0:1.0:0.0	.	1116	Q8NB66	UN13C_HUMAN	W	1116;1116;1114	ENSP00000260323:G1116W;ENSP00000438156:G1116W;ENSP00000442569:G1114W	ENSP00000260323:G1116W	G	+	1	0	UNC13C	52329832	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.856000	0.99531	2.538000	0.85594	0.650000	0.86243	GGG		0.517	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		13	25	1	0	0.00010058	1	0.000103117	13	25					T	54542540	G	T	54542540	3	4	435	1	0	0	0	0	1	0	0	0	16983	1000	35	5	3368	5	UNC13C	15	54542540	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	236823	54542540	47988852	6519	27444											
UNC13C	440279	broad.mit.edu	37	chr15	54786925	54786925	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaggatgctgttcctgaaTactccttgtaagtagtgatt	10	15	9	7	0	1	2	1	2	0	0	3	3	3	3	2	1	2	4	2	1	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:54786925T>C	ENST00000260323.11	+	19	5053	c.5053T>C	c.(5053-5055)Tac>Cac	p.Y1685H	UNC13C_ENST00000545554.1_Missense_Mutation_p.Y1685H|UNC13C_ENST00000537900.1_Missense_Mutation_p.Y1683H	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1685	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			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)		TGTTCCTGAATACTCCTTGTA	0.353																																						ENST00000545554.1																			0				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						c.(5053-5055)Tac>Cac		unc-13 homolog C (C. elegans)							181	173	175					15																	54786925		1856	4099	5955	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54786925T>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5053T>C	15.37:g.54786925T>C	ENSP00000260323:p.Tyr1685His					UNC13C_ENST00000260323.11_Missense_Mutation_p.Y1685H|UNC13C_ENST00000537900.1_Missense_Mutation_p.Y1683H	p.Y1685H			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	19	5053	+			1685			MHD1.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.5053T>C	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.881120	0.72294	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;D;T	0.81499	-1.49;-1.5;-1.49	5.87	5.87	0.94306	Munc13 homology 1 (1);	0.123221	0.56097	D	0.000026	D	0.91181	0.7222	M	0.88310	2.945	0.58432	D	0.999995	D	0.76494	0.999	D	0.83275	0.996	D	0.92555	0.6053	10	0.72032	D	0.01	.	15.7569	0.78037	0.0:0.0:0.0:1.0	.	1685	Q8NB66	UN13C_HUMAN	H	1685;1685;1683	ENSP00000260323:Y1685H;ENSP00000438156:Y1685H;ENSP00000442569:Y1683H	ENSP00000260323:Y1685H	Y	+	1	0	UNC13C	52574217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.371000	0.80710	0.533000	0.62120	TAC		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		42	53	0	0	0	1	0	42	53					C	54786925	T	C	54786925	3	2	435	1	0	0	0	0	1	0	0	0	16983	1406	49	4	5123	4	UNC13C	15	54786925	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	244385	54786925	47744467	6520	27445											
CCPG1	9236	broad.mit.edu	37	chr15	55669190	55669190	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggctgctagaggaagaGcccatgttaaagtcttctga	11	11	11	8	0	2	3	0	1	2	2	2	4	2	4	1	2	3	3	1	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:55669190G>A	ENST00000310958.6	-	5	709	c.411C>T	c.(409-411)ggC>ggT	p.G137G	CCPG1_ENST00000442196.3_Silent_p.G137G|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Silent_p.G137G|CCPG1_ENST00000425574.3_Silent_p.G137G	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	137	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TAGAGGAAGAGCCCATGTTAA	0.383																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(409-411)ggC>ggT		cell cycle progression 1							91	88	89					15																	55669190		1833	4079	5912	SO:0001819	synonymous_variant	9236				cell cycle	integral to membrane		g.chr15:55669190G>A	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.411C>T	15.37:g.55669190G>A						CCPG1_ENST00000569205.1_Silent_p.G137G|CCPG1_ENST00000442196.3_Silent_p.G137G|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Silent_p.G137G	p.G137G	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	5	709	-			137			Interaction with MCF2L and SRC (By similarity).		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Silent	SNP	ENST00000310958.6	37	c.411C>T	CCDS42039.1																																																																																				0.383	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		34	42	0	0	0	1	0	34	42					A	55669190	G	A	55669190	2	1	435	1	0	0	0	0	0	0	0	1	2938	958	34	3		3	CCPG1	15	55669190	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	882265	55669190	46862202	6521	27446											
DYX1C1	161582	broad.mit.edu	37	chr15	55727180	55727180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccggttcaaatacaatagtgGcatcttattatttagtctta	12	16	6	7	1	3	0	1	0	2	0	3	0	3	0	1	2	1	2	1	2	8	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:55727180G>A	ENST00000321149.3	-	8	1337	c.970C>T	c.(970-972)Cca>Tca	p.P324S	DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Missense_Mutation_p.P324S|DYX1C1_ENST00000457155.2_Missense_Mutation_p.P324S|DYX1C1_ENST00000448430.2_Missense_Mutation_p.P324S|DYX1C1_ENST00000380679.1_Missense_Mutation_p.P324S	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	324					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			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)		TACAATAGTGGCATCTTATTA	0.333																																						ENST00000321149.3																			0				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						c.(970-972)Cca>Tca		dyslexia susceptibility 1 candidate 1							110	112	111					15																	55727180		2191	4289	6480	SO:0001583	missense	161582				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	g.chr15:55727180G>A		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"Tetratricopeptide (TTC) repeat domain containing"	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.970C>T	15.37:g.55727180G>A	ENSP00000323275:p.Pro324Ser					DYX1C1_ENST00000380679.1_Missense_Mutation_p.P324S|DYX1C1_ENST00000448430.2_Missense_Mutation_p.P324S|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000457155.2_Missense_Mutation_p.P324S|DYX1C1_ENST00000348518.3_Missense_Mutation_p.P324S	p.P324S	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	8	1337	-			324					Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	c.970C>T	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660871	0.47572	.	.	ENSG00000256061	ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.29	5.29	0.74685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.063428	0.64402	U	0.000005	T	0.66577	0.2803	N	0.16016	0.355	0.58432	D	0.999999	D;P;D	0.89917	0.996;0.898;1.0	D;P;D	0.87578	0.966;0.896;0.998	T	0.69518	-0.5124	10	0.44086	T	0.13	.	18.271	0.90068	0.0:0.0:1.0:0.0	.	324;324;324	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	S	324	ENSP00000403412:P324S;ENSP00000370054:P324S;ENSP00000402640:P324S;ENSP00000323275:P324S;ENSP00000299561:P324S	ENSP00000323275:P324S	P	-	1	0	DYX1C1	53514472	1.000000	0.71417	0.396000	0.26296	0.178000	0.23041	8.536000	0.90627	2.622000	0.88805	0.563000	0.77884	CCA		0.333	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		44	50	0	0	0	1	0	44	50					A	55727180	G	A	55727180	3	1	435	1	0	0	0	0	1	0	0	0	4862	1203	42	3	407	3	DYX1C1	15	55727180	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	57990	55727180	46804212	6522	27447											
PYGO1	26108	broad.mit.edu	37	chr15	55838292	55838292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taactggacatctttgtcagCcatacaggtatcacagcccc	11	10	7	13	0	3	0	2	0	1	0	3	1	3	1	3	2	4	1	3	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:55838292C>T	ENST00000302000.6	-	3	1283	c.1189G>A	c.(1189-1191)Gct>Act	p.A397T	PYGO1_ENST00000563719.1_Missense_Mutation_p.A397T	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	397					hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TCTTTGTCAGCCATACAGGTA	0.428																																						ENST00000302000.6																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(1189-1191)Gct>Act		pygopus family PHD finger 1							115	100	105					15																	55838292		2193	4292	6485	SO:0001583	missense	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55838292C>T	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"Zinc fingers, PHD-type"	30256	protein-coding gene	gene with protein product		606902	"pygopus homolog 1 (Drosophila)"			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.1189G>A	15.37:g.55838292C>T	ENSP00000302327:p.Ala397Thr					PYGO1_ENST00000563719.1_Missense_Mutation_p.A397T	p.A397T	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	3	1283	-			397					A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	c.1189G>A	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571882	0.65765	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	D	0.84660	-1.88	5.39	5.39	0.77823	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.067509	0.64402	D	0.000014	D	0.88625	0.6487	L	0.38175	1.15	0.43924	D	0.996572	D;D	0.71674	0.998;0.995	D;D	0.69307	0.963;0.946	D	0.87914	0.2699	10	0.40728	T	0.16	-15.326	18.1679	0.89734	0.0:1.0:0.0:0.0	.	397;397	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	T	397	ENSP00000302327:A397T	ENSP00000302327:A397T	A	-	1	0	PYGO1	53625584	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.392000	0.52537	2.524000	0.85096	0.591000	0.81541	GCT		0.428	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		10	39	0	0	0	1	0	10	39					T	55838292	C	T	55838292	3	4	435	1	0	0	0	0	1	0	0	0	12863	739	26	3	74	3	PYGO1	15	55838292	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	111112	55838292	46693100	6523	27448											
PRTG	283659	broad.mit.edu	37	chr15	55930778	55930778	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtagaatggtagactacaggGctccaaggactggaaagctg	13	7	14	7	0	0	2	0	0	0	2	1	4	1	4	1	4	2	4	1	4	6	3	rs541283255		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:55930778G>A	ENST00000389286.4	-	14	2468	c.2421C>T	c.(2419-2421)agC>agT	p.S807S		NM_173814.4	NP_776175.2			protogenin											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)		AGACTACAGGGCTCCAAGGAC	0.353													G|||	1	0.000199681	0	0.0014	5008	,	,		15116	0		0	False		,,,				2504	0					ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(2419-2421)agC>agT		protogenin							60	57	58					15																	55930778		1844	4091	5935	SO:0001819	synonymous_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55930778G>A	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2421C>T	15.37:g.55930778G>A							p.S807S	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	14	2468	-			807			Fibronectin type-III 4.			Silent	SNP	ENST00000389286.4	37	c.2421C>T	CCDS42040.1																																																																																				0.353	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		15	23	0	0	0	1	0	15	23					A	55930778	G	A	55930778	2	1	435	1	0	0	0	0	0	0	0	1	12638	1194	42	3		3	PRTG	15	55930778	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	92486	55930778	46600614	6524	27449											
PRTG	283659	broad.mit.edu	37	chr15	55930826	55930826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtaatcgaacggcaaattcGtatttggtgtttggttctag	9	16	11	5	3	1	0	0	0	1	0	3	1	1	0	0	3	1	5	0	3	5	7	rs200941187		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:55930826G>A	ENST00000389286.4	-	14	2420	c.2373C>T	c.(2371-2373)taC>taT	p.Y791Y		NM_173814.4	NP_776175.2			protogenin											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)		CGGCAAATTCGTATTTGGTGT	0.393													A|||	1	0.000199681	8e-04	0	5008	,	,		14931	0		0	False		,,,				2504	0					ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(2371-2373)taC>taT		protogenin		A		1,3717		0,1,1858	67	66	66		2373	-5	0.7	15		66	0,8216		0,0,4108	no	coding-synonymous	PRTG	NM_173814.4		0,1,5966	AA,AG,GG		0.0,0.0269,0.0084		791/1151	55930826	1,11933	1859	4108	5967	SO:0001819	synonymous_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55930826G>A	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2373C>T	15.37:g.55930826G>A							p.Y791Y	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	14	2420	-			791			Fibronectin type-III 4.			Silent	SNP	ENST00000389286.4	37	c.2373C>T	CCDS42040.1																																																																																				0.393	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		15	33	0	0	0	1	0	15	33					A	55930826	G	A	55930826	2	1	435	1	0	0	0	0	0	0	0	1	12638	1140	40	1		1	PRTG	15	55930826	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	48	55930826	46600566	6525	27450											
PRTG	283659	broad.mit.edu	37	chr15	55970053	55970053	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtctgaattataaagtggCctctcccaggctaaaagaat	13	12	8	8	0	2	2	0	1	2	1	3	2	2	2	2	2	0	1	2	2	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:55970053C>T	ENST00000389286.4	-	8	1370	c.1323G>A	c.(1321-1323)agG>agA	p.R441R	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											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)		TATAAAGTGGCCTCTCCCAGG	0.423																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(1321-1323)agG>agA		protogenin							127	120	122					15																	55970053		1868	4104	5972	SO:0001819	synonymous_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55970053C>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1323G>A	15.37:g.55970053C>T							p.R441R	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	8	1370	-			441			Fibronectin type-III 1.			Silent	SNP	ENST00000389286.4	37	c.1323G>A	CCDS42040.1																																																																																				0.423	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		23	30	0	0	0	1	0	23	30					T	55970053	C	T	55970053	2	4	435	1	0	0	0	0	0	0	0	1	12638	738	26	3		3	PRTG	15	55970053	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	39227	55970053	46561339	6526	27451											
RFX7	64864	broad.mit.edu	37	chr15	56388088	56388088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgattattgcctgttgacGtgcctggcagcatttcatta	7	17	9	8	1	1	2	1	2	0	0	1	2	1	2	2	1	3	3	2	1	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:56388088G>A	ENST00000559447.2	-	9	1818	c.1547C>T	c.(1546-1548)aCg>aTg	p.T516M	RFX7_ENST00000423270.1_Missense_Mutation_p.T613M|RFX7_ENST00000422057.1_Missense_Mutation_p.T516M|RFX7_ENST00000317318.6_Missense_Mutation_p.T613M			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	516					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCCTGTTGACGTGCCTGGCAG	0.418																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1837-1839)aCg>aTg		regulatory factor X, 7							101	95	97					15																	56388088		1986	4166	6152	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56388088G>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1547C>T	15.37:g.56388088G>A	ENSP00000453281:p.Thr516Met					RFX7_ENST00000317318.6_Missense_Mutation_p.T613M|RFX7_ENST00000559447.2_Missense_Mutation_p.T516M|RFX7_ENST00000422057.1_Missense_Mutation_p.T516M	p.T613M	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	1837	-			516					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.1838C>T		.	.	.	.	.	.	.	.	.	.	G	11.88	1.769353	0.31320	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.53206	0.64;0.63;0.63	5.09	4.16	0.48862	.	0.483859	0.21149	N	0.079347	T	0.23846	0.0577	N	0.08118	0	0.30649	N	0.755647	B;P	0.36027	0.173;0.533	B;B	0.20767	0.031;0.031	T	0.17930	-1.0353	10	0.62326	D	0.03	-1.1381	11.7369	0.51769	0.0872:0.0:0.9128:0.0	.	516;516	Q2KHR2;C9JU50	RFX7_HUMAN;.	M	516;613;613	ENSP00000387504:T516M;ENSP00000313299:T613M;ENSP00000397644:T613M	ENSP00000313299:T613M	T	-	2	0	RFX7	54175380	0.964000	0.33143	0.910000	0.35882	0.955000	0.61496	1.863000	0.39459	1.086000	0.41228	0.655000	0.94253	ACG		0.418	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		10	19	0	0	0	1	0	10	19					A	56388088	G	A	56388088	3	1	435	1	0	0	0	0	1	0	0	0	13268	1145	40	1	2548	1	RFX7	15	56388088	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	418035	56388088	46143304	6527	27452											
CGNL1	84952	broad.mit.edu	37	chr15	57730747	57730747	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgacagaagaaggcatcAacaataagaagccttggact	16	7	10	8	1	1	4	1	1	0	3	1	5	1	5	1	2	2	2	1	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:57730747A>G	ENST00000281282.5	+	2	628	c.550A>G	c.(550-552)Aac>Gac	p.N184D		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	184	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGAAGGCATCAACAATAAGAA	0.453																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(550-552)Aac>Gac		cingulin-like 1							103	105	105					15																	57730747		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57730747A>G	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.550A>G	15.37:g.57730747A>G	ENSP00000281282:p.Asn184Asp						p.N184D	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	628	+			184			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.550A>G	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	A	3.826	-0.036745	0.07497	.	.	ENSG00000128849	ENST00000281282	T	0.06294	3.32	4.98	1.37	0.22104	.	0.373697	0.22792	N	0.055595	T	0.04363	0.0120	L	0.33485	1.01	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37126	-0.9719	10	0.52906	T	0.07	-9.8615	2.4159	0.04436	0.6082:0.1284:0.14:0.1234	.	184	Q0VF96	CGNL1_HUMAN	D	184	ENSP00000281282:N184D	ENSP00000281282:N184D	N	+	1	0	CGNL1	55518039	0.002000	0.14202	0.000000	0.03702	0.052000	0.14988	0.535000	0.23114	0.062000	0.16340	0.528000	0.53228	AAC		0.453	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		69	72	0	0	0	1	0	69	72					G	57730747	A	G	57730747	3	3	435	1	0	0	0	0	1	0	0	0	3304	130	5	4	552	4	CGNL1	15	57730747	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1342659	57730747	44800645	6528	27453											
CGNL1	84952	broad.mit.edu	37	chr15	57730821	57730821	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtccctccttggaagacccGgccaaatctggtgtgacagc	9	8	11	13	1	1	2	0	1	1	1	3	3	3	3	4	3	1	0	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:57730821G>A	ENST00000281282.5	+	2	702	c.624G>A	c.(622-624)ccG>ccA	p.P208P		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	208	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGGAAGACCCGGCCAAATCTG	0.488																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(622-624)ccG>ccA		cingulin-like 1							134	136	135					15																	57730821		2192	4292	6484	SO:0001819	synonymous_variant	84952					myosin complex|tight junction	motor activity	g.chr15:57730821G>A	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.624G>A	15.37:g.57730821G>A							p.P208P	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	702	+			208			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	ENST00000281282.5	37	c.624G>A	CCDS10161.1																																																																																				0.488	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		52	107	0	0	0	1	0	52	107					A	57730821	G	A	57730821	2	1	435	1	0	0	0	0	0	0	0	1	3304	1103	39	2		2	CGNL1	15	57730821	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	74	57730821	44800571	6529	27454											
CGNL1	84952	broad.mit.edu	37	chr15	57809088	57809088	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaagctgcagggaagaagCgaagagctggagcggagagt	14	3	19	5	2	0	4	0	0	0	4	0	9	0	6	0	3	5	3	0	3	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:57809088C>T	ENST00000281282.5	+	9	2592	c.2514C>T	c.(2512-2514)agC>agT	p.S838S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	838						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGGGAAGAAGCGAAGAGCTGG	0.552																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(2512-2514)agC>agT		cingulin-like 1							68	62	64					15																	57809088		2192	4292	6484	SO:0001819	synonymous_variant	84952					myosin complex|tight junction	motor activity	g.chr15:57809088C>T	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2514C>T	15.37:g.57809088C>T							p.S838S	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	9	2592	+			838					Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	ENST00000281282.5	37	c.2514C>T	CCDS10161.1																																																																																				0.552	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		10	11	0	0	0	1	0	10	11					T	57809088	C	T	57809088	2	4	435	1	0	0	0	0	0	0	0	1	3304	767	27	1		1	CGNL1	15	57809088	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	78267	57809088	44722304	6530	27455											
ALDH1A2	8854	broad.mit.edu	37	chr15	58287286	58287286	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacactcactgggatgatcTgtccacacactccaatgggt	11	10	8	12	0	2	1	1	1	1	0	4	2	4	2	2	2	1	0	2	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:58287286T>C	ENST00000249750.4	-	5	1312	c.545A>G	c.(544-546)cAg>cGg	p.Q182R	ALDH1A2_ENST00000559517.1_Missense_Mutation_p.Q86R|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.Q161R|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.Q153R|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.Q182R	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	182					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TGGGATGATCTGTCCACACAC	0.393																																						ENST00000249750.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(544-546)cAg>cGg		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						164	155	158					15																	58287286		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58287286T>C	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"Aldehyde dehydrogenases"	15472	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 2"	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.545A>G	15.37:g.58287286T>C	ENSP00000249750:p.Gln182Arg					ALDH1A2_ENST00000558231.1_Missense_Mutation_p.Q153R|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.Q161R|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.Q182R|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.Q86R	p.Q182R	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	5	1312	-			182					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.545A>G	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077783	0.76528	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.15952	2.38;2.38;2.38	5.65	5.65	0.86999	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.43166	0.1235	M	0.78049	2.395	0.54753	D	0.999985	D;D;D;D	0.63880	0.993;0.991;0.99;0.989	D;P;P;D	0.65874	0.925;0.877;0.844;0.939	T	0.40079	-0.9582	10	0.87932	D	0	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	153;161;182;182	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	R	182;86;153;182;161	ENSP00000249750:Q182R;ENSP00000309623:Q182R;ENSP00000438296:Q161R	ENSP00000249750:Q182R	Q	-	2	0	ALDH1A2	56074578	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.720000	0.68470	2.371000	0.80710	0.533000	0.62120	CAG		0.393	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			36	51	0	0	0	1	0	36	51					C	58287286	T	C	58287286	3	2	435	1	0	0	0	0	1	0	0	0	491	1580	55	4	1047	4	ALDH1A2	15	58287286	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	478198	58287286	44244106	6531	27456											
AQP9	366	broad.mit.edu	37	chr15	58430862	58430862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctctgagttcttgggcaCgttcatcttgattgtaagta	7	16	9	9	1	4	2	1	2	3	0	5	2	4	2	1	1	0	5	1	1	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:58430862C>T	ENST00000219919.4	+	1	468	c.98C>T	c.(97-99)aCg>aTg	p.T33M	AQP9_ENST00000559443.1_3'UTR|AQP9_ENST00000558772.1_Intron|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.T33M	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	33					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TTCTTGGGCACGTTCATCTTG	0.458																																						ENST00000219919.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21						c.(97-99)aCg>aTg		aquaporin 9							136	138	137					15																	58430862		2192	4292	6484	SO:0001583	missense	366				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	g.chr15:58430862C>T	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"Ion channels / Aquaporins"	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.98C>T	15.37:g.58430862C>T	ENSP00000219919:p.Thr33Met					AQP9_ENST00000558772.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.T33M|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000559443.1_3'UTR	p.T33M	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	1	468	+			33					Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.98C>T	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974708	0.53720	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	T;T	0.27256	1.68;1.68	5.98	5.98	0.97165	Aquaporin-like (2);	0.246210	0.36002	N	0.002853	T	0.57519	0.2059	M	0.92880	3.355	0.58432	D	0.999995	D	0.58970	0.984	P	0.60236	0.871	T	0.64630	-0.6362	10	0.51188	T	0.08	.	15.9562	0.79889	0.0:1.0:0.0:0.0	.	33	O43315	AQP9_HUMAN	M	33	ENSP00000219919:T33M;ENSP00000441390:T33M	ENSP00000219919:T33M	T	+	2	0	AQP9	56218154	0.995000	0.38212	0.972000	0.41901	0.171000	0.22731	4.218000	0.58554	2.843000	0.97960	0.650000	0.86243	ACG		0.458	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		24	46	0	0	0	1	0	24	46					T	58430862	C	T	58430862	3	4	435	1	0	0	0	0	1	0	0	0	833	536	19	1	100	1	AQP9	15	58430862	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	143576	58430862	44100530	6532	27457											
LIPC	3990	broad.mit.edu	37	chr15	58830636	58830636	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaatcagggctgtcagattCgaatcaatcatccggacacg	12	8	9	12	3	4	1	4	0	0	1	6	3	5	2	2	2	0	1	2	2	3	1	rs369262181		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:58830636C>T	ENST00000356113.6	+	4	808	c.193C>T	c.(193-195)Cga>Tga	p.R65*	LIPC_ENST00000433326.2_Nonsense_Mutation_p.R65*|LIPC_ENST00000299022.5_Nonsense_Mutation_p.R65*|LIPC_ENST00000414170.3_Nonsense_Mutation_p.R65*			P11150	LIPC_HUMAN	lipase, hepatic	65					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.R65*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CTGTCAGATTCGAATCAATCA	0.488													C|||	1	0.000199681	0	0.0014	5008	,	,		19074	0		0	False		,,,				2504	0					ENST00000414170.3																			1	Substitution - Nonsense(1)	p.R65*(1)	large_intestine(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(193-195)Cga>Tga		lipase, hepatic		C	stop/ARG	1,4383	2.1+/-5.4	0,1,2191	197	185	189		193	2	0	15		189	0,8584		0,0,4292	no	stop-gained	LIPC	NM_000236.2		0,1,6483	TT,TC,CC		0.0,0.0228,0.0077		65/500	58830636	1,12967	2192	4292	6484	SO:0001587	stop_gained	3990				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	g.chr15:58830636C>T		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.193C>T	15.37:g.58830636C>T	ENSP00000348425:p.Arg65*					LIPC_ENST00000433326.2_Nonsense_Mutation_p.R65*|LIPC_ENST00000356113.6_Nonsense_Mutation_p.R65*|LIPC_ENST00000299022.5_Nonsense_Mutation_p.R65*	p.R65*			P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	3	480	+		Colorectal(260;0.215)	65					A2RUB4|A8K9B6|O43571|P78529|Q99465	Nonsense_Mutation	SNP	ENST00000356113.6	37	c.193C>T	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665692	0.67700	2.28E-4	0.0	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	.	.	.	5.08	2.02	0.26589	.	1.063170	0.07265	N	0.868025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	3.7187	0.08448	0.1388:0.5763:0.1274:0.1575	.	.	.	.	X	65	.	ENSP00000299022:R65X	R	+	1	2	LIPC	56617928	0.001000	0.12720	0.029000	0.17559	0.105000	0.19272	0.650000	0.24858	0.253000	0.21552	0.514000	0.50259	CGA		0.488	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			53	74	0	0	0	1	0	53	74					T	58830636	C	T	58830636	4	4	435	1	0	0	0	0	0	1	0	0	8820	876	31	2	199	2	LIPC	15	58830636	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	399774	58830636	43700756	6533	27458											
LIPC	3990	broad.mit.edu	37	chr15	58834094	58834094	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggatcaccctggcccacgaCcactacaccatcgccgtccg	8	6	8	19	4	1	0	1	0	0	0	3	2	2	1	6	2	1	0	6	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:58834094C>T	ENST00000356113.6	+	5	999	c.384C>T	c.(382-384)gaC>gaT	p.D128D	LIPC_ENST00000433326.2_Intron|LIPC_ENST00000299022.5_Silent_p.D128D|LIPC_ENST00000414170.3_Silent_p.D128D			P11150	LIPC_HUMAN	lipase, hepatic	128					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TGGCCCACGACCACTACACCA	0.642																																						ENST00000414170.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(382-384)gaC>gaT		lipase, hepatic							54	47	49					15																	58834094		2192	4292	6484	SO:0001819	synonymous_variant	3990				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	g.chr15:58834094C>T		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.384C>T	15.37:g.58834094C>T						LIPC_ENST00000433326.2_Intron|LIPC_ENST00000356113.6_Silent_p.D128D|LIPC_ENST00000299022.5_Silent_p.D128D	p.D128D			P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	4	671	+		Colorectal(260;0.215)	128					A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	ENST00000356113.6	37	c.384C>T	CCDS10166.1																																																																																				0.642	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			7	18	0	0	0	1	0	7	18					T	58834094	C	T	58834094	2	4	435	1	0	0	0	0	0	0	0	1	8820	506	18	3		3	LIPC	15	58834094	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3458	58834094	43697298	6534	27459											
FAM63B	54629	broad.mit.edu	37	chr15	59146739	59146739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaatctgggaatagtgaacGtaaacggaaggaaccacgag	17	5	12	7	3	1	1	0	1	1	0	1	5	1	4	1	3	3	1	1	3	8	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:59146739G>A	ENST00000559228.1	+	9	1878	c.1796G>A	c.(1795-1797)cGt>cAt	p.R599H	FAM63B_ENST00000450403.2_Missense_Mutation_p.R598H|RP11-30K9.5_ENST00000558042.1_RNA			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	599										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AATAGTGAACGTAAACGGAAG	0.378																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1795-1797)cGt>cAt		family with sequence similarity 63, member B							60	57	58					15																	59146739		1849	4096	5945	SO:0001583	missense	54629							g.chr15:59146739G>A	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1796G>A	15.37:g.59146739G>A	ENSP00000452885:p.Arg599His					FAM63B_ENST00000450403.2_Missense_Mutation_p.R598H	p.R599H			Q8NBR6	FA63B_HUMAN			9	1878	+			599					B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	37	c.1796G>A	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629505	0.87660	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.51574	0.7	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	L	0.27053	0.805	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.52253	-0.8600	10	0.32370	T	0.25	-23.996	19.4074	0.94653	0.0:0.0:1.0:0.0	.	599;598	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	H	599;598	ENSP00000393231:R598H	ENSP00000326194:R599H	R	+	2	0	FAM63B	56934031	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.251000	0.72441	2.831000	0.97527	0.650000	0.86243	CGT		0.378	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		20	32	0	0	0	1	0	20	32					A	59146739	G	A	59146739	3	1	435	1	0	0	0	0	1	0	0	0	5597	1145	40	1	1830	1	FAM63B	15	59146739	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	312645	59146739	43384653	6535	27460											
SLTM	79811	broad.mit.edu	37	chr15	59191688	59191688	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctttgcttgaccagaggcCccagtagacgagggcccttt	7	10	11	13	1	1	3	0	1	1	2	1	4	1	3	4	2	1	2	4	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:59191688C>T	ENST00000380516.2	-	7	1125	c.1038G>A	c.(1036-1038)ggG>ggA	p.G346G	SLTM_ENST00000536328.1_Intron|SLTM_ENST00000557950.1_5'Flank	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	346					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GACCAGAGGCCCCAGTAGACG	0.443																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1036-1038)ggG>ggA		SAFB-like, transcription modulator							76	82	80					15																	59191688		2192	4292	6484	SO:0001819	synonymous_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59191688C>T	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1038G>A	15.37:g.59191688C>T						SLTM_ENST00000536328.1_Intron	p.G346G	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			7	1125	-			346					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000380516.2	37	c.1038G>A	CCDS10168.2																																																																																				0.443	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		18	30	0	0	0	1	0	18	30					T	59191688	C	T	59191688	2	4	435	1	0	0	0	0	0	0	0	1	14754	610	22	3		3	SLTM	15	59191688	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44949	59191688	43339704	6536	27461											
SLTM	79811	broad.mit.edu	37	chr15	59209144	59209144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacactttaccttgataaaaGcatcatcttccacagaagca	16	10	4	11	0	2	2	1	1	1	1	3	2	3	2	2	0	4	2	2	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:59209144G>A	ENST00000380516.2	-	3	392	c.305C>T	c.(304-306)gCt>gTt	p.A102V	SLTM_ENST00000536328.1_5'UTR|SLTM_ENST00000557950.1_5'UTR	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	102					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTGATAAAAGCATCATCTTC	0.338																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(304-306)gCt>gTt		SAFB-like, transcription modulator							111	99	103					15																	59209144		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59209144G>A	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.305C>T	15.37:g.59209144G>A	ENSP00000369887:p.Ala102Val					SLTM_ENST00000557950.1_5'UTR|SLTM_ENST00000536328.1_5'UTR	p.A102V	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			3	392	-			102					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.305C>T	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557560	0.45590	.	.	ENSG00000137776	ENST00000380516;ENST00000249736	T;T	0.12569	2.67;2.67	6.03	3.16	0.36331	.	1.126930	0.06737	N	0.777736	T	0.12987	0.0315	L	0.36672	1.1	0.80722	D	1	B;B	0.20052	0.041;0.0	B;B	0.19391	0.025;0.0	T	0.06643	-1.0815	10	0.87932	D	0	.	6.1277	0.20187	0.1402:0.0:0.7058:0.154	.	102;102	C9IZZ3;Q9NWH9	.;SLTM_HUMAN	V	102	ENSP00000369887:A102V;ENSP00000249736:A102V	ENSP00000249736:A102V	A	-	2	0	SLTM	56996436	1.000000	0.71417	0.979000	0.43373	0.965000	0.64279	5.407000	0.66363	0.444000	0.26612	-0.169000	0.13324	GCT		0.338	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		12	28	0	0	0	1	0	12	28					A	59209144	G	A	59209144	3	1	435	1	0	0	0	0	1	0	0	0	14754	971	34	3	2875	3	SLTM	15	59209144	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17456	59209144	43322248	6537	27462											
RNF111	54778	broad.mit.edu	37	chr15	59377913	59377913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttatacacctggtgcattgCatcctcacttggcccattat	8	14	6	13	0	1	0	1	0	0	0	2	0	2	0	3	2	3	2	3	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:59377913C>T	ENST00000557998.1	+	10	2766	c.2479C>T	c.(2479-2481)Cat>Tat	p.H827Y	RNF111_ENST00000561186.1_Missense_Mutation_p.H836Y|RNF111_ENST00000559209.1_Missense_Mutation_p.H836Y|RNF111_ENST00000348370.4_Missense_Mutation_p.H827Y|RNF111_ENST00000434298.1_Missense_Mutation_p.H836Y	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	827					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			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)		TGGTGCATTGCATCCTCACTT	0.418																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			0				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						c.(2479-2481)Cat>Tat		ring finger protein 111							157	130	139					15																	59377913		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59377913C>T	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2479C>T	15.37:g.59377913C>T	ENSP00000452732:p.His827Tyr					RNF111_ENST00000561186.1_Missense_Mutation_p.H836Y|RNF111_ENST00000434298.1_Missense_Mutation_p.H836Y|RNF111_ENST00000559209.1_Missense_Mutation_p.H836Y|RNF111_ENST00000557998.1_Missense_Mutation_p.H827Y	p.H827Y	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	10	2912	+			827					C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.2479C>T	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760437	0.89932	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.17854	2.27;2.25	5.27	5.27	0.74061	.	0.048624	0.85682	D	0.000000	T	0.26702	0.0653	L	0.51422	1.61	0.80722	D	1	D;P;P	0.52996	0.957;0.911;0.946	P;B;B	0.50270	0.636;0.247;0.429	T	0.00619	-1.1641	10	0.27785	T	0.31	-6.8346	18.233	0.89939	0.0:1.0:0.0:0.0	.	836;827;827	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	Y	827;836	ENSP00000288199:H827Y;ENSP00000393641:H836Y	ENSP00000288199:H827Y	H	+	1	0	RNF111	57165205	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	6.548000	0.73896	2.610000	0.88304	0.655000	0.94253	CAT		0.418	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		4	87	0	0	0	1	0	4	87					T	59377913	C	T	59377913	3	4	435	1	0	0	0	0	1	0	0	0	13425	710	25	3	2513	3	RNF111	15	59377913	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	168769	59377913	43153479	6538	27463											
FAM81A	145773	broad.mit.edu	37	chr15	59808970	59808970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaggagaagatgcacGggcgaatcaccaagctggag	16	3	15	7	2	1	4	1	0	0	4	1	7	1	5	1	3	2	2	1	3	5	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:59808970G>T	ENST00000288228.5	+	8	1100	c.913G>T	c.(913-915)Ggg>Tgg	p.G305W		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	305										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						GAAGATGCACGGGCGAATCAC	0.463																																						ENST00000288228.5																			0				endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(913-915)Ggg>Tgg		family with sequence similarity 81, member A							106	103	104					15																	59808970		1977	4157	6134	SO:0001583	missense	145773							g.chr15:59808970G>T		CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.913G>T	15.37:g.59808970G>T	ENSP00000288228:p.Gly305Trp						p.G305W	NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN			8	1100	+			305						Missense_Mutation	SNP	ENST00000288228.5	37	c.913G>T	CCDS45269.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364389	0.61513	.	.	ENSG00000157470	ENST00000288228	T	0.74315	-0.83	5.65	5.65	0.86999	.	0.275562	0.31872	N	0.006934	T	0.65933	0.2739	N	0.08118	0	0.36378	D	0.861717	D	0.60160	0.987	P	0.54460	0.753	T	0.74380	-0.3684	10	0.62326	D	0.03	-29.1442	11.0837	0.48074	0.0847:0.0:0.9153:0.0	.	305	Q8TBF8	FA81A_HUMAN	W	305	ENSP00000288228:G305W	ENSP00000288228:G305W	G	+	1	0	FAM81A	57596262	0.997000	0.39634	0.994000	0.49952	0.785000	0.44390	2.785000	0.47782	2.827000	0.97445	0.650000	0.86243	GGG		0.463	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415876.1	NM_152450		4	7	1	0	0.00909568	1	0.00918626	4	7					T	59808970	G	T	59808970	3	4	435	1	0	0	0	0	1	0	0	0	5628	1116	39	5	939	5	FAM81A	15	59808970	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	431057	59808970	42722422	6539	27464											
GCNT3	9245	broad.mit.edu	37	chr15	59910606	59910606	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtactgtaggaatatcttgTataatttcctgaaacttcca	13	15	6	7	0	1	1	0	1	1	0	3	2	3	2	2	1	2	3	2	1	7	8	rs533720563		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:59910606T>C	ENST00000396065.1	+	3	617	c.169T>C	c.(169-171)Tat>Cat	p.Y57H	GCNT3_ENST00000560585.1_Missense_Mutation_p.Y57H	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	57					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAATATCTTGTATAATTTCCT	0.473													T|||	1	0.000199681	0	0	5008	,	,		19859	0		0	False		,,,				2504	0.001					ENST00000396065.1																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(169-171)Tat>Cat		glucosaminyl (N-acetyl) transferase 3, mucin type							111	120	117					15																	59910606		2190	4290	6480	SO:0001583	missense	9245				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	g.chr15:59910606T>C	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.169T>C	15.37:g.59910606T>C	ENSP00000379377:p.Tyr57His					GCNT3_ENST00000560585.1_Missense_Mutation_p.Y57H	p.Y57H	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN			3	617	+			57						Missense_Mutation	SNP	ENST00000396065.1	37	c.169T>C	CCDS10172.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.248762	0.39797	.	.	ENSG00000140297	ENST00000396065	T	0.10005	2.92	6.16	6.16	0.99307	.	0.650295	0.14602	N	0.309555	T	0.16300	0.0392	N	0.08118	0	0.41121	D	0.985816	D	0.76494	0.999	D	0.66196	0.942	T	0.37731	-0.9693	10	0.36615	T	0.2	.	16.4675	0.84087	0.0:0.0:0.0:1.0	.	57	O95395	GCNT3_HUMAN	H	57	ENSP00000379377:Y57H	ENSP00000379377:Y57H	Y	+	1	0	GCNT3	57697898	1.000000	0.71417	0.954000	0.39281	0.044000	0.14063	4.305000	0.59110	2.367000	0.80283	0.528000	0.53228	TAT		0.473	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751		12	64	0	0	0	1	0	12	64					C	59910606	T	C	59910606	3	2	435	1	0	0	0	0	1	0	0	0	6302	1638	57	4	171	4	GCNT3	15	59910606	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	101636	59910606	42620786	6540	27465											
FOXB1	27023	broad.mit.edu	37	chr15	60297596	60297596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctggcggcctcgggcaCgcacctgccacagatgcccg	5	4	14	18	6	0	1	0	0	0	1	1	1	0	1	4	3	2	3	4	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:60297596C>T	ENST00000396057.4	+	2	913	c.434C>T	c.(433-435)aCg>aTg	p.T145M	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	145					axon target recognition (GO:0007412)|cell migration in diencephalon (GO:0061381)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|floor plate development (GO:0033504)|hypothalamus cell migration (GO:0021855)|inferior colliculus development (GO:0061379)|lactation (GO:0007595)|mammary gland lobule development (GO:0061377)|mammillary body development (GO:0021767)|mammillothalamic axonal tract development (GO:0061374)|midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|somitogenesis (GO:0001756)|spinal cord development (GO:0021510)|telencephalon cell migration (GO:0022029)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|visual learning (GO:0008542)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						GCCTCGGGCACGCACCTGCCA	0.706																																						ENST00000396057.4																			0				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						c.(433-435)aCg>aTg		forkhead box B1							5	6	6					15																	60297596		2077	4050	6127	SO:0001583	missense	27023				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	g.chr15:60297596C>T	AF055080	CCDS32255.1	15q22.2	2014-09-09			ENSG00000171956	ENSG00000171956		"Forkhead boxes"	3799	protein-coding gene	gene with protein product							Standard	NM_012182		Approved	HFKH-5, FKH5	uc002agj.1	Q99853	OTTHUMG00000172011	ENST00000396057.4:c.434C>T	15.37:g.60297596C>T	ENSP00000379369:p.Thr145Met					FOXB1_ENST00000560857.1_Intron	p.T145M	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN			2	913	+			145					O60652|O75917|Q14CL2	Missense_Mutation	SNP	ENST00000396057.4	37	c.434C>T	CCDS32255.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441884	0.63067	.	.	ENSG00000171956	ENST00000396057	D	0.95821	-3.82	3.78	3.78	0.43462	.	0.459147	0.18496	U	0.139497	D	0.92548	0.7633	L	0.47716	1.5	0.51482	D	0.999928	B	0.24043	0.096	B	0.14578	0.011	D	0.90937	0.4794	10	0.45353	T	0.12	.	14.3894	0.66968	0.0:1.0:0.0:0.0	.	145	Q99853	FOXB1_HUMAN	M	145	ENSP00000379369:T145M	ENSP00000379369:T145M	T	+	2	0	FOXB1	58084888	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.718000	0.61930	1.913000	0.55393	0.650000	0.86243	ACG		0.706	FOXB1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416378.1			3	9	0	0	0	1	0	3	9					T	60297596	C	T	60297596	3	4	435	1	0	0	0	0	1	0	0	0	5992	536	19	1	436	1	FOXB1	15	60297596	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	386990	60297596	42233796	6541	27466											
FOXB1	27023	broad.mit.edu	37	chr15	60297912	60297912	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttgaagccgctgtgccaCgcggcgggccaaacgctgcc	6	5	14	16	6	0	1	0	1	0	0	0	1	0	1	5	2	4	3	5	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:60297912C>T	ENST00000396057.4	+	2	1229	c.750C>T	c.(748-750)caC>caT	p.H250H	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	250					axon target recognition (GO:0007412)|cell migration in diencephalon (GO:0061381)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|floor plate development (GO:0033504)|hypothalamus cell migration (GO:0021855)|inferior colliculus development (GO:0061379)|lactation (GO:0007595)|mammary gland lobule development (GO:0061377)|mammillary body development (GO:0021767)|mammillothalamic axonal tract development (GO:0061374)|midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|somitogenesis (GO:0001756)|spinal cord development (GO:0021510)|telencephalon cell migration (GO:0022029)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|visual learning (GO:0008542)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						CGCTGTGCCACGCGGCGGGCC	0.716																																						ENST00000396057.4																			0				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						c.(748-750)caC>caT		forkhead box B1							10	12	11					15																	60297912		2148	4192	6340	SO:0001819	synonymous_variant	27023				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	g.chr15:60297912C>T	AF055080	CCDS32255.1	15q22.2	2014-09-09			ENSG00000171956	ENSG00000171956		"Forkhead boxes"	3799	protein-coding gene	gene with protein product							Standard	NM_012182		Approved	HFKH-5, FKH5	uc002agj.1	Q99853	OTTHUMG00000172011	ENST00000396057.4:c.750C>T	15.37:g.60297912C>T						FOXB1_ENST00000560857.1_Intron	p.H250H	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN			2	1229	+			250					O60652|O75917|Q14CL2	Silent	SNP	ENST00000396057.4	37	c.750C>T	CCDS32255.1																																																																																				0.716	FOXB1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416378.1			3	17	0	0	0	1	0	3	17					T	60297912	C	T	60297912	2	4	435	1	0	0	0	0	0	0	0	1	5992	535	19	1		1	FOXB1	15	60297912	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	316	60297912	42233480	6542	27467											
NARG2	79664	broad.mit.edu	37	chr15	60740235	60740235	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctggacactgcagcgtacGagtaacaacaggtcttgcag	11	8	11	11	2	2	0	0	0	2	0	2	2	2	1	0	2	6	4	0	2	3	3	rs146744595		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:60740235G>A	ENST00000261520.4	-	11	2463	c.2229C>T	c.(2227-2229)ctC>ctT	p.L743L	NARG2_ENST00000439632.1_Silent_p.L606L	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TGCAGCGTACGAGTAACAACA	0.388													G|||	1	0.000199681	0	0	5008	,	,		17600	0.001		0	False		,,,				2504	0					ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(2227-2229)ctC>ctT		NMDA receptor regulated 2							154	145	148					15																	60740235		2203	4300	6503	SO:0001819	synonymous_variant	79664					nucleus		g.chr15:60740235G>A																												ENST00000261520.4:c.2229C>T	15.37:g.60740235G>A						NARG2_ENST00000439632.1_Silent_p.L606L	p.L743L	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN			11	2463	-			743						Silent	SNP	ENST00000261520.4	37	c.2229C>T	CCDS10176.1																																																																																				0.388	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			30	70	0	0	0	1	0	30	70					A	60740235	G	A	60740235	2	1	435	1	0	0	0	0	0	0	0	1	10169	1045	37	2		2	NARG2	15	60740235	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	442323	60740235	41791157	6543	27468											
RORA	6095	broad.mit.edu	37	chr15	60789757	60789757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtatattgctttaaatGccattagcttttctgtatgt	8	19	8	6	0	1	0	0	0	1	0	1	0	1	0	1	1	3	4	1	1	6	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:60789757G>A	ENST00000335670.6	-	11	1569	c.1469C>T	c.(1468-1470)gCa>gTa	p.A490V	RORA_ENST00000261523.5_Missense_Mutation_p.A523V|RORA_ENST00000309157.4_Missense_Mutation_p.A515V|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.A435V|RP11-219B17.1_ENST00000558140.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	490	Ligand-binding.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGCTTTAAATGCCATTAGCTT	0.403																																						ENST00000335670.6																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1468-1470)gCa>gTa		RAR-related orphan receptor A							185	156	166					15																	60789757		2203	4300	6503	SO:0001583	missense	6095				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	g.chr15:60789757G>A	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"Nuclear hormone receptors"	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.1469C>T	15.37:g.60789757G>A	ENSP00000335087:p.Ala490Val					RORA_ENST00000449337.2_Missense_Mutation_p.A435V|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.A515V|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.A523V|RP11-219B17.1_ENST00000558235.1_RNA	p.A490V	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN			11	1569	-			523			Ligand-binding.		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	37	c.1469C>T	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657355	0.29425	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	5.96	5.96	0.96718	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.90830	0.7120	N	0.26162	0.8	0.80722	D	1	B;B;B;B	0.19583	0.002;0.017;0.037;0.002	B;B;B;B	0.24155	0.002;0.006;0.051;0.002	D	0.85822	0.1386	10	0.17369	T	0.5	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	490;515;523;435	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	V	490;435;515;523	ENSP00000335087:A490V;ENSP00000402971:A435V;ENSP00000309753:A515V;ENSP00000261523:A523V	ENSP00000261523:A523V	A	-	2	0	RORA	58577049	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.863000	0.87023	2.826000	0.97356	0.655000	0.94253	GCA		0.403	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			13	60	0	0	0	1	0	13	60					A	60789757	G	A	60789757	3	1	435	1	0	0	0	0	1	0	0	0	13528	1319	46	3	106	3	RORA	15	60789757	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	49522	60789757	41741635	6544	27469											
VPS13C	54832	broad.mit.edu	37	chr15	62205518	62205518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagaatcttaccaggtactCcatattgttggcaggacact	11	11	9	10	0	1	1	0	0	1	1	2	2	2	2	2	3	2	4	2	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:62205518C>T	ENST00000261517.5	-	62	8615	c.8542G>A	c.(8542-8544)Gag>Aag	p.E2848K	VPS13C_ENST00000395896.4_Missense_Mutation_p.E2848K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E2805K|RN7SL613P_ENST00000584412.1_RNA|VPS13C_ENST00000395898.3_Missense_Mutation_p.E2805K	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											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						ACCAGGTACTCCATATTGTTG	0.398																																						ENST00000261517.5																			0				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						c.(8542-8544)Gag>Aag		vacuolar protein sorting 13 homolog C (S. cerevisiae)							221	198	206					15																	62205518		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62205518C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8542G>A	15.37:g.62205518C>T	ENSP00000261517:p.Glu2848Lys					VPS13C_ENST00000395898.3_Missense_Mutation_p.E2805K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E2805K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E2848K	p.E2848K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			62	8615	-			2848						Missense_Mutation	SNP	ENST00000261517.5	37	c.8542G>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649519	0.87958	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.29397	1.57;1.57;1.57	5.69	5.69	0.88448	Vacuolar protein sorting-associated protein (1);	0.099975	0.64402	D	0.000002	T	0.43299	0.1241	L	0.38692	1.165	0.58432	D	0.999997	B;B;P;B;B	0.48911	0.041;0.109;0.917;0.203;0.182	B;B;P;B;B	0.55260	0.059;0.059;0.772;0.138;0.098	T	0.20806	-1.0264	10	0.62326	D	0.03	.	19.817	0.96573	0.0:1.0:0.0:0.0	.	2848;2805;2848;2805;2848	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	K	2805;2848;2848;2848	ENSP00000249837:E2805K;ENSP00000261517:E2848K;ENSP00000379233:E2848K	ENSP00000249837:E2805K	E	-	1	0	VPS13C	59992810	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.503000	0.66962	2.678000	0.91216	0.655000	0.94253	GAG		0.398	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		6	103	0	0	0	1	0	6	103					T	62205518	C	T	62205518	3	4	435	1	0	0	0	0	1	0	0	0	17188	864	30	3	2843	3	VPS13C	15	62205518	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1415761	62205518	40325874	6545	27470											
TLN2	83660	broad.mit.edu	37	chr15	62994217	62994217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagacactgactacacaGctgtgggatgtgcgatcacc	10	8	11	12	1	1	2	1	1	0	1	1	4	1	3	1	1	4	2	1	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:62994217G>A	ENST00000561311.1	+	17	1953	c.1723G>A	c.(1723-1725)Gct>Act	p.A575T	TLN2_ENST00000306829.6_Missense_Mutation_p.A575T			Q9Y4G6	TLN2_HUMAN	talin 2	575					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGACTACACAGCTGTGGGATG	0.532																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(1723-1725)Gct>Act		talin 2							101	80	87					15																	62994217		2203	4300	6503	SO:0001583	missense	83660				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	g.chr15:62994217G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1723G>A	15.37:g.62994217G>A	ENSP00000453508:p.Ala575Thr					TLN2_ENST00000306829.6_Missense_Mutation_p.A575T	p.A575T			Q9Y4G6	TLN2_HUMAN			17	1953	+			575					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.1723G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378636	0.95945	.	.	ENSG00000171914	ENST00000306829	T	0.69806	-0.43	5.1	5.1	0.69264	Talin, central (3);	0.045379	0.85682	D	0.000000	T	0.71953	0.3401	M	0.69823	2.125	0.80722	D	1	B	0.30104	0.268	B	0.36922	0.236	T	0.73487	-0.3967	10	0.59425	D	0.04	-7.7135	18.8833	0.92365	0.0:0.0:1.0:0.0	.	575	Q9Y4G6	TLN2_HUMAN	T	575	ENSP00000303476:A575T	ENSP00000303476:A575T	A	+	1	0	TLN2	60781509	1.000000	0.71417	0.995000	0.50966	0.934000	0.57294	9.813000	0.99286	2.532000	0.85374	0.561000	0.74099	GCT		0.532	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			21	89	0	0	0	1	0	21	89					A	62994217	G	A	62994217	3	1	435	1	0	0	0	0	1	0	0	0	15945	971	34	3	1781	3	TLN2	15	62994217	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	788699	62994217	39537175	6546	27471											
TLN2	83660	broad.mit.edu	37	chr15	63125774	63125774	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccattgctgctgccacaagCgccctggtcaaatcggcctc	7	9	9	16	2	1	0	1	0	0	0	4	0	2	0	4	2	4	2	4	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:63125774C>T	ENST00000561311.1	+	54	7304	c.7074C>T	c.(7072-7074)agC>agT	p.S2358S	RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Silent_p.S2358S|RP11-1069G10.1_ENST00000558888.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2358	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTGCCACAAGCGCCCTGGTCA	0.537																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(7072-7074)agC>agT		talin 2							97	98	98					15																	63125774		2203	4300	6503	SO:0001819	synonymous_variant	83660				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	g.chr15:63125774C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7074C>T	15.37:g.63125774C>T						TLN2_ENST00000306829.6_Silent_p.S2358S|RP11-1069G10.1_ENST00000558888.1_RNA	p.S2358S			Q9Y4G6	TLN2_HUMAN			54	7304	+			2358			I/LWEQ.		A6NLB8	Silent	SNP	ENST00000561311.1	37	c.7074C>T	CCDS32261.1																																																																																				0.537	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			35	45	0	0	0	1	0	35	45					T	63125774	C	T	63125774	2	4	435	1	0	0	0	0	0	0	0	1	15945	767	27	1		1	TLN2	15	63125774	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	131557	63125774	39405618	6547	27472											
HERC1	8925	broad.mit.edu	37	chr15	63904748	63904748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggacatcccttctcggactGcagccacctgctcccgggag	7	7	11	16	2	1	0	0	0	1	0	4	3	3	3	4	3	3	2	4	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:63904748G>A	ENST00000443617.2	-	77	14189	c.14102C>T	c.(14101-14103)gCa>gTa	p.A4701V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4701	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			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						TTCTCGGACTGCAGCCACCTG	0.602																																						ENST00000443617.2																			0				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						c.(14101-14103)gCa>gTa		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							77	76	77					15																	63904748		2137	4242	6379	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63904748G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.14102C>T	15.37:g.63904748G>A	ENSP00000390158:p.Ala4701Val						p.A4701V	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			77	14189	-			4701			HECT.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.14102C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	35	5.496388	0.96355	.	.	ENSG00000103657	ENST00000443617	T	0.62788	0.0	5.38	5.38	0.77491	HECT (4);	0.000000	0.85682	D	0.000000	D	0.85492	0.5709	H	0.94620	3.56	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.89508	0.3769	10	0.87932	D	0	.	19.1454	0.93463	0.0:0.0:1.0:0.0	.	4701	Q15751	HERC1_HUMAN	V	4701	ENSP00000390158:A4701V	ENSP00000390158:A4701V	A	-	2	0	HERC1	61691801	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	9.869000	0.99810	2.515000	0.84797	0.650000	0.86243	GCA		0.602	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		13	25	0	0	0	1	0	13	25					A	63904748	G	A	63904748	3	1	435	1	0	0	0	0	1	0	0	0	7057	1319	46	3	491	3	HERC1	15	63904748	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	778974	63904748	38626644	6548	27473											
HERC1	8925	broad.mit.edu	37	chr15	63970404	63970405	+	Frame_Shift_Ins	INS	-	-	T																															tttgtgaagcctttccatcaINStttttttgttaatgcagtaa																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:63970404_63970405insT	ENST00000443617.2	-	37	6796_6797	c.6709_6710insA	c.(6709-6711)atgfs	p.M2237fs	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2237					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			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						CCTTTCCATCATTTTTTTGTTA	0.426																																						ENST00000443617.2																			0				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						c.(6709-6711)gatfs		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1																																				SO:0001589	frameshift_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63970404_63970405insT	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6710dupA	15.37:g.63970411_63970411dupT	ENSP00000390158:p.Met2237fs					RP11-317G6.1_ENST00000559303.2_RNA	p.D2237fs	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			37	6796_6797	-			2237					Q8IW65	Frame_Shift_Ins	INS	ENST00000443617.2	37	c.6709_6710insA	CCDS45277.1																																																																																				0.426	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		10	17						10	17	---	---	---	---	T	63970405	-	T	63970404	7	5	435	1	0	1	1	0	0	0	0	0	7057	217	8	0	8043	0	HERC1	15	63970404	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	65656	63970404	38560988	6549	27474											
HERC1	8925	broad.mit.edu	37	chr15	63984647	63984647	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgctatatttagaagcacTtcggtccactttggggaagc	10	12	11	8	1	0	1	0	0	0	1	2	3	1	2	1	3	3	2	1	3	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:63984647T>C	ENST00000443617.2	-	31	5880	c.5793A>G	c.(5791-5793)gaA>gaG	p.E1931E	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1931					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			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						TTAGAAGCACTTCGGTCCACT	0.353																																						ENST00000443617.2																			0				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						c.(5791-5793)gaA>gaG		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							93	89	91					15																	63984647		1837	4091	5928	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63984647T>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.5793A>G	15.37:g.63984647T>C						RP11-317G6.1_ENST00000559303.2_RNA	p.E1931E	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			31	5880	-			1931					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.5793A>G	CCDS45277.1																																																																																				0.353	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		19	42	0	0	0	1	0	19	42					C	63984647	T	C	63984647	2	2	435	1	0	0	0	0	0	0	0	1	7057	1606	56	4		4	HERC1	15	63984647	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	14243	63984647	38546745	6550	27475											
HERC1	8925	broad.mit.edu	37	chr15	64005614	64005614	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcaactgtccttcttcTcttcgcttctgaagctcatc	5	16	6	14	1	4	1	1	1	3	0	8	1	5	1	1	0	4	4	1	0	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:64005614T>C	ENST00000443617.2	-	23	4488	c.4401A>G	c.(4399-4401)agA>agG	p.R1467R	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1467					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			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						GTCCTTCTTCTCTTCGCTTCT	0.488																																						ENST00000443617.2																			0				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						c.(4399-4401)agA>agG		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							91	89	90					15																	64005614		2027	4181	6208	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64005614T>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4401A>G	15.37:g.64005614T>C						RP11-317G6.1_ENST00000559303.2_RNA	p.R1467R	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			23	4488	-			1467					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.4401A>G	CCDS45277.1																																																																																				0.488	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		22	41	0	0	0	1	0	22	41					C	64005614	T	C	64005614	2	2	435	1	0	0	0	0	0	0	0	1	7057	1548	54	4		4	HERC1	15	64005614	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	20967	64005614	38525778	6551	27476											
ZNF609	23060	broad.mit.edu	37	chr15	64962553	64962553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttattttccagggatgttgGtggtaaatgtaacgtggagg	9	14	14	4	1	0	0	0	0	0	0	1	2	1	2	1	5	1	3	1	5	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:64962553G>A	ENST00000326648.3	+	3	1110	c.982G>A	c.(982-984)Gtg>Atg	p.V328M	ZNF609_ENST00000559364.1_3'UTR|RNU6-549P_ENST00000384433.1_RNA	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	328						nucleus (GO:0005634)	metal ion binding (GO:0046872)			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						AGGGATGTTGGTGGTAAATGT	0.423																																						ENST00000326648.3																			0				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						c.(982-984)Gtg>Atg		zinc finger protein 609							276	229	245					15																	64962553		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64962553G>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.982G>A	15.37:g.64962553G>A	ENSP00000316527:p.Val328Met					ZNF609_ENST00000559364.1_3'UTR	p.V328M	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			3	1110	+			328					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.982G>A	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190610	0.94923	.	.	ENSG00000180357	ENST00000326648	T	0.69926	-0.44	5.34	5.34	0.76211	.	0.129801	0.53938	D	0.000050	T	0.82010	0.4944	M	0.76328	2.33	0.80722	D	1	D	0.56521	0.976	D	0.69142	0.962	D	0.84011	0.0348	10	0.87932	D	0	-29.4156	19.0415	0.93002	0.0:0.0:1.0:0.0	.	328	O15014	ZN609_HUMAN	M	328	ENSP00000316527:V328M	ENSP00000316527:V328M	V	+	1	0	ZNF609	62749606	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.766000	0.98957	2.487000	0.83934	0.655000	0.94253	GTG		0.423	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		29	25	0	0	0	1	0	29	25					A	64962553	G	A	64962553	3	1	435	1	0	0	0	0	1	0	0	0	18032	1261	44	3	992	3	ZNF609	15	64962553	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	956939	64962553	37568839	6552	27477											
ZNF609	23060	broad.mit.edu	37	chr15	64970399	64970399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagcggtggaaggaggagCgggaccgcaaattgaaggag	13	4	19	5	3	0	2	0	2	0	0	0	7	0	7	1	6	2	1	1	6	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:64970399C>T	ENST00000326648.3	+	5	3615	c.3487C>T	c.(3487-3489)Cgg>Tgg	p.R1163W		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1163						nucleus (GO:0005634)	metal ion binding (GO:0046872)			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						GAAGGAGGAGCGGGACCGCAA	0.527																																						ENST00000326648.3																			0				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						c.(3487-3489)Cgg>Tgg		zinc finger protein 609							72	58	63					15																	64970399		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64970399C>T	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.3487C>T	15.37:g.64970399C>T	ENSP00000316527:p.Arg1163Trp						p.R1163W	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			5	3615	+			1163					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.3487C>T	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152485	0.78001	.	.	ENSG00000180357	ENST00000326648	T	0.54479	0.57	5.44	5.44	0.79542	.	0.055458	0.64402	D	0.000001	T	0.68769	0.3037	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.71337	-0.4623	10	0.87932	D	0	-11.1133	13.4309	0.61055	0.2763:0.7237:0.0:0.0	.	1163	O15014	ZN609_HUMAN	W	1163	ENSP00000316527:R1163W	ENSP00000316527:R1163W	R	+	1	2	ZNF609	62757452	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.472000	0.35376	2.537000	0.85549	0.650000	0.86243	CGG		0.527	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		10	24	0	0	0	1	0	10	24					T	64970399	C	T	64970399	3	4	435	1	0	0	0	0	1	0	0	0	18032	759	27	1	3505	1	ZNF609	15	64970399	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7846	64970399	37560993	6553	27478											
RBPMS2	348093	broad.mit.edu	37	chr15	65041343	65041343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggattttcgggatcaaagcGaataccctacatgggtagag	12	10	12	7	2	1	1	1	0	0	1	2	4	1	3	1	3	3	1	1	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65041343G>A	ENST00000300069.4	-	5	541	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	RBPMS2_ENST00000560606.1_5'UTR	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	92	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						GGATCAAAGCGAATACCCTAC	0.498																																						ENST00000300069.4																			0				breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						c.(274-276)Cgc>Tgc		RNA binding protein with multiple splicing 2							140	129	133					15																	65041343		2202	4299	6501	SO:0001583	missense	348093						nucleic acid binding|nucleotide binding	g.chr15:65041343G>A	AY369207	CCDS32271.1	15q22.31	2014-05-15			ENSG00000166831	ENSG00000166831		"RNA binding motif (RRM) containing"	19098	protein-coding gene	gene with protein product							Standard	NM_194272		Approved		uc002anq.3	Q6ZRY4	OTTHUMG00000172423	ENST00000300069.4:c.274C>T	15.37:g.65041343G>A	ENSP00000300069:p.Arg92Cys					RBPMS2_ENST00000560606.1_5'UTR	p.R92C	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN			5	541	-			92			RRM.		A2RRG0	Missense_Mutation	SNP	ENST00000300069.4	37	c.274C>T	CCDS32271.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508186	0.64410	.	.	ENSG00000166831	ENST00000300069	T	0.16457	2.34	5.08	5.08	0.68730	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.41251	-0.9519	10	0.87932	D	0	-5.5714	17.447	0.87580	0.0:0.0:1.0:0.0	.	92	Q6ZRY4	RBPS2_HUMAN	C	92	ENSP00000300069:R92C	ENSP00000300069:R92C	R	-	1	0	RBPMS2	62828396	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	8.005000	0.88553	2.524000	0.85096	0.563000	0.77884	CGC		0.498	RBPMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418466.1			12	62	0	0	0	1	0	12	62					A	65041343	G	A	65041343	3	1	435	1	0	0	0	0	1	0	0	0	13164	1058	37	2	367	2	RBPMS2	15	65041343	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	70944	65041343	37490049	6554	27479											
ANKDD1A	348094	broad.mit.edu	37	chr15	65242086	65242086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggagctatcaggagcacgGccaccgaatgctgctcattt	10	8	11	12	2	2	0	2	0	0	0	2	3	2	2	2	3	4	4	2	3	2	2	rs534249413		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65242086G>A	ENST00000380230.3	+	14	1405	c.1376G>A	c.(1375-1377)gGc>gAc	p.G459D	ANKDD1A_ENST00000357698.3_Missense_Mutation_p.G427D|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.G459D|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.G336D	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	459	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CAGGAGCACGGCCACCGAATG	0.622													G|||	1	0.000199681	0	0	5008	,	,		19704	0		0	False		,,,				2504	0.001					ENST00000380230.3																			0				NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						c.(1375-1377)gGc>gAc		ankyrin repeat and death domain containing 1A							69	67	67					15																	65242086		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65242086G>A		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"Ankyrin repeat domain containing"	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1376G>A	15.37:g.65242086G>A	ENSP00000369579:p.Gly459Asp					ANKDD1A_ENST00000395723.1_Missense_Mutation_p.G336D|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.G427D|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.G459D	p.G459D	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN			14	1405	+			459			Death.		Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.1376G>A	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239351	0.79800	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000395723	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	4.96	4.05	0.47172	Death (2);DEATH-like (2);	0.000000	0.64402	D	0.000009	D	0.91192	0.7225	M	0.78049	2.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.77004	0.989	D	0.91264	0.5039	10	0.52906	T	0.07	-19.5031	12.2001	0.54319	0.0826:0.0:0.9174:0.0	.	459	Q495B1	AKD1A_HUMAN	D	459;427;459;336	ENSP00000369579:G459D;ENSP00000350329:G427D;ENSP00000379070:G459D;ENSP00000379073:G336D	ENSP00000350329:G427D	G	+	2	0	ANKDD1A	63029139	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	5.963000	0.70372	1.340000	0.45581	0.655000	0.94253	GGC		0.622	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		25	35	0	0	0	1	0	25	35					A	65242086	G	A	65242086	3	1	435	1	0	0	0	0	1	0	0	0	624	1203	42	3	1430	3	ANKDD1A	15	65242086	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	200743	65242086	37289306	6555	27480											
SPG21	51324	broad.mit.edu	37	chr15	65261632	65261632	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccgaattttatgaggtTccacataagaattttgacaa	13	14	7	7	1	0	3	0	2	0	1	2	4	2	3	2	1	0	1	2	1	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65261632T>C	ENST00000204566.2	-	7	924	c.629A>G	c.(628-630)gAa>gGa	p.E210G	SPG21_ENST00000559199.1_Missense_Mutation_p.E56G|SPG21_ENST00000433215.2_Missense_Mutation_p.E210G|SPG21_ENST00000416889.2_Missense_Mutation_p.E183G	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	210				E -> V (in Ref. 4; BAD18813). {ECO:0000305}.	antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TTTATGAGGTTCCACATAAGA	0.343																																						ENST00000559199.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(166-168)gAa>gGa		spastic paraplegia 21 (autosomal recessive, Mast syndrome)							105	110	108					15																	65261632		2202	4299	6501	SO:0001583	missense	51324				cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding	g.chr15:65261632T>C	AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"maspardin"	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.629A>G	15.37:g.65261632T>C	ENSP00000204566:p.Glu210Gly					SPG21_ENST00000204566.2_Missense_Mutation_p.E210G|SPG21_ENST00000433215.2_Missense_Mutation_p.E210G|SPG21_ENST00000416889.2_Missense_Mutation_p.E183G	p.E56G			Q9NZD8	SPG21_HUMAN			5	1167	-			210					B4DW44|Q6ZMB6	Missense_Mutation	SNP	ENST00000204566.2	37	c.167A>G	CCDS10198.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.209914	0.79240	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	T;T;T	0.69685	-0.42;-0.42;-0.42	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.63034	0.2477	L	0.27053	0.805	0.80722	D	1	D;P	0.53745	0.962;0.889	P;P	0.51101	0.528;0.659	T	0.60265	-0.7297	10	0.24483	T	0.36	-1.1168	15.2533	0.73564	0.0:0.0:0.0:1.0	.	183;210	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	G	210;183;210	ENSP00000204566:E210G;ENSP00000394846:E183G;ENSP00000404111:E210G	ENSP00000204566:E210G	E	-	2	0	SPG21	63048685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.673000	0.83973	2.271000	0.75665	0.528000	0.53228	GAA		0.343	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3	NM_016630		17	61	0	0	0	1	0	17	61					C	65261632	T	C	65261632	3	2	435	1	0	0	0	0	1	0	0	0	15042	1783	62	4	309	4	SPG21	15	65261632	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	19546	65261632	37269760	6556	27481											
KBTBD13	390594	broad.mit.edu	37	chr15	65370349	65370349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttcacggccgtggtgcGcggtgacaccgtctatacgg	5	9	14	13	6	3	1	1	1	2	0	3	1	3	1	2	4	2	1	2	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65370349G>A	ENST00000432196.2	+	1	1196	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	399					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						GCCGTGGTGCGCGGTGACACC	0.672																																						ENST00000432196.2																			0				lung(1)|prostate(1)|skin(1)	3						c.(1195-1197)cGc>cAc		kelch repeat and BTB (POZ) domain containing 13							15	16	16					15																	65370349		2070	4138	6208	SO:0001583	missense	390594					cytoplasm		g.chr15:65370349G>A		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.1196G>A	15.37:g.65370349G>A	ENSP00000388723:p.Arg399His						p.R399H	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN			1	1196	+			399						Missense_Mutation	SNP	ENST00000432196.2	37	c.1196G>A	CCDS45281.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375322	0.42105	.	.	ENSG00000234438	ENST00000432196	T	0.65732	-0.17	4.97	4.97	0.65823	Kelch-type beta propeller (1);	.	.	.	.	T	0.68137	0.2968	L	0.55990	1.75	0.35340	D	0.786392	D	0.89917	1.0	D	0.63957	0.92	T	0.69030	-0.5253	9	0.15066	T	0.55	.	9.9831	0.41826	0.1312:0.0:0.8688:0.0	.	399	C9JR72	KBTBD_HUMAN	H	399	ENSP00000388723:R399H	ENSP00000388723:R399H	R	+	2	0	KBTBD13	63157402	1.000000	0.71417	0.998000	0.56505	0.833000	0.47200	4.058000	0.57463	2.295000	0.77249	0.655000	0.94253	CGC		0.672	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		4	13	0	0	0	1	0	4	13					A	65370349	G	A	65370349	3	1	435	1	0	0	0	0	1	0	0	0	7992	1087	38	1	1198	1	KBTBD13	15	65370349	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	108717	65370349	37161043	6557	27482											
CILP	8483	broad.mit.edu	37	chr15	65489526	65489526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcacactggctcgacggCagctgccctgggggatgacc	6	7	15	13	2	1	1	1	1	0	0	2	3	1	2	2	5	2	4	2	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65489526C>T	ENST00000261883.4	-	9	3264	c.3098G>A	c.(3097-3099)tGc>tAc	p.C1033Y		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1033					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GGCTCGACGGCAGCTGCCCTG	0.577																																						ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(3097-3099)tGc>tAc		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							119	76	91					15																	65489526		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489526C>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.3098G>A	15.37:g.65489526C>T	ENSP00000261883:p.Cys1033Tyr						p.C1033Y	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			9	3264	-			1033					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.3098G>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327097	0.60743	.	.	ENSG00000138615	ENST00000261883	T	0.09163	3.01	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.37839	0.1018	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.21518	-1.0243	10	0.87932	D	0	-7.8681	18.1542	0.89686	0.0:1.0:0.0:0.0	.	1033	O75339	CILP1_HUMAN	Y	1033	ENSP00000261883:C1033Y	ENSP00000261883:C1033Y	C	-	2	0	CILP	63276579	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.795000	0.85887	2.527000	0.85204	0.655000	0.94253	TGC		0.577	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		17	28	0	0	0	1	0	17	28					T	65489526	C	T	65489526	3	4	435	1	0	0	0	0	1	0	0	0	3429	710	25	3	460	3	CILP	15	65489526	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	119177	65489526	37041866	6558	27483											
IGDCC3	9543	broad.mit.edu	37	chr15	65623855	65623855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagacacagagactgcccGcacattgcggggaggcccgg	10	3	16	12	3	0	2	0	0	0	2	0	5	0	4	2	5	2	1	2	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65623855G>A	ENST00000327987.4	-	8	1542	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	431	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GAGACTGCCCGCACATTGCGG	0.627																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1291-1293)Cgg>Tgg		immunoglobulin superfamily, DCC subclass, member 3							36	35	35					15																	65623855		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65623855G>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1291C>T	15.37:g.65623855G>A	ENSP00000332773:p.Arg431Trp					IGDCC3_ENST00000559231.1_5'UTR	p.R431W	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			8	1542	-			431			Fibronectin type-III 1.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.1291C>T	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004493	0.35320	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.59083	0.29	4.92	2.91	0.33838	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.233150	0.05514	N	0.560809	T	0.69178	0.3082	M	0.71581	2.175	0.09310	N	1	D	0.69078	0.997	P	0.56788	0.806	T	0.49818	-0.8899	10	0.62326	D	0.03	-1.8024	6.3268	0.21248	0.0944:0.0:0.538:0.3675	.	431	Q8IVU1	IGDC3_HUMAN	W	431;294	ENSP00000332773:R431W	ENSP00000332773:R431W	R	-	1	2	IGDCC3	63410908	0.688000	0.27680	0.125000	0.21846	0.007000	0.05969	4.111000	0.57838	1.046000	0.40249	-0.136000	0.14681	CGG		0.627	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		5	23	0	0	0	1	0	5	23					A	65623855	G	A	65623855	3	1	435	1	0	0	0	0	1	0	0	0	7568	1086	38	1	1181	1	IGDCC3	15	65623855	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	134329	65623855	36907537	6559	27484											
IGDCC3	9543	broad.mit.edu	37	chr15	65628161	65628161	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctcacctctcattgtcCgtgtcaattgggactctgtt	5	15	10	11	1	4	0	3	0	2	0	6	1	5	1	2	2	0	2	2	2	1	3	rs149026166	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65628161C>T	ENST00000327987.4	-	3	794	c.543G>A	c.(541-543)acG>acA	p.T181T	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	181	Ig-like C2-type 2.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCTCATTGTCCGTGTCAATTG	0.597													C|||	3	0.000599042	0	0	5008	,	,		21354	0		0	False		,,,				2504	0.0031					ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(541-543)acG>acA		immunoglobulin superfamily, DCC subclass, member 3		C		1,4401	2.1+/-5.4	0,1,2200	173	162	166		543	-2.8	0.1	15	dbSNP_134	166	8,8590	6.4+/-24.3	0,8,4291	no	coding-synonymous	IGDCC3	NM_004884.3		0,9,6491	TT,TC,CC		0.093,0.0227,0.0692		181/815	65628161	9,12991	2201	4299	6500	SO:0001819	synonymous_variant	9543							g.chr15:65628161C>T	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.543G>A	15.37:g.65628161C>T							p.T181T	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			3	794	-			181			Ig-like C2-type 2.		O95215	Silent	SNP	ENST00000327987.4	37	c.543G>A	CCDS10205.1																																																																																				0.597	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		34	57	0	0	0	1	0	34	57					T	65628161	C	T	65628161	2	4	435	1	0	0	0	0	0	0	0	1	7568	639	23	2		2	IGDCC3	15	65628161	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4306	65628161	36903231	6560	27485											
DPP8	54878	broad.mit.edu	37	chr15	65759487	65759487	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatttacgtaactgactacGtacaggtgatgctctaaagg	12	11	11	7	2	1	2	0	2	1	0	1	3	1	3	0	3	5	3	0	3	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65759487G>A	ENST00000341861.5	-	13	3239	c.1659C>T	c.(1657-1659)taC>taT	p.Y553Y	DPP8_ENST00000321147.6_Silent_p.Y553Y|DPP8_ENST00000358939.4_Silent_p.Y537Y|DPP8_ENST00000300141.6_Silent_p.Y537Y|DPP8_ENST00000321118.7_Silent_p.Y553Y|DPP8_ENST00000559233.1_Silent_p.Y553Y|DPP8_ENST00000339244.5_Silent_p.Y380Y	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	553					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			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						AACTGACTACGTACAGGTGAT	0.418																																						ENST00000341861.5																			0				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						c.(1657-1659)taC>taT		dipeptidyl-peptidase 8							122	112	115					15																	65759487		2201	4299	6500	SO:0001819	synonymous_variant	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65759487G>A	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"dipeptidyl peptidase VIII", "dipeptidyl peptidase IV-related protein-1", "prolyl dipeptidase DPP8"	606819	"dipeptidylpeptidase 8"			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1659C>T	15.37:g.65759487G>A						DPP8_ENST00000559233.1_Silent_p.Y553Y|DPP8_ENST00000339244.5_Silent_p.Y380Y|DPP8_ENST00000358939.4_Silent_p.Y537Y|DPP8_ENST00000321147.6_Silent_p.Y553Y|DPP8_ENST00000321118.7_Silent_p.Y553Y|DPP8_ENST00000300141.6_Silent_p.Y537Y	p.Y553Y	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN			13	3239	-			553					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Silent	SNP	ENST00000341861.5	37	c.1659C>T	CCDS10207.1																																																																																				0.418	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		8	57	0	0	0	1	0	8	57					A	65759487	G	A	65759487	2	1	435	1	0	0	0	0	0	0	0	1	4732	1140	40	1		1	DPP8	15	65759487	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	131326	65759487	36771905	6561	27486											
DPP8	54878	broad.mit.edu	37	chr15	65793039	65793039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgataatcgtaagaagCaattccgactgttccaatgc	12	12	9	8	2	0	2	0	1	0	1	3	3	2	2	2	1	2	3	2	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65793039C>T	ENST00000341861.5	-	4	2079	c.499G>A	c.(499-501)Gct>Act	p.A167T	Y_RNA_ENST00000516408.1_RNA|DPP8_ENST00000321147.6_Missense_Mutation_p.A167T|DPP8_ENST00000358939.4_Missense_Mutation_p.A151T|DPP8_ENST00000300141.6_Missense_Mutation_p.A151T|DPP8_ENST00000321118.7_Missense_Mutation_p.A167T|DPP8_ENST00000559233.1_Missense_Mutation_p.A167T|DPP8_ENST00000339244.5_Missense_Mutation_p.A167T	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	167					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			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						TCGTAAGAAGCAATTCCGACT	0.408																																						ENST00000341861.5																			0				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						c.(499-501)Gct>Act		dipeptidyl-peptidase 8							215	202	207					15																	65793039		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65793039C>T	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"dipeptidyl peptidase VIII", "dipeptidyl peptidase IV-related protein-1", "prolyl dipeptidase DPP8"	606819	"dipeptidylpeptidase 8"			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.499G>A	15.37:g.65793039C>T	ENSP00000339208:p.Ala167Thr					DPP8_ENST00000559233.1_Missense_Mutation_p.A167T|DPP8_ENST00000339244.5_Missense_Mutation_p.A167T|DPP8_ENST00000358939.4_Missense_Mutation_p.A151T|DPP8_ENST00000321147.6_Missense_Mutation_p.A167T|DPP8_ENST00000321118.7_Missense_Mutation_p.A167T|DPP8_ENST00000300141.6_Missense_Mutation_p.A151T	p.A167T	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN			4	2079	-			167					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.499G>A	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	C	9.132	1.011675	0.19277	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72	5.91	5.91	0.95273	.	0.073726	0.56097	D	0.000023	T	0.08670	0.0215	N	0.01352	-0.895	0.23685	N	0.99711	B;B;B;B	0.20671	0.0;0.047;0.0;0.0	B;B;B;B	0.15484	0.001;0.013;0.001;0.0	T	0.15321	-1.0441	10	0.02654	T	1	-26.5164	15.0544	0.71901	0.142:0.858:0.0:0.0	.	151;151;167;167	Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;DPP8_HUMAN	T	167;151;151;167;167;167;167	ENSP00000339208:A167T;ENSP00000351817:A151T;ENSP00000300141:A151T;ENSP00000318111:A167T;ENSP00000316373:A167T;ENSP00000341230:A167T;ENSP00000379013:A167T	ENSP00000300141:A151T	A	-	1	0	DPP8	63580092	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.319000	0.51983	2.791000	0.96007	0.650000	0.86243	GCT		0.408	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		43	65	0	0	0	1	0	43	65					T	65793039	C	T	65793039	3	4	435	1	0	0	0	0	1	0	0	0	4732	710	25	3	2265	3	DPP8	15	65793039	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33552	65793039	36738353	6562	27487											
DENND4A	10260	broad.mit.edu	37	chr15	65957793	65957793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttcagacatacagtggCggggaatctgtgttatacaa	12	12	10	7	1	3	1	1	0	2	1	3	2	3	2	0	3	2	1	0	3	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65957793C>T	ENST00000431932.2	-	29	5325	c.5117G>A	c.(5116-5118)cGc>cAc	p.R1706H	DENND4A_ENST00000443035.3_Missense_Mutation_p.R1749H	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1706					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CATACAGTGGCGGGGAATCTG	0.303																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(5245-5247)cGc>cAc		DENN/MADD domain containing 4A							101	100	100					15																	65957793		1857	4109	5966	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65957793C>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.5117G>A	15.37:g.65957793C>T	ENSP00000396830:p.Arg1706His					DENND4A_ENST00000431932.2_Missense_Mutation_p.R1706H	p.R1749H	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			30	5461	-			1706					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.5246G>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055084	0.55325	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05447	3.45;3.44	5.57	5.57	0.84162	.	0.192049	0.48767	D	0.000178	T	0.20740	0.0499	L	0.50333	1.59	0.47308	D	0.99938	D;D	0.89917	0.999;1.0	D;D	0.66847	0.91;0.947	T	0.00086	-1.2096	10	0.44086	T	0.13	.	19.5503	0.95314	0.0:1.0:0.0:0.0	.	1749;1706	E7EPL3;Q7Z401	.;MYCPP_HUMAN	H	1749;1706	ENSP00000391167:R1749H;ENSP00000396830:R1706H	ENSP00000396830:R1706H	R	-	2	0	DENND4A	63744847	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	2.911000	0.48774	2.619000	0.88677	0.561000	0.74099	CGC		0.303	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		18	30	0	0	0	1	0	18	30					T	65957793	C	T	65957793	3	4	435	1	0	0	0	0	1	0	0	0	4433	768	27	1	490	1	DENND4A	15	65957793	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	164754	65957793	36573599	6563	27488											
DENND4A	10260	broad.mit.edu	37	chr15	66030196	66030196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actatcagacttcccatctgCtgatgttaaacccaaaagaa	15	10	5	11	0	2	3	1	1	1	2	3	3	3	3	2	0	2	2	2	0	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:66030196C>T	ENST00000431932.2	-	7	1097	c.889G>A	c.(889-891)Gca>Aca	p.A297T	DENND4A_ENST00000443035.3_Missense_Mutation_p.A297T	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	297					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TTCCCATCTGCTGATGTTAAA	0.383																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(889-891)Gca>Aca		DENN/MADD domain containing 4A							68	62	64					15																	66030196		1836	4094	5930	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66030196C>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.889G>A	15.37:g.66030196C>T	ENSP00000396830:p.Ala297Thr					DENND4A_ENST00000431932.2_Missense_Mutation_p.A297T	p.A297T	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			7	1104	-			297					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.889G>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565379	0.27915	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05139	3.5;3.49	5.29	3.38	0.38709	.	0.575725	0.18143	N	0.150343	T	0.04952	0.0133	N	0.24115	0.695	0.23862	N	0.996633	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.38156	-0.9674	10	0.21014	T	0.42	.	12.1679	0.54141	0.0:0.8509:0.0:0.1491	.	297;297;297	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	T	297	ENSP00000391167:A297T;ENSP00000396830:A297T	ENSP00000396830:A297T	A	-	1	0	DENND4A	63817250	0.000000	0.05858	0.813000	0.32504	0.996000	0.88848	0.897000	0.28390	1.374000	0.46228	0.591000	0.81541	GCA		0.383	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		5	5	0	0	0	1	0	5	5					T	66030196	C	T	66030196	3	4	435	1	0	0	0	0	1	0	0	0	4433	797	28	3	4939	3	DENND4A	15	66030196	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	72403	66030196	36501196	6564	27489											
MEGF11	84465	broad.mit.edu	37	chr15	66206195	66206195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcaaataggcccagcagcaCcacaatgaggaataacagga	17	3	11	10	0	0	1	0	1	0	0	0	3	0	3	2	4	3	3	2	4	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:66206195C>T	ENST00000409699.2	-	20	2762	c.2590G>A	c.(2590-2592)Gtg>Atg	p.V864M	MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.V789M|MEGF11_ENST00000422354.1_Missense_Mutation_p.V864M|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.V789M|MEGF11_ENST00000395614.1_Missense_Mutation_p.V37M			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	864					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						CCCAGCAGCACCACAATGAGG	0.602																																						ENST00000409699.2																			0				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						c.(2590-2592)Gtg>Atg		multiple EGF-like-domains 11							66	61	63					15																	66206195		2201	4299	6500	SO:0001583	missense	84465					basolateral plasma membrane|integral to membrane		g.chr15:66206195C>T	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2590G>A	15.37:g.66206195C>T	ENSP00000386908:p.Val864Met					MEGF11_ENST00000395625.2_Missense_Mutation_p.V789M|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.V789M|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000395614.1_Missense_Mutation_p.V37M|MEGF11_ENST00000422354.1_Missense_Mutation_p.V864M	p.V864M			A6BM72	MEG11_HUMAN			20	2762	-			864					Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.2590G>A	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.151032	0.78001	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000395614	D;D;D;D;T	0.87412	-2.25;-2.15;-2.25;-2.15;1.35	4.65	4.65	0.58169	.	0.206543	0.23660	U	0.045827	D	0.85414	0.5691	N	0.22421	0.69	0.80722	D	1	P;D	0.54397	0.954;0.966	P;P	0.56823	0.646;0.807	D	0.85544	0.1217	10	0.51188	T	0.08	.	11.2378	0.48951	0.0:0.9159:0.0:0.0841	.	864;789	A6BM72;A6BM72-2	MEG11_HUMAN;.	M	864;789;864;789;37	ENSP00000386908:V864M;ENSP00000288745:V789M;ENSP00000414475:V864M;ENSP00000378987:V789M;ENSP00000378976:V37M	ENSP00000288745:V789M	V	-	1	0	MEGF11	63993249	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.320000	0.43797	2.407000	0.81776	0.555000	0.69702	GTG		0.602	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		14	21	0	0	0	1	0	14	21					T	66206195	C	T	66206195	3	4	435	1	0	0	0	0	1	0	0	0	9461	507	18	3	560	3	MEGF11	15	66206195	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	175999	66206195	36325197	6565	27490											
ZWILCH	55055	broad.mit.edu	37	chr15	66813467	66813467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcacagcatcacaaactgCgatcgctttggatatttcct	12	12	6	11	2	2	0	2	0	0	0	4	2	3	1	1	1	3	2	1	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:66813467C>T	ENST00000307897.5	+	7	1051	c.671C>T	c.(670-672)gCg>gTg	p.A224V	ZWILCH_ENST00000535141.2_Missense_Mutation_p.A110V|ZWILCH_ENST00000565627.1_Missense_Mutation_p.A110V|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000446801.2_Missense_Mutation_p.A110V|RPL4_ENST00000564517.1_Intron	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	224					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TCACAAACTGCGATCGCTTTG	0.458																																						ENST00000307897.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						c.(670-672)gCg>gTg		zwilch kinetochore protein							269	269	269					15																	66813467		2201	4299	6500	SO:0001583	missense	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66813467C>T	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"Zwilch, kinetochore associated, homolog (Drosophila)"			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.671C>T	15.37:g.66813467C>T	ENSP00000311429:p.Ala224Val					RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000446801.2_Missense_Mutation_p.A110V|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000535141.2_Missense_Mutation_p.A110V|ZWILCH_ENST00000565627.1_Missense_Mutation_p.A110V	p.A224V	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN			7	1051	+			224					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	ENST00000307897.5	37	c.671C>T	CCDS10219.1	.	.	.	.	.	.	.	.	.	.	c	5.233	0.228510	0.09916	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.43294	0.95;0.95;0.95	5.63	2.64	0.31445	.	0.681943	0.15345	N	0.267296	T	0.14399	0.0348	N	0.02011	-0.69	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.14839	-1.0458	10	0.41790	T	0.15	1.3497	1.6539	0.02777	0.1411:0.4695:0.1373:0.252	.	224	Q9H900	ZWILC_HUMAN	V	224;110;110	ENSP00000311429:A224V;ENSP00000402217:A110V;ENSP00000437749:A110V	ENSP00000311429:A224V	A	+	2	0	ZWILCH	64600521	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.341000	0.19909	0.281000	0.22233	-0.355000	0.07637	GCG		0.458	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		105	178	0	0	0	1	0	105	178					T	66813467	C	T	66813467	3	4	435	1	0	0	0	0	1	0	0	0	18245	768	27	1	697	1	ZWILCH	15	66813467	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	607272	66813467	35717925	6566	27491											
IQCH	64799	broad.mit.edu	37	chr15	67692587	67692587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctaaagtgctacaaatggGtgctaaaggagagtagcaga	16	7	12	6	0	0	2	0	0	0	2	0	3	0	2	1	2	4	4	1	2	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:67692587G>A	ENST00000335894.4	+	14	2107	c.2041G>A	c.(2041-2043)Gtg>Atg	p.V681M	IQCH_ENST00000358767.3_Missense_Mutation_p.V417M|IQCH_ENST00000546225.1_Missense_Mutation_p.V338M|IQCH_ENST00000360277.4_Missense_Mutation_p.V342M	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	681										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CTACAAATGGGTGCTAAAGGA	0.448																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(2041-2043)Gtg>Atg		IQ motif containing H							134	127	129					15																	67692587		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67692587G>A	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2041G>A	15.37:g.67692587G>A	ENSP00000336861:p.Val681Met					IQCH_ENST00000358767.3_Missense_Mutation_p.V417M|IQCH_ENST00000360277.4_Missense_Mutation_p.V342M|IQCH_ENST00000546225.1_Missense_Mutation_p.V338M	p.V681M	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	14	2107	+			681					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.2041G>A	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	G	6.095	0.385714	0.11524	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.48201	0.85;0.85;0.82;0.85	5.43	-4.54	0.03452	.	1.023220	0.07791	N	0.954941	T	0.30759	0.0775	L	0.40543	1.245	0.23168	N	0.998188	B;B;B	0.32731	0.109;0.179;0.382	B;B;B	0.32624	0.075;0.103;0.149	T	0.24799	-1.0150	10	0.44086	T	0.13	-29.4627	2.1786	0.03868	0.2954:0.2789:0.3243:0.1015	.	338;342;681	Q86VS3-2;Q86VS3-4;Q86VS3	.;.;IQCH_HUMAN	M	417;338;681;342	ENSP00000351617:V417M;ENSP00000444118:V338M;ENSP00000336861:V681M;ENSP00000353419:V342M	ENSP00000336861:V681M	V	+	1	0	IQCH	65479641	0.124000	0.22315	0.002000	0.10522	0.013000	0.08279	0.381000	0.20619	-0.883000	0.03982	-0.165000	0.13383	GTG		0.448	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		11	46	0	0	0	1	0	11	46					A	67692587	G	A	67692587	3	1	435	1	0	0	0	0	1	0	0	0	7811	1261	44	3	2223	3	IQCH	15	67692587	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	879120	67692587	34838805	6567	27492											
IQCH	64799	broad.mit.edu	37	chr15	67768131	67768131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttctccagatctgtagggCccatggcattggctatgatg	7	14	11	9	0	2	2	0	1	2	1	3	2	2	2	2	3	0	3	2	3	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:67768131C>T	ENST00000335894.4	+	18	2840	c.2774C>T	c.(2773-2775)gCc>gTc	p.A925V	IQCH_ENST00000358767.3_Missense_Mutation_p.A661V|IQCH_ENST00000546225.1_Missense_Mutation_p.A582V|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000360277.4_Missense_Mutation_p.A586V	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	925										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ATCTGTAGGGCCCATGGCATT	0.498																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(2773-2775)gCc>gTc		IQ motif containing H							143	116	125					15																	67768131		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67768131C>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2774C>T	15.37:g.67768131C>T	ENSP00000336861:p.Ala925Val					IQCH_ENST00000358767.3_Missense_Mutation_p.A661V|IQCH_ENST00000360277.4_Missense_Mutation_p.A586V|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Missense_Mutation_p.A582V	p.A925V	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	18	2840	+			925					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.2774C>T	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	.	24.0	4.482557	0.84747	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.48201	0.82;2.57;2.57;0.82	5.95	4.98	0.66077	.	0.179571	0.47852	D	0.000202	T	0.61098	0.2320	M	0.68317	2.08	0.44261	D	0.997114	D;D;P	0.58268	0.982;0.982;0.767	P;P;P	0.55087	0.768;0.768;0.661	T	0.64170	-0.6470	10	0.66056	D	0.02	-8.6438	16.2926	0.82758	0.0:0.8676:0.1324:0.0	.	582;586;925	Q86VS3-2;Q86VS3-4;Q86VS3	.;.;IQCH_HUMAN	V	661;582;925;586	ENSP00000351617:A661V;ENSP00000444118:A582V;ENSP00000336861:A925V;ENSP00000353419:A586V	ENSP00000336861:A925V	A	+	2	0	IQCH	65555185	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	3.040000	0.49799	2.817000	0.96982	0.563000	0.77884	GCC		0.498	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		19	32	0	0	0	1	0	19	32					T	67768131	C	T	67768131	3	4	435	1	0	0	0	0	1	0	0	0	7811	739	26	3	2972	3	IQCH	15	67768131	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	75544	67768131	34763261	6568	27493											
LBXCOR1	390598	broad.mit.edu	37	chr15	68118589	68118589	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagattctgcgtcgggcCggggccatgcccatctcgtc	4	9	14	14	4	2	1	0	0	2	1	5	2	2	1	3	4	2	0	3	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:68118589C>T	ENST00000380035.2	+	2	481	c.423C>T	c.(421-423)gcC>gcT	p.A141A	SKOR1_ENST00000554240.1_Silent_p.A102A|SKOR1_ENST00000554054.1_Silent_p.A113A|SKOR1_ENST00000389002.1_Silent_p.A132A|SKOR1_ENST00000341418.5_Silent_p.A327A			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	141					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						TGCGTCGGGCCGGGGCCATGC	0.627																																						ENST00000380035.2																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						c.(421-423)gcC>gcT		SKI family transcriptional corepressor 1							58	58	58					15																	68118589		2200	4296	6496	SO:0001819	synonymous_variant	390598				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	g.chr15:68118589C>T		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.423C>T	15.37:g.68118589C>T						SKOR1_ENST00000341418.5_Silent_p.A327A|SKOR1_ENST00000554054.1_Silent_p.A113A|SKOR1_ENST00000554240.1_Silent_p.A102A|SKOR1_ENST00000389002.1_Silent_p.A132A	p.A141A			P84550	SKOR1_HUMAN			2	481	+			141					A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37	c.423C>T																																																																																					0.627	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		13	17	0	0	0	1	0	13	17					T	68118589	C	T	68118589	2	4	435	1	0	0	0	0	0	0	0	1	8655	639	23	2		2	LBXCOR1	15	68118589	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	350458	68118589	34412803	6569	27494											
CLN6	54982	broad.mit.edu	37	chr15	68510983	68510983	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcatcagcgctcacagagCcatgcctgggaaggaaccag	11	5	11	14	1	3	1	3	0	0	1	3	3	3	3	4	2	4	1	4	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:68510983C>A	ENST00000249806.5	-	2	246	c.89G>T	c.(88-90)gGc>gTc	p.G30V	RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000569336.1_5'UTR|CLN6_ENST00000564752.1_Missense_Mutation_p.G30V|CLN6_ENST00000566347.1_Missense_Mutation_p.G30V|CLN6_ENST00000538696.1_Missense_Mutation_p.G62V|CLN6_ENST00000418702.2_5'UTR|CLN6_ENST00000565471.1_Intron	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	30					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCTCACAGAGCCATGCCTGGG	0.572																																						ENST00000249806.5																			0				large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(88-90)gGc>gTc		ceroid-lipofuscinosis, neuronal 6, late infantile, variant							73	69	71					15																	68510983		2200	4298	6498	SO:0001583	missense	54982				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	g.chr15:68510983C>A	AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.89G>T	15.37:g.68510983C>A	ENSP00000249806:p.Gly30Val					CLN6_ENST00000418702.2_5'UTR|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000569336.1_5'UTR|CLN6_ENST00000564752.1_Missense_Mutation_p.G30V|CLN6_ENST00000538696.1_Missense_Mutation_p.G62V|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000566347.1_Missense_Mutation_p.G30V	p.G30V	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN			2	246	-			30					A8K560|B4DDH6|Q6IAB1|Q96SR0	Missense_Mutation	SNP	ENST00000249806.5	37	c.89G>T	CCDS10227.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948306	0.34377	.	.	ENSG00000128973	ENST00000249806;ENST00000538696	D;D	0.95205	-3.64;-3.64	5.27	2.04	0.26737	.	1.074220	0.07144	N	0.847785	D	0.91399	0.7286	L	0.40543	1.245	0.09310	N	0.999995	B;B	0.14438	0.01;0.002	B;B	0.15484	0.013;0.004	T	0.80786	-0.1227	10	0.40728	T	0.16	-5.4113	11.6403	0.51228	0.0:0.6588:0.2678:0.0734	.	62;30	B4DDH6;Q9NWW5	.;CLN6_HUMAN	V	30;62	ENSP00000249806:G30V;ENSP00000445770:G62V	ENSP00000249806:G30V	G	-	2	0	CLN6	66298037	0.004000	0.15560	0.077000	0.20336	0.172000	0.22775	1.741000	0.38238	0.582000	0.29556	0.561000	0.74099	GGC		0.572	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1	NM_017882		10	22	1	0	0.00621372	1	0.00628055	10	22					A	68510983	C	A	68510983	3	1	435	1	0	0	0	0	1	0	0	0	3545	739	26	5	870	5	CLN6	15	68510983	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	392394	68510983	34020409	6570	27495											
FEM1B	10116	broad.mit.edu	37	chr15	68583314	68583314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagtgcccttcatattatcGttcagtacaacaggcccatc	11	11	6	13	1	2	0	2	0	0	0	4	0	2	0	2	1	3	2	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:68583314G>A	ENST00000306917.4	+	2	2233	c.1618G>A	c.(1618-1620)Gtt>Att	p.V540I		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	540					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCATATTATCGTTCAGTACAA	0.473																																						ENST00000306917.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(1618-1620)Gtt>Att		fem-1 homolog b (C. elegans)							236	210	219					15																	68583314		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68583314G>A		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"Ankyrin repeat domain containing"	3649	protein-coding gene	gene with protein product		613539	"FEM-1 (C. elegans) homolog b"			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.1618G>A	15.37:g.68583314G>A	ENSP00000307298:p.Val540Ile						p.V540I	NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN			2	2233	+			540					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.1618G>A	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031406	0.54790	.	.	ENSG00000169018	ENST00000306917	T	0.54866	0.55	5.88	5.88	0.94601	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	L	0.58428	1.81	0.80722	D	1	D	0.71674	0.998	P	0.54590	0.756	T	0.64368	-0.6424	10	0.52906	T	0.07	-16.0046	19.2149	0.93772	0.0:0.0:1.0:0.0	.	540	Q9UK73	FEM1B_HUMAN	I	540	ENSP00000307298:V540I	ENSP00000307298:V540I	V	+	1	0	FEM1B	66370368	1.000000	0.71417	0.345000	0.25642	0.976000	0.68499	9.793000	0.99091	2.791000	0.96007	0.491000	0.48974	GTT		0.473	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			44	53	0	0	0	1	0	44	53					A	68583314	G	A	68583314	3	1	435	1	0	0	0	0	1	0	0	0	5810	1145	40	1	1624	1	FEM1B	15	68583314	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	72331	68583314	33948078	6571	27496											
ITGA11	22801	broad.mit.edu	37	chr15	68628055	68628055	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggccccgcatagcctGgtggatggtgaggctccggt	4	9	16	12	2	0	1	0	1	0	0	1	2	1	2	4	6	2	3	4	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:68628055G>A	ENST00000315757.7	-	12	1491	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	ITGA11_ENST00000423218.2_Nonsense_Mutation_p.Q469*	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	469					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			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						CGCATAGCCTGGTGGATGGTG	0.637																																						ENST00000423218.2																			0				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						c.(1405-1407)Cag>Tag		integrin, alpha 11	Tirofiban(DB00775)						30	37	35					15																	68628055		2042	4186	6228	SO:0001587	stop_gained	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68628055G>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1405C>T	15.37:g.68628055G>A	ENSP00000327290:p.Gln469*					ITGA11_ENST00000315757.7_Nonsense_Mutation_p.Q469*	p.Q469*			Q9UKX5	ITA11_HUMAN			12	1500	-			469					J3KQM2|Q8WYI8|Q9UKQ1	Nonsense_Mutation	SNP	ENST00000315757.7	37	c.1405C>T	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	G	40	7.960839	0.98583	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491;ENST00000537153	.	.	.	5.77	5.77	0.91146	.	0.108809	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.9796	0.92751	0.0:0.0:1.0:0.0	.	.	.	.	X	469;469;104;469	.	ENSP00000327290:Q469X	Q	-	1	0	ITGA11	66415109	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.596000	0.74113	2.723000	0.93209	0.655000	0.94253	CAG		0.637	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		10	9	0	0	0	1	0	10	9					A	68628055	G	A	68628055	4	1	435	1	0	0	0	0	0	1	0	0	7874	1357	47	3	2237	3	ITGA11	15	68628055	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44741	68628055	33903337	6572	27497											
SPESP1	246777	broad.mit.edu	37	chr15	69223001	69223001	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacgacgcctatgaagccCttagtccttctagttgcgct	7	11	10	13	4	1	1	0	1	1	0	2	3	2	2	3	1	2	2	3	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:69223001C>A	ENST00000310673.3	+	1	163	c.9C>A	c.(7-9)ccC>ccA	p.P3P	RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_Intron|NOX5_ENST00000260364.5_5'UTR|NOX5_ENST00000455873.3_5'UTR|NOX5_ENST00000448182.3_5'UTR	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	3					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CTATGAAGCCCTTAGTCCTTC	0.627																																						ENST00000310673.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(7-9)ccC>ccA		sperm equatorial segment protein 1							425	311	349					15																	69223001		2200	4298	6498	SO:0001819	synonymous_variant	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69223001C>A	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.9C>A	15.37:g.69223001C>A						RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_Intron|NOX5_ENST00000448182.3_5'UTR|NOX5_ENST00000260364.5_5'UTR|NOX5_ENST00000455873.3_5'UTR	p.P3P	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN			1	163	+			3					Q8NG22|Q8WVH8	Silent	SNP	ENST00000310673.3	37	c.9C>A	CCDS10230.1																																																																																				0.627	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		59	99	1	0	2.53126e-37	1	2.84264e-37	59	99					A	69223001	C	A	69223001	2	1	435	1	0	0	0	0	0	0	0	1	15039	668	24	5		5	SPESP1	15	69223001	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	594946	69223001	33308391	6573	27498											
KIF23	9493	broad.mit.edu	37	chr15	69728547	69728547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtagacaaggcaatatgtgGtttaacgcctgggaggagat	12	10	14	5	1	0	2	0	0	0	2	0	4	0	3	1	4	1	3	1	4	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:69728547G>A	ENST00000260363.4	+	13	1460	c.1343G>A	c.(1342-1344)gGt>gAt	p.G448D	KIF23_ENST00000537891.1_Missense_Mutation_p.G265D|KIF23_ENST00000559279.1_Missense_Mutation_p.G448D|KIF23_ENST00000352331.4_Missense_Mutation_p.G448D|KIF23_ENST00000395392.2_Missense_Mutation_p.G448D|KIF23_ENST00000558585.1_Missense_Mutation_p.G265D	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	448					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GCAATATGTGGTTTAACGCCT	0.413																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(1342-1344)gGt>gAt		kinesin family member 23							154	148	150					15																	69728547		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69728547G>A	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1343G>A	15.37:g.69728547G>A	ENSP00000260363:p.Gly448Asp					KIF23_ENST00000558585.1_Missense_Mutation_p.G265D|KIF23_ENST00000559279.1_Missense_Mutation_p.G448D|KIF23_ENST00000352331.4_Missense_Mutation_p.G448D|KIF23_ENST00000537891.1_Missense_Mutation_p.G265D|KIF23_ENST00000395392.2_Missense_Mutation_p.G448D	p.G448D	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			13	1460	+			448					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.1343G>A	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005417	0.74932	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.77489	-0.93;-0.9;-0.92;-1.1	5.59	5.59	0.84812	.	0.047457	0.85682	D	0.000000	D	0.87462	0.6183	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.98;1.0;0.999	D	0.85659	0.1287	10	0.35671	T	0.21	.	18.572	0.91138	0.0:0.0:1.0:0.0	.	265;448;448	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	D	448;448;448;265	ENSP00000260363:G448D;ENSP00000304978:G448D;ENSP00000378790:G448D;ENSP00000442969:G265D	ENSP00000260363:G448D	G	+	2	0	KIF23	67515601	1.000000	0.71417	0.222000	0.23844	0.211000	0.24417	9.591000	0.98241	2.613000	0.88420	0.655000	0.94253	GGT		0.413	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				34	46	0	0	0	1	0	34	46					A	69728547	G	A	69728547	3	1	435	1	0	0	0	0	1	0	0	0	8291	1261	44	3	1393	3	KIF23	15	69728547	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	505546	69728547	32802845	6574	27499											
RPLP1	6176	broad.mit.edu	37	chr15	69747510	69747510	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatgcacatgtattgcaggCcctggccaacgtcaacattg	10	9	10	12	1	1	0	1	0	0	0	1	0	1	0	2	2	4	4	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:69747510C>T	ENST00000260379.6	+	3	314	c.149C>T	c.(148-150)gCc>gTc	p.A50V	U3_ENST00000384391.1_RNA|RPLP1_ENST00000560274.1_Intron|RPLP1_ENST00000357790.5_Splice_Site_p.A25V	NM_001003.2	NP_000994.1	P05386	RLA1_HUMAN	ribosomal protein, large, P1	50					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			ovary(1)	1						GTATTGCAGGCCCTGGCCAAC	0.562																																						ENST00000260379.6																			0				ovary(1)	1						c.e3-1		ribosomal protein, large, P1							95	95	95					15																	69747510		2199	4298	6497	SO:0001630	splice_region_variant	6176				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr15:69747510C>T		CCDS10233.1, CCDS10234.1	15q22	2011-07-29			ENSG00000137818	ENSG00000137818		"L ribosomal proteins"	10372	protein-coding gene	gene with protein product		180520					Standard	NM_001003		Approved	LP1	uc002asd.1	P05386	OTTHUMG00000133359	ENST00000260379.6:c.148-1C>T	15.37:g.69747510C>T						RPLP1_ENST00000357790.5_Splice_Site_p.A25_splice|RPLP1_ENST00000560274.1_Intron	p.A50_splice	NM_001003.2	NP_000994.1	P05386	RLA1_HUMAN			3	314	+			50					A6NIB2	Splice_Site	SNP	ENST00000260379.6	37	c.147_splice	CCDS10233.1	.	.	.	.	.	.	.	.	.	.	C	32	5.174701	0.94807	.	.	ENSG00000137818	ENST00000260379;ENST00000357790	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.84759	0.5543	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;0.983	D;P	0.91635	0.999;0.764	D	0.86615	0.1875	9	0.48119	T	0.1	.	16.4202	0.83755	0.0:1.0:0.0:0.0	.	25;50	A6NIB2;P05386	.;RLA1_HUMAN	V	50;25	.	ENSP00000346037:A50V	A	+	2	0	RPLP1	67534564	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.317000	0.79018	2.476000	0.83614	0.557000	0.71058	GCC		0.562	RPLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257195.2	NM_001003	Missense_Mutation	24	53	0	0	0	1	0	24	53					T	69747510	C	T	69747510	5	4	435	1	0	0	0	0	0	0	1	0	13605	753	26	3	159	3	RPLP1	15	69747510	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18963	69747510	32783882	6575	27500											
RPLP1	6176	broad.mit.edu	37	chr15	69747804	69747804	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaaagaaagaagaatcCgaggagtctgatgatgacat	18	6	12	5	1	1	6	0	3	1	3	2	9	2	7	1	1	1	1	1	1	5	0	rs562950236		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:69747804C>T	ENST00000260379.6	+	4	468	c.303C>T	c.(301-303)tcC>tcT	p.S101S	U3_ENST00000384391.1_RNA|RPLP1_ENST00000560274.1_Missense_Mutation_p.P37L|RPLP1_ENST00000357790.5_Silent_p.S76S	NM_001003.2	NP_000994.1	P05386	RLA1_HUMAN	ribosomal protein, large, P1	101					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			ovary(1)	1						AAGAAGAATCCGAGGAGTCTG	0.353													C|||	1	0.000199681	0	0	5008	,	,		19759	0		0	False		,,,				2504	0.001					ENST00000560274.1																			0				ovary(1)	1						c.(109-111)cCg>cTg		ribosomal protein, large, P1							54	51	52					15																	69747804		2199	4298	6497	SO:0001819	synonymous_variant	6176				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr15:69747804C>T		CCDS10233.1, CCDS10234.1	15q22	2011-07-29			ENSG00000137818	ENSG00000137818		"L ribosomal proteins"	10372	protein-coding gene	gene with protein product		180520					Standard	NM_001003		Approved	LP1	uc002asd.1	P05386	OTTHUMG00000133359	ENST00000260379.6:c.303C>T	15.37:g.69747804C>T						RPLP1_ENST00000260379.6_Silent_p.S101S|RPLP1_ENST00000357790.5_Silent_p.S76S	p.P37L			P05386	RLA1_HUMAN			2	175	+			0					A6NIB2	Missense_Mutation	SNP	ENST00000260379.6	37	c.110C>T	CCDS10233.1																																																																																				0.353	RPLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257195.2	NM_001003		8	32	0	0	0	1	0	8	32					T	69747804	C	T	69747804	2	4	435	1	0	0	0	0	0	0	0	1	13605	639	23	2		2	RPLP1	15	69747804	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	294	69747804	32783588	6576	27501											
TLE3	7090	broad.mit.edu	37	chr15	70347431	70347431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttgctgcctggctggCtgatgtcccagatcttcacg	4	12	12	13	1	3	2	1	1	2	1	4	2	4	2	2	3	2	4	2	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:70347431C>T	ENST00000558939.1	-	15	2921	c.1544G>A	c.(1543-1545)aGc>aAc	p.S515N	TLE3_ENST00000557997.1_Missense_Mutation_p.S507N|TLE3_ENST00000557907.1_Missense_Mutation_p.S507N|TLE3_ENST00000559191.1_Missense_Mutation_p.S96N|TLE3_ENST00000442299.2_Missense_Mutation_p.S507N|TLE3_ENST00000558201.1_Missense_Mutation_p.S521N|TLE3_ENST00000440567.3_Missense_Mutation_p.S505N|TLE3_ENST00000539550.1_Missense_Mutation_p.S442N|TLE3_ENST00000560589.1_Missense_Mutation_p.S459N|TLE3_ENST00000558379.1_Missense_Mutation_p.S510N|TLE3_ENST00000560939.1_Missense_Mutation_p.S517N|TLE3_ENST00000559929.1_Missense_Mutation_p.S525N|TLE3_ENST00000559048.1_Missense_Mutation_p.S515N|TLE3_ENST00000451782.2_Missense_Mutation_p.S512N|TLE3_ENST00000317509.8_Missense_Mutation_p.S503N	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	515					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCCTGGCTGGCTGATGTCCCA	0.647																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1543-1545)aGc>aAc		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							43	45	45					15																	70347431		2199	4298	6497	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70347431C>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"WD repeat domain containing"	11839	protein-coding gene	gene with protein product		600190	"transducin-like enhancer of split 3, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1544G>A	15.37:g.70347431C>T	ENSP00000452871:p.Ser515Asn					TLE3_ENST00000442299.2_Missense_Mutation_p.S507N|TLE3_ENST00000560939.1_Missense_Mutation_p.S517N|TLE3_ENST00000559191.1_Missense_Mutation_p.S96N|TLE3_ENST00000559929.1_Missense_Mutation_p.S525N|TLE3_ENST00000560589.1_Missense_Mutation_p.S459N|TLE3_ENST00000317509.8_Missense_Mutation_p.S503N|TLE3_ENST00000558201.1_Missense_Mutation_p.S521N|TLE3_ENST00000557997.1_Missense_Mutation_p.S507N|TLE3_ENST00000539550.1_Missense_Mutation_p.S442N|TLE3_ENST00000557907.1_Missense_Mutation_p.S507N|TLE3_ENST00000558379.1_Missense_Mutation_p.S510N|TLE3_ENST00000440567.3_Missense_Mutation_p.S505N|TLE3_ENST00000559048.1_Missense_Mutation_p.S515N|TLE3_ENST00000451782.2_Missense_Mutation_p.S512N	p.S515N			Q04726	TLE3_HUMAN			15	2921	-			515					B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.1544G>A	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205019	0.58234	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550;ENST00000542329	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	4.54	4.54	0.55810	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.046653	0.85682	D	0.000000	T	0.07638	0.0192	N	0.03608	-0.345	0.58432	D	0.999997	B;B;B;B;B;B;B;B	0.29988	0.264;0.008;0.014;0.018;0.003;0.004;0.179;0.003	B;B;B;B;B;B;B;B	0.37989	0.262;0.008;0.025;0.018;0.01;0.005;0.177;0.006	T	0.47420	-0.9119	10	0.40728	T	0.16	-26.9844	16.2284	0.82315	0.0:1.0:0.0:0.0	.	505;512;507;510;503;515;515;442	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	N	507;512;515;505;442;182	ENSP00000390007:S507N;ENSP00000394717:S512N;ENSP00000415057:S505N;ENSP00000442594:S442N	ENSP00000319233:S515N	S	-	2	0	TLE3	68134485	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.553000	0.82203	2.352000	0.79861	0.462000	0.41574	AGC		0.647	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		7	14	0	0	0	1	0	7	14					T	70347431	C	T	70347431	3	4	435	1	0	0	0	0	1	0	0	0	15937	797	28	3	798	3	TLE3	15	70347431	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	599627	70347431	32183961	6577	27502											
UACA	55075	broad.mit.edu	37	chr15	70959254	70959254	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcaaaacttcctcacataCttcctcatactttctattca	12	15	1	13	0	4	0	3	0	1	0	6	0	6	0	2	0	4	1	2	0	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:70959254C>A	ENST00000322954.6	-	16	3954	c.3769G>T	c.(3769-3771)Gta>Tta	p.V1257L	UACA_ENST00000560441.1_Missense_Mutation_p.V1242L|UACA_ENST00000539319.1_Missense_Mutation_p.V1148L|UACA_ENST00000379983.2_Missense_Mutation_p.V1244L	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1257					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TCCTCACATACTTCCTCATAC	0.333																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(3769-3771)Gta>Tta		uveal autoantigen with coiled-coil domains and ankyrin repeats							154	151	152					15																	70959254		2199	4298	6497	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70959254C>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3769G>T	15.37:g.70959254C>A	ENSP00000314556:p.Val1257Leu					UACA_ENST00000560441.1_Missense_Mutation_p.V1242L|UACA_ENST00000539319.1_Missense_Mutation_p.V1148L|UACA_ENST00000379983.2_Missense_Mutation_p.V1244L	p.V1257L	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	3954	-			1257					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.3769G>T	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604610	0.28623	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.33865	1.39;1.42;1.88	5.85	4.93	0.64822	.	0.568573	0.16843	N	0.197263	T	0.27384	0.0672	L	0.42245	1.32	0.21220	N	0.999755	B;B;B;B	0.32188	0.121;0.124;0.124;0.359	B;B;B;B	0.29176	0.042;0.019;0.019;0.099	T	0.09907	-1.0653	10	0.25751	T	0.34	-10.1296	8.8613	0.35258	0.0:0.7917:0.0:0.2083	.	1148;1257;1257;1244	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	L	1257;1244;1148	ENSP00000314556:V1257L;ENSP00000369319:V1244L;ENSP00000438667:V1148L	ENSP00000314556:V1257L	V	-	1	0	UACA	68746308	0.888000	0.30383	0.977000	0.42913	0.995000	0.86356	1.112000	0.31172	2.767000	0.95098	0.655000	0.94253	GTA		0.333	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			6	123	1	0	0.000157383	1	0.000161063	6	123					A	70959254	C	A	70959254	3	1	435	1	0	0	0	0	1	0	0	0	16821	565	20	5	497	5	UACA	15	70959254	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	611823	70959254	31572138	6578	27503											
UACA	55075	broad.mit.edu	37	chr15	70979979	70979979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagaacaagtggtgtccGcccgtcctaagcaacaggaa	13	5	11	12	2	0	1	0	0	0	1	2	2	2	2	4	2	4	1	4	2	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:70979979G>A	ENST00000322954.6	-	7	687	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	UACA_ENST00000560441.1_Missense_Mutation_p.R155W|UACA_ENST00000539319.1_Intron|UACA_ENST00000379983.2_Missense_Mutation_p.R155W	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	168					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGTGGTGTCCGCCCGTCCTAA	0.393																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(502-504)Cgg>Tgg		uveal autoantigen with coiled-coil domains and ankyrin repeats							73	69	71					15																	70979979		2199	4297	6496	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70979979G>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.502C>T	15.37:g.70979979G>A	ENSP00000314556:p.Arg168Trp					UACA_ENST00000560441.1_Missense_Mutation_p.R155W|UACA_ENST00000539319.1_Intron|UACA_ENST00000379983.2_Missense_Mutation_p.R155W	p.R168W	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			7	687	-			168					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.502C>T	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200920	0.79015	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362	T;T	0.66638	-0.22;-0.22	5.82	5.82	0.92795	Ankyrin repeat-containing domain (4);	0.000000	0.50627	D	0.000117	T	0.76212	0.3956	L	0.45470	1.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.77140	-0.2697	10	0.72032	D	0.01	-22.1923	13.0699	0.59055	0.0:0.0:0.7345:0.2655	.	168;168;155	B7ZKM6;Q9BZF9;G3XAG2	.;UACA_HUMAN;.	W	168;155;155	ENSP00000314556:R168W;ENSP00000369319:R155W	ENSP00000314556:R168W	R	-	1	2	UACA	68767033	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.763000	0.55257	2.756000	0.94617	0.563000	0.77884	CGG		0.393	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			29	52	0	0	0	1	0	29	52					A	70979979	G	A	70979979	3	1	435	1	0	0	0	0	1	0	0	0	16821	1086	38	1	3800	1	UACA	15	70979979	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20725	70979979	31551413	6579	27504											
MYO9A	4649	broad.mit.edu	37	chr15	72300229	72300229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatatcaatggagtcatcccGgtatgtcttctttttgtaac	9	16	8	8	1	4	0	2	0	2	0	5	2	5	1	1	2	1	2	1	2	4	6	rs374349089		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:72300229G>A	ENST00000356056.5	-	8	1790	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.R421W|MYO9A_ENST00000424560.1_Missense_Mutation_p.R440W|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000564571.1_Missense_Mutation_p.R440W|MYO9A_ENST00000566885.1_Missense_Mutation_p.R35W	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	440	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAGTCATCCCGGTATGTCTTC	0.343																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(1318-1320)Cgg>Tgg		myosin IXA		G	TRP/ARG	1,4397	2.1+/-5.4	0,1,2198	130	129	130		1318	4.2	0.9	15		130	0,8594		0,0,4297	no	missense	MYO9A	NM_006901.2	101	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	440/2549	72300229	1,12991	2199	4297	6496	SO:0001583	missense	4649				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	g.chr15:72300229G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.1318C>T	15.37:g.72300229G>A	ENSP00000348349:p.Arg440Trp					MYO9A_ENST00000563542.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.R421W|MYO9A_ENST00000566885.1_Missense_Mutation_p.R35W|MYO9A_ENST00000564571.1_Missense_Mutation_p.R440W|MYO9A_ENST00000424560.1_Missense_Mutation_p.R440W	p.R440W	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			8	1790	-			440			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.1318C>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.864861	0.71949	2.27E-4	0.0	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87491	-2.26;-2.26;-2.26	5.17	4.25	0.50352	Myosin head, motor domain (2);	.	.	.	.	D	0.94245	0.8152	M	0.90922	3.16	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.988;0.994;0.995	D	0.94370	0.7595	9	0.45353	T	0.12	.	13.6016	0.62022	0.0766:0.0:0.9234:0.0	.	421;440;421;440	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	W	440;440;421;421;440	ENSP00000348349:R440W;ENSP00000399162:R440W;ENSP00000398250:R421W	ENSP00000261864:R421W	R	-	1	2	MYO9A	70087283	1.000000	0.71417	0.941000	0.38009	0.982000	0.71751	3.280000	0.51677	1.299000	0.44798	0.563000	0.77884	CGG		0.343	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		13	28	0	0	0	1	0	13	28					A	72300229	G	A	72300229	3	1	435	1	0	0	0	0	1	0	0	0	10084	1115	39	2	6468	2	MYO9A	15	72300229	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1320250	72300229	30231163	6580	27505											
MYO9A	4649	broad.mit.edu	37	chr15	72338298	72338298	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccagttggtggttatcatAcattttgacatatttggggt	8	17	10	6	0	1	1	1	1	0	0	2	1	2	1	1	4	1	2	1	4	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:72338298A>G	ENST00000356056.5	-	2	1079	c.607T>C	c.(607-609)Tat>Cat	p.Y203H	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.Y203H|MYO9A_ENST00000424560.1_Missense_Mutation_p.Y203H|MYO9A_ENST00000564571.1_Missense_Mutation_p.Y203H|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000566885.1_Intron	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	203	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGTTATCATACATTTTGACA	0.363																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(607-609)Tat>Cat		myosin IXA							80	75	77					15																	72338298		2199	4297	6496	SO:0001583	missense	4649				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	g.chr15:72338298A>G	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.607T>C	15.37:g.72338298A>G	ENSP00000348349:p.Tyr203His					MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.Y203H|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Missense_Mutation_p.Y203H|MYO9A_ENST00000424560.1_Missense_Mutation_p.Y203H	p.Y203H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			2	1079	-			203			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.607T>C	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274285	0.80580	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.82526	-1.62;-1.62;-1.62	5.92	5.92	0.95590	Myosin head, motor domain (2);	.	.	.	.	D	0.93697	0.7986	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95237	0.8348	9	0.87932	D	0	.	16.4074	0.83684	1.0:0.0:0.0:0.0	.	203;203;203	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	H	203	ENSP00000348349:Y203H;ENSP00000399162:Y203H;ENSP00000398250:Y203H	ENSP00000261864:Y203H	Y	-	1	0	MYO9A	70125352	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.249000	0.95470	2.275000	0.75901	0.529000	0.55759	TAT		0.363	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		20	19	0	0	0	1	0	20	19					G	72338298	A	G	72338298	3	3	435	1	0	0	0	0	1	0	0	0	10084	391	14	4	7203	4	MYO9A	15	72338298	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	38069	72338298	30193094	6581	27506											
MYO9A	4649	broad.mit.edu	37	chr15	72338876	72338876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgttcattatcttcaaagCgtcgtcttcctccatcattt	8	18	4	11	2	5	0	3	0	2	0	8	0	7	0	2	0	1	1	2	0	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:72338876C>T	ENST00000356056.5	-	2	501	c.29G>A	c.(28-30)cGc>cAc	p.R10H	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.R10H|MYO9A_ENST00000424560.1_Missense_Mutation_p.R10H|MYO9A_ENST00000564571.1_Missense_Mutation_p.R10H|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000566885.1_Intron	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	10					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATCTTCAAAGCGTCGTCTTCC	0.398																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(28-30)cGc>cAc		myosin IXA							144	144	144					15																	72338876		2199	4297	6496	SO:0001583	missense	4649				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	g.chr15:72338876C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.29G>A	15.37:g.72338876C>T	ENSP00000348349:p.Arg10His					MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.R10H|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Missense_Mutation_p.R10H|MYO9A_ENST00000424560.1_Missense_Mutation_p.R10H	p.R10H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			2	501	-			10					B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.29G>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	c	25.9	4.682187	0.88542	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.86297	-2.09;-2.1;-2.08	5.01	5.01	0.66863	.	.	.	.	.	D	0.92485	0.7614	M	0.68317	2.08	0.80722	D	1	D;D;D	0.76494	0.993;0.997;0.999	P;D;D	0.68943	0.855;0.933;0.961	D	0.93189	0.6581	9	0.66056	D	0.02	.	17.9925	0.89172	0.0:1.0:0.0:0.0	.	10;10;10	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	H	10	ENSP00000348349:R10H;ENSP00000399162:R10H;ENSP00000398250:R10H	ENSP00000261864:R10H	R	-	2	0	MYO9A	70125930	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.741000	0.84997	2.328000	0.79073	0.454000	0.30748	CGC		0.398	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		38	59	0	0	0	1	0	38	59					T	72338876	C	T	72338876	3	4	435	1	0	0	0	0	1	0	0	0	10084	768	27	1	7781	1	MYO9A	15	72338876	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	578	72338876	30192516	6582	27507											
GRAMD2	196996	broad.mit.edu	37	chr15	72454678	72454678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctagccgagaaatacGgaacgccaggtaggatgagg	12	6	14	9	3	1	2	0	1	1	1	1	5	1	4	2	4	4	2	2	4	5	3	rs144563180		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:72454678G>A	ENST00000309731.7	-	11	1010	c.997C>T	c.(997-999)Cgt>Tgt	p.R333C	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	333						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CGAGAAATACGGAACGCCAGG	0.478																																						ENST00000309731.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(997-999)Cgt>Tgt		GRAM domain containing 2							88	81	83					15																	72454678		2199	4297	6496	SO:0001583	missense	196996					integral to membrane		g.chr15:72454678G>A	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.997C>T	15.37:g.72454678G>A	ENSP00000311657:p.Arg333Cys						p.R333C	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN			11	1010	-			333					B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	c.997C>T	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273125	0.59649	.	.	ENSG00000175318	ENST00000309731	T	0.56611	0.45	5.26	5.26	0.73747	.	0.081273	0.50627	D	0.000112	T	0.70046	0.3179	L	0.61218	1.895	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.72997	-0.4121	10	0.87932	D	0	.	15.6291	0.76888	0.0:0.0:1.0:0.0	.	333	Q8IUY3	GRAM2_HUMAN	C	333	ENSP00000311657:R333C	ENSP00000311657:R333C	R	-	1	0	GRAMD2	70241732	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	2.988000	0.49386	2.449000	0.82847	0.563000	0.77884	CGT		0.478	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642		14	19	0	0	0	1	0	14	19					A	72454678	G	A	72454678	3	1	435	1	0	0	0	0	1	0	0	0	6750	1116	39	2	75	2	GRAMD2	15	72454678	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	115802	72454678	30076714	6583	27508											
GRAMD2	196996	broad.mit.edu	37	chr15	72455632	72455632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagaccttgaggagccGgtaatcccagagcctcagct	13	6	11	11	1	1	4	1	1	0	3	2	5	2	5	4	2	3	2	4	2	3	2	rs141361666		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:72455632G>A	ENST00000309731.7	-	10	944	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	311						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TTGAGGAGCCGGTAATCCCAG	0.567													G|||	1	0.000199681	0	0	5008	,	,		17304	0		0.001	False		,,,				2504	0					ENST00000309731.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(931-933)Cgg>Tgg		GRAM domain containing 2							61	64	63					15																	72455632		2199	4297	6496	SO:0001583	missense	196996					integral to membrane		g.chr15:72455632G>A	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.931C>T	15.37:g.72455632G>A	ENSP00000311657:p.Arg311Trp					GRAMD2_ENST00000564184.1_5'UTR	p.R311W	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN			10	944	-			311					B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	c.931C>T	CCDS32283.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.43	1.935742	0.34189	.	.	ENSG00000175318	ENST00000309731	T	0.34275	1.37	5.46	2.51	0.30379	.	0.688795	0.13721	N	0.367369	T	0.23965	0.0580	L	0.34521	1.04	0.24378	N	0.99481	P	0.52061	0.95	B	0.39971	0.315	T	0.13098	-1.0522	10	0.72032	D	0.01	.	5.3861	0.16218	0.17:0.0:0.6676:0.1624	.	311	Q8IUY3	GRAM2_HUMAN	W	311	ENSP00000311657:R311W	ENSP00000311657:R311W	R	-	1	2	GRAMD2	70242686	0.034000	0.19679	0.222000	0.23844	0.223000	0.24884	1.201000	0.32259	0.647000	0.30713	0.655000	0.94253	CGG		0.567	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642		7	24	0	0	0	1	0	7	24					A	72455632	G	A	72455632	3	1	435	1	0	0	0	0	1	0	0	0	6750	1115	39	2	145	2	GRAMD2	15	72455632	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	954	72455632	30075760	6584	27509											
PARP6	56965	broad.mit.edu	37	chr15	72533877	72533877	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtattaatgttggcatcGcccacctgaccatcctcata	10	12	7	12	1	1	2	1	2	0	0	3	2	2	2	4	1	0	3	4	1	3	4	rs546050509		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:72533877G>A	ENST00000569795.1	-	24	2499	c.1812C>T	c.(1810-1812)ggC>ggT	p.G604G	PARP6_ENST00000260376.7_3'UTR|PARP6_ENST00000287196.9_Silent_p.G604G|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	604	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TGTTGGCATCGCCCACCTGAC	0.468													G|||	1	0.000199681	0	0	5008	,	,		22459	0		0	False		,,,				2504	0.001					ENST00000569795.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1810-1812)ggC>ggT		poly (ADP-ribose) polymerase family, member 6							92	89	90					15																	72533877		1993	4173	6166	SO:0001819	synonymous_variant	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72533877G>A	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"Poly (ADP-ribose) polymerases"	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1812C>T	15.37:g.72533877G>A						PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Silent_p.G604G|PARP6_ENST00000260376.7_3'UTR	p.G604G			Q2NL67	PARP6_HUMAN			24	2499	-			604			PARP catalytic.		Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Silent	SNP	ENST00000569795.1	37	c.1812C>T	CCDS10241.2																																																																																				0.468	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		18	31	0	0	0	1	0	18	31					A	72533877	G	A	72533877	2	1	435	1	0	0	0	0	0	0	0	1	11464	1074	38	1		1	PARP6	15	72533877	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	78245	72533877	29997515	6585	27510											
ARIH1	25820	broad.mit.edu	37	chr15	72855772	72855772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgtcctgccccagattGccaccatgttgttaaagtcc	7	12	10	12	0	0	1	0	0	0	1	2	1	2	1	6	1	2	2	6	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:72855772G>A	ENST00000379887.4	+	7	1156	c.842G>A	c.(841-843)tGc>tAc	p.C281Y		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	281					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						GCCCCAGATTGCCACCATGTT	0.418																																						ENST00000379887.4																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						c.(841-843)tGc>tAc		ariadne RBR E3 ubiquitin protein ligase 1							146	139	142					15																	72855772		2198	4297	6495	SO:0001583	missense	25820				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:72855772G>A	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"ariadne, Drosophila, homolog of"	605624	"ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1", "ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.842G>A	15.37:g.72855772G>A	ENSP00000369217:p.Cys281Tyr						p.C281Y	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN			7	1156	+			281					B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	37	c.842G>A	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231115	0.79688	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	D	0.99458	-5.93	5.75	4.82	0.62117	Zinc finger, C6HC-type (2);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	D	0.99789	0.9911	H	0.99169	4.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96549	0.9406	10	0.87932	D	0	.	16.8616	0.86020	0.0:0.1285:0.8715:0.0	.	281	Q9Y4X5	ARI1_HUMAN	Y	281;251	ENSP00000369217:C281Y	ENSP00000299305:C251Y	C	+	2	0	ARIH1	70642826	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.474000	0.97718	1.424000	0.47217	-0.325000	0.08501	TGC		0.418	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		42	51	0	0	0	1	0	42	51					A	72855772	G	A	72855772	3	1	435	1	0	0	0	0	1	0	0	0	923	1319	46	3	868	3	ARIH1	15	72855772	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	321895	72855772	29675620	6586	27511											
BBS4	585	broad.mit.edu	37	chr15	73029851	73029851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catcccagttcacaaagcccCcatctcttcctctggagcca	9	9	5	18	0	3	0	1	0	2	0	6	1	5	1	5	1	2	1	5	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:73029851C>T	ENST00000268057.4	+	16	1524	c.1483C>T	c.(1483-1485)Cca>Tca	p.P495S	BBS4_ENST00000539603.1_Missense_Mutation_p.P483S|BBS4_ENST00000395205.2_Missense_Mutation_p.P503S|BBS4_ENST00000542334.1_Missense_Mutation_p.P323S	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	495	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CACAAAGCCCCCATCTCTTCC	0.403									Bardet-Biedl syndrome																													ENST00000268057.4																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.(1483-1485)Cca>Tca		Bardet-Biedl syndrome 4							51	49	49					15																	73029851		2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	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	g.chr15:73029851C>T	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"Tetratricopeptide (TTC) repeat domain containing"	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1483C>T	15.37:g.73029851C>T	ENSP00000268057:p.Pro495Ser					BBS4_ENST00000539603.1_Missense_Mutation_p.P483S|BBS4_ENST00000395205.2_Missense_Mutation_p.P503S|BBS4_ENST00000542334.1_Missense_Mutation_p.P323S	p.P495S	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN			16	1524	+			495			Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.1483C>T	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609957	0.46527	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	T;T;T;T	0.74842	-0.75;-0.88;-0.88;-0.87	5.17	4.25	0.50352	.	0.226724	0.38605	N	0.001632	T	0.67581	0.2908	M	0.67953	2.075	0.46927	D	0.99925	P;P;B	0.35628	0.513;0.513;0.379	B;B;B	0.32533	0.147;0.147;0.07	T	0.63488	-0.6626	10	0.12766	T	0.61	-12.1593	12.0719	0.53622	0.0:0.9186:0.0:0.0814	.	483;503;495	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	S	323;495;483;503	ENSP00000445964:P323S;ENSP00000268057:P495S;ENSP00000442492:P483S;ENSP00000378631:P503S	ENSP00000268057:P495S	P	+	1	0	BBS4	70816904	0.990000	0.36364	0.937000	0.37676	0.979000	0.70002	5.009000	0.63998	1.309000	0.44985	0.655000	0.94253	CCA		0.403	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		3	18	0	0	0	1	0	3	18					T	73029851	C	T	73029851	3	4	435	1	0	0	0	0	1	0	0	0	1339	623	22	3	1545	3	BBS4	15	73029851	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	174079	73029851	29501541	6587	27512											
NEO1	4756	broad.mit.edu	37	chr15	73541550	73541550	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggggactgataaagaacagGtatgaagtgaagcaactttt	16	9	12	4	0	0	4	0	3	0	1	0	5	0	5	0	3	3	2	0	3	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:73541550G>A	ENST00000339362.5	+	11	2202		c.e11+1		NEO1_ENST00000560262.1_Splice_Site|NEO1_ENST00000560352.1_Splice_Site|NEO1_ENST00000558964.1_Splice_Site|NEO1_ENST00000261908.6_Splice_Site			Q92859	NEO1_HUMAN	neogenin 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TAAAGAACAGGTATGAAGTGA	0.383																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.e11+1		neogenin 1							63	65	64					15																	73541550		2198	4297	6495	SO:0001630	splice_region_variant	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73541550G>A	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1755+1G>A	15.37:g.73541550G>A						NEO1_ENST00000261908.6_Splice_Site|NEO1_ENST00000560262.1_Splice_Site|NEO1_ENST00000560352.1_Splice_Site|NEO1_ENST00000558964.1_Splice_Site				Q92859	NEO1_HUMAN			11	2202	+								B7ZKM9|B7ZKN0|O00340|Q17RX1	Splice_Site	SNP	ENST00000339362.5	37		CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703624	0.88924	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0691	0.93125	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEO1	71328603	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.484000	0.97940	2.601000	0.87937	0.650000	0.86243	.		0.383	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499	Intron	21	18	0	0	0	1	0	21	18					A	73541550	G	A	73541550	5	1	435	1	0	0	0	0	0	0	1	0	10336	1275	44	3	1794	3	NEO1	15	73541550	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	511699	73541550	28989842	6588	27513											
NEO1	4756	broad.mit.edu	37	chr15	73585754	73585754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattagtgcccatcccatcCattccctcgataaccctcac	9	11	4	17	1	1	1	1	1	0	0	5	2	4	1	5	0	2	0	5	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:73585754C>T	ENST00000339362.5	+	27	4213	c.3766C>T	c.(3766-3768)Cat>Tat	p.H1256Y	NEO1_ENST00000560262.1_Intron|NEO1_ENST00000558964.1_Missense_Mutation_p.H1245Y|NEO1_ENST00000261908.6_Missense_Mutation_p.H1256Y			Q92859	NEO1_HUMAN	neogenin 1	1256					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCATCCCATCCATTCCCTCGA	0.502																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(3766-3768)Cat>Tat		neogenin 1							297	241	260					15																	73585754		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73585754C>T	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3766C>T	15.37:g.73585754C>T	ENSP00000341198:p.His1256Tyr					NEO1_ENST00000261908.6_Missense_Mutation_p.H1256Y|NEO1_ENST00000560262.1_Intron|NEO1_ENST00000558964.1_Missense_Mutation_p.H1245Y	p.H1256Y			Q92859	NEO1_HUMAN			27	4213	+			1256					B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.3766C>T	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552421	0.86127	.	.	ENSG00000067141	ENST00000379842;ENST00000261908	T	0.47869	0.83	5.65	5.65	0.86999	Neogenin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62841	0.2461	M	0.63428	1.95	0.80722	D	1	D;D;D	0.71674	0.982;0.995;0.998	D;D;D	0.70227	0.925;0.953;0.968	T	0.55749	-0.8092	10	0.02654	T	1	-14.4154	20.0965	0.97849	0.0:1.0:0.0:0.0	.	1245;967;1256	B7ZKN0;E7EUX3;Q92859	.;.;NEO1_HUMAN	Y	967;1256	ENSP00000261908:H1256Y	ENSP00000261908:H1256Y	H	+	1	0	NEO1	71372807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.824000	0.97209	0.655000	0.94253	CAT		0.502	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		26	99	0	0	0	1	0	26	99					T	73585754	C	T	73585754	3	4	435	1	0	0	0	0	1	0	0	0	10336	594	21	3	3868	3	NEO1	15	73585754	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44204	73585754	28945638	6589	27514											
HCN4	10021	broad.mit.edu	37	chr15	73617515	73617515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catggaggccaccagcttccGacagttaaagttgatgatct	11	10	10	10	1	1	2	0	2	1	0	2	4	2	3	3	2	1	3	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:73617515G>A	ENST00000261917.3	-	6	2752	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	587					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		ACCAGCTTCCGACAGTTAAAG	0.607																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1759-1761)Cgg>Tgg		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							117	111	113					15																	73617515		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73617515G>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1759C>T	15.37:g.73617515G>A	ENSP00000261917:p.Arg587Trp						p.R587W	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	6	2752	-			587					Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.1759C>T	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400180	0.62177	.	.	ENSG00000138622	ENST00000261917	D	0.96940	-4.18	3.76	2.82	0.32997	Cyclic nucleotide-binding-like (1);	.	.	.	.	D	0.97807	0.9280	M	0.90425	3.115	0.80722	D	1	D	0.76494	0.999	P	0.60286	0.872	D	0.97925	1.0317	9	0.87932	D	0	.	12.3377	0.55077	0.0:0.0:0.8296:0.1704	.	587	Q9Y3Q4	HCN4_HUMAN	W	587	ENSP00000261917:R587W	ENSP00000261917:R587W	R	-	1	2	HCN4	71404568	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	6.454000	0.73493	0.760000	0.33108	0.561000	0.74099	CGG		0.607	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		28	45	0	0	0	1	0	28	45					A	73617515	G	A	73617515	3	1	435	1	0	0	0	0	1	0	0	0	6999	1057	37	2	1864	2	HCN4	15	73617515	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31761	73617515	28913877	6590	27515											
LOXL1	4016	broad.mit.edu	37	chr15	74241882	74241882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacattcactacacaggtcGctacgtttctgcaacaaact	13	10	5	13	2	2	0	1	0	1	0	3	0	2	0	0	1	6	3	0	1	5	4	rs557975431		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:74241882G>A	ENST00000261921.7	+	6	2011	c.1685G>A	c.(1684-1686)cGc>cAc	p.R562H	LOXL1_ENST00000567675.1_Intron	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	562	Lysyl-oxidase like.				extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						TACACAGGTCGCTACGTTTCT	0.507													G|||	1	0.000199681	0	0	5008	,	,		23295	0		0	False		,,,				2504	0.001					ENST00000261921.7																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1684-1686)cGc>cAc		lysyl oxidase-like 1							177	157	164					15																	74241882		2198	4297	6495	SO:0001583	missense	4016				protein deamination	extracellular space	copper ion binding	g.chr15:74241882G>A	L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.1685G>A	15.37:g.74241882G>A	ENSP00000261921:p.Arg562His					LOXL1_ENST00000567675.1_Intron	p.R562H	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN			6	2011	+			562			Lysyl-oxidase like.		Q6NUL3|Q96BW7	Missense_Mutation	SNP	ENST00000261921.7	37	c.1685G>A	CCDS10253.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755335	0.69648	.	.	ENSG00000129038	ENST00000261921;ENST00000395162	T	0.29917	1.55	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.28599	0.0708	N	0.03268	-0.37	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.09684	-1.0663	10	0.05620	T	0.96	.	16.9156	0.86150	0.0:0.0:1.0:0.0	.	562	Q08397	LOXL1_HUMAN	H	562;424	ENSP00000261921:R562H	ENSP00000261921:R562H	R	+	2	0	LOXL1	72028935	1.000000	0.71417	0.994000	0.49952	0.643000	0.38383	5.583000	0.67484	2.318000	0.78349	0.563000	0.77884	CGC		0.507	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576		13	81	0	0	0	1	0	13	81					A	74241882	G	A	74241882	3	1	435	1	0	0	0	0	1	0	0	0	8899	1087	38	1	1707	1	LOXL1	15	74241882	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	624367	74241882	28289510	6591	27516											
STOML1	9399	broad.mit.edu	37	chr15	74281124	74281124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctcccacggacagcacaGccccgtccttagaggccagc	8	4	11	18	3	0	1	0	0	0	1	2	2	2	2	5	3	3	2	5	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:74281124G>A	ENST00000316900.5	-	4	534	c.410C>T	c.(409-411)gCt>gTt	p.A137V	STOML1_ENST00000564777.1_Missense_Mutation_p.A87V|STOML1_ENST00000541638.1_Missense_Mutation_p.A95V|STOML1_ENST00000316911.6_Missense_Mutation_p.A87V|STOML1_ENST00000561656.1_Missense_Mutation_p.A50V|STOML1_ENST00000359750.4_Missense_Mutation_p.A137V	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	137						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GGACAGCACAGCCCCGTCCTT	0.632																																						ENST00000316900.5																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(409-411)gCt>gTt		stomatin (EPB72)-like 1							82	78	79					15																	74281124		2198	4297	6495	SO:0001583	missense	9399					integral to membrane	sterol binding	g.chr15:74281124G>A	Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"stomatin-like 1", "stomatin (EBP72)-like 1"	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.410C>T	15.37:g.74281124G>A	ENSP00000319323:p.Ala137Val					STOML1_ENST00000564777.1_Missense_Mutation_p.A87V|STOML1_ENST00000541638.1_Missense_Mutation_p.A95V|STOML1_ENST00000359750.4_Missense_Mutation_p.A137V|STOML1_ENST00000316911.6_Missense_Mutation_p.A87V|STOML1_ENST00000561656.1_Missense_Mutation_p.A50V	p.A137V	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN			4	534	-			137					B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	ENST00000316900.5	37	c.410C>T	CCDS10254.1	.	.	.	.	.	.	.	.	.	.	G	8.633	0.894233	0.17613	.	.	ENSG00000067221	ENST00000316900;ENST00000316911;ENST00000541638;ENST00000359750	D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35	4.34	4.34	0.51931	.	0.162221	0.53938	D	0.000041	T	0.79799	0.4508	N	0.01235	-0.94	0.44694	D	0.997682	P;P;P;P;P;P	0.40398	0.536;0.716;0.48;0.716;0.536;0.536	B;B;B;B;B;B	0.41374	0.134;0.288;0.35;0.288;0.134;0.355	T	0.79536	-0.1763	10	0.16896	T	0.51	-4.165	9.3902	0.38367	0.0982:0.0:0.9018:0.0	.	95;137;87;137;137;137	B4DUU5;E7ESC0;Q9UBI4-2;Q4PNR4;Q53HB6;Q9UBI4	.;.;.;.;.;STML1_HUMAN	V	137;87;95;137	ENSP00000319323:A137V;ENSP00000319384:A87V;ENSP00000442478:A95V;ENSP00000352788:A137V	ENSP00000319323:A137V	A	-	2	0	STOML1	72068177	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	4.960000	0.63673	2.250000	0.74265	0.655000	0.94253	GCT		0.632	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269022.1	NM_004809		15	38	0	0	0	1	0	15	38					A	74281124	G	A	74281124	3	1	435	1	0	0	0	0	1	0	0	0	15312	971	34	3	802	3	STOML1	15	74281124	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	39242	74281124	28250268	6592	27517											
ISLR2	57611	broad.mit.edu	37	chr15	74425163	74425163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggatcatgcccggagcCgtgcgcctgcgtggacaagt	6	6	16	13	5	1	0	1	0	0	0	1	3	1	3	4	4	4	0	4	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:74425163C>T	ENST00000361742.3	+	4	837	c.68C>T	c.(67-69)cCg>cTg	p.P23L	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.P23L|ISLR2_ENST00000565540.1_Missense_Mutation_p.P23L|ISLR2_ENST00000435464.1_Missense_Mutation_p.P23L|ISLR2_ENST00000453268.2_Missense_Mutation_p.P23L|ISLR2_ENST00000419208.1_Missense_Mutation_p.P23L|ISLR2_ENST00000445793.1_Missense_Mutation_p.P23L	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	23	LRRNT.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TGCCCGGAGCCGTGCGCCTGC	0.627																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(67-69)cCg>cTg		immunoglobulin superfamily containing leucine-rich repeat 2							63	57	59					15																	74425163		2198	4297	6495	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425163C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.68C>T	15.37:g.74425163C>T	ENSP00000355402:p.Pro23Leu					ISLR2_ENST00000565540.1_Missense_Mutation_p.P23L|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000419208.1_Missense_Mutation_p.P23L|ISLR2_ENST00000435464.1_Missense_Mutation_p.P23L|ISLR2_ENST00000445793.1_Missense_Mutation_p.P23L|ISLR2_ENST00000453268.2_Missense_Mutation_p.P23L|ISLR2_ENST00000565159.1_Missense_Mutation_p.P23L	p.P23L	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	837	+			23			LRRNT.		A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.68C>T	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	C	4.719	0.133618	0.09032	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	4.8	3.86	0.44501	Leucine-rich repeat-containing N-terminal (1);	0.337558	0.28589	N	0.014806	T	0.38268	0.1034	L	0.29908	0.895	0.58432	D	0.999992	B	0.27882	0.192	B	0.18871	0.023	T	0.11792	-1.0573	10	0.22109	T	0.4	.	14.2007	0.65703	0.1509:0.849:0.0:0.0	.	23	Q6UXK2	ISLR2_HUMAN	L	23	ENSP00000403244:P23L;ENSP00000355402:P23L;ENSP00000411443:P23L;ENSP00000411834:P23L;ENSP00000408872:P23L	ENSP00000355402:P23L	P	+	2	0	ISLR2	72212216	0.909000	0.30893	0.913000	0.36048	0.438000	0.31896	1.801000	0.38843	0.984000	0.38629	0.407000	0.27541	CCG		0.627	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		20	27	0	0	0	1	0	20	27					T	74425163	C	T	74425163	3	4	435	1	0	0	0	0	1	0	0	0	7859	652	23	2	70	2	ISLR2	15	74425163	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	144039	74425163	28106229	6593	27518											
ISLR2	57611	broad.mit.edu	37	chr15	74427292	74427292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgaggcggtcaacatcGcccaggagattaatggcaac	11	5	13	12	4	1	1	1	0	0	1	2	3	1	1	2	4	2	1	2	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:74427292G>A	ENST00000361742.3	+	4	2966	c.2197G>A	c.(2197-2199)Gcc>Acc	p.A733T	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.A733T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A733T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A733T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A733T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A733T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A733T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	733					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGTCAACATCGCCCAGGAGAT	0.657											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(2197-2199)Gcc>Acc		immunoglobulin superfamily containing leucine-rich repeat 2							42	47	45					15																	74427292		2197	4296	6493	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74427292G>A		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.2197G>A	15.37:g.74427292G>A	ENSP00000355402:p.Ala733Thr		OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1152	ISLR2_ENST00000565540.1_Missense_Mutation_p.A733T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000419208.1_Missense_Mutation_p.A733T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A733T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A733T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A733T|ISLR2_ENST00000565159.1_Missense_Mutation_p.A733T	p.A733T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	2966	+			733					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.2197G>A	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.393976	0.62066	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	4.69	3.77	0.43336	.	0.260709	0.32459	U	0.006071	T	0.32704	0.0838	L	0.27053	0.805	0.35744	D	0.818875	P	0.35401	0.499	B	0.26693	0.072	T	0.43686	-0.9376	10	0.72032	D	0.01	.	6.7486	0.23475	0.0939:0.0:0.7304:0.1757	.	733	Q6UXK2	ISLR2_HUMAN	T	733;733;733;733;322;733	ENSP00000403244:A733T;ENSP00000355402:A733T;ENSP00000411443:A733T;ENSP00000411834:A733T;ENSP00000408872:A733T	ENSP00000355402:A733T	A	+	1	0	ISLR2	72214345	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	3.513000	0.53414	0.951000	0.37770	0.313000	0.20887	GCC		0.657	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		11	16	0	0	0	1	0	11	16					A	74427292	G	A	74427292	3	1	435	1	0	0	0	0	1	0	0	0	7859	1087	38	1	2199	1	ISLR2	15	74427292	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2129	74427292	28104100	6594	27519											
ISLR	3671	broad.mit.edu	37	chr15	74467314	74467314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcgccgactgtgcctacCgcgacctagaatccgtgccg	8	7	11	15	6	0	2	0	0	0	2	2	4	1	2	6	0	3	0	6	0	3	2	rs199657194	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:74467314C>T	ENST00000249842.3	+	2	472	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	ISLR_ENST00000395118.1_Missense_Mutation_p.R39C|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	39	LRRNT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CTGTGCCTACCGCGACCTAGA	0.647																																						ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(115-117)Cgc>Tgc		immunoglobulin superfamily containing leucine-rich repeat							65	57	60					15																	74467314		2198	4297	6495	SO:0001583	missense	3671				cell adhesion	extracellular region		g.chr15:74467314C>T	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.115C>T	15.37:g.74467314C>T	ENSP00000249842:p.Arg39Cys					RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.R39C	p.R39C	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	472	+			39			LRRNT.			Missense_Mutation	SNP	ENST00000249842.3	37	c.115C>T	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966907	0.53507	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.48201	0.82;0.82	4.05	1.92	0.25849	Leucine-rich repeat-containing N-terminal (1);	0.146929	0.25526	U	0.030067	T	0.59972	0.2233	M	0.87038	2.855	0.46564	D	0.999101	D	0.76494	0.999	P	0.50490	0.642	T	0.69206	-0.5206	10	0.72032	D	0.01	.	11.9881	0.53159	0.5194:0.4806:0.0:0.0	.	39	O14498	ISLR_HUMAN	C	39	ENSP00000249842:R39C;ENSP00000378550:R39C	ENSP00000249842:R39C	R	+	1	0	ISLR	72254367	1.000000	0.71417	0.859000	0.33776	0.566000	0.35808	2.941000	0.49011	0.670000	0.31165	0.313000	0.20887	CGC		0.647	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		19	29	0	0	0	1	0	19	29					T	74467314	C	T	74467314	3	4	435	1	0	0	0	0	1	0	0	0	7858	652	23	2	117	2	ISLR	15	74467314	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	40022	74467314	28064078	6595	27520											
CYP11A1	1583	broad.mit.edu	37	chr15	74631983	74631983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccagctgtagcatcgtggCcatgtctccctgggcctggt	5	10	13	13	1	1	0	0	0	1	0	3	1	1	0	4	3	2	3	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:74631983C>T	ENST00000268053.6	-	6	1256	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T	CYP11A1_ENST00000419019.2_Missense_Mutation_p.A210T|CYP11A1_ENST00000358632.4_Missense_Mutation_p.A210T	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	368					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			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)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	AGCATCGTGGCCATGTCTCCC	0.617																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000358632.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(628-630)Gcc>Acc		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						141	107	118					15																	74631983		2197	4296	6493	SO:0001583	missense	1583				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	g.chr15:74631983C>T	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1102G>A	15.37:g.74631983C>T	ENSP00000268053:p.Ala368Thr					CYP11A1_ENST00000268053.6_Missense_Mutation_p.A368T|CYP11A1_ENST00000419019.2_Missense_Mutation_p.A210T	p.A210T	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN			6	1323	-			368					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.628G>A	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	C	0.419	-0.909256	0.02434	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	T;T;T	0.68479	-0.33;-0.33;-0.33	4.46	-2.18	0.07037	.	1.639610	0.03463	N	0.212448	T	0.43986	0.1272	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18587	-1.0332	10	0.13853	T	0.58	-21.6944	6.2027	0.20585	0.0:0.3677:0.2332:0.3991	.	368	P05108	CP11A_HUMAN	T	368;210;210;133	ENSP00000268053:A368T;ENSP00000351455:A210T;ENSP00000405488:A210T	ENSP00000268053:A368T	A	-	1	0	CYP11A1	72419036	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.011000	0.12721	-0.574000	0.05990	-0.326000	0.08463	GCC		0.617	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			7	10	0	0	0	1	0	7	10					T	74631983	C	T	74631983	3	4	435	1	0	0	0	0	1	0	0	0	4144	739	26	3	479	3	CYP11A1	15	74631983	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	164669	74631983	27899409	6596	27521											
SEMA7A	8482	broad.mit.edu	37	chr15	74703066	74703066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgctcggccatgatgcCgtcctcgggcagcagctgcc	5	7	14	15	3	0	1	0	1	0	0	3	1	1	1	4	3	5	4	4	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:74703066C>T	ENST00000261918.4	-	14	2448	c.1900G>A	c.(1900-1902)Ggc>Agc	p.G634S	SEMA7A_ENST00000543145.2_Missense_Mutation_p.G620S|SEMA7A_ENST00000542748.1_Missense_Mutation_p.G469S	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	634					axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GCCATGATGCCGTCCTCGGGC	0.667																																						ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(1900-1902)Ggc>Agc		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							42	43	42					15																	74703066		2197	4296	6493	SO:0001583	missense	8482				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	g.chr15:74703066C>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1900G>A	15.37:g.74703066C>T	ENSP00000261918:p.Gly634Ser					SEMA7A_ENST00000543145.2_Missense_Mutation_p.G620S|SEMA7A_ENST00000542748.1_Missense_Mutation_p.G469S	p.G634S	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			14	2448	-			634					B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.1900G>A	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.536148	0.00942	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.19105	2.17;2.17;2.36	3.83	-0.584	0.11702	.	1.181870	0.06178	N	0.678990	T	0.08403	0.0209	N	0.08118	0	0.09310	N	1	B;B	0.21905	0.062;0.037	B;B	0.13407	0.009;0.004	T	0.31336	-0.9947	10	0.06365	T	0.9	-4.5522	5.6118	0.17410	0.0:0.2176:0.4463:0.3361	.	620;634	F5H1S0;O75326	.;SEM7A_HUMAN	S	634;620;469	ENSP00000261918:G634S;ENSP00000438966:G620S;ENSP00000441493:G469S	ENSP00000261918:G634S	G	-	1	0	SEMA7A	72490119	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.780000	0.04654	0.013000	0.14918	0.555000	0.69702	GGC		0.667	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		14	12	0	0	0	1	0	14	12					T	74703066	C	T	74703066	3	4	435	1	0	0	0	0	1	0	0	0	14043	652	23	2	104	2	SEMA7A	15	74703066	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	71083	74703066	27828326	6597	27522											
ARID3B	10620	broad.mit.edu	37	chr15	74883635	74883635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttggctactcacctgctgCggctactgctgctgccgctg	3	12	11	15	2	1	0	1	0	0	0	1	0	1	0	2	2	7	6	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:74883635C>T	ENST00000346246.5	+	6	1256	c.1025C>T	c.(1024-1026)gCg>gTg	p.A342V		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	342	Interaction with RB1.|Poly-Ala.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						TCACCTGCTGCGGCTACTGCT	0.647																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1024-1026)gCg>gTg		AT rich interactive domain 3B (BRIGHT-like)							39	50	46					15																	74883635		2164	4241	6405	SO:0001583	missense	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74883635C>T		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1025C>T	15.37:g.74883635C>T	ENSP00000343126:p.Ala342Val						p.A342V	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			6	1256	+			342			Interaction with RB1.|Poly-Ala.		O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	c.1025C>T	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174168	0.38413	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.48522	0.81	3.76	3.76	0.43208	.	0.579508	0.14858	N	0.294253	T	0.29028	0.0721	N	0.22421	0.69	0.09310	N	1	P;P;P	0.43287	0.614;0.702;0.802	B;B;B	0.32090	0.057;0.066;0.14	T	0.16808	-1.0390	10	0.49607	T	0.09	-2.4592	11.3852	0.49780	0.0:1.0:0.0:0.0	.	342;342;342	B4DXL8;Q8IVW6;Q8IVW6-4	.;ARI3B_HUMAN;.	V	342	ENSP00000343126:A342V	ENSP00000343126:A342V	A	+	2	0	ARID3B	72670688	0.059000	0.20769	0.078000	0.20375	0.307000	0.27823	2.481000	0.45215	2.410000	0.81850	0.655000	0.94253	GCG		0.647	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		48	58	0	0	0	1	0	48	58					T	74883635	C	T	74883635	3	4	435	1	0	0	0	0	1	0	0	0	917	768	27	1	1043	1	ARID3B	15	74883635	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	180569	74883635	27647757	6598	27523											
CLK3	1198	broad.mit.edu	37	chr15	74914554	74914554	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggcgattggctccaagagCgatgtacagccacctttcgt	8	10	11	12	4	0	1	0	0	0	1	3	3	1	1	3	2	3	2	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:74914554C>T	ENST00000395066.3	+	4	1368	c.907C>T	c.(907-909)Cga>Tga	p.R303*	CLK3_ENST00000348245.3_Intron|CLK3_ENST00000345005.4_Nonsense_Mutation_p.R155*|CLK3_ENST00000352989.5_Nonsense_Mutation_p.R155*	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	303					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GCTCCAAGAGCGATGTACAGC	0.567																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(907-909)Cga>Tga		CDC-like kinase 3							127	105	112					15																	74914554		2197	4296	6493	SO:0001587	stop_gained	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74914554C>T	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"CDC-like kinases"	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.907C>T	15.37:g.74914554C>T	ENSP00000378505:p.Arg303*					CLK3_ENST00000352989.5_Nonsense_Mutation_p.R155*|CLK3_ENST00000348245.3_Intron|CLK3_ENST00000345005.4_Nonsense_Mutation_p.R155*	p.R303*	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN			4	1368	+			303					D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Nonsense_Mutation	SNP	ENST00000395066.3	37	c.907C>T	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681748	0.88542	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	.	.	.	5.46	5.46	0.80206	.	0.000000	0.48767	D	0.000167	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3154	0.94211	0.0:1.0:0.0:0.0	.	.	.	.	X	155;155;303;155	.	ENSP00000344112:R155X	R	+	1	2	CLK3	72701607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.263000	0.51546	2.559000	0.86315	0.655000	0.94253	CGA		0.567	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			14	15	0	0	0	1	0	14	15					T	74914554	C	T	74914554	4	4	435	1	0	0	0	0	0	1	0	0	3538	760	27	1	921	1	CLK3	15	74914554	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30919	74914554	27616838	6599	27524											
CSK	1445	broad.mit.edu	37	chr15	75091727	75091727	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggagactacacgctgtgCgtgagctgcgacggcaaggt	8	6	15	12	5	0	2	0	1	0	1	0	4	0	2	1	3	4	3	1	3	2	1	rs551800678		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75091727C>T	ENST00000220003.9	+	5	1086	c.357C>T	c.(355-357)tgC>tgT	p.C119C	CSK_ENST00000439220.2_Silent_p.C119C|CSK_ENST00000309470.9_Silent_p.C119C|CSK_ENST00000567571.1_Silent_p.C119C	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	119	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						ACACGCTGTGCGTGAGCTGCG	0.607																																						ENST00000220003.9																			0				central_nervous_system(1)|lung(2)	3						c.(355-357)tgC>tgT		c-src tyrosine kinase							74	58	63					15																	75091727		2197	4296	6493	SO:0001819	synonymous_variant	1445				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	g.chr15:75091727C>T		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"SH2 domain containing"	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.357C>T	15.37:g.75091727C>T						CSK_ENST00000567571.1_Silent_p.C119C|CSK_ENST00000439220.2_Silent_p.C119C|CSK_ENST00000309470.9_Silent_p.C119C	p.C119C	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN			5	1086	+			119			SH2.		Q2M3N2|Q6FGZ6	Silent	SNP	ENST00000220003.9	37	c.357C>T	CCDS10269.1																																																																																				0.607	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383		4	21	0	0	0	1	0	4	21					T	75091727	C	T	75091727	2	4	435	1	0	0	0	0	0	0	0	1	3943	776	27	1		1	CSK	15	75091727	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	177173	75091727	27439665	6600	27525											
LMAN1L	79748	broad.mit.edu	37	chr15	75117858	75117858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaggagtgtctgtccacagGcagccttcctctgggtcctg	5	11	12	13	0	3	0	1	0	2	0	6	1	6	1	4	3	1	1	4	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75117858G>A	ENST00000309664.5	+	14	1632	c.1493G>A	c.(1492-1494)gGc>gAc	p.G498D	CPLX3_ENST00000395018.4_5'Flank|LMAN1L_ENST00000379709.3_Missense_Mutation_p.G486D|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	498						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGTCCACAGGCAGCCTTCCT	0.587																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1492-1494)gGc>gAc		lectin, mannose-binding, 1 like							136	143	141					15																	75117858		2197	4295	6492	SO:0001583	missense	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75117858G>A	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1493G>A	15.37:g.75117858G>A	ENSP00000310431:p.Gly498Asp					RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Missense_Mutation_p.G486D	p.G498D	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			14	1632	+			498					Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	c.1493G>A	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	2.887	-0.230441	0.05983	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.44083	0.98;0.93	3.79	1.58	0.23477	.	1.360560	0.05009	N	0.470623	T	0.41650	0.1168	L	0.42245	1.32	0.09310	N	1	P;P	0.40180	0.705;0.58	B;B	0.44044	0.439;0.254	T	0.34950	-0.9808	10	0.52906	T	0.07	.	6.4249	0.21764	0.2572:0.0:0.7428:0.0	.	486;498	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	D	498;486	ENSP00000310431:G498D;ENSP00000369031:G486D	ENSP00000310431:G498D	G	+	2	0	LMAN1L	72904911	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.437000	0.21543	0.423000	0.26033	0.561000	0.74099	GGC		0.587	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			45	107	0	0	0	1	0	45	107					A	75117858	G	A	75117858	3	1	435	1	0	0	0	0	1	0	0	0	8837	1203	42	3	1547	3	LMAN1L	15	75117858	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26131	75117858	27413534	6601	27526											
ULK3	25989	broad.mit.edu	37	chr15	75134652	75134652	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgcacaatgtggggaTgtcgaatgcccttgaggatc	9	10	13	9	1	1	1	1	1	0	0	3	4	1	3	1	3	3	2	1	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75134652T>C	ENST00000440863.2	-	2	303	c.212A>G	c.(211-213)cAt>cGt	p.H71R	ULK3_ENST00000568667.1_Missense_Mutation_p.H82R|ULK3_ENST00000569437.1_Missense_Mutation_p.H71R	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	71	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						AATGTGGGGATGTCGAATGCC	0.557																																						ENST00000440863.2																			0				breast(2)	2						c.(211-213)cAt>cGt		unc-51 like kinase 3							149	146	147					15																	75134652		2006	4170	6176	SO:0001583	missense	25989					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:75134652T>C	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"unc-51-like kinase 3 (C. elegans)"				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.212A>G	15.37:g.75134652T>C	ENSP00000400312:p.His71Arg					ULK3_ENST00000568667.1_Missense_Mutation_p.H82R|ULK3_ENST00000569437.1_Missense_Mutation_p.H71R	p.H71R	NM_001099436.1	NP_001092906.1	Q6PHR2	ULK3_HUMAN			2	303	-			71			Protein kinase.		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	ENST00000440863.2	37	c.212A>G	CCDS45305.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483988	0.84854	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.78481	-1.18	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91610	0.7349	H	0.96365	3.81	0.54753	D	0.999982	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.982	D	0.94080	0.7343	10	0.87932	D	0	-13.9814	14.4989	0.67707	0.0:0.0:0.0:1.0	.	82;71;71	B4DFT0;Q6PHR2;Q6PHR2-3	.;ULK3_HUMAN;.	R	71;82	ENSP00000400312:H71R	ENSP00000393658:H82R	H	-	2	0	ULK3	72921705	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.996000	0.70639	2.020000	0.59435	0.533000	0.62120	CAT		0.557	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518		27	28	0	0	0	1	0	27	28					C	75134652	T	C	75134652	3	2	435	1	0	0	0	0	1	0	0	0	16974	1464	51	4	1266	4	ULK3	15	75134652	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	16794	75134652	27396740	6602	27527											
SCAMP2	10066	broad.mit.edu	37	chr15	75146410	75146410	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggctggagaaccgctggCtgtgaggacccagggagttg	8	7	18	8	1	0	2	0	1	0	1	0	6	0	4	2	5	1	4	2	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75146410C>T	ENST00000268099.9	-	3	286	c.177G>A	c.(175-177)caG>caA	p.Q59Q		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	59					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						GAACCGCTGGCTGTGAGGACC	0.527																																						ENST00000268099.9																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						c.(175-177)caG>caA		secretory carrier membrane protein 2							119	109	113					15																	75146410		2197	4295	6492	SO:0001819	synonymous_variant	10066				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding	g.chr15:75146410C>T	AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"Secretory carrier membrane proteins"	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.177G>A	15.37:g.75146410C>T							p.Q59Q	NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN			3	286	-			59					B2RDF0|Q9BQE8	Silent	SNP	ENST00000268099.9	37	c.177G>A	CCDS10271.1																																																																																				0.527	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3	NM_005697		15	17	0	0	0	1	0	15	17					T	75146410	C	T	75146410	2	4	435	1	0	0	0	0	0	0	0	1	13871	796	28	3		3	SCAMP2	15	75146410	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11758	75146410	27384982	6603	27528											
COMMD4	54939	broad.mit.edu	37	chr15	75632054	75632054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atctcacagtgaataggttgGcaggtgtgggctggcgggtg	7	10	18	6	1	1	1	1	1	1	0	2	1	1	1	0	6	0	3	0	6	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75632054G>A	ENST00000267935.8	+	7	593	c.394G>A	c.(394-396)Gca>Aca	p.A132T	COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000562789.1_Intron|COMMD4_ENST00000564815.1_Missense_Mutation_p.A110T|COMMD4_ENST00000338995.6_Intron	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	132	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.					cytoplasm (GO:0005737)				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						GAATAGGTTGGCAGGTGTGGG	0.617																																						ENST00000267935.8																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						c.(394-396)Gca>Aca		COMM domain containing 4							29	32	31					15																	75632054		2197	4294	6491	SO:0001583	missense	54939					cytoplasm	protein binding	g.chr15:75632054G>A	AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			ENSG00000140365	ENSG00000140365			26027	protein-coding gene	gene with protein product						15799966	Standard	XM_005254511		Approved	FLJ20452	uc002azy.3	Q9H0A8	OTTHUMG00000142823	ENST00000267935.8:c.394G>A	15.37:g.75632054G>A	ENSP00000267935:p.Ala132Thr					COMMD4_ENST00000338995.6_Intron|COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000562789.1_Intron|COMMD4_ENST00000564815.1_Missense_Mutation_p.A110T	p.A132T	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN			7	593	+			132			COMM.		B2RBN4|H3BUL2|Q7L637|Q9NX43	Missense_Mutation	SNP	ENST00000267935.8	37	c.394G>A	CCDS10277.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297356	0.23650	.	.	ENSG00000140365	ENST00000267935	T	0.08984	3.03	4.79	2.9	0.33743	COMM domain (1);	0.589445	0.18064	N	0.152844	T	0.04998	0.0134	N	0.14661	0.345	0.80722	D	1	B	0.19817	0.039	B	0.27380	0.079	T	0.39702	-0.9601	10	0.14252	T	0.57	.	8.5105	0.33215	0.1842:0.0:0.8158:0.0	.	132	Q9H0A8	COMD4_HUMAN	T	132	ENSP00000267935:A132T	ENSP00000267935:A132T	A	+	1	0	COMMD4	73419107	1.000000	0.71417	0.959000	0.39883	0.652000	0.38707	3.683000	0.54663	0.455000	0.26910	-0.156000	0.13503	GCA		0.617	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286414.1	NM_017828		9	13	0	0	0	1	0	9	13					A	75632054	G	A	75632054	3	1	435	1	0	0	0	0	1	0	0	0	3718	1203	42	3	420	3	COMMD4	15	75632054	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	485644	75632054	26899338	6604	27529											
NEIL1	79661	broad.mit.edu	37	chr15	75646188	75646188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccctgcaggaccggcatgGccgtaccatctggttccagg	6	8	12	15	2	1	0	0	0	1	0	3	1	3	1	5	5	2	4	5	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75646188G>A	ENST00000564784.1	+	7	1456	c.827G>A	c.(826-828)gGc>gAc	p.G276D	NEIL1_ENST00000355059.4_Missense_Mutation_p.G276D|RP11-817O13.6_ENST00000563660.1_lincRNA|NEIL1_ENST00000569035.1_Missense_Mutation_p.G276D|MIR631_ENST00000384904.1_RNA			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	276					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						GACCGGCATGGCCGTACCATC	0.622								Base excision repair (BER), DNA glycosylases																														ENST00000564784.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						c.(826-828)gGc>gAc	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 1 (E. coli)							80	84	83					15																	75646188		2197	4294	6491	SO:0001583	missense	79661				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	g.chr15:75646188G>A	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.827G>A	15.37:g.75646188G>A	ENSP00000457352:p.Gly276Asp					NEIL1_ENST00000569035.1_Missense_Mutation_p.G276D|NEIL1_ENST00000355059.4_Missense_Mutation_p.G276D	p.G276D			Q96FI4	NEIL1_HUMAN			7	1456	+			276					D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Missense_Mutation	SNP	ENST00000564784.1	37	c.827G>A	CCDS10278.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258609	0.80246	.	.	ENSG00000140398	ENST00000355059	T	0.59083	0.29	5.09	5.09	0.68999	Endonuclease VIII-like 1, DNA binding (1);	0.093472	0.64402	D	0.000001	T	0.70570	0.3239	L	0.59436	1.845	0.54753	D	0.999988	D	0.76494	0.999	D	0.70016	0.967	T	0.72921	-0.4145	10	0.66056	D	0.02	-24.1632	12.9441	0.58364	0.0813:0.0:0.9187:0.0	.	276	Q96FI4	NEIL1_HUMAN	D	276	ENSP00000347170:G276D	ENSP00000347170:G276D	G	+	2	0	NEIL1	73433241	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.694000	0.74587	2.375000	0.81037	0.561000	0.74099	GGC		0.622	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608		40	75	0	0	0	1	0	40	75					A	75646188	G	A	75646188	3	1	435	1	0	0	0	0	1	0	0	0	10318	1203	42	3	845	3	NEIL1	15	75646188	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14134	75646188	26885204	6605	27530											
MAN2C1	4123	broad.mit.edu	37	chr15	75648457	75648457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaccgccactcacaggatgGcctcctgaaccggcagcgac	10	4	10	17	3	1	1	1	1	0	0	2	3	2	2	5	3	2	1	5	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75648457G>A	ENST00000267978.5	-	25	3036	c.2990C>T	c.(2989-2991)gCc>gTc	p.A997V	RP11-817O13.6_ENST00000563660.1_lincRNA|MIR631_ENST00000384904.1_RNA|MAN2C1_ENST00000563622.1_Missense_Mutation_p.A898V|MAN2C1_ENST00000569482.1_Missense_Mutation_p.A974V|MAN2C1_ENST00000565683.1_Missense_Mutation_p.A1014V	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	997					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TCACAGGATGGCCTCCTGAAC	0.672																																						ENST00000565683.1																			0				central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(3040-3042)gCc>gTc		mannosidase, alpha, class 2C, member 1							28	33	31					15																	75648457		2197	4291	6488	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75648457G>A	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2990C>T	15.37:g.75648457G>A	ENSP00000267978:p.Ala997Val					MAN2C1_ENST00000563622.1_Missense_Mutation_p.A898V|MAN2C1_ENST00000569482.1_Missense_Mutation_p.A974V|MAN2C1_ENST00000267978.5_Missense_Mutation_p.A997V	p.A1014V	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN			25	3052	-			997					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.3041C>T	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	G	5.015	0.188521	0.09547	.	.	ENSG00000140400	ENST00000267978	T	0.77489	-1.1	5.07	5.07	0.68467	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.056682	0.64402	D	0.000001	T	0.53270	0.1786	N	0.11131	0.1	0.48901	D	0.999721	B;B	0.26577	0.153;0.033	B;B	0.20577	0.03;0.03	T	0.54316	-0.8312	10	0.02654	T	1	-19.6781	10.6349	0.45558	0.0894:0.0:0.9106:0.0	.	974;997	Q68EM8;Q9NTJ4	.;MA2C1_HUMAN	V	997	ENSP00000267978:A997V	ENSP00000267978:A997V	A	-	2	0	MAN2C1	73435510	1.000000	0.71417	0.923000	0.36655	0.615000	0.37417	6.314000	0.72848	2.376000	0.81061	0.462000	0.41574	GCC		0.672	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			11	6	0	0	0	1	0	11	6					A	75648457	G	A	75648457	3	1	435	1	0	0	0	0	1	0	0	0	9218	1203	42	3	140	3	MAN2C1	15	75648457	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2269	75648457	26882935	6606	27531											
MAN2C1	4123	broad.mit.edu	37	chr15	75648507	75648507	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtccacgtggctgccGtgggcctcatacagcctcag	7	7	12	15	2	2	0	2	0	0	0	3	0	3	0	4	2	4	2	4	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75648507G>A	ENST00000267978.5	-	25	2986	c.2940C>T	c.(2938-2940)caC>caT	p.H980H	RP11-817O13.6_ENST00000563660.1_lincRNA|MIR631_ENST00000384904.1_RNA|MAN2C1_ENST00000563622.1_Silent_p.H881H|MAN2C1_ENST00000569482.1_Silent_p.H957H|MAN2C1_ENST00000565683.1_Silent_p.H997H	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	980					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CGTGGCTGCCGTGGGCCTCAT	0.692																																						ENST00000565683.1																			0				central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(2989-2991)caC>caT		mannosidase, alpha, class 2C, member 1							25	28	27					15																	75648507		2197	4293	6490	SO:0001819	synonymous_variant	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75648507G>A	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2940C>T	15.37:g.75648507G>A						MAN2C1_ENST00000563622.1_Silent_p.H881H|MAN2C1_ENST00000569482.1_Silent_p.H957H|MAN2C1_ENST00000267978.5_Silent_p.H980H	p.H997H	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN			25	3002	-			980					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Silent	SNP	ENST00000267978.5	37	c.2991C>T	CCDS32298.1																																																																																				0.692	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			5	15	0	0	0	1	0	5	15					A	75648507	G	A	75648507	2	1	435	1	0	0	0	0	0	0	0	1	9218	1136	40	1		1	MAN2C1	15	75648507	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	50	75648507	26882885	6607	27532											
SIN3A	25942	broad.mit.edu	37	chr15	75722710	75722710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggtcatccaaacgccGcttcattctgtgctcatgct	6	13	7	15	2	4	0	3	0	1	0	6	0	6	0	3	1	3	3	3	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75722710G>A	ENST00000394947.3	-	2	321	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	SIN3A_ENST00000567289.1_Missense_Mutation_p.R3W|SIN3A_ENST00000394949.4_Missense_Mutation_p.R3W|SIN3A_ENST00000360439.4_Missense_Mutation_p.R3W	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											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						TCCAAACGCCGCTTCATTCTG	0.547																																						ENST00000394947.3																			0				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						c.(7-9)Cgg>Tgg		SIN3 transcription regulator family member A							54	47	49					15																	75722710		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75722710G>A	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.7C>T	15.37:g.75722710G>A	ENSP00000378402:p.Arg3Trp					SIN3A_ENST00000567289.1_Missense_Mutation_p.R3W|SIN3A_ENST00000360439.4_Missense_Mutation_p.R3W|SIN3A_ENST00000394949.4_Missense_Mutation_p.R3W	p.R3W	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			2	321	-			3						Missense_Mutation	SNP	ENST00000394947.3	37	c.7C>T	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834656	0.91036	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.53640	0.61;0.61;0.61	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67035	-0.5772	10	0.87932	D	0	-7.0329	18.3323	0.90274	0.0:0.0:1.0:0.0	.	3	Q96ST3	SIN3A_HUMAN	W	3	ENSP00000378402:R3W;ENSP00000378403:R3W;ENSP00000353622:R3W	ENSP00000353622:R3W	R	-	1	2	SIN3A	73509763	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.562000	0.73960	2.590000	0.87494	0.655000	0.94253	CGG		0.547	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		3	5	0	0	0	1	0	3	5					A	75722710	G	A	75722710	3	1	435	1	0	0	0	0	1	0	0	0	14325	1086	38	1	3894	1	SIN3A	15	75722710	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	74203	75722710	26808682	6608	27533											
PTPN9	5780	broad.mit.edu	37	chr15	75761284	75761284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattaagggtgccaagctcCtccagctgtgccaggcagat	10	8	11	12	0	0	1	0	0	0	1	2	1	2	1	4	2	4	3	4	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75761284C>A	ENST00000306726.2	-	13	2120	c.1608G>T	c.(1606-1608)gaG>gaT	p.E536D		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	536	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCCAAGCTCCTCCAGCTGTG	0.527																																						ENST00000306726.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1606-1608)gaG>gaT		protein tyrosine phosphatase, non-receptor type 9							77	63	67					15																	75761284		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75761284C>A		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.1608G>T	15.37:g.75761284C>A	ENSP00000303554:p.Glu536Asp						p.E536D	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN			13	2120	-			536			Tyrosine-protein phosphatase.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.1608G>T	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286754	0.40494	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.84370	-1.84	6.17	2.99	0.34606	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.157674	0.56097	D	0.000024	T	0.74718	0.3753	L	0.33339	1.005	0.46499	D	0.999077	B	0.06786	0.001	B	0.12837	0.008	T	0.69465	-0.5138	10	0.72032	D	0.01	.	5.322	0.15885	0.1449:0.5864:0.0:0.2688	.	536	P43378	PTN9_HUMAN	D	536;526	ENSP00000303554:E536D	ENSP00000303554:E536D	E	-	3	2	PTPN9	73548337	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.443000	0.21644	0.943000	0.37553	0.655000	0.94253	GAG		0.527	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			5	19	1	0	0.014758	1	0.0148771	5	19					A	75761284	C	A	75761284	3	1	435	1	0	0	0	0	1	0	0	0	12794	680	24	5	177	5	PTPN9	15	75761284	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	38574	75761284	26770108	6609	27534											
CSPG4	1464	broad.mit.edu	37	chr15	75975362	75975362	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcctccgcagggatgggCgcagtggccccctcccacat	7	5	13	16	2	0	1	0	0	0	1	2	2	2	2	5	3	1	2	5	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75975362C>T	ENST00000308508.5	-	6	4562	c.4470G>A	c.(4468-4470)gcG>gcA	p.A1490A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1490	Gly/Ser-rich (glycosaminoglycan attachment domain).				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGGGATGGGCGCAGTGGCCC	0.677																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(4468-4470)gcG>gcA		chondroitin sulfate proteoglycan 4							18	19	18					15																	75975362		2191	4287	6478	SO:0001819	synonymous_variant	1464				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	g.chr15:75975362C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4470G>A	15.37:g.75975362C>T							p.A1490A	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			6	4562	-			1490			Gly/Ser-rich (glycosaminoglycan attachment domain).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.4470G>A	CCDS10284.1																																																																																				0.677	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		5	9	0	0	0	1	0	5	9					T	75975362	C	T	75975362	2	4	435	1	0	0	0	0	0	0	0	1	3960	755	27	1		1	CSPG4	15	75975362	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	214078	75975362	26556030	6610	27535											
CSPG4	1464	broad.mit.edu	37	chr15	75980589	75980589	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaacctcccatggcggggCcgctccatgacctcatagag	8	6	11	16	2	1	2	1	1	0	1	3	2	3	2	6	3	1	1	6	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75980589C>T	ENST00000308508.5	-	3	2909	c.2817G>A	c.(2815-2817)cgG>cgA	p.R939R		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	939	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CATGGCGGGGCCGCTCCATGA	0.587																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(2815-2817)cgG>cgA		chondroitin sulfate proteoglycan 4							78	82	81					15																	75980589		2192	4277	6469	SO:0001819	synonymous_variant	1464				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	g.chr15:75980589C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2817G>A	15.37:g.75980589C>T							p.R939R	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	2909	-			939			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.2817G>A	CCDS10284.1																																																																																				0.587	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		9	60	0	0	0	1	0	9	60					T	75980589	C	T	75980589	2	4	435	1	0	0	0	0	0	0	0	1	3960	726	26	3		3	CSPG4	15	75980589	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5227	75980589	26550803	6611	27536											
CSPG4	1464	broad.mit.edu	37	chr15	75981312	75981312	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgacgcggaacagcacGctcacatcctgccccacggc	9	4	10	18	4	1	1	1	1	0	0	2	2	2	2	4	2	3	2	4	2	1	0	rs200145847		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75981312G>A	ENST00000308508.5	-	3	2186	c.2094C>T	c.(2092-2094)agC>agT	p.S698S		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	698	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGAACAGCACGCTCACATCCT	0.667													G|||	1	0.000199681	0	0.0014	5008	,	,		17668	0		0	False		,,,				2504	0					ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(2092-2094)agC>agT		chondroitin sulfate proteoglycan 4		G		0,4394		0,0,2197	67	66	66		2094	3.5	1	15		66	1,8585		0,1,4292	no	coding-synonymous	CSPG4	NM_001897.4		0,1,6489	AA,AG,GG		0.0116,0.0,0.0077		698/2323	75981312	1,12979	2197	4293	6490	SO:0001819	synonymous_variant	1464				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	g.chr15:75981312G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2094C>T	15.37:g.75981312G>A							p.S698S	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	2186	-			698			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.2094C>T	CCDS10284.1																																																																																				0.667	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		27	37	0	0	0	1	0	27	37					A	75981312	G	A	75981312	2	1	435	1	0	0	0	0	0	0	0	1	3960	1078	38	1		1	CSPG4	15	75981312	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	723	75981312	26550080	6612	27537											
CSPG4	1464	broad.mit.edu	37	chr15	75981969	75981969	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgtccagctcgagctcGccatggcgtgcccctcgggt	4	8	15	14	4	0	0	0	0	0	0	4	2	1	1	4	3	3	2	4	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75981969G>A	ENST00000308508.5	-	3	1529	c.1437C>T	c.(1435-1437)ggC>ggT	p.G479G		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	479	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCTCGAGCTCGCCATGGCGTG	0.637																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(1435-1437)ggC>ggT		chondroitin sulfate proteoglycan 4							67	61	63					15																	75981969		2197	4289	6486	SO:0001819	synonymous_variant	1464				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	g.chr15:75981969G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1437C>T	15.37:g.75981969G>A							p.G479G	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	1529	-			479			Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.1437C>T	CCDS10284.1																																																																																				0.637	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		31	37	0	0	0	1	0	31	37					A	75981969	G	A	75981969	2	1	435	1	0	0	0	0	0	0	0	1	3960	1074	38	1		1	CSPG4	15	75981969	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	657	75981969	26549423	6613	27538											
CSPG4	1464	broad.mit.edu	37	chr15	75982327	75982327	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccgcctctggccattgAcactgaggtcttccatgcag	6	9	10	16	1	2	2	0	2	2	0	3	2	3	2	5	2	1	1	5	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75982327A>G	ENST00000308508.5	-	3	1171	c.1079T>C	c.(1078-1080)gTc>gCc	p.V360A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	360	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTGGCCATTGACACTGAGGTC	0.637																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(1078-1080)gTc>gCc		chondroitin sulfate proteoglycan 4							11	12	12					15																	75982327		2174	4255	6429	SO:0001583	missense	1464				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	g.chr15:75982327A>G	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1079T>C	15.37:g.75982327A>G	ENSP00000312506:p.Val360Ala						p.V360A	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	1171	-			360			Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.1079T>C	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.210406	0.79240	.	.	ENSG00000173546	ENST00000308508	T	0.80393	-1.37	5.26	5.26	0.73747	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.820334	0.10725	N	0.641297	T	0.79868	0.4520	L	0.46157	1.445	0.48236	D	0.999619	P	0.49783	0.928	P	0.45610	0.487	T	0.76222	-0.3038	10	0.41790	T	0.15	.	14.3532	0.66719	1.0:0.0:0.0:0.0	.	360	Q6UVK1	CSPG4_HUMAN	A	360	ENSP00000312506:V360A	ENSP00000312506:V360A	V	-	2	0	CSPG4	73769382	1.000000	0.71417	0.565000	0.28409	0.903000	0.53119	8.936000	0.92931	1.993000	0.58246	0.454000	0.30748	GTC		0.637	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		6	7	0	0	0	1	0	6	7					G	75982327	A	G	75982327	3	3	435	1	0	0	0	0	1	0	0	0	3960	275	10	4	5921	4	CSPG4	15	75982327	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	358	75982327	26549065	6614	27539											
C15orf27	123591	broad.mit.edu	37	chr15	76430183	76430183	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgctgtcgatctctcCacggcgggctcgcagctcct	3	10	12	16	4	1	0	0	0	1	0	6	1	3	0	2	3	2	5	2	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:76430183C>A	ENST00000388942.3	+	3	450	c.174C>A	c.(172-174)tcC>tcA	p.S58S		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	58					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCGATCTCTCCACGGCGGGCT	0.542																																						ENST00000388942.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(172-174)tcC>tcA		chromosome 15 open reading frame 27							70	76	74					15																	76430183		1988	4161	6149	SO:0001819	synonymous_variant	123591					integral to membrane		g.chr15:76430183C>A	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.174C>A	15.37:g.76430183C>A							p.S58S	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN			3	450	+			58					Q8N993|Q96LL5	Silent	SNP	ENST00000388942.3	37	c.174C>A	CCDS10289.2																																																																																				0.542	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		17	34	1	0	1.33834e-09	1	1.42249e-09	17	34					A	76430183	C	A	76430183	2	1	435	1	0	0	0	0	0	0	0	1	1788	581	21	5		5	C15orf27	15	76430183	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	447856	76430183	26101209	6615	27540											
SGK269	79834	broad.mit.edu	37	chr15	77425417	77425417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccgcatcacctgcctcaCaacatggtttgtcactggtt	10	11	7	13	1	3	0	3	0	0	0	3	0	3	0	3	2	3	3	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:77425417C>T	ENST00000560626.2	-	6	4482	c.4007G>A	c.(4006-4008)tGt>tAt	p.C1336Y	PEAK1_ENST00000312493.4_Missense_Mutation_p.C1336Y			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1336	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ACCTGCCTCACAACATGGTTT	0.418																																						ENST00000560626.2																			0											c.(4006-4008)tGt>tAt		pseudopodium-enriched atypical kinase 1							88	88	88					15																	77425417		1929	4144	6073	SO:0001583	missense	79834				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	g.chr15:77425417C>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4007G>A	15.37:g.77425417C>T	ENSP00000452796:p.Cys1336Tyr					PEAK1_ENST00000312493.4_Missense_Mutation_p.C1336Y	p.C1336Y			Q9H792	PEAK1_HUMAN			6	4482	-			1336			Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.4007G>A	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521458	0.85600	.	.	ENSG00000173517	ENST00000312493	T	0.30448	1.53	5.56	5.56	0.83823	Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58177	0.2104	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60378	-0.7275	10	0.87932	D	0	-2.494	19.5258	0.95206	0.0:1.0:0.0:0.0	.	1336	Q9H792	PEAK1_HUMAN	Y	1336	ENSP00000309230:C1336Y	ENSP00000309230:C1336Y	C	-	2	0	AC087465.1	75212472	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.818000	0.86416	2.612000	0.88384	0.655000	0.94253	TGT		0.418	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			28	36	0	0	0	1	0	28	36					T	77425417	C	T	77425417	3	4	435	1	0	0	0	0	1	0	0	0	14211	478	17	3	1241	3	SGK269	15	77425417	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	995234	77425417	25105975	6616	27541											
SGK269	79834	broad.mit.edu	37	chr15	77450876	77450876	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgttgcactacaagggttCgggtccataggatctgaaat	11	12	11	7	1	1	1	0	1	1	0	3	2	2	2	1	3	2	3	1	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:77450876C>T	ENST00000560626.2	-	5	3775	c.3300G>A	c.(3298-3300)ccG>ccA	p.P1100P	PEAK1_ENST00000312493.4_Silent_p.P1100P			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1100					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TACAAGGGTTCGGGTCCATAG	0.423																																						ENST00000560626.2																			0											c.(3298-3300)ccG>ccA		pseudopodium-enriched atypical kinase 1							172	157	162					15																	77450876		1923	4127	6050	SO:0001819	synonymous_variant	79834				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	g.chr15:77450876C>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3300G>A	15.37:g.77450876C>T						PEAK1_ENST00000312493.4_Silent_p.P1100P	p.P1100P			Q9H792	PEAK1_HUMAN			5	3775	-			1100					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	ENST00000560626.2	37	c.3300G>A	CCDS42062.1																																																																																				0.423	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			28	32	0	0	0	1	0	28	32					T	77450876	C	T	77450876	2	4	435	1	0	0	0	0	0	0	0	1	14211	871	31	2		2	SGK269	15	77450876	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25459	77450876	25080516	6617	27542											
HMG20A	10363	broad.mit.edu	37	chr15	77770726	77770726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcacgtggagagcatgCgcacagcagtggagaagctg	14	4	15	8	2	0	2	0	0	0	2	0	4	0	2	0	2	5	5	0	2	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:77770726C>T	ENST00000381714.3	+	9	1209	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	HMG20A_ENST00000336216.4_Missense_Mutation_p.R261C	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	261					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R261C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GGAGAGCATGCGCACAGCAGT	0.587																																						ENST00000381714.3																			1	Substitution - Missense(1)	p.R261C(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(781-783)Cgc>Tgc		high mobility group 20A							79	70	73					15																	77770726		2196	4294	6490	SO:0001583	missense	10363				chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:77770726C>T	AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"High mobility group / Non-canonical"	5001	protein-coding gene	gene with protein product	"HMG box domain containing 1"	605534	"high-mobility group 20A"			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.781C>T	15.37:g.77770726C>T	ENSP00000371133:p.Arg261Cys					HMG20A_ENST00000336216.4_Missense_Mutation_p.R261C	p.R261C	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN			9	1209	+			261					A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	ENST00000381714.3	37	c.781C>T	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	C	34	5.329918	0.95733	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.68903	-0.36;-0.36	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.78323	0.4265	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	P	0.60286	0.872	T	0.76971	-0.2761	10	0.49607	T	0.09	-9.7526	20.1931	0.98233	0.0:1.0:0.0:0.0	.	261	Q9NP66	HM20A_HUMAN	C	261	ENSP00000336856:R261C;ENSP00000371133:R261C	ENSP00000336856:R261C	R	+	1	0	HMG20A	75557781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.446000	0.60014	2.771000	0.95319	0.563000	0.77884	CGC		0.587	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200		8	20	0	0	0	1	0	8	20					T	77770726	C	T	77770726	3	4	435	1	0	0	0	0	1	0	0	0	7221	768	27	1	807	1	HMG20A	15	77770726	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	319850	77770726	24760666	6618	27543											
LINGO1	84894	broad.mit.edu	37	chr15	77906603	77906603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgatgtcgaaggggaaaGgcacagtggcgcgggtgctg	8	8	18	7	3	1	1	0	1	1	0	2	3	1	2	0	5	1	2	0	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:77906603G>T	ENST00000355300.6	-	2	1820	c.1646C>A	c.(1645-1647)cCt>cAt	p.P549H	LINGO1_ENST00000561030.1_Missense_Mutation_p.P543H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	549					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GAAGGGGAAAGGCACAGTGGC	0.607																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1645-1647)cCt>cAt		leucine rich repeat and Ig domain containing 1							125	131	129					15																	77906603		2166	4258	6424	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77906603G>T	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1646C>A	15.37:g.77906603G>T	ENSP00000347451:p.Pro549His					LINGO1_ENST00000561030.1_Missense_Mutation_p.P543H	p.P549H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	1820	-			549					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.1646C>A	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021455	0.54576	.	.	ENSG00000169783	ENST00000355300	T	0.53640	0.61	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.64316	0.2587	M	0.61703	1.905	0.80722	D	1	D	0.67145	0.996	P	0.59012	0.85	T	0.67284	-0.5709	10	0.72032	D	0.01	.	19.0895	0.93221	0.0:0.0:1.0:0.0	.	549	Q96FE5	LIGO1_HUMAN	H	549	ENSP00000347451:P549H	ENSP00000347451:P549H	P	-	2	0	LINGO1	75693658	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.863000	0.87023	2.509000	0.84616	0.561000	0.74099	CCT		0.607	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		16	26	1	0	2.23348e-06	1	2.32236e-06	16	26					T	77906603	G	T	77906603	3	4	435	1	0	0	0	0	1	0	0	0	8814	1000	35	5	220	5	LINGO1	15	77906603	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	135877	77906603	24624789	6619	27544											
LINGO1	84894	broad.mit.edu	37	chr15	77907625	77907625	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtgggacagcgcctcGgtggggatggaggtcaggtt	6	8	20	7	2	1	0	1	0	0	0	2	3	1	3	1	8	2	2	1	8	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:77907625G>A	ENST00000355300.6	-	2	798	c.624C>T	c.(622-624)acC>acT	p.T208T	LINGO1_ENST00000561030.1_Silent_p.T202T	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	208					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						ACAGCGCCTCGGTGGGGATGG	0.607																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(622-624)acC>acT		leucine rich repeat and Ig domain containing 1							104	114	111					15																	77907625		2174	4272	6446	SO:0001819	synonymous_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907625G>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.624C>T	15.37:g.77907625G>A						LINGO1_ENST00000561030.1_Silent_p.T202T	p.T208T	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	798	-			208					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	c.624C>T	CCDS45313.1																																																																																				0.607	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		43	41	0	0	0	1	0	43	41					A	77907625	G	A	77907625	2	1	435	1	0	0	0	0	0	0	0	1	8814	1103	39	2		2	LINGO1	15	77907625	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1022	77907625	24623767	6620	27545											
LINGO1	84894	broad.mit.edu	37	chr15	77907837	77907837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgaggccagtgaagaCgcctagcgggatgagcttca	9	8	15	9	2	1	4	1	3	0	1	1	5	1	5	2	2	3	3	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:77907837C>T	ENST00000355300.6	-	2	586	c.412G>A	c.(412-414)Gtc>Atc	p.V138I	LINGO1_ENST00000561030.1_Missense_Mutation_p.V132I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	138					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CCAGTGAAGACGCCTAGCGGG	0.572																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(412-414)Gtc>Atc		leucine rich repeat and Ig domain containing 1							81	86	84					15																	77907837		2114	4237	6351	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907837C>T	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.412G>A	15.37:g.77907837C>T	ENSP00000347451:p.Val138Ile					LINGO1_ENST00000561030.1_Missense_Mutation_p.V132I	p.V138I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	586	-			138					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.412G>A	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636729	0.87760	.	.	ENSG00000169783	ENST00000355300	T	0.57595	0.39	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	N	0.04320	-0.23	0.80722	D	1	P	0.40602	0.723	P	0.47626	0.552	T	0.38090	-0.9677	10	0.21014	T	0.42	.	19.6704	0.95910	0.0:1.0:0.0:0.0	.	138	Q96FE5	LIGO1_HUMAN	I	138	ENSP00000347451:V138I	ENSP00000347451:V138I	V	-	1	0	LINGO1	75694892	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.659000	0.90383	0.561000	0.74099	GTC		0.572	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		18	30	0	0	0	1	0	18	30					T	77907837	C	T	77907837	3	4	435	1	0	0	0	0	1	0	0	0	8814	536	19	1	1454	1	LINGO1	15	77907837	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	212	77907837	24623555	6621	27546											
ACSBG1	23205	broad.mit.edu	37	chr15	78487032	78487032	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtctatgcgcaggcgcAcccgcccatcggcccgagtc	5	6	14	16	5	1	0	0	0	1	0	3	1	1	0	3	4	1	2	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:78487032A>G	ENST00000258873.4	-	3	474	c.269T>C	c.(268-270)gTg>gCg	p.V90A	ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000558828.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	90					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCGCAGGCGCACCCGCCCATC	0.642																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(268-270)gTg>gCg		acyl-CoA synthetase bubblegum family member 1							90	85	87					15																	78487032		2196	4293	6489	SO:0001583	missense	23205				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	g.chr15:78487032A>G	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.269T>C	15.37:g.78487032A>G	ENSP00000258873:p.Val90Ala					ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_5'UTR|ACSBG1_ENST00000541759.1_Intron	p.V90A	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			3	474	-			90					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.269T>C	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515664	0.64634	.	.	ENSG00000103740	ENST00000258873	T	0.10860	2.83	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	T	0.30947	0.0781	M	0.76727	2.345	0.80722	D	1	D;D	0.65815	0.995;0.995	D;P	0.64410	0.925;0.831	T	0.03493	-1.1031	10	0.62326	D	0.03	-34.8028	13.7668	0.62999	1.0:0.0:0.0:0.0	.	90;90	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	A	90	ENSP00000258873:V90A	ENSP00000258873:V90A	V	-	2	0	ACSBG1	76274087	1.000000	0.71417	0.261000	0.24466	0.035000	0.12851	8.138000	0.89613	1.929000	0.55896	0.533000	0.62120	GTG		0.642	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		6	66	0	0	0	1	0	6	66					G	78487032	A	G	78487032	3	3	435	1	0	0	0	0	1	0	0	0	173	159	6	4	1953	4	ACSBG1	15	78487032	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	579195	78487032	24044360	6622	27547											
IREB2	3658	broad.mit.edu	37	chr15	78777262	78777262	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctgtcatgcttgctgcaGgtgggttgtggtttatggcc	4	15	14	8	0	2	0	1	0	1	0	2	0	2	0	1	4	3	5	1	4	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:78777262G>T	ENST00000258886.8	+	12	1722	c.1573G>T	c.(1573-1575)Ggt>Tgt	p.G525C		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	525					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			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)		GCTTGCTGCAGGTGGGTTGTG	0.373																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				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						c.e12+1		iron-responsive element binding protein 2							129	102	111					15																	78777262		2196	4293	6489	SO:0001630	splice_region_variant	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78777262G>T	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1573+1G>T	15.37:g.78777262G>T							p.G525_splice	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	12	1722	+			525					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Splice_Site	SNP	ENST00000258886.8	37	c.1573_splice	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063460	0.93898	.	.	ENSG00000136381	ENST00000258886	T	0.20200	2.09	6.02	6.02	0.97574	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79983	-0.1573	10	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	525	P48200	IREB2_HUMAN	C	525	ENSP00000258886:G525C	ENSP00000258886:G525C	G	+	1	0	IREB2	76564317	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.632000	0.98428	2.857000	0.98124	0.650000	0.86243	GGT		0.373	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136	Missense_Mutation	7	91	1	0	0.0293803	1	0.0295506	7	91					T	78777262	G	T	78777262	5	4	435	1	0	0	0	0	0	0	1	0	7826	1014	35	5	1619	5	IREB2	15	78777262	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	290230	78777262	23754130	6623	27548											
PSMA4	5685	broad.mit.edu	37	chr15	78838015	78838015	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcattgctgtacattggctGggataagcactatggctttc	8	15	10	8	0	1	0	1	0	0	0	2	1	1	1	0	3	3	5	0	3	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:78838015G>A	ENST00000044462.7	+	7	566	c.416G>A	c.(415-417)tGg>tAg	p.W139*	PSMA4_ENST00000560217.1_Nonsense_Mutation_p.W108*|PSMA4_ENST00000413382.2_Nonsense_Mutation_p.W68*|PSMA4_ENST00000559082.1_Nonsense_Mutation_p.W139*|PSMA4_ENST00000558281.1_Nonsense_Mutation_p.W139*|PSMA4_ENST00000558094.1_Nonsense_Mutation_p.W51*|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000557929.1_3'UTR	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	139					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TACATTGGCTGGGATAAGCAC	0.393																																						ENST00000044462.7																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(415-417)tGg>tAg		proteasome (prosome, macropain) subunit, alpha type, 4							210	208	209					15																	78838015		2196	4293	6489	SO:0001587	stop_gained	5685				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	g.chr15:78838015G>A	BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"Proteasome (prosome, macropain) subunits"	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.416G>A	15.37:g.78838015G>A	ENSP00000044462:p.Trp139*					PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000559082.1_Nonsense_Mutation_p.W139*|PSMA4_ENST00000558281.1_Nonsense_Mutation_p.W139*|PSMA4_ENST00000558094.1_Nonsense_Mutation_p.W51*|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000413382.2_Nonsense_Mutation_p.W68*|PSMA4_ENST00000560217.1_Nonsense_Mutation_p.W108*	p.W139*	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN			7	566	+			139					D3DW86|Q53XP2|Q567Q5|Q8TBD1	Nonsense_Mutation	SNP	ENST00000044462.7	37	c.416G>A	CCDS10303.1	.	.	.	.	.	.	.	.	.	.	G	36	5.696456	0.96802	.	.	ENSG00000041357	ENST00000413382;ENST00000044462	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.8192	20.2147	0.98293	0.0:0.0:1.0:0.0	.	.	.	.	X	68;139	.	ENSP00000044462:W139X	W	+	2	0	PSMA4	76625070	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.575000	0.98187	2.785000	0.95823	0.591000	0.81541	TGG		0.393	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	NM_002789		48	79	0	0	0	1	0	48	79					A	78838015	G	A	78838015	4	1	435	1	0	0	0	0	0	1	0	0	12669	1357	47	3	438	3	PSMA4	15	78838015	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	60753	78838015	23693377	6624	27549											
CTSH	1512	broad.mit.edu	37	chr15	79229690	79229690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggttcccattgttgtgggCgtttatcttcctccagttgc	3	17	11	10	1	1	0	0	0	1	0	4	0	4	0	3	2	1	4	3	2	1	7	rs201782561		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:79229690C>T	ENST00000220166.5	-	3	308	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	CTSH_ENST00000534533.1_5'Flank	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	67					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TTGTTGTGGGCGTTTATCTTC	0.512																																						ENST00000220166.5																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						c.(199-201)Gcc>Acc		cathepsin H							205	167	180					15																	79229690		2196	4293	6489	SO:0001583	missense	1512				protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr15:79229690C>T	X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"Cathepsins"	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.199G>A	15.37:g.79229690C>T	ENSP00000220166:p.Ala67Thr						p.A67T	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN			3	308	-			67					B2RBK0|Q96NY6|Q9BUM7	Missense_Mutation	SNP	ENST00000220166.5	37	c.199G>A	CCDS10308.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302194	0.23736	.	.	ENSG00000103811	ENST00000220166;ENST00000394758;ENST00000444399	D	0.85629	-2.01	4.82	3.82	0.43975	.	0.407810	0.23191	N	0.050905	T	0.73466	0.3590	L	0.35487	1.065	0.30297	N	0.789838	P;B	0.37781	0.608;0.175	B;B	0.34346	0.18;0.017	T	0.68093	-0.5500	10	0.16420	T	0.52	.	10.3154	0.43734	0.0:0.8:0.1999:0.0	.	67;55	E9PF73;E9PBP2	.;.	T	67;55;67	ENSP00000220166:A67T	ENSP00000220166:A67T	A	-	1	0	CTSH	77016745	0.185000	0.23213	0.955000	0.39395	0.071000	0.16799	0.343000	0.19944	2.600000	0.87896	0.561000	0.74099	GCC		0.512	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291370.1	NM_004390		33	50	0	0	0	1	0	33	50					T	79229690	C	T	79229690	3	4	435	1	0	0	0	0	1	0	0	0	4036	768	27	1	848	1	CTSH	15	79229690	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	391675	79229690	23301702	6625	27550											
RASGRF1	5923	broad.mit.edu	37	chr15	79296193	79296193	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctcaggggtcgtatcGccctcatctggaatcttgtt	5	14	11	11	2	4	0	2	0	3	0	7	1	4	1	1	4	0	3	1	4	2	4	rs111385391	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:79296193G>A	ENST00000419573.3	-	16	2722	c.2448C>T	c.(2446-2448)ggC>ggT	p.G816G	RASGRF1_ENST00000558480.2_Silent_p.G800G|RASGRF1_ENST00000394745.3_Silent_p.G32G|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	816					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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						GGGTCGTATCGCCCTCATCTG	0.612													G|||	24	0.00479233	0	0.0014	5008	,	,		18754	0		0.004	False		,,,				2504	0.0194					ENST00000419573.3																			0				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						c.(2446-2448)ggC>ggT		Ras protein-specific guanine nucleotide-releasing factor 1		G	,,	5,4387	9.9+/-24.2	0,5,2191	57	47	51		2400,2448,96	-9.9	0	15	dbSNP_132	51	33,8553	22.8+/-68.1	0,33,4260	no	coding-synonymous,coding-synonymous,coding-synonymous	RASGRF1	NM_001145648.1,NM_002891.4,NM_153815.2	,,	0,38,6451	AA,AG,GG		0.3843,0.1138,0.2928	,,	800/1258,816/1274,32/490	79296193	38,12940	2196	4293	6489	SO:0001819	synonymous_variant	5923				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	g.chr15:79296193G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2448C>T	15.37:g.79296193G>A						RASGRF1_ENST00000558480.2_Silent_p.G800G|RASGRF1_ENST00000394745.3_Silent_p.G32G|RASGRF1_ENST00000560334.1_5'UTR	p.G816G	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			16	2722	-			818					F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.2448C>T	CCDS10309.1																																																																																				0.612	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		6	25	0	0	0	1	0	6	25					A	79296193	G	A	79296193	2	1	435	1	0	0	0	0	0	0	0	1	13072	1074	38	1		1	RASGRF1	15	79296193	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	66503	79296193	23235199	6626	27551											
RASGRF1	5923	broad.mit.edu	37	chr15	79356790	79356790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaatggctgccacccattCgtcacaatcttttgcgtcct	7	13	7	14	2	2	0	1	0	1	0	4	0	3	0	3	1	3	2	3	1	2	3	rs144681233		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:79356790C>T	ENST00000419573.3	-	2	629	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E119K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	119	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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						GCCACCCATTCGTCACAATCT	0.527																																						ENST00000419573.3																			0				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						c.(355-357)Gaa>Aaa		Ras protein-specific guanine nucleotide-releasing factor 1							308	244	266					15																	79356790		2196	4293	6489	SO:0001583	missense	5923				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	g.chr15:79356790C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.355G>A	15.37:g.79356790C>T	ENSP00000405963:p.Glu119Lys					RASGRF1_ENST00000558480.2_Missense_Mutation_p.E119K|RASGRF1_ENST00000560334.1_5'UTR	p.E119K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			2	629	-			119			PH 1.		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.355G>A	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548147	0.86022	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.14144	2.53	4.95	4.95	0.65309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.145187	0.49916	D	0.000133	T	0.36690	0.0976	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.997	P;D;D;D	0.68192	0.874;0.936;0.956;0.926	T	0.06625	-1.0816	10	0.51188	T	0.08	.	15.7119	0.77635	0.0:1.0:0.0:0.0	.	119;119;119;119	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	K	119	ENSP00000405963:E119K	ENSP00000378224:E119K	E	-	1	0	RASGRF1	77143845	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	7.012000	0.76366	2.564000	0.86499	0.561000	0.74099	GAA		0.527	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		36	69	0	0	0	1	0	36	69					T	79356790	C	T	79356790	3	4	435	1	0	0	0	0	1	0	0	0	13072	893	31	2	3574	2	RASGRF1	15	79356790	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	60597	79356790	23174602	6627	27552											
KIAA1024	23251	broad.mit.edu	37	chr15	79749053	79749053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagaggtgaaaaaccgCgccgcttccctggacaggtt	12	6	12	11	3	0	2	0	1	0	1	1	3	1	3	3	3	2	3	3	3	3	2	rs181976434		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:79749053C>T	ENST00000305428.3	+	2	639	c.564C>T	c.(562-564)cgC>cgT	p.R188R		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	188						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGAAAAACCGCGCCGCTTCCC	0.572													C|||	1	0.000199681	0	0.0014	5008	,	,		19403	0		0	False		,,,				2504	0					ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(562-564)cgC>cgT		KIAA1024							49	53	52					15																	79749053		2196	4293	6489	SO:0001819	synonymous_variant	23251					integral to membrane		g.chr15:79749053C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.564C>T	15.37:g.79749053C>T							p.R188R	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	639	+			188					A7MD43	Silent	SNP	ENST00000305428.3	37	c.564C>T	CCDS32306.1																																																																																				0.572	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		16	24	0	0	0	1	0	16	24					T	79749053	C	T	79749053	2	4	435	1	0	0	0	0	0	0	0	1	8205	755	27	1		1	KIAA1024	15	79749053	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	392263	79749053	22782339	6628	27553											
KIAA1024	23251	broad.mit.edu	37	chr15	79749720	79749720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcccagccccagaaaggCgcccaacttaccttgtgcca	10	8	7	16	1	0	1	0	0	0	1	1	1	1	1	6	1	4	0	6	1	3	3	rs148542288		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:79749720C>T	ENST00000305428.3	+	2	1306	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	411						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CCCAGAAAGGCGCCCAACTTA	0.478																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(1231-1233)Cgc>Tgc		KIAA1024		C	CYS/ARG	0,4390		0,0,2195	65	75	72		1231	4.2	1	15	dbSNP_134	72	1,8585	1.2+/-3.3	0,1,4292	no	missense	KIAA1024	NM_015206.2	180	0,1,6487	TT,TC,CC		0.0116,0.0,0.0077	benign	411/917	79749720	1,12975	2195	4293	6488	SO:0001583	missense	23251					integral to membrane		g.chr15:79749720C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1231C>T	15.37:g.79749720C>T	ENSP00000307461:p.Arg411Cys						p.R411C	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	1306	+			411					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.1231C>T	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	4.250	0.045473	0.08196	0.0	1.16E-4	ENSG00000169330	ENST00000305428	T	0.32023	1.47	5.14	4.22	0.49857	.	0.358095	0.32386	N	0.006161	T	0.15869	0.0382	N	0.08118	0	0.32339	N	0.560049	B	0.09022	0.002	B	0.04013	0.001	T	0.11665	-1.0578	9	.	.	.	.	13.444	0.61129	0.0:0.9233:0.0:0.0767	.	411	Q9UPX6	K1024_HUMAN	C	411	ENSP00000307461:R411C	.	R	+	1	0	KIAA1024	77536775	1.000000	0.71417	0.987000	0.45799	0.027000	0.11550	3.030000	0.49720	1.157000	0.42530	0.491000	0.48974	CGC		0.478	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		19	32	0	0	0	1	0	19	32					T	79749720	C	T	79749720	3	4	435	1	0	0	0	0	1	0	0	0	8205	768	27	1	1233	1	KIAA1024	15	79749720	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	667	79749720	22781672	6629	27554											
KIAA1024	23251	broad.mit.edu	37	chr15	79750157	79750157	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctccataagtcagactgCgacagttcccctgagcacaa	12	7	8	14	1	1	2	1	1	0	1	3	3	3	2	3	0	3	3	3	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:79750157C>T	ENST00000305428.3	+	2	1743	c.1668C>T	c.(1666-1668)tgC>tgT	p.C556C		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	556						integral component of membrane (GO:0016021)		p.C556>?(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AGTCAGACTGCGACAGTTCCC	0.527																																						ENST00000305428.3																			1	Complex(1)	p.C556>?(1)	large_intestine(1)	central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(1666-1668)tgC>tgT		KIAA1024							75	63	67					15																	79750157		2196	4293	6489	SO:0001819	synonymous_variant	23251					integral to membrane		g.chr15:79750157C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1668C>T	15.37:g.79750157C>T							p.C556C	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	1743	+			556					A7MD43	Silent	SNP	ENST00000305428.3	37	c.1668C>T	CCDS32306.1																																																																																				0.527	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		14	18	0	0	0	1	0	14	18					T	79750157	C	T	79750157	2	4	435	1	0	0	0	0	0	0	0	1	8205	776	27	1		1	KIAA1024	15	79750157	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	437	79750157	22781235	6630	27555											
FAM108C1	58489	broad.mit.edu	37	chr15	81046578	81046578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgatttctcccatggcctagCgatgtacgagcgctgtcccc	6	10	10	15	4	1	0	0	0	1	0	3	3	2	0	4	1	3	2	4	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:81046578C>T	ENST00000258884.4	+	3	984	c.857C>T	c.(856-858)gCg>gTg	p.A286V	ABHD17C_ENST00000558464.1_Missense_Mutation_p.A252V|ABHD17C_ENST00000560609.1_Missense_Mutation_p.A51V|ABHD17C_ENST00000559506.1_3'UTR	NM_021214.1	NP_067037.1	Q6PCB6	AB17C_HUMAN	abhydrolase domain containing 17C	286							hydrolase activity (GO:0016787)										CATGGCCTAGCGATGTACGAG	0.478																																						ENST00000258884.4																			0											c.(856-858)gCg>gTg		abhydrolase domain containing 17C							73	72	72					15																	81046578		1953	4140	6093	SO:0001583	missense	58489							g.chr15:81046578C>T		CCDS45323.1	15q25.1	2013-03-15	2013-03-15	2013-03-15	ENSG00000136379	ENSG00000136379		"Abhydrolase domain containing"	26925	protein-coding gene	gene with protein product			"family with sequence similarity 108, member C1"	FAM108C1			Standard	NM_021214		Approved		uc002bfu.3	Q6PCB6		ENST00000258884.4:c.857C>T	15.37:g.81046578C>T	ENSP00000258884:p.Ala286Val					ABHD17C_ENST00000559506.1_3'UTR|ABHD17C_ENST00000560609.1_Missense_Mutation_p.A51V|ABHD17C_ENST00000558464.1_Missense_Mutation_p.A252V	p.A286V	NM_021214.1	NP_067037.1					3	984	+								Q1RMD6|Q9NPM1	Missense_Mutation	SNP	ENST00000258884.4	37	c.857C>T	CCDS45323.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871703	0.51695	.	.	ENSG00000136379	ENST00000258884	T	0.24723	1.84	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.25195	0.0612	L	0.39020	1.185	0.80722	D	1	P;P	0.44946	0.846;0.673	B;B	0.40375	0.327;0.169	T	0.01312	-1.1388	10	0.36615	T	0.2	.	19.3772	0.94517	0.0:1.0:0.0:0.0	.	286;252	Q6PCB6;Q6PCB6-2	F108C_HUMAN;.	V	286	ENSP00000258884:A286V	ENSP00000258884:A286V	A	+	2	0	FAM108C1	78833633	1.000000	0.71417	0.984000	0.44739	0.206000	0.24218	7.456000	0.80751	2.560000	0.86352	0.650000	0.86243	GCG		0.478	ABHD17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417652.1	NM_021214		21	17	0	0	0	1	0	21	17					T	81046578	C	T	81046578	3	4	435	1	0	0	0	0	1	0	0	0	5393	768	27	1	867	1	FAM108C1	15	81046578	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1296421	81046578	21484814	6631	27556											
MESDC2	23184	broad.mit.edu	37	chr15	81271611	81271611	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttccttggaagaccgAgatttcagatctccttcctt	7	17	6	11	1	3	3	1	0	2	3	6	5	5	4	4	1	0	0	4	1	1	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:81271611A>G	ENST00000261758.4	-	3	740	c.654T>C	c.(652-654)tcT>tcC	p.S218S	MESDC2_ENST00000560244.1_5'Flank	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	218					mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						TGGAAGACCGAGATTTCAGAT	0.507																																						ENST00000261758.4																			0				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						c.(652-654)tcT>tcC		mesoderm development candidate 2							84	88	87					15																	81271611		2203	4300	6503	SO:0001819	synonymous_variant	23184				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum		g.chr15:81271611A>G	D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.654T>C	15.37:g.81271611A>G							p.S218S	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN			3	740	-			218					B4DW84|D3DW96|Q969U1	Silent	SNP	ENST00000261758.4	37	c.654T>C	CCDS32308.1																																																																																				0.507	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154		14	25	0	0	0	1	0	14	25					G	81271611	A	G	81271611	2	3	435	1	0	0	0	0	0	0	0	1	9481	291	11	4		4	MESDC2	15	81271611	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	225033	81271611	21259781	6632	27557											
MESDC1	59274	broad.mit.edu	37	chr15	81295207	81295207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcctgacggacgcgtgcGccctggccagtgacaagtca	8	7	13	13	4	1	2	1	2	0	0	2	3	2	3	3	2	1	1	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:81295207G>A	ENST00000267984.2	+	1	1913	c.595G>A	c.(595-597)Gcc>Acc	p.A199T		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	199										endometrium(1)|lung(2)	3						GGACGCGTGCGCCCTGGCCAG	0.687																																						ENST00000267984.2																			0				endometrium(1)|lung(2)	3						c.(595-597)Gcc>Acc		mesoderm development candidate 1							29	30	30					15																	81295207		2198	4292	6490	SO:0001583	missense	59274							g.chr15:81295207G>A	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.595G>A	15.37:g.81295207G>A	ENSP00000267984:p.Ala199Thr						p.A199T	NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN			1	1913	+			199						Missense_Mutation	SNP	ENST00000267984.2	37	c.595G>A	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672460	0.47781	.	.	ENSG00000140406	ENST00000267984	T	0.08458	3.09	4.43	4.43	0.53597	.	0.244563	0.34362	N	0.004032	T	0.05090	0.0136	N	0.14661	0.345	0.33323	D	0.567593	B	0.33022	0.394	B	0.22386	0.039	T	0.28138	-1.0053	10	0.14656	T	0.56	-11.6374	17.3875	0.87421	0.0:0.0:1.0:0.0	.	199	Q9H1K6	MESD1_HUMAN	T	199	ENSP00000267984:A199T	ENSP00000267984:A199T	A	+	1	0	MESDC1	79082262	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.272000	0.65559	2.145000	0.66743	0.462000	0.41574	GCC		0.687	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		6	3	0	0	0	1	0	6	3					A	81295207	G	A	81295207	3	1	435	1	0	0	0	0	1	0	0	0	9480	1087	38	1	597	1	MESDC1	15	81295207	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23596	81295207	21236185	6633	27558											
MESDC1	59274	broad.mit.edu	37	chr15	81295606	81295606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaggaactcggcctgcGccgtgtctgaaggctgcacc	6	7	15	13	3	1	2	0	2	1	0	2	3	1	3	3	4	3	3	3	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:81295606G>A	ENST00000267984.2	+	1	2312	c.994G>A	c.(994-996)Gcc>Acc	p.A332T		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	332										endometrium(1)|lung(2)	3						CTCGGCCTGCGCCGTGTCTGA	0.612																																						ENST00000267984.2																			0				endometrium(1)|lung(2)	3						c.(994-996)Gcc>Acc		mesoderm development candidate 1							15	20	18					15																	81295606		2196	4296	6492	SO:0001583	missense	59274							g.chr15:81295606G>A	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.994G>A	15.37:g.81295606G>A	ENSP00000267984:p.Ala332Thr						p.A332T	NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN			1	2312	+			332						Missense_Mutation	SNP	ENST00000267984.2	37	c.994G>A	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291534	0.80914	.	.	ENSG00000140406	ENST00000267984	.	.	.	4.86	3.93	0.45458	.	0.000000	0.85682	U	0.000000	T	0.61451	0.2348	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.55386	-0.8149	9	0.16896	T	0.51	-11.6374	14.9579	0.71131	0.0:0.1439:0.8561:0.0	.	332	Q9H1K6	MESD1_HUMAN	T	332	.	ENSP00000267984:A332T	A	+	1	0	MESDC1	79082661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.194000	0.94962	0.999000	0.39023	0.549000	0.68633	GCC		0.612	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		3	4	0	0	0	1	0	3	4					A	81295606	G	A	81295606	3	1	435	1	0	0	0	0	1	0	0	0	9480	1087	38	1	996	1	MESDC1	15	81295606	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	399	81295606	21235786	6634	27559											
IL16	3603	broad.mit.edu	37	chr15	81552188	81552188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaacttcctgtttcctaaaGcctgccaccaaagggcacgc	10	9	8	14	1	0	0	0	0	0	0	2	0	2	0	5	1	3	3	5	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:81552188G>A	ENST00000302987.4	+	2	388	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	IL16_ENST00000394660.2_Missense_Mutation_p.A130T			Q14005	IL16_HUMAN	interleukin 16	130					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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						GTTTCCTAAAGCCTGCCACCA	0.468																																						ENST00000394660.2																			0				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						c.(388-390)Gcc>Acc		interleukin 16							75	76	76					15																	81552188		1921	4122	6043	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81552188G>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.388G>A	15.37:g.81552188G>A	ENSP00000302935:p.Ala130Thr					IL16_ENST00000302987.4_Missense_Mutation_p.A130T	p.A130T	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			3	748	+			130					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.388G>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	9.077	0.998253	0.19043	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000302987	T;T	0.11495	2.78;2.77	4.52	1.4	0.22301	.	0.395446	0.18522	N	0.138753	T	0.08088	0.0202	L	0.38838	1.175	0.43021	D	0.994571	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.18178	-1.0345	10	0.37606	T	0.19	.	7.4735	0.27363	0.325:0.0:0.675:0.0	.	130;130	Q14005;Q14005-2	IL16_HUMAN;.	T	130	ENSP00000378155:A130T;ENSP00000302935:A130T	ENSP00000302935:A130T	A	+	1	0	IL16	79339243	1.000000	0.71417	0.307000	0.25127	0.603000	0.37013	1.691000	0.37721	0.534000	0.28695	-0.244000	0.11960	GCC		0.468	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		30	53	0	0	0	1	0	30	53					A	81552188	G	A	81552188	3	1	435	1	0	0	0	0	1	0	0	0	7633	971	34	3	394	3	IL16	15	81552188	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	256582	81552188	20979204	6635	27560											
IL16	3603	broad.mit.edu	37	chr15	81585159	81585159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttctatagcatcctccagGctgccccaggagagcccacc	8	8	8	17	0	1	1	0	0	1	1	3	2	3	1	6	2	3	2	6	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:81585159G>A	ENST00000302987.4	+	11	1683	c.1683G>A	c.(1681-1683)agG>agA	p.R561R	IL16_ENST00000394660.2_Silent_p.R561R			Q14005	IL16_HUMAN	interleukin 16	561					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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						CATCCTCCAGGCTGCCCCAGG	0.597																																						ENST00000394660.2																			0				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						c.(1681-1683)agG>agA		interleukin 16							26	30	29					15																	81585159		1943	4134	6077	SO:0001819	synonymous_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81585159G>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1683G>A	15.37:g.81585159G>A						IL16_ENST00000302987.4_Silent_p.R561R	p.R561R	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			12	2043	+			561					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	c.1683G>A	CCDS42069.1																																																																																				0.597	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		13	15	0	0	0	1	0	13	15					A	81585159	G	A	81585159	2	1	435	1	0	0	0	0	0	0	0	1	7633	1194	42	3		3	IL16	15	81585159	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32971	81585159	20946233	6636	27561											
IL16	3603	broad.mit.edu	37	chr15	81592597	81592597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcccagtcctgtgagaCgaagctacttgacgaaaaga	13	7	11	10	2	0	3	0	2	0	2	2	6	2	3	2	1	2	1	2	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:81592597C>T	ENST00000302987.4	+	13	2930	c.2930C>T	c.(2929-2931)aCg>aTg	p.T977M	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.T276M|IL16_ENST00000394660.2_Missense_Mutation_p.T977M			Q14005	IL16_HUMAN	interleukin 16	977					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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						TCCTGTGAGACGAAGCTACTT	0.532																																						ENST00000394660.2																			0				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						c.(2929-2931)aCg>aTg		interleukin 16							88	76	80					15																	81592597		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592597C>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2930C>T	15.37:g.81592597C>T	ENSP00000302935:p.Thr977Met					IL16_ENST00000302987.4_Missense_Mutation_p.T977M|IL16_ENST00000394652.2_Missense_Mutation_p.T276M	p.T977M	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			14	3290	+			977					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.2930C>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	1.153	-0.646083	0.03531	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.09817	2.94;2.94;3.52	5.0	2.78	0.32641	.	0.734238	0.12100	N	0.499566	T	0.03305	0.0096	N	0.02011	-0.69	0.23611	N	0.997298	B;B;B;B;B;B	0.22541	0.006;0.04;0.009;0.071;0.004;0.05	B;B;B;B;B;B	0.09377	0.004;0.004;0.001;0.002;0.002;0.004	T	0.42565	-0.9444	10	0.27082	T	0.32	.	2.8859	0.05661	0.0:0.3109:0.2438:0.4453	.	809;470;514;367;977;977	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	M	977;809;977;514;367;276;276	ENSP00000378155:T977M;ENSP00000302935:T977M;ENSP00000378147:T276M	ENSP00000302935:T977M	T	+	2	0	IL16	79379652	0.779000	0.28652	0.004000	0.12327	0.132000	0.20833	0.950000	0.29122	0.337000	0.23665	0.655000	0.94253	ACG		0.532	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		10	17	0	0	0	1	0	10	17					T	81592597	C	T	81592597	3	4	435	1	0	0	0	0	1	0	0	0	7633	536	19	1	2980	1	IL16	15	81592597	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7438	81592597	20938795	6637	27562											
TMC3	342125	broad.mit.edu	37	chr15	81625594	81625594	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgcttgcacacagaccGtgcagatacctgtaagacag	11	8	11	11	1	0	3	0	0	0	3	0	3	0	3	2	1	4	4	2	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:81625594G>A	ENST00000359440.5	-	22	2604	c.2469C>T	c.(2467-2469)caC>caT	p.H823H	RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Silent_p.H824H	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CACACAGACCGTGCAGATACC	0.527																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2470-2472)caC>caT		transmembrane channel-like 3							81	79	80					15																	81625594		2058	4205	6263	SO:0001819	synonymous_variant	342125					integral to membrane		g.chr15:81625594G>A	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2469C>T	15.37:g.81625594G>A						RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Silent_p.H823H|RP11-761I4.3_ENST00000560973.1_RNA	p.H824H			Q7Z5M5	TMC3_HUMAN			22	2607	-			823						Silent	SNP	ENST00000359440.5	37	c.2472C>T	CCDS45324.1																																																																																				0.527	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		17	20	0	0	0	1	0	17	20					A	81625594	G	A	81625594	2	1	435	1	0	0	0	0	0	0	0	1	15983	1136	40	1		1	TMC3	15	81625594	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32997	81625594	20905798	6638	27563											
MEX3B	84206	broad.mit.edu	37	chr15	82336500	82336500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgtggaagtcgttctcGtctgtgagctcaatgatgcc	6	13	13	9	3	3	2	1	2	2	0	5	3	3	3	1	2	2	2	1	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:82336500G>A	ENST00000329713.4	-	2	1146	c.711C>T	c.(709-711)gaC>gaT	p.D237D	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	237					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						AGTCGTTCTCGTCTGTGAGCT	0.632																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(709-711)gaC>gaT		mex-3 RNA binding family member B							141	127	132					15																	82336500		2203	4300	6503	SO:0001819	synonymous_variant	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82336500G>A	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	25297	protein-coding gene	gene with protein product		611008	"ring finger and KH domain containing 3", "mex-3 homolog B (C. elegans)"	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.711C>T	15.37:g.82336500G>A						MEX3B_ENST00000558133.1_3'UTR	p.D237D	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN			2	1146	-			237					Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	37	c.711C>T	CCDS10319.1																																																																																				0.632	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		14	100	0	0	0	1	0	14	100					A	82336500	G	A	82336500	2	1	435	1	0	0	0	0	0	0	0	1	9510	1136	40	1		1	MEX3B	15	82336500	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	710906	82336500	20194892	6639	27564											
FAM154B	283726	broad.mit.edu	37	chr15	82574587	82574587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttcctcaggagataaaGcctaggcaaagctttaaacc	13	11	8	9	0	1	1	1	0	0	1	2	2	2	1	3	2	3	3	3	2	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:82574587G>T	ENST00000339465.5	+	3	450	c.381G>T	c.(379-381)aaG>aaT	p.K127N	FAM154B_ENST00000427381.2_Missense_Mutation_p.K112N|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	127										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						AGGAGATAAAGCCTAGGCAAA	0.398																																						ENST00000339465.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						c.(379-381)aaG>aaT		family with sequence similarity 154, member B							138	139	139					15																	82574587		2203	4300	6503	SO:0001583	missense	283726							g.chr15:82574587G>T	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.381G>T	15.37:g.82574587G>T	ENSP00000340445:p.Lys127Asn					FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.K112N	p.K127N	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN			3	450	+			127					B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	c.381G>T	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	G	5.145	0.212345	0.09757	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.16897	2.31;2.31	3.34	2.41	0.29592	.	0.714754	0.12942	N	0.426494	T	0.11239	0.0274	L	0.35288	1.05	0.31880	N	0.618556	B;B	0.19445	0.007;0.036	B;B	0.17722	0.013;0.019	T	0.20940	-1.0260	10	0.18710	T	0.47	-8.7308	6.436	0.21823	0.1067:0.0:0.6671:0.2262	.	112;127	B4E2M2;Q658L1	.;F154B_HUMAN	N	127;112	ENSP00000340445:K127N;ENSP00000403743:K112N	ENSP00000340445:K127N	K	+	3	2	FAM154B	80361642	0.562000	0.26586	0.545000	0.28153	0.876000	0.50452	0.122000	0.15687	0.967000	0.38186	0.536000	0.68110	AAG		0.398	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		56	88	1	0	2.73361e-28	1	3.05982e-28	56	88					T	82574587	G	T	82574587	3	4	435	1	0	0	0	0	1	0	0	0	5464	962	34	5	391	5	FAM154B	15	82574587	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	238087	82574587	19956805	6640	27565											
FAM154B	283726	broad.mit.edu	37	chr15	82575034	82575034	+	Frame_Shift_Del	DEL	T	T	-																															tctcaaaaaagaagtaacaaTtttcctttccaaggaaaaag																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:82575034delT	ENST00000339465.5	+	3	897	c.828delT	c.(826-828)aatfs	p.N276fs	FAM154B_ENST00000427381.2_Frame_Shift_Del_p.N261fs|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	276										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GAAGTAACAATTTTCCTTTCC	0.413																																						ENST00000339465.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						c.(826-828)aafs		family with sequence similarity 154, member B							72	71	71					15																	82575034		2203	4300	6503	SO:0001589	frameshift_variant	283726							g.chr15:82575034delT	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.828delT	15.37:g.82575034delT	ENSP00000340445:p.Asn276fs					FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Frame_Shift_Del_p.N261fs	p.N276fs	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN			3	897	+			276					B4E2M2	Frame_Shift_Del	DEL	ENST00000339465.5	37	c.828delT	CCDS32310.1																																																																																				0.413	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		25	58						25	58	---	---	---	---	-	82575034	T	-	82575034	7	5	435	1	0	1	0	1	0	0	0	0	5464	1490	52	0	838	0	FAM154B	15	82575034	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	447	82575034	19956358	6641	27566											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84685161	84685161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggccagagagtagaatcGtatttctgcaaggacataaa	15	9	11	6	1	1	2	0	0	1	2	2	5	1	3	1	2	1	3	1	2	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:84685161G>A	ENST00000286744.5	+	25	4407	c.4183G>A	c.(4183-4185)Gta>Ata	p.V1395I	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V1395I	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1395						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGTAGAATCGTATTTCTGCA	0.423																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(4183-4185)Gta>Ata		ADAMTS-like 3							93	82	86					15																	84685161		2203	4299	6502	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84685161G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4183G>A	15.37:g.84685161G>A	ENSP00000286744:p.Val1395Ile					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V1395I	p.V1395I	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		25	4407	+			1395					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.4183G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	7.969	0.748707	0.15710	.	.	ENSG00000156218	ENST00000286744	T	0.64438	-0.1	4.83	-0.0975	0.13632	.	1.198360	0.06526	N	0.740628	T	0.32526	0.0832	N	0.04508	-0.205	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.09377	0.004;0.001	T	0.14811	-1.0459	10	0.18276	T	0.48	.	2.0183	0.03503	0.2045:0.1556:0.4813:0.1586	.	1395;1395	P82987-2;P82987	.;ATL3_HUMAN	I	1395	ENSP00000286744:V1395I	ENSP00000286744:V1395I	V	+	1	0	ADAMTSL3	82476165	0.000000	0.05858	0.001000	0.08648	0.179000	0.23085	0.102000	0.15272	0.076000	0.16826	-0.224000	0.12420	GTA		0.423	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		10	15	0	0	0	1	0	10	15					A	84685161	G	A	84685161	3	1	435	1	0	0	0	0	1	0	0	0	276	1145	40	1	4277	1	ADAMTSL3	15	84685161	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2110127	84685161	17846231	6642	27567											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164690	85164690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaaccctaccagtgcagcGagtgtgggaaaagcttcagc	13	6	12	10	1	1	1	1	0	0	1	1	3	1	2	2	1	6	2	2	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:85164690G>A	ENST00000448803.2	+	3	1556	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E421K|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E422K|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E272K	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	422					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCAGTGCAGCGAGTGTGGGAA	0.567																																						ENST00000448803.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19						c.(1264-1266)Gag>Aag		zinc finger and SCAN domain containing 2							76	69	72					15																	85164690		2203	4299	6502	SO:0001583	missense	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85164690G>A	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"-", "Zinc fingers, C2H2-type"	20994	protein-coding gene	gene with protein product			"zinc finger protein 29"	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1264G>A	15.37:g.85164690G>A	ENSP00000410198:p.Glu422Lys					ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E422K|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E421K|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E272K|ZSCAN2_ENST00000485222.2_Intron	p.E422K	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	1556	+			422					A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	37	c.1264G>A	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645267	0.47258	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.35605	1.3;1.3;3.2;1.3	4.75	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.108239	0.41194	D	0.000937	T	0.32823	0.0842	N	0.11154	0.105	0.80722	D	1	D;P	0.69078	0.997;0.862	P;B	0.60415	0.874;0.136	T	0.07404	-1.0774	9	.	.	.	-33.9113	12.0421	0.53458	0.0:0.1758:0.8242:0.0	.	422;422	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	K	422;422;272;421;403	ENSP00000410198:E422K;ENSP00000445451:E422K;ENSP00000351257:E272K;ENSP00000325123:E421K	.	E	+	1	0	ZSCAN2	82965694	0.031000	0.19500	0.914000	0.36105	0.340000	0.28889	1.015000	0.29963	2.167000	0.68274	0.655000	0.94253	GAG		0.567	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		8	44	0	0	0	1	0	8	44					A	85164690	G	A	85164690	3	1	435	1	0	0	0	0	1	0	0	0	18228	1059	37	2	1360	2	ZSCAN2	15	85164690	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	479529	85164690	17366702	6643	27568											
ZNF592	9640	broad.mit.edu	37	chr15	85326360	85326360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagcccagaacctgaggatCccatcaaagataacggattt	14	7	8	12	1	1	3	1	1	0	2	2	5	2	5	4	2	3	0	4	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:85326360C>T	ENST00000560079.2	+	4	742	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	ZNF592_ENST00000299927.3_Missense_Mutation_p.P152S	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	152					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACCTGAGGATCCCATCAAAGA	0.557																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(454-456)Ccc>Tcc		zinc finger protein 592							132	141	138					15																	85326360		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85326360C>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.454C>T	15.37:g.85326360C>T	ENSP00000452877:p.Pro152Ser					ZNF592_ENST00000560079.2_Missense_Mutation_p.P152S	p.P152S			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		1	476	+			152					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.454C>T	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	0.262	-0.998621	0.02128	.	.	ENSG00000166716	ENST00000299927	T	0.00593	6.34	6.06	1.12	0.20585	.	0.234846	0.45606	D	0.000345	T	0.00241	0.0007	N	0.02011	-0.69	0.29479	N	0.856507	B	0.10296	0.003	B	0.06405	0.002	T	0.33214	-0.9877	10	0.11182	T	0.66	-7.228	0.45	0.00500	0.2802:0.2169:0.2979:0.205	.	152	Q92610	ZN592_HUMAN	S	152	ENSP00000299927:P152S	ENSP00000299927:P152S	P	+	1	0	ZNF592	83127364	0.000000	0.05858	0.690000	0.30148	0.835000	0.47333	-0.263000	0.08670	-0.030000	0.13804	-0.137000	0.14449	CCC		0.557	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		62	131	0	0	0	1	0	62	131					T	85326360	C	T	85326360	3	4	435	1	0	0	0	0	1	0	0	0	18019	855	30	3	456	3	ZNF592	15	85326360	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	161670	85326360	17205032	6644	27569											
ZNF592	9640	broad.mit.edu	37	chr15	85327309	85327309	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcagttctgggccccGggtcccaaagggggctgccc	5	6	15	15	1	1	0	0	0	1	0	2	0	2	0	4	4	3	4	4	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:85327309G>C	ENST00000560079.2	+	4	1691	c.1403G>C	c.(1402-1404)cGg>cCg	p.R468P	ZNF592_ENST00000299927.3_Missense_Mutation_p.R468P	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	468					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCTGGGCCCCGGGTCCCAAAG	0.637																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(1402-1404)cGg>cCg		zinc finger protein 592							37	39	38					15																	85327309		2203	4298	6501	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85327309G>C	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1403G>C	15.37:g.85327309G>C	ENSP00000452877:p.Arg468Pro					ZNF592_ENST00000560079.2_Missense_Mutation_p.R468P	p.R468P			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		1	1425	+			468					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.1403G>C	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	4.444	0.082268	0.08533	.	.	ENSG00000166716	ENST00000299927	T	0.00612	6.22	5.21	0.837	0.18896	.	0.764989	0.12670	N	0.448856	T	0.00496	0.0016	N	0.14661	0.345	0.09310	N	1	P	0.39831	0.69	B	0.38880	0.284	T	0.51748	-0.8666	10	0.23302	T	0.38	-4.7745	6.2581	0.20885	0.2332:0.2497:0.5172:0.0	.	468	Q92610	ZN592_HUMAN	P	468	ENSP00000299927:R468P	ENSP00000299927:R468P	R	+	2	0	ZNF592	83128313	0.000000	0.05858	0.027000	0.17364	0.802000	0.45316	0.322000	0.19576	0.035000	0.15519	-0.797000	0.03246	CGG		0.637	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		12	14	0	0	0	1	0	12	14					C	85327309	G	C	85327309	3	2	435	1	0	0	0	0	1	0	0	0	18019	1116	39	5	1405	5	ZNF592	15	85327309	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	949	85327309	17204083	6645	27570											
ZNF592	9640	broad.mit.edu	37	chr15	85343171	85343171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccctgatttgagccagaCgtccaaagtgaaacctccgg	13	7	9	12	2	0	4	0	3	0	1	2	4	2	4	5	1	3	0	5	1	3	1	rs118045501		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:85343171C>T	ENST00000560079.2	+	10	3524	c.3236C>T	c.(3235-3237)aCg>aTg	p.T1079M	ZNF592_ENST00000299927.3_Missense_Mutation_p.T1079M	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	1079					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTGAGCCAGACGTCCAAAGTG	0.582													C|||	1	0.000199681	0	0	5008	,	,		21402	0		0.001	False		,,,				2504	0					ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(3235-3237)aCg>aTg		zinc finger protein 592		C	MET/THR	6,4400	9.9+/-24.2	0,6,2197	118	116	117		3236	5.6	1	15	dbSNP_132	117	5,8593	4.3+/-15.6	0,5,4294	yes	missense	ZNF592	NM_014630.2	81	0,11,6491	TT,TC,CC		0.0582,0.1362,0.0846	benign	1079/1268	85343171	11,12993	2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85343171C>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.3236C>T	15.37:g.85343171C>T	ENSP00000452877:p.Thr1079Met					ZNF592_ENST00000560079.2_Missense_Mutation_p.T1079M	p.T1079M			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		7	3258	+			1079					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.3236C>T	CCDS32317.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.439	1.087512	0.20390	0.001362	5.82E-4	ENSG00000166716	ENST00000299927	T	0.00614	6.21	5.64	5.64	0.86602	.	0.216457	0.46758	D	0.000270	T	0.00468	0.0015	N	0.04508	-0.205	0.33654	D	0.608867	B	0.11235	0.004	B	0.13407	0.009	T	0.57236	-0.7846	10	0.34782	T	0.22	-9.6088	10.6094	0.45412	0.0:0.9128:0.0:0.0872	.	1079	Q92610	ZN592_HUMAN	M	1079	ENSP00000299927:T1079M	ENSP00000299927:T1079M	T	+	2	0	ZNF592	83144175	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	5.800000	0.69108	2.660000	0.90430	0.563000	0.77884	ACG		0.582	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		29	43	0	0	0	1	0	29	43					T	85343171	C	T	85343171	3	4	435	1	0	0	0	0	1	0	0	0	18019	536	19	1	3262	1	ZNF592	15	85343171	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15862	85343171	17188221	6646	27571											
ZNF592	9640	broad.mit.edu	37	chr15	85345395	85345395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaggaggcggcggcagCggagatggcagtggaggtgg	9	3	24	5	3	0	2	0	0	0	2	0	6	0	5	0	10	1	2	0	10	1	0	rs369443891		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:85345395C>T	ENST00000560079.2	+	11	3863	c.3575C>T	c.(3574-3576)gCg>gTg	p.A1192V	ZNF592_ENST00000299927.3_Missense_Mutation_p.A1192V	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	1192					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			gCGGCGGCAGCGGAGATGGCA	0.622													C|||	1	0.000199681	0	0	5008	,	,		18495	0		0	False		,,,				2504	0.001					ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(3574-3576)gCg>gTg		zinc finger protein 592		C	VAL/ALA	1,4393		0,1,2196	11	13	13		3575	-3.5	0	15		13	0,8530		0,0,4265	no	missense	ZNF592	NM_014630.2	64	0,1,6461	TT,TC,CC		0.0,0.0228,0.0077	benign	1192/1268	85345395	1,12923	2197	4265	6462	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85345395C>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.3575C>T	15.37:g.85345395C>T	ENSP00000452877:p.Ala1192Val					ZNF592_ENST00000560079.2_Missense_Mutation_p.A1192V	p.A1192V			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		8	3597	+			1192					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.3575C>T	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.365626	0.01235	2.28E-4	0.0	ENSG00000166716	ENST00000299927	T	0.00622	6.16	3.27	-3.49	0.04724	.	.	.	.	.	T	0.00468	0.0015	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40905	-0.9538	9	0.27785	T	0.31	-0.3426	3.9788	0.09486	0.1612:0.326:0.0:0.5128	.	1192	Q92610	ZN592_HUMAN	V	1192	ENSP00000299927:A1192V	ENSP00000299927:A1192V	A	+	2	0	ZNF592	83146399	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.703000	0.05063	-0.339000	0.08401	-0.749000	0.03505	GCG		0.622	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		8	7	0	0	0	1	0	8	7					T	85345395	C	T	85345395	3	4	435	1	0	0	0	0	1	0	0	0	18019	768	27	1	3605	1	ZNF592	15	85345395	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2224	85345395	17185997	6647	27572											
ALPK3	57538	broad.mit.edu	37	chr15	85384034	85384034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtcaagctccagaatgCggggcccagagcttaggaaa	12	6	13	10	1	1	3	1	1	0	2	2	4	2	4	2	3	3	2	2	3	4	1	rs142698933		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:85384034C>T	ENST00000258888.5	+	5	2297	c.2130C>T	c.(2128-2130)tgC>tgT	p.C710C		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	710					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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)			CTCCAGAATGCGGGGCCCAGA	0.612																																						ENST00000258888.5																			0				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						c.(2128-2130)tgC>tgT		alpha-kinase 3		C		0,4406	2.1+/-5.4	0,0,2203	40	42	41		2130	-10.3	0	15	dbSNP_134	41	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ALPK3	NM_020778.4		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		710/1908	85384034	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85384034C>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2130C>T	15.37:g.85384034C>T							p.C710C	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	2297	+			710					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.2130C>T	CCDS10333.1																																																																																				0.612	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		12	19	0	0	0	1	0	12	19					T	85384034	C	T	85384034	2	4	435	1	0	0	0	0	0	0	0	1	546	776	27	1		1	ALPK3	15	85384034	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	38639	85384034	17147358	6648	27573											
PDE8A	5151	broad.mit.edu	37	chr15	85652350	85652350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaaagctgttgcctcccGtgcaactgaaggtgagtgac	9	9	12	11	2	1	3	1	3	0	0	2	3	2	3	2	1	4	3	2	1	3	1	rs536962158		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:85652350G>A	ENST00000310298.4	+	13	1355	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000557957.1_Missense_Mutation_p.R296H|PDE8A_ENST00000339708.5_Missense_Mutation_p.R322H|PDE8A_ENST00000394553.1_Missense_Mutation_p.R368H			O60658	PDE8A_HUMAN	phosphodiesterase 8A	368					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			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)		Caffeine(DB00201)|Ketotifen(DB00920)	GTTGCCTCCCGTGCAACTGAA	0.448													G|||	1	0.000199681	0	0	5008	,	,		19358	0		0	False		,,,				2504	0.001					ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(1102-1104)cGt>cAt		phosphodiesterase 8A							94	89	90					15																	85652350		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85652350G>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1103G>A	15.37:g.85652350G>A	ENSP00000311453:p.Arg368His					PDE8A_ENST00000339708.5_Missense_Mutation_p.R322H|PDE8A_ENST00000557957.1_Missense_Mutation_p.R296H|PDE8A_ENST00000394553.1_Missense_Mutation_p.R368H|PDE8A_ENST00000557819.2_3'UTR	p.R368H			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		13	1355	+	Colorectal(223;0.227)		368					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.1103G>A	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699751	0.30142	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.69926	-0.44;-0.44;-0.44	4.11	2.24	0.28232	.	1.047140	0.07515	N	0.909650	T	0.70124	0.3188	L	0.58669	1.825	0.20489	N	0.999899	B;D	0.58970	0.127;0.984	B;P	0.52710	0.073;0.707	T	0.54330	-0.8310	10	0.32370	T	0.25	.	7.8376	0.29378	0.2061:0.0:0.7939:0.0	.	322;368	O60658-2;O60658	.;PDE8A_HUMAN	H	368;368;322	ENSP00000311453:R368H;ENSP00000378056:R368H;ENSP00000340679:R322H	ENSP00000311453:R368H	R	+	2	0	PDE8A	83453354	0.997000	0.39634	0.000000	0.03702	0.002000	0.02628	5.659000	0.68010	0.396000	0.25283	-0.346000	0.07831	CGT		0.448	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		4	24	0	0	0	1	0	4	24					A	85652350	G	A	85652350	3	1	435	1	0	0	0	0	1	0	0	0	11653	1145	40	1	1149	1	PDE8A	15	85652350	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	268316	85652350	16879042	6649	27574											
PDE8A	5151	broad.mit.edu	37	chr15	85681108	85681108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactggacgaaatgaagctgCggaacctccgaccacctcct	11	6	10	14	3	0	1	0	1	0	0	2	6	2	3	5	2	3	1	5	2	3	0	rs552082599	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:85681108C>T	ENST00000310298.4	+	23	2716	c.2464C>T	c.(2464-2466)Cgg>Tgg	p.R822W	PDE8A_ENST00000557957.1_Missense_Mutation_p.R750W|PDE8A_ENST00000339708.5_Missense_Mutation_p.R776W|PDE8A_ENST00000394553.1_Missense_Mutation_p.R822W			O60658	PDE8A_HUMAN	phosphodiesterase 8A	822					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			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)		Caffeine(DB00201)|Ketotifen(DB00920)	AATGAAGCTGCGGAACCTCCG	0.493													C|||	3	0.000599042	0.0023	0	5008	,	,		20346	0		0	False		,,,				2504	0					ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(2464-2466)Cgg>Tgg		phosphodiesterase 8A							96	80	85					15																	85681108		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85681108C>T	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.2464C>T	15.37:g.85681108C>T	ENSP00000311453:p.Arg822Trp					PDE8A_ENST00000339708.5_Missense_Mutation_p.R776W|PDE8A_ENST00000557957.1_Missense_Mutation_p.R750W|PDE8A_ENST00000394553.1_Missense_Mutation_p.R822W	p.R822W			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		23	2716	+	Colorectal(223;0.227)		822					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.2464C>T	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307731	0.40795	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.72615	-0.67;-0.67;-0.54	5.36	3.45	0.39498	.	0.737275	0.13279	N	0.399888	T	0.67477	0.2897	L	0.29908	0.895	0.36803	D	0.885459	D;D	0.63046	0.992;0.992	P;B	0.54815	0.761;0.38	T	0.69105	-0.5233	10	0.87932	D	0	.	6.5897	0.22639	0.3157:0.6017:0.0:0.0826	.	776;822	O60658-2;O60658	.;PDE8A_HUMAN	W	822;822;776	ENSP00000311453:R822W;ENSP00000378056:R822W;ENSP00000340679:R776W	ENSP00000311453:R822W	R	+	1	2	PDE8A	83482112	0.993000	0.37304	0.854000	0.33618	0.026000	0.11368	0.790000	0.26900	0.796000	0.33947	0.561000	0.74099	CGG		0.493	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		13	18	0	0	0	1	0	13	18					T	85681108	C	T	85681108	3	4	435	1	0	0	0	0	1	0	0	0	11653	759	27	1	2550	1	PDE8A	15	85681108	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	28758	85681108	16850284	6650	27575											
AKAP13	11214	broad.mit.edu	37	chr15	86207816	86207816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagtctagaaggcttgacaGgaggagctggtgtcggaaac	11	8	15	7	1	2	2	1	1	1	1	3	5	2	5	0	5	2	2	0	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:86207816G>A	ENST00000394518.2	+	13	4917	c.4822G>A	c.(4822-4824)Gga>Aga	p.G1608R	RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.G1612R|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1608					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			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						AGGCTTGACAGGAGGAGCTGG	0.458																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				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						c.(4822-4824)Gga>Aga		A kinase (PRKA) anchor protein 13							117	118	118					15																	86207816		2202	4299	6501	SO:0001583	missense	11214				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	g.chr15:86207816G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4822G>A	15.37:g.86207816G>A	ENSP00000378026:p.Gly1608Arg					RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.G1612R|AKAP13_ENST00000560579.1_3'UTR	p.G1608R	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			13	4917	+			1608					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.4822G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720405	0.89205	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000452008	T;T	0.17528	2.27;2.3	5.64	5.64	0.86602	.	.	.	.	.	T	0.43590	0.1254	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.20075	-1.0286	9	0.87932	D	0	.	19.0647	0.93106	0.0:0.0:1.0:0.0	.	1590;1608;1612	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	R	1612;1608;1611;1589;230	ENSP00000354718:G1612R;ENSP00000378026:G1608R	ENSP00000354718:G1612R	G	+	1	0	AKAP13	84008820	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.920000	0.56446	2.820000	0.97059	0.650000	0.86243	GGA		0.458	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		19	67	0	0	0	1	0	19	67					A	86207816	G	A	86207816	3	1	435	1	0	0	0	0	1	0	0	0	449	1001	35	3	4938	3	AKAP13	15	86207816	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	526708	86207816	16323576	6651	27576											
AKAP13	11214	broad.mit.edu	37	chr15	86266404	86266404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagttatgaaaagaaagtgCgtctcaatgagatttataca	17	11	8	5	1	1	3	1	2	1	2	2	4	1	3	0	0	2	1	0	0	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:86266404C>T	ENST00000394518.2	+	26	6693	c.6598C>T	c.(6598-6600)Cgt>Tgt	p.R2200C	AKAP13_ENST00000394510.2_Missense_Mutation_p.R445C|RP11-158M2.2_ENST00000561417.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.R2204C|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2200	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			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						AAAGAAAGTGCGTCTCAATGA	0.428																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				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						c.(6598-6600)Cgt>Tgt		A kinase (PRKA) anchor protein 13							155	133	141					15																	86266404		2202	4299	6501	SO:0001583	missense	11214				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	g.chr15:86266404C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6598C>T	15.37:g.86266404C>T	ENSP00000378026:p.Arg2200Cys					AKAP13_ENST00000361243.2_Missense_Mutation_p.R2204C|AKAP13_ENST00000394510.2_Missense_Mutation_p.R445C|AKAP13_ENST00000560579.1_3'UTR	p.R2200C	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			26	6693	+			2200			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.6598C>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059882	0.76074	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.70399	-0.48;-0.48;-0.48	5.83	4.86	0.63082	Dbl homology (DH) domain (2);	.	.	.	.	D	0.84597	0.5507	M	0.83774	2.66	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.86499	0.1802	9	0.87932	D	0	.	14.8374	0.70194	0.1442:0.8558:0.0:0.0	.	2180;2200;2204	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	C	280;2204;2200;2203;2179;445	ENSP00000354718:R2204C;ENSP00000378026:R2200C;ENSP00000378018:R445C	ENSP00000354718:R2204C	R	+	1	0	AKAP13	84067408	0.921000	0.31238	0.971000	0.41717	0.997000	0.91878	1.884000	0.39668	2.749000	0.94314	0.655000	0.94253	CGT		0.428	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		15	24	0	0	0	1	0	15	24					T	86266404	C	T	86266404	3	4	435	1	0	0	0	0	1	0	0	0	449	768	27	1	6766	1	AKAP13	15	86266404	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	58588	86266404	16264988	6652	27577											
AKAP13	11214	broad.mit.edu	37	chr15	86284577	86284577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaggacctggaaaaggagCgggaggagctccagcagaag	14	2	17	8	1	0	1	0	0	0	1	1	6	1	6	2	5	4	3	2	5	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:86284577C>T	ENST00000394518.2	+	35	8004	c.7909C>T	c.(7909-7911)Cgg>Tgg	p.R2637W	AKAP13_ENST00000394510.2_Missense_Mutation_p.R882W|AKAP13_ENST00000361243.2_Missense_Mutation_p.R2641W|AKAP13_ENST00000560579.1_3'UTR|RP11-158M2.3_ENST00000558375.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2637	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			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						GGAAAAGGAGCGGGAGGAGCT	0.652																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				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						c.(7909-7911)Cgg>Tgg		A kinase (PRKA) anchor protein 13							44	41	42					15																	86284577		2199	4298	6497	SO:0001583	missense	11214				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	g.chr15:86284577C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7909C>T	15.37:g.86284577C>T	ENSP00000378026:p.Arg2637Trp					AKAP13_ENST00000361243.2_Missense_Mutation_p.R2641W|AKAP13_ENST00000394510.2_Missense_Mutation_p.R882W|AKAP13_ENST00000560579.1_3'UTR	p.R2637W	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			35	8004	+			2637			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.7909C>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601763	0.28534	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.27402	1.67;1.67;1.67	5.47	1.15	0.20763	.	.	.	.	.	T	0.32526	0.0832	M	0.83118	2.625	0.09310	N	1	B;B	0.22211	0.039;0.066	B;B	0.12156	0.003;0.007	T	0.40136	-0.9579	9	0.87932	D	0	.	4.0013	0.09580	0.2726:0.4892:0.0:0.2382	.	2637;2641	Q12802;Q12802-2	AKP13_HUMAN;.	W	2641;2637;2640;2616;882	ENSP00000354718:R2641W;ENSP00000378026:R2637W;ENSP00000378018:R882W	ENSP00000354718:R2641W	R	+	1	2	AKAP13	84085581	0.003000	0.15002	0.000000	0.03702	0.739000	0.42172	0.883000	0.28200	0.229000	0.21039	-0.345000	0.07892	CGG		0.652	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		7	13	0	0	0	1	0	7	13					T	86284577	C	T	86284577	3	4	435	1	0	0	0	0	1	0	0	0	449	759	27	1	8113	1	AKAP13	15	86284577	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18173	86284577	16246815	6653	27578											
AKAP13	11214	broad.mit.edu	37	chr15	86284631	86284631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtatgacctggagcgactgCgtgctgcccagaaacagctt	10	8	12	11	2	0	2	0	1	0	1	0	4	0	3	2	1	6	3	2	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:86284631C>T	ENST00000394518.2	+	35	8058	c.7963C>T	c.(7963-7965)Cgt>Tgt	p.R2655C	AKAP13_ENST00000394510.2_Missense_Mutation_p.R900C|AKAP13_ENST00000361243.2_Missense_Mutation_p.R2659C|AKAP13_ENST00000560579.1_3'UTR|RP11-158M2.3_ENST00000558375.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2655	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAGCGACTGCGTGCTGCCCA	0.632																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				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						c.(7963-7965)Cgt>Tgt		A kinase (PRKA) anchor protein 13							46	43	44					15																	86284631		2200	4299	6499	SO:0001583	missense	11214				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	g.chr15:86284631C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7963C>T	15.37:g.86284631C>T	ENSP00000378026:p.Arg2655Cys					AKAP13_ENST00000361243.2_Missense_Mutation_p.R2659C|AKAP13_ENST00000394510.2_Missense_Mutation_p.R900C|AKAP13_ENST00000560579.1_3'UTR	p.R2655C	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			35	8058	+			2655			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.7963C>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417009	0.62511	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.28069	1.63;1.63;1.63	5.47	5.47	0.80525	.	.	.	.	.	T	0.57636	0.2067	M	0.84082	2.675	0.48901	D	0.999722	D;D	0.89917	1.0;1.0	D;D	0.74023	0.959;0.982	T	0.63001	-0.6734	9	0.87932	D	0	.	13.3093	0.60370	0.1579:0.8421:0.0:0.0	.	2655;2659	Q12802;Q12802-2	AKP13_HUMAN;.	C	2659;2655;2658;2634;900	ENSP00000354718:R2659C;ENSP00000378026:R2655C;ENSP00000378018:R900C	ENSP00000354718:R2659C	R	+	1	0	AKAP13	84085635	1.000000	0.71417	0.994000	0.49952	0.598000	0.36846	2.824000	0.48088	2.554000	0.86153	0.655000	0.94253	CGT		0.632	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		9	15	0	0	0	1	0	9	15					T	86284631	C	T	86284631	3	4	435	1	0	0	0	0	1	0	0	0	449	768	27	1	8167	1	AKAP13	15	86284631	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	54	86284631	16246761	6654	27579											
KLHL25	64410	broad.mit.edu	37	chr15	86312337	86312337	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcaaggccagacgcacGctgcggaggagctcgggcaa	10	2	17	12	4	0	1	0	0	0	1	1	3	0	3	1	5	3	6	1	5	2	0	rs369313286		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:86312337G>A	ENST00000337975.5	-	2	979	c.705C>T	c.(703-705)agC>agT	p.S235S	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000536947.1_Silent_p.S235S|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	235	BACK.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)		p.S235S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCAGACGCACGCTGCGGAGGA	0.657																																						ENST00000337975.5																			1	Substitution - coding silent(1)	p.S235S(1)	upper_aerodigestive_tract(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(703-705)agC>agT		kelch-like family member 25							42	35	37					15																	86312337		2202	4299	6501	SO:0001819	synonymous_variant	64410					cytoplasm		g.chr15:86312337G>A		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"Kelch-like", "BTB/POZ domain containing"	25732	protein-coding gene	gene with protein product	"ectodermal-neural cortex 2"		"kelch-like 25 (Drosophila)"				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.705C>T	15.37:g.86312337G>A						KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Silent_p.S235S	p.S235S	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN			2	979	-			235					B2RDH2|B3KRT7	Silent	SNP	ENST00000337975.5	37	c.705C>T	CCDS10339.1																																																																																				0.657	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		4	12	0	0	0	1	0	4	12					A	86312337	G	A	86312337	2	1	435	1	0	0	0	0	0	0	0	1	8380	1078	38	1		1	KLHL25	15	86312337	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27706	86312337	16219055	6655	27580											
AGBL1	123624	broad.mit.edu	37	chr15	86697775	86697775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtctctgggctctgcGtgtgtttgcctccagtggta	3	14	12	12	1	2	0	0	0	2	0	4	0	3	0	3	2	2	3	3	2	1	2	rs182802715	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:86697775G>A	ENST00000441037.2	+	3	334	c.239G>A	c.(238-240)cGt>cAt	p.R80H	AGBL1_ENST00000421325.2_Missense_Mutation_p.R80H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	80					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			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						TGGGCTCTGCGTGTGTTTGCC	0.537													G|||	2	0.000399361	0	0.0029	5008	,	,		20185	0		0	False		,,,				2504	0					ENST00000441037.2																			0				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						c.(238-240)cGt>cAt		ATP/GTP binding protein-like 1							99	100	99					15																	86697775		2029	4193	6222	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86697775G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.239G>A	15.37:g.86697775G>A	ENSP00000413001:p.Arg80His					AGBL1_ENST00000421325.2_Missense_Mutation_p.R80H	p.R80H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			3	334	+			80					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.239G>A	CCDS58398.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	22.0	4.227315	0.79576	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.45668	0.89	5.4	4.25	0.50352	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.43299	0.1241	M	0.78637	2.42	0.80722	D	1	D	0.58970	0.984	P	0.51945	0.685	T	0.53683	-0.8404	9	0.87932	D	0	-10.842	6.8999	0.24277	0.1495:0.0:0.8505:0.0	.	80	Q96MI9	CBPC4_HUMAN	H	109;80	ENSP00000397173:R80H	ENSP00000397173:R80H	R	+	2	0	AGBL1	84498779	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.438000	0.44837	2.683000	0.91414	0.650000	0.86243	CGT		0.537	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		14	13	0	0	0	1	0	14	13					A	86697775	G	A	86697775	3	1	435	1	0	0	0	0	1	0	0	0	375	1145	40	1	245	1	AGBL1	15	86697775	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	385438	86697775	15833617	6656	27581											
AEN	64782	broad.mit.edu	37	chr15	89172628	89172628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtctctctaaaggacctgGccctgcagctgctgcacaag	8	8	12	13	0	2	0	0	0	2	0	3	1	2	1	2	3	4	4	2	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:89172628G>A	ENST00000332810.3	+	3	863	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	AEN_ENST00000379231.3_Missense_Mutation_p.A238T	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	238	Exonuclease.				intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAAGGACCTGGCCCTGCAGCT	0.652																																						ENST00000332810.3																			0				NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(712-714)Gcc>Acc		apoptosis enhancing nuclease							44	49	47					15																	89172628		2200	4299	6499	SO:0001583	missense	64782				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	g.chr15:89172628G>A	BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"interferon stimulated exonuclease gene 20kDa-like 1"	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.712G>A	15.37:g.89172628G>A	ENSP00000331944:p.Ala238Thr					AEN_ENST00000379231.3_Missense_Mutation_p.A238T	p.A238T	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN			3	863	+			238			Exonuclease.		C9J571|Q9BSA5|Q9H9X7	Missense_Mutation	SNP	ENST00000332810.3	37	c.712G>A	CCDS10344.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506372	0.64410	.	.	ENSG00000181026	ENST00000332810;ENST00000379231	T;T	0.26518	1.73;1.73	5.6	4.63	0.57726	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.093179	0.45361	D	0.000374	T	0.27900	0.0687	N	0.20304	0.555	0.43942	D	0.996602	P;P	0.36438	0.498;0.553	P;P	0.51806	0.551;0.68	T	0.03503	-1.1030	10	0.13470	T	0.59	-1.1628	14.3846	0.66934	0.0:0.0:0.8517:0.1483	.	238;238	Q8WTP8-2;Q8WTP8	.;AEN_HUMAN	T	238	ENSP00000331944:A238T;ENSP00000368533:A238T	ENSP00000331944:A238T	A	+	1	0	AEN	86973632	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.774000	0.47694	2.644000	0.89710	0.655000	0.94253	GCC		0.652	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309071.1	NM_022767		7	48	0	0	0	1	0	7	48					A	89172628	G	A	89172628	3	1	435	1	0	0	0	0	1	0	0	0	351	1203	42	3	718	3	AEN	15	89172628	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2474853	89172628	13358764	6657	27582											
ACAN	176	broad.mit.edu	37	chr15	89382166	89382166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actacccggccatccccagtGacgccaccttggaagtccag	9	6	9	17	2	0	1	0	1	0	0	2	2	2	2	7	2	1	0	7	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:89382166G>A	ENST00000561243.1	+	2	343	c.343G>A	c.(343-345)Gac>Aac	p.D115N	ACAN_ENST00000558207.1_Missense_Mutation_p.D115N|ACAN_ENST00000439576.2_Missense_Mutation_p.D115N|ACAN_ENST00000559004.1_Missense_Mutation_p.D115N|ACAN_ENST00000352105.7_Missense_Mutation_p.D115N			P16112	PGCA_HUMAN	aggrecan	115	G1-A.|Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CATCCCCAGTGACGCCACCTT	0.622																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(343-345)Gac>Aac		aggrecan							130	151	143					15																	89382166		2144	4261	6405	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89382166G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.343G>A	15.37:g.89382166G>A	ENSP00000453342:p.Asp115Asn					ACAN_ENST00000352105.7_Missense_Mutation_p.D115N|ACAN_ENST00000559004.1_Missense_Mutation_p.D115N|ACAN_ENST00000561243.1_Missense_Mutation_p.D115N|ACAN_ENST00000558207.1_Missense_Mutation_p.D115N	p.D115N	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		3	717	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		115					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.343G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602653	0.87157	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02682	4.2;4.2	5.36	5.36	0.76844	.	.	.	.	.	T	0.13372	0.0324	L	0.58510	1.815	0.52501	D	0.999955	D;D;P	0.89917	1.0;1.0;0.937	D;D;D	0.85130	0.997;0.997;0.923	T	0.00348	-1.1799	9	0.46703	T	0.11	-29.1174	18.4414	0.90667	0.0:0.0:1.0:0.0	.	115;115;115	E7ENV9;E7EX88;Q6PID9	.;.;.	N	115	ENSP00000387356:D115N;ENSP00000341615:D115N	ENSP00000268134:D115N	D	+	1	0	ACAN	87183170	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.715000	0.98748	2.689000	0.91719	0.591000	0.81541	GAC		0.622	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		46	56	0	0	0	1	0	46	56					A	89382166	G	A	89382166	3	1	435	1	0	0	0	0	1	0	0	0	117	1290	45	3	349	3	ACAN	15	89382166	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	209538	89382166	13149226	6658	27583											
ABHD2	11057	broad.mit.edu	37	chr15	89698746	89698746	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacattgaattgacctcGccacgcatgttcacctatgg	10	10	7	14	2	1	2	1	2	0	0	2	2	1	2	4	1	1	2	4	1	3	4	rs139707395		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:89698746G>A	ENST00000352732.5	+	5	1039	c.519G>A	c.(517-519)tcG>tcA	p.S173S	ABHD2_ENST00000355100.3_Silent_p.S173S|ABHD2_ENST00000565973.1_Silent_p.S173S	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	173					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			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)					AATTGACCTCGCCACGCATGT	0.488													G|||	1	0.000199681	8e-04	0	5008	,	,		21941	0		0	False		,,,				2504	0				Colon(11;252 417 24570 33239 41878)	ENST00000352732.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(517-519)tcG>tcA		abhydrolase domain containing 2		G	,	1,4399	2.1+/-5.4	0,1,2199	136	116	122		519,519	-11	0.1	15	dbSNP_134	122	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	ABHD2	NM_007011.7,NM_152924.4	,	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	,	173/426,173/426	89698746	1,12997	2200	4299	6499	SO:0001819	synonymous_variant	11057					integral to membrane	carboxylesterase activity	g.chr15:89698746G>A	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"Abhydrolase domain containing"	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.519G>A	15.37:g.89698746G>A						ABHD2_ENST00000565973.1_Silent_p.S173S|ABHD2_ENST00000355100.3_Silent_p.S173S	p.S173S	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN			5	1039	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		173					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Silent	SNP	ENST00000352732.5	37	c.519G>A	CCDS10348.1																																																																																				0.488	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			43	44	0	0	0	1	0	43	44					A	89698746	G	A	89698746	2	1	435	1	0	0	0	0	0	0	0	1	82	1074	38	1		1	ABHD2	15	89698746	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	316580	89698746	12832646	6659	27584											
ABHD2	11057	broad.mit.edu	37	chr15	89734361	89734361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atactatgaggaagaaagttGcatgcggtacctgcacaggg	13	8	13	7	1	0	2	0	1	0	1	0	3	0	3	1	3	5	4	1	3	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:89734361G>A	ENST00000352732.5	+	9	1497	c.977G>A	c.(976-978)tGc>tAc	p.C326Y	ABHD2_ENST00000355100.3_Missense_Mutation_p.C326Y|ABHD2_ENST00000565973.1_Missense_Mutation_p.C326Y	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	326					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			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)					GAAGAAAGTTGCATGCGGTAC	0.463																																					Colon(11;252 417 24570 33239 41878)	ENST00000352732.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(976-978)tGc>tAc		abhydrolase domain containing 2							106	92	97					15																	89734361		2200	4299	6499	SO:0001583	missense	11057					integral to membrane	carboxylesterase activity	g.chr15:89734361G>A	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"Abhydrolase domain containing"	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.977G>A	15.37:g.89734361G>A	ENSP00000268129:p.Cys326Tyr					ABHD2_ENST00000565973.1_Missense_Mutation_p.C326Y|ABHD2_ENST00000355100.3_Missense_Mutation_p.C326Y	p.C326Y	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN			9	1497	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		326					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	c.977G>A	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689837	0.88735	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.61392	0.11;0.11	5.51	5.51	0.81932	Uncharacterised protein family UPF0017, hydrolase-like, conserved site (1);Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.75627	0.3875	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.77088	-0.2717	10	0.66056	D	0.02	-4.8713	19.4277	0.94751	0.0:0.0:1.0:0.0	.	326	P08910	ABHD2_HUMAN	Y	326	ENSP00000268129:C326Y;ENSP00000347217:C326Y	ENSP00000268129:C326Y	C	+	2	0	ABHD2	87535365	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.369000	0.97156	2.568000	0.86640	0.655000	0.94253	TGC		0.463	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			41	58	0	0	0	1	0	41	58					A	89734361	G	A	89734361	3	1	435	1	0	0	0	0	1	0	0	0	82	1319	46	3	1003	3	ABHD2	15	89734361	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	35615	89734361	12797031	6660	27585											
FANCI	55215	broad.mit.edu	37	chr15	89801939	89801939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttctttgcagttgaCtaatctccttcagaatcaag	9	18	5	9	0	5	2	2	1	3	1	6	2	5	2	1	0	1	2	1	0	3	7	rs199713555		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:89801939C>T	ENST00000310775.7	+	3	175	c.89C>T	c.(88-90)aCt>aTt	p.T30I	FANCI_ENST00000300027.8_Missense_Mutation_p.T30I|FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000567996.1_Missense_Mutation_p.T30I	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	30					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			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)					TTGCAGTTGACTAATCTCCTT	0.388								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			0				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						c.(88-90)aCt>aTt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I		C	ILE/THR,ILE/THR	1,4399	2.1+/-5.4	0,1,2199	201	195	197		89,89	3.1	0.3	15		197	0,8598		0,0,4299	no	missense,missense	FANCI	NM_001113378.1,NM_018193.2	89,89	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	30/1329,30/1269	89801939	1,12997	2200	4299	6499	SO:0001583	missense	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89801939C>T	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.89C>T	15.37:g.89801939C>T	ENSP00000310842:p.Thr30Ile					FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.T30I|FANCI_ENST00000567996.1_Missense_Mutation_p.T30I	p.T30I	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			3	175	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		30					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.89C>T	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	C	9.932	1.214976	0.22373	2.27E-4	0.0	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.80214	-1.35;-1.35;-1.35	4.99	3.12	0.35913	.	0.465892	0.18140	N	0.150444	T	0.70081	0.3183	L	0.44542	1.39	0.18873	N	0.999981	B;B	0.15719	0.014;0.003	B;B	0.16722	0.016;0.004	T	0.58983	-0.7539	10	0.42905	T	0.14	0.1008	5.0281	0.14395	0.0:0.536:0.2036:0.2604	.	30;30	Q9NVI1;Q9NVI1-1	FANCI_HUMAN;.	I	30	ENSP00000300027:T30I;ENSP00000310842:T30I;ENSP00000413249:T30I	ENSP00000300027:T30I	T	+	2	0	FANCI	87602943	0.002000	0.14202	0.270000	0.24601	0.957000	0.61999	0.744000	0.26245	0.700000	0.31782	0.313000	0.20887	ACT		0.388	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		29	60	0	0	0	1	0	29	60					T	89801939	C	T	89801939	3	4	435	1	0	0	0	0	1	0	0	0	5669	565	20	3	95	3	FANCI	15	89801939	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	67578	89801939	12729453	6661	27586											
POLG	5428	broad.mit.edu	37	chr15	89866119	89866119	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaaaggggcttcccacattAcagctattaccatcctggac	11	9	8	13	0	0	0	0	0	0	0	2	1	2	1	3	3	3	3	3	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:89866119A>G	ENST00000268124.5	-	14	2613	c.2280T>C	c.(2278-2280)tgT>tgC	p.C760C	POLG_ENST00000442287.2_Silent_p.C760C	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	760					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TTCCCACATTACAGCTATTAC	0.612								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(2278-2280)tgT>tgC	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							104	104	104					15																	89866119		2200	4299	6499	SO:0001819	synonymous_variant	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89866119A>G	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2280T>C	15.37:g.89866119A>G						POLG_ENST00000442287.2_Silent_p.C760C	p.C760C	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		14	2613	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		760					Q8NFM2|Q92515	Silent	SNP	ENST00000268124.5	37	c.2280T>C	CCDS10350.1																																																																																				0.612	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		22	37	0	0	0	1	0	22	37					G	89866119	A	G	89866119	2	3	435	1	0	0	0	0	0	0	0	1	12200	389	14	4		4	POLG	15	89866119	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	64180	89866119	12665273	6662	27587											
RHCG	51458	broad.mit.edu	37	chr15	90019995	90019995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggaactcacctcccagtaGaccgcatcctcaaagcagtt	11	8	7	15	1	2	1	2	0	0	1	4	2	4	2	4	1	2	4	4	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:90019995G>A	ENST00000268122.4	-	9	1370	c.1302C>T	c.(1300-1302)gtC>gtT	p.V434V	RHCG_ENST00000544600.1_Silent_p.V434V	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	434					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CCTCCCAGTAGACCGCATCCT	0.562																																						ENST00000268122.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1300-1302)gtC>gtT		Rh family, C glycoprotein							102	93	96					15																	90019995		2200	4299	6499	SO:0001819	synonymous_variant	51458				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	g.chr15:90019995G>A	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"Solute carriers"	18140	protein-coding gene	gene with protein product		605381	"chromosome 15 open reading frame 6", "Rhesus blood group, C glycoprotein"	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.1302C>T	15.37:g.90019995G>A						RHCG_ENST00000544600.1_Silent_p.V434V	p.V434V	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN			9	1370	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		434					A8K4D4|Q6X3Y4	Silent	SNP	ENST00000268122.4	37	c.1302C>T	CCDS10351.1																																																																																				0.562	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		4	32	0	0	0	1	0	4	32					A	90019995	G	A	90019995	2	1	435	1	0	0	0	0	0	0	0	1	13326	929	33	3		3	RHCG	15	90019995	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	153876	90019995	12511397	6663	27588											
RHCG	51458	broad.mit.edu	37	chr15	90030153	90030153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacggcgctgaagccgtagCgctgcaggaaagtcatgagg	10	5	15	11	4	1	2	1	2	0	0	1	3	1	3	2	3	3	4	2	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:90030153C>T	ENST00000268122.4	-	2	316	c.248G>A	c.(247-249)cGc>cAc	p.R83H	RHCG_ENST00000544600.1_Missense_Mutation_p.R83H	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	83					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GAAGCCGTAGCGCTGCAGGAA	0.627																																						ENST00000268122.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(247-249)cGc>cAc		Rh family, C glycoprotein							73	62	66					15																	90030153		2200	4299	6499	SO:0001583	missense	51458				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	g.chr15:90030153C>T	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"Solute carriers"	18140	protein-coding gene	gene with protein product		605381	"chromosome 15 open reading frame 6", "Rhesus blood group, C glycoprotein"	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.248G>A	15.37:g.90030153C>T	ENSP00000268122:p.Arg83His					RHCG_ENST00000544600.1_Missense_Mutation_p.R83H	p.R83H	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN			2	316	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		83					A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	37	c.248G>A	CCDS10351.1	.	.	.	.	.	.	.	.	.	.	c	34	5.407356	0.96051	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.34859	1.34;1.34	4.85	4.85	0.62838	Ammonium transporter AmtB-like (3);	0.048930	0.85682	D	0.000000	T	0.70544	0.3236	H	0.94620	3.56	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.81223	-0.1030	9	.	.	.	-21.7095	17.9853	0.89154	0.0:1.0:0.0:0.0	.	83	Q9UBD6	RHCG_HUMAN	H	83;83;74	ENSP00000438123:R83H;ENSP00000268122:R83H	.	R	-	2	0	RHCG	87831157	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.780000	0.85658	2.250000	0.74265	0.550000	0.68814	CGC		0.627	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		12	13	0	0	0	1	0	12	13					T	90030153	C	T	90030153	3	4	435	1	0	0	0	0	1	0	0	0	13326	768	27	1	1227	1	RHCG	15	90030153	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10158	90030153	12501239	6664	27589											
C15orf42	90381	broad.mit.edu	37	chr15	90137697	90137697	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcttccaaaactgaaggCgaattaatacattgccttgc	13	11	8	9	1	1	1	0	1	1	0	2	3	2	1	2	1	4	0	2	1	6	5	rs369430806		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:90137697C>T	ENST00000268138.7	+	6	1698	c.1593C>T	c.(1591-1593)ggC>ggT	p.G531G	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Silent_p.G530G			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	531					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										AAACTGAAGGCGAATTAATAC	0.393													C|||	1	0.000199681	0	0	5008	,	,		14228	0		0	False		,,,				2504	0.001					ENST00000268138.7																			0											c.(1591-1593)ggC>ggT		TOPBP1-interacting checkpoint and replication regulator							81	74	76					15																	90137697		1856	4091	5947	SO:0001819	synonymous_variant	90381							g.chr15:90137697C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1593C>T	15.37:g.90137697C>T						TICRR_ENST00000560985.1_Silent_p.G530G	p.G531G							6	1698	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	c.1593C>T	CCDS10352.2																																																																																				0.393	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		25	23	0	0	0	1	0	25	23					T	90137697	C	T	90137697	2	4	435	1	0	0	0	0	0	0	0	1	1796	755	27	1		1	C15orf42	15	90137697	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	107544	90137697	12393695	6665	27590											
C15orf42	90381	broad.mit.edu	37	chr15	90145182	90145182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgatgaactgcaggaacttCgtaccagatcagccaagaag	14	7	10	10	1	1	4	1	2	0	2	2	5	1	5	2	1	5	2	2	1	5	2	rs201733600		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:90145182C>T	ENST00000268138.7	+	12	2647	c.2542C>T	c.(2542-2544)Cgt>Tgt	p.R848C	TICRR_ENST00000560985.1_Missense_Mutation_p.R847C			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	848					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GCAGGAACTTCGTACCAGATC	0.408													C|||	1	0.000199681	0	0	5008	,	,		20977	0.001		0	False		,,,				2504	0					ENST00000268138.7																			0											c.(2542-2544)Cgt>Tgt		TOPBP1-interacting checkpoint and replication regulator							90	81	84					15																	90145182		1896	4125	6021	SO:0001583	missense	90381							g.chr15:90145182C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.2542C>T	15.37:g.90145182C>T	ENSP00000268138:p.Arg848Cys					TICRR_ENST00000560985.1_Missense_Mutation_p.R847C	p.R848C							12	2647	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.2542C>T	CCDS10352.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.45	3.829474	0.71258	.	.	ENSG00000140534	ENST00000268138	T	0.17691	2.26	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.45377	0.1339	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.25641	-1.0126	10	0.72032	D	0.01	-18.8599	20.3242	0.98691	0.0:1.0:0.0:0.0	.	848	Q7Z2Z1	TICRR_HUMAN	C	848	ENSP00000268138:R848C	ENSP00000268138:R848C	R	+	1	0	C15orf42	87946186	1.000000	0.71417	0.928000	0.36995	0.549000	0.35272	4.101000	0.57769	2.882000	0.98803	0.655000	0.94253	CGT		0.408	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		22	37	0	0	0	1	0	22	37					T	90145182	C	T	90145182	3	4	435	1	0	0	0	0	1	0	0	0	1796	884	31	2	2588	2	C15orf42	15	90145182	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7485	90145182	12386210	6666	27591											
KIF7	374654	broad.mit.edu	37	chr15	90177027	90177027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgccgcatgagctgcaCgttccgctcgagctcctgca	5	9	11	16	4	0	1	0	1	0	0	3	2	2	1	3	0	6	8	3	0	0	1	rs143915145	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:90177027C>T	ENST00000394412.3	-	12	2558	c.2482G>A	c.(2482-2484)Gtg>Atg	p.V828M		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	828					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)			ATGAGCTGCACGTTCCGCTCG	0.647																																						ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(2482-2484)Gtg>Atg		kinesin family member 7		C	MET/VAL	0,4400		0,0,2200	48	45	46		2482	5.1	1	15	dbSNP_134	46	3,8595	3.0+/-9.4	0,3,4296	no	missense	KIF7	NM_198525.2	21	0,3,6496	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	828/1344	90177027	3,12995	2200	4299	6499	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90177027C>T	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2482G>A	15.37:g.90177027C>T	ENSP00000377934:p.Val828Met						p.V828M	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		12	2558	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		828					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.2482G>A	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044856	0.75732	0.0	3.49E-4	ENSG00000166813	ENST00000394412	T	0.44482	0.92	5.12	5.12	0.69794	.	0.118924	0.56097	D	0.000026	T	0.59211	0.2177	M	0.72894	2.215	0.50632	D	0.999885	D;D	0.89917	1.0;0.999	D;P	0.70487	0.969;0.721	T	0.61739	-0.7001	10	0.59425	D	0.04	.	9.0903	0.36607	0.0:0.8277:0.0:0.1723	.	314;828	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	M	828	ENSP00000377934:V828M	ENSP00000377934:V828M	V	-	1	0	KIF7	87978031	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	4.643000	0.61390	2.378000	0.81104	0.491000	0.48974	GTG		0.647	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		8	12	0	0	0	1	0	8	12					T	90177027	C	T	90177027	3	4	435	1	0	0	0	0	1	0	0	0	8309	536	19	1	1581	1	KIF7	15	90177027	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31845	90177027	12354365	6667	27592											
ANPEP	290	broad.mit.edu	37	chr15	90344395	90344395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgccatctctgatggatGtgatgggcacaatccacacg	9	10	11	11	1	2	2	0	2	2	0	4	3	3	3	2	2	1	1	2	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:90344395G>A	ENST00000300060.6	-	12	2079	c.1766C>T	c.(1765-1767)aCa>aTa	p.T589I	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	589	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TCTGATGGATGTGATGGGCAC	0.562																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(1765-1767)aCa>aTa		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						133	119	124					15																	90344395		2200	4299	6499	SO:0001583	missense	290				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	g.chr15:90344395G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1766C>T	15.37:g.90344395G>A	ENSP00000300060:p.Thr589Ile					ANPEP_ENST00000558177.1_5'UTR	p.T589I	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	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)		12	2079	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		589			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.1766C>T	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692563	0.30052	.	.	ENSG00000166825	ENST00000300060	T	0.36699	1.24	4.52	4.52	0.55395	.	1.110220	0.06537	N	0.742628	T	0.45856	0.1363	M	0.82716	2.605	0.20403	N	0.99991	P	0.44429	0.835	B	0.37198	0.243	T	0.52208	-0.8606	10	0.72032	D	0.01	.	13.4556	0.61197	0.0:0.0:1.0:0.0	.	589	P15144	AMPN_HUMAN	I	589	ENSP00000300060:T589I	ENSP00000300060:T589I	T	-	2	0	ANPEP	88145399	0.996000	0.38824	0.013000	0.15412	0.011000	0.07611	3.044000	0.49830	2.453000	0.82957	0.462000	0.41574	ACA		0.562	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			4	80	0	0	0	1	0	4	80					A	90344395	G	A	90344395	3	1	435	1	0	0	0	0	1	0	0	0	710	1377	48	3	1177	3	ANPEP	15	90344395	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	167368	90344395	12186997	6668	27593											
ANPEP	290	broad.mit.edu	37	chr15	90348601	90348601	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtccttggggtggataagCgtgatgttgaactcggcctt	7	12	15	7	2	0	2	0	2	0	0	2	3	1	3	2	5	2	1	2	5	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:90348601C>T	ENST00000300060.6	-	3	1021	c.708G>A	c.(706-708)acG>acA	p.T236T	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	236	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GGTGGATAAGCGTGATGTTGA	0.642																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(706-708)acG>acA		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						153	141	145					15																	90348601		2200	4299	6499	SO:0001819	synonymous_variant	290				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	g.chr15:90348601C>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.708G>A	15.37:g.90348601C>T							p.T236T	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	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)		3	1021	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		236			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.708G>A	CCDS10356.1																																																																																				0.642	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			13	25	0	0	0	1	0	13	25					T	90348601	C	T	90348601	2	4	435	1	0	0	0	0	0	0	0	1	710	755	27	1		1	ANPEP	15	90348601	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4206	90348601	12182791	6669	27594											
C15orf38	348110	broad.mit.edu	37	chr15	90451581	90451581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgggctcgatttcatttcCcttggcgtcgaatttacggc	5	15	11	10	4	1	0	1	0	0	0	4	2	2	0	1	3	1	2	1	3	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:90451581C>T	ENST00000357484.5	-	3	352	c.232G>A	c.(232-234)Gga>Aga	p.G78R	C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.G78R|C15orf38_ENST00000460685.1_5'UTR	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1	Q7Z6K5	ARPIN_HUMAN		78					directional locomotion (GO:0033058)|negative regulation of actin nucleation (GO:0051126)|negative regulation of cell migration (GO:0030336)|negative regulation of lamellipodium morphogenesis (GO:2000393)	lamellipodium (GO:0030027)				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			ATTTCATTTCCCTTGGCGTCG	0.587																																						ENST00000357484.5																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(232-234)Gga>Aga		chromosome 15 open reading frame 38							115	124	121					15																	90451581		2107	4218	6325	SO:0001583	missense	348110							g.chr15:90451581C>T																												ENST00000357484.5:c.232G>A	15.37:g.90451581C>T	ENSP00000350075:p.Gly78Arg					C15orf38_ENST00000460685.1_5'UTR|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.G78R	p.G78R	NM_182616.2	NP_872422.1			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)		3	352	-	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)							E2QRD5	Missense_Mutation	SNP	ENST00000357484.5	37	c.232G>A	CCDS42080.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262517	0.59431	.	.	ENSG00000250021;ENSG00000242498	ENST00000398333;ENST00000357484	T	0.68181	-0.31	5.44	4.52	0.55395	.	0.069935	0.56097	U	0.000031	T	0.63010	0.2475	L	0.42245	1.32	0.80722	D	1	P;B	0.43750	0.816;0.422	P;B	0.45343	0.477;0.231	T	0.66300	-0.5958	10	0.56958	D	0.05	-6.9451	12.3417	0.55097	0.0:0.9154:0.0:0.0846	.	78;78	Q7Z6K5;E2QRD5	CO038_HUMAN;.	R	78	ENSP00000381377:G78R	ENSP00000381377:G78R	G	-	1	0	C15orf38-AP3S2;C15orf38	88252585	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	4.489000	0.60309	2.542000	0.85734	0.551000	0.68910	GGA		0.587	C15orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335629.1			13	19	0	0	0	1	0	13	19					T	90451581	C	T	90451581	3	4	435	1	0	0	0	0	1	0	0	0	1792	632	22	3	464	3	C15orf38	15	90451581	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	102980	90451581	12079811	6670	27595											
TTLL13	440307	broad.mit.edu	37	chr15	90802028	90802028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccttgatcaagaagtaaaGgatgcacttctctgtgatgc	11	12	10	8	0	2	3	1	2	1	1	3	4	2	4	1	1	3	2	1	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:90802028G>T	ENST00000339615.5	+	10	1511	c.1221G>T	c.(1219-1221)aaG>aaT	p.K407N	RP11-697E2.6_ENST00000561573.1_3'UTR|TTLL13_ENST00000438251.1_Missense_Mutation_p.K407N	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			AAGAAGTAAAGGATGCACTTC	0.512																																						ENST00000438251.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16						c.(1219-1221)aaG>aaT		tubulin tyrosine ligase-like family, member 13							155	121	132					15																	90802028		2199	4298	6497	SO:0001583	missense	440307				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr15:90802028G>T	BC036668		15q26.1	2013-02-14				ENSG00000213471		"Tubulin tyrosine ligase-like family"	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.1221G>T	15.37:g.90802028G>T	ENSP00000345294:p.Lys407Asn					RP11-697E2.6_ENST00000561573.1_3'UTR|TTLL13_ENST00000339615.5_Missense_Mutation_p.K407N	p.K407N			A6NNM8	TTL13_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		10	1511	+	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		407			TTL.			Missense_Mutation	SNP	ENST00000339615.5	37	c.1221G>T	CCDS32328.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093616	0.76756	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	T;T	0.07114	3.22;3.22	5.7	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.42988	0.1227	H	0.98407	4.225	0.45930	D	0.998761	D	0.89917	1.0	D	0.97110	1.0	T	0.57791	-0.7750	10	0.87932	D	0	.	9.2886	0.37773	0.1636:0.0:0.8364:0.0	.	407	A6NNM8-2	.	N	407	ENSP00000413362:K407N;ENSP00000345294:K407N	ENSP00000345294:K407N	K	+	3	2	TTLL13	88603032	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.728000	0.54991	1.398000	0.46701	0.655000	0.94253	AAG		0.512	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435854.1	NM_001029964		31	71	1	0	9.65021e-13	1	1.04556e-12	31	71					T	90802028	G	T	90802028	3	4	435	1	0	0	0	0	1	0	0	0	16723	991	35	5	1255	5	TTLL13	15	90802028	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	350447	90802028	11729364	6671	27596											
IQGAP1	8826	broad.mit.edu	37	chr15	91009601	91009601	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgttggcttgtatggagtCatccctgagtgtggtgaaac	8	13	14	6	0	1	2	1	2	0	0	2	4	2	3	1	3	1	3	1	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:91009601C>T	ENST00000268182.5	+	17	2092	c.1968C>T	c.(1966-1968)gtC>gtT	p.V656V	IQGAP1_ENST00000560738.1_Silent_p.V84V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	656					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGTATGGAGTCATCCCTGAGT	0.458																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1966-1968)gtC>gtT		IQ motif containing GTPase activating protein 1							134	107	116					15																	91009601		2198	4298	6496	SO:0001819	synonymous_variant	8826				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	g.chr15:91009601C>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1968C>T	15.37:g.91009601C>T						IQGAP1_ENST00000560738.1_Silent_p.V84V	p.V656V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		17	2092	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		656					A7MBM3	Silent	SNP	ENST00000268182.5	37	c.1968C>T	CCDS10362.1																																																																																				0.458	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		29	27	0	0	0	1	0	29	27					T	91009601	C	T	91009601	2	4	435	1	0	0	0	0	0	0	0	1	7814	813	29	3		3	IQGAP1	15	91009601	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	207573	91009601	11521791	6672	27597											
IQGAP1	8826	broad.mit.edu	37	chr15	91025225	91025225	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtgacccctgagcaggcGctagctcatgaagaagtgaa	12	7	13	9	1	1	5	1	4	0	1	1	6	1	5	2	1	2	3	2	1	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:91025225G>A	ENST00000268182.5	+	27	3487	c.3363G>A	c.(3361-3363)gcG>gcA	p.A1121A	IQGAP1_ENST00000560738.1_Silent_p.A549A	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1121	C1.|Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTGAGCAGGCGCTAGCTCATG	0.502											OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3361-3363)gcG>gcA		IQ motif containing GTPase activating protein 1							62	60	61					15																	91025225		2198	4298	6496	SO:0001819	synonymous_variant	8826				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	g.chr15:91025225G>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3363G>A	15.37:g.91025225G>A			OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1279	IQGAP1_ENST00000560738.1_Silent_p.A549A	p.A1121A	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		27	3487	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1121			C1.|Ras-GAP.		A7MBM3	Silent	SNP	ENST00000268182.5	37	c.3363G>A	CCDS10362.1																																																																																				0.502	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		19	37	0	0	0	1	0	19	37					A	91025225	G	A	91025225	2	1	435	1	0	0	0	0	0	0	0	1	7814	1074	38	1		1	IQGAP1	15	91025225	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15624	91025225	11506167	6673	27598											
FURIN	5045	broad.mit.edu	37	chr15	91424578	91424578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactgccctccagggttcGccccccaagtcctcgatacg	7	7	9	18	3	0	0	0	0	0	0	4	1	2	0	6	1	3	2	6	1	2	2	rs201334295		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:91424578G>A	ENST00000268171.3	+	16	2134	c.1855G>A	c.(1855-1857)Gcc>Acc	p.A619T		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	619					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q621fs*8(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TCCAGGGTTCGCCCCCCAAGT	0.632													G|||	1	0.000199681	0	0	5008	,	,		18680	0		0	False		,,,				2504	0.001					ENST00000268171.3																			1	Insertion - Frameshift(1)	p.Q621fs*8(1)	large_intestine(1)	breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36						c.(1855-1857)Gcc>Acc		furin (paired basic amino acid cleaving enzyme)							66	62	63					15																	91424578		2198	4296	6494	SO:0001583	missense	5045				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	g.chr15:91424578G>A	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1855G>A	15.37:g.91424578G>A	ENSP00000268171:p.Ala619Thr						p.A619T	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	Lung(145;0.189)		16	2134	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		619			Cys-rich.		Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	ENST00000268171.3	37	c.1855G>A	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	G	4.745	0.138600	0.09083	.	.	ENSG00000140564	ENST00000268171	T	0.28895	1.59	5.02	-1.5	0.08691	Growth factor, receptor (1);	0.652897	0.16097	N	0.229771	T	0.16300	0.0392	N	0.16266	0.395	0.19575	N	0.999965	B	0.06786	0.001	B	0.04013	0.001	T	0.21861	-1.0233	10	0.22109	T	0.4	-0.1593	11.8217	0.52242	0.4746:0.0:0.5254:0.0	.	619	P09958	FURIN_HUMAN	T	619	ENSP00000268171:A619T	ENSP00000268171:A619T	A	+	1	0	FURIN	89225582	0.014000	0.17966	0.004000	0.12327	0.017000	0.09413	0.545000	0.23268	-0.579000	0.05952	-0.266000	0.10368	GCC		0.632	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		17	25	0	0	0	1	0	17	25					A	91424578	G	A	91424578	3	1	435	1	0	0	0	0	1	0	0	0	6099	1087	38	1	1913	1	FURIN	15	91424578	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	399353	91424578	11106814	6674	27599											
MAN2A2	4122	broad.mit.edu	37	chr15	91455466	91455466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgacttcgccctcagcaaccGctacatgcaggtctggttct	7	10	9	15	3	3	0	1	0	2	0	4	1	3	0	2	2	4	4	2	2	2	3	rs200668237		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:91455466G>A	ENST00000559717.1	+	15	2762	c.2303G>A	c.(2302-2304)cGc>cAc	p.R768H	MAN2A2_ENST00000430376.2_5'UTR|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R276H|MAN2A2_ENST00000360468.3_Missense_Mutation_p.R768H			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	768					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			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)			CTCAGCAACCGCTACATGCAG	0.627																																						ENST00000360468.3																			0				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						c.(2302-2304)cGc>cAc		mannosidase, alpha, class 2A, member 2		G	HIS/ARG	0,4396		0,0,2198	94	94	94		2303	4.4	1	15		94	1,8595	1.2+/-3.3	0,1,4297	yes	missense	MAN2A2	NM_006122.2	29	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign	768/1151	91455466	1,12991	2198	4298	6496	SO:0001583	missense	4122				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	g.chr15:91455466G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2303G>A	15.37:g.91455466G>A	ENSP00000452948:p.Arg768His					MAN2A2_ENST00000559717.1_Missense_Mutation_p.R768H|MAN2A2_ENST00000430376.2_5'UTR|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R276H	p.R768H	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		14	2321	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		768					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.2303G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635054	0.47049	0.0	1.16E-4	ENSG00000196547	ENST00000360468;ENST00000431652	D;D	0.83250	-1.7;-1.7	5.32	4.4	0.53042	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.289846	0.41001	N	0.000975	T	0.78780	0.4337	M	0.68317	2.08	0.80722	D	1	B;B;B	0.14438	0.004;0.01;0.002	B;B;B	0.15484	0.009;0.013;0.005	T	0.74047	-0.3790	10	0.44086	T	0.13	-18.3369	7.061	0.25125	0.2413:0.0:0.7587:0.0	.	276;396;768	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	H	768;276	ENSP00000353655:R768H;ENSP00000388221:R276H	ENSP00000353655:R768H	R	+	2	0	MAN2A2	89256470	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.138000	0.42140	1.249000	0.43950	0.555000	0.69702	CGC		0.627	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		31	42	0	0	0	1	0	31	42					A	91455466	G	A	91455466	3	1	435	1	0	0	0	0	1	0	0	0	9215	1087	38	1	2357	1	MAN2A2	15	91455466	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	30888	91455466	11075926	6675	27600											
UNC45A	55898	broad.mit.edu	37	chr15	91488122	91488122	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taagcggggtgtctttacagGtctgaaaaagattttggaag	12	12	13	4	1	2	2	0	1	2	1	2	3	2	3	0	4	2	0	0	4	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:91488122G>A	ENST00000418476.2	+	9	1068	c.1028G>A	c.(1027-1029)gGt>gAt	p.G343D	UNC45A_ENST00000394275.2_Splice_Site_p.G328D	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	343					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GTCTTTACAGGTCTGAAAAAG	0.507																																						ENST00000394275.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e12-1		unc-45 homolog A (C. elegans)							63	72	69					15																	91488122		2198	4298	6496	SO:0001630	splice_region_variant	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91488122G>A		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"smooth muscle cell associated protein-1"	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.1028-1G>A	15.37:g.91488122G>A						UNC45A_ENST00000418476.2_Splice_Site_p.G343_splice	p.G328_splice	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		12	1818	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		343					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Splice_Site	SNP	ENST00000418476.2	37	c.982_splice	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031445	0.93575	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.33654	1.41;1.4	5.81	5.81	0.92471	Armadillo-like helical (1);	0.099482	0.64402	D	0.000001	T	0.64505	0.2604	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64118	-0.6482	9	.	.	.	.	18.9095	0.92477	0.0:0.0:1.0:0.0	.	343;328	Q9H3U1;A8K6F7	UN45A_HUMAN;.	D	328;343	ENSP00000377816:G328D;ENSP00000407487:G343D	.	G	+	2	0	UNC45A	89289126	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	9.776000	0.99001	2.763000	0.94921	0.650000	0.86243	GGT		0.507	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671	Missense_Mutation	12	21	0	0	0	1	0	12	21					A	91488122	G	A	91488122	5	1	435	1	0	0	0	0	0	0	1	0	16985	1275	44	3	1062	3	UNC45A	15	91488122	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32656	91488122	11043270	6676	27601											
VPS33B	26276	broad.mit.edu	37	chr15	91557641	91557641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatcgcatattcttgatgcGgggtctgaccaagaagcaca	11	10	11	9	2	2	3	0	2	2	1	3	3	2	3	1	2	2	3	1	2	4	4	rs566391215		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:91557641G>A	ENST00000333371.3	-	4	615	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	VPS33B_ENST00000535843.1_5'UTR|VPS33B_ENST00000535906.1_Missense_Mutation_p.R61C|VPS33B_ENST00000557358.1_5'UTR	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	88					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					TTCTTGATGCGGGGTCTGACC	0.418																																						ENST00000333371.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16						c.(262-264)Cgc>Tgc		vacuolar protein sorting 33 homolog B (yeast)							199	191	193					15																	91557641		2198	4298	6496	SO:0001583	missense	26276				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	g.chr15:91557641G>A	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"vacuolar protein sorting 33B (yeast homolog)"			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.262C>T	15.37:g.91557641G>A	ENSP00000327650:p.Arg88Cys					VPS33B_ENST00000535843.1_5'UTR|VPS33B_ENST00000557358.1_5'UTR|VPS33B_ENST00000535906.1_Missense_Mutation_p.R61C	p.R88C	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			4	615	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		88					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	ENST00000333371.3	37	c.262C>T	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272922	0.80580	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000537510	T;T	0.77229	-1.08;-1.08	5.11	5.11	0.69529	.	0.050277	0.85682	D	0.000000	T	0.81936	0.4928	L	0.35593	1.075	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.65874	0.899;0.939	T	0.82934	-0.0211	10	0.54805	T	0.06	0.9355	17.2554	0.87055	0.0:0.0:1.0:0.0	.	61;88	F5H008;Q9H267	.;VP33B_HUMAN	C	88;61;43	ENSP00000327650:R88C;ENSP00000444053:R61C	ENSP00000327650:R88C	R	-	1	0	VPS33B	89358645	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.272000	0.58908	2.651000	0.90000	0.655000	0.94253	CGC		0.418	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		68	115	0	0	0	1	0	68	115					A	91557641	G	A	91557641	3	1	435	1	0	0	0	0	1	0	0	0	17199	1116	39	2	1671	2	VPS33B	15	91557641	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	69519	91557641	10973751	6677	27602											
SLCO3A1	28232	broad.mit.edu	37	chr15	92459273	92459273	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaacctgcagagcgctgaCgtgggtgtgatcgctagcag	8	9	14	10	3	1	3	1	2	0	1	2	3	1	3	1	1	4	4	1	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:92459273C>T	ENST00000318445.6	+	2	445	c.231C>T	c.(229-231)gaC>gaT	p.D77D	SLCO3A1_ENST00000424469.2_Silent_p.D77D	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	77					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	AGAGCGCTGACGTGGGTGTGA	0.627																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(229-231)gaC>gaT		solute carrier organic anion transporter family, member 3A1							94	82	86					15																	92459273		2198	4298	6496	SO:0001819	synonymous_variant	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92459273C>T	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.231C>T	15.37:g.92459273C>T						SLCO3A1_ENST00000424469.2_Silent_p.D77D	p.D77D	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		2	445	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		77					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	37	c.231C>T	CCDS10371.1																																																																																				0.627	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		27	52	0	0	0	1	0	27	52					T	92459273	C	T	92459273	2	4	435	1	0	0	0	0	0	0	0	1	14728	535	19	1		1	SLCO3A1	15	92459273	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	901632	92459273	10072119	6678	27603											
SLCO3A1	28232	broad.mit.edu	37	chr15	92663751	92663751	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttcacctgcatcatcCtggccgcctgcatggagatt	6	12	10	13	1	2	1	2	0	0	1	3	2	3	1	4	2	2	3	4	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:92663751C>A	ENST00000318445.6	+	5	1280	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.L356M	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	356					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CTGCATCATCCTGGCCGCCTG	0.567																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1066-1068)Ctg>Atg		solute carrier organic anion transporter family, member 3A1							227	190	203					15																	92663751		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92663751C>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1066C>A	15.37:g.92663751C>A	ENSP00000320634:p.Leu356Met					SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.L356M	p.L356M	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		5	1280	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		356					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.1066C>A	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439786	0.83885	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	D;D	0.84070	-1.8;-1.8	5.2	5.2	0.72013	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000001	D	0.90164	0.6926	M	0.62154	1.92	0.80722	D	1	D;D;D	0.89917	0.99;1.0;1.0	P;D;D	0.97110	0.741;0.999;1.0	D	0.90623	0.4561	10	0.59425	D	0.04	.	18.7362	0.91756	0.0:1.0:0.0:0.0	.	298;356;356	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	M	356;356;75	ENSP00000320634:L356M;ENSP00000387846:L356M	ENSP00000320634:L356M	L	+	1	2	SLCO3A1	90464755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.335000	0.65929	2.418000	0.82041	0.650000	0.86243	CTG		0.567	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		97	118	1	0	3.45148e-53	1	3.88244e-53	97	118					A	92663751	C	A	92663751	3	1	435	1	0	0	0	0	1	0	0	0	14728	680	24	5	1084	5	SLCO3A1	15	92663751	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	204478	92663751	9867641	6679	27604											
SLCO3A1	28232	broad.mit.edu	37	chr15	92671655	92671655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaaaccgattccttcaCtccagtgtgtggggcagatg	9	10	11	11	1	1	1	1	0	0	1	3	2	3	1	4	2	2	1	4	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:92671655C>T	ENST00000318445.6	+	7	1662	c.1448C>T	c.(1447-1449)aCt>aTt	p.T483I	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.T483I	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	483	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GATTCCTTCACTCCAGTGTGT	0.567																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1447-1449)aCt>aTt		solute carrier organic anion transporter family, member 3A1							185	145	158					15																	92671655		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92671655C>T	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1448C>T	15.37:g.92671655C>T	ENSP00000320634:p.Thr483Ile					SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.T483I	p.T483I	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		7	1662	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		483			Kazal-like.		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.1448C>T	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444151	0.43429	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.04275	3.66;3.66	5.46	5.46	0.80206	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Protease inhibitor, Kazal-type (1);	0.041017	0.85682	D	0.000000	T	0.08980	0.0222	N	0.25332	0.735	0.58432	D	0.999998	P;D;B	0.53151	0.744;0.958;0.03	B;P;B	0.51229	0.154;0.663;0.063	T	0.16748	-1.0392	10	0.48119	T	0.1	.	19.3038	0.94153	0.0:1.0:0.0:0.0	.	425;483;483	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	I	483;483;202	ENSP00000320634:T483I;ENSP00000387846:T483I	ENSP00000320634:T483I	T	+	2	0	SLCO3A1	90472659	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.694000	0.68272	2.569000	0.86673	0.655000	0.94253	ACT		0.567	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		30	52	0	0	0	1	0	30	52					T	92671655	C	T	92671655	3	4	435	1	0	0	0	0	1	0	0	0	14728	565	20	3	1474	3	SLCO3A1	15	92671655	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7904	92671655	9859737	6680	27605											
CHD2	1106	broad.mit.edu	37	chr15	93489284	93489284	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagctcatagtcggaagccGgcaccctcaaatgagcccga	12	6	10	13	3	2	1	2	1	0	0	3	3	2	2	3	2	3	2	3	2	4	2	rs144294063		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:93489284G>A	ENST00000394196.4	+	12	2283	c.1215G>A	c.(1213-1215)ccG>ccA	p.P405P	CHD2_ENST00000420239.2_Silent_p.P405P|CHD2_ENST00000536619.1_Silent_p.P418P|CHD2_ENST00000557381.1_Silent_p.P405P	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	405	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			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)			GTCGGAAGCCGGCACCCTCAA	0.363													G|||	1	0.000199681	0	0	5008	,	,		17294	0.001		0	False		,,,				2504	0					ENST00000394196.4																			0				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						c.(1213-1215)ccG>ccA		chromodomain helicase DNA binding protein 2		G	,	0,4394		0,0,2197	58	61	60		1215,1215	-2	1	15	dbSNP_134	60	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	CHD2	NM_001042572.2,NM_001271.3	,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	,	405/502,405/1829	93489284	1,12989	2197	4298	6495	SO:0001819	synonymous_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93489284G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1215G>A	15.37:g.93489284G>A						CHD2_ENST00000557381.1_Silent_p.P405P|CHD2_ENST00000536619.1_Silent_p.P418P|CHD2_ENST00000420239.2_Silent_p.P405P	p.P405P	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		12	2283	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		405			Chromo 2.		C6G482|Q96IP5	Silent	SNP	ENST00000394196.4	37	c.1215G>A	CCDS10374.2																																																																																				0.363	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		35	47	0	0	0	1	0	35	47					A	93489284	G	A	93489284	2	1	435	1	0	0	0	0	0	0	0	1	3325	1103	39	2		2	CHD2	15	93489284	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	817629	93489284	9042108	6681	27606											
CHD2	1106	broad.mit.edu	37	chr15	93552392	93552392	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtgtaaggagaggatgagGcccgtgaaaaaggcactgaa	15	5	15	6	1	0	4	0	3	0	1	0	6	0	5	1	4	0	2	1	4	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:93552392G>A	ENST00000394196.4	+	35	5499	c.4431G>A	c.(4429-4431)agG>agA	p.R1477R	CHD2_ENST00000557381.1_Silent_p.R1477R	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1477					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			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)			AGAGGATGAGGCCCGTGAAAA	0.478																																						ENST00000394196.4																			0				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						c.(4429-4431)agG>agA		chromodomain helicase DNA binding protein 2							106	86	92					15																	93552392		2197	4298	6495	SO:0001819	synonymous_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93552392G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4431G>A	15.37:g.93552392G>A						CHD2_ENST00000557381.1_Silent_p.R1477R	p.R1477R	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		35	5499	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1477					C6G482|Q96IP5	Silent	SNP	ENST00000394196.4	37	c.4431G>A	CCDS10374.2																																																																																				0.478	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		4	9	0	0	0	1	0	4	9					A	93552392	G	A	93552392	2	1	435	1	0	0	0	0	0	0	0	1	3325	1194	42	3		3	CHD2	15	93552392	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	63108	93552392	8979000	6682	27607											
CHD2	1106	broad.mit.edu	37	chr15	93567736	93567736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaccctcagaccattaccGctctttccacacagataaac	12	8	6	15	1	2	2	1	0	1	2	3	3	3	3	4	1	2	1	4	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:93567736G>A	ENST00000394196.4	+	39	6356	c.5288G>A	c.(5287-5289)cGc>cAc	p.R1763H		NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1763					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			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)			GACCATTACCGCTCTTTCCAC	0.527																																						ENST00000394196.4																			0				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						c.(5287-5289)cGc>cAc		chromodomain helicase DNA binding protein 2							86	91	90					15																	93567736		1916	4130	6046	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93567736G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.5288G>A	15.37:g.93567736G>A	ENSP00000377747:p.Arg1763His						p.R1763H	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		39	6356	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1763					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.5288G>A	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304124	0.81136	.	.	ENSG00000173575	ENST00000394196	D	0.90732	-2.72	5.74	5.74	0.90152	.	.	.	.	.	D	0.91126	0.7206	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.89686	0.3894	9	0.28530	T	0.3	-9.9313	20.2982	0.98569	0.0:0.0:1.0:0.0	.	1763	O14647	CHD2_HUMAN	H	1763	ENSP00000377747:R1763H	ENSP00000377747:R1763H	R	+	2	0	CHD2	91368740	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.881000	0.92415	2.873000	0.98535	0.563000	0.77884	CGC		0.527	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		12	36	0	0	0	1	0	12	36					A	93567736	G	A	93567736	3	1	435	1	0	0	0	0	1	0	0	0	3325	1087	38	1	5442	1	CHD2	15	93567736	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15344	93567736	8963656	6683	27608											
ARRDC4	91947	broad.mit.edu	37	chr15	98511267	98511267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtattgaaaactcaagaGaaaatggttggctgttggtt	12	13	11	5	0	1	2	1	1	0	1	1	3	1	2	1	3	1	5	1	3	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:98511267G>T	ENST00000268042.6	+	4	710	c.546G>T	c.(544-546)gaG>gaT	p.E182D	ARRDC4_ENST00000538249.1_Missense_Mutation_p.E95D	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	182					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			AAACTCAAGAGAAAATGGTTG	0.348																																						ENST00000268042.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16						c.(544-546)gaG>gaT		arrestin domain containing 4							96	106	103					15																	98511267		2197	4298	6495	SO:0001583	missense	91947				signal transduction			g.chr15:98511267G>T	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.546G>T	15.37:g.98511267G>T	ENSP00000268042:p.Glu182Asp					ARRDC4_ENST00000538249.1_Missense_Mutation_p.E95D	p.E182D	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		4	710	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		182					Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	c.546G>T	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	g	17.64	3.439166	0.63067	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.06933	3.24;3.24	5.68	1.78	0.24846	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	T	0.07548	0.0190	L	0.52905	1.665	0.49299	D	0.999776	P;B	0.37636	0.603;0.38	B;B	0.30316	0.089;0.114	T	0.22906	-1.0203	10	0.51188	T	0.08	-1.7953	9.0412	0.36319	0.4162:0.0:0.5838:0.0	.	182;95	Q8NCT1;F5H824	ARRD4_HUMAN;.	D	95;182	ENSP00000443774:E95D;ENSP00000268042:E182D	ENSP00000268042:E182D	E	+	3	2	ARRDC4	96312271	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.771000	0.26633	0.085000	0.17107	-0.127000	0.14921	GAG		0.348	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		21	29	1	0	1.55795e-14	1	1.69983e-14	21	29					T	98511267	G	T	98511267	3	4	435	1	0	0	0	0	1	0	0	0	985	933	33	5	560	5	ARRDC4	15	98511267	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4943531	98511267	4020125	6684	27609											
ARRDC4	91947	broad.mit.edu	37	chr15	98512457	98512457	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catatttggctagtggaaaaAcaaagaccattcgacacatg	16	9	8	8	1	0	1	0	0	0	1	1	3	0	2	1	2	1	1	1	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:98512457A>G	ENST00000268042.6	+	5	894	c.730A>G	c.(730-732)Aca>Gca	p.T244A	ARRDC4_ENST00000538249.1_Missense_Mutation_p.T157A	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	244					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TAGTGGAAAAACAAAGACCAT	0.438																																						ENST00000268042.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16						c.(730-732)Aca>Gca		arrestin domain containing 4							92	83	86					15																	98512457		2197	4298	6495	SO:0001583	missense	91947				signal transduction			g.chr15:98512457A>G	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.730A>G	15.37:g.98512457A>G	ENSP00000268042:p.Thr244Ala					ARRDC4_ENST00000538249.1_Missense_Mutation_p.T157A	p.T244A	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		5	894	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		244					Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	c.730A>G	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	A	19.84	3.902166	0.72754	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.05996	3.36;3.36	5.11	5.11	0.69529	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.071898	0.56097	D	0.000022	T	0.12347	0.0300	M	0.67625	2.065	0.46631	D	0.999131	P;B	0.42456	0.78;0.252	B;B	0.43301	0.415;0.066	T	0.01587	-1.1318	10	0.48119	T	0.1	-5.4581	15.1847	0.72989	1.0:0.0:0.0:0.0	.	244;157	Q8NCT1;F5H824	ARRD4_HUMAN;.	A	157;244	ENSP00000443774:T157A;ENSP00000268042:T244A	ENSP00000268042:T244A	T	+	1	0	ARRDC4	96313461	1.000000	0.71417	0.061000	0.19648	0.926000	0.56050	7.256000	0.78350	2.052000	0.61016	0.482000	0.46254	ACA		0.438	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		21	31	0	0	0	1	0	21	31					G	98512457	A	G	98512457	3	3	435	1	0	0	0	0	1	0	0	0	985	43	2	4	748	4	ARRDC4	15	98512457	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1190	98512457	4018935	6685	27610											
ARRDC4	91947	broad.mit.edu	37	chr15	98513233	98513233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgccagccagttcagtatgGatatgagctggttgacactg	9	12	12	8	0	1	2	1	2	0	0	1	3	1	3	2	2	3	4	2	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:98513233G>A	ENST00000268042.6	+	6	1167	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	ARRDC4_ENST00000538249.1_Missense_Mutation_p.D248N	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	335					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			GTTCAGTATGGATATGAGCTG	0.428																																						ENST00000268042.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16						c.(1003-1005)Gat>Aat		arrestin domain containing 4							70	70	70					15																	98513233		2197	4298	6495	SO:0001583	missense	91947				signal transduction			g.chr15:98513233G>A	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.1003G>A	15.37:g.98513233G>A	ENSP00000268042:p.Asp335Asn					ARRDC4_ENST00000538249.1_Missense_Mutation_p.D248N	p.D335N	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		6	1167	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		335					Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	c.1003G>A	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846223	0.51164	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.06294	3.32;3.32	4.87	4.87	0.63330	Immunoglobulin E-set (1);	0.140106	0.48286	D	0.000181	T	0.14527	0.0351	L	0.37630	1.12	0.47511	D	0.999447	D;D	0.76494	0.999;0.999	D;D	0.69479	0.922;0.964	T	0.13926	-1.0491	10	0.08381	T	0.77	-19.4029	18.5731	0.91144	0.0:0.0:1.0:0.0	.	335;248	Q8NCT1;F5H824	ARRD4_HUMAN;.	N	248;335	ENSP00000443774:D248N;ENSP00000268042:D335N	ENSP00000268042:D335N	D	+	1	0	ARRDC4	96314237	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.979000	0.63806	2.683000	0.91414	0.650000	0.86243	GAT		0.428	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		17	31	0	0	0	1	0	17	31					A	98513233	G	A	98513233	3	1	435	1	0	0	0	0	1	0	0	0	985	1174	41	3	1025	3	ARRDC4	15	98513233	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	776	98513233	4018159	6686	27611											
FAM169B	283777	broad.mit.edu	37	chr15	98995239	98995239	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccatcaccacacagtctgCctgcagagaaagaaagagac	15	5	9	12	0	2	3	1	0	1	3	2	5	2	3	3	0	3	1	3	0	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:98995239C>T	ENST00000558256.1	-	5	434	c.185G>A	c.(184-186)gGc>gAc	p.G62D	FAM169B_ENST00000332908.4_Splice_Site_p.G62D	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	62										large_intestine(3)|lung(3)|urinary_tract(1)	7						ACACAGTCTGCCTGCAGAGAA	0.587																																						ENST00000558256.1																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.e5-1		family with sequence similarity 169, member B							67	72	71					15																	98995239		2083	4224	6307	SO:0001630	splice_region_variant	283777							g.chr15:98995239C>T		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.185-1G>A	15.37:g.98995239C>T						FAM169B_ENST00000332908.4_Splice_Site_p.G62_splice	p.G62_splice	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN			5	434	-			62					B5MDL8	Splice_Site	SNP	ENST00000558256.1	37	c.184_splice	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196786	0.58126	.	.	ENSG00000185087	ENST00000332908	T	0.75477	-0.94	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.84183	0.5416	L	0.61036	1.89	0.51233	D	0.999919	D	0.89917	1.0	D	0.97110	1.0	D	0.86184	0.1608	10	0.87932	D	0	.	16.0773	0.80976	0.0:1.0:0.0:0.0	.	62	Q8N8A8	F169B_HUMAN	D	62	ENSP00000332615:G62D	ENSP00000332615:G62D	G	-	2	0	FAM169B	96812762	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	6.401000	0.73256	2.366000	0.80165	0.650000	0.86243	GGC		0.587	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562	Missense_Mutation	8	12	0	0	0	1	0	8	12					T	98995239	C	T	98995239	5	4	435	1	0	0	0	0	0	0	1	0	5488	753	26	3	405	3	FAM169B	15	98995239	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	482006	98995239	3536153	6687	27612											
IGF1R	3480	broad.mit.edu	37	chr15	99467887	99467887	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgggtcgtggacagatcCtgtgttcttctatgtccagg	7	13	13	8	1	2	1	0	0	2	1	5	3	4	2	2	3	0	1	2	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:99467887C>A	ENST00000268035.6	+	13	3367	c.2756C>A	c.(2755-2757)cCt>cAt	p.P919H	IGF1R_ENST00000558762.1_Missense_Mutation_p.P919H	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	919	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			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(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TGGACAGATCCTGTGTTCTTC	0.542																																						ENST00000268035.6																			0				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						c.(2755-2757)cCt>cAt		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						118	99	106					15																	99467887		2197	4297	6494	SO:0001583	missense	3480				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	g.chr15:99467887C>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2756C>A	15.37:g.99467887C>A	ENSP00000268035:p.Pro919His					IGF1R_ENST00000558762.1_Missense_Mutation_p.P919H	p.P919H	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	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)		13	3367	+	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)		919			Fibronectin type-III 3.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.2756C>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263936	0.80358	.	.	ENSG00000140443	ENST00000268035	T	0.56776	0.44	5.66	5.66	0.87406	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000020	T	0.68997	0.3062	M	0.84156	2.68	0.80722	D	1	D;B	0.54397	0.966;0.004	P;B	0.52672	0.706;0.031	T	0.68112	-0.5495	10	0.30854	T	0.27	.	19.7439	0.96243	0.0:1.0:0.0:0.0	.	919;919	C9J5X1;P08069	.;IGF1R_HUMAN	H	919	ENSP00000268035:P919H	ENSP00000268035:P919H	P	+	2	0	IGF1R	97285410	0.999000	0.42202	0.984000	0.44739	0.987000	0.75469	4.812000	0.62613	2.669000	0.90835	0.655000	0.94253	CCT		0.542	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		25	31	1	0	5.45024e-15	1	5.96122e-15	25	31					A	99467887	C	A	99467887	3	1	435	1	0	0	0	0	1	0	0	0	7571	681	24	5	2806	5	IGF1R	15	99467887	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	472648	99467887	3063505	6688	27613											
TTC23	64927	broad.mit.edu	37	chr15	99715278	99715278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctcgtgtctccctgaaGcgacagcagcatgggcgacg	7	7	15	12	4	1	1	0	1	1	0	3	3	1	1	1	2	4	3	1	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:99715278G>A	ENST00000394132.2	-	10	1659	c.842C>T	c.(841-843)gCt>gTt	p.A281V	TTC23_ENST00000394130.1_Missense_Mutation_p.A281V|TTC23_ENST00000394129.2_Missense_Mutation_p.A281V|TTC23_ENST00000558613.1_Missense_Mutation_p.A281V|TTC23_ENST00000394135.3_Missense_Mutation_p.A281V|TTC23_ENST00000558663.1_Missense_Mutation_p.A281V|TTC23_ENST00000262074.4_Missense_Mutation_p.A281V|TTC23_ENST00000394136.1_Missense_Mutation_p.A281V			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	281										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TCTCCCTGAAGCGACAGCAGC	0.517																																						ENST00000394132.2																			0				endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16						c.(841-843)gCt>gTt		tetratricopeptide repeat domain 23							88	68	75					15																	99715278		2197	4297	6494	SO:0001583	missense	64927						binding	g.chr15:99715278G>A		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"Tetratricopeptide (TTC) repeat domain containing"	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.842C>T	15.37:g.99715278G>A	ENSP00000377690:p.Ala281Val					TTC23_ENST00000394130.1_Missense_Mutation_p.A281V|TTC23_ENST00000558663.1_Missense_Mutation_p.A281V|TTC23_ENST00000394129.2_Missense_Mutation_p.A281V|TTC23_ENST00000394136.1_Missense_Mutation_p.A281V|TTC23_ENST00000394135.3_Missense_Mutation_p.A281V|TTC23_ENST00000262074.4_Missense_Mutation_p.A281V|TTC23_ENST00000558613.1_Missense_Mutation_p.A281V	p.A281V			Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		10	1659	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		281					A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	ENST00000394132.2	37	c.842C>T	CCDS10379.2	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075920	0.36662	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000394130;ENST00000394129	T;T;T;T;T;T	0.78481	-0.09;-0.09;-0.09;-0.09;-0.09;-1.18	6.07	5.16	0.70880	Tetratricopeptide-like helical (1);	0.437153	0.23139	N	0.051489	T	0.74772	0.3760	M	0.69823	2.125	0.09310	N	0.999999	B;B	0.29508	0.033;0.246	B;B	0.29942	0.027;0.109	T	0.63862	-0.6541	10	0.26408	T	0.33	-0.0122	11.2011	0.48741	0.0834:0.0:0.9166:0.0	.	281;281	Q5W5X9-2;Q5W5X9	.;TTC23_HUMAN	V	281	ENSP00000377690:A281V;ENSP00000377693:A281V;ENSP00000262074:A281V;ENSP00000377692:A281V;ENSP00000377688:A281V;ENSP00000457901:A281V	ENSP00000262074:A281V	A	-	2	0	TTC23	97532801	0.064000	0.20934	0.115000	0.21578	0.190000	0.23558	2.434000	0.44802	1.584000	0.49913	0.655000	0.94253	GCT		0.517	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	NM_022905		11	18	0	0	0	1	0	11	18					A	99715278	G	A	99715278	3	1	435	1	0	0	0	0	1	0	0	0	16687	971	34	3	521	3	TTC23	15	99715278	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	247391	99715278	2816114	6689	27614											
LYSMD4	145748	broad.mit.edu	37	chr15	100269761	100269761	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgcccgcgcctgctctgTctgcctctggcagttccacg	2	10	12	17	4	3	0	0	0	3	0	4	0	4	0	4	2	3	3	4	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:100269761T>G	ENST00000409796.1	-	3	520	c.458A>C	c.(457-459)gAc>gCc	p.D153A	LYSMD4_ENST00000332728.4_Missense_Mutation_p.D153A|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000545021.1_Missense_Mutation_p.D27A|LYSMD4_ENST00000344791.2_Missense_Mutation_p.D154A	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	153						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			GCCTGCTCTGTCTGCCTCTGG	0.562																																						ENST00000545021.1																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10						c.(79-81)gAc>gCc		LysM, putative peptidoglycan-binding, domain containing 4							69	69	69					15																	100269761		2203	4300	6503	SO:0001583	missense	145748				cell wall macromolecule catabolic process	integral to membrane		g.chr15:100269761T>G	BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.458A>C	15.37:g.100269761T>G	ENSP00000386283:p.Asp153Ala					LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Missense_Mutation_p.D153A|LYSMD4_ENST00000344791.2_Missense_Mutation_p.D154A|LYSMD4_ENST00000409796.1_Missense_Mutation_p.D153A	p.D27A			Q5XG99	LYSM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)		4	894	-	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		153					A6NII6|A8K2N1|Q96LY7	Missense_Mutation	SNP	ENST00000409796.1	37	c.80A>C		.	.	.	.	.	.	.	.	.	.	T	4.108	0.018164	0.07959	.	.	ENSG00000183060	ENST00000409796;ENST00000344791;ENST00000332728;ENST00000545021	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	4.83	3.71	0.42584	.	0.363024	0.29964	N	0.010756	T	0.19604	0.0471	L	0.57536	1.79	0.09310	N	0.999998	P;P	0.51933	0.949;0.763	B;B	0.39805	0.31;0.242	T	0.10776	-1.0615	10	0.35671	T	0.21	-31.9851	10.4225	0.44359	0.0:0.0777:0.0:0.9223	.	154;153	Q5XG99-2;Q5XG99	.;LYSM4_HUMAN	A	153;154;153;27	ENSP00000386283:D153A;ENSP00000342840:D154A;ENSP00000333008:D153A;ENSP00000445357:D27A	ENSP00000333008:D153A	D	-	2	0	LYSMD4	98087284	0.009000	0.17119	0.004000	0.12327	0.024000	0.10985	1.076000	0.30729	0.798000	0.33994	0.533000	0.62120	GAC		0.562	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	NM_152449		49	52	0	0	0	1	0	49	52					G	100269761	T	G	100269761	3	3	435	1	0	0	0	0	1	0	0	0	9127	1667	58	5	436	5	LYSMD4	15	100269761	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	554483	100269761	2261631	6690	27615											
ADAMTS17	170691	broad.mit.edu	37	chr15	100537606	100537606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgtgaccactcagacGcctcccagatggacaggcag	10	5	10	16	1	1	3	1	1	0	2	2	4	2	4	5	2	0	1	5	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:100537606G>A	ENST00000268070.4	-	19	2885	c.2780C>T	c.(2779-2781)gCg>gTg	p.A927V		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	927	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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)		CCACTCAGACGCCTCCCAGAT	0.662																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2779-2781)gCg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 17							43	46	45					15																	100537606		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100537606G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2780C>T	15.37:g.100537606G>A	ENSP00000268070:p.Ala927Val						p.A927V	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	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)	19	2885	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		927			TSP type-1 4.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.2780C>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999887	0.93227	.	.	ENSG00000140470	ENST00000268070	T	0.52526	0.66	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000001	T	0.56645	0.1999	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.47598	-0.9105	10	0.07482	T	0.82	.	18.4035	0.90525	0.0:0.0:1.0:0.0	.	927	Q8TE56	ATS17_HUMAN	V	927	ENSP00000268070:A927V	ENSP00000268070:A927V	A	-	2	0	ADAMTS17	98355129	1.000000	0.71417	0.937000	0.37676	0.985000	0.73830	8.776000	0.91776	2.327000	0.79052	0.563000	0.77884	GCG		0.662	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		17	28	0	0	0	1	0	17	28					A	100537606	G	A	100537606	3	1	435	1	0	0	0	0	1	0	0	0	262	1087	38	1	523	1	ADAMTS17	15	100537606	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	267845	100537606	1993786	6691	27616											
ADAMTS17	170691	broad.mit.edu	37	chr15	100589123	100589123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctgggcggcttgcttgagGgcagtcactgtcgttcacca	5	11	13	12	2	3	1	2	1	1	0	4	1	3	1	1	3	1	4	1	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:100589123G>A	ENST00000268070.4	-	18	2635	c.2530C>T	c.(2530-2532)Cct>Tct	p.P844S		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	844	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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)		CTTGCTTGAGGGCAGTCACTG	0.577																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2530-2532)Cct>Tct		ADAM metallopeptidase with thrombospondin type 1 motif, 17							156	121	133					15																	100589123		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100589123G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2530C>T	15.37:g.100589123G>A	ENSP00000268070:p.Pro844Ser						p.P844S	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	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)	18	2635	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		844			TSP type-1 2.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.2530C>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484643	0.26598	.	.	ENSG00000140470	ENST00000268070	T	0.60920	0.15	4.59	3.68	0.42216	.	0.353536	0.25941	N	0.027301	T	0.35158	0.0922	N	0.04880	-0.145	0.36690	D	0.87951	B	0.06786	0.001	B	0.04013	0.001	T	0.25398	-1.0133	10	0.34782	T	0.22	.	12.6458	0.56733	0.0809:0.0:0.9191:0.0	.	844	Q8TE56	ATS17_HUMAN	S	844	ENSP00000268070:P844S	ENSP00000268070:P844S	P	-	1	0	ADAMTS17	98406646	1.000000	0.71417	0.775000	0.31657	0.976000	0.68499	4.915000	0.63355	1.047000	0.40274	0.655000	0.94253	CCT		0.577	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		16	47	0	0	0	1	0	16	47					A	100589123	G	A	100589123	3	1	435	1	0	0	0	0	1	0	0	0	262	1232	43	3	777	3	ADAMTS17	15	100589123	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	51517	100589123	1942269	6692	27617											
ADAMTS17	170691	broad.mit.edu	37	chr15	100802623	100802623	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaatccccaggctctggtgCtgaaacatattgtataccta	11	13	7	10	0	1	1	0	1	1	0	2	1	2	1	3	2	3	3	3	2	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:100802623C>T	ENST00000268070.4	-	5	912	c.807G>A	c.(805-807)caG>caA	p.Q269Q	ADAMTS17_ENST00000559976.1_5'Flank	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	269	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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)		GGCTCTGGTGCTGAAACATAT	0.383																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(805-807)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 17							109	108	108					15																	100802623		2203	4300	6503	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100802623C>T	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.807G>A	15.37:g.100802623C>T							p.Q269Q	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	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)	5	912	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		269			Peptidase M12B.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.807G>A	CCDS10383.1																																																																																				0.383	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		34	53	0	0	0	1	0	34	53					T	100802623	C	T	100802623	2	4	435	1	0	0	0	0	0	0	0	1	262	796	28	3		3	ADAMTS17	15	100802623	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	213500	100802623	1728769	6693	27618											
CHSY1	22856	broad.mit.edu	37	chr15	101718648	101718648	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctttttgtacagaagcaGcaggtccaggatgtactcag	10	11	12	8	0	1	1	1	0	0	1	2	2	2	2	1	2	5	5	1	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:101718648G>A	ENST00000254190.3	-	3	1829	c.1354C>T	c.(1354-1356)Ctg>Ttg	p.L452L	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	452	Poly-Leu.				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			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)			TACAGAAGCAGCAGGTCCAGG	0.517																																						ENST00000254190.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24						c.(1354-1356)Ctg>Ttg		chondroitin sulfate synthase 1							51	50	51					15																	101718648		2203	4300	6503	SO:0001819	synonymous_variant	22856				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	g.chr15:101718648G>A	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	17198	protein-coding gene	gene with protein product		608183	"carbohydrate (chondroitin) synthase 1"			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1354C>T	15.37:g.101718648G>A						CHSY1_ENST00000543813.1_5'UTR	p.L452L	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	1829	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		452			Poly-Leu.		Q6UX38|Q7LFU5|Q9Y2J5	Silent	SNP	ENST00000254190.3	37	c.1354C>T	CCDS10390.1																																																																																				0.517	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		11	45	0	0	0	1	0	11	45					A	101718648	G	A	101718648	2	1	435	1	0	0	0	0	0	0	0	1	3412	962	34	3		3	CHSY1	15	101718648	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	916025	101718648	812744	6694	27619											
PCSK6	5046	broad.mit.edu	37	chr15	101906538	101906538	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggaaagatccagcaacCtgcaattggaggtgtggtgt	11	10	13	7	0	0	1	0	0	0	1	1	3	1	3	2	4	3	2	2	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:101906538C>A	ENST00000561177.1	-	13	1888		c.e13-1		PCSK6_ENST00000348070.1_Splice_Site|PCSK6_ENST00000358417.3_Splice_Site|PCSK6_ENST00000344273.2_Splice_Site|PCSK6_ENST00000331826.7_Splice_Site|PCSK6_ENST00000398181.2_Splice_Site			P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6						determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCCAGCAACCTGCAATTGGA	0.542																																						ENST00000348070.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.e14-1		proprotein convertase subtilisin/kexin type 6							73	71	72					15																	101906538		1928	4131	6059	SO:0001630	splice_region_variant	5046				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	g.chr15:101906538C>A		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000561177.1:c.2520-1G>T	15.37:g.101906538C>A						PCSK6_ENST00000331826.7_Splice_Site|PCSK6_ENST00000358417.3_Splice_Site|PCSK6_ENST00000561177.1_Splice_Site|PCSK6_ENST00000344273.2_Splice_Site|PCSK6_ENST00000398181.2_Splice_Site		NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		14	1718	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)							Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Splice_Site	SNP	ENST00000561177.1	37			.	.	.	.	.	.	.	.	.	.	C	19.03	3.747803	0.69533	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4988	0.87726	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCSK6	99724061	1.000000	0.71417	0.989000	0.46669	0.976000	0.68499	7.247000	0.78257	2.351000	0.79841	0.655000	0.94253	.		0.542	PCSK6-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000416811.5	NM_002570	Intron	12	20	1	0	7.93312e-07	1	8.27737e-07	12	20					A	101906538	C	A	101906538	5	1	435	1	0	0	0	0	0	0	1	0	11604	695	24	5	1657	5	PCSK6	15	101906538	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	187890	101906538	624854	6695	27620											
RHBDF1	64285	broad.mit.edu	37	chr16	113790	113790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctcactccaaaccagtcgGcggtccccctggcatggcag	7	7	11	16	2	1	0	1	0	0	0	4	0	3	0	4	4	2	3	4	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:113790G>A	ENST00000262316.6	-	4	399	c.257C>T	c.(256-258)gCc>gTc	p.A86V	RHBDF1_ENST00000454039.2_Missense_Mutation_p.A86V	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	86					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AAACCAGTCGGCGGTCCCCCT	0.662																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(256-258)gCc>gTc		rhomboid 5 homolog 1 (Drosophila)							55	50	52					16																	113790		2203	4300	6503	SO:0001583	missense	64285				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	g.chr16:113790G>A	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.257C>T	16.37:g.113790G>A	ENSP00000262316:p.Ala86Val					RHBDF1_ENST00000454039.2_Missense_Mutation_p.A86V	p.A86V	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			4	399	-		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)	86					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.257C>T	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	33	5.286503	0.95517	.	.	ENSG00000007384	ENST00000262316;ENST00000454039;ENST00000338527;ENST00000450643;ENST00000420545;ENST00000419764	T;T;D	0.88896	0.33;-0.6;-2.44	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.93468	0.7916	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.70935	0.971;0.958;0.947	D	0.94269	0.7509	10	0.87932	D	0	-13.0322	17.0997	0.86645	0.0:0.0:1.0:0.0	.	86;109;86	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	V	86;86;122;86;122;121	ENSP00000262316:A86V;ENSP00000392133:A86V;ENSP00000408915:A86V	ENSP00000262316:A86V	A	-	2	0	RHBDF1	53790	1.000000	0.71417	0.777000	0.31699	0.949000	0.60115	9.731000	0.98807	2.354000	0.79902	0.563000	0.77884	GCC		0.662	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		9	16	0	0	0	1	0	9	16					A	113790	G	A	113790	3	1	435	1	0	0	0	0	1	0	0	0	13319	1203	42	3	2370	3	RHBDF1	16	113790	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08		113790	90240963	6696	27621											
NPRL3	8131	broad.mit.edu	37	chr16	169162	169162	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtagcagtgttgggtgcccaAcaaatcgcacattatcaatc	12	10	9	10	1	1	0	1	0	0	0	3	0	1	0	1	1	3	4	1	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:169162A>G	ENST00000399953.3	-	3	683	c.281T>C	c.(280-282)gTt>gCt	p.V94A	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Intron	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	94					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						TGGGTGCCCAACAAATCGCAC	0.493																																						ENST00000399953.3																			0				endometrium(1)|large_intestine(3)|ovary(2)	6						c.(280-282)gTt>gCt		nitrogen permease regulator-like 3 (S. cerevisiae)							88	91	90					16																	169162		1977	4153	6130	SO:0001583	missense	8131						protein binding	g.chr16:169162A>G		CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"conserved gene telomeric to alpha globin cluster"	600928	"chromosome 16 open reading frame 35"	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.281T>C	16.37:g.169162A>G	ENSP00000382834:p.Val94Ala					NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Intron	p.V94A	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN			3	683	-			94					D3DU40|Q1W6H0|Q4TT56|Q92469	Missense_Mutation	SNP	ENST00000399953.3	37	c.281T>C		.	.	.	.	.	.	.	.	.	.	A	21.3	4.135633	0.77662	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000419636	.	.	.	5.18	5.18	0.71444	Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.78923	0.4360	.	.	.	0.80722	D	1	D;D;D;D	0.76494	0.983;0.999;0.997;0.992	P;D;D;D	0.79108	0.904;0.984;0.992;0.989	T	0.82096	-0.0626	8	0.87932	D	0	-20.4455	14.5017	0.67727	1.0:0.0:0.0:0.0	.	16;94;94;94	B7Z220;Q4TT55;B7Z6Q0;Q12980	.;.;.;NPRL3_HUMAN	A	94;94;107	.	ENSP00000262313:V94A	V	-	2	0	NPRL3	109162	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.948000	0.93006	2.077000	0.62373	0.533000	0.62120	GTT		0.493	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476		3	4	0	0	0	1	0	3	4					G	169162	A	G	169162	3	3	435	1	0	0	0	0	1	0	0	0	10598	43	2	4	1471	4	NPRL3	16	169162	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	55372	169162	90185591	6697	27622											
AXIN1	8312	broad.mit.edu	37	chr16	354308	354308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgcggcccactcaccatgCgcacgcgcttcagccgctcc	6	5	10	20	6	2	0	2	0	0	0	3	1	3	0	4	1	2	3	4	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:354308C>T	ENST00000262320.3	-	5	1621	c.1250G>A	c.(1249-1251)cGc>cAc	p.R417H	AXIN1_ENST00000354866.3_Missense_Mutation_p.R417H|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	417	Interaction with GSK3B. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.?(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)				ACTCACCATGCGCACGCGCTT	0.677																																						ENST00000262320.3																			1	Unknown(1)	p.?(1)	liver(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						c.(1249-1251)cGc>cAc		axin 1							38	39	39					16																	354308		2197	4292	6489	SO:0001583	missense	8312				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	g.chr16:354308C>T	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1250G>A	16.37:g.354308C>T	ENSP00000262320:p.Arg417His					AXIN1_ENST00000354866.3_Missense_Mutation_p.R417H|AXIN1_ENST00000481769.1_5'UTR	p.R417H	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			5	1621	-		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)	417			Interaction with GSK3B (By similarity).		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.1250G>A	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780019	0.90195	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	D;D	0.93763	-3.28;-3.28	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.95130	0.8422	L	0.49126	1.545	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61874	0.895;0.847	D	0.95573	0.8640	10	0.66056	D	0.02	-1.4291	18.2748	0.90078	0.0:1.0:0.0:0.0	.	417;417	O15169-2;O15169	.;AXIN1_HUMAN	H	417	ENSP00000262320:R417H;ENSP00000346935:R417H	ENSP00000262320:R417H	R	-	2	0	AXIN1	294309	1.000000	0.71417	0.518000	0.27811	0.924000	0.55760	5.900000	0.69853	2.339000	0.79563	0.563000	0.77884	CGC		0.677	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			16	12	0	0	0	1	0	16	12					T	354308	C	T	354308	3	4	435	1	0	0	0	0	1	0	0	0	1236	768	27	1	1366	1	AXIN1	16	354308	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	185146	354308	90000445	6698	27623											
TMEM8A	58986	broad.mit.edu	37	chr16	422141	422141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatgtgccagatgctgtggGtgtagtagtagttgtcgcta	7	13	16	5	1	0	1	0	0	0	1	1	2	0	2	1	2	2	6	1	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:422141G>A	ENST00000431232.2	-	13	2322	c.2162C>T	c.(2161-2163)aCc>aTc	p.T721I	MRPL28_ENST00000199706.8_5'Flank|MRPL28_ENST00000389675.2_5'Flank|TMEM8A_ENST00000250930.3_Missense_Mutation_p.T528I|MRPL28_ENST00000429738.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	721					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GATGCTGTGGGTGTAGTAGTA	0.642																																						ENST00000431232.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						c.(2161-2163)aCc>aTc		transmembrane protein 8A							75	79	78					16																	422141		2200	4300	6500	SO:0001583	missense	58986				cell adhesion	integral to plasma membrane		g.chr16:422141G>A	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.2162C>T	16.37:g.422141G>A	ENSP00000401338:p.Thr721Ile					TMEM8A_ENST00000250930.3_Missense_Mutation_p.T528I	p.T721I	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN			13	2322	-			721					D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	c.2162C>T	CCDS10407.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.51|12.51	1.960111|1.960111	0.34565|0.34565	.|.	.|.	ENSG00000129925|ENSG00000129925	ENST00000424078|ENST00000431232;ENST00000250930;ENST00000382942	.|T;T	.|0.42131	.|0.98;0.98	4.3|4.3	3.34|3.34	0.38264|0.38264	.|.	.|0.000000	.|0.64402	.|D	.|0.000012	T|T	0.46210|0.46210	0.1381|0.1381	L|L	0.38692|0.38692	1.165|1.165	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.43523|0.43523	-0.9386|-0.9386	5|10	.|0.02654	.|T	.|1	-3.0326|-3.0326	11.721|11.721	0.51683|0.51683	0.0856:0.0:0.9144:0.0|0.0856:0.0:0.9144:0.0	.|.	.|721	.|Q9HCN3	.|TMM8A_HUMAN	S|I	189|721;528;209	.|ENSP00000401338:T721I;ENSP00000250930:T528I	.|ENSP00000250930:T528I	P|T	-|-	1|2	0|0	TMEM8A|TMEM8A	362142|362142	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.855000|0.855000	0.48748|0.48748	5.291000|5.291000	0.65667|0.65667	1.039000|1.039000	0.40074|0.40074	0.455000|0.455000	0.32223|0.32223	CCC|ACC		0.642	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		15	19	0	0	0	1	0	15	19					A	422141	G	A	422141	3	1	435	1	0	0	0	0	1	0	0	0	16211	1261	44	3	157	3	TMEM8A	16	422141	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	67833	422141	89932612	6699	27624											
TMEM8A	58986	broad.mit.edu	37	chr16	422215	422215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccatagagacgccgggCaggaggtagaaggcccagcg	11	2	18	10	3	0	2	0	0	0	2	0	5	0	3	3	5	1	2	3	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:422215C>T	ENST00000431232.2	-	13	2248	c.2088G>A	c.(2086-2088)ctG>ctA	p.L696L	MRPL28_ENST00000199706.8_5'Flank|MRPL28_ENST00000389675.2_5'Flank|TMEM8A_ENST00000250930.3_Silent_p.L503L|MRPL28_ENST00000429738.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	696					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGACGCCGGGCAGGAGGTAGA	0.612																																						ENST00000431232.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						c.(2086-2088)ctG>ctA		transmembrane protein 8A							47	48	48					16																	422215		2196	4298	6494	SO:0001819	synonymous_variant	58986				cell adhesion	integral to plasma membrane		g.chr16:422215C>T	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.2088G>A	16.37:g.422215C>T						TMEM8A_ENST00000250930.3_Silent_p.L503L	p.L696L	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN			13	2248	-			696					D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	37	c.2088G>A	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238907	0.22711	.	.	ENSG00000129925	ENST00000424078	.	.	.	4.18	-0.412	0.12367	.	.	.	.	.	T	0.43277	0.1240	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30238	-0.9985	4	.	.	.	-13.2457	3.1781	0.06575	0.2298:0.4532:0.2223:0.0947	.	.	.	.	Y	164	.	.	C	-	2	0	TMEM8A	362216	0.996000	0.38824	1.000000	0.80357	0.875000	0.50365	0.381000	0.20619	0.374000	0.24650	0.455000	0.32223	TGC		0.612	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		4	23	0	0	0	1	0	4	23					T	422215	C	T	422215	2	4	435	1	0	0	0	0	0	0	0	1	16211	697	25	3		3	TMEM8A	16	422215	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	74	422215	89932538	6700	27625											
TMEM8A	58986	broad.mit.edu	37	chr16	425225	425225	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggccctgcgagaccaggcGctcagagacaaagggtagcc	10	5	14	12	2	1	2	1	0	0	2	1	4	1	2	3	3	2	2	3	3	2	2	rs547389411		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:425225G>A	ENST00000431232.2	-	8	1507	c.1347C>T	c.(1345-1347)agC>agT	p.S449S	TMEM8A_ENST00000250930.3_Silent_p.S256S|TMEM8A_ENST00000476735.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	449					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GAGACCAGGCGCTCAGAGACA	0.642																																						ENST00000431232.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						c.(1345-1347)agC>agT		transmembrane protein 8A							69	64	66					16																	425225		2202	4300	6502	SO:0001819	synonymous_variant	58986				cell adhesion	integral to plasma membrane		g.chr16:425225G>A	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1347C>T	16.37:g.425225G>A						TMEM8A_ENST00000250930.3_Silent_p.S256S	p.S449S	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN			8	1507	-			449					D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	37	c.1347C>T	CCDS10407.1																																																																																				0.642	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		15	14	0	0	0	1	0	15	14					A	425225	G	A	425225	2	1	435	1	0	0	0	0	0	0	0	1	16211	1078	38	1		1	TMEM8A	16	425225	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3010	425225	89929528	6701	27626											
DECR2	26063	broad.mit.edu	37	chr16	457453	457453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagctggctggggccaccgGccggcgctgcctccctctct	3	7	14	17	3	1	0	0	0	1	0	3	1	2	0	5	5	2	3	5	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:457453G>A	ENST00000219481.5	+	4	368	c.230G>A	c.(229-231)gGc>gAc	p.G77D	DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Missense_Mutation_p.G65D|DECR2_ENST00000397710.1_Missense_Mutation_p.G128D	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	77					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				GGGGCCACCGGCCGGCGCTGC	0.637																																						ENST00000219481.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9						c.(229-231)gGc>gAc		2,4-dienoyl CoA reductase 2, peroxisomal							29	34	32					16																	457453		2202	4300	6502	SO:0001583	missense	26063					peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	g.chr16:457453G>A	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2754	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 17C, member 1"	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.230G>A	16.37:g.457453G>A	ENSP00000219481:p.Gly77Asp					DECR2_ENST00000461947.1_Intron|DECR2_ENST00000397710.1_Missense_Mutation_p.G128D|DECR2_ENST00000424398.2_Missense_Mutation_p.G65D	p.G77D	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN			4	368	+		Hepatocellular(16;0.00015)	77					Q6ZRS7|Q96ET0	Missense_Mutation	SNP	ENST00000219481.5	37	c.230G>A	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	g	17.71	3.456373	0.63401	.	.	ENSG00000242612	ENST00000219481;ENST00000397710;ENST00000424398	T;T	0.46451	0.87;0.87	4.88	4.88	0.63580	NAD(P)-binding domain (1);	0.046978	0.85682	D	0.000000	T	0.67126	0.2860	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72418	-0.4300	10	0.62326	D	0.03	.	15.1954	0.73084	0.0:0.0:1.0:0.0	.	77	Q9NUI1	DECR2_HUMAN	D	77;128;65	ENSP00000219481:G77D;ENSP00000400374:G65D	ENSP00000219481:G77D	G	+	2	0	DECR2	397454	1.000000	0.71417	0.356000	0.25785	0.165000	0.22458	9.213000	0.95133	2.253000	0.74438	0.556000	0.70494	GGC		0.637	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664		13	25	0	0	0	1	0	13	25					A	457453	G	A	457453	3	1	435	1	0	0	0	0	1	0	0	0	4383	1203	42	3	244	3	DECR2	16	457453	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32228	457453	89897300	6702	27627											
RAB11FIP3	9727	broad.mit.edu	37	chr16	521378	521378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacgagttcgatgacttcGtcacctatgaggcaagtggt	9	10	13	9	4	1	2	1	2	0	0	3	5	1	3	1	3	0	2	1	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:521378G>A	ENST00000262305.4	+	3	1280	c.892G>A	c.(892-894)Gtc>Atc	p.V298I	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.V298I	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	298					cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CGATGACTTCGTCACCTATGA	0.597																																					Melanoma(160;2366 2595 4474 8099)	ENST00000262305.4																			0				breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12						c.(892-894)Gtc>Atc		RAB11 family interacting protein 3 (class II)							75	60	65					16																	521378		2202	4300	6502	SO:0001583	missense	9727				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	g.chr16:521378G>A	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"EF-hand domain containing"	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.892G>A	16.37:g.521378G>A	ENSP00000262305:p.Val298Ile					RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.V298I	p.V298I	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN			3	1280	+		Hepatocellular(16;0.0218)	298					B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Missense_Mutation	SNP	ENST00000262305.4	37	c.892G>A	CCDS32351.1	.	.	.	.	.	.	.	.	.	.	G	9.364	1.068666	0.20147	.	.	ENSG00000090565	ENST00000262305;ENST00000457159;ENST00000434585	.	.	.	4.73	2.75	0.32379	.	.	.	.	.	T	0.43986	0.1272	L	0.47716	1.5	0.80722	D	1	B	0.32507	0.373	B	0.18871	0.023	T	0.37244	-0.9714	8	0.51188	T	0.08	-17.3552	8.72	0.34434	0.1839:0.0:0.8161:0.0	.	298	O75154	RFIP3_HUMAN	I	298;298;174	.	ENSP00000262305:V298I	V	+	1	0	RAB11FIP3	461379	0.974000	0.33945	0.818000	0.32626	0.211000	0.24417	2.731000	0.47343	0.678000	0.31325	0.557000	0.71058	GTC		0.597	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		7	3	0	0	0	1	0	7	3					A	521378	G	A	521378	3	1	435	1	0	0	0	0	1	0	0	0	12895	1145	40	1	902	1	RAB11FIP3	16	521378	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	63925	521378	89833375	6703	27628											
SOLH	6650	broad.mit.edu	37	chr16	602481	602481	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtacgctgtggtgtgctgCgccttcaaccactgggggcc	5	9	15	12	2	1	0	1	0	0	0	1	1	1	0	3	3	4	3	3	3	2	2	rs146988309	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:602481C>T	ENST00000219611.2	+	11	3051	c.2688C>T	c.(2686-2688)tgC>tgT	p.C896C	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	896					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TGGTGTGCTGCGCCTTCAACC	0.711													c|||	3	0.000599042	0	0	5008	,	,		11881	0.001		0.001	False		,,,				2504	0.001					ENST00000219611.2																			0											c.(2686-2688)tgC>tgT		calpain 15		C		0,4322		0,0,2161	17	23	21		2688	1.5	1	16	dbSNP_134	21	3,8557		0,3,4277	no	coding-synonymous	SOLH	NM_005632.2		0,3,6438	TT,TC,CC		0.035,0.0,0.0233		896/1087	602481	3,12879	2161	4280	6441	SO:0001819	synonymous_variant	6650							g.chr16:602481C>T	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2688C>T	16.37:g.602481C>T						LA16c-366D1.3_ENST00000565879.1_RNA	p.C896C	NM_005632.2	NP_005623.1					11	3051	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	ENST00000219611.2	37	c.2688C>T	CCDS10410.1																																																																																				0.711	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		8	19	0	0	0	1	0	8	19					T	602481	C	T	602481	2	4	435	1	0	0	0	0	0	0	0	1	14925	776	27	1		1	SOLH	16	602481	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	81103	602481	89752272	6704	27629											
C16orf11	146325	broad.mit.edu	37	chr16	613342	613342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcacaggggcgagggcGcggtctcggaagcccaagaa	9	3	19	10	4	1	1	0	0	1	1	2	3	1	2	1	6	1	1	1	6	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:613342G>A	ENST00000409413.3	+	2	327	c.48G>A	c.(46-48)gcG>gcA	p.A16A		NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		16										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						GGGCGAGGGCGCGGTCTCGGA	0.662																																						ENST00000409413.3																			0				central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(46-48)gcG>gcA		chromosome 16 open reading frame 11							51	57	55					16																	613342		2014	4161	6175	SO:0001819	synonymous_variant	146325							g.chr16:613342G>A																												ENST00000409413.3:c.48G>A	16.37:g.613342G>A							p.A16A	NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN			2	327	+			16					B8ZZ27|Q8N233|Q96AX3|Q96S23	Silent	SNP	ENST00000409413.3	37	c.48G>A	CCDS45365.1																																																																																				0.662	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			9	15	0	0	0	1	0	9	15					A	613342	G	A	613342	2	1	435	1	0	0	0	0	0	0	0	1	1810	1074	38	1		1	C16orf11	16	613342	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10861	613342	89741411	6705	27630											
PIGQ	9091	broad.mit.edu	37	chr16	624509	624509	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagctacacctgcccacCgtcctgcccgaccgccaggc	7	5	8	21	3	1	0	1	0	0	0	2	1	2	0	7	1	4	1	7	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:624509C>T	ENST00000026218.5	+	2	523	c.435C>T	c.(433-435)acC>acT	p.T145T	PIGQ_ENST00000470411.2_Silent_p.T145T|PIGQ_ENST00000321878.5_Silent_p.T145T|PIGQ_ENST00000409527.2_Silent_p.T145T	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	145					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				ACCTGCCCACCGTCCTGCCCG	0.672																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(433-435)acC>acT		phosphatidylinositol glycan anchor biosynthesis, class Q							18	14	15					16																	624509		2191	4291	6482	SO:0001819	synonymous_variant	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:624509C>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.435C>T	16.37:g.624509C>T						PIGQ_ENST00000026218.5_Silent_p.T145T|PIGQ_ENST00000409527.2_Silent_p.T145T|PIGQ_ENST00000470411.2_Silent_p.T145T	p.T145T	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			2	594	+		Hepatocellular(780;0.00335)	145					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Silent	SNP	ENST00000026218.5	37	c.435C>T	CCDS10411.1																																																																																				0.672	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		4	7	0	0	0	1	0	4	7					T	624509	C	T	624509	2	4	435	1	0	0	0	0	0	0	0	1	11896	639	23	2		2	PIGQ	16	624509	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11167	624509	89730244	6706	27631											
RAB40C	57799	broad.mit.edu	37	chr16	676092	676092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcgtgctcatgcggcacgGcatggagaagatctggaggc	9	7	15	10	3	2	2	1	0	1	2	3	4	2	3	0	5	2	3	0	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:676092G>A	ENST00000248139.3	+	5	739	c.536G>A	c.(535-537)gGc>gAc	p.G179D	RAB40C_ENST00000539661.1_Missense_Mutation_p.G179D|RAB40C_ENST00000535977.1_Missense_Mutation_p.G179D|RAB40C_ENST00000538492.1_Missense_Mutation_p.G179D	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	179	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				ATGCGGCACGGCATGGAGAAG	0.627																																					Melanoma(123;1631 1690 28262 44104 44957)	ENST00000535977.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(535-537)gGc>gAc		RAB40C, member RAS oncogene family							83	73	76					16																	676092		2201	4300	6501	SO:0001583	missense	57799				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr16:676092G>A	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"RAB, member RAS oncogene"	18285	protein-coding gene	gene with protein product			"RAS-like, family 8, member C"	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.536G>A	16.37:g.676092G>A	ENSP00000248139:p.Gly179Asp					RAB40C_ENST00000248139.3_Missense_Mutation_p.G179D|RAB40C_ENST00000539661.1_Missense_Mutation_p.G179D|RAB40C_ENST00000538492.1_Missense_Mutation_p.G179D	p.G179D	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN			6	758	+		Hepatocellular(780;0.0218)	179			SOCS box.		A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	ENST00000248139.3	37	c.536G>A	CCDS10413.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371362	0.95923	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	5.22	5.22	0.72569	SOCS protein, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88012	0.6323	M	0.72118	2.19	0.80722	D	1	D;D	0.62365	0.991;0.991	P;P	0.61592	0.891;0.891	D	0.88602	0.3150	10	0.54805	T	0.06	.	17.7582	0.88456	0.0:0.0:1.0:0.0	.	179;160	Q96S21;Q5PXE8	RB40C_HUMAN;.	D	179	ENSP00000438492:G179D;ENSP00000445050:G179D;ENSP00000438382:G179D;ENSP00000248139:G179D	ENSP00000248139:G179D	G	+	2	0	RAB40C	616093	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.747000	0.98863	2.438000	0.82558	0.561000	0.74099	GGC		0.627	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	NM_021168		19	22	0	0	0	1	0	19	22					A	676092	G	A	676092	3	1	435	1	0	0	0	0	1	0	0	0	12942	1203	42	3	554	3	RAB40C	16	676092	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	51583	676092	89678661	6707	27632											
WDR90	197335	broad.mit.edu	37	chr16	703426	703426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtggacacgggggagcagcGcttcttccttggccacacag	7	7	14	13	3	1	0	0	0	1	0	2	2	2	2	2	4	2	2	2	4	0	3	rs374428893		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:703426G>A	ENST00000293879.4	+	11	1208	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	WDR90_ENST00000549091.1_Missense_Mutation_p.R403H|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	403										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGGAGCAGCGCTTCTTCCTT	0.682																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1207-1209)cGc>cAc		WD repeat domain 90		G	HIS/ARG	2,4190		0,2,2094	43	53	50		1208	4.8	0.9	16		50	0,8406		0,0,4203	no	missense	WDR90	NM_145294.4	29	0,2,6297	AA,AG,GG		0.0,0.0477,0.0159	probably-damaging	403/1749	703426	2,12596	2096	4203	6299	SO:0001583	missense	197335							g.chr16:703426G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1208G>A	16.37:g.703426G>A	ENSP00000293879:p.Arg403His					WDR90_ENST00000293879.4_Missense_Mutation_p.R403H	p.R403H	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			11	1300	+		Hepatocellular(780;0.0218)	403					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.1208G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275590	0.80580	4.77E-4	0.0	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.01379	4.96;4.96	4.8	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.64402	U	0.000012	T	0.08582	0.0213	M	0.81179	2.53	0.80722	D	1	D;D;D	0.89917	0.989;1.0;0.958	P;D;B	0.65987	0.572;0.94;0.242	T	0.03008	-1.1083	10	0.52906	T	0.07	.	16.8626	0.86021	0.0:0.0:1.0:0.0	.	403;404;403	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	H	403	ENSP00000448122:R403H;ENSP00000293879:R403H	ENSP00000293879:R403H	R	+	2	0	WDR90	643427	1.000000	0.71417	0.919000	0.36401	0.262000	0.26303	6.152000	0.71812	2.216000	0.71823	0.561000	0.74099	CGC		0.682	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		11	21	0	0	0	1	0	11	21					A	703426	G	A	703426	3	1	435	1	0	0	0	0	1	0	0	0	17334	1087	38	1	1250	1	WDR90	16	703426	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27334	703426	89651327	6708	27633											
WDR90	197335	broad.mit.edu	37	chr16	708965	708965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagcagcaggtcctcagcGcaggggacgccgtcttcctc	7	6	12	16	3	2	0	1	0	1	0	5	1	4	1	4	3	3	3	4	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:708965G>A	ENST00000293879.4	+	24	2965	c.2965G>A	c.(2965-2967)Gca>Aca	p.A989T	WDR90_ENST00000549091.1_Missense_Mutation_p.A989T|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	989										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGTCCTCAGCGCAGGGGACGC	0.647																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(2965-2967)Gca>Aca		WD repeat domain 90							81	98	92					16																	708965		2120	4232	6352	SO:0001583	missense	197335							g.chr16:708965G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2965G>A	16.37:g.708965G>A	ENSP00000293879:p.Ala989Thr					WDR90_ENST00000293879.4_Missense_Mutation_p.A989T	p.A989T	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			24	3057	+		Hepatocellular(780;0.0218)	989					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.2965G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268920	0.59540	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.64618	-0.11;-0.11	4.79	2.8	0.32819	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.340919	0.26062	U	0.026569	T	0.59972	0.2233	L	0.47190	1.495	0.80722	D	1	P;D	0.58970	0.948;0.984	B;P	0.50490	0.325;0.642	T	0.57963	-0.7720	10	0.37606	T	0.19	.	10.3505	0.43931	0.1631:0.0:0.8369:0.0	.	989;989	F8VUX9;Q96KV7	.;WDR90_HUMAN	T	989	ENSP00000448122:A989T;ENSP00000293879:A989T	ENSP00000293879:A989T	A	+	1	0	WDR90	648966	0.995000	0.38212	0.263000	0.24496	0.241000	0.25554	2.407000	0.44565	1.012000	0.39366	0.655000	0.94253	GCA		0.647	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		25	42	0	0	0	1	0	25	42					A	708965	G	A	708965	3	1	435	1	0	0	0	0	1	0	0	0	17334	1087	38	1	3059	1	WDR90	16	708965	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5539	708965	89645788	6709	27634											
RHOT2	89941	broad.mit.edu	37	chr16	722291	722291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaccaggagaagggacaGacgcagcggagcgtcctcct	10	4	15	12	3	0	2	0	0	0	2	2	6	2	5	3	4	2	1	3	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:722291G>T	ENST00000315082.4	+	15	1347	c.1233G>T	c.(1231-1233)caG>caT	p.Q411H		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	411	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				AGAAGGGACAGACGCAGCGGA	0.652																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(1231-1233)caG>caT		ras homolog family member T2							61	60	60					16																	722291		2199	4297	6496	SO:0001583	missense	89941				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	g.chr16:722291G>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1233G>T	16.37:g.722291G>T	ENSP00000321971:p.Gln411His						p.Q411H	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			15	1347	+		Hepatocellular(780;0.0218)	411			Miro 2.		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.1233G>T	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724677	0.48833	.	.	ENSG00000140983	ENST00000315082	T	0.15256	2.44	5.1	-0.495	0.12030	EF hand associated, type-1 (1);MIRO (1);	0.110376	0.64402	D	0.000007	T	0.33177	0.0854	M	0.75264	2.295	0.54753	D	0.999988	D	0.54601	0.967	P	0.62014	0.897	T	0.09079	-1.0691	10	0.72032	D	0.01	-15.9151	9.7747	0.40612	0.3671:0.0:0.6329:0.0	.	411	Q8IXI1	MIRO2_HUMAN	H	411	ENSP00000321971:Q411H	ENSP00000321971:Q411H	Q	+	3	2	RHOT2	662292	1.000000	0.71417	0.941000	0.38009	0.627000	0.37826	2.400000	0.44504	-0.047000	0.13423	0.462000	0.41574	CAG		0.652	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		18	26	1	0	6.94344e-10	1	7.39541e-10	18	26					T	722291	G	T	722291	3	4	435	1	0	0	0	0	1	0	0	0	13344	933	33	5	1291	5	RHOT2	16	722291	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13326	722291	89632462	6710	27635											
RHOT2	89941	broad.mit.edu	37	chr16	723548	723548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgctgggggttgtcggggCcgccgtggccgcagtcctca	2	8	18	13	4	1	0	1	0	0	0	3	0	2	0	4	5	1	4	4	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:723548C>T	ENST00000315082.4	+	19	1913	c.1799C>T	c.(1798-1800)gCc>gTc	p.A600V	RHBDL1_ENST00000352681.3_5'Flank|RHBDL1_ENST00000219551.2_5'Flank	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	600	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GTTGTCGGGGCCGCCGTGGCC	0.627																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(1798-1800)gCc>gTc		ras homolog family member T2							54	65	61					16																	723548		2198	4293	6491	SO:0001583	missense	89941				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	g.chr16:723548C>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1799C>T	16.37:g.723548C>T	ENSP00000321971:p.Ala600Val						p.A600V	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			19	1913	+		Hepatocellular(780;0.0218)	600			Miro 2.		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.1799C>T	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164710	0.57476	.	.	ENSG00000140983	ENST00000315082	T	0.16597	2.33	4.88	3.93	0.45458	MIRO (1);	0.235291	0.42172	D	0.000742	T	0.29783	0.0744	M	0.76574	2.34	0.41544	D	0.988539	P	0.34977	0.478	P	0.45794	0.493	T	0.04621	-1.0938	10	0.46703	T	0.11	-5.5771	11.1031	0.48186	0.0:0.9074:0.0:0.0926	.	600	Q8IXI1	MIRO2_HUMAN	V	600	ENSP00000321971:A600V	ENSP00000321971:A600V	A	+	2	0	RHOT2	663549	0.012000	0.17670	0.008000	0.14137	0.059000	0.15707	2.095000	0.41729	1.048000	0.40298	0.462000	0.41574	GCC		0.627	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		30	47	0	0	0	1	0	30	47					T	723548	C	T	723548	3	4	435	1	0	0	0	0	1	0	0	0	13344	739	26	3	1873	3	RHOT2	16	723548	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1257	723548	89631205	6711	27636											
WDR24	84219	broad.mit.edu	37	chr16	735360	735360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtagaagtgcagcatgTcgcgcaccagcacgccgaag	11	4	13	13	5	0	1	0	0	0	1	1	2	0	1	2	0	4	5	2	0	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:735360T>C	ENST00000248142.6	-	11	2305	c.2306A>G	c.(2305-2307)gAc>gGc	p.D769G	JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.D639G			Q96S15	WDR24_HUMAN	WD repeat domain 24	769										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GTGCAGCATGTCGCGCACCAG	0.647																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(1915-1917)gAc>gGc		WD repeat domain 24							54	58	57					16																	735360		2199	4300	6499	SO:0001583	missense	84219							g.chr16:735360T>C	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.2306A>G	16.37:g.735360T>C	ENSP00000248142:p.Asp769Gly					WDR24_ENST00000248142.6_Missense_Mutation_p.D769G	p.D639G	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			7	2675	-		Hepatocellular(780;0.0218)	769					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.1916A>G		.	.	.	.	.	.	.	.	.	.	T	19.33	3.806547	0.70682	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.77877	-1.13;0.3	4.78	4.78	0.61160	.	0.101020	0.64402	D	0.000002	T	0.74589	0.3736	L	0.45352	1.415	0.58432	D	0.999991	P	0.40731	0.728	B	0.43445	0.42	T	0.78443	-0.2202	10	0.87932	D	0	-39.7672	13.6193	0.62128	0.0:0.0:0.0:1.0	.	639	Q96S15-2	.	G	769;639	ENSP00000248142:D769G;ENSP00000293883:D639G	ENSP00000248142:D769G	D	-	2	0	WDR24	675361	1.000000	0.71417	0.985000	0.45067	0.179000	0.23085	7.463000	0.80869	2.009000	0.58944	0.418000	0.28097	GAC		0.647	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		11	19	0	0	0	1	0	11	19					C	735360	T	C	735360	3	2	435	1	0	0	0	0	1	0	0	0	17278	1667	58	4	468	4	WDR24	16	735360	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	11812	735360	89619393	6712	27637											
WDR24	84219	broad.mit.edu	37	chr16	736980	736980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgccagtgtagggcttgcGccccgactcggcagccacga	6	6	14	15	5	0	0	0	0	0	0	2	2	0	0	4	2	2	3	4	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:736980G>A	ENST00000248142.6	-	7	1485	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	JMJD8_ENST00000412368.2_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.R366C			Q96S15	WDR24_HUMAN	WD repeat domain 24	496										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TAGGGCTTGCGCCCCGACTCG	0.697																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(1096-1098)Cgc>Tgc		WD repeat domain 24							8	11	10					16																	736980		2167	4265	6432	SO:0001583	missense	84219							g.chr16:736980G>A	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1486C>T	16.37:g.736980G>A	ENSP00000248142:p.Arg496Cys					WDR24_ENST00000248142.6_Missense_Mutation_p.R496C	p.R366C	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			3	1855	-		Hepatocellular(780;0.0218)	496					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.1096C>T		.	.	.	.	.	.	.	.	.	.	G	16.37	3.105527	0.56291	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.78364	-1.17;0.24	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.80093	0.4560	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.81346	-0.0974	10	0.66056	D	0.02	-41.5458	12.0026	0.53240	0.0:0.0:0.8271:0.1729	.	366	Q96S15-2	.	C	496;366	ENSP00000248142:R496C;ENSP00000293883:R366C	ENSP00000248142:R496C	R	-	1	0	WDR24	676981	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	5.251000	0.65438	2.513000	0.84729	0.655000	0.94253	CGC		0.697	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		7	5	0	0	0	1	0	7	5					A	736980	G	A	736980	3	1	435	1	0	0	0	0	1	0	0	0	17278	1087	38	1	1304	1	WDR24	16	736980	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1620	736980	89617773	6713	27638											
WDR24	84219	broad.mit.edu	37	chr16	737159	737159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggggtcgtgggggtggCgccaggcaattcccgtggtg	5	7	21	8	3	0	0	0	0	0	0	2	1	1	1	2	8	0	1	2	8	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:737159C>T	ENST00000248142.6	-	7	1306	c.1307G>A	c.(1306-1308)cGc>cAc	p.R436H	JMJD8_ENST00000412368.2_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.R306H			Q96S15	WDR24_HUMAN	WD repeat domain 24	436										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GTGGGGGTGGCGCCAGGCAAT	0.647																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(916-918)cGc>cAc		WD repeat domain 24							37	44	42					16																	737159		2200	4300	6500	SO:0001583	missense	84219							g.chr16:737159C>T	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1307G>A	16.37:g.737159C>T	ENSP00000248142:p.Arg436His					WDR24_ENST00000248142.6_Missense_Mutation_p.R436H	p.R306H	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			3	1676	-		Hepatocellular(780;0.0218)	436					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.917G>A		.	.	.	.	.	.	.	.	.	.	C	19.86	3.905297	0.72868	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.26660	1.72;1.72	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.43589	-0.9382	10	0.62326	D	0.03	-1.147	16.396	0.83605	0.0:1.0:0.0:0.0	.	306	Q96S15-2	.	H	436;306	ENSP00000248142:R436H;ENSP00000293883:R306H	ENSP00000248142:R436H	R	-	2	0	WDR24	677160	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	6.923000	0.75817	2.513000	0.84729	0.655000	0.94253	CGC		0.647	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		5	12	0	0	0	1	0	5	12					T	737159	C	T	737159	3	4	435	1	0	0	0	0	1	0	0	0	17278	768	27	1	1483	1	WDR24	16	737159	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	179	737159	89617594	6714	27639											
FBXL16	146330	broad.mit.edu	37	chr16	747093	747093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgagaaataccagaagaGcccattgaggatcttctcgt	12	8	11	10	2	2	4	0	1	2	3	3	6	2	5	3	2	2	0	3	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:747093G>A	ENST00000397621.1	-	2	644	c.313C>T	c.(313-315)Ctc>Ttc	p.L105F	FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000562563.1_5'Flank|FBXL16_ENST00000324361.5_Missense_Mutation_p.L105F	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	105	F-box.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				TACCAGAAGAGCCCATTGAGG	0.682																																						ENST00000397621.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10						c.(313-315)Ctc>Ttc		F-box and leucine-rich repeat protein 16							23	26	25					16																	747093		2198	4298	6496	SO:0001583	missense	146330							g.chr16:747093G>A	BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"F-boxes / Leucine-rich repeats"	14150	protein-coding gene	gene with protein product		609082	"chromosome 16 open reading frame 22"	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.313C>T	16.37:g.747093G>A	ENSP00000380746:p.Leu105Phe					FBXL16_ENST00000324361.5_Missense_Mutation_p.L105F	p.L105F	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN			2	644	-		Hepatocellular(780;0.0218)	105			F-box.		B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Missense_Mutation	SNP	ENST00000397621.1	37	c.313C>T	CCDS10421.1	.	.	.	.	.	.	.	.	.	.	g	5.209	0.224029	0.09863	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	T;T	0.22945	1.93;1.93	4.25	3.29	0.37713	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.20901	0.0503	L	0.36672	1.1	0.44247	D	0.997094	B	0.25667	0.131	B	0.30401	0.115	T	0.04373	-1.0956	10	0.42905	T	0.14	.	9.3707	0.38252	0.1839:0.0:0.8161:0.0	.	105	Q8N461	FXL16_HUMAN	F	105	ENSP00000380746:L105F;ENSP00000318674:L105F	ENSP00000318674:L105F	L	-	1	0	FBXL16	687094	1.000000	0.71417	0.979000	0.43373	0.973000	0.67179	4.216000	0.58540	0.774000	0.33427	0.313000	0.20887	CTC		0.682	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206851.2	NM_153350		7	17	0	0	0	1	0	7	17					A	747093	G	A	747093	3	1	435	1	0	0	0	0	1	0	0	0	5712	971	34	3	1146	3	FBXL16	16	747093	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9934	747093	89607660	6715	27640											
NARFL	64428	broad.mit.edu	37	chr16	784318	784318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggggaggatgaagctgcCgtgagtcttctcggcatagc	7	9	17	8	2	2	2	0	2	2	0	3	4	2	4	1	4	3	2	1	4	2	2	rs141751860	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:784318C>T	ENST00000251588.2	-	6	620	c.604G>A	c.(604-606)Ggc>Agc	p.G202S	HAGHL_ENST00000569604.1_3'UTR|NARFL_ENST00000562862.1_5'Flank|NARFL_ENST00000540986.1_Missense_Mutation_p.G100S|NARFL_ENST00000568545.1_Missense_Mutation_p.G100S|NARFL_ENST00000301694.5_Silent_p.T157T	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	202					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				ATGAAGCTGCCGTGAGTCTTC	0.687													C|||	3	0.000599042	0.0023	0	5008	,	,		14940	0		0	False		,,,				2504	0					ENST00000540986.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)	9						c.(298-300)Ggc>Agc		nuclear prelamin A recognition factor-like		C	SER/GLY	1,4395	2.1+/-5.4	0,1,2197	37	37	37		604	3.7	0.9	16	dbSNP_134	37	0,8598		0,0,4299	no	missense	NARFL	NM_022493.1	56	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	202/477	784318	1,12993	2198	4299	6497	SO:0001583	missense	64428				iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	g.chr16:784318C>T	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 1"	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.604G>A	16.37:g.784318C>T	ENSP00000251588:p.Gly202Ser					HAGHL_ENST00000569604.1_3'UTR|NARFL_ENST00000568545.1_Missense_Mutation_p.G100S|NARFL_ENST00000301694.5_Silent_p.T157T|NARFL_ENST00000251588.2_Missense_Mutation_p.G202S	p.G100S			Q9H6Q4	NARFL_HUMAN			5	1733	-		Hepatocellular(780;0.0218)	202					A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Missense_Mutation	SNP	ENST00000251588.2	37	c.298G>A	CCDS10425.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894991	0.91962	2.27E-4	0.0	ENSG00000103245	ENST00000251588;ENST00000540986	T;T	0.44083	0.93;0.93	4.68	3.73	0.42828	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.194907	0.56097	N	0.000040	T	0.55289	0.1911	M	0.67625	2.065	0.80722	D	1	P	0.42993	0.797	P	0.57009	0.811	T	0.51593	-0.8686	10	0.28530	T	0.3	-24.6501	12.0789	0.53659	0.0:0.9166:0.0:0.0833	.	202	Q9H6Q4	NARFL_HUMAN	S	202;100	ENSP00000251588:G202S;ENSP00000444008:G100S	ENSP00000251588:G202S	G	-	1	0	NARFL	724319	1.000000	0.71417	0.926000	0.36857	0.893000	0.52053	3.592000	0.53993	1.215000	0.43411	-0.274000	0.10170	GGC		0.687	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493		11	16	0	0	0	1	0	11	16					T	784318	C	T	784318	3	4	435	1	0	0	0	0	1	0	0	0	10168	652	23	2	850	2	NARFL	16	784318	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	37225	784318	89570435	6716	27641											
RPUSD1	113000	broad.mit.edu	37	chr16	836249	836249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggtgtccgtggggatgcGcaggtagaaagcgtgcagca	8	7	17	9	4	0	1	0	0	0	1	2	2	1	2	1	4	4	4	1	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:836249G>A	ENST00000561734.1	-	5	883	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	RPUSD1_ENST00000567114.1_Missense_Mutation_p.R85C|RPUSD1_ENST00000565809.1_3'UTR|CHTF18_ENST00000262315.9_5'Flank|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000455171.2_5'Flank|MSLNL_ENST00000442466.1_5'Flank|RPUSD1_ENST00000007264.2_Missense_Mutation_p.R214C			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	214					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GTGGGGATGCGCAGGTAGAAA	0.667																																						ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(640-642)Cgc>Tgc		RNA pseudouridylate synthase domain containing 1							80	89	86					16																	836249		2200	4300	6500	SO:0001583	missense	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:836249G>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"RNA pseudouridylate synthase domain containing"	14173	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 40"	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.640C>T	16.37:g.836249G>A	ENSP00000455026:p.Arg214Cys					RPUSD1_ENST00000567114.1_Missense_Mutation_p.R85C|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000007264.2_Missense_Mutation_p.R214C	p.R214C			Q9UJJ7	RUSD1_HUMAN			5	883	-		Hepatocellular(780;0.00335)	214					D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.640C>T	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849223	0.51270	.	.	ENSG00000007376	ENST00000007264	T	0.23147	1.92	4.17	3.22	0.36961	Pseudouridine synthase, catalytic domain (1);	0.106751	0.64402	N	0.000004	T	0.33673	0.0871	L	0.52206	1.635	0.48901	D	0.999729	D	0.67145	0.996	P	0.53809	0.735	T	0.11036	-1.0604	10	0.87932	D	0	-38.7899	10.6671	0.45736	0.0957:0.0:0.9043:0.0	.	214	Q9UJJ7	RUSD1_HUMAN	C	214	ENSP00000007264:R214C	ENSP00000007264:R214C	R	-	1	0	RPUSD1	776250	1.000000	0.71417	1.000000	0.80357	0.146000	0.21551	5.551000	0.67274	0.992000	0.38840	0.456000	0.33151	CGC		0.667	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		5	76	0	0	0	1	0	5	76					A	836249	G	A	836249	3	1	435	1	0	0	0	0	1	0	0	0	13666	1087	38	1	302	1	RPUSD1	16	836249	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	51931	836249	89518504	6717	27642											
RPUSD1	113000	broad.mit.edu	37	chr16	836869	836869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggagacaggatcgcctgCgtacagcccgtgttccagaa	9	9	12	11	3	0	2	0	0	0	2	2	4	1	3	3	2	3	2	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:836869C>T	ENST00000561734.1	-	4	712	c.469G>A	c.(469-471)Gca>Aca	p.A157T	RPUSD1_ENST00000567114.1_Missense_Mutation_p.A28T|RPUSD1_ENST00000565809.1_Silent_p.T122T|CHTF18_ENST00000262315.9_5'Flank|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000007264.2_Missense_Mutation_p.A157T			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	157					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.A157T(1)		endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GGATCGCCTGCGTACAGCCCG	0.607																																						ENST00000561734.1																			1	Substitution - Missense(1)	p.A157T(1)	endometrium(1)	endometrium(3)|lung(2)|skin(2)	7						c.(469-471)Gca>Aca		RNA pseudouridylate synthase domain containing 1							164	149	154					16																	836869		2200	4300	6500	SO:0001583	missense	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:836869C>T	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"RNA pseudouridylate synthase domain containing"	14173	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 40"	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.469G>A	16.37:g.836869C>T	ENSP00000455026:p.Ala157Thr					RPUSD1_ENST00000567114.1_Missense_Mutation_p.A28T|RPUSD1_ENST00000565809.1_Silent_p.T122T|RPUSD1_ENST00000007264.2_Missense_Mutation_p.A157T	p.A157T			Q9UJJ7	RUSD1_HUMAN			4	712	-		Hepatocellular(780;0.00335)	157					D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.469G>A	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	C	4.510	0.094529	0.08632	.	.	ENSG00000007376	ENST00000007264	T	0.14266	2.52	4.36	2.34	0.29019	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.944832	0.08896	N	0.877925	T	0.08891	0.0220	L	0.28649	0.875	0.09310	N	1	B	0.32350	0.366	B	0.27887	0.084	T	0.38845	-0.9642	10	0.18276	T	0.48	-3.4072	6.8051	0.23772	0.3125:0.6007:0.0:0.0869	.	157	Q9UJJ7	RUSD1_HUMAN	T	157	ENSP00000007264:A157T	ENSP00000007264:A157T	A	-	1	0	RPUSD1	776870	0.480000	0.25933	0.015000	0.15790	0.295000	0.27426	2.095000	0.41729	0.440000	0.26502	0.549000	0.68633	GCA		0.607	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		18	29	0	0	0	1	0	18	29					T	836869	C	T	836869	3	4	435	1	0	0	0	0	1	0	0	0	13666	768	27	1	477	1	RPUSD1	16	836869	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	620	836869	89517884	6718	27643											
SSTR5	6755	broad.mit.edu	37	chr16	1129348	1129348	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtggccaagctggcgagCgccgcggcctgggtcctgtc	3	7	17	14	5	0	0	0	0	0	0	2	1	1	0	4	4	2	1	4	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1129348C>T	ENST00000293897.4	+	1	568	c.480C>T	c.(478-480)agC>agT	p.S160S	SSTR5_ENST00000562758.1_Silent_p.S160S|SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000397547.2_Silent_p.S160S	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	160					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	AGCTGGCGAGCGCCGCGGCCT	0.711																																						ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(478-480)agC>agT		somatostatin receptor 5	Octreotide(DB00104)																																			SO:0001819	synonymous_variant	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129348C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.480C>T	16.37:g.1129348C>T						SSTR5_ENST00000562758.1_Silent_p.S160S|SSTR5_ENST00000397547.2_Silent_p.S160S	p.S160S	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	568	+		Hepatocellular(780;0.00369)	160					P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	c.480C>T	CCDS10429.1																																																																																				0.711	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			8	6	0	0	0	1	0	8	6					T	1129348	C	T	1129348	2	4	435	1	0	0	0	0	0	0	0	1	15200	767	27	1		1	SSTR5	16	1129348	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	292479	1129348	89225405	6719	27644											
SSTR5	6755	broad.mit.edu	37	chr16	1129430	1129430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagggcggtacctgcaacGccagctggccggagcccgtg	7	4	17	13	4	0	0	0	0	0	0	0	2	0	2	4	5	5	3	4	5	2	1	rs565410160		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1129430G>A	ENST00000293897.4	+	1	650	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	SSTR5_ENST00000562758.1_Missense_Mutation_p.A188T|SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000397547.2_Missense_Mutation_p.A188T	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	188					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TACCTGCAACGCCAGCTGGCC	0.687													G|||	1	0.000199681	0	0	5008	,	,		13281	0.001		0	False		,,,				2504	0					ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(562-564)Gcc>Acc		somatostatin receptor 5	Octreotide(DB00104)						22	26	24					16																	1129430		2171	4280	6451	SO:0001583	missense	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129430G>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.562G>A	16.37:g.1129430G>A	ENSP00000293897:p.Ala188Thr					SSTR5_ENST00000562758.1_Missense_Mutation_p.A188T|SSTR5_ENST00000397547.2_Missense_Mutation_p.A188T	p.A188T	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	650	+		Hepatocellular(780;0.00369)	188					P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.562G>A	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728146	0.30593	.	.	ENSG00000162009	ENST00000397547;ENST00000293897;ENST00000539762	T;T	0.36878	1.23;1.23	4.76	-4.09	0.03951	GPCR, rhodopsin-like superfamily (1);	0.586225	0.17793	N	0.161840	T	0.17023	0.0409	N	0.14661	0.345	0.22468	N	0.999076	B	0.17038	0.02	B	0.12837	0.008	T	0.18116	-1.0347	10	0.72032	D	0.01	.	7.7959	0.29148	0.453:0.238:0.3089:0.0	.	188	P35346	SSR5_HUMAN	T	188	ENSP00000380680:A188T;ENSP00000293897:A188T	ENSP00000293897:A188T	A	+	1	0	SSTR5	1069431	0.987000	0.35691	0.962000	0.40283	0.464000	0.32679	0.386000	0.20702	-0.218000	0.10018	-0.311000	0.09066	GCC		0.687	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			3	5	0	0	0	1	0	3	5					A	1129430	G	A	1129430	3	1	435	1	0	0	0	0	1	0	0	0	15200	1087	38	1	564	1	SSTR5	16	1129430	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	82	1129430	89225323	6720	27645											
CACNA1H	8912	broad.mit.edu	37	chr16	1265558	1265558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggctacgggcatgcgcGccctgctggacactgtggtg	6	8	16	11	3	0	1	0	0	0	1	0	2	0	2	1	4	3	3	1	4	1	1	rs61372944		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1265558G>A	ENST00000348261.5	+	30	5457	c.5209G>A	c.(5209-5211)Gcc>Acc	p.A1737T	CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1731T|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1731T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1737					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GGGCATGCGCGCCCTGCTGGA	0.711																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(5209-5211)Gcc>Acc		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						32	37	35					16																	1265558		2070	4189	6259	SO:0001583	missense	8912				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	g.chr16:1265558G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5209G>A	16.37:g.1265558G>A	ENSP00000334198:p.Ala1737Thr					CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1731T|CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1731T	p.A1737T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			30	5457	+		Hepatocellular(780;0.00369)	1737					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.5209G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034983	0.35893	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98135	-4.74;-4.74	3.65	3.65	0.41850	Ion transport (1);	0.061575	0.64402	D	0.000005	D	0.96784	0.8950	N	0.13327	0.33	0.45490	D	0.998458	D;D;P;D;D	0.89917	1.0;0.975;0.894;0.961;0.999	D;P;B;P;D	0.81914	0.995;0.792;0.393;0.567;0.987	D	0.97787	1.0236	10	0.87932	D	0	.	14.8334	0.70164	0.0:0.0:1.0:0.0	rs61372944	483;472;478;1731;1737	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	T	1737;1731	ENSP00000334198:A1737T;ENSP00000351401:A1731T	ENSP00000334198:A1737T	A	+	1	0	CACNA1H	1205559	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.406000	0.80017	2.035000	0.60131	0.491000	0.48974	GCC		0.711	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		4	16	0	0	0	1	0	4	16					A	1265558	G	A	1265558	3	1	435	1	0	0	0	0	1	0	0	0	2545	1087	38	1	5323	1	CACNA1H	16	1265558	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	136128	1265558	89089195	6721	27646											
UBE2I	7329	broad.mit.edu	37	chr16	1365672	1365672	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactccgtgggaaggaggCttgtttaaactacggatgct	10	10	13	8	2	0	1	0	0	0	1	1	4	1	4	1	4	3	3	1	4	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1365672C>T	ENST00000355803.4	+	4	719	c.168C>T	c.(166-168)ggC>ggT	p.G56G	UBE2I_ENST00000406620.1_Silent_p.G56G|UBE2I_ENST00000402301.1_Silent_p.G56G|UBE2I_ENST00000325437.5_Silent_p.G56G|UBE2I_ENST00000566587.1_Silent_p.G56G|UBE2I_ENST00000397515.2_Silent_p.G56G|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000397514.3_Silent_p.G56G|UBE2I_ENST00000403747.2_Silent_p.G56G	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	56					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				GGGAAGGAGGCTTGTTTAAAC	0.537																																						ENST00000355803.4																			0				breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5						c.(166-168)ggC>ggT		ubiquitin-conjugating enzyme E2I							139	136	137					16																	1365672		2199	4300	6499	SO:0001819	synonymous_variant	7329				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	g.chr16:1365672C>T	D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"Ubiquitin-conjugating enzymes E2"	12485	protein-coding gene	gene with protein product		601661	"ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)", "ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.168C>T	16.37:g.1365672C>T						UBE2I_ENST00000397515.2_Silent_p.G56G|UBE2I_ENST00000566587.1_Silent_p.G56G|UBE2I_ENST00000325437.5_Silent_p.G56G|UBE2I_ENST00000402301.1_Silent_p.G56G|UBE2I_ENST00000397514.3_Silent_p.G56G|UBE2I_ENST00000406620.1_Silent_p.G56G|UBE2I_ENST00000403747.2_Silent_p.G56G	p.G56G	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN			4	719	+		Hepatocellular(780;0.00369)	56					D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Silent	SNP	ENST00000355803.4	37	c.168C>T	CCDS10433.1																																																																																				0.537	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250317.2	NM_003345		46	83	0	0	0	1	0	46	83					T	1365672	C	T	1365672	2	4	435	1	0	0	0	0	0	0	0	1	16856	784	28	3		3	UBE2I	16	1365672	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	100114	1365672	88989081	6722	27647											
BAIAP3	8938	broad.mit.edu	37	chr16	1391167	1391167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaagtctctgtcatgcgtgCcaagaaccttctggccaagg	10	9	11	11	1	3	1	1	0	2	1	4	2	3	1	3	2	3	0	3	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1391167C>T	ENST00000324385.5	+	7	769	c.611C>T	c.(610-612)gCc>gTc	p.A204V	BAIAP3_ENST00000397488.2_Missense_Mutation_p.A186V|BAIAP3_ENST00000397489.1_Missense_Mutation_p.A186V|BAIAP3_ENST00000562208.1_Missense_Mutation_p.A146V|BAIAP3_ENST00000426824.3_Missense_Mutation_p.A169V|BAIAP3_ENST00000421665.2_Missense_Mutation_p.A169V|BAIAP3_ENST00000568887.1_Missense_Mutation_p.A141V	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	204	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GTCATGCGTGCCAAGAACCTT	0.682																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(610-612)gCc>gTc		BAI1-associated protein 3							62	59	60					16																	1391167		2198	4300	6498	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1391167C>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.611C>T	16.37:g.1391167C>T	ENSP00000324510:p.Ala204Val					BAIAP3_ENST00000426824.3_Missense_Mutation_p.A169V|BAIAP3_ENST00000397488.2_Missense_Mutation_p.A186V|BAIAP3_ENST00000568887.1_Missense_Mutation_p.A141V|BAIAP3_ENST00000397489.1_Missense_Mutation_p.A186V|BAIAP3_ENST00000421665.2_Missense_Mutation_p.A169V|BAIAP3_ENST00000562208.1_Missense_Mutation_p.A146V	p.A204V	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			7	769	+		Hepatocellular(780;0.0893)	204			C2 1.		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.611C>T	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411828	0.62511	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	D;D;D;D;T	0.88354	-2.37;-2.37;-2.37;-2.37;0.02	4.86	3.87	0.44632	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.131649	0.49916	D	0.000136	D	0.93664	0.7976	M	0.81497	2.545	0.51482	D	0.999924	P;D;P;P;D	0.76494	0.819;0.999;0.907;0.907;0.964	B;D;P;P;P	0.73380	0.412;0.98;0.735;0.735;0.753	D	0.93969	0.7247	10	0.87932	D	0	-31.2323	11.9889	0.53163	0.1744:0.8256:0.0:0.0	.	169;221;146;204;186	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	V	169;186;204;186;169	ENSP00000407242:A169V;ENSP00000380625:A186V;ENSP00000324510:A204V;ENSP00000380626:A186V;ENSP00000409533:A169V	ENSP00000324510:A204V	A	+	2	0	BAIAP3	1331168	1.000000	0.71417	0.989000	0.46669	0.501000	0.33797	2.097000	0.41748	1.207000	0.43291	0.313000	0.20887	GCC		0.682	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			12	17	0	0	0	1	0	12	17					T	1391167	C	T	1391167	3	4	435	1	0	0	0	0	1	0	0	0	1304	739	26	3	637	3	BAIAP3	16	1391167	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25495	1391167	88963586	6723	27648											
C16orf91	283951	broad.mit.edu	37	chr16	1478455	1478455	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccgacgaggccgagcTgaggtccacctgcgcccgaa	9	3	13	16	5	0	1	0	1	0	0	1	5	1	1	5	2	3	2	5	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1478455T>C	ENST00000310355.1	-	2	195	c.196A>G	c.(196-198)Agc>Ggc	p.S66G				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GAGGCCGAGCTGAGGTCCACC	0.682																																						ENST00000310355.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(196-198)Agc>Ggc		chromosome 16 open reading frame 91							39	38	38					16																	1478455		2192	4299	6491	SO:0001583	missense	283951					integral to membrane		g.chr16:1478455T>C	BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"cattle cerebrum and skeletal muscle-specific protein 1 family member"						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000310355.1:c.196A>G	16.37:g.1478455T>C	ENSP00000311390:p.Ser66Gly						p.S66G			Q4G0I0	CSMT1_HUMAN			2	195	-			0					Q96RZ0	Missense_Mutation	SNP	ENST00000310355.1	37	c.196A>G	CCDS32360.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.970279	0.34754	.	.	ENSG00000174109	ENST00000310355	.	.	.	1.21	0.0562	0.14318	.	.	.	.	.	T	0.35068	0.0919	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36962	-0.9726	5	0.87932	D	0	.	3.0628	0.06205	0.0:0.2785:0.0:0.7215	.	.	.	.	G	66	.	ENSP00000311390:S66G	S	-	1	0	C16orf91	1418456	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-2.694000	0.00828	-0.007000	0.14345	-0.415000	0.06103	AGC		0.682	C16orf91-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001010878		9	10	0	0	0	1	0	9	10					C	1478455	T	C	1478455	3	2	435	1	0	0	0	0	1	0	0	0	1844	1580	55	4	888	4	C16orf91	16	1478455	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	87288	1478455	88876298	6724	27649											
CLCN7	1186	broad.mit.edu	37	chr16	1498404	1498404	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagccgttgtgattggaCgccgtgtcgctcagcacgtc	6	9	15	11	5	1	1	1	1	0	0	3	3	1	3	2	2	2	3	2	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1498404C>T	ENST00000382745.4	-	21	2570	c.1965G>A	c.(1963-1965)gcG>gcA	p.A655A	LA16c-390E6.5_ENST00000566287.1_RNA|CLCN7_ENST00000262318.8_Silent_p.A631A|CLCN7_ENST00000448525.1_Silent_p.A631A	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	655	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TGTGATTGGACGCCGTGTCGC	0.647																																						ENST00000382745.4																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(1963-1965)gcG>gcA		chloride channel, voltage-sensitive 7							89	65	73					16																	1498404		2197	4297	6494	SO:0001819	synonymous_variant	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1498404C>T	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1965G>A	16.37:g.1498404C>T						CLCN7_ENST00000262318.8_Silent_p.A631A|CLCN7_ENST00000448525.1_Silent_p.A631A	p.A655A	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN			21	2570	-		Hepatocellular(780;0.0893)	655			CBS 1.		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	c.1965G>A	CCDS32361.1																																																																																				0.647	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		17	15	0	0	0	1	0	17	15					T	1498404	C	T	1498404	2	4	435	1	0	0	0	0	0	0	0	1	3468	523	19	1		1	CLCN7	16	1498404	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19949	1498404	88856349	6725	27650											
IFT140	9742	broad.mit.edu	37	chr16	1573865	1573865	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgccctgtccatctgcacGcccttctcctcgtagtatcg	5	11	7	18	4	2	0	0	0	2	0	6	0	3	0	5	0	1	3	5	0	2	3	rs200748918		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1573865G>A	ENST00000426508.2	-	25	3597	c.3234C>T	c.(3232-3234)ggC>ggT	p.G1078G	IFT140_ENST00000361339.5_Silent_p.G272G	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1078					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCATCTGCACGCCCTTCTCCT	0.667																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(3232-3234)ggC>ggT		intraflagellar transport 140 homolog (Chlamydomonas)							77	59	65					16																	1573865		2199	4300	6499	SO:0001819	synonymous_variant	9742							g.chr16:1573865G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3234C>T	16.37:g.1573865G>A						IFT140_ENST00000361339.5_Silent_p.G272G	p.G1078G	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			25	3597	-		Hepatocellular(780;0.219)	1078					A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.3234C>T	CCDS10439.1																																																																																				0.667	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		7	20	0	0	0	1	0	7	20					A	1573865	G	A	1573865	2	1	435	1	0	0	0	0	0	0	0	1	7556	1074	38	1		1	IFT140	16	1573865	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	75461	1573865	88780888	6726	27651											
IFT140	9742	broad.mit.edu	37	chr16	1614036	1614036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttggggctgcccgtttgCagactgaggctgggagcgcg	5	9	17	10	3	1	2	0	1	1	1	1	3	1	3	1	4	3	4	1	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1614036C>T	ENST00000426508.2	-	17	2392	c.2029G>A	c.(2029-2031)Gca>Aca	p.A677T	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	677					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGCCCGTTTGCAGACTGAGGC	0.567																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(2029-2031)Gca>Aca		intraflagellar transport 140 homolog (Chlamydomonas)							60	67	65					16																	1614036		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1614036C>T	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2029G>A	16.37:g.1614036C>T	ENSP00000406012:p.Ala677Thr					IFT140_ENST00000439987.2_5'UTR	p.A677T	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			17	2392	-		Hepatocellular(780;0.219)	677					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.2029G>A	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	7.474	0.647201	0.14516	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.66099	-0.19	4.1	-0.605	0.11623	.	1.281390	0.04836	N	0.439679	T	0.43700	0.1259	N	0.20685	0.6	0.09310	N	1	B;B	0.18741	0.002;0.03	B;B	0.13407	0.002;0.009	T	0.18272	-1.0342	10	0.14656	T	0.56	.	7.6862	0.28542	0.0:0.5622:0.0:0.4378	.	677;402	Q96RY7;B4DR58	IF140_HUMAN;.	T	677	ENSP00000406012:A677T	ENSP00000380562:A677T	A	-	1	0	IFT140	1554037	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.644000	0.02002	-0.046000	0.13446	0.467000	0.42956	GCA		0.567	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		23	26	0	0	0	1	0	23	26					T	1614036	C	T	1614036	3	4	435	1	0	0	0	0	1	0	0	0	7556	710	25	3	2419	3	IFT140	16	1614036	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	40171	1614036	88740717	6727	27652											
IFT140	9742	broad.mit.edu	37	chr16	1630763	1630763	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggagcagcaacttacctgCcaggttcgaacttgaactcg	10	9	11	11	2	0	1	0	1	0	0	2	3	0	2	2	2	7	3	2	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1630763C>T	ENST00000426508.2	-	13	1884	c.1521G>A	c.(1519-1521)tgG>tgA	p.W507*	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR|LA16c-425C2.1_ENST00000568149.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	507					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AACTTACCTGCCAGGTTCGAA	0.438																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(1519-1521)tgG>tgA		intraflagellar transport 140 homolog (Chlamydomonas)							105	82	89					16																	1630763		2199	4300	6499	SO:0001587	stop_gained	9742							g.chr16:1630763C>T	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1521G>A	16.37:g.1630763C>T	ENSP00000406012:p.Trp507*					LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	p.W507*	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			13	1884	-		Hepatocellular(780;0.219)	507					A2A2A8|D3DU75|O60332|Q9UG52	Nonsense_Mutation	SNP	ENST00000426508.2	37	c.1521G>A	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	42	9.267858	0.99120	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	.	.	.	5.42	5.42	0.78866	.	0.193647	0.47455	D	0.000234	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	19.5644	0.95388	0.0:1.0:0.0:0.0	.	.	.	.	X	507	.	ENSP00000380562:W507X	W	-	3	0	IFT140	1570764	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.970000	0.49240	2.702000	0.92279	0.655000	0.94253	TGG		0.438	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		20	20	0	0	0	1	0	20	20					T	1630763	C	T	1630763	4	4	435	1	0	0	0	0	0	1	0	0	7556	740	26	3	2943	3	IFT140	16	1630763	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16727	1630763	88723990	6728	27653											
IFT140	9742	broad.mit.edu	37	chr16	1634265	1634265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtcggtgcgcaggctgtGtgcgacccccgtggacagga	6	7	16	12	4	0	0	0	0	0	0	1	3	0	2	2	4	2	2	2	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1634265G>A	ENST00000426508.2	-	11	1675	c.1312C>T	c.(1312-1314)Cac>Tac	p.H438Y	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	438					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CGCAGGCTGTGTGCGACCCCC	0.627																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(1312-1314)Cac>Tac		intraflagellar transport 140 homolog (Chlamydomonas)							48	39	42					16																	1634265		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1634265G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1312C>T	16.37:g.1634265G>A	ENSP00000406012:p.His438Tyr					LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	p.H438Y	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			11	1675	-		Hepatocellular(780;0.219)	438					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.1312C>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	4.295	0.054036	0.08291	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.57752	0.38	5.51	2.33	0.28932	.	0.545310	0.20826	N	0.084977	T	0.37376	0.1001	L	0.45698	1.435	0.33626	D	0.605449	B;B	0.10296	0.002;0.003	B;B	0.13407	0.003;0.009	T	0.42189	-0.9466	10	0.02654	T	1	.	8.7345	0.34519	0.3836:0.0:0.6164:0.0	.	438;163	Q96RY7;B4DR58	IF140_HUMAN;.	Y	438	ENSP00000406012:H438Y	ENSP00000380562:H438Y	H	-	1	0	IFT140	1574266	0.974000	0.33945	0.312000	0.25196	0.015000	0.08874	1.765000	0.38481	0.324000	0.23333	0.655000	0.94253	CAC		0.627	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		10	9	0	0	0	1	0	10	9					A	1634265	G	A	1634265	3	1	435	1	0	0	0	0	1	0	0	0	7556	1377	48	3	3160	3	IFT140	16	1634265	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3502	1634265	88720488	6729	27654											
CRAMP1L	57585	broad.mit.edu	37	chr16	1706079	1706079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgccaaggacgcccacGtgctgcccccagcccagatc	9	4	11	17	2	0	2	0	0	0	2	1	3	0	3	5	1	4	1	5	1	1	0	rs571857474		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1706079G>A	ENST00000397412.3	+	10	1420	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.V438M|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.V441M|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000262317.4_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	441						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GGACGCCCACGTGCTGCCCCC	0.711													G|||	1	0.000199681	8e-04	0	5008	,	,		14952	0		0	False		,,,				2504	0					ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(1321-1323)Gtg>Atg		Crm, cramped-like (Drosophila)							10	14	13					16																	1706079		1969	4121	6090	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1706079G>A	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.1321G>A	16.37:g.1706079G>A	ENSP00000380559:p.Val441Met					CRAMP1L_ENST00000262317.4_Intron|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.V438M|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.V441M	p.V441M			Q96RY5	CRML_HUMAN			10	1420	+			441					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.1321G>A	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	G	4.633	0.117672	0.08881	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	5.02	-10.0	0.00425	.	1.258540	0.05485	N	0.555545	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	P	0.44344	0.833	B	0.27500	0.08	T	0.39461	-0.9613	9	0.59425	D	0.04	-0.0329	0.4283	0.00467	0.2126:0.2129:0.1595:0.415	.	441	Q96RY5	CRML_HUMAN	M	441;441;438	.	ENSP00000293925:V441M	V	+	1	0	CRAMP1L	1646080	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.013000	0.03645	-2.195000	0.00752	-0.274000	0.10170	GTG		0.711	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			4	6	0	0	0	1	0	4	6					A	1706079	G	A	1706079	3	1	435	1	0	0	0	0	1	0	0	0	3846	1145	40	1	1355	1	CRAMP1L	16	1706079	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	71814	1706079	88648674	6730	27655											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1793343	1793343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatttcagcaggaaggagCgccccacctccctgaacgtg	9	6	10	16	2	1	1	1	1	0	0	2	3	2	3	5	2	3	1	5	2	2	1	rs183206340		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1793343C>T	ENST00000250894.4	+	5	767	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R204C	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	204					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CAGGAAGGAGCGCCCCACCTC	0.642																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(610-612)Cgc>Tgc		mitogen-activated protein kinase 8 interacting protein 3							41	45	44					16																	1793343		2052	4173	6225	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1793343C>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.610C>T	16.37:g.1793343C>T	ENSP00000250894:p.Arg204Cys					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R204C	p.R204C	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			5	767	+			204					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.610C>T	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107952	0.77096	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.37058	1.22;1.22	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.60495	0.2273	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.972;0.951;0.997;0.95	T	0.63497	-0.6624	10	0.66056	D	0.02	-27.3315	18.2866	0.90115	0.0:1.0:0.0:0.0	.	205;204;204;204	B7ZMF3;E9PFH7;Q9UPT6;Q9UPT6-2	.;.;JIP3_HUMAN;.	C	204	ENSP00000250894:R204C;ENSP00000348290:R204C	ENSP00000250894:R204C	R	+	1	0	MAPK8IP3	1733344	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.663000	0.83820	2.408000	0.81797	0.643000	0.83706	CGC		0.642	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		17	20	0	0	0	1	0	17	20					T	1793343	C	T	1793343	3	4	435	1	0	0	0	0	1	0	0	0	9286	768	27	1	628	1	MAPK8IP3	16	1793343	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	87264	1793343	88561410	6731	27656											
EME2	197342	broad.mit.edu	37	chr16	1825080	1825080	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgccctggatctccccCgagaccaccgcccggcccca	5	5	11	20	3	1	1	0	0	1	1	2	3	1	2	8	3	1	0	8	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1825080C>T	ENST00000568449.1	+	4	537	c.516C>T	c.(514-516)ccC>ccT	p.P172P	EME2_ENST00000307394.7_Silent_p.P172P|MRPS34_ENST00000397375.2_5'Flank|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	172					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GGATCTCCCCCGAGACCACCG	0.652								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(514-516)ccC>ccT	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2							82	93	89					16																	1825080		2199	4298	6497	SO:0001819	synonymous_variant	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1825080C>T	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.516C>T	16.37:g.1825080C>T						EME2_ENST00000568449.1_Silent_p.P172P	p.P172P			A4GXA9	EME2_HUMAN			4	516	+			172					Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	c.516C>T	CCDS58404.1																																																																																				0.652	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		32	104	0	0	0	1	0	32	104					T	1825080	C	T	1825080	2	4	435	1	0	0	0	0	0	0	0	1	5089	639	23	2		2	EME2	16	1825080	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31737	1825080	88529673	6732	27657											
IGFALS	3483	broad.mit.edu	37	chr16	1841078	1841078	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaggcggtggggcaggtgCgtgagctggttggaggtcag	7	7	22	5	2	1	2	1	1	0	1	1	3	1	3	0	8	2	3	0	8	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1841078C>T	ENST00000215539.3	-	2	1451	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	IGFALS_ENST00000415638.3_Silent_p.T485T			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	447					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GGGGCAGGTGCGTGAGCTGGT	0.692																																						ENST00000415638.3																			0				endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						c.(1453-1455)acG>acA		insulin-like growth factor binding protein, acid labile subunit							16	18	17					16																	1841078		2180	4274	6454	SO:0001819	synonymous_variant	3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1841078C>T	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.1341G>A	16.37:g.1841078C>T						IGFALS_ENST00000215539.3_Silent_p.T447T	p.T485T	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN			2	1534	-			447					B4DZY8|E9PGU3	Silent	SNP	ENST00000215539.3	37	c.1455G>A	CCDS10446.1																																																																																				0.692	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			7	19	0	0	0	1	0	7	19					T	1841078	C	T	1841078	2	4	435	1	0	0	0	0	0	0	0	1	7577	755	27	1		1	IGFALS	16	1841078	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15998	1841078	88513675	6733	27658											
IGFALS	3483	broad.mit.edu	37	chr16	1842413	1842413	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggcctcctgcggggggAgaggcttggggaggcggccc	4	4	21	12	2	0	1	0	0	0	1	1	3	1	2	4	9	1	1	4	9	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1842413A>G	ENST00000215539.3	-	2	127				IGFALS_ENST00000415638.3_Silent_p.S40S|IGFALS_ENST00000568221.1_Intron			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CTGCGGGGGGAGAGGCTTGGG	0.721																																						ENST00000415638.3																			0				endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						c.(118-120)tcT>tcC		insulin-like growth factor binding protein, acid labile subunit							5	7	6					16																	1842413		1732	3694	5426	SO:0001627	intron_variant	3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1842413A>G	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.17-11T>C	16.37:g.1842413A>G						IGFALS_ENST00000568221.1_Intron|IGFALS_ENST00000215539.3_Intron	p.S40S	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN			2	199	-			0			LRRNT.		B4DZY8|E9PGU3	Silent	SNP	ENST00000215539.3	37	c.120T>C	CCDS10446.1																																																																																				0.721	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			14	12	0	0	0	1	0	14	12					G	1842413	A	G	1842413	1	3	435	0	1	0	0	0	0	0	0	0	7577	291	11	4		4	IGFALS	16	1842413	Intron	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1335	1842413	88512340	6734	27659											
HAGH	3029	broad.mit.edu	37	chr16	1873023	1873023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatctgtgtggcagaaaactCccagcagggctggacctgca	11	7	12	11	0	1	1	0	0	1	1	2	2	2	2	2	3	3	4	2	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1873023C>T	ENST00000397356.3	-	2	498	c.92G>A	c.(91-93)gGa>gAa	p.G31E	HAGH_ENST00000455446.2_Missense_Mutation_p.G31E|HAGH_ENST00000566709.1_5'UTR|HAGH_ENST00000397353.2_5'UTR	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	31					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	GCAGAAAACTCCCAGCAGGGC	0.612																																					Pancreas(55;1048 1176 25227 40124 41333)	ENST00000397356.3																			0				kidney(2)|lung(1)|ovary(1)|skin(1)	5						c.(91-93)gGa>gAa		hydroxyacylglutathione hydrolase	Glutathione(DB00143)						100	102	101					16																	1873023		2199	4300	6499	SO:0001583	missense	3029				glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr16:1873023C>T	X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"hydroxyacyl glutathione hydrolase"			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.92G>A	16.37:g.1873023C>T	ENSP00000380514:p.Gly31Glu					HAGH_ENST00000397353.2_5'UTR|HAGH_ENST00000566709.1_5'UTR|HAGH_ENST00000455446.2_Missense_Mutation_p.G31E	p.G31E	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN			2	498	-		Hepatocellular(780;0.00335)	31					A8K290|B4DP33|B4DRA7|E7EN93	Missense_Mutation	SNP	ENST00000397356.3	37	c.92G>A	CCDS10447.2	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812402	0.32053	.	.	ENSG00000063854	ENST00000455446;ENST00000397356	D	0.95656	-3.77	5.45	5.45	0.79879	.	1.002150	0.08046	U	0.995852	D	0.92512	0.7622	N	0.19112	0.55	0.80722	D	1	D;D;P	0.53619	0.961;0.961;0.808	P;P;B	0.44597	0.454;0.454;0.274	D	0.86949	0.2084	10	0.25106	T	0.35	5.1035	16.7961	0.85602	0.0:1.0:0.0:0.0	.	31;31;31	E7EN93;B4DT01;Q16775	.;.;GLO2_HUMAN	E	31	ENSP00000380514:G31E	ENSP00000380514:G31E	G	-	2	0	HAGH	1813024	0.956000	0.32656	0.963000	0.40424	0.169000	0.22640	2.209000	0.42806	2.732000	0.93576	0.650000	0.86243	GGA		0.612	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	NM_005326		27	27	0	0	0	1	0	27	27					T	1873023	C	T	1873023	3	4	435	1	0	0	0	0	1	0	0	0	6945	855	30	3	866	3	HAGH	16	1873023	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30610	1873023	88481730	6735	27660											
SYNGR3	9143	broad.mit.edu	37	chr16	2042693	2042693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaccaatcagtggcagCgcacggcgccagggccggcc	7	4	13	17	4	2	0	2	0	0	0	3	0	3	0	5	4	1	2	5	4	1	0	rs575680811		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2042693C>T	ENST00000248121.2	+	3	552	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	SYNGR3_ENST00000562045.1_Silent_p.S43S	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	132	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				positive regulation of transporter activity (GO:0032411)|substantia nigra development (GO:0021762)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|synaptic vesicle (GO:0008021)				endometrium(1)|lung(2)	3						TCAGTGGCAGCGCACGGCGCC	0.706																																						ENST00000248121.2																			0				endometrium(1)|lung(2)	3						c.(394-396)Cgc>Tgc		synaptogyrin 3							27	25	25					16																	2042693		2193	4294	6487	SO:0001583	missense	9143				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle		g.chr16:2042693C>T	AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561			11501	protein-coding gene	gene with protein product		603927				9760194	Standard	NM_004209		Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.394C>T	16.37:g.2042693C>T	ENSP00000248121:p.Arg132Cys					SYNGR3_ENST00000562045.1_Silent_p.S43S	p.R132C	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN			3	552	+			132			MARVEL.		B2R9S0	Missense_Mutation	SNP	ENST00000248121.2	37	c.394C>T	CCDS10456.1	.	.	.	.	.	.	.	.	.	.	c	14.85	2.658287	0.47467	.	.	ENSG00000127561	ENST00000248121	T	0.26067	1.76	3.91	2.93	0.34026	Marvel (1);MARVEL-like domain (1);	0.298226	0.30302	N	0.009921	T	0.37865	0.1019	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	P	0.60609	0.877	T	0.09840	-1.0656	10	0.52906	T	0.07	.	7.6721	0.28465	0.3088:0.5358:0.1554:0.0	.	132	O43761	SNG3_HUMAN	C	132	ENSP00000248121:R132C	ENSP00000248121:R132C	R	+	1	0	SYNGR3	1982694	0.998000	0.40836	0.997000	0.53966	0.882000	0.50991	1.050000	0.30404	0.834000	0.34852	0.306000	0.20318	CGC		0.706	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1			7	12	0	0	0	1	0	7	12					T	2042693	C	T	2042693	3	4	435	1	0	0	0	0	1	0	0	0	15447	768	27	1	404	1	SYNGR3	16	2042693	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	169670	2042693	88312060	6736	27661											
ZNF598	90850	broad.mit.edu	37	chr16	2048469	2048469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccgtgtgtgcagacaggaGctcctgctgcttggccgtgt	4	11	15	11	2	0	1	0	0	0	1	2	2	2	2	3	2	4	4	3	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2048469G>A	ENST00000563630.1	-	12	2556	c.2314C>T	c.(2314-2316)Ctc>Ttc	p.L772F	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Missense_Mutation_p.L772F|ZNF598_ENST00000431526.1_Missense_Mutation_p.L827F			Q86UK7	ZN598_HUMAN	zinc finger protein 598	827							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GCAGACAGGAGCTCCTGCTGC	0.587																																						ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(2314-2316)Ctc>Ttc		zinc finger protein 598							34	38	37					16																	2048469		1921	4131	6052	SO:0001583	missense	90850					intracellular	zinc ion binding	g.chr16:2048469G>A	BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.2314C>T	16.37:g.2048469G>A	ENSP00000455882:p.Leu772Phe					ZNF598_ENST00000431526.1_Missense_Mutation_p.L827F|ZNF598_ENST00000562103.1_Missense_Mutation_p.L772F	p.L772F			Q86UK7	ZN598_HUMAN			12	2556	-			827					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37	c.2314C>T		.	.	.	.	.	.	.	.	.	.	.	19.99	3.929186	0.73327	.	.	ENSG00000167962	ENST00000431526	T	0.56103	0.48	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.77883	0.4197	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83314	-0.0021	10	0.87932	D	0	-16.8598	16.936	0.86203	0.0:0.0:1.0:0.0	.	827;819	Q86UK7;Q86UK7-2	ZN598_HUMAN;.	F	827	ENSP00000411409:L827F	ENSP00000411409:L827F	L	-	1	0	ZNF598	1988470	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	8.979000	0.93455	2.472000	0.83506	0.462000	0.41574	CTC		0.587	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		25	32	0	0	0	1	0	25	32					A	2048469	G	A	2048469	3	1	435	1	0	0	0	0	1	0	0	0	18025	971	34	3	239	3	ZNF598	16	2048469	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5776	2048469	88306284	6737	27662											
ZNF598	90850	broad.mit.edu	37	chr16	2049773	2049773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcttctccgagcccaCtttcttcttcttcccaactt	4	15	5	17	1	4	0	0	0	4	0	6	1	5	0	4	1	2	1	4	1	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2049773C>T	ENST00000563630.1	-	9	1854	c.1612G>A	c.(1612-1614)Gtg>Atg	p.V538M	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Missense_Mutation_p.V538M|ZNF598_ENST00000431526.1_Missense_Mutation_p.V593M			Q86UK7	ZN598_HUMAN	zinc finger protein 598	593							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TCCGAGCCCACTTTCTTCTTC	0.657																																						ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(1612-1614)Gtg>Atg		zinc finger protein 598							18	22	20					16																	2049773		1941	4136	6077	SO:0001583	missense	90850					intracellular	zinc ion binding	g.chr16:2049773C>T	BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1612G>A	16.37:g.2049773C>T	ENSP00000455882:p.Val538Met					ZNF598_ENST00000431526.1_Missense_Mutation_p.V593M|ZNF598_ENST00000562103.1_Missense_Mutation_p.V538M	p.V538M			Q86UK7	ZN598_HUMAN			9	1854	-			593					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37	c.1612G>A		.	.	.	.	.	.	.	.	.	.	.	2.583	-0.296904	0.05532	.	.	ENSG00000167962	ENST00000431526	T	0.18502	2.21	4.69	2.54	0.30619	.	0.555410	0.19720	N	0.107613	T	0.14700	0.0355	L	0.55103	1.725	0.30356	N	0.784293	B	0.24823	0.112	B	0.19946	0.027	T	0.06734	-1.0810	10	0.33940	T	0.23	-18.3486	7.3652	0.26768	0.0:0.7276:0.0:0.2724	.	593	Q86UK7	ZN598_HUMAN	M	593	ENSP00000411409:V593M	ENSP00000411409:V593M	V	-	1	0	ZNF598	1989774	0.056000	0.20664	1.000000	0.80357	0.273000	0.26683	-0.370000	0.07523	1.172000	0.42781	0.650000	0.86243	GTG		0.657	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		9	19	0	0	0	1	0	9	19					T	2049773	C	T	2049773	3	4	435	1	0	0	0	0	1	0	0	0	18025	565	20	3	953	3	ZNF598	16	2049773	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1304	2049773	88304980	6738	27663											
ZNF598	90850	broad.mit.edu	37	chr16	2049981	2049981	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccgctgccggtagcctgCgccgagagtgggggctgtgc	3	7	19	12	4	0	1	0	0	0	1	0	2	0	1	4	4	4	3	4	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2049981C>T	ENST00000563630.1	-	9	1646	c.1404G>A	c.(1402-1404)gcG>gcA	p.A468A	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Silent_p.A468A|ZNF598_ENST00000431526.1_Silent_p.A523A			Q86UK7	ZN598_HUMAN	zinc finger protein 598	523							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CGGTAGCCTGCGCCGAGAGTG	0.692																																						ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(1402-1404)gcG>gcA		zinc finger protein 598							6	8	7					16																	2049981		1936	4049	5985	SO:0001819	synonymous_variant	90850					intracellular	zinc ion binding	g.chr16:2049981C>T	BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1404G>A	16.37:g.2049981C>T						ZNF598_ENST00000431526.1_Silent_p.A523A|ZNF598_ENST00000562103.1_Silent_p.A468A	p.A468A			Q86UK7	ZN598_HUMAN			9	1646	-			523					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37	c.1404G>A																																																																																					0.692	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		3	3	0	0	0	1	0	3	3					T	2049981	C	T	2049981	2	4	435	1	0	0	0	0	0	0	0	1	18025	755	27	1		1	ZNF598	16	2049981	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	208	2049981	88304772	6739	27664											
ZNF598	90850	broad.mit.edu	37	chr16	2050146	2050146	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagggatggcgtacggcagCgccaaccccacagggcccgg	8	2	16	15	4	0	0	0	0	0	0	0	1	0	1	4	5	3	3	4	5	2	1	rs554344000		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2050146C>T	ENST00000563630.1	-	9	1481	c.1239G>A	c.(1237-1239)gcG>gcA	p.A413A	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Silent_p.A413A|ZNF598_ENST00000431526.1_Silent_p.A468A			Q86UK7	ZN598_HUMAN	zinc finger protein 598	468							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CGTACGGCAGCGCCAACCCCA	0.682													C|||	1	0.000199681	0	0	5008	,	,		16250	0		0	False		,,,				2504	0.001					ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(1237-1239)gcG>gcA		zinc finger protein 598							21	25	24					16																	2050146		1912	4022	5934	SO:0001819	synonymous_variant	90850					intracellular	zinc ion binding	g.chr16:2050146C>T	BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1239G>A	16.37:g.2050146C>T						ZNF598_ENST00000431526.1_Silent_p.A468A|ZNF598_ENST00000562103.1_Silent_p.A413A	p.A413A			Q86UK7	ZN598_HUMAN			9	1481	-			468					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37	c.1239G>A																																																																																					0.682	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		16	25	0	0	0	1	0	16	25					T	2050146	C	T	2050146	2	4	435	1	0	0	0	0	0	0	0	1	18025	755	27	1		1	ZNF598	16	2050146	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	165	2050146	88304607	6740	27665											
ZNF598	90850	broad.mit.edu	37	chr16	2051609	2051609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacctccagcttcctcggcGgctctgctgggctccgcgag	3	9	13	16	4	1	0	0	0	1	0	5	1	4	0	4	3	3	5	4	3	1	2	rs370369920		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2051609G>A	ENST00000563630.1	-	6	1065	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	ZNF598_ENST00000562103.1_Missense_Mutation_p.R275C|ZNF598_ENST00000431526.1_Missense_Mutation_p.R330C			Q86UK7	ZN598_HUMAN	zinc finger protein 598	330							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CTTCCTCGGCGGCTCTGCTGG	0.682													G|||	1	0.000199681	8e-04	0	5008	,	,		15770	0		0	False		,,,				2504	0					ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(823-825)Cgc>Tgc		zinc finger protein 598		G	CYS/ARG	1,4237		0,1,2118	34	43	40		990	5.4	1	16		40	0,8466		0,0,4233	no	missense	ZNF598	NM_178167.2	180	0,1,6351	AA,AG,GG		0.0,0.0236,0.0079	probably-damaging	330/905	2051609	1,12703	2119	4233	6352	SO:0001583	missense	90850					intracellular	zinc ion binding	g.chr16:2051609G>A	BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.823C>T	16.37:g.2051609G>A	ENSP00000455882:p.Arg275Cys					ZNF598_ENST00000431526.1_Missense_Mutation_p.R330C|ZNF598_ENST00000562103.1_Missense_Mutation_p.R275C	p.R275C			Q86UK7	ZN598_HUMAN			6	1065	-			330					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37	c.823C>T		.	.	.	.	.	.	.	.	.	.	.	20.4	3.988281	0.74589	2.36E-4	0.0	ENSG00000167962	ENST00000431526	T	0.15017	2.46	5.41	5.41	0.78517	.	0.125602	0.47455	D	0.000240	T	0.30572	0.0769	L	0.36672	1.1	0.51482	D	0.999924	D	0.89917	1.0	D	0.77004	0.989	T	0.01520	-1.1334	10	0.72032	D	0.01	-39.5462	11.9244	0.52810	0.0:0.0:0.7237:0.2763	.	330	Q86UK7	ZN598_HUMAN	C	330	ENSP00000411409:R330C	ENSP00000411409:R330C	R	-	1	0	ZNF598	1991610	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.934000	0.48956	2.531000	0.85337	0.655000	0.94253	CGC		0.682	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		3	14	0	0	0	1	0	3	14					A	2051609	G	A	2051609	3	1	435	1	0	0	0	0	1	0	0	0	18025	1116	39	2	1754	2	ZNF598	16	2051609	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1463	2051609	88303144	6741	27666											
NTHL1	7249	broad.mit.edu	37	chr16	2096314	2096314	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagccctcataggccacacGcagtctctgtgctttccgcg	6	9	10	16	4	2	0	1	0	1	0	4	1	3	0	3	1	2	2	3	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2096314G>A	ENST00000219476.3	+	0	0				NTHL1_ENST00000219066.1_Missense_Mutation_p.R65C|TSC2_ENST00000439673.2_5'Flank|TSC2_ENST00000350773.4_5'Flank|TSC2_ENST00000382538.6_5'Flank|TSC2_ENST00000353929.4_5'Flank|TSC2_ENST00000401874.2_5'Flank|NTHL1_ENST00000562951.1_5'Flank|TSC2_ENST00000568454.1_5'Flank	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			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)				TAGGCCACACGCAGTCTCTGT	0.622			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219066.1			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249		tuberous sclerosis 2 gene			"E, O"					0				lung(1)	1						c.(193-195)Cgt>Tgt	Base excision repair (BER), DNA glycosylases	nth endonuclease III-like 1 (E. coli)							90	90	90					16																	2096314		2198	4300	6498	SO:0001631	upstream_gene_variant	4913		Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	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	g.chr16:2096314G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2096314G>A	Exception_encountered						p.R65C	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN			2	211	-			65					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.193C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	9.507	1.104818	0.20632	.	.	ENSG00000065057	ENST00000219066	T	0.15017	2.46	4.83	-3.91	0.04168	.	1.371960	0.04747	N	0.423898	T	0.05502	0.0145	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.31447	-0.9943	10	0.52906	T	0.07	2.3349	1.731	0.02931	0.2845:0.1055:0.3926:0.2175	.	65;65	E5KTI5;P78549	.;NTHL1_HUMAN	C	65	ENSP00000219066:R65C	ENSP00000219066:R65C	R	-	1	0	NTHL1	2036315	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-0.580000	0.05827	-0.571000	0.06014	-1.149000	0.01842	CGT		0.622	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		27	50	0	0	0	1	0	27	50					A	2096314	G	A	2096314	1	1	435	0	1	0	0	0	0	0	0	0	10698	1087	38	1		1	NTHL1	16	2096314	5'Flank	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44705	2096314	88258439	6742	27667											
TSC2	7249	broad.mit.edu	37	chr16	2110816	2110816	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccttcagcagctccaggTggggtgggggcaggagctcc	5	7	17	12	0	1	0	1	0	0	0	4	1	4	1	3	6	3	5	3	6	0	1	rs137854173		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2110816T>C	ENST00000219476.3	+	11	1749		c.e11+2		TSC2_ENST00000439673.2_Splice_Site|TSC2_ENST00000382538.6_Splice_Site|TSC2_ENST00000568454.1_Splice_Site|TSC2_ENST00000350773.4_Splice_Site|TSC2_ENST00000353929.4_Splice_Site|TSC2_ENST00000401874.2_Splice_Site	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			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)				CAGCTCCAGGTGGGGTGGGGG	0.627			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				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						c.e11+2		tuberous sclerosis 2							51	46	48					16																	2110816		2198	4300	6498	SO:0001630	splice_region_variant	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	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	g.chr16:2110816T>C	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1119+2T>C	16.37:g.2110816T>C						TSC2_ENST00000353929.4_Splice_Site|TSC2_ENST00000350773.4_Splice_Site|TSC2_ENST00000568454.1_Splice_Site|TSC2_ENST00000439673.2_Splice_Site|TSC2_ENST00000382538.6_Splice_Site|TSC2_ENST00000401874.2_Splice_Site		NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			11	1749	+		Hepatocellular(780;0.0202)						A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Splice_Site	SNP	ENST00000219476.3	37		CCDS10458.1	.	.	.	.	.	.	.	.	.	.	.	11.10	1.540409	0.27563	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	.	.	.	4.6	3.5	0.40072	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9837	0.41828	0.0:0.0811:0.0:0.9189	.	.	.	.	.	-1	.	.	.	+	.	.	TSC2	2050817	1.000000	0.71417	0.916000	0.36221	0.627000	0.37826	6.151000	0.71806	0.726000	0.32339	0.459000	0.35465	.		0.627	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	Intron	9	15	0	0	0	1	0	9	15					C	2110816	T	C	2110816	5	2	435	1	0	0	0	0	0	0	1	0	16603	1710	59	4	1159	4	TSC2	16	2110816	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	14502	2110816	88243937	6743	27668											
TSC2	7249	broad.mit.edu	37	chr16	2120463	2120463	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctctctctgcagaccaagCtgtacaccctgcctgcaagc	8	9	7	17	0	2	1	0	0	2	1	4	1	3	1	4	0	6	4	4	0	3	1	rs137854119		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2120463C>A	ENST00000219476.3	+	17	2353	c.1723C>A	c.(1723-1725)Ctg>Atg	p.L575M	TSC2_ENST00000439673.2_Missense_Mutation_p.L538M|TSC2_ENST00000382538.6_Missense_Mutation_p.L526M|TSC2_ENST00000568454.1_Missense_Mutation_p.L586M|TSC2_ENST00000350773.4_Missense_Mutation_p.L575M|TSC2_ENST00000353929.4_Missense_Mutation_p.L575M|TSC2_ENST00000401874.2_Missense_Mutation_p.L575M	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	575					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			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)				GCAGACCAAGCTGTACACCCT	0.622			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				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						c.(1723-1725)Ctg>Atg		tuberous sclerosis 2							95	69	78					16																	2120463		2198	4299	6497	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	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	g.chr16:2120463C>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1723C>A	16.37:g.2120463C>A	ENSP00000219476:p.Leu575Met					TSC2_ENST00000353929.4_Missense_Mutation_p.L575M|TSC2_ENST00000350773.4_Missense_Mutation_p.L575M|TSC2_ENST00000568454.1_Missense_Mutation_p.L586M|TSC2_ENST00000439673.2_Missense_Mutation_p.L538M|TSC2_ENST00000382538.6_Missense_Mutation_p.L526M|TSC2_ENST00000401874.2_Missense_Mutation_p.L575M	p.L575M	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			17	2353	+		Hepatocellular(780;0.0202)	575					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.1723C>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333207	0.81801	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	5.51	5.51	0.81932	Tuberin-type domain (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.95159	0.8431	L	0.53561	1.675	0.80722	D	1	D;D;P;D;D;D	0.76494	0.969;0.999;0.925;0.999;0.986;0.999	P;D;P;D;P;D	0.91635	0.897;0.983;0.661;0.999;0.849;0.997	D	0.94707	0.7888	10	0.49607	T	0.09	-19.5401	19.4153	0.94694	0.0:1.0:0.0:0.0	.	526;538;575;575;575;575	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	M	575;575;575;538;526;575	ENSP00000219476:L575M;ENSP00000384468:L575M;ENSP00000248099:L575M;ENSP00000399232:L538M;ENSP00000371978:L526M;ENSP00000344383:L575M	ENSP00000219476:L575M	L	+	1	2	TSC2	2060464	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.010000	0.70753	2.595000	0.87683	0.561000	0.74099	CTG		0.622	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		12	22	1	0	5.50884e-06	1	5.70893e-06	12	22					A	2120463	C	A	2120463	3	1	435	1	0	0	0	0	1	0	0	0	16603	796	28	5	1785	5	TSC2	16	2120463	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9647	2120463	88234290	6744	27669											
TSC2	7249	broad.mit.edu	37	chr16	2133780	2133780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttggaggacgttgaggcagCgctaggcatggacaggcgca	9	6	18	8	3	0	1	0	1	0	0	0	4	0	4	0	6	1	6	0	6	1	3	rs397515062		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2133780C>T	ENST00000219476.3	+	33	4598	c.3968C>T	c.(3967-3969)gCg>gTg	p.A1323V	TSC2_ENST00000439673.2_Missense_Mutation_p.A1220V|TSC2_ENST00000382538.6_Missense_Mutation_p.A1208V|TSC2_ENST00000568454.1_Missense_Mutation_p.A1267V|TSC2_ENST00000350773.4_Missense_Mutation_p.A1300V|TSC2_ENST00000353929.4_Missense_Mutation_p.A1280V|TSC2_ENST00000401874.2_Missense_Mutation_p.A1256V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1323					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			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)				GTTGAGGCAGCGCTAGGCATG	0.667			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				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						c.(3967-3969)gCg>gTg		tuberous sclerosis 2							84	65	71					16																	2133780		2190	4293	6483	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	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	g.chr16:2133780C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3968C>T	16.37:g.2133780C>T	ENSP00000219476:p.Ala1323Val					TSC2_ENST00000353929.4_Missense_Mutation_p.A1280V|TSC2_ENST00000350773.4_Missense_Mutation_p.A1300V|TSC2_ENST00000568454.1_Missense_Mutation_p.A1267V|TSC2_ENST00000439673.2_Missense_Mutation_p.A1220V|TSC2_ENST00000382538.6_Missense_Mutation_p.A1208V|TSC2_ENST00000401874.2_Missense_Mutation_p.A1256V	p.A1323V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			33	4598	+		Hepatocellular(780;0.0202)	1323					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.3968C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711040	0.30322	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.88975	-2.31;-2.28;-2.45;-2.41;-2.37	4.08	4.08	0.47627	.	0.527164	0.18206	N	0.148331	T	0.69142	0.3078	N	0.04508	-0.205	0.09310	N	1	B;B;B;D;B;B;P	0.54964	0.007;0.013;0.003;0.969;0.013;0.013;0.555	B;B;B;B;B;B;B	0.33454	0.004;0.01;0.003;0.164;0.01;0.01;0.045	T	0.63143	-0.6703	10	0.26408	T	0.33	-1.8134	9.4885	0.38944	0.0:0.9004:0.0:0.0996	.	1208;1220;1300;98;1279;1256;1323	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	V	1323;1257;1280;1220;1208;1300	ENSP00000219476:A1323V;ENSP00000248099:A1280V;ENSP00000399232:A1220V;ENSP00000371978:A1208V;ENSP00000344383:A1300V	ENSP00000219476:A1323V	A	+	2	0	TSC2	2073781	0.002000	0.14202	0.013000	0.15412	0.010000	0.07245	1.110000	0.31147	1.986000	0.57962	0.462000	0.41574	GCG		0.667	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		3	7	0	0	0	1	0	3	7					T	2133780	C	T	2133780	3	4	435	1	0	0	0	0	1	0	0	0	16603	768	27	1	4094	1	TSC2	16	2133780	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13317	2133780	88220973	6745	27670											
PKD1	5310	broad.mit.edu	37	chr16	2153765	2153765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgttgagcacgcgggagcGcatgaggatgcgcatgaggg	8	6	18	9	5	0	3	0	3	0	0	1	5	0	5	0	3	3	4	0	3	0	1	rs144979397	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2153765G>A	ENST00000262304.4	-	23	8501	c.8293C>T	c.(8293-8295)Cgc>Tgc	p.R2765C	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.R2765C	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2765	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		R -> C (in dbSNP:rs144979397). {ECO:0000269|PubMed:11115377, ECO:0000269|PubMed:11857740}.|R -> RILMR (in PKD1).		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACGCGGGAGCGCATGAGGATG	0.692													g|||	10	0.00199681	0	0.0058	5008	,	,		10724	0		0.006	False		,,,				2504	0					ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(8293-8295)Cgc>Tgc		polycystic kidney disease 1 (autosomal dominant)		G	CYS/ARG,CYS/ARG	12,4340		0,12,2164	24	25	25		8293,8293	3.9	1	16	dbSNP_134	25	63,8493		0,63,4215	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	180,180	0,75,6379	AA,AG,GG		0.7363,0.2757,0.581	probably-damaging,probably-damaging	2765/4303,2765/4304	2153765	75,12833	2176	4278	6454	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2153765G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8293C>T	16.37:g.2153765G>A	ENSP00000262304:p.Arg2765Cys					PKD1_ENST00000423118.1_Missense_Mutation_p.R2765C|PKD1_ENST00000561991.1_5'UTR	p.R2765C	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			23	8501	-			2765		R -> C.|R -> RILMR (in ADPKD1).	REJ.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.8293C>T	CCDS32369.1	10	0.004578754578754579	0	0.0	0	0.0	0	0.0	10	0.013192612137203167	G	21.7	4.190255	0.78789	0.002757	0.007363	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.38401	1.14;1.14	4.89	3.88	0.44766	Egg jelly receptor, REJ-like (1);	0.315268	0.32785	N	0.005656	T	0.40171	0.1106	L	0.56769	1.78	0.43107	D	0.994805	D;D	0.76494	0.999;0.998	P;P	0.59703	0.862;0.719	T	0.41233	-0.9520	10	0.56958	D	0.05	.	10.5734	0.45212	0.0:0.0:0.618:0.382	.	2765;2765	P98161-3;P98161	.;PKD1_HUMAN	C	2765;2765;2100;1044	ENSP00000262304:R2765C;ENSP00000399501:R2765C	ENSP00000262304:R2765C	R	-	1	0	PKD1	2093766	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.491000	0.66887	2.535000	0.85469	0.555000	0.69702	CGC		0.692	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			15	21	0	0	0	1	0	15	21					A	2153765	G	A	2153765	3	1	435	1	0	0	0	0	1	0	0	0	11963	1087	38	1	4714	1	PKD1	16	2153765	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19985	2153765	88200988	6746	27671											
PKD1	5310	broad.mit.edu	37	chr16	2160656	2160656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccctcgagccacccaccGtcccccagatcccacaggta	9	4	8	20	2	0	1	0	0	0	1	3	3	2	2	7	2	1	1	7	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2160656G>A	ENST00000262304.4	-	15	4720	c.4512C>T	c.(4510-4512)gaC>gaT	p.D1504D	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.D1504D	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1504	PKD 10. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCACCCACCGTCCCCCAGAT	0.657																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4510-4512)gaC>gaT		polycystic kidney disease 1 (autosomal dominant)							29	34	32					16																	2160656		2188	4289	6477	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160656G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4512C>T	16.37:g.2160656G>A						PKD1_ENST00000423118.1_Silent_p.D1504D	p.D1504D	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	4720	-			1504			PKD 10.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.4512C>T	CCDS32369.1																																																																																				0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			20	20	0	0	0	1	0	20	20					A	2160656	G	A	2160656	2	1	435	1	0	0	0	0	0	0	0	1	11963	1136	40	1		1	PKD1	16	2160656	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6891	2160656	88194097	6747	27672											
TRAF7	84231	broad.mit.edu	37	chr16	2223318	2223318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctggcccagaaggaccaGgagatcgccttcctgcgctc	7	7	12	15	2	1	2	0	0	1	2	4	4	2	3	4	3	1	2	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2223318G>T	ENST00000326181.6	+	10	1062	c.930G>T	c.(928-930)caG>caT	p.Q310H		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	310					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						AGAAGGACCAGGAGATCGCCT	0.612																																						ENST00000326181.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						c.(928-930)caG>caT		TNF receptor-associated factor 7, E3 ubiquitin protein ligase							80	67	72					16																	2223318		2198	4300	6498	SO:0001583	missense	84231				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	g.chr16:2223318G>T	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.930G>T	16.37:g.2223318G>T	ENSP00000318944:p.Gln310His						p.Q310H	NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN			10	1062	+			310					Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	c.930G>T	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.928090	0.34002	.	.	ENSG00000131653	ENST00000326181	T	0.24908	1.83	4.6	3.57	0.40892	TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	P	0.59703	0.862	T	0.03493	-1.1031	10	0.51188	T	0.08	-29.3821	12.1509	0.54050	0.0977:0.0:0.9023:0.0	.	310	Q6Q0C0	TRAF7_HUMAN	H	310	ENSP00000318944:Q310H	ENSP00000318944:Q310H	Q	+	3	2	TRAF7	2163319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.187000	0.50950	2.363000	0.80096	0.561000	0.74099	CAG		0.612	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		7	15	1	0	6.5536e-12	1	7.07361e-12	7	15					T	2223318	G	T	2223318	3	4	435	1	0	0	0	0	1	0	0	0	16443	991	35	5	964	5	TRAF7	16	2223318	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62662	2223318	88131435	6748	27673											
TRAF7	84231	broad.mit.edu	37	chr16	2225572	2225572	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaaccactgggtgcgggcCctggtggctgcccagagcta	6	7	14	14	1	1	1	1	0	0	1	1	1	1	1	3	4	4	2	3	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2225572C>T	ENST00000326181.6	+	17	1707	c.1575C>T	c.(1573-1575)gcC>gcT	p.A525A		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	525					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						GGGTGCGGGCCCTGGTGGCTG	0.622																																						ENST00000326181.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						c.(1573-1575)gcC>gcT		TNF receptor-associated factor 7, E3 ubiquitin protein ligase							64	65	65					16																	2225572		2198	4300	6498	SO:0001819	synonymous_variant	84231				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	g.chr16:2225572C>T	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1575C>T	16.37:g.2225572C>T							p.A525A	NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN			17	1707	+			525					Q9H073	Silent	SNP	ENST00000326181.6	37	c.1575C>T	CCDS10461.1																																																																																				0.622	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		16	28	0	0	0	1	0	16	28					T	2225572	C	T	2225572	2	4	435	1	0	0	0	0	0	0	0	1	16443	610	22	3		3	TRAF7	16	2225572	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2254	2225572	88129181	6749	27674											
CASKIN1	57524	broad.mit.edu	37	chr16	2228970	2228970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgccgcggccaggcacgCgcttgtctcctccagtttct	4	9	11	17	5	2	0	0	0	2	0	4	0	3	0	4	2	1	3	4	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2228970C>T	ENST00000343516.6	-	19	4224	c.4132G>A	c.(4132-4134)Gcg>Acg	p.A1378T	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1378					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCCAGGCACGCGCTTGTCTCC	0.816																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(4132-4134)Gcg>Acg		CASK interacting protein 1							4	4	4					16																	2228970		1211	2792	4003	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2228970C>T	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.4132G>A	16.37:g.2228970C>T	ENSP00000345436:p.Ala1378Thr						p.A1378T	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			19	4224	-			1378					Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.4132G>A	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	c	14.34	2.506384	0.44558	.	.	ENSG00000167971	ENST00000343516	T	0.68331	-0.32	3.29	3.29	0.37713	.	.	.	.	.	T	0.71904	0.3395	L	0.39020	1.185	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.69957	-0.5004	9	0.32370	T	0.25	-10.9918	13.7234	0.62743	0.0:1.0:0.0:0.0	.	1378	Q8WXD9	CSKI1_HUMAN	T	1378	ENSP00000345436:A1378T	ENSP00000345436:A1378T	A	-	1	0	CASKIN1	2168971	1.000000	0.71417	0.840000	0.33206	0.015000	0.08874	4.080000	0.57620	1.677000	0.50941	0.176000	0.17051	GCG		0.816	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		3	6	0	0	0	1	0	3	6					T	2228970	C	T	2228970	3	4	435	1	0	0	0	0	1	0	0	0	2666	768	27	1	171	1	CASKIN1	16	2228970	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3398	2228970	88125783	6750	27675											
MLST8	64223	broad.mit.edu	37	chr16	2257059	2257059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggaacctgcagtgccagcGgatcttccaggtgaacgcac	9	6	12	14	3	1	1	0	1	1	0	2	3	2	3	4	3	5	2	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2257059G>A	ENST00000569417.1	+	5	722	c.368G>A	c.(367-369)cGg>cAg	p.R123Q	MLST8_ENST00000301725.7_Missense_Mutation_p.R142Q|MLST8_ENST00000397124.1_Missense_Mutation_p.R123Q|MLST8_ENST00000565250.1_Missense_Mutation_p.R123Q|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000564088.1_Missense_Mutation_p.R123Q|MLST8_ENST00000301724.10_Missense_Mutation_p.R123Q|MLST8_ENST00000382450.4_Missense_Mutation_p.R122Q	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	123					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						CAGTGCCAGCGGATCTTCCAG	0.662																																						ENST00000569417.1																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(367-369)cGg>cAg		MTOR associated protein, LST8 homolog (S. cerevisiae)							54	60	58					16																	2257059		2006	4146	6152	SO:0001583	missense	64223				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	g.chr16:2257059G>A		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"WD repeat domain containing"	24825	protein-coding gene	gene with protein product	"G protein beta subunit like"	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.368G>A	16.37:g.2257059G>A	ENSP00000456405:p.Arg123Gln					MLST8_ENST00000397124.1_Missense_Mutation_p.R123Q|MLST8_ENST00000564088.1_Missense_Mutation_p.R123Q|MLST8_ENST00000382450.4_Missense_Mutation_p.R122Q|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000565250.1_Missense_Mutation_p.R123Q|MLST8_ENST00000301724.10_Missense_Mutation_p.R123Q|MLST8_ENST00000301725.7_Missense_Mutation_p.R142Q	p.R123Q	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN			5	722	+			123					B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	c.368G>A	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309252	0.81247	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124;ENST00000301725	T;T;T	0.59906	0.23;1.03;0.23	4.81	4.81	0.61882	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.054326	0.64402	D	0.000001	T	0.72495	0.3467	M	0.76002	2.32	0.58432	D	0.999995	P;P;D	0.56746	0.516;0.89;0.977	B;B;P	0.59595	0.059;0.358;0.86	T	0.75085	-0.3442	10	0.48119	T	0.1	-38.0089	16.4217	0.83760	0.0:0.0:1.0:0.0	.	142;57;123	Q9BVC4-4;Q9BVC4-3;Q9BVC4	.;.;LST8_HUMAN	Q	123;123;123;142	ENSP00000301724:R123Q;ENSP00000380313:R123Q;ENSP00000301725:R142Q	ENSP00000301724:R123Q	R	+	2	0	MLST8	2197060	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.659000	0.74412	2.205000	0.71048	0.462000	0.41574	CGG		0.662	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		13	64	0	0	0	1	0	13	64					A	2257059	G	A	2257059	3	1	435	1	0	0	0	0	1	0	0	0	9634	1116	39	2	382	2	MLST8	16	2257059	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28089	2257059	88097694	6751	27676											
E4F1	1877	broad.mit.edu	37	chr16	2284279	2284279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgccgcttccgctgtggcGactgcgggaagctctacaag	7	7	14	13	5	1	0	0	0	1	0	2	2	2	1	2	2	4	3	2	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2284279G>A	ENST00000301727.4	+	10	1531	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N	E4F1_ENST00000564139.1_Missense_Mutation_p.D495N|DNASE1L2_ENST00000320700.5_5'Flank|DNASE1L2_ENST00000564065.1_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000382437.4_5'Flank|DNASE1L2_ENST00000567494.1_5'Flank|E4F1_ENST00000565090.1_Intron	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	495	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						CCGCTGTGGCGACTGCGGGAA	0.657																																						ENST00000301727.4																			0				ovary(1)	1						c.(1483-1485)Gac>Aac		E4F transcription factor 1							59	62	61					16																	2284279		2196	4299	6495	SO:0001583	missense	1877				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	g.chr16:2284279G>A	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"Zinc fingers, C2H2-type"	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1483G>A	16.37:g.2284279G>A	ENSP00000301727:p.Asp495Asn					E4F1_ENST00000564139.1_Missense_Mutation_p.D495N|E4F1_ENST00000565090.1_Intron	p.D495N	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			10	1531	+			495			Interaction with BMI1.|Mediates interaction with CDKN2A.		A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	c.1483G>A	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582627	0.65992	.	.	ENSG00000167967	ENST00000301727	T	0.35973	1.28	5.11	5.11	0.69529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.046228	0.85682	D	0.000000	T	0.30823	0.0777	N	0.25060	0.705	0.41501	D	0.988287	D	0.53151	0.958	B	0.43680	0.427	T	0.17410	-1.0370	10	0.62326	D	0.03	-44.501	17.1139	0.86683	0.0:0.0:1.0:0.0	.	495	Q66K89	E4F1_HUMAN	N	495	ENSP00000301727:D495N	ENSP00000301727:D495N	D	+	1	0	E4F1	2224280	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.494000	0.66905	2.386000	0.81285	0.549000	0.68633	GAC		0.657	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		14	21	0	0	0	1	0	14	21					A	2284279	G	A	2284279	3	1	435	1	0	0	0	0	1	0	0	0	4874	1058	37	2	1521	2	E4F1	16	2284279	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27220	2284279	88070474	6752	27677											
E4F1	1877	broad.mit.edu	37	chr16	2285489	2285489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccatggtgtcatcagaGgacatcgagatcctggagca	11	8	13	9	1	2	3	2	1	0	2	4	6	3	5	2	3	1	1	2	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2285489G>T	ENST00000301727.4	+	14	2319	c.2271G>T	c.(2269-2271)gaG>gaT	p.E757D	E4F1_ENST00000564139.1_3'UTR|DNASE1L2_ENST00000320700.5_5'Flank|DNASE1L2_ENST00000564065.1_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000382437.4_5'Flank|DNASE1L2_ENST00000567494.1_5'Flank|E4F1_ENST00000565090.1_Missense_Mutation_p.E580D	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	757					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						TGTCATCAGAGGACATCGAGA	0.647																																						ENST00000301727.4																			0				ovary(1)	1						c.(2269-2271)gaG>gaT		E4F transcription factor 1							30	26	27					16																	2285489		2189	4298	6487	SO:0001583	missense	1877				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	g.chr16:2285489G>T	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"Zinc fingers, C2H2-type"	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.2271G>T	16.37:g.2285489G>T	ENSP00000301727:p.Glu757Asp					E4F1_ENST00000564139.1_3'UTR|E4F1_ENST00000565090.1_Missense_Mutation_p.E580D	p.E757D	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			14	2319	+			757					A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	c.2271G>T	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422234	0.43020	.	.	ENSG00000167967	ENST00000301727	T	0.35048	1.33	5.51	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.47935	-0.9078	10	0.87932	D	0	-30.6411	13.3731	0.60723	0.077:0.0:0.923:0.0	.	757	Q66K89	E4F1_HUMAN	D	757	ENSP00000301727:E757D	ENSP00000301727:E757D	E	+	3	2	E4F1	2225490	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.914000	0.56401	1.330000	0.45394	0.561000	0.74099	GAG		0.647	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		3	7	1	0	0.004672	1	0.00472505	3	7					T	2285489	G	T	2285489	3	4	435	1	0	0	0	0	1	0	0	0	4874	991	35	5	2325	5	E4F1	16	2285489	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1210	2285489	88069264	6753	27678											
ABCA3	21	broad.mit.edu	37	chr16	2329104	2329104	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagcaaggcatcaaactGcgggcagtagccgatccgct	10	6	12	13	3	1	0	1	0	0	0	3	1	3	0	3	2	4	5	3	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2329104G>A	ENST00000301732.5	-	29	5087	c.4387C>T	c.(4387-4389)Cag>Tag	p.Q1463*	ABCA3_ENST00000382381.3_Nonsense_Mutation_p.Q1405*	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1463	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GCATCAAACTGCGGGCAGTAG	0.677																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(4387-4389)Cag>Tag		ATP-binding cassette, sub-family A (ABC1), member 3							37	39	38					16																	2329104		2198	4298	6496	SO:0001587	stop_gained	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2329104G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4387C>T	16.37:g.2329104G>A	ENSP00000301732:p.Gln1463*					ABCA3_ENST00000382381.3_Nonsense_Mutation_p.Q1405*	p.Q1463*	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			29	5087	-		Ovarian(90;0.17)	1463			ABC transporter 2.		B2RU09|Q54A95|Q6P5P9|Q92473	Nonsense_Mutation	SNP	ENST00000301732.5	37	c.4387C>T	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862806	0.71949	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6492	0.88158	0.0:0.0:1.0:0.0	.	.	.	.	X	1463;1467	.	ENSP00000301732:Q1463X	Q	-	1	0	ABCA3	2269105	1.000000	0.71417	0.995000	0.50966	0.392000	0.30506	9.777000	0.99008	2.506000	0.84524	0.561000	0.74099	CAG		0.677	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		17	30	0	0	0	1	0	17	30					A	2329104	G	A	2329104	4	1	435	1	0	0	0	0	0	1	0	0	33	1328	46	3	747	3	ABCA3	16	2329104	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43615	2329104	88025649	6754	27679											
ABCA3	21	broad.mit.edu	37	chr16	2336723	2336723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtccttggcagcctgcaGggcgctccggggctggggga	3	7	19	12	2	0	0	0	0	0	0	2	1	2	1	3	7	2	4	3	7	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2336723G>T	ENST00000301732.5	-	22	3950	c.3250C>A	c.(3250-3252)Ctg>Atg	p.L1084M	ABCA3_ENST00000382381.3_Missense_Mutation_p.L1026M	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1084					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GCAGCCTGCAGGGCGCTCCGG	0.657																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(3250-3252)Ctg>Atg		ATP-binding cassette, sub-family A (ABC1), member 3							70	74	72					16																	2336723		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2336723G>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3250C>A	16.37:g.2336723G>T	ENSP00000301732:p.Leu1084Met					ABCA3_ENST00000382381.3_Missense_Mutation_p.L1026M	p.L1084M	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			22	3950	-		Ovarian(90;0.17)	1084					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.3250C>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458480	0.26248	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D;D	0.88277	-2.36;-2.34	4.24	3.2	0.36748	.	0.680491	0.13275	N	0.400244	T	0.80336	0.4604	N	0.16307	0.4	0.58432	D	0.999999	B;B	0.28258	0.205;0.005	B;B	0.32393	0.145;0.016	T	0.76329	-0.2999	10	0.39692	T	0.17	.	9.4432	0.38681	0.0:0.0:0.6417:0.3583	.	1088;1084	Q4LE27;Q99758	.;ABCA3_HUMAN	M	1084;1088	ENSP00000301732:L1084M;ENSP00000371818:L1088M	ENSP00000301732:L1084M	L	-	1	2	ABCA3	2276724	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	2.449000	0.44935	2.379000	0.81126	0.543000	0.68304	CTG		0.657	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		22	24	1	0	0.000229342	1	0.000234539	22	24					T	2336723	G	T	2336723	3	4	435	1	0	0	0	0	1	0	0	0	33	991	35	5	1912	5	ABCA3	16	2336723	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7619	2336723	88018030	6755	27680											
CCNF	899	broad.mit.edu	37	chr16	2498959	2498959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgggcgagatcgtctccGccttggaagggaagattcga	9	9	15	8	4	1	3	0	1	1	2	4	7	1	5	2	3	0	0	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2498959G>A	ENST00000397066.4	+	11	1286	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	400	Cyclin N-terminal.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GATCGTCTCCGCCTTGGAAGG	0.527																																						ENST00000397066.4																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(1198-1200)Gcc>Acc		cyclin F							99	86	90					16																	2498959		2198	4300	6498	SO:0001583	missense	899				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	g.chr16:2498959G>A	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1198G>A	16.37:g.2498959G>A	ENSP00000380256:p.Ala400Thr						p.A400T	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			11	1286	+		Ovarian(90;0.17)	400			Cyclin N-terminal.		B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.1198G>A	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331870	0.41297	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.09723	2.95	5.39	1.15	0.20763	Cyclin, N-terminal (1);Cyclin-like (2);	0.202131	0.52532	N	0.000073	T	0.05868	0.0153	N	0.13352	0.335	0.45515	D	0.998471	B	0.18968	0.032	B	0.19391	0.025	T	0.41179	-0.9523	10	0.26408	T	0.33	-11.61	9.2348	0.37459	0.2696:0.0:0.7304:0.0	.	400	P41002	CCNF_HUMAN	T	400;315	ENSP00000380256:A400T	ENSP00000293968:A315T	A	+	1	0	CCNF	2438960	1.000000	0.71417	0.131000	0.22000	0.901000	0.52897	4.555000	0.60767	-0.012000	0.14223	0.462000	0.41574	GCC		0.527	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		19	39	0	0	0	1	0	19	39					A	2498959	G	A	2498959	3	1	435	1	0	0	0	0	1	0	0	0	2922	1087	38	1	1240	1	CCNF	16	2498959	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	162236	2498959	87855794	6756	27681											
C16orf59	80178	broad.mit.edu	37	chr16	2510927	2510927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggccggagagagagacaagGcccccagcctgaaatctagg	13	3	14	11	1	1	3	0	1	1	2	1	6	1	4	4	4	1	0	4	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2510927G>A	ENST00000361837.4	+	4	372	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000569496.1_Missense_Mutation_p.A103T|C16orf59_ENST00000563531.1_Missense_Mutation_p.A103T|RP11-715J22.4_ENST00000566085.1_lincRNA	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	103										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GAGAGACAAGGCCCCCAGCCT	0.577																																						ENST00000569496.1																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(307-309)Gcc>Acc		chromosome 16 open reading frame 59							78	89	85					16																	2510927		2061	4201	6262	SO:0001583	missense	80178							g.chr16:2510927G>A	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.307G>A	16.37:g.2510927G>A	ENSP00000355022:p.Ala103Thr					C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000563531.1_Missense_Mutation_p.A103T|C16orf59_ENST00000361837.4_Missense_Mutation_p.A103T	p.A103T			Q7L2K0	CP059_HUMAN			4	366	+		Ovarian(90;0.17)	103					B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	37	c.307G>A	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957868	0.53400	.	.	ENSG00000162062	ENST00000361837	T	0.44083	0.93	4.68	-0.0306	0.13913	.	0.574206	0.13084	N	0.415081	T	0.23611	0.0571	L	0.38175	1.15	0.09310	N	0.999997	B	0.23891	0.093	B	0.21151	0.033	T	0.25710	-1.0124	10	0.09084	T	0.74	-0.4469	3.5834	0.07962	0.4044:0.1924:0.4033:0.0	.	103	Q7L2K0	CP059_HUMAN	T	103	ENSP00000355022:A103T	ENSP00000355022:A103T	A	+	1	0	C16orf59	2450928	0.002000	0.14202	0.000000	0.03702	0.563000	0.35712	1.326000	0.33735	-0.059000	0.13154	-0.136000	0.14681	GCC		0.577	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		12	28	0	0	0	1	0	12	28					A	2510927	G	A	2510927	3	1	435	1	0	0	0	0	1	0	0	0	1823	1203	42	3	321	3	C16orf59	16	2510927	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11968	2510927	87843826	6757	27682											
TBC1D24	57465	broad.mit.edu	37	chr16	2550834	2550834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggccaggcgctctacatcGatggggacctgaaccggggc	7	5	16	13	4	1	1	0	1	1	0	2	3	1	2	3	6	2	1	3	6	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2550834G>A	ENST00000293970.5	+	8	1688	c.1555G>A	c.(1555-1557)Gat>Aat	p.D519N	TBC1D24_ENST00000567020.1_Missense_Mutation_p.D513N|TBC1D24_ENST00000434757.2_Missense_Mutation_p.D519N|RP11-20I23.1_ENST00000564543.1_Intron	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	519	TLD.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GCTCTACATCGATGGGGACCT	0.652											OREG0023552	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000567020.1																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						c.(1537-1539)Gat>Aat		TBC1 domain family, member 24							42	55	50					16																	2550834		2146	4238	6384	SO:0001583	missense	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2550834G>A	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 6"	613577	"deafness, autosomal recessive 86"	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.1555G>A	16.37:g.2550834G>A	ENSP00000293970:p.Asp519Asn		OREG0023552	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	604	TBC1D24_ENST00000293970.5_Missense_Mutation_p.D519N|TBC1D24_ENST00000434757.2_Missense_Mutation_p.D519N|RP11-20I23.1_ENST00000564543.1_Intron	p.D513N	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN			7	1677	+			519			TLD.		A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	c.1537G>A	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510433	0.85389	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T	0.55234	0.53	5.79	5.79	0.91817	TLDc (2);	0.000000	0.85682	D	0.000000	T	0.76069	0.3936	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.984	T	0.78792	-0.2065	10	0.87932	D	0	-29.7743	18.6215	0.91322	0.0:0.0:1.0:0.0	.	519;513	Q9ULP9;Q9ULP9-2	TBC24_HUMAN;.	N	513;519	ENSP00000390106:D519N	ENSP00000293970:D513N	D	+	1	0	TBC1D24	2490835	1.000000	0.71417	0.984000	0.44739	0.117000	0.20001	7.639000	0.83342	2.731000	0.93534	0.650000	0.86243	GAT		0.652	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		9	11	0	0	0	1	0	9	11					A	2550834	G	A	2550834	3	1	435	1	0	0	0	0	1	0	0	0	15611	1058	37	2	1559	2	TBC1D24	16	2550834	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	39907	2550834	87803919	6758	27683											
CEMP1	752014	broad.mit.edu	37	chr16	2581028	2581028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgatgtgttagaggttgagCatcgcctgtgcccagcttgc	6	11	13	11	2	0	2	0	1	0	1	1	3	0	2	3	1	4	4	3	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2581028C>T	ENST00000567119.1	-	1	381	c.47G>A	c.(46-48)tGc>tAc	p.C16Y	CEMP1_ENST00000382350.1_Missense_Mutation_p.C16Y|AMDHD2_ENST00000565570.1_3'UTR|MIR3178_ENST00000581887.1_RNA|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000565480.1_Missense_Mutation_p.C16Y	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	16						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						AGAGGTTGAGCATCGCCTGTG	0.617																																						ENST00000382350.1																			0				lung(1)|skin(1)	2						c.(46-48)tGc>tAc		cementum protein 1							36	40	39					16																	2581028		2106	4227	6333	SO:0001583	missense	752014					cytoplasm		g.chr16:2581028C>T	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"cementum protein-23"	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.47G>A	16.37:g.2581028C>T	ENSP00000457380:p.Cys16Tyr					CEMP1_ENST00000567119.1_Missense_Mutation_p.C16Y|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000565480.1_Missense_Mutation_p.C16Y|AMDHD2_ENST00000565570.1_3'UTR	p.C16Y			Q6PRD7	CEMP1_HUMAN			1	392	-			16					B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	c.47G>A	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	C	1.802	-0.476793	0.04414	.	.	ENSG00000205923	ENST00000382350	T	0.56275	0.47	0.999	0.999	0.19862	.	.	.	.	.	T	0.45975	0.1369	N	0.08118	0	0.09310	N	1	D	0.62365	0.991	D	0.68039	0.955	T	0.27331	-1.0077	9	0.87932	D	0	.	5.3539	0.16050	0.0:1.0:0.0:0.0	.	16	Q6PRD7	CEMP1_HUMAN	Y	16	ENSP00000371787:C16Y	ENSP00000371787:C16Y	C	-	2	0	CEMP1	2521029	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.526000	0.06207	0.857000	0.35407	0.561000	0.74099	TGC		0.617	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	NM_001048212		20	45	0	0	0	1	0	20	45					T	2581028	C	T	2581028	3	4	435	1	0	0	0	0	1	0	0	0	3224	710	25	3	700	3	CEMP1	16	2581028	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30194	2581028	87773725	6759	27684											
KCTD5	54442	broad.mit.edu	37	chr16	2752452	2752452	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaacaccccgtacggtacGgccagcgagcccagcgagaa	12	2	11	16	5	0	1	0	0	0	1	0	3	0	1	4	2	6	2	4	2	4	2	rs530216796		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2752452G>A	ENST00000301738.4	+	5	722	c.648G>A	c.(646-648)acG>acA	p.T216T	KCTD5_ENST00000564195.1_Missense_Mutation_p.G186S	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	216					protein homooligomerization (GO:0051260)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						CGTACGGTACGGCCAGCGAGC	0.622													g|||	1	0.000199681	0	0	5008	,	,		17165	0		0	False		,,,				2504	0.001				Ovarian(56;981 1456 4301 50892)	ENST00000564195.1																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(556-558)Ggc>Agc		potassium channel tetramerization domain containing 5							70	62	65					16																	2752452		2197	4300	6497	SO:0001819	synonymous_variant	54442				interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr16:2752452G>A	AK000047	CCDS10475.1	16p13.3	2013-06-20	2013-06-20		ENSG00000167977	ENSG00000167977			21423	protein-coding gene	gene with protein product		611285	"potassium channel tetramerisation domain containing 5"			12477932	Standard	NM_018992		Approved	FLJ20040	uc002crd.3	Q9NXV2	OTTHUMG00000128930	ENST00000301738.4:c.648G>A	16.37:g.2752452G>A						KCTD5_ENST00000301738.4_Silent_p.T216T	p.G186S			Q9NXV2	KCTD5_HUMAN			4	565	+			0					D3DU96	Missense_Mutation	SNP	ENST00000301738.4	37	c.556G>A	CCDS10475.1																																																																																				0.622	KCTD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250909.2	NM_018992		6	29	0	0	0	1	0	6	29					A	2752452	G	A	2752452	2	1	435	1	0	0	0	0	0	0	0	1	8112	1103	39	2		2	KCTD5	16	2752452	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	171424	2752452	87602301	6760	27685											
PRSS27	83886	broad.mit.edu	37	chr16	2764112	2764112	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacccagcagttcatgccCgtctcaaagatcaccgaggg	10	7	11	13	2	3	2	3	1	1	1	4	3	3	2	3	1	2	2	3	1	1	1	rs375317802		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2764112C>T	ENST00000302641.3	-	4	516	c.462G>A	c.(460-462)acG>acA	p.T154T	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	154	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						AGTTCATGCCCGTCTCAAAGA	0.622																																						ENST00000302641.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(460-462)acG>acA		protease, serine 27							98	95	96					16																	2764112		2198	4300	6498	SO:0001819	synonymous_variant	83886				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2764112C>T	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"Serine peptidases / Serine peptidases"	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.462G>A	16.37:g.2764112C>T							p.T154T	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN			4	516	-			154			Peptidase S1.			Silent	SNP	ENST00000302641.3	37	c.462G>A	CCDS10476.1																																																																																				0.622	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		21	42	0	0	0	1	0	21	42					T	2764112	C	T	2764112	2	4	435	1	0	0	0	0	0	0	0	1	12621	639	23	2		2	PRSS27	16	2764112	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11660	2764112	87590641	6761	27686											
PRSS21	10942	broad.mit.edu	37	chr16	2870994	2870994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccaggaagttcaggtcGccatcataaacaactctatg	12	9	7	13	1	3	0	2	0	1	0	5	1	4	1	3	2	2	1	3	2	5	3	rs544776420		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2870994G>A	ENST00000005995.3	+	5	631	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	PRSS21_ENST00000450020.3_Missense_Mutation_p.A197T|PRSS21_ENST00000455114.1_Missense_Mutation_p.A195T|PRSS21_ENST00000575739.1_Intron			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	197	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						AGTTCAGGTCGCCATCATAAA	0.547																																						ENST00000455114.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						c.(583-585)Gcc>Acc		protease, serine, 21 (testisin)							343	328	333					16																	2870994		2198	4300	6498	SO:0001583	missense	10942				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity	g.chr16:2870994G>A	AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"Serine peptidases / Serine peptidases"	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.589G>A	16.37:g.2870994G>A	ENSP00000005995:p.Ala197Thr					PRSS21_ENST00000005995.3_Missense_Mutation_p.A197T|PRSS21_ENST00000450020.3_Missense_Mutation_p.A197T|PRSS21_ENST00000575739.1_Intron	p.A195T	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN			5	689	+			197			Peptidase S1.		Q9NS34|Q9P2V6	Missense_Mutation	SNP	ENST00000005995.3	37	c.583G>A	CCDS10478.1	.	.	.	.	.	.	.	.	.	.	g	8.156	0.788382	0.16258	.	.	ENSG00000007038	ENST00000455114;ENST00000450020;ENST00000005995	D;D;D	0.88124	-2.34;-2.34;-2.34	4.26	-0.389	0.12455	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.58821	0.2149	N	0.01209	-0.955	0.09310	N	1	B;B;B	0.33777	0.425;0.371;0.371	B;B;B	0.30855	0.121;0.05;0.05	T	0.57027	-0.7881	9	0.27082	T	0.32	.	0.6117	0.00763	0.2409:0.2472:0.3291:0.1828	.	197;195;197	Q9Y6M0;Q9Y6M0-2;Q9Y6M0-3	TEST_HUMAN;.;.	T	195;197;197	ENSP00000400632:A195T;ENSP00000407741:A197T;ENSP00000005995:A197T	ENSP00000005995:A197T	A	+	1	0	PRSS21	2810995	0.000000	0.05858	0.010000	0.14722	0.284000	0.27059	-0.369000	0.07533	0.041000	0.15688	0.567000	0.79289	GCC		0.547	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799		67	119	0	0	0	1	0	67	119					A	2870994	G	A	2870994	3	1	435	1	0	0	0	0	1	0	0	0	12618	1087	38	1	607	1	PRSS21	16	2870994	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	106882	2870994	87483759	6762	27687											
PRSS21	10942	broad.mit.edu	37	chr16	2871093	2871093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggcaatgcccaaggcGggaaggatgcctgcttcgtg	7	8	16	10	2	0	0	0	0	0	0	1	2	0	2	2	4	4	3	2	4	3	1	rs373819301		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2871093G>A	ENST00000005995.3	+	5	730	c.688G>A	c.(688-690)Ggg>Agg	p.G230R	PRSS21_ENST00000450020.3_Intron|PRSS21_ENST00000455114.1_Missense_Mutation_p.G228R|PRSS21_ENST00000575739.1_Intron			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	230	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						TGCCCAAGGCGGGAAGGATGC	0.542																																						ENST00000455114.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						c.(682-684)Ggg>Agg		protease, serine, 21 (testisin)		G	ARG/GLY,ARG/GLY,	1,4395	2.1+/-5.4	0,1,2197	258	229	239		688,682,	0.4	0	16		239	0,8600		0,0,4300	no	missense,missense,intron	PRSS21	NM_006799.2,NM_144956.1,NM_144957.1	125,125,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,	230/315,228/313,	2871093	1,12995	2198	4300	6498	SO:0001583	missense	10942				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity	g.chr16:2871093G>A	AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"Serine peptidases / Serine peptidases"	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.688G>A	16.37:g.2871093G>A	ENSP00000005995:p.Gly230Arg					PRSS21_ENST00000005995.3_Missense_Mutation_p.G230R|PRSS21_ENST00000450020.3_Intron|PRSS21_ENST00000575739.1_Intron	p.G228R	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN			5	788	+			230			Peptidase S1.		Q9NS34|Q9P2V6	Missense_Mutation	SNP	ENST00000005995.3	37	c.682G>A	CCDS10478.1	.	.	.	.	.	.	.	.	.	.	g	7.367	0.626000	0.14257	2.27E-4	0.0	ENSG00000007038	ENST00000455114;ENST00000005995	D;D	0.90133	-2.62;-2.62	4.14	0.42	0.16444	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.86322	0.5905	L	0.55103	1.725	0.09310	N	1	P;B	0.50710	0.938;0.171	B;B	0.42798	0.398;0.035	T	0.76280	-0.3017	9	0.44086	T	0.13	.	6.7545	0.23505	0.5373:0.0:0.4627:0.0	.	230;228	Q9Y6M0;Q9Y6M0-2	TEST_HUMAN;.	R	228;230	ENSP00000400632:G228R;ENSP00000005995:G230R	ENSP00000005995:G230R	G	+	1	0	PRSS21	2811094	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.700000	0.05081	0.220000	0.20860	0.567000	0.79289	GGG		0.542	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799		4	174	0	0	0	1	0	4	174					A	2871093	G	A	2871093	3	1	435	1	0	0	0	0	1	0	0	0	12618	1116	39	2	706	2	PRSS21	16	2871093	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	99	2871093	87483660	6763	27688											
PAQR4	124222	broad.mit.edu	37	chr16	3021331	3021331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagcgctgtgtacgccCggctcctcgccctggacatg	4	7	15	15	4	0	0	0	0	0	0	2	1	1	1	3	4	2	4	3	4	1	1	rs369368361		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3021331C>T	ENST00000318782.8	+	2	770	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	PAQR4_ENST00000576565.1_Missense_Mutation_p.R47W|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000293978.8_Missense_Mutation_p.R75W|PAQR4_ENST00000574988.1_Missense_Mutation_p.R47W|PAQR4_ENST00000572687.1_Intron|PKMYT1_ENST00000431515.2_Intron	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	114						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						TGTGTACGCCCGGCTCCTCGC	0.652																																						ENST00000318782.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(340-342)Cgg>Tgg		progestin and adipoQ receptor family member IV		C	TRP/ARG	1,4395	2.1+/-5.4	0,1,2197	67	65	66		340	4.7	1	16		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	PAQR4	NM_152341.3	101	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	114/274	3021331	2,12994	2198	4300	6498	SO:0001583	missense	124222					integral to membrane	receptor activity	g.chr16:3021331C>T		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.340C>T	16.37:g.3021331C>T	ENSP00000321804:p.Arg114Trp					PAQR4_ENST00000574988.1_Missense_Mutation_p.R47W|PAQR4_ENST00000576565.1_Missense_Mutation_p.R47W|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Missense_Mutation_p.R75W|PAQR4_ENST00000572687.1_Intron	p.R114W	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN			2	770	+			114					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Missense_Mutation	SNP	ENST00000318782.8	37	c.340C>T	CCDS10485.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658544	0.67586	2.27E-4	1.16E-4	ENSG00000162073	ENST00000318782	T	0.29142	1.58	4.72	4.72	0.59763	.	0.224693	0.37012	N	0.002290	T	0.36054	0.0953	N	0.25332	0.735	0.35460	D	0.79642	D;D	0.76494	0.996;0.999	P;D	0.63192	0.624;0.912	T	0.41378	-0.9512	10	0.37606	T	0.19	-22.4788	10.4453	0.44490	0.1949:0.8051:0.0:0.0	.	75;114	Q8N4S7-2;Q8N4S7	.;PAQR4_HUMAN	W	114	ENSP00000321804:R114W	ENSP00000321804:R114W	R	+	1	2	PAQR4	2961332	0.998000	0.40836	1.000000	0.80357	0.781000	0.44180	3.789000	0.55454	2.169000	0.68431	0.457000	0.33378	CGG		0.652	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		24	46	0	0	0	1	0	24	46					T	3021331	C	T	3021331	3	4	435	1	0	0	0	0	1	0	0	0	11437	643	23	2	346	2	PAQR4	16	3021331	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	150238	3021331	87333422	6764	27689											
MMP25	64386	broad.mit.edu	37	chr16	3100101	3100101	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggcggcgtcgccggtaCgctctgagcggcagcgtgtg	4	7	18	12	7	2	1	1	1	1	0	3	1	2	1	1	4	3	3	1	4	1	1	rs373639552		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3100101C>T	ENST00000336577.4	+	3	561	c.324C>T	c.(322-324)taC>taT	p.Y108Y	MMP25_ENST00000570755.1_3'UTR|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	123					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	GTCGCCGGTACGCTCTGAGCG	0.701																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	ENST00000336577.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						c.(322-324)taC>taT		matrix metallopeptidase 25		C		3,4391	6.2+/-15.9	0,3,2194	58	62	61		324	-7.1	0	16		61	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	MMP25	NM_022468.4		0,5,6491	TT,TC,CC		0.0233,0.0683,0.0385		108/563	3100101	5,12987	2197	4299	6496	SO:0001819	synonymous_variant	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3100101C>T	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"matrix metalloproteinase 25", "matrix metallopeptidase-like 1"	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.324C>T	16.37:g.3100101C>T						MMP25_ENST00000570755.1_3'UTR	p.Y108Y	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN			3	561	+			108					Q96F04|Q96TE2	Silent	SNP	ENST00000336577.4	37	c.324C>T	CCDS10492.1																																																																																				0.701	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		19	38	0	0	0	1	0	19	38					T	3100101	C	T	3100101	2	4	435	1	0	0	0	0	0	0	0	1	9662	547	19	1		1	MMP25	16	3100101	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	78770	3100101	87254652	6765	27690											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140145	3140145	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactctgcgcacaggaaggcGggttcggaggagtgggtcag	8	6	18	9	3	2	0	1	0	1	0	3	3	2	3	0	6	1	2	0	6	1	1	rs374608894		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3140145G>A	ENST00000252463.2	-	5	1212	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	ZSCAN10_ENST00000538082.2_Silent_p.P293P|ZSCAN10_ENST00000575108.1_Silent_p.P36P	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	375					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						ACAGGAAGGCGGGTTCGGAGG	0.721																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1123-1125)ccC>ccT		zinc finger and SCAN domain containing 10		G		0,4248		0,0,2124	23	30	28		1125	-10	0.2	16		28	1,8255		0,1,4127	no	coding-synonymous	ZSCAN10	NM_032805.1		0,1,6251	AA,AG,GG		0.0121,0.0,0.0080		375/726	3140145	1,12503	2124	4128	6252	SO:0001819	synonymous_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140145G>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1125C>T	16.37:g.3140145G>A						ZSCAN10_ENST00000575108.1_Silent_p.P36P|ZSCAN10_ENST00000538082.2_Silent_p.P293P	p.P375P	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	1212	-			375					B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.1125C>T	CCDS10493.1																																																																																				0.721	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		22	35	0	0	0	1	0	22	35					A	3140145	G	A	3140145	2	1	435	1	0	0	0	0	0	0	0	1	18224	1103	39	2		2	ZSCAN10	16	3140145	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	40044	3140145	87214608	6766	27691											
ZNF205	7755	broad.mit.edu	37	chr16	3165366	3165366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttctaggttccagatcGtggacatcctcatcaggaaa	10	12	8	11	1	3	1	2	0	1	1	7	3	6	3	3	3	0	1	3	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3165366G>A	ENST00000382192.3	+	3	273	c.68G>A	c.(67-69)cGt>cAt	p.R23H	ZNF205-AS1_ENST00000576943.1_RNA|ZNF205-AS1_ENST00000572691.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R23H|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	23					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GTTCCAGATCGTGGACATCCT	0.582																																						ENST00000382192.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(67-69)cGt>cAt		zinc finger protein 205							79	75	76					16																	3165366		2197	4300	6497	SO:0001583	missense	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3165366G>A	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.68G>A	16.37:g.3165366G>A	ENSP00000371627:p.Arg23His					ZNF205-AS1_ENST00000572691.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R23H	p.R23H	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN			3	273	+			23					A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	ENST00000382192.3	37	c.68G>A	CCDS10494.2	.	.	.	.	.	.	.	.	.	.	G	7.217	0.596651	0.13875	.	.	ENSG00000122386	ENST00000382192;ENST00000219091;ENST00000444510;ENST00000414351	T;T;T;T	0.47528	3.12;3.12;0.84;3.16	4.52	-4.92	0.03075	.	1.477610	0.04578	N	0.394489	T	0.17066	0.0410	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08953	-1.0697	10	0.23891	T	0.37	-0.9406	3.4317	0.07430	0.2511:0.4646:0.1695:0.1148	.	23	O95201	ZN205_HUMAN	H	23	ENSP00000371627:R23H;ENSP00000219091:R23H;ENSP00000394360:R23H;ENSP00000403306:R23H	ENSP00000219091:R23H	R	+	2	0	ZNF205	3105367	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.816000	0.04477	-0.731000	0.04862	-0.367000	0.07326	CGT		0.582	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		26	38	0	0	0	1	0	26	38					A	3165366	G	A	3165366	3	1	435	1	0	0	0	0	1	0	0	0	17761	1145	40	1	74	1	ZNF205	16	3165366	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25221	3165366	87189387	6767	27692											
ZNF205	7755	broad.mit.edu	37	chr16	3165484	3165484	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacactccgagggggcatcGcaggaggatggggctcaagg	9	4	17	11	2	1	0	1	0	0	0	3	3	2	2	2	7	0	3	2	7	1	0	rs144841352		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3165484G>A	ENST00000382192.3	+	3	391	c.186G>A	c.(184-186)tcG>tcA	p.S62S	ZNF205-AS1_ENST00000576943.1_RNA|ZNF205-AS1_ENST00000572691.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.S62S|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	62					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						AGGGGGCATCGCAGGAGGATG	0.612																																						ENST00000382192.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(184-186)tcG>tcA		zinc finger protein 205		G	,	0,4394		0,0,2197	47	47	47		186,186	-7.9	0	16	dbSNP_134	47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZNF205	NM_001042428.1,NM_003456.2	,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,	62/555,62/555	3165484	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3165484G>A	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.186G>A	16.37:g.3165484G>A						ZNF205-AS1_ENST00000572691.1_RNA|ZNF205_ENST00000219091.4_Silent_p.S62S	p.S62S	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN			3	391	+			62					A8MZK0|D3DUB4|Q9BU95	Silent	SNP	ENST00000382192.3	37	c.186G>A	CCDS10494.2																																																																																				0.612	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		10	34	0	0	0	1	0	10	34					A	3165484	G	A	3165484	2	1	435	1	0	0	0	0	0	0	0	1	17761	1074	38	1		1	ZNF205	16	3165484	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	118	3165484	87189269	6768	27693											
MEFV	4210	broad.mit.edu	37	chr16	3306561	3306561	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcctccagggtggacagCagatggtcactaggggtctt	8	9	14	10	0	2	1	1	0	1	1	4	2	4	2	2	5	2	2	2	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3306561C>T	ENST00000219596.1	-	1	66	c.27G>A	c.(25-27)ctG>ctA	p.L9L	MEFV_ENST00000339854.4_Silent_p.L9L|MEFV_ENST00000536379.1_Silent_p.L9L|MEFV_ENST00000541159.1_Silent_p.L9L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	9	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGGTGGACAGCAGATGGTCAC	0.567																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(25-27)ctG>ctA		Mediterranean fever	Colchicine(DB01394)						87	96	93					16																	3306561		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3306561C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.27G>A	16.37:g.3306561C>T						MEFV_ENST00000339854.4_Silent_p.L9L|MEFV_ENST00000536379.1_Silent_p.L9L|MEFV_ENST00000541159.1_Silent_p.L9L	p.L9L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			1	66	-			9			DAPIN.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.27G>A	CCDS10498.1																																																																																				0.567	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		13	10	0	0	0	1	0	13	10					T	3306561	C	T	3306561	2	4	435	1	0	0	0	0	0	0	0	1	9459	697	25	3		3	MEFV	16	3306561	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	141077	3306561	87048192	6769	27694											
NLRC3	197358	broad.mit.edu	37	chr16	3611718	3611718	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttacctgatcttctgaatgCgacagtccttcccactcagc	8	12	7	14	1	3	2	1	2	2	0	5	3	5	2	3	0	3	1	3	0	2	3	rs148712383		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3611718C>T	ENST00000301749.7	-	0	2405				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTCTGAATGCGACAGTCCTT	0.597													C|||	1	0.000199681	8e-04	0	5008	,	,		18891	0		0	False		,,,				2504	0					ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3		C	HIS/ARG	5,4201		0,5,2098	91	101	98		2000	2.2	1	16	dbSNP_134	98	0,8426		0,0,4213	yes	missense	NLRC3	NM_178844.2	29	0,5,6311	TT,TC,CC		0.0,0.1189,0.0396	benign	667/1066	3611718	5,12627	2103	4213	6316			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3611718C>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3611718C>T						NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	2405	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	10.10	1.257935	0.22965	0.001189	0.0	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.52983	0.64;0.64;0.64	5.55	2.16	0.27623	.	0.481828	0.22726	N	0.056399	T	0.16171	0.0389	.	.	.	0.22330	N	0.999195	B	0.16166	0.016	B	0.26094	0.066	T	0.08868	-1.0701	9	0.12430	T	0.62	.	1.3279	0.02129	0.1772:0.4553:0.1708:0.1968	.	714	C9JLH9	.	H	667;667;667;714	ENSP00000301749:R667H;ENSP00000352039:R667H;ENSP00000414415:R714H	ENSP00000301749:R667H	R	-	2	0	NLRC3	3551719	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.809000	0.47971	1.357000	0.45904	0.555000	0.69702	CGC		0.597	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		13	41	0	0	0	1	0	13	41					T	3611718	C	T	3611718	1	4	435	0	1	0	0	0	0	0	0	0	10468	768	27	1		1	NLRC3	16	3611718	RNA	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	305157	3611718	86743035	6770	27695											
NLRC3	197358	broad.mit.edu	37	chr16	3613607	3613607	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccactgacgatgccaacGtctcctctctctgcaggaag	9	8	10	14	2	3	1	0	1	3	0	5	3	3	2	3	2	3	1	3	2	2	0	rs540032572		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3613607G>A	ENST00000301749.7	-	0	1736				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGATGCCAACGTCTCCTCTCT	0.572													G|||	1	0.000199681	0	0.0014	5008	,	,		20581	0		0	False		,,,				2504	0					ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							46	47	47					16																	3613607		2065	4199	6264			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613607G>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613607G>A						NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	1736	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	G	9.303	1.053514	0.19907	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.35	4.39	0.52855	.	0.242018	0.35466	N	0.003199	D	0.85522	0.5716	.	.	.	0.22975	N	0.998487	P	0.40107	0.703	P	0.46339	0.513	T	0.78853	-0.2040	9	0.52906	T	0.07	.	13.8484	0.63481	0.0:0.1543:0.8457:0.0	.	491	C9JLH9	.	M	444;444;444;491;426	ENSP00000301749:T444M;ENSP00000352039:T444M;ENSP00000414415:T491M;ENSP00000323897:T426M	ENSP00000301749:T444M	T	-	2	0	NLRC3	3553608	0.777000	0.28628	0.833000	0.33012	0.379000	0.30106	1.444000	0.35068	1.244000	0.43870	0.655000	0.94253	ACG		0.572	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		7	14	0	0	0	1	0	7	14					A	3613607	G	A	3613607	1	1	435	0	1	0	0	0	0	0	0	0	10468	1145	40	1		1	NLRC3	16	3613607	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1889	3613607	86741146	6771	27696											
NLRC3	197358	broad.mit.edu	37	chr16	3614738	3614738	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgctcagcagggccttgCggtgcctctgtatccttgag	4	12	12	13	1	2	1	1	1	1	0	3	1	3	1	4	2	4	3	4	2	1	4	rs539597311		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3614738C>T	ENST00000301749.7	-	0	605				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGGGCCTTGCGGTGCCTCTG	0.677																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							8	10	9					16																	3614738		1997	4082	6079			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3614738C>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614738C>T						NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	605	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	C	15.39	2.818895	0.50633	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.78126	-0.55;-0.58;-0.55;-1.15	5.04	-1.73	0.08081	.	0.898368	0.09362	N	0.812680	T	0.49115	0.1538	.	.	.	0.09310	N	1	P	0.45283	0.855	B	0.32805	0.153	T	0.47686	-0.9098	9	0.22706	T	0.39	.	0.5354	0.00636	0.2044:0.3195:0.1394:0.3367	.	114	C9JLH9	.	H	67;67;67;114;84	ENSP00000301749:R67H;ENSP00000352039:R67H;ENSP00000414415:R114H;ENSP00000323897:R84H	ENSP00000301749:R67H	R	-	2	0	NLRC3	3554739	0.026000	0.19158	0.028000	0.17463	0.611000	0.37282	0.315000	0.19451	-0.128000	0.11641	0.655000	0.94253	CGC		0.677	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		10	11	0	0	0	1	0	10	11					T	3614738	C	T	3614738	1	4	435	0	1	0	0	0	0	0	0	0	10468	768	27	1		1	NLRC3	16	3614738	RNA	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1131	3614738	86740015	6772	27697											
BTBD12	84464	broad.mit.edu	37	chr16	3639505	3639505	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggaagcttggcccaggCggcgagtgtttcaggaaccg	8	8	15	10	3	2	0	2	0	0	0	2	3	2	2	2	5	2	2	2	5	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3639505C>T	ENST00000294008.3	-	12	4774	c.4134G>A	c.(4132-4134)ccG>ccA	p.P1378P		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1378	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTGGCCCAGGCGGCGAGTGTT	0.657								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(4132-4134)ccG>ccA	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							44	49	48					16																	3639505		2196	4299	6495	SO:0001819	synonymous_variant	84464				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	g.chr16:3639505C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4134G>A	16.37:g.3639505C>T							p.P1378P	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	4774	-			1378			Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.4134G>A	CCDS10506.2																																																																																				0.657	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		4	49	0	0	0	1	0	4	49					T	3639505	C	T	3639505	2	4	435	1	0	0	0	0	0	0	0	1	1540	755	27	1		1	BTBD12	16	3639505	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	24767	3639505	86715248	6773	27698											
BTBD12	84464	broad.mit.edu	37	chr16	3656526	3656526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgggacattttcttcccGcgcagcctcgagggagcact	6	11	11	13	3	1	0	0	0	1	0	3	3	2	2	2	2	2	2	2	2	0	4	rs199912910	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3656526G>A	ENST00000294008.3	-	3	1349	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	237	Interaction with SLX4IP, ERCC4 and MSH2.		R -> Q (in dbSNP:rs138615800). {ECO:0000269|PubMed:22911665}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTTTCTTCCCGCGCAGCCTCG	0.512								Direct reversal of damage					G|||	3	0.000599042	0	0	5008	,	,		19199	0.002		0	False		,,,				2504	0.001					ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(709-711)Cgg>Tgg	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							228	224	225					16																	3656526		2197	4300	6497	SO:0001583	missense	84464				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	g.chr16:3656526G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.709C>T	16.37:g.3656526G>A	ENSP00000294008:p.Arg237Trp						p.R237W	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			3	1349	-			237			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.709C>T	CCDS10506.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	11.34	1.610408	0.28712	.	.	ENSG00000188827	ENST00000294008	T	0.01126	5.3	5.16	-3.39	0.04868	.	2.253860	0.01848	N	0.035730	T	0.00637	0.0021	N	0.08118	0	0.09310	N	1	P	0.36616	0.561	B	0.19148	0.024	T	0.44590	-0.9318	10	0.59425	D	0.04	.	2.7089	0.05169	0.214:0.4239:0.2131:0.149	.	237	Q8IY92	SLX4_HUMAN	W	237	ENSP00000294008:R237W	ENSP00000294008:R237W	R	-	1	2	SLX4	3596527	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.870000	0.04228	-0.341000	0.08376	-0.345000	0.07892	CGG		0.512	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		25	171	0	0	0	1	0	25	171					A	3656526	G	A	3656526	3	1	435	1	0	0	0	0	1	0	0	0	1540	1086	38	1	4847	1	BTBD12	16	3656526	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17021	3656526	86698227	6774	27699											
DNASE1	1773	broad.mit.edu	37	chr16	3707287	3707287	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagccccaccttccagtggCtgatccccgacagcgctgac	8	6	9	18	2	0	2	0	2	0	0	2	3	2	2	6	1	2	2	6	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3707287C>T	ENST00000246949.5	+	7	3858	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	DNASE1_ENST00000407479.1_Silent_p.L217L|DNASE1_ENST00000414110.2_Silent_p.L100L	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	217					apoptotic process (GO:0006915)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	deoxyribonuclease I activity (GO:0004530)			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)		CTTCCAGTGGCTGATCCCCGA	0.617																																						ENST00000246949.5																			0				lung(1)	1						c.(649-651)Ctg>Ttg		deoxyribonuclease I	Dornase Alfa(DB00003)						79	64	69					16																	3707287		2197	4300	6497	SO:0001819	synonymous_variant	1773				apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity	g.chr16:3707287C>T		CCDS10507.1	16p13.3	2008-02-05			ENSG00000213918	ENSG00000213918	3.1.21.1		2956	protein-coding gene	gene with protein product		125505		DNL1		2349940	Standard	XM_005255148		Approved		uc002cvr.3	P24855	OTTHUMG00000129426	ENST00000246949.5:c.649C>T	16.37:g.3707287C>T						DNASE1_ENST00000414110.2_Silent_p.L100L|DNASE1_ENST00000407479.1_Silent_p.L217L	p.L217L	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN		Kidney(780;0.0556)	7	3858	+		Ovarian(90;0.0261)	217					B4DV35|Q14UU9|Q14UV0	Silent	SNP	ENST00000246949.5	37	c.649C>T	CCDS10507.1																																																																																				0.617	DNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251585.2			17	14	0	0	0	1	0	17	14					T	3707287	C	T	3707287	2	4	435	1	0	0	0	0	0	0	0	1	4660	796	28	3		3	DNASE1	16	3707287	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	50761	3707287	86647466	6775	27700											
TRAP1	10131	broad.mit.edu	37	chr16	3712941	3712941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggccatgagctcctccGtctccttctctgataggcac	6	11	8	16	1	2	2	0	2	2	0	7	2	5	2	5	2	1	2	5	2	1	2	rs112776374		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3712941G>A	ENST00000246957.5	-	15	1824	c.1736C>T	c.(1735-1737)aCg>aTg	p.T579M	TRAP1_ENST00000575671.1_Missense_Mutation_p.T370M|DNASE1_ENST00000575152.1_3'UTR|TRAP1_ENST00000538171.1_Missense_Mutation_p.T526M|DNASE1_ENST00000414110.2_Intron	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	579					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GAGCTCCTCCGTCTCCTTCTC	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		18725	0		0	False		,,,				2504	0					ENST00000575671.1																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1108-1110)aCg>aTg		TNF receptor-associated protein 1		G	MET/THR	4,4390	8.1+/-20.4	0,4,2193	101	74	83		1736	3.5	0.6	16	dbSNP_132	83	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TRAP1	NM_016292.2	81	0,6,6491	AA,AG,GG		0.0233,0.091,0.0462	benign	579/705	3712941	6,12988	2197	4300	6497	SO:0001583	missense	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3712941G>A	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"Heat shock proteins / HSPC"	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.1736C>T	16.37:g.3712941G>A	ENSP00000246957:p.Thr579Met					DNASE1_ENST00000414110.2_Intron|TRAP1_ENST00000246957.5_Missense_Mutation_p.T579M|TRAP1_ENST00000538171.1_Missense_Mutation_p.T526M|DNASE1_ENST00000575152.1_3'UTR	p.T370M			Q12931	TRAP1_HUMAN			10	1838	-		Ovarian(90;0.0261)	579					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	ENST00000246957.5	37	c.1109C>T	CCDS10508.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.52	1.372271	0.24857	9.1E-4	2.33E-4	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.09163	3.01;3.01	5.45	3.51	0.40186	.	0.175452	0.49916	N	0.000125	T	0.05960	0.0155	N	0.05383	-0.06	0.36124	D	0.84567	B;B	0.11235	0.003;0.004	B;B	0.17098	0.01;0.017	T	0.29671	-1.0004	10	0.31617	T	0.26	-14.5433	11.2957	0.49277	0.1473:0.0:0.8527:0.0	.	526;579	F5H897;Q12931	.;TRAP1_HUMAN	M	579;526	ENSP00000246957:T579M;ENSP00000442070:T526M	ENSP00000246957:T579M	T	-	2	0	TRAP1	3652942	0.998000	0.40836	0.589000	0.28718	0.252000	0.25951	4.490000	0.60319	0.688000	0.31529	-0.143000	0.13931	ACG		0.637	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		12	10	0	0	0	1	0	12	10					A	3712941	G	A	3712941	3	1	435	1	0	0	0	0	1	0	0	0	16452	1145	40	1	394	1	TRAP1	16	3712941	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5654	3712941	86641812	6776	27701											
TRAP1	10131	broad.mit.edu	37	chr16	3729744	3729744	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaccccgatctggcaatcgtCcccaggttggacaccagctc	8	7	10	16	2	1	0	0	0	1	0	4	3	2	1	5	3	1	3	5	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3729744C>T	ENST00000246957.5	-	5	607	c.519G>A	c.(517-519)ggG>ggA	p.G173G	TRAP1_ENST00000575671.1_5'Flank|TRAP1_ENST00000538171.1_Silent_p.G120G|TRAP1_ENST00000573872.1_5'Flank	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	173					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TGGCAATCGTCCCCAGGTTGG	0.637																																						ENST00000246957.5																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(517-519)ggG>ggA		TNF receptor-associated protein 1							77	64	69					16																	3729744		2197	4300	6497	SO:0001819	synonymous_variant	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3729744C>T	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"Heat shock proteins / HSPC"	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.519G>A	16.37:g.3729744C>T						TRAP1_ENST00000538171.1_Silent_p.G120G	p.G173G	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN			5	607	-		Ovarian(90;0.0261)	173					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Silent	SNP	ENST00000246957.5	37	c.519G>A	CCDS10508.1																																																																																				0.637	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		18	25	0	0	0	1	0	18	25					T	3729744	C	T	3729744	2	4	435	1	0	0	0	0	0	0	0	1	16452	842	30	3		3	TRAP1	16	3729744	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16803	3729744	86625009	6777	27702											
TRAP1	10131	broad.mit.edu	37	chr16	3736032	3736032	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctttctcggcattggtctGcaagtgaatctccatttctg	6	15	9	11	1	4	1	0	1	4	0	6	1	4	1	2	2	1	2	2	2	2	3	rs377595918		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3736032G>A	ENST00000246957.5	-	4	524	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	TRAP1_ENST00000538171.1_Nonsense_Mutation_p.Q93*	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	146					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GCATTGGTCTGCAAGTGAATC	0.567																																						ENST00000246957.5																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(436-438)Cag>Tag		TNF receptor-associated protein 1							229	156	181					16																	3736032		2197	4300	6497	SO:0001587	stop_gained	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3736032G>A	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"Heat shock proteins / HSPC"	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.436C>T	16.37:g.3736032G>A	ENSP00000246957:p.Gln146*					TRAP1_ENST00000538171.1_Nonsense_Mutation_p.Q93*	p.Q146*	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN			4	524	-		Ovarian(90;0.0261)	146					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Nonsense_Mutation	SNP	ENST00000246957.5	37	c.436C>T	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	G	38	7.077176	0.98048	.	.	ENSG00000126602	ENST00000246957;ENST00000538171	.	.	.	5.5	5.5	0.81552	.	0.058834	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-37.8877	18.3715	0.90408	0.0:0.0:1.0:0.0	.	.	.	.	X	146;93	.	ENSP00000246957:Q146X	Q	-	1	0	TRAP1	3676033	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	5.051000	0.64257	2.581000	0.87130	0.561000	0.74099	CAG		0.567	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		20	30	0	0	0	1	0	20	30					A	3736032	G	A	3736032	4	1	435	1	0	0	0	0	0	1	0	0	16452	1328	46	3	1738	3	TRAP1	16	3736032	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6288	3736032	86618721	6778	27703											
CREBBP	1387	broad.mit.edu	37	chr16	3779041	3779041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctcacctggttgggtcgggGcacattcaggctcacggggg	5	8	17	11	2	3	0	3	0	0	0	4	0	3	0	1	7	0	4	1	7	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3779041G>A	ENST00000262367.5	-	31	6816	c.6007C>T	c.(6007-6009)Ccc>Tcc	p.P2003S	CREBBP_ENST00000382070.3_Missense_Mutation_p.P1965S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2003					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			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)		TTGGGTCGGGGCACATTCAGG	0.697			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				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						c.(6007-6009)Ccc>Tcc		CREB binding protein							15	16	16					16																	3779041		2188	4288	6476	SO:0001583	missense	1387				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	g.chr16:3779041G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6007C>T	16.37:g.3779041G>A	ENSP00000262367:p.Pro2003Ser					CREBBP_ENST00000382070.3_Missense_Mutation_p.P1965S	p.P2003S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	6816	-		Ovarian(90;0.0266)	2003					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.6007C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	5.491	0.275520	0.10403	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.83591	-1.74;-1.66	5.11	4.13	0.48395	.	0.083425	0.51477	D	0.000091	T	0.72755	0.3500	L	0.29908	0.895	0.51482	D	0.999924	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68458	-0.5403	10	0.62326	D	0.03	-6.5841	9.2847	0.37749	0.0827:0.1447:0.7726:0.0	.	2033;2003	Q4LE28;Q92793	.;CBP_HUMAN	S	2003;2033;1965;538	ENSP00000262367:P2003S;ENSP00000371502:P1965S	ENSP00000262367:P2003S	P	-	1	0	CREBBP	3719042	1.000000	0.71417	0.997000	0.53966	0.587000	0.36485	4.444000	0.60001	1.114000	0.41781	0.655000	0.94253	CCC		0.697	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		6	6	0	0	0	1	0	6	6					A	3779041	G	A	3779041	3	1	435	1	0	0	0	0	1	0	0	0	3861	1203	42	3	1325	3	CREBBP	16	3779041	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43009	3779041	86575712	6779	27704											
CREBBP	1387	broad.mit.edu	37	chr16	3779687	3779687	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggcagcgagcagttggcGttgcggcactggcacgcgtg	6	7	18	10	5	0	0	0	0	0	0	0	2	0	0	0	4	3	6	0	4	0	2	rs375462934		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3779687G>A	ENST00000262367.5	-	31	6170	c.5361C>T	c.(5359-5361)aaC>aaT	p.N1787N	CREBBP_ENST00000382070.3_Silent_p.N1749N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1787	Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			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)		AGCAGTTGGCGTTGCGGCACT	0.662			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				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						c.(5359-5361)aaC>aaT		CREB binding protein		G	,	0,4394		0,0,2197	56	48	51		5247,5361	-5.8	0.9	16		51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CREBBP	NM_001079846.1,NM_004380.2	,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,	1749/2405,1787/2443	3779687	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	1387				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	g.chr16:3779687G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5361C>T	16.37:g.3779687G>A						CREBBP_ENST00000382070.3_Silent_p.N1749N	p.N1787N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	6170	-		Ovarian(90;0.0266)	1787			Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.5361C>T	CCDS10509.1																																																																																				0.662	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		15	20	0	0	0	1	0	15	20					A	3779687	G	A	3779687	2	1	435	1	0	0	0	0	0	0	0	1	3861	1136	40	1		1	CREBBP	16	3779687	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	646	3779687	86575066	6780	27705											
CREBBP	1387	broad.mit.edu	37	chr16	3807828	3807828	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgcgtccacagcaataTccaagggactgcatgacagg	12	7	10	12	1	0	1	0	1	0	0	2	2	2	2	3	2	3	2	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3807828T>C	ENST00000262367.5	-	18	4400	c.3591A>G	c.(3589-3591)ggA>ggG	p.G1197G	CREBBP_ENST00000382070.3_Silent_p.G1159G	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1197					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			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)		CACAGCAATATCCAAGGGACT	0.453			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				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						c.(3589-3591)ggA>ggG		CREB binding protein							94	83	86					16																	3807828		2197	4300	6497	SO:0001819	synonymous_variant	1387				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	g.chr16:3807828T>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3591A>G	16.37:g.3807828T>C						CREBBP_ENST00000382070.3_Silent_p.G1159G	p.G1197G	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	18	4400	-		Ovarian(90;0.0266)	1197					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.3591A>G	CCDS10509.1																																																																																				0.453	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		15	22	0	0	0	1	0	15	22					C	3807828	T	C	3807828	2	2	435	1	0	0	0	0	0	0	0	1	3861	1422	50	4		4	CREBBP	16	3807828	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	28141	3807828	86546925	6781	27706											
CREBBP	1387	broad.mit.edu	37	chr16	3832871	3832871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtggcattctgttgccCtgtgccaacagaaccaattg	11	10	10	10	0	1	2	0	0	1	2	1	2	1	2	3	1	4	2	3	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3832871C>A	ENST00000262367.5	-	6	2196	c.1387G>T	c.(1387-1389)Ggg>Tgg	p.G463W	CREBBP_ENST00000382070.3_Missense_Mutation_p.G425W	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	463					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			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)		TTCTGTTGCCCTGTGCCAACA	0.493			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				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						c.(1387-1389)Ggg>Tgg		CREB binding protein							98	90	93					16																	3832871		2197	4300	6497	SO:0001583	missense	1387				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	g.chr16:3832871C>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1387G>T	16.37:g.3832871C>A	ENSP00000262367:p.Gly463Trp					CREBBP_ENST00000382070.3_Missense_Mutation_p.G425W	p.G463W	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	6	2196	-		Ovarian(90;0.0266)	463					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.1387G>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202450	0.58234	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84442	-1.85;-1.77	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.92567	0.7639	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.986;0.999	D	0.92048	0.5646	10	0.87932	D	0	-19.9134	20.8794	0.99867	0.0:1.0:0.0:0.0	.	493;463	Q4LE28;Q92793	.;CBP_HUMAN	W	463;493;425	ENSP00000262367:G463W;ENSP00000371502:G425W	ENSP00000262367:G463W	G	-	1	0	CREBBP	3772872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.945000	0.63568	2.941000	0.99782	0.655000	0.94253	GGG		0.493	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		16	35	1	0	7.07596e-05	1	7.26534e-05	16	35					A	3832871	C	A	3832871	3	1	435	1	0	0	0	0	1	0	0	0	3861	681	24	5	6045	5	CREBBP	16	3832871	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25043	3832871	86521882	6782	27707											
ADCY9	115	broad.mit.edu	37	chr16	4016805	4016805	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgaagatccgcttccacGtctccgtggtagtggaggcg	6	9	15	11	5	1	2	0	1	1	1	4	3	3	3	3	4	0	2	3	4	2	2	rs369874673		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4016805G>A	ENST00000294016.3	-	11	3571	c.3033C>T	c.(3031-3033)gaC>gaT	p.D1011D		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1011					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCGCTTCCACGTCTCCGTGGT	0.572																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3031-3033)gaC>gaT		adenylate cyclase 9							123	112	116					16																	4016805		2197	4300	6497	SO:0001819	synonymous_variant	115				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	g.chr16:4016805G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3033C>T	16.37:g.4016805G>A							p.D1011D	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			11	3571	-			1011					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.3033C>T	CCDS32382.1																																																																																				0.572	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			35	59	0	0	0	1	0	35	59					A	4016805	G	A	4016805	2	1	435	1	0	0	0	0	0	0	0	1	301	1136	40	1		1	ADCY9	16	4016805	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	183934	4016805	86337948	6783	27708											
ADCY9	115	broad.mit.edu	37	chr16	4027606	4027606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcacgacggcaatcagcGcggccgagcctgtgaacact	10	5	13	13	5	1	1	1	1	0	0	1	3	1	1	2	2	4	2	2	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4027606G>A	ENST00000294016.3	-	9	3243	c.2705C>T	c.(2704-2706)gCg>gTg	p.A902V		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	902					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCAATCAGCGCGGCCGAGCC	0.662																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2704-2706)gCg>gTg		adenylate cyclase 9							36	32	33					16																	4027606		2194	4297	6491	SO:0001583	missense	115				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	g.chr16:4027606G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2705C>T	16.37:g.4027606G>A	ENSP00000294016:p.Ala902Val						p.A902V	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			9	3243	-			902					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.2705C>T	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	1.177	-0.639153	0.03557	.	.	ENSG00000162104	ENST00000294016	T	0.80653	-1.4	5.74	3.5	0.40072	.	0.914603	0.09535	N	0.789060	T	0.49064	0.1535	N	0.00841	-1.15	0.19575	N	0.999963	B	0.02656	0.0	B	0.01281	0.0	T	0.37549	-0.9701	10	0.05436	T	0.98	.	8.7666	0.34706	0.839:0.0:0.161:0.0	.	902	O60503	ADCY9_HUMAN	V	902	ENSP00000294016:A902V	ENSP00000294016:A902V	A	-	2	0	ADCY9	3967607	0.999000	0.42202	0.006000	0.13384	0.244000	0.25665	4.270000	0.58896	0.461000	0.27071	0.563000	0.77884	GCG		0.662	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			4	9	0	0	0	1	0	4	9					A	4027606	G	A	4027606	3	1	435	1	0	0	0	0	1	0	0	0	301	1087	38	1	1368	1	ADCY9	16	4027606	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10801	4027606	86327147	6784	27709											
ADCY9	115	broad.mit.edu	37	chr16	4164102	4164102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcgggacagcccgccaCgcagtagtaacagtctccca	9	5	12	15	3	1	0	0	0	1	0	3	1	1	1	3	2	2	4	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4164102C>T	ENST00000294016.3	-	2	1880	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	448	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CAGCCCGCCACGCAGTAGTAA	0.602																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1342-1344)Gtg>Atg		adenylate cyclase 9							81	88	86					16																	4164102		2197	4300	6497	SO:0001583	missense	115				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	g.chr16:4164102C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1342G>A	16.37:g.4164102C>T	ENSP00000294016:p.Val448Met						p.V448M	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	1880	-			448			Guanylate cyclase 1.		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.1342G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717724	0.68844	.	.	ENSG00000162104	ENST00000294016	D	0.82893	-1.66	5.28	5.28	0.74379	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.94132	0.8118	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95680	0.8731	10	0.87932	D	0	.	18.9505	0.92640	0.0:1.0:0.0:0.0	.	448	O60503	ADCY9_HUMAN	M	448	ENSP00000294016:V448M	ENSP00000294016:V448M	V	-	1	0	ADCY9	4104103	1.000000	0.71417	0.964000	0.40570	0.663000	0.39108	7.814000	0.86154	2.481000	0.83766	0.555000	0.69702	GTG		0.602	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			4	67	0	0	0	1	0	4	67					T	4164102	C	T	4164102	3	4	435	1	0	0	0	0	1	0	0	0	301	536	19	1	2759	1	ADCY9	16	4164102	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	136496	4164102	86190651	6785	27710											
CORO7	79585	broad.mit.edu	37	chr16	4407211	4407211	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttttcttccaggtactgCgctgaggatggggcccgacg	6	10	14	11	3	1	1	0	1	1	0	2	4	2	2	2	4	2	2	2	4	1	4	rs148065861		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4407211C>T	ENST00000251166.4	-	26	2788	c.2643G>A	c.(2641-2643)gcG>gcA	p.A881A	CORO7-PAM16_ENST00000572467.1_Silent_p.A881A|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000537233.2_Silent_p.A863A|PAM16_ENST00000576217.1_5'Flank|CORO7_ENST00000574025.1_Silent_p.A796A|CORO7_ENST00000539968.1_Silent_p.A661A	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	881					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCAGGTACTGCGCTGAGGATG	0.612																																						ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2641-2643)gcG>gcA		coronin 7		C	,,,	1,4393	2.1+/-5.4	0,1,2196	75	57	63		2589,2388,2643,2643	-10.5	0	16	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CORO7,CORO7-PAM16	NM_001201472.1,NM_001201473.1,NM_001201479.1,NM_024535.4	,,,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,,,	863/908,796/841,881/1049,881/926	4407211	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	79585							g.chr16:4407211C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2643G>A	16.37:g.4407211C>T						CORO7_ENST00000574025.1_Silent_p.A796A|CORO7_ENST00000539968.1_Silent_p.A661A|CORO7_ENST00000537233.2_Silent_p.A863A|CORO7-PAM16_ENST00000572467.1_Silent_p.A881A|CORO7-PAM16_ENST00000572274.1_5'UTR	p.A881A	NM_024535.4	NP_078811.3					26	2788	-								B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	c.2643G>A	CCDS10513.1																																																																																				0.612	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		9	21	0	0	0	1	0	9	21					T	4407211	C	T	4407211	2	4	435	1	0	0	0	0	0	0	0	1	3759	755	27	1		1	CORO7	16	4407211	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	243109	4407211	85947542	6786	27711											
CORO7	79585	broad.mit.edu	37	chr16	4410482	4410482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactccggggcctgtagaccCgcacacgcccatccttgcag	7	6	10	18	3	0	1	0	0	0	1	2	1	2	1	5	2	1	3	5	2	1	2	rs201929828		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4410482C>T	ENST00000251166.4	-	20	2130	c.1985G>A	c.(1984-1986)cGg>cAg	p.R662Q	CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R662Q|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000423908.2_3'UTR|CORO7_ENST00000537233.2_Missense_Mutation_p.R644Q|CORO7_ENST00000574025.1_Missense_Mutation_p.R577Q|CORO7_ENST00000539968.1_Missense_Mutation_p.R442Q	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	662					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCTGTAGACCCGCACACGCCC	0.652													C|||	1	0.000199681	8e-04	0	5008	,	,		15736	0		0	False		,,,				2504	0					ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(1984-1986)cGg>cAg		coronin 7							36	40	39					16																	4410482		2193	4297	6490	SO:0001583	missense	79585							g.chr16:4410482C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1985G>A	16.37:g.4410482C>T	ENSP00000251166:p.Arg662Gln					CORO7_ENST00000574025.1_Missense_Mutation_p.R577Q|CORO7_ENST00000539968.1_Missense_Mutation_p.R442Q|CORO7_ENST00000537233.2_Missense_Mutation_p.R644Q|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R662Q|CORO7_ENST00000423908.2_3'UTR	p.R662Q	NM_024535.4	NP_078811.3					20	2130	-								B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.1985G>A	CCDS10513.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	32	5.107602	0.94292	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.67865	-0.29;-0.29	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81721	0.4882	M	0.70903	2.155	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.995;0.999;1.0;0.999	D;P;P;D;D	0.87578	0.966;0.864;0.898;0.998;0.932	D	0.83900	0.0289	10	0.87932	D	0	-18.1388	18.2721	0.90071	0.0:1.0:0.0:0.0	.	577;644;442;662;643	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	Q	662;577;442	ENSP00000251166:R662Q;ENSP00000446221:R442Q	ENSP00000251166:R662Q	R	-	2	0	CORO7	4350483	1.000000	0.71417	0.994000	0.49952	0.480000	0.33159	6.999000	0.76283	2.412000	0.81896	0.462000	0.41574	CGG		0.652	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		4	7	0	0	0	1	0	4	7					T	4410482	C	T	4410482	3	4	435	1	0	0	0	0	1	0	0	0	3759	652	23	2	828	2	CORO7	16	4410482	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3271	4410482	85944271	6787	27712											
CORO7	79585	broad.mit.edu	37	chr16	4411454	4411454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgccgtgtcgggcaggCggccaggcttccgtagctgt	4	8	17	12	4	0	0	0	0	0	0	2	0	1	0	3	4	2	5	3	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4411454C>T	ENST00000251166.4	-	17	1740	c.1595G>A	c.(1594-1596)cGc>cAc	p.R532H	CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R532H|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000423908.2_3'UTR|CORO7_ENST00000537233.2_Missense_Mutation_p.R514H|CORO7_ENST00000574025.1_Missense_Mutation_p.R447H|CORO7_ENST00000539968.1_Missense_Mutation_p.R312H	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	532					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GTCGGGCAGGCGGCCAGGCTT	0.667																																						ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(1594-1596)cGc>cAc		coronin 7							43	45	45					16																	4411454		2196	4297	6493	SO:0001583	missense	79585							g.chr16:4411454C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1595G>A	16.37:g.4411454C>T	ENSP00000251166:p.Arg532His					CORO7_ENST00000574025.1_Missense_Mutation_p.R447H|CORO7_ENST00000539968.1_Missense_Mutation_p.R312H|CORO7_ENST00000537233.2_Missense_Mutation_p.R514H|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R532H|CORO7_ENST00000423908.2_3'UTR	p.R532H	NM_024535.4	NP_078811.3					17	1740	-								B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.1595G>A	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917255	0.73098	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.69306	-0.39;-0.39	5.11	5.11	0.69529	.	0.222920	0.36555	N	0.002540	D	0.84275	0.5436	M	0.87097	2.86	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;P;P;D;D	0.72075	0.976;0.791;0.877;0.925;0.911	D	0.87412	0.2376	10	0.87932	D	0	-16.8601	18.1341	0.89612	0.0:1.0:0.0:0.0	.	447;514;312;532;513	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	H	532;447;312	ENSP00000251166:R532H;ENSP00000446221:R312H	ENSP00000251166:R532H	R	-	2	0	CORO7	4351455	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	2.528000	0.45624	2.373000	0.80994	0.561000	0.74099	CGC		0.667	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		11	12	0	0	0	1	0	11	12					T	4411454	C	T	4411454	3	4	435	1	0	0	0	0	1	0	0	0	3759	768	27	1	1230	1	CORO7	16	4411454	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	972	4411454	85943299	6788	27713											
CORO7	79585	broad.mit.edu	37	chr16	4414863	4414863	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgcagctcatgacggccagCgcctgccggggcacaagggc	7	4	15	15	4	1	1	1	1	0	0	2	1	1	1	3	4	3	3	3	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4414863C>T	ENST00000251166.4	-	12	1102	c.957G>A	c.(955-957)gcG>gcA	p.A319A	CORO7-PAM16_ENST00000572467.1_Silent_p.A319A|CORO7_ENST00000423908.2_Silent_p.A151A|CORO7_ENST00000537233.2_Silent_p.A301A|CORO7_ENST00000574025.1_Silent_p.A234A|CORO7_ENST00000539968.1_Silent_p.A99A	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	319					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						TGACGGCCAGCGCCTGCCGGG	0.657																																						ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(955-957)gcG>gcA		coronin 7							31	26	28					16																	4414863		2193	4288	6481	SO:0001819	synonymous_variant	79585							g.chr16:4414863C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.957G>A	16.37:g.4414863C>T						CORO7_ENST00000574025.1_Silent_p.A234A|CORO7_ENST00000539968.1_Silent_p.A99A|CORO7_ENST00000537233.2_Silent_p.A301A|CORO7-PAM16_ENST00000572467.1_Silent_p.A319A|CORO7_ENST00000423908.2_Silent_p.A151A	p.A319A	NM_024535.4	NP_078811.3					12	1102	-								B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	c.957G>A	CCDS10513.1																																																																																				0.657	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		5	12	0	0	0	1	0	5	12					T	4414863	C	T	4414863	2	4	435	1	0	0	0	0	0	0	0	1	3759	755	27	1		1	CORO7	16	4414863	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3409	4414863	85939890	6789	27714											
FAM100A	124402	broad.mit.edu	37	chr16	4659782	4659782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtgggccccccgggggcGaggccgccgtgggccagctg	2	4	20	15	4	0	0	0	0	0	0	0	1	0	0	6	5	1	2	6	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4659782G>A	ENST00000283474.7	-	3	514	c.386C>T	c.(385-387)tCg>tTg	p.S129L	UBALD1_ENST00000591897.1_Missense_Mutation_p.S69L|UBALD1_ENST00000590965.1_3'UTR|UBALD1_ENST00000590891.1_Missense_Mutation_p.S164L|UBALD1_ENST00000587615.1_Missense_Mutation_p.S104L|UBALD1_ENST00000587649.1_3'UTR|UBALD1_ENST00000591401.1_Missense_Mutation_p.S108L	NM_145253.2	NP_660296.1	Q8TB05	UBAD1_HUMAN	UBA-like domain containing 1	129	Pro-rich.																CCCCGGGGGCGAGGCCGCCGT	0.741																																						ENST00000590891.1																			0											c.(490-492)tCg>tTg		UBA-like domain containing 1							7	11	10					16																	4659782		1986	4086	6072	SO:0001583	missense	124402							g.chr16:4659782G>A	BC025327	CCDS10518.1	16p13.3	2012-11-30	2012-11-30	2012-11-30	ENSG00000153443	ENSG00000153443			29576	protein-coding gene	gene with protein product			"family with sequence similarity 100, member A"	FAM100A			Standard	NM_145253		Approved		uc002cwx.2	Q8TB05	OTTHUMG00000129472	ENST00000283474.7:c.386C>T	16.37:g.4659782G>A	ENSP00000283474:p.Ser129Leu					UBALD1_ENST00000587615.1_Missense_Mutation_p.S104L|UBALD1_ENST00000591401.1_Missense_Mutation_p.S108L|UBALD1_ENST00000591897.1_Missense_Mutation_p.S69L|UBALD1_ENST00000590965.1_3'UTR|UBALD1_ENST00000587649.1_3'UTR|UBALD1_ENST00000283474.7_Missense_Mutation_p.S129L	p.S164L							1	1742	-								Q71MF6	Missense_Mutation	SNP	ENST00000283474.7	37	c.491C>T	CCDS10518.1	.	.	.	.	.	.	.	.	.	.	G	9.762	1.170259	0.21621	.	.	ENSG00000153443	ENST00000283474	.	.	.	4.11	3.1	0.35709	.	0.632167	0.15013	N	0.285476	T	0.46308	0.1386	L	0.38175	1.15	0.38389	D	0.945357	B;B	0.14438	0.01;0.01	B;B	0.08055	0.003;0.003	T	0.51903	-0.8646	9	0.52906	T	0.07	.	11.008	0.47646	0.0:0.1878:0.8122:0.0	.	69;129	D3DUE0;Q8TB05	.;F100A_HUMAN	L	129	.	ENSP00000283474:S129L	S	-	2	0	FAM100A	4599783	0.976000	0.34144	0.954000	0.39281	0.508000	0.34012	1.959000	0.40412	2.140000	0.66376	0.563000	0.77884	TCG		0.741	UBALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251635.2	NM_145253		5	6	0	0	0	1	0	5	6					A	4659782	G	A	4659782	3	1	435	1	0	0	0	0	1	0	0	0	5378	1059	37	2	151	2	FAM100A	16	4659782	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	244919	4659782	85694971	6790	27715											
NUDT16L1	84309	broad.mit.edu	37	chr16	4743810	4743810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggctggagccactcgtGccacgccatgctgtacgccg	5	6	14	16	5	0	0	0	0	0	0	1	1	0	1	5	2	4	3	5	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4743810G>A	ENST00000304301.6	+	1	116	c.83G>A	c.(82-84)tGc>tAc	p.C28Y	NUDT16L1_ENST00000586252.1_Missense_Mutation_p.C28Y|NUDT16L1_ENST00000586536.1_Missense_Mutation_p.C28Y|NUDT16L1_ENST00000405142.1_Missense_Mutation_p.C28Y	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	28						cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						AGCCACTCGTGCCACGCCATG	0.706																																						ENST00000405142.1																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(82-84)tGc>tAc		nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1							18	17	18					16																	4743810		2162	4273	6435	SO:0001583	missense	84309					cytoplasm	hydrolase activity	g.chr16:4743810G>A	BC006223	CCDS10519.1, CCDS59257.1	16p13.3	2008-02-05			ENSG00000168101	ENSG00000168101		"Nudix motif containing"	28154	protein-coding gene	gene with protein product						11805099	Standard	NM_032349		Approved	SDOS	uc002cxe.3	Q9BRJ7	OTTHUMG00000129471	ENST00000304301.6:c.83G>A	16.37:g.4743810G>A	ENSP00000306670:p.Cys28Tyr					NUDT16L1_ENST00000586536.1_Missense_Mutation_p.C28Y|NUDT16L1_ENST00000304301.6_Missense_Mutation_p.C28Y|NUDT16L1_ENST00000586252.1_Missense_Mutation_p.C28Y	p.C28Y			Q9BRJ7	SDOS_HUMAN			1	92	+			28					Q8NAI2	Missense_Mutation	SNP	ENST00000304301.6	37	c.83G>A	CCDS10519.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723374	0.48728	.	.	ENSG00000168101	ENST00000304301;ENST00000405142	T;T	0.72615	-0.67;-0.67	4.9	3.95	0.45737	NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.65249	0.2673	M	0.64404	1.975	0.51012	D	0.999908	P;B	0.37466	0.596;0.02	B;B	0.33454	0.164;0.005	T	0.68606	-0.5364	10	0.87932	D	0	.	11.9069	0.52717	0.0859:0.0:0.9141:0.0	.	28;28	Q9BRJ7-2;Q9BRJ7	.;SDOS_HUMAN	Y	28	ENSP00000306670:C28Y;ENSP00000458144:C28Y	ENSP00000306670:C28Y	C	+	2	0	NUDT16L1	4683811	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	4.081000	0.57627	1.078000	0.41014	-0.136000	0.14681	TGC		0.706	NUDT16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251634.1	NM_032349		7	4	0	0	0	1	0	7	4					A	4743810	G	A	4743810	3	1	435	1	0	0	0	0	1	0	0	0	10733	1319	46	3	85	3	NUDT16L1	16	4743810	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	84028	4743810	85610943	6791	27716											
GLYR1	84656	broad.mit.edu	37	chr16	4873895	4873895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttcacggtactagactccGggatggtgagatcctataga	10	10	11	10	2	1	3	1	1	0	3	3	5	3	4	3	3	1	1	3	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4873895G>A	ENST00000321919.9	-	6	627	c.551C>T	c.(550-552)cCg>cTg	p.P184L	GLYR1_ENST00000436648.5_Missense_Mutation_p.P103L|GLYR1_ENST00000591451.1_Missense_Mutation_p.P184L|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000381983.3_Missense_Mutation_p.P184L	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	184					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						ACTAGACTCCGGGATGGTGAG	0.537																																						ENST00000321919.9																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(550-552)cCg>cTg		glyoxylate reductase 1 homolog (Arabidopsis)							114	111	112					16																	4873895		2197	4300	6497	SO:0001583	missense	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4873895G>A	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"nuclear protein 60kDa"	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.551C>T	16.37:g.4873895G>A	ENSP00000322716:p.Pro184Leu					GLYR1_ENST00000436648.5_Missense_Mutation_p.P103L|GLYR1_ENST00000381983.3_Missense_Mutation_p.P184L|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000591451.1_Missense_Mutation_p.P184L	p.P184L	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN			6	627	-			184					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	c.551C>T	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791208	0.90367	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.69306	-0.27;-0.17;-0.39	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.72028	0.3410	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.89917	0.991;1.0;0.999;1.0	P;D;D;D	0.74023	0.526;0.946;0.921;0.982	T	0.75944	-0.3139	10	0.72032	D	0.01	-10.7628	18.3816	0.90453	0.0:0.0:1.0:0.0	.	103;184;184;184	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	L	184;184;103	ENSP00000322716:P184L;ENSP00000371413:P184L;ENSP00000390276:P103L	ENSP00000322716:P184L	P	-	2	0	GLYR1	4813896	1.000000	0.71417	0.700000	0.30305	0.934000	0.57294	7.212000	0.77941	2.703000	0.92315	0.591000	0.81541	CCG		0.537	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		22	67	0	0	0	1	0	22	67					A	4873895	G	A	4873895	3	1	435	1	0	0	0	0	1	0	0	0	6483	1116	39	2	1154	2	GLYR1	16	4873895	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	130085	4873895	85480858	6792	27717											
GLYR1	84656	broad.mit.edu	37	chr16	4882006	4882006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctttgggggccgaccccGcttccggggactttgctctt	3	12	12	14	3	1	0	0	0	1	0	3	2	3	1	5	4	1	2	5	4	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4882006G>A	ENST00000321919.9	-	5	587	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	GLYR1_ENST00000436648.5_Intron|GLYR1_ENST00000591451.1_Missense_Mutation_p.R171W|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000381983.3_Missense_Mutation_p.R171W	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	171					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.R171G(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						GGCCGACCCCGCTTCCGGGGA	0.498																																						ENST00000321919.9																			1	Substitution - Missense(1)	p.R171G(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(511-513)Cgg>Tgg		glyoxylate reductase 1 homolog (Arabidopsis)							49	54	52					16																	4882006		2197	4300	6497	SO:0001583	missense	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4882006G>A	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"nuclear protein 60kDa"	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.511C>T	16.37:g.4882006G>A	ENSP00000322716:p.Arg171Trp					GLYR1_ENST00000436648.5_Intron|GLYR1_ENST00000381983.3_Missense_Mutation_p.R171W|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000591451.1_Missense_Mutation_p.R171W	p.R171W	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN			5	587	-			171					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	c.511C>T	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422164	0.83559	.	.	ENSG00000140632	ENST00000321919;ENST00000381983	T;T	0.67523	-0.27;-0.25	5.29	5.29	0.74685	AT hook, DNA-binding motif (1);	0.243111	0.41194	D	0.000928	T	0.58538	0.2129	N	0.14661	0.345	0.52501	D	0.999954	D;D;D	0.67145	0.996;0.996;0.993	P;P;B	0.47573	0.55;0.55;0.348	T	0.66248	-0.5971	10	0.66056	D	0.02	-14.5991	18.0706	0.89405	0.0:0.0:1.0:0.0	.	171;171;171	Q49A26-3;Q49A26-2;Q49A26	.;.;GLYR1_HUMAN	W	171	ENSP00000322716:R171W;ENSP00000371413:R171W	ENSP00000322716:R171W	R	-	1	2	GLYR1	4822007	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.774000	0.75012	2.634000	0.89283	0.650000	0.86243	CGG		0.498	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		25	43	0	0	0	1	0	25	43					A	4882006	G	A	4882006	3	1	435	1	0	0	0	0	1	0	0	0	6483	1086	38	1	1198	1	GLYR1	16	4882006	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8111	4882006	85472747	6793	27718											
C16orf89	146556	broad.mit.edu	37	chr16	5097896	5097896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacctggaaattgtttttctCgcctcttcactctcctcgaa	7	16	5	13	2	4	0	1	0	3	0	7	2	4	1	3	1	1	1	3	1	3	5	rs532111292		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:5097896C>T	ENST00000315997.5	-	7	1139	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	C16orf89_ENST00000474471.3_Missense_Mutation_p.R345Q|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.R351Q|C16orf89_ENST00000350219.4_Missense_Mutation_p.R351Q|C16orf89_ENST00000472572.3_Missense_Mutation_p.R313Q	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	313						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						TTGTTTTTCTCGCCTCTTCAC	0.378																																						ENST00000315997.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(937-939)cGa>cAa		chromosome 16 open reading frame 89							83	73	76					16																	5097896		1812	4067	5879	SO:0001583	missense	146556					extracellular region		g.chr16:5097896C>T		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.938G>A	16.37:g.5097896C>T	ENSP00000324672:p.Arg313Gln					C16orf89_ENST00000422873.1_Missense_Mutation_p.R351Q|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000350219.4_Missense_Mutation_p.R351Q|C16orf89_ENST00000474471.3_Missense_Mutation_p.R345Q|C16orf89_ENST00000472572.3_Missense_Mutation_p.R313Q	p.R313Q	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN			7	1139	-			313					B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	c.938G>A	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664389	0.67700	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	4.81	2.83	0.33086	.	0.077097	0.49916	N	0.000122	T	0.49712	0.1573	M	0.77103	2.36	0.31195	N	0.700514	D;D	0.63046	0.992;0.99	B;P	0.46718	0.44;0.525	T	0.56565	-0.7958	10	0.30854	T	0.27	-12.0451	8.7638	0.34692	0.0:0.8187:0.0:0.1813	.	313;351	Q6UX73;G3V0F0	CP089_HUMAN;.	Q	345;313;313;351;351;345	ENSP00000417158:R345Q;ENSP00000420566:R313Q;ENSP00000390402:R351Q;ENSP00000283478:R351Q	ENSP00000324672:R345Q	R	-	2	0	C16orf89	5037897	0.999000	0.42202	0.997000	0.53966	0.992000	0.81027	0.960000	0.29253	0.537000	0.28751	0.561000	0.74099	CGA		0.378	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		24	55	0	0	0	1	0	24	55					T	5097896	C	T	5097896	3	4	435	1	0	0	0	0	1	0	0	0	1842	884	31	2	413	2	C16orf89	16	5097896	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	215890	5097896	85256857	6794	27719											
A2BP1	54715	broad.mit.edu	37	chr16	7568267	7568267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctcatccccaccccgCgccagagtacacaggccaga	9	3	9	20	2	1	2	1	0	0	2	2	2	2	2	8	2	1	1	8	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:7568267C>T	ENST00000550418.1	+	5	1134	c.146C>T	c.(145-147)gCg>gTg	p.A49V	RBFOX1_ENST00000547338.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A69V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A69V|RBFOX1_ENST00000340209.4_Missense_Mutation_p.A54V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A69V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A92V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A92V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A85V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A85V	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	49					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCCCACCCCGCGCCAGAGTAC	0.657																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(160-162)gCg>gTg		RNA binding protein, fox-1 homolog (C. elegans) 1							116	113	114					16																	7568267		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568267C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.146C>T	16.37:g.7568267C>T	ENSP00000450031:p.Ala49Val					RBFOX1_ENST00000436368.2_Missense_Mutation_p.A69V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A69V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A85V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A85V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A69V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A92V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A92V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A49V	p.A54V			Q9NWB1	RFOX1_HUMAN			2	458	+			49					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.161C>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044648	0.75732	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.35048	1.84;1.38;1.7;1.66;1.67;1.77;1.38;1.44;1.61;1.58;1.33	4.85	4.85	0.62838	.	0.296529	0.32244	N	0.006367	T	0.28532	0.0706	N	0.08118	0	0.44359	D	0.997252	P;D;P;P;B;D;B;B;D	0.62365	0.533;0.991;0.936;0.759;0.278;0.985;0.24;0.351;0.969	B;P;B;B;B;B;B;B;P	0.47891	0.091;0.481;0.173;0.245;0.157;0.352;0.065;0.109;0.56	T	0.23797	-1.0178	10	0.46703	T	0.11	-2.3794	17.9952	0.89181	0.0:1.0:0.0:0.0	.	69;85;92;69;69;69;49;49;92	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	V	49;49;49;92;92;85;85;49;49;69;69;69;69;54	ENSP00000450402:A49V;ENSP00000450031:A49V;ENSP00000447753:A49V;ENSP00000446842:A92V;ENSP00000391269:A92V;ENSP00000447281:A49V;ENSP00000447717:A49V;ENSP00000402745:A69V;ENSP00000309117:A69V;ENSP00000347855:A69V;ENSP00000344196:A54V	ENSP00000309117:A69V	A	+	2	0	RBFOX1	7508268	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.970000	0.76099	2.222000	0.72286	0.557000	0.71058	GCG		0.657	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		6	92	0	0	0	1	0	6	92					T	7568267	C	T	7568267	3	4	435	1	0	0	0	0	1	0	0	0	3	768	27	1	243	1	A2BP1	16	7568267	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2470371	7568267	82786486	6795	27720											
C16orf68	79091	broad.mit.edu	37	chr16	8722915	8722915	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctagcacaggaagaagaCgacgtcctgggagaggaagc	14	5	14	8	2	1	3	0	0	1	3	2	7	2	5	1	3	2	1	1	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:8722915C>T	ENST00000381920.3	+	3	720	c.462C>T	c.(460-462)gaC>gaT	p.D154D	METTL22_ENST00000561758.1_Silent_p.D98D	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	154						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						AGGAAGAAGACGACGTCCTGG	0.542																																						ENST00000381920.3																			0				large_intestine(5)|lung(4)	9						c.(460-462)gaC>gaT		methyltransferase like 22							228	237	234					16																	8722915		2087	4207	6294	SO:0001819	synonymous_variant	79091						methyltransferase activity	g.chr16:8722915C>T	AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"chromosome 16 open reading frame 68"	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.462C>T	16.37:g.8722915C>T						METTL22_ENST00000561758.1_Silent_p.D98D	p.D154D	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN			3	720	+			154					B2RD29|D3DUF2|Q6XYB4|Q9HA03	Silent	SNP	ENST00000381920.3	37	c.462C>T	CCDS10533.2																																																																																				0.542	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109		46	93	0	0	0	1	0	46	93					T	8722915	C	T	8722915	2	4	435	1	0	0	0	0	0	0	0	1	1827	535	19	1		1	C16orf68	16	8722915	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1154648	8722915	81631838	6796	27721											
ABAT	18	broad.mit.edu	37	chr16	8851662	8851662	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catccaacagcctcaaaatgCggtaggtcttggggttacac	11	9	10	11	1	2	0	1	0	1	0	3	0	3	0	2	4	4	2	2	4	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:8851662C>T	ENST00000396600.2	+	6	1303	c.365C>T	c.(364-366)gCg>gTg	p.A122V	ABAT_ENST00000268251.8_Splice_Site_p.A122V|ABAT_ENST00000425191.2_Splice_Site_p.A122V|ABAT_ENST00000569156.1_Splice_Site_p.A122V|ABAT_ENST00000567812.1_Splice_Site_p.A137V	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	122					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CCTCAAAATGCGGTAGGTCTT	0.473																																						ENST00000396600.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.e6+1		4-aminobutyrate aminotransferase	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)						118	99	105					16																	8851662		2197	4300	6497	SO:0001630	splice_region_variant	18				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	g.chr16:8851662C>T	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"4-aminobutyrate transaminase"	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.366+1C>T	16.37:g.8851662C>T						ABAT_ENST00000567812.1_Splice_Site_p.A137_splice|ABAT_ENST00000268251.8_Splice_Site_p.A122_splice|ABAT_ENST00000425191.2_Splice_Site_p.A122_splice|ABAT_ENST00000569156.1_Splice_Site_p.A122_splice	p.A122_splice	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN			6	1303	+			122					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Splice_Site	SNP	ENST00000396600.2	37	c.366_splice	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	C	0.503	-0.869831	0.02570	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	D;D;D	0.86432	-2.12;-2.12;-2.12	4.96	-0.368	0.12537	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.792828	0.11817	N	0.526634	T	0.70798	0.3265	N	0.17248	0.465	0.32936	D	0.517747	B	0.02656	0.0	B	0.04013	0.001	T	0.60772	-0.7197	10	0.02654	T	1	-10.077	8.2507	0.31715	0.0:0.4548:0.0:0.5452	.	122	P80404	GABT_HUMAN	V	122	ENSP00000268251:A122V;ENSP00000379845:A122V;ENSP00000411916:A122V	ENSP00000268251:A122V	A	+	2	0	ABAT	8759163	0.259000	0.24043	0.226000	0.23910	0.277000	0.26821	0.291000	0.18994	-0.375000	0.07955	-0.367000	0.07326	GCG		0.473	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686	Missense_Mutation	15	15	0	0	0	1	0	15	15					T	8851662	C	T	8851662	5	4	435	1	0	0	0	0	0	0	1	0	27	782	27	1	383	1	ABAT	16	8851662	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	128747	8851662	81503091	6797	27722											
USP7	7874	broad.mit.edu	37	chr16	8988926	8988926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgggattccgaacgttcCgaagacctctttgtggaaat	12	10	10	9	4	1	1	0	0	1	1	3	5	3	3	3	2	2	1	3	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:8988926C>T	ENST00000344836.4	-	28	3199	c.3001G>A	c.(3001-3003)Gga>Aga	p.G1001R	USP7_ENST00000381886.4_Missense_Mutation_p.G985R|USP7_ENST00000535863.1_Missense_Mutation_p.G902R	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	1001					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			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						CCGAACGTTCCGAAGACCTCT	0.527																																						ENST00000344836.4																			0				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						c.(3001-3003)Gga>Aga		ubiquitin specific peptidase 7 (herpes virus-associated)							252	232	239					16																	8988926		2197	4300	6497	SO:0001583	missense	7874				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	g.chr16:8988926C>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.3001G>A	16.37:g.8988926C>T	ENSP00000343535:p.Gly1001Arg					USP7_ENST00000381886.4_Missense_Mutation_p.G985R|USP7_ENST00000535863.1_Missense_Mutation_p.G902R	p.G1001R	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			28	3199	-			1001					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.3001G>A	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821940	0.50633	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	T;T	0.05319	3.46;3.46	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.02888	0.0086	N	0.03050	-0.425	0.80722	D	1	B;B	0.30605	0.287;0.145	B;B	0.17979	0.02;0.02	T	0.47484	-0.9114	10	0.06757	T	0.87	.	19.4254	0.94740	0.0:1.0:0.0:0.0	.	1001;985	Q93009;B7Z815	UBP7_HUMAN;.	R	1001;1009;902	ENSP00000343535:G1001R;ENSP00000443646:G902R	ENSP00000343535:G1001R	G	-	1	0	USP7	8896427	1.000000	0.71417	0.948000	0.38648	0.905000	0.53344	7.700000	0.84556	2.598000	0.87819	0.484000	0.47621	GGA		0.527	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			78	119	0	0	0	1	0	78	119					T	8988926	C	T	8988926	3	4	435	1	0	0	0	0	1	0	0	0	17085	661	23	2	323	2	USP7	16	8988926	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	137264	8988926	81365827	6798	27723											
USP7	7874	broad.mit.edu	37	chr16	9017178	9017178	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcttccatggcagatttcGcacaaaacacggagggctaa	14	8	9	10	2	1	1	0	0	1	1	3	2	2	2	1	3	1	3	1	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:9017178G>A	ENST00000344836.4	-	3	475	c.277C>T	c.(277-279)Cga>Tga	p.R93*	USP7_ENST00000566224.1_5'UTR|USP7_ENST00000381886.4_Nonsense_Mutation_p.R77*|USP7_ENST00000535863.1_5'UTR	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	93	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Necessary for nuclear localization.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			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						GGCAGATTTCGCACAAAACAC	0.498																																						ENST00000344836.4																			0				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						c.(277-279)Cga>Tga		ubiquitin specific peptidase 7 (herpes virus-associated)							143	129	134					16																	9017178		2197	4300	6497	SO:0001587	stop_gained	7874				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	g.chr16:9017178G>A	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.277C>T	16.37:g.9017178G>A	ENSP00000343535:p.Arg93*					USP7_ENST00000381886.4_Nonsense_Mutation_p.R77*|USP7_ENST00000566224.1_5'UTR|USP7_ENST00000535863.1_5'UTR	p.R93*	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			3	475	-			93			Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.		A6NMY8|B7Z815|H0Y3G8	Nonsense_Mutation	SNP	ENST00000344836.4	37	c.277C>T	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389677	0.95988	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000542333	.	.	.	5.57	5.57	0.84162	.	0.055816	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	19.9295	0.97114	0.0:0.0:1.0:0.0	.	.	.	.	X	93;101;35	.	ENSP00000343535:R93X	R	-	1	2	USP7	8924679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.158000	0.71851	2.793000	0.96121	0.655000	0.94253	CGA		0.498	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			17	41	0	0	0	1	0	17	41					A	9017178	G	A	9017178	4	1	435	1	0	0	0	0	0	1	0	0	17085	1095	38	1	3147	1	USP7	16	9017178	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28252	9017178	81337575	6799	27724											
USP7	7874	broad.mit.edu	37	chr16	9017192	9017192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatttcgcacaaaacacggaGggctaaggaccgactcactc	13	6	10	12	3	1	0	1	0	0	0	3	4	1	2	1	3	1	2	1	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:9017192G>T	ENST00000344836.4	-	3	461	c.263C>A	c.(262-264)cCt>cAt	p.P88H	USP7_ENST00000566224.1_5'UTR|USP7_ENST00000381886.4_Missense_Mutation_p.P72H|USP7_ENST00000535863.1_5'UTR	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	88	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Necessary for nuclear localization.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			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						AAAACACGGAGGGCTAAGGAC	0.493																																						ENST00000344836.4																			0				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						c.(262-264)cCt>cAt		ubiquitin specific peptidase 7 (herpes virus-associated)							131	117	122					16																	9017192		2197	4300	6497	SO:0001583	missense	7874				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	g.chr16:9017192G>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.263C>A	16.37:g.9017192G>T	ENSP00000343535:p.Pro88His					USP7_ENST00000381886.4_Missense_Mutation_p.P72H|USP7_ENST00000566224.1_5'UTR|USP7_ENST00000535863.1_5'UTR	p.P88H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			3	461	-			88			Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.263C>A	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521969	0.96416	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000542333	T;T	0.69040	-0.37;-0.37	5.57	5.57	0.84162	TRAF-like (1);MATH (3);	0.091173	0.85682	D	0.000000	T	0.76183	0.3952	L	0.52573	1.65	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.57776	0.827;0.827	T	0.77003	-0.2749	10	0.66056	D	0.02	.	19.9295	0.97114	0.0:0.0:1.0:0.0	.	88;72	Q93009;B7Z815	UBP7_HUMAN;.	H	88;96;30	ENSP00000343535:P88H;ENSP00000439272:P30H	ENSP00000343535:P88H	P	-	2	0	USP7	8924693	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.649000	0.98487	2.793000	0.96121	0.655000	0.94253	CCT		0.493	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			17	39	1	0	3.41278e-10	1	3.64137e-10	17	39					T	9017192	G	T	9017192	3	4	435	1	0	0	0	0	1	0	0	0	17085	1000	35	5	3161	5	USP7	16	9017192	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14	9017192	81337561	6800	27725											
C16orf72	29035	broad.mit.edu	37	chr16	9210616	9210616	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggatcgaatgctagtcgaagGagaaatggactccatgatgt	13	9	13	6	2	0	2	0	1	0	1	3	7	1	4	1	3	1	1	1	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:9210616G>A	ENST00000327827.7	+	4	1072	c.675G>A	c.(673-675)agG>agA	p.R225R		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	225										endometrium(4)|large_intestine(2)|lung(2)	8						CTAGTCGAAGGAGAAATGGAC	0.473																																						ENST00000327827.7																			0				endometrium(4)|large_intestine(2)|lung(2)	8						c.(673-675)agG>agA		chromosome 16 open reading frame 72							182	161	168					16																	9210616		2197	4300	6497	SO:0001819	synonymous_variant	29035							g.chr16:9210616G>A	AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.675G>A	16.37:g.9210616G>A							p.R225R	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN			4	1072	+			225						Silent	SNP	ENST00000327827.7	37	c.675G>A	CCDS10538.1																																																																																				0.473	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117		35	61	0	0	0	1	0	35	61					A	9210616	G	A	9210616	2	1	435	1	0	0	0	0	0	0	0	1	1831	1165	41	3		3	C16orf72	16	9210616	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	193424	9210616	81144137	6801	27726											
GRIN2A	2903	broad.mit.edu	37	chr16	9858384	9858384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgccggggtctagagttcGctttggattctgtgctcacg	4	13	14	10	3	3	1	1	0	2	1	4	2	3	2	1	3	2	4	1	3	1	4	rs200526162		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:9858384G>A	ENST00000396573.2	-	14	3326	c.3017C>T	c.(3016-3018)gCg>gTg	p.A1006V	GRIN2A_ENST00000404927.2_Missense_Mutation_p.A1006V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A1006V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A1006V|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A1006V|GRIN2A_ENST00000535259.1_Missense_Mutation_p.A849V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1006					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTAGAGTTCGCTTTGGATTC	0.507													A|||	1	0.000199681	0	0	5008	,	,		17591	0.001		0	False		,,,				2504	0					ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3016-3018)gCg>gTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						93	92	92					16																	9858384		2197	4300	6497	SO:0001583	missense	0				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	g.chr16:9858384G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3017C>T	16.37:g.9858384G>A	ENSP00000379818:p.Ala1006Val					GRIN2A_ENST00000330684.3_Missense_Mutation_p.A1006V|GRIN2A_ENST00000535259.1_Missense_Mutation_p.A849V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A1006V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A1006V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A1006V	p.A1006V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3326	-			1006					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3017C>T	CCDS10539.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	0.089	-1.170997	0.01660	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88	5.33	-0.758	0.11049	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.900640	0.09924	N	0.738120	T	0.03434	0.0099	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.11235	0.001;0.004;0.0	B;B;B	0.09377	0.002;0.004;0.0	T	0.46275	-0.9203	9	.	.	.	.	12.7121	0.57096	0.2898:0.1644:0.5459:0.0	.	849;1006;1006	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	V	1006;1006;849;1006;1006	ENSP00000379818:A1006V;ENSP00000385872:A1006V;ENSP00000441572:A849V;ENSP00000332549:A1006V;ENSP00000379820:A1006V	.	A	-	2	0	GRIN2A	9765885	0.013000	0.17824	0.276000	0.24689	0.156000	0.22039	0.223000	0.17719	-0.290000	0.09025	-0.960000	0.02634	GCG		0.507	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			29	40	0	0	0	1	0	29	40					A	9858384	G	A	9858384	3	1	435	1	0	0	0	0	1	0	0	0	6779	1087	38	1	1381	1	GRIN2A	16	9858384	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	647768	9858384	80496369	6802	27727											
ATF7IP2	80063	broad.mit.edu	37	chr16	10524604	10524604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcgctgaaaacagcaattGggagtaatgttccaagcggt	14	8	12	7	2	0	1	0	1	0	0	1	2	1	2	1	2	4	4	1	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:10524604G>A	ENST00000396560.2	+	3	354	c.127G>A	c.(127-129)Ggg>Agg	p.G43R	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.G43R|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.G43R|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.G43R	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	43					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						AACAGCAATTGGGAGTAATGT	0.418																																						ENST00000396560.2																			0				large_intestine(3)	3						c.(127-129)Ggg>Agg		activating transcription factor 7 interacting protein 2							76	72	73					16																	10524604		2197	4300	6497	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10524604G>A	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.127G>A	16.37:g.10524604G>A	ENSP00000379808:p.Gly43Arg					ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.G43R|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.G43R|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.G43R	p.G43R	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN			3	354	+			43					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.127G>A	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	8.940	0.965604	0.18583	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T	0.39592	1.95;1.07;1.95	5.25	0.774	0.18521	.	1.554780	0.04051	N	0.304703	T	0.29158	0.0725	N	0.25647	0.755	0.09310	N	1	B;B	0.27351	0.053;0.176	B;B	0.24541	0.037;0.054	T	0.25328	-1.0135	10	0.44086	T	0.13	-1.0E-4	4.3676	0.11232	0.2844:0.1676:0.548:0.0	.	43;43	Q5U623-2;Q5U623	.;MCAF2_HUMAN	R	43	ENSP00000379808:G43R;ENSP00000440791:G43R;ENSP00000348799:G43R	ENSP00000322811:G43R	G	+	1	0	ATF7IP2	10432105	0.300000	0.24435	0.201000	0.23476	0.602000	0.36980	1.008000	0.29872	0.608000	0.30000	0.467000	0.42956	GGG		0.418	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		27	39	0	0	0	1	0	27	39					A	10524604	G	A	10524604	3	1	435	1	0	0	0	0	1	0	0	0	1088	1348	47	3	129	3	ATF7IP2	16	10524604	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	666220	10524604	79830149	6803	27728											
TEKT5	146279	broad.mit.edu	37	chr16	10769939	10769939	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaaggtctcaaagaggtgCtccgcctcctcccgcagctg	8	7	11	15	2	1	1	1	0	1	1	5	2	4	1	4	2	2	3	4	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:10769939C>A	ENST00000283025.2	-	5	1034	c.963G>T	c.(961-963)gaG>gaT	p.E321D		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	321						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CAAAGAGGTGCTCCGCCTCCT	0.552																																						ENST00000283025.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(961-963)gaG>gaT		tektin 5							144	120	129					16																	10769939		2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10769939C>A		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.963G>T	16.37:g.10769939C>A	ENSP00000283025:p.Glu321Asp						p.E321D	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN			5	1034	-			321					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.963G>T	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	C	9.701	1.154452	0.21371	.	.	ENSG00000153060	ENST00000283025	T	0.02236	4.38	4.68	0.103	0.14526	.	0.325530	0.25944	N	0.027297	T	0.00967	0.0032	N	0.04959	-0.14	0.46437	D	0.999048	B	0.06786	0.001	B	0.15052	0.012	T	0.51818	-0.8657	10	0.09843	T	0.71	-20.6429	3.6556	0.08220	0.1341:0.5772:0.1305:0.1582	.	321	Q96M29	TEKT5_HUMAN	D	321	ENSP00000283025:E321D	ENSP00000283025:E321D	E	-	3	2	TEKT5	10677440	0.970000	0.33590	0.915000	0.36163	0.619000	0.37552	0.538000	0.23160	0.157000	0.19338	-1.092000	0.02172	GAG		0.552	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		12	74	1	0	4.3838e-07	1	4.58243e-07	12	74					A	10769939	C	A	10769939	3	1	435	1	0	0	0	0	1	0	0	0	15753	796	28	5	506	5	TEKT5	16	10769939	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	245335	10769939	79584814	6804	27729											
NUBP1	4682	broad.mit.edu	37	chr16	10841067	10841067	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtattgtctgggaaaggCggtgttgggaaaagcacatt	10	12	15	4	1	1	0	0	0	1	0	1	2	1	2	0	5	1	3	0	5	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:10841067C>T	ENST00000283027.5	+	3	211	c.192C>T	c.(190-192)ggC>ggT	p.G64G	NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Silent_p.G64G	NM_002484.2	NP_002475.2			nucleotide binding protein 1											large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						CTGGGAAAGGCGGTGTTGGGA	0.463																																						ENST00000283027.5																			0				large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						c.(190-192)ggC>ggT		nucleotide binding protein 1							126	128	128					16																	10841067		2197	4300	6497	SO:0001819	synonymous_variant	4682				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	g.chr16:10841067C>T	U01833	CCDS10543.1, CCDS61839.1	16p13.13	2014-01-13	2011-05-19		ENSG00000103274	ENSG00000103274			8041	protein-coding gene	gene with protein product		600280	"nucleotide binding protein 1 (E.coli MinD like)", "nucleotide binding protein 1 (MinD homolog, E. coli)"	NBP1		7926816	Standard	NM_002484		Approved	NBP35	uc002daa.1	P53384	OTTHUMG00000129751	ENST00000283027.5:c.192C>T	16.37:g.10841067C>T						NUBP1_ENST00000433392.2_Silent_p.G64G|NUBP1_ENST00000571790.1_3'UTR	p.G64G	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN			3	211	+			64						Silent	SNP	ENST00000283027.5	37	c.192C>T	CCDS10543.1																																																																																				0.463	NUBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251964.2	NM_002484		23	37	0	0	0	1	0	23	37					T	10841067	C	T	10841067	2	4	435	1	0	0	0	0	0	0	0	1	10715	755	27	1		1	NUBP1	16	10841067	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	71128	10841067	79513686	6805	27730											
CIITA	4261	broad.mit.edu	37	chr16	10989172	10989172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccaccatggagttggggcCcctagaaggtggctacctgg	7	8	15	11	0	0	1	0	0	0	1	0	2	0	2	5	6	2	2	5	6	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:10989172C>A	ENST00000324288.8	+	2	219	c.86C>A	c.(85-87)cCc>cAc	p.P29H	CIITA_ENST00000381835.5_Missense_Mutation_p.P29H|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	29					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GAGTTGGGGCCCCTAGAAGGT	0.542			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"class II, major histocompatibility complex, transactivator"			L	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"		"PMBL, Hodgkin Lymphona, "		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(85-87)cCc>cAc		class II, major histocompatibility complex, transactivator							72	67	69					16																	10989172		2197	4300	6497	SO:0001583	missense	4261				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	g.chr16:10989172C>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.86C>A	16.37:g.10989172C>A	ENSP00000316328:p.Pro29His					CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.P29H	p.P29H	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			2	219	+			29					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.86C>A	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	9.755	1.168628	0.21621	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.75367	-0.93;1.47	4.18	3.22	0.36961	.	0.361515	0.20102	N	0.099201	T	0.79569	0.4468	L	0.50333	1.59	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;0.983;0.999;0.999;0.999;1.0	D;P;D;D;D;D	0.70487	0.969;0.536;0.935;0.935;0.955;0.931	T	0.68138	-0.5488	10	0.87932	D	0	.	8.0912	0.30801	0.0:0.8848:0.0:0.1152	.	29;29;29;29;29;29	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	H	29	ENSP00000316328:P29H;ENSP00000371257:P29H	ENSP00000316328:P29H	P	+	2	0	CIITA	10896673	0.001000	0.12720	0.084000	0.20598	0.034000	0.12701	1.280000	0.33202	0.877000	0.35895	0.462000	0.41574	CCC		0.542	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		11	25	1	0	7.03913e-09	1	7.44699e-09	11	25					A	10989172	C	A	10989172	3	1	435	1	0	0	0	0	1	0	0	0	3428	623	22	5	92	5	CIITA	16	10989172	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	148105	10989172	79365581	6806	27731											
CIITA	4261	broad.mit.edu	37	chr16	11000826	11000826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcttgaagagacctgacCgcgttctgctcatcctagac	10	10	8	13	2	3	4	1	2	2	2	4	5	4	4	3	0	1	2	3	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:11000826C>T	ENST00000324288.8	+	11	1610	c.1477C>T	c.(1477-1479)Cgc>Tgc	p.R493C	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	493	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GAGACCTGACCGCGTTCTGCT	0.642			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"class II, major histocompatibility complex, transactivator"			L	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"		"PMBL, Hodgkin Lymphona, "		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(1477-1479)Cgc>Tgc		class II, major histocompatibility complex, transactivator							75	78	77					16																	11000826		2197	4300	6497	SO:0001583	missense	4261				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	g.chr16:11000826C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1477C>T	16.37:g.11000826C>T	ENSP00000316328:p.Arg493Cys					CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	p.R493C	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			11	1610	+			493			NACHT.		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.1477C>T	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.730095	0.30684	.	.	ENSG00000179583	ENST00000324288;ENST00000388910	D	0.83914	-1.78	5.27	5.27	0.74061	NACHT nucleoside triphosphatase (1);	0.112108	0.40222	N	0.001149	D	0.91253	0.7243	M	0.87682	2.9	0.22819	N	0.998691	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.985;0.993;0.999	D	0.85052	0.0929	10	0.87932	D	0	.	11.437	0.50074	0.2822:0.7178:0.0:0.0	.	493;493;445;493	A0N0N9;P33076;F2Z2G8;Q96KL4	.;C2TA_HUMAN;.;.	C	493;445	ENSP00000316328:R493C	ENSP00000316328:R493C	R	+	1	0	CIITA	10908327	0.968000	0.33430	0.061000	0.19648	0.063000	0.16089	2.726000	0.47302	2.442000	0.82660	0.561000	0.74099	CGC		0.642	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		38	53	0	0	0	1	0	38	53					T	11000826	C	T	11000826	3	4	435	1	0	0	0	0	1	0	0	0	3428	652	23	2	1519	2	CIITA	16	11000826	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11654	11000826	79353927	6807	27732											
CLEC16A	23274	broad.mit.edu	37	chr16	11063092	11063092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttctgatgaggagattatgGcctattatatatcgttcctg	9	17	9	6	1	1	3	0	2	1	1	3	4	2	3	2	2	0	1	2	2	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:11063092G>A	ENST00000409790.1	+	4	648	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	CLEC16A_ENST00000409552.3_Missense_Mutation_p.A140T	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGAGATTATGGCCTATTATAT	0.348																																						ENST00000409790.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(418-420)Gcc>Acc		C-type lectin domain family 16, member A							107	98	101					16																	11063092		1839	4078	5917	SO:0001583	missense	23274							g.chr16:11063092G>A	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.418G>A	16.37:g.11063092G>A	ENSP00000387122:p.Ala140Thr					CLEC16A_ENST00000409552.3_Missense_Mutation_p.A140T	p.A140T	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			4	648	+			140						Missense_Mutation	SNP	ENST00000409790.1	37	c.418G>A	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	34	5.356048	0.95854	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.51071	0.72	5.49	5.49	0.81192	.	0.049866	0.85682	D	0.000000	T	0.66858	0.2832	M	0.70275	2.135	0.80722	D	1	D;P	0.56287	0.975;0.933	P;P	0.61592	0.891;0.597	T	0.68247	-0.5459	10	0.56958	D	0.05	-14.4146	18.3811	0.90451	0.0:0.0:1.0:0.0	.	140;140	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	T	140	ENSP00000387122:A140T	ENSP00000386495:A140T	A	+	1	0	CLEC16A	10970593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.583000	0.87209	0.655000	0.94253	GCC		0.348	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		15	22	0	0	0	1	0	15	22					A	11063092	G	A	11063092	3	1	435	1	0	0	0	0	1	0	0	0	3500	1203	42	3	432	3	CLEC16A	16	11063092	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62266	11063092	79291661	6808	27733											
CLEC16A	23274	broad.mit.edu	37	chr16	11118704	11118704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggatatggtgtaccacgCgctggacagcccggatgatg	8	8	14	11	3	0	1	0	1	0	0	0	4	0	4	3	4	2	2	3	4	2	2	rs201921390		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:11118704C>T	ENST00000409790.1	+	13	1693	c.1463C>T	c.(1462-1464)gCg>gTg	p.A488V	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.A470V	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTGTACCACGCGCTGGACAGC	0.537																																						ENST00000409790.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1462-1464)gCg>gTg		C-type lectin domain family 16, member A		C	VAL/ALA	0,4210		0,0,2105	79	82	81		1463	5.3	1	16		81	1,8459		0,1,4229	no	missense	CLEC16A	NM_015226.2	64	0,1,6334	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	488/1054	11118704	1,12669	2105	4230	6335	SO:0001583	missense	23274							g.chr16:11118704C>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1463C>T	16.37:g.11118704C>T	ENSP00000387122:p.Ala488Val					CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.A470V	p.A488V	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			13	1693	+			488						Missense_Mutation	SNP	ENST00000409790.1	37	c.1463C>T	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530052	0.85706	0.0	1.18E-4	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.52983	0.64	5.33	5.33	0.75918	.	0.143147	0.64402	D	0.000005	T	0.50257	0.1605	M	0.73962	2.25	0.80722	D	1	D;P	0.53745	0.962;0.931	B;B	0.42062	0.348;0.374	T	0.57694	-0.7767	10	0.49607	T	0.09	-25.6548	14.9033	0.70696	0.0:1.0:0.0:0.0	.	488;470	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	V	488;488;470	ENSP00000387122:A488V	ENSP00000386495:A470V	A	+	2	0	CLEC16A	11026205	1.000000	0.71417	0.998000	0.56505	0.859000	0.49053	6.690000	0.74567	2.652000	0.90054	0.655000	0.94253	GCG		0.537	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		3	9	0	0	0	1	0	3	9					T	11118704	C	T	11118704	3	4	435	1	0	0	0	0	1	0	0	0	3500	768	27	1	1509	1	CLEC16A	16	11118704	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	55612	11118704	79236049	6809	27734											
CLEC16A	23274	broad.mit.edu	37	chr16	11217764	11217764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgcctggccaaaggcCgcatccaggcaaggcgcatg	10	3	14	14	3	0	0	0	0	0	0	1	0	1	0	4	4	2	4	4	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:11217764C>T	ENST00000409790.1	+	21	2664	c.2434C>T	c.(2434-2436)Cgc>Tgc	p.R812C	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000381822.2_5'Flank|CLEC16A_ENST00000409552.3_Missense_Mutation_p.R794C	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGCCAAAGGCCGCATCCAGGC	0.602																																						ENST00000409790.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2434-2436)Cgc>Tgc		C-type lectin domain family 16, member A							34	37	36					16																	11217764		2093	4224	6317	SO:0001583	missense	23274							g.chr16:11217764C>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2434C>T	16.37:g.11217764C>T	ENSP00000387122:p.Arg812Cys					CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.R794C	p.R812C	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			21	2664	+			812						Missense_Mutation	SNP	ENST00000409790.1	37	c.2434C>T	CCDS45409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.213107|5.213107	0.95069|0.95069	.|.	.|.	ENSG00000038532|ENSG00000038532	ENST00000261657|ENST00000409790;ENST00000542102;ENST00000409552;ENST00000436973	.|T	.|0.61980	.|0.06	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81664|0.81664	0.4870|0.4870	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.995;0.997	D|D	0.84009|0.84009	0.0347|0.0347	5|10	.|0.87932	.|D	.|0	-23.0326|-23.0326	18.5026|18.5026	0.90887|0.90887	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|812;794	.|Q2KHT3;Q2KHT3-2	.|CL16A_HUMAN;.	L|C	3|812;812;794;5	.|ENSP00000387122:R812C	.|ENSP00000386495:R794C	P|R	+|+	2|1	0|0	CLEC16A|CLEC16A	11125265|11125265	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.838000|5.838000	0.69388|0.69388	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.602	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		13	9	0	0	0	1	0	13	9					T	11217764	C	T	11217764	3	4	435	1	0	0	0	0	1	0	0	0	3500	652	23	2	2512	2	CLEC16A	16	11217764	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	99060	11217764	79136989	6810	27735											
PRM1	5619	broad.mit.edu	37	chr16	11374865	11374865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaattagtgtcttctacatCgcggtctgtacctggggcgg	6	12	13	10	3	3	0	0	0	3	0	4	0	3	0	1	4	2	2	1	4	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:11374865C>T	ENST00000312511.3	-	2	251	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	RMI2_ENST00000572173.1_Intron	NM_002761.2	NP_002752.1	P04553	HSP1_HUMAN	protamine 1	47					cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)	DNA binding (GO:0003677)	p.0?(1)		large_intestine(2)|skin(2)	4						TCTTCTACATCGCGGTCTGTA	0.547																																						ENST00000312511.3																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	large_intestine(2)|skin(2)	4						c.(139-141)cGa>cAa		protamine 1							251	254	253					16																	11374865		2197	4300	6497	SO:0001583	missense	5619				chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	g.chr16:11374865C>T		CCDS10547.1	16p13.2	2009-08-06			ENSG00000175646	ENSG00000175646			9447	protein-coding gene	gene with protein product	"cancer/testis antigen family 94, member 1"	182880					Standard	NM_002761		Approved	CT94.1	uc002dav.3	P04553	OTTHUMG00000090521	ENST00000312511.3:c.140G>A	16.37:g.11374865C>T	ENSP00000310515:p.Arg47Gln					RMI2_ENST00000572173.1_Intron	p.R47Q	NM_002761.2	NP_002752.1	P04553	HSP1_HUMAN			2	251	-			47						Missense_Mutation	SNP	ENST00000312511.3	37	c.140G>A	CCDS10547.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.257229	0.22965	.	.	ENSG00000175646	ENST00000312511	.	.	.	4.69	2.74	0.32292	.	0.190288	0.26769	N	0.022595	T	0.27594	0.0678	.	.	.	0.09310	N	1	P	0.41498	0.752	B	0.39185	0.293	T	0.16276	-1.0408	8	0.87932	D	0	-4.8682	6.361	0.21429	0.0:0.7155:0.1853:0.0992	.	47	P04553	HSP1_HUMAN	Q	47	.	ENSP00000310515:R47Q	R	-	2	0	PRM1	11282366	0.009000	0.17119	0.002000	0.10522	0.002000	0.02628	1.690000	0.37711	0.599000	0.29845	-0.234000	0.12200	CGA		0.547	PRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207010.1			63	112	0	0	0	1	0	63	112					T	11374865	C	T	11374865	3	4	435	1	0	0	0	0	1	0	0	0	12532	884	31	2	19	2	PRM1	16	11374865	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	157101	11374865	78979888	6811	27736											
PARN	5073	broad.mit.edu	37	chr16	14693776	14693776	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccgaattagcaatggcGtgaatgactctagaaaatcc	14	10	8	9	2	1	3	0	2	1	1	2	4	2	3	2	1	2	1	2	1	8	3	rs374114285		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:14693776G>A	ENST00000437198.2	-	12	966	c.825C>T	c.(823-825)caC>caT	p.H275H	RN7SL274P_ENST00000492268.2_RNA|PARN_ENST00000341484.7_Silent_p.H214H|PARN_ENST00000420015.2_Silent_p.H229H|PARN_ENST00000539279.1_Silent_p.H100H	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	275					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TAGCAATGGCGTGAATGACTC	0.313													G|||	1	0.000199681	8e-04	0	5008	,	,		17669	0		0	False		,,,				2504	0					ENST00000437198.2																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						c.(823-825)caC>caT		poly(A)-specific ribonuclease		G	,	6,3666		0,6,1830	122	111	114		642,825	-1.3	1	16		114	5,8169		0,5,4082	no	coding-synonymous,coding-synonymous	PARN	NM_001134477.2,NM_002582.3	,	0,11,5912	AA,AG,GG		0.0612,0.1634,0.0929	,	214/579,275/640	14693776	11,11835	1836	4087	5923	SO:0001819	synonymous_variant	5073				female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	g.chr16:14693776G>A	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"deadenylation nuclease"	604212	"poly(A)-specific ribonuclease (deadenylation nuclease)"			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.825C>T	16.37:g.14693776G>A						PARN_ENST00000539279.1_Silent_p.H100H|PARN_ENST00000420015.2_Silent_p.H229H|PARN_ENST00000341484.7_Silent_p.H214H	p.H275H	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN			12	966	-			275					B2RCB3|B4DDG8|B4DWR4|B4E1H6	Silent	SNP	ENST00000437198.2	37	c.825C>T	CCDS45419.1																																																																																				0.313	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582		18	26	0	0	0	1	0	18	26					A	14693776	G	A	14693776	2	1	435	1	0	0	0	0	0	0	0	1	11453	1136	40	1		1	PARN	16	14693776	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3318911	14693776	75660977	6812	27737											
KIAA0430	9665	broad.mit.edu	37	chr16	15690732	15690732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagctggagtcagaggtcaGagttttgctctttcctggta	7	13	13	8	1	3	2	2	0	1	2	4	4	4	3	1	3	2	4	1	3	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:15690732G>T	ENST00000396368.3	-	27	5253	c.5047C>A	c.(5047-5049)Ctg>Atg	p.L1683M	KIAA0430_ENST00000540441.2_Missense_Mutation_p.L1518M|KIAA0430_ENST00000548025.1_Missense_Mutation_p.L1680M|KIAA0430_ENST00000602337.1_Missense_Mutation_p.L1680M|KIAA0430_ENST00000344181.3_Missense_Mutation_p.L1371M|KIAA0430_ENST00000551742.1_Missense_Mutation_p.L1683M	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1683					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCAGAGGTCAGAGTTTTGCTC	0.488																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(5047-5049)Ctg>Atg		KIAA0430							44	47	46					16																	15690732		2056	4217	6273	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15690732G>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.5047C>A	16.37:g.15690732G>T	ENSP00000379654:p.Leu1683Met					KIAA0430_ENST00000551742.1_Missense_Mutation_p.L1683M|KIAA0430_ENST00000602337.1_Missense_Mutation_p.L1680M|KIAA0430_ENST00000548025.1_Missense_Mutation_p.L1680M|KIAA0430_ENST00000540441.2_Missense_Mutation_p.L1518M|KIAA0430_ENST00000344181.3_Missense_Mutation_p.L1371M	p.L1683M	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			27	5253	-			1682					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.5047C>A	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	13.95	2.388890	0.42308	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.45	3.43	0.39272	.	0.845188	0.10449	N	0.673283	T	0.32102	0.0818	N	0.24115	0.695	0.09310	N	1	P;P;P;P	0.41265	0.744;0.739;0.739;0.628	P;P;P;B	0.46172	0.503;0.506;0.506;0.306	T	0.15752	-1.0426	9	0.46703	T	0.11	.	8.9492	0.35779	0.0789:0.2918:0.6294:0.0	.	1682;1680;1679;1682	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	M	1683;1518;1623;1371;1680;1683;1549	.	ENSP00000315718:L1623M	L	-	1	2	KIAA0430	15598233	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	0.593000	0.23999	0.619000	0.30197	0.655000	0.94253	CTG		0.488	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		6	33	1	0	0.00116845	1	0.0011864	6	33					T	15690732	G	T	15690732	3	4	435	1	0	0	0	0	1	0	0	0	8177	933	33	5	185	5	KIAA0430	16	15690732	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	996956	15690732	74664021	6813	27738											
NDE1	54820	broad.mit.edu	37	chr16	15771786	15771786	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctggagcaagcaaatgaCgacctggaaagagccaagcg	15	3	14	9	2	0	2	0	1	0	1	0	6	0	4	2	2	5	3	2	2	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:15771786C>T	ENST00000396353.2	+	5	1192	c.366C>T	c.(364-366)gaC>gaT	p.D122D	NDE1_ENST00000342673.5_Silent_p.D122D|NDE1_ENST00000396355.1_Silent_p.D122D|NDE1_ENST00000396354.1_Silent_p.D122D			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	122	Interaction with PAFAH1B1. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AAGCAAATGACGACCTGGAAA	0.542																																						ENST00000396355.1																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.(364-366)gaC>gaT		nudE neurodevelopment protein 1							106	101	103					16																	15771786		2197	4300	6497	SO:0001819	synonymous_variant	54820				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	g.chr16:15771786C>T	AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"nudE nuclear distribution gene E homolog 1 (A. nidulans)", "nudE nuclear distribution E homolog 1 (A. nidulans)"			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.366C>T	16.37:g.15771786C>T						NDE1_ENST00000396353.2_Silent_p.D122D|NDE1_ENST00000396354.1_Silent_p.D122D|NDE1_ENST00000342673.5_Silent_p.D122D	p.D122D	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN			5	1192	+			122			Interaction with PAFAH1B1 (By similarity).		Q49AQ2	Silent	SNP	ENST00000396353.2	37	c.366C>T																																																																																					0.542	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017668		12	23	0	0	0	1	0	12	23					T	15771786	C	T	15771786	2	4	435	1	0	0	0	0	0	0	0	1	10243	535	19	1		1	NDE1	16	15771786	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	81054	15771786	74582967	6814	27739											
MYH11	4629	broad.mit.edu	37	chr16	15820787	15820787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcagctcctgcacctgcGcctccagcttcttcttctta	5	13	6	17	1	3	0	0	0	3	0	5	0	5	0	4	0	5	4	4	0	1	4	rs138623948		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:15820787G>A	ENST00000300036.5	-	28	3885	c.3776C>T	c.(3775-3777)gCg>gTg	p.A1259V	MYH11_ENST00000452625.2_Missense_Mutation_p.A1266V|MYH11_ENST00000396324.3_Missense_Mutation_p.A1266V|MYH11_ENST00000576790.2_Missense_Mutation_p.A1259V|AF001548.5_ENST00000574212.1_RNA	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1259			Missing (in AAT4). {ECO:0000269|PubMed:16444274}.		axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			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						CTGCACCTGCGCCTCCAGCTT	0.637			T	CBFB	AML								G|||	1	0.000199681	8e-04	0	5008	,	,		15667	0		0	False		,,,				2504	0					ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				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						c.(3775-3777)gCg>gTg		myosin, heavy chain 11, smooth muscle		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	3,4391	6.2+/-15.9	0,3,2194	114	125	122		3797,3797,3776,3776	-0.9	1	16	dbSNP_134	122	0,8600		0,0,4300	yes	missense,missense,missense,missense	MYH11	NM_001040113.1,NM_001040114.1,NM_002474.2,NM_022844.2	64,64,64,64	0,3,6494	AA,AG,GG		0.0,0.0683,0.0231	benign,benign,benign,benign	1266/1946,1266/1980,1259/1973,1259/1939	15820787	3,12991	2197	4300	6497	SO:0001583	missense	4629				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	g.chr16:15820787G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3776C>T	16.37:g.15820787G>A	ENSP00000300036:p.Ala1259Val					MYH11_ENST00000576790.1_Missense_Mutation_p.A1259V|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Missense_Mutation_p.A1266V|MYH11_ENST00000396324.3_Missense_Mutation_p.A1266V|MYH11_ENST00000300036.5_Missense_Mutation_p.A1259V	p.A1259V	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			28	3882	-			1259		Missing (in AAT4).			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.3776C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943383	0.34283	6.83E-4	0.0	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	4.68	-0.912	0.10504	Myosin tail (1);	0.301230	0.30830	N	0.008789	T	0.72011	0.3408	L	0.42686	1.345	0.19575	N	0.999966	B;B;B;B;B	0.10296	0.003;0.001;0.001;0.001;0.001	B;B;B;B;B	0.27170	0.013;0.007;0.007;0.013;0.077	T	0.57837	-0.7742	10	0.33940	T	0.23	.	5.0084	0.14300	0.4611:0.2712:0.2677:0.0	.	1266;1259;1266;1259;1266	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	V	1259;1259;1266;1266;1266	ENSP00000300036:A1259V;ENSP00000345136:A1259V;ENSP00000379616:A1266V;ENSP00000407821:A1266V	ENSP00000300036:A1259V	A	-	2	0	MYH11	15728288	0.000000	0.05858	0.994000	0.49952	0.960000	0.62799	-0.233000	0.09041	-0.114000	0.11936	-0.345000	0.07892	GCG		0.637	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		59	86	0	0	0	1	0	59	86					A	15820787	G	A	15820787	3	1	435	1	0	0	0	0	1	0	0	0	10031	1087	38	1	2233	1	MYH11	16	15820787	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	49001	15820787	74533966	6815	27740											
MYH11	4629	broad.mit.edu	37	chr16	15826541	15826541	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggccttcttcagcacCgtcacctcctgctccctctt	4	12	6	19	1	4	0	2	0	2	0	7	0	7	0	6	1	2	2	6	1	0	3	rs149980738	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:15826541C>T	ENST00000300036.5	-	27	3640	c.3531G>A	c.(3529-3531)acG>acA	p.T1177T	MYH11_ENST00000452625.2_Silent_p.T1184T|MYH11_ENST00000396324.3_Silent_p.T1184T|MYH11_ENST00000576790.2_Silent_p.T1177T|AF001548.5_ENST00000574212.1_RNA	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1177					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			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						TCTTCAGCACCGTCACCTCCT	0.587			T	CBFB	AML								C|||	7	0.00139776	8e-04	0	5008	,	,		19783	0		0	False		,,,				2504	0.0061					ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				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						c.(3529-3531)acG>acA		myosin, heavy chain 11, smooth muscle		C	,,,	2,4392	4.2+/-10.8	0,2,2195	162	115	131		3552,3552,3531,3531	-9.3	0.7	16	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYH11	NM_001040113.1,NM_001040114.1,NM_002474.2,NM_022844.2	,,,	0,2,6495	TT,TC,CC		0.0,0.0455,0.0154	,,,	1184/1946,1184/1980,1177/1973,1177/1939	15826541	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	4629				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	g.chr16:15826541C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3531G>A	16.37:g.15826541C>T						MYH11_ENST00000576790.1_Silent_p.T1177T|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Silent_p.T1184T|MYH11_ENST00000396324.3_Silent_p.T1184T|MYH11_ENST00000300036.5_Silent_p.T1177T	p.T1177T	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			27	3637	-			1177					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.3531G>A	CCDS10565.1																																																																																				0.587	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		20	24	0	0	0	1	0	20	24					T	15826541	C	T	15826541	2	4	435	1	0	0	0	0	0	0	0	1	10031	639	23	2		2	MYH11	16	15826541	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5754	15826541	74528212	6816	27741											
MYH11	4629	broad.mit.edu	37	chr16	15865458	15865458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgctgaaacccatgattGccatggcctccacggtttcc	7	10	8	16	2	0	2	0	2	0	0	3	2	2	2	6	2	2	2	6	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:15865458G>A	ENST00000300036.5	-	9	1110	c.1001C>T	c.(1000-1002)gCa>gTa	p.A334V	MYH11_ENST00000452625.2_Missense_Mutation_p.A341V|MYH11_ENST00000396324.3_Missense_Mutation_p.A341V|MYH11_ENST00000576790.2_Missense_Mutation_p.A334V	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	334	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			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						ACCCATGATTGCCATGGCCTC	0.527			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				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						c.(1000-1002)gCa>gTa		myosin, heavy chain 11, smooth muscle							132	109	117					16																	15865458		2197	4300	6497	SO:0001583	missense	4629				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	g.chr16:15865458G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1001C>T	16.37:g.15865458G>A	ENSP00000300036:p.Ala334Val					MYH11_ENST00000576790.1_Missense_Mutation_p.A334V|MYH11_ENST00000452625.2_Missense_Mutation_p.A341V|MYH11_ENST00000396324.3_Missense_Mutation_p.A341V|MYH11_ENST00000300036.5_Missense_Mutation_p.A334V	p.A334V	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			9	1107	-			334			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.1001C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992201	0.35131	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.43	-4.44	0.03557	Myosin head, motor domain (2);	1.131850	0.06551	N	0.745041	T	0.64800	0.2631	L	0.39245	1.2	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.20955	0.009;0.003;0.003;0.003;0.005;0.032	T	0.58624	-0.7604	10	0.72032	D	0.01	.	17.8873	0.88861	0.0:0.6609:0.2613:0.0778	.	341;334;334;341;334;341	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	V	334;334;341;341;341	ENSP00000300036:A334V;ENSP00000345136:A334V;ENSP00000379616:A341V;ENSP00000407821:A341V	ENSP00000300036:A334V	A	-	2	0	MYH11	15772959	0.000000	0.05858	0.030000	0.17652	0.758000	0.43043	-0.762000	0.04745	-0.388000	0.07797	-0.270000	0.10280	GCA		0.527	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		23	34	0	0	0	1	0	23	34					A	15865458	G	A	15865458	3	1	435	1	0	0	0	0	1	0	0	0	10031	1319	46	3	5084	3	MYH11	16	15865458	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38917	15865458	74489295	6817	27742											
ABCC1	4363	broad.mit.edu	37	chr16	16215871	16215871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccggcagctgaagcgcctcGagtcggtcagccgctccccg	5	5	13	18	6	1	1	1	1	0	0	4	2	2	1	5	2	3	3	5	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:16215871G>A	ENST00000399410.3	+	24	3605	c.3430G>A	c.(3430-3432)Gag>Aag	p.E1144K	ABCC1_ENST00000349029.5_Missense_Mutation_p.E1029K|ABCC1_ENST00000399408.2_Missense_Mutation_p.E1154K|ABCC1_ENST00000345148.5_Missense_Mutation_p.E1144K|ABCC1_ENST00000346370.5_Missense_Mutation_p.E1088K|ABCC1_ENST00000351154.5_Missense_Mutation_p.E1085K	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1144	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GAAGCGCCTCGAGTCGGTCAG	0.617																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(3460-3462)Gag>Aag		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						32	36	34					16																	16215871		2139	4268	6407	SO:0001583	missense	4363				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	g.chr16:16215871G>A	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3430G>A	16.37:g.16215871G>A	ENSP00000382342:p.Glu1144Lys					ABCC1_ENST00000346370.5_Missense_Mutation_p.E1088K|ABCC1_ENST00000399410.3_Missense_Mutation_p.E1144K|ABCC1_ENST00000351154.5_Missense_Mutation_p.E1085K|ABCC1_ENST00000345148.5_Missense_Mutation_p.E1144K|ABCC1_ENST00000349029.5_Missense_Mutation_p.E1029K	p.E1154K			P33527	MRP1_HUMAN			25	3635	+			1144			ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.3460G>A	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112630	0.94339	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.36	4.41	0.53225	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.045211	0.85682	N	0.000000	D	0.96617	0.8896	H	0.96111	3.77	0.54753	D	0.999981	D;D;D;D;D;D	0.89917	0.989;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.91635	0.882;0.999;0.997;0.996;0.999;0.999	D	0.97231	0.9884	10	0.87932	D	0	-36.1219	12.784	0.57493	0.0784:0.0:0.9216:0.0	.	1029;1144;1088;1085;1144;1154	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	K	1144;1154;1088;1085;1144;1029;828	ENSP00000382342:E1144K;ENSP00000382340:E1154K;ENSP00000263019:E1088K;ENSP00000263017:E1085K;ENSP00000263014:E1144K;ENSP00000263016:E1029K	ENSP00000263014:E1144K	E	+	1	0	ABCC1	16123372	1.000000	0.71417	0.813000	0.32504	0.765000	0.43378	9.828000	0.99408	1.262000	0.44165	0.561000	0.74099	GAG		0.617	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		9	24	0	0	0	1	0	9	24					A	16215871	G	A	16215871	3	1	435	1	0	0	0	0	1	0	0	0	49	1059	37	2	3524	2	ABCC1	16	16215871	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	350413	16215871	74138882	6818	27743											
ABCC6	368	broad.mit.edu	37	chr16	16259662	16259662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcggtttagcaggtgacCaatgggtgtccgctcaaaga	11	8	14	8	2	1	2	1	1	0	1	2	3	2	2	2	3	2	3	2	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:16259662C>T	ENST00000205557.7	-	23	3153	c.3124G>A	c.(3124-3126)Ggt>Agt	p.G1042S		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1042	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			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)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	AGCAGGTGACCAATGGGTGTC	0.582																																						ENST00000205557.7																			0				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	GRCh37	CM061627	ABCC6	M		c.(3124-3126)Ggt>Agt		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							112	85	94					16																	16259662		2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16259662C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3124G>A	16.37:g.16259662C>T	ENSP00000205557:p.Gly1042Ser						p.G1042S	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	23	3153	-			1042			ABC transmembrane type-1 2.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.3124G>A	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174138	0.78452	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.97529	-4.42	5.52	5.52	0.82312	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.49916	U	0.000140	D	0.99064	0.9679	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99271	1.0893	10	0.87932	D	0	.	19.4403	0.94817	0.0:1.0:0.0:0.0	.	1042	O95255	MRP6_HUMAN	S	1042;47	ENSP00000205557:G1042S	ENSP00000205557:G1042S	G	-	1	0	ABCC6	16167163	1.000000	0.71417	0.951000	0.38953	0.060000	0.15804	7.344000	0.79328	2.586000	0.87340	0.561000	0.74099	GGT		0.582	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			9	38	0	0	0	1	0	9	38					T	16259662	C	T	16259662	3	4	435	1	0	0	0	0	1	0	0	0	57	594	21	3	1423	3	ABCC6	16	16259662	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	43791	16259662	74095091	6819	27744											
TMC5	79838	broad.mit.edu	37	chr16	19455537	19455537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagatggcaaactcatatgGccactctctgccaggtgctc	9	9	11	12	0	2	1	1	0	1	1	4	2	2	1	2	4	3	2	2	4	2	1	rs377325174		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:19455537G>A	ENST00000396229.2	+	4	1672	c.923G>A	c.(922-924)gGc>gAc	p.G308D	TMC5_ENST00000541464.1_Missense_Mutation_p.G308D|TMC5_ENST00000381414.4_Missense_Mutation_p.G308D|TMC5_ENST00000542583.2_Missense_Mutation_p.G308D	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	308					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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						AACTCATATGGCCACTCTCTG	0.488																																						ENST00000396229.2																			0				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						c.(922-924)gGc>gAc		transmembrane channel-like 5		G	ASP/GLY,ASP/GLY	3,3843		0,3,1920	92	92	92		923,923	0.7	0	16		92	0,8272		0,0,4136	no	missense,missense	TMC5	NM_001105248.1,NM_001105249.1	94,94	0,3,6056	AA,AG,GG		0.0,0.078,0.0248	probably-damaging,probably-damaging	308/1007,308/949	19455537	3,12115	1923	4136	6059	SO:0001583	missense	79838					integral to membrane		g.chr16:19455537G>A	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.923G>A	16.37:g.19455537G>A	ENSP00000379531:p.Gly308Asp					TMC5_ENST00000542583.2_Missense_Mutation_p.G308D|TMC5_ENST00000541464.1_Missense_Mutation_p.G308D|TMC5_ENST00000381414.4_Missense_Mutation_p.G308D	p.G308D	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			4	1672	+			308					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.923G>A	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252609	0.22880	7.8E-4	0.0	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	3.7	0.661	0.17874	.	3.450510	0.00541	N	0.000225	T	0.52565	0.1742	L	0.44542	1.39	0.09310	N	1	D;D;B	0.58268	0.982;0.982;0.376	P;P;B	0.55667	0.743;0.781;0.134	T	0.32693	-0.9897	10	0.30854	T	0.27	-0.8975	5.6074	0.17387	0.3606:0.0:0.6394:0.0	.	308;308;308	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	D	308	ENSP00000441227:G308D;ENSP00000370822:G308D;ENSP00000379531:G308D;ENSP00000446274:G308D	ENSP00000370822:G308D	G	+	2	0	TMC5	19363038	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.002000	0.13061	0.181000	0.19994	0.655000	0.94253	GGC		0.488	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		4	49	0	0	0	1	0	4	49					A	19455537	G	A	19455537	3	1	435	1	0	0	0	0	1	0	0	0	15985	1203	42	3	929	3	TMC5	16	19455537	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3195875	19455537	70899216	6820	27745											
C16orf62	57020	broad.mit.edu	37	chr16	19640046	19640046	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattctcaacgaagcttggAaagtcatcactaagctgaag	15	9	9	8	1	3	2	3	1	1	1	4	4	3	3	0	1	3	2	0	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:19640046A>G	ENST00000251143.5	+	17	1483	c.1471A>G	c.(1471-1473)Aaa>Gaa	p.K491E	C16orf62_ENST00000417362.2_Missense_Mutation_p.K424E|C16orf62_ENST00000542263.1_Missense_Mutation_p.K513E|C16orf62_ENST00000448695.1_Missense_Mutation_p.K341E|C16orf62_ENST00000438132.3_Missense_Mutation_p.K580E|C16orf62_ENST00000543152.1_Missense_Mutation_p.K240E			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	491						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CGAAGCTTGGAAAGTCATCAC	0.358																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(1738-1740)Aaa>Gaa		chromosome 16 open reading frame 62							113	106	108					16																	19640046		2197	4300	6497	SO:0001583	missense	57020					integral to membrane		g.chr16:19640046A>G		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1471A>G	16.37:g.19640046A>G	ENSP00000251143:p.Lys491Glu					C16orf62_ENST00000448695.1_Missense_Mutation_p.K341E|C16orf62_ENST00000543152.1_Missense_Mutation_p.K240E|C16orf62_ENST00000542263.1_Missense_Mutation_p.K513E|C16orf62_ENST00000417362.2_Missense_Mutation_p.K424E|C16orf62_ENST00000251143.5_Missense_Mutation_p.K491E	p.K580E	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			17	1786	+			491					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37	c.1738A>G		.	.	.	.	.	.	.	.	.	.	A	23.9	4.471590	0.84533	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.68997	0.3062	L	0.58510	1.815	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	T	0.67818	-0.5572	9	.	.	.	-19.8885	16.1219	0.81365	1.0:0.0:0.0:0.0	.	513;491	F5H7K1;Q7Z3J2	.;CP062_HUMAN	E	580;513;491;424;341	ENSP00000400815:K580E;ENSP00000442468:K513E;ENSP00000251143:K491E;ENSP00000395973:K424E;ENSP00000398009:K341E	.	K	+	1	0	C16orf62	19547547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.455000	0.90355	2.285000	0.76669	0.533000	0.62120	AAA		0.358	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		5	86	0	0	0	1	0	5	86					G	19640046	A	G	19640046	3	3	435	1	0	0	0	0	1	0	0	0	1825	247	9	4	1537	4	C16orf62	16	19640046	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	184509	19640046	70714707	6821	27746											
C16orf62	57020	broad.mit.edu	37	chr16	19693654	19693654	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaatccgcatctacacctgCgtcctgcatctcctctccgc	8	10	5	18	3	3	0	0	0	3	0	7	0	5	0	5	0	3	2	5	0	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:19693654C>T	ENST00000251143.5	+	28	2481	c.2469C>T	c.(2467-2469)tgC>tgT	p.C823C	C16orf62_ENST00000417362.2_Silent_p.C730C|C16orf62_ENST00000542263.1_Silent_p.C819C|C16orf62_ENST00000448695.1_Silent_p.C673C|C16orf62_ENST00000438132.3_Silent_p.C912C|C16orf62_ENST00000543152.1_Silent_p.C572C			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	823						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TCTACACCTGCGTCCTGCATC	0.532																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(2734-2736)tgC>tgT		chromosome 16 open reading frame 62							141	118	126					16																	19693654		2197	4300	6497	SO:0001819	synonymous_variant	57020					integral to membrane		g.chr16:19693654C>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2469C>T	16.37:g.19693654C>T						C16orf62_ENST00000448695.1_Silent_p.C673C|C16orf62_ENST00000543152.1_Silent_p.C572C|C16orf62_ENST00000542263.1_Silent_p.C819C|C16orf62_ENST00000417362.2_Silent_p.C730C|C16orf62_ENST00000251143.5_Silent_p.C823C	p.C912C	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			28	2784	+			823					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37	c.2736C>T																																																																																					0.532	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		29	41	0	0	0	1	0	29	41					T	19693654	C	T	19693654	2	4	435	1	0	0	0	0	0	0	0	1	1825	776	27	1		1	C16orf62	16	19693654	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	53608	19693654	70661099	6822	27747											
ACSM2A	123876	broad.mit.edu	37	chr16	20476858	20476858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggcaagcgactcccaaGcccagccctgtggtgggtga	7	6	15	13	1	0	1	0	1	0	0	1	2	1	1	3	4	3	2	3	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:20476858G>A	ENST00000573854.1	+	3	311	c.197G>A	c.(196-198)aGc>aAc	p.S66N	ACSM2A_ENST00000219054.6_Missense_Mutation_p.S66N|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000417235.2_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.S66N|ACSM2A_ENST00000575690.1_Missense_Mutation_p.S66N|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.S66N	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	66					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CGACTCCCAAGCCCAGCCCTG	0.527																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(196-198)aGc>aAc		acyl-CoA synthetase medium-chain family member 2A							39	39	39					16																	20476858		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20476858G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.197G>A	16.37:g.20476858G>A	ENSP00000459451:p.Ser66Asn					ACSM2A_ENST00000575690.1_Missense_Mutation_p.S66N|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.S66N|ACSM2A_ENST00000219054.6_Missense_Mutation_p.S66N|ACSM2A_ENST00000396104.2_Missense_Mutation_p.S66N|ACSM2A_ENST00000417235.2_5'UTR	p.S66N	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			3	311	+			66					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.197G>A	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	0.052	-1.246295	0.01481	.	.	ENSG00000183747	ENST00000219054;ENST00000424070;ENST00000396104	T;T;T	0.40476	1.03;1.03;1.03	3.76	-4.16	0.03869	.	1.524580	0.03985	N	0.293997	T	0.13756	0.0333	N	0.03154	-0.405	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22871	-1.0204	10	0.02654	T	1	-0.1756	2.2249	0.03981	0.5406:0.1445:0.1696:0.1454	.	66	Q08AH3	ACS2A_HUMAN	N	66	ENSP00000219054:S66N;ENSP00000394904:S66N;ENSP00000379411:S66N	ENSP00000219054:S66N	S	+	2	0	ACSM2A	20384359	0.000000	0.05858	0.016000	0.15963	0.079000	0.17450	-0.201000	0.09464	-0.395000	0.07715	0.298000	0.19748	AGC		0.527	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		7	32	0	0	0	1	0	7	32					A	20476858	G	A	20476858	3	1	435	1	0	0	0	0	1	0	0	0	183	971	34	3	203	3	ACSM2A	16	20476858	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	783204	20476858	69877895	6823	27748											
ACSM3	6296	broad.mit.edu	37	chr16	20787371	20787371	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtggcctgtctgcgaacaGgttagtaatgtttgctttcc	7	15	11	8	1	1	0	0	0	1	0	2	1	2	0	2	2	3	4	2	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:20787371G>T	ENST00000289416.5	+	3	905	c.430G>T	c.(430-432)Ggg>Tgg	p.G144W	ACSM3_ENST00000440284.2_Splice_Site_p.G144W|ACSM3_ENST00000450120.2_Splice_Site_p.G99W	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	144					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TCTGCGAACAGGTTAGTAATG	0.438																																						ENST00000289416.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						c.e3+1		acyl-CoA synthetase medium-chain family member 3							61	60	60					16																	20787371		2201	4300	6501	SO:0001630	splice_region_variant	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20787371G>T	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.430+1G>T	16.37:g.20787371G>T						ACSM3_ENST00000450120.2_Splice_Site_p.G99_splice|ACSM3_ENST00000440284.2_Splice_Site_p.G144_splice	p.G144_splice	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN			3	905	+			144					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Splice_Site	SNP	ENST00000289416.5	37	c.430_splice	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465363	0.84425	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.72394	-0.65;-0.65;-0.65	5.98	5.98	0.97165	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.90431	0.7004	H	0.96633	3.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92641	0.6124	10	0.87932	D	0	-4.858	20.4366	0.99092	0.0:0.0:1.0:0.0	.	99;144;144	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	W	144;144;99	ENSP00000289416:G144W;ENSP00000394565:G144W;ENSP00000395297:G99W	ENSP00000289416:G144W	G	+	1	0	ACSM3	20694872	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	8.158000	0.89649	2.837000	0.97791	0.591000	0.81541	GGG		0.438	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622	Missense_Mutation	22	47	1	0	3.83957e-06	1	3.98508e-06	22	47					T	20787371	G	T	20787371	5	4	435	1	0	0	0	0	0	0	1	0	185	1014	35	5	436	5	ACSM3	16	20787371	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	310513	20787371	69567382	6824	27749											
ACSM3	6296	broad.mit.edu	37	chr16	20797543	20797543	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacactacctacctaccgCttacccccatataaactttc	11	12	2	16	1	0	0	0	0	0	0	1	0	0	0	5	0	6	2	5	0	8	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:20797543C>T	ENST00000289416.5	+	9	1699				ACSM3_ENST00000567387.1_Intron|ACSM3_ENST00000440284.2_Silent_p.R429R|ACSM3_ENST00000450120.2_Intron|ERI2_ENST00000300005.3_Intron|RNU6-944P_ENST00000364023.1_RNA	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3						cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						CTACCTACCGCTTACCCCCAT	0.363																																						ENST00000440284.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						c.(1285-1287)cgC>cgT		acyl-CoA synthetase medium-chain family member 3							79	76	77					16																	20797543		1325	2309	3634	SO:0001627	intron_variant	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20797543C>T	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1224+63C>T	16.37:g.20797543C>T						ACSM3_ENST00000289416.5_Intron|ACSM3_ENST00000450120.2_Intron|ACSM3_ENST00000567387.1_Intron|ERI2_ENST00000300005.3_Intron	p.R429R	NM_202000.2	NP_973729.1	Q53FZ2	ACSM3_HUMAN			9	1424	+			0					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Silent	SNP	ENST00000289416.5	37	c.1287C>T	CCDS10589.1																																																																																				0.363	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		7	9	0	0	0	1	0	7	9					T	20797543	C	T	20797543	1	4	435	0	1	0	0	0	0	0	0	0	185	784	28	3		3	ACSM3	16	20797543	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10172	20797543	69557210	6825	27750											
LOC81691	81691	broad.mit.edu	37	chr16	20833204	20833204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaaaggaggaaatgagaaCgtttcactttccattacaag	16	9	9	7	1	1	1	1	1	0	1	2	5	2	3	1	2	2	1	1	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:20833204C>T	ENST00000261377.6	+	6	805	c.596C>T	c.(595-597)aCg>aTg	p.T199M	AC004381.6_ENST00000567297.1_3'UTR|AC004381.6_ENST00000564274.1_Missense_Mutation_p.T199M|AC004381.6_ENST00000348433.6_Missense_Mutation_p.T199M|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					GAAATGAGAACGTTTCACTTT	0.388																																						ENST00000261377.6																			0											c.(595-597)aCg>aTg									114	107	109					16																	20833204		2201	4300	6501	SO:0001583	missense	0							g.chr16:20833204C>T																												ENST00000261377.6:c.596C>T	16.37:g.20833204C>T	ENSP00000261377:p.Thr199Met					AC004381.6_ENST00000564274.1_Missense_Mutation_p.T199M|AC004381.6_ENST00000348433.6_Missense_Mutation_p.T199M|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000567297.1_3'UTR	p.T199M	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					6	805	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.596C>T	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475126	0.43942	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.31769	1.48;1.89	5.26	0.637	0.17735	.	0.221657	0.45606	D	0.000356	T	0.28134	0.0694	L	0.50333	1.59	0.30941	N	0.72582	D;B	0.57571	0.98;0.341	P;B	0.51170	0.661;0.119	T	0.26430	-1.0103	10	0.48119	T	0.1	-1.2813	0.955	0.01384	0.2977:0.3748:0.1306:0.1969	.	199;199	Q96IC2-2;Q96IC2	.;REXON_HUMAN	M	199	ENSP00000261378:T199M;ENSP00000261377:T199M	ENSP00000261377:T199M	T	+	2	0	AC004381.6	20740705	0.910000	0.30920	0.992000	0.48379	0.908000	0.53690	0.981000	0.29526	0.217000	0.20800	0.555000	0.69702	ACG		0.388	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			19	29	0	0	0	1	0	19	29					T	20833204	C	T	20833204	3	4	435	1	0	0	0	0	1	0	0	0	8890	536	19	1	614	1	LOC81691	16	20833204	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	35661	20833204	69521549	6826	27751											
LOC81691	81691	broad.mit.edu	37	chr16	20835781	20835781	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttcctgattgtgaaaacTttttacttaccaaatgtaat	12	18	5	6	0	0	2	0	2	0	0	1	2	1	2	2	0	3	2	2	0	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:20835781T>A	ENST00000261377.6	+	7	846	c.637T>A	c.(637-639)Ttt>Att	p.F213I	AC004381.6_ENST00000567297.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.F213I|AC004381.6_ENST00000348433.6_Missense_Mutation_p.F213I|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TTGTGAAAACTTTTTACTTAC	0.338																																						ENST00000261377.6																			0											c.(637-639)Ttt>Att									110	104	106					16																	20835781		2201	4299	6500	SO:0001583	missense	0							g.chr16:20835781T>A																												ENST00000261377.6:c.637T>A	16.37:g.20835781T>A	ENSP00000261377:p.Phe213Ile					AC004381.6_ENST00000564274.1_Missense_Mutation_p.F213I|AC004381.6_ENST00000348433.6_Missense_Mutation_p.F213I|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000567297.1_Intron	p.F213I	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					7	846	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.637T>A	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.144743	0.57044	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.33654	1.4;1.79	4.92	4.92	0.64577	.	0.103370	0.64402	D	0.000002	T	0.34774	0.0909	L	0.48642	1.525	0.45378	D	0.998366	B;B	0.16802	0.019;0.0	B;B	0.21917	0.037;0.004	T	0.19224	-1.0312	10	0.66056	D	0.02	-14.3769	13.8455	0.63466	0.0:0.0:0.0:1.0	.	213;213	Q96IC2-2;Q96IC2	.;REXON_HUMAN	I	213	ENSP00000261378:F213I;ENSP00000261377:F213I	ENSP00000261377:F213I	F	+	1	0	AC004381.6	20743282	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.969000	0.70422	1.960000	0.56953	0.459000	0.35465	TTT		0.338	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			20	31	0	0	0	1	0	20	31					A	20835781	T	A	20835781	3	1	435	1	0	0	0	0	1	0	0	0	8890	1609	56	5	659	5	LOC81691	16	20835781	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	2577	20835781	69518972	6827	27752											
DNAH3	55567	broad.mit.edu	37	chr16	20975040	20975040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtaccacacctcctccGtaatttccttcttctgtttc	7	15	5	14	1	2	0	0	0	2	0	6	1	5	1	5	1	1	3	5	1	3	6	rs148148954	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:20975040G>A	ENST00000261383.3	-	53	10165	c.10166C>T	c.(10165-10167)aCg>aTg	p.T3389M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3389					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CACCTCCTCCGTAATTTCCTT	0.517													G|||	2	0.000399361	0	0	5008	,	,		22962	0.001		0.001	False		,,,				2504	0					ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10165-10167)aCg>aTg		dynein, axonemal, heavy chain 3		G	MET/THR	2,4400	4.2+/-10.8	0,2,2199	90	74	79		10166	2.3	0	16	dbSNP_134	79	0,8600		0,0,4300	yes	missense	DNAH3	NM_017539.1	81	0,2,6499	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	3389/4117	20975040	2,13000	2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975040G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10166C>T	16.37:g.20975040G>A	ENSP00000261383:p.Thr3389Met					DNAH3_ENST00000415178.1_3'UTR	p.T3389M	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	10165	-			3389					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10166C>T	CCDS10594.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.225	-0.158610	0.06544	4.54E-4	0.0	ENSG00000158486	ENST00000261383	T	0.57273	0.41	5.78	2.27	0.28462	.	0.487112	0.21765	N	0.069447	T	0.39655	0.1086	L	0.42529	1.33	0.09310	N	0.999996	P	0.42556	0.783	B	0.37346	0.247	T	0.28106	-1.0054	10	0.72032	D	0.01	.	7.1392	0.25546	0.0:0.1312:0.1291:0.7396	.	3389	Q8TD57	DYH3_HUMAN	M	3389	ENSP00000261383:T3389M	ENSP00000261383:T3389M	T	-	2	0	DNAH3	20882541	0.051000	0.20477	0.001000	0.08648	0.063000	0.16089	2.149000	0.42244	0.115000	0.18071	-0.457000	0.05445	ACG		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		7	37	0	0	0	1	0	7	37					A	20975040	G	A	20975040	3	1	435	1	0	0	0	0	1	0	0	0	4603	1145	40	1	2223	1	DNAH3	16	20975040	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	139259	20975040	69379713	6828	27753											
DNAH3	55567	broad.mit.edu	37	chr16	21008665	21008665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacgagcagcatgtccaCgatgtccagcctggttgtgt	7	11	12	11	2	1	0	1	0	0	0	3	2	3	0	3	1	3	3	3	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:21008665C>T	ENST00000261383.3	-	44	6540	c.6541G>A	c.(6541-6543)Gtg>Atg	p.V2181M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2181	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCATGTCCACGATGTCCAGC	0.552																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(6541-6543)Gtg>Atg		dynein, axonemal, heavy chain 3							118	107	111					16																	21008665		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21008665C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6541G>A	16.37:g.21008665C>T	ENSP00000261383:p.Val2181Met					DNAH3_ENST00000415178.1_3'UTR	p.V2181M	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	44	6540	-			2181			AAA 3 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.6541G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166293	0.57476	.	.	ENSG00000158486	ENST00000261383	T	0.35973	1.28	5.23	3.24	0.37175	ATPase, AAA+ type, core (1);	0.328841	0.28706	N	0.014407	T	0.40645	0.1125	M	0.85710	2.77	0.19575	N	0.999969	B	0.27853	0.191	B	0.30572	0.117	T	0.43343	-0.9397	10	0.54805	T	0.06	.	6.4895	0.22107	0.0:0.6466:0.1341:0.2193	.	2181	Q8TD57	DYH3_HUMAN	M	2181	ENSP00000261383:V2181M	ENSP00000261383:V2181M	V	-	1	0	DNAH3	20916166	0.001000	0.12720	0.925000	0.36789	0.962000	0.63368	0.024000	0.13555	1.176000	0.42840	0.650000	0.86243	GTG		0.552	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		26	34	0	0	0	1	0	26	34					T	21008665	C	T	21008665	3	4	435	1	0	0	0	0	1	0	0	0	4603	536	19	1	5884	1	DNAH3	16	21008665	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33625	21008665	69346088	6829	27754											
DNAH3	55567	broad.mit.edu	37	chr16	21110052	21110052	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaaaactttccagttctCtgtggtagccctcaagtctc	8	14	6	13	0	3	0	1	0	2	0	7	0	5	0	3	1	2	2	3	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:21110052C>A	ENST00000261383.3	-	17	2404	c.2405G>T	c.(2404-2406)aGa>aTa	p.R802I	DNAH3_ENST00000415178.1_Missense_Mutation_p.R802I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	802	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCCAGTTCTCTGTGGTAGCC	0.403																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(2404-2406)aGa>aTa		dynein, axonemal, heavy chain 3							145	142	143					16																	21110052		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21110052C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2405G>T	16.37:g.21110052C>A	ENSP00000261383:p.Arg802Ile					DNAH3_ENST00000415178.1_Missense_Mutation_p.R802I	p.R802I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	17	2404	-			802			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.2405G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	8.534	0.871689	0.17322	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.23348	1.91;2.07	5.45	1.76	0.24704	.	0.309655	0.29995	N	0.010674	T	0.15782	0.0380	L	0.34521	1.04	0.43122	D	0.994843	B	0.25955	0.138	B	0.17433	0.018	T	0.06716	-1.0811	10	0.51188	T	0.08	.	5.8291	0.18570	0.0:0.2928:0.1316:0.5756	.	802	Q8TD57	DYH3_HUMAN	I	802	ENSP00000261383:R802I;ENSP00000394245:R802I	ENSP00000261383:R802I	R	-	2	0	DNAH3	21017553	1.000000	0.71417	0.942000	0.38095	0.079000	0.17450	1.262000	0.32992	0.370000	0.24538	-0.290000	0.09829	AGA		0.403	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		51	99	1	0	7.92265e-33	1	8.89139e-33	51	99					A	21110052	C	A	21110052	3	1	435	1	0	0	0	0	1	0	0	0	4603	913	32	5	10128	5	DNAH3	16	21110052	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	101387	21110052	69244701	6830	27755											
ZP2	7783	broad.mit.edu	37	chr16	21210894	21210894	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatttgaagtttttacctcGcctgtgcctagaggacacag	10	12	10	9	1	0	2	0	1	0	1	1	4	0	3	3	1	2	1	3	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:21210894G>A	ENST00000574002.1	-	17	2406	c.1924C>T	c.(1924-1926)Cga>Tga	p.R642*	ZP2_ENST00000219593.4_Nonsense_Mutation_p.R642*|ZP2_ENST00000574091.1_Nonsense_Mutation_p.R633*|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	642					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TTTTTACCTCGCCTGTGCCTA	0.433																																						ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(1924-1926)Cga>Tga		zona pellucida glycoprotein 2 (sperm receptor)							86	85	85					16																	21210894		2200	4300	6500	SO:0001587	stop_gained	7783				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	g.chr16:21210894G>A	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1924C>T	16.37:g.21210894G>A	ENSP00000460971:p.Arg642*					AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Nonsense_Mutation_p.R633*|ZP2_ENST00000219593.4_Nonsense_Mutation_p.R642*	p.R642*			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	17	2406	-			642					B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Nonsense_Mutation	SNP	ENST00000574002.1	37	c.1924C>T	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	G	37	6.317537	0.97467	.	.	ENSG00000103310	ENST00000219593	.	.	.	5.73	-4.14	0.03892	.	0.255455	0.26000	N	0.026948	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1122	0.20108	0.1962:0.0:0.3812:0.4227	.	.	.	.	X	642	.	ENSP00000219593:R642X	R	-	1	2	ZP2	21118395	0.155000	0.22806	0.012000	0.15200	0.805000	0.45488	0.290000	0.18975	-0.411000	0.07530	-0.313000	0.08912	CGA		0.433	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			4	10	0	0	0	1	0	4	10					A	21210894	G	A	21210894	4	1	435	1	0	0	0	0	0	1	0	0	18213	1095	38	1	329	1	ZP2	16	21210894	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	100842	21210894	69143859	6831	27756											
ZP2	7783	broad.mit.edu	37	chr16	21213057	21213057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgcaggatcaaggtaaatgGacccaacttcactgaggcca	13	8	10	10	0	2	1	2	1	0	0	2	3	2	3	2	4	2	2	2	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:21213057G>A	ENST00000574002.1	-	14	1956	c.1474C>T	c.(1474-1476)Cca>Tca	p.P492S	ZP2_ENST00000219593.4_Missense_Mutation_p.P492S|ZP2_ENST00000574091.1_Missense_Mutation_p.P483S|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	492	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AAGGTAAATGGACCCAACTTC	0.413																																						ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(1474-1476)Cca>Tca		zona pellucida glycoprotein 2 (sperm receptor)							147	136	140					16																	21213057		2200	4300	6500	SO:0001583	missense	7783				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	g.chr16:21213057G>A	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1474C>T	16.37:g.21213057G>A	ENSP00000460971:p.Pro492Ser					AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.P483S|ZP2_ENST00000219593.4_Missense_Mutation_p.P492S	p.P492S			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	14	1956	-			492			ZP.		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.1474C>T	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321376	0.41096	.	.	ENSG00000103310	ENST00000219593	T	0.81415	-1.49	5.64	4.68	0.58851	Zona pellucida sperm-binding protein (3);	0.286478	0.29424	N	0.012183	D	0.86243	0.5886	M	0.84585	2.705	0.42787	D	0.993884	P;P	0.37636	0.603;0.571	P;B	0.48738	0.588;0.403	D	0.87133	0.2198	10	0.56958	D	0.05	-1.7642	10.695	0.45894	0.1491:0.0:0.8509:0.0	.	483;492	Q4VAP1;Q05996	.;ZP2_HUMAN	S	492	ENSP00000219593:P492S	ENSP00000219593:P492S	P	-	1	0	ZP2	21120558	0.909000	0.30893	0.997000	0.53966	0.197000	0.23852	1.169000	0.31871	2.646000	0.89796	0.591000	0.81541	CCA		0.413	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			6	99	0	0	0	1	0	6	99					A	21213057	G	A	21213057	3	1	435	1	0	0	0	0	1	0	0	0	18213	1174	41	3	791	3	ZP2	16	21213057	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2163	21213057	69141696	6832	27757											
ANKS4B	257629	broad.mit.edu	37	chr16	21261858	21261858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagagggagaggaaaacgGcctcaaagatgatctgccgt	14	6	14	7	2	2	5	1	2	1	3	2	7	2	6	2	3	2	0	2	3	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:21261858G>A	ENST00000311620.5	+	2	1044	c.971G>A	c.(970-972)gGc>gAc	p.G324D		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	324					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GAGGAAAACGGCCTCAAAGAT	0.517																																						ENST00000311620.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20						c.(970-972)gGc>gAc		ankyrin repeat and sterile alpha motif domain containing 4B							159	172	168					16																	21261858		2095	4229	6324	SO:0001583	missense	257629							g.chr16:21261858G>A	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.971G>A	16.37:g.21261858G>A	ENSP00000308772:p.Gly324Asp						p.G324D	NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	2	1044	+			324						Missense_Mutation	SNP	ENST00000311620.5	37	c.971G>A	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	G	1.813	-0.474202	0.04414	.	.	ENSG00000175311	ENST00000311620	T	0.42131	0.98	5.25	-2.7	0.06004	.	1.678020	0.02806	N	0.123754	T	0.21267	0.0512	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14504	-1.0470	10	0.15066	T	0.55	0.4427	7.3373	0.26617	0.502:0.1159:0.3822:0.0	.	324	Q8N8V4	ANS4B_HUMAN	D	324	ENSP00000308772:G324D	ENSP00000308772:G324D	G	+	2	0	ANKS4B	21169359	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.335000	0.19806	-0.259000	0.09432	0.650000	0.86243	GGC		0.517	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		8	15	0	0	0	1	0	8	15					A	21261858	G	A	21261858	3	1	435	1	0	0	0	0	1	0	0	0	691	1203	42	3	977	3	ANKS4B	16	21261858	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	48801	21261858	69092895	6833	27758											
METTL9	51108	broad.mit.edu	37	chr16	21666715	21666715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgtataatgactactacGttctggatgacgctgtcttt	10	15	8	8	2	2	2	0	2	2	0	2	3	2	3	0	1	2	3	0	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:21666715G>A	ENST00000358154.3	+	5	1177	c.919G>A	c.(919-921)Gtt>Att	p.V307I	METTL9_ENST00000396014.4_Missense_Mutation_p.V306I|IGSF6_ENST00000268389.4_5'Flank	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	307										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		TGACTACTACGTTCTGGATGA	0.473																																						ENST00000358154.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7						c.(919-921)Gtt>Att		methyltransferase like 9							105	84	91					16																	21666715		2199	4300	6499	SO:0001583	missense	51108							g.chr16:21666715G>A	NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"DORA reverse strand protein 1"	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.919G>A	16.37:g.21666715G>A	ENSP00000350874:p.Val307Ile					METTL9_ENST00000396014.4_Missense_Mutation_p.V306I	p.V307I	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN		GBM - Glioblastoma multiforme(48;0.0759)	5	1177	+			307					Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Missense_Mutation	SNP	ENST00000358154.3	37	c.919G>A	CCDS10598.2	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341776	0.61073	.	.	ENSG00000197006	ENST00000358154;ENST00000396014;ENST00000540294	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.73705	0.3621	L	0.48642	1.525	0.58432	D	0.999999	D;P	0.71674	0.998;0.854	D;B	0.73708	0.981;0.141	T	0.67738	-0.5593	9	0.30078	T	0.28	-16.3648	18.1573	0.89696	0.0:0.0:1.0:0.0	.	306;307	Q9H1A3-2;Q9H1A3	.;METL9_HUMAN	I	307;306;271	.	ENSP00000350874:V307I	V	+	1	0	METTL9	21574216	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.544000	0.82117	2.894000	0.99253	0.655000	0.94253	GTT		0.473	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254465.1	NM_016025		29	44	0	0	0	1	0	29	44					A	21666715	G	A	21666715	3	1	435	1	0	0	0	0	1	0	0	0	9508	1145	40	1	937	1	METTL9	16	21666715	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	404857	21666715	68688038	6834	27759											
PDZD9	255762	broad.mit.edu	37	chr16	21995749	21995749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccctcacttctttcttgtCgtctctgtgaatcatcacgt	5	16	7	13	2	6	1	3	1	3	0	8	1	6	1	1	1	0	0	1	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:21995749C>T	ENST00000424898.2	-	4	696	c.634G>A	c.(634-636)Gac>Aac	p.D212N	PDZD9_ENST00000537222.2_Missense_Mutation_p.D152N|PDZD9_ENST00000286143.6_Missense_Mutation_p.D150N			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	212										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TCTTTCTTGTCGTCTCTGTGA	0.423																																						ENST00000286143.6																			0				breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						c.(448-450)Gac>Aac		PDZ domain containing 9							239	219	226					16																	21995749		2198	4300	6498	SO:0001583	missense	255762							g.chr16:21995749C>T	BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 65"	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.634G>A	16.37:g.21995749C>T	ENSP00000400514:p.Asp212Asn					PDZD9_ENST00000424898.2_Missense_Mutation_p.D212N|PDZD9_ENST00000537222.2_Missense_Mutation_p.D152N	p.D150N			Q8IXQ8	PDZD9_HUMAN			5	769	-			212					F5GWW8	Missense_Mutation	SNP	ENST00000424898.2	37	c.448G>A		.	.	.	.	.	.	.	.	.	.	C	2.935	-0.220250	0.06061	.	.	ENSG00000155714	ENST00000424898;ENST00000537222;ENST00000286143	T	0.44881	0.91	5.21	-1.79	0.07932	.	1.543180	0.03636	N	0.238678	T	0.22859	0.0552	N	0.19112	0.55	0.09310	N	1	B	0.16603	0.018	B	0.14023	0.01	T	0.08046	-1.0741	10	0.17832	T	0.49	0.0426	1.37	0.02209	0.2405:0.2968:0.3254:0.1373	.	150	Q8IXQ8-2	.	N	212;152;150	ENSP00000400514:D212N	ENSP00000286143:D150N	D	-	1	0	PDZD9	21903250	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.213000	0.09305	-0.059000	0.13154	-1.177000	0.01723	GAC		0.423	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381652.1	NM_173806		49	67	0	0	0	1	0	49	67					T	21995749	C	T	21995749	3	4	435	1	0	0	0	0	1	0	0	0	11706	884	31	2	164	2	PDZD9	16	21995749	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	329034	21995749	68359004	6835	27760											
EEF2K	29904	broad.mit.edu	37	chr16	22268671	22268671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgacccacagatccacaCggagacgggcactgactttg	11	6	10	14	2	0	4	0	2	0	2	1	5	1	4	2	2	0	1	2	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:22268671C>T	ENST00000263026.5	+	8	1340	c.866C>T	c.(865-867)aCg>aTg	p.T289M		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	289	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			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)		CAGATCCACACGGAGACGGGC	0.547																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(865-867)aCg>aTg		eukaryotic elongation factor-2 kinase							139	115	123					16																	22268671		2197	4300	6497	SO:0001583	missense	29904				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	g.chr16:22268671C>T	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.866C>T	16.37:g.22268671C>T	ENSP00000263026:p.Thr289Met						p.T289M	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	8	1340	+			289			Alpha-type protein kinase.		Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.866C>T	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893574	0.91889	.	.	ENSG00000103319	ENST00000263026	T	0.13420	2.59	5.87	5.87	0.94306	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.046170	0.85682	D	0.000000	T	0.50871	0.1641	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60821	-0.7187	10	0.87932	D	0	-7.1608	20.2192	0.98319	0.0:1.0:0.0:0.0	.	289	O00418	EF2K_HUMAN	M	289	ENSP00000263026:T289M	ENSP00000263026:T289M	T	+	2	0	EEF2K	22176172	1.000000	0.71417	0.966000	0.40874	0.732000	0.41865	7.288000	0.78691	2.780000	0.95670	0.655000	0.94253	ACG		0.547	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		10	35	0	0	0	1	0	10	35					T	22268671	C	T	22268671	3	4	435	1	0	0	0	0	1	0	0	0	4930	536	19	1	892	1	EEF2K	16	22268671	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	272922	22268671	68086082	6836	27761											
SCNN1G	6340	broad.mit.edu	37	chr16	23226476	23226476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctgctctgttgtctgcGtcatcgagatcatcgaggtc	6	13	12	10	3	4	2	2	1	2	1	7	4	4	2	0	1	3	3	0	1	0	1	rs143742457	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:23226476G>A	ENST00000300061.2	+	13	1779	c.1636G>A	c.(1636-1638)Gtc>Atc	p.V546I	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	546					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGTTGTCTGCGTCATCGAGAT	0.552													G|||	2	0.000399361	0	0	5008	,	,		19870	0		0.002	False		,,,				2504	0					ENST00000300061.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1636-1638)Gtc>Atc		sodium channel, non-voltage-gated 1, gamma subunit	Amiloride(DB00594)|Triamterene(DB00384)	G	ILE/VAL	0,4394		0,0,2197	118	97	104		1636	-0.2	0.8	16	dbSNP_134	104	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SCNN1G	NM_001039.3	29	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	benign	546/650	23226476	2,12992	2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23226476G>A	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1636G>A	16.37:g.23226476G>A	ENSP00000300061:p.Val546Ile						p.V546I	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	13	1779	+			546					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.1636G>A	CCDS10608.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	13.31	2.198463	0.38806	0.0	2.33E-4	ENSG00000166828	ENST00000300061	T	0.61510	0.1	5.22	-0.207	0.13189	.	0.264181	0.31734	N	0.007159	T	0.45816	0.1361	L	0.52266	1.64	0.36561	D	0.872407	B	0.16603	0.018	B	0.15052	0.012	T	0.35871	-0.9771	10	0.30854	T	0.27	-8.1294	9.7885	0.40690	0.3343:0.0:0.6657:0.0	.	546	P51170	SCNNG_HUMAN	I	546	ENSP00000300061:V546I	ENSP00000300061:V546I	V	+	1	0	SCNN1G	23133977	0.930000	0.31532	0.847000	0.33407	0.918000	0.54935	1.297000	0.33400	-0.262000	0.09392	0.561000	0.74099	GTC		0.552	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		12	19	0	0	0	1	0	12	19					A	23226476	G	A	23226476	3	1	435	1	0	0	0	0	1	0	0	0	13930	1145	40	1	1682	1	SCNN1G	16	23226476	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	957805	23226476	67128277	6837	27762											
COG7	91949	broad.mit.edu	37	chr16	23400346	23400346	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggtcttcagtagcgtcacGatgtgctggagggtgcggga	6	10	17	8	3	3	0	2	0	1	0	3	3	3	2	0	4	3	2	0	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:23400346G>A	ENST00000307149.5	-	17	2393	c.2208C>T	c.(2206-2208)atC>atT	p.I736I	COG7_ENST00000569635.1_5'Flank	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	736					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GTAGCGTCACGATGTGCTGGA	0.617																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(2206-2208)atC>atT		component of oligomeric golgi complex 7							87	69	75					16																	23400346		2197	4300	6497	SO:0001819	synonymous_variant	91949				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	g.chr16:23400346G>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.2208C>T	16.37:g.23400346G>A							p.I736I	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	17	2393	-			736					Q6UWU7	Silent	SNP	ENST00000307149.5	37	c.2208C>T	CCDS10610.1																																																																																				0.617	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			14	23	0	0	0	1	0	14	23					A	23400346	G	A	23400346	2	1	435	1	0	0	0	0	0	0	0	1	3663	1048	37	2		2	COG7	16	23400346	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	173870	23400346	66954407	6838	27763											
GGA2	23062	broad.mit.edu	37	chr16	23491977	23491977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaacatacctctggagacaGggatgtctcccaatgagctg	12	8	10	11	0	2	2	0	1	2	1	3	4	2	3	2	2	3	1	2	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:23491977G>T	ENST00000309859.4	-	10	1077	c.995C>A	c.(994-996)cCt>cAt	p.P332H	GGA2_ENST00000567468.1_Intron|GGA2_ENST00000569182.1_5'Flank	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	332	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TCTGGAGACAGGGATGTCTCC	0.502																																						ENST00000309859.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21						c.(994-996)cCt>cAt		golgi-associated, gamma adaptin ear containing, ARF binding protein 2							87	78	81					16																	23491977		2197	4300	6497	SO:0001583	missense	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23491977G>T	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.995C>A	16.37:g.23491977G>T	ENSP00000311962:p.Pro332His					GGA2_ENST00000567468.1_Intron	p.P332H	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	10	1077	-			332			Unstructured hinge.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	c.995C>A	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867837	0.72065	.	.	ENSG00000103365	ENST00000309859	T	0.17213	2.29	4.55	4.55	0.56014	.	0.556302	0.15929	N	0.237778	T	0.20088	0.0483	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	P	0.62813	0.907	T	0.11494	-1.0585	10	0.54805	T	0.06	-15.438	13.0089	0.58720	0.0:0.0:1.0:0.0	.	332	Q9UJY4	GGA2_HUMAN	H	332	ENSP00000311962:P332H	ENSP00000311962:P332H	P	-	2	0	GGA2	23399478	0.479000	0.25925	0.994000	0.49952	0.922000	0.55478	3.959000	0.56744	2.509000	0.84616	0.655000	0.94253	CCT		0.502	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			15	13	1	0	1.15088e-07	1	1.20771e-07	15	13					T	23491977	G	T	23491977	3	4	435	1	0	0	0	0	1	0	0	0	6353	1000	35	5	878	5	GGA2	16	23491977	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	91631	23491977	66862776	6839	27764											
GGA2	23062	broad.mit.edu	37	chr16	23497419	23497419	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaccttcacatggcttcGcacttcctccaccgcactga	8	9	6	18	2	1	1	1	1	0	0	4	1	3	1	4	1	1	4	4	1	0	3	rs370781819		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:23497419G>A	ENST00000309859.4	-	8	797	c.715C>T	c.(715-717)Cga>Tga	p.R239*	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	239	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		ACATGGCTTCGCACTTCCTCC	0.572																																						ENST00000309859.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21						c.(715-717)Cga>Tga		golgi-associated, gamma adaptin ear containing, ARF binding protein 2		G	stop/ARG	0,4394		0,0,2197	158	113	128		715	6.1	0.9	16		128	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	GGA2	NM_015044.4		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		239/614	23497419	1,12993	2197	4300	6497	SO:0001587	stop_gained	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23497419G>A	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.715C>T	16.37:g.23497419G>A	ENSP00000311962:p.Arg239*					GGA2_ENST00000567468.1_Intron	p.R239*	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	8	797	-			239			GAT.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Nonsense_Mutation	SNP	ENST00000309859.4	37	c.715C>T	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852144	0.91355	0.0	1.16E-4	ENSG00000103365	ENST00000309859	.	.	.	6.07	6.07	0.98685	.	0.474118	0.23960	N	0.042864	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-19.5865	13.0047	0.58696	0.0:0.0:0.8389:0.1611	.	.	.	.	X	239	.	ENSP00000311962:R239X	R	-	1	2	GGA2	23404920	0.018000	0.18449	0.925000	0.36789	0.989000	0.77384	1.624000	0.37018	2.884000	0.98904	0.655000	0.94253	CGA		0.572	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			45	42	0	0	0	1	0	45	42					A	23497419	G	A	23497419	4	1	435	1	0	0	0	0	0	1	0	0	6353	1095	38	1	1166	1	GGA2	16	23497419	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5442	23497419	66857334	6840	27765											
PALB2	79728	broad.mit.edu	37	chr16	23641340	23641340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtcattatcatcaggcGcaaccgtatttaaaggagta	12	11	9	9	2	3	0	3	0	0	0	3	1	3	1	2	2	1	3	2	2	6	5	rs141458731	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:23641340G>A	ENST00000261584.4	-	5	2287	c.2135C>T	c.(2134-2136)gCg>gTg	p.A712V		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	712			A -> V (in dbSNP:rs141458731). {ECO:0000269|PubMed:21618343}.		DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		ATCATCAGGCGCAACCGTATT	0.458			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					G|||	3	0.000599042	0	0.0029	5008	,	,		19740	0		0.001	False		,,,				2504	0					ENST00000261584.4			yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	"F, N, Mis"	partner and localizer of BRCA2			"L, O, E"		"Wilms tumor, medulloblastoma, AML ,breast"			0				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						c.(2134-2136)gCg>gTg	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2		G	VAL/ALA	0,4394		0,0,2197	124	121	122	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2135	-8.6	0	16	dbSNP_134	122	8,8592	5.7+/-21.5	0,8,4292	yes	missense	PALB2	NM_024675.3	64	0,8,6489	AA,AG,GG		0.093,0.0,0.0616	benign	712/1187	23641340	8,12986	2197	4300	6497	SO:0001583	missense	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23641340G>A		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2135C>T	16.37:g.23641340G>A	ENSP00000261584:p.Ala712Val						p.A712V	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	5	2287	-			712					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.2135C>T	CCDS32406.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	12.20	1.867597	0.32977	0.0	9.3E-4	ENSG00000083093	ENST00000261584	T	0.15718	2.4	5.96	-8.63	0.00878	.	1.588580	0.03065	N	0.156450	T	0.06690	0.0171	L	0.36672	1.1	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.21042	-1.0257	10	0.36615	T	0.2	1.4729	1.0116	0.01498	0.3584:0.293:0.1509:0.1977	.	712	Q86YC2	PALB2_HUMAN	V	712	ENSP00000261584:A712V	ENSP00000261584:A712V	A	-	2	0	PALB2	23548841	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.446000	0.02398	-1.384000	0.02103	-0.751000	0.03497	GCG		0.458	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		44	74	0	0	0	1	0	44	74					A	23641340	G	A	23641340	3	1	435	1	0	0	0	0	1	0	0	0	11406	1087	38	1	1461	1	PALB2	16	23641340	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	143921	23641340	66713413	6841	27766											
PLK1	5347	broad.mit.edu	37	chr16	23700655	23700655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgcagtacatagagcGtgacggcactgagtcctacc	10	7	11	13	2	0	3	0	2	0	1	1	3	1	3	3	1	5	3	3	1	3	3	rs199640055		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:23700655G>A	ENST00000300093.4	+	8	1478	c.1367G>A	c.(1366-1368)cGt>cAt	p.R456H	CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	456	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			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)		TACATAGAGCGTGACGGCACT	0.552													G|||	1	0.000199681	0	0	5008	,	,		19199	0.001		0	False		,,,				2504	0				Colon(12;240 564 27038 33155)	ENST00000300093.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1366-1368)cGt>cAt		polo-like kinase 1							139	110	120					16																	23700655		2197	4300	6497	SO:0001583	missense	5347				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	g.chr16:23700655G>A		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"polo-like kinase (Drosophila)"	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.1367G>A	16.37:g.23700655G>A	ENSP00000300093:p.Arg456His						p.R456H	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	8	1478	+			456			POLO box 1.		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.1367G>A	CCDS10616.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.67	2.305648	0.40795	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.13901	2.55	5.3	2.22	0.28083	POLO box duplicated domain (2);	0.220156	0.44483	D	0.000453	T	0.16938	0.0407	L	0.54965	1.715	0.41641	D	0.989075	D	0.54601	0.967	P	0.48677	0.586	T	0.02059	-1.1221	10	0.72032	D	0.01	-10.0954	7.4488	0.27227	0.1363:0.1545:0.7092:0.0	.	456	P53350	PLK1_HUMAN	H	456;359	ENSP00000300093:R456H	ENSP00000300093:R456H	R	+	2	0	PLK1	23608156	1.000000	0.71417	0.850000	0.33497	0.021000	0.10359	3.657000	0.54474	1.224000	0.43551	-0.182000	0.12963	CGT		0.552	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		26	21	0	0	0	1	0	26	21					A	23700655	G	A	23700655	3	1	435	1	0	0	0	0	1	0	0	0	12094	1145	40	1	1397	1	PLK1	16	23700655	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59315	23700655	66654098	6842	27767											
PLK1	5347	broad.mit.edu	37	chr16	23700886	23700886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgccaacatcacgccGcgcgaaggtgatgagctcgc	9	5	14	13	5	1	2	1	2	0	0	2	3	1	2	2	2	3	2	2	2	2	0	rs139428942	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:23700886G>A	ENST00000300093.4	+	9	1608	c.1497G>A	c.(1495-1497)ccG>ccA	p.P499P	CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	499	Linker.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			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)		ACATCACGCCGCGCGAAGGTG	0.577																																					Colon(12;240 564 27038 33155)	ENST00000300093.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1495-1497)ccG>ccA		polo-like kinase 1		G		3,4391	6.2+/-15.9	0,3,2194	48	49	49		1497	-10.9	0	16	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PLK1	NM_005030.3		0,5,6492	AA,AG,GG		0.0233,0.0683,0.0385		499/604	23700886	5,12989	2197	4300	6497	SO:0001819	synonymous_variant	5347				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	g.chr16:23700886G>A		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"polo-like kinase (Drosophila)"	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.1497G>A	16.37:g.23700886G>A							p.P499P	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	9	1608	+			499			Linker.		Q15153|Q99746	Silent	SNP	ENST00000300093.4	37	c.1497G>A	CCDS10616.1																																																																																				0.577	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		17	25	0	0	0	1	0	17	25					A	23700886	G	A	23700886	2	1	435	1	0	0	0	0	0	0	0	1	12094	1074	38	1		1	PLK1	16	23700886	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	231	23700886	66653867	6843	27768											
ERN2	5347	broad.mit.edu	37	chr16	23702664	23702664	+	IGR	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctcgtgccagttgtccCggaccactgcgcagcctccc	4	9	11	17	3	0	0	0	0	0	0	3	1	2	1	5	1	4	3	5	1	0	1	rs372092990		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:23702664C>A	ENST00000300093.4	+	0	2227				ERN2_ENST00000457008.2_Missense_Mutation_p.R768L|CTD-2196E14.5_ENST00000566143.1_RNA|ERN2_ENST00000256797.4_Missense_Mutation_p.R868L	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			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)		CCAGTTGTCCCGGACCACTGC	0.682																																					Colon(12;240 564 27038 33155)	ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(2602-2604)cGg>cTg		endoplasmic reticulum to nucleus signaling 2							40	41	41					16																	23702664		2197	4300	6497	SO:0001628	intergenic_variant	10595				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	g.chr16:23702664C>A		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"polo-like kinase (Drosophila)"	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23702664C>A						ERN2_ENST00000457008.2_Missense_Mutation_p.R768L	p.R868L	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	20	2771	-			820			KEN.		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.2603G>T	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082181	0.36758	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.29917	1.55;1.55	5.81	4.86	0.63082	.	0.066246	0.64402	D	0.000008	T	0.52273	0.1724	M	0.69823	2.125	0.53688	D	0.999976	D;D	0.89917	0.999;1.0	D;D	0.97110	0.975;1.0	T	0.50136	-0.8863	10	0.32370	T	0.25	.	12.7075	0.57070	0.0:0.9203:0.0:0.0797	.	768;820	E7ETG2;A5YM65	.;.	L	868;768	ENSP00000256797:R868L;ENSP00000413812:R768L	ENSP00000256797:R868L	R	-	2	0	ERN2	23610165	0.272000	0.24172	0.928000	0.36995	0.036000	0.12997	0.903000	0.28475	1.463000	0.47967	-0.140000	0.14226	CGG		0.682	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		15	9	1	0	3.45872e-05	1	3.56558e-05	15	9					A	23702664	C	A	23702664	1	1	435	0	1	0	0	0	0	0	0	0	5238	652	23	5		5	ERN2	16	23702664	IGR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1778	23702664	66652089	6844	27769											
TNRC6A	27327	broad.mit.edu	37	chr16	24808870	24808870	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaatccatttgttaaacaGttttcaaacatcagtttttc	14	17	3	7	0	2	0	2	0	0	0	4	0	3	0	1	0	2	3	1	0	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:24808870G>A	ENST00000395799.3	+	10	3750	c.3621G>A	c.(3619-3621)caG>caA	p.Q1207Q	TNRC6A_ENST00000315183.7_Silent_p.Q1207Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1207	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			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)		TTGTTAAACAGTTTTCAAACA	0.338																																						ENST00000395799.3																			0				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						c.(3619-3621)caG>caA		trinucleotide repeat containing 6A							147	144	145					16																	24808870		2197	4300	6497	SO:0001819	synonymous_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24808870G>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3621G>A	16.37:g.24808870G>A						TNRC6A_ENST00000315183.7_Silent_p.Q1207Q	p.Q1207Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	10	3750	+			1207			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	c.3621G>A	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	8.444	0.851492	0.17034	.	.	ENSG00000090905	ENST00000450465	.	.	.	6.02	5.06	0.68205	.	.	.	.	.	T	0.61148	0.2324	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57069	-0.7874	4	.	.	.	-5.3667	10.142	0.42740	0.1976:0.0:0.8024:0.0	.	.	.	.	I	147	.	.	V	+	1	0	TNRC6A	24716371	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.705000	0.47127	2.850000	0.98022	0.650000	0.86243	GTT		0.338	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		11	21	0	0	0	1	0	11	21					A	24808870	G	A	24808870	2	1	435	1	0	0	0	0	0	0	0	1	16337	1020	36	3		3	TNRC6A	16	24808870	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1106206	24808870	65545883	6845	27770											
ARHGAP17	55114	broad.mit.edu	37	chr16	24953340	24953340	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagtctccttccatcacCgccatgctagcaggccgctt	8	9	7	17	2	2	0	1	0	1	0	4	0	3	0	6	1	2	3	6	1	2	3	rs150261398	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:24953340C>T	ENST00000289968.6	-	16	1527	c.1458G>A	c.(1456-1458)gcG>gcA	p.A486A	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.A486A	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	486					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			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)		CTTCCATCACCGCCATGCTAG	0.502													C|||	2	0.000399361	0.0015	0	5008	,	,		22385	0		0	False		,,,				2504	0					ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(1456-1458)gcG>gcA		Rho GTPase activating protein 17		C	,	1,4393	2.1+/-5.4	0,1,2196	115	104	108		1458,1458	-5.5	1	16	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ARHGAP17	NM_001006634.1,NM_018054.4	,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,	486/882,486/804	24953340	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24953340C>T	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"Rho GTPase activating proteins"	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1458G>A	16.37:g.24953340C>T						ARHGAP17_ENST00000303665.5_Silent_p.A486A|ARHGAP17_ENST00000441763.2_3'UTR	p.A486A	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	16	1527	-			486					A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	37	c.1458G>A	CCDS32409.1																																																																																				0.502	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		29	50	0	0	0	1	0	29	50					T	24953340	C	T	24953340	2	4	435	1	0	0	0	0	0	0	0	1	867	639	23	2		2	ARHGAP17	16	24953340	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	144470	24953340	65401413	6846	27771											
LCMT1	51451	broad.mit.edu	37	chr16	25139801	25139801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttctcccttccaggtttgCagtaagcattggctactggc	6	15	9	11	0	1	0	0	0	1	0	3	0	2	0	2	3	3	5	2	3	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:25139801C>T	ENST00000399069.3	+	2	274	c.119C>T	c.(118-120)gCa>gTa	p.A40V	LCMT1_ENST00000380966.4_Missense_Mutation_p.A40V	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	40					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	TCCAGGTTTGCAGTAAGCATT	0.478																																					Colon(200;565 2072 24396 47922 50898)	ENST00000399069.3																			0											c.(118-120)gCa>gTa		leucine carboxyl methyltransferase 1	L-Leucine(DB00149)						55	53	53					16																	25139801		1927	4139	6066	SO:0001583	missense	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25139801C>T	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"protein phosphatase methyltransferase 1"	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.119C>T	16.37:g.25139801C>T	ENSP00000382021:p.Ala40Val					LCMT1_ENST00000380966.4_Missense_Mutation_p.A40V	p.A40V	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	2	274	+			40					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	c.119C>T	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694975	0.88830	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.24723	1.84;1.84	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70238	-0.4927	10	0.72032	D	0.01	-10.6611	15.2774	0.73753	0.0:1.0:0.0:0.0	.	40;40	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	V	40;40;57	ENSP00000382021:A40V;ENSP00000370353:A40V	ENSP00000370349:A57V	A	+	2	0	LCMT1	25047302	1.000000	0.71417	0.997000	0.53966	0.884000	0.51177	6.698000	0.74608	2.188000	0.69820	0.561000	0.74099	GCA		0.478	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		6	7	0	0	0	1	0	6	7					T	25139801	C	T	25139801	3	4	435	1	0	0	0	0	1	0	0	0	8678	710	25	3	125	3	LCMT1	16	25139801	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	186461	25139801	65214952	6847	27772											
IL21R	50615	broad.mit.edu	37	chr16	27460093	27460093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacagtgaggagagggatcGgccatacggcctggtgtcca	9	8	15	9	2	0	2	0	1	0	1	2	4	1	3	3	5	2	0	3	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:27460093G>A	ENST00000337929.3	+	9	1579	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q	IL21R_ENST00000564089.1_Missense_Mutation_p.R369Q|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.R369Q|IL21R_ENST00000395755.1_Missense_Mutation_p.R369Q	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	369					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GAGAGGGATCGGCCATACGGC	0.627			T	BCL6	NHL																																	ENST00000337929.3				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(1105-1107)cGg>cAg		interleukin 21 receptor							64	62	63					16																	27460093		2197	4300	6497	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27460093G>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1106G>A	16.37:g.27460093G>A	ENSP00000338010:p.Arg369Gln					IL21R_ENST00000564089.1_Missense_Mutation_p.R369Q|IL21R_ENST00000395754.4_Missense_Mutation_p.R369Q|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395755.1_Missense_Mutation_p.R369Q	p.R369Q	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN			9	1579	+			369					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.1106G>A	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091072	0.55968	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.37584	1.19;1.19;1.19	5.07	3.89	0.44902	.	0.502768	0.22040	N	0.065461	T	0.39911	0.1096	M	0.67953	2.075	0.35686	D	0.814487	D	0.57257	0.979	P	0.47827	0.558	T	0.50775	-0.8788	10	0.34782	T	0.22	-43.8728	9.3222	0.37971	0.1149:0.0:0.8851:0.0	.	369	Q9HBE5	IL21R_HUMAN	Q	369	ENSP00000338010:R369Q;ENSP00000379104:R369Q;ENSP00000379103:R369Q	ENSP00000338010:R369Q	R	+	2	0	IL21R	27367594	0.793000	0.28825	0.998000	0.56505	0.094000	0.18550	0.910000	0.28571	2.356000	0.79943	0.462000	0.41574	CGG		0.627	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		5	45	0	0	0	1	0	5	45					A	27460093	G	A	27460093	3	1	435	1	0	0	0	0	1	0	0	0	7671	1116	39	2	1136	2	IL21R	16	27460093	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2320292	27460093	62894660	6848	27773											
GTF3C1	2975	broad.mit.edu	37	chr16	27503740	27503740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagttcaggacatagaggcGcctctcgaagggccggctgc	8	7	15	11	3	2	2	1	1	1	1	3	4	2	3	2	4	1	2	2	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:27503740G>A	ENST00000356183.4	-	19	3085	c.3070C>T	c.(3070-3072)Cgc>Tgc	p.R1024C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1024C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1024					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACATAGAGGCGCCTCTCGAAG	0.532																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(3070-3072)Cgc>Tgc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							64	71	68					16																	27503740		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27503740G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3070C>T	16.37:g.27503740G>A	ENSP00000348510:p.Arg1024Cys					GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1024C	p.R1024C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			19	3085	-			1024					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.3070C>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103175	0.94245	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26660	1.72	5.81	5.81	0.92471	.	0.058101	0.64402	D	0.000001	T	0.54902	0.1887	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.55648	-0.8108	10	0.87932	D	0	-22.5809	19.693	0.96009	0.0:0.0:1.0:0.0	.	1024;1024	Q12789;Q12789-3	TF3C1_HUMAN;.	C	1024;1022	ENSP00000348510:R1024C	ENSP00000348510:R1024C	R	-	1	0	GTF3C1	27411241	1.000000	0.71417	0.923000	0.36655	0.771000	0.43674	9.476000	0.97823	2.746000	0.94184	0.655000	0.94253	CGC		0.532	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		16	34	0	0	0	1	0	16	34					A	27503740	G	A	27503740	3	1	435	1	0	0	0	0	1	0	0	0	6872	1087	38	1	3335	1	GTF3C1	16	27503740	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43647	27503740	62851013	6849	27774											
GTF3C1	2975	broad.mit.edu	37	chr16	27539921	27539921	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgagactctgcattacctTtctttgtcttacaaggtcca	8	15	7	11	0	3	1	0	1	3	1	4	2	4	1	2	1	3	2	2	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:27539921T>C	ENST00000356183.4	-	6	986	c.971A>G	c.(970-972)aAa>aGa	p.K324R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.K324R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	324					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGCATTACCTTTCTTTGTCTT	0.502																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(970-972)aAa>aGa		general transcription factor IIIC, polypeptide 1, alpha 220kDa							112	108	110					16																	27539921		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27539921T>C	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.971A>G	16.37:g.27539921T>C	ENSP00000348510:p.Lys324Arg					GTF3C1_ENST00000561623.1_Missense_Mutation_p.K324R	p.K324R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			6	986	-			324					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.971A>G	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.780251	0.49891	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26660	1.72	5.07	5.07	0.68467	.	0.235957	0.42821	D	0.000642	T	0.14184	0.0343	N	0.12746	0.255	0.36565	D	0.872689	P;P	0.48230	0.907;0.886	B;B	0.40940	0.247;0.344	T	0.12400	-1.0549	10	0.41790	T	0.15	-4.9642	9.3906	0.38370	0.0:0.0815:0.0:0.9185	.	324;324	Q12789;Q12789-3	TF3C1_HUMAN;.	R	324;322	ENSP00000348510:K324R	ENSP00000348510:K324R	K	-	2	0	GTF3C1	27447422	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.473000	0.53122	2.037000	0.60232	0.533000	0.62120	AAA		0.502	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		25	42	0	0	0	1	0	25	42					C	27539921	T	C	27539921	3	2	435	1	0	0	0	0	1	0	0	0	6872	1841	64	4	5486	4	GTF3C1	16	27539921	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	36181	27539921	62814832	6850	27775											
KIAA0556	23247	broad.mit.edu	37	chr16	27761416	27761416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaggacccaggatgacatGcatgtctggctggccccctt	9	8	11	13	0	1	1	0	1	1	0	1	3	1	3	3	4	2	2	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:27761416G>A	ENST00000261588.4	+	16	3154	c.3135G>A	c.(3133-3135)atG>atA	p.M1045I		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1045						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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						AGGATGACATGCATGTCTGGC	0.557																																						ENST00000261588.4																			0				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						c.(3133-3135)atG>atA		KIAA0556							87	76	80					16																	27761416		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27761416G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3135G>A	16.37:g.27761416G>A	ENSP00000261588:p.Met1045Ile						p.M1045I	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			16	3154	+			1045					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.3135G>A	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928234	0.73327	.	.	ENSG00000047578	ENST00000261588	T	0.13657	2.57	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	L	0.42008	1.315	0.50813	D	0.999895	P	0.36110	0.537	B	0.40009	0.316	T	0.01235	-1.1410	10	0.48119	T	0.1	-20.203	18.9768	0.92740	0.0:0.0:1.0:0.0	.	1045	O60303	K0556_HUMAN	I	1045	ENSP00000261588:M1045I	ENSP00000261588:M1045I	M	+	3	0	KIAA0556	27668917	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.650000	0.83521	2.625000	0.88918	0.655000	0.94253	ATG		0.557	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		10	19	0	0	0	1	0	10	19					A	27761416	G	A	27761416	3	1	435	1	0	0	0	0	1	0	0	0	8183	1319	46	3	3197	3	KIAA0556	16	27761416	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	221495	27761416	62593337	6851	27776											
KIAA0556	23247	broad.mit.edu	37	chr16	27761475	27761475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatcaccattgacttcaCgcacccttgccacgttgccc	7	10	5	19	2	2	1	2	1	0	0	3	1	3	1	5	0	2	2	5	0	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:27761475C>T	ENST00000261588.4	+	16	3213	c.3194C>T	c.(3193-3195)aCg>aTg	p.T1065M		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1065						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T1065M(2)		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						ATTGACTTCACGCACCCTTGC	0.537																																						ENST00000261588.4																			2	Substitution - Missense(2)	p.T1065M(2)	ovary(2)	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						c.(3193-3195)aCg>aTg		KIAA0556							99	89	92					16																	27761475		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27761475C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3194C>T	16.37:g.27761475C>T	ENSP00000261588:p.Thr1065Met						p.T1065M	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			16	3213	+			1065					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.3194C>T	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	c	5.055	0.195815	0.09599	.	.	ENSG00000047578	ENST00000261588	T	0.13901	2.55	5.32	-10.4	0.00318	.	1.269500	0.05103	N	0.487448	T	0.09818	0.0241	L	0.40543	1.245	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.27706	-1.0066	10	0.46703	T	0.11	-3.206	9.0779	0.36534	0.1543:0.2942:0.0:0.5515	.	1065	O60303	K0556_HUMAN	M	1065	ENSP00000261588:T1065M	ENSP00000261588:T1065M	T	+	2	0	KIAA0556	27668976	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.514000	0.06298	-2.123000	0.00823	-0.739000	0.03532	ACG		0.537	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		16	19	0	0	0	1	0	16	19					T	27761475	C	T	27761475	3	4	435	1	0	0	0	0	1	0	0	0	8183	536	19	1	3256	1	KIAA0556	16	27761475	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	59	27761475	62593278	6852	27777											
KIAA0556	23247	broad.mit.edu	37	chr16	27784466	27784466	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggggcgacccctactaCatcggcctcaccggcctgga	7	6	12	16	3	1	0	1	0	0	0	2	2	1	1	5	5	3	1	5	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:27784466C>T	ENST00000261588.4	+	23	4264	c.4245C>T	c.(4243-4245)taC>taT	p.Y1415Y		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1415						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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						ACCCCTACTACATCGGCCTCA	0.473																																						ENST00000261588.4																			0				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						c.(4243-4245)taC>taT		KIAA0556							53	50	51					16																	27784466		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27784466C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4245C>T	16.37:g.27784466C>T							p.Y1415Y	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			23	4264	+			1415					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.4245C>T	CCDS32415.1																																																																																				0.473	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		5	29	0	0	0	1	0	5	29					T	27784466	C	T	27784466	2	4	435	1	0	0	0	0	0	0	0	1	8183	489	17	3		3	KIAA0556	16	27784466	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	22991	27784466	62570287	6853	27778											
KIAA0556	23247	broad.mit.edu	37	chr16	27788316	27788316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcaaactgtggaattatgCgaaaacaccccatcgagggg	14	7	11	9	2	1	0	1	0	0	0	2	4	1	1	2	3	3	0	2	3	5	1	rs150197704		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:27788316C>T	ENST00000261588.4	+	25	4536	c.4517C>T	c.(4516-4518)gCg>gTg	p.A1506V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1506						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A1506V(2)		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						TGGAATTATGCGAAAACACCC	0.443													C|||	1	0.000199681	0	0	5008	,	,		19388	0		0	False		,,,				2504	0.001					ENST00000261588.4																			2	Substitution - Missense(2)	p.A1506V(2)	endometrium(2)	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						c.(4516-4518)gCg>gTg		KIAA0556		C	VAL/ALA	0,4394		0,0,2197	189	185	186		4517	5.2	0.3	16	dbSNP_134	186	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA0556	NM_015202.2	64	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	1506/1619	27788316	1,12993	2197	4300	6497	SO:0001583	missense	23247							g.chr16:27788316C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4517C>T	16.37:g.27788316C>T	ENSP00000261588:p.Ala1506Val						p.A1506V	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			25	4536	+			1506					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.4517C>T	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581273	0.65992	0.0	1.16E-4	ENSG00000047578	ENST00000261588	T	0.14144	2.53	5.24	5.24	0.73138	.	0.144733	0.47852	D	0.000217	T	0.15912	0.0383	L	0.59436	1.845	0.31576	N	0.655686	P	0.40000	0.698	B	0.31245	0.126	T	0.10428	-1.0630	10	0.52906	T	0.07	-6.9936	18.4618	0.90741	0.0:1.0:0.0:0.0	.	1506	O60303	K0556_HUMAN	V	1506	ENSP00000261588:A1506V	ENSP00000261588:A1506V	A	+	2	0	KIAA0556	27695817	1.000000	0.71417	0.278000	0.24718	0.988000	0.76386	5.702000	0.68332	2.445000	0.82738	0.561000	0.74099	GCG		0.443	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		14	176	0	0	0	1	0	14	176					T	27788316	C	T	27788316	3	4	435	1	0	0	0	0	1	0	0	0	8183	768	27	1	4615	1	KIAA0556	16	27788316	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3850	27788316	62566437	6854	27779											
XPO6	23214	broad.mit.edu	37	chr16	28115914	28115914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attctccatctgctcctcagCgatccccctctggacactgg	6	11	7	17	1	4	0	1	0	3	0	7	2	6	1	4	2	2	1	4	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:28115914C>T	ENST00000304658.5	-	21	3399	c.2899G>A	c.(2899-2901)Gct>Act	p.A967T	XPO6_ENST00000565698.1_Missense_Mutation_p.A953T	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	967					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TGCTCCTCAGCGATCCCCCTC	0.582																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(2899-2901)Gct>Act		exportin 6							72	76	75					16																	28115914		2064	4207	6271	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28115914C>T	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2899G>A	16.37:g.28115914C>T	ENSP00000302790:p.Ala967Thr					XPO6_ENST00000565698.1_Missense_Mutation_p.A953T	p.A967T	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			21	3399	-			967					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.2899G>A	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	c	1.961	-0.438759	0.04636	.	.	ENSG00000169180	ENST00000304658	T	0.66638	-0.22	6.03	3.06	0.35304	Armadillo-type fold (1);	0.356387	0.31290	N	0.007901	T	0.40196	0.1107	N	0.19112	0.55	0.09310	N	1	B;P	0.36144	0.398;0.539	B;B	0.25614	0.038;0.062	T	0.22243	-1.0222	10	0.14656	T	0.56	-3.5008	7.2489	0.26138	0.1245:0.6687:0.0:0.2067	.	967;967	B7ZM10;Q96QU8	.;XPO6_HUMAN	T	967	ENSP00000302790:A967T	ENSP00000302790:A967T	A	-	1	0	XPO6	28023415	0.059000	0.20769	0.003000	0.11579	0.367000	0.29736	0.560000	0.23500	0.161000	0.19458	-2.366000	0.00237	GCT		0.582	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		16	17	0	0	0	1	0	16	17					T	28115914	C	T	28115914	3	4	435	1	0	0	0	0	1	0	0	0	17445	768	27	1	494	1	XPO6	16	28115914	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	327598	28115914	62238839	6855	27780											
XPO6	23214	broad.mit.edu	37	chr16	28117489	28117489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaaacttctccaccacccGgcagcctgtgctgccctcgt	7	8	8	18	2	1	1	0	0	1	1	3	1	1	1	5	1	4	2	5	1	1	1	rs368314934		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:28117489G>A	ENST00000304658.5	-	20	3159	c.2659C>T	c.(2659-2661)Cgg>Tgg	p.R887W	XPO6_ENST00000565698.1_Missense_Mutation_p.R873W	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	887					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCCACCACCCGGCAGCCTGTG	0.597																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(2659-2661)Cgg>Tgg		exportin 6		G	TRP/ARG	0,3980		0,0,1990	49	57	54		2659	4.7	1	16		54	1,8337		0,1,4168	no	missense	XPO6	NM_015171.2	101	0,1,6158	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	887/1126	28117489	1,12317	1990	4169	6159	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28117489G>A	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2659C>T	16.37:g.28117489G>A	ENSP00000302790:p.Arg887Trp					XPO6_ENST00000565698.1_Missense_Mutation_p.R873W	p.R887W	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			20	3159	-			887					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.2659C>T	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737200	0.69304	0.0	1.2E-4	ENSG00000169180	ENST00000304658	T	0.67698	-0.28	5.64	4.67	0.58626	Armadillo-like helical (1);Armadillo-type fold (1);	0.120552	0.56097	D	0.000038	T	0.65585	0.2705	L	0.29908	0.895	0.47547	D	0.999455	D;D	0.76494	0.998;0.999	P;P	0.53185	0.634;0.72	T	0.69723	-0.5068	10	0.66056	D	0.02	-22.0509	13.8322	0.63389	0.0:0.0:0.8457:0.1543	.	887;887	B7ZM10;Q96QU8	.;XPO6_HUMAN	W	887	ENSP00000302790:R887W	ENSP00000302790:R887W	R	-	1	2	XPO6	28024990	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	3.634000	0.54302	1.485000	0.48380	0.561000	0.74099	CGG		0.597	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		13	23	0	0	0	1	0	13	23					A	28117489	G	A	28117489	3	1	435	1	0	0	0	0	1	0	0	0	17445	1115	39	2	738	2	XPO6	16	28117489	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1575	28117489	62237264	6856	27781											
CLN3	1201	broad.mit.edu	37	chr16	28498783	28498783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccacacactcaccacacaGgctggtccccacagaatgag	14	4	7	16	0	1	2	1	1	0	1	2	2	2	2	4	2	1	1	4	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:28498783G>T	ENST00000569430.1	-	8	1273	c.454C>A	c.(454-456)Ctg>Atg	p.L152M	CLN3_ENST00000357076.5_Missense_Mutation_p.L152M|CLN3_ENST00000357857.9_Missense_Mutation_p.L98M|CLN3_ENST00000333496.9_Missense_Mutation_p.L128M|CLN3_ENST00000357806.7_Missense_Mutation_p.P125H|CLN3_ENST00000359984.7_Missense_Mutation_p.L152M|CLN3_ENST00000568224.1_Missense_Mutation_p.L74M|CLN3_ENST00000565316.1_Missense_Mutation_p.L152M|CLN3_ENST00000355477.5_Missense_Mutation_p.L152M|CLN3_ENST00000354630.5_Missense_Mutation_p.L152M|CLN3_ENST00000567963.1_Missense_Mutation_p.L152M|CLN3_ENST00000395653.4_Missense_Mutation_p.L52M|CLN3_ENST00000360019.2_Missense_Mutation_p.L152M|CLN3_ENST00000535392.1_Missense_Mutation_p.L74M			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	152					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TCACCACACAGGCTGGTCCCC	0.582																																						ENST00000569430.1																			0				breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						c.(454-456)Ctg>Atg		ceroid-lipofuscinosis, neuronal 3							97	74	82					16																	28498783		2197	4300	6497	SO:0001583	missense	1201				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	g.chr16:28498783G>T	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"juvenile neuronal ceroid lipofuscinosis"	607042	"Batten, Spielmeyer-Vogt disease"	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.454C>A	16.37:g.28498783G>T	ENSP00000454229:p.Leu152Met					CLN3_ENST00000333496.9_Missense_Mutation_p.L128M|CLN3_ENST00000565316.1_Missense_Mutation_p.L152M|CLN3_ENST00000359984.7_Missense_Mutation_p.L152M|CLN3_ENST00000395653.4_Missense_Mutation_p.L52M|CLN3_ENST00000360019.2_Missense_Mutation_p.L152M|CLN3_ENST00000357806.7_Missense_Mutation_p.P125H|CLN3_ENST00000357857.9_Missense_Mutation_p.L98M|CLN3_ENST00000568224.1_Missense_Mutation_p.L74M|CLN3_ENST00000354630.5_Missense_Mutation_p.L152M|CLN3_ENST00000567963.1_Missense_Mutation_p.L152M|CLN3_ENST00000355477.5_Missense_Mutation_p.L152M|CLN3_ENST00000357076.5_Missense_Mutation_p.L152M|CLN3_ENST00000535392.1_Missense_Mutation_p.L74M	p.L152M			Q13286	CLN3_HUMAN			8	1273	-			152					B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	c.454C>A	CCDS10632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.32|18.32	3.597716|3.597716	0.66332|0.66332	.|.	.|.	ENSG00000188603|ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357076|ENST00000333496;ENST00000357806	D;D;D;D;D;D;D;D|D	0.98075|0.93763	-4.7;-4.7;-4.7;-4.7;-4.7;-4.7;-4.7;-4.7|-3.28	5.53|5.53	4.54|4.54	0.55810|0.55810	Major facilitator superfamily domain, general substrate transporter (1);|.	0.063513|.	0.64402|.	D|.	0.000008|.	D|D	0.91570|0.91570	0.7337|0.7337	L|L	0.54908|0.54908	1.71|1.71	0.45161|0.45161	D|D	0.998173|0.998173	P;D;P;D;P;D;D;D;D|B;B;B	0.65815|0.33345	0.948;0.975;0.949;0.991;0.898;0.962;0.962;0.984;0.995|0.399;0.399;0.409	P;P;P;P;P;P;P;P;D|B;B;B	0.63381|0.39503	0.754;0.677;0.73;0.861;0.815;0.677;0.78;0.793;0.914|0.301;0.301;0.167	D|D	0.90308|0.90308	0.4335|0.4335	10|9	0.36615|0.72032	T|D	0.2|0.01	-8.3958|-8.3958	9.4351|9.4351	0.38635|0.38635	0.1048:0.0:0.8952:0.0|0.1048:0.0:0.8952:0.0	.|.	52;128;152;152;203;98;52;152;152|71;101;125	B4DFT5;B4DXL3;Q13286-3;Q13286-4;B4DIA8;O95086;B4DMY6;Q13286-2;Q13286|O95093;O95090;O95089	.;.;.;.;.;.;.;.;CLN3_HUMAN|.;.;.	M|H	74;152;152;152;152;98;52;152|101;125	ENSP00000443221:L74M;ENSP00000353073:L152M;ENSP00000353116:L152M;ENSP00000346650:L152M;ENSP00000347660:L152M;ENSP00000350523:L98M;ENSP00000379014:L52M;ENSP00000349586:L152M|ENSP00000350457:P125H	ENSP00000346650:L152M|ENSP00000329171:P101H	L|P	-|-	1|2	2|0	CLN3|CLN3	28406284|28406284	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	1.809000|1.809000	0.38922|0.38922	1.242000|1.242000	0.43836|0.43836	-0.354000|-0.354000	0.07668|0.07668	CTG|CCT		0.582	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			8	10	1	0	1.76689e-08	1	1.86465e-08	8	10					T	28498783	G	T	28498783	3	4	435	1	0	0	0	0	1	0	0	0	3543	991	35	5	902	5	CLN3	16	28498783	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	381294	28498783	61855970	6857	27782											
TUFM	7284	broad.mit.edu	37	chr16	28854382	28854382	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatagtccggttgccatctcGcagggtgaaacgctggcctt	8	10	12	11	3	1	1	0	1	1	0	3	1	2	1	3	3	2	3	3	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:28854382G>A	ENST00000313511.3	-	10	1420	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	MIR4721_ENST00000577590.1_RNA	NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	425					translational elongation (GO:0006414)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation elongation factor activity (GO:0003746)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						TTGCCATCTCGCAGGGTGAAA	0.532																																						ENST00000313511.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(1282-1284)Cga>Tga		Tu translation elongation factor, mitochondrial							144	122	129					16																	28854382		2197	4300	6497	SO:0001587	stop_gained	7284					mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr16:28854382G>A	L38995	CCDS10642.1	16p11.2	2010-10-26			ENSG00000178952	ENSG00000178952			12420	protein-coding gene	gene with protein product		602389				9332382, 9545647	Standard	NM_003321		Approved	EFTu, EF-TuMT, EFTU	uc002drh.2	P49411	OTTHUMG00000097039	ENST00000313511.3:c.1282C>T	16.37:g.28854382G>A	ENSP00000322439:p.Arg428*						p.R428*	NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN			10	1420	-			425					O15276	Nonsense_Mutation	SNP	ENST00000313511.3	37	c.1282C>T	CCDS10642.1	.	.	.	.	.	.	.	.	.	.	G	34	5.317895	0.95682	.	.	ENSG00000178952	ENST00000313511	.	.	.	4.92	-1.35	0.09114	.	0.067936	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4833	15.1575	0.72755	0.0:0.0:0.3974:0.6026	.	.	.	.	X	428	.	ENSP00000322439:R428X	R	-	1	2	TUFM	28761883	1.000000	0.71417	0.919000	0.36401	0.914000	0.54420	1.011000	0.29911	-0.058000	0.13177	-0.831000	0.03077	CGA		0.532	TUFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214140.1	NM_003321		31	35	0	0	0	1	0	31	35					A	28854382	G	A	28854382	4	1	435	1	0	0	0	0	0	1	0	0	16768	1095	38	1	89	1	TUFM	16	28854382	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	355599	28854382	61500371	6858	27783											
ATP2A1	487	broad.mit.edu	37	chr16	28913388	28913388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacctcatttcctccaacGtgggcgaggtggtctggtga	6	11	13	11	2	2	1	1	1	1	0	4	2	4	1	3	4	2	1	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:28913388G>A	ENST00000357084.3	+	16	2572	c.2305G>A	c.(2305-2307)Gtg>Atg	p.V769M	ATP2A1_ENST00000536376.1_Missense_Mutation_p.V644M|ATP2A1_ENST00000395503.4_Missense_Mutation_p.V769M	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	769					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			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						TTCCTCCAACGTGGGCGAGGT	0.617																																						ENST00000395503.4																			0				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						c.(2305-2307)Gtg>Atg		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							140	102	114					16																	28913388		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28913388G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2305G>A	16.37:g.28913388G>A	ENSP00000349595:p.Val769Met					ATP2A1_ENST00000357084.3_Missense_Mutation_p.V769M|ATP2A1_ENST00000536376.1_Missense_Mutation_p.V644M	p.V769M	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			16	2489	+			769					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.2305G>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740429	0.89573	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.98120	-4.73;-4.73;-4.73	5.17	5.17	0.71159	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97312	0.9121	L	0.46885	1.475	0.80722	D	1	D;P;D	0.62365	0.991;0.921;0.962	P;B;P	0.53313	0.723;0.397;0.602	D	0.97967	1.0341	10	0.72032	D	0.01	.	17.7939	0.88564	0.0:0.0:1.0:0.0	.	644;769;769	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	M	769;769;806;644	ENSP00000349595:V769M;ENSP00000378879:V769M;ENSP00000443101:V644M	ENSP00000349595:V769M	V	+	1	0	ATP2A1	28820889	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.783000	0.99037	2.566000	0.86566	0.561000	0.74099	GTG		0.617	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		11	23	0	0	0	1	0	11	23					A	28913388	G	A	28913388	3	1	435	1	0	0	0	0	1	0	0	0	1136	1145	40	1	2367	1	ATP2A1	16	28913388	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59006	28913388	61441365	6859	27784											
NFATC2IP	84901	broad.mit.edu	37	chr16	28975111	28975111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcttctttgatgggaCaaagctttcaggcagggagc	8	12	11	10	0	3	1	1	1	2	0	4	3	4	3	1	3	2	2	1	3	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:28975111C>T	ENST00000320805.4	+	8	1262	c.1187C>T	c.(1186-1188)aCa>aTa	p.T396I	NFATC2IP_ENST00000564978.1_Missense_Mutation_p.T117I|NFATC2IP_ENST00000568148.1_Missense_Mutation_p.T104I|RP11-264B17.2_ENST00000569974.1_RNA	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	396	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						TTTGATGGGACAAAGCTTTCA	0.572																																						ENST00000320805.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						c.(1186-1188)aCa>aTa		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein							75	71	72					16																	28975111		2197	4300	6497	SO:0001583	missense	84901					cytoplasm|nucleus		g.chr16:28975111C>T	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.1187C>T	16.37:g.28975111C>T	ENSP00000324792:p.Thr396Ile					NFATC2IP_ENST00000564978.1_Missense_Mutation_p.T117I|RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000568148.1_Missense_Mutation_p.T104I	p.T396I	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN			8	1262	+			396			Ubiquitin-like.		B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Missense_Mutation	SNP	ENST00000320805.4	37	c.1187C>T	CCDS10645.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024479	0.75390	.	.	ENSG00000176953	ENST00000320805	T	0.30448	1.53	6.07	5.07	0.68467	Ubiquitin supergroup (1);Small ubiquitin-related modifier, SUMO (1);Ubiquitin (1);	0.545427	0.18732	N	0.132710	T	0.40645	0.1125	L	0.38175	1.15	0.33971	D	0.646814	D;P	0.71674	0.998;0.571	D;B	0.63488	0.915;0.225	T	0.44314	-0.9336	10	0.42905	T	0.14	-6.0009	10.8766	0.46915	0.2294:0.7706:0.0:0.0	.	396;115	Q8NCF5;Q8NCF5-2	NF2IP_HUMAN;.	I	396	ENSP00000324792:T396I	ENSP00000324792:T396I	T	+	2	0	NFATC2IP	28882612	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.339000	0.33885	2.884000	0.98904	0.655000	0.94253	ACA		0.572	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2	NM_032815		14	33	0	0	0	1	0	14	33					T	28975111	C	T	28975111	3	4	435	1	0	0	0	0	1	0	0	0	10363	478	17	3	1217	3	NFATC2IP	16	28975111	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	61723	28975111	61379642	6860	27785											
SPN	6693	broad.mit.edu	37	chr16	29675489	29675489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacctccagtaggaccaGtggagcccctgttaccacgg	11	6	11	13	1	0	1	0	0	0	1	1	3	1	3	6	3	3	2	6	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:29675489G>A	ENST00000360121.3	+	2	532	c.440G>A	c.(439-441)aGt>aAt	p.S147N	SPN_ENST00000395389.2_Missense_Mutation_p.S147N	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						AGTAGGACCAGTGGAGCCCCT	0.542																																						ENST00000360121.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						c.(439-441)aGt>aAt		sialophorin							91	85	87					16																	29675489		2197	4300	6497	SO:0001583	missense	0				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	g.chr16:29675489G>A	J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"CD molecules"	11249	protein-coding gene	gene with protein product	"leukosialin"	182160	"sialophorin (gpL115, leukosialin, CD43)"			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.440G>A	16.37:g.29675489G>A	ENSP00000353238:p.Ser147Asn					SPN_ENST00000395389.2_Missense_Mutation_p.S147N|AC009133.19_ENST00000449759.1_Intron	p.S147N	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN			2	532	+			147					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000360121.3	37	c.440G>A	CCDS10650.1	.	.	.	.	.	.	.	.	.	.	.	10.86	1.471044	0.26423	.	.	ENSG00000197471	ENST00000395389;ENST00000436527;ENST00000360121	T;T;T	0.37235	1.23;1.21;1.23	3.73	1.73	0.24493	.	0.678851	0.13574	N	0.377785	T	0.21674	0.0522	N	0.22421	0.69	0.09310	N	1	B	0.32101	0.356	B	0.35182	0.197	T	0.18808	-1.0325	10	0.23891	T	0.37	0.1355	5.1169	0.14838	0.1158:0.2133:0.6709:0.0	.	147	P16150	LEUK_HUMAN	N	147	ENSP00000378787:S147N;ENSP00000412907:S147N;ENSP00000353238:S147N	ENSP00000353238:S147N	S	+	2	0	SPN	29582990	0.020000	0.18652	0.000000	0.03702	0.001000	0.01503	0.625000	0.24477	0.543000	0.28864	-0.218000	0.12543	AGT		0.542	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2			25	23	0	0	0	1	0	25	23					A	29675489	G	A	29675489	3	1	435	1	0	0	0	0	1	0	0	0	15072	1029	36	3	442	3	SPN	16	29675489	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	700378	29675489	60679264	6861	27786											
MVP	9961	broad.mit.edu	37	chr16	29842219	29842219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtactgtttgcccccatgcGcatggtgaccgtccccccac	5	9	10	17	2	0	1	0	1	0	0	1	1	1	1	6	2	3	3	6	2	1	2	rs560872333		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:29842219G>A	ENST00000357402.5	+	3	284	c.146G>A	c.(145-147)cGc>cAc	p.R49H	MVP_ENST00000452209.2_Intron|MVP_ENST00000395353.1_Missense_Mutation_p.R49H|MVP_ENST00000566554.1_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	49					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			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						GCCCCCATGCGCATGGTGACC	0.577													G|||	1	0.000199681	0	0	5008	,	,		15870	0		0	False		,,,				2504	0.001					ENST00000357402.5																			0				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						c.(145-147)cGc>cAc		major vault protein							102	70	81					16																	29842219		2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29842219G>A	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.146G>A	16.37:g.29842219G>A	ENSP00000349977:p.Arg49His					MVP_ENST00000566554.1_3'UTR|MVP_ENST00000395353.1_Missense_Mutation_p.R49H|MVP_ENST00000452209.2_Intron	p.R49H	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN			3	284	+			49					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.146G>A	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713544	0.48517	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.31769	1.48;1.48	5.61	1.2	0.21068	.	0.203334	0.52532	D	0.000075	T	0.23054	0.0557	L	0.43701	1.375	0.80722	D	1	B	0.15473	0.013	B	0.19391	0.025	T	0.04825	-1.0924	10	0.39692	T	0.17	-1.1888	7.6554	0.28373	0.1477:0.2693:0.583:0.0	.	49	Q14764	MVP_HUMAN	H	49	ENSP00000349977:R49H;ENSP00000378760:R49H	ENSP00000349977:R49H	R	+	2	0	MVP	29749720	0.969000	0.33509	0.550000	0.28217	0.805000	0.45488	1.323000	0.33701	0.012000	0.14892	0.561000	0.74099	CGC		0.577	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		9	17	0	0	0	1	0	9	17					A	29842219	G	A	29842219	3	1	435	1	0	0	0	0	1	0	0	0	9996	1087	38	1	152	1	MVP	16	29842219	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	166730	29842219	60512534	6862	27787											
MVP	9961	broad.mit.edu	37	chr16	29848061	29848061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agacagccctgcacctccggGctcggcggaacttccgggac	7	5	13	16	4	0	1	0	0	0	1	3	3	2	3	4	4	3	2	4	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:29848061G>A	ENST00000357402.5	+	7	829	c.691G>A	c.(691-693)Gct>Act	p.A231T	MVP_ENST00000452209.2_Missense_Mutation_p.G45D|MVP_ENST00000395353.1_Missense_Mutation_p.A231T	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	231					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			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						GCACCTCCGGGCTCGGCGGAA	0.617																																						ENST00000357402.5																			0				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						c.(691-693)Gct>Act		major vault protein							36	40	39					16																	29848061		2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29848061G>A	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.691G>A	16.37:g.29848061G>A	ENSP00000349977:p.Ala231Thr					MVP_ENST00000395353.1_Missense_Mutation_p.A231T|MVP_ENST00000452209.2_Missense_Mutation_p.G45D	p.A231T	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN			7	829	+			231					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.691G>A	CCDS10656.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.12|19.12	3.765650|3.765650	0.69878|0.69878	.|.	.|.	ENSG00000013364|ENSG00000013364	ENST00000357402;ENST00000395353|ENST00000452209	T;T|.	0.49139|.	0.79;0.79|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85894|0.85894	0.5803|0.5803	M|M	0.92784|0.92784	3.345|3.345	0.36552|0.36552	D|D	0.871946|0.871946	D|.	0.76494|.	0.999|.	D|.	0.68353|.	0.957|.	D|D	0.91048|0.91048	0.4876|0.4876	10|6	0.87932|0.87932	D|D	0|0	-8.5873|-8.5873	17.1743|17.1743	0.86837|0.86837	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	231|.	Q14764|.	MVP_HUMAN|.	T|D	231|45	ENSP00000349977:A231T;ENSP00000378760:A231T|.	ENSP00000349977:A231T|ENSP00000387916:G45D	A|G	+|+	1|2	0|0	MVP|MVP	29755562|29755562	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	7.661000|7.661000	0.83786|0.83786	2.717000|2.717000	0.92951|0.92951	0.462000|0.462000	0.41574|0.41574	GCT|GGC		0.617	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		7	14	0	0	0	1	0	7	14					A	29848061	G	A	29848061	3	1	435	1	0	0	0	0	1	0	0	0	9996	1203	42	3	713	3	MVP	16	29848061	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5842	29848061	60506692	6863	27788											
MVP	9961	broad.mit.edu	37	chr16	29853338	29853338	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtccccatgcccgccgtgcGctctgcctgctgctggggcc	1	8	13	19	4	1	0	0	0	1	0	2	0	2	0	6	2	5	3	6	2	0	0	rs578151102		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:29853338G>A	ENST00000357402.5	+	10	1677	c.1539G>A	c.(1537-1539)gcG>gcA	p.A513A	MVP_ENST00000395353.1_Silent_p.A513A	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	513					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			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						CCCGCCGTGCGCTCTGCCTGC	0.622													G|||	1	0.000199681	0	0	5008	,	,		17876	0		0	False		,,,				2504	0.001					ENST00000357402.5																			0				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						c.(1537-1539)gcG>gcA		major vault protein							33	34	34					16																	29853338		2197	4300	6497	SO:0001819	synonymous_variant	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29853338G>A	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1539G>A	16.37:g.29853338G>A						MVP_ENST00000395353.1_Silent_p.A513A	p.A513A	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN			10	1677	+			513					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Silent	SNP	ENST00000357402.5	37	c.1539G>A	CCDS10656.1																																																																																				0.622	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		17	18	0	0	0	1	0	17	18					A	29853338	G	A	29853338	2	1	435	1	0	0	0	0	0	0	0	1	9996	1074	38	1		1	MVP	16	29853338	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5277	29853338	60501415	6864	27789											
TAOK2	9344	broad.mit.edu	37	chr16	29996844	29996844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagaagaaggagctggctgCcctgctggaggcacagaagc	11	4	16	10	0	0	3	0	0	0	3	0	5	0	5	1	4	4	5	1	4	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:29996844C>T	ENST00000308893.4	+	14	2776	c.1733C>T	c.(1732-1734)gCc>gTc	p.A578V	TAOK2_ENST00000416441.2_Missense_Mutation_p.A405V|TAOK2_ENST00000279394.3_Missense_Mutation_p.A578V|TAOK2_ENST00000543033.1_Missense_Mutation_p.A578V	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	578					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GAGCTGGCTGCCCTGCTGGAG	0.637																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1732-1734)gCc>gTc		TAO kinase 2							28	25	26					16																	29996844		2195	4291	6486	SO:0001583	missense	9344				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	g.chr16:29996844C>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1733C>T	16.37:g.29996844C>T	ENSP00000310094:p.Ala578Val					TAOK2_ENST00000543033.1_Missense_Mutation_p.A578V|TAOK2_ENST00000416441.2_Missense_Mutation_p.A405V|TAOK2_ENST00000279394.3_Missense_Mutation_p.A578V	p.A578V	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			14	2776	+			578					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.1733C>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676422	0.47886	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.45668	0.89;0.89;0.89	5.27	4.32	0.51571	.	0.387360	0.28958	N	0.013597	T	0.37705	0.1013	N	0.17474	0.49	0.09310	N	1	P;D;B;B;P	0.69078	0.956;0.997;0.031;0.018;0.893	B;P;B;B;P	0.59221	0.444;0.854;0.079;0.02;0.694	T	0.10870	-1.0611	9	.	.	.	.	6.63	0.22851	0.2824:0.6317:0.0:0.0859	.	769;405;578;578;578	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	V	578	ENSP00000310094:A578V;ENSP00000440336:A578V;ENSP00000279394:A578V	.	A	+	2	0	TAOK2	29904345	0.005000	0.15991	0.049000	0.19019	0.283000	0.27025	1.391000	0.34475	1.227000	0.43598	0.563000	0.77884	GCC		0.637	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		10	14	0	0	0	1	0	10	14					T	29996844	C	T	29996844	3	4	435	1	0	0	0	0	1	0	0	0	15545	739	26	3	1783	3	TAOK2	16	29996844	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	143506	29996844	60357909	6865	27790											
FAM57B	83723	broad.mit.edu	37	chr16	30037072	30037072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatcttgccaaggcagAcgaagggcgtgctgacctct	9	8	14	10	2	2	3	0	2	2	1	2	5	2	4	2	3	2	2	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30037072A>G	ENST00000380495.4	-	4	1246	c.515T>C	c.(514-516)gTc>gCc	p.V172A	FAM57B_ENST00000564806.1_Missense_Mutation_p.V122A|FAM57B_ENST00000279389.4_Missense_Mutation_p.V122A	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	172	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GCCAAGGCAGACGAAGGGCGT	0.597																																						ENST00000380495.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(514-516)gTc>gCc		family with sequence similarity 57, member B							177	167	170					16																	30037072		2197	4300	6497	SO:0001583	missense	83723					endoplasmic reticulum|integral to membrane		g.chr16:30037072A>G	AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.515T>C	16.37:g.30037072A>G	ENSP00000369863:p.Val172Ala					FAM57B_ENST00000564806.1_Missense_Mutation_p.V122A|FAM57B_ENST00000279389.4_Missense_Mutation_p.V122A	p.V172A	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN			4	1246	-			172			TLC.		Q9H0J1	Missense_Mutation	SNP	ENST00000380495.4	37	c.515T>C	CCDS10667.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.111093|5.111093	0.94339|0.94339	.|.	.|.	ENSG00000149926|ENSG00000149926	ENST00000279389|ENST00000380495	.|D	.|0.87256	.|-2.23	5.04|5.04	5.04|5.04	0.67666|0.67666	.|TRAM/LAG1/CLN8 homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93769|0.93769	0.8008|0.8008	M|M	0.86864|0.86864	2.845|2.845	0.58432|0.58432	D|D	0.999999|0.999999	.|D;P	.|0.89917	.|1.0;0.884	.|D;P	.|0.87578	.|0.998;0.761	D|D	0.94221|0.94221	0.7467|0.7467	5|10	.|0.52906	.|T	.|0.07	-13.9917|-13.9917	13.758|13.758	0.62948|0.62948	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|172;172	.|F1T0F5;Q71RH2	.|.;FA57B_HUMAN	P|A	139|172	.|ENSP00000369863:V172A	.|ENSP00000369863:V172A	S|V	-|-	1|2	0|0	FAM57B|FAM57B	29944573|29944573	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.241000|9.241000	0.95402|0.95402	1.894000|1.894000	0.54839|0.54839	0.379000|0.379000	0.24179|0.24179	TCT|GTC		0.597	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2	NM_031478		50	61	0	0	0	1	0	50	61					G	30037072	A	G	30037072	3	3	435	1	0	0	0	0	1	0	0	0	5589	275	10	4	317	4	FAM57B	16	30037072	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	40228	30037072	60317681	6866	27791											
GDPD3	79153	broad.mit.edu	37	chr16	30116256	30116256	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagggctgtgggataatcCgttatgacgccagtggctcc	7	9	14	11	3	0	1	0	1	0	0	2	2	2	2	3	3	0	4	3	3	2	2	rs199816623		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30116256C>T	ENST00000406256.3	-	10	1271	c.894G>A	c.(892-894)acG>acA	p.T298T	RP11-455F5.4_ENST00000566190.1_RNA|RP11-455F5.3_ENST00000515455.2_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	298	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						TGGGATAATCCGTTATGACGC	0.572																																						ENST00000406256.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						c.(892-894)acG>acA		glycerophosphodiester phosphodiesterase domain containing 3							79	73	75					16																	30116256		2197	4300	6497	SO:0001819	synonymous_variant	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30116256C>T	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.894G>A	16.37:g.30116256C>T							p.T298T	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN			10	1271	-			298			GDPD.		Q9H652	Silent	SNP	ENST00000406256.3	37	c.894G>A	CCDS10671.2																																																																																				0.572	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		6	10	0	0	0	1	0	6	10					T	30116256	C	T	30116256	2	4	435	1	0	0	0	0	0	0	0	1	6325	639	23	2		2	GDPD3	16	30116256	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	79184	30116256	60238497	6867	27792											
MYLPF	1731	broad.mit.edu	37	chr16	30387747	30387747	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaaccccctccaggccGcctcaatgtgaagaatgagg	10	5	9	17	1	1	3	1	2	0	1	2	3	2	3	7	2	1	0	7	2	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30387747G>A	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Missense_Mutation_p.R59H			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CCTCCAGGCCGCCTCAATGTG	0.577																																						ENST00000322861.7																			0				large_intestine(2)|lung(4)	6						c.(175-177)cGc>cAc		myosin light chain, phosphorylatable, fast skeletal muscle							90	95	93					16																	30387747		2197	4300	6497	SO:0001628	intergenic_variant	29895				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr16:30387747G>A	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"Septins"	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30387747G>A							p.R59H	NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	Colorectal(24;0.193)		4	257	+			59			EF-hand 1.		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.176G>A		.	.	.	.	.	.	.	.	.	.	G	24.2	4.500651	0.85176	.	.	ENSG00000180209	ENST00000322861	T	0.74632	-0.86	5.49	4.52	0.55395	EF-hand-like domain (1);	0.164385	0.56097	D	0.000029	T	0.72350	0.3449	L	0.31476	0.935	0.47374	D	0.999409	D	0.55800	0.973	P	0.51266	0.664	T	0.76438	-0.2959	10	0.87932	D	0	.	15.0914	0.72198	0.0:0.143:0.857:0.0	.	59	Q96A32	MLRS_HUMAN	H	59	ENSP00000325239:R59H	ENSP00000325239:R59H	R	+	2	0	MYLPF	30295248	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.029000	0.57253	1.291000	0.44653	0.467000	0.42956	CGC		0.577	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		9	39	0	0	0	1	0	9	39					A	30387747	G	A	30387747	1	1	435	0	1	0	0	0	0	0	0	0	10060	1087	38	1		1	MYLPF	16	30387747	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	271491	30387747	59967006	6868	27793											
ZNF48	197407	broad.mit.edu	37	chr16	30409209	30409209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgaaacaccagcggaCacacactggtgagaagccct	12	5	11	13	1	0	2	0	2	0	1	0	4	0	3	3	3	3	0	3	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30409209C>T	ENST00000320159.2	+	2	1014	c.638C>T	c.(637-639)aCa>aTa	p.T213I	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CACCAGCGGACACACACTGGT	0.602																																						ENST00000320159.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(637-639)aCa>aTa		zinc finger protein 48							41	47	45					16																	30409209		2197	4300	6497	SO:0001583	missense	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409209C>T	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"Zinc fingers, C2H2-type"	13114	protein-coding gene	gene with protein product			"zinc finger protein 553"	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.638C>T	16.37:g.30409209C>T	ENSP00000324056:p.Thr213Ile						p.T213I	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN			2	1014	+			213					Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	ENST00000320159.2	37	c.638C>T	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	C	7.217	0.596522	0.13875	.	.	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.19532	2.14	5.15	4.18	0.49190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41194	D	0.000925	T	0.09335	0.0230	N	0.02111	-0.68	0.29897	N	0.824754	B	0.20671	0.047	B	0.40534	0.332	T	0.44174	-0.9345	10	0.02654	T	1	-12.3778	8.1462	0.31113	0.0:0.8243:0.0:0.1757	.	213	Q96MX3	ZNF48_HUMAN	I	338;213	ENSP00000324056:T213I	ENSP00000324056:T213I	T	+	2	0	ZNF48	30316710	0.000000	0.05858	0.967000	0.41034	0.971000	0.66376	0.002000	0.13061	2.677000	0.91161	0.563000	0.77884	ACA		0.602	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		14	18	0	0	0	1	0	14	18					T	30409209	C	T	30409209	3	4	435	1	0	0	0	0	1	0	0	0	17931	478	17	3	644	3	ZNF48	16	30409209	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21462	30409209	59945544	6869	27794											
ITGAL	3683	broad.mit.edu	37	chr16	30506132	30506132	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccactgttctatggggaGcagagaggaggccgggtgtt	7	8	17	9	1	1	1	0	0	1	1	1	4	1	3	3	5	1	3	3	5	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30506132G>A	ENST00000356798.6	+	13	1644	c.1464G>A	c.(1462-1464)gaG>gaA	p.E488E	ITGAL_ENST00000358164.5_Silent_p.E405E|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	488					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			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					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TCTATGGGGAGCAGAGAGGAG	0.587																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				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						c.(1462-1464)gaG>gaA		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						97	94	95					16																	30506132		2197	4300	6497	SO:0001819	synonymous_variant	0				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	g.chr16:30506132G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1464G>A	16.37:g.30506132G>A						ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.E405E|ITGAL_ENST00000568012.1_3'UTR	p.E488E	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			13	1644	+			488					O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.1464G>A	CCDS32433.1																																																																																				0.587	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			17	30	0	0	0	1	0	17	30					A	30506132	G	A	30506132	2	1	435	1	0	0	0	0	0	0	0	1	7886	962	34	3		3	ITGAL	16	30506132	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	96923	30506132	59848621	6870	27795											
ZNF768	79724	broad.mit.edu	37	chr16	30536159	30536159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctggccaaagcgcttgccGcactcagggcacttgaaggg	8	7	13	13	2	2	1	1	1	1	0	2	1	2	1	2	3	2	3	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30536159G>A	ENST00000380412.5	-	2	1477	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C	ZNF768_ENST00000562803.1_Silent_p.C403C	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	434					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGCGCTTGCCGCACTCAGGGC	0.672																																						ENST00000380412.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(1300-1302)tgC>tgT		zinc finger protein 768							24	25	25					16																	30536159		2197	4299	6496	SO:0001819	synonymous_variant	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30536159G>A	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1302C>T	16.37:g.30536159G>A						ZNF768_ENST00000562803.1_Silent_p.C403C	p.C434C	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN			2	1477	-			434					Q569L7|Q96CX4	Silent	SNP	ENST00000380412.5	37	c.1302C>T	CCDS10681.2																																																																																				0.672	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		7	9	0	0	0	1	0	7	9					A	30536159	G	A	30536159	2	1	435	1	0	0	0	0	0	0	0	1	18138	1079	38	1		1	ZNF768	16	30536159	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	30027	30536159	59818594	6871	27796											
ZNF768	79724	broad.mit.edu	37	chr16	30537189	30537189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgggggcacaagcccaGggcttcgggactcaaacccc	8	5	14	14	1	1	0	1	0	0	0	2	1	1	1	3	5	2	3	3	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30537189G>T	ENST00000380412.5	-	2	447	c.272C>A	c.(271-273)cCt>cAt	p.P91H	ZNF768_ENST00000562803.1_Missense_Mutation_p.P60H	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	91	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CACAAGCCCAGGGCTTCGGGA	0.567																																						ENST00000380412.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(271-273)cCt>cAt		zinc finger protein 768							36	45	42					16																	30537189		2192	4298	6490	SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30537189G>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.272C>A	16.37:g.30537189G>T	ENSP00000369777:p.Pro91His					ZNF768_ENST00000562803.1_Missense_Mutation_p.P60H	p.P91H	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN			2	447	-			91			Pro-rich.		Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	c.272C>A	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717044	0.48622	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.12984	2.63	4.23	4.23	0.50019	.	0.000000	0.46758	D	0.000266	T	0.09512	0.0234	N	0.19112	0.55	0.31616	N	0.650885	B	0.26195	0.144	B	0.23419	0.046	T	0.06881	-1.0802	10	0.23891	T	0.37	-6.4807	14.5687	0.68197	0.0:0.0:1.0:0.0	.	91	Q9H5H4	ZN768_HUMAN	H	91;60	ENSP00000369777:P91H	ENSP00000369777:P91H	P	-	2	0	ZNF768	30444690	0.157000	0.22836	1.000000	0.80357	0.954000	0.61252	0.717000	0.25851	2.648000	0.89879	0.561000	0.74099	CCT		0.567	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		24	40	1	0	4.72057e-08	1	4.96844e-08	24	40					T	30537189	G	T	30537189	3	4	435	1	0	0	0	0	1	0	0	0	18138	1000	35	5	1354	5	ZNF768	16	30537189	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1030	30537189	59817564	6872	27797											
ZNF688	146542	broad.mit.edu	37	chr16	30581460	30581460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgctcccccgagtgcatgCgcctgtggctgaccagcagt	5	7	13	16	3	0	1	0	1	0	0	1	2	1	1	5	1	3	4	5	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30581460C>T	ENST00000223459.6	-	3	1712	c.608G>A	c.(607-609)cGc>cAc	p.R203H	AC002310.7_ENST00000492040.1_RNA|ZNF688_ENST00000395219.1_Missense_Mutation_p.R189H|AC002310.7_ENST00000486926.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CGAGTGCATGCGCCTGTGGCT	0.677																																						ENST00000223459.6																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						c.(607-609)cGc>cAc		zinc finger protein 688							16	20	19					16																	30581460		2189	4285	6474	SO:0001583	missense	146542				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30581460C>T	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"Zinc fingers, C2H2-type", "-"	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.608G>A	16.37:g.30581460C>T	ENSP00000223459:p.Arg203His					ZNF688_ENST00000395219.1_Missense_Mutation_p.R189H	p.R203H	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN			3	1712	-			203					A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000223459.6	37	c.608G>A	CCDS10684.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046458	0.75846	.	.	ENSG00000229809	ENST00000395219;ENST00000223459	T;T	0.25749	1.78;1.78	4.42	4.42	0.53409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50633	0.1627	M	0.78049	2.395	0.31717	N	0.63882	D;D	0.89917	0.999;1.0	D;D	0.79108	0.99;0.992	T	0.57820	-0.7745	9	0.54805	T	0.06	.	12.694	0.56992	0.0:1.0:0.0:0.0	.	203;189	P0C7X2;A8MV39	ZN688_HUMAN;.	H	189;203	ENSP00000378645:R189H;ENSP00000223459:R203H	ENSP00000223459:R203H	R	-	2	0	ZNF688	30488961	0.754000	0.28360	1.000000	0.80357	0.850000	0.48378	1.159000	0.31749	2.439000	0.82584	0.467000	0.42956	CGC		0.677	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	NM_145271		16	14	0	0	0	1	0	16	14					T	30581460	C	T	30581460	3	4	435	1	0	0	0	0	1	0	0	0	18090	768	27	1	226	1	ZNF688	16	30581460	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44271	30581460	59773293	6873	27798											
ZNF785	146540	broad.mit.edu	37	chr16	30594700	30594700	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttgacagccacttcatgCgccacctctttttgttttgg	5	16	7	13	1	2	1	1	1	1	0	3	1	3	1	4	1	2	1	4	1	0	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30594700C>T	ENST00000395216.2	-	3	558	c.399G>A	c.(397-399)gcG>gcA	p.A133A	RP11-146F11.5_ENST00000563540.1_RNA|AC002310.7_ENST00000492040.1_RNA|ZNF785_ENST00000470110.1_Silent_p.A118A|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CCACTTCATGCGCCACCTCTT	0.522																																						ENST00000395216.2																			0				endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(397-399)gcG>gcA		zinc finger protein 785							87	95	92					16																	30594700		2197	4300	6497	SO:0001819	synonymous_variant	146540				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30594700C>T	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"Zinc fingers, C2H2-type", "-"	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.399G>A	16.37:g.30594700C>T						AC002310.7_ENST00000492040.1_RNA|ZNF785_ENST00000470110.1_Silent_p.A118A	p.A133A	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN			3	558	-			133					O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000395216.2	37	c.399G>A	CCDS10685.1																																																																																				0.522	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		27	39	0	0	0	1	0	27	39					T	30594700	C	T	30594700	2	4	435	1	0	0	0	0	0	0	0	1	18154	755	27	1		1	ZNF785	16	30594700	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13240	30594700	59760053	6874	27799											
SRCAP	10847	broad.mit.edu	37	chr16	30724641	30724641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatctcattctggatgaggCgcagaacatcaagaacttca	13	10	8	10	1	4	3	3	1	2	2	5	4	4	4	0	2	2	1	0	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30724641C>T	ENST00000262518.4	+	15	2628	c.2243C>T	c.(2242-2244)gCg>gTg	p.A748V	SRCAP_ENST00000344771.4_Missense_Mutation_p.A748V|SRCAP_ENST00000395059.2_Missense_Mutation_p.A748V|SNORA30_ENST00000384028.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	748	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			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)			CTGGATGAGGCGCAGAACATC	0.522																																						ENST00000262518.4																			0				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						c.(2242-2244)gCg>gTg		Snf2-related CREBBP activator protein							125	111	116					16																	30724641		2197	4300	6497	SO:0001583	missense	10847				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	g.chr16:30724641C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2243C>T	16.37:g.30724641C>T	ENSP00000262518:p.Ala748Val					SRCAP_ENST00000344771.4_Missense_Mutation_p.A748V|SRCAP_ENST00000395059.2_Missense_Mutation_p.A748V	p.A748V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		15	2628	+			748			Helicase ATP-binding.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.2243C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478665	0.63849	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.95482	-3.72;-3.72;-3.72	5.41	5.41	0.78517	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.56097	D	0.000026	D	0.97801	0.9278	M	0.89658	3.05	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.99;0.992	D;P;P	0.91635	0.999;0.719;0.723	D	0.97713	1.0192	10	0.62326	D	0.03	-14.034	11.5289	0.50597	0.0:0.9178:0.0:0.0822	.	748;748;748	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	V	748	ENSP00000262518:A748V;ENSP00000378499:A748V;ENSP00000343042:A748V	ENSP00000262518:A748V	A	+	2	0	SRCAP	30632142	0.993000	0.37304	1.000000	0.80357	0.986000	0.74619	3.006000	0.49529	2.816000	0.96949	0.563000	0.77884	GCG		0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		20	36	0	0	0	1	0	20	36					T	30724641	C	T	30724641	3	4	435	1	0	0	0	0	1	0	0	0	15134	768	27	1	2293	1	SRCAP	16	30724641	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	129941	30724641	59630112	6875	27800											
SRCAP	10847	broad.mit.edu	37	chr16	30747622	30747622	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatgagaacgatgggttTcctgctggtgagggagagga	10	11	16	4	1	0	3	0	2	0	2	1	7	1	4	1	4	2	2	1	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30747622T>C	ENST00000262518.4	+	32	7216	c.6831T>C	c.(6829-6831)ttT>ttC	p.F2277F	SRCAP_ENST00000344771.4_Silent_p.F2119F|SRCAP_ENST00000395059.2_Silent_p.F2215F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2277	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			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)			ACGATGGGTTTCCTGCTGGTG	0.572																																						ENST00000262518.4																			0				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						c.(6829-6831)ttT>ttC		Snf2-related CREBBP activator protein							87	82	84					16																	30747622		2197	4300	6497	SO:0001819	synonymous_variant	10847				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	g.chr16:30747622T>C	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6831T>C	16.37:g.30747622T>C						SRCAP_ENST00000344771.4_Silent_p.F2119F|SRCAP_ENST00000395059.2_Silent_p.F2215F	p.F2277F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		32	7216	+			2277			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.6831T>C	CCDS10689.2																																																																																				0.572	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		18	25	0	0	0	1	0	18	25					C	30747622	T	C	30747622	2	2	435	1	0	0	0	0	0	0	0	1	15134	1780	62	4		4	SRCAP	16	30747622	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	22981	30747622	59607131	6876	27801											
SRCAP	10847	broad.mit.edu	37	chr16	30748453	30748453	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaggaggaggaggggccGggggctggggatgagagttc	9	4	23	5	1	0	2	0	1	0	2	1	7	0	6	1	9	0	2	1	9	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30748453G>A	ENST00000262518.4	+	34	7477	c.7092G>A	c.(7090-7092)ccG>ccA	p.P2364P	SRCAP_ENST00000344771.4_Silent_p.P2206P|SRCAP_ENST00000395059.2_Silent_p.P2302P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2364					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			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)			AGGAGGGGCCGGGGGCTGGGG	0.637																																						ENST00000262518.4																			0				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						c.(7090-7092)ccG>ccA		Snf2-related CREBBP activator protein							33	36	35					16																	30748453		2197	4300	6497	SO:0001819	synonymous_variant	10847				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	g.chr16:30748453G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7092G>A	16.37:g.30748453G>A						SRCAP_ENST00000344771.4_Silent_p.P2206P|SRCAP_ENST00000395059.2_Silent_p.P2302P	p.P2364P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	7477	+			2364					B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.7092G>A	CCDS10689.2																																																																																				0.637	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		11	19	0	0	0	1	0	11	19					A	30748453	G	A	30748453	2	1	435	1	0	0	0	0	0	0	0	1	15134	1103	39	2		2	SRCAP	16	30748453	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	831	30748453	59606300	6877	27802											
PHKG2	5261	broad.mit.edu	37	chr16	30768239	30768239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcgctgcggtcagtgcggCacctcatcgacaactgtgcc	7	8	12	14	4	2	0	2	0	0	0	3	1	2	0	2	2	5	2	2	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30768239C>T	ENST00000563588.1	+	10	1281	c.1042C>T	c.(1042-1044)Cac>Tac	p.H348Y	PHKG2_ENST00000328273.7_Missense_Mutation_p.H352Y|PHKG2_ENST00000424889.3_Missense_Mutation_p.H348Y	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	348	Calmodulin-binding (domain-C). {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			GTCAGTGCGGCACCTCATCGA	0.627																																						ENST00000563588.1																			0				ovary(1)|skin(1)	2						c.(1042-1044)Cac>Tac		phosphorylase kinase, gamma 2 (testis)							112	100	104					16																	30768239		2197	4300	6497	SO:0001583	missense	5261				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr16:30768239C>T	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.1042C>T	16.37:g.30768239C>T	ENSP00000455607:p.His348Tyr					PHKG2_ENST00000424889.3_Missense_Mutation_p.H348Y|PHKG2_ENST00000328273.7_Missense_Mutation_p.H352Y	p.H348Y	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	Colorectal(24;0.198)		10	1281	+			348			Calmodulin-binding (domain-C) (By similarity).		A8K0C7|B4DEB7|E9PEU3|P11800	Missense_Mutation	SNP	ENST00000563588.1	37	c.1042C>T	CCDS10690.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.803011	0.50315	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T	0.32023	1.47	6.07	5.12	0.69794	Protein kinase-like domain (1);	0.157480	0.31685	N	0.007228	T	0.15869	0.0382	N	0.08118	0	0.09310	N	0.999994	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.13415	-1.0510	10	0.87932	D	0	-2.8149	7.7562	0.28925	0.2549:0.6689:0.0:0.0762	.	348;348	P15735;P15735-2	PHKG2_HUMAN;.	Y	348	ENSP00000388571:H348Y	ENSP00000329968:H348Y	H	+	1	0	PHKG2	30675740	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.447000	0.60020	1.584000	0.49913	0.655000	0.94253	CAC		0.627	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294		34	58	0	0	0	1	0	34	58					T	30768239	C	T	30768239	3	4	435	1	0	0	0	0	1	0	0	0	11847	710	25	3	1076	3	PHKG2	16	30768239	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19786	30768239	59586514	6878	27803											
ZNF629	23361	broad.mit.edu	37	chr16	30794560	30794560	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggtgagtccgctggtgCttgatgagggtggagctgtg	5	10	19	7	2	0	3	0	3	0	0	1	4	1	4	1	4	2	4	1	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30794560C>T	ENST00000262525.4	-	3	1296	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TCCGCTGGTGCTTGATGAGGG	0.657																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(1087-1089)aaG>aaA		zinc finger protein 629							35	36	36					16																	30794560		2197	4300	6497	SO:0001819	synonymous_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794560C>T	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.1089G>A	16.37:g.30794560C>T							p.K363K	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	1296	-			363					Q15938	Silent	SNP	ENST00000262525.4	37	c.1089G>A	CCDS45463.1																																																																																				0.657	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		9	17	0	0	0	1	0	9	17					T	30794560	C	T	30794560	2	4	435	1	0	0	0	0	0	0	0	1	18050	796	28	3		3	ZNF629	16	30794560	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26321	30794560	59560193	6879	27804											
FBXL19	54620	broad.mit.edu	37	chr16	30958065	30958065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagggcaaacagagagcCgtggtcggctgcagggggtg	8	4	19	10	2	0	1	0	0	0	1	1	2	0	1	2	5	3	3	2	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30958065C>T	ENST00000380310.2	+	10	1860	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C	ORAI3_ENST00000562699.1_5'Flank|FBXL19_ENST00000338343.4_Missense_Mutation_p.R548C|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000318663.4_5'Flank|FBXL19_ENST00000471231.2_Missense_Mutation_p.R256C|FBXL19_ENST00000565690.1_Missense_Mutation_p.R432C|ORAI3_ENST00000566237.1_5'Flank|FBXL19_ENST00000562319.1_Missense_Mutation_p.R548C	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	568					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AACAGAGAGCCGTGGTCGGCT	0.652																																						ENST00000338343.4																			0				breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(1642-1644)Cgt>Tgt		F-box and leucine-rich repeat protein 19							24	31	28					16																	30958065		2067	4207	6274	SO:0001583	missense	54620						DNA binding|zinc ion binding	g.chr16:30958065C>T	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"F-boxes / Leucine-rich repeats"	25300	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1C"	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.1702C>T	16.37:g.30958065C>T	ENSP00000369666:p.Arg568Cys					FBXL19_ENST00000380310.2_Missense_Mutation_p.R568C|FBXL19_ENST00000562319.1_Missense_Mutation_p.R548C|FBXL19_ENST00000471231.2_Missense_Mutation_p.R256C|FBXL19_ENST00000565690.1_Missense_Mutation_p.R432C	p.R548C			Q6PCT2	FXL19_HUMAN			10	2029	+			568					A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	c.1642C>T	CCDS45465.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.56|18.56	3.650389|3.650389	0.67472|0.67472	.|.	.|.	ENSG00000099364|ENSG00000099364	ENST00000427128|ENST00000338343;ENST00000380310	.|T;T	.|0.36699	.|1.24;1.24	4.76|4.76	3.71|3.71	0.42584|0.42584	.|.	.|0.442202	.|0.19374	.|N	.|0.115825	T|T	0.61286|0.61286	0.2335|0.2335	M|M	0.84683|0.84683	2.71|2.71	0.50467|0.50467	D|D	0.99987|0.99987	.|D;D	.|0.89917	.|1.0;1.0	.|D;P	.|0.74023	.|0.982;0.858	T|T	0.62618|0.62618	-0.6816|-0.6816	5|10	.|0.28530	.|T	.|0.3	-4.7225|-4.7225	14.6055|14.6055	0.68475|0.68475	0.156:0.844:0.0:0.0|0.156:0.844:0.0:0.0	.|.	.|568;525	.|Q6PCT2;Q6PCT2-2	.|FXL19_HUMAN;.	L|C	459|548;568	.|ENSP00000339712:R548C;ENSP00000369666:R568C	.|ENSP00000339712:R548C	P|R	+|+	2|1	0|0	FBXL19|FBXL19	30865566|30865566	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.760000|2.760000	0.47581|0.47581	2.203000|2.203000	0.70933|0.70933	0.561000|0.561000	0.74099|0.74099	CCG|CGT		0.652	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		4	10	0	0	0	1	0	4	10					T	30958065	C	T	30958065	3	4	435	1	0	0	0	0	1	0	0	0	5715	652	23	2	1740	2	FBXL19	16	30958065	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	163505	30958065	59396688	6880	27805											
ORAI3	93129	broad.mit.edu	37	chr16	30964860	30964860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacatcccgggtgcccGggactctggcaccagtggct	5	7	13	16	2	1	0	0	0	1	0	2	1	2	1	4	4	2	2	4	4	0	0	rs553613759		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30964860G>A	ENST00000318663.4	+	2	807	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	ORAI3_ENST00000562699.1_Intron|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_Missense_Mutation_p.G195R	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	195					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CCGGGTGCCCGGGACTCTGGC	0.627											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318663.4																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(583-585)Ggg>Agg		ORAI calcium release-activated calcium modulator 3							150	178	168					16																	30964860		2197	4300	6497	SO:0001583	missense	93129					integral to membrane	protein binding	g.chr16:30964860G>A	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"ORAI calcium release-activated calcium modulators"	28185	protein-coding gene	gene with protein product		610930	"transmembrane protein 142C"	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.583G>A	16.37:g.30964860G>A	ENSP00000322249:p.Gly195Arg		OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	ORAI3_ENST00000562699.1_Intron|ORAI3_ENST00000566237.1_Missense_Mutation_p.G195R|AC135048.13_ENST00000566056.1_RNA	p.G195R	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN			2	807	+			195					Q96BI8	Missense_Mutation	SNP	ENST00000318663.4	37	c.583G>A	CCDS10697.1	.	.	.	.	.	.	.	.	.	.	G	8.263	0.811536	0.16537	.	.	ENSG00000175938	ENST00000318663;ENST00000420438	T	0.29917	1.55	4.81	3.84	0.44239	.	0.316676	0.22658	N	0.057223	T	0.10895	0.0266	N	0.02011	-0.69	0.19945	N	0.999949	B	0.13145	0.007	B	0.11329	0.006	T	0.15235	-1.0444	10	0.29301	T	0.29	-10.4495	7.2779	0.26294	0.0961:0.1697:0.7342:0.0	.	195	Q9BRQ5	ORAI3_HUMAN	R	195	ENSP00000322249:G195R	ENSP00000322249:G195R	G	+	1	0	ORAI3	30872361	0.946000	0.32159	0.998000	0.56505	0.330000	0.28571	3.181000	0.50903	2.227000	0.72691	0.650000	0.86243	GGG		0.627	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	NM_152288		99	143	0	0	0	1	0	99	143					A	30964860	G	A	30964860	3	1	435	1	0	0	0	0	1	0	0	0	11259	1116	39	2	589	2	ORAI3	16	30964860	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6795	30964860	59389893	6881	27806											
SETD1A	9739	broad.mit.edu	37	chr16	30992103	30992103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgccggtccgagcagcggcGgctgctgagcgccatcggta	5	5	17	14	7	0	1	0	1	0	0	2	2	1	1	3	4	4	4	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30992103G>T	ENST00000262519.8	+	16	5311	c.4625G>T	c.(4624-4626)cGg>cTg	p.R1542L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1542					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			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						GAGCAGCGGCGGCTGCTGAGC	0.672																																						ENST00000262519.8																			0				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						c.(4624-4626)cGg>cTg		SET domain containing 1A							33	36	35					16																	30992103		2195	4295	6490	SO:0001583	missense	9739				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	g.chr16:30992103G>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.4625G>T	16.37:g.30992103G>T	ENSP00000262519:p.Arg1542Leu						p.R1542L	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			16	5311	+			1542					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.4625G>T	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696194	0.48202	.	.	ENSG00000099381	ENST00000262519	D	0.95788	-3.81	5.21	5.21	0.72293	COMPASS complex Set1 subunit, N-SET domain (1);	0.000000	0.85682	D	0.000000	D	0.97695	0.9244	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98429	1.0581	10	0.72032	D	0.01	.	17.5065	0.87747	0.0:0.0:1.0:0.0	.	1542	O15047	SET1A_HUMAN	L	1542	ENSP00000262519:R1542L	ENSP00000262519:R1542L	R	+	2	0	SETD1A	30899604	1.000000	0.71417	0.998000	0.56505	0.328000	0.28507	9.751000	0.98889	2.417000	0.82017	0.544000	0.68410	CGG		0.672	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		16	23	1	0	8.00594e-06	1	8.29589e-06	16	23					T	30992103	G	T	30992103	3	4	435	1	0	0	0	0	1	0	0	0	14130	1116	39	5	4683	5	SETD1A	16	30992103	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27243	30992103	59362650	6882	27807											
ZNF668	79759	broad.mit.edu	37	chr16	31072558	31072558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcactgagctgtgagtgCggctgtgtttgcgcagccca	5	9	16	11	3	0	2	0	2	0	0	0	2	0	2	1	2	4	5	1	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31072558C>T	ENST00000538906.1	-	3	2475	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H	ZNF668_ENST00000539836.3_Missense_Mutation_p.R587H|ZNF668_ENST00000300849.4_Missense_Mutation_p.R564H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R564H|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000426488.2_Missense_Mutation_p.R587H|ZNF668_ENST00000394983.2_Missense_Mutation_p.R564H	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	564					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCTGTGAGTGCGGCTGTGTTT	0.667																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1690-1692)cGc>cAc		zinc finger protein 668							58	55	56					16																	31072558		2197	4300	6497	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072558C>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1691G>A	16.37:g.31072558C>T	ENSP00000440149:p.Arg564His					ZNF668_ENST00000539836.3_Missense_Mutation_p.R587H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R564H|ZNF668_ENST00000394983.2_Missense_Mutation_p.R564H|ZNF668_ENST00000300849.4_Missense_Mutation_p.R564H|ZNF668_ENST00000426488.2_Missense_Mutation_p.R587H	p.R564H	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			3	2475	-			564					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.1691G>A	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.860853	0.71834	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	4.79	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.131819	0.47455	D	0.000224	T	0.52158	0.1717	M	0.78049	2.395	0.42855	D	0.994091	D	0.89917	1.0	D	0.68353	0.957	T	0.58736	-0.7584	10	0.87932	D	0	-39.4971	16.7615	0.85513	0.0:1.0:0.0:0.0	.	564	Q96K58	ZN668_HUMAN	H	587;564;564;564;564	ENSP00000442573:R587H;ENSP00000441349:R564H;ENSP00000440149:R564H;ENSP00000378434:R564H;ENSP00000300849:R564H	ENSP00000300849:R564H	R	-	2	0	ZNF668	30980059	0.447000	0.25673	1.000000	0.80357	0.932000	0.56968	0.773000	0.26661	2.500000	0.84329	0.561000	0.74099	CGC		0.667	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		9	48	0	0	0	1	0	9	48					T	31072558	C	T	31072558	3	4	435	1	0	0	0	0	1	0	0	0	18072	768	27	1	172	1	ZNF668	16	31072558	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	80455	31072558	59282195	6883	27808											
ZNF668	79759	broad.mit.edu	37	chr16	31073037	31073037	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgcttcctcaggctcgaCgacaccacaaaggatttccc	9	9	8	15	3	1	0	1	0	0	0	5	3	3	1	3	2	1	2	3	2	1	2	rs201025557		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31073037C>T	ENST00000538906.1	-	3	1996	c.1212G>A	c.(1210-1212)tcG>tcA	p.S404S	ZNF668_ENST00000539836.3_Silent_p.S427S|ZNF668_ENST00000300849.4_Silent_p.S404S|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000535577.1_Silent_p.S404S|ZNF668_ENST00000417110.2_Silent_p.D75D|ZNF668_ENST00000426488.2_Silent_p.S427S|ZNF668_ENST00000394983.2_Silent_p.S404S	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	404					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCAGGCTCGACGACACCACAA	0.667																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1210-1212)tcG>tcA		zinc finger protein 668							99	103	102					16																	31073037		2197	4300	6497	SO:0001819	synonymous_variant	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31073037C>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1212G>A	16.37:g.31073037C>T						ZNF668_ENST00000539836.3_Silent_p.S427S|ZNF668_ENST00000535577.1_Silent_p.S404S|ZNF668_ENST00000417110.2_Silent_p.D75D|ZNF668_ENST00000394983.2_Silent_p.S404S|ZNF668_ENST00000300849.4_Silent_p.S404S|ZNF668_ENST00000426488.2_Silent_p.S427S	p.S404S	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			3	1996	-			404					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	ENST00000538906.1	37	c.1212G>A	CCDS10701.1																																																																																				0.667	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		5	108	0	0	0	1	0	5	108					T	31073037	C	T	31073037	2	4	435	1	0	0	0	0	0	0	0	1	18072	523	19	1		1	ZNF668	16	31073037	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	479	31073037	59281716	6884	27809											
ZNF668	79759	broad.mit.edu	37	chr16	31075680	31075680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcgcgctgccctgggcGcgtttggaaatgtcttggta	4	11	16	10	5	1	0	0	0	1	0	1	1	1	1	1	4	1	3	1	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31075680G>A	ENST00000538906.1	-	2	885	c.101C>T	c.(100-102)gCg>gTg	p.A34V	ZNF668_ENST00000539836.3_Missense_Mutation_p.A57V|ZNF668_ENST00000300849.4_Missense_Mutation_p.A34V|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000535577.1_Missense_Mutation_p.A34V|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000426488.2_Missense_Mutation_p.A57V|ZNF668_ENST00000394983.2_Missense_Mutation_p.A34V	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	34					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGCCCTGGGCGCGTTTGGAAA	0.647																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(100-102)gCg>gTg		zinc finger protein 668							54	58	57					16																	31075680		2197	4298	6495	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31075680G>A		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.101C>T	16.37:g.31075680G>A	ENSP00000440149:p.Ala34Val					ZNF668_ENST00000539836.3_Missense_Mutation_p.A57V|ZNF668_ENST00000535577.1_Missense_Mutation_p.A34V|ZNF668_ENST00000394983.2_Missense_Mutation_p.A34V|ZNF668_ENST00000300849.4_Missense_Mutation_p.A34V|ZNF668_ENST00000426488.2_Missense_Mutation_p.A57V	p.A34V	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			2	885	-			34					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.101C>T	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191125	0.58017	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849;ENST00000414399;ENST00000442862;ENST00000417935;ENST00000426488	T;T;T;T;T;T;T;T	0.48522	2.45;2.45;2.45;2.45;2.45;0.81;3.08;1.63	5.19	4.23	0.50019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.273428	0.29900	N	0.010904	T	0.27349	0.0671	N	0.19112	0.55	0.18873	N	0.999982	P	0.44006	0.824	B	0.38296	0.27	T	0.13548	-1.0505	10	0.46703	T	0.11	-22.2726	4.8188	0.13379	0.172:0.0:0.6559:0.172	.	34	Q96K58	ZN668_HUMAN	V	57;34;34;34;34;34;34;34;34	ENSP00000442573:A57V;ENSP00000441349:A34V;ENSP00000440149:A34V;ENSP00000378434:A34V;ENSP00000300849:A34V;ENSP00000412340:A34V;ENSP00000416853:A34V;ENSP00000390671:A34V	ENSP00000300849:A34V	A	-	2	0	ZNF668	30983181	0.118000	0.22208	0.949000	0.38748	0.922000	0.55478	2.721000	0.47260	1.424000	0.47217	-0.258000	0.10820	GCG		0.647	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		14	69	0	0	0	1	0	14	69					A	31075680	G	A	31075680	3	1	435	1	0	0	0	0	1	0	0	0	18072	1087	38	1	1766	1	ZNF668	16	31075680	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2643	31075680	59279073	6885	27810											
ZNF646	9726	broad.mit.edu	37	chr16	31092695	31092695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgctgcacccagtgcgggCgctcctaccgccatgctggc	4	7	12	18	4	0	0	0	0	0	0	2	0	2	0	5	2	4	4	5	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31092695C>T	ENST00000394979.2	+	1	5473	c.5050C>T	c.(5050-5052)Cgc>Tgc	p.R1684C	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1684C			O15015	ZN646_HUMAN	zinc finger protein 646	1684					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCAGTGCGGGCGCTCCTACCG	0.647																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(5050-5052)Cgc>Tgc		zinc finger protein 646							71	82	78					16																	31092695		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31092695C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.5050C>T	16.37:g.31092695C>T	ENSP00000378429:p.Arg1684Cys					ZNF646_ENST00000300850.5_Missense_Mutation_p.R1684C	p.R1684C			O15015	ZN646_HUMAN			1	5473	+			1684					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.5050C>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.060168	0.76074	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.55760	0.5;0.5	5.8	5.8	0.92144	.	.	.	.	.	T	0.68284	0.2984	L	0.59912	1.85	0.51233	D	0.999918	D	0.89917	1.0	D	0.77004	0.989	T	0.69818	-0.5042	9	0.87932	D	0	-12.5219	13.7609	0.62966	0.1538:0.8461:0.0:0.0	.	1684	O15015-2	.	C	1684	ENSP00000300850:R1684C;ENSP00000378429:R1684C	ENSP00000300850:R1684C	R	+	1	0	ZNF646	31000196	0.935000	0.31712	1.000000	0.80357	0.994000	0.84299	0.619000	0.24388	2.755000	0.94549	0.655000	0.94253	CGC		0.647	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		26	29	0	0	0	1	0	26	29					T	31092695	C	T	31092695	3	4	435	1	0	0	0	0	1	0	0	0	18059	768	27	1	5052	1	ZNF646	16	31092695	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17015	31092695	59262058	6886	27811											
BCKDK	10295	broad.mit.edu	37	chr16	31122645	31122645	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatggagagtcacctagaCactccctacaatgtcccaga	14	7	7	13	0	1	3	1	0	0	3	3	4	3	3	3	1	1	0	3	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31122645C>T	ENST00000394951.1	+	11	1493	c.870C>T	c.(868-870)gaC>gaT	p.D290D	BCKDK_ENST00000394950.3_Silent_p.D290D|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000219794.6_Silent_p.D290D|BCKDK_ENST00000287507.3_Intron			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	290	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						GTCACCTAGACACTCCCTACA	0.547																																						ENST00000394951.1																			0				breast(1)|stomach(1)	2						c.(868-870)gaC>gaT		branched chain ketoacid dehydrogenase kinase							166	131	143					16																	31122645		2197	4300	6497	SO:0001819	synonymous_variant	10295				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	g.chr16:31122645C>T	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.870C>T	16.37:g.31122645C>T						BCKDK_ENST00000394950.3_Silent_p.D290D|BCKDK_ENST00000287507.3_Intron|BCKDK_ENST00000219794.6_Silent_p.D290D	p.D290D			O14874	BCKD_HUMAN			11	1493	+			290			Histidine kinase.		A8MY43|Q6FGL4|Q96G95|Q96IN5	Silent	SNP	ENST00000394951.1	37	c.870C>T	CCDS10705.1																																																																																				0.547	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		16	21	0	0	0	1	0	16	21					T	31122645	C	T	31122645	2	4	435	1	0	0	0	0	0	0	0	1	1361	477	17	3		3	BCKDK	16	31122645	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29950	31122645	59232108	6887	27812											
BCKDK	10295	broad.mit.edu	37	chr16	31123313	31123313	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctctttggccatctggaCatgcatagtggcgcccagtc	6	10	10	15	1	2	0	0	0	2	0	3	1	2	1	4	3	1	1	4	3	1	2	rs534671893		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31123313C>T	ENST00000394951.1	+	12	1682	c.1059C>T	c.(1057-1059)gaC>gaT	p.D353D	BCKDK_ENST00000394950.3_Silent_p.D353D|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000219794.6_Silent_p.D353D|BCKDK_ENST00000287507.3_Silent_p.D323D			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	353	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						GCCATCTGGACATGCATAGTG	0.622													C|||	1	0.000199681	0	0	5008	,	,		17252	0		0	False		,,,				2504	0.001					ENST00000394951.1																			0				breast(1)|stomach(1)	2						c.(1057-1059)gaC>gaT		branched chain ketoacid dehydrogenase kinase							51	48	49					16																	31123313		2197	4300	6497	SO:0001819	synonymous_variant	10295				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	g.chr16:31123313C>T	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.1059C>T	16.37:g.31123313C>T						BCKDK_ENST00000394950.3_Silent_p.D353D|BCKDK_ENST00000287507.3_Silent_p.D323D|BCKDK_ENST00000219794.6_Silent_p.D353D	p.D353D			O14874	BCKD_HUMAN			12	1682	+			353			Histidine kinase.		A8MY43|Q6FGL4|Q96G95|Q96IN5	Silent	SNP	ENST00000394951.1	37	c.1059C>T	CCDS10705.1																																																																																				0.622	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		5	27	0	0	0	1	0	5	27					T	31123313	C	T	31123313	2	4	435	1	0	0	0	0	0	0	0	1	1361	477	17	3		3	BCKDK	16	31123313	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	668	31123313	59231440	6888	27813											
PRSS36	146547	broad.mit.edu	37	chr16	31157220	31157220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagagacattgacaggtggCctcgcccagcagccttagct	9	8	12	12	1	0	2	0	1	0	1	1	3	0	2	3	2	3	3	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31157220C>T	ENST00000268281.4	-	6	668	c.610G>A	c.(610-612)Gcc>Acc	p.A204T	PRSS36_ENST00000418068.2_Missense_Mutation_p.A204T|PRSS36_ENST00000569305.1_Missense_Mutation_p.A204T	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	204	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGACAGGTGGCCTCGCCCAGC	0.612																																						ENST00000268281.4																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(610-612)Gcc>Acc		protease, serine, 36							53	49	50					16																	31157220		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31157220C>T	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.610G>A	16.37:g.31157220C>T	ENSP00000268281:p.Ala204Thr					PRSS36_ENST00000569305.1_Missense_Mutation_p.A204T|PRSS36_ENST00000418068.2_Missense_Mutation_p.A204T	p.A204T	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN			6	668	-			204			Peptidase S1 1.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.610G>A	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	C	3.804	-0.041131	0.07452	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.89196	-2.48;-2.48	5.45	1.01	0.19927	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.71358	0.3330	N	0.04132	-0.27	0.09310	N	1	B;B;B	0.16166	0.001;0.016;0.016	B;B;B	0.20184	0.005;0.028;0.026	T	0.57820	-0.7745	9	0.14252	T	0.57	.	5.1048	0.14777	0.1411:0.6194:0.0:0.2394	.	204;204;204	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	T	204	ENSP00000268281:A204T;ENSP00000407160:A204T	ENSP00000268281:A204T	A	-	1	0	PRSS36	31064721	0.000000	0.05858	0.006000	0.13384	0.132000	0.20833	-0.354000	0.07681	0.260000	0.21731	0.491000	0.48974	GCC		0.612	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		7	14	0	0	0	1	0	7	14					T	31157220	C	T	31157220	3	4	435	1	0	0	0	0	1	0	0	0	12625	739	26	3	1997	3	PRSS36	16	31157220	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33907	31157220	59197533	6889	27814											
PYDC1	260434	broad.mit.edu	37	chr16	31228335	31228335	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccttcaggatggcctcGcgcttcgttcccatggctca	6	10	10	15	3	2	0	2	0	0	0	5	1	3	1	3	3	1	4	3	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31228335G>A	ENST00000302964.3	-	1	345	c.15C>T	c.(13-15)cgC>cgT	p.R5R	TRIM72_ENST00000322122.3_Intron|PYDC1_ENST00000568383.1_5'Flank	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	5	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GGATGGCCTCGCGCTTCGTTC	0.652																																						ENST00000302964.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(13-15)cgC>cgT		PYD (pyrin domain) containing 1							49	42	44					16																	31228335		2197	4300	6497	SO:0001819	synonymous_variant	260434				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	g.chr16:31228335G>A		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"pyrin domain containing 1"			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407	ENST00000302964.3:c.15C>T	16.37:g.31228335G>A						TRIM72_ENST00000322122.3_Intron	p.R5R	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN			1	345	-			5			DAPIN.		B2R8L4|Q8NFP8	Silent	SNP	ENST00000302964.3	37	c.15C>T	CCDS10710.1																																																																																				0.652	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		6	10	0	0	0	1	0	6	10					A	31228335	G	A	31228335	2	1	435	1	0	0	0	0	0	0	0	1	12858	1074	38	1		1	PYDC1	16	31228335	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	71115	31228335	59126418	6890	27815											
ITGAX	3687	broad.mit.edu	37	chr16	31372436	31372436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagaattaaatgacattgCatcgaagccctcccaggaac	16	7	8	10	1	0	2	0	1	0	1	2	5	1	3	2	1	3	1	2	1	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31372436C>T	ENST00000268296.4	+	9	1035	c.914C>T	c.(913-915)gCa>gTa	p.A305V	ITGAX_ENST00000562522.1_Missense_Mutation_p.A305V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	305	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AATGACATTGCATCGAAGCCC	0.368																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(913-915)gCa>gTa		integrin, alpha X (complement component 3 receptor 4 subunit)							117	126	123					16																	31372436		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31372436C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.914C>T	16.37:g.31372436C>T	ENSP00000268296:p.Ala305Val					ITGAX_ENST00000562522.1_Missense_Mutation_p.A305V	p.A305V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			9	1035	+			305			VWFA.		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.914C>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	36	5.793664	0.96952	.	.	ENSG00000140678	ENST00000268296	D	0.88431	-2.38	5.07	4.11	0.48088	von Willebrand factor, type A (3);	.	.	.	.	D	0.95379	0.8500	H	0.94582	3.555	0.36064	D	0.841686	D	0.76494	0.999	D	0.65573	0.936	D	0.98576	1.0648	9	0.87932	D	0	.	13.0752	0.59083	0.0:0.838:0.162:0.0	.	305	P20702	ITAX_HUMAN	V	305	ENSP00000268296:A305V	ENSP00000268296:A305V	A	+	2	0	ITGAX	31279937	1.000000	0.71417	0.787000	0.31911	0.982000	0.71751	3.135000	0.50546	1.256000	0.44068	0.585000	0.79938	GCA		0.368	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		41	82	0	0	0	1	0	41	82					T	31372436	C	T	31372436	3	4	435	1	0	0	0	0	1	0	0	0	7889	710	25	3	948	3	ITGAX	16	31372436	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	144101	31372436	58982317	6891	27816											
ITGAD	3681	broad.mit.edu	37	chr16	31422650	31422650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcagtggcagtgtgacGctgttctccgtggtgagcag	5	10	18	8	2	1	2	0	2	1	0	2	2	1	2	1	3	2	5	1	3	0	1	rs200809631		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31422650G>A	ENST00000389202.2	+	14	1568	c.1519G>A	c.(1519-1521)Gct>Act	p.A507T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	507					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCAGTGTGACGCTGTTCTCCG	0.622													g|||	1	0.000199681	0	0	5008	,	,		16226	0.001		0	False		,,,				2504	0					ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1519-1521)Gct>Act		integrin, alpha D		G	THR/ALA	0,4394		0,0,2197	118	116	117		1519	-0.5	0	16		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGAD	NM_005353.2	58	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	507/1162	31422650	1,12993	2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422650G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1519G>A	16.37:g.31422650G>A	ENSP00000373854:p.Ala507Thr						p.A507T	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			14	1568	+			507					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.1519G>A	CCDS32438.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.894	-0.724385	0.03158	0.0	1.16E-4	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.70869	-0.52	4.49	-0.507	0.11985	.	.	.	.	.	T	0.48447	0.1500	N	0.25380	0.74	0.09310	N	1	B;B	0.22003	0.063;0.063	B;B	0.12837	0.008;0.008	T	0.23440	-1.0188	9	0.23302	T	0.38	.	2.3241	0.04218	0.1001:0.1641:0.4001:0.3357	.	523;507	Q59H14;Q13349	.;ITAD_HUMAN	T	523;507	ENSP00000373854:A507T	ENSP00000373854:A507T	A	+	1	0	ITGAD	31330151	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.116000	0.10724	-0.029000	0.13827	0.407000	0.27541	GCT		0.622	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		48	72	0	0	0	1	0	48	72					A	31422650	G	A	31422650	3	1	435	1	0	0	0	0	1	0	0	0	7884	1087	38	1	1573	1	ITGAD	16	31422650	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	50214	31422650	58932103	6892	27817											
ITGAD	3681	broad.mit.edu	37	chr16	31434701	31434701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcagccagcgagatctggCcatcagcattaacttctggg	9	9	10	13	1	4	1	2	0	2	1	4	2	4	1	3	2	4	1	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31434701C>T	ENST00000389202.2	+	25	2937	c.2888C>T	c.(2887-2889)gCc>gTc	p.A963V		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	963					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGAGATCTGGCCATCAGCATT	0.547																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2887-2889)gCc>gTc		integrin, alpha D							164	140	148					16																	31434701		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31434701C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2888C>T	16.37:g.31434701C>T	ENSP00000373854:p.Ala963Val						p.A963V	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			25	2937	+			963					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2888C>T	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048229	0.36181	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.47528	0.84	5.39	2.19	0.27852	Integrin alpha-2 (1);	.	.	.	.	T	0.31167	0.0788	L	0.27053	0.805	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.15484	0.013;0.013	T	0.21895	-1.0232	9	0.51188	T	0.08	.	4.6596	0.12636	0.1707:0.6476:0.0:0.1817	.	979;963	Q59H14;Q13349	.;ITAD_HUMAN	V	979;963	ENSP00000373854:A963V	ENSP00000373854:A963V	A	+	2	0	ITGAD	31342202	0.000000	0.05858	0.006000	0.13384	0.010000	0.07245	0.709000	0.25734	0.636000	0.30508	0.650000	0.86243	GCC		0.547	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		16	30	0	0	0	1	0	16	30					T	31434701	C	T	31434701	3	4	435	1	0	0	0	0	1	0	0	0	7884	739	26	3	2986	3	ITGAD	16	31434701	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12051	31434701	58920052	6893	27818											
ARMC5	79798	broad.mit.edu	37	chr16	31475817	31475817	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatggagccggccagcccCgccccgaccccgacctcgct	5	3	10	23	5	0	0	0	0	0	0	1	3	0	1	10	2	2	1	10	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31475817C>T	ENST00000563544.1	+	5	2019	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P	ARMC5_ENST00000457010.2_Silent_p.P491P|ARMC5_ENST00000538189.1_Silent_p.P523P|ARMC5_ENST00000408912.3_Silent_p.P586P|ARMC5_ENST00000412665.2_Silent_p.P135P|ARMC5_ENST00000268314.4_Silent_p.P491P			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	491										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGGCCAGCCCCGCCCCGACCC	0.731																																						ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1471-1473)ccC>ccT		armadillo repeat containing 5							9	12	11					16																	31475817		1838	4005	5843	SO:0001819	synonymous_variant	79798						binding	g.chr16:31475817C>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1473C>T	16.37:g.31475817C>T						ARMC5_ENST00000538189.1_Silent_p.P523P|ARMC5_ENST00000268314.4_Silent_p.P491P|ARMC5_ENST00000412665.2_Silent_p.P135P|ARMC5_ENST00000408912.3_Silent_p.P586P|ARMC5_ENST00000563544.1_Silent_p.P491P	p.P491P	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			4	2174	+			491					Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.1473C>T	CCDS45472.1																																																																																				0.731	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		6	10	0	0	0	1	0	6	10					T	31475817	C	T	31475817	2	4	435	1	0	0	0	0	0	0	0	1	954	639	23	2		2	ARMC5	16	31475817	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	41116	31475817	58878936	6894	27819											
SLC5A2	6524	broad.mit.edu	37	chr16	31497156	31497156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagcgcttcggcggccgccGcatccgcctctacctgtctg	4	8	11	18	6	2	0	0	0	2	0	4	0	3	0	5	2	2	2	5	2	2	2	rs377126753		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31497156G>A	ENST00000330498.3	+	4	429	c.410G>A	c.(409-411)cGc>cAc	p.R137H	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	137					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GGCGGCCGCCGCATCCGCCTC	0.602																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25	GRCh37	CM034968	SLC5A2	M		c.(409-411)cGc>cAc		solute carrier family 5 (sodium/glucose cotransporter), member 2		G	HIS/ARG	1,4393	2.1+/-5.4	0,1,2196	59	55	57		410	4.8	0.8	16		57	0,8600		0,0,4300	no	missense	SLC5A2	NM_003041.3	29	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	137/673	31497156	1,12993	2197	4300	6497	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31497156G>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.410G>A	16.37:g.31497156G>A	ENSP00000327943:p.Arg137His						p.R137H	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			4	429	+			137					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.410G>A	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045396	0.93685	2.28E-4	0.0	ENSG00000140675	ENST00000330498;ENST00000419665	D;D	0.88741	-2.42;-2.42	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.95421	0.8513	M	0.91300	3.195	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.96236	0.9172	10	0.87932	D	0	.	15.2908	0.73865	0.0:0.0:1.0:0.0	.	137	P31639	SC5A2_HUMAN	H	137	ENSP00000327943:R137H;ENSP00000410601:R137H	ENSP00000327943:R137H	R	+	2	0	SLC5A2	31404657	1.000000	0.71417	0.833000	0.33012	0.943000	0.58893	7.688000	0.84153	2.485000	0.83878	0.313000	0.20887	CGC		0.602	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			12	20	0	0	0	1	0	12	20					A	31497156	G	A	31497156	3	1	435	1	0	0	0	0	1	0	0	0	14665	1087	38	1	424	1	SLC5A2	16	31497156	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	21339	31497156	58857597	6895	27820											
SLC5A2	6524	broad.mit.edu	37	chr16	31500022	31500022	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttcaacagcagcagcacGctcttcaccatggacatcta	12	9	6	14	1	5	0	2	0	3	0	5	1	5	1	1	1	4	4	1	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31500022G>A	ENST00000330498.3	+	10	1228	c.1209G>A	c.(1207-1209)acG>acA	p.T403T	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	403					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GCAGCAGCACGCTCTTCACCA	0.701																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1207-1209)acG>acA		solute carrier family 5 (sodium/glucose cotransporter), member 2							29	26	27					16																	31500022		2197	4299	6496	SO:0001819	synonymous_variant	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31500022G>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1209G>A	16.37:g.31500022G>A							p.T403T	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			10	1228	+			403					A2RRD2	Silent	SNP	ENST00000330498.3	37	c.1209G>A	CCDS10714.1																																																																																				0.701	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			17	9	0	0	0	1	0	17	9					A	31500022	G	A	31500022	2	1	435	1	0	0	0	0	0	0	0	1	14665	1074	38	1		1	SLC5A2	16	31500022	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2866	31500022	58854731	6896	27821											
MYLK3	91807	broad.mit.edu	37	chr16	46771921	46771921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaggtggccagggaatgCctgggctgggccaggaacac	8	4	19	10	0	0	0	0	0	0	0	0	2	0	2	3	7	2	2	3	7	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:46771921C>T	ENST00000394809.4	-	3	818	c.703G>A	c.(703-705)Gca>Aca	p.A235T	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	235					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCAGGGAATGCCTGGGCTGGG	0.672																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(703-705)Gca>Aca		myosin light chain kinase 3							34	31	32					16																	46771921		2203	4300	6503	SO:0001583	missense	91807				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	g.chr16:46771921C>T	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.703G>A	16.37:g.46771921C>T	ENSP00000378288:p.Ala235Thr					MYLK3_ENST00000536476.1_Intron	p.A235T	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			3	818	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	235					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.703G>A	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	1.034	-0.680908	0.03353	.	.	ENSG00000140795	ENST00000394809	T	0.68025	-0.3	5.0	1.61	0.23674	.	2.358630	0.02563	N	0.096985	T	0.45796	0.1360	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.30909	-0.9962	10	0.10377	T	0.69	.	4.0213	0.09667	0.0:0.5067:0.2657:0.2277	.	235	Q32MK0	MYLK3_HUMAN	T	235	ENSP00000378288:A235T	ENSP00000378288:A235T	A	-	1	0	MYLK3	45329422	0.000000	0.05858	0.041000	0.18516	0.007000	0.05969	-0.051000	0.11885	0.599000	0.29845	-0.140000	0.14226	GCA		0.672	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		10	15	0	0	0	1	0	10	15					T	46771921	C	T	46771921	3	4	435	1	0	0	0	0	1	0	0	0	10058	739	26	3	1800	3	MYLK3	16	46771921	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15271899	46771921	43582832	6897	27822											
ITFG1	81533	broad.mit.edu	37	chr16	47488059	47488059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactacacttgttatcaatgCactgtgattcctaaaagaaa	15	12	6	8	0	1	2	1	1	0	1	2	3	2	2	1	0	2	2	1	0	6	5	rs148994423	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:47488059C>T	ENST00000320640.6	-	3	520	c.292G>A	c.(292-294)Gca>Aca	p.A98T	ITFG1_ENST00000544001.2_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	98						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				GTTATCAATGCACTGTGATTC	0.343																																						ENST00000320640.6																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(292-294)Gca>Aca		integrin alpha FG-GAP repeat containing 1		C	THR/ALA	0,4402		0,0,2201	131	132	132		292	-3.7	0.9	16	dbSNP_134	132	11,8589	8.4+/-32.0	0,11,4289	yes	missense	ITFG1	NM_030790.3	58	0,11,6490	TT,TC,CC		0.1279,0.0,0.0846	benign	98/613	47488059	11,12991	2201	4300	6501	SO:0001583	missense	81533					extracellular region|integral to membrane		g.chr16:47488059C>T	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"T cell immunomodulatory protein"	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.292G>A	16.37:g.47488059C>T	ENSP00000319918:p.Ala98Thr					ITFG1_ENST00000544001.2_5'UTR	p.A98T	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			3	520	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	98					Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	c.292G>A	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410498	0.42715	0.0	0.001279	ENSG00000129636	ENST00000320640	.	.	.	5.99	-3.67	0.04476	.	0.482852	0.21375	N	0.075570	T	0.31670	0.0804	N	0.19112	0.55	0.58432	D	0.999991	B	0.09022	0.002	B	0.10450	0.005	T	0.08764	-1.0706	9	0.13470	T	0.59	-24.5385	8.2649	0.31808	0.0986:0.5367:0.0:0.3646	.	98	Q8TB96	TIP_HUMAN	T	98	.	ENSP00000319918:A98T	A	-	1	0	ITFG1	46045560	0.213000	0.23551	0.943000	0.38184	0.993000	0.82548	0.069000	0.14552	-0.398000	0.07679	0.655000	0.94253	GCA		0.343	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		46	86	0	0	0	1	0	46	86					T	47488059	C	T	47488059	3	4	435	1	0	0	0	0	1	0	0	0	7869	710	25	3	1610	3	ITFG1	16	47488059	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	716138	47488059	42866694	6898	27823											
ABCC12	94160	broad.mit.edu	37	chr16	48121986	48121986	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaaacaaagccattcctaaCgatgactttcctgggaacca	14	8	7	12	2	0	1	0	1	0	0	2	4	2	2	4	1	4	0	4	1	4	3	rs368132634		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:48121986C>T	ENST00000311303.3	-	25	3831	c.3486G>A	c.(3484-3486)tcG>tcA	p.S1162S	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'Flank	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1162	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.S1162S(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCATTCCTAACGATGACTTTC	0.413																																						ENST00000311303.3																			1	Substitution - coding silent(1)	p.S1162S(1)	lung(1)	NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(3484-3486)tcG>tcA		ATP-binding cassette, sub-family C (CFTR/MRP), member 12		C		0,4402		0,0,2201	59	51	54		3486	-11.9	0	16		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCC12	NM_033226.2		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		1162/1360	48121986	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48121986C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3486G>A	16.37:g.48121986C>T						ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	p.S1162S	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			25	3831	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1162			ABC transporter 2.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.3486G>A	CCDS10730.1																																																																																				0.413	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		11	23	0	0	0	1	0	11	23					T	48121986	C	T	48121986	2	4	435	1	0	0	0	0	0	0	0	1	52	523	19	1		1	ABCC12	16	48121986	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	633927	48121986	42232767	6899	27824											
ABCC12	94160	broad.mit.edu	37	chr16	48149394	48149394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaatgcactcctcaaagaCgtgcttccccacgtgggcgt	8	10	9	14	3	1	1	1	0	0	1	3	1	3	1	3	1	2	2	3	1	2	2	rs200400469		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:48149394C>T	ENST00000311303.3	-	13	2266	c.1921G>A	c.(1921-1923)Gtc>Atc	p.V641I	ABCC12_ENST00000416054.1_Silent_p.T616T|ABCC12_ENST00000448542.1_Missense_Mutation_p.V641I	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	641	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCCTCAAAGACGTGCTTCCCC	0.617													C|||	1	0.000199681	0	0	5008	,	,		18728	0.001		0	False		,,,				2504	0					ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(1921-1923)Gtc>Atc		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							166	149	155					16																	48149394		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48149394C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1921G>A	16.37:g.48149394C>T	ENSP00000311030:p.Val641Ile					ABCC12_ENST00000448542.1_Missense_Mutation_p.V641I|ABCC12_ENST00000416054.1_Silent_p.T616T	p.V641I	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			13	2266	-		all_cancers(37;0.0474)|all_lung(18;0.047)	641			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.1921G>A	CCDS10730.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.017	-1.503989	0.00992	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	D;D	0.84800	-1.9;-1.9	5.24	-1.98	0.07480	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.229039	0.41294	N	0.000903	T	0.58694	0.2140	N	0.03194	-0.395	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.54357	-0.8306	10	0.02654	T	1	.	10.013	0.41997	0.0:0.2947:0.0:0.7053	.	641	Q96J65	MRP9_HUMAN	I	641;641;583	ENSP00000311030:V641I;ENSP00000401855:V641I	ENSP00000311030:V641I	V	-	1	0	ABCC12	46706895	0.926000	0.31397	0.042000	0.18584	0.127000	0.20565	1.596000	0.36718	-0.142000	0.11354	-1.232000	0.01568	GTC		0.617	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		41	39	0	0	0	1	0	41	39					T	48149394	C	T	48149394	3	4	435	1	0	0	0	0	1	0	0	0	52	536	19	1	2226	1	ABCC12	16	48149394	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27408	48149394	42205359	6900	27825											
ABCC12	94160	broad.mit.edu	37	chr16	48173142	48173142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccccagaatgaaaaaggCgtacgccgcacaaaagacca	16	2	11	12	3	0	3	0	1	0	2	0	3	0	3	4	2	1	2	4	2	6	1	rs543162145	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:48173142C>T	ENST00000311303.3	-	5	1108	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	ABCC12_ENST00000416054.1_Missense_Mutation_p.A255T|ABCC12_ENST00000448542.1_Missense_Mutation_p.A255T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	255	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATGAAAAAGGCGTACGCCGCA	0.473													C|||	2	0.000399361	0	0.0014	5008	,	,		19482	0		0	False		,,,				2504	0.001					ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(763-765)Gcc>Acc		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							125	114	118					16																	48173142		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48173142C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.763G>A	16.37:g.48173142C>T	ENSP00000311030:p.Ala255Thr					ABCC12_ENST00000448542.1_Missense_Mutation_p.A255T|ABCC12_ENST00000416054.1_Missense_Mutation_p.A255T	p.A255T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			5	1108	-		all_cancers(37;0.0474)|all_lung(18;0.047)	255			ABC transmembrane type-1 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.763G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803115	0.31869	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000416054	D;D;D	0.89617	-2.54;-2.54;-2.54	5.88	4.88	0.63580	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.117210	0.56097	D	0.000025	T	0.74839	0.3769	N	0.21240	0.645	0.52501	D	0.999953	P;B	0.44734	0.842;0.014	B;B	0.38921	0.285;0.03	T	0.75277	-0.3374	10	0.02654	T	1	.	6.7966	0.23729	0.2638:0.6539:0.0:0.0823	.	255;255	Q96J65-2;Q96J65	.;MRP9_HUMAN	T	255	ENSP00000311030:A255T;ENSP00000401855:A255T;ENSP00000413046:A255T	ENSP00000311030:A255T	A	-	1	0	ABCC12	46730643	0.067000	0.21026	0.971000	0.41717	0.479000	0.33129	0.252000	0.18278	2.774000	0.95407	0.655000	0.94253	GCC		0.473	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		28	35	0	0	0	1	0	28	35					T	48173142	C	T	48173142	3	4	435	1	0	0	0	0	1	0	0	0	52	768	27	1	3416	1	ABCC12	16	48173142	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	23748	48173142	42181611	6901	27826											
ABCC11	85320	broad.mit.edu	37	chr16	48239325	48239325	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccctcccaggagcttaccGggccttgtcatatgcgcctc	5	10	9	17	2	1	0	1	0	0	0	4	1	3	1	6	2	3	1	6	2	2	3	rs142338810		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:48239325G>A	ENST00000394747.1	-	12	2153	c.1804C>T	c.(1804-1806)Cga>Tga	p.R602*	ABCC11_ENST00000394748.1_Splice_Site_p.R602*|ABCC11_ENST00000353782.5_Splice_Site_p.R602*|ABCC11_ENST00000537808.1_Splice_Site_p.R602*|ABCC11_ENST00000356608.2_Splice_Site_p.R602*	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	602	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GGAGCTTACCGGGCCTTGTCA	0.602													G|||	1	0.000199681	0	0	5008	,	,		18402	0		0.001	False		,,,				2504	0					ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.e12+1		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							155	144	147					16																	48239325		2201	4300	6501	SO:0001630	splice_region_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48239325G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1805+1C>T	16.37:g.48239325G>A						ABCC11_ENST00000353782.5_Splice_Site_p.R602_splice|ABCC11_ENST00000394748.1_Splice_Site_p.R602_splice|ABCC11_ENST00000356608.2_Splice_Site_p.R602_splice|ABCC11_ENST00000537808.1_Splice_Site_p.R602_splice	p.R602_splice	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			12	2153	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	602			ABC transporter 1.		Q8TDJ0|Q96JA6|Q9BX80	Splice_Site	SNP	ENST00000394747.1	37	c.1805_splice	CCDS10732.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	41	8.933768	0.99008	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	.	.	.	4.86	-6.67	0.01783	.	0.200986	0.39475	N	0.001360	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2668	5.0397	0.14452	0.3251:0.0:0.1785:0.4964	.	.	.	.	X	602	.	ENSP00000311326:R602X	R	-	1	2	ABCC11	46796826	0.003000	0.15002	0.009000	0.14445	0.838000	0.47535	-0.027000	0.12371	-0.879000	0.04002	0.563000	0.77884	CGA		0.602	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	Nonsense_Mutation	14	96	0	0	0	1	0	14	96					A	48239325	G	A	48239325	5	1	435	1	0	0	0	0	0	0	1	0	51	1130	39	2	2416	2	ABCC11	16	48239325	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	66183	48239325	42115428	6902	27827											
ABCC11	85320	broad.mit.edu	37	chr16	48247384	48247384	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcactgcagacttggaattCgtgagacctttgactgcaat	11	12	9	9	1	1	3	1	2	0	2	2	5	1	4	1	1	2	2	1	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:48247384C>T	ENST00000394747.1	-	9	1675	c.1326G>A	c.(1324-1326)acG>acA	p.T442T	ABCC11_ENST00000394748.1_Silent_p.T442T|ABCC11_ENST00000353782.5_Silent_p.T442T|ABCC11_ENST00000537808.1_Silent_p.T442T|ABCC11_ENST00000356608.2_Silent_p.T442T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	442	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	ACTTGGAATTCGTGAGACCTT	0.547																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(1324-1326)acG>acA		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							114	92	99					16																	48247384		2201	4300	6501	SO:0001819	synonymous_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48247384C>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1326G>A	16.37:g.48247384C>T						ABCC11_ENST00000353782.5_Silent_p.T442T|ABCC11_ENST00000394748.1_Silent_p.T442T|ABCC11_ENST00000356608.2_Silent_p.T442T|ABCC11_ENST00000537808.1_Silent_p.T442T	p.T442T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			9	1675	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	442			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.1326G>A	CCDS10732.1																																																																																				0.547	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		8	19	0	0	0	1	0	8	19					T	48247384	C	T	48247384	2	4	435	1	0	0	0	0	0	0	0	1	51	871	31	2		2	ABCC11	16	48247384	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8059	48247384	42107369	6903	27828											
ABCC11	85320	broad.mit.edu	37	chr16	48250197	48250197	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccggtgaagaagctgatgGcctgcaagacagcaagttga	13	6	13	9	1	0	5	0	3	0	2	0	5	0	5	2	2	3	4	2	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:48250197G>A	ENST00000394747.1	-	6	1128	c.779C>T	c.(778-780)gCc>gTc	p.A260V	ABCC11_ENST00000394748.1_Splice_Site_p.A260V|ABCC11_ENST00000353782.5_Splice_Site_p.A260V|ABCC11_ENST00000537808.1_Splice_Site_p.A260V|ABCC11_ENST00000356608.2_Splice_Site_p.A260V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	260	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GAAGCTGATGGCCTGCAAGAC	0.557																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.e6-1		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							140	123	129					16																	48250197		2201	4300	6501	SO:0001630	splice_region_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48250197G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.778-1C>T	16.37:g.48250197G>A						ABCC11_ENST00000353782.5_Splice_Site_p.A260_splice|ABCC11_ENST00000394748.1_Splice_Site_p.A260_splice|ABCC11_ENST00000356608.2_Splice_Site_p.A260_splice|ABCC11_ENST00000537808.1_Splice_Site_p.A260_splice	p.A260_splice	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			6	1128	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	260			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Splice_Site	SNP	ENST00000394747.1	37	c.777_splice	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	3.449	-0.112375	0.06881	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43	4.89	0.9	0.19278	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.537137	0.19085	N	0.123128	T	0.79028	0.4377	L	0.35288	1.05	0.27181	N	0.960672	B;B	0.19935	0.04;0.0	B;B	0.20184	0.028;0.004	T	0.61207	-0.7109	10	0.15066	T	0.55	-6.2433	7.2265	0.26018	0.3821:0.0:0.6179:0.0	.	260;260	Q96J66-2;Q96J66	.;ABCCB_HUMAN	V	260	ENSP00000311326:A260V;ENSP00000349017:A260V;ENSP00000378231:A260V;ENSP00000378230:A260V;ENSP00000438530:A260V	ENSP00000311326:A260V	A	-	2	0	ABCC11	46807698	1.000000	0.71417	0.995000	0.50966	0.724000	0.41520	0.779000	0.26746	-0.008000	0.14320	0.655000	0.94253	GCC		0.557	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	Missense_Mutation	39	39	0	0	0	1	0	39	39					A	48250197	G	A	48250197	5	1	435	1	0	0	0	0	0	0	1	0	51	1217	42	3	3465	3	ABCC11	16	48250197	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2813	48250197	42104556	6904	27829											
ABCC11	85320	broad.mit.edu	37	chr16	48264351	48264351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccatcaggactcacctcGgcttgggacggaagggaatc	9	6	12	14	2	2	0	2	0	0	0	4	4	2	4	3	5	0	1	3	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:48264351G>A	ENST00000394747.1	-	2	582	c.233C>T	c.(232-234)cCg>cTg	p.P78L	ABCC11_ENST00000394748.1_Missense_Mutation_p.P78L|ABCC11_ENST00000353782.5_Missense_Mutation_p.P78L|ABCC11_ENST00000537808.1_Missense_Mutation_p.P78L|ABCC11_ENST00000356608.2_Missense_Mutation_p.P78L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	78					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.P78L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GACTCACCTCGGCTTGGGACG	0.572																																						ENST00000394747.1																			1	Substitution - Missense(1)	p.P78L(1)	skin(1)	breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(232-234)cCg>cTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							87	80	82					16																	48264351		2200	4300	6500	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48264351G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.233C>T	16.37:g.48264351G>A	ENSP00000378230:p.Pro78Leu					ABCC11_ENST00000353782.5_Missense_Mutation_p.P78L|ABCC11_ENST00000394748.1_Missense_Mutation_p.P78L|ABCC11_ENST00000356608.2_Missense_Mutation_p.P78L|ABCC11_ENST00000537808.1_Missense_Mutation_p.P78L	p.P78L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			2	582	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	78					Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.233C>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940095	0.52972	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92699	-2.88;-2.79;-2.79;-2.79;-3.09	4.84	4.84	0.62591	.	0.141220	0.49916	D	0.000133	D	0.94245	0.8152	M	0.61703	1.905	0.39711	D	0.971329	D;D	0.76494	0.999;0.997	P;P	0.61070	0.883;0.861	D	0.94841	0.8005	10	0.54805	T	0.06	.	14.8552	0.70332	0.0:0.0:1.0:0.0	.	78;78	Q96J66-2;Q96J66	.;ABCCB_HUMAN	L	78	ENSP00000311326:P78L;ENSP00000349017:P78L;ENSP00000378231:P78L;ENSP00000378230:P78L;ENSP00000438530:P78L	ENSP00000311326:P78L	P	-	2	0	ABCC11	46821852	0.954000	0.32549	0.919000	0.36401	0.626000	0.37791	4.337000	0.59310	2.231000	0.72958	0.591000	0.81541	CCG		0.572	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		8	11	0	0	0	1	0	8	11					A	48264351	G	A	48264351	3	1	435	1	0	0	0	0	1	0	0	0	51	1116	39	2	4027	2	ABCC11	16	48264351	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14154	48264351	42090402	6905	27830											
PAPD5	64282	broad.mit.edu	37	chr16	50245299	50245299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgaggaggagaagatgcGgatggaggtggtgaacagga	13	5	19	4	1	0	4	0	2	0	2	0	9	0	8	1	7	2	0	1	7	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:50245299G>A	ENST00000561678.1	+	2	532	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	PAPD5_ENST00000436909.3_Missense_Mutation_p.R220Q|PAPD5_ENST00000357464.3_Missense_Mutation_p.R141Q			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	141					histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GAGAAGATGCGGATGGAGGTG	0.458																																						ENST00000357464.3																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(421-423)cGg>cAg		PAP associated domain containing 5							112	115	114					16																	50245299		2030	4190	6220	SO:0001583	missense	64282				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr16:50245299G>A	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"TUTase3"	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.458G>A	16.37:g.50245299G>A	ENSP00000455837:p.Arg153Gln					PAPD5_ENST00000436909.3_Missense_Mutation_p.R220Q|PAPD5_ENST00000561678.1_Missense_Mutation_p.R153Q	p.R141Q			Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	3	422	+		all_cancers(37;0.0452)	141					B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37	c.422G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.717000	0.96830	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.64618	-0.11;0.44	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.81898	0.4920	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84048	0.0368	10	0.87932	D	0	.	19.2241	0.93810	0.0:0.0:1.0:0.0	.	220;141	B4DV38;Q8NDF8	.;PAPD5_HUMAN	Q	220;141	ENSP00000396995:R220Q;ENSP00000350054:R141Q	ENSP00000350054:R141Q	R	+	2	0	PAPD5	48802800	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.427000	0.97472	2.636000	0.89361	0.591000	0.81541	CGG		0.458	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447		11	20	0	0	0	1	0	11	20					A	50245299	G	A	50245299	3	1	435	1	0	0	0	0	1	0	0	0	11425	1116	39	2	669	2	PAPD5	16	50245299	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1980948	50245299	40109454	6906	27831											
PAPD5	64282	broad.mit.edu	37	chr16	50261831	50261831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgagtagggtcgcaagatGtatccttggagtcctctcag	9	10	12	10	2	1	1	1	0	1	1	5	3	3	2	3	2	0	3	3	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:50261831G>A	ENST00000561678.1	+	10	1581	c.1507G>A	c.(1507-1509)Gta>Ata	p.V503I	PAPD5_ENST00000436909.3_Missense_Mutation_p.V613I|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000357464.3_Missense_Mutation_p.V534I			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	487	Ser-rich.				histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GTCGCAAGATGTATCCTTGGA	0.517																																						ENST00000357464.3																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(1600-1602)Gta>Ata		PAP associated domain containing 5							107	104	105					16																	50261831		1959	4149	6108	SO:0001583	missense	64282				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr16:50261831G>A	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"TUTase3"	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.1507G>A	16.37:g.50261831G>A	ENSP00000455837:p.Val503Ile					PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000436909.3_Missense_Mutation_p.V613I|PAPD5_ENST00000561678.1_Missense_Mutation_p.V503I	p.V534I			Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	12	1600	+		all_cancers(37;0.0452)	487					B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37	c.1600G>A		.	.	.	.	.	.	.	.	.	.	G	16.33	3.092002	0.55968	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.47869	0.83;0.83	6.17	6.17	0.99709	.	0.650048	0.16437	N	0.214465	T	0.27063	0.0663	N	0.08118	0	0.28301	N	0.923129	B;B	0.17852	0.024;0.0	B;B	0.12156	0.007;0.001	T	0.10636	-1.0621	10	0.25106	T	0.35	.	9.8193	0.40871	0.0689:0.0:0.7908:0.1402	.	613;487	B4DV38;Q8NDF8	.;PAPD5_HUMAN	I	613;534	ENSP00000396995:V613I;ENSP00000350054:V534I	ENSP00000350054:V534I	V	+	1	0	PAPD5	48819332	0.953000	0.32496	0.827000	0.32855	0.957000	0.61999	2.334000	0.43920	2.941000	0.99782	0.655000	0.94253	GTA		0.517	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447		15	25	0	0	0	1	0	15	25					A	50261831	G	A	50261831	3	1	435	1	0	0	0	0	1	0	0	0	11425	1377	48	3	1883	3	PAPD5	16	50261831	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16532	50261831	40092922	6907	27832											
SNX20	124460	broad.mit.edu	37	chr16	50707468	50707468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatggcgtccagcagaggcGcatagtagcgatggccctcc	8	6	13	14	3	0	1	0	0	0	1	2	2	2	1	4	3	2	3	4	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:50707468G>A	ENST00000330943.4	-	4	971	c.800C>T	c.(799-801)gCg>gTg	p.A267V	SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570241.2_RNA|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	267					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CAGCAGAGGCGCATAGTAGCG	0.721																																						ENST00000330943.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						c.(799-801)gCg>gTg		sorting nexin 20							21	22	22					16																	50707468		2190	4288	6478	SO:0001583	missense	124460				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50707468G>A	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"Sorting nexins"	30390	protein-coding gene	gene with protein product	"selectin ligand interactor cytoplasmic 1"	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.800C>T	16.37:g.50707468G>A	ENSP00000332062:p.Ala267Val					SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron	p.A267V	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN			4	971	-			267					A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	c.800C>T	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	G	9.619	1.133206	0.21041	.	.	ENSG00000167208	ENST00000330943	T	0.65732	-0.17	5.89	1.66	0.24008	.	0.673426	0.15324	N	0.268390	T	0.38904	0.1058	N	0.25380	0.74	0.25851	N	0.983931	B	0.18968	0.032	B	0.09377	0.004	T	0.20371	-1.0277	10	0.07990	T	0.79	-17.608	5.2347	0.15441	0.3417:0.1427:0.5156:0.0	.	267	Q7Z614	SNX20_HUMAN	V	267	ENSP00000332062:A267V	ENSP00000332062:A267V	A	-	2	0	SNX20	49264969	0.219000	0.23619	0.869000	0.34112	0.926000	0.56050	1.237000	0.32695	0.379000	0.24794	0.561000	0.74099	GCG		0.721	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		11	14	0	0	0	1	0	11	14					A	50707468	G	A	50707468	3	1	435	1	0	0	0	0	1	0	0	0	14892	1087	38	1	297	1	SNX20	16	50707468	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	445637	50707468	39647285	6908	27833											
NOD2	64127	broad.mit.edu	37	chr16	50733610	50733610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggacaccgtctggaataaGggtacttgggcctgtcagaa	10	9	13	9	1	2	1	1	0	1	1	2	3	2	3	2	4	1	1	2	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:50733610G>T	ENST00000300589.2	+	2	390	c.285G>T	c.(283-285)aaG>aaT	p.K95N	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	95	CARD 1. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TCTGGAATAAGGGTACTTGGG	0.657																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(283-285)aaG>aaT		nucleotide-binding oligomerization domain containing 2							36	40	39					16																	50733610		2198	4300	6498	SO:0001583	missense	64127				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	g.chr16:50733610G>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.285G>T	16.37:g.50733610G>T	ENSP00000300589:p.Lys95Asn					NOD2_ENST00000526417.2_3'UTR	p.K95N	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			2	390	+		all_cancers(37;0.0156)	95			CARD 1.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.285G>T	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511196	0.44660	.	.	ENSG00000167207	ENST00000526417;ENST00000531674;ENST00000300589	T;T	0.30714	1.52;1.52	5.11	-0.331	0.12679	DEATH-like (2);Caspase Recruitment (3);	0.000000	0.53938	D	0.000051	T	0.44222	0.1283	L	0.59436	1.845	0.46981	D	0.999274	D	0.89917	1.0	D	0.87578	0.998	T	0.34576	-0.9823	10	0.87932	D	0	.	7.555	0.27819	0.4654:0.0:0.5346:0.0	.	95	Q9HC29	NOD2_HUMAN	N	68;68;95	ENSP00000431681:K68N;ENSP00000300589:K95N	ENSP00000300589:K95N	K	+	3	2	NOD2	49291111	1.000000	0.71417	0.902000	0.35471	0.237000	0.25408	0.208000	0.17415	0.177000	0.19895	-0.218000	0.12543	AAG		0.657	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		12	26	1	0	2.68362e-12	1	2.90084e-12	12	26					T	50733610	G	T	50733610	3	4	435	1	0	0	0	0	1	0	0	0	10517	991	35	5	291	5	NOD2	16	50733610	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26142	50733610	39621143	6909	27834											
NOD2	64127	broad.mit.edu	37	chr16	50750840	50750840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gactgacggctgtgcacactCcatggctaagctccttgcat	8	10	10	13	1	0	1	0	1	0	0	2	2	2	1	2	2	3	5	2	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:50750840C>T	ENST00000300589.2	+	6	2690	c.2585C>T	c.(2584-2586)tCc>tTc	p.S862F		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	862					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGTGCACACTCCATGGCTAAG	0.468																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(2584-2586)tCc>tTc		nucleotide-binding oligomerization domain containing 2							193	183	186					16																	50750840		2198	4300	6498	SO:0001583	missense	64127				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	g.chr16:50750840C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2585C>T	16.37:g.50750840C>T	ENSP00000300589:p.Ser862Phe						p.S862F	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			6	2690	+		all_cancers(37;0.0156)	862					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.2585C>T	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	4.480	0.088943	0.08583	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.54071	0.59	5.76	5.76	0.90799	.	0.526691	0.19907	N	0.103388	T	0.58395	0.2119	M	0.65975	2.015	0.36011	D	0.83808	P	0.52170	0.951	P	0.49953	0.627	T	0.59726	-0.7400	10	0.11182	T	0.66	.	15.4789	0.75508	0.0:1.0:0.0:0.0	.	862	Q9HC29	NOD2_HUMAN	F	835;862	ENSP00000300589:S862F	ENSP00000300589:S862F	S	+	2	0	NOD2	49308341	0.646000	0.27295	0.608000	0.28969	0.109000	0.19521	3.539000	0.53604	2.719000	0.93026	0.555000	0.69702	TCC		0.468	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		48	61	0	0	0	1	0	48	61					T	50750840	C	T	50750840	3	4	435	1	0	0	0	0	1	0	0	0	10517	855	30	3	2607	3	NOD2	16	50750840	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17230	50750840	39603913	6910	27835											
CYLD	1540	broad.mit.edu	37	chr16	50828294	50828294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttttgtgaagtatgggaagGacgattctgcctggctcttc	7	14	12	8	1	2	1	0	1	2	0	3	4	2	3	1	3	1	2	1	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:50828294G>A	ENST00000427738.3	+	17	2846	c.2641G>A	c.(2641-2643)Gac>Aac	p.D881N	CYLD_ENST00000566206.1_Missense_Mutation_p.D878N|CYLD_ENST00000540145.1_Missense_Mutation_p.D881N|CYLD_ENST00000398568.2_Missense_Mutation_p.D878N|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.D881N|CYLD_ENST00000564326.1_Missense_Mutation_p.D878N|CYLD_ENST00000569418.1_Missense_Mutation_p.D878N|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Missense_Mutation_p.D696N			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	881	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GTATGGGAAGGACGATTCTGC	0.493			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"Mis, N, F, S"	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(2641-2643)Gac>Aac		cylindromatosis (turban tumor syndrome)							199	199	199					16																	50828294		1984	4156	6140	SO:0001583	missense	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	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	g.chr16:50828294G>A	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"ubiquitin specific peptidase like 2"	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2641G>A	16.37:g.50828294G>A	ENSP00000392025:p.Asp881Asn					CYLD_ENST00000569418.1_Missense_Mutation_p.D878N|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Missense_Mutation_p.D696N|CYLD_ENST00000566206.1_Missense_Mutation_p.D878N|CYLD_ENST00000427738.3_Missense_Mutation_p.D881N|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000398568.2_Missense_Mutation_p.D878N|CYLD_ENST00000311559.9_Missense_Mutation_p.D881N|CYLD_ENST00000564326.1_Missense_Mutation_p.D878N	p.D881N			Q9NQC7	CYLD_HUMAN			18	3056	+		all_cancers(37;0.0156)	881					O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.2641G>A	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458122	0.84317	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.44881	0.91;0.91;0.91	5.68	5.68	0.88126	.	0.088182	0.85682	D	0.000000	T	0.39436	0.1078	N	0.24115	0.695	0.80722	D	1	P;P	0.47191	0.891;0.867	P;B	0.45753	0.492;0.359	T	0.12167	-1.0558	10	0.41790	T	0.15	-32.7773	20.1615	0.98135	0.0:0.0:1.0:0.0	.	878;878	A8KAB0;Q9NQC7-2	.;.	N	881;881;878;878	ENSP00000445447:D881N;ENSP00000308928:D881N;ENSP00000381574:D878N	ENSP00000308928:D881N	D	+	1	0	CYLD	49385795	1.000000	0.71417	0.976000	0.42696	0.983000	0.72400	9.361000	0.97122	2.835000	0.97688	0.650000	0.86243	GAC		0.493	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			20	117	0	0	0	1	0	20	117					A	50828294	G	A	50828294	3	1	435	1	0	0	0	0	1	0	0	0	4143	1174	41	3	2703	3	CYLD	16	50828294	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	77454	50828294	39526459	6911	27836											
CYLD	1540	broad.mit.edu	37	chr16	50830336	50830336	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcattccttggactccaggAgaatccaaggctgtgcacga	10	9	11	11	1	0	1	0	0	0	1	3	4	3	2	3	3	2	3	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:50830336A>G	ENST00000427738.3	+	18	2993	c.2788A>G	c.(2788-2790)Aga>Gga	p.R930G	CYLD_ENST00000540145.1_Missense_Mutation_p.R930G|CYLD_ENST00000398568.2_Missense_Mutation_p.R927G|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.R930G|CYLD_ENST00000564326.1_Missense_Mutation_p.R927G|CYLD_ENST00000569418.1_Missense_Mutation_p.R927G|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Missense_Mutation_p.R745G			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	930	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGACTCCAGGAGAATCCAAGG	0.468			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"Mis, N, F, S"	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(2788-2790)Aga>Gga		cylindromatosis (turban tumor syndrome)							110	107	108					16																	50830336		1931	4148	6079	SO:0001583	missense	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	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	g.chr16:50830336A>G	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"ubiquitin specific peptidase like 2"	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2788A>G	16.37:g.50830336A>G	ENSP00000392025:p.Arg930Gly					CYLD_ENST00000569418.1_Missense_Mutation_p.R927G|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Missense_Mutation_p.R745G|CYLD_ENST00000427738.3_Missense_Mutation_p.R930G|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000398568.2_Missense_Mutation_p.R927G|CYLD_ENST00000311559.9_Missense_Mutation_p.R930G|CYLD_ENST00000564326.1_Missense_Mutation_p.R927G	p.R930G			Q9NQC7	CYLD_HUMAN			19	3203	+		all_cancers(37;0.0156)	930					O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.2788A>G	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.127912	0.37533	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	D;D;D	0.93547	-3.24;-3.24;-3.24	5.9	3.59	0.41128	.	0.131795	0.64402	D	0.000002	D	0.84392	0.5462	N	0.08118	0	0.38493	D	0.948028	B	0.23249	0.082	B	0.21708	0.036	T	0.76372	-0.2983	10	0.23891	T	0.37	-28.7807	12.8476	0.57839	0.7178:0.2822:0.0:0.0	.	927	Q9NQC7-2	.	G	930;930;927;927	ENSP00000445447:R930G;ENSP00000308928:R930G;ENSP00000381574:R927G	ENSP00000308928:R930G	R	+	1	2	CYLD	49387837	1.000000	0.71417	0.643000	0.29450	0.866000	0.49608	4.031000	0.57267	0.452000	0.26830	0.533000	0.62120	AGA		0.468	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			15	34	0	0	0	1	0	15	34					G	50830336	A	G	50830336	3	3	435	1	0	0	0	0	1	0	0	0	4143	296	11	4	2854	4	CYLD	16	50830336	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2042	50830336	39524417	6912	27837											
SALL1	6299	broad.mit.edu	37	chr16	51174623	51174623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggttcatctggatatgagGgtatttctctttgtggcgct	5	16	14	6	1	3	1	1	1	2	0	4	2	3	2	0	5	0	3	0	5	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:51174623G>A	ENST00000251020.4	-	2	1543	c.1510C>T	c.(1510-1512)Cct>Tct	p.P504S	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.P407S	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	504					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			TGGATATGAGGGTATTTCTCT	0.517																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				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						c.(1219-1221)Cct>Tct		spalt-like transcription factor 1							110	105	107					16																	51174623		2198	4300	6498	SO:0001583	missense	6299				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	g.chr16:51174623G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1510C>T	16.37:g.51174623G>A	ENSP00000251020:p.Pro504Ser					SALL1_ENST00000251020.4_Missense_Mutation_p.P504S|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	p.P407S	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1650	-		all_cancers(37;0.0322)	504					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1219C>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843010	0.71488	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.12039	2.75;2.72	5.29	5.29	0.74685	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.45804	-0.9236	10	0.51188	T	0.08	-14.4214	18.9361	0.92586	0.0:0.0:1.0:0.0	.	504	Q9NSC2	SALL1_HUMAN	S	504;407;468	ENSP00000251020:P504S;ENSP00000407914:P407S	ENSP00000251020:P504S	P	-	1	0	SALL1	49732124	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.458000	0.83093	0.563000	0.77884	CCT		0.517	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		35	45	0	0	0	1	0	35	45					A	51174623	G	A	51174623	3	1	435	1	0	0	0	0	1	0	0	0	13810	1232	43	3	2472	3	SALL1	16	51174623	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	344287	51174623	39180130	6913	27838											
SALL1	6299	broad.mit.edu	37	chr16	51174772	51174772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcccaaagaccttcgcgCagaacctgcacttgtgtttg	9	10	8	14	2	0	2	0	0	0	2	2	2	1	2	3	0	2	3	3	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:51174772C>T	ENST00000251020.4	-	2	1394	c.1361G>A	c.(1360-1362)tGc>tAc	p.C454Y	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.C357Y	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	454					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			GACCTTCGCGCAGAACCTGCA	0.517																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				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						c.(1069-1071)tGc>tAc		spalt-like transcription factor 1							105	97	99					16																	51174772		2198	4300	6498	SO:0001583	missense	6299				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	g.chr16:51174772C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1361G>A	16.37:g.51174772C>T	ENSP00000251020:p.Cys454Tyr					SALL1_ENST00000251020.4_Missense_Mutation_p.C454Y|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	p.C357Y	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1501	-		all_cancers(37;0.0322)	454					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1070G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499849	0.64298	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.57752	0.38;0.38	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.75982	0.3924	M	0.84219	2.685	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.79790	-0.1655	10	0.66056	D	0.02	.	18.685	0.91560	0.0:1.0:0.0:0.0	.	454	Q9NSC2	SALL1_HUMAN	Y	454;357;418	ENSP00000251020:C454Y;ENSP00000407914:C357Y	ENSP00000251020:C454Y	C	-	2	0	SALL1	49732273	1.000000	0.71417	0.977000	0.42913	0.987000	0.75469	7.814000	0.86154	2.386000	0.81285	0.563000	0.77884	TGC		0.517	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		17	70	0	0	0	1	0	17	70					T	51174772	C	T	51174772	3	4	435	1	0	0	0	0	1	0	0	0	13810	710	25	3	2621	3	SALL1	16	51174772	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	149	51174772	39179981	6914	27839											
TOX3	27324	broad.mit.edu	37	chr16	52484395	52484395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcatcggtcatgtggaCgatggaccgcatgatcaggg	9	7	15	10	4	2	1	2	1	0	0	3	4	2	3	1	4	1	3	1	4	0	0	rs369028802		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:52484395C>T	ENST00000219746.9	-	4	756	c.472G>A	c.(472-474)Gtc>Atc	p.V158I	TOX3_ENST00000407228.3_Missense_Mutation_p.V153I	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	158					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GTCATGTGGACGATGGACCGC	0.567																																						ENST00000219746.9																			0				NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.(472-474)Gtc>Atc		TOX high mobility group box family member 3		C	ILE/VAL,ILE/VAL	0,4224		0,0,2112	106	112	110		472,457	4.9	1	16		110	1,8451		0,1,4225	no	missense,missense	TOX3	NM_001080430.2,NM_001146188.1	29,29	0,1,6337	TT,TC,CC		0.0118,0.0,0.0079	benign,benign	158/577,153/572	52484395	1,12675	2112	4226	6338	SO:0001583	missense	27324				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	g.chr16:52484395C>T	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.472G>A	16.37:g.52484395C>T	ENSP00000219746:p.Val158Ile					TOX3_ENST00000407228.3_Missense_Mutation_p.V153I	p.V158I	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			4	756	-			158					B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	c.472G>A	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.656664	0.29425	0.0	1.18E-4	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.54866	0.55;0.55	5.85	4.9	0.64082	.	0.218239	0.38605	N	0.001638	T	0.43478	0.1249	L	0.37561	1.115	0.36587	D	0.873888	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.0	T	0.43637	-0.9379	10	0.25106	T	0.35	.	15.2427	0.73482	0.0:0.9324:0.0:0.0676	.	153;158	B4DRD0;O15405	.;TOX3_HUMAN	I	158;153	ENSP00000219746:V158I;ENSP00000385705:V153I	ENSP00000219746:V158I	V	-	1	0	TOX3	51041896	1.000000	0.71417	0.999000	0.59377	0.031000	0.12232	3.339000	0.52135	1.483000	0.48342	0.563000	0.77884	GTC		0.567	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		12	53	0	0	0	1	0	12	53					T	52484395	C	T	52484395	3	4	435	1	0	0	0	0	1	0	0	0	16376	536	19	1	1274	1	TOX3	16	52484395	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1309623	52484395	37870358	6915	27840											
TOX3	27324	broad.mit.edu	37	chr16	52498096	52498096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggcttggtgtgtggaatGtctgctaaaaggaaacaaaa	15	9	12	5	0	1	0	0	0	1	0	1	2	1	2	0	4	2	2	0	4	7	2	rs371907581		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:52498096G>A	ENST00000219746.9	-	3	442	c.158C>T	c.(157-159)aCa>aTa	p.T53I	TOX3_ENST00000407228.3_Splice_Site_p.T48I	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	53					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TGTGTGGAATGTCTGCTAAAA	0.463																																						ENST00000219746.9																			0				NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.(157-159)aCa>aTa		TOX high mobility group box family member 3		G	ILE/THR,ILE/THR	0,4000		0,0,2000	140	150	147		158,143	5.7	1	16		147	1,8349		0,1,4174	no	missense,missense-near-splice	TOX3	NM_001080430.2,NM_001146188.1	89,89	0,1,6174	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging	53/577,48/572	52498096	1,12349	2000	4175	6175	SO:0001583	missense	27324				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	g.chr16:52498096G>A	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.158C>T	16.37:g.52498096G>A	ENSP00000219746:p.Thr53Ile					TOX3_ENST00000407228.3_Splice_Site_p.T48_splice	p.T53I	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			3	442	-			53					B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	c.158C>T	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213476	0.79352	0.0	1.2E-4	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.51325	0.71;0.71	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.991	T	0.70981	-0.4724	10	0.87932	D	0	.	19.8609	0.96783	0.0:0.0:1.0:0.0	.	48;53	B4DRD0;O15405	.;TOX3_HUMAN	I	53;48	ENSP00000219746:T53I;ENSP00000385705:T48I	ENSP00000219746:T53I	T	-	2	0	TOX3	51055597	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	9.869000	0.99810	2.700000	0.92200	0.650000	0.86243	ACA		0.463	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		19	78	0	0	0	1	0	19	78					A	52498096	G	A	52498096	3	1	435	1	0	0	0	0	1	0	0	0	16376	1391	48	3	1592	3	TOX3	16	52498096	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13701	52498096	37856657	6916	27841											
CHD9	80205	broad.mit.edu	37	chr16	53337810	53337810	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagtctggtgggaatgtggCcctcatgatagggatttgct	7	12	14	8	0	2	1	1	1	1	0	2	3	2	3	2	4	1	1	2	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:53337810C>T	ENST00000398510.3	+	30	5979	c.5892C>T	c.(5890-5892)ggC>ggT	p.G1964G	CHD9_ENST00000564845.1_Silent_p.G1964G|CHD9_ENST00000566029.1_Silent_p.G1964G|CHD9_ENST00000447540.1_Silent_p.G1964G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1964					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GGGAATGTGGCCCTCATGATA	0.483																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(5890-5892)ggC>ggT		chromodomain helicase DNA binding protein 9							97	96	96					16																	53337810		1970	4161	6131	SO:0001819	synonymous_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53337810C>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5892C>T	16.37:g.53337810C>T						CHD9_ENST00000398510.3_Silent_p.G1964G|CHD9_ENST00000564845.1_Silent_p.G1964G|CHD9_ENST00000447540.1_Silent_p.G1964G	p.G1964G			Q3L8U1	CHD9_HUMAN			31	6101	+		all_cancers(37;0.0212)	1964					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37	c.5892C>T																																																																																					0.483	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		22	31	0	0	0	1	0	22	31					T	53337810	C	T	53337810	2	4	435	1	0	0	0	0	0	0	0	1	3332	726	26	3		3	CHD9	16	53337810	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	839714	53337810	37016943	6917	27842											
CHD9	80205	broad.mit.edu	37	chr16	53358594	53358594	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtccaatacttttgatgtAcaaaacaaaaacagtgactt	17	11	5	8	0	0	2	0	2	0	0	1	2	1	2	1	0	4	1	1	0	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:53358594A>G	ENST00000398510.3	+	38	8568	c.8481A>G	c.(8479-8481)gtA>gtG	p.V2827V	CHD9_ENST00000564845.1_Silent_p.V2811V|CHD9_ENST00000566029.1_Silent_p.V2811V|CHD9_ENST00000447540.1_Silent_p.V2812V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2827					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTTTTGATGTACAAAACAAAA	0.373																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(8431-8433)gtA>gtG		chromodomain helicase DNA binding protein 9							64	56	58					16																	53358594		1837	4088	5925	SO:0001819	synonymous_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53358594A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8481A>G	16.37:g.53358594A>G						CHD9_ENST00000398510.3_Silent_p.V2827V|CHD9_ENST00000564845.1_Silent_p.V2811V|CHD9_ENST00000447540.1_Silent_p.V2812V	p.V2811V			Q3L8U1	CHD9_HUMAN			39	8642	+		all_cancers(37;0.0212)	2827					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37	c.8433A>G																																																																																					0.373	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		5	7	0	0	0	1	0	5	7					G	53358594	A	G	53358594	2	3	435	1	0	0	0	0	0	0	0	1	3332	378	14	4		4	CHD9	16	53358594	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	20784	53358594	36996159	6918	27843											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53672318	53672318	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatcttcaggaggaggagaAgtctccttatattaatgtga	12	13	10	6	0	3	2	1	1	2	1	4	5	3	4	1	3	0	0	1	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:53672318A>C	ENST00000379925.3	-	20	3014	c.2964T>G	c.(2962-2964)acT>acG	p.T988T	RPGRIP1L_ENST00000262135.4_Intron|RPGRIP1L_ENST00000564374.1_Silent_p.T988T|RPGRIP1L_ENST00000568009.1_5'Flank|RPGRIP1L_ENST00000563746.1_Intron	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	988					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GAGGAGGAGAAGTCTCCTTAT	0.318																																						ENST00000379925.3																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(2962-2964)acT>acG		RPGRIP1-like							84	81	82					16																	53672318		2198	4298	6496	SO:0001819	synonymous_variant	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53672318A>C		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.2964T>G	16.37:g.53672318A>C						RPGRIP1L_ENST00000564374.1_Silent_p.T988T|RPGRIP1L_ENST00000563746.1_Intron|RPGRIP1L_ENST00000262135.4_Intron	p.T988T	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN			20	3014	-		all_cancers(37;0.0973)	988					A0PJ88|Q9Y2K8	Silent	SNP	ENST00000379925.3	37	c.2964T>G	CCDS32447.1																																																																																				0.318	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		14	21	0	0	0	1	0	14	21					C	53672318	A	C	53672318	2	2	435	1	0	0	0	0	0	0	0	1	13550	59	3	5		5	RPGRIP1L	16	53672318	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	313724	53672318	36682435	6919	27844											
FTO	79068	broad.mit.edu	37	chr16	53913791	53913791	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggattatattttacaacgCtgtcagttggctctgcagaa	10	15	9	7	1	2	1	1	0	1	1	2	2	2	2	0	2	3	4	0	2	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:53913791C>T	ENST00000471389.1	+	6	1233	c.1011C>T	c.(1009-1011)cgC>cgT	p.R337R	FTO_ENST00000394647.3_Silent_p.R41R	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	337					adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTTTACAACGCTGTCAGTTGG	0.408																																						ENST00000471389.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1009-1011)cgC>cgT		fat mass and obesity associated							182	169	173					16																	53913791		2198	4300	6498	SO:0001819	synonymous_variant	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53913791C>T	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"Alkylation repair homologs"	24678	protein-coding gene	gene with protein product	"AlkB homolog 9", "alpha-ketoglutarate-dependent dioxygenase"	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.1011C>T	16.37:g.53913791C>T						FTO_ENST00000394647.3_Silent_p.R41R	p.R337R	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN			6	1233	+			337					A2RUH1|B2RNS0|Q0P676|Q7Z785	Silent	SNP	ENST00000471389.1	37	c.1011C>T	CCDS32448.1																																																																																				0.408	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		32	54	0	0	0	1	0	32	54					T	53913791	C	T	53913791	2	4	435	1	0	0	0	0	0	0	0	1	6086	784	28	3		3	FTO	16	53913791	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	241473	53913791	36440962	6920	27845											
IRX3	79191	broad.mit.edu	37	chr16	54319369	54319369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgttgagccaggccttcaGcgtgctggtgctctccctgg	3	11	13	14	2	2	1	1	1	1	0	4	1	2	1	3	3	4	3	3	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:54319369G>C	ENST00000329734.3	-	2	1136	c.424C>G	c.(424-426)Ctg>Gtg	p.L142V		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	142					mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						CAGGCCTTCAGCGTGCTGGTG	0.637																																					GBM(143;1830 1866 4487 4646 37383)	ENST00000329734.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						c.(424-426)Ctg>Gtg		iroquois homeobox 3							144	108	120					16																	54319369		2198	4300	6498	SO:0001583	missense	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54319369G>C	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"Homeoboxes / TALE class"	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.424C>G	16.37:g.54319369G>C	ENSP00000331608:p.Leu142Val						p.L142V	NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN			2	1136	-			142					Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	c.424C>G	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238776	0.58995	.	.	ENSG00000177508	ENST00000329734	D	0.95949	-3.86	4.14	4.14	0.48551	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.64402	D	0.000003	D	0.97679	0.9239	M	0.87682	2.9	0.52099	D	0.999944	D	0.69078	0.997	D	0.79108	0.992	D	0.98385	1.0560	10	0.87932	D	0	-11.9013	13.9388	0.64041	0.0:0.0:1.0:0.0	.	142	P78415	IRX3_HUMAN	V	142	ENSP00000331608:L142V	ENSP00000331608:L142V	L	-	1	2	IRX3	52876870	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.317000	0.59184	2.123000	0.65237	0.563000	0.77884	CTG		0.637	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			18	22	0	0	0	1	0	18	22					C	54319369	G	C	54319369	3	2	435	1	0	0	0	0	1	0	0	0	7845	962	34	5	1093	5	IRX3	16	54319369	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	405578	54319369	36035384	6921	27846											
LPCAT2	54947	broad.mit.edu	37	chr16	55559532	55559532	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgctgtcctgaaaagcTgacccacccaataactggtt	12	10	8	11	0	0	2	0	2	0	0	1	2	1	2	3	1	3	4	3	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:55559532T>C	ENST00000262134.5	+	2	468	c.284T>C	c.(283-285)cTg>cCg	p.L95P		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	95					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CCTGAAAAGCTGACCCACCCA	0.338																																						ENST00000262134.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						c.(283-285)cTg>cCg		lysophosphatidylcholine acyltransferase 2							92	85	87					16																	55559532		2198	4300	6498	SO:0001583	missense	54947				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	g.chr16:55559532T>C	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"EF-hand domain containing"	26032	protein-coding gene	gene with protein product		612040	"acyltransferase like 1"	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.284T>C	16.37:g.55559532T>C	ENSP00000262134:p.Leu95Pro						p.L95P	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN			2	468	+			95					A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	c.284T>C	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	T	9.926	1.213485	0.22289	.	.	ENSG00000087253	ENST00000262134	T	0.26810	1.71	5.31	-0.949	0.10376	.	0.604873	0.17141	N	0.185428	T	0.11580	0.0282	L	0.27053	0.805	0.47341	D	0.999396	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	10	0.22706	T	0.39	-1.1844	0.756	0.00999	0.2324:0.2618:0.1197:0.3861	.	95	Q7L5N7	PCAT2_HUMAN	P	95	ENSP00000262134:L95P	ENSP00000262134:L95P	L	+	2	0	LPCAT2	54117033	0.046000	0.20272	0.995000	0.50966	0.912000	0.54170	-0.533000	0.06157	-0.143000	0.11334	-0.301000	0.09380	CTG		0.338	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		11	53	0	0	0	1	0	11	53					C	55559532	T	C	55559532	3	2	435	1	0	0	0	0	1	0	0	0	8911	1580	55	4	290	4	LPCAT2	16	55559532	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1240163	55559532	34795221	6922	27847											
SLC6A2	6530	broad.mit.edu	37	chr16	55705966	55705966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctcaacctgccctggaccGactgtggccacacctggaac	8	6	9	18	1	1	0	1	0	0	0	1	3	1	2	6	3	3	0	6	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:55705966G>A	ENST00000379906.2	+	3	778	c.523G>A	c.(523-525)Gac>Aac	p.D175N	SLC6A2_ENST00000566163.1_Missense_Mutation_p.D175N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.D175N|SLC6A2_ENST00000568943.1_Missense_Mutation_p.D175N|SLC6A2_ENST00000567238.1_Missense_Mutation_p.D70N|SLC6A2_ENST00000561820.1_Missense_Mutation_p.D175N|SLC6A2_ENST00000414754.3_Missense_Mutation_p.D175N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	175					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GCCCTGGACCGACTGTGGCCA	0.557																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(523-525)Gac>Aac		solute carrier family 6 (neurotransmitter transporter), member 2	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)						178	119	139					16																	55705966		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55705966G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.523G>A	16.37:g.55705966G>A	ENSP00000369237:p.Asp175Asn					SLC6A2_ENST00000568943.1_Missense_Mutation_p.D175N|SLC6A2_ENST00000566163.1_Missense_Mutation_p.D175N|SLC6A2_ENST00000567238.1_Missense_Mutation_p.D70N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.D175N|SLC6A2_ENST00000414754.3_Missense_Mutation_p.D175N|SLC6A2_ENST00000561820.1_Missense_Mutation_p.D175N	p.D175N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	3	778	+			175					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.523G>A	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850556	0.32699	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	T;T;T	0.74209	-0.82;-0.82;-0.82	5.8	-0.102	0.13613	.	0.501714	0.24098	N	0.041565	T	0.46619	0.1402	N	0.05414	-0.055	0.20307	N	0.999911	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.28996	-1.0026	10	0.11485	T	0.65	.	8.6541	0.34053	0.7327:0.0:0.2673:0.0	.	175;70;175	Q96KH8;B4DX48;P23975	.;.;SC6A2_HUMAN	N	175	ENSP00000394956:D175N;ENSP00000369237:D175N;ENSP00000219833:D175N	ENSP00000219833:D175N	D	+	1	0	SLC6A2	54263467	0.314000	0.24563	0.158000	0.22627	0.980000	0.70556	0.975000	0.29449	0.094000	0.17404	-0.145000	0.13849	GAC		0.557	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			16	22	0	0	0	1	0	16	22					A	55705966	G	A	55705966	3	1	435	1	0	0	0	0	1	0	0	0	14683	1058	37	2	624	2	SLC6A2	16	55705966	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	146434	55705966	34648787	6923	27848											
SLC6A2	6530	broad.mit.edu	37	chr16	55727937	55727937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggtatggattgatgccGcaactcagatatttttttcc	9	16	8	8	1	2	2	2	1	0	1	3	3	3	3	2	2	2	2	2	2	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:55727937G>A	ENST00000379906.2	+	6	1189	c.934G>A	c.(934-936)Gca>Aca	p.A312T	SLC6A2_ENST00000566163.1_Missense_Mutation_p.A267T|SLC6A2_ENST00000219833.8_Missense_Mutation_p.A312T|SLC6A2_ENST00000568943.1_Missense_Mutation_p.A312T|SLC6A2_ENST00000567238.1_Missense_Mutation_p.A207T|SLC6A2_ENST00000561820.1_Missense_Mutation_p.A312T|SLC6A2_ENST00000414754.3_Missense_Mutation_p.A312T	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	312					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GATTGATGCCGCAACTCAGAT	0.453																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(934-936)Gca>Aca		solute carrier family 6 (neurotransmitter transporter), member 2	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)						148	142	144					16																	55727937		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55727937G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.934G>A	16.37:g.55727937G>A	ENSP00000369237:p.Ala312Thr					SLC6A2_ENST00000568943.1_Missense_Mutation_p.A312T|SLC6A2_ENST00000566163.1_Missense_Mutation_p.A267T|SLC6A2_ENST00000567238.1_Missense_Mutation_p.A207T|SLC6A2_ENST00000219833.8_Missense_Mutation_p.A312T|SLC6A2_ENST00000414754.3_Missense_Mutation_p.A312T|SLC6A2_ENST00000561820.1_Missense_Mutation_p.A312T	p.A312T	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	6	1189	+			312					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.934G>A	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474824	0.43942	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.75938	-0.98;-0.98;-0.98	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.88418	0.6431	M	0.88031	2.925	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.996	D	0.91031	0.4864	10	0.87932	D	0	.	17.3376	0.87286	0.0:0.0:1.0:0.0	.	312;26;207;312	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	T	312;26;312;312	ENSP00000394956:A312T;ENSP00000369237:A312T;ENSP00000219833:A312T	ENSP00000219833:A312T	A	+	1	0	SLC6A2	54285438	1.000000	0.71417	0.999000	0.59377	0.930000	0.56654	9.501000	0.97979	2.196000	0.70406	0.561000	0.74099	GCA		0.453	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			33	49	0	0	0	1	0	33	49					A	55727937	G	A	55727937	3	1	435	1	0	0	0	0	1	0	0	0	14683	1087	38	1	1047	1	SLC6A2	16	55727937	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	21971	55727937	34626816	6924	27849											
SLC6A2	6530	broad.mit.edu	37	chr16	55729233	55729233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactgtatcaccagcttcGtctctgggttcgccatcttc	6	14	7	14	2	4	0	2	0	2	0	8	0	4	0	2	1	2	3	2	1	2	4	rs5565		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:55729233G>A	ENST00000379906.2	+	7	1321	c.1066G>A	c.(1066-1068)Gtc>Atc	p.V356I	SLC6A2_ENST00000566163.1_Missense_Mutation_p.V311I|SLC6A2_ENST00000219833.8_Missense_Mutation_p.V356I|SLC6A2_ENST00000568943.1_Missense_Mutation_p.V356I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V251I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.V356I|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V356I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	356			V -> L (in dbSNP:rs5565).		monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CACCAGCTTCGTCTCTGGGTT	0.552																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1066-1068)Gtc>Atc		solute carrier family 6 (neurotransmitter transporter), member 2	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)	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4396		0,0,2198	191	130	150		1066,1066,751,1066	-1	1	16	dbSNP_52	150	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SLC6A2	NM_001043.3,NM_001172501.1,NM_001172502.1,NM_001172504.1	29,29,29,29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	356/618,356/618,251/513,356/629	55729233	1,12995	2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55729233G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1066G>A	16.37:g.55729233G>A	ENSP00000369237:p.Val356Ile					SLC6A2_ENST00000568943.1_Missense_Mutation_p.V356I|SLC6A2_ENST00000566163.1_Missense_Mutation_p.V311I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V251I|SLC6A2_ENST00000219833.8_Missense_Mutation_p.V356I|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V356I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.V356I	p.V356I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	7	1321	+			356		V -> L (in dbSNP:rs5565).			B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.1066G>A	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	8.488	0.861445	0.17178	0.0	1.16E-4	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.74106	-0.81;-0.81;-0.81	4.64	-1.01	0.10169	.	0.316280	0.37955	N	0.001865	T	0.41419	0.1158	N	0.03084	-0.415	0.22500	N	0.999048	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.001	T	0.23619	-1.0183	10	0.17369	T	0.5	.	4.7385	0.13001	0.6343:0.0:0.2322:0.1335	.	356;70;251;356	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	I	356;70;356;356	ENSP00000394956:V356I;ENSP00000369237:V356I;ENSP00000219833:V356I	ENSP00000219833:V356I	V	+	1	0	SLC6A2	54286734	0.978000	0.34361	0.984000	0.44739	0.865000	0.49528	0.201000	0.17276	-0.402000	0.07633	-0.157000	0.13467	GTC		0.552	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			34	32	0	0	0	1	0	34	32					A	55729233	G	A	55729233	3	1	435	1	0	0	0	0	1	0	0	0	14683	1145	40	1	1183	1	SLC6A2	16	55729233	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1296	55729233	34625520	6925	27850											
SLC6A2	6530	broad.mit.edu	37	chr16	55735848	55735848	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatcagacagttccaggTgggtgaagcctagacccctg	10	7	13	11	0	1	3	1	1	0	2	2	4	2	4	4	3	1	1	4	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:55735848T>C	ENST00000379906.2	+	13	2085		c.e13+2		SLC6A2_ENST00000566163.1_Splice_Site|SLC6A2_ENST00000219833.8_Splice_Site|SLC6A2_ENST00000568943.1_Splice_Site|SLC6A2_ENST00000567238.1_Splice_Site|SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000414754.3_Splice_Site	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2						monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CAGTTCCAGGTGGGTGAAGCC	0.592											OREG0023807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.e13+2		solute carrier family 6 (neurotransmitter transporter), member 2	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)						75	74	74					16																	55735848		2198	4300	6498	SO:0001630	splice_region_variant	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55735848T>C		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1830+2T>C	16.37:g.55735848T>C			OREG0023807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1010	SLC6A2_ENST00000568943.1_Splice_Site|SLC6A2_ENST00000566163.1_Splice_Site|SLC6A2_ENST00000567238.1_Splice_Site|SLC6A2_ENST00000219833.8_Splice_Site|SLC6A2_ENST00000414754.3_Splice_Site|SLC6A2_ENST00000561820.1_Intron		NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	13	2085	+								B2R707|B4DX48|Q96KH8	Splice_Site	SNP	ENST00000379906.2	37		CCDS10754.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.865779	0.51588	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7726	0.63036	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A2	54293349	1.000000	0.71417	0.933000	0.37362	0.508000	0.34012	7.313000	0.78978	1.902000	0.55061	0.528000	0.53228	.		0.592	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2		Intron	16	12	0	0	0	1	0	16	12					C	55735848	T	C	55735848	5	2	435	1	0	0	0	0	0	0	1	0	14683	1710	59	4	1973	4	SLC6A2	16	55735848	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	6615	55735848	34618905	6926	27851											
CES1	1066	broad.mit.edu	37	chr16	55862745	55862745	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctgcggtggagtaaacCtcaggggtccaagaggcggc	9	5	17	10	2	1	1	1	0	0	1	2	2	2	2	2	7	2	2	2	7	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:55862745C>A	ENST00000361503.4	-	2	321	c.191G>T	c.(190-192)aGg>aTg	p.R64M	CES1_ENST00000360526.3_Missense_Mutation_p.R65M|CES1_ENST00000422046.2_Missense_Mutation_p.R64M|CES1_ENST00000566555.1_5'Flank			P23141	EST1_HUMAN	carboxylesterase 1	64				R -> G (in Ref. 18; CAA37147). {ECO:0000305}.	epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	TGGAGTAAACCTCAGGGGTCC	0.542																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(190-192)aGg>aTg		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						102	99	100					16																	55862745		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55862745C>A	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.191G>T	16.37:g.55862745C>A	ENSP00000355193:p.Arg64Met					CES1_ENST00000360526.3_Missense_Mutation_p.R65M|CES1_ENST00000361503.4_Missense_Mutation_p.R64M	p.R64M			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	2	472	-			64	R -> G (in Ref. 18; CAA37147).				A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.191G>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	16.88	3.244866	0.59103	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	T;T;T	0.38887	1.24;1.24;1.11	4.48	4.48	0.54585	Carboxylesterase, type B (1);	0.000000	0.53938	D	0.000055	T	0.80160	0.4572	H	0.99712	4.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89201	0.3557	10	0.87932	D	0	.	14.6933	0.69101	0.0:1.0:0.0:0.0	.	64;64;65	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	M	65;64;64	ENSP00000353720:R65M;ENSP00000355193:R64M;ENSP00000390492:R64M	ENSP00000353720:R65M	R	-	2	0	CES1	54420246	1.000000	0.71417	0.997000	0.53966	0.241000	0.25554	7.094000	0.76944	2.051000	0.60960	0.393000	0.25936	AGG		0.542	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		5	15	1	0	0.00116845	1	0.0011864	5	15					A	55862745	C	A	55862745	3	1	435	1	0	0	0	0	1	0	0	0	3269	681	24	5	1564	5	CES1	16	55862745	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	126897	55862745	34492008	6927	27852											
CES7	221223	broad.mit.edu	37	chr16	55880483	55880483	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgctggtccaaaaatcCacccgcggttctttgagtct	8	12	10	11	2	2	1	0	1	2	0	4	1	4	1	3	3	1	2	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:55880483C>A	ENST00000290567.9	-	13	1729	c.1608G>T	c.(1606-1608)gtG>gtT	p.V536V	CES5A_ENST00000518005.1_Silent_p.V430V|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Silent_p.V486V|CES5A_ENST00000520435.1_Silent_p.V506V|CES5A_ENST00000521992.1_Silent_p.V565V	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	536						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCCAAAAATCCACCCGCGGTT	0.532																																						ENST00000521992.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(1693-1695)gtG>gtT		carboxylesterase 5A							212	208	209					16																	55880483		2198	4300	6498	SO:0001819	synonymous_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55880483C>A	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1608G>T	16.37:g.55880483C>A						CES5A_ENST00000290567.9_Silent_p.V536V|CES5A_ENST00000520435.1_Silent_p.V506V|CES5A_ENST00000518005.1_Silent_p.V430V|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Silent_p.V486V	p.V565V	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN			14	1840	-			536					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	c.1695G>T	CCDS45490.1																																																																																				0.532	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		71	128	1	0	2.69673e-31	1	3.02383e-31	71	128					A	55880483	C	A	55880483	2	1	435	1	0	0	0	0	0	0	0	1	3272	581	21	5		5	CES7	16	55880483	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17738	55880483	34474270	6928	27853											
CES7	221223	broad.mit.edu	37	chr16	55903572	55903572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacgaccacaaccagcaCgtcctcataggcagccaggg	11	4	11	15	2	1	0	1	0	0	0	2	2	2	1	4	3	3	2	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:55903572C>T	ENST00000290567.9	-	4	623	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	CES5A_ENST00000518005.1_Missense_Mutation_p.V62M|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000319165.9_Missense_Mutation_p.V168M|CES5A_ENST00000520435.1_Missense_Mutation_p.V138M|CES5A_ENST00000521992.1_Missense_Mutation_p.V197M	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	168						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACAACCAGCACGTCCTCATAG	0.562																																						ENST00000521992.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(589-591)Gtg>Atg		carboxylesterase 5A							75	56	62					16																	55903572		2198	4300	6498	SO:0001583	missense	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55903572C>T	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.502G>A	16.37:g.55903572C>T	ENSP00000290567:p.Val168Met					CES5A_ENST00000290567.9_Missense_Mutation_p.V168M|CES5A_ENST00000520435.1_Missense_Mutation_p.V138M|CES5A_ENST00000518005.1_Missense_Mutation_p.V62M|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000319165.9_Missense_Mutation_p.V168M	p.V197M	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN			5	734	-			168					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	c.589G>A	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066097	0.36470	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000536025	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	4.51	2.55	0.30701	Carboxylesterase, type B (1);	0.200713	0.31976	N	0.006774	D	0.87815	0.6272	M	0.89163	3.01	0.42923	D	0.994297	D;D	0.89917	0.992;1.0	P;D	0.83275	0.617;0.996	D	0.87519	0.2445	10	0.72032	D	0.01	.	9.3924	0.38381	0.0:0.8185:0.0:0.1815	.	168;168	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	M	197;168;62;168;138;62	ENSP00000428864:V197M;ENSP00000324271:V168M;ENSP00000428571:V62M;ENSP00000290567:V168M;ENSP00000428887:V138M;ENSP00000439810:V62M	ENSP00000290567:V168M	V	-	1	0	CES5A	54461073	0.231000	0.23751	0.865000	0.33974	0.026000	0.11368	0.801000	0.27055	0.610000	0.30035	-0.226000	0.12346	GTG		0.562	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		7	40	0	0	0	1	0	7	40					T	55903572	C	T	55903572	3	4	435	1	0	0	0	0	1	0	0	0	3272	536	19	1	1265	1	CES7	16	55903572	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	23089	55903572	34451181	6929	27854											
BBS2	583	broad.mit.edu	37	chr16	56536302	56536302	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcagctctcggatcaggTcctgctctgcactggtgtcc	5	11	11	14	1	4	0	2	0	2	0	7	2	6	1	2	3	3	3	2	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:56536302T>A	ENST00000245157.5	-	9	1427	c.1007A>T	c.(1006-1008)gAc>gTc	p.D336V	BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Missense_Mutation_p.D336V	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	336					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TCGGATCAGGTCCTGCTCTGC	0.527									Bardet-Biedl syndrome																													ENST00000245157.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						c.(1006-1008)gAc>gTc		Bardet-Biedl syndrome 2							155	140	145					16																	56536302		2198	4300	6498	SO:0001583	missense	583	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	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	g.chr16:56536302T>A	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1007A>T	16.37:g.56536302T>A	ENSP00000245157:p.Asp336Val					BBS2_ENST00000568104.1_Missense_Mutation_p.D336V|BBS2_ENST00000561951.1_5'UTR	p.D336V	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN			9	1427	-			336					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.1007A>T	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.522396	0.85600	.	.	ENSG00000125124	ENST00000245157	D	0.91124	-2.79	5.92	4.81	0.61882	.	0.266798	0.47455	D	0.000230	D	0.93812	0.8021	M	0.76574	2.34	0.80722	D	1	D	0.56287	0.975	P	0.61397	0.888	D	0.93312	0.6685	10	0.54805	T	0.06	-11.0785	12.2324	0.54495	0.0:0.067:0.0:0.933	.	336	Q9BXC9	BBS2_HUMAN	V	336	ENSP00000245157:D336V	ENSP00000245157:D336V	D	-	2	0	BBS2	55093803	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.155000	0.71833	1.027000	0.39758	0.459000	0.35465	GAC		0.527	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		38	46	0	0	0	1	0	38	46					A	56536302	T	A	56536302	3	1	435	1	0	0	0	0	1	0	0	0	1338	1667	58	5	1194	5	BBS2	16	56536302	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	632730	56536302	33818451	6930	27855											
MT1A	4489	broad.mit.edu	37	chr16	56672671	56672671	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggaccccaactgctcctgCgccactggtaagggatgcta	9	8	11	13	1	0	0	0	0	0	0	1	2	1	2	4	3	4	3	4	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:56672671C>T	ENST00000290705.8	+	1	94	c.21C>T	c.(19-21)tgC>tgT	p.C7C	MT1JP_ENST00000564564.1_RNA	NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN	metallothionein 1A	7	Beta.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)	3					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACTGCTCCTGCGCCACTGGTA	0.542																																						ENST00000290705.8																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(19-21)tgC>tgT		metallothionein 1A							128	112	117					16																	56672671		2198	4300	6498	SO:0001819	synonymous_variant	4489					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding	g.chr16:56672671C>T	BC029475	CCDS32454.1	16q13	2012-10-02	2007-03-02			ENSG00000205362		"Metallothioneins"	7393	protein-coding gene	gene with protein product		156350	"metallothionein 1S"	MT1, MT1S		6089206, 6327055	Standard	NM_005946		Approved		uc002ejq.3	P04731		ENST00000290705.8:c.21C>T	16.37:g.56672671C>T							p.C7C	NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN			1	94	+			7			Beta.		Q86YX5	Silent	SNP	ENST00000290705.8	37	c.21C>T	CCDS32454.1																																																																																				0.542	MT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434324.1	NM_005946		40	55	0	0	0	1	0	40	55					T	56672671	C	T	56672671	2	4	435	1	0	0	0	0	0	0	0	1	9897	776	27	1		1	MT1A	16	56672671	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	136369	56672671	33682082	6931	27856											
CETP	1071	broad.mit.edu	37	chr16	56996954	56996954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaaggtgatccagaccGccttccagcgagccagctac	9	6	10	16	2	0	2	0	1	0	1	2	3	2	2	6	1	5	1	6	1	2	2	rs549487844		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:56996954G>A	ENST00000200676.3	+	2	281	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	CETP_ENST00000379780.2_Missense_Mutation_p.A51T|CETP_ENST00000566128.1_5'UTR|CETP_ENST00000569082.1_3'UTR	NM_000078.2	NP_000069.2			cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GATCCAGACCGCCTTCCAGCG	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		19700	0		0	False		,,,				2504	0					ENST00000200676.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.(151-153)Gcc>Acc		cholesteryl ester transfer protein, plasma							97	72	80					16																	56996954		2198	4300	6498	SO:0001583	missense	1071				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	g.chr16:56996954G>A	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"BPI fold containing"	1869	protein-coding gene	gene with protein product	"BPI fold containing family F"	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000200676.3:c.151G>A	16.37:g.56996954G>A	ENSP00000200676:p.Ala51Thr					CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Missense_Mutation_p.A51T|CETP_ENST00000566128.1_5'UTR	p.A51T	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN			2	281	+			51						Missense_Mutation	SNP	ENST00000200676.3	37	c.151G>A	CCDS10772.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634028	0.47049	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.05996	3.36;3.36	4.68	4.68	0.58851	Lipid-binding serum glycoprotein, conserved site (1);Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.138996	0.47852	U	0.000208	T	0.09069	0.0224	L	0.34521	1.04	0.80722	D	1	D;P	0.67145	0.996;0.936	P;B	0.48921	0.595;0.309	T	0.16100	-1.0414	10	0.45353	T	0.12	-17.9904	14.3079	0.66395	0.0:0.0:1.0:0.0	.	51;51	P11597-2;P11597	.;CETP_HUMAN	T	51	ENSP00000200676:A51T;ENSP00000369106:A51T	ENSP00000200676:A51T	A	+	1	0	CETP	55554455	0.970000	0.33590	0.067000	0.19924	0.028000	0.11728	6.237000	0.72345	2.125000	0.65367	0.591000	0.81541	GCC		0.622	CETP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257059.1	NM_000078		12	13	0	0	0	1	0	12	13					A	56996954	G	A	56996954	3	1	435	1	0	0	0	0	1	0	0	0	3277	1087	38	1	157	1	CETP	16	56996954	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	324283	56996954	33357799	6932	27857											
CETP	1071	broad.mit.edu	37	chr16	57003379	57003379	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgatgtctccattcagaaCgtgtctgtggtcttcaaggg	8	14	11	8	1	5	2	2	1	3	1	6	2	5	2	1	2	1	0	1	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57003379C>T	ENST00000566128.1	+	3	387	c.120C>T	c.(118-120)aaC>aaT	p.N40N	CETP_ENST00000379780.2_Silent_p.N105N|CETP_ENST00000569082.1_3'UTR|CETP_ENST00000200676.3_Silent_p.N105N					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CCATTCAGAACGTGTCTGTGG	0.567																																						ENST00000200676.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.(313-315)aaC>aaT		cholesteryl ester transfer protein, plasma							200	178	186					16																	57003379		2198	4300	6498	SO:0001819	synonymous_variant	1071				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	g.chr16:57003379C>T	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"BPI fold containing"	1869	protein-coding gene	gene with protein product	"BPI fold containing family F"	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.120C>T	16.37:g.57003379C>T						CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Silent_p.N105N|CETP_ENST00000566128.1_Silent_p.N40N	p.N105N	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN			3	445	+			105						Silent	SNP	ENST00000566128.1	37	c.315C>T																																																																																					0.567	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		29	46	0	0	0	1	0	29	46					T	57003379	C	T	57003379	2	4	435	1	0	0	0	0	0	0	0	1	3277	535	19	1		1	CETP	16	57003379	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6425	57003379	33351374	6933	27858											
NLRC5	84166	broad.mit.edu	37	chr16	57092918	57092918	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatttctcaggaaagtgccCtgtacctgctggagacactg	9	10	11	11	0	1	1	1	0	1	1	2	3	1	2	2	2	3	3	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57092918C>A	ENST00000262510.6	+	29	4090	c.3865C>A	c.(3865-3867)Ctg>Atg	p.L1289M	NLRC5_ENST00000539144.1_Missense_Mutation_p.L1260M|NLRC5_ENST00000308149.7_Missense_Mutation_p.L1260M|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000436936.1_Missense_Mutation_p.L1289M	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1289					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			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)				GGAAAGTGCCCTGTACCTGCT	0.587																																						ENST00000436936.1																			0				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						c.(3865-3867)Ctg>Atg		NLR family, CARD domain containing 5							261	236	244					16																	57092918		2198	4300	6498	SO:0001583	missense	84166				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	g.chr16:57092918C>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3865C>A	16.37:g.57092918C>A	ENSP00000262510:p.Leu1289Met					NLRC5_ENST00000262510.6_Missense_Mutation_p.L1289M|NLRC5_ENST00000539144.1_Missense_Mutation_p.L1260M|NLRC5_ENST00000308149.7_Missense_Mutation_p.L1260M	p.L1289M			Q86WI3	NLRC5_HUMAN			29	4090	+		all_neural(199;0.225)	1289					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.3865C>A	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	2.321|2.321	-0.355564|-0.355564	0.05138|0.05138	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110|ENST00000538805;ENST00000399221	T;T;T;T;T|.	0.54479|.	0.57;5.39;0.57;5.39;0.57|.	4.64|4.64	2.57|2.57	0.30868|0.30868	.|.	.|.	.|.	.|.	.|.	T|T	0.43722|0.43722	0.1260|0.1260	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	P;P;B;B|.	0.47253|.	0.892;0.849;0.158;0.082|.	P;P;B;B|.	0.47430|.	0.547;0.542;0.074;0.054|.	T|T	0.32025|0.32025	-0.9922|-0.9922	9|5	0.46703|.	T|.	0.11|.	.|.	5.788|5.788	0.18345|0.18345	0.1895:0.7091:0.0:0.1013|0.1895:0.7091:0.0:0.1013	.|.	973;1260;1289;1289|.	Q9H6Y0;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	M|H	1289;1260;1289;732;1260;765|1040;40	ENSP00000262510:L1289M;ENSP00000308886:L1260M;ENSP00000389739:L1289M;ENSP00000441727:L1260M;ENSP00000441597:L765M|.	ENSP00000262510:L1289M|.	L|P	+|+	1|2	2|0	NLRC5|NLRC5	55650419|55650419	0.005000|0.005000	0.15991|0.15991	0.233000|0.233000	0.24025|0.24025	0.041000|0.041000	0.13682|0.13682	0.064000|0.064000	0.14437|0.14437	1.177000|1.177000	0.42855|0.42855	0.544000|0.544000	0.68410|0.68410	CTG|CCT		0.587	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		56	92	1	0	2.69953e-25	1	3.01344e-25	56	92					A	57092918	C	A	57092918	3	1	435	1	0	0	0	0	1	0	0	0	10470	680	24	5	3971	5	NLRC5	16	57092918	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	89539	57092918	33261835	6934	27859											
RSPRY1	89970	broad.mit.edu	37	chr16	57265194	57265194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcacttttaatgactacGccttcctaacagctgaagaa	13	12	6	10	1	0	3	0	2	0	1	1	3	1	3	2	0	4	2	2	0	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57265194G>A	ENST00000537866.1	+	13	2365	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	RSPRY1_ENST00000394420.4_Missense_Mutation_p.A498T|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	498						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TAATGACTACGCCTTCCTAAC	0.358																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(1492-1494)Gcc>Acc		ring finger and SPRY domain containing 1							104	99	100					16																	57265194		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57265194G>A	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"RING-type (C3HC4) zinc fingers"	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1492G>A	16.37:g.57265194G>A	ENSP00000443176:p.Ala498Thr					RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Missense_Mutation_p.A498T	p.A498T			Q96DX4	RSPRY_HUMAN			13	2365	+			498					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.1492G>A	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	36	5.710805	0.96821	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.86497	-2.13;-2.13	5.78	5.78	0.91487	.	0.046947	0.85682	D	0.000000	D	0.93223	0.7841	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.92714	0.6185	10	0.54805	T	0.06	.	20.0175	0.97485	0.0:0.0:1.0:0.0	.	498	Q96DX4	RSPRY_HUMAN	T	498	ENSP00000377942:A498T;ENSP00000443176:A498T	ENSP00000377942:A498T	A	+	1	0	RSPRY1	55822695	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.444000	0.97578	2.730000	0.93505	0.650000	0.86243	GCC		0.358	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		19	39	0	0	0	1	0	19	39					A	57265194	G	A	57265194	3	1	435	1	0	0	0	0	1	0	0	0	13713	1087	38	1	1538	1	RSPRY1	16	57265194	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	172276	57265194	33089559	6935	27860											
CX3CL1	6376	broad.mit.edu	37	chr16	57413554	57413554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaactcaggacagcacCacggtgtgacgaaatgcaac	13	7	10	11	2	1	2	1	2	0	0	1	4	1	3	1	2	4	2	1	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57413554C>A	ENST00000006053.6	+	2	190	c.79C>A	c.(79-81)Cac>Aac	p.H27N	CX3CL1_ENST00000563383.1_Missense_Mutation_p.H33N|CX3CL1_ENST00000565912.1_5'UTR|CX3CL1_ENST00000564948.1_Intron	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	27	Chemokine.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGGACAGCACCACGGTGTGAC	0.537																																						ENST00000006053.6																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(79-81)Cac>Aac		chemokine (C-X3-C motif) ligand 1							144	103	117					16																	57413554		2198	4300	6498	SO:0001583	missense	6376				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	g.chr16:57413554C>A	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"Endogenous ligands"	10647	protein-coding gene	gene with protein product		601880	"small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.79C>A	16.37:g.57413554C>A	ENSP00000006053:p.His27Asn					CX3CL1_ENST00000565912.1_5'UTR|CX3CL1_ENST00000564948.1_Intron|CX3CL1_ENST00000563383.1_Missense_Mutation_p.H33N	p.H27N	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN			2	190	+			27			Chemokine.		O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.79C>A	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	C	6.038	0.375285	0.11409	.	.	ENSG00000006210	ENST00000006053	T	0.13538	2.58	3.26	2.31	0.28768	Chemokine interleukin-8-like domain (1);	2.705570	0.02415	N	0.082059	T	0.10252	0.0251	N	0.24115	0.695	0.20926	N	0.999825	B	0.33073	0.396	B	0.23574	0.047	T	0.25779	-1.0122	10	0.87932	D	0	-11.9967	6.5199	0.22269	0.0:0.8674:0.0:0.1326	.	27	P78423	X3CL1_HUMAN	N	27	ENSP00000006053:H27N	ENSP00000006053:H27N	H	+	1	0	CX3CL1	55971055	0.002000	0.14202	0.046000	0.18839	0.137000	0.21094	0.966000	0.29331	0.969000	0.38237	0.456000	0.33151	CAC		0.537	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		11	21	1	0	4.68919e-08	1	4.93693e-08	11	21					A	57413554	C	A	57413554	3	1	435	1	0	0	0	0	1	0	0	0	4074	594	21	5	85	5	CX3CL1	16	57413554	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	148360	57413554	32941199	6936	27861											
GPR97	222487	broad.mit.edu	37	chr16	57719789	57719789	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggttggccatcttcaccccGttgggcctctccaccgtcta	4	11	10	16	2	4	0	1	0	3	0	5	0	4	0	6	3	0	2	6	3	1	4	rs150564489		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57719789G>A	ENST00000333493.4	+	11	1652	c.1491G>A	c.(1489-1491)ccG>ccA	p.P497P	GPR97_ENST00000450388.3_Silent_p.P377P|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_Silent_p.P287P	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	497					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P497P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCTTCACCCCGTTGGGCCTCT	0.612													g|||	1	0.000199681	0	0	5008	,	,		19338	0		0.001	False		,,,				2504	0					ENST00000333493.4																			1	Substitution - coding silent(1)	p.P497P(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1489-1491)ccG>ccA		G protein-coupled receptor 97		G		1,4395	2.1+/-5.4	0,1,2197	109	95	100		1491	-11.2	0.1	16	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous	GPR97	NM_170776.4		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		497/550	57719789	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57719789G>A	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1491G>A	16.37:g.57719789G>A						GPR97_ENST00000450388.3_Silent_p.P377P|GPR97_ENST00000327655.6_Silent_p.P287P|RP11-405F3.4_ENST00000563062.1_RNA	p.P497P	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN			11	1652	+			497					Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	c.1491G>A	CCDS10786.1																																																																																				0.612	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		22	41	0	0	0	1	0	22	41					A	57719789	G	A	57719789	2	1	435	1	0	0	0	0	0	0	0	1	6720	1132	40	1		1	GPR97	16	57719789	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	306235	57719789	32634964	6937	27862											
CCDC135	84229	broad.mit.edu	37	chr16	57741447	57741447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttgtgctatcggggaagCgcgaggtgcctgagaacttc	7	10	14	10	3	0	1	0	1	0	1	3	4	1	2	2	3	4	1	2	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57741447C>T	ENST00000360716.3	+	8	1155	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	CCDC135_ENST00000394337.4_Missense_Mutation_p.R312C|CCDC135_ENST00000336825.8_Missense_Mutation_p.R247C			Q8IY82	CC135_HUMAN		312					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ATCGGGGAAGCGCGAGGTGCC	0.587																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(934-936)Cgc>Tgc		coiled-coil domain containing 135							75	70	71					16																	57741447		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57741447C>T																												ENST00000360716.3:c.934C>T	16.37:g.57741447C>T	ENSP00000353942:p.Arg312Cys					CCDC135_ENST00000336825.8_Missense_Mutation_p.R247C|CCDC135_ENST00000394337.4_Missense_Mutation_p.R312C	p.R312C			Q8IY82	CC135_HUMAN			8	1155	+			312					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.934C>T	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	.	20.5	3.996779	0.74818	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.80214	-1.35;-1.35;-1.35	5.03	5.03	0.67393	.	0.121317	0.53938	D	0.000041	D	0.90202	0.6937	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91656	0.5338	10	0.87932	D	0	-17.572	13.0344	0.58862	0.1719:0.8281:0.0:0.0	.	247;312	Q8IY82-2;Q8IY82	.;CC135_HUMAN	C	312;247;312	ENSP00000377869:R312C;ENSP00000338938:R247C;ENSP00000353942:R312C	ENSP00000338938:R247C	R	+	1	0	CCDC135	56298948	1.000000	0.71417	0.995000	0.50966	0.854000	0.48673	2.886000	0.48578	2.332000	0.79248	0.637000	0.83480	CGC		0.587	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			9	14	0	0	0	1	0	9	14					T	57741447	C	T	57741447	3	4	435	1	0	0	0	0	1	0	0	0	2769	768	27	1	956	1	CCDC135	16	57741447	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21658	57741447	32613306	6938	27863											
CCDC135	84229	broad.mit.edu	37	chr16	57760065	57760065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttctggtcgcggaggagcGcatccagctgcgctaccact	6	9	13	13	4	1	0	0	0	1	0	3	2	2	2	2	3	4	4	2	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57760065G>A	ENST00000360716.3	+	14	2065	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H	CCDC135_ENST00000394337.4_Missense_Mutation_p.R615H|CCDC135_ENST00000336825.8_Missense_Mutation_p.R550H			Q8IY82	CC135_HUMAN		615					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GCGGAGGAGCGCATCCAGCTG	0.632																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1843-1845)cGc>cAc		coiled-coil domain containing 135							61	53	56					16																	57760065		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57760065G>A																												ENST00000360716.3:c.1844G>A	16.37:g.57760065G>A	ENSP00000353942:p.Arg615His					CCDC135_ENST00000336825.8_Missense_Mutation_p.R550H|CCDC135_ENST00000394337.4_Missense_Mutation_p.R615H	p.R615H			Q8IY82	CC135_HUMAN			14	2065	+			615					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.1844G>A	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	g	18.56	3.650959	0.67472	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.10763	3.0;2.84;3.0	4.87	3.92	0.45320	.	0.178139	0.42682	D	0.000671	T	0.30479	0.0766	M	0.80847	2.515	0.32648	N	0.519777	D;D	0.89917	1.0;1.0	D;D	0.78314	0.987;0.991	T	0.43310	-0.9399	10	0.59425	D	0.04	-28.8677	8.1322	0.31033	0.0847:0.0:0.7591:0.1562	.	550;615	Q8IY82-2;Q8IY82	.;CC135_HUMAN	H	615;550;615	ENSP00000377869:R615H;ENSP00000338938:R550H;ENSP00000353942:R615H	ENSP00000338938:R550H	R	+	2	0	CCDC135	56317566	0.999000	0.42202	1.000000	0.80357	0.784000	0.44337	2.094000	0.41719	1.064000	0.40671	-0.119000	0.15052	CGC		0.632	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			7	14	0	0	0	1	0	7	14					A	57760065	G	A	57760065	3	1	435	1	0	0	0	0	1	0	0	0	2769	1087	38	1	1890	1	CCDC135	16	57760065	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18618	57760065	32594688	6939	27864											
CCDC135	84229	broad.mit.edu	37	chr16	57760785	57760785	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaagctgctctaccagtaCgaggccatgatgcacctgaa	13	7	10	11	1	1	3	0	2	1	1	1	4	1	3	3	1	5	4	3	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57760785C>T	ENST00000360716.3	+	15	2237	c.2016C>T	c.(2014-2016)taC>taT	p.Y672Y	CCDC135_ENST00000394337.4_Silent_p.Y672Y|CCDC135_ENST00000336825.8_Silent_p.Y607Y			Q8IY82	CC135_HUMAN		672					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TCTACCAGTACGAGGCCATGA	0.577																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(2014-2016)taC>taT		coiled-coil domain containing 135							74	65	68					16																	57760785		2197	4300	6497	SO:0001819	synonymous_variant	84229					cytoplasm		g.chr16:57760785C>T																												ENST00000360716.3:c.2016C>T	16.37:g.57760785C>T						CCDC135_ENST00000336825.8_Silent_p.Y607Y|CCDC135_ENST00000394337.4_Silent_p.Y672Y	p.Y672Y			Q8IY82	CC135_HUMAN			15	2237	+			672					A8K943|Q8NAA0|Q9H080	Silent	SNP	ENST00000360716.3	37	c.2016C>T	CCDS10787.1																																																																																				0.577	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			7	14	0	0	0	1	0	7	14					T	57760785	C	T	57760785	2	4	435	1	0	0	0	0	0	0	0	1	2769	547	19	1		1	CCDC135	16	57760785	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	720	57760785	32593968	6940	27865											
KATNB1	10300	broad.mit.edu	37	chr16	57789088	57789088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacctgcacccaaggctgagCctgccatcatccctgccacc	8	6	7	20	0	1	1	1	1	0	0	2	1	2	1	7	1	4	2	7	1	1	0	rs149569503	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57789088C>T	ENST00000379661.3	+	15	1746	c.1354C>T	c.(1354-1356)Cct>Tct	p.P452S		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CAAGGCTGAGCCTGCCATCAT	0.662																																						ENST00000379661.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1354-1356)Cct>Tct		katanin p80 (WD repeat containing) subunit B 1		C	SER/PRO	2,4392	4.2+/-10.8	0,2,2195	26	29	28		1354	4.4	1	16	dbSNP_134	28	25,8575	17.3+/-56.4	0,25,4275	yes	missense	KATNB1	NM_005886.2	74	0,27,6470	TT,TC,CC		0.2907,0.0455,0.2078	possibly-damaging	452/656	57789088	27,12967	2197	4300	6497	SO:0001583	missense	10300				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	g.chr16:57789088C>T	AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"WD repeat domain containing"	6217	protein-coding gene	gene with protein product		602703	"katanin p80 (WD40-containing) subunit B 1"			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.1354C>T	16.37:g.57789088C>T	ENSP00000368982:p.Pro452Ser						p.P452S	NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN			15	1746	+		all_neural(199;0.223)	452			Interaction with KATNA1 and NDEL1 (By similarity).			Missense_Mutation	SNP	ENST00000379661.3	37	c.1354C>T	CCDS10788.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374091	0.82573	4.55E-4	0.002907	ENSG00000140854	ENST00000379661	T	0.55413	0.52	5.33	4.37	0.52481	.	0.153898	0.64402	D	0.000014	T	0.46308	0.1386	M	0.62723	1.935	0.58432	D	0.999997	P	0.35575	0.51	B	0.25140	0.058	T	0.48139	-0.9061	10	0.44086	T	0.13	-19.0266	13.4506	0.61169	0.0:0.9238:0.0:0.0762	.	452	Q9BVA0	KTNB1_HUMAN	S	452	ENSP00000368982:P452S	ENSP00000368982:P452S	P	+	1	0	KATNB1	56346589	1.000000	0.71417	0.986000	0.45419	0.899000	0.52679	2.253000	0.43205	1.257000	0.44085	0.650000	0.86243	CCT		0.662	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3			5	16	0	0	0	1	0	5	16					T	57789088	C	T	57789088	3	4	435	1	0	0	0	0	1	0	0	0	7987	739	26	3	1408	3	KATNB1	16	57789088	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	28303	57789088	32565665	6941	27866											
KIFC3	3801	broad.mit.edu	37	chr16	57794985	57794985	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgtgctgcagtccacGcctcgcaccgtcacgatgag	7	7	12	15	4	1	1	1	1	0	0	3	2	2	1	4	1	2	3	4	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57794985G>A	ENST00000379655.4	-	15	2228	c.1971C>T	c.(1969-1971)ggC>ggT	p.G657G	KIFC3_ENST00000543930.1_Silent_p.G515G|KIFC3_ENST00000541240.1_Silent_p.G679G|KIFC3_ENST00000445690.2_Silent_p.G657G|KIFC3_ENST00000562903.1_Silent_p.G518G|KIFC3_ENST00000465878.2_Silent_p.G518G|KIFC3_ENST00000421376.2_Silent_p.G518G|KIFC3_ENST00000539578.1_Silent_p.G599G|KIFC3_ENST00000540079.2_Silent_p.G555G	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	657	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TGCAGTCCACGCCTCGCACCG	0.642																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1969-1971)ggC>ggT		kinesin family member C3							78	69	72					16																	57794985		2198	4299	6497	SO:0001819	synonymous_variant	3801				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	g.chr16:57794985G>A	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1971C>T	16.37:g.57794985G>A						KIFC3_ENST00000541240.1_Silent_p.G679G|KIFC3_ENST00000465878.2_Silent_p.G518G|KIFC3_ENST00000543930.1_Silent_p.G515G|KIFC3_ENST00000540079.2_Silent_p.G555G|KIFC3_ENST00000539578.1_Silent_p.G599G|KIFC3_ENST00000445690.2_Silent_p.G657G|KIFC3_ENST00000421376.2_Silent_p.G518G|KIFC3_ENST00000562903.1_Silent_p.G518G	p.G657G	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			15	2228	-		all_neural(199;0.224)	657			Kinesin-motor.		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	ENST00000379655.4	37	c.1971C>T	CCDS10789.2																																																																																				0.642	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		9	11	0	0	0	1	0	9	11					A	57794985	G	A	57794985	2	1	435	1	0	0	0	0	0	0	0	1	8314	1074	38	1		1	KIFC3	16	57794985	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5897	57794985	32559768	6942	27867											
KIFC3	3801	broad.mit.edu	37	chr16	57798061	57798061	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggcagcacccacctccatCgtgtacgtcttgccggcgcc	5	8	11	17	4	1	0	0	0	1	0	3	0	2	0	5	2	3	3	5	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57798061C>T	ENST00000379655.4	-	12	1868	c.1611G>A	c.(1609-1611)acG>acA	p.T537T	KIFC3_ENST00000543930.1_Silent_p.T395T|KIFC3_ENST00000541240.1_Silent_p.T559T|KIFC3_ENST00000445690.2_Silent_p.T537T|KIFC3_ENST00000562903.1_Silent_p.T398T|KIFC3_ENST00000465878.2_Silent_p.T398T|KIFC3_ENST00000421376.2_Silent_p.T398T|KIFC3_ENST00000539578.1_Silent_p.T479T|KIFC3_ENST00000540079.2_Silent_p.T435T	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	537	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CCACCTCCATCGTGTACGTCT	0.577																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1609-1611)acG>acA		kinesin family member C3							75	67	70					16																	57798061		2198	4300	6498	SO:0001819	synonymous_variant	3801				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	g.chr16:57798061C>T	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1611G>A	16.37:g.57798061C>T						KIFC3_ENST00000541240.1_Silent_p.T559T|KIFC3_ENST00000465878.2_Silent_p.T398T|KIFC3_ENST00000543930.1_Silent_p.T395T|KIFC3_ENST00000540079.2_Silent_p.T435T|KIFC3_ENST00000539578.1_Silent_p.T479T|KIFC3_ENST00000445690.2_Silent_p.T537T|KIFC3_ENST00000421376.2_Silent_p.T398T|KIFC3_ENST00000562903.1_Silent_p.T398T	p.T537T	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			12	1868	-		all_neural(199;0.224)	537			Kinesin-motor.		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	ENST00000379655.4	37	c.1611G>A	CCDS10789.2																																																																																				0.577	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		11	25	0	0	0	1	0	11	25					T	57798061	C	T	57798061	2	4	435	1	0	0	0	0	0	0	0	1	8314	871	31	2		2	KIFC3	16	57798061	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3076	57798061	32556692	6943	27868											
ZNF319	57567	broad.mit.edu	37	chr16	58030521	58030521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaggccacgtctaggaagCgctccccgcaccatacacac	12	4	8	17	3	1	0	0	0	1	0	2	1	2	1	4	2	2	2	4	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:58030521C>T	ENST00000299237.2	-	2	2271	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GTCTAGGAAGCGCTCCCCGCA	0.672																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(1648-1650)cGc>cAc		zinc finger protein 319							34	28	30					16																	58030521		2198	4300	6498	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58030521C>T	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"Zinc fingers, C2H2-type"	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1649G>A	16.37:g.58030521C>T	ENSP00000299237:p.Arg550His						p.R550H	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	2271	-			550					Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.1649G>A	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781829	0.70222	.	.	ENSG00000166188	ENST00000299237	T	0.07567	3.18	5.07	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.062948	0.64402	D	0.000006	T	0.24160	0.0585	M	0.67953	2.075	0.58432	D	0.999998	D	0.89917	1.0	D	0.63033	0.91	T	0.01149	-1.1436	10	0.87932	D	0	-41.2156	13.9062	0.63836	0.1534:0.8466:0.0:0.0	.	550	Q9P2F9	ZN319_HUMAN	H	550	ENSP00000299237:R550H	ENSP00000299237:R550H	R	-	2	0	ZNF319	56588022	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.053000	0.71089	1.098000	0.41479	0.561000	0.74099	CGC		0.672	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			11	15	0	0	0	1	0	11	15					T	58030521	C	T	58030521	3	4	435	1	0	0	0	0	1	0	0	0	17834	768	27	1	103	1	ZNF319	16	58030521	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	232460	58030521	32324232	6944	27869											
ZNF319	57567	broad.mit.edu	37	chr16	58032066	58032066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgtgcccggaggcagcGtgtgctctgccagggctggc	3	6	17	15	4	1	0	0	0	1	0	1	1	1	1	4	4	4	3	4	4	0	0	rs377747195		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:58032066G>A	ENST00000299237.2	-	2	726	c.104C>T	c.(103-105)aCg>aTg	p.T35M	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	35	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CGGAGGCAGCGTGTGCTCTGC	0.701																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(103-105)aCg>aTg		zinc finger protein 319		G	MET/THR	1,4395	2.1+/-5.4	0,1,2197	57	57	57		104	3.7	0.7	16		57	0,8596		0,0,4298	no	missense	ZNF319	NM_020807.1	81	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	35/583	58032066	1,12991	2198	4298	6496	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58032066G>A	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"Zinc fingers, C2H2-type"	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.104C>T	16.37:g.58032066G>A	ENSP00000299237:p.Thr35Met						p.T35M	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	726	-			35			Pro-rich.		Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.104C>T	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	G	6.406	0.442981	0.12164	2.27E-4	0.0	ENSG00000166188	ENST00000299237	T	0.03580	3.88	4.71	3.73	0.42828	.	0.176975	0.33092	N	0.005282	T	0.02418	0.0074	N	0.12182	0.205	0.38800	D	0.955178	P	0.44006	0.824	B	0.33521	0.165	T	0.58819	-0.7569	10	0.66056	D	0.02	-5.1077	13.8929	0.63750	0.0:0.1536:0.8464:0.0	.	35	Q9P2F9	ZN319_HUMAN	M	35	ENSP00000299237:T35M	ENSP00000299237:T35M	T	-	2	0	ZNF319	56589567	0.989000	0.36119	0.749000	0.31150	0.019000	0.09904	4.460000	0.60108	1.143000	0.42306	0.462000	0.41574	ACG		0.701	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			21	21	0	0	0	1	0	21	21					A	58032066	G	A	58032066	3	1	435	1	0	0	0	0	1	0	0	0	17834	1145	40	1	1648	1	ZNF319	16	58032066	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1545	58032066	32322687	6945	27870											
C16orf80	29105	broad.mit.edu	37	chr16	58149205	58149205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcgatgtaattggtgcCgtatgctcgccgtgtgaagt	6	13	14	8	4	1	1	0	1	1	0	3	2	1	1	2	2	2	3	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:58149205C>T	ENST00000262498.3	-	4	767	c.433G>A	c.(433-435)Ggc>Agc	p.G145S	CTB-134F13.1_ENST00000564672.1_RNA|C16orf80_ENST00000562443.1_5'UTR	NM_013242.2	NP_037374.1														kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TAATTGGTGCCGTATGCTCGC	0.547																																					Pancreas(103;1212 1612 18629 30162 52390)	ENST00000262498.3																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(433-435)Ggc>Agc		chromosome 16 open reading frame 80							241	200	214					16																	58149205		2198	4300	6498	SO:0001583	missense	29105				multicellular organismal development			g.chr16:58149205C>T																												ENST00000262498.3:c.433G>A	16.37:g.58149205C>T	ENSP00000262498:p.Gly145Ser					C16orf80_ENST00000562443.1_5'UTR	p.G145S	NM_013242.2	NP_037374.1	Q9Y6A4	CP080_HUMAN			4	767	-			145						Missense_Mutation	SNP	ENST00000262498.3	37	c.433G>A	CCDS10793.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700952	0.88924	.	.	ENSG00000070761	ENST00000262498	T	0.45276	0.9	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.64594	0.2612	M	0.92833	3.35	0.80722	D	1	P	0.47962	0.903	P	0.49252	0.604	T	0.70241	-0.4926	10	0.46703	T	0.11	-32.1389	18.0354	0.89301	0.0:1.0:0.0:0.0	.	145	Q9Y6A4	CP080_HUMAN	S	145	ENSP00000262498:G145S	ENSP00000262498:G145S	G	-	1	0	C16orf80	56706706	1.000000	0.71417	0.998000	0.56505	0.323000	0.28346	7.282000	0.78630	2.941000	0.99782	0.655000	0.94253	GGC		0.547	C16orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257388.2			38	47	0	0	0	1	0	38	47					T	58149205	C	T	58149205	3	4	435	1	0	0	0	0	1	0	0	0	1837	652	23	2	160	2	C16orf80	16	58149205	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	117139	58149205	32205548	6946	27871											
CDH8	1006	broad.mit.edu	37	chr16	61687978	61687978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttcatttttatgccgcCgtagagttacaaacagcacc	11	12	8	10	2	1	1	1	0	0	1	1	1	1	1	3	1	4	4	3	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:61687978C>T	ENST00000577390.1	-	12	2888	c.1934G>A	c.(1933-1935)cGg>cAg	p.R645Q	CDH8_ENST00000299345.6_Missense_Mutation_p.R645Q|CDH8_ENST00000577730.1_Missense_Mutation_p.R645Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	645					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			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)		TTTATGCCGCCGTAGAGTTAC	0.383																																						ENST00000577390.1																			0				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						c.(1933-1935)cGg>cAg		cadherin 8, type 2							61	61	61					16																	61687978		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687978C>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1934G>A	16.37:g.61687978C>T	ENSP00000462701:p.Arg645Gln					CDH8_ENST00000299345.6_Missense_Mutation_p.R645Q|CDH8_ENST00000577730.1_Missense_Mutation_p.R645Q	p.R645Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		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)	12	2888	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	645					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1934G>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	37	6.035522	0.97221	.	.	ENSG00000150394	ENST00000299345	T	0.59906	0.23	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.73337	0.3574	L	0.58510	1.815	0.80722	D	1	D	0.69078	0.997	D	0.66979	0.948	T	0.74864	-0.3519	10	0.87932	D	0	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	645	P55286	CADH8_HUMAN	Q	645	ENSP00000299345:R645Q	ENSP00000299345:R645Q	R	-	2	0	CDH8	60245479	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.770000	0.85390	2.679000	0.91253	0.655000	0.94253	CGG		0.383	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		36	49	0	0	0	1	0	36	49					T	61687978	C	T	61687978	3	4	435	1	0	0	0	0	1	0	0	0	3116	652	23	2	469	2	CDH8	16	61687978	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3538773	61687978	28666775	6947	27872											
CDH8	1006	broad.mit.edu	37	chr16	61851610	61851610	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctctacctttagcgtataGgattttttggtctcaaagtc	8	16	8	9	1	2	0	1	0	2	0	4	1	2	1	2	2	2	1	2	2	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:61851610G>T	ENST00000577390.1	-	7	2004	c.1050C>A	c.(1048-1050)tcC>tcA	p.S350S	CDH8_ENST00000584337.1_Silent_p.S350S|CDH8_ENST00000299345.6_Silent_p.S350S|CDH8_ENST00000577730.1_Silent_p.S350S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	350	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			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)		TTAGCGTATAGGATTTTTTGG	0.443																																						ENST00000577390.1																			0				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						c.(1048-1050)tcC>tcA		cadherin 8, type 2							68	53	58					16																	61851610		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61851610G>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1050C>A	16.37:g.61851610G>T						CDH8_ENST00000584337.1_Silent_p.S350S|CDH8_ENST00000299345.6_Silent_p.S350S|CDH8_ENST00000577730.1_Silent_p.S350S	p.S350S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		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)	7	2004	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	350			Cadherin 3.		B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.1050C>A	CCDS10802.1																																																																																				0.443	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		25	35	1	0	3.01185e-09	1	3.19065e-09	25	35					T	61851610	G	T	61851610	2	4	435	1	0	0	0	0	0	0	0	1	3116	987	35	5		5	CDH8	16	61851610	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	163632	61851610	28503143	6948	27873											
CDH11	1009	broad.mit.edu	37	chr16	64984908	64984908	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacgccgggcgtacacGcctgctgtgttatctgcaga	6	9	11	15	4	1	1	0	0	1	1	2	1	2	1	4	1	3	4	4	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:64984908G>A	ENST00000268603.4	-	12	2271	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G	CDH11_ENST00000566827.1_Silent_p.G426G|CDH11_ENST00000394156.3_Silent_p.G552G	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	552	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGGCGTACACGCCTGCTGTGT	0.597			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"cadherin 11, type 2, OB-cadherin (osteoblast)"			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1654-1656)ggC>ggT		cadherin 11, type 2, OB-cadherin (osteoblast)							46	46	46					16																	64984908		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64984908G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1656C>T	16.37:g.64984908G>A		TSP Lung(24;0.17)				CDH11_ENST00000566827.1_Silent_p.G426G|CDH11_ENST00000268603.4_Silent_p.G552G	p.G552G			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	12	2109	-		Ovarian(137;0.0973)	552			Cadherin 5.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.1656C>T	CCDS10803.1																																																																																				0.597	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		4	24	0	0	0	1	0	4	24					A	64984908	G	A	64984908	2	1	435	1	0	0	0	0	0	0	0	1	3097	1074	38	1		1	CDH11	16	64984908	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3133298	64984908	25369845	6949	27874											
CDH11	1009	broad.mit.edu	37	chr16	65032614	65032614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgcctgagccatcaacGtgtactgggctctctcttct	6	11	8	16	2	4	1	1	1	3	0	5	1	4	1	4	1	3	2	4	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:65032614G>A	ENST00000268603.4	-	4	989	c.374C>T	c.(373-375)aCg>aTg	p.T125M	CDH11_ENST00000566827.1_De_novo_Start_InFrame|CDH11_ENST00000394156.3_Missense_Mutation_p.T125M	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	125	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGCCATCAACGTGTACTGGGC	0.527			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"cadherin 11, type 2, OB-cadherin (osteoblast)"			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(373-375)aCg>aTg		cadherin 11, type 2, OB-cadherin (osteoblast)							157	118	131					16																	65032614		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65032614G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.374C>T	16.37:g.65032614G>A	ENSP00000268603:p.Thr125Met	TSP Lung(24;0.17)				CDH11_ENST00000566827.1_De_novo_Start_InFrame|CDH11_ENST00000268603.4_Missense_Mutation_p.T125M	p.T125M			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	4	827	-		Ovarian(137;0.0973)	125			Cadherin 1.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.374C>T	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740264	0.89573	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390;ENST00000536902	T;T	0.53206	0.63;0.63	5.77	5.77	0.91146	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.72486	0.3466	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.962	T	0.74572	-0.3621	10	0.87932	D	0	.	19.335	0.94312	0.0:0.0:1.0:0.0	.	125;125	P55287-2;P55287	.;CAD11_HUMAN	M	125;125;108;125	ENSP00000268603:T125M;ENSP00000377711:T125M	ENSP00000268603:T125M	T	-	2	0	CDH11	63590115	1.000000	0.71417	0.988000	0.46212	0.899000	0.52679	7.508000	0.81686	2.884000	0.98904	0.655000	0.94253	ACG		0.527	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		17	22	0	0	0	1	0	17	22					A	65032614	G	A	65032614	3	1	435	1	0	0	0	0	1	0	0	0	3097	1145	40	1	2056	1	CDH11	16	65032614	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	47706	65032614	25322139	6950	27875											
CDH5	1003	broad.mit.edu	37	chr16	66431994	66431994	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcccaaagtgtgtgagaaCgctgtccatggccaggtgag	10	7	14	10	1	0	2	0	2	0	1	1	3	1	2	3	2	2	1	3	2	2	0	rs370750196		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:66431994C>T	ENST00000341529.3	+	9	1618	c.1470C>T	c.(1468-1470)aaC>aaT	p.N490N	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	490	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	TGTGTGAGAACGCTGTCCATG	0.562													C|||	1	0.000199681	0	0	5008	,	,		18707	0		0	False		,,,				2504	0.001					ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(1468-1470)aaC>aaT		cadherin 5, type 2 (vascular endothelium)		C		1,4401	2.1+/-5.4	0,1,2200	161	148	152		1470	-8.4	0	16		152	0,8600		0,0,4300	no	coding-synonymous	CDH5	NM_001795.3		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		490/785	66431994	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	1003				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	g.chr16:66431994C>T	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1470C>T	16.37:g.66431994C>T						CDH5_ENST00000539168.1_5'UTR	p.N490N	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	9	1618	+		Ovarian(137;0.0955)	490			Cadherin 5.		Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	c.1470C>T	CCDS10804.1																																																																																				0.562	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		29	62	0	0	0	1	0	29	62					T	66431994	C	T	66431994	2	4	435	1	0	0	0	0	0	0	0	1	3113	535	19	1		1	CDH5	16	66431994	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1399380	66431994	23922759	6951	27876											
DYNC1LI2	1783	broad.mit.edu	37	chr16	66770078	66770078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcggagcctgaggtcagaGggcctcttctctgtggggaa	7	9	15	10	1	3	2	1	1	2	1	5	4	3	4	2	5	1	0	2	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:66770078G>T	ENST00000258198.2	-	5	805	c.599C>A	c.(598-600)cCt>cAt	p.P200H	RP11-63M22.1_ENST00000565082.1_lincRNA|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.P161H|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.P123H|DYNC1LI2_ENST00000379482.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	200					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TGAGGTCAGAGGGCCTCTTCT	0.483																																						ENST00000258198.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15						c.(598-600)cCt>cAt		dynein, cytoplasmic 1, light intermediate chain 2							117	109	111					16																	66770078		2200	4300	6500	SO:0001583	missense	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66770078G>T	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"Cytoplasmic dyneins"	2966	protein-coding gene	gene with protein product		611406	"dynein, cytoplasmic, light intermediate polypeptide 2"	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.599C>A	16.37:g.66770078G>T	ENSP00000258198:p.Pro200His					DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.P161H|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.P123H	p.P200H	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	5	805	-		Ovarian(137;0.0563)	200					A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	ENST00000258198.2	37	c.599C>A	CCDS10818.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464290	0.84425	.	.	ENSG00000135720	ENST00000258198;ENST00000443351;ENST00000440564	T;T;T	0.18174	2.23;2.23;2.23	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	1.0;0.973;1.0;0.996	D;P;D;D	0.97110	1.0;0.796;0.979;0.967	T	0.12708	-1.0537	10	0.72032	D	0.01	-23.2823	19.2279	0.93824	0.0:0.0:1.0:0.0	.	161;200;123;200	B4E2E0;B4DHD8;B4DZP4;O43237	.;.;.;DC1L2_HUMAN	H	200;123;161	ENSP00000258198:P200H;ENSP00000394289:P123H;ENSP00000408566:P161H	ENSP00000258198:P200H	P	-	2	0	DYNC1LI2	65327579	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	7.329000	0.79170	2.771000	0.95319	0.563000	0.77884	CCT		0.483	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141		16	20	1	0	2.32078e-09	1	2.46314e-09	16	20					T	66770078	G	T	66770078	3	4	435	1	0	0	0	0	1	0	0	0	4845	1000	35	5	915	5	DYNC1LI2	16	66770078	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	338084	66770078	23584675	6952	27877											
RRAD	6236	broad.mit.edu	37	chr16	66956145	66956145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcttctttgctgtccctgCgcaggcgtatctggcgcacg	3	12	13	13	4	2	0	0	0	2	0	3	0	3	0	1	3	2	5	1	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:66956145C>T	ENST00000299759.6	-	5	1011	c.761G>A	c.(760-762)cGc>cAc	p.R254H	RRAD_ENST00000420652.1_Missense_Mutation_p.R254H			P55042	RAD_HUMAN	Ras-related associated with diabetes	254					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R254H(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GCTGTCCCTGCGCAGGCGTAT	0.592																																						ENST00000299759.6																			1	Substitution - Missense(1)	p.R254H(1)	prostate(1)	endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(760-762)cGc>cAc		Ras-related associated with diabetes							89	68	75					16																	66956145		2200	4300	6500	SO:0001583	missense	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66956145C>T	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.761G>A	16.37:g.66956145C>T	ENSP00000299759:p.Arg254His					RRAD_ENST00000420652.1_Missense_Mutation_p.R254H	p.R254H			P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	5	1011	-		Ovarian(137;0.192)	254					Q96F39	Missense_Mutation	SNP	ENST00000299759.6	37	c.761G>A	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442921	0.96187	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.80304	-1.36;-1.36	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.89815	0.6824	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.89783	0.3962	10	0.87932	D	0	.	20.328	0.98708	0.0:1.0:0.0:0.0	.	254	P55042	RAD_HUMAN	H	254	ENSP00000388744:R254H;ENSP00000299759:R254H	ENSP00000299759:R254H	R	-	2	0	RRAD	65513646	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.484000	0.81180	2.802000	0.96397	0.561000	0.74099	CGC		0.592	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		14	29	0	0	0	1	0	14	29					T	66956145	C	T	66956145	3	4	435	1	0	0	0	0	1	0	0	0	13671	768	27	1	169	1	RRAD	16	66956145	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	186067	66956145	23398608	6953	27878											
CES2	8824	broad.mit.edu	37	chr16	66974233	66974233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtcatcatccagtacCgcctgggtgtcctgggcttc	4	12	13	12	1	2	0	2	0	0	0	5	0	4	0	4	4	1	2	4	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:66974233C>T	ENST00000317091.4	+	4	1708	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Missense_Mutation_p.R242C	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	178					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	CATCCAGTACCGCCTGGGTGT	0.607																																					Ovarian(70;1230 1691 37888 38351)	ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(724-726)Cgc>Tgc		carboxylesterase 2							213	174	187					16																	66974233		2200	4300	6500	SO:0001583	missense	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66974233C>T	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"Carboxylesterases"	1864	protein-coding gene	gene with protein product		605278	"carboxylesterase 2 (intestine, liver)"			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.724C>T	16.37:g.66974233C>T	ENSP00000317842:p.Arg242Cys					CES2_ENST00000417689.1_Missense_Mutation_p.R242C	p.R242C	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	4	1708	+		Ovarian(137;0.0563)	178					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	c.724C>T	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382393	0.82792	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	D;D	0.90788	-2.73;-2.73	5.29	3.22	0.36961	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000005	D	0.96975	0.9012	H	0.99642	4.675	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95221	0.8334	10	0.87932	D	0	.	6.2758	0.20979	0.2945:0.6123:0.0:0.0932	.	178;242	O00748;A8K367	EST2_HUMAN;.	C	242	ENSP00000394452:R242C;ENSP00000317842:R242C	ENSP00000317842:R242C	R	+	1	0	CES2	65531734	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	0.835000	0.27531	1.475000	0.48197	0.650000	0.86243	CGC		0.607	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		7	51	0	0	0	1	0	7	51					T	66974233	C	T	66974233	3	4	435	1	0	0	0	0	1	0	0	0	3270	652	23	2	738	2	CES2	16	66974233	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18088	66974233	23380520	6954	27879											
CES2	8824	broad.mit.edu	37	chr16	66976084	66976084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatccccagaccctccaagCgcagttccaggagatgatgg	10	6	12	13	1	0	3	0	1	0	2	3	5	3	4	5	3	1	2	5	3	1	1	rs141601821		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:66976084C>T	ENST00000317091.4	+	9	2390	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Missense_Mutation_p.A469V	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	405					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	ACCCTCCAAGCGCAGTTCCAG	0.537																																					Ovarian(70;1230 1691 37888 38351)	ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(1405-1407)gCg>gTg		carboxylesterase 2		C	VAL/ALA,VAL/ALA	0,4400		0,0,2200	130	105	114		1406,1406	-1.6	0	16	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CES2	NM_003869.5,NM_198061.2	64,64	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	469/624,469/608	66976084	1,12999	2200	4300	6500	SO:0001583	missense	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66976084C>T	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"Carboxylesterases"	1864	protein-coding gene	gene with protein product		605278	"carboxylesterase 2 (intestine, liver)"			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1406C>T	16.37:g.66976084C>T	ENSP00000317842:p.Ala469Val					CES2_ENST00000417689.1_Missense_Mutation_p.A469V	p.A469V	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	9	2390	+		Ovarian(137;0.0563)	405					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	c.1406C>T	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	C	5.722	0.317633	0.10845	0.0	1.16E-4	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.68025	-0.3;-0.3	5.12	-1.61	0.08399	Carboxylesterase, type B (1);	1.760750	0.02880	N	0.132739	T	0.47488	0.1448	N	0.21240	0.645	0.09310	N	1	B;B	0.23937	0.024;0.094	B;B	0.21708	0.036;0.036	T	0.12760	-1.0535	10	0.15499	T	0.54	.	3.6975	0.08369	0.2733:0.3178:0.0:0.4089	.	405;469	O00748;A8K367	EST2_HUMAN;.	V	469	ENSP00000394452:A469V;ENSP00000317842:A469V	ENSP00000317842:A469V	A	+	2	0	CES2	65533585	0.000000	0.05858	0.001000	0.08648	0.076000	0.17211	-2.581000	0.00906	-0.429000	0.07329	0.650000	0.86243	GCG		0.537	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		15	24	0	0	0	1	0	15	24					T	66976084	C	T	66976084	3	4	435	1	0	0	0	0	1	0	0	0	3270	768	27	1	1440	1	CES2	16	66976084	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1851	66976084	23378669	6955	27880											
CES8	283848	broad.mit.edu	37	chr16	67038065	67038065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctcctgacccaggggaagGtttcatctgtgccctacctt	6	12	10	13	0	2	1	1	1	1	0	3	2	3	2	4	3	3	2	4	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67038065G>A	ENST00000326686.5	+	9	1018	c.1018G>A	c.(1018-1020)Gtt>Att	p.V340I	CES4A_ENST00000540947.2_Missense_Mutation_p.V340I|CES4A_ENST00000398354.1_Missense_Mutation_p.V340I|CES4A_ENST00000541479.1_Missense_Mutation_p.V363I|CES4A_ENST00000338718.4_Missense_Mutation_p.V363I|CES4A_ENST00000540579.1_Missense_Mutation_p.V242I|CES4A_ENST00000535696.1_Missense_Mutation_p.V246I			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	340						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CCAGGGGAAGGTTTCATCTGT	0.498																																						ENST00000540947.2																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(1018-1020)Gtt>Att		carboxylesterase 4A							205	203	204					16																	67038065		2036	4178	6214	SO:0001583	missense	283848					extracellular region	carboxylesterase activity	g.chr16:67038065G>A	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"Carboxylesterases"	26741	protein-coding gene	gene with protein product			"carboxylesterase 8 (putative)"	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.1018G>A	16.37:g.67038065G>A	ENSP00000314145:p.Val340Ile					CES4A_ENST00000540579.1_Missense_Mutation_p.V242I|CES4A_ENST00000398354.1_Missense_Mutation_p.V340I|CES4A_ENST00000541479.1_Missense_Mutation_p.V363I|CES4A_ENST00000535696.1_Missense_Mutation_p.V246I|CES4A_ENST00000338718.4_Missense_Mutation_p.V363I|CES4A_ENST00000326686.5_Missense_Mutation_p.V340I	p.V340I	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN			9	1202	+			340					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37	c.1018G>A		.	.	.	.	.	.	.	.	.	.	g	7.789	0.711140	0.15239	.	.	ENSG00000172824	ENST00000540947;ENST00000541479;ENST00000338718;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579;ENST00000535696	T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	4.63	-0.399	0.12415	Carboxylesterase, type B (1);	0.470213	0.17417	N	0.174982	T	0.36138	0.0956	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.10296	0.003;0.001;0.0;0.001	B;B;B;B	0.12837	0.003;0.003;0.008;0.004	T	0.17319	-1.0373	10	0.49607	T	0.09	.	3.251	0.06814	0.3095:0.0:0.3056:0.3848	.	246;363;340;363	Q5XG92-7;F8WEE9;Q5XG92;F5H5S4	.;.;EST4A_HUMAN;.	I	340;363;363;340;340;303;242;246	ENSP00000444052:V340I;ENSP00000443175:V363I;ENSP00000340714:V363I;ENSP00000381397:V340I;ENSP00000314145:V340I;ENSP00000441103:V303I;ENSP00000441907:V242I;ENSP00000441644:V246I	ENSP00000314145:V340I	V	+	1	0	CES4A	65595566	0.059000	0.20769	0.156000	0.22583	0.286000	0.27126	0.210000	0.17455	0.043000	0.15746	-0.436000	0.05848	GTT		0.498	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		41	52	0	0	0	1	0	41	52					A	67038065	G	A	67038065	3	1	435	1	0	0	0	0	1	0	0	0	3273	1261	44	3	1133	3	CES8	16	67038065	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	61981	67038065	23316688	6956	27881											
B3GNT9	80262	broad.mit.edu	37	chr16	67183701	67183701	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgttcacgaacacatctgCgtcgcccttaaaaacgaagc	13	7	7	14	5	2	0	1	0	1	0	3	2	2	0	1	0	4	1	1	0	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67183701C>T	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Missense_Mutation_p.A230T	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											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)		AACACATCTGCGTCGCCCTTA	0.577																																						ENST00000449549.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(688-690)Gca>Aca		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9							33	35	34					16																	67183701		2008	4159	6167	SO:0001628	intergenic_variant	84752				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr16:67183701C>T	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67183701C>T							p.A230T	NM_033309.2	NP_171608.2	Q6UX72	B3GN9_HUMAN			2	1223	-			230					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.688G>A	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	c	13.12	2.142385	0.37825	.	.	ENSG00000237172	ENST00000449549	T	0.40756	1.02	5.02	3.03	0.35002	.	.	.	.	.	T	0.29524	0.0736	L	0.33137	0.985	0.31899	N	0.616206	P	0.38677	0.642	B	0.36845	0.234	T	0.31308	-0.9948	9	0.37606	T	0.19	-23.923	8.1134	0.30928	0.1595:0.7562:0.0:0.0843	.	230	Q6UX72	B3GN9_HUMAN	T	230	ENSP00000400157:A230T	ENSP00000400157:A230T	A	-	1	0	B3GNT9	65741202	0.972000	0.33761	0.443000	0.26883	0.280000	0.26924	2.690000	0.47001	1.079000	0.41038	0.556000	0.70494	GCA		0.577	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		7	18	0	0	0	1	0	7	18					T	67183701	C	T	67183701	1	4	435	0	1	0	0	0	0	0	0	0	1264	768	27	1		1	B3GNT9	16	67183701	IGR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	145636	67183701	23171052	6957	27882											
FBXL8	55336	broad.mit.edu	37	chr16	67195834	67195834	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgccgtgtggcacgacacaaAaatcaggtgagcctgctcct	10	7	11	13	3	1	1	1	1	0	0	2	2	2	1	3	2	2	2	3	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67195834A>G	ENST00000258200.3	+	2	323	c.146A>G	c.(145-147)aAa>aGa	p.K49R	HSF4_ENST00000521374.1_5'Flank|FBXL8_ENST00000518148.1_Missense_Mutation_p.K49R|HSF4_ENST00000264009.8_5'Flank|HSF4_ENST00000421453.1_5'Flank|TRADD_ENST00000566104.1_5'Flank|FBXL8_ENST00000521920.1_Missense_Mutation_p.K49R|FBXL8_ENST00000519917.1_Missense_Mutation_p.K49R|TRADD_ENST00000345057.4_5'Flank|RP11-5A19.5_ENST00000518227.1_5'Flank|HSF4_ENST00000584272.1_5'Flank			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	49										endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		CACGACACAAAAATCAGGTGA	0.637																																						ENST00000258200.3																			0				endometrium(1)	1						c.(145-147)aAa>aGa		F-box and leucine-rich repeat protein 8							31	35	34					16																	67195834		2196	4300	6496	SO:0001583	missense	55336						protein binding	g.chr16:67195834A>G	AK002140	CCDS10831.1	16q22.1-q22.3	2013-01-22			ENSG00000135722	ENSG00000135722		"F-boxes / Leucine-rich repeats"	17875	protein-coding gene	gene with protein product		609077					Standard	NM_018378		Approved	Fbl8	uc002erk.1	Q96CD0	OTTHUMG00000137514	ENST00000258200.3:c.146A>G	16.37:g.67195834A>G	ENSP00000258200:p.Lys49Arg					FBXL8_ENST00000518148.1_Missense_Mutation_p.K49R|FBXL8_ENST00000519917.1_Missense_Mutation_p.K49R|FBXL8_ENST00000521920.1_Missense_Mutation_p.K49R	p.K49R			Q96CD0	FBXL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)	2	323	+		Ovarian(137;0.0563)	49					Q9NUM0	Missense_Mutation	SNP	ENST00000258200.3	37	c.146A>G	CCDS10831.1	.	.	.	.	.	.	.	.	.	.	A	17.75	3.467350	0.63625	.	.	ENSG00000135722	ENST00000258200;ENST00000518148;ENST00000519917;ENST00000517382;ENST00000521920;ENST00000523893;ENST00000519378	T;T;T;T;T	0.54071	0.96;0.59;0.59;2.01;2.01	6.04	-4.27	0.03744	.	1.504080	0.03983	N	0.293705	T	0.28333	0.0700	N	0.13003	0.285	0.09310	N	1	B	0.17667	0.023	B	0.19666	0.026	T	0.07673	-1.0760	10	0.15952	T	0.53	-0.0765	2.0884	0.03651	0.2859:0.3577:0.2407:0.1157	.	49	Q96CD0	FBXL8_HUMAN	R	49	ENSP00000464169:K49R;ENSP00000430745:K49R;ENSP00000427895:K49R;ENSP00000428379:K49R;ENSP00000430027:K49R	ENSP00000258200:K49R	K	+	2	0	FBXL8	65753335	0.213000	0.23551	0.000000	0.03702	0.594000	0.36715	0.632000	0.24583	-1.168000	0.02776	0.459000	0.35465	AAA		0.637	FBXL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268834.2			3	6	0	0	0	1	0	3	6					G	67195834	A	G	67195834	3	3	435	1	0	0	0	0	1	0	0	0	5725	14	1	4	148	4	FBXL8	16	67195834	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	12133	67195834	23158919	6958	27883											
HSF4	3299	broad.mit.edu	37	chr16	67199676	67199676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctgcttaggccggagcGcgaccacgtcgagttccagc	6	6	14	15	6	0	0	0	0	0	0	2	3	1	1	4	3	3	2	4	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67199676G>A	ENST00000521374.1	+	3	287	c.287G>A	c.(286-288)cGc>cAc	p.R96H	HSF4_ENST00000264009.8_Missense_Mutation_p.R96H|HSF4_ENST00000421453.1_Missense_Mutation_p.R96H|HSF4_ENST00000584272.1_Missense_Mutation_p.R96H			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	96					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AGGCCGGAGCGCGACCACGTC	0.716																																						ENST00000264009.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(286-288)cGc>cAc		heat shock transcription factor 4							13	17	16					16																	67199676		1982	4174	6156	SO:0001583	missense	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67199676G>A	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.287G>A	16.37:g.67199676G>A	ENSP00000430947:p.Arg96His					RP11-5A19.5_ENST00000580114.1_3'UTR|HSF4_ENST00000521374.1_Missense_Mutation_p.R96H|RP11-5A19.5_ENST00000518753.1_3'UTR|HSF4_ENST00000421453.1_Missense_Mutation_p.R96H|HSF4_ENST00000584272.1_Missense_Mutation_p.R96H	p.R96H	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	5	1252	+		Ovarian(137;0.0563)	96					Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	c.287G>A	CCDS42175.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215274	0.79352	.	.	ENSG00000102878	ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374;ENST00000517729	D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67	4.86	3.86	0.44501	Winged helix-turn-helix transcription repressor DNA-binding (1);Heat shock factor (HSF)-type, DNA-binding (2);	0.116245	0.64402	D	0.000018	D	0.84642	0.5517	L	0.42744	1.35	0.58432	D	0.999995	P;B	0.34562	0.457;0.049	B;B	0.24541	0.054;0.009	D	0.85590	0.1245	10	0.52906	T	0.07	-20.3056	13.3605	0.60652	0.0:0.0:0.8424:0.1576	.	96;96	Q9ULV5-2;Q9ULV5	.;HSF4_HUMAN	H	96;96;96;96;54	ENSP00000408815:R96H;ENSP00000264009:R96H;ENSP00000428978:R96H;ENSP00000430947:R96H;ENSP00000430299:R54H	ENSP00000264009:R96H	R	+	2	0	HSF4	65757177	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.594000	0.61041	2.521000	0.84997	0.561000	0.74099	CGC		0.716	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		4	16	0	0	0	1	0	4	16					A	67199676	G	A	67199676	3	1	435	1	0	0	0	0	1	0	0	0	7398	1087	38	1	297	1	HSF4	16	67199676	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3842	67199676	23155077	6959	27884											
KIAA0895L	653319	broad.mit.edu	37	chr16	67210861	67210861	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggggccgcaggtggtcCacatcctcataggacacctg	8	7	12	14	1	1	0	1	0	0	0	3	1	3	1	5	5	0	1	5	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67210861C>T	ENST00000290881.7	-	8	2195	c.1269G>A	c.(1267-1269)gtG>gtA	p.V423V	KIAA0895L_ENST00000561621.1_3'UTR|KIAA0895L_ENST00000563831.2_5'UTR|KIAA0895L_ENST00000563902.1_Silent_p.V423V			Q68EN5	K895L_HUMAN	KIAA0895-like	423										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GCAGGTGGTCCACATCCTCAT	0.622																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(1267-1269)gtG>gtA		KIAA0895-like							58	62	61					16																	67210861		2005	4184	6189	SO:0001819	synonymous_variant	653319							g.chr16:67210861C>T	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.1269G>A	16.37:g.67210861C>T						KIAA0895L_ENST00000561679.1_Silent_p.V268V|KIAA0895L_ENST00000561621.1_3'UTR|KIAA0895L_ENST00000563902.1_Silent_p.V423V|KIAA0895L_ENST00000563831.2_5'UTR	p.V423V			Q68EN5	K895L_HUMAN			8	2195	-			423					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Silent	SNP	ENST00000290881.7	37	c.1269G>A	CCDS42177.1																																																																																				0.622	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		21	35	0	0	0	1	0	21	35					T	67210861	C	T	67210861	2	4	435	1	0	0	0	0	0	0	0	1	8198	581	21	3		3	KIAA0895L	16	67210861	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11185	67210861	23143892	6960	27885											
EXOC3L	283849	broad.mit.edu	37	chr16	67221640	67221640	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccccccaggggtgcccaCgtatcctctcgcagctgctc	5	7	11	18	2	1	0	0	0	1	0	4	0	2	0	5	3	3	4	5	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67221640C>T	ENST00000314586.6	-	5	768	c.528G>A	c.(526-528)acG>acA	p.T176T	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	176	Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}.				exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGGGTGCCCACGTATCCTCTC	0.632																																						ENST00000314586.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(526-528)acG>acA		exocyst complex component 3-like 1							37	43	41					16																	67221640		2198	4300	6498	SO:0001819	synonymous_variant	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67221640C>T	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"exocyst complex component 3-like"	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.528G>A	16.37:g.67221640C>T						EXOC3L1_ENST00000562887.1_Intron	p.T176T	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN			5	768	-			176			Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).		A8K7I9|Q8NAD2|Q8TEN2	Silent	SNP	ENST00000314586.6	37	c.528G>A	CCDS10832.1																																																																																				0.632	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		17	24	0	0	0	1	0	17	24					T	67221640	C	T	67221640	2	4	435	1	0	0	0	0	0	0	0	1	5304	523	19	1		1	EXOC3L	16	67221640	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10779	67221640	23133113	6961	27886											
FHOD1	29109	broad.mit.edu	37	chr16	67263726	67263726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgccgcgggaacgcttgcGttccctagcagctaaggcac	7	8	13	13	4	0	0	0	0	0	0	1	1	1	1	2	2	5	6	2	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67263726G>A	ENST00000258201.4	-	21	3629	c.3382C>T	c.(3382-3384)Cgc>Tgc	p.R1128C	LRRC29_ENST00000409509.1_5'Flank|LRRC29_ENST00000341546.3_5'Flank|LRRC29_ENST00000462169.1_5'Flank|AC040160.1_ENST00000454102.2_5'Flank	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1128	DAD.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GAACGCTTGCGTTCCCTAGCA	0.572																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(3382-3384)Cgc>Tgc		formin homology 2 domain containing 1							82	85	84					16																	67263726		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67263726G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3382C>T	16.37:g.67263726G>A	ENSP00000258201:p.Arg1128Cys					FHOD1_ENST00000567687.1_Missense_Mutation_p.R707C	p.R1128C	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	21	3629	-		Ovarian(137;0.0563)	1128					Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.3382C>T	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326499	0.60743	.	.	ENSG00000135723	ENST00000258201	T	0.57436	0.4	5.22	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.74336	0.3703	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79351	-0.1839	10	0.87932	D	0	.	12.7025	0.57041	0.0:0.0:0.8004:0.1996	.	1128	Q9Y613	FHOD1_HUMAN	C	1128	ENSP00000258201:R1128C	ENSP00000258201:R1128C	R	-	1	0	FHOD1	65821227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.383000	0.66219	1.340000	0.45581	0.655000	0.94253	CGC		0.572	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			33	50	0	0	0	1	0	33	50					A	67263726	G	A	67263726	3	1	435	1	0	0	0	0	1	0	0	0	5882	1145	40	1	120	1	FHOD1	16	67263726	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42086	67263726	23091027	6962	27887											
SLC9A5	6553	broad.mit.edu	37	chr16	67290915	67290915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggcctgcggggggctgtgGcctttgctctcgtcatccta	2	11	16	12	2	2	0	1	0	1	0	4	0	3	0	3	6	2	2	3	6	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67290915G>A	ENST00000299798.11	+	7	1299	c.1234G>A	c.(1234-1236)Gcc>Acc	p.A412T		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	412					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			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)		GGGGGCTGTGGCCTTTGCTCT	0.552																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1234-1236)Gcc>Acc		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							87	91	90					16																	67290915		2010	4190	6200	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67290915G>A		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1234G>A	16.37:g.67290915G>A	ENSP00000299798:p.Ala412Thr						p.A412T	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	7	1299	+		Ovarian(137;0.0563)	412					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.1234G>A	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918039	0.92249	.	.	ENSG00000135740	ENST00000299798	T	0.16743	2.32	5.63	5.63	0.86233	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.41627	-0.9498	10	0.87932	D	0	.	19.032	0.92961	0.0:0.0:1.0:0.0	.	412	Q14940	SL9A5_HUMAN	T	412	ENSP00000299798:A412T	ENSP00000299798:A412T	A	+	1	0	SLC9A5	65848416	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.814000	0.96858	0.655000	0.94253	GCC		0.552	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			45	75	0	0	0	1	0	45	75					A	67290915	G	A	67290915	3	1	435	1	0	0	0	0	1	0	0	0	14717	1203	42	3	1260	3	SLC9A5	16	67290915	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27189	67290915	23063838	6963	27888											
SLC9A5	6553	broad.mit.edu	37	chr16	67293842	67293842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaggcctctacaagccgcGccgtagggtgagagcaggca	9	4	16	12	4	1	1	0	1	1	1	1	3	1	2	3	4	3	3	3	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67293842G>A	ENST00000299798.11	+	12	1900	c.1835G>A	c.(1834-1836)cGc>cAc	p.R612H	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	612					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			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)		TACAAGCCGCGCCGTAGGGTG	0.597																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1834-1836)cGc>cAc		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							25	28	27					16																	67293842		2044	4188	6232	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67293842G>A		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1835G>A	16.37:g.67293842G>A	ENSP00000299798:p.Arg612His						p.R612H	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	12	1900	+		Ovarian(137;0.0563)	612					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.1835G>A	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	G	36	5.792251	0.96945	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	T	0.61040	0.14	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.80144	0.4569	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.987	T	0.81972	-0.0688	10	0.87932	D	0	.	19.3545	0.94407	0.0:0.0:1.0:0.0	.	100;612	F8WDV9;Q14940	.;SL9A5_HUMAN	H	612;100	ENSP00000299798:R612H	ENSP00000299798:R612H	R	+	2	0	SLC9A5	65851343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.605000	0.74155	2.894000	0.99253	0.655000	0.94253	CGC		0.597	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			4	19	0	0	0	1	0	4	19					A	67293842	G	A	67293842	3	1	435	1	0	0	0	0	1	0	0	0	14717	1087	38	1	1881	1	SLC9A5	16	67293842	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2927	67293842	23060911	6964	27889											
PLEKHG4	25894	broad.mit.edu	37	chr16	67314108	67314108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctccaagaccaccagccgGggccacccaggatgaggagc	10	3	12	16	1	0	2	0	1	0	1	2	4	2	4	7	4	2	0	7	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67314108G>A	ENST00000360461.5	+	1	2696	c.161G>A	c.(160-162)gGg>gAg	p.G54E	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.G54E|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.G54E|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.G54E	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	54							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		CCACCAGCCGGGGCCACCCAG	0.597																																						ENST00000360461.5																			0				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						c.(160-162)gGg>gAg		pleckstrin homology domain containing, family G (with RhoGef domain) member 4							53	57	55					16																	67314108		2198	4300	6498	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67314108G>A	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.161G>A	16.37:g.67314108G>A	ENSP00000353646:p.Gly54Glu					PLEKHG4_ENST00000450733.1_Missense_Mutation_p.G54E|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.G54E|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.G54E	p.G54E	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	1	2696	+			54					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.161G>A	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479026	0.26511	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733;ENST00000393966	T;T;T;T	0.46451	2.02;2.02;2.02;0.87	3.89	1.83	0.25207	.	.	.	.	.	T	0.51686	0.1689	M	0.64997	1.995	0.09310	N	1	D;B	0.76494	0.999;0.029	D;B	0.78314	0.991;0.026	T	0.43032	-0.9416	9	0.10636	T	0.68	.	6.3277	0.21253	0.2419:0.0:0.7581:0.0	.	54;54	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	E	54	ENSP00000353646:G54E;ENSP00000401118:G54E;ENSP00000368649:G54E;ENSP00000398030:G54E	ENSP00000353646:G54E	G	+	2	0	PLEKHG4	65871609	0.515000	0.26210	0.456000	0.27044	0.007000	0.05969	0.153000	0.16323	0.843000	0.35070	0.579000	0.79373	GGG		0.597	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		15	15	0	0	0	1	0	15	15					A	67314108	G	A	67314108	3	1	435	1	0	0	0	0	1	0	0	0	12071	1232	43	3	163	3	PLEKHG4	16	67314108	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20266	67314108	23040645	6965	27890											
KCTD19	146212	broad.mit.edu	37	chr16	67325217	67325217	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtcacacatacccacaGccgattggccagggagacca	11	5	10	15	1	1	1	1	0	0	1	1	3	1	1	5	2	2	0	5	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67325217G>A	ENST00000304372.5	-	14	2615	c.2560C>T	c.(2560-2562)Ctg>Ttg	p.L854L		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	854					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CATACCCACAGCCGATTGGCC	0.557																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(2560-2562)Ctg>Ttg		potassium channel tetramerization domain containing 19							65	66	66					16																	67325217		2015	4181	6196	SO:0001819	synonymous_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67325217G>A	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2560C>T	16.37:g.67325217G>A							p.L854L	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	14	2615	-		Ovarian(137;0.192)	854					B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	c.2560C>T	CCDS42179.1																																																																																				0.557	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		10	19	0	0	0	1	0	10	19					A	67325217	G	A	67325217	2	1	435	1	0	0	0	0	0	0	0	1	8106	962	34	3		3	KCTD19	16	67325217	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11109	67325217	23029536	6966	27891											
KCTD19	146212	broad.mit.edu	37	chr16	67327470	67327470	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccttggtcctctgcttgCtccagtccttcagggtgcca	3	14	9	15	0	3	0	1	0	2	0	7	0	6	0	5	2	3	2	5	2	0	3	rs73592842	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67327470C>A	ENST00000304372.5	-	12	2250	c.2195G>T	c.(2194-2196)aGc>aTc	p.S732I		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	732					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCTCTGCTTGCTCCAGTCCTT	0.542																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(2194-2196)aGc>aTc		potassium channel tetramerization domain containing 19							107	113	111					16																	67327470		2014	4173	6187	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67327470C>A	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2195G>T	16.37:g.67327470C>A	ENSP00000305702:p.Ser732Ile						p.S732I	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	12	2250	-		Ovarian(137;0.192)	732					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.2195G>T	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084983	0.36758	.	.	ENSG00000168676	ENST00000304372	T	0.59083	0.29	5.86	1.43	0.22495	.	0.924310	0.09123	N	0.845444	T	0.36991	0.0987	N	0.08118	0	0.21445	N	0.99968	B	0.06786	0.001	B	0.09377	0.004	T	0.32666	-0.9898	10	0.87932	D	0	-3.0649	9.1884	0.37184	0.0:0.5018:0.4198:0.0785	.	732	Q17RG1	KCD19_HUMAN	I	732	ENSP00000305702:S732I	ENSP00000305702:S732I	S	-	2	0	KCTD19	65884971	0.988000	0.35896	0.999000	0.59377	0.945000	0.59286	0.218000	0.17622	0.348000	0.23949	-0.253000	0.11424	AGC		0.542	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		26	66	1	0	1.2476e-16	1	1.37101e-16	26	66					A	67327470	C	A	67327470	3	1	435	1	0	0	0	0	1	0	0	0	8106	797	28	5	605	5	KCTD19	16	67327470	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2253	67327470	23027283	6967	27892											
ZDHHC1	29800	broad.mit.edu	37	chr16	67429019	67429019	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgccaaaagaagcagaggCgagcgccagggtagaggctt	13	4	15	9	3	0	3	0	0	0	3	1	4	0	3	2	3	2	3	2	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67429019C>T	ENST00000348579.2	-	10	1457	c.1116G>A	c.(1114-1116)tcG>tcA	p.S372S	ZDHHC1_ENST00000566075.1_Intron|TPPP3_ENST00000562206.1_5'Flank|TPPP3_ENST00000393957.2_5'Flank|TPPP3_ENST00000290942.5_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	372					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GAAGCAGAGGCGAGCGCCAGG	0.622																																						ENST00000348579.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10						c.(1114-1116)tcG>tcA		zinc finger, DHHC-type containing 1							22	25	24					16																	67429019		2197	4300	6497	SO:0001819	synonymous_variant	29800					integral to membrane	DNA binding|zinc ion binding	g.chr16:67429019C>T	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"Zinc fingers, DHHC-type"	17916	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 1"	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.1116G>A	16.37:g.67429019C>T						ZDHHC1_ENST00000566075.1_Intron	p.S372S	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN		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)	10	1457	-		Ovarian(137;0.223)	372					O15461	Silent	SNP	ENST00000348579.2	37	c.1116G>A	CCDS10836.1																																																																																				0.622	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304		4	6	0	0	0	1	0	4	6					T	67429019	C	T	67429019	2	4	435	1	0	0	0	0	0	0	0	1	17597	755	27	1		1	ZDHHC1	16	67429019	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	101549	67429019	22925734	6968	27893											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67472892	67472892	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgggtagtaatcggccacGttcttgacctgttcatagtc	8	12	10	11	3	2	1	1	1	1	0	4	1	2	1	3	2	0	4	3	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67472892G>A	ENST00000290949.3	-	6	948	c.798C>T	c.(796-798)aaC>aaT	p.N266N	ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000602876.1_Silent_p.N189N|ATP6V0D1_ENST00000540149.1_Silent_p.N307N	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	266				NV -> KL (in Ref. 1; CAA50591). {ECO:0000305}.	activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		AATCGGCCACGTTCTTGACCT	0.617																																						ENST00000290949.3																			0				large_intestine(3)|lung(3)|urinary_tract(2)	8						c.(796-798)aaC>aaT		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1							112	124	120					16																	67472892		2198	4300	6498	SO:0001819	synonymous_variant	9114				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		g.chr16:67472892G>A	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"ATPases / V-type"	13724	protein-coding gene	gene with protein product		607028	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.798C>T	16.37:g.67472892G>A						ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000540149.1_Silent_p.N307N|ATP6V0D1_ENST00000602876.1_Silent_p.N189N	p.N266N	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	6	948	-		Ovarian(137;0.0563)	266	NV -> KL (in Ref. 1; CAA50591).				P12953|Q02547	Silent	SNP	ENST00000290949.3	37	c.798C>T	CCDS10838.1																																																																																				0.617	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		58	81	0	0	0	1	0	58	81					A	67472892	G	A	67472892	2	1	435	1	0	0	0	0	0	0	0	1	1173	1136	40	1		1	ATP6V0D1	16	67472892	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43873	67472892	22881861	6969	27894											
FAM65A	79567	broad.mit.edu	37	chr16	67576292	67576292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagttcataagtccacaGactctggcccttcagaactg	11	10	7	13	0	4	2	3	0	1	2	5	2	5	2	2	1	1	1	2	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67576292G>T	ENST00000379312.3	+	13	1736	c.1615G>T	c.(1615-1617)Gac>Tac	p.D539Y	CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.D549Y|FAM65A_ENST00000422602.2_Missense_Mutation_p.D555Y|FAM65A_ENST00000540839.3_Missense_Mutation_p.D555Y|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.D535Y	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	539	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				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)		TAAGTCCACAGACTCTGGCCC	0.562																																						ENST00000540839.3																			0				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						c.(1663-1665)Gac>Tac		family with sequence similarity 65, member A							355	328	337					16																	67576292		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67576292G>T	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1615G>T	16.37:g.67576292G>T	ENSP00000368614:p.Asp539Tyr					CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.D549Y|FAM65A_ENST00000042381.4_Missense_Mutation_p.D535Y|FAM65A_ENST00000379312.3_Missense_Mutation_p.D539Y|FAM65A_ENST00000422602.2_Missense_Mutation_p.D555Y|CTD-2012K14.3_ENST00000563083.1_RNA	p.D555Y			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	14	1883	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	539			Pro-rich.		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.1663G>T	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.08|17.08	3.298136|3.298136	0.60086|0.60086	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.18502|.	2.22;2.22;2.21|.	4.8|4.8	1.7|1.7	0.24286|0.24286	.|.	0.463978|.	0.17543|.	N|.	0.170455|.	T|T	0.17408|0.17408	0.0418|0.0418	N|N	0.08118|0.08118	0|0	0.18873|0.18873	N|N	0.999987|0.999987	P;P;P;P|.	0.52842|.	0.826;0.826;0.826;0.956|.	B;B;B;P|.	0.44732|.	0.365;0.365;0.365;0.459|.	T|T	0.28776|0.28776	-1.0033|-1.0033	10|5	0.72032|.	D|.	0.01|.	-3.1105|-3.1105	7.534|7.534	0.27700|0.27700	0.3029:0.0:0.6971:0.0|0.3029:0.0:0.6971:0.0	.|.	549;555;539;555|.	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9|.	.;.;FA65A_HUMAN;.|.	Y|I	539;535;555;549|529	ENSP00000368614:D539Y;ENSP00000042381:D535Y;ENSP00000400099:D555Y|.	ENSP00000042381:D535Y|.	D|R	+|+	1|2	0|0	FAM65A|FAM65A	66133793|66133793	0.011000|0.011000	0.17503|0.17503	0.551000|0.551000	0.28230|0.28230	0.731000|0.731000	0.41821|0.41821	1.703000|1.703000	0.37846|0.37846	0.090000|0.090000	0.17273|0.17273	0.543000|0.543000	0.68304|0.68304	GAC|AGA		0.562	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		10	177	1	0	1.08611e-07	1	1.14056e-07	10	177					T	67576292	G	T	67576292	3	4	435	1	0	0	0	0	1	0	0	0	5599	942	33	5	1649	5	FAM65A	16	67576292	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	103400	67576292	22778461	6970	27895											
FAM65A	79567	broad.mit.edu	37	chr16	67577103	67577103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccctggatgactaccGtggccagtttcctgagctgc	5	10	13	13	1	0	2	0	2	0	0	1	3	1	3	4	3	4	3	4	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67577103G>A	ENST00000379312.3	+	13	2547	c.2426G>A	c.(2425-2427)cGt>cAt	p.R809H	CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.R819H|FAM65A_ENST00000422602.2_Missense_Mutation_p.R825H|FAM65A_ENST00000540839.3_Missense_Mutation_p.R825H|FAM65A_ENST00000042381.4_Missense_Mutation_p.R805H	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	809						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				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)		GATGACTACCGTGGCCAGTTT	0.657																																						ENST00000540839.3																			0				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						c.(2473-2475)cGt>cAt		family with sequence similarity 65, member A							15	13	14					16																	67577103		2197	4298	6495	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67577103G>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2426G>A	16.37:g.67577103G>A	ENSP00000368614:p.Arg809His					FAM65A_ENST00000428437.2_Missense_Mutation_p.R819H|FAM65A_ENST00000042381.4_Missense_Mutation_p.R805H|FAM65A_ENST00000379312.3_Missense_Mutation_p.R809H|FAM65A_ENST00000422602.2_Missense_Mutation_p.R825H	p.R825H			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	14	2694	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	809					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.2474G>A	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879495	0.91740	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.50813	0.73;0.73;0.73	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.67608	0.2911	M	0.65975	2.015	0.37606	D	0.920736	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.974	T	0.72587	-0.4248	10	0.62326	D	0.03	-11.5694	16.4509	0.83990	0.0:0.1309:0.8691:0.0	.	819;825;809;825	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.;.;FA65A_HUMAN;.	H	809;805;825;819	ENSP00000368614:R809H;ENSP00000042381:R805H;ENSP00000400099:R825H	ENSP00000042381:R805H	R	+	2	0	FAM65A	66134604	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	6.191000	0.72063	2.624000	0.88883	0.555000	0.69702	CGT		0.657	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		5	6	0	0	0	1	0	5	6					A	67577103	G	A	67577103	3	1	435	1	0	0	0	0	1	0	0	0	5599	1145	40	1	2460	1	FAM65A	16	67577103	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	811	67577103	22777650	6971	27896											
FAM65A	79567	broad.mit.edu	37	chr16	67579416	67579416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccaccatggaggcctacGtgactgagaccgctgaggag	9	5	14	13	2	0	3	0	3	0	1	0	6	0	5	5	3	1	1	5	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67579416G>A	ENST00000379312.3	+	18	3302	c.3181G>A	c.(3181-3183)Gtg>Atg	p.V1061M	CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.V1071M|FAM65A_ENST00000422602.2_Missense_Mutation_p.V1077M|FAM65A_ENST00000540839.3_Missense_Mutation_p.V1076M|FAM65A_ENST00000042381.4_Missense_Mutation_p.V1057M	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1061						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				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)		GGAGGCCTACGTGACTGAGAC	0.627																																						ENST00000540839.3																			0				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						c.(3226-3228)Gtg>Atg		family with sequence similarity 65, member A							57	63	61					16																	67579416		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67579416G>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.3181G>A	16.37:g.67579416G>A	ENSP00000368614:p.Val1061Met					FAM65A_ENST00000428437.2_Missense_Mutation_p.V1071M|FAM65A_ENST00000042381.4_Missense_Mutation_p.V1057M|FAM65A_ENST00000379312.3_Missense_Mutation_p.V1061M|FAM65A_ENST00000422602.2_Missense_Mutation_p.V1077M	p.V1076M			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	19	3446	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	1061					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.3226G>A	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.08|16.08	3.020510|3.020510	0.54576|0.54576	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000428437|ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	.|T;T;T	.|0.77358	.|-1.09;-1.09;-1.09	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.255793	.|0.39909	.|N	.|0.001236	T|T	0.64702|0.64702	0.2622|0.2622	L|L	0.29908|0.29908	0.895|0.895	0.28594|0.28594	N|N	0.909508|0.909508	.|P;P;P	.|0.49862	.|0.929;0.929;0.929	.|B;B;B	.|0.41036	.|0.346;0.346;0.346	T|T	0.67019|0.67019	-0.5776|-0.5776	5|10	.|0.72032	.|D	.|0.01	-13.4534|-13.4534	7.1475|7.1475	0.25591|0.25591	0.2062:0.0:0.7938:0.0|0.2062:0.0:0.7938:0.0	.|.	.|1071;1077;1061	.|B4DIM2;E9PBS3;Q6ZS17	.|.;.;FA65A_HUMAN	H|M	1050|1061;1057;1077;1071	.|ENSP00000368614:V1061M;ENSP00000042381:V1057M;ENSP00000400099:V1077M	.|ENSP00000042381:V1057M	R|V	+|+	2|1	0|0	FAM65A|FAM65A	66136917|66136917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	1.553000|1.553000	0.36255|0.36255	2.589000|2.589000	0.87451|0.87451	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.627	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		13	29	0	0	0	1	0	13	29					A	67579416	G	A	67579416	3	1	435	1	0	0	0	0	1	0	0	0	5599	1145	40	1	3235	1	FAM65A	16	67579416	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2313	67579416	22775337	6972	27897											
RLTPR	146206	broad.mit.edu	37	chr16	67681780	67681780	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccgggcactggccacCaatgccgccttcgactccac	6	6	11	18	3	0	0	0	0	0	0	2	1	1	0	6	3	1	1	6	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67681780C>A	ENST00000334583.6	+	13	1318	c.990C>A	c.(988-990)acC>acA	p.T330T	RLTPR_ENST00000545661.1_Silent_p.T330T	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	330					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CACTGGCCACCAATGCCGCCT	0.677																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(988-990)acC>acA		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							17	20	19					16																	67681780		1916	4132	6048	SO:0001819	synonymous_variant	146206							g.chr16:67681780C>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.990C>A	16.37:g.67681780C>A						RLTPR_ENST00000545661.1_Silent_p.T330T	p.T330T	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	13	1318	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	330					B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.990C>A	CCDS45513.1																																																																																				0.677	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		14	21	1	0	6.31663e-08	1	6.64488e-08	14	21					A	67681780	C	A	67681780	2	1	435	1	0	0	0	0	0	0	0	1	13394	581	21	5		5	RLTPR	16	67681780	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	102364	67681780	22672973	6973	27898											
RLTPR	146206	broad.mit.edu	37	chr16	67683981	67683981	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcttgaggaacaaccgCgcagaccctgcctcttctga	8	10	9	14	2	3	3	0	2	3	1	4	4	3	4	3	1	3	1	3	1	2	2	rs199978795		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67683981C>T	ENST00000334583.6	+	22	2440	c.2112C>T	c.(2110-2112)cgC>cgT	p.R704R	RLTPR_ENST00000545661.1_Silent_p.R668R	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	704					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGAACAACCGCGCAGACCCTG	0.597													C|||	1	0.000199681	0	0	5008	,	,		18446	0.001		0	False		,,,				2504	0					ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(2110-2112)cgC>cgT		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							69	78	75					16																	67683981		2076	4196	6272	SO:0001819	synonymous_variant	146206							g.chr16:67683981C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2112C>T	16.37:g.67683981C>T						RLTPR_ENST00000545661.1_Silent_p.R668R	p.R704R	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	22	2440	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	704					B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.2112C>T	CCDS45513.1																																																																																				0.597	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		3	12	0	0	0	1	0	3	12					T	67683981	C	T	67683981	2	4	435	1	0	0	0	0	0	0	0	1	13394	755	27	1		1	RLTPR	16	67683981	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2201	67683981	22670772	6974	27899											
RLTPR	146206	broad.mit.edu	37	chr16	67688513	67688513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccggcaggagccgacctcGctacacaagagatagcaagg	12	4	13	12	3	0	1	0	0	0	1	1	4	0	2	3	3	4	3	3	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67688513G>A	ENST00000334583.6	+	31	3828	c.3500G>A	c.(3499-3501)cGc>cAc	p.R1167H	RLTPR_ENST00000545661.1_Missense_Mutation_p.R1131H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1167					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AGCCGACCTCGCTACACAAGA	0.657																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(3499-3501)cGc>cAc		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							17	20	19					16																	67688513		2057	4192	6249	SO:0001583	missense	146206							g.chr16:67688513G>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3500G>A	16.37:g.67688513G>A	ENSP00000334958:p.Arg1167His					RLTPR_ENST00000545661.1_Missense_Mutation_p.R1131H	p.R1167H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	31	3828	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	1167					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.3500G>A	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819324	0.50633	.	.	ENSG00000159753	ENST00000334583;ENST00000398282;ENST00000545661	T;T	0.19250	2.16;2.24	5.99	4.98	0.66077	.	0.000000	0.56097	D	0.000029	T	0.23370	0.0565	N	0.24115	0.695	0.31600	N	0.652775	D;D	0.76494	0.999;0.999	P;P	0.62184	0.813;0.899	T	0.08597	-1.0714	10	0.30854	T	0.27	-12.1187	6.2875	0.21041	0.1169:0.1804:0.7027:0.0	.	1131;1167	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	H	1167;264;1131	ENSP00000334958:R1167H;ENSP00000441481:R1131H	ENSP00000334958:R1167H	R	+	2	0	RLTPR	66246014	0.948000	0.32251	0.971000	0.41717	0.025000	0.11179	1.932000	0.40143	2.840000	0.97914	0.655000	0.94253	CGC		0.657	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		14	14	0	0	0	1	0	14	14					A	67688513	G	A	67688513	3	1	435	1	0	0	0	0	1	0	0	0	13394	1087	38	1	3622	1	RLTPR	16	67688513	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4532	67688513	22666240	6975	27900											
C16orf48	84080	broad.mit.edu	37	chr16	67697373	67697373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggttctcaggcatgcgcGtgtggcctgggggcatggca	4	9	18	10	2	1	0	1	0	1	0	2	0	1	0	1	6	1	5	1	6	0	1	rs200151482		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67697373G>A	ENST00000243878.4	-	6	1151	c.830C>T	c.(829-831)aCg>aTg	p.T277M	ACD_ENST00000393919.4_5'Flank|ACD_ENST00000219251.8_5'Flank|ENKD1_ENST00000602644.1_Silent_p.H222H|ENKD1_ENST00000602409.1_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	277	Enkurin. {ECO:0000255|PROSITE- ProRule:PRU01000}.					cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											AGGCATGCGCGTGTGGCCTGG	0.697													g|||	1	0.000199681	0	0	5008	,	,		15693	0		0.001	False		,,,				2504	0					ENST00000243878.4																			0											c.(829-831)aCg>aTg		enkurin domain containing 1							37	42	40					16																	67697373		2198	4300	6498	SO:0001583	missense	84080							g.chr16:67697373G>A	BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 48"	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.830C>T	16.37:g.67697373G>A	ENSP00000243878:p.Thr277Met					ENKD1_ENST00000602644.1_Silent_p.H222H	p.T277M	NM_032140.1	NP_115516.1					6	1151	-								Q6UWD7	Missense_Mutation	SNP	ENST00000243878.4	37	c.830C>T	CCDS10844.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	19.43	3.826440	0.71143	.	.	ENSG00000124074	ENST00000243878	.	.	.	4.72	4.72	0.59763	.	0.046124	0.85682	D	0.000000	T	0.77698	0.4169	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.938	T	0.76745	-0.2846	9	0.36615	T	0.2	-15.0891	17.4698	0.87642	0.0:0.0:1.0:0.0	.	277;159	Q9H0I2;Q9H0I2-2	CP048_HUMAN;.	M	277	.	ENSP00000243878:T277M	T	-	2	0	C16orf48	66254874	1.000000	0.71417	0.952000	0.39060	0.617000	0.37484	3.023000	0.49666	2.452000	0.82932	0.556000	0.70494	ACG		0.697	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268884.1	NM_032140		22	40	0	0	0	1	0	22	40					A	67697373	G	A	67697373	3	1	435	1	0	0	0	0	1	0	0	0	1816	1145	40	1	218	1	C16orf48	16	67697373	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8860	67697373	22657380	6976	27901											
GFOD2	81577	broad.mit.edu	37	chr16	67719373	67719373	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtacctagagccttcacGgatatctgccgggtgagtgg	7	9	15	10	3	2	2	1	1	1	1	2	3	2	3	3	4	3	1	3	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67719373G>A	ENST00000268797.7	-	2	591	c.246C>T	c.(244-246)tcC>tcT	p.S82S	GFOD2_ENST00000602377.1_Intron	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	82					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GAGCCTTCACGGATATCTGCC	0.592																																						ENST00000268797.7																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(244-246)tcC>tcT		glucose-fructose oxidoreductase domain containing 2							71	64	66					16																	67719373		2198	4300	6498	SO:0001819	synonymous_variant	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67719373G>A	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.246C>T	16.37:g.67719373G>A						GFOD2_ENST00000602377.1_Intron	p.S82S	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	2	591	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	82					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Silent	SNP	ENST00000268797.7	37	c.246C>T	CCDS10845.1																																																																																				0.592	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		8	8	0	0	0	1	0	8	8					A	67719373	G	A	67719373	2	1	435	1	0	0	0	0	0	0	0	1	6344	1103	39	2		2	GFOD2	16	67719373	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22000	67719373	22635380	6977	27902											
NUTF2	10204	broad.mit.edu	37	chr16	67899124	67899124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatagaacccaactaggcGcaatttacgtaagtttccag	14	10	8	9	2	0	2	0	1	0	1	1	2	1	2	2	1	3	3	2	1	7	6	rs146730920		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67899124G>A	ENST00000219169.4	+	2	374	c.91G>A	c.(91-93)Gca>Aca	p.A31T	NUTF2_ENST00000568396.2_Missense_Mutation_p.A31T|NUTF2_ENST00000569436.2_Missense_Mutation_p.A31T	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	31	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	transporter activity (GO:0005215)	p.A31P(1)		kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		CCAACTAGGCGCAATTTACGT	0.468																																						ENST00000219169.4																			1	Substitution - Missense(1)	p.A31P(1)	lung(1)	kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(91-93)Gca>Aca		nuclear transport factor 2							73	64	67					16																	67899124		2198	4300	6498	SO:0001583	missense	10204				protein transport	cytosol|nuclear pore	protein binding|transporter activity	g.chr16:67899124G>A	U43939	CCDS10848.1	16q22.1	2008-02-05			ENSG00000102898	ENSG00000102898			13722	protein-coding gene	gene with protein product		605813				7744965, 3380696	Standard	NM_005796		Approved	NTF2, PP15	uc002eup.3	P61970	OTTHUMG00000137540	ENST00000219169.4:c.91G>A	16.37:g.67899124G>A	ENSP00000219169:p.Ala31Thr					NUTF2_ENST00000569436.2_Missense_Mutation_p.A31T|NUTF2_ENST00000568396.2_Missense_Mutation_p.A31T	p.A31T	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)	2	374	+		Ovarian(137;0.0563)	31			NTF2.		B2R4G7|P13662|Q6IB67	Missense_Mutation	SNP	ENST00000219169.4	37	c.91G>A	CCDS10848.1	.	.	.	.	.	.	.	.	.	.	G	6.933	0.541802	0.13250	.	.	ENSG00000102898	ENST00000219169	.	.	.	5.42	5.42	0.78866	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.328672	0.32244	N	0.006363	T	0.23210	0.0561	N	0.16307	0.4	0.33007	D	0.527003	P;B	0.49635	0.926;0.002	B;B	0.34536	0.185;0.001	T	0.22661	-1.0210	9	0.09338	T	0.73	0.2507	18.0088	0.89217	0.0:0.0:1.0:0.0	.	31;31	B4DEQ2;P61970	.;NTF2_HUMAN	T	31	.	ENSP00000219169:A31T	A	+	1	0	NUTF2	66456625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.913000	0.48790	2.557000	0.86248	0.555000	0.69702	GCA		0.468	NUTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268871.1			14	22	0	0	0	1	0	14	22					A	67899124	G	A	67899124	3	1	435	1	0	0	0	0	1	0	0	0	10779	1087	38	1	93	1	NUTF2	16	67899124	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	179751	67899124	22455629	6978	27903											
EDC4	23644	broad.mit.edu	37	chr16	67913871	67913871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctgtggacccctccttgaCcaggtgaggcaagggtcaga	9	7	14	11	0	1	3	1	2	0	1	2	4	2	4	4	4	1	2	4	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67913871C>T	ENST00000358933.5	+	16	2179	c.1940C>T	c.(1939-1941)aCc>aTc	p.T647I	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	647	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CCCTCCTTGACCAGGTGAGGC	0.622																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1939-1941)aCc>aTc		enhancer of mRNA decapping 4							46	42	44					16																	67913871		2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913871C>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1940C>T	16.37:g.67913871C>T	ENSP00000351811:p.Thr647Ile						p.T647I	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2179	+		Ovarian(137;0.0563)	647			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.1940C>T	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424032	0.25639	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	.	.	.	6.07	5.12	0.69794	.	0.777811	0.12928	N	0.427631	T	0.27629	0.0679	N	0.08118	0	0.26030	N	0.981755	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.19128	-1.0315	9	0.42905	T	0.14	-7.348	15.2636	0.73643	0.0:0.9324:0.0:0.0676	.	579;647	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	I	647;579	.	ENSP00000351811:T647I	T	+	2	0	EDC4	66471372	0.982000	0.34865	0.995000	0.50966	0.347000	0.29111	2.085000	0.41634	1.584000	0.49913	-0.137000	0.14449	ACC		0.622	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		9	9	0	0	0	1	0	9	9					T	67913871	C	T	67913871	3	4	435	1	0	0	0	0	1	0	0	0	4908	507	18	3	2002	3	EDC4	16	67913871	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14747	67913871	22440882	6979	27904											
EDC4	23644	broad.mit.edu	37	chr16	67914539	67914539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccaagcctcccctagccGcactcgttcccctgatgtca	7	8	6	20	2	1	1	1	1	0	0	4	1	3	1	8	0	2	2	8	0	2	2	rs151306360		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67914539G>A	ENST00000358933.5	+	18	2416	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	726					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TCCCCTAGCCGCACTCGTTCC	0.622																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(2176-2178)cGc>cAc		enhancer of mRNA decapping 4		G	HIS/ARG	0,4396		0,0,2198	168	166	167		2177	5.5	1	16	dbSNP_134	167	1,8599	1.2+/-3.3	0,1,4299	no	missense	EDC4	NM_014329.3	29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	726/1402	67914539	1,12995	2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67914539G>A	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2177G>A	16.37:g.67914539G>A	ENSP00000351811:p.Arg726His						p.R726H	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	18	2416	+		Ovarian(137;0.0563)	726					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.2177G>A	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	34	5.307039	0.95629	0.0	1.16E-4	ENSG00000038358	ENST00000358933	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	L	0.32530	0.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.67608	-0.5627	9	0.44086	T	0.13	-17.8941	18.9123	0.92490	0.0:0.0:1.0:0.0	.	726	Q6P2E9	EDC4_HUMAN	H	726	.	ENSP00000351811:R726H	R	+	2	0	EDC4	66472040	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	9.359000	0.97115	2.560000	0.86352	0.591000	0.81541	CGC		0.622	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		62	107	0	0	0	1	0	62	107					A	67914539	G	A	67914539	3	1	435	1	0	0	0	0	1	0	0	0	4908	1087	38	1	2247	1	EDC4	16	67914539	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	668	67914539	22440214	6980	27905											
PSKH1	5681	broad.mit.edu	37	chr16	67942830	67942830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcaagtcagtatgcaCacccctgccccggtcccccg	8	5	9	19	2	1	0	1	0	0	0	2	0	2	0	6	1	4	4	6	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67942830C>T	ENST00000291041.5	+	2	348	c.178C>T	c.(178-180)Cac>Tac	p.H60Y		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	60						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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)		TCAGTATGCACACCCCTGCCC	0.602																																						ENST00000291041.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12						c.(178-180)Cac>Tac		protein serine kinase H1							94	73	80					16																	67942830		2198	4300	6498	SO:0001583	missense	5681					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr16:67942830C>T	M14504	CCDS10851.1	16q22.1	2008-02-05			ENSG00000159792	ENSG00000159792			9529	protein-coding gene	gene with protein product		177015				8268911	Standard	NM_006742		Approved		uc002euv.3	P11801	OTTHUMG00000137548	ENST00000291041.5:c.178C>T	16.37:g.67942830C>T	ENSP00000291041:p.His60Tyr						p.H60Y	NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)	2	348	+		Ovarian(137;0.192)	60					Q9NY19	Missense_Mutation	SNP	ENST00000291041.5	37	c.178C>T	CCDS10851.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311415	0.23821	.	.	ENSG00000159792	ENST00000291041	T	0.68181	-0.31	5.59	1.02	0.19986	.	1.288580	0.04824	N	0.437515	T	0.55226	0.1907	L	0.36672	1.1	0.09310	N	1	B	0.17465	0.022	B	0.09377	0.004	T	0.42965	-0.9420	10	0.52906	T	0.07	-1.7101	4.9755	0.14138	0.6123:0.2086:0.0975:0.0816	.	60	P11801	KPSH1_HUMAN	Y	60	ENSP00000291041:H60Y	ENSP00000291041:H60Y	H	+	1	0	PSKH1	66500331	0.007000	0.16637	0.966000	0.40874	0.716000	0.41182	0.400000	0.20932	0.225000	0.20959	0.655000	0.94253	CAC		0.602	PSKH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268882.3	NM_006742		11	8	0	0	0	1	0	11	8					T	67942830	C	T	67942830	3	4	435	1	0	0	0	0	1	0	0	0	12664	478	17	3	180	3	PSKH1	16	67942830	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	28291	67942830	22411923	6981	27906											
PSKH1	5681	broad.mit.edu	37	chr16	67943086	67943086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgtgagtcggagctgcGtgtgctgcgtcgggtgcgtc	2	11	20	8	5	0	1	0	1	0	0	3	2	0	2	0	3	5	2	0	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67943086G>A	ENST00000291041.5	+	2	604	c.434G>A	c.(433-435)cGt>cAt	p.R145H		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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)		TCGGAGCTGCGTGTGCTGCGT	0.612																																						ENST00000291041.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12						c.(433-435)cGt>cAt		protein serine kinase H1							94	90	91					16																	67943086		2198	4300	6498	SO:0001583	missense	5681					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr16:67943086G>A	M14504	CCDS10851.1	16q22.1	2008-02-05			ENSG00000159792	ENSG00000159792			9529	protein-coding gene	gene with protein product		177015				8268911	Standard	NM_006742		Approved		uc002euv.3	P11801	OTTHUMG00000137548	ENST00000291041.5:c.434G>A	16.37:g.67943086G>A	ENSP00000291041:p.Arg145His						p.R145H	NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)	2	604	+		Ovarian(137;0.192)	145			Protein kinase.		Q9NY19	Missense_Mutation	SNP	ENST00000291041.5	37	c.434G>A	CCDS10851.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449030	0.26074	.	.	ENSG00000159792	ENST00000291041	T	0.66638	-0.22	5.21	5.21	0.72293	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.198285	0.53938	D	0.000045	T	0.57489	0.2057	L	0.39898	1.24	0.38206	D	0.940332	B	0.13145	0.007	B	0.13407	0.009	T	0.59627	-0.7419	10	0.56958	D	0.05	-8.8945	11.8202	0.52235	0.0815:0.0:0.9185:0.0	.	145	P11801	KPSH1_HUMAN	H	145	ENSP00000291041:R145H	ENSP00000291041:R145H	R	+	2	0	PSKH1	66500587	0.999000	0.42202	0.995000	0.50966	0.009000	0.06853	4.928000	0.63447	2.456000	0.83038	0.655000	0.94253	CGT		0.612	PSKH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268882.3	NM_006742		14	24	0	0	0	1	0	14	24					A	67943086	G	A	67943086	3	1	435	1	0	0	0	0	1	0	0	0	12664	1145	40	1	436	1	PSKH1	16	67943086	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	256	67943086	22411667	6982	27907											
LCAT	3931	broad.mit.edu	37	chr16	67976325	67976325	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagccccaagagagatgAagccatcaataaagcggtcc	15	4	12	10	1	1	3	1	1	0	2	2	5	2	4	4	2	3	0	4	2	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67976325A>G	ENST00000264005.5	-	5	718	c.689T>C	c.(688-690)tTc>tCc	p.F230S	CTC-479C5.17_ENST00000590594.1_lincRNA	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	230					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		AAGAGAGATGAAGCCATCAAT	0.582																																						ENST00000264005.5																			0				cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16						c.(688-690)tTc>tCc		lecithin-cholesterol acyltransferase							61	64	63					16																	67976325		2198	4300	6498	SO:0001583	missense	3931				cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	g.chr16:67976325A>G		CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.689T>C	16.37:g.67976325A>G	ENSP00000264005:p.Phe230Ser						p.F230S	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)	5	718	-		Ovarian(137;0.0563)	230					Q53XQ3	Missense_Mutation	SNP	ENST00000264005.5	37	c.689T>C	CCDS10854.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486932	0.84854	.	.	ENSG00000213398	ENST00000264005	D	0.97256	-4.31	4.99	4.99	0.66335	.	0.063246	0.64402	U	0.000006	D	0.98466	0.9489	M	0.88105	2.93	0.52099	D	0.999943	D	0.89917	1.0	D	0.91635	0.999	D	0.99334	1.0910	10	0.72032	D	0.01	-15.4662	12.683	0.56932	1.0:0.0:0.0:0.0	.	230	P04180	LCAT_HUMAN	S	230	ENSP00000264005:F230S	ENSP00000264005:F230S	F	-	2	0	LCAT	66533826	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.060000	0.71141	2.094000	0.63399	0.459000	0.35465	TTC		0.582	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3			11	16	0	0	0	1	0	11	16					G	67976325	A	G	67976325	3	3	435	1	0	0	0	0	1	0	0	0	8658	246	9	4	641	4	LCAT	16	67976325	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	33239	67976325	22378428	6983	27908											
SLC12A4	6560	broad.mit.edu	37	chr16	67980408	67980408	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagggccagcccagcaccacGgagttatgccgcatgcctcc	8	6	11	16	2	0	0	0	0	0	0	1	1	1	1	6	2	4	3	6	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67980408G>A	ENST00000316341.3	-	18	2510	c.2370C>T	c.(2368-2370)tcC>tcT	p.S790S	SLC12A4_ENST00000537830.2_Silent_p.S784S|SLC12A4_ENST00000576616.1_Silent_p.S790S|SLC12A4_ENST00000541864.2_Silent_p.S759S|SLC12A4_ENST00000422611.2_Silent_p.S792S|SLC12A4_ENST00000338335.3_Intron|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000572037.1_Silent_p.S742S|CTC-479C5.17_ENST00000590594.1_lincRNA	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	790					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGCACCACGGAGTTATGCC	0.677																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(2374-2376)tcC>tcT		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						54	54	54					16																	67980408		2198	4299	6497	SO:0001819	synonymous_variant	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67980408G>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2370C>T	16.37:g.67980408G>A						SLC12A4_ENST00000537830.2_Silent_p.S784S|SLC12A4_ENST00000576616.1_Silent_p.S790S|SLC12A4_ENST00000316341.3_Silent_p.S790S|SLC12A4_ENST00000572037.1_Silent_p.S742S|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000541864.2_Silent_p.S759S	p.S792S	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	17	2415	-		Ovarian(137;0.192)	790					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	c.2376C>T	CCDS10855.1																																																																																				0.677	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		6	25	0	0	0	1	0	6	25					A	67980408	G	A	67980408	2	1	435	1	0	0	0	0	0	0	0	1	14385	1103	39	2		2	SLC12A4	16	67980408	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4083	67980408	22374345	6984	27909											
SLC12A4	6560	broad.mit.edu	37	chr16	67986250	67986250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaatggtcccatacacacGcatattgttcaaagtggcat	14	10	8	9	1	1	0	1	0	0	0	2	1	2	0	1	2	1	3	1	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67986250G>A	ENST00000316341.3	-	7	894	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	SLC12A4_ENST00000537830.2_Missense_Mutation_p.R246C|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R252C|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R221C|SLC12A4_ENST00000422611.2_Missense_Mutation_p.R254C|SLC12A4_ENST00000338335.3_Missense_Mutation_p.R252C|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R204C	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	252					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCATACACACGCATATTGTTC	0.483																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(760-762)Cgt>Tgt		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						216	196	203					16																	67986250		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67986250G>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.754C>T	16.37:g.67986250G>A	ENSP00000318557:p.Arg252Cys					SLC12A4_ENST00000537830.2_Missense_Mutation_p.R246C|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R252C|SLC12A4_ENST00000316341.3_Missense_Mutation_p.R252C|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R204C|SLC12A4_ENST00000338335.3_Missense_Mutation_p.R252C|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R221C	p.R254C	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	6	799	-		Ovarian(137;0.192)	252					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.760C>T	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084467	0.55861	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.90844	-2.19;-2.2;-2.2;-2.74;-2.21	4.86	1.41	0.22369	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96728	0.8932	H	0.97732	4.065	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.998;0.999;1.0;1.0	D	0.97454	1.0030	10	0.87932	D	0	.	14.2567	0.66058	0.0:0.0:0.5285:0.4714	.	254;252;221;246;252;252	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	C	254;221;246;252;252	ENSP00000395983:R254C;ENSP00000438334:R221C;ENSP00000445962:R246C;ENSP00000343374:R252C;ENSP00000318557:R252C	ENSP00000318557:R252C	R	-	1	0	SLC12A4	66543751	1.000000	0.71417	0.986000	0.45419	0.567000	0.35839	2.053000	0.41326	0.529000	0.28599	0.305000	0.20034	CGT		0.483	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		19	33	0	0	0	1	0	19	33					A	67986250	G	A	67986250	3	1	435	1	0	0	0	0	1	0	0	0	14385	1087	38	1	2575	1	SLC12A4	16	67986250	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5842	67986250	22368503	6985	27910											
DPEP2	64174	broad.mit.edu	37	chr16	68024872	68024872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggataagtctaccatcatgCccaggcggttcatttctgcc	8	11	10	12	1	4	0	2	0	2	0	4	1	4	1	3	3	3	1	3	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:68024872C>T	ENST00000572888.1	-	6	1411	c.761G>A	c.(760-762)gGc>gAc	p.G254D	DPEP2_ENST00000393847.1_Missense_Mutation_p.G254D|DPEP2_ENST00000412757.2_Missense_Mutation_p.G254D			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	254					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			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)		TACCATCATGCCCAGGCGGTT	0.547																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(760-762)gGc>gAc		dipeptidase 2							111	108	109					16																	68024872		2198	4300	6498	SO:0001583	missense	64174				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	g.chr16:68024872C>T	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.761G>A	16.37:g.68024872C>T	ENSP00000458977:p.Gly254Asp					DPEP2_ENST00000393847.1_Missense_Mutation_p.G254D|DPEP2_ENST00000572888.1_Missense_Mutation_p.G254D	p.G254D			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	8	1426	-		Ovarian(137;0.192)	254					B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	c.761G>A	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	C	32	5.173833	0.94807	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.38401	1.14;1.14	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82345	-0.0503	10	0.87932	D	0	-20.5365	15.9555	0.79884	0.0:1.0:0.0:0.0	.	254;167	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	D	254;254;167	ENSP00000377430:G254D;ENSP00000412549:G254D	ENSP00000314702:G167D	G	-	2	0	DPEP2	66582373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.098000	0.76974	2.716000	0.92895	0.650000	0.86243	GGC		0.547	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		14	60	0	0	0	1	0	14	60					T	68024872	C	T	68024872	3	4	435	1	0	0	0	0	1	0	0	0	4714	739	26	3	719	3	DPEP2	16	68024872	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	38622	68024872	22329881	6986	27911											
NFATC3	4775	broad.mit.edu	37	chr16	68200917	68200917	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctctatacccgttgagtgCtgtaagtgagcttgtgatga	8	13	12	8	1	1	4	0	4	1	0	1	4	1	4	2	0	3	4	2	0	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:68200917C>A	ENST00000346183.3	+	5	1797	c.1773C>A	c.(1771-1773)tgC>tgA	p.C591*	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Splice_Site_p.C591*|NFATC3_ENST00000349223.5_Splice_Site_p.C591*|NFATC3_ENST00000329524.4_Splice_Site_p.C591*	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	591	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CCGTTGAGTGCTGTAAGTGAG	0.398																																						ENST00000349223.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.e5+1		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							218	210	213					16																	68200917		2198	4300	6498	SO:0001630	splice_region_variant	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68200917C>A	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1774+1C>A	16.37:g.68200917C>A						NFATC3_ENST00000346183.3_Splice_Site_p.C591_splice|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Splice_Site_p.C591_splice|NFATC3_ENST00000329524.4_Splice_Site_p.C591_splice	p.C591_splice	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	5	1997	+		Ovarian(137;0.0563)	591			RHD.		O75211|Q14516|Q99840|Q99841|Q99842	Splice_Site	SNP	ENST00000346183.3	37	c.1774_splice	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293187	0.80914	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	.	.	.	5.73	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9796	10.9062	0.47081	0.0:0.8571:0.0:0.1429	.	.	.	.	X	591;591;591;112	.	ENSP00000331324:C591X	C	+	3	2	NFATC3	66758418	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.677000	0.46892	1.551000	0.49450	0.655000	0.94253	TGC		0.398	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555	Nonsense_Mutation	34	59	1	0	3.21399e-22	1	3.57409e-22	34	59					A	68200917	C	A	68200917	5	1	435	1	0	0	0	0	0	0	1	0	10364	811	28	5	1791	5	NFATC3	16	68200917	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	176045	68200917	22153836	6987	27912											
PLA2G15	23659	broad.mit.edu	37	chr16	68293284	68293284	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagggctggtggaagccacGatgccacctggcgtgcagct	8	6	16	11	2	0	0	0	0	0	0	0	3	0	1	3	4	4	3	3	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:68293284G>A	ENST00000219345.5	+	6	1046	c.963G>A	c.(961-963)acG>acA	p.T321T	RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000444212.2_Silent_p.T121T|RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000413021.2_Silent_p.T227T|PLA2G15_ENST00000566188.1_3'UTR	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	321					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						TGGAAGCCACGATGCCACCTG	0.567																																						ENST00000219345.5																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						c.(961-963)acG>acA		phospholipase A2, group XV							95	80	85					16																	68293284		2198	4300	6498	SO:0001819	synonymous_variant	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68293284G>A	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"lysophospholipase 3 (lysosomal phospholipase A2)"	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.963G>A	16.37:g.68293284G>A						PLA2G15_ENST00000413021.2_Silent_p.T227T|PLA2G15_ENST00000444212.2_Silent_p.T121T|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000566188.1_3'UTR	p.T321T	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN			6	1046	+			321					B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Silent	SNP	ENST00000219345.5	37	c.963G>A	CCDS10864.1																																																																																				0.567	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		14	39	0	0	0	1	0	14	39					A	68293284	G	A	68293284	2	1	435	1	0	0	0	0	0	0	0	1	11992	1045	37	2		2	PLA2G15	16	68293284	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	92367	68293284	22061469	6988	27913											
PRMT7	54496	broad.mit.edu	37	chr16	68358611	68358611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatactaccaaggtatccGggctgccgtgagcagggtga	12	7	13	9	2	0	2	0	2	0	0	1	2	1	2	3	3	4	3	3	3	6	3	rs143219221		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:68358611G>A	ENST00000339507.5	+	5	988	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000441236.1_Intron|PRMT7_ENST00000449359.3_Intron|PRMT7_ENST00000348497.4_Missense_Mutation_p.R53Q			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	53	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			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)		CAAGGTATCCGGGCTGCCGTG	0.488																																						ENST00000339507.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20						c.(157-159)cGg>cAg		protein arginine methyltransferase 7		G	,GLN/ARG	1,4395	2.1+/-5.4	0,1,2197	105	89	95		,158	0.2	1	16	dbSNP_134	95	0,8600		0,0,4300	no	intron,missense	PRMT7	NM_001184824.1,NM_019023.2	,43	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,benign	,53/693	68358611	1,12995	2198	4300	6498	SO:0001583	missense	54496				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	g.chr16:68358611G>A	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"Protein arginine methyltransferases"	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.158G>A	16.37:g.68358611G>A	ENSP00000343103:p.Arg53Gln					PRMT7_ENST00000449359.3_Intron|PRMT7_ENST00000348497.4_Missense_Mutation_p.R53Q|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000441236.1_Intron	p.R53Q			Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	5	988	+		Ovarian(137;0.192)	53					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.158G>A	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037815	0.35989	2.27E-4	0.0	ENSG00000132600	ENST00000348497;ENST00000339507	T;T	0.22336	1.96;1.96	5.46	0.181	0.15073	.	0.285942	0.40640	N	0.001045	T	0.10680	0.0261	N	0.19112	0.55	0.22610	N	0.998939	B;B	0.23316	0.028;0.083	B;B	0.16722	0.006;0.016	T	0.31447	-0.9943	10	0.21014	T	0.42	-14.0627	8.8467	0.35174	0.3937:0.0:0.6063:0.0	.	53;53	Q9NVM4;Q9NVM4-4	ANM7_HUMAN;.	Q	53	ENSP00000345775:R53Q;ENSP00000343103:R53Q	ENSP00000343103:R53Q	R	+	2	0	PRMT7	66916112	1.000000	0.71417	0.995000	0.50966	0.205000	0.24178	3.453000	0.52978	0.034000	0.15491	-0.469000	0.05056	CGG		0.488	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		3	36	0	0	0	1	0	3	36					A	68358611	G	A	68358611	3	1	435	1	0	0	0	0	1	0	0	0	12541	1116	39	2	168	2	PRMT7	16	68358611	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	65327	68358611	21996142	6989	27914											
ZFP90	146198	broad.mit.edu	37	chr16	68591960	68591960	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggaagaatggtaccatgtCgaccctgctcagaggagctt	11	8	12	10	1	1	2	1	0	0	2	2	5	1	4	2	3	3	3	2	3	3	2	rs376978594		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:68591960C>T	ENST00000570495.1	+	3	385	c.93C>T	c.(91-93)gtC>gtT	p.V31V	ZFP90_ENST00000570884.1_3'UTR|ZFP90_ENST00000564323.1_Silent_p.V31V|ZFP90_ENST00000398253.2_Silent_p.V31V|ZFP90_ENST00000563169.2_Silent_p.V31V			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.V31V(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GGTACCATGTCGACCCTGCTC	0.478																																						ENST00000570495.1																			1	Substitution - coding silent(1)	p.V31V(1)	lung(1)	breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(91-93)gtC>gtT		ZFP90 zinc finger protein		C		0,4396		0,0,2198	142	141	141		93	2.4	0.1	16		141	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFP90	NM_133458.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		31/637	68591960	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68591960C>T	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"Zinc fingers, C2H2-type", "-"	23329	protein-coding gene	gene with protein product		609451	"zinc finger protein 90 homolog (mouse)"			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.93C>T	16.37:g.68591960C>T						ZFP90_ENST00000564323.1_Silent_p.V31V|ZFP90_ENST00000563169.2_Silent_p.V31V|ZFP90_ENST00000570884.1_3'UTR|ZFP90_ENST00000398253.2_Silent_p.V31V	p.V31V			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	3	385	+		Ovarian(137;0.192)	31			KRAB.		B2RU00|B3KVE7|Q49AD1|Q96MQ6	Silent	SNP	ENST00000570495.1	37	c.93C>T	CCDS42183.1																																																																																				0.478	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		42	64	0	0	0	1	0	42	64					T	68591960	C	T	68591960	2	4	435	1	0	0	0	0	0	0	0	1	17651	871	31	2		2	ZFP90	16	68591960	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	233349	68591960	21762793	6990	27915											
ZFP90	146198	broad.mit.edu	37	chr16	68597347	68597347	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgataaatgtagaaaagcCtttattcatagatcatcgct	14	14	7	6	1	2	3	2	1	0	2	3	3	2	3	1	0	1	2	1	0	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:68597347C>A	ENST00000570495.1	+	5	949	c.657C>A	c.(655-657)gcC>gcA	p.A219A	ZFP90_ENST00000398253.2_Silent_p.A219A|ZFP90_ENST00000563169.2_Silent_p.A219A			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	219					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GTAGAAAAGCCTTTATTCATA	0.348																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(655-657)gcC>gcA		ZFP90 zinc finger protein							61	62	61					16																	68597347		1874	4097	5971	SO:0001819	synonymous_variant	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68597347C>A	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"Zinc fingers, C2H2-type", "-"	23329	protein-coding gene	gene with protein product		609451	"zinc finger protein 90 homolog (mouse)"			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.657C>A	16.37:g.68597347C>A						RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Silent_p.A219A|ZFP90_ENST00000398253.2_Silent_p.A219A	p.A219A			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	949	+		Ovarian(137;0.192)	219					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Silent	SNP	ENST00000570495.1	37	c.657C>A	CCDS42183.1																																																																																				0.348	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		19	71	1	0	5.03518e-11	1	5.40566e-11	19	71					A	68597347	C	A	68597347	2	1	435	1	0	0	0	0	0	0	0	1	17651	668	24	5		5	ZFP90	16	68597347	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5387	68597347	21757406	6991	27916											
ZFP90	146198	broad.mit.edu	37	chr16	68597461	68597461	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaacaccatgaatgtacCgactgtgggaaaacctttct	15	9	8	9	1	1	2	0	1	1	1	1	4	1	3	3	1	3	1	3	1	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:68597461C>T	ENST00000570495.1	+	5	1063	c.771C>T	c.(769-771)acC>acT	p.T257T	ZFP90_ENST00000398253.2_Silent_p.T257T|ZFP90_ENST00000563169.2_Silent_p.T257T			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	257					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		ATGAATGTACCGACTGTGGGA	0.428																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(769-771)acC>acT		ZFP90 zinc finger protein							97	106	103					16																	68597461		2150	4272	6422	SO:0001819	synonymous_variant	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68597461C>T	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"Zinc fingers, C2H2-type", "-"	23329	protein-coding gene	gene with protein product		609451	"zinc finger protein 90 homolog (mouse)"			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.771C>T	16.37:g.68597461C>T						RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Silent_p.T257T|ZFP90_ENST00000398253.2_Silent_p.T257T	p.T257T			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	1063	+		Ovarian(137;0.192)	257					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Silent	SNP	ENST00000570495.1	37	c.771C>T	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	C	9.766	1.171500	0.21704	.	.	ENSG00000184939	ENST00000327567	.	.	.	5.7	0.634	0.17718	.	.	.	.	.	T	0.40119	0.1104	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15407	-1.0438	5	0.25751	T	0.34	-2.9245	1.6274	0.02726	0.1264:0.1457:0.2616:0.4664	.	.	.	.	L	29	.	ENSP00000329859:P29L	P	+	2	0	ZFP90	67154962	0.000000	0.05858	0.988000	0.46212	0.956000	0.61745	-1.452000	0.02385	-0.113000	0.11958	-0.295000	0.09555	CCG		0.428	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		42	64	0	0	0	1	0	42	64					T	68597461	C	T	68597461	2	4	435	1	0	0	0	0	0	0	0	1	17651	639	23	2		2	ZFP90	16	68597461	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	114	68597461	21757292	6992	27917											
ZFP90	146198	broad.mit.edu	37	chr16	68598186	68598186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagagaaaccctatcaatGtaatgtatgtgggaaagctt	14	11	11	5	0	1	1	1	0	0	1	1	4	1	3	1	2	2	3	1	2	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:68598186G>A	ENST00000570495.1	+	5	1788	c.1496G>A	c.(1495-1497)tGt>tAt	p.C499Y	ZFP90_ENST00000398253.2_Missense_Mutation_p.C499Y|ZFP90_ENST00000563169.2_Missense_Mutation_p.C499Y			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	499					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CCCTATCAATGTAATGTATGT	0.413																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1495-1497)tGt>tAt		ZFP90 zinc finger protein							82	86	85					16																	68598186		2157	4280	6437	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598186G>A	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"Zinc fingers, C2H2-type", "-"	23329	protein-coding gene	gene with protein product		609451	"zinc finger protein 90 homolog (mouse)"			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1496G>A	16.37:g.68598186G>A	ENSP00000460547:p.Cys499Tyr					RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Missense_Mutation_p.C499Y|ZFP90_ENST00000398253.2_Missense_Mutation_p.C499Y	p.C499Y			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	1788	+		Ovarian(137;0.192)	499					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.1496G>A	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770557	0.69992	.	.	ENSG00000184939	ENST00000398253	D	0.85088	-1.94	5.85	5.85	0.93711	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94968	0.8372	H	0.95224	3.64	0.51767	D	0.99993	D	0.89917	1.0	D	0.97110	1.0	D	0.95694	0.8743	9	0.87932	D	0	-7.3401	18.0364	0.89305	0.0:0.0:1.0:0.0	.	499	Q8TF47	ZFP90_HUMAN	Y	499	ENSP00000381304:C499Y	ENSP00000381304:C499Y	C	+	2	0	ZFP90	67155687	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.730000	0.98797	2.941000	0.99782	0.655000	0.94253	TGT		0.413	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		27	54	0	0	0	1	0	27	54					A	68598186	G	A	68598186	3	1	435	1	0	0	0	0	1	0	0	0	17651	1377	48	3	1510	3	ZFP90	16	68598186	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	725	68598186	21756567	6993	27918											
CDH1	999	broad.mit.edu	37	chr16	68847380	68847380	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccagtgaacaacgatggCattttgaaaacagcaaaggt	17	8	9	7	1	0	2	0	2	0	0	1	3	1	2	1	2	4	2	1	2	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:68847380C>T	ENST00000261769.5	+	9	1493	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	434	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.Y380_K440del(2)|p.?(1)		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)		ACAACGATGGCATTTTGAAAA	0.468			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"Mis, N, F, S"	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"			E		gastric	"lobular breast, gastric"		3	Deletion - In frame(2)|Unknown(1)	p.Y380_K440del(2)|p.?(1)	breast(2)|stomach(1)	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						c.(1300-1302)ggC>ggT		cadherin 1, type 1, E-cadherin (epithelial)							244	225	231					16																	68847380		2198	4300	6498	SO:0001819	synonymous_variant	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	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	g.chr16:68847380C>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"CD molecules", "Cadherins / Major cadherins"	1748	protein-coding gene	gene with protein product	"E-Cadherin"	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1302C>T	16.37:g.68847380C>T						CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron	p.G434G	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	9	1493	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	434			Cadherin 3.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Silent	SNP	ENST00000261769.5	37	c.1302C>T	CCDS10869.1																																																																																				0.468	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		59	134	0	0	0	1	0	59	134					T	68847380	C	T	68847380	2	4	435	1	0	0	0	0	0	0	0	1	3095	697	25	3		3	CDH1	16	68847380	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	249194	68847380	21507373	6994	27919											
HAS3	3038	broad.mit.edu	37	chr16	69148911	69148911	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaatctggctggggcacCtctggccgaaaaaccattgt	12	8	10	11	1	2	0	0	0	2	0	2	1	2	0	3	4	2	2	3	4	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69148911C>A	ENST00000306560.1	+	4	1560	c.1404C>A	c.(1402-1404)acC>acA	p.T468T	HAS3_ENST00000569188.1_Silent_p.T468T|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	468					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GCTGGGGCACCTCTGGCCGAA	0.527																																						ENST00000306560.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(1402-1404)acC>acA		hyaluronan synthase 3							157	144	148					16																	69148911		2198	4300	6498	SO:0001819	synonymous_variant	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69148911C>A	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1404C>A	16.37:g.69148911C>A						HAS3_ENST00000569188.1_Silent_p.T468T|HAS3_ENST00000219322.3_Intron	p.T468T	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	1560	+		Ovarian(137;0.101)	468					A8K5T5|Q8WTZ0|Q9NYP0	Silent	SNP	ENST00000306560.1	37	c.1404C>A	CCDS10871.1																																																																																				0.527	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		11	75	1	0	1.08611e-07	1	1.14056e-07	11	75					A	69148911	C	A	69148911	2	1	435	1	0	0	0	0	0	0	0	1	6963	668	24	5		5	HAS3	16	69148911	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	301531	69148911	21205842	6995	27920											
CHTF8	54921	broad.mit.edu	37	chr16	69154482	69154482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtgtttgacaaggactGcaaaaggtttctccaggtgg	10	11	14	6	0	1	1	0	1	1	0	2	3	1	2	1	4	1	3	1	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69154482G>A	ENST00000448552.2	-	4	333	c.212C>T	c.(211-213)gCa>gTa	p.A71V	CHTF8_ENST00000574807.1_5'Flank|CHTF8_ENST00000520529.1_3'UTR|CHTF8_ENST00000398235.2_Missense_Mutation_p.A71V|CHTF8_ENST00000518041.1_Intron|CHTF8_ENST00000306585.6_5'UTR|CHTF8_ENST00000519520.1_3'UTR|CHTF8_ENST00000522091.1_3'UTR|CHTF8_ENST00000523421.1_Intron	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)	71					cell cycle (GO:0007049)|DNA replication (GO:0006260)	nucleus (GO:0005634)	DNA binding (GO:0003677)										GACAAGGACTGCAAAAGGTTT	0.517																																						ENST00000448552.2																			0											c.(211-213)gCa>gTa		CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)							119	120	120					16																	69154482		1961	4154	6115	SO:0001583	missense	54921				cell cycle|DNA replication	nucleus	DNA binding	g.chr16:69154482G>A		CCDS42185.1	16q22.1	2009-01-14				ENSG00000168802			24353	protein-coding gene	gene with protein product		613202				12766176	Standard	NM_001039690		Approved	FLJ20400, CTF8, DERPC	uc002ewo.2	P0CG12		ENST00000448552.2:c.212C>T	16.37:g.69154482G>A	ENSP00000408367:p.Ala71Val					CHTF8_ENST00000518041.1_Intron|CHTF8_ENST00000306585.6_5'UTR|CHTF8_ENST00000519520.1_3'UTR|CHTF8_ENST00000523421.1_Intron|CHTF8_ENST00000520529.1_3'UTR|CHTF8_ENST00000398235.2_Missense_Mutation_p.A71V|CHTF8_ENST00000522091.1_3'UTR	p.A71V	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN			4	333	-			71					A8MYX8|Q71E72|Q8NDH8|Q8WV66|Q9NX73	Missense_Mutation	SNP	ENST00000448552.2	37	c.212C>T	CCDS42185.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.75|15.75	2.925054|2.925054	0.52759|0.52759	.|.	.|.	ENSG00000168802|ENSG00000168802	ENST00000448552;ENST00000398235|ENST00000519520;ENST00000520529	.|.	.|.	.|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	.|.	.|.	.|.	.|.	T|.	0.73760|.	0.3628|.	L|L	0.58354|0.58354	1.805|1.805	0.80722|0.80722	D|D	1|1	D|.	0.57257|.	0.979|.	P|.	0.58266|.	0.836|.	T|.	0.76454|.	-0.2953|.	8|.	0.25106|0.87932	T|D	0.35|0	.|.	18.4902|18.4902	0.90844|0.90844	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	71|.	P0CG13|.	CTF8_HUMAN|.	V|X	71|12	.|.	ENSP00000381290:A71V|ENSP00000427718:Q12X	A|Q	-|-	2|1	0|0	CHTF8|CHTF8	67711983|67711983	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.947000|0.947000	0.59692|0.59692	8.983000|8.983000	0.93477|0.93477	2.537000|2.537000	0.85549|0.85549	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.517	CHTF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376352.2	NM_017804		29	41	0	0	0	1	0	29	41					A	69154482	G	A	69154482	3	1	435	1	0	0	0	0	1	0	0	0	3415	1319	46	3	157	3	CHTF8	16	69154482	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5571	69154482	21200271	6996	27921											
CIRH1A	84916	broad.mit.edu	37	chr16	69170682	69170682	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagtgctgggctcaatggCgagattatggagtatgattt	9	15	13	4	1	1	2	1	1	0	1	1	4	1	3	0	3	1	3	0	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69170682C>T	ENST00000314423.7	+	3	420	c.243C>T	c.(241-243)ggC>ggT	p.G81G	CIRH1A_ENST00000352319.4_Silent_p.G81G|CIRH1A_ENST00000563094.1_Silent_p.G81G			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	81					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GGCTCAATGGCGAGATTATGG	0.498																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000563094.1																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(241-243)ggC>ggT		cirrhosis, autosomal recessive 1A (cirhin)							241	239	240					16																	69170682		2198	4300	6498	SO:0001819	synonymous_variant	84916					nucleolus	protein binding	g.chr16:69170682C>T	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"WD repeat domain containing"	1983	protein-coding gene	gene with protein product	"UTP4, small subunit (SSU) processome component, homolog (yeast)"	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.243C>T	16.37:g.69170682C>T						CIRH1A_ENST00000314423.7_Silent_p.G81G|CIRH1A_ENST00000352319.4_Silent_p.G81G	p.G81G			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	3	277	+			81					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Silent	SNP	ENST00000314423.7	37	c.243C>T	CCDS10872.1																																																																																				0.498	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		73	108	0	0	0	1	0	73	108					T	69170682	C	T	69170682	2	4	435	1	0	0	0	0	0	0	0	1	3434	755	27	1		1	CIRH1A	16	69170682	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16200	69170682	21184071	6997	27922											
COG8	84342	broad.mit.edu	37	chr16	69369129	69369129	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcagcctcagtgaagacGtccatgcgccgcaggtagcc	10	6	11	14	3	2	2	2	1	0	1	3	2	3	2	4	1	4	2	4	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69369129G>A	ENST00000306875.4	-	3	822	c.708C>T	c.(706-708)gaC>gaT	p.D236D	COG8_ENST00000562081.1_Silent_p.D236D|RP11-343C2.9_ENST00000563634.1_Silent_p.D111D|RP11-343C2.12_ENST00000562949.1_5'Flank	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	236					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CAGTGAAGACGTCCATGCGCC	0.557																																						ENST00000306875.4																			0				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						c.(706-708)gaC>gaT		component of oligomeric golgi complex 8							67	50	55					16																	69369129		2198	4300	6498	SO:0001819	synonymous_variant	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69369129G>A	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"Components of oligomeric golgi complex"	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.708C>T	16.37:g.69369129G>A						COG8_ENST00000562081.1_Silent_p.D236D|RP11-343C2.9_ENST00000563634.1_Silent_p.D111D	p.D236D	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN			3	822	-			236					Q0VAK2|Q8WVV6|Q9H6F8	Silent	SNP	ENST00000306875.4	37	c.708C>T	CCDS10876.1																																																																																				0.557	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		3	11	0	0	0	1	0	3	11					A	69369129	G	A	69369129	2	1	435	1	0	0	0	0	0	0	0	1	3664	1136	40	1		1	COG8	16	69369129	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	198447	69369129	20985624	6998	27923											
NIP7	51388	broad.mit.edu	37	chr16	69375508	69375508	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcgattgtggtatttcatCaagcagacattggggaatat	11	13	12	5	1	2	1	2	0	0	1	2	3	2	2	0	4	1	2	0	4	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69375508C>T	ENST00000254940.5	+	5	896	c.496C>T	c.(496-498)Caa>Taa	p.Q166*	COG8_ENST00000562081.1_5'Flank|RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000254941.6_Nonsense_Mutation_p.Q119*|COG8_ENST00000306875.4_5'Flank	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	166	C-terminal domain.|PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.				ribosome assembly (GO:0042255)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				GGTATTTCATCAAGCAGACAT	0.468																																						ENST00000254940.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(496-498)Caa>Taa		NIP7, nucleolar pre-rRNA processing protein							143	140	141					16																	69375508		2198	4300	6498	SO:0001587	stop_gained	51388				ribosome assembly	nucleolus	protein binding|RNA binding	g.chr16:69375508C>T	AB112439	CCDS10877.1, CCDS56003.1	16q22.1	2013-03-04	2013-03-04		ENSG00000132603	ENSG00000132603			24328	protein-coding gene	gene with protein product			"nuclear import 7 homolog (S. cerevisiae)"			14660641, 22195017	Standard	NM_016101		Approved	CGI-37, FLJ10296, HSPC031, KD93	uc002exa.3	Q9Y221	OTTHUMG00000137568	ENST00000254940.5:c.496C>T	16.37:g.69375508C>T	ENSP00000254940:p.Gln166*					RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000254941.6_Nonsense_Mutation_p.Q119*|RP11-343C2.9_ENST00000563634.1_Intron	p.Q166*	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN			5	896	+		Ovarian(137;0.101)	166			PUA.		B2RD04|Q9NZZ0	Nonsense_Mutation	SNP	ENST00000254940.5	37	c.496C>T	CCDS10877.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140515	0.77775	.	.	ENSG00000132603	ENST00000254940;ENST00000254941	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.9198	19.6311	0.95701	0.0:1.0:0.0:0.0	.	.	.	.	X	166;119	.	ENSP00000254940:Q166X	Q	+	1	0	NIP7	67933009	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.487000	0.81328	2.710000	0.92621	0.561000	0.74099	CAA		0.468	NIP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268947.2	NM_016101		43	54	0	0	0	1	0	43	54					T	69375508	C	T	69375508	4	4	435	1	0	0	0	0	0	1	0	0	10421	827	29	3	514	3	NIP7	16	69375508	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6379	69375508	20979245	6999	27924											
TMED6	146456	broad.mit.edu	37	chr16	69377529	69377529	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagatattgttctgcacCttttgtgtgccgtcctatga	8	16	9	8	1	1	3	0	2	1	1	2	3	2	3	3	0	2	2	3	0	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69377529C>A	ENST00000288025.3	-	4	559	c.504G>T	c.(502-504)aaG>aaT	p.K168N	RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	168					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						TGTTCTGCACCTTTTGTGTGC	0.443																																						ENST00000288025.3																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						c.(502-504)aaG>aaT		transmembrane emp24 protein transport domain containing 6							118	114	116					16																	69377529		2198	4300	6498	SO:0001583	missense	146456				transport	endoplasmic reticulum membrane|integral to membrane		g.chr16:69377529C>A	BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.504G>T	16.37:g.69377529C>A	ENSP00000288025:p.Lys168Asn					RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron	p.K168N	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN			4	559	-			168					Q6UXN5	Missense_Mutation	SNP	ENST00000288025.3	37	c.504G>T	CCDS10878.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.715717	0.30413	.	.	ENSG00000157315	ENST00000288025	T	0.19532	2.14	5.71	4.76	0.60689	GOLD (1);	0.335977	0.35179	N	0.003381	T	0.28566	0.0707	M	0.62723	1.935	0.31806	N	0.627802	P	0.51147	0.942	P	0.52386	0.697	T	0.24870	-1.0148	10	0.18276	T	0.48	-10.0791	7.8279	0.29326	0.1305:0.7314:0.0:0.1381	.	168	Q8WW62	TMED6_HUMAN	N	168	ENSP00000288025:K168N	ENSP00000288025:K168N	K	-	3	2	TMED6	67935030	0.959000	0.32827	0.134000	0.22075	0.304000	0.27724	0.612000	0.24283	1.407000	0.46875	0.561000	0.74099	AAG		0.443	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268951.1	NM_144676		49	80	1	0	6.27289e-28	1	7.01837e-28	49	80					A	69377529	C	A	69377529	3	1	435	1	0	0	0	0	1	0	0	0	16005	680	24	5	222	5	TMED6	16	69377529	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2021	69377529	20977224	7000	27925											
NFAT5	10725	broad.mit.edu	37	chr16	69726202	69726202	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttagaggcacagcagcAgttatcttcagttttatttt	10	17	8	6	0	2	1	1	0	1	1	2	1	2	1	0	1	2	6	0	1	3	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69726202A>G	ENST00000354436.2	+	12	2738	c.2420A>G	c.(2419-2421)cAg>cGg	p.Q807R	NFAT5_ENST00000349945.1_Missense_Mutation_p.Q731R|NFAT5_ENST00000566899.1_Missense_Mutation_p.Q731R|NFAT5_ENST00000567239.1_Missense_Mutation_p.Q824R|NFAT5_ENST00000432919.1_Missense_Mutation_p.Q825R|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q731R	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	807					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						GCACAGCAGCAGTTATCTTCA	0.433																																						ENST00000349945.1																			0				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						c.(2191-2193)cAg>cGg		nuclear factor of activated T-cells 5, tonicity-responsive							110	108	108					16																	69726202		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726202A>G	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2420A>G	16.37:g.69726202A>G	ENSP00000346420:p.Gln807Arg					NFAT5_ENST00000567239.1_Missense_Mutation_p.Q824R|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q731R|NFAT5_ENST00000432919.1_Missense_Mutation_p.Q825R|NFAT5_ENST00000354436.2_Missense_Mutation_p.Q807R|NFAT5_ENST00000566899.1_Missense_Mutation_p.Q731R	p.Q731R	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3744	+			807					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.2192A>G	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.169465	0.57584	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.50813	0.76;0.76;0.73;0.76	6.08	6.08	0.98989	.	0.182174	0.40222	N	0.001150	T	0.65365	0.2684	L	0.59436	1.845	0.50171	D	0.99985	D;D;D	0.60160	0.987;0.987;0.987	D;D;D	0.67725	0.953;0.953;0.953	T	0.66846	-0.5820	10	0.66056	D	0.02	-1.1033	16.6438	0.85155	1.0:0.0:0.0:0.0	.	824;807;825	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	R	825;824;731;807;731	ENSP00000396538:Q825R;ENSP00000338806:Q731R;ENSP00000346420:Q807R;ENSP00000377343:Q731R	ENSP00000338806:Q731R	Q	+	2	0	NFAT5	68283703	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.414000	0.73318	2.333000	0.79357	0.533000	0.62120	CAG		0.433	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		13	58	0	0	0	1	0	13	58					G	69726202	A	G	69726202	3	3	435	1	0	0	0	0	1	0	0	0	10360	188	7	4	2524	4	NFAT5	16	69726202	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	348673	69726202	20628551	7001	27926											
WWP2	11060	broad.mit.edu	37	chr16	69965459	69965459	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagcgtttccaggcagacGcttttcgaagattccttcca	9	12	8	12	3	1	2	1	0	0	2	5	3	4	2	3	1	1	3	3	1	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69965459G>A	ENST00000359154.2	+	15	1670	c.1569G>A	c.(1567-1569)acG>acA	p.T523T	WWP2_ENST00000448661.1_Silent_p.T523T|WWP2_ENST00000568684.1_Silent_p.T84T|WWP2_ENST00000356003.2_Silent_p.T523T|WWP2_ENST00000542271.1_Silent_p.T407T|WWP2_ENST00000544162.1_3'UTR|MIR140_ENST00000385282.1_RNA	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	523					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAGGCAGACGCTTTTCGAAG	0.507																																						ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1567-1569)acG>acA		WW domain containing E3 ubiquitin protein ligase 2							92	81	84					16																	69965459		2198	4300	6498	SO:0001819	synonymous_variant	11060				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	g.chr16:69965459G>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1569G>A	16.37:g.69965459G>A						WWP2_ENST00000356003.2_Silent_p.T523T|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Silent_p.T407T|WWP2_ENST00000568684.1_Silent_p.T84T|WWP2_ENST00000448661.1_Silent_p.T523T	p.T523T	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			15	1670	+			523					A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	c.1569G>A	CCDS10885.1																																																																																				0.507	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		46	38	0	0	0	1	0	46	38					A	69965459	G	A	69965459	2	1	435	1	0	0	0	0	0	0	0	1	17413	1074	38	1		1	WWP2	16	69965459	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	239257	69965459	20389294	7002	27927											
WWP2	11060	broad.mit.edu	37	chr16	69973026	69973026	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggatttgccgaactcatcGgtatgttttctctcgccctc	5	14	10	12	3	2	0	1	0	1	0	6	2	2	1	2	3	2	2	2	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69973026G>A	ENST00000359154.2	+	22	2541	c.2440G>A	c.(2440-2442)Ggt>Agt	p.G814S	WWP2_ENST00000448661.1_Splice_Site_p.G814S|WWP2_ENST00000568684.1_Splice_Site_p.G375S|WWP2_ENST00000356003.2_Splice_Site_p.G814S|WWP2_ENST00000542271.1_Splice_Site_p.G698S|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	814	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGAACTCATCGGTATGTTTTC	0.607																																						ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.e22+1		WW domain containing E3 ubiquitin protein ligase 2							65	54	58					16																	69973026		2197	4298	6495	SO:0001630	splice_region_variant	11060				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	g.chr16:69973026G>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2440+1G>A	16.37:g.69973026G>A						WWP2_ENST00000356003.2_Splice_Site_p.G814_splice|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Splice_Site_p.G698_splice|WWP2_ENST00000568684.1_Splice_Site_p.G375_splice|WWP2_ENST00000448661.1_Splice_Site_p.G814_splice	p.G814_splice	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			22	2541	+			814			HECT.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Splice_Site	SNP	ENST00000359154.2	37	c.2440_splice	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032306	0.75504	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.01	4.05	0.47172	HECT (4);	0.000000	0.85682	D	0.000000	T	0.59487	0.2197	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59392	-0.7463	9	.	.	.	.	13.4634	0.61239	0.0785:0.0:0.9215:0.0	.	814	O00308	WWP2_HUMAN	S	814;814;814;701;698	ENSP00000352069:G814S;ENSP00000396871:G814S;ENSP00000348283:G814S;ENSP00000445616:G698S	.	G	+	1	0	WWP2	68530527	1.000000	0.71417	0.937000	0.37676	0.112000	0.19704	9.869000	0.99810	2.339000	0.79563	0.561000	0.74099	GGT		0.607	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014	Missense_Mutation	8	5	0	0	0	1	0	8	5					A	69973026	G	A	69973026	5	1	435	1	0	0	0	0	0	0	1	0	17413	1130	39	2	2526	2	WWP2	16	69973026	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7567	69973026	20381727	7003	27928											
CLEC18A	348174	broad.mit.edu	37	chr16	69996933	69996933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcaactggaacgaccaGcgctgcaaaacccgaaaccg	13	4	9	15	4	1	0	1	0	0	0	1	3	1	1	4	1	6	2	4	1	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69996933G>T	ENST00000288040.6	+	11	1453	c.1266G>T	c.(1264-1266)caG>caT	p.Q422H	CLEC18A_ENST00000449317.2_Missense_Mutation_p.Q431H|CLEC18A_ENST00000568461.1_Missense_Mutation_p.Q422H|CLEC18A_ENST00000393701.2_Missense_Mutation_p.Q422H	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	422	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|lung(1)|skin(1)	5						GGAACGACCAGCGCTGCAAAA	0.597																																						ENST00000288040.6																			0				NS(1)|endometrium(2)|lung(1)|skin(1)	5						c.(1264-1266)caG>caT		C-type lectin domain family 18, member A							47	31	36					16																	69996933		2178	3956	6134	SO:0001583	missense	348174					extracellular region	sugar binding	g.chr16:69996933G>T	AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322		"C-type lectin domain containing"	30388	protein-coding gene	gene with protein product	"mannose receptor-like"					12975309	Standard	NM_001136214		Approved	MRCL	uc010vlo.3	A5D8T8		ENST00000288040.6:c.1266G>T	16.37:g.69996933G>T	ENSP00000288040:p.Gln422His					CLEC18A_ENST00000568461.1_Missense_Mutation_p.Q422H|CLEC18A_ENST00000393701.2_Missense_Mutation_p.Q422H|CLEC18A_ENST00000449317.2_Missense_Mutation_p.Q431H	p.Q422H	NM_001136214.1|NM_001271197.1	NP_001129686.1|NP_001258126.1	A5D8T8	CL18A_HUMAN			11	1453	+			422			C-type lectin.		A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	Missense_Mutation	SNP	ENST00000288040.6	37	c.1266G>T	CCDS10886.1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.026947	0.35797	.	.	ENSG00000157322	ENST00000393701;ENST00000449317;ENST00000288040	T;T;T	0.18502	2.21;2.21;2.21	1.77	-1.92	0.07618	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.078974	0.51477	D	0.000081	T	0.22627	0.0546	L	0.41492	1.28	0.31734	N	0.636695	D	0.67145	0.996	D	0.81914	0.995	T	0.15435	-1.0437	9	.	.	.	.	5.2171	0.15348	0.5929:0.0:0.4071:0.0	.	422	A5D8T8	CL18A_HUMAN	H	422;431;422	ENSP00000377304:Q422H;ENSP00000413990:Q431H;ENSP00000288040:Q422H	.	Q	+	3	2	CLEC18A	68554434	0.075000	0.21258	0.992000	0.48379	0.664000	0.39144	-0.868000	0.04236	-0.488000	0.06726	0.175000	0.17021	CAG		0.597	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268955.2	NM_182619		4	48	1	0	7.48243e-07	1	7.8103e-07	4	48					T	69996933	G	T	69996933	3	4	435	1	0	0	0	0	1	0	0	0	3502	962	34	5	1308	5	CLEC18A	16	69996933	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23907	69996933	20357820	7004	27929											
PDPR	55066	broad.mit.edu	37	chr16	70190674	70190674	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagagtatgagattgacatCgcgggataccgcttccaggc	10	8	14	9	3	0	3	0	2	0	2	2	6	1	4	2	3	1	2	2	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:70190674C>T	ENST00000288050.4	+	19	3489	c.2532C>T	c.(2530-2532)atC>atT	p.I844I	RP11-296I10.3_ENST00000502126.1_RNA|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000568530.1_Silent_p.I844I|PDPR_ENST00000398122.3_Silent_p.I744I|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000567046.1_Silent_p.I202I|PDPR_ENST00000542659.1_Silent_p.I189I	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	844					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		AGATTGACATCGCGGGATACC	0.542																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(2530-2532)atC>atT		pyruvate dehydrogenase phosphatase regulatory subunit							92	110	104					16																	70190674		2080	4218	6298	SO:0001819	synonymous_variant	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70190674C>T		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2532C>T	16.37:g.70190674C>T						PDPR_ENST00000568530.1_Silent_p.I844I|PDPR_ENST00000562100.1_3'UTR|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000398122.3_Silent_p.I744I|PDPR_ENST00000542659.1_Silent_p.I189I|PDPR_ENST00000567046.1_Silent_p.I202I	p.I844I	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	19	3489	+			844					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	ENST00000288050.4	37	c.2532C>T	CCDS45520.1																																																																																				0.542	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		11	52	0	0	0	1	0	11	52					T	70190674	C	T	70190674	2	4	435	1	0	0	0	0	0	0	0	1	11689	874	31	2		2	PDPR	16	70190674	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	193741	70190674	20164079	7005	27930											
DDX19B	11269	broad.mit.edu	37	chr16	70363937	70363937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgtgtaacctctacggggCcatcaccattgctcaagcca	9	10	8	14	1	3	0	2	0	1	0	3	0	3	0	4	2	4	2	4	2	3	4	rs530175934		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:70363937C>T	ENST00000288071.6	+	9	1234	c.989C>T	c.(988-990)gCc>gTc	p.A330V	DDX19B_ENST00000563206.1_Missense_Mutation_p.A335V|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000568625.1_Missense_Mutation_p.A221V|DDX19B_ENST00000355992.3_Missense_Mutation_p.A299V|DDX19B_ENST00000563392.1_Missense_Mutation_p.A221V|DDX19B_ENST00000451014.3_Missense_Mutation_p.A304V|DDX19B_ENST00000393657.2_Missense_Mutation_p.A221V|RP11-529K1.3_ENST00000567706.1_Intron	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	330	C-terminal lobe.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				CTCTACGGGGCCATCACCATT	0.577																																					Esophageal Squamous(26;382 757 1343 9728 15939)	ENST00000288071.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9						c.(988-990)gCc>gTc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B							156	125	136					16																	70363937		2198	4298	6496	SO:0001583	missense	11269				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr16:70363937C>T	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"DEAD-boxes"	2742	protein-coding gene	gene with protein product		605812	"DEAD (Asp-Glu-Ala-As) box polypeptide 19", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.989C>T	16.37:g.70363937C>T	ENSP00000288071:p.Ala330Val					DDX19B_ENST00000563392.1_Missense_Mutation_p.A221V|DDX19B_ENST00000393657.2_Missense_Mutation_p.A221V|DDX19B_ENST00000451014.3_Missense_Mutation_p.A304V|RP11-529K1.3_ENST00000567706.1_Intron|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000563206.1_Missense_Mutation_p.A335V|DDX19B_ENST00000568625.1_Missense_Mutation_p.A221V|DDX19B_ENST00000355992.3_Missense_Mutation_p.A299V	p.A330V	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN			9	1234	+		Ovarian(137;0.0694)	330			Helicase C-terminal.		B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Missense_Mutation	SNP	ENST00000288071.6	37	c.989C>T	CCDS10888.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590501	0.46214	.	.	ENSG00000157349	ENST00000451014;ENST00000355992;ENST00000393657;ENST00000288071	T;T;T;T	0.04809	3.55;3.55;3.55;3.55	5.19	5.19	0.71726	Helicase, C-terminal (1);	0.051640	0.85682	D	0.000000	T	0.04048	0.0113	N	0.10972	0.075	0.80722	D	1	B;P;B	0.35272	0.0;0.493;0.001	B;B;B	0.36845	0.002;0.234;0.0	T	0.58758	-0.7580	10	0.36615	T	0.2	-8.1379	16.2471	0.82449	0.0:1.0:0.0:0.0	.	304;299;330	E7EMK4;Q9UMR2-2;Q9UMR2	.;.;DD19B_HUMAN	V	304;299;221;330	ENSP00000392639:A304V;ENSP00000348271:A299V;ENSP00000377267:A221V;ENSP00000288071:A330V	ENSP00000288071:A330V	A	+	2	0	DDX19B	68921438	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.498000	0.66931	2.715000	0.92844	0.609000	0.83330	GCC		0.577	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3	NM_007242		40	48	0	0	0	1	0	40	48					T	70363937	C	T	70363937	3	4	435	1	0	0	0	0	1	0	0	0	4347	739	26	3	1023	3	DDX19B	16	70363937	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	173263	70363937	19990816	7006	27931											
ST3GAL2	6483	broad.mit.edu	37	chr16	70422350	70422350	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccagcacgaagctgacGttggcgggcaggttcttggc	7	7	16	11	3	1	1	0	1	1	0	1	2	1	1	1	5	2	6	1	5	1	3	rs2229570	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:70422350G>A	ENST00000393640.4	-	3	2740	c.633C>T	c.(631-633)aaC>aaT	p.N211N	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.N211N			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	211					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CGAAGCTGACGTTGGCGGGCA	0.597																																						ENST00000393640.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11						c.(631-633)aaC>aaT		ST3 beta-galactoside alpha-2,3-sialyltransferase 2		G		3,4393	6.2+/-15.9	0,3,2195	163	140	148		633	-4.8	0.9	16	dbSNP_134	148	0,8600		0,0,4300	no	coding-synonymous	ST3GAL2	NM_006927.3		0,3,6495	AA,AG,GG		0.0,0.0682,0.0231		211/351	70422350	3,12993	2198	4300	6498	SO:0001819	synonymous_variant	6483				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr16:70422350G>A	U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"Sialyltransferases"	10863	protein-coding gene	gene with protein product		607188	"sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.633C>T	16.37:g.70422350G>A						ST3GAL2_ENST00000342907.2_Silent_p.N211N|RP11-529K1.4_ENST00000566960.1_RNA	p.N211N			Q16842	SIA4B_HUMAN			3	2740	-		Ovarian(137;0.0694)	211					O00654	Silent	SNP	ENST00000393640.4	37	c.633C>T	CCDS10890.1																																																																																				0.597	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268968.1	NM_006927		39	52	0	0	0	1	0	39	52					A	70422350	G	A	70422350	2	1	435	1	0	0	0	0	0	0	0	1	15214	1136	40	1		1	ST3GAL2	16	70422350	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	58413	70422350	19932403	7007	27932											
COG4	197258	broad.mit.edu	37	chr16	70514974	70514974	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcagggccagcacctggCgcacttcagcaggggtgagg	7	5	16	13	2	1	1	1	1	0	0	2	1	2	1	3	5	2	4	3	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:70514974C>T	ENST00000288078.6	+	0	4081				COG4_ENST00000323786.5_Missense_Mutation_p.R770H	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase							cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CAGCACCTGGCGCACTTCAGC	0.597																																						ENST00000323786.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.(2308-2310)cGc>cAc		component of oligomeric golgi complex 4							49	47	48					16																	70514974		2198	4300	6498	SO:0001628	intergenic_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70514974C>T		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085		16.37:g.70514974C>T							p.R770H	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN			19	2330	-		Ovarian(137;0.0694)	766			E domain; essential for proper cell surface glycosylation.		Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.2309G>A	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	C	36	5.932068	0.97116	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000526700;ENST00000539961	T	0.52526	0.66	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.75384	0.3842	M	0.87269	2.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.968;0.995;0.954;0.998	T	0.78084	-0.2342	10	0.87932	D	0	-11.5168	20.428	0.99075	0.0:1.0:0.0:0.0	.	676;744;766;226	Q8N8L9;Q6PIW8;Q9H9E3;E9PQK0	.;.;COG4_HUMAN;.	H	770;745;226;428	ENSP00000315775:R770H	ENSP00000315775:R770H	R	-	2	0	COG4	69072475	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.541000	0.82084	2.837000	0.97791	0.655000	0.94253	CGC		0.597	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		17	33	0	0	0	1	0	17	33					T	70514974	C	T	70514974	1	4	435	0	1	0	0	0	0	0	0	0	3660	768	27	1		1	COG4	16	70514974	IGR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	92624	70514974	19839779	7008	27933											
VAC14	55697	broad.mit.edu	37	chr16	70796857	70796857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcatcatcccaatggccGtgtcactgaggtggcagttt	7	12	12	10	1	3	1	3	1	0	0	4	1	4	1	2	4	0	2	2	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:70796857G>A	ENST00000261776.5	-	11	1492	c.1232C>T	c.(1231-1233)aCg>aTg	p.T411M	VAC14-AS1_ENST00000562507.1_RNA|VAC14-AS1_ENST00000398177.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	411					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			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)				CCCAATGGCCGTGTCACTGAG	0.577																																						ENST00000261776.5																			0				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						c.(1231-1233)aCg>aTg		Vac14 homolog (S. cerevisiae)							123	93	103					16																	70796857		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70796857G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1232C>T	16.37:g.70796857G>A	ENSP00000261776:p.Thr411Met					VAC14-AS1_ENST00000562507.1_RNA|VAC14-AS1_ENST00000398177.1_RNA	p.T411M	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			11	1492	-		Ovarian(137;0.0699)	411					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.1232C>T	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625060	0.46840	.	.	ENSG00000103043	ENST00000261776	T	0.67523	-0.27	5.81	-4.85	0.03142	Armadillo-like helical (1);Armadillo-type fold (1);	0.521615	0.24831	N	0.035243	T	0.58250	0.2109	L	0.47716	1.5	0.58432	D	0.999997	B	0.13145	0.007	B	0.06405	0.002	T	0.41893	-0.9483	10	0.45353	T	0.12	-6.7186	21.2037	0.99948	0.1258:0.0:0.8742:0.0	.	411	Q08AM6	VAC14_HUMAN	M	411	ENSP00000261776:T411M	ENSP00000261776:T411M	T	-	2	0	VAC14	69354358	0.847000	0.29606	0.854000	0.33618	0.983000	0.72400	1.364000	0.34171	-0.819000	0.04323	-0.302000	0.09304	ACG		0.577	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		11	15	0	0	0	1	0	11	15					A	70796857	G	A	70796857	3	1	435	1	0	0	0	0	1	0	0	0	17108	1145	40	1	1152	1	VAC14	16	70796857	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	281883	70796857	19557896	7009	27934											
VAC14	55697	broad.mit.edu	37	chr16	70815807	70815807	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaggccaagcagggcaagAcagcagtcaggatcccggag	12	3	15	11	2	1	1	1	0	0	1	2	3	2	3	2	4	2	4	2	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:70815807A>G	ENST00000261776.5	-	8	1171	c.911T>C	c.(910-912)gTc>gCc	p.V304A		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	304					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			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)				GCAGGGCAAGACAGCAGTCAG	0.547																																						ENST00000261776.5																			0				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						c.(910-912)gTc>gCc		Vac14 homolog (S. cerevisiae)							59	56	57					16																	70815807		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70815807A>G	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.911T>C	16.37:g.70815807A>G	ENSP00000261776:p.Val304Ala						p.V304A	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			8	1171	-		Ovarian(137;0.0699)	304					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.911T>C	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.819951	0.71028	.	.	ENSG00000103043	ENST00000261776	T	0.69435	-0.4	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	M	0.86268	2.805	0.80722	D	1	B	0.32653	0.379	B	0.34722	0.188	T	0.75181	-0.3408	10	0.54805	T	0.06	-40.8823	15.727	0.77770	1.0:0.0:0.0:0.0	.	304	Q08AM6	VAC14_HUMAN	A	304	ENSP00000261776:V304A	ENSP00000261776:V304A	V	-	2	0	VAC14	69373308	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	8.939000	0.92951	2.118000	0.64928	0.533000	0.62120	GTC		0.547	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		12	23	0	0	0	1	0	12	23					G	70815807	A	G	70815807	3	3	435	1	0	0	0	0	1	0	0	0	17108	275	10	4	1485	4	VAC14	16	70815807	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	18950	70815807	19538946	7010	27935											
HYDIN	54768	broad.mit.edu	37	chr16	70867855	70867855	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttgcgtctgatacaccacGggtccaaagggaatatgttc	10	10	11	10	2	1	1	0	1	1	0	3	2	2	2	2	2	2	2	2	2	4	4	rs202133666	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:70867855G>A	ENST00000393567.2	-	79	13764	c.13614C>T	c.(13612-13614)ccC>ccT	p.P4538P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4538					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GATACACCACGGGTCCAAAGG	0.597																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(13612-13614)ccC>ccT		HYDIN, axonemal central pair apparatus protein							24	25	25					16																	70867855		2000	4154	6154	SO:0001819	synonymous_variant	54768							g.chr16:70867855G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13614C>T	16.37:g.70867855G>A							p.P4538P	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			79	13764	-		Ovarian(137;0.0654)	4538					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.13614C>T	CCDS59269.1																																																																																				0.597	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			4	10	0	0	0	1	0	4	10					A	70867855	G	A	70867855	2	1	435	1	0	0	0	0	0	0	0	1	7467	1103	39	2		2	HYDIN	16	70867855	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	52048	70867855	19486898	7011	27936											
HYDIN	54768	broad.mit.edu	37	chr16	70954766	70954766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtccttgcggcccctgcGcccacccaaggggacctggc	4	5	13	19	3	0	0	0	0	0	0	1	1	1	1	7	5	2	0	7	5	1	1	rs368364639		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:70954766G>A	ENST00000393567.2	-	46	7663	c.7513C>T	c.(7513-7515)Cgc>Tgc	p.R2505C		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2505					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGGCCCCTGCGCCCACCCAAG	0.687																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(7513-7515)Cgc>Tgc		HYDIN, axonemal central pair apparatus protein		G	CYS/ARG	0,3856		0,0,1928	16	17	16		7510	5.6	0.7	16		16	1,8209		0,1,4104	no	missense	HYDIN	NM_032821.2	180	0,1,6032	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging	2504/5121	70954766	1,12065	1928	4105	6033	SO:0001583	missense	54768							g.chr16:70954766G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.7513C>T	16.37:g.70954766G>A	ENSP00000377197:p.Arg2505Cys						p.R2505C	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			46	7663	-		Ovarian(137;0.0654)	2505					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.7513C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760501	0.69763	0.0	1.22E-4	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01159	5.25	5.59	5.59	0.84812	.	0.000000	0.33834	U	0.004514	T	0.04227	0.0117	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55140	-0.8187	10	0.66056	D	0.02	.	17.7205	0.88350	0.0:0.0:1.0:0.0	.	2504	F8WD23	.	C	2505;2504	ENSP00000377197:R2505C	ENSP00000313052:R2504C	R	-	1	0	HYDIN	69512267	0.224000	0.23674	0.675000	0.29917	0.768000	0.43524	1.986000	0.40677	2.790000	0.95986	0.609000	0.83330	CGC		0.687	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			3	9	0	0	0	1	0	3	9					A	70954766	G	A	70954766	3	1	435	1	0	0	0	0	1	0	0	0	7467	1087	38	1	8016	1	HYDIN	16	70954766	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	86911	70954766	19399987	7012	27937											
CALB2	794	broad.mit.edu	37	chr16	71423690	71423690	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccaactacagaaagagCgtcatgtccttggcagaggc	12	7	10	12	1	2	3	2	0	0	3	3	3	3	3	2	2	3	1	2	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:71423690C>T	ENST00000302628.4	+	11	815	c.738C>T	c.(736-738)agC>agT	p.S246S	CALB2_ENST00000349553.5_3'UTR	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	246	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				ACAGAAAGAGCGTCATGTCCT	0.557																																						ENST00000302628.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(736-738)agC>agT		calbindin 2							160	142	148					16																	71423690		2198	4300	6498	SO:0001819	synonymous_variant	794						calcium ion binding	g.chr16:71423690C>T	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"EF-hand domain containing"	1435	protein-coding gene	gene with protein product	"calretinin"	114051	"calbindin 2, 29kDa (calretinin)"			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.738C>T	16.37:g.71423690C>T						CALB2_ENST00000349553.5_3'UTR	p.S246S	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN			11	815	+		Ovarian(137;0.125)	246			EF-hand 6.		A8K4Y1|Q53HD2|Q96BK4	Silent	SNP	ENST00000302628.4	37	c.738C>T	CCDS10899.1																																																																																				0.557	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		62	84	0	0	0	1	0	62	84					T	71423690	C	T	71423690	2	4	435	1	0	0	0	0	0	0	0	1	2574	767	27	1		1	CALB2	16	71423690	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	468924	71423690	18931063	7013	27938											
ZNF23	7571	broad.mit.edu	37	chr16	71483185	71483185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacactgatagggcttctccCcactgtggattgtctgatgt	7	14	10	10	0	2	2	0	2	2	0	3	3	2	3	2	2	1	1	2	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:71483185C>T	ENST00000393539.2	-	6	1556	c.743G>A	c.(742-744)gGg>gAg	p.G248E	ZNF23_ENST00000428724.2_Missense_Mutation_p.G190E|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.G248E|ZNF23_ENST00000564528.1_Missense_Mutation_p.G190E|ZNF23_ENST00000417828.1_Missense_Mutation_p.G248E|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000539742.1_5'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		GGGCTTCTCCCCACTGTGGAT	0.478																																						ENST00000393539.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29						c.(742-744)gGg>gAg		zinc finger protein 23							125	112	116					16																	71483185		2198	4300	6498	SO:0001583	missense	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71483185C>T	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"Zinc fingers, C2H2-type"	13023	protein-coding gene	gene with protein product		194527	"zinc finger protein 359"	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.743G>A	16.37:g.71483185C>T	ENSP00000377171:p.Gly248Glu					ZNF23_ENST00000428724.2_Missense_Mutation_p.G190E|ZNF23_ENST00000357254.4_Missense_Mutation_p.G248E|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.G190E|ZNF23_ENST00000417828.1_Missense_Mutation_p.G248E|RP11-510M2.10_ENST00000576258.1_RNA	p.G248E	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	1556	-		Ovarian(137;0.00768)	248					Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	c.743G>A	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368620	0.61624	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	3.7	3.7	0.42460	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41605	D	0.000844	T	0.43765	0.1262	L	0.52126	1.63	0.45150	D	0.998169	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.39210	-0.9625	10	0.66056	D	0.02	-26.5127	13.7712	0.63026	0.0:1.0:0.0:0.0	.	248;248	B3KR55;P17027	.;ZNF23_HUMAN	E	248;248;248;190;190;48	ENSP00000377171:G248E;ENSP00000349796:G248E;ENSP00000395712:G248E;ENSP00000387673:G190E	ENSP00000349796:G248E	G	-	2	0	ZNF23	70040686	0.906000	0.30813	1.000000	0.80357	0.996000	0.88848	2.460000	0.45031	2.371000	0.80710	0.561000	0.74099	GGG		0.478	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		53	62	0	0	0	1	0	53	62					T	71483185	C	T	71483185	3	4	435	1	0	0	0	0	1	0	0	0	17780	623	22	3	1192	3	ZNF23	16	71483185	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	59495	71483185	18871568	7014	27939											
CHST4	10164	broad.mit.edu	37	chr16	71571390	71571390	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggccctgcaggaacgCtacctgcttgtgcgctatga	8	8	11	14	2	0	1	0	1	0	0	0	2	0	2	3	2	5	4	3	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:71571390C>A	ENST00000338482.5	+	3	1153	c.810C>A	c.(808-810)cgC>cgA	p.R270R	RP11-510M2.5_ENST00000568523.1_RNA|CHST4_ENST00000539698.3_Silent_p.R270R|CHST4_ENST00000572450.1_Silent_p.R270R|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	270					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGCAGGAACGCTACCTGCTTG	0.547											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338482.5																			0				cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(808-810)cgC>cgA		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4							96	85	89					16																	71571390		2198	4300	6498	SO:0001819	synonymous_variant	10164				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	g.chr16:71571390C>A	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"Sulfotransferases, membrane-bound"	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.810C>A	16.37:g.71571390C>A			OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1131	CHST4_ENST00000539698.3_Silent_p.R270R|CHST4_ENST00000572450.1_Silent_p.R270R|RP11-510M2.9_ENST00000572693.1_RNA|ZNF19_ENST00000568446.1_Intron	p.R270R			Q8NCG5	CHST4_HUMAN			3	1153	+			270					Q8IV46|Q9Y5R3	Silent	SNP	ENST00000338482.5	37	c.810C>A	CCDS10902.1																																																																																				0.547	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		4	42	1	0	0.014758	1	0.0148771	4	42					A	71571390	C	A	71571390	2	1	435	1	0	0	0	0	0	0	0	1	3406	784	28	5		5	CHST4	16	71571390	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	88205	71571390	18783363	7015	27940											
MARVELD3	91862	broad.mit.edu	37	chr16	71674559	71674559	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgggtgttttactccaaGgagccaagagtcgaacaatg	12	9	11	9	1	0	1	0	0	0	1	2	3	1	2	3	2	3	1	3	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:71674559G>T	ENST00000299952.4	+	3	905	c.862G>T	c.(862-864)Gga>Tga	p.G288*	MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	291	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TTTACTCCAAGGAGCCAAGAG	0.587																																						ENST00000299952.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(862-864)Gga>Tga		MARVEL domain containing 3							57	50	53					16																	71674559		2198	4300	6498	SO:0001587	stop_gained	91862					integral to membrane		g.chr16:71674559G>T	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"MARVEL (membrane-associating) domain containing 3"	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.862G>T	16.37:g.71674559G>T	ENSP00000299952:p.Gly288*					MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR|PHLPP2_ENST00000540628.1_3'UTR	p.G288*	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN			3	905	+		Ovarian(137;0.125)	291			MARVEL.		A8K820|H3BQM5|Q96MJ4	Nonsense_Mutation	SNP	ENST00000299952.4	37	c.862G>T	CCDS32478.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965629	0.74131	.	.	ENSG00000140832	ENST00000299952	.	.	.	5.79	5.79	0.91817	.	0.048480	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.3	17.535	0.87827	0.0:0.0:1.0:0.0	.	.	.	.	X	288	.	ENSP00000299952:G288X	G	+	1	0	MARVELD3	70232060	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	6.737000	0.74816	2.739000	0.93911	0.655000	0.94253	GGA		0.587	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	NM_052858		8	19	1	0	0.00307968	1	0.00311927	8	19					T	71674559	G	T	71674559	4	4	435	1	0	0	0	0	0	1	0	0	9319	1001	35	5	1487	5	MARVELD3	16	71674559	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	103169	71674559	18680194	7016	27941											
PHLPP2	23035	broad.mit.edu	37	chr16	71683234	71683234	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggggtgagttctccagatcCctccccctgcagcagtggat	6	9	13	13	0	1	2	0	1	1	1	4	3	3	3	4	3	2	3	4	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:71683234C>T	ENST00000568954.1	-	19	3909	c.3531G>A	c.(3529-3531)agG>agA	p.R1177R	PHLPP2_ENST00000356272.3_Silent_p.R1177R|PHLPP2_ENST00000567016.1_Silent_p.R1212R|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000393524.2_Silent_p.R1110R			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1177					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TCTCCAGATCCCTCCCCCTGC	0.542																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3328-3330)agG>agA		PH domain and leucine rich repeat protein phosphatase 2							74	70	72					16																	71683234		2198	4300	6498	SO:0001819	synonymous_variant	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71683234C>T	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3531G>A	16.37:g.71683234C>T						PHLPP2_ENST00000356272.3_Silent_p.R1177R|PHLPP2_ENST00000568954.1_Silent_p.R1177R|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000567016.1_Silent_p.R1212R	p.R1110R			Q6ZVD8	PHLP2_HUMAN			17	4063	-			1177					A1L374|Q9NV17|Q9Y2E3	Silent	SNP	ENST00000568954.1	37	c.3330G>A	CCDS32479.1																																																																																				0.542	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		31	40	0	0	0	1	0	31	40					T	71683234	C	T	71683234	2	4	435	1	0	0	0	0	0	0	0	1	11855	622	22	3		3	PHLPP2	16	71683234	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8675	71683234	18671519	7017	27942											
PHLPP2	23035	broad.mit.edu	37	chr16	71683419	71683419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtggaggctgcagcgccGctctggcctcggaagcaagg	6	6	18	11	3	1	0	0	0	1	0	2	2	1	2	2	6	3	4	2	6	2	0	rs566728451		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:71683419G>A	ENST00000568954.1	-	19	3724	c.3346C>T	c.(3346-3348)Cgg>Tgg	p.R1116W	PHLPP2_ENST00000356272.3_Missense_Mutation_p.R1116W|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R1151W|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000393524.2_Missense_Mutation_p.R1049W			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1116					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTGCAGCGCCGCTCTGGCCTC	0.597																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3145-3147)Cgg>Tgg		PH domain and leucine rich repeat protein phosphatase 2							49	51	50					16																	71683419		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71683419G>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3346C>T	16.37:g.71683419G>A	ENSP00000457991:p.Arg1116Trp					PHLPP2_ENST00000356272.3_Missense_Mutation_p.R1116W|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R1116W|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R1151W	p.R1049W			Q6ZVD8	PHLP2_HUMAN			17	3878	-			1116					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.3145C>T	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010640	0.54361	.	.	ENSG00000040199	ENST00000356272;ENST00000393524	T;T	0.50548	1.3;0.74	6.03	1.07	0.20283	.	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	M	0.67953	2.075	0.43919	D	0.996567	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.69921	-0.5014	10	0.72032	D	0.01	-17.1215	17.3097	0.87206	0.0:0.0:0.6598:0.3402	.	1049;1116	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	W	1116;1049	ENSP00000348611:R1116W;ENSP00000377159:R1049W	ENSP00000348611:R1116W	R	-	1	2	PHLPP2	70240920	0.951000	0.32395	0.966000	0.40874	0.907000	0.53573	1.404000	0.34623	-0.081000	0.12662	-0.182000	0.12963	CGG		0.597	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		22	37	0	0	0	1	0	22	37					A	71683419	G	A	71683419	3	1	435	1	0	0	0	0	1	0	0	0	11855	1086	38	1	629	1	PHLPP2	16	71683419	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	185	71683419	18671334	7018	27943											
PHLPP2	23035	broad.mit.edu	37	chr16	71724517	71724517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacagaggacaactaggcGctcagcccacttatgcagct	12	6	9	14	1	1	1	1	0	0	1	1	2	1	2	2	2	4	3	2	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:71724517G>A	ENST00000568954.1	-	4	892	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	PHLPP2_ENST00000356272.3_Missense_Mutation_p.R172C|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R207C|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R172C|PHLPP2_ENST00000393524.2_Missense_Mutation_p.R172C			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	172	PH.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACAACTAGGCGCTCAGCCCAC	0.468																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(514-516)Cgc>Tgc		PH domain and leucine rich repeat protein phosphatase 2							121	96	104					16																	71724517		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71724517G>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.514C>T	16.37:g.71724517G>A	ENSP00000457991:p.Arg172Cys					PHLPP2_ENST00000356272.3_Missense_Mutation_p.R172C|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R172C|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R172C|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R207C	p.R172C			Q6ZVD8	PHLP2_HUMAN			3	1247	-			172			PH.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.514C>T	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523140	0.85600	.	.	ENSG00000040199	ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.44881	0.91;0.91;0.91	5.11	5.11	0.69529	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.60508	0.2274	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.63413	-0.6643	10	0.87932	D	0	-12.7759	12.6056	0.56521	0.0:0.0:0.8344:0.1656	.	172;172	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	C	172	ENSP00000353610:R172C;ENSP00000348611:R172C;ENSP00000377159:R172C	ENSP00000348611:R172C	R	-	1	0	PHLPP2	70282018	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.527000	0.73803	2.403000	0.81681	0.655000	0.94253	CGC		0.468	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		27	40	0	0	0	1	0	27	40					A	71724517	G	A	71724517	3	1	435	1	0	0	0	0	1	0	0	0	11855	1087	38	1	3521	1	PHLPP2	16	71724517	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	41098	71724517	18630236	7019	27944											
AP1G1	164	broad.mit.edu	37	chr16	71803538	71803538	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacctacctttctgaaatgCgcaagcatgtctgggcttcg	8	11	10	12	2	2	1	0	1	2	0	3	1	2	1	2	1	3	4	2	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:71803538C>T	ENST00000299980.4	-	6	1071	c.630G>A	c.(628-630)gcG>gcA	p.A210A	AP1G1_ENST00000423132.2_Silent_p.A210A|AP1G1_ENST00000433195.2_Silent_p.A233A|AP1G1_ENST00000393512.3_Silent_p.A210A|AP1G1_ENST00000569748.1_Silent_p.A210A	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	210					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TTCTGAAATGCGCAAGCATGT	0.383																																						ENST00000299980.4																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.(628-630)gcG>gcA		adaptor-related protein complex 1, gamma 1 subunit							90	90	90					16																	71803538		2198	4300	6498	SO:0001819	synonymous_variant	164				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	g.chr16:71803538C>T	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"gamma1-adaptin"	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.630G>A	16.37:g.71803538C>T						AP1G1_ENST00000433195.2_Silent_p.A233A|AP1G1_ENST00000423132.2_Silent_p.A210A|AP1G1_ENST00000393512.3_Silent_p.A210A|AP1G1_ENST00000569748.1_Silent_p.A210A	p.A210A	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN			6	1071	-		Ovarian(137;0.125)	210					O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	ENST00000299980.4	37	c.630G>A	CCDS32480.1																																																																																				0.383	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			4	86	0	0	0	1	0	4	86					T	71803538	C	T	71803538	2	4	435	1	0	0	0	0	0	0	0	1	732	755	27	1		1	AP1G1	16	71803538	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	79021	71803538	18551215	7020	27945											
DHX38	9785	broad.mit.edu	37	chr16	72142736	72142736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacatccgcacagggatgcCctgccacttgcaccccacca	10	5	8	18	1	0	0	0	0	0	0	1	2	1	1	6	1	4	2	6	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:72142736C>A	ENST00000268482.3	+	24	3802	c.3293C>A	c.(3292-3294)cCc>cAc	p.P1098H	DHX38_ENST00000536867.1_Missense_Mutation_p.P410H	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1098					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			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)				ACAGGGATGCCCTGCCACTTG	0.547																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(3292-3294)cCc>cAc		DEAH (Asp-Glu-Ala-His) box polypeptide 38							83	64	70					16																	72142736		2198	4300	6498	SO:0001583	missense	9785				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	g.chr16:72142736C>A	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.3293C>A	16.37:g.72142736C>A	ENSP00000268482:p.Pro1098His					DHX38_ENST00000536867.1_Missense_Mutation_p.P410H	p.P1098H	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			24	3802	+		Ovarian(137;0.125)	1098					B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.3293C>A	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812521	0.90707	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.10192	3.98;2.9	5.14	5.14	0.70334	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.63910	-0.6530	10	0.72032	D	0.01	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	410;1098	B4DVG8;Q92620	.;PRP16_HUMAN	H	1098;410	ENSP00000268482:P1098H;ENSP00000437898:P410H	ENSP00000268482:P1098H	P	+	2	0	DHX38	70700237	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.097000	0.76967	2.677000	0.91161	0.655000	0.94253	CCC		0.547	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		16	20	1	0	1.67942e-08	1	1.77343e-08	16	20					A	72142736	C	A	72142736	3	1	435	1	0	0	0	0	1	0	0	0	4511	623	22	5	3383	5	DHX38	16	72142736	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	339198	72142736	18212017	7021	27946											
ZFHX3	463	broad.mit.edu	37	chr16	72828024	72828024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttgcactgtcgttatctgCgttgccctcgtctccagttg	3	15	10	13	4	2	0	0	0	2	0	5	0	2	0	2	0	3	5	2	0	1	4	rs200701402		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:72828024C>T	ENST00000268489.5	-	9	9229	c.8557G>A	c.(8557-8559)Gca>Aca	p.A2853T	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1939T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2853					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A2853T(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCGTTATCTGCGTTGCCCTCG	0.473																																						ENST00000268489.5																			1	Substitution - Missense(1)	p.A2853T(1)	large_intestine(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(8557-8559)Gca>Aca		zinc finger homeobox 3		C	THR/ALA,THR/ALA	0,4396		0,0,2198	272	224	241		5815,8557	6	1	16		241	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ZFHX3	NM_001164766.1,NM_006885.3	58,58	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	1939/2790,2853/3704	72828024	1,12995	2198	4300	6498	SO:0001583	missense	463				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	g.chr16:72828024C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8557G>A	16.37:g.72828024C>T	ENSP00000268489:p.Ala2853Thr					ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1939T	p.A2853T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	9229	-		Ovarian(137;0.13)	2853					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.8557G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671655	0.29693	0.0	1.16E-4	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73897	-0.79;-0.77	5.96	5.96	0.96718	.	0.000000	0.49916	D	0.000136	T	0.54598	0.1868	N	0.14661	0.345	0.42677	D	0.993535	P	0.48640	0.913	B	0.34038	0.174	T	0.58929	-0.7549	10	0.09590	T	0.72	.	20.4043	0.99006	0.0:1.0:0.0:0.0	.	2853	Q15911	ZFHX3_HUMAN	T	2853;1939	ENSP00000268489:A2853T;ENSP00000438926:A1939T	ENSP00000268489:A2853T	A	-	1	0	ZFHX3	71385525	0.993000	0.37304	0.991000	0.47740	0.882000	0.50991	3.289000	0.51747	2.823000	0.97156	0.650000	0.86243	GCA		0.473	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		55	66	0	0	0	1	0	55	66					T	72828024	C	T	72828024	3	4	435	1	0	0	0	0	1	0	0	0	17631	768	27	1	2562	1	ZFHX3	16	72828024	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	685288	72828024	17526729	7022	27947											
ZFHX3	463	broad.mit.edu	37	chr16	72923683	72923683	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctgccccaggtcctcgTcctcctctggaaggcccttc	5	10	9	17	1	2	1	0	0	2	1	7	2	5	2	6	3	1	0	6	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:72923683T>C	ENST00000268489.5	-	4	4067	c.3395A>G	c.(3394-3396)gAc>gGc	p.D1132G	ZFHX3_ENST00000397992.5_Missense_Mutation_p.D218G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1132					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			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)				CAGGTCCTCGTCCTCCTCTGG	0.637																																						ENST00000268489.5																			0				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						c.(3394-3396)gAc>gGc		zinc finger homeobox 3							59	52	55					16																	72923683		2198	4300	6498	SO:0001583	missense	463				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	g.chr16:72923683T>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3395A>G	16.37:g.72923683T>C	ENSP00000268489:p.Asp1132Gly					ZFHX3_ENST00000397992.5_Missense_Mutation_p.D218G	p.D1132G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			4	4067	-		Ovarian(137;0.13)	1132					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.3395A>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714476	0.48622	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.47869	0.83;0.83	5.41	5.41	0.78517	.	0.120271	0.36066	N	0.002808	T	0.25606	0.0623	N	0.02011	-0.69	0.50313	D	0.999863	B	0.17465	0.022	B	0.15484	0.013	T	0.12016	-1.0564	10	0.56958	D	0.05	.	15.7116	0.77631	0.0:0.0:0.0:1.0	.	1132	Q15911	ZFHX3_HUMAN	G	1132;218	ENSP00000268489:D1132G;ENSP00000438926:D218G	ENSP00000268489:D1132G	D	-	2	0	ZFHX3	71481184	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.641000	0.83368	2.178000	0.69098	0.418000	0.28097	GAC		0.637	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		13	17	0	0	0	1	0	13	17					C	72923683	T	C	72923683	3	2	435	1	0	0	0	0	1	0	0	0	17631	1667	58	4	7744	4	ZFHX3	16	72923683	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	95659	72923683	17431070	7023	27948											
ZFHX3	463	broad.mit.edu	37	chr16	72993051	72993051	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttacaaggggttccttgtCtttgccgatcccttggatga	7	14	10	10	1	1	1	0	1	1	0	3	3	3	2	3	3	2	1	3	3	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:72993051C>A	ENST00000268489.5	-	2	1666	c.994G>T	c.(994-996)Gac>Tac	p.D332Y	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	332					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			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)				GGTTCCTTGTCTTTGCCGATC	0.463																																						ENST00000268489.5																			0				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						c.(994-996)Gac>Tac		zinc finger homeobox 3							72	73	73					16																	72993051		2198	4300	6498	SO:0001583	missense	463				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	g.chr16:72993051C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.994G>T	16.37:g.72993051C>A	ENSP00000268489:p.Asp332Tyr					ZFHX3_ENST00000397992.5_Intron	p.D332Y	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	1666	-		Ovarian(137;0.13)	332					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.994G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890388	0.33348	.	.	ENSG00000140836	ENST00000268489	T	0.80123	-1.34	4.92	4.92	0.64577	.	0.000000	0.51477	D	0.000088	D	0.88983	0.6586	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90031	0.4135	10	0.72032	D	0.01	.	18.4761	0.90793	0.0:1.0:0.0:0.0	.	332	Q15911	ZFHX3_HUMAN	Y	332	ENSP00000268489:D332Y	ENSP00000268489:D332Y	D	-	1	0	ZFHX3	71550552	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.395000	0.79876	2.448000	0.82819	0.591000	0.81541	GAC		0.463	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		19	69	1	0	0.000175454	1	0.00017952	19	69					A	72993051	C	A	72993051	3	1	435	1	0	0	0	0	1	0	0	0	17631	913	32	5	10153	5	ZFHX3	16	72993051	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	69368	72993051	17361702	7024	27949											
PSMD7	5713	broad.mit.edu	37	chr16	74334038	74334038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggttggaaaccagaagCgtgttgttggtgtgcttttg	8	13	15	5	1	0	1	0	0	0	1	0	2	0	2	1	3	3	5	1	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:74334038C>T	ENST00000219313.4	+	2	240	c.100C>T	c.(100-102)Cgt>Tgt	p.R34C	PSMD7_ENST00000568615.2_Missense_Mutation_p.R34C|PSMD7_ENST00000567958.1_Missense_Mutation_p.R34C|PSMD7_ENST00000540379.1_5'UTR	NM_002811.4	NP_002802.2	P51665	PSMD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	34	MPN.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						AAACCAGAAGCGTGTTGTTGG	0.413																																						ENST00000219313.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						c.(100-102)Cgt>Tgt		proteasome (prosome, macropain) 26S subunit, non-ATPase, 7							139	116	124					16																	74334038		2198	4300	6498	SO:0001583	missense	5713				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	g.chr16:74334038C>T	D50063	CCDS10910.1	16q22.3	2010-10-15	2007-07-06		ENSG00000103035	ENSG00000103035		"Proteasome (prosome, macropain) subunits"	9565	protein-coding gene	gene with protein product	"Mov34 homolog"	157970	"proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)"			7755639	Standard	NM_002811		Approved	S12, P40, MOV34, Rpn8	uc002fcq.3	P51665	OTTHUMG00000137601	ENST00000219313.4:c.100C>T	16.37:g.74334038C>T	ENSP00000219313:p.Arg34Cys					PSMD7_ENST00000567958.1_Missense_Mutation_p.R34C|PSMD7_ENST00000568615.2_Missense_Mutation_p.R34C|PSMD7_ENST00000540379.1_5'UTR	p.R34C	NM_002811.4	NP_002802.2	P51665	PSD7_HUMAN			2	240	+			34			MPN.		D3DWS9|Q6PKI2|Q96E97	Missense_Mutation	SNP	ENST00000219313.4	37	c.100C>T	CCDS10910.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242519	0.95272	.	.	ENSG00000103035	ENST00000219313	T	0.58506	0.33	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.85982	0.5824	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.90797	0.4691	10	0.87932	D	0	-9.5475	19.8109	0.96545	0.0:1.0:0.0:0.0	.	34	P51665	PSD7_HUMAN	C	34	ENSP00000219313:R34C	ENSP00000219313:R34C	R	+	1	0	PSMD7	72891539	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	7.761000	0.85260	2.691000	0.91804	0.591000	0.81541	CGT		0.413	PSMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269010.2	NM_002811		20	29	0	0	0	1	0	20	29					T	74334038	C	T	74334038	3	4	435	1	0	0	0	0	1	0	0	0	12703	768	27	1	106	1	PSMD7	16	74334038	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1340987	74334038	16020715	7025	27950											
CLEC18B	497190	broad.mit.edu	37	chr16	74443485	74443485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtttcgggttttgcagcgCtggtcgttccagttgaaggc	4	13	15	9	4	0	1	0	1	0	0	3	1	1	1	1	4	2	6	1	4	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:74443485C>A	ENST00000339953.5	-	12	1414	c.1293G>T	c.(1291-1293)caG>caT	p.Q431H		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	431	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTTTGCAGCGCTGGTCGTTCC	0.597																																						ENST00000339953.5																			0				endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1291-1293)caG>caT		C-type lectin domain family 18, member B							63	60	61					16																	74443485		2196	4292	6488	SO:0001583	missense	497190					extracellular region	sugar binding	g.chr16:74443485C>A	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"C-type lectin domain containing"	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.1293G>T	16.37:g.74443485C>A	ENSP00000341051:p.Gln431His						p.Q431H	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			12	1414	-			431			C-type lectin.		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	c.1293G>T	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	c	16.04	3.009725	0.54361	.	.	ENSG00000140839	ENST00000429489;ENST00000339953	T	0.18502	2.21	3.64	-6.24	0.02046	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.078974	0.51477	D	0.000081	T	0.24509	0.0594	L	0.35793	1.09	0.31915	N	0.614181	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.09751	-1.0660	10	0.56958	D	0.05	.	13.3519	0.60607	0.0:0.7967:0.0:0.2033	.	422;431	C9JSV1;Q6UXF7	.;CL18B_HUMAN	H	422;431	ENSP00000341051:Q431H	ENSP00000341051:Q431H	Q	-	3	2	CLEC18B	73000986	0.005000	0.15991	0.918000	0.36340	0.945000	0.59286	-1.564000	0.02152	-1.501000	0.01817	-0.451000	0.05528	CAG		0.597	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		11	71	1	0	0.0332995	1	0.0334892	11	71					A	74443485	C	A	74443485	3	1	435	1	0	0	0	0	1	0	0	0	3503	796	28	5	82	5	CLEC18B	16	74443485	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	109447	74443485	15911268	7026	27951											
CLEC18B	497190	broad.mit.edu	37	chr16	74444924	74444924	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatctgggccagcaccccGcctttcctctgtaaccccac	6	10	7	18	1	2	1	0	1	2	0	3	1	3	1	7	1	2	2	7	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:74444924G>A	ENST00000339953.5	-	9	1114	c.993C>T	c.(991-993)ggC>ggT	p.G331G		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	331	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCAGCACCCCGCCTTTCCTCT	0.617																																						ENST00000339953.5																			0				endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(991-993)ggC>ggT		C-type lectin domain family 18, member B							63	72	69					16																	74444924		2189	4247	6436	SO:0001819	synonymous_variant	497190					extracellular region	sugar binding	g.chr16:74444924G>A	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"C-type lectin domain containing"	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.993C>T	16.37:g.74444924G>A							p.G331G	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			9	1114	-			331			C-type lectin.		B4DF90	Silent	SNP	ENST00000339953.5	37	c.993C>T	CCDS32484.1																																																																																				0.617	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		9	78	0	0	0	1	0	9	78					A	74444924	G	A	74444924	2	1	435	1	0	0	0	0	0	0	0	1	3503	1074	38	1		1	CLEC18B	16	74444924	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1439	74444924	15909829	7027	27952											
CLEC18B	497190	broad.mit.edu	37	chr16	74446757	74446757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggttctggcagctcatgCgacaaggattcctggggacc	8	9	13	11	1	2	0	1	0	1	0	3	3	3	2	2	5	2	3	2	5	1	2	rs139377062	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:74446757C>T	ENST00000339953.5	-	6	819	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	233	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCAGCTCATGCGACAAGGATT	0.627																																						ENST00000339953.5																			0				endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(697-699)cGc>cAc		C-type lectin domain family 18, member B		G	HIS/ARG	29,4367		0,29,2169	74	83	80		698	2.2	1	16	dbSNP_134	80	1,8593		0,1,4296	no	missense	CLEC18B	NM_001011880.2	29	0,30,6465	TT,TC,CC		0.0116,0.6597,0.2309	probably-damaging	233/456	74446757	30,12960	2198	4297	6495	SO:0001583	missense	497190					extracellular region	sugar binding	g.chr16:74446757C>T	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"C-type lectin domain containing"	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.698G>A	16.37:g.74446757C>T	ENSP00000341051:p.Arg233His						p.R233H	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			6	819	-			233			EGF-like.		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	c.698G>A	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	g	13.22	2.173043	0.38413	0.006597	1.16E-4	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492;ENST00000425714	T	0.23552	1.9	3.14	2.17	0.27698	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	L	0.51422	1.61	0.37331	D	0.909957	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.998;0.998	T	0.19647	-1.0299	10	0.41790	T	0.15	.	8.3784	0.32457	0.0:0.7564:0.2436:0.0	.	153;233;233	Q6UXF7-2;C9JSV1;Q6UXF7	.;.;CL18B_HUMAN	H	233;233;233;153	ENSP00000341051:R233H	ENSP00000268492:R233H	R	-	2	0	CLEC18B	73004258	1.000000	0.71417	0.998000	0.56505	0.031000	0.12232	4.463000	0.60128	0.658000	0.30925	-0.464000	0.05259	CGC		0.627	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		13	120	0	0	0	1	0	13	120					T	74446757	C	T	74446757	3	4	435	1	0	0	0	0	1	0	0	0	3503	768	27	1	701	1	CLEC18B	16	74446757	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1833	74446757	15907996	7028	27953											
MLKL	197259	broad.mit.edu	37	chr16	74708871	74708871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accctaccatccacagagggCcgcacagagggatcatgggc	11	4	12	14	1	1	2	1	0	0	2	2	3	2	3	4	3	1	1	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:74708871C>T	ENST00000308807.7	-	10	1831	c.1368G>A	c.(1366-1368)cgG>cgA	p.R456R	MLKL_ENST00000306247.7_Silent_p.R248R	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CCACAGAGGGCCGCACAGAGG	0.547																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.(1366-1368)cgG>cgA		mixed lineage kinase domain-like							54	54	54					16																	74708871		2198	4300	6498	SO:0001819	synonymous_variant	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74708871C>T	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.1368G>A	16.37:g.74708871C>T						MLKL_ENST00000306247.7_Silent_p.R248R	p.R456R	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			10	1831	-			456			Protein kinase.			Silent	SNP	ENST00000308807.7	37	c.1368G>A	CCDS32487.1																																																																																				0.547	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		9	19	0	0	0	1	0	9	19					T	74708871	C	T	74708871	2	4	435	1	0	0	0	0	0	0	0	1	9619	726	26	3		3	MLKL	16	74708871	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	262114	74708871	15645882	7029	27954											
MLKL	197259	broad.mit.edu	37	chr16	74708915	74708915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactcatcaatgatctcccGcagctctgaagggcagtctt	9	10	9	13	1	5	2	2	2	3	0	6	2	5	2	1	1	1	4	1	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:74708915G>A	ENST00000308807.7	-	10	1787	c.1324C>T	c.(1324-1326)Cgg>Tgg	p.R442W	MLKL_ENST00000306247.7_Missense_Mutation_p.R234W	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						ATGATCTCCCGCAGCTCTGAA	0.552																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.(1324-1326)Cgg>Tgg		mixed lineage kinase domain-like							56	57	57					16																	74708915		2198	4300	6498	SO:0001583	missense	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74708915G>A	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.1324C>T	16.37:g.74708915G>A	ENSP00000308351:p.Arg442Trp					MLKL_ENST00000306247.7_Missense_Mutation_p.R234W	p.R442W	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			10	1787	-			442			Protein kinase.			Missense_Mutation	SNP	ENST00000308807.7	37	c.1324C>T	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272218	0.40194	.	.	ENSG00000168404	ENST00000308807;ENST00000306247	D;T	0.82984	-1.67;0.89	4.83	1.5	0.22942	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.109350	0.06659	N	0.764140	D	0.87779	0.6263	L	0.61387	1.9	0.28961	N	0.889833	D;D	0.76494	0.998;0.999	P;D	0.63793	0.666;0.918	T	0.74887	-0.3511	10	0.87932	D	0	-2.8752	6.9426	0.24500	0.0:0.1726:0.4719:0.3555	.	234;442	Q8NB16-2;Q8NB16	.;MLKL_HUMAN	W	442;234	ENSP00000308351:R442W;ENSP00000303118:R234W	ENSP00000303118:R234W	R	-	1	2	MLKL	73266416	0.858000	0.29795	0.606000	0.28943	0.102000	0.19082	0.174000	0.16743	0.701000	0.31803	0.393000	0.25936	CGG		0.552	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		12	31	0	0	0	1	0	12	31					A	74708915	G	A	74708915	3	1	435	1	0	0	0	0	1	0	0	0	9619	1086	38	1	99	1	MLKL	16	74708915	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44	74708915	15645838	7030	27955											
WDR59	79726	broad.mit.edu	37	chr16	74950052	74950052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccccatggcttgcagtgtGctggtgatctgtatcttcag	5	14	11	11	0	3	1	1	1	2	0	4	1	4	1	2	2	2	4	2	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:74950052G>A	ENST00000262144.6	-	12	1202	c.1072C>T	c.(1072-1074)Cac>Tac	p.H358Y		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	358										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CTTGCAGTGTGCTGGTGATCT	0.473																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(1072-1074)Cac>Tac		WD repeat domain 59							167	133	144					16																	74950052		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74950052G>A	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1072C>T	16.37:g.74950052G>A	ENSP00000262144:p.His358Tyr						p.H358Y	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			12	1202	-			358					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.1072C>T	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	G	4.983	0.182475	0.09495	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.71103	-0.54	5.55	5.55	0.83447	.	0.384241	0.31922	N	0.006855	T	0.56411	0.1983	N	0.24115	0.695	0.42602	D	0.993281	B;B	0.13594	0.008;0.001	B;B	0.13407	0.009;0.004	T	0.55244	-0.8171	10	0.02654	T	1	-18.9097	19.8667	0.96806	0.0:0.0:1.0:0.0	.	358;358	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	Y	358;337	ENSP00000262144:H358Y	ENSP00000262144:H358Y	H	-	1	0	WDR59	73507553	1.000000	0.71417	0.999000	0.59377	0.546000	0.35178	6.103000	0.71492	2.773000	0.95371	0.655000	0.94253	CAC		0.473	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		23	30	0	0	0	1	0	23	30					A	74950052	G	A	74950052	3	1	435	1	0	0	0	0	1	0	0	0	17305	1319	46	3	1912	3	WDR59	16	74950052	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	241137	74950052	15404701	7031	27956											
BCAR1	9564	broad.mit.edu	37	chr16	75263755	75263755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacggcgttggtcagtgtgGtcaggttggcctcacactgc	5	10	14	12	2	3	0	3	0	0	0	3	0	3	0	2	5	1	2	2	5	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:75263755G>A	ENST00000162330.5	-	7	2393	c.2267C>T	c.(2266-2268)aCc>aTc	p.T756I	BCAR1_ENST00000538440.2_Missense_Mutation_p.T756I|BCAR1_ENST00000393420.6_Missense_Mutation_p.T774I|BCAR1_ENST00000420641.3_Missense_Mutation_p.T774I|BCAR1_ENST00000418647.3_Missense_Mutation_p.T802I|BCAR1_ENST00000542031.2_Missense_Mutation_p.T754I|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000546196.1_Missense_Mutation_p.T727I|BCAR1_ENST00000393422.2_Missense_Mutation_p.T774I|BCAR1_ENST00000535626.2_Missense_Mutation_p.T608I|BCAR1_ENST00000566982.1_5'UTR	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	756	Divergent helix-loop-helix motif.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTCAGTGTGGTCAGGTTGGC	0.667																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(2179-2181)aCc>aTc		breast cancer anti-estrogen resistance 1							78	72	74					16																	75263755		2198	4300	6498	SO:0001583	missense	9564				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	g.chr16:75263755G>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2267C>T	16.37:g.75263755G>A	ENSP00000162330:p.Thr756Ile					BCAR1_ENST00000393420.6_Missense_Mutation_p.T774I|BCAR1_ENST00000542031.2_Missense_Mutation_p.T754I|BCAR1_ENST00000538440.2_Missense_Mutation_p.T756I|BCAR1_ENST00000420641.3_Missense_Mutation_p.T774I|BCAR1_ENST00000535626.2_Missense_Mutation_p.T608I|BCAR1_ENST00000393422.2_Missense_Mutation_p.T774I|BCAR1_ENST00000418647.3_Missense_Mutation_p.T802I|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000162330.5_Missense_Mutation_p.T756I	p.T727I			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	3832	-			756					B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.2180C>T	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714075	0.30413	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	4.69	4.69	0.59074	CAS family, DUF3513 (1);	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	L	0.29908	0.895	0.58432	D	0.999997	D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;0.998;0.997;0.997;0.998;1.0;0.998;1.0	D;D;D;D;D;D;D;D;D	0.85130	0.991;0.995;0.991;0.984;0.984;0.991;0.995;0.991;0.997	T	0.07158	-1.0787	10	0.24483	T	0.36	-43.9065	16.5844	0.84724	0.0:0.0:1.0:0.0	.	774;608;802;754;774;774;756;756;546	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	I	756;774;774;756;802;608;774;754;727	ENSP00000162330:T756I;ENSP00000377074:T774I;ENSP00000392708:T774I;ENSP00000443841:T756I;ENSP00000391669:T802I;ENSP00000440370:T608I;ENSP00000377072:T774I;ENSP00000440415:T754I;ENSP00000442161:T727I	ENSP00000162330:T756I	T	-	2	0	BCAR1	73821256	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.265000	0.51561	2.310000	0.77875	0.563000	0.77884	ACC		0.667	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		28	34	0	0	0	1	0	28	34					A	75263755	G	A	75263755	3	1	435	1	0	0	0	0	1	0	0	0	1348	1261	44	3	349	3	BCAR1	16	75263755	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	313703	75263755	15090998	7032	27957											
BCAR1	9564	broad.mit.edu	37	chr16	75268802	75268802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacctgtaggtggacgtaGtcatagtcctccatccagcc	8	9	9	15	1	1	0	1	0	0	0	4	1	4	1	6	2	1	2	6	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:75268802G>T	ENST00000162330.5	-	5	2121	c.1995C>A	c.(1993-1995)gaC>gaA	p.D665E	BCAR1_ENST00000538440.2_Missense_Mutation_p.D665E|BCAR1_ENST00000393420.6_Missense_Mutation_p.D683E|BCAR1_ENST00000420641.3_Missense_Mutation_p.D683E|BCAR1_ENST00000418647.3_Missense_Mutation_p.D711E|BCAR1_ENST00000542031.2_Missense_Mutation_p.D663E|BCAR1_ENST00000546196.1_Missense_Mutation_p.D636E|BCAR1_ENST00000393422.2_Missense_Mutation_p.D683E|BCAR1_ENST00000535626.2_Missense_Mutation_p.D517E|BCAR1_ENST00000566982.1_5'UTR	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	665					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTGGACGTAGTCATAGTCCT	0.642																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(1906-1908)gaC>gaA		breast cancer anti-estrogen resistance 1							49	51	50					16																	75268802		2198	4300	6498	SO:0001583	missense	9564				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	g.chr16:75268802G>T	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.1995C>A	16.37:g.75268802G>T	ENSP00000162330:p.Asp665Glu					BCAR1_ENST00000393420.6_Missense_Mutation_p.D683E|BCAR1_ENST00000542031.2_Missense_Mutation_p.D663E|BCAR1_ENST00000538440.2_Missense_Mutation_p.D665E|BCAR1_ENST00000420641.3_Missense_Mutation_p.D683E|BCAR1_ENST00000535626.2_Missense_Mutation_p.D517E|BCAR1_ENST00000393422.2_Missense_Mutation_p.D683E|BCAR1_ENST00000418647.3_Missense_Mutation_p.D711E|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000162330.5_Missense_Mutation_p.D665E	p.D636E			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	5	3560	-			665					B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.1908C>A	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147004	0.77888	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73	4.99	4.99	0.66335	CAS family, DUF3513 (1);	0.154237	0.56097	D	0.000038	T	0.52805	0.1757	M	0.78456	2.415	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.997;0.99;0.996;0.997;0.999;0.997;0.999	D;D;D;P;D;D;D;D;D	0.79108	0.992;0.923;0.992;0.875;0.987;0.992;0.923;0.992;0.954	T	0.57481	-0.7804	10	0.72032	D	0.01	-34.1522	16.1991	0.82057	0.0:0.0:1.0:0.0	.	683;517;711;663;683;683;665;665;455	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	E	665;683;683;665;711;517;683;663;636	ENSP00000162330:D665E;ENSP00000377074:D683E;ENSP00000392708:D683E;ENSP00000443841:D665E;ENSP00000391669:D711E;ENSP00000440370:D517E;ENSP00000377072:D683E;ENSP00000440415:D663E;ENSP00000442161:D636E	ENSP00000162330:D665E	D	-	3	2	BCAR1	73826303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.165000	0.42396	2.492000	0.84095	0.558000	0.71614	GAC		0.642	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		16	24	1	0	1.15088e-07	1	1.20771e-07	16	24					T	75268802	G	T	75268802	3	4	435	1	0	0	0	0	1	0	0	0	1348	1020	36	5	629	5	BCAR1	16	75268802	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5047	75268802	15085951	7033	27958											
CHST5	23563	broad.mit.edu	37	chr16	75564025	75564025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatcaggtagaagacgtcGgggtgctggctgaagagctg	9	8	16	8	2	1	4	1	1	0	3	3	4	2	4	1	4	2	4	1	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:75564025G>A	ENST00000336257.3	-	3	1652	c.258C>T	c.(256-258)ccC>ccT	p.P86P	CHST5_ENST00000541075.1_Silent_p.P92P|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	86					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AGAAGACGTCGGGGTGCTGGC	0.677																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(256-258)ccC>ccT		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							40	37	38					16																	75564025		2198	4300	6498	SO:0001819	synonymous_variant	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75564025G>A	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.258C>T	16.37:g.75564025G>A						CHST5_ENST00000541075.1_Silent_p.P92P|RP11-77K12.7_ENST00000460606.1_3'UTR	p.P86P	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	1652	-			86					B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	c.258C>T	CCDS10919.1																																																																																				0.677	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		6	14	0	0	0	1	0	6	14					A	75564025	G	A	75564025	2	1	435	1	0	0	0	0	0	0	0	1	3407	1103	39	2		2	CHST5	16	75564025	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	295223	75564025	14790728	7034	27959											
MON1B	22879	broad.mit.edu	37	chr16	77229569	77229569	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtggctgagaaggagacacTactggcctgggtaagttggg	9	8	17	7	1	0	2	0	1	0	2	0	4	0	2	1	5	1	3	1	5	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:77229569T>C	ENST00000248248.3	+	5	1783	c.1433T>C	c.(1432-1434)cTa>cCa	p.L478P	MON1B_ENST00000545553.1_Missense_Mutation_p.L332P|MON1B_ENST00000439557.2_Missense_Mutation_p.L369P|MON1B_ENST00000320859.6_Missense_Mutation_p.Y142H	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	478										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						AAGGAGACACTACTGGCCTGG	0.592																																						ENST00000248248.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(1432-1434)cTa>cCa		MON1 secretory trafficking family member B							74	69	71					16																	77229569		2198	4300	6498	SO:0001583	missense	22879						protein binding	g.chr16:77229569T>C	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"MON1 homolog B (yeast)"			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1433T>C	16.37:g.77229569T>C	ENSP00000248248:p.Leu478Pro					MON1B_ENST00000545553.1_Missense_Mutation_p.L332P|MON1B_ENST00000439557.2_Missense_Mutation_p.L369P|MON1B_ENST00000320859.6_Missense_Mutation_p.Y142H	p.L478P	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN			5	1783	+			478					B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	37	c.1433T>C	CCDS10925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.51|18.51	3.638672|3.638672	0.67130|0.67130	.|.	.|.	ENSG00000103111|ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553|ENST00000320859	.|.	.|.	.|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.71341|0.71341	0.3328|0.3328	M|M	0.87758|0.87758	2.905|2.905	0.29020|0.29020	N|N	0.886319|0.886319	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.998;0.998;1.0|.	T|T	0.70890|0.70890	-0.4749|-0.4749	9|6	0.54805|0.87932	T|D	0.06|0	.|.	13.5077|13.5077	0.61493|0.61493	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	332;369;358;478|.	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2|.	.;.;.;MON1B_HUMAN|.	P|H	478;369;332|142	.|.	ENSP00000248248:L478P|ENSP00000324833:Y142H	L|Y	+|+	2|1	0|0	MON1B|MON1B	75787070|75787070	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.979000|0.979000	0.70002|0.70002	7.926000|7.926000	0.87569|0.87569	2.233000|2.233000	0.73108|0.73108	0.533000|0.533000	0.62120|0.62120	CTA|TAC		0.592	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		3	41	0	0	0	1	0	3	41					C	77229569	T	C	77229569	3	2	435	1	0	0	0	0	1	0	0	0	9699	1522	53	4	1447	4	MON1B	16	77229569	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1665544	77229569	13125184	7035	27960											
WWOX	51741	broad.mit.edu	37	chr16	78143685	78143685	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtttcagatttgccataCggatgggaacaagaaactga	13	11	11	6	1	1	3	1	1	0	2	1	5	1	5	1	2	4	1	1	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:78143685C>T	ENST00000566780.1	+	3	549	c.183C>T	c.(181-183)taC>taT	p.Y61Y	WWOX_ENST00000402655.2_Silent_p.Y61Y|WWOX_ENST00000355860.3_Silent_p.Y61Y|WWOX_ENST00000408984.3_Silent_p.Y61Y|WWOX_ENST00000406884.2_Silent_p.Y61Y|WWOX_ENST00000539474.2_Silent_p.Y61Y	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	61	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ATTTGCCATACGGATGGGAAC	0.468																																						ENST00000566780.1																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(181-183)taC>taT		WW domain containing oxidoreductase							128	119	122					16																	78143685		1881	4117	5998	SO:0001819	synonymous_variant	51741				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	g.chr16:78143685C>T	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	12799	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 41C, member 1"	605131	"WW domain-containing oxidoreductase"			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.183C>T	16.37:g.78143685C>T						WWOX_ENST00000402655.2_Silent_p.Y61Y|WWOX_ENST00000406884.2_Silent_p.Y61Y|WWOX_ENST00000539474.2_Silent_p.Y61Y|WWOX_ENST00000408984.3_Silent_p.Y61Y|WWOX_ENST00000355860.3_Silent_p.Y61Y	p.Y61Y	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN		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)	3	549	+		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)	61			WW 2.		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Silent	SNP	ENST00000566780.1	37	c.183C>T	CCDS42196.1																																																																																				0.468	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			28	38	0	0	0	1	0	28	38					T	78143685	C	T	78143685	2	4	435	1	0	0	0	0	0	0	0	1	17411	547	19	1		1	WWOX	16	78143685	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	914116	78143685	12211068	7036	27961											
WWOX	51741	broad.mit.edu	37	chr16	78466627	78466627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactgctgtttaccttggCgaggcctttcaccaagtcca	8	11	8	14	1	1	0	1	0	0	0	2	1	2	0	4	2	2	2	4	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:78466627C>T	ENST00000566780.1	+	8	1400	c.1034C>T	c.(1033-1035)gCg>gTg	p.A345V	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.A345V|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	345	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTTACCTTGGCGAGGCCTTTC	0.532																																						ENST00000566780.1																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(1033-1035)gCg>gTg		WW domain containing oxidoreductase							167	165	166					16																	78466627		2033	4194	6227	SO:0001583	missense	51741				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	g.chr16:78466627C>T	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	12799	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 41C, member 1"	605131	"WW domain-containing oxidoreductase"			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.1034C>T	16.37:g.78466627C>T	ENSP00000457230:p.Ala345Val					WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.A345V	p.A345V	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN		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)	8	1400	+		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)	345			Interaction with MAPT (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	c.1034C>T	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527666	0.27299	.	.	ENSG00000186153	ENST00000408984	T	0.78707	-1.2	5.93	5.93	0.95920	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.58750	0.2144	N	0.16233	0.39	0.53688	D	0.99997	B	0.23442	0.085	B	0.12156	0.007	T	0.56159	-0.8025	10	0.02654	T	1	.	13.5191	0.61557	0.0:0.9289:0.0:0.0711	.	345	Q9NZC7	WWOX_HUMAN	V	345	ENSP00000386161:A345V	ENSP00000386161:A345V	A	+	2	0	WWOX	77024128	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	3.847000	0.55895	2.814000	0.96858	0.655000	0.94253	GCG		0.532	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			53	97	0	0	0	1	0	53	97					T	78466627	C	T	78466627	3	4	435	1	0	0	0	0	1	0	0	0	17411	768	27	1	1126	1	WWOX	16	78466627	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	322942	78466627	11888126	7037	27962											
ATMIN	23300	broad.mit.edu	37	chr16	81078146	81078146	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcttactcgcagatacCtctgctcagtcctatgggtg	7	13	9	12	1	3	1	1	0	2	1	5	2	4	1	2	1	3	2	2	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:81078146C>T	ENST00000299575.4	+	4	2067	c.2043C>T	c.(2041-2043)acC>acT	p.T681T	ATMIN_ENST00000564241.1_Silent_p.T525T|ATMIN_ENST00000566488.1_Silent_p.T525T|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	681					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TCGCAGATACCTCTGCTCAGT	0.448																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1573-1575)acC>acT		ATM interactor							102	110	107					16																	81078146		2202	4300	6502	SO:0001819	synonymous_variant	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078146C>T	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.2043C>T	16.37:g.81078146C>T						ATMIN_ENST00000299575.4_Silent_p.T681T|ATMIN_ENST00000564241.1_Silent_p.T525T|ATMIN_ENST00000539819.1_3'UTR	p.T525T			O43313	ATMIN_HUMAN			3	2538	+			681	Y -> H (in Ref. 2; CAH18291).				A8K4H8|Q68DC9	Silent	SNP	ENST00000299575.4	37	c.1575C>T	CCDS32494.1																																																																																				0.448	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		30	65	0	0	0	1	0	30	65					T	81078146	C	T	81078146	2	4	435	1	0	0	0	0	0	0	0	1	1110	668	24	3		3	ATMIN	16	81078146	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2611519	81078146	9276607	7038	27963											
PKD1L2	114780	broad.mit.edu	37	chr16	81236213	81236213	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcatgcagtcacactgagCgtctccatcttgtctcgcac	8	10	9	14	2	4	1	1	1	3	0	6	2	4	1	1	0	3	3	1	0	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:81236213C>T	ENST00000525539.1	-	0	1034				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCACACTGAGCGTCTCCATCT	0.577																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1033-1035)acG>acA		polycystic kidney disease 1-like 2							61	68	65					16																	81236213		2172	4270	6442			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81236213C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81236213C>T						PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA	p.T345T			Q7Z442	PK1L2_HUMAN			6	1034	-			345					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.1035G>A																																																																																					0.577	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			22	25	0	0	0	1	0	22	25					T	81236213	C	T	81236213	1	4	435	0	1	0	0	0	0	0	0	0	11965	755	27	1		1	PKD1L2	16	81236213	RNA	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	158067	81236213	9118540	7039	27964											
BCMO1	53630	broad.mit.edu	37	chr16	81298346	81298346	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcacatccattgtggaaaaGgggaagacaaagtatgtgat	15	8	13	5	0	0	2	0	1	0	1	1	4	1	4	1	4	0	2	1	4	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:81298346G>A	ENST00000258168.2	+	5	1034	c.573G>A	c.(571-573)aaG>aaA	p.K191K	BCMO1_ENST00000425577.2_Silent_p.K122K	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TTGTGGAAAAGGGGAAGACAA	0.433																																						ENST00000258168.2																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						c.(571-573)aaG>aaA		beta-carotene 15,15'-monooxygenase 1							129	106	114					16																	81298346		2202	4300	6502	SO:0001819	synonymous_variant	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81298346G>A																												ENST00000258168.2:c.573G>A	16.37:g.81298346G>A						BCMO1_ENST00000425577.2_Silent_p.K122K	p.K191K	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN			5	1034	+			191						Silent	SNP	ENST00000258168.2	37	c.573G>A	CCDS10934.1																																																																																				0.433	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			9	74	0	0	0	1	0	9	74					A	81298346	G	A	81298346	2	1	435	1	0	0	0	0	0	0	0	1	1384	991	35	3		3	BCMO1	16	81298346	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62133	81298346	9056407	7040	27965											
PLCG2	5336	broad.mit.edu	37	chr16	81934265	81934265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcagcgtggagcaacaGcgtcacatggccaaggcctt	10	6	12	13	2	1	0	1	0	0	0	1	1	1	1	2	3	5	2	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:81934265G>T	ENST00000359376.3	+	14	1456	c.1242G>T	c.(1240-1242)caG>caT	p.Q414H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	414	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGGAGCAACAGCGTCACATGG	0.632																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1240-1242)caG>caT		phospholipase C, gamma 2 (phosphatidylinositol-specific)							48	53	51					16																	81934265		2149	4260	6409	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81934265G>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1242G>T	16.37:g.81934265G>T	ENSP00000352336:p.Gln414His						p.Q414H	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			14	1456	+			414			PI-PLC X-box.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.1242G>T	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941204	0.53079	.	.	ENSG00000197943	ENST00000359376	T	0.62105	0.05	5.03	1.93	0.25924	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	D	0.86606	0.5973	H	0.99675	4.695	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87529	0.2451	10	0.87932	D	0	.	9.7803	0.40645	0.3628:0.0:0.6372:0.0	.	281;414	B4E3H3;P16885	.;PLCG2_HUMAN	H	414	ENSP00000352336:Q414H	ENSP00000352336:Q414H	Q	+	3	2	PLCG2	80491766	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	3.844000	0.55873	0.507000	0.28148	-0.251000	0.11542	CAG		0.632	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			14	14	1	0	1.5842e-08	1	1.67426e-08	14	14					T	81934265	G	T	81934265	3	4	435	1	0	0	0	0	1	0	0	0	12036	962	34	5	1292	5	PLCG2	16	81934265	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	635919	81934265	8420488	7041	27966											
PLCG2	5336	broad.mit.edu	37	chr16	81960741	81960741	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacttcccatccaactacgtCgaggacatctcaactgcaga	12	9	6	14	2	1	1	1	0	1	1	5	3	3	2	2	1	5	1	2	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:81960741C>T	ENST00000359376.3	+	23	2686	c.2472C>T	c.(2470-2472)gtC>gtT	p.V824V		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	824	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCAACTACGTCGAGGACATCT	0.527																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(2470-2472)gtC>gtT		phospholipase C, gamma 2 (phosphatidylinositol-specific)							169	167	167					16																	81960741		2010	4179	6189	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81960741C>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2472C>T	16.37:g.81960741C>T							p.V824V	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			23	2686	+			824			SH3.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.2472C>T	CCDS42204.1																																																																																				0.527	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			56	77	0	0	0	1	0	56	77					T	81960741	C	T	81960741	2	4	435	1	0	0	0	0	0	0	0	1	12036	871	31	2		2	PLCG2	16	81960741	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26476	81960741	8394012	7042	27967											
SDR42E1	93517	broad.mit.edu	37	chr16	82033231	82033231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaagttatccacgtggaCaaactcaaccaggctcctgg	12	7	8	14	1	1	0	1	0	0	0	3	1	3	1	4	3	2	2	4	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:82033231C>T	ENST00000328945.5	-	3	794	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	SDR42E1_ENST00000534209.1_5'Flank	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	223					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TCCACGTGGACAAACTCAACC	0.542																																						ENST00000328945.5																			0				NS(2)|endometrium(1)|lung(4)|skin(3)	10						c.(667-669)Gtc>Atc		short chain dehydrogenase/reductase family 42E, member 1							106	109	108					16																	82033231		1904	4113	6017	SO:0001583	missense	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82033231C>T	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.667G>A	16.37:g.82033231C>T	ENSP00000332407:p.Val223Ile						p.V223I	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN			3	794	-			223					B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	c.667G>A	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517709	0.85495	.	.	ENSG00000184860	ENST00000328945	D	0.88124	-2.34	5.58	4.63	0.57726	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83741	0.5320	L	0.42632	1.34	0.58432	D	0.999992	P	0.41597	0.756	B	0.42882	0.401	T	0.81547	-0.0883	10	0.30854	T	0.27	-26.8995	13.4075	0.60922	0.0:0.925:0.0:0.075	.	223	Q8WUS8	D42E1_HUMAN	I	223	ENSP00000332407:V223I	ENSP00000332407:V223I	V	-	1	0	SDR42E1	80590732	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	1.345000	0.45676	0.655000	0.94253	GTC		0.542	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		34	110	0	0	0	1	0	34	110					T	82033231	C	T	82033231	3	4	435	1	0	0	0	0	1	0	0	0	13973	478	17	3	518	3	SDR42E1	16	82033231	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	72490	82033231	8321522	7043	27968											
MBTPS1	8720	broad.mit.edu	37	chr16	84129223	84129223	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acacctgtatatcccatctgCcagagcacatctgcctgcag	10	9	7	15	0	2	1	0	0	2	1	3	1	3	1	4	0	4	3	4	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84129223C>T	ENST00000343411.3	-	4	1104	c.609G>A	c.(607-609)tgG>tgA	p.W203*	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	203					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			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						ATCCCATCTGCCAGAGCACAT	0.567																																						ENST00000343411.3																			0				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						c.(607-609)tgG>tgA		membrane-bound transcription factor peptidase, site 1							86	70	75					16																	84129223		2200	4300	6500	SO:0001587	stop_gained	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84129223C>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.609G>A	16.37:g.84129223C>T	ENSP00000344223:p.Trp203*						p.W203*	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			4	1104	-			203					A8K6V8|Q24JQ2|Q9UF67	Nonsense_Mutation	SNP	ENST00000343411.3	37	c.609G>A	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	C	43	9.931801	0.99298	.	.	ENSG00000140943	ENST00000343411	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6313	20.4388	0.99107	0.0:1.0:0.0:0.0	.	.	.	.	X	203	.	ENSP00000344223:W203X	W	-	3	0	MBTPS1	82686724	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	TGG		0.567	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		15	29	0	0	0	1	0	15	29					T	84129223	C	T	84129223	4	4	435	1	0	0	0	0	0	1	0	0	9361	740	26	3	2629	3	MBTPS1	16	84129223	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2095992	84129223	6225530	7044	27969											
LRRC50	123872	broad.mit.edu	37	chr16	84188289	84188289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaggcccaaactgagttgCgttgcctcttcttgcaaatg	8	12	11	10	1	2	1	0	1	2	0	2	2	2	2	2	2	4	3	2	2	2	4	rs574238677		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84188289C>T	ENST00000378553.5	+	4	584	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	DNAAF1_ENST00000334315.5_Missense_Mutation_p.R154C	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	154					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AACTGAGTTGCGTTGCCTCTT	0.473													C|||	1	0.000199681	0	0	5008	,	,		18565	0		0	False		,,,				2504	0.001					ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(460-462)Cgt>Tgt		dynein, axonemal, assembly factor 1							106	99	101					16																	84188289		2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84188289C>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.460C>T	16.37:g.84188289C>T	ENSP00000367815:p.Arg154Cys					DNAAF1_ENST00000334315.5_Missense_Mutation_p.R154C	p.R154C	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			4	584	+			154					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.460C>T	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002993	0.74932	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.24908	1.83;1.83	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.56543	0.1992	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63937	-0.6524	10	0.72032	D	0.01	-14.9519	18.2687	0.90060	0.0:1.0:0.0:0.0	.	154	Q8NEP3	DAAF1_HUMAN	C	154	ENSP00000334593:R154C;ENSP00000367815:R154C	ENSP00000334593:R154C	R	+	1	0	DNAAF1	82745790	1.000000	0.71417	0.963000	0.40424	0.411000	0.31082	7.392000	0.79840	2.306000	0.77630	0.650000	0.86243	CGT		0.473	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		19	29	0	0	0	1	0	19	29					T	84188289	C	T	84188289	3	4	435	1	0	0	0	0	1	0	0	0	9009	768	27	1	474	1	LRRC50	16	84188289	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	59066	84188289	6166464	7045	27970											
LRRC50	123872	broad.mit.edu	37	chr16	84203510	84203510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagaatgtgcccgccagtgCggaaggcaaggaggagcctc	10	5	16	10	2	0	1	0	1	0	1	1	5	0	4	3	4	3	1	3	4	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84203510C>T	ENST00000378553.5	+	8	1200	c.1076C>T	c.(1075-1077)gCg>gTg	p.A359V	DNAAF1_ENST00000334315.5_Missense_Mutation_p.A359V|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	359					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CCCGCCAGTGCGGAAGGCAAG	0.537																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(1075-1077)gCg>gTg		dynein, axonemal, assembly factor 1							69	73	71					16																	84203510		2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84203510C>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1076C>T	16.37:g.84203510C>T	ENSP00000367815:p.Ala359Val					DNAAF1_ENST00000334315.5_Missense_Mutation_p.A359V|DNAAF1_ENST00000563818.1_3'UTR	p.A359V	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			8	1200	+			359					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.1076C>T	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	0.476	-0.882217	0.02530	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.32272	1.46;1.83	4.8	-9.6	0.00553	.	4.269700	0.00567	N	0.000296	T	0.06781	0.0173	N	0.00538	-1.39	0.09310	N	1	B;B	0.23540	0.087;0.005	B;B	0.11329	0.006;0.001	T	0.25676	-1.0125	10	0.21014	T	0.42	-0.0041	3.0947	0.06305	0.4973:0.2204:0.0759:0.2064	.	123;359	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	V	359	ENSP00000334593:A359V;ENSP00000367815:A359V	ENSP00000334593:A359V	A	+	2	0	DNAAF1	82761011	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.262000	0.02852	-5.093000	0.00022	-2.896000	0.00094	GCG		0.537	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		14	32	0	0	0	1	0	14	32					T	84203510	C	T	84203510	3	4	435	1	0	0	0	0	1	0	0	0	9009	768	27	1	1106	1	LRRC50	16	84203510	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15221	84203510	6151243	7046	27971											
LRRC50	123872	broad.mit.edu	37	chr16	84203534	84203534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcaaggaggagcctcccgGggacagagaaacaaggcaga	15	1	16	9	1	0	2	0	0	0	2	1	6	1	5	2	6	2	2	2	6	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84203534G>T	ENST00000378553.5	+	8	1224	c.1100G>T	c.(1099-1101)gGg>gTg	p.G367V	DNAAF1_ENST00000334315.5_Missense_Mutation_p.G367V|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	367					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GAGCCTCCCGGGGACAGAGAA	0.537																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(1099-1101)gGg>gTg		dynein, axonemal, assembly factor 1							72	76	74					16																	84203534		2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84203534G>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1100G>T	16.37:g.84203534G>T	ENSP00000367815:p.Gly367Val					DNAAF1_ENST00000334315.5_Missense_Mutation_p.G367V|DNAAF1_ENST00000563818.1_3'UTR	p.G367V	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			8	1224	+			367					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.1100G>T	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	G	9.231	1.035883	0.19590	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.32023	1.47;1.85	5.17	-5.92	0.02261	.	2.797760	0.01520	N	0.018304	T	0.12475	0.0303	N	0.08118	0	0.09310	N	0.999999	B;B	0.17667	0.023;0.007	B;B	0.15870	0.014;0.002	T	0.09122	-1.0689	10	0.29301	T	0.29	-0.0615	1.2055	0.01893	0.3799:0.3023:0.107:0.2107	.	131;367	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	V	367	ENSP00000334593:G367V;ENSP00000367815:G367V	ENSP00000334593:G367V	G	+	2	0	DNAAF1	82761035	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.513000	0.02256	-0.990000	0.03481	-0.195000	0.12781	GGG		0.537	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		23	18	1	0	9.86323e-18	1	1.08645e-17	23	18					T	84203534	G	T	84203534	3	4	435	1	0	0	0	0	1	0	0	0	9009	1232	43	5	1130	5	LRRC50	16	84203534	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24	84203534	6151219	7047	27972											
LRRC50	123872	broad.mit.edu	37	chr16	84211392	84211392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggagttgcccagcccaGccaagctctgcccacgtggg	6	7	13	15	2	1	0	0	0	1	0	2	1	1	1	4	2	5	2	4	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84211392G>A	ENST00000378553.5	+	12	2247	c.2123G>A	c.(2122-2124)aGc>aAc	p.S708N	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	708					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GCCCAGCCCAGCCAAGCTCTG	0.542																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(2122-2124)aGc>aAc		dynein, axonemal, assembly factor 1							121	111	115					16																	84211392		2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84211392G>A	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.2123G>A	16.37:g.84211392G>A	ENSP00000367815:p.Ser708Asn					DNAAF1_ENST00000563818.1_3'UTR	p.S708N	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			12	2247	+			708					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.2123G>A	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506466	0.26949	.	.	ENSG00000154099	ENST00000378553	T	0.28255	1.62	2.91	-5.81	0.02340	.	.	.	.	.	T	0.15089	0.0364	L	0.36672	1.1	0.09310	N	0.999998	P;P	0.45827	0.867;0.654	B;B	0.41271	0.352;0.079	T	0.17899	-1.0354	9	0.10377	T	0.69	1.4862	2.1682	0.03843	0.1053:0.266:0.1764:0.4523	.	472;708	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	N	708	ENSP00000367815:S708N	ENSP00000367815:S708N	S	+	2	0	DNAAF1	82768893	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.278000	0.18753	-1.431000	0.01982	0.596000	0.82720	AGC		0.542	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		7	49	0	0	0	1	0	7	49					A	84211392	G	A	84211392	3	1	435	1	0	0	0	0	1	0	0	0	9009	971	34	3	2169	3	LRRC50	16	84211392	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7858	84211392	6143361	7048	27973											
ADAD2	161931	broad.mit.edu	37	chr16	84228124	84228124	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgcgaatagcaagacGgaggccaaacagcaggcagc	14	2	14	11	2	0	1	0	0	0	1	0	3	0	2	1	4	5	4	1	4	4	1	rs143343092		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84228124G>A	ENST00000315906.5	+	2	547	c.495G>A	c.(493-495)acG>acA	p.T165T	RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000268624.3_Silent_p.T237T	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	165	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						ATAGCAAGACGGAGGCCAAAC	0.642													A|||	1	0.000199681	0	0	5008	,	,		18551	0.001		0	False		,,,				2504	0					ENST00000268624.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(709-711)acG>acA		adenosine deaminase domain containing 2		A	,	0,4400		0,0,2200	41	39	40		495,711	-8.3	0	16	dbSNP_134	40	1,8597	813.1+/-407.0	0,1,4298	no	coding-synonymous,coding-synonymous	ADAD2	NM_001145400.1,NM_139174.3	,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	,	165/584,237/666	84228124	1,12997	2200	4299	6499	SO:0001819	synonymous_variant	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84228124G>A	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.495G>A	16.37:g.84228124G>A						ADAD2_ENST00000315906.5_Silent_p.T165T|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	p.T237T	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			3	804	+			165					B2RCL6|Q8NA94	Silent	SNP	ENST00000315906.5	37	c.711G>A	CCDS45536.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	0.114	-1.134787	0.01742	0.0	1.16E-4	ENSG00000250685	ENST00000536986	.	.	.	4.15	-8.3	0.01005	.	.	.	.	.	T	0.45216	0.1331	.	.	.	0.34563	D	0.712613	B	0.06786	0.001	B	0.04013	0.001	T	0.13469	-1.0508	7	0.87932	D	0	3.8965	13.9566	0.64152	0.143:0.1065:0.7504:0.0	.	80	Q6ZW55	.	L	66	.	ENSP00000444170:P66L	P	-	2	0	AC009123.1	82785625	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.981000	0.00320	-2.574000	0.00466	-1.988000	0.00451	CCG		0.642	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		3	19	0	0	0	1	0	3	19					A	84228124	G	A	84228124	2	1	435	1	0	0	0	0	0	0	0	1	232	1103	39	2		2	ADAD2	16	84228124	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16732	84228124	6126629	7049	27974											
KCNG4	93107	broad.mit.edu	37	chr16	84270469	84270469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggttttccaccatctcgCgcagccggttcatgcacagg	6	9	12	14	4	2	0	1	0	1	0	4	0	3	0	3	3	2	4	3	3	0	3	rs560844482		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84270469C>T	ENST00000308251.4	-	2	691	c.623G>A	c.(622-624)cGc>cAc	p.R208H	KCNG4_ENST00000568181.1_Missense_Mutation_p.R208H	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	208					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CACCATCTCGCGCAGCCGGTT	0.677																																						ENST00000568181.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(622-624)cGc>cAc		potassium voltage-gated channel, subfamily G, member 4							27	29	28					16																	84270469		2199	4300	6499	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270469C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.623G>A	16.37:g.84270469C>T	ENSP00000312129:p.Arg208His					KCNG4_ENST00000308251.4_Missense_Mutation_p.R208H	p.R208H			Q8TDN1	KCNG4_HUMAN			2	743	-			208					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.623G>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619722	0.87460	.	.	ENSG00000168418	ENST00000308251	D	0.96587	-4.06	5.11	4.16	0.48862	.	0.260978	0.32970	U	0.005437	D	0.97971	0.9332	M	0.87900	2.915	0.43953	D	0.996629	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.946	D	0.97877	1.0289	10	0.48119	T	0.1	.	12.9364	0.58316	0.0:0.9213:0.0:0.0787	.	208;208	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	H	208	ENSP00000312129:R208H	ENSP00000312129:R208H	R	-	2	0	KCNG4	82827970	0.489000	0.26004	0.840000	0.33206	0.869000	0.49853	3.266000	0.51569	1.143000	0.42306	0.549000	0.68633	CGC		0.677	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		14	23	0	0	0	1	0	14	23					T	84270469	C	T	84270469	3	4	435	1	0	0	0	0	1	0	0	0	8030	768	27	1	942	1	KCNG4	16	84270469	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	42345	84270469	6084284	7050	27975											
KCNG4	93107	broad.mit.edu	37	chr16	84270517	84270517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaggagtgcgaggcggggCggcgggtctccctctgctgc	3	6	20	12	5	2	0	0	0	2	0	3	3	2	1	1	6	3	1	1	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84270517C>T	ENST00000308251.4	-	2	643	c.575G>A	c.(574-576)cGc>cAc	p.R192H	KCNG4_ENST00000568181.1_Missense_Mutation_p.R192H	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	192					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CGAGGCGGGGCGGCGGGTCTC	0.682																																						ENST00000568181.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(574-576)cGc>cAc		potassium voltage-gated channel, subfamily G, member 4							24	24	24					16																	84270517		2199	4296	6495	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270517C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.575G>A	16.37:g.84270517C>T	ENSP00000312129:p.Arg192His					KCNG4_ENST00000308251.4_Missense_Mutation_p.R192H	p.R192H			Q8TDN1	KCNG4_HUMAN			2	695	-			192					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.575G>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	4.549	0.101955	0.08731	.	.	ENSG00000168418	ENST00000308251	D	0.96651	-4.08	5.11	1.96	0.26148	.	1.220070	0.05980	N	0.644022	D	0.91492	0.7314	N	0.25647	0.755	0.09310	N	1	B;B	0.13594	0.007;0.008	B;B	0.09377	0.004;0.003	T	0.79754	-0.1670	10	0.13108	T	0.6	.	7.577	0.27942	0.2933:0.6275:0.0:0.0792	.	192;192	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	H	192	ENSP00000312129:R192H	ENSP00000312129:R192H	R	-	2	0	KCNG4	82828018	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.329000	0.19698	0.134000	0.18681	-0.332000	0.08345	CGC		0.682	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		16	18	0	0	0	1	0	16	18					T	84270517	C	T	84270517	3	4	435	1	0	0	0	0	1	0	0	0	8030	768	27	1	990	1	KCNG4	16	84270517	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	48	84270517	6084236	7051	27976											
ATP2C2	9914	broad.mit.edu	37	chr16	84456040	84456040	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtttcaccggggaagcCgagccatgtagtaaaacaga	13	7	11	10	2	1	1	1	0	0	1	2	3	2	2	4	2	3	3	4	2	4	3	rs372288677		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84456040C>T	ENST00000262429.4	+	8	758	c.669C>T	c.(667-669)gcC>gcT	p.A223A	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Silent_p.A223A	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	223					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			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						CCGGGGAAGCCGAGCCATGTA	0.572																																						ENST00000416219.2																			0				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						c.(667-669)gcC>gcT		ATPase, Ca++ transporting, type 2C, member 2		C		0,3940		0,0,1970	84	89	88		669	-10.1	0	16		88	7,8305		0,7,4149	no	coding-synonymous	ATP2C2	NM_014861.2		0,7,6119	TT,TC,CC		0.0842,0.0,0.0571		223/947	84456040	7,12245	1970	4156	6126	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84456040C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.669C>T	16.37:g.84456040C>T						ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.A223A	p.A223A			O75185	AT2C2_HUMAN			8	758	+			223					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.669C>T	CCDS42207.1																																																																																				0.572	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		19	29	0	0	0	1	0	19	29					T	84456040	C	T	84456040	2	4	435	1	0	0	0	0	0	0	0	1	1144	639	23	2		2	ATP2C2	16	84456040	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	185523	84456040	5898713	7052	27977											
ATP2C2	9914	broad.mit.edu	37	chr16	84492742	84492742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaatgcagtggaggaaGgcaagggtattttttacaac	13	9	14	5	0	0	0	0	0	0	0	0	3	0	3	0	5	3	4	0	5	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84492742G>T	ENST00000262429.4	+	22	2253	c.2164G>T	c.(2164-2166)Ggc>Tgc	p.G722C	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.G722C|RP11-517C16.2_ENST00000565700.1_RNA	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	722					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			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						AGTGGAGGAAGGCAAGGGTAT	0.542																																						ENST00000416219.2																			0				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						c.(2164-2166)Ggc>Tgc		ATPase, Ca++ transporting, type 2C, member 2							87	96	93					16																	84492742		2083	4241	6324	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84492742G>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2164G>T	16.37:g.84492742G>T	ENSP00000262429:p.Gly722Cys					ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.G722C	p.G722C			O75185	AT2C2_HUMAN			22	2253	+			722					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.2164G>T	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942729	0.73672	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.98028	-4.67;-4.67	4.85	4.85	0.62838	ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000001	D	0.99333	0.9766	H	0.98754	4.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98385	1.0560	10	0.87932	D	0	.	17.2991	0.87177	0.0:0.0:1.0:0.0	.	722;571;739;722	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	C	722;722;571	ENSP00000397925:G722C;ENSP00000262429:G722C	ENSP00000262429:G722C	G	+	1	0	ATP2C2	83050243	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	9.228000	0.95250	2.384000	0.81235	0.561000	0.74099	GGC		0.542	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		26	40	1	0	2.48779e-11	1	2.67617e-11	26	40					T	84492742	G	T	84492742	3	4	435	1	0	0	0	0	1	0	0	0	1144	1000	35	5	2250	5	ATP2C2	16	84492742	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	36702	84492742	5862011	7053	27978											
ZDHHC7	55625	broad.mit.edu	37	chr16	85015549	85015549	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgacttccccgggcttcaGctgcaagctctccatgtatt	7	12	9	13	1	2	1	1	1	1	0	4	2	3	1	3	1	3	5	3	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:85015549G>A	ENST00000313732.4	-	4	719	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L	ZDHHC7_ENST00000564466.1_Silent_p.L160L|ZDHHC7_ENST00000569488.1_Intron	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	123					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						CCGGGCTTCAGCTGCAAGCTC	0.493																																						ENST00000313732.4																			0				large_intestine(6)|lung(4)	10						c.(367-369)Ctg>Ttg		zinc finger, DHHC-type containing 7							144	152	150					16																	85015549		2199	4300	6499	SO:0001819	synonymous_variant	55625					integral to membrane	acyltransferase activity|protein binding|zinc ion binding	g.chr16:85015549G>A	AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"Zinc fingers, DHHC-type"	18459	protein-coding gene	gene with protein product	"Sertoli cell gene with zinc finger domain-&#946;"	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.367C>T	16.37:g.85015549G>A						ZDHHC7_ENST00000569488.1_Intron|ZDHHC7_ENST00000564466.1_Silent_p.L160L	p.L123L	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN			4	719	-			123					D3DUM1|Q8WV42|Q9NVD8	Silent	SNP	ENST00000313732.4	37	c.367C>T	CCDS10950.1																																																																																				0.493	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1	NM_017740		47	74	0	0	0	1	0	47	74					A	85015549	G	A	85015549	2	1	435	1	0	0	0	0	0	0	0	1	17617	962	34	3		3	ZDHHC7	16	85015549	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	522807	85015549	5339204	7054	27979											
FAM92B	339145	broad.mit.edu	37	chr16	85135865	85135865	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctccagggtctggaaggcGctagaatacacctccaccgc	9	8	10	14	2	2	1	0	0	2	1	4	2	3	2	4	3	1	1	4	3	4	3	rs373284017		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:85135865G>A	ENST00000539556.1	-	7	761	c.606C>T	c.(604-606)agC>agT	p.S202S		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	202										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						TCTGGAAGGCGCTAGAATACA	0.463																																						ENST00000539556.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						c.(604-606)agC>agT		family with sequence similarity 92, member B		G		0,4396		0,0,2198	108	102	104		606	-11.6	0	16		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM92B	NM_198491.1		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		202/305	85135865	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	339145							g.chr16:85135865G>A		CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.606C>T	16.37:g.85135865G>A							p.S202S	NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN			7	761	-			202						Silent	SNP	ENST00000539556.1	37	c.606C>T	CCDS32500.1																																																																																				0.463	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198491		21	63	0	0	0	1	0	21	63					A	85135865	G	A	85135865	2	1	435	1	0	0	0	0	0	0	0	1	5653	1078	38	1		1	FAM92B	16	85135865	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	120316	85135865	5218888	7055	27980											
GINS2	51659	broad.mit.edu	37	chr16	85712249	85712249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtccggatttcgtctGccttcgggatgttgtctgaa	5	13	13	10	3	2	1	0	1	2	0	5	3	3	3	3	3	1	1	3	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:85712249G>A	ENST00000253462.3	-	4	429	c.329C>T	c.(328-330)gCa>gTa	p.A110V		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	110					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						GATTTCGTCTGCCTTCGGGAT	0.517																																						ENST00000253462.3																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(328-330)gCa>gTa		GINS complex subunit 2 (Psf2 homolog)							133	115	121					16																	85712249		2198	4300	6498	SO:0001583	missense	51659				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding	g.chr16:85712249G>A	BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.329C>T	16.37:g.85712249G>A	ENSP00000253462:p.Ala110Val						p.A110V	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN			4	429	-			110					D3DUM5|Q6IAG9	Missense_Mutation	SNP	ENST00000253462.3	37	c.329C>T	CCDS10953.1	.	.	.	.	.	.	.	.	.	.	G	34	5.302307	0.95601	.	.	ENSG00000131153	ENST00000253462	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.73806	0.3634	L	0.46885	1.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67632	-0.5621	9	0.22109	T	0.4	-14.9443	19.0639	0.93103	0.0:0.0:1.0:0.0	.	110	Q9Y248	PSF2_HUMAN	V	110	.	ENSP00000253462:A110V	A	-	2	0	GINS2	84269750	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.257000	0.95545	2.604000	0.88044	0.557000	0.71058	GCA		0.517	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269098.1	NM_016095		39	58	0	0	0	1	0	39	58					A	85712249	G	A	85712249	3	1	435	1	0	0	0	0	1	0	0	0	6388	1319	46	3	236	3	GINS2	16	85712249	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	576384	85712249	4642504	7056	27981											
IRF8	3394	broad.mit.edu	37	chr16	85946826	85946826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccttccagactggtgggcGcagcagcccagcacaggtga	8	6	13	14	1	0	2	0	1	0	1	2	2	2	2	3	3	3	3	3	3	0	1	rs146360039		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:85946826G>A	ENST00000268638.5	+	5	959	c.537G>A	c.(535-537)gcG>gcA	p.A179A	IRF8_ENST00000562492.1_5'Flank	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	179					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				ACTGGTGGGCGCAGCAGCCCA	0.617													G|||	1	0.000199681	8e-04	0	5008	,	,		18026	0		0	False		,,,				2504	0					ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(535-537)gcG>gcA		interferon regulatory factor 8		G		8,4388	14.3+/-33.2	0,8,2190	65	69	68		537	-3.1	0.1	16	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IRF8	NM_002163.2		0,9,6489	AA,AG,GG		0.0116,0.182,0.0693		179/427	85946826	9,12987	2198	4300	6498	SO:0001819	synonymous_variant	3394				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	g.chr16:85946826G>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.537G>A	16.37:g.85946826G>A							p.A179A	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			5	959	+		Prostate(104;0.0771)	179					A0AV82	Silent	SNP	ENST00000268638.5	37	c.537G>A	CCDS10956.1																																																																																				0.617	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		8	34	0	0	0	1	0	8	34					A	85946826	G	A	85946826	2	1	435	1	0	0	0	0	0	0	0	1	7836	1074	38	1		1	IRF8	16	85946826	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	234577	85946826	4407927	7057	27982											
MTHFSD	64779	broad.mit.edu	37	chr16	86582121	86582121	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagttgccccagggggtggTgtgatcttattaaacaatcc	9	13	11	8	0	1	1	0	1	1	0	2	1	2	1	3	3	2	1	3	3	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:86582121T>C	ENST00000360900.6	-	4	325	c.300A>G	c.(298-300)acA>acG	p.T100T	MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000381214.5_Silent_p.T100T|MTHFSD_ENST00000322911.6_Silent_p.T99T|MTHFSD_ENST00000543303.2_Silent_p.T99T|MTHFSD_ENST00000568037.1_5'UTR	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	100							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						CAGGGGGTGGTGTGATCTTAT	0.408																																						ENST00000322911.6																			0				endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(295-297)acA>acG		methenyltetrahydrofolate synthetase domain containing							159	150	153					16																	86582121		1875	4097	5972	SO:0001819	synonymous_variant	64779				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	g.chr16:86582121T>C	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"RNA binding motif (RRM) containing"	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.300A>G	16.37:g.86582121T>C						MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000543303.2_Silent_p.T99T|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000360900.6_Silent_p.T100T|MTHFSD_ENST00000381214.5_Silent_p.T100T	p.T99T	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN			4	347	-			100					A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Silent	SNP	ENST00000360900.6	37	c.297A>G	CCDS54047.1																																																																																				0.408	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		39	48	0	0	0	1	0	39	48					C	86582121	T	C	86582121	2	2	435	1	0	0	0	0	0	0	0	1	9933	1683	59	4		4	MTHFSD	16	86582121	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	635295	86582121	3772632	7058	27983											
MTHFSD	64779	broad.mit.edu	37	chr16	86585801	86585801	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacttcaaggacgaagaagCgagcacttttctggggggca	11	9	13	8	2	2	1	1	0	1	1	2	4	2	2	0	4	3	2	0	4	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:86585801C>T	ENST00000360900.6	-	3	149				MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000381214.5_Missense_Mutation_p.R74H|MTHFSD_ENST00000322911.6_Intron|MTHFSD_ENST00000543303.2_Missense_Mutation_p.R73H|MTHFSD_ENST00000568037.1_5'UTR	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing								nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R74H(1)		endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						GACGAAGAAGCGAGCACTTTT	0.498																																						ENST00000381214.5																			1	Substitution - Missense(1)	p.R74H(1)	central_nervous_system(1)	endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(220-222)cGc>cAc		methenyltetrahydrofolate synthetase domain containing							83	84	84					16																	86585801		1925	4123	6048	SO:0001627	intron_variant	64779				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	g.chr16:86585801C>T	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"RNA binding motif (RRM) containing"	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.124-49G>A	16.37:g.86585801C>T						MTHFSD_ENST00000322911.6_Intron|MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000543303.2_Missense_Mutation_p.R73H|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000360900.6_Intron	p.R74H	NM_001159378.1	NP_001152850.1	Q2M296	MTHSD_HUMAN			3	239	-			74					A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP	ENST00000360900.6	37	c.221G>A	CCDS54047.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110373	0.94292	.	.	ENSG00000103248	ENST00000381214	T	0.45668	0.89	5.93	5.93	0.95920	.	.	.	.	.	T	0.75774	0.3895	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.81982	-0.0683	9	0.87932	D	0	.	19.3303	0.94283	0.0:1.0:0.0:0.0	.	74;73	E9PAM1;B7ZLC0	.;.	H	74	ENSP00000370612:R74H	ENSP00000370612:R74H	R	-	2	0	MTHFSD	85143302	1.000000	0.71417	0.990000	0.47175	0.896000	0.52359	5.408000	0.66368	2.810000	0.96702	0.655000	0.94253	CGC		0.498	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		16	23	0	0	0	1	0	16	23					T	86585801	C	T	86585801	1	4	435	0	1	0	0	0	0	0	0	0	9933	768	27	1		1	MTHFSD	16	86585801	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3680	86585801	3768952	7059	27984											
FOXC2	2303	broad.mit.edu	37	chr16	86602198	86602198	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcccggggccgccgcggcGcaggcggcctcctggtatct	3	5	16	17	6	1	0	0	0	1	0	2	0	2	0	5	6	1	2	5	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:86602198G>A	ENST00000320354.4	+	1	1342	c.1257G>A	c.(1255-1257)gcG>gcA	p.A419A	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	419					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ccgccgcggcGCAGGCGGCCT	0.756									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(1255-1257)gcG>gcA		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							7	9	8					16																	86602198		2059	4069	6128	SO:0001819	synonymous_variant	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	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	g.chr16:86602198G>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"Forkhead boxes"	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.1257G>A	16.37:g.86602198G>A							p.A419A	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	1342	+			419			Ala/Pro-rich.|Poly-Ala.		C6KMR9|Q14DA6	Silent	SNP	ENST00000320354.4	37	c.1257G>A	CCDS10958.1																																																																																				0.756	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		5	14	0	0	0	1	0	5	14					A	86602198	G	A	86602198	2	1	435	1	0	0	0	0	0	0	0	1	5995	1074	38	1		1	FOXC2	16	86602198	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16397	86602198	3752555	7060	27985											
FOXL1	2300	broad.mit.edu	37	chr16	86612535	86612535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggacgcgcccgagcagaGggtcacgctcaacggcatct	9	4	13	15	5	3	1	2	0	1	1	3	3	3	2	2	3	2	3	2	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:86612535G>T	ENST00000320241.3	+	1	421	c.206G>T	c.(205-207)aGg>aTg	p.R69M		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	69					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CCCGAGCAGAGGGTCACGCTC	0.647																																					NSCLC(163;308 2020 10889 11476 18208)	ENST00000320241.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						c.(205-207)aGg>aTg		forkhead box L1							84	85	85					16																	86612535		2198	4300	6498	SO:0001583	missense	2300				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	g.chr16:86612535G>T	AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"Forkhead boxes"	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.206G>T	16.37:g.86612535G>T	ENSP00000326272:p.Arg69Met						p.R69M	NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN			1	421	+			69					Q17RR1|Q9H242	Missense_Mutation	SNP	ENST00000320241.3	37	c.206G>T	CCDS10959.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591267	0.66219	.	.	ENSG00000176678	ENST00000320241	D	0.95482	-3.72	3.78	3.78	0.43462	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.059942	0.64402	U	0.000007	D	0.95947	0.8680	L	0.60067	1.865	0.45452	D	0.998422	D	0.69078	0.997	D	0.79784	0.993	D	0.93821	0.7119	10	0.26408	T	0.33	.	8.5565	0.33485	0.1232:0.0:0.8768:0.0	.	69	Q12952	FOXL1_HUMAN	M	69	ENSP00000326272:R69M	ENSP00000326272:R69M	R	+	2	0	FOXL1	85170036	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.835000	0.39181	1.951000	0.56629	0.491000	0.48974	AGG		0.647	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2	NM_005250		24	37	1	0	5.35356e-11	1	5.74024e-11	24	37					T	86612535	G	T	86612535	3	4	435	1	0	0	0	0	1	0	0	0	6016	1000	35	5	208	5	FOXL1	16	86612535	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10337	86612535	3742218	7061	27986											
ZCCHC14	23174	broad.mit.edu	37	chr16	87446014	87446014	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcagtttgatgggcggAcgggcggcgtggaggactgt	7	7	20	7	4	0	1	0	1	0	0	0	4	0	4	0	6	2	3	0	6	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:87446014A>G	ENST00000268616.4	-	12	2119	c.1902T>C	c.(1900-1902)cgT>cgC	p.R634R		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	634							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.R634R(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TGATGGGCGGACGGGCGGCGT	0.607																																						ENST00000268616.4																			1	Substitution - coding silent(1)	p.R634R(1)	lung(1)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1900-1902)cgT>cgC		zinc finger, CCHC domain containing 14							79	89	86					16																	87446014		2198	4300	6498	SO:0001819	synonymous_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87446014A>G	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1902T>C	16.37:g.87446014A>G							p.R634R	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	2119	-			634					D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	c.1902T>C	CCDS10961.1																																																																																				0.607	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		28	55	0	0	0	1	0	28	55					G	87446014	A	G	87446014	2	3	435	1	0	0	0	0	0	0	0	1	17580	262	10	4		4	ZCCHC14	16	87446014	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	833479	87446014	2908739	7062	27987											
ZCCHC14	23174	broad.mit.edu	37	chr16	87451092	87451092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggagagctgcttaaagaCggggtaatacttgtgcaaac	13	9	12	7	1	0	2	0	0	0	2	0	3	0	2	0	3	5	4	0	3	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:87451092C>T	ENST00000268616.4	-	8	1163	c.946G>A	c.(946-948)Gtc>Atc	p.V316I		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	316							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TGCTTAAAGACGGGGTAATAC	0.507											OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(946-948)Gtc>Atc		zinc finger, CCHC domain containing 14							162	169	167					16																	87451092		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87451092C>T	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.946G>A	16.37:g.87451092C>T	ENSP00000268616:p.Val316Ile		OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1252		p.V316I	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	8	1163	-			316					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.946G>A	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	34	5.401248	0.96030	.	.	ENSG00000140948	ENST00000268616	T	0.48522	0.81	6.07	6.07	0.98685	Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.58552	0.2130	N	0.19112	0.55	0.53688	D	0.999979	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	T	0.61903	-0.6967	10	0.87932	D	0	-35.5595	20.6439	0.99570	0.0:1.0:0.0:0.0	.	316;316	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	I	316	ENSP00000268616:V316I	ENSP00000268616:V316I	V	-	1	0	ZCCHC14	86008593	1.000000	0.71417	0.972000	0.41901	0.980000	0.70556	7.096000	0.76960	2.884000	0.98904	0.655000	0.94253	GTC		0.507	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		44	75	0	0	0	1	0	44	75					T	87451092	C	T	87451092	3	4	435	1	0	0	0	0	1	0	0	0	17580	536	19	1	1927	1	ZCCHC14	16	87451092	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5078	87451092	2903661	7063	27988											
JPH3	57338	broad.mit.edu	37	chr16	87677941	87677941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcccgtatggcatggccGcggtcatccgctcacccctg	4	8	12	17	5	2	0	2	0	0	0	4	0	4	0	5	3	0	3	5	3	1	1	rs146321235		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:87677941G>A	ENST00000284262.2	+	2	702	c.460G>A	c.(460-462)Gcg>Acg	p.A154T		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	154					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGGCATGGCCGCGGTCATCCG	0.697													G|||	1	0.000199681	0	0	5008	,	,		16588	0		0.001	False		,,,				2504	0					ENST00000284262.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(460-462)Gcg>Acg		junctophilin 3		G	THR/ALA	1,4391	2.1+/-5.4	0,1,2195	51	53	53		460	5	0.9	16	dbSNP_134	53	2,8592	2.2+/-6.3	0,2,4295	yes	missense	JPH3	NM_020655.2	58	0,3,6490	AA,AG,GG		0.0233,0.0228,0.0231	benign	154/749	87677941	3,12983	2196	4297	6493	SO:0001583	missense	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87677941G>A	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.460G>A	16.37:g.87677941G>A	ENSP00000284262:p.Ala154Thr						p.A154T	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	702	+			154					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.460G>A	CCDS10962.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	20.2	3.943976	0.73672	2.28E-4	2.33E-4	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.53857	0.6	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	L	0.28649	0.875	0.80722	D	1	P	0.42941	0.794	B	0.36808	0.233	T	0.25984	-1.0116	10	0.08837	T	0.75	.	17.3468	0.87311	0.0:0.0:1.0:0.0	.	154	Q8WXH2	JPH3_HUMAN	T	17;154	ENSP00000284262:A154T	ENSP00000284262:A154T	A	+	1	0	JPH3	86235442	1.000000	0.71417	0.873000	0.34254	0.876000	0.50452	3.243000	0.51392	2.334000	0.79466	0.462000	0.41574	GCG		0.697	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			27	34	0	0	0	1	0	27	34					A	87677941	G	A	87677941	3	1	435	1	0	0	0	0	1	0	0	0	7962	1087	38	1	466	1	JPH3	16	87677941	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	226849	87677941	2676812	7064	27989											
KLHDC4	54758	broad.mit.edu	37	chr16	87743136	87743136	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgcttaatggtgaccacGgtgccatcctcggccaccac	8	8	9	16	2	0	1	0	1	0	0	2	1	1	1	6	3	2	1	6	3	1	1	rs200862866	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:87743136G>A	ENST00000270583.5	-	10	1240	c.1182C>T	c.(1180-1182)acC>acT	p.T394T	KLHDC4_ENST00000353170.5_Silent_p.T337T|KLHDC4_ENST00000347925.5_Silent_p.T363T|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	394										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TGGTGACCACGGTGCCATCCT	0.692													G|||	3	0.000599042	8e-04	0	5008	,	,		15366	0.002		0	False		,,,				2504	0					ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(1180-1182)acC>acT		kelch domain containing 4							35	34	34					16																	87743136		2198	4298	6496	SO:0001819	synonymous_variant	54758							g.chr16:87743136G>A	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.1182C>T	16.37:g.87743136G>A						KLHDC4_ENST00000353170.5_Silent_p.T337T|KLHDC4_ENST00000347925.5_Silent_p.T363T|KLHDC4_ENST00000566349.1_5'UTR	p.T394T	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	10	1240	-			394					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Silent	SNP	ENST00000270583.5	37	c.1182C>T	CCDS10963.1																																																																																				0.692	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		4	21	0	0	0	1	0	4	21					A	87743136	G	A	87743136	2	1	435	1	0	0	0	0	0	0	0	1	8358	1103	39	2		2	KLHDC4	16	87743136	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	65195	87743136	2611617	7065	27990											
SLC7A5	8140	broad.mit.edu	37	chr16	87874675	87874675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctccataggcaaagaGgccgctgtataatgccagca	12	7	9	13	1	0	1	0	0	0	1	2	1	2	1	5	2	2	4	5	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:87874675G>T	ENST00000261622.4	-	3	816	c.751C>A	c.(751-753)Ctc>Atc	p.L251I	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	251					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	TAGGCAAAGAGGCCGCTGTAT	0.522																																						ENST00000261622.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10						c.(751-753)Ctc>Atc		solute carrier family 7 (amino acid transporter light chain, L system), member 5							205	176	186					16																	87874675		2198	4300	6498	SO:0001583	missense	8140				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	g.chr16:87874675G>T	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"CD molecules", "Solute carriers"	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.751C>A	16.37:g.87874675G>T	ENSP00000261622:p.Leu251Ile					SLC7A5_ENST00000565644.1_5'UTR	p.L251I	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	3	816	-			251					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.751C>A	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512358	0.64522	.	.	ENSG00000103257	ENST00000261622	D	0.90676	-2.71	5.33	5.33	0.75918	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95465	0.8527	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94506	0.7714	10	0.34782	T	0.22	.	18.0096	0.89219	0.0:0.0:1.0:0.0	.	251	Q01650	LAT1_HUMAN	I	251	ENSP00000261622:L251I	ENSP00000261622:L251I	L	-	1	0	SLC7A5	86432176	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	5.427000	0.66483	2.503000	0.84419	0.561000	0.74099	CTC		0.522	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		13	46	1	0	4.93089e-13	1	5.3475e-13	13	46					T	87874675	G	T	87874675	3	4	435	1	0	0	0	0	1	0	0	0	14700	1000	35	5	804	5	SLC7A5	16	87874675	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	131539	87874675	2480078	7066	27991											
ZC3H18	124245	broad.mit.edu	37	chr16	88666280	88666280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggtgaccattggcgaagacGaacgggaatttgacaaagaa	15	6	13	7	4	0	4	0	2	0	2	0	7	0	5	1	3	1	0	1	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:88666280G>A	ENST00000301011.5	+	6	1212	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	ZC3H18_ENST00000452588.2_Missense_Mutation_p.E362K	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	338						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)		TGGCGAAGACGAACGGGAATT	0.423																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1012-1014)Gaa>Aaa		zinc finger CCCH-type containing 18							139	158	151					16																	88666280		2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88666280G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1012G>A	16.37:g.88666280G>A	ENSP00000301011:p.Glu338Lys					ZC3H18_ENST00000452588.2_Missense_Mutation_p.E362K	p.E338K	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	6	1212	+			338					Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.1012G>A	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669485	0.88348	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.52295	0.68;0.67	5.16	5.16	0.70880	.	0.152775	0.64402	D	0.000018	T	0.44850	0.1313	L	0.55481	1.735	0.58432	D	0.999996	P;P;P	0.47191	0.891;0.693;0.891	B;B;B	0.38156	0.266;0.178;0.266	T	0.54309	-0.8313	10	0.72032	D	0.01	-17.2196	16.815	0.85732	0.0:0.0:1.0:0.0	.	362;362;338	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	K	338;362;362;221	ENSP00000301011:E338K;ENSP00000416951:E362K	ENSP00000289509:E362K	E	+	1	0	ZC3H18	87193781	1.000000	0.71417	0.950000	0.38849	0.960000	0.62799	9.201000	0.95017	2.390000	0.81377	0.561000	0.74099	GAA		0.423	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		38	77	0	0	0	1	0	38	77					A	88666280	G	A	88666280	3	1	435	1	0	0	0	0	1	0	0	0	17565	1059	37	2	1030	2	ZC3H18	16	88666280	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	791605	88666280	1688473	7067	27992											
SNAI3	333929	broad.mit.edu	37	chr16	88747799	88747799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagtttttccggagcccCgtgccggtctgggcccaagg	6	8	14	13	3	1	0	0	0	1	0	2	1	2	1	5	4	3	2	5	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:88747799C>T	ENST00000332281.5	-	2	486	c.400G>A	c.(400-402)Ggg>Agg	p.G134R	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	134					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G134R(1)		NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		TCCGGAGCCCCGTGCCGGTCT	0.667																																					Colon(27;366 710 19748 23199 27567)	ENST00000332281.5																			1	Substitution - Missense(1)	p.G134R(1)	NS(1)	NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6						c.(400-402)Ggg>Agg		snail family zinc finger 3							45	56	52					16																	88747799		2198	4299	6497	SO:0001583	missense	333929				oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding	g.chr16:88747799C>T	BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"Snail homologs", "Zinc fingers, C2H2-type"	18411	protein-coding gene	gene with protein product		612741	"zinc finger protein 293", "snail homolog 3 (Drosophila)"	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.400G>A	16.37:g.88747799C>T	ENSP00000327968:p.Gly134Arg					SNAI3-AS1_ENST00000563261.1_RNA	p.G134R	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	2	486	-			134					Q86SU5	Missense_Mutation	SNP	ENST00000332281.5	37	c.400G>A	CCDS32505.1	.	.	.	.	.	.	.	.	.	.	C	4.889	0.165211	0.09339	.	.	ENSG00000185669	ENST00000332281	T	0.06449	3.3	4.64	-2.91	0.05631	.	2.065270	0.01995	N	0.045808	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41413	-0.9510	10	0.33940	T	0.23	0.982	8.5383	0.33377	0.0:0.3365:0.1238:0.5397	.	134	Q3KNW1	SNAI3_HUMAN	R	134	ENSP00000327968:G134R	ENSP00000327968:G134R	G	-	1	0	SNAI3	87275300	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.196000	0.09532	-0.792000	0.04480	-1.579000	0.00862	GGG		0.667	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1			37	41	0	0	0	1	0	37	41					T	88747799	C	T	88747799	3	4	435	1	0	0	0	0	1	0	0	0	14828	652	23	2	486	2	SNAI3	16	88747799	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	81519	88747799	1606954	7068	27993											
CDT1	353	broad.mit.edu	37	chr16	88873803	88873803	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccgcgtgctgcggagcGtctttgtgtccgaacgcaag	5	9	15	12	6	1	0	0	0	1	0	2	2	2	1	2	2	4	2	2	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:88873803G>A	ENST00000378364.3	-	0	947				CDT1_ENST00000301019.4_Missense_Mutation_p.V464I	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase						adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	GCTGCGGAGCGTCTTTGTGTC	0.652																																						ENST00000301019.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(1390-1392)Gtc>Atc		chromatin licensing and DNA replication factor 1							48	42	44					16																	88873803		2196	4300	6496	SO:0001628	intergenic_variant	81620				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	g.chr16:88873803G>A		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741			16.37:g.88873803G>A							p.V464I	NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	9	2009	+			464					G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	ENST00000378364.3	37	c.1390G>A	CCDS32511.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239460	0.22711	.	.	ENSG00000167513	ENST00000301019	T	0.79141	-1.24	5.58	-2.51	0.06365	.	0.340710	0.29646	N	0.011567	T	0.63271	0.2497	L	0.33245	0.995	0.40760	D	0.982997	B	0.17038	0.02	B	0.12837	0.008	T	0.47407	-0.9120	10	0.23302	T	0.38	-22.7728	14.1033	0.65072	0.1959:0.0:0.8041:0.0	.	464	Q9H211	CDT1_HUMAN	I	464	ENSP00000301019:V464I	ENSP00000301019:V464I	V	+	1	0	CDT1	87401304	0.383000	0.25156	0.000000	0.03702	0.012000	0.07955	0.680000	0.25306	-0.481000	0.06792	0.563000	0.77884	GTC		0.652	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		8	39	0	0	0	1	0	8	39					A	88873803	G	A	88873803	1	1	435	0	1	0	0	0	0	0	0	0	3180	1145	40	1		1	CDT1	16	88873803	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	126004	88873803	1480950	7069	27994											
GALNS	2588	broad.mit.edu	37	chr16	88902227	88902227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaaaaggggtggtgccGtgcctgtctcttaatgaagt	10	10	15	6	1	1	1	0	1	1	0	2	3	1	2	2	4	2	0	2	4	4	1	rs146963745		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:88902227G>A	ENST00000268695.5	-	7	752	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	GALNS_ENST00000542788.1_Missense_Mutation_p.R147W	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	222	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		GGGTGGTGCCGTGCCTGTCTC	0.627																																					GBM(129;1929 2344 25209 33204)	ENST00000268695.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22						c.(664-666)Cgg>Tgg		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)	T	TRP/ARG	0,4396		0,0,2198	142	114	123		664	-7.6	0	16	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNS	NM_000512.4	101	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	222/523	88902227	1,12995	2198	4300	6498	SO:0001583	missense	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88902227G>A	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.664C>T	16.37:g.88902227G>A	ENSP00000268695:p.Arg222Trp					GALNS_ENST00000542788.1_Missense_Mutation_p.R147W	p.R222W	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	7	752	-			222					Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	c.664C>T	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	g	13.50	2.254677	0.39896	0.0	1.16E-4	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.94046	-3.34;-3.34	5.05	-7.64	0.01286	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.869924	0.10167	N	0.707589	D	0.92743	0.7693	M	0.82193	2.58	0.09310	N	1	D;D	0.65815	0.966;0.995	P;P	0.53185	0.72;0.72	D	0.85919	0.1445	10	0.87932	D	0	.	3.5168	0.07727	0.0797:0.265:0.2145:0.4408	.	222;222	B2R6P1;P34059	.;GALNS_HUMAN	W	222;147	ENSP00000268695:R222W;ENSP00000438197:R147W	ENSP00000268695:R222W	R	-	1	2	GALNS	87429728	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.267000	0.18552	-1.342000	0.02222	-1.724000	0.00704	CGG		0.627	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			8	31	0	0	0	1	0	8	31					A	88902227	G	A	88902227	3	1	435	1	0	0	0	0	1	0	0	0	6206	1144	40	1	936	1	GALNS	16	88902227	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28424	88902227	1452526	7070	27995											
CDH15	1013	broad.mit.edu	37	chr16	89251613	89251613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcagaggccacagatGccgacgaccccgagacggac	11	1	14	15	4	0	3	0	0	0	3	0	7	0	4	5	3	1	1	5	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:89251613G>A	ENST00000289746.2	+	5	600	c.535G>A	c.(535-537)Gcc>Acc	p.A179T		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGCCACAGATGCCGACGACCC	0.662																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(535-537)Gcc>Acc		cadherin 15, type 1, M-cadherin (myotubule)							41	40	41					16																	89251613		2189	4294	6483	SO:0001583	missense	1013				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	g.chr16:89251613G>A	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.535G>A	16.37:g.89251613G>A	ENSP00000289746:p.Ala179Thr						p.A179T	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	5	600	+			179			Cadherin 2.			Missense_Mutation	SNP	ENST00000289746.2	37	c.535G>A	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505724	0.64410	.	.	ENSG00000129910	ENST00000289746	T	0.61859	0.07	4.76	4.76	0.60689	Cadherin (5);Cadherin-like (1);	0.000000	0.52532	D	0.000064	T	0.78559	0.4302	M	0.86178	2.8	0.49213	D	0.999766	D	0.89917	1.0	D	0.80764	0.994	T	0.83119	-0.0119	10	0.87932	D	0	.	16.5411	0.84385	0.0:0.0:1.0:0.0	.	179	P55291	CAD15_HUMAN	T	179	ENSP00000289746:A179T	ENSP00000289746:A179T	A	+	1	0	CDH15	87779114	1.000000	0.71417	0.134000	0.22075	0.180000	0.23129	7.409000	0.80053	2.187000	0.69744	0.462000	0.41574	GCC		0.662	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		4	13	0	0	0	1	0	4	13					A	89251613	G	A	89251613	3	1	435	1	0	0	0	0	1	0	0	0	3100	1319	46	3	553	3	CDH15	16	89251613	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	349386	89251613	1103140	7071	27996											
ZNF778	197320	broad.mit.edu	37	chr16	89293364	89293364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcatgcactcgggacaGatctcttgactacagcagct	11	8	10	12	1	1	2	0	1	1	1	3	3	1	3	0	1	5	5	0	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:89293364G>T	ENST00000433976.2	+	6	916	c.584G>T	c.(583-585)aGa>aTa	p.R195I	ZNF778_ENST00000306502.6_Missense_Mutation_p.R153I|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACTCGGGACAGATCTCTTGAC	0.478																																						ENST00000433976.2																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24						c.(583-585)aGa>aTa		zinc finger protein 778							147	144	145					16																	89293364		2036	4209	6245	SO:0001583	missense	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89293364G>T	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"Zinc fingers, C2H2-type", "-"	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.584G>T	16.37:g.89293364G>T	ENSP00000405289:p.Arg195Ile					RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.R153I	p.R195I	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	916	+			195					Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	c.584G>T	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	G	4.064	0.009668	0.07912	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.17528	2.27;2.27	1.29	-2.59	0.06209	.	.	.	.	.	T	0.12774	0.0310	L	0.49126	1.545	0.09310	N	1	B;B	0.18013	0.025;0.014	B;B	0.14023	0.01;0.005	T	0.25257	-1.0137	9	0.72032	D	0.01	.	1.855	0.03177	0.2085:0.1744:0.4433:0.1739	.	153;195	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	I	195;153	ENSP00000405289:R195I;ENSP00000305203:R153I	ENSP00000305203:R153I	R	+	2	0	ZNF778	87820865	0.475000	0.25894	0.000000	0.03702	0.000000	0.00434	-0.165000	0.09968	-2.597000	0.00453	-1.947000	0.00488	AGA		0.478	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		4	123	1	0	0.00024832	1	0.000253518	4	123					T	89293364	G	T	89293364	3	4	435	1	0	0	0	0	1	0	0	0	18148	942	33	5	602	5	ZNF778	16	89293364	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	41751	89293364	1061389	7072	27997											
ZNF778	197320	broad.mit.edu	37	chr16	89294899	89294899	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtatgtaaggactgtGgaaaatcttttaagaattcc	12	17	8	4	0	1	1	0	0	1	1	2	3	2	3	1	2	0	2	1	2	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:89294899G>T	ENST00000433976.2	+	6	2451	c.2119G>T	c.(2119-2121)Gga>Tga	p.G707*	ZNF778_ENST00000306502.6_Nonsense_Mutation_p.G665*|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	707					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TAAGGACTGTGGAAAATCTTT	0.343																																						ENST00000433976.2																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24						c.(2119-2121)Gga>Tga		zinc finger protein 778							56	59	58					16																	89294899		1990	4183	6173	SO:0001587	stop_gained	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294899G>T	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"Zinc fingers, C2H2-type", "-"	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.2119G>T	16.37:g.89294899G>T	ENSP00000405289:p.Gly707*					RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Nonsense_Mutation_p.G665*	p.G707*	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	2451	+			707					Q08AG0	Nonsense_Mutation	SNP	ENST00000433976.2	37	c.2119G>T	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	G	37	6.351756	0.97498	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	.	.	.	0.868	-0.724	0.11177	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999985	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.493	0.16787	0.0:0.0:0.6765:0.3234	.	.	.	.	X	707;665	.	ENSP00000305203:G665X	G	+	1	0	ZNF778	87822400	0.900000	0.30661	0.003000	0.11579	0.112000	0.19704	1.342000	0.33919	-0.163000	0.10946	0.306000	0.20318	GGA		0.343	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		18	45	1	0	8.34094e-07	1	8.70022e-07	18	45					T	89294899	G	T	89294899	4	4	435	1	0	0	0	0	0	1	0	0	18148	1349	47	5	2137	5	ZNF778	16	89294899	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1535	89294899	1059854	7073	27998											
ANKRD11	29123	broad.mit.edu	37	chr16	89347321	89347321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagacgccctctggagacgGggtgacagtgacaacggcag	11	4	16	10	3	1	4	0	2	1	2	1	6	1	4	1	4	1	1	1	4	2	0	rs142527333		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:89347321G>A	ENST00000301030.4	-	9	6089	c.5629C>T	c.(5629-5631)Ccg>Tcg	p.P1877S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1877S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1877	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)		TCTGGAGACGGGGTGACAGTG	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		16059	0		0	False		,,,				2504	0					ENST00000301030.4																			0				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						c.(5629-5631)Ccg>Tcg		ankyrin repeat domain 11		G	SER/PRO	8,4388	12.9+/-30.5	0,8,2190	47	52	50		5629	4.6	0.2	16	dbSNP_134	50	0,8600		0,0,4300	yes	missense	ANKRD11	NM_013275.4	74	0,8,6490	AA,AG,GG		0.0,0.182,0.0616	probably-damaging	1877/2664	89347321	8,12988	2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89347321G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5629C>T	16.37:g.89347321G>A	ENSP00000301030:p.Pro1877Ser					ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1877S	p.P1877S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		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)	9	6089	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1877			Pro-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.5629C>T	CCDS32513.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	10.63	1.403194	0.25291	0.00182	0.0	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.36340	1.26;1.26	4.58	4.58	0.56647	.	0.090154	0.45867	D	0.000321	T	0.22627	0.0546	L	0.27053	0.805	0.80722	D	1	B	0.33694	0.421	B	0.30646	0.118	T	0.04811	-1.0925	10	0.10902	T	0.67	.	12.8508	0.57856	0.0:0.1644:0.8356:0.0	.	1877	Q6UB99	ANR11_HUMAN	S	1877	ENSP00000301030:P1877S;ENSP00000367581:P1877S	ENSP00000301030:P1877S	P	-	1	0	ANKRD11	87874822	0.259000	0.24043	0.200000	0.23457	0.013000	0.08279	2.098000	0.41757	2.100000	0.63781	0.450000	0.29827	CCG		0.622	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		17	24	0	0	0	1	0	17	24					A	89347321	G	A	89347321	3	1	435	1	0	0	0	0	1	0	0	0	639	1232	43	3	2382	3	ANKRD11	16	89347321	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	52422	89347321	1007432	7074	27999											
ANKRD11	29123	broad.mit.edu	37	chr16	89348870	89348870	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggctcgctctcggtcgtgGctcttcttggatgaagatga	5	14	13	9	3	3	3	0	2	3	1	6	4	3	4	0	4	0	3	0	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:89348870G>A	ENST00000301030.4	-	9	4540	c.4080C>T	c.(4078-4080)agC>agT	p.S1360S	ANKRD11_ENST00000378330.2_Silent_p.S1360S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1360	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)		CTCGGTCGTGGCTCTTCTTGG	0.567																																						ENST00000301030.4																			0				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						c.(4078-4080)agC>agT		ankyrin repeat domain 11							89	80	83					16																	89348870		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89348870G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4080C>T	16.37:g.89348870G>A						ANKRD11_ENST00000378330.2_Silent_p.S1360S	p.S1360S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		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)	9	4540	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1360			Lys-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.4080C>T	CCDS32513.1																																																																																				0.567	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		16	44	0	0	0	1	0	16	44					A	89348870	G	A	89348870	2	1	435	1	0	0	0	0	0	0	0	1	639	1194	42	3		3	ANKRD11	16	89348870	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1549	89348870	1005883	7075	28000											
ANKRD11	29123	broad.mit.edu	37	chr16	89350369	89350369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtccctgtagtctgtcactgGcgagtcccagctgtcctccc	4	11	10	16	1	2	0	1	0	1	0	6	1	6	0	4	1	1	2	4	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:89350369G>A	ENST00000301030.4	-	9	3041	c.2581C>T	c.(2581-2583)Cca>Tca	p.P861S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P861S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	861	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)		TCTGTCACTGGCGAGTCCCAG	0.542																																						ENST00000301030.4																			0				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						c.(2581-2583)Cca>Tca		ankyrin repeat domain 11							65	68	67					16																	89350369		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89350369G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2581C>T	16.37:g.89350369G>A	ENSP00000301030:p.Pro861Ser					ANKRD11_ENST00000378330.2_Missense_Mutation_p.P861S	p.P861S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		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)	9	3041	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	861			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.2581C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772538	0.49680	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.49139	0.79;0.79	5.14	4.18	0.49190	.	0.000000	0.64402	D	0.000002	T	0.56352	0.1979	L	0.60455	1.87	0.80722	D	1	D;D	0.64830	0.994;0.99	P;P	0.58721	0.844;0.702	T	0.53027	-0.8496	10	0.13108	T	0.6	.	14.1344	0.65276	0.0:0.1498:0.8502:0.0	.	480;861	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	S	861;861;480	ENSP00000301030:P861S;ENSP00000367581:P861S	ENSP00000301030:P861S	P	-	1	0	ANKRD11	87877870	1.000000	0.71417	0.741000	0.31004	0.990000	0.78478	7.163000	0.77524	1.162000	0.42619	0.561000	0.74099	CCA		0.542	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		23	34	0	0	0	1	0	23	34					A	89350369	G	A	89350369	3	1	435	1	0	0	0	0	1	0	0	0	639	1203	42	3	5430	3	ANKRD11	16	89350369	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1499	89350369	1004384	7076	28001											
ANKRD11	29123	broad.mit.edu	37	chr16	89350883	89350883	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttaaagtggtcgcgatcGtgctttaacacttttagctt	8	18	8	7	3	0	0	0	0	0	0	2	1	0	0	0	1	3	2	0	1	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:89350883G>A	ENST00000301030.4	-	9	2527	c.2067C>T	c.(2065-2067)caC>caT	p.H689H	ANKRD11_ENST00000378330.2_Silent_p.H689H	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	689	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)		GGTCGCGATCGTGCTTTAACA	0.338																																						ENST00000301030.4																			0				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						c.(2065-2067)caC>caT		ankyrin repeat domain 11							152	146	148					16																	89350883		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89350883G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2067C>T	16.37:g.89350883G>A						ANKRD11_ENST00000378330.2_Silent_p.H689H	p.H689H	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		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)	9	2527	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	689			Lys-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.2067C>T	CCDS32513.1																																																																																				0.338	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		45	79	0	0	0	1	0	45	79					A	89350883	G	A	89350883	2	1	435	1	0	0	0	0	0	0	0	1	639	1136	40	1		1	ANKRD11	16	89350883	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	514	89350883	1003870	7077	28002											
ZNF276	92822	broad.mit.edu	37	chr16	89804415	89804415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgggttccagtgcaggcagCgggcatccctcaagtaccac	8	7	13	13	1	1	0	1	0	0	0	3	0	3	0	3	3	3	5	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:89804415C>T	ENST00000443381.2	+	11	1703	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	ZNF276_ENST00000568064.1_3'UTR|ZNF276_ENST00000289816.5_Missense_Mutation_p.R461W|ZNF276_ENST00000446326.2_Missense_Mutation_p.R322W|FANCA_ENST00000389301.3_3'UTR	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	536					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GTGCAGGCAGCGGGCATCCCT	0.597																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(1381-1383)Cgg>Tgg		zinc finger protein 276							75	65	69					16																	89804415		2198	4300	6498	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89804415C>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1606C>T	16.37:g.89804415C>T	ENSP00000415836:p.Arg536Trp					ZNF276_ENST00000446326.2_Missense_Mutation_p.R322W|ZNF276_ENST00000443381.2_Missense_Mutation_p.R536W|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000568064.1_3'UTR	p.R461W	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	11	1693	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	536					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.1381C>T	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969657	0.74246	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.79033	-1.23;-1.23;0.11	5.74	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.87120	0.6098	M	0.83312	2.635	0.80722	D	1	P;D;P	0.89917	0.892;1.0;0.892	B;D;B	0.97110	0.376;1.0;0.376	D	0.87836	0.2648	10	0.87932	D	0	-33.6709	9.015	0.36164	0.1459:0.78:0.0:0.0741	.	374;536;322	B4DIT3;Q8N554;A8K186	.;ZN276_HUMAN;.	W	322;461;536	ENSP00000415999:R322W;ENSP00000289816:R461W;ENSP00000415836:R536W	ENSP00000289816:R461W	R	+	1	2	ZNF276	88331916	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.508000	0.35769	1.428000	0.47296	0.555000	0.69702	CGG		0.597	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		10	23	0	0	0	1	0	10	23					T	89804415	C	T	89804415	3	4	435	1	0	0	0	0	1	0	0	0	17808	759	27	1	1648	1	ZNF276	16	89804415	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	453532	89804415	550338	7078	28003											
FANCA	2175	broad.mit.edu	37	chr16	89805299	89805299	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgacgttacctctgccacGtgtgagaagctctttttcgg	6	14	10	11	3	2	2	0	2	2	1	3	3	2	2	2	1	3	2	2	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:89805299G>A	ENST00000389301.3	-	42	4281	c.4251C>T	c.(4249-4251)caC>caT	p.H1417H	ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.R1419C	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1417			H -> D (in FA; dbSNP:rs17227403). {ECO:0000269|PubMed:9371798}.		DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CCTCTGCCACGTGTGAGAAGC	0.532			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000568369.1			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"D, Mis, N, F, S"	"Fanconi anemia, complementation group A"			L		"AML, leukemia"			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(4255-4257)Cgt>Tgt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							80	80	80					16																	89805299		2198	4300	6498	SO:0001819	synonymous_variant	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89805299G>A	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.4251C>T	16.37:g.89805299G>A						FANCA_ENST00000389301.3_Silent_p.H1417H|ZNF276_ENST00000289816.5_3'UTR	p.R1419C			O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	42	4285	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	0					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.4255C>T	CCDS32515.1																																																																																				0.532	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			6	87	0	0	0	1	0	6	87					A	89805299	G	A	89805299	2	1	435	1	0	0	0	0	0	0	0	1	5662	1136	40	1		1	FANCA	16	89805299	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	884	89805299	549454	7079	28004											
DBNDD1	79007	broad.mit.edu	37	chr16	90072796	90072796	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtccaggactgtggcctGccgctcggggtcgcctaggg	3	8	17	13	4	0	0	0	0	0	0	3	1	1	1	4	5	1	1	4	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:90072796G>A	ENST00000002501.6	-	4	555	c.424C>T	c.(424-426)Cag>Tag	p.Q142*	DBNDD1_ENST00000304733.3_Nonsense_Mutation_p.Q162*|DBNDD1_ENST00000568838.1_Nonsense_Mutation_p.Q262*|DBNDD1_ENST00000392973.3_Nonsense_Mutation_p.Q148*	NM_001042610.1	NP_001036075.1	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	142						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|lung(1)	3		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;0.0275)		ACTGTGGCCTGCCGCTCGGGG	0.682																																						ENST00000392973.3																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(442-444)Cag>Tag		dysbindin (dystrobrevin binding protein 1) domain containing 1							33	43	40					16																	90072796		2021	4184	6205	SO:0001587	stop_gained	79007					cytoplasm		g.chr16:90072796G>A	AK090696	CCDS10991.2, CCDS42223.1, CCDS73931.1	16q24.3	2008-02-05			ENSG00000003249	ENSG00000003249			28455	protein-coding gene	gene with protein product						12477932	Standard	NM_001288708		Approved	MGC3101, FLJ12582	uc002fqe.1	Q9H9R9	OTTHUMG00000138984	ENST00000002501.6:c.424C>T	16.37:g.90072796G>A	ENSP00000002501:p.Gln142*					DBNDD1_ENST00000304733.3_Nonsense_Mutation_p.Q162*|DBNDD1_ENST00000002501.6_Nonsense_Mutation_p.Q142*|DBNDD1_ENST00000568838.1_Nonsense_Mutation_p.Q262*	p.Q148*			Q9H9R9	DBND1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	3	1173	-		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)	142					B4DQS3|Q69YT2|Q9BW25	Nonsense_Mutation	SNP	ENST00000002501.6	37	c.442C>T	CCDS42223.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442217	0.63067	.	.	ENSG00000003249	ENST00000304733;ENST00000002501;ENST00000392973	.	.	.	5.64	5.64	0.86602	.	0.087381	0.49305	D	0.000145	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-24.9448	19.2832	0.94060	0.0:0.0:1.0:0.0	.	.	.	.	X	162;142;262	.	ENSP00000002501:Q142X	Q	-	1	0	DBNDD1	88600297	0.865000	0.29922	0.564000	0.28396	0.304000	0.27724	3.437000	0.52863	2.664000	0.90586	0.491000	0.48974	CAG		0.682	DBNDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272872.1	NM_024043		5	8	0	0	0	1	0	5	8					A	90072796	G	A	90072796	4	1	435	1	0	0	0	0	0	1	0	0	4253	1328	46	3	56	3	DBNDD1	16	90072796	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	267497	90072796	281957	7080	28005											
RPH3AL	9501	broad.mit.edu	37	chr17	97005	97005	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtgggggtcatcagctcgGccaggggtcttcaggggcaa	8	7	17	9	1	4	0	3	0	1	0	5	0	4	0	1	7	1	2	1	7	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:97005G>A	ENST00000331302.7	-	7	817	c.510C>T	c.(508-510)ggC>ggT	p.G170G	RPH3AL_ENST00000576001.1_5'UTR|RPH3AL_ENST00000536489.2_Silent_p.G141G|RPH3AL_ENST00000323434.8_Silent_p.G141G	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	170					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			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)		CATCAGCTCGGCCAGGGGTCT	0.627																																						ENST00000323434.8																			0				NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6						c.(421-423)ggC>ggT		rabphilin 3A-like (without C2 domains)							44	48	47					17																	97005		2203	4300	6503	SO:0001819	synonymous_variant	9501				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding	g.chr17:97005G>A		CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"Synaptotagmins"	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.510C>T	17.37:g.97005G>A						RPH3AL_ENST00000536489.2_Silent_p.G141G|RPH3AL_ENST00000576001.1_5'UTR|RPH3AL_ENST00000331302.7_Silent_p.G170G	p.G141G	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN		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)	6	1020	-			170			RabBD.		D3DTG7|Q9BSB3	Silent	SNP	ENST00000331302.7	37	c.423C>T	CCDS10994.1																																																																																				0.627	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2	NM_006987		3	17	0	0	0	1	0	3	17					A	97005	G	A	97005	2	1	435	1	0	0	0	0	0	0	0	1	13552	1190	42	3		3	RPH3AL	17	97005	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08		97005	81098205	7081	28006											
FAM101B	359845	broad.mit.edu	37	chr17	293240	293240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggggcagctgcacgtcGtcgatgaagtgcctctcgga	7	7	14	13	4	1	1	0	1	1	0	4	3	1	2	2	3	3	3	2	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:293240G>A	ENST00000329099.4	-	2	149	c.150C>T	c.(148-150)gaC>gaT	p.D50D		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	120					actin cytoskeleton organization (GO:0030036)|epithelial to mesenchymal transition (GO:0001837)	actin cytoskeleton (GO:0015629)	filamin binding (GO:0031005)	p.D50D(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		GCTGCACGTCGTCGATGAAGT	0.657																																						ENST00000329099.4																			2	Substitution - coding silent(2)	p.D50D(2)	large_intestine(1)|breast(1)	breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13						c.(148-150)gaC>gaT		family with sequence similarity 101, member B							62	69	66					17																	293240		2154	4253	6407	SO:0001819	synonymous_variant	359845							g.chr17:293240G>A			17p13	2008-10-23			ENSG00000183688	ENSG00000183688			28705	protein-coding gene	gene with protein product		615928				12477932	Standard	NM_182705		Approved	MGC45871	uc002frj.3	Q8N5W9	OTTHUMG00000132483	ENST00000329099.4:c.150C>T	17.37:g.293240G>A							p.D50D	NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)	2	149	-		Myeloproliferative disorder(207;0.204)	120						Silent	SNP	ENST00000329099.4	37	c.150C>T																																																																																					0.657	FAM101B-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255652.1	NM_182705		22	48	0	0	0	1	0	22	48					A	293240	G	A	293240	2	1	435	1	0	0	0	0	0	0	0	1	5381	1136	40	1		1	FAM101B	17	293240	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	196235	293240	80901970	7082	28007											
VPS53	55275	broad.mit.edu	37	chr17	526807	526807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagggtgcagccggagaagCgttttgcaagaaacccctca	11	7	12	11	2	2	2	2	0	0	2	2	3	2	2	3	2	5	3	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:526807C>T	ENST00000571805.1	-	11	1218	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000437048.2_Missense_Mutation_p.R361H|VPS53_ENST00000446250.2_Missense_Mutation_p.R163H|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.R332H|VPS53_ENST00000401468.3_Intron			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	361					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCCGGAGAAGCGTTTTGCAAG	0.488																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(1081-1083)cGc>cAc		vacuolar protein sorting 53 homolog (S. cerevisiae)							104	97	100					17																	526807		2203	4300	6503	SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:526807C>T		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1082G>A	17.37:g.526807C>T	ENSP00000459312:p.Arg361His					VPS53_ENST00000571805.1_Missense_Mutation_p.R361H|VPS53_ENST00000291074.5_Missense_Mutation_p.R332H|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_Missense_Mutation_p.R163H	p.R361H	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	11	1228	-			361					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.1082G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.435737	0.96168	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000389040	T;T;T;T	0.42131	0.98;0.98;0.98;1.16	5.7	5.7	0.88788	Vps53-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71660	0.3366	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.987;0.987;0.992;0.987	T	0.76838	-0.2811	10	0.87932	D	0	-17.199	18.8293	0.92132	0.0:1.0:0.0:0.0	.	361;163;361;332	Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	H	361;163;332;313	ENSP00000401435:R361H;ENSP00000394386:R163H;ENSP00000291074:R332H;ENSP00000373692:R313H	ENSP00000291074:R332H	R	-	2	0	VPS53	473557	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.783000	0.68982	2.683000	0.91414	0.655000	0.94253	CGC		0.488	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		11	43	0	0	0	1	0	11	43					T	526807	C	T	526807	3	4	435	1	0	0	0	0	1	0	0	0	17212	768	27	1	1479	1	VPS53	17	526807	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	233567	526807	80668403	7083	28008											
VPS53	55275	broad.mit.edu	37	chr17	526886	526886	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcaatttccttcgctcTggtacgcataatcttggcaa	9	14	6	12	2	3	0	1	0	2	0	5	0	4	0	1	2	1	4	1	2	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:526886T>C	ENST00000571805.1	-	11	1139	c.1003A>G	c.(1003-1005)Aga>Gga	p.R335G	VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000437048.2_Missense_Mutation_p.R335G|VPS53_ENST00000446250.2_Missense_Mutation_p.R137G|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.R306G|VPS53_ENST00000401468.3_Intron			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	335					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TCCTTCGCTCTGGTACGCATA	0.403																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(1003-1005)Aga>Gga		vacuolar protein sorting 53 homolog (S. cerevisiae)							84	76	79					17																	526886		2203	4300	6503	SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:526886T>C		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1003A>G	17.37:g.526886T>C	ENSP00000459312:p.Arg335Gly					VPS53_ENST00000571805.1_Missense_Mutation_p.R335G|VPS53_ENST00000291074.5_Missense_Mutation_p.R306G|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_Missense_Mutation_p.R137G	p.R335G	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	11	1149	-			335					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.1003A>G		.	.	.	.	.	.	.	.	.	.	T	19.57	3.852638	0.71719	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000389040	T;T;T;T	0.34472	1.36;1.36;1.36;1.37	5.7	4.62	0.57501	Vps53-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58708	0.2141	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.69078	0.997;0.995;0.996;0.995	D;D;D;D	0.76575	0.928;0.98;0.988;0.972	T	0.63721	-0.6573	10	0.87932	D	0	-22.9294	12.9699	0.58508	0.0:0.0:0.1642:0.8358	.	335;137;335;306	Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	G	335;137;306;287	ENSP00000401435:R335G;ENSP00000394386:R137G;ENSP00000291074:R306G;ENSP00000373692:R287G	ENSP00000291074:R306G	R	-	1	2	VPS53	473636	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.661000	0.46758	2.168000	0.68352	0.533000	0.62120	AGA		0.403	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		8	35	0	0	0	1	0	8	35					C	526886	T	C	526886	3	2	435	1	0	0	0	0	1	0	0	0	17212	1588	55	4	1558	4	VPS53	17	526886	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	79	526886	80668324	7084	28009											
FAM57A	79850	broad.mit.edu	37	chr17	641189	641189	+	Missense_Mutation	SNP	C	C	T																															gccgaaccagagaccagaacCgtgcgccctccctcactctt																								rs371723776		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:641189C>T	ENST00000308278.8	+	3	546	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C	FAM57A_ENST00000301324.8_Missense_Mutation_p.R104C|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	104	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R104C(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		AGACCAGAACCGTGCGCCCTC	0.517																																						ENST00000308278.8																			1	Substitution - Missense(1)	p.R104C(1)	large_intestine(1)	cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10						c.(310-312)Cgt>Tgt		family with sequence similarity 57, member A		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	213	185	194		310	2.5	0	17		194	0,8600		0,0,4300	no	missense	FAM57A	NM_024792.1	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	104/258	641189	1,13005	2203	4300	6503	SO:0001583	missense	79850					integral to membrane|plasma membrane		g.chr17:641189C>T	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.310C>T	17.37:g.641189C>T	ENSP00000312017:p.Arg104Cys					FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Missense_Mutation_p.R104C	p.R104C	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	3	546	+			104			TLC.		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Missense_Mutation	SNP	ENST00000308278.8	37	c.310C>T	CCDS10996.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726624	0.30593	2.27E-4	0.0	ENSG00000167695	ENST00000308278;ENST00000301324;ENST00000451373	.	.	.	5.89	2.52	0.30459	TRAM/LAG1/CLN8 homology domain (3);	3.888680	0.03023	U	0.151098	T	0.41511	0.1162	L	0.29908	0.895	0.09310	N	1	B;B	0.14438	0.01;0.005	B;B	0.08055	0.002;0.003	T	0.37979	-0.9682	9	0.59425	D	0.04	0.666	10.9356	0.47243	0.3059:0.6241:0.0:0.07	.	104;104	Q8TBR7-1;Q8TBR7	.;FA57A_HUMAN	C	104;104;177	.	ENSP00000301324:R104C	R	+	1	0	FAM57A	587939	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	0.600000	0.24104	0.824000	0.34613	0.638000	0.83543	CGT		0.517	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	NM_024792		11	153	0	0	0	1	0	11	153					T	641189	C	T	641189	3	4	435	1	0	0	0	0	1	0	0	0	5588	652	23	2	320	2	FAM57A	17	641189	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	114303	641189	80554021	7085	28010	129	2									
FAM57A	79850	broad.mit.edu	37	chr17	641198	641198	+	Missense_Mutation	SNP	T	T	C																															gagaccagaaccgtgcgcccTccctcactcttcgaaacttc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:641198T>C	ENST00000308278.8	+	3	555	c.319T>C	c.(319-321)Tcc>Ccc	p.S107P	FAM57A_ENST00000301324.8_Missense_Mutation_p.S107P|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	107	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		CCGTGCGCCCTCCCTCACTCT	0.512																																						ENST00000308278.8																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10						c.(319-321)Tcc>Ccc		family with sequence similarity 57, member A							201	173	182					17																	641198		2203	4300	6503	SO:0001583	missense	79850					integral to membrane|plasma membrane		g.chr17:641198T>C	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.319T>C	17.37:g.641198T>C	ENSP00000312017:p.Ser107Pro					FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Missense_Mutation_p.S107P	p.S107P	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	3	555	+			107			TLC.		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Missense_Mutation	SNP	ENST00000308278.8	37	c.319T>C	CCDS10996.1	.	.	.	.	.	.	.	.	.	.	T	8.199	0.797772	0.16327	.	.	ENSG00000167695	ENST00000308278;ENST00000301324;ENST00000451373	.	.	.	5.89	-1.76	0.08006	TRAM/LAG1/CLN8 homology domain (3);	88.204300	0.00698	U	0.000770	T	0.32585	0.0834	L	0.45137	1.4	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.004;0.005	T	0.07849	-1.0751	9	0.33141	T	0.24	-6.8883	2.5536	0.04755	0.2835:0.062:0.2179:0.4365	.	107;107	Q8TBR7-1;Q8TBR7	.;FA57A_HUMAN	P	107;107;180	.	ENSP00000301324:S107P	S	+	1	0	FAM57A	587948	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.474000	0.22148	-0.268000	0.09312	0.519000	0.50382	TCC		0.512	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	NM_024792		56	95	0	0	0	1	0	56	95					C	641198	T	C	641198	3	2	435	1	0	0	0	0	1	0	0	0	5588	1551	54	4	329	4	FAM57A	17	641198	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	9	641198	80554012	7086	28011	129	2									
GEMIN4	50628	broad.mit.edu	37	chr17	651194	651194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgttaattctgccagtGccttagggtggaacagctgc	8	13	11	9	0	1	0	0	0	1	0	1	1	1	1	2	2	5	2	2	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:651194G>A	ENST00000319004.5	-	2	207	c.89C>T	c.(88-90)gCa>gTa	p.A30V	GEMIN4_ENST00000576778.1_Missense_Mutation_p.A19V|GEMIN4_ENST00000437269.1_Missense_Mutation_p.A30V	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	30					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TTCTGCCAGTGCCTTAGGGTG	0.532																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(55-57)gCa>gTa		gem (nuclear organelle) associated protein 4							30	32	31					17																	651194		1989	4172	6161	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:651194G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.89C>T	17.37:g.651194G>A	ENSP00000321706:p.Ala30Val					GEMIN4_ENST00000319004.5_Missense_Mutation_p.A30V|GEMIN4_ENST00000437269.1_Missense_Mutation_p.A30V	p.A19V			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	1397	-		Myeloproliferative disorder(207;0.204)	30					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.56C>T	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581522	0.28180	.	.	ENSG00000179409	ENST00000319004;ENST00000437269	T;T	0.23950	1.88;1.88	5.66	2.64	0.31445	.	0.403237	0.28268	N	0.015979	T	0.34890	0.0913	L	0.60455	1.87	0.09310	N	1	B;D	0.56287	0.001;0.975	B;P	0.53861	0.002;0.736	T	0.10965	-1.0607	10	0.46703	T	0.11	-0.1124	9.7696	0.40580	0.2241:0.0:0.7759:0.0	.	30;30	E7EN12;P57678	.;GEMI4_HUMAN	V	30	ENSP00000321706:A30V;ENSP00000392460:A30V	ENSP00000321706:A30V	A	-	2	0	GEMIN4	597944	0.026000	0.19158	0.277000	0.24703	0.006000	0.05464	1.738000	0.38207	0.356000	0.24157	-0.136000	0.14681	GCA		0.532	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		6	13	0	0	0	1	0	6	13					A	651194	G	A	651194	3	1	435	1	0	0	0	0	1	0	0	0	6330	1319	46	3	3091	3	GEMIN4	17	651194	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9996	651194	80544016	7087	28012											
NXN	64359	broad.mit.edu	37	chr17	704209	704209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagatgggctccggtttgaGcttctctgctaggaagtcat	7	13	12	9	1	2	2	1	1	1	1	4	3	3	3	1	3	2	4	1	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:704209G>A	ENST00000336868.3	-	8	1379	c.1288C>T	c.(1288-1290)Ctc>Ttc	p.L430F	NXN_ENST00000538650.1_Missense_Mutation_p.L121F|NXN_ENST00000575801.1_Missense_Mutation_p.L322F|NXN_ENST00000537628.2_Missense_Mutation_p.L181F	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	430					cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCCGGTTTGAGCTTCTCTGCT	0.577																																						ENST00000336868.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13						c.(1288-1290)Ctc>Ttc		nucleoredoxin							50	49	49					17																	704209		2203	4300	6503	SO:0001583	missense	64359				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	g.chr17:704209G>A		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.1288C>T	17.37:g.704209G>A	ENSP00000337443:p.Leu430Phe					NXN_ENST00000538650.1_Missense_Mutation_p.L121F|NXN_ENST00000537628.2_Missense_Mutation_p.L181F|NXN_ENST00000575801.1_Missense_Mutation_p.L322F	p.L430F	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	8	1379	-			430					B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	ENST00000336868.3	37	c.1288C>T	CCDS10998.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036968	0.93630	.	.	ENSG00000167693	ENST00000336868;ENST00000538650;ENST00000537628	T;T	0.18338	2.22;2.22	5.99	5.99	0.97316	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.995;0.997;0.999	D;D;D	0.80764	0.969;0.986;0.994	T	0.01583	-1.1319	10	0.72032	D	0.01	-25.3824	19.0415	0.93002	0.0:0.0:1.0:0.0	.	322;121;430	B4DXQ0;B4DNN6;Q6DKJ4	.;.;NXN_HUMAN	F	430;121;322	ENSP00000337443:L430F;ENSP00000445087:L121F	ENSP00000337443:L430F	L	-	1	0	NXN	650959	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.837000	0.99465	2.840000	0.97914	0.655000	0.94253	CTC		0.577	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			8	15	0	0	0	1	0	8	15					A	704209	G	A	704209	3	1	435	1	0	0	0	0	1	0	0	0	10787	971	34	3	23	3	NXN	17	704209	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	53015	704209	80491001	7088	28013											
NXN	64359	broad.mit.edu	37	chr17	704251	704251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaaggcctccacgatggCgggggtgatctcctccacgt	8	7	12	14	3	1	1	0	1	1	0	4	2	3	1	4	4	0	0	4	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:704251C>T	ENST00000336868.3	-	8	1337	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	NXN_ENST00000538650.1_Missense_Mutation_p.A107T|NXN_ENST00000575801.1_Missense_Mutation_p.A308T|NXN_ENST00000537628.2_Missense_Mutation_p.A167T	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	416					cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCCACGATGGCGGGGGTGATC	0.572																																						ENST00000336868.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13						c.(1246-1248)Gcc>Acc		nucleoredoxin							65	61	62					17																	704251		2203	4300	6503	SO:0001583	missense	64359				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	g.chr17:704251C>T		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.1246G>A	17.37:g.704251C>T	ENSP00000337443:p.Ala416Thr					NXN_ENST00000538650.1_Missense_Mutation_p.A107T|NXN_ENST00000537628.2_Missense_Mutation_p.A167T|NXN_ENST00000575801.1_Missense_Mutation_p.A308T	p.A416T	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	8	1337	-			416					B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	ENST00000336868.3	37	c.1246G>A	CCDS10998.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272363	0.80580	.	.	ENSG00000167693	ENST00000336868;ENST00000538650;ENST00000537628	T;T	0.14144	2.53;2.53	5.99	5.99	0.97316	Thioredoxin-like fold (1);	0.108371	0.64402	D	0.000008	T	0.14917	0.0360	L	0.36672	1.1	0.58432	D	0.999993	P;B;D	0.53151	0.512;0.048;0.958	B;B;B	0.41571	0.098;0.005;0.36	T	0.00649	-1.1627	10	0.45353	T	0.12	-21.1043	19.0415	0.93002	0.0:1.0:0.0:0.0	.	308;107;416	B4DXQ0;B4DNN6;Q6DKJ4	.;.;NXN_HUMAN	T	416;107;308	ENSP00000337443:A416T;ENSP00000445087:A107T	ENSP00000337443:A416T	A	-	1	0	NXN	651001	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	7.794000	0.85869	2.840000	0.97914	0.655000	0.94253	GCC		0.572	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			12	21	0	0	0	1	0	12	21					T	704251	C	T	704251	3	4	435	1	0	0	0	0	1	0	0	0	10787	768	27	1	65	1	NXN	17	704251	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	42	704251	80490959	7089	28014											
TIMM22	29928	broad.mit.edu	37	chr17	902045	902045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttaggaggtgcatttgggGtgtttaccgctggcatcgat	6	14	14	7	2	1	0	0	0	1	0	2	2	1	1	1	5	2	4	1	5	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:902045G>A	ENST00000327158.4	+	2	291	c.265G>A	c.(265-267)Gtg>Atg	p.V89M		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	89					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGCATTTGGGGTGTTTACCGC	0.483																																						ENST00000327158.3																			0				breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(265-267)Gtg>Atg		translocase of inner mitochondrial membrane 22 homolog (yeast)							315	254	274					17																	902045		2203	4300	6503	SO:0001583	missense	29928				transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr17:902045G>A	AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"testis-expressed sequence 4"	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.265G>A	17.37:g.902045G>A	ENSP00000320236:p.Val89Met						p.V89M	NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	2	291	+			89					Q9NWI8	Missense_Mutation	SNP	ENST00000327158.4	37	c.265G>A	CCDS32521.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598020	0.66332	.	.	ENSG00000177370	ENST00000327158	T	0.31247	1.5	5.36	4.37	0.52481	.	0.168201	0.51477	D	0.000091	T	0.32164	0.0820	N	0.16368	0.405	0.42732	D	0.993715	P	0.45634	0.863	P	0.57204	0.815	T	0.12066	-1.0562	10	0.51188	T	0.08	-10.9602	10.0607	0.42273	0.1749:0.0:0.8251:0.0	.	89	Q9Y584	TIM22_HUMAN	M	89	ENSP00000320236:V89M	ENSP00000320236:V89M	V	+	1	0	TIMM22	848795	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.124000	0.50461	1.225000	0.43566	0.491000	0.48974	GTG		0.483	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450107.2	NM_013337		42	72	0	0	0	1	0	42	72					A	902045	G	A	902045	3	1	435	1	0	0	0	0	1	0	0	0	15907	1261	44	3	271	3	TIMM22	17	902045	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	197794	902045	80293165	7090	28015											
ABR	29	broad.mit.edu	37	chr17	916348	916348	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccatccccggctcaccccGttcatctcaatcacgtccgt	6	10	5	20	4	4	0	4	0	1	0	8	0	7	0	6	1	0	2	6	1	1	1	rs141106809		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:916348G>A	ENST00000302538.5	-	17	1994	c.1848C>T	c.(1846-1848)aaC>aaT	p.N616N	ABR_ENST00000572441.1_Silent_p.N67N|ABR_ENST00000574437.1_Silent_p.N570N|ABR_ENST00000291107.2_Silent_p.N579N|ABR_ENST00000543210.2_Silent_p.N67N|ABR_ENST00000536794.2_Silent_p.N398N|ABR_ENST00000544583.2_Silent_p.N570N	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	616					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGCTCACCCCGTTCATCTCAA	0.642													G|||	1	0.000199681	0	0	5008	,	,		15502	0		0	False		,,,				2504	0.001				Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1708-1710)aaC>aaT		active BCR-related		G	,,	2,4404	4.2+/-10.8	0,2,2201	223	169	187		1737,1710,1848	-9.8	0.6	17	dbSNP_134	187	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ABR	NM_001092.3,NM_001159746.1,NM_021962.2	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	579/823,570/814,616/860	916348	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	29				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	g.chr17:916348G>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1848C>T	17.37:g.916348G>A						ABR_ENST00000574437.1_Silent_p.N570N|ABR_ENST00000536794.2_Silent_p.N398N|ABR_ENST00000572441.1_Silent_p.N67N|ABR_ENST00000543210.2_Silent_p.N67N|ABR_ENST00000291107.2_Silent_p.N579N|ABR_ENST00000302538.5_Silent_p.N616N	p.N570N	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	17	2309	-			616			C2.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	c.1710C>T	CCDS10999.1																																																																																				0.642	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			25	41	0	0	0	1	0	25	41					A	916348	G	A	916348	2	1	435	1	0	0	0	0	0	0	0	1	99	1136	40	1		1	ABR	17	916348	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14303	916348	80278862	7091	28016											
ABR	29	broad.mit.edu	37	chr17	994938	994938	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggtggcccatggtgacctgGctgtcccactgttgcacctt	5	11	12	13	0	0	1	0	1	0	0	1	1	1	1	4	4	1	3	4	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:994938G>A	ENST00000302538.5	-	4	644	c.498C>T	c.(496-498)agC>agT	p.S166S	ABR_ENST00000574437.1_Silent_p.S120S|ABR_ENST00000291107.2_Silent_p.S129S|ABR_ENST00000544583.2_Silent_p.S120S	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	166	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TGGTGACCTGGCTGTCCCACT	0.567																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(358-360)agC>agT		active BCR-related							138	119	125					17																	994938		2203	4300	6503	SO:0001819	synonymous_variant	29				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	g.chr17:994938G>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.498C>T	17.37:g.994938G>A						ABR_ENST00000574437.1_Silent_p.S120S|ABR_ENST00000291107.2_Silent_p.S129S|ABR_ENST00000302538.5_Silent_p.S166S	p.S120S	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	4	959	-			166			DH.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	c.360C>T	CCDS10999.1																																																																																				0.567	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			31	37	0	0	0	1	0	31	37					A	994938	G	A	994938	2	1	435	1	0	0	0	0	0	0	0	1	99	1194	42	3		3	ABR	17	994938	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	78590	994938	80200272	7092	28017											
ABR	29	broad.mit.edu	37	chr17	1028642	1028642	+	Frame_Shift_Del	DEL	G	G	-																															gcatggtctctgagccctccGggggccccttctgctcctca																								rs573239507		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1028642delG	ENST00000302538.5	-	2	268	c.122delC	c.(121-123)ccgfs	p.P41fs	ABR_ENST00000574437.1_5'UTR|ABR_ENST00000544583.2_5'UTR	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	41					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P41fs*51(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TGAGCCCTCCGGGGGCCCCTT	0.642																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000302538.5																			1	Deletion - Frameshift(1)	p.P41fs*51(1)	lung(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(121-123)cgfs		active BCR-related							123	112	116					17																	1028642		2203	4300	6503	SO:0001589	frameshift_variant	29				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	g.chr17:1028642delG	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.122delC	17.37:g.1028642delG	ENSP00000303909:p.Pro41fs					ABR_ENST00000544583.2_5'UTR|ABR_ENST00000574437.1_5'UTR	p.P41fs	NM_021962.3	NP_068781.2	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	2	268	-			41					B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Frame_Shift_Del	DEL	ENST00000302538.5	37	c.122delC	CCDS10999.1																																																																																				0.642	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			32	71						32	71	---	---	---	---	-	1028642	G	-	1028642	7	5	435	1	0	1	0	1	0	0	0	0	99	1116	39	0	2684	0	ABR	17	1028642	Frame_Shift_Del	DEL	G	TCGA-XK-AAIW-01A-11D-A41K-08	33704	1028642	80166568	7093	28018											
CRK	1398	broad.mit.edu	37	chr17	1339932	1339932	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctccaaagccaaggctgtCttgtcgtaggcattggggac	9	9	12	11	1	1	0	0	0	1	0	3	1	2	1	3	4	1	3	3	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1339932C>T	ENST00000300574.2	-	2	899	c.759G>A	c.(757-759)aaG>aaA	p.K253K	CRK_ENST00000398970.5_Intron|CRK_ENST00000574295.1_Intron|CRK_ENST00000572145.1_Intron	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	253	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		CCAAGGCTGTCTTGTCGTAGG	0.527																																						ENST00000300574.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9						c.(757-759)aaG>aaA		v-crk avian sarcoma virus CT10 oncogene homolog							97	85	89					17																	1339932		2203	4300	6503	SO:0001819	synonymous_variant	1398				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding	g.chr17:1339932C>T	D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"SH2 domain containing"	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.759G>A	17.37:g.1339932C>T						CRK_ENST00000574295.1_Intron|CRK_ENST00000572145.1_Intron|CRK_ENST00000398970.5_Intron	p.K253K	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.083)	2	899	-			253			SH3 2.		A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Silent	SNP	ENST00000300574.2	37	c.759G>A	CCDS11002.1																																																																																				0.527	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206679.1	NM_016823		17	70	0	0	0	1	0	17	70					T	1339932	C	T	1339932	2	4	435	1	0	0	0	0	0	0	0	1	3884	912	32	3		3	CRK	17	1339932	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	311290	1339932	79855278	7094	28019											
CRK	1398	broad.mit.edu	37	chr17	1340400	1340400	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaattccagtaaagcaggCaatgaatcaaactcttgatc	16	10	7	8	0	2	3	1	2	1	1	4	3	3	3	1	1	2	3	1	1	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1340400C>T	ENST00000300574.2	-	2	431	c.291G>A	c.(289-291)ttG>ttA	p.L97L	CRK_ENST00000398970.5_Silent_p.L97L|CRK_ENST00000574295.1_Silent_p.L97L|CRK_ENST00000572145.1_5'UTR	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	97	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		GTAAAGCAGGCAATGAATCAA	0.438																																						ENST00000300574.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9						c.(289-291)ttG>ttA		v-crk avian sarcoma virus CT10 oncogene homolog							81	75	77					17																	1340400		2203	4300	6503	SO:0001819	synonymous_variant	1398				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding	g.chr17:1340400C>T	D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"SH2 domain containing"	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.291G>A	17.37:g.1340400C>T						CRK_ENST00000574295.1_Silent_p.L97L|CRK_ENST00000572145.1_5'UTR|CRK_ENST00000398970.5_Silent_p.L97L	p.L97L	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.083)	2	431	-			97			SH2.		A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Silent	SNP	ENST00000300574.2	37	c.291G>A	CCDS11002.1																																																																																				0.438	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206679.1	NM_016823		14	44	0	0	0	1	0	14	44					T	1340400	C	T	1340400	2	4	435	1	0	0	0	0	0	0	0	1	3884	709	25	3		3	CRK	17	1340400	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	468	1340400	79854810	7095	28020											
MYO1C	4641	broad.mit.edu	37	chr17	1386310	1386310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcacagcctggtcccgacGctccgtgcgcagtgctcggt	5	8	12	16	5	1	0	1	0	0	0	4	1	3	0	3	2	3	3	3	2	0	0	rs200048542		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1386310G>A	ENST00000575158.1	-	4	462	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	MYO1C_ENST00000573198.1_5'Flank|MYO1C_ENST00000361007.2_Missense_Mutation_p.R96C|MYO1C_ENST00000359786.5_Missense_Mutation_p.R131C|MYO1C_ENST00000438665.2_Missense_Mutation_p.R112C|MYO1C_ENST00000545534.2_Missense_Mutation_p.R107C			Q12965	MYO1E_HUMAN	myosin IC	103	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGGTCCCGACGCTCCGTGCGC	0.672																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(391-393)Cgt>Tgt		myosin IC		G	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	26	25	26		391,334,286	4.4	1	17		26	2,8596	2.2+/-6.3	0,2,4297	yes	missense,missense,missense	MYO1C	NM_001080779.1,NM_001080950.1,NM_033375.4	180,180,180	0,3,6499	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging	131/1064,112/1045,96/1029	1386310	3,13001	2203	4299	6502	SO:0001583	missense	4641				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	g.chr17:1386310G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.286C>T	17.37:g.1386310G>A	ENSP00000459174:p.Arg96Cys					MYO1C_ENST00000545534.2_Missense_Mutation_p.R107C|MYO1C_ENST00000361007.2_Missense_Mutation_p.R96C|MYO1C_ENST00000438665.2_Missense_Mutation_p.R112C|MYO1C_ENST00000575158.1_Missense_Mutation_p.R96C	p.R131C	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	4	715	-			131			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.391C>T	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428657	0.43122	2.27E-4	2.33E-4	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.45	4.43	0.53597	Myosin head, motor domain (2);	0.098876	0.64402	D	0.000005	D	0.82770	0.5109	M	0.80183	2.485	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.994	P;P;P	0.61658	0.892;0.892;0.827	T	0.82261	-0.0545	10	0.39692	T	0.17	.	10.5968	0.45343	0.0:0.0:0.6223:0.3777	.	107;131;112	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	C	131;112;112;96;107;96	ENSP00000352834:R131C;ENSP00000412197:R112C;ENSP00000354283:R96C;ENSP00000437685:R107C	ENSP00000352834:R131C	R	-	1	0	MYO1C	1333060	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	1.200000	0.32247	2.548000	0.85928	0.462000	0.41574	CGT		0.672	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			7	9	0	0	0	1	0	7	9					A	1386310	G	A	1386310	3	1	435	1	0	0	0	0	1	0	0	0	10070	1087	38	1	2916	1	MYO1C	17	1386310	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	45910	1386310	79808900	7096	28021											
INPP5K	51763	broad.mit.edu	37	chr17	1401384	1401384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttcagcctccacaggatgCgatcggtccatgcaggcttg	7	9	12	13	2	1	0	1	0	0	0	4	2	3	1	3	3	3	3	3	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1401384C>T	ENST00000421807.2	-	8	1197	c.809G>A	c.(808-810)cGc>cAc	p.R270H	INPP5K_ENST00000542125.1_Missense_Mutation_p.R174H|INPP5K_ENST00000397335.3_Missense_Mutation_p.R178H|INPP5K_ENST00000406424.4_Missense_Mutation_p.R194H|INPP5K_ENST00000320345.6_Missense_Mutation_p.R194H	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	270	Catalytic. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						CCACAGGATGCGATCGGTCCA	0.582																																						ENST00000406424.4																			0				endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						c.(580-582)cGc>cAc		inositol polyphosphate-5-phosphatase K							102	107	106					17																	1401384		2203	4300	6503	SO:0001583	missense	51763				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 trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding	g.chr17:1401384C>T		CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"skeletal muscle and kidney enriched inositol phosphatase"	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.809G>A	17.37:g.1401384C>T	ENSP00000413937:p.Arg270His					INPP5K_ENST00000397335.3_Missense_Mutation_p.R178H|INPP5K_ENST00000421807.2_Missense_Mutation_p.R270H|INPP5K_ENST00000542125.1_Missense_Mutation_p.R174H|INPP5K_ENST00000320345.6_Missense_Mutation_p.R194H	p.R194H	NM_001135642.1	NP_001129114.1	Q9BT40	INP5K_HUMAN			10	1441	-			270			Catalytic (Potential).		B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Missense_Mutation	SNP	ENST00000421807.2	37	c.581G>A	CCDS11004.1	.	.	.	.	.	.	.	.	.	.	C	34	5.305769	0.95601	.	.	ENSG00000132376	ENST00000421807;ENST00000406424;ENST00000350761;ENST00000320345;ENST00000397335;ENST00000542125;ENST00000449479	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38	5.53	5.53	0.82687	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.104107	0.64402	D	0.000006	D	0.94159	0.8126	H	0.98769	4.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96109	0.9075	10	0.87932	D	0	-14.836	16.5358	0.84373	0.0:1.0:0.0:0.0	.	174;270	F5GXZ0;Q9BT40	.;INP5K_HUMAN	H	194;194;270;194;178;174;178	ENSP00000385177:R194H;ENSP00000318476:R194H;ENSP00000380496:R178H;ENSP00000440147:R174H;ENSP00000413259:R178H	ENSP00000318476:R194H	R	-	2	0	INPP5K	1348134	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.333000	0.72939	2.750000	0.94351	0.655000	0.94253	CGC		0.582	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4			44	76	0	0	0	1	0	44	76					T	1401384	C	T	1401384	3	4	435	1	0	0	0	0	1	0	0	0	7760	768	27	1	557	1	INPP5K	17	1401384	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15074	1401384	79793826	7097	28022											
PRPF8	10594	broad.mit.edu	37	chr17	1577960	1577960	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgatgatcccatatgaattCgtatggttcatgtcctagaa	11	14	8	8	1	1	4	1	3	0	1	4	4	3	4	2	1	0	2	2	1	5	5	rs199743069		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1577960C>T	ENST00000572621.1	-	20	3340	c.3075G>A	c.(3073-3075)acG>acA	p.T1025T	PRPF8_ENST00000304992.6_Silent_p.T1025T			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1025	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			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)		CATATGAATTCGTATGGTTCA	0.458																																						ENST00000572621.1																			0				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						c.(3073-3075)acG>acA		pre-mRNA processing factor 8							161	159	160					17																	1577960		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1577960C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3075G>A	17.37:g.1577960C>T						PRPF8_ENST00000304992.6_Silent_p.T1025T	p.T1025T			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	20	3340	-			1025					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.3075G>A	CCDS11010.1																																																																																				0.458	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			27	139	0	0	0	1	0	27	139					T	1577960	C	T	1577960	2	4	435	1	0	0	0	0	0	0	0	1	12575	871	31	2		2	PRPF8	17	1577960	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	176576	1577960	79617250	7098	28023											
PRPF8	10594	broad.mit.edu	37	chr17	1584933	1584933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggcggtagagagtcgaCatcataggtagtgtgaactg	11	8	15	7	2	1	2	1	1	0	1	2	4	1	2	1	3	1	2	1	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1584933C>T	ENST00000572621.1	-	5	970	c.705G>A	c.(703-705)atG>atA	p.M235I	PRPF8_ENST00000304992.6_Missense_Mutation_p.M235I			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	235					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			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)		AGAGAGTCGACATCATAGGTA	0.478																																						ENST00000572621.1																			0				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						c.(703-705)atG>atA		pre-mRNA processing factor 8							138	134	135					17																	1584933		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1584933C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.705G>A	17.37:g.1584933C>T	ENSP00000460348:p.Met235Ile					PRPF8_ENST00000304992.6_Missense_Mutation_p.M235I	p.M235I			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	5	970	-			235					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.705G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714963	0.68844	.	.	ENSG00000174231	ENST00000304992	D	0.81499	-1.5	5.84	5.84	0.93424	Pre-mRNA-processing-splicing factor 8 (1);	0.000000	0.85682	D	0.000000	D	0.82305	0.5008	M	0.75085	2.285	0.80722	D	1	B	0.19706	0.038	B	0.19148	0.024	T	0.77675	-0.2499	10	0.49607	T	0.09	.	20.1381	0.98040	0.0:1.0:0.0:0.0	.	235	Q6P2Q9	PRP8_HUMAN	I	235	ENSP00000304350:M235I	ENSP00000304350:M235I	M	-	3	0	PRPF8	1531683	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.792000	0.85828	2.763000	0.94921	0.650000	0.86243	ATG		0.478	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			26	62	0	0	0	1	0	26	62					T	1584933	C	T	1584933	3	4	435	1	0	0	0	0	1	0	0	0	12575	478	17	3	6454	3	PRPF8	17	1584933	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6973	1584933	79610277	7099	28024											
PRPF8	10594	broad.mit.edu	37	chr17	1585167	1585167	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagtccaacacaggggcGtcctcctcagggtccagctc	9	6	10	16	1	1	0	1	0	0	0	6	0	5	0	5	3	3	1	5	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1585167G>A	ENST00000572621.1	-	4	865	c.600C>T	c.(598-600)gaC>gaT	p.D200D	PRPF8_ENST00000304992.6_Silent_p.D200D			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	200					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			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)		ACACAGGGGCGTCCTCCTCAG	0.542																																						ENST00000572621.1																			0				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						c.(598-600)gaC>gaT		pre-mRNA processing factor 8							98	103	101					17																	1585167		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1585167G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.600C>T	17.37:g.1585167G>A						PRPF8_ENST00000304992.6_Silent_p.D200D	p.D200D			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	4	865	-			200					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.600C>T	CCDS11010.1																																																																																				0.542	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			25	52	0	0	0	1	0	25	52					A	1585167	G	A	1585167	2	1	435	1	0	0	0	0	0	0	0	1	12575	1136	40	1		1	PRPF8	17	1585167	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	234	1585167	79610043	7100	28025											
WDR81	124997	broad.mit.edu	37	chr17	1635978	1635978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatctgaagctggaccctGcgggccgtggtgagggccag	7	6	18	10	2	1	2	0	2	1	0	1	4	1	4	3	5	2	1	3	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1635978G>A	ENST00000409644.1	+	6	4342	c.4342G>A	c.(4342-4344)Gcg>Acg	p.A1448T	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Missense_Mutation_p.A87T|WDR81_ENST00000545662.1_Missense_Mutation_p.A79T|WDR81_ENST00000309182.5_Missense_Mutation_p.A397T|WDR81_ENST00000437219.2_Missense_Mutation_p.A245T|WDR81_ENST00000419248.1_Missense_Mutation_p.A221T	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1448					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCTGGACCCTGCGGGCCGTGG	0.692																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(4342-4344)Gcg>Acg		WD repeat domain 81							25	26	26					17																	1635978		2203	4294	6497	SO:0001583	missense	124997							g.chr17:1635978G>A	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4342G>A	17.37:g.1635978G>A	ENSP00000386609:p.Ala1448Thr					RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Missense_Mutation_p.A87T|WDR81_ENST00000545662.1_Missense_Mutation_p.A79T|WDR81_ENST00000419248.1_Missense_Mutation_p.A221T|WDR81_ENST00000437219.2_Missense_Mutation_p.A245T|WDR81_ENST00000309182.5_Missense_Mutation_p.A397T	p.A1448T	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	6	4342	+			221					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	c.4342G>A	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	G	0.315	-0.965158	0.02249	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000418841;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T;T	0.54479	2.41;2.4;0.57;2.42;0.92;0.67;0.57	5.12	-6.89	0.01660	.	1.902650	0.02005	N	0.046606	T	0.21347	0.0514	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.13575	-1.0504	10	0.11794	T	0.64	.	1.4847	0.02444	0.4613:0.1399:0.1963:0.2024	.	79;245;575;397	B7Z6V3;B7Z579;Q8TEL1;Q562E7	.;.;.;WDR81_HUMAN	T	245;397;87;221;33;1448;199;79	ENSP00000391074:A245T;ENSP00000312074:A397T;ENSP00000401560:A87T;ENSP00000407845:A221T;ENSP00000395198:A33T;ENSP00000386609:A1448T;ENSP00000442726:A79T	ENSP00000312074:A397T	A	+	1	0	WDR81	1582728	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.762000	0.04745	-0.990000	0.03481	-2.070000	0.00385	GCG		0.692	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		10	20	0	0	0	1	0	10	20					A	1635978	G	A	1635978	3	1	435	1	0	0	0	0	1	0	0	0	17327	1319	46	3	4426	3	WDR81	17	1635978	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	50811	1635978	79559232	7101	28026											
WDR81	124997	broad.mit.edu	37	chr17	1637344	1637344	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggcagcaaggatcgtacCgtgcgcctctggccgctgta	7	7	14	13	5	1	0	0	0	1	0	2	1	1	1	3	3	4	5	3	3	3	2	rs146436550		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1637344C>T	ENST00000409644.1	+	7	5013	c.5013C>T	c.(5011-5013)acC>acT	p.T1671T	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Silent_p.T310T|WDR81_ENST00000545662.1_Silent_p.T302T|WDR81_ENST00000309182.5_Silent_p.T620T|WDR81_ENST00000437219.2_Silent_p.T468T|WDR81_ENST00000419248.1_Silent_p.T444T	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1671					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGATCGTACCGTGCGCCTCT	0.667																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(5011-5013)acC>acT		WD repeat domain 81		T	,,,	0,4406		0,0,2203	54	51	52		1404,5013,1332,1860	-10.5	0.1	17	dbSNP_134	52	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WDR81	NM_001163673.1,NM_001163809.1,NM_001163811.1,NM_152348.3	,,,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,,,	468/739,1671/1942,444/715,620/891	1637344	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	124997							g.chr17:1637344C>T	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.5013C>T	17.37:g.1637344C>T						RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Silent_p.T310T|WDR81_ENST00000545662.1_Silent_p.T302T|WDR81_ENST00000419248.1_Silent_p.T444T|WDR81_ENST00000437219.2_Silent_p.T468T|WDR81_ENST00000309182.5_Silent_p.T620T	p.T1671T	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	7	5013	+			444					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	ENST00000409644.1	37	c.5013C>T	CCDS54062.1																																																																																				0.667	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		24	24	0	0	0	1	0	24	24					T	1637344	C	T	1637344	2	4	435	1	0	0	0	0	0	0	0	1	17327	639	23	2		2	WDR81	17	1637344	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1366	1637344	79557866	7102	28027											
SERPINF1	5176	broad.mit.edu	37	chr17	1680697	1680697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagggacacagacacaggggCccttctcttcattggcaaga	11	7	12	11	0	2	2	1	0	1	2	3	4	2	3	1	4	0	1	1	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1680697C>T	ENST00000254722.4	+	8	1377	c.1214C>T	c.(1213-1215)gCc>gTc	p.A405V		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	405					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			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						GACACAGGGGCCCTTCTCTTC	0.547																																						ENST00000254722.4																			0				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						c.(1213-1215)gCc>gTc		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1							94	99	97					17																	1680697		2203	4300	6503	SO:0001583	missense	5176				cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	g.chr17:1680697C>T	M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"Serine (or cysteine) peptidase inhibitors"	8824	protein-coding gene	gene with protein product	"pigment epithelium-derived factor", "proliferation-inducing protein 35"	172860	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.1214C>T	17.37:g.1680697C>T	ENSP00000254722:p.Ala405Val						p.A405V	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN			8	1377	+			405					F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Missense_Mutation	SNP	ENST00000254722.4	37	c.1214C>T	CCDS11012.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378902	0.82682	.	.	ENSG00000132386	ENST00000254722	D	0.84298	-1.83	6.06	6.06	0.98353	Serpin domain (3);	0.149536	0.64402	D	0.000013	D	0.89518	0.6738	L	0.41710	1.295	0.58432	D	0.999999	D	0.89917	1.0	D	0.64776	0.929	D	0.88918	0.3364	10	0.56958	D	0.05	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	405	P36955	PEDF_HUMAN	V	405	ENSP00000254722:A405V	ENSP00000254722:A405V	A	+	2	0	SERPINF1	1627447	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.987000	0.70571	2.882000	0.98803	0.655000	0.94253	GCC		0.547	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615		41	76	0	0	0	1	0	41	76					T	1680697	C	T	1680697	3	4	435	1	0	0	0	0	1	0	0	0	14114	739	26	3	1240	3	SERPINF1	17	1680697	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	43353	1680697	79514513	7103	28028											
SGSM2	9905	broad.mit.edu	37	chr17	2282453	2282453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctaccgagagatcatccGtgacaacaacatggacttca	13	7	9	12	2	2	2	2	1	0	1	3	5	3	3	3	2	3	0	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:2282453G>A	ENST00000426855.2	+	22	3063	c.2888G>A	c.(2887-2889)cGt>cAt	p.R963H	RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000574563.1_Missense_Mutation_p.R963H|SGSM2_ENST00000268989.3_Missense_Mutation_p.R1008H|RP1-59D14.5_ENST00000574290.1_RNA	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	963					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			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)		GAGATCATCCGTGACAACAAC	0.577																																						ENST00000268989.3																			0				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						c.(3022-3024)cGt>cAt		small G protein signaling modulator 2							233	177	196					17																	2282453		2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2282453G>A	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2888G>A	17.37:g.2282453G>A	ENSP00000415107:p.Arg963His					SGSM2_ENST00000574563.1_Missense_Mutation_p.R963H|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000426855.2_Missense_Mutation_p.R963H	p.R1008H	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	23	3200	+			963					A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.3023G>A	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760674	0.89932	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.22134	1.97;1.97	5.56	5.56	0.83823	Rab-GAP/TBC domain (2);	0.162720	0.56097	D	0.000025	T	0.34832	0.0911	N	0.22421	0.69	0.45239	D	0.998243	D;D;D;D	0.76494	0.994;0.999;0.999;0.999	P;D;D;D	0.74023	0.781;0.976;0.976;0.982	T	0.14643	-1.0465	10	0.87932	D	0	-0.0755	18.5138	0.90928	0.0:0.0:1.0:0.0	.	963;963;963;1008	O43147-5;B9A6J3;O43147;O43147-2	.;.;SGSM2_HUMAN;.	H	1008;963	ENSP00000268989:R1008H;ENSP00000415107:R963H	ENSP00000268989:R1008H	R	+	2	0	SGSM2	2229203	1.000000	0.71417	0.961000	0.40146	0.967000	0.64934	4.237000	0.58681	2.641000	0.89580	0.655000	0.94253	CGT		0.577	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		15	22	0	0	0	1	0	15	22					A	2282453	G	A	2282453	3	1	435	1	0	0	0	0	1	0	0	0	14223	1145	40	1	3113	1	SGSM2	17	2282453	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	601756	2282453	78912757	7104	28029											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2930332	2930332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccagcctgggggcagctgCcaccccgatcatcatgagcc	7	5	11	18	1	2	1	2	1	0	0	2	2	2	1	7	2	4	2	7	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:2930332C>T	ENST00000254695.8	+	22	2165	c.2075C>T	c.(2074-2076)gCc>gTc	p.A692V	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.A692V|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.A677V|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.A673V	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	692	Ser-rich.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						GGGGCAGCTGCCACCCCGATC	0.647																																						ENST00000254695.8																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(2074-2076)gCc>gTc		RAP1 GTPase activating protein 2							22	27	25					17																	2930332		2192	4280	6472	SO:0001583	missense	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2930332C>T	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.2075C>T	17.37:g.2930332C>T	ENSP00000254695:p.Ala692Val					RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.A677V|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.A692V|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.A673V	p.A692V	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN			22	2165	+			692			Ser-rich.		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	c.2075C>T	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138464	0.56936	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	4.82	4.82	0.62117	.	0.476927	0.23910	N	0.043360	T	0.80297	0.4597	N	0.08118	0	0.35386	D	0.790307	B;B	0.30439	0.279;0.183	B;B	0.31101	0.124;0.058	D	0.84478	0.0603	10	0.66056	D	0.02	-26.029	16.9144	0.86148	0.0:1.0:0.0:0.0	.	677;692	Q684P5-2;Q684P5	.;RPGP2_HUMAN	V	692;677;673;692	ENSP00000254695:A692V;ENSP00000389824:A677V;ENSP00000439688:A673V;ENSP00000444890:A692V	ENSP00000254695:A692V	A	+	2	0	RAP1GAP2	2877082	1.000000	0.71417	0.994000	0.49952	0.611000	0.37282	3.708000	0.54845	2.235000	0.73313	0.650000	0.86243	GCC		0.647	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			4	1	0	0	0	1	0	4	1					T	2930332	C	T	2930332	3	4	435	1	0	0	0	0	1	0	0	0	13038	739	26	3	2161	3	RAP1GAP2	17	2930332	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	647879	2930332	78264878	7105	28030											
OR1A2	26189	broad.mit.edu	37	chr17	3101147	3101147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccttggccaaggcagacaGctataccttggctgcaatgg	10	8	12	11	0	0	1	0	0	0	1	0	1	0	1	3	4	4	4	3	4	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3101147G>A	ENST00000381951.1	+	1	335	c.335G>A	c.(334-336)aGc>aAc	p.S112N		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	112					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						AAGGCAGACAGCTATACCTTG	0.493																																						ENST00000381951.1																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						c.(334-336)aGc>aAc		olfactory receptor, family 1, subfamily A, member 2							151	124	133					17																	3101147		2203	4300	6503	SO:0001583	missense	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101147G>A	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"GPCR / Class A : Olfactory receptors"	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.335G>A	17.37:g.3101147G>A	ENSP00000371377:p.Ser112Asn						p.S112N	NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN			1	335	+			112					Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	c.335G>A	CCDS11021.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.385688	0.01194	.	.	ENSG00000172150	ENST00000381951	T	0.00344	8.02	4.09	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.00178	0.0005	L	0.28054	0.825	0.09310	N	1	B	0.16802	0.019	B	0.19391	0.025	T	0.40156	-0.9578	10	0.02654	T	1	.	10.0286	0.42087	0.1008:0.0:0.8992:0.0	.	112	Q9Y585	OR1A2_HUMAN	N	112	ENSP00000371377:S112N	ENSP00000371377:S112N	S	+	2	0	OR1A2	3047897	0.000000	0.05858	0.196000	0.23383	0.098000	0.18820	0.140000	0.16056	2.278000	0.76064	0.603000	0.83216	AGC		0.493	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		13	50	0	0	0	1	0	13	50					A	3101147	G	A	3101147	3	1	435	1	0	0	0	0	1	0	0	0	10950	971	34	3	337	3	OR1A2	17	3101147	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	170815	3101147	78094063	7106	28031											
OR3A3	8392	broad.mit.edu	37	chr17	3324785	3324785	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatactgatgttcagggCgctctgtgtcagctacttgt	9	13	11	8	1	3	2	2	1	1	1	3	2	3	2	0	1	3	3	0	1	3	4	rs372610786		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3324785C>T	ENST00000291231.1	+	1	924	c.924C>T	c.(922-924)ggC>ggT	p.G308G		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	308					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						ATGTTCAGGGCGCTCTGTGTC	0.483																																						ENST00000291231.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(922-924)ggC>ggT		olfactory receptor, family 3, subfamily A, member 3		C		0,4406		0,0,2203	75	76	75		924	-4	0	17		75	1,8599		0,1,4299	no	coding-synonymous	OR3A3	NM_012373.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		308/322	3324785	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3324785C>T	U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"GPCR / Class A : Olfactory receptors"	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.924C>T	17.37:g.3324785C>T							p.G308G	NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN			1	924	+			308					Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Silent	SNP	ENST00000291231.1	37	c.924C>T	CCDS11025.1																																																																																				0.483	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			30	27	0	0	0	1	0	30	27					T	3324785	C	T	3324785	2	4	435	1	0	0	0	0	0	0	0	1	11039	755	27	1		1	OR3A3	17	3324785	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	223638	3324785	77870425	7107	28032											
TRPV3	162514	broad.mit.edu	37	chr17	3427532	3427532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acatgcccatggactggaaaCcccgcgtatagtagagcatg	12	7	11	11	2	0	1	0	0	0	1	0	3	0	3	3	2	3	3	3	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3427532C>T	ENST00000576742.1	-	13	2024	c.1703G>A	c.(1702-1704)gGt>gAt	p.G568D	TRPV3_ENST00000572519.1_Missense_Mutation_p.G568D|TRPV3_ENST00000301365.4_Missense_Mutation_p.G568D	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	568					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGACTGGAAACCCCGCGTATA	0.587																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(1702-1704)gGt>gAt		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						147	138	141					17																	3427532		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3427532C>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1703G>A	17.37:g.3427532C>T	ENSP00000461518:p.Gly568Asp					TRPV3_ENST00000572519.1_Missense_Mutation_p.G568D|TRPV3_ENST00000576742.1_Missense_Mutation_p.G568D	p.G568D			Q8NET8	TRPV3_HUMAN			13	1834	-			568					Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.1703G>A	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.632416	0.87660	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.90620	-2.7	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	D	0.95749	0.8617	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;1.0;1.0;1.0;1.0;0.999;0.999	D	0.96247	0.9180	10	0.87932	D	0	-13.4347	17.7887	0.88546	0.0:1.0:0.0:0.0	.	552;552;568;552;568;568;568	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	D	568;568;552	ENSP00000301365:G568D	ENSP00000301365:G568D	G	-	2	0	TRPV3	3374282	1.000000	0.71417	0.973000	0.42090	0.739000	0.42172	7.410000	0.80065	2.634000	0.89283	0.563000	0.77884	GGT		0.587	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		29	68	0	0	0	1	0	29	68					T	3427532	C	T	3427532	3	4	435	1	0	0	0	0	1	0	0	0	16594	507	18	3	693	3	TRPV3	17	3427532	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	102747	3427532	77767678	7108	28033											
TRPV3	162514	broad.mit.edu	37	chr17	3435992	3435992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccagctgcagcggcgtgaGgccatcgttgttgcgagtgg	5	8	18	10	4	0	1	0	1	0	0	1	2	0	1	2	4	4	4	2	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3435992G>T	ENST00000576742.1	-	8	1345	c.1024C>A	c.(1024-1026)Ctc>Atc	p.L342I	TRPV3_ENST00000572519.1_Missense_Mutation_p.L342I|TRPV3_ENST00000301365.4_Missense_Mutation_p.L342I	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	342					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AGCGGCGTGAGGCCATCGTTG	0.627																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(1024-1026)Ctc>Atc		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						112	84	94					17																	3435992		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3435992G>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1024C>A	17.37:g.3435992G>T	ENSP00000461518:p.Leu342Ile					TRPV3_ENST00000572519.1_Missense_Mutation_p.L342I|TRPV3_ENST00000576742.1_Missense_Mutation_p.L342I	p.L342I			Q8NET8	TRPV3_HUMAN			8	1155	-			342					Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.1024C>A	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386620	0.61956	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	T	0.64803	-0.12	5.31	5.31	0.75309	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000018	T	0.80914	0.4715	M	0.88031	2.925	0.42210	D	0.991801	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.997;0.995;0.996;0.998	D;D;D;D;P;D;D	0.87578	0.996;0.991;0.998;0.991;0.861;0.941;0.996	D	0.83927	0.0304	10	0.72032	D	0.01	-16.4272	11.7404	0.51790	0.0899:0.0:0.9101:0.0	.	326;326;342;326;342;342;342	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	I	342;342;326	ENSP00000301365:L342I	ENSP00000301365:L342I	L	-	1	0	TRPV3	3382742	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	1.690000	0.37711	2.654000	0.90174	0.561000	0.74099	CTC		0.627	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		10	18	1	0	1.58986e-06	1	1.65464e-06	10	18					T	3435992	G	T	3435992	3	4	435	1	0	0	0	0	1	0	0	0	16594	1000	35	5	1392	5	TRPV3	17	3435992	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8460	3435992	77759218	7109	28034											
GSG2	83903	broad.mit.edu	37	chr17	3628288	3628288	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaacctctctcctccattcCcaccgctttaaaaagggcca	11	9	5	16	1	1	0	0	0	1	0	5	1	4	0	6	1	1	1	6	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3628288C>T	ENST00000325418.4	+	1	1078	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	353					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										TCCTCCATTCCCACCGCTTTA	0.517																																						ENST00000325418.4																			0											c.(1057-1059)tcC>tcT		germ cell associated 2 (haspin)							66	66	66					17																	3628288		2203	4300	6503	SO:0001819	synonymous_variant	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3628288C>T	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1059C>T	17.37:g.3628288C>T						ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	p.S353S	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	1078	+			353					Q5U5K3|Q96MN1|Q9BXS7	Silent	SNP	ENST00000325418.4	37	c.1059C>T	CCDS11036.1																																																																																				0.517	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		14	28	0	0	0	1	0	14	28					T	3628288	C	T	3628288	2	4	435	1	0	0	0	0	0	0	0	1	6822	610	22	3		3	GSG2	17	3628288	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	192296	3628288	77566922	7110	28035											
GSG2	83903	broad.mit.edu	37	chr17	3628712	3628712	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagattggggaaggggtgTttggcgaagtgtttcaaaca	12	10	16	3	1	1	2	1	0	0	2	1	4	1	3	0	5	1	2	0	5	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3628712T>C	ENST00000325418.4	+	1	1502	c.1483T>C	c.(1483-1485)Ttt>Ctt	p.F495L	CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	495	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GGAAGGGGTGTTTGGCGAAGT	0.453																																						ENST00000325418.4																			0											c.(1483-1485)Ttt>Ctt		germ cell associated 2 (haspin)							61	58	59					17																	3628712		2203	4300	6503	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3628712T>C	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1483T>C	17.37:g.3628712T>C	ENSP00000325290:p.Phe495Leu					ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	p.F495L	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	1502	+			495			Protein kinase.		Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.1483T>C	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.573243	0.86542	.	.	ENSG00000177602	ENST00000325418	T	0.69175	-0.38	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42294	D	0.000721	T	0.81612	0.4859	M	0.89840	3.065	0.53688	D	0.999974	D	0.63880	0.993	P	0.58620	0.842	D	0.85761	0.1349	10	0.87932	D	0	-36.6898	12.8971	0.58106	0.0:0.0:0.0:1.0	.	495	Q8TF76	HASP_HUMAN	L	495	ENSP00000325290:F495L	ENSP00000325290:F495L	F	+	1	0	GSG2	3575461	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.806000	0.69150	2.139000	0.66308	0.533000	0.62120	TTT		0.453	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		33	46	0	0	0	1	0	33	46					C	3628712	T	C	3628712	3	2	435	1	0	0	0	0	1	0	0	0	6822	1725	60	4	1485	4	GSG2	17	3628712	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	424	3628712	77566498	7111	28036											
GSG2	83903	broad.mit.edu	37	chr17	3629159	3629159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtggcagaggcatcactgCgctttgagcaccgagactta	10	8	12	11	2	1	3	1	1	0	2	1	4	1	3	1	2	2	4	1	2	1	2	rs147510645		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3629159C>T	ENST00000325418.4	+	1	1949	c.1930C>T	c.(1930-1932)Cgc>Tgc	p.R644C	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	644	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GGCATCACTGCGCTTTGAGCA	0.512													C|||	1	0.000199681	0	0	5008	,	,		16712	0.001		0	False		,,,				2504	0					ENST00000325418.4																			0											c.(1930-1932)Cgc>Tgc		germ cell associated 2 (haspin)		C	,CYS/ARG	0,4406		0,0,2203	94	83	87		,1930	-0.2	1	17	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	ITGAE,GSG2	NM_002208.4,NM_031965.2	,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign	,644/799	3629159	1,13005	2203	4300	6503	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3629159C>T	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1930C>T	17.37:g.3629159C>T	ENSP00000325290:p.Arg644Cys					ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	p.R644C	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	1949	+			644			Protein kinase.		Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.1930C>T	CCDS11036.1	6	0.0027472527472527475	0	0.0	0	0.0	4	0.006993006993006993	2	0.002638522427440633	C	9.946	1.218848	0.22373	0.0	1.16E-4	ENSG00000177602	ENST00000325418	T	0.66638	-0.22	4.7	-0.165	0.13355	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.279726	0.28828	N	0.014018	T	0.45637	0.1352	L	0.43757	1.38	0.32992	D	0.525047	B	0.24651	0.108	B	0.24541	0.054	T	0.56866	-0.7908	10	0.87932	D	0	-37.909	8.7574	0.34654	0.4262:0.4355:0.1383:0.0	.	644	Q8TF76	HASP_HUMAN	C	644	ENSP00000325290:R644C	ENSP00000325290:R644C	R	+	1	0	GSG2	3575908	0.092000	0.21681	0.987000	0.45799	0.563000	0.35712	0.223000	0.17719	0.241000	0.21283	-0.181000	0.13052	CGC		0.512	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		28	36	0	0	0	1	0	28	36					T	3629159	C	T	3629159	3	4	435	1	0	0	0	0	1	0	0	0	6822	768	27	1	1932	1	GSG2	17	3629159	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	447	3629159	77566051	7112	28037											
ITGAE	3682	broad.mit.edu	37	chr17	3661129	3661129	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcctttctcctggagccGtggcttgaggtgaagatgct	6	12	14	9	1	1	3	0	2	1	1	2	5	1	4	3	3	3	2	3	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3661129G>A	ENST00000263087.4	-	9	989	c.891C>T	c.(889-891)caC>caT	p.H297H		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	297	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TCCTGGAGCCGTGGCTTGAGG	0.517																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(889-891)caC>caT		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							182	170	174					17																	3661129		2203	4300	6503	SO:0001819	synonymous_variant	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3661129G>A	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.891C>T	17.37:g.3661129G>A							p.H297H	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	9	989	-			297			VWFA.		Q17RS6|Q9NZU9	Silent	SNP	ENST00000263087.4	37	c.891C>T	CCDS32531.1																																																																																				0.517	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		43	61	0	0	0	1	0	43	61					A	3661129	G	A	3661129	2	1	435	1	0	0	0	0	0	0	0	1	7885	1136	40	1		1	ITGAE	17	3661129	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31970	3661129	77534081	7113	28038											
CAMKK1	84254	broad.mit.edu	37	chr17	3783724	3783724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacagggcacttccatgaCgggcctatggagaaggatgc	10	7	14	10	1	1	2	1	1	0	1	2	4	2	3	2	4	1	1	2	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3783724C>T	ENST00000348335.2	-	9	860	c.712G>A	c.(712-714)Gtc>Atc	p.V238I	CAMKK1_ENST00000381771.2_Missense_Mutation_p.V276I|CAMKK1_ENST00000158166.5_Missense_Mutation_p.V276I|CAMKK1_ENST00000381769.2_Missense_Mutation_p.V265I	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	238	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACTTCCATGACGGGCCTATGG	0.632																																						ENST00000381771.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(826-828)Gtc>Atc		calcium/calmodulin-dependent protein kinase kinase 1, alpha							54	41	45					17																	3783724		2203	4300	6503	SO:0001583	missense	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3783724C>T	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.712G>A	17.37:g.3783724C>T	ENSP00000323118:p.Val238Ile					CAMKK1_ENST00000381769.2_Missense_Mutation_p.V265I|CAMKK1_ENST00000348335.2_Missense_Mutation_p.V238I|CAMKK1_ENST00000158166.5_Missense_Mutation_p.V276I	p.V276I			Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	10	973	-			238			Protein kinase.		Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	37	c.826G>A	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596038	0.66332	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.73575	0.8;0.8;-0.76;-0.75	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	L	0.37466	1.105	0.80722	D	1	P;B	0.37015	0.578;0.402	B;B	0.39935	0.303;0.314	T	0.64740	-0.6336	10	0.22109	T	0.4	-19.0434	16.796	0.85602	0.0:1.0:0.0:0.0	.	276;238	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	I	265;238;276;276	ENSP00000371188:V265I;ENSP00000323118:V238I;ENSP00000371190:V276I;ENSP00000158166:V276I	ENSP00000158166:V276I	V	-	1	0	CAMKK1	3730473	1.000000	0.71417	0.963000	0.40424	0.960000	0.62799	5.400000	0.66320	2.569000	0.86673	0.591000	0.81541	GTC		0.632	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		4	5	0	0	0	1	0	4	5					T	3783724	C	T	3783724	3	4	435	1	0	0	0	0	1	0	0	0	2606	536	19	1	841	1	CAMKK1	17	3783724	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	122595	3783724	77411486	7114	28039											
P2RX1	5023	broad.mit.edu	37	chr17	3819513	3819513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctcctggaaccgccGtgccatggtgggccggctgg	4	7	15	15	3	0	0	0	0	0	0	2	1	2	1	6	5	3	2	6	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3819513G>A	ENST00000225538.3	-	1	281	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	3					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			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)		TGGAACCGCCGTGCCATGGTG	0.637																																						ENST00000225538.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13						c.(7-9)Cgg>Tgg		purinergic receptor P2X, ligand-gated ion channel, 1							51	58	56					17																	3819513		2202	4299	6501	SO:0001583	missense	5023				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3819513G>A	X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.7C>T	17.37:g.3819513G>A	ENSP00000225538:p.Arg3Trp						p.R3W	NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN		LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)	1	281	-			3					Q9UK84	Missense_Mutation	SNP	ENST00000225538.3	37	c.7C>T	CCDS11040.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733348	0.48939	.	.	ENSG00000108405	ENST00000225538	T	0.05258	3.47	4.7	2.49	0.30216	.	1.012260	0.07903	N	0.972964	T	0.05686	0.0149	L	0.32530	0.975	0.27194	N	0.960335	D	0.56968	0.978	B	0.36766	0.232	T	0.39941	-0.9589	10	0.72032	D	0.01	-8.2458	10.4863	0.44724	0.0:0.1434:0.7087:0.1479	.	3	P51575	P2RX1_HUMAN	W	3	ENSP00000225538:R3W	ENSP00000225538:R3W	R	-	1	2	P2RX1	3766262	0.121000	0.22262	0.548000	0.28192	0.694000	0.40290	2.225000	0.42954	1.061000	0.40601	0.491000	0.48974	CGG		0.637	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	NM_002558		4	82	0	0	0	1	0	4	82					A	3819513	G	A	3819513	3	1	435	1	0	0	0	0	1	0	0	0	11339	1144	40	1	1240	1	P2RX1	17	3819513	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	35789	3819513	77375697	7115	28040											
ATP2A3	489	broad.mit.edu	37	chr17	3850872	3850872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggggatggccgccaccGccagggccacggcgatcttg	5	5	15	16	5	1	0	0	0	1	0	2	2	1	1	6	5	0	0	6	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3850872G>A	ENST00000352011.3	-	8	962	c.908C>T	c.(907-909)gCg>gTg	p.A303V	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Missense_Mutation_p.A303V|ATP2A3_ENST00000309890.7_Missense_Mutation_p.A303V|ATP2A3_ENST00000397041.3_Missense_Mutation_p.A303V|ATP2A3_ENST00000397043.3_Missense_Mutation_p.A303V|ATP2A3_ENST00000397035.3_Missense_Mutation_p.A303V			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	303					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGCCGCCACCGCCAGGGCCAC	0.682																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(907-909)gCg>gTg		ATPase, Ca++ transporting, ubiquitous							35	35	35					17																	3850872		2203	4297	6500	SO:0001583	missense	489				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	g.chr17:3850872G>A		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.908C>T	17.37:g.3850872G>A	ENSP00000301387:p.Ala303Val					ATP2A3_ENST00000397043.3_Missense_Mutation_p.A303V|ATP2A3_ENST00000352011.3_Missense_Mutation_p.A303V|ATP2A3_ENST00000359983.3_Missense_Mutation_p.A303V|ATP2A3_ENST00000397041.3_Missense_Mutation_p.A303V|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Missense_Mutation_p.A303V	p.A303V	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	8	1058	-			303					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.908C>T	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555675	0.86231	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	3.76	3.76	0.43208	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.95661	0.8589	M	0.89030	3	0.80722	D	1	D;D;D;D;D;D	0.89917	0.988;1.0;1.0;1.0;1.0;1.0	B;D;D;D;D;D	0.72982	0.326;0.965;0.979;0.965;0.965;0.965	D	0.96489	0.9362	10	0.87932	D	0	.	15.8289	0.78736	0.0:0.0:1.0:0.0	.	303;303;303;303;303;303	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	V	303	ENSP00000380236:A303V;ENSP00000301387:A303V;ENSP00000353072:A303V;ENSP00000380234:A303V;ENSP00000312577:A303V;ENSP00000380229:A303V	ENSP00000312577:A303V	A	-	2	0	ATP2A3	3797621	1.000000	0.71417	0.997000	0.53966	0.649000	0.38597	9.595000	0.98260	2.363000	0.80096	0.467000	0.42956	GCG		0.682	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		18	19	0	0	0	1	0	18	19					A	3850872	G	A	3850872	3	1	435	1	0	0	0	0	1	0	0	0	1138	1087	38	1	2358	1	ATP2A3	17	3850872	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31359	3850872	77344338	7116	28041											
ZZEF1	23140	broad.mit.edu	37	chr17	3919745	3919745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctctcggcagccctggaGcactttctgcaggatctggt	5	11	12	13	1	3	0	0	0	3	0	5	2	4	2	2	4	3	3	2	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3919745G>T	ENST00000381638.2	-	49	8141	c.8017C>A	c.(8017-8019)Ctc>Atc	p.L2673I		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2673							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			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						CAGCCCTGGAGCACTTTCTGC	0.572																																						ENST00000381638.2																			0				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						c.(8017-8019)Ctc>Atc		zinc finger, ZZ-type with EF-hand domain 1							79	63	68					17																	3919745		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3919745G>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8017C>A	17.37:g.3919745G>T	ENSP00000371051:p.Leu2673Ile						p.L2673I	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			49	8141	-			2673					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.8017C>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119283	0.94385	.	.	ENSG00000074755	ENST00000381638	T	0.28666	1.6	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	L	0.29908	0.895	0.80722	D	1	P	0.39391	0.671	B	0.39660	0.306	T	0.02758	-1.1114	10	0.46703	T	0.11	-13.3348	19.7025	0.96060	0.0:0.0:1.0:0.0	.	2673	O43149	ZZEF1_HUMAN	I	2673	ENSP00000371051:L2673I	ENSP00000371051:L2673I	L	-	1	0	ZZEF1	3866494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.348000	0.73009	2.674000	0.91012	0.650000	0.86243	CTC		0.572	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		17	17	1	0	1.67942e-08	1	1.77343e-08	17	17					T	3919745	G	T	3919745	3	4	435	1	0	0	0	0	1	0	0	0	18252	971	34	5	896	5	ZZEF1	17	3919745	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	68873	3919745	77275465	7117	28042											
ZZEF1	23140	broad.mit.edu	37	chr17	4007994	4007994	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggatgaggcatcatactgCgtgtccagatggtcagtgat	10	10	14	7	1	2	3	2	2	0	1	3	4	3	4	1	3	2	1	1	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4007994C>T	ENST00000381638.2	-	8	1630	c.1506G>A	c.(1504-1506)acG>acA	p.T502T	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	502							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			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						CATCATACTGCGTGTCCAGAT	0.478																																						ENST00000381638.2																			0				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						c.(1504-1506)acG>acA		zinc finger, ZZ-type with EF-hand domain 1							147	128	135					17																	4007994		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:4007994C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1506G>A	17.37:g.4007994C>T						ZZEF1_ENST00000574474.1_5'UTR	p.T502T	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			8	1630	-			502					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.1506G>A	CCDS11043.1																																																																																				0.478	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		18	20	0	0	0	1	0	18	20					T	4007994	C	T	4007994	2	4	435	1	0	0	0	0	0	0	0	1	18252	755	27	1		1	ZZEF1	17	4007994	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	88249	4007994	77187216	7118	28043											
ZZEF1	23140	broad.mit.edu	37	chr17	4008056	4008056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggcaacacttcctcttgCgagagcaaaagccagaagag	13	8	10	10	1	1	3	0	0	1	3	2	4	2	3	2	1	4	2	2	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4008056C>T	ENST00000381638.2	-	8	1568	c.1444G>A	c.(1444-1446)Gca>Aca	p.A482T	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	482							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			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						CTTCCTCTTGCGAGAGCAAAA	0.453																																						ENST00000381638.2																			0				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						c.(1444-1446)Gca>Aca		zinc finger, ZZ-type with EF-hand domain 1							102	90	94					17																	4008056		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:4008056C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1444G>A	17.37:g.4008056C>T	ENSP00000371051:p.Ala482Thr					ZZEF1_ENST00000574474.1_5'UTR	p.A482T	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			8	1568	-			482					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.1444G>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694474	0.88830	.	.	ENSG00000074755	ENST00000381638	T	0.47177	0.85	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.63278	-0.6673	10	0.87932	D	0	-12.2909	20.0965	0.97849	0.0:1.0:0.0:0.0	.	482;482	O43149-3;O43149	.;ZZEF1_HUMAN	T	482	ENSP00000371051:A482T	ENSP00000371051:A482T	A	-	1	0	ZZEF1	3954805	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	7.379000	0.79691	2.824000	0.97209	0.655000	0.94253	GCA		0.453	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		21	24	0	0	0	1	0	21	24					T	4008056	C	T	4008056	3	4	435	1	0	0	0	0	1	0	0	0	18252	768	27	1	7633	1	ZZEF1	17	4008056	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	62	4008056	77187154	7119	28044											
ZZEF1	23140	broad.mit.edu	37	chr17	4020385	4020385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgctggagagccgattgCggtgcaggaagcgcagtatc	8	6	16	11	5	0	1	0	0	0	1	1	4	0	2	2	3	4	4	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4020385C>T	ENST00000381638.2	-	3	699	c.575G>A	c.(574-576)cGc>cAc	p.R192H	ZZEF1_ENST00000574474.1_5'UTR|snoU13_ENST00000459263.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	192							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			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						GAGCCGATTGCGGTGCAGGAA	0.507																																						ENST00000381638.2																			0				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						c.(574-576)cGc>cAc		zinc finger, ZZ-type with EF-hand domain 1							154	138	144					17																	4020385		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:4020385C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.575G>A	17.37:g.4020385C>T	ENSP00000371051:p.Arg192His					ZZEF1_ENST00000574474.1_5'UTR	p.R192H	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			3	699	-			192					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.575G>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980197	0.74474	.	.	ENSG00000074755	ENST00000381638	T	0.34072	1.38	5.87	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.57475	0.2056	M	0.62723	1.935	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.59161	-0.7506	10	0.87932	D	0	-14.7896	15.4127	0.74941	0.0:0.9324:0.0:0.0676	.	192;192	O43149-3;O43149	.;ZZEF1_HUMAN	H	192	ENSP00000371051:R192H	ENSP00000371051:R192H	R	-	2	0	ZZEF1	3967134	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	5.775000	0.68915	2.785000	0.95823	0.591000	0.81541	CGC		0.507	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		17	66	0	0	0	1	0	17	66					T	4020385	C	T	4020385	3	4	435	1	0	0	0	0	1	0	0	0	18252	768	27	1	8522	1	ZZEF1	17	4020385	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12329	4020385	77174825	7120	28045											
ZZEF1	23140	broad.mit.edu	37	chr17	4020446	4020446	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccctccttcgactctgaaaAtatgtctgtgaaacctaaac	12	11	6	12	1	2	2	0	2	2	0	4	3	3	2	3	0	2	0	3	0	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4020446A>T	ENST00000381638.2	-	3	638	c.514T>A	c.(514-516)Ttt>Att	p.F172I	ZZEF1_ENST00000574474.1_5'UTR|snoU13_ENST00000459263.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	172							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			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						GACTCTGAAAATATGTCTGTG	0.502																																						ENST00000381638.2																			0				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						c.(514-516)Ttt>Att		zinc finger, ZZ-type with EF-hand domain 1							95	90	92					17																	4020446		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:4020446A>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.514T>A	17.37:g.4020446A>T	ENSP00000371051:p.Phe172Ile					ZZEF1_ENST00000574474.1_5'UTR	p.F172I	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			3	638	-			172					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.514T>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.912287	0.92178	.	.	ENSG00000074755	ENST00000381638	T	0.34275	1.37	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.59004	0.2162	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	T	0.61652	-0.7019	10	0.87932	D	0	-15.0738	16.2774	0.82651	1.0:0.0:0.0:0.0	.	172;172	O43149-3;O43149	.;ZZEF1_HUMAN	I	172	ENSP00000371051:F172I	ENSP00000371051:F172I	F	-	1	0	ZZEF1	3967195	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	8.962000	0.93254	2.247000	0.74100	0.482000	0.46254	TTT		0.502	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		17	27	0	0	0	1	0	17	27					T	4020446	A	T	4020446	3	4	435	1	0	0	0	0	1	0	0	0	18252	101	4	5	8583	5	ZZEF1	17	4020446	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	61	4020446	77174764	7121	28046											
ANKFY1	51479	broad.mit.edu	37	chr17	4085622	4085622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttctgatggccagctggaGggctgtctccccgtcctgag	4	11	14	12	1	2	2	0	2	2	0	4	3	3	3	4	3	1	3	4	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4085622G>T	ENST00000341657.4	-	15	2010	c.1975C>A	c.(1975-1977)Ctc>Atc	p.L659I	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000573722.1_5'Flank|ANKFY1_ENST00000570535.1_Missense_Mutation_p.L701I|ANKFY1_ENST00000574367.1_Missense_Mutation_p.L660I	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	659	Interaction with RHOD and RAB5A. {ECO:0000269|PubMed:24102721}.				endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			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						GCCAGCTGGAGGGCTGTCTCC	0.567																																						ENST00000341657.4																			0				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						c.(1975-1977)Ctc>Atc		ankyrin repeat and FYVE domain containing 1							109	110	110					17																	4085622		2017	4169	6186	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4085622G>T	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1975C>A	17.37:g.4085622G>T	ENSP00000343362:p.Leu659Ile					ANKFY1_ENST00000574367.1_Missense_Mutation_p.L660I|ANKFY1_ENST00000570535.1_Missense_Mutation_p.L701I|CYB5D2_ENST00000573984.1_Intron	p.L659I	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN			15	2010	-			659					A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.1975C>A		.	.	.	.	.	.	.	.	.	.	G	14.23	2.474865	0.43942	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.42	4.46	0.54185	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000003	T	0.81014	0.4735	M	0.90425	3.115	0.80722	D	1	D;B;B;B	0.71674	0.998;0.085;0.069;0.117	D;B;B;B	0.77557	0.99;0.072;0.043;0.043	D	0.83944	0.0313	9	0.87932	D	0	-10.8154	11.0175	0.47698	0.1546:0.0:0.8454:0.0	.	601;659;660;701	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	I	660;601	.	ENSP00000343362:L660I	L	-	1	0	ANKFY1	4032371	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	3.268000	0.51585	1.284000	0.44531	0.650000	0.86243	CTC		0.567	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		36	64	1	0	1.08052e-11	1	1.16368e-11	36	64					T	4085622	G	T	4085622	3	4	435	1	0	0	0	0	1	0	0	0	626	1000	35	5	1578	5	ANKFY1	17	4085622	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	65176	4085622	77109588	7122	28047											
ANKFY1	51479	broad.mit.edu	37	chr17	4145692	4145692	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttcttctgcagcttgAcatactcctgccgcagaagc	8	10	8	15	1	2	2	0	1	2	1	3	2	3	2	3	0	6	4	3	0	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4145692A>G	ENST00000341657.4	-	2	97	c.62T>C	c.(61-63)gTc>gCc	p.V21A	ANKFY1_ENST00000570535.1_Missense_Mutation_p.V63A|ANKFY1_ENST00000433651.1_Missense_Mutation_p.V21A|ANKFY1_ENST00000574367.1_Missense_Mutation_p.V21A	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	21					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			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						CTGCAGCTTGACATACTCCTG	0.562																																						ENST00000341657.4																			0				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						c.(61-63)gTc>gCc		ankyrin repeat and FYVE domain containing 1							95	97	96					17																	4145692		2022	4188	6210	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4145692A>G	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.62T>C	17.37:g.4145692A>G	ENSP00000343362:p.Val21Ala					ANKFY1_ENST00000574367.1_Missense_Mutation_p.V21A|ANKFY1_ENST00000570535.1_Missense_Mutation_p.V63A|ANKFY1_ENST00000433651.1_Missense_Mutation_p.V21A	p.V21A	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN			2	97	-			21					A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.62T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	24.3|24.3	4.513673|4.513673	0.85389|0.85389	.|.	.|.	ENSG00000185722|ENSG00000185722	ENST00000535427|ENST00000341657;ENST00000433651	.|T;T	.|0.50813	.|0.94;0.73	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64394|0.64394	0.2594|0.2594	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D|D;D;D;D;D	0.54207|0.89917	0.965|0.996;1.0;0.999;0.999;0.999	P|D;D;D;D;D	0.48089|0.74348	0.566|0.923;0.983;0.939;0.972;0.972	T|T	0.65742|0.65742	-0.6094|-0.6094	8|10	0.87932|0.52906	D|T	0|0.07	-24.8657|-24.8657	14.7292|14.7292	0.69368|0.69368	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2|21;21;21;21;63	F5H754|B4DZ21;Q9P2R3-3;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.|.;.;ANFY1_HUMAN;.;.	P|A	2|21	.|ENSP00000343362:V21A;ENSP00000416005:V21A	ENSP00000442785:S2P|ENSP00000343362:V21A	S|V	-|-	1|2	0|0	ANKFY1|ANKFY1	4092441|4092441	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.261000|7.261000	0.78400|0.78400	2.082000|2.082000	0.62665|0.62665	0.451000|0.451000	0.29950|0.29950	TCA|GTC		0.562	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		46	60	0	0	0	1	0	46	60					G	4145692	A	G	4145692	3	3	435	1	0	0	0	0	1	0	0	0	626	275	10	4	3638	4	ANKFY1	17	4145692	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	60070	4145692	77049518	7123	28048											
MYBBP1A	10514	broad.mit.edu	37	chr17	4451274	4451274	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaggaggtggatgcccacGaggagcagaaggtgctggaa	11	6	18	6	1	0	2	0	1	0	1	0	7	0	6	1	6	3	2	1	6	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4451274G>A	ENST00000254718.4	-	13	2109	c.1803C>T	c.(1801-1803)ctC>ctT	p.L601L	MYBBP1A_ENST00000381556.2_Silent_p.L601L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	601				L -> F (in Ref. 1; AAF33021). {ECO:0000305}.	cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGATGCCCACGAGGAGCAGAA	0.647																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(1801-1803)ctC>ctT		MYB binding protein (P160) 1a							17	18	18					17																	4451274		2154	4217	6371	SO:0001819	synonymous_variant	10514				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	g.chr17:4451274G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1803C>T	17.37:g.4451274G>A						MYBBP1A_ENST00000381556.2_Silent_p.L601L	p.L601L			Q9BQG0	MBB1A_HUMAN			13	2109	-			601	L -> F (in Ref. 1; AAF33021).				Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	c.1803C>T	CCDS11046.1																																																																																				0.647	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		3	4	0	0	0	1	0	3	4					A	4451274	G	A	4451274	2	1	435	1	0	0	0	0	0	0	0	1	10008	1045	37	2		2	MYBBP1A	17	4451274	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	305582	4451274	76743936	7124	28049											
MYBBP1A	10514	broad.mit.edu	37	chr17	4451488	4451488	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggtgtcacggtggtcacGttgtggctgtgattcaacag	8	11	15	7	2	3	1	3	1	0	0	3	1	3	1	0	4	1	2	0	4	2	2	rs141617248		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4451488G>A	ENST00000254718.4	-	12	1980	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	MYBBP1A_ENST00000381556.2_Silent_p.N558N			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	558	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CGGTGGTCACGTTGTGGCTGT	0.652																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(1672-1674)aaC>aaT		MYB binding protein (P160) 1a		G	,	1,4405	2.1+/-5.4	0,1,2202	68	62	64		1674,1674	-2.6	0.4	17	dbSNP_134	64	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MYBBP1A	NM_001105538.1,NM_014520.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	558/1333,558/1329	4451488	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10514				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	g.chr17:4451488G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1674C>T	17.37:g.4451488G>A						MYBBP1A_ENST00000381556.2_Silent_p.N558N	p.N558N			Q9BQG0	MBB1A_HUMAN			12	1980	-			558			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	c.1674C>T	CCDS11046.1																																																																																				0.652	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		20	24	0	0	0	1	0	20	24					A	4451488	G	A	4451488	2	1	435	1	0	0	0	0	0	0	0	1	10008	1136	40	1		1	MYBBP1A	17	4451488	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	214	4451488	76743722	7125	28050											
MYBBP1A	10514	broad.mit.edu	37	chr17	4455264	4455264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttggtcagcaggggcagggCcgcgcccagcaggcggaaac	8	3	17	13	3	1	0	1	0	0	0	1	1	1	1	2	6	3	3	2	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4455264C>T	ENST00000254718.4	-	8	1240	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A312T			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	312	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGGGGCAGGGCCGCGCCCAGC	0.637																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(934-936)Gcc>Acc		MYB binding protein (P160) 1a							79	78	78					17																	4455264		2203	4300	6503	SO:0001583	missense	10514				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	g.chr17:4455264C>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.934G>A	17.37:g.4455264C>T	ENSP00000254718:p.Ala312Thr					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A312T	p.A312T			Q9BQG0	MBB1A_HUMAN			8	1240	-			312			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.934G>A	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	c	11.79	1.744849	0.30865	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.42131	0.98;0.98	5.12	3.06	0.35304	Armadillo-type fold (1);	0.446395	0.25535	N	0.030011	T	0.49184	0.1542	L	0.59436	1.845	0.20196	N	0.999924	P;P	0.48230	0.907;0.887	P;P	0.54460	0.753;0.638	T	0.35871	-0.9771	10	0.25106	T	0.35	-17.9606	11.2553	0.49050	0.3446:0.6554:0.0:0.0	.	312;312	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	T	312	ENSP00000370968:A312T;ENSP00000254718:A312T	ENSP00000254718:A312T	A	-	1	0	MYBBP1A	4402013	0.220000	0.23631	0.536000	0.28039	0.230000	0.25150	0.744000	0.26245	0.679000	0.31345	0.457000	0.33378	GCC		0.637	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		28	37	0	0	0	1	0	28	37					T	4455264	C	T	4455264	3	4	435	1	0	0	0	0	1	0	0	0	10008	739	26	3	3168	3	MYBBP1A	17	4455264	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3776	4455264	76739946	7126	28051											
GGT6	124975	broad.mit.edu	37	chr17	4461665	4461665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcttggggacaggtgtGcagagccaaaggagcagttg	10	7	17	7	0	0	1	0	0	0	1	0	3	0	3	1	4	4	4	1	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4461665G>A	ENST00000574154.1	-	4	1423	c.1127C>T	c.(1126-1128)gCa>gTa	p.A376V	GGT6_ENST00000381550.3_Missense_Mutation_p.A382V|GGT6_ENST00000573591.1_Missense_Mutation_p.A228V|MYBBP1A_ENST00000381556.2_5'Flank|MYBBP1A_ENST00000254718.4_5'Flank|GGT6_ENST00000301395.3_Missense_Mutation_p.A344V			Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	376					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GGACAGGTGTGCAGAGCCAAA	0.642																																						ENST00000301395.3																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1030-1032)gCa>gTa		gamma-glutamyltransferase 6							47	50	49					17																	4461665		2203	4300	6503	SO:0001583	missense	124975				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr17:4461665G>A	AK074646	CCDS11047.1, CCDS45582.1, CCDS73942.1	17p13.2	2014-08-12	2008-03-10		ENSG00000167741	ENSG00000167741		"Gamma-glutamyltransferases"	26891	protein-coding gene	gene with protein product		612341	"gamma-glutamyltransferase 6 homolog (rat)"			18357469	Standard	NM_001122890		Approved	FLJ90165	uc002fyd.4	Q6P531	OTTHUMG00000177827	ENST00000574154.1:c.1127C>T	17.37:g.4461665G>A	ENSP00000458307:p.Ala376Val					GGT6_ENST00000574154.1_Missense_Mutation_p.A376V|GGT6_ENST00000573591.1_Missense_Mutation_p.A228V|GGT6_ENST00000381550.3_Missense_Mutation_p.A382V	p.A344V	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN			3	1090	-			376					B4DUH4|Q8NCM0	Missense_Mutation	SNP	ENST00000574154.1	37	c.1031C>T	CCDS45582.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763802	0.49574	.	.	ENSG00000167741	ENST00000381550;ENST00000301395;ENST00000414312	T	0.06687	3.27	4.86	2.85	0.33270	.	0.279630	0.30235	N	0.010084	T	0.05273	0.0140	N	0.08118	0	0.09310	N	1	P;B;P	0.39157	0.662;0.432;0.531	B;B;B	0.42738	0.396;0.307;0.275	T	0.27020	-1.0086	10	0.56958	D	0.05	-26.5032	6.8595	0.24060	0.0:0.7133:0.1878:0.099	.	382;376;344	B4DKN3;Q6P531;Q6P531-2	.;GGT6_HUMAN;.	V	376;344;228	ENSP00000301395:A344V	ENSP00000301395:A344V	A	-	2	0	GGT6	4408414	0.001000	0.12720	0.179000	0.23059	0.726000	0.41606	1.052000	0.30429	0.580000	0.29522	-0.171000	0.13296	GCA		0.642	GGT6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439122.1	NM_153338		15	26	0	0	0	1	0	15	26					A	4461665	G	A	4461665	3	1	435	1	0	0	0	0	1	0	0	0	6363	1319	46	3	358	3	GGT6	17	4461665	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6401	4461665	76733545	7127	28052											
ALOX15	246	broad.mit.edu	37	chr17	4535496	4535496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcccaggtgcacagaggCgtgttggccggtgcaggtga	6	7	18	10	2	0	2	0	1	0	1	0	2	0	2	2	6	2	3	2	6	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4535496C>T	ENST00000570836.1	-	13	1717	c.1621G>A	c.(1621-1623)Gcc>Acc	p.A541T	ALOX15_ENST00000293761.3_Missense_Mutation_p.A541T|ALOX15_ENST00000574640.1_Missense_Mutation_p.A502T|ALOX15_ENST00000545513.1_Missense_Mutation_p.A563T			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	541	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		TGCACAGAGGCGTGTTGGCCG	0.592																																						ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(1621-1623)Gcc>Acc		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						70	69	70					17																	4535496		2203	4300	6503	SO:0001583	missense	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4535496C>T	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"Arachidonate lipoxygenases"	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1621G>A	17.37:g.4535496C>T	ENSP00000458832:p.Ala541Thr					ALOX15_ENST00000293761.3_Missense_Mutation_p.A541T|ALOX15_ENST00000574640.1_Missense_Mutation_p.A502T|ALOX15_ENST00000545513.1_Missense_Mutation_p.A563T	p.A541T			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	13	1717	-			541			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	c.1621G>A	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779393	0.31502	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.11821	2.74;2.74	4.08	1.78	0.24846	Lipoxygenase, C-terminal (3);	0.225560	0.37178	N	0.002216	T	0.21347	0.0514	M	0.91612	3.225	0.22811	N	0.998705	B;B;B	0.32365	0.367;0.222;0.222	B;B;B	0.29942	0.066;0.109;0.109	T	0.17077	-1.0381	10	0.72032	D	0.01	-18.673	8.1772	0.31289	0.5884:0.4116:0.0:0.0	.	563;502;541	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	T	541;563	ENSP00000293761:A541T;ENSP00000439855:A563T	ENSP00000293761:A541T	A	-	1	0	ALOX15	4482245	0.253000	0.23982	0.828000	0.32881	0.529000	0.34654	0.206000	0.17375	0.144000	0.18951	-0.335000	0.08231	GCC		0.592	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			12	19	0	0	0	1	0	12	19					T	4535496	C	T	4535496	3	4	435	1	0	0	0	0	1	0	0	0	538	768	27	1	379	1	ALOX15	17	4535496	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	73831	4535496	76659714	7128	28053											
ZMYND15	84225	broad.mit.edu	37	chr17	4645350	4645350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacaggcacagctttgaagCgaagctgacaccttggtgag	11	8	12	10	1	1	3	1	3	0	0	1	4	1	3	1	2	3	3	1	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4645350C>T	ENST00000433935.1	+	4	1025	c.968C>T	c.(967-969)gCg>gTg	p.A323V	ZMYND15_ENST00000573751.2_Missense_Mutation_p.A323V|CXCL16_ENST00000293778.6_5'Flank|ZMYND15_ENST00000269289.6_Missense_Mutation_p.A323V|ZMYND15_ENST00000592813.1_Missense_Mutation_p.A323V|CXCL16_ENST00000574412.1_5'Flank	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	323					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						AGCTTTGAAGCGAAGCTGACA	0.597																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(967-969)gCg>gTg		zinc finger, MYND-type containing 15							60	63	62					17																	4645350		2203	4300	6503	SO:0001583	missense	84225						zinc ion binding	g.chr17:4645350C>T	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"Zinc fingers, MYND-type"	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.968C>T	17.37:g.4645350C>T	ENSP00000391742:p.Ala323Val					ZMYND15_ENST00000269289.6_Missense_Mutation_p.A323V|ZMYND15_ENST00000592813.1_Missense_Mutation_p.A323V|ZMYND15_ENST00000573751.2_Missense_Mutation_p.A323V	p.A323V	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN			4	1025	+			323					B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	c.968C>T	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	C	0.487	-0.877031	0.02550	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.42900	0.96;0.98	5.15	4.08	0.47627	Zinc finger, MYND-type (2);	0.209202	0.32190	N	0.006449	T	0.16557	0.0398	N	0.04959	-0.14	0.22017	N	0.99941	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.0	T	0.31613	-0.9937	10	0.02654	T	1	-12.7828	6.776	0.23621	0.0:0.1792:0.0:0.8208	.	323;323	B4DXY5;Q9H091	.;ZMY15_HUMAN	V	323	ENSP00000391742:A323V;ENSP00000269289:A323V	ENSP00000269289:A323V	A	+	2	0	ZMYND15	4592099	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	1.076000	0.30729	0.969000	0.38237	-0.414000	0.06135	GCG		0.597	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		24	56	0	0	0	1	0	24	56					T	4645350	C	T	4645350	3	4	435	1	0	0	0	0	1	0	0	0	17705	768	27	1	978	1	ZMYND15	17	4645350	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	109854	4645350	76549860	7129	28054											
TM4SF5	9032	broad.mit.edu	37	chr17	4675222	4675222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgacacctcaccatgtGtacgggaaaatgtgcccgct	9	10	9	13	2	1	1	1	1	0	0	2	2	2	2	4	1	2	2	4	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4675222G>A	ENST00000270560.3	+	1	36	c.5G>A	c.(4-6)tGt>tAt	p.C2Y		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	2						integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(3)|ovary(1)	6						CTCACCATGTGTACGGGAAAA	0.572																																						ENST00000270560.3																			0				large_intestine(2)|lung(3)|ovary(1)	6						c.(4-6)tGt>tAt		transmembrane 4 L six family member 5							203	176	185					17																	4675222		2203	4300	6503	SO:0001583	missense	9032					integral to plasma membrane		g.chr17:4675222G>A	AF027204	CCDS11054.1	17p13.3	2007-01-06	2005-03-21		ENSG00000142484	ENSG00000142484			11857	protein-coding gene	gene with protein product		604657	"transmembrane 4 superfamily member 5"			9479038	Standard	NM_003963		Approved		uc002fyw.1	O14894	OTTHUMG00000090776	ENST00000270560.3:c.5G>A	17.37:g.4675222G>A	ENSP00000270560:p.Cys2Tyr						p.C2Y	NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN			1	36	+			2					Q17RW9|Q6IB79	Missense_Mutation	SNP	ENST00000270560.3	37	c.5G>A	CCDS11054.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714450	0.68730	.	.	ENSG00000142484	ENST00000270560	T	0.38401	1.14	5.27	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	M	0.87682	2.9	0.51233	D	0.999911	D	0.76494	0.999	D	0.74348	0.983	T	0.68754	-0.5325	10	0.87932	D	0	-16.382	11.6357	0.51202	0.0865:0.0:0.9135:0.0	.	2	O14894	T4S5_HUMAN	Y	2	ENSP00000270560:C2Y	ENSP00000270560:C2Y	C	+	2	0	TM4SF5	4621971	1.000000	0.71417	0.981000	0.43875	0.804000	0.45430	7.952000	0.87827	1.224000	0.43551	0.655000	0.94253	TGT		0.572	TM4SF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207558.2			6	114	0	0	0	1	0	6	114					A	4675222	G	A	4675222	3	1	435	1	0	0	0	0	1	0	0	0	15968	1377	48	3	7	3	TM4SF5	17	4675222	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29872	4675222	76519988	7130	28055											
PLD2	5338	broad.mit.edu	37	chr17	4725959	4725959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgctgcctgccatccaatGccacgcgttccctgcggact	5	9	9	18	4	0	0	0	0	0	0	3	1	3	1	6	1	4	2	6	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4725959G>A	ENST00000263088.6	+	25	2733	c.2602G>A	c.(2602-2604)Gcc>Acc	p.A868T	PLD2_ENST00000572940.1_Missense_Mutation_p.A857T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	868					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCCATCCAATGCCACGCGTTC	0.642																																						ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(2602-2604)Gcc>Acc		phospholipase D2	Choline(DB00122)						53	49	51					17																	4725959		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4725959G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.2602G>A	17.37:g.4725959G>A	ENSP00000263088:p.Ala868Thr					PLD2_ENST00000572940.1_Missense_Mutation_p.A857T	p.A868T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			25	2733	+			868					I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.2602G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659949	0.29515	.	.	ENSG00000129219	ENST00000263088	T	0.06294	3.32	5.64	5.64	0.86602	.	0.114571	0.64402	D	0.000015	T	0.05640	0.0148	N	0.20401	0.57	0.39148	D	0.962174	B;B	0.17852	0.024;0.006	B;B	0.25884	0.064;0.008	T	0.39099	-0.9630	10	0.09843	T	0.71	-25.8773	17.1963	0.86893	0.0:0.0:1.0:0.0	.	857;868	O14939-2;O14939	.;PLD2_HUMAN	T	868	ENSP00000263088:A868T	ENSP00000263088:A868T	A	+	1	0	PLD2	4672926	0.962000	0.33011	0.981000	0.43875	0.926000	0.56050	2.006000	0.40874	2.664000	0.90586	0.561000	0.74099	GCC		0.642	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		32	23	0	0	0	1	0	32	23					A	4725959	G	A	4725959	3	1	435	1	0	0	0	0	1	0	0	0	12046	1319	46	3	2696	3	PLD2	17	4725959	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	50737	4725959	76469251	7131	28056											
MINK1	1145	broad.mit.edu	37	chr17	4798728	4798728	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtatggactcattgggCggcgacgcttccagcagatg	8	9	15	9	3	1	1	1	0	0	1	2	3	2	2	1	4	1	3	1	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4798728C>T	ENST00000293780.4	-	0	2455				MINK1_ENST00000453408.3_Missense_Mutation_p.R1037W|MINK1_ENST00000347992.7_Missense_Mutation_p.R1028W|MINK1_ENST00000355280.6_Missense_Mutation_p.R1057W	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	ACTCATTGGGCGGCGACGCTT	0.622																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(3169-3171)Cgg>Tgg		misshapen-like kinase 1							81	86	84					17																	4798728		2139	4239	6378	SO:0001628	intergenic_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4798728C>T	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1966	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	100725	"cholinergic receptor, nicotinic, epsilon"			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4798728C>T						MINK1_ENST00000347992.7_Missense_Mutation_p.R1028W|MINK1_ENST00000453408.3_Missense_Mutation_p.R1037W	p.R1057W	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			26	3365	+			1057			CNH.|Mediates interaction with RAP2A.		D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.3169C>T	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517693	0.85495	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992;ENST00000542906	T;T;T	0.79352	-1.26;-1.26;-1.23	5.11	5.11	0.69529	Citron-like (3);	0.144113	0.49305	D	0.000151	D	0.88731	0.6516	M	0.84683	2.71	0.43164	D	0.99495	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.71184	0.972;0.952;0.972;0.952	D	0.90491	0.4467	10	0.87932	D	0	.	16.0869	0.81060	0.0:1.0:0.0:0.0	.	1020;1037;1057;1028	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	W	1057;1037;1028;17	ENSP00000347427:R1057W;ENSP00000406487:R1037W;ENSP00000269296:R1028W	ENSP00000269296:R1028W	R	+	1	2	MINK1	4739504	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.487000	0.22356	2.655000	0.90218	0.655000	0.94253	CGG		0.622	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			11	23	0	0	0	1	0	11	23					T	4798728	C	T	4798728	1	4	435	0	1	0	0	0	0	0	0	0	9587	759	27	1		1	MINK1	17	4798728	IGR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	72769	4798728	76396482	7132	28057											
SLC25A11	8402	broad.mit.edu	37	chr17	4841189	4841189	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacaactttgaacagcacGtcctagacacagacaggcag	14	5	10	12	2	0	3	0	1	0	2	1	4	1	4	1	2	3	2	1	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4841189G>A	ENST00000225665.7	-	8	1132	c.792C>T	c.(790-792)gaC>gaT	p.D264D	SLC25A11_ENST00000544061.2_Silent_p.D213D|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000571816.1_5'Flank|RNF167_ENST00000262482.6_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	264					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TGAACAGCACGTCCTAGACAC	0.632																																					Esophageal Squamous(144;1178 2388 18010 48797)	ENST00000225665.7																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						c.(790-792)gaC>gaT		solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11							70	79	76					17																	4841189		2203	4300	6503	SO:0001819	synonymous_variant	8402				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	g.chr17:4841189G>A	X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"Solute carriers"	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.792C>T	17.37:g.4841189G>A						SLC25A11_ENST00000544061.2_Silent_p.D213D	p.D264D	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN			8	1132	-			264					F5GY65|O75537|Q969P7	Silent	SNP	ENST00000225665.7	37	c.792C>T	CCDS11059.1																																																																																				0.632	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	NM_003562		17	23	0	0	0	1	0	17	23					A	4841189	G	A	4841189	2	1	435	1	0	0	0	0	0	0	0	1	14473	1136	40	1		1	SLC25A11	17	4841189	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42461	4841189	76354021	7133	28058											
ENO3	2027	broad.mit.edu	37	chr17	4860157	4860157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccccctgccgctcggagcGtctggccaaatacaaccaac	9	5	9	18	4	1	0	0	0	1	0	2	1	1	1	5	2	5	1	5	2	4	1	rs561474067	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4860157G>A	ENST00000323997.6	+	11	1340	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	ENO3_ENST00000518175.1_Missense_Mutation_p.R403H|ENO3_ENST00000519584.1_Missense_Mutation_p.R360H	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	403					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						CGCTCGGAGCGTCTGGCCAAA	0.587											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	8	0.00159744	0	0	5008	,	,		18333	0		0	False		,,,				2504	0.0082					ENST00000323997.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						c.(1207-1209)cGt>cAt		enolase 3 (beta, muscle)							154	166	162					17																	4860157		2203	4300	6503	SO:0001583	missense	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4860157G>A	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"enolase 3, (beta, muscle)"				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.1208G>A	17.37:g.4860157G>A	ENSP00000324105:p.Arg403His		OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	ENO3_ENST00000519584.1_Missense_Mutation_p.R360H|ENO3_ENST00000518175.1_Missense_Mutation_p.R403H	p.R403H	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN			11	1340	+			403					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	c.1208G>A	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141175	0.77775	.	.	ENSG00000108515	ENST00000323997;ENST00000519584;ENST00000518175	T;T;T	0.63744	-0.06;-0.06;-0.06	5.32	5.32	0.75619	Enolase, C-terminal (1);	0.107611	0.64402	D	0.000006	T	0.71048	0.3294	M	0.89353	3.025	0.80722	D	1	B;B;B	0.21821	0.051;0.061;0.051	B;B;B	0.27076	0.076;0.063;0.076	T	0.72337	-0.4324	10	0.66056	D	0.02	-27.9826	16.5841	0.84723	0.0:0.0:1.0:0.0	.	403;360;403	P13929;P13929-3;D3DTL2	ENOB_HUMAN;.;.	H	403;360;403	ENSP00000324105:R403H;ENSP00000430636:R360H;ENSP00000431087:R403H	ENSP00000324105:R403H	R	+	2	0	ENO3	4800881	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.821000	0.86641	2.786000	0.95864	0.585000	0.79938	CGT		0.587	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			45	70	0	0	0	1	0	45	70					A	4860157	G	A	4860157	3	1	435	1	0	0	0	0	1	0	0	0	5123	1145	40	1	1246	1	ENO3	17	4860157	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18968	4860157	76335053	7134	28059											
KIF1C	10749	broad.mit.edu	37	chr17	4903590	4903590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggttcggccctttaacGcccgtgagaccagccaggat	8	8	13	12	3	0	2	0	2	0	1	1	4	0	3	4	3	2	1	4	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4903590G>A	ENST00000320785.5	+	3	406	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	INCA1_ENST00000396829.2_5'Flank|INCA1_ENST00000355025.3_5'Flank|INCA1_ENST00000575780.1_5'Flank	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	17	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GCCCTTTAACGCCCGTGAGAC	0.627																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(49-51)Gcc>Acc		kinesin family member 1C							74	56	62					17																	4903590		2198	4297	6495	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4903590G>A	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.49G>A	17.37:g.4903590G>A	ENSP00000320821:p.Ala17Thr						p.A17T	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			3	406	+			17			Kinesin-motor.		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.49G>A	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457583	0.43634	.	.	ENSG00000129250	ENST00000320785	D	0.88277	-2.36	4.01	3.04	0.35103	Kinesin, motor domain (4);	.	.	.	.	T	0.82093	0.4962	L	0.41824	1.3	0.32522	N	0.536174	B	0.27416	0.178	B	0.26094	0.066	T	0.80681	-0.1274	9	0.54805	T	0.06	.	5.5368	0.17016	0.1084:0.0:0.6958:0.1957	.	17	O43896	KIF1C_HUMAN	T	17	ENSP00000320821:A17T	ENSP00000320821:A17T	A	+	1	0	KIF1C	4844314	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.478000	0.35442	0.971000	0.38288	0.467000	0.42956	GCC		0.627	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			3	3	0	0	0	1	0	3	3					A	4903590	G	A	4903590	3	1	435	1	0	0	0	0	1	0	0	0	8285	1087	38	1	51	1	KIF1C	17	4903590	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43433	4903590	76291620	7135	28060											
KIF1C	10749	broad.mit.edu	37	chr17	4927006	4927006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcagggctctgggggcCggggcggggggctgcgcagg	3	4	24	10	3	1	0	0	0	1	0	1	1	1	0	1	9	2	4	1	9	0	0	rs200230098		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4927006C>T	ENST00000320785.5	+	23	3229	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	958				SGGRGGGL -> LWGPGRGV (in Ref. 1; AAC52117). {ECO:0000305}.	ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CTCTGGGGGCCGGGGCGGGGG	0.687													C|||	1	0.000199681	0	0	5008	,	,		11961	0		0.001	False		,,,				2504	0				Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(2872-2874)Cgg>Tgg		kinesin family member 1C							12	15	14					17																	4927006		2110	4140	6250	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4927006C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2872C>T	17.37:g.4927006C>T	ENSP00000320821:p.Arg958Trp						p.R958W	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			23	3229	+			958	SGGRGGGL -> LWGPGRGV (in Ref. 1; AAC52117).				D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.2872C>T	CCDS11065.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.71	3.456622	0.63401	.	.	ENSG00000129250	ENST00000320785	T	0.73575	-0.76	4.93	4.93	0.64822	.	.	.	.	.	T	0.72985	0.3529	N	0.08118	0	0.38795	D	0.955071	D	0.89917	1.0	D	0.71414	0.973	T	0.78790	-0.2066	9	0.51188	T	0.08	.	15.6642	0.77213	0.0:1.0:0.0:0.0	.	958	O43896	KIF1C_HUMAN	W	958	ENSP00000320821:R958W	ENSP00000320821:R958W	R	+	1	2	KIF1C	4867730	0.584000	0.26766	1.000000	0.80357	0.980000	0.70556	0.558000	0.23469	2.558000	0.86282	0.655000	0.94253	CGG		0.687	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			21	13	0	0	0	1	0	21	13					T	4927006	C	T	4927006	3	4	435	1	0	0	0	0	1	0	0	0	8285	643	23	2	2954	2	KIF1C	17	4927006	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	23416	4927006	76268204	7136	28061											
USP6	9098	broad.mit.edu	37	chr17	5037204	5037204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgaaggagaggggcaagaGgtcatctgaacacatccacc	14	5	12	10	0	2	4	1	2	1	2	3	5	3	4	2	4	1	1	2	4	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:5037204G>T	ENST00000574788.1	+	15	2637	c.407G>T	c.(406-408)aGg>aTg	p.R136M	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.R136M|USP6_ENST00000332776.4_Missense_Mutation_p.R136M			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	136	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGGGGCAAGAGGTCATCTGAA	0.557			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(406-408)aGg>aTg		ubiquitin specific peptidase 6 (Tre-2 oncogene)							206	180	189					17																	5037204		2203	4300	6503	SO:0001583	missense	9098				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	g.chr17:5037204G>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.407G>T	17.37:g.5037204G>T	ENSP00000460380:p.Arg136Met					USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Missense_Mutation_p.R136M|USP6_ENST00000250066.6_Missense_Mutation_p.R136M	p.R136M			P35125	UBP6_HUMAN			15	2637	+			136			Rab-GAP TBC.		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.407G>T	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575313	0.45902	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.34859	1.34;1.34	0.862	-0.584	0.11702	Rab-GAP/TBC domain (4);	0.047968	0.85682	D	0.000000	T	0.26774	0.0655	L	0.58669	1.825	0.58432	D	0.999993	P;P	0.51537	0.946;0.851	B;B	0.41723	0.365;0.208	T	0.08659	-1.0711	10	0.87932	D	0	.	2.6311	0.04945	0.4852:0.0:0.5148:0.0	.	136;136	B9A6N0;P35125	.;UBP6_HUMAN	M	136	ENSP00000328010:R136M;ENSP00000250066:R136M	ENSP00000250066:R136M	R	+	2	0	USP6	4977928	0.001000	0.12720	0.144000	0.22314	0.145000	0.21501	-0.121000	0.10643	0.132000	0.18615	0.134000	0.15878	AGG		0.557	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		17	46	1	0	1.00905e-13	1	1.09755e-13	17	46					T	5037204	G	T	5037204	3	4	435	1	0	0	0	0	1	0	0	0	17083	1000	35	5	429	5	USP6	17	5037204	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	110198	5037204	76158006	7137	28062											
USP6	9098	broad.mit.edu	37	chr17	5042866	5042866	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acggacctggatatagggggCccttggttcccccattatga	8	10	12	11	1	0	1	0	1	0	0	1	3	1	3	4	5	0	1	4	5	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:5042866C>T	ENST00000574788.1	+	22	3625	c.1395C>T	c.(1393-1395)ggC>ggT	p.G465G	USP6_ENST00000304328.5_Silent_p.G148G|USP6_ENST00000250066.6_Silent_p.G465G|USP6_ENST00000332776.4_Silent_p.G465G			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	465					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATATAGGGGGCCCTTGGTTCC	0.617			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(1393-1395)ggC>ggT		ubiquitin specific peptidase 6 (Tre-2 oncogene)							47	54	52					17																	5042866		2203	4300	6503	SO:0001819	synonymous_variant	9098				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	g.chr17:5042866C>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1395C>T	17.37:g.5042866C>T						USP6_ENST00000304328.5_Silent_p.G148G|USP6_ENST00000332776.4_Silent_p.G465G|USP6_ENST00000250066.6_Silent_p.G465G	p.G465G			P35125	UBP6_HUMAN			22	3625	+			465					Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	c.1395C>T	CCDS11069.2																																																																																				0.617	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		9	26	0	0	0	1	0	9	26					T	5042866	C	T	5042866	2	4	435	1	0	0	0	0	0	0	0	1	17083	726	26	3		3	USP6	17	5042866	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5662	5042866	76152344	7138	28063											
ZNF594	84622	broad.mit.edu	37	chr17	5085329	5085329	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctcctcatccttgctgaaGgttttctcacattcttcaag	8	15	6	12	0	4	1	3	1	2	0	7	1	6	1	2	1	2	3	2	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:5085329G>T	ENST00000399604.4	-	1	2363	c.2223C>A	c.(2221-2223)acC>acA	p.T741T	ZNF594_ENST00000575779.1_Silent_p.T741T			Q96JF6	ZN594_HUMAN	zinc finger protein 594	741					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCTTGCTGAAGGTTTTCTCAC	0.443																																						ENST00000399604.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(2221-2223)acC>acA		zinc finger protein 594							207	213	211					17																	5085329		2084	4234	6318	SO:0001819	synonymous_variant	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085329G>T	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.2223C>A	17.37:g.5085329G>T						ZNF594_ENST00000575779.1_Silent_p.T741T	p.T741T			Q96JF6	ZN594_HUMAN			1	2363	-			741					Q6RFS0	Silent	SNP	ENST00000399604.4	37	c.2223C>A	CCDS42241.1																																																																																				0.443	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		48	107	1	0	2.56175e-15	1	2.80342e-15	48	107					T	5085329	G	T	5085329	2	4	435	1	0	0	0	0	0	0	0	1	18021	987	35	5		5	ZNF594	17	5085329	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42463	5085329	76109881	7139	28064											
RABEP1	9135	broad.mit.edu	37	chr17	5241315	5241315	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taattctttttaaccataggCccaagaggatgctgagaaac	14	11	8	8	0	1	2	0	1	1	2	1	4	1	3	2	2	3	1	2	2	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:5241315C>G	ENST00000546142.2	+	5	717	c.530C>G	c.(529-531)gCc>gGc	p.A177G	RABEP1_ENST00000408982.2_Splice_Site_p.A177G|RABEP1_ENST00000537505.1_Splice_Site_p.A134G|RABEP1_ENST00000341923.6_Splice_Site_p.A177G|RABEP1_ENST00000262477.6_Splice_Site_p.A177G			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	177					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TAACCATAGGCCCAAGAGGAT	0.353																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.e5-1		rabaptin, RAB GTPase binding effector protein 1							88	84	85					17																	5241315		1841	4105	5946	SO:0001630	splice_region_variant	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5241315C>G	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.529-1C>G	17.37:g.5241315C>G						RABEP1_ENST00000537505.1_Splice_Site_p.A134_splice|RABEP1_ENST00000546142.2_Splice_Site_p.A177_splice|RABEP1_ENST00000341923.6_Splice_Site_p.A177_splice|RABEP1_ENST00000408982.2_Splice_Site_p.A177_splice	p.A177_splice	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			5	754	+			177					B2RAG7|O95369|Q8IVX3	Splice_Site	SNP	ENST00000546142.2	37	c.528_splice	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914822	0.92178	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.71341	-0.55;-0.52;-0.55;-0.52;-0.56	5.35	5.35	0.76521	Rabaptin coiled-coil domain (1);	0.048943	0.85682	D	0.000000	D	0.82990	0.5157	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.998;0.998	D;D;D;D;D;D	0.87578	0.996;0.998;0.996;0.998;0.994;0.994	T	0.79555	-0.1755	10	0.26408	T	0.33	-6.9359	18.4318	0.90628	0.0:1.0:0.0:0.0	.	134;134;177;177;177;177	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2;F5GZU7	.;.;.;RABE1_HUMAN;.;.	G	177;177;177;177;177;134	ENSP00000262477:A177G;ENSP00000386150:A177G;ENSP00000437701:A177G;ENSP00000339569:A177G;ENSP00000445408:A134G	ENSP00000262477:A177G	A	+	2	0	RABEP1	5182039	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.403000	0.79983	2.678000	0.91216	0.591000	0.81541	GCC		0.353	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703	Missense_Mutation	32	45	0	0	0	1	0	32	45					G	5241315	C	G	5241315	5	3	435	1	0	0	0	0	0	0	1	0	12961	753	26	5	548	5	RABEP1	17	5241315	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	155986	5241315	75953895	7140	28065											
NUP88	4927	broad.mit.edu	37	chr17	5322726	5322726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgctggggccccgaaggCgaacgactaagaaggagctg	10	3	16	12	5	0	1	0	0	0	1	0	5	0	2	3	4	2	2	3	4	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:5322726C>T	ENST00000573584.1	-	1	754	c.245G>A	c.(244-246)cGc>cAc	p.R82H	RPAIN_ENST00000536255.2_5'Flank|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000381208.5_5'Flank|RPAIN_ENST00000405578.4_5'Flank|RPAIN_ENST00000381209.3_5'Flank|RPAIN_ENST00000327154.6_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	82					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GCCCCGAAGGCGAACGACTAA	0.642																																						ENST00000573584.1																			0				endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						c.(244-246)cGc>cAc		nucleoporin 88kDa							40	44	43					17																	5322726		2203	4300	6503	SO:0001583	missense	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5322726C>T	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.245G>A	17.37:g.5322726C>T	ENSP00000458954:p.Arg82His						p.R82H	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN			1	754	-			82					D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	c.245G>A	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779147	0.90195	.	.	ENSG00000108559	ENST00000225696	.	.	.	5.19	5.19	0.71726	.	0.255145	0.44688	D	0.000434	T	0.60728	0.2291	L	0.44542	1.39	0.35183	D	0.772694	D;D	0.71674	0.995;0.998	P;P	0.62649	0.699;0.905	T	0.67929	-0.5543	9	0.51188	T	0.08	-34.6215	12.0709	0.53616	0.0:0.9172:0.0:0.0828	.	82;82	B7Z5I6;Q99567	.;NUP88_HUMAN	H	82	.	ENSP00000225696:R82H	R	-	2	0	NUP88	5263450	0.999000	0.42202	0.994000	0.49952	0.972000	0.66771	2.539000	0.45718	2.865000	0.98341	0.655000	0.94253	CGC		0.642	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		9	33	0	0	0	1	0	9	33					T	5322726	C	T	5322726	3	4	435	1	0	0	0	0	1	0	0	0	10771	768	27	1	2048	1	NUP88	17	5322726	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	81411	5322726	75872484	7141	28066											
DHX33	56919	broad.mit.edu	37	chr17	5372013	5372013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggactggccgagggctggGccaggggcggctgctgcctc	4	5	20	12	2	0	0	0	0	0	0	1	2	0	1	3	7	2	3	3	7	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:5372013G>A	ENST00000225296.3	-	1	367	c.167C>T	c.(166-168)gCc>gTc	p.A56V	DHX33_ENST00000433302.3_Missense_Mutation_p.A56V|CTC-524C5.5_ENST00000571506.1_lincRNA	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	56					positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGAGGGCTGGGCCAGGGGCGG	0.701																																						ENST00000225296.3																			0				breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(166-168)gCc>gTc		DEAH (Asp-Glu-Ala-His) box polypeptide 33							14	16	15					17																	5372013		2186	4284	6470	SO:0001583	missense	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5372013G>A	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"DEAH-boxes"	16718	protein-coding gene	gene with protein product		614405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.167C>T	17.37:g.5372013G>A	ENSP00000225296:p.Ala56Val					DHX33_ENST00000433302.3_Missense_Mutation_p.A56V	p.A56V	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN			1	367	-			56					B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	c.167C>T	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.907109	0.33628	.	.	ENSG00000005100	ENST00000225296;ENST00000433302	T;T	0.26223	1.75;1.75	4.64	1.19	0.21007	.	0.395614	0.26546	N	0.023779	T	0.16214	0.0390	N	0.19112	0.55	0.20821	N	0.999843	B;B	0.11235	0.004;0.001	B;B	0.10450	0.005;0.002	T	0.22977	-1.0201	10	0.35671	T	0.21	.	13.5092	0.61502	0.0:0.4467:0.5533:0.0	.	56;56	Q05BE5;Q9H6R0	.;DHX33_HUMAN	V	56	ENSP00000225296:A56V;ENSP00000413779:A56V	ENSP00000225296:A56V	A	-	2	0	DHX33	5312737	0.910000	0.30920	1.000000	0.80357	0.967000	0.64934	0.082000	0.14847	0.637000	0.30526	-0.502000	0.04539	GCC		0.701	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		13	15	0	0	0	1	0	13	15					A	5372013	G	A	5372013	3	1	435	1	0	0	0	0	1	0	0	0	4506	1203	42	3	2004	3	DHX33	17	5372013	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	49287	5372013	75823197	7142	28067											
WSCD1	23302	broad.mit.edu	37	chr17	5993711	5993711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggctgccagcggtgagcGtggggctggaagagtgtaac	8	6	18	9	3	0	2	0	1	0	1	0	3	0	3	2	5	4	3	2	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:5993711G>A	ENST00000574946.1	+	4	1003	c.613G>A	c.(613-615)Gtg>Atg	p.V205M	WSCD1_ENST00000573634.1_Missense_Mutation_p.V89M|WSCD1_ENST00000574232.1_Missense_Mutation_p.V205M|WSCD1_ENST00000539421.1_Missense_Mutation_p.V205M|WSCD1_ENST00000317744.5_Missense_Mutation_p.V205M			Q658N2	WSCD1_HUMAN	WSC domain containing 1	205	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						AGCGGTGAGCGTGGGGCTGGA	0.662																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(613-615)Gtg>Atg		WSC domain containing 1							66	63	64					17																	5993711		2203	4300	6503	SO:0001583	missense	23302					integral to membrane	sulfotransferase activity	g.chr17:5993711G>A		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.613G>A	17.37:g.5993711G>A	ENSP00000460825:p.Val205Met					WSCD1_ENST00000539421.1_Missense_Mutation_p.V205M|WSCD1_ENST00000317744.5_Missense_Mutation_p.V205M|WSCD1_ENST00000574232.1_Missense_Mutation_p.V205M|WSCD1_ENST00000573634.1_Missense_Mutation_p.V89M	p.V205M			Q658N2	WSCD1_HUMAN			4	1003	+			205			WSC 1.		A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	c.613G>A	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	G	8.662	0.900780	0.17686	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.56275	0.47;0.47	6.04	2.7	0.31948	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.433356	0.23694	N	0.045496	T	0.46132	0.1377	M	0.64676	1.99	0.09310	N	1	B	0.19331	0.035	B	0.13407	0.009	T	0.39583	-0.9607	10	0.40728	T	0.16	-27.2974	8.9378	0.35711	0.1481:0.0:0.7217:0.1301	.	205	Q658N2	WSCD1_HUMAN	M	205	ENSP00000323087:V205M;ENSP00000446032:V205M	ENSP00000323087:V205M	V	+	1	0	WSCD1	5934435	0.033000	0.19621	0.008000	0.14137	0.034000	0.12701	1.021000	0.30040	0.897000	0.36392	0.563000	0.77884	GTG		0.662	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		8	73	0	0	0	1	0	8	73					A	5993711	G	A	5993711	3	1	435	1	0	0	0	0	1	0	0	0	17403	1145	40	1	623	1	WSCD1	17	5993711	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	621698	5993711	75201499	7143	28068											
FAM64A	54478	broad.mit.edu	37	chr17	6350973	6350973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagaaggagcatcaccGcctctctgtccggatgggct	7	8	14	12	2	2	1	1	0	1	1	4	4	3	3	3	4	1	2	3	4	1	0	rs369882202		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:6350973G>A	ENST00000250056.8	+	3	568	c.485G>A	c.(484-486)cGc>cAc	p.R162H	FAM64A_ENST00000576056.1_Missense_Mutation_p.R162H|FAM64A_ENST00000572595.2_Missense_Mutation_p.R193H|FAM64A_ENST00000570337.2_Missense_Mutation_p.R162H|FAM64A_ENST00000572447.1_Missense_Mutation_p.R162H|FAM64A_ENST00000571373.1_Missense_Mutation_p.R162H	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	162					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		GAGCATCACCGCCTCTCTGTC	0.652																																						ENST00000572447.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(484-486)cGc>cAc		family with sequence similarity 64, member A		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	26	27	27		485,485	0.4	0	17		27	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FAM64A	NM_019013.2,NM_001195228.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	162/239,162/249	6350973	1,13005	2203	4300	6503	SO:0001583	missense	54478					nucleolus	protein binding	g.chr17:6350973G>A		CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195			25483	protein-coding gene	gene with protein product	"CALM interacting protein expressed in thymus and spleen"					19383357, 16491119	Standard	NM_019013		Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000250056.8:c.485G>A	17.37:g.6350973G>A	ENSP00000250056:p.Arg162His					FAM64A_ENST00000571373.1_Missense_Mutation_p.R162H|FAM64A_ENST00000570337.2_Missense_Mutation_p.R162H|FAM64A_ENST00000572595.2_Missense_Mutation_p.R193H|FAM64A_ENST00000576056.1_Missense_Mutation_p.R162H|FAM64A_ENST00000250056.8_Missense_Mutation_p.R162H	p.R162H	NM_019013.2	NP_061886.2	Q9BSJ6	FA64A_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	3	594	+			162					Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP	ENST00000250056.8	37	c.485G>A	CCDS56016.1	.	.	.	.	.	.	.	.	.	.	G	9.261	1.043285	0.19748	0.0	1.16E-4	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.58060	0.36	4.6	0.362	0.16113	.	0.921112	0.09194	N	0.835584	T	0.37705	0.1013	L	0.31294	0.92	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.004	T	0.26608	-1.0098	10	0.25751	T	0.34	-0.7354	8.6724	0.34159	0.2841:0.0:0.7159:0.0	.	162;162	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	H	162	ENSP00000250056:R162H	ENSP00000250056:R162H	R	+	2	0	FAM64A	6291697	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.138000	0.10374	0.273000	0.22049	-1.332000	0.01269	CGC		0.652	FAM64A-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439156.1	NM_019013		3	10	0	0	0	1	0	3	10					A	6350973	G	A	6350973	3	1	435	1	0	0	0	0	1	0	0	0	5598	1087	38	1	491	1	FAM64A	17	6350973	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	357262	6350973	74844237	7144	28069											
KIAA0753	9851	broad.mit.edu	37	chr17	6526296	6526296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagctggcgaataaggctgCccagttccttacaccgagca	12	7	10	12	2	0	0	0	0	0	0	1	2	1	0	3	2	4	4	3	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:6526296C>T	ENST00000361413.3	-	6	1368	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	KIAA0753_ENST00000572370.1_Missense_Mutation_p.G38D|KIAA0753_ENST00000542606.1_Missense_Mutation_p.G38D|KIAA0753_ENST00000589033.1_5'Flank	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	337						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		AATAAGGCTGCCCAGTTCCTT	0.507																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(1009-1011)gGc>gAc		KIAA0753							84	82	83					17																	6526296		1934	4143	6077	SO:0001583	missense	9851					centrosome		g.chr17:6526296C>T		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1010G>A	17.37:g.6526296C>T	ENSP00000355250:p.Gly337Asp					KIAA0753_ENST00000572370.1_Missense_Mutation_p.G38D|KIAA0753_ENST00000542606.1_Missense_Mutation_p.G38D	p.G337D	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	6	1368	-			337					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.1010G>A	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941327	0.92526	.	.	ENSG00000198920	ENST00000361413;ENST00000542606	D;D	0.85629	-2.01;-2.01	5.7	5.7	0.88788	.	0.051599	0.85682	D	0.000000	D	0.92731	0.7689	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92927	0.6360	10	0.72032	D	0.01	-18.6815	17.7581	0.88456	0.0:1.0:0.0:0.0	.	337	Q2KHM9	K0753_HUMAN	D	337;38	ENSP00000355250:G337D;ENSP00000444634:G38D	ENSP00000355250:G337D	G	-	2	0	KIAA0753	6467020	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.367000	0.73099	2.878000	0.98634	0.650000	0.86243	GGC		0.507	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		21	27	0	0	0	1	0	21	27					T	6526296	C	T	6526296	3	4	435	1	0	0	0	0	1	0	0	0	8191	739	26	3	1949	3	KIAA0753	17	6526296	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	175323	6526296	74668914	7145	28070											
KIAA0753	9851	broad.mit.edu	37	chr17	6528142	6528142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgtctcctgatacggattCgacgttcttcatctggatcc	6	14	8	13	3	4	1	1	1	3	0	7	4	5	3	3	2	1	1	3	2	1	4	rs368409165		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:6528142C>T	ENST00000361413.3	-	4	1116	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_Intron	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	253						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GATACGGATTCGACGTTCTTC	0.428																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(757-759)cGa>cAa		KIAA0753		C	GLN/ARG	0,3900		0,0,1950	67	63	64		758	4.1	0.1	17		64	1,8259		0,1,4129	no	missense	KIAA0753	NM_014804.2	43	0,1,6079	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	253/968	6528142	1,12159	1950	4130	6080	SO:0001583	missense	9851					centrosome		g.chr17:6528142C>T		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.758G>A	17.37:g.6528142C>T	ENSP00000355250:p.Arg253Gln					KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_Intron	p.R253Q	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	4	1116	-			253					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.758G>A	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864200	0.71949	0.0	1.21E-4	ENSG00000198920	ENST00000361413	T	0.09630	2.96	5.08	4.09	0.47781	.	0.147539	0.45361	D	0.000369	T	0.20618	0.0496	M	0.69823	2.125	0.41644	D	0.989099	D	0.61080	0.989	P	0.51582	0.674	T	0.00717	-1.1596	10	0.44086	T	0.13	-10.8433	12.2117	0.54383	0.0:0.9105:0.0:0.0895	.	253	Q2KHM9	K0753_HUMAN	Q	253	ENSP00000355250:R253Q	ENSP00000355250:R253Q	R	-	2	0	KIAA0753	6468866	0.597000	0.26874	0.056000	0.19401	0.938000	0.57974	1.988000	0.40697	2.537000	0.85549	0.650000	0.86243	CGA		0.428	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		4	6	0	0	0	1	0	4	6					T	6528142	C	T	6528142	3	4	435	1	0	0	0	0	1	0	0	0	8191	884	31	2	2209	2	KIAA0753	17	6528142	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1846	6528142	74667068	7146	28071											
KIAA0753	9851	broad.mit.edu	37	chr17	6531530	6531530	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttttctgttcacttatgtTtttgtggtcacctatcctgg	4	20	8	9	0	3	0	2	0	1	0	4	0	4	0	2	2	0	3	2	2	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:6531530T>G	ENST00000361413.3	-	3	983	c.625A>C	c.(625-627)Aac>Cac	p.N209H	KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	209						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TCACTTATGTTTTTGTGGTCA	0.458																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(625-627)Aac>Cac		KIAA0753							123	117	119					17																	6531530		1952	4138	6090	SO:0001583	missense	9851					centrosome		g.chr17:6531530T>G		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.625A>C	17.37:g.6531530T>G	ENSP00000355250:p.Asn209His					KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_5'UTR	p.N209H	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	3	983	-			209					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.625A>C	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	T	9.276	1.046864	0.19748	.	.	ENSG00000198920	ENST00000361413	T	0.09538	2.97	5.34	3.08	0.35506	.	0.858430	0.10678	N	0.646702	T	0.11537	0.0281	L	0.36672	1.1	0.18873	N	0.999987	P	0.36315	0.547	B	0.41036	0.346	T	0.26849	-1.0091	10	0.54805	T	0.06	-0.7018	7.428	0.27111	0.0:0.1892:0.0:0.8108	.	209	Q2KHM9	K0753_HUMAN	H	209	ENSP00000355250:N209H	ENSP00000355250:N209H	N	-	1	0	KIAA0753	6472254	0.109000	0.22037	0.039000	0.18376	0.215000	0.24574	0.644000	0.24766	0.970000	0.38263	0.533000	0.62120	AAC		0.458	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		18	46	0	0	0	1	0	18	46					G	6531530	T	G	6531530	3	3	435	1	0	0	0	0	1	0	0	0	8191	1841	64	5	2346	5	KIAA0753	17	6531530	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	3388	6531530	74663680	7147	28072											
SLC13A5	284111	broad.mit.edu	37	chr17	6610467	6610467	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggatgatgacgtaggcacaCctgacaaactgaagagacag	16	5	12	8	1	0	5	0	4	0	1	0	7	0	6	1	2	1	2	1	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:6610467C>T	ENST00000433363.2	-	2	344	c.111G>A	c.(109-111)agG>agA	p.R37R	SLC13A5_ENST00000381074.4_Intron|SLC13A5_ENST00000573648.1_Silent_p.R37R|SLC13A5_ENST00000293800.6_Silent_p.R37R	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	37					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CGTAGGCACACCTGACAAACT	0.572																																						ENST00000433363.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(109-111)agG>agA		solute carrier family 13 (sodium-dependent citrate transporter), member 5							153	134	141					17																	6610467		2203	4300	6503	SO:0001819	synonymous_variant	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6610467C>T	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"Solute carriers"	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.111G>A	17.37:g.6610467C>T						SLC13A5_ENST00000293800.6_Silent_p.R37R|SLC13A5_ENST00000381074.4_Intron|SLC13A5_ENST00000573648.1_Silent_p.R37R	p.R37R	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN			2	344	-			37					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	37	c.111G>A	CCDS11079.1																																																																																				0.572	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		9	12	0	0	0	1	0	9	12					T	6610467	C	T	6610467	2	4	435	1	0	0	0	0	0	0	0	1	14395	506	18	3		3	SLC13A5	17	6610467	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	78937	6610467	74584743	7148	28073											
FBXO39	162517	broad.mit.edu	37	chr17	6684071	6684071	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgaacggatcatgaagtAcgaacgcttggcccgaatcc	11	9	10	11	4	1	2	1	2	0	0	2	5	2	3	2	2	3	2	2	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:6684071A>G	ENST00000321535.4	+	2	1014	c.884A>G	c.(883-885)tAc>tGc	p.Y295C		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	295										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						ATCATGAAGTACGAACGCTTG	0.542																																						ENST00000321535.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						c.(883-885)tAc>tGc		F-box protein 39							68	55	60					17																	6684071		2203	4300	6503	SO:0001583	missense	162517							g.chr17:6684071A>G	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"F-boxes /  "other""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.884A>G	17.37:g.6684071A>G	ENSP00000321386:p.Tyr295Cys						p.Y295C	NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN			2	1014	+			295						Missense_Mutation	SNP	ENST00000321535.4	37	c.884A>G	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.911525	0.52439	.	.	ENSG00000177294	ENST00000321535	T	0.51071	0.72	5.02	5.02	0.67125	.	0.221277	0.31936	N	0.006827	T	0.45875	0.1364	L	0.27053	0.805	0.29530	N	0.852874	D	0.59767	0.986	P	0.54499	0.754	T	0.42464	-0.9450	10	0.37606	T	0.19	-15.4153	11.7215	0.51685	1.0:0.0:0.0:0.0	.	295	Q8N4B4	FBX39_HUMAN	C	295	ENSP00000321386:Y295C	ENSP00000321386:Y295C	Y	+	2	0	FBXO39	6624795	0.990000	0.36364	0.947000	0.38551	0.953000	0.61014	4.220000	0.58567	2.188000	0.69820	0.528000	0.53228	TAC		0.542	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		16	22	0	0	0	1	0	16	22					G	6684071	A	G	6684071	3	3	435	1	0	0	0	0	1	0	0	0	5747	391	14	4	886	4	FBXO39	17	6684071	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	73604	6684071	74511139	7149	28074											
ALOX12	239	broad.mit.edu	37	chr17	6902685	6902685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctaccagttcctcaatggtgCcaaccccatgctgttgagac	9	10	8	14	0	1	1	1	1	0	1	2	2	2	1	5	1	4	3	5	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:6902685C>T	ENST00000251535.6	+	6	760	c.707C>T	c.(706-708)gCc>gTc	p.A236V	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_3'UTR|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	236	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CTCAATGGTGCCAACCCCATG	0.552																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(706-708)gCc>gTc		arachidonate 12-lipoxygenase							181	141	154					17																	6902685		2203	4300	6503	SO:0001583	missense	239				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	g.chr17:6902685C>T	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"Arachidonate lipoxygenases"	429	protein-coding gene	gene with protein product	"platelet 12-LOX"	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.707C>T	17.37:g.6902685C>T	ENSP00000251535:p.Ala236Val					AC027763.2_ENST00000574377.1_3'UTR|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron	p.A236V	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN			6	760	+			236			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	ENST00000251535.6	37	c.707C>T	CCDS11084.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568432	0.45798	.	.	ENSG00000108839	ENST00000251535	T	0.74947	-0.89	5.13	3.15	0.36227	Lipoxygenase, C-terminal (3);	0.556579	0.20191	N	0.097307	T	0.51991	0.1707	N	0.21194	0.64	0.31116	N	0.709454	B	0.19706	0.038	B	0.20767	0.031	T	0.45948	-0.9226	10	0.06236	T	0.91	-2.565	6.1206	0.20151	0.0:0.7231:0.0:0.2769	.	236	P18054	LOX12_HUMAN	V	236	ENSP00000251535:A236V	ENSP00000251535:A236V	A	+	2	0	ALOX12	6843409	0.000000	0.05858	0.880000	0.34516	0.937000	0.57800	-0.024000	0.12435	1.533000	0.49186	0.643000	0.83706	GCC		0.552	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			5	37	0	0	0	1	0	5	37					T	6902685	C	T	6902685	3	4	435	1	0	0	0	0	1	0	0	0	536	739	26	3	729	3	ALOX12	17	6902685	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	218614	6902685	74292525	7150	28075											
SLC16A11	162515	broad.mit.edu	37	chr17	6945091	6945091	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccgtctctgggggaggCgtggctggaggggaggctgg	3	7	21	10	2	1	0	0	0	1	0	3	3	2	3	2	9	0	2	2	9	0	0	rs561048667		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:6945091C>T	ENST00000308009.1	-	4	1660	c.1323G>A	c.(1321-1323)acG>acA	p.T441T	SLC16A11_ENST00000447225.1_Silent_p.T409T	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	441					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						CTGGGGGAGGCGTGGCTGGAG	0.617																																						ENST00000308009.1																			0				endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						c.(1321-1323)acG>acA		solute carrier family 16, member 11							23	30	27					17																	6945091		2201	4289	6490	SO:0001819	synonymous_variant	162515					integral to membrane|plasma membrane	symporter activity	g.chr17:6945091C>T	AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"Solute carriers"	23093	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 11"	615765	"solute carrier family 16 (monocarboxylic acid transporters), member 11"				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.1323G>A	17.37:g.6945091C>T						SLC16A11_ENST00000447225.1_Silent_p.T409T	p.T441T	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN			4	1660	-			441						Silent	SNP	ENST00000308009.1	37	c.1323G>A	CCDS11086.1																																																																																				0.617	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	NM_153357		4	11	0	0	0	1	0	4	11					T	6945091	C	T	6945091	2	4	435	1	0	0	0	0	0	0	0	1	14404	755	27	1		1	SLC16A11	17	6945091	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	42406	6945091	74250119	7151	28076											
DLG4	1742	broad.mit.edu	37	chr17	7097030	7097030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctcagaaccgagtcttctCgacctggtgggaggtggggc	7	8	16	10	2	3	1	1	0	2	1	4	4	3	2	2	5	2	1	2	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7097030C>T	ENST00000399506.2	-	15	1738	c.1547G>A	c.(1546-1548)cGa>cAa	p.R516Q	DLG4_ENST00000399510.2_Missense_Mutation_p.R559Q|DLG4_ENST00000302955.6_Missense_Mutation_p.R513Q			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	516					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)	p.R559Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CGAGTCTTCTCGACCTGGTGG	0.612																																						ENST00000399510.2																			1	Substitution - Missense(1)	p.R559Q(1)	ovary(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(1675-1677)cGa>cAa		discs, large homolog 4 (Drosophila)							64	73	70					17																	7097030		2007	4176	6183	SO:0001583	missense	1742				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	g.chr17:7097030C>T	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1547G>A	17.37:g.7097030C>T	ENSP00000382425:p.Arg516Gln					DLG4_ENST00000399506.2_Missense_Mutation_p.R516Q|DLG4_ENST00000302955.6_Missense_Mutation_p.R513Q	p.R559Q	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			17	2528	-			516			Guanylate kinase-like.		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.1676G>A		.	.	.	.	.	.	.	.	.	.	C	12.70	2.017973	0.35606	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	D;D;D	0.82167	-1.58;-1.58;-1.58	5.2	5.2	0.72013	Src homology-3 domain (1);	.	.	.	.	T	0.80549	0.4644	N	0.16368	0.405	0.52099	D	0.999943	B;B;B;D	0.71674	0.003;0.003;0.092;0.998	B;B;B;D	0.79784	0.006;0.006;0.042;0.993	T	0.74312	-0.3706	9	0.12103	T	0.63	.	9.6178	0.39704	0.0:0.908:0.0:0.092	.	556;516;513;559	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	Q	516;513;559;559;456;559	ENSP00000382425:R516Q;ENSP00000307471:R513Q;ENSP00000382428:R559Q	ENSP00000293813:R559Q	R	-	2	0	DLG4	7037754	0.984000	0.35163	1.000000	0.80357	0.974000	0.67602	0.892000	0.28322	2.722000	0.93159	0.655000	0.94253	CGA		0.612	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		5	11	0	0	0	1	0	5	11					T	7097030	C	T	7097030	3	4	435	1	0	0	0	0	1	0	0	0	4557	884	31	2	651	2	DLG4	17	7097030	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	151939	7097030	74098180	7152	28077											
DVL2	1856	broad.mit.edu	37	chr17	7132764	7132764	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacgctgctgaaggatgaCgtctgtggtgggaaaaggag	10	8	18	5	2	1	3	0	3	1	0	1	6	1	6	0	4	1	2	0	4	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7132764C>T	ENST00000005340.5	-	7	1032	c.750G>A	c.(748-750)acG>acA	p.T250T	DVL2_ENST00000575458.1_Silent_p.T244T|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	250					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TGAAGGATGACGTCTGTGGTG	0.572																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(748-750)acG>acA		dishevelled segment polarity protein 2							131	125	128					17																	7132764		2203	4300	6503	SO:0001819	synonymous_variant	1856				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	g.chr17:7132764C>T	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.750G>A	17.37:g.7132764C>T						DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Silent_p.T244T	p.T250T	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			7	1032	-			250					D3DTN3|Q53XM0	Silent	SNP	ENST00000005340.5	37	c.750G>A	CCDS11091.1																																																																																				0.572	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		17	43	0	0	0	1	0	17	43					T	7132764	C	T	7132764	2	4	435	1	0	0	0	0	0	0	0	1	4836	523	19	1		1	DVL2	17	7132764	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	35734	7132764	74062446	7153	28078											
DVL2	1856	broad.mit.edu	37	chr17	7133391	7133391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcactgctgtctctcctgCgaggccgctcccgcctcagt	3	10	10	18	3	3	0	2	0	1	0	6	1	5	0	4	1	2	3	4	1	0	0	rs144205338		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7133391C>T	ENST00000005340.5	-	4	776	c.494G>A	c.(493-495)cGc>cAc	p.R165H	DVL2_ENST00000575458.1_Missense_Mutation_p.R159H|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	165					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GTCTCTCCTGCGAGGCCGCTC	0.642																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(493-495)cGc>cAc		dishevelled segment polarity protein 2							47	44	45					17																	7133391		2203	4300	6503	SO:0001583	missense	1856				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	g.chr17:7133391C>T	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.494G>A	17.37:g.7133391C>T	ENSP00000005340:p.Arg165His					DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Missense_Mutation_p.R159H	p.R165H	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			4	776	-			165					D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.494G>A	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495159	0.85069	.	.	ENSG00000004975	ENST00000005340	T	0.04970	3.52	5.32	5.32	0.75619	Dishevelled protein domain (1);	0.000000	0.85682	D	0.000000	T	0.17492	0.0420	L	0.56280	1.765	0.47341	D	0.999391	D;D;D;D	0.89917	1.0;0.977;1.0;1.0	D;P;D;D	0.87578	0.998;0.581;0.997;0.97	T	0.00759	-1.1578	10	0.32370	T	0.25	-14.4293	10.0093	0.41977	0.0:0.9077:0.0:0.0923	.	72;159;165;165	B4DM44;B4DLQ0;B4E2D6;O14641	.;.;.;DVL2_HUMAN	H	165	ENSP00000005340:R165H	ENSP00000005340:R165H	R	-	2	0	DVL2	7074115	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.760000	0.68793	2.492000	0.84095	0.609000	0.83330	CGC		0.642	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		17	20	0	0	0	1	0	17	20					T	7133391	C	T	7133391	3	4	435	1	0	0	0	0	1	0	0	0	4836	768	27	1	1764	1	DVL2	17	7133391	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	627	7133391	74061819	7154	28079											
EIF5A	1984	broad.mit.edu	37	chr17	7214356	7214356	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccatctggttggtattgAcatctttactgggaagaaat	10	14	11	6	0	2	2	0	1	2	1	3	3	3	3	1	4	1	2	1	4	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7214356A>T	ENST00000336458.8	+	3	586	c.185A>T	c.(184-186)gAc>gTc	p.D62V	EIF5A_ENST00000419711.2_Missense_Mutation_p.D62V|EIF5A_ENST00000336452.7_Missense_Mutation_p.D92V|EIF5A_ENST00000576930.1_Missense_Mutation_p.D62V|EIF5A_ENST00000571955.1_Missense_Mutation_p.D62V|EIF5A_ENST00000572815.1_Missense_Mutation_p.D62V|EIF5A_ENST00000573542.1_Missense_Mutation_p.D62V|EIF5A_ENST00000416016.2_Missense_Mutation_p.D62V	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	62	DOHH-binding.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						GTTGGTATTGACATCTTTACT	0.408																																						ENST00000336458.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						c.(184-186)gAc>gTc		eukaryotic translation initiation factor 5A							110	92	98					17																	7214356		2203	4300	6503	SO:0001583	missense	1984				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	g.chr17:7214356A>T		CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			ENSG00000132507	ENSG00000132507			3300	protein-coding gene	gene with protein product		600187				7759117	Standard	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	P63241	OTTHUMG00000102197	ENST00000336458.8:c.185A>T	17.37:g.7214356A>T	ENSP00000336776:p.Asp62Val					EIF5A_ENST00000576930.1_Missense_Mutation_p.D62V|EIF5A_ENST00000571955.1_Missense_Mutation_p.D62V|EIF5A_ENST00000419711.2_Missense_Mutation_p.D62V|EIF5A_ENST00000416016.2_Missense_Mutation_p.D62V|EIF5A_ENST00000336452.7_Missense_Mutation_p.D92V|EIF5A_ENST00000573542.1_Missense_Mutation_p.D62V|EIF5A_ENST00000572815.1_Missense_Mutation_p.D62V	p.D62V	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN			3	586	+			62			DOHH-binding.		A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Missense_Mutation	SNP	ENST00000336458.8	37	c.185A>T	CCDS11099.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026338	0.75390	.	.	ENSG00000132507	ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.34	4.34	0.51931	Translation protein SH3-like (1);Translation protein SH3-like, subgroup (1);	0.067867	0.56097	D	0.000023	T	0.81113	0.4755	H	0.97659	4.05	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.83275	0.986;0.996	D	0.87321	0.2318	10	0.87932	D	0	-26.9933	12.9051	0.58147	1.0:0.0:0.0:0.0	.	62;92	P63241;P63241-2	IF5A1_HUMAN;.	V	92;62;62;62	ENSP00000336702:D92V;ENSP00000336776:D62V;ENSP00000390677:D62V;ENSP00000396073:D62V	ENSP00000336702:D92V	D	+	2	0	EIF5A	7155080	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.387000	0.90167	1.962000	0.57031	0.459000	0.35465	GAC		0.408	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220047.3	NM_001970		44	60	0	0	0	1	0	44	60					T	7214356	A	T	7214356	3	4	435	1	0	0	0	0	1	0	0	0	5041	275	10	5	285	5	EIF5A	17	7214356	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	80965	7214356	73980854	7155	28080											
GPS2	2874	broad.mit.edu	37	chr17	7216091	7216091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggtcacttgtggtagaatCgcgggttctggctgtgttgg	5	14	16	6	2	2	1	1	0	1	1	3	1	2	1	0	5	0	4	0	5	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7216091C>T	ENST00000380728.2	-	11	1268	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	GPS2_ENST00000389167.5_Missense_Mutation_p.R323Q|GPS2_ENST00000391950.3_Intron|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	323					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			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)				GTGGTAGAATCGCGGGTTCTG	0.552																																						ENST00000380728.2																			0				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						c.(967-969)cGa>cAa		G protein pathway suppressor 2							194	198	197					17																	7216091		2203	4300	6503	SO:0001583	missense	2874				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7216091C>T	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.968G>A	17.37:g.7216091C>T	ENSP00000370104:p.Arg323Gln					GPS2_ENST00000389167.5_Missense_Mutation_p.R323Q|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Intron	p.R323Q			Q13227	GPS2_HUMAN			11	1268	-		Prostate(122;0.157)	323					B4DXA1|Q6FHM8	Missense_Mutation	SNP	ENST00000380728.2	37	c.968G>A	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528924	0.64860	.	.	ENSG00000132522	ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.58060	0.36;0.36	4.75	4.75	0.60458	.	0.000000	0.64402	U	0.000003	T	0.61148	0.2324	L	0.27053	0.805	0.80722	D	1	D	0.64830	0.994	D	0.72982	0.979	T	0.66139	-0.5998	10	0.87932	D	0	-1.4182	16.6908	0.85321	0.0:1.0:0.0:0.0	.	323	Q13227	GPS2_HUMAN	Q	323	ENSP00000370104:R323Q;ENSP00000379841:R323Q	ENSP00000319371:R323Q	R	-	2	0	GPS2	7156815	0.733000	0.28132	0.096000	0.21009	0.991000	0.79684	4.898000	0.63238	2.467000	0.83353	0.650000	0.86243	CGA		0.552	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		13	75	0	0	0	1	0	13	75					T	7216091	C	T	7216091	3	4	435	1	0	0	0	0	1	0	0	0	6733	884	31	2	19	2	GPS2	17	7216091	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1735	7216091	73979119	7156	28081											
GPS2	2874	broad.mit.edu	37	chr17	7216788	7216788	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagggaatgccgaaggaGctgagaaaggaaaagacaga	17	3	15	6	1	0	3	0	1	0	3	0	8	0	6	1	3	3	2	1	3	5	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7216788G>A	ENST00000380728.2	-	8	935	c.635C>T	c.(634-636)gCt>gTt	p.A212V	GPS2_ENST00000389167.5_Splice_Site_p.A212V|GPS2_ENST00000391950.3_Splice_Site_p.A212V|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	212					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			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)				TGCCGAAGGAGCTGAGAAAGG	0.502											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380728.2																			0				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						c.e8-1		G protein pathway suppressor 2							80	82	82					17																	7216788		2203	4300	6503	SO:0001630	splice_region_variant	2874				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7216788G>A	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.635-1C>T	17.37:g.7216788G>A			OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	GPS2_ENST00000389167.5_Splice_Site_p.A212_splice|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Splice_Site_p.A212_splice	p.A212_splice			Q13227	GPS2_HUMAN			8	935	-		Prostate(122;0.157)	212					B4DXA1|Q6FHM8	Splice_Site	SNP	ENST00000380728.2	37	c.634_splice	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465463	0.63513	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.48836	0.8;0.8	4.86	4.86	0.63082	.	0.071416	0.53938	U	0.000050	T	0.33990	0.0882	N	0.14661	0.345	0.34765	D	0.733081	P	0.46512	0.879	B	0.42916	0.402	T	0.52734	-0.8536	10	0.62326	D	0.03	.	13.2783	0.60200	0.0:0.1603:0.8397:0.0	.	212	Q13227	GPS2_HUMAN	V	212	ENSP00000370104:A212V;ENSP00000379841:A212V	ENSP00000319371:A212V	A	-	2	0	GPS2	7157512	1.000000	0.71417	0.999000	0.59377	0.503000	0.33858	4.039000	0.57325	2.518000	0.84900	0.655000	0.94253	GCT		0.502	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489	Missense_Mutation	19	24	0	0	0	1	0	19	24					A	7216788	G	A	7216788	5	1	435	1	0	0	0	0	0	0	1	0	6733	985	34	3	364	3	GPS2	17	7216788	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	697	7216788	73978422	7157	28082											
GPS2	2874	broad.mit.edu	37	chr17	7217629	7217629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctgttcctttcgcctccGtttttcttcctcatgtaaaa	5	18	4	14	2	3	0	1	0	2	0	7	0	6	0	5	0	0	3	5	0	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7217629G>A	ENST00000380728.2	-	4	598	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	NEURL4_ENST00000574120.1_5'Flank|GPS2_ENST00000389167.5_Missense_Mutation_p.R100W|GPS2_ENST00000391950.3_Missense_Mutation_p.R100W|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	100					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			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)				TTTCGCCTCCGTTTTTCTTCC	0.458																																						ENST00000380728.2																			0				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						c.(298-300)Cgg>Tgg		G protein pathway suppressor 2							145	143	144					17																	7217629		2203	4300	6503	SO:0001583	missense	2874				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7217629G>A	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.298C>T	17.37:g.7217629G>A	ENSP00000370104:p.Arg100Trp					GPS2_ENST00000389167.5_Missense_Mutation_p.R100W|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.R100W	p.R100W			Q13227	GPS2_HUMAN			4	598	-		Prostate(122;0.157)	100					B4DXA1|Q6FHM8	Missense_Mutation	SNP	ENST00000380728.2	37	c.298C>T	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738057	0.49045	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T;T	0.60424	0.19;0.19;0.19	4.69	3.65	0.41850	.	0.000000	0.64402	U	0.000003	T	0.59932	0.2230	N	0.19112	0.55	0.53688	D	0.999971	D	0.89917	1.0	D	0.80764	0.994	T	0.64360	-0.6426	10	0.87932	D	0	.	11.7609	0.51903	0.0:0.0:0.8129:0.1871	.	100	Q13227	GPS2_HUMAN	W	100	ENSP00000438697:R100W;ENSP00000370104:R100W;ENSP00000379841:R100W	ENSP00000319371:R100W	R	-	1	2	GPS2	7158353	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.739000	0.47409	2.443000	0.82685	0.591000	0.81541	CGG		0.458	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		40	44	0	0	0	1	0	40	44					A	7217629	G	A	7217629	3	1	435	1	0	0	0	0	1	0	0	0	6733	1144	40	1	717	1	GPS2	17	7217629	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	841	7217629	73977581	7158	28083											
KCTD11	147040	broad.mit.edu	37	chr17	7256426	7256426	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgggtacggagagacagcGctgctcagggcagaggctga	9	5	18	9	3	1	3	1	1	0	2	1	5	1	4	0	4	3	5	0	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7256426G>A	ENST00000333751.3	+	1	1219	c.165G>A	c.(163-165)gcG>gcA	p.A55A	TMEM95_ENST00000389982.4_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000576060.1_5'Flank|TMEM95_ENST00000330767.4_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	55					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				GAGAGACAGCGCTGCTCAGGG	0.667																																						ENST00000333751.3																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(163-165)gcG>gcA		potassium channel tetramerization domain containing 11							27	26	26					17																	7256426		2203	4300	6503	SO:0001819	synonymous_variant	147040				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:7256426G>A	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"chromosome 17 open reading frame 36", "potassium channel tetramerisation domain containing 11"	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.165G>A	17.37:g.7256426G>A						RP11-542C16.1_ENST00000572417.1_RNA	p.A55A	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN			1	1219	+		Prostate(122;0.157)	55					B3KPE0	Silent	SNP	ENST00000333751.3	37	c.165G>A	CCDS32545.1																																																																																				0.667	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	NM_001002914		6	7	0	0	0	1	0	6	7					A	7256426	G	A	7256426	2	1	435	1	0	0	0	0	0	0	0	1	8098	1074	38	1		1	KCTD11	17	7256426	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38797	7256426	73938784	7159	28084											
TNK1	8711	broad.mit.edu	37	chr17	7287852	7287852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcgtctgcctcggacGtgtggatgtttggggtgacg	3	13	15	10	4	2	1	0	1	2	0	4	3	2	3	2	4	1	1	2	4	0	2	rs376599357		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7287852G>A	ENST00000576812.1	+	7	1285	c.916G>A	c.(916-918)Gtg>Atg	p.V306M	TNK1_ENST00000311668.2_Missense_Mutation_p.V306M|TNK1_ENST00000570896.1_Missense_Mutation_p.V306M	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				TGCCTCGGACGTGTGGATGTT	0.667																																						ENST00000570896.1																			0				central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16						c.(916-918)Gtg>Atg		tyrosine kinase, non-receptor, 1		G	MET/VAL	0,4218		0,0,2109	27	31	30		916	5	1	17		30	1,8437		0,1,4218	no	missense	TNK1	NM_003985.3	21	0,1,6327	AA,AG,GG		0.0119,0.0,0.0079	probably-damaging	306/662	7287852	1,12655	2109	4219	6328	SO:0001583	missense	8711				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chr17:7287852G>A	U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.916G>A	17.37:g.7287852G>A	ENSP00000459799:p.Val306Met					TNK1_ENST00000311668.2_Missense_Mutation_p.V306M|TNK1_ENST00000576812.1_Missense_Mutation_p.V306M	p.V306M			Q13470	TNK1_HUMAN			8	1362	+		Prostate(122;0.157)	306			Protein kinase.			Missense_Mutation	SNP	ENST00000576812.1	37	c.916G>A	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867393	0.91511	0.0	1.19E-4	ENSG00000174292	ENST00000311668	D	0.88431	-2.38	4.97	4.97	0.65823	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44285	D	0.000468	D	0.94791	0.8318	M	0.85630	2.765	0.48236	D	0.999619	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.95112	0.8239	10	0.72032	D	0.01	.	16.1351	0.81476	0.0:0.0:1.0:0.0	.	306;306	Q13470-2;Q13470	.;TNK1_HUMAN	M	306	ENSP00000312309:V306M	ENSP00000312309:V306M	V	+	1	0	TNK1	7228576	0.957000	0.32711	0.998000	0.56505	0.964000	0.63967	2.308000	0.43690	2.764000	0.94973	0.555000	0.69702	GTG		0.667	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	NM_003985		8	9	0	0	0	1	0	8	9					A	7287852	G	A	7287852	3	1	435	1	0	0	0	0	1	0	0	0	16314	1145	40	1	938	1	TNK1	17	7287852	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31426	7287852	73907358	7160	28085											
NLGN2	57555	broad.mit.edu	37	chr17	7317668	7317668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctccccacacagatatcCgtgaccctgggaagaagcct	10	6	8	17	1	0	3	0	1	0	2	2	4	2	4	7	1	1	0	7	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7317668C>T	ENST00000302926.2	+	3	587	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C	NLGN2_ENST00000575301.1_Missense_Mutation_p.R172C	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	172					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CACAGATATCCGTGACCCTGG	0.627																																						ENST00000302926.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22						c.(514-516)Cgt>Tgt		neuroligin 2							43	43	43					17																	7317668		2203	4300	6503	SO:0001583	missense	57555				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	g.chr17:7317668C>T	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.514C>T	17.37:g.7317668C>T	ENSP00000305288:p.Arg172Cys					NLGN2_ENST00000575301.1_Missense_Mutation_p.R172C	p.R172C	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN			3	587	+		Prostate(122;0.157)	172					Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	c.514C>T	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045359	0.55110	.	.	ENSG00000169992	ENST00000302926	T	0.69040	-0.37	4.84	4.84	0.62591	Carboxylesterase, type B (1);	0.105446	0.37669	N	0.001994	T	0.63931	0.2553	L	0.55103	1.725	0.80722	D	1	P	0.38370	0.628	B	0.37989	0.262	T	0.69935	-0.5010	10	0.72032	D	0.01	.	15.4943	0.75637	0.0:1.0:0.0:0.0	.	172	Q8NFZ4	NLGN2_HUMAN	C	172	ENSP00000305288:R172C	ENSP00000305288:R172C	R	+	1	0	NLGN2	7258392	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.772000	0.55325	2.521000	0.84997	0.455000	0.32223	CGT		0.627	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		6	6	0	0	0	1	0	6	6					T	7317668	C	T	7317668	3	4	435	1	0	0	0	0	1	0	0	0	10462	652	23	2	524	2	NLGN2	17	7317668	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29816	7317668	73877542	7161	28086											
NLGN2	57555	broad.mit.edu	37	chr17	7317763	7317763	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggctcagtcctggctgcCtatggcaacgtcattgtagc	7	11	12	11	1	2	0	2	0	0	0	3	1	3	0	2	3	3	4	2	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7317763C>A	ENST00000302926.2	+	3	682	c.609C>A	c.(607-609)gcC>gcA	p.A203A	NLGN2_ENST00000575301.1_Silent_p.A203A	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	203					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TCCTGGCTGCCTATGGCAACG	0.607																																						ENST00000302926.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22						c.(607-609)gcC>gcA		neuroligin 2							107	90	96					17																	7317763		2203	4300	6503	SO:0001819	synonymous_variant	57555				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	g.chr17:7317763C>A	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.609C>A	17.37:g.7317763C>A						NLGN2_ENST00000575301.1_Silent_p.A203A	p.A203A	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN			3	682	+		Prostate(122;0.157)	203					Q9P2I1	Silent	SNP	ENST00000302926.2	37	c.609C>A	CCDS11103.1																																																																																				0.607	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		22	34	1	0	4.26978e-12	1	4.60954e-12	22	34					A	7317763	C	A	7317763	2	1	435	1	0	0	0	0	0	0	0	1	10462	668	24	5		5	NLGN2	17	7317763	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	95	7317763	73877447	7162	28087											
SPEM1	374768	broad.mit.edu	37	chr17	7324875	7324875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcctctggatccagcactgCcgaggagacaagcaagaatt	13	6	11	11	1	1	2	0	0	1	2	2	5	2	3	3	2	4	2	3	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7324875C>T	ENST00000323675.3	+	3	906	c.881C>T	c.(880-882)gCc>gTc	p.A294V	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	294					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				TCCAGCACTGCCGAGGAGACA	0.582																																						ENST00000323675.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12						c.(880-882)gCc>gTc		spermatid maturation 1							31	35	34					17																	7324875		1950	4145	6095	SO:0001583	missense	374768				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		g.chr17:7324875C>T	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"chromosome 17 open reading frame 83"	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.881C>T	17.37:g.7324875C>T	ENSP00000315554:p.Ala294Val					RP11-104H15.7_ENST00000575310.1_RNA	p.A294V	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN			3	906	+		Prostate(122;0.173)	294						Missense_Mutation	SNP	ENST00000323675.3	37	c.881C>T	CCDS42254.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717821	0.48622	.	.	ENSG00000181323	ENST00000323675	.	.	.	5.65	4.67	0.58626	.	0.334270	0.21605	N	0.071882	T	0.50069	0.1594	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	D	0.71656	0.974	T	0.35450	-0.9788	9	0.56958	D	0.05	-13.0377	11.0084	0.47649	0.0:0.9114:0.0:0.0886	.	294	Q8N4L4	SPEM1_HUMAN	V	294	.	ENSP00000315554:A294V	A	+	2	0	SPEM1	7265599	0.001000	0.12720	0.126000	0.21872	0.006000	0.05464	0.766000	0.26560	2.648000	0.89879	0.655000	0.94253	GCC		0.582	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		5	6	0	0	0	1	0	5	6					T	7324875	C	T	7324875	3	4	435	1	0	0	0	0	1	0	0	0	15036	739	26	3	891	3	SPEM1	17	7324875	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7112	7324875	73870335	7163	28088											
C17orf74	201243	broad.mit.edu	37	chr17	7329619	7329619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatgtcccgacccacgcaGtactcctctttctcctgcca	8	10	6	17	2	2	1	0	0	2	1	5	2	4	1	5	0	2	2	5	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7329619G>T	ENST00000333870.3	+	3	383	c.309G>T	c.(307-309)caG>caT	p.Q103H	C17orf74_ENST00000574034.1_Intron|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	103						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GACCCACGCAGTACTCCTCTT	0.607																																						ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(307-309)caG>caT		chromosome 17 open reading frame 74							108	110	110					17																	7329619		2117	4232	6349	SO:0001583	missense	201243					integral to membrane		g.chr17:7329619G>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.309G>T	17.37:g.7329619G>T	ENSP00000328061:p.Gln103His					RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Intron	p.Q103H	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	383	+		Prostate(122;0.157)	103						Missense_Mutation	SNP	ENST00000333870.3	37	c.309G>T	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	G	2.226	-0.377336	0.05000	.	.	ENSG00000184560	ENST00000333870	T	0.32023	1.47	3.89	-1.03	0.10102	.	2.600110	0.01743	N	0.029512	T	0.24044	0.0582	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14952	-1.0454	10	0.15952	T	0.53	-12.5402	8.0593	0.30623	0.1594:0.2911:0.5494:0.0	.	103	Q0P670	CQ074_HUMAN	H	103	ENSP00000328061:Q103H	ENSP00000328061:Q103H	Q	+	3	2	C17orf74	7270343	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.098000	0.15189	0.054000	0.16065	-0.339000	0.08088	CAG		0.607	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		19	69	1	0	5.35356e-11	1	5.74024e-11	19	69					T	7329619	G	T	7329619	3	4	435	1	0	0	0	0	1	0	0	0	1879	1020	36	5	319	5	C17orf74	17	7329619	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4744	7329619	73865591	7164	28089											
C17orf74	201243	broad.mit.edu	37	chr17	7330138	7330138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatgtggaggctgagcagtgGgcctcgtctccaccacctcc	7	8	12	14	1	1	1	0	1	1	0	4	2	2	2	5	3	1	2	5	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7330138G>T	ENST00000333870.3	+	3	902	c.828G>T	c.(826-828)tgG>tgT	p.W276C	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	276						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CTGAGCAGTGGGCCTCGTCTC	0.652																																						ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(826-828)tgG>tgT		chromosome 17 open reading frame 74							38	42	40					17																	7330138		2101	4223	6324	SO:0001583	missense	201243					integral to membrane		g.chr17:7330138G>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.828G>T	17.37:g.7330138G>T	ENSP00000328061:p.Trp276Cys					RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	p.W276C	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	902	+		Prostate(122;0.157)	276						Missense_Mutation	SNP	ENST00000333870.3	37	c.828G>T	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	g	5.130	0.209623	0.09757	.	.	ENSG00000184560	ENST00000333870	T	0.32988	1.43	4.16	0.691	0.18045	.	1.082550	0.07184	N	0.854455	T	0.23611	0.0571	L	0.34521	1.04	0.33681	D	0.612065	B	0.21225	0.053	B	0.18263	0.021	T	0.27971	-1.0058	10	0.72032	D	0.01	-7.1372	6.8483	0.24000	0.0:0.172:0.4744:0.3536	.	276	Q0P670	CQ074_HUMAN	C	276	ENSP00000328061:W276C	ENSP00000328061:W276C	W	+	3	0	C17orf74	7270862	0.001000	0.12720	0.071000	0.20095	0.076000	0.17211	-0.060000	0.11712	0.065000	0.16485	-0.492000	0.04666	TGG		0.652	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		8	18	1	0	3.09899e-07	1	3.24337e-07	8	18					T	7330138	G	T	7330138	3	4	435	1	0	0	0	0	1	0	0	0	1879	1241	43	5	838	5	C17orf74	17	7330138	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	519	7330138	73865072	7165	28090											
C17orf74	201243	broad.mit.edu	37	chr17	7330459	7330459	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccccgtgaggtgcggcgTcgggcagctgactgggctga	5	6	18	12	4	0	3	0	3	0	0	1	4	0	3	2	4	2	3	2	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7330459T>G	ENST00000333870.3	+	3	1223	c.1149T>G	c.(1147-1149)cgT>cgG	p.R383R	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	383						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				AGGTGCGGCGTCGGGCAGCTG	0.677																																						ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(1147-1149)cgT>cgG		chromosome 17 open reading frame 74							36	44	42					17																	7330459		2116	4227	6343	SO:0001819	synonymous_variant	201243					integral to membrane		g.chr17:7330459T>G	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.1149T>G	17.37:g.7330459T>G						RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	p.R383R	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	1223	+		Prostate(122;0.157)	383						Silent	SNP	ENST00000333870.3	37	c.1149T>G	CCDS42255.1																																																																																				0.677	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		11	8	0	0	0	1	0	11	8					G	7330459	T	G	7330459	2	3	435	1	0	0	0	0	0	0	0	1	1879	1654	58	5		5	C17orf74	17	7330459	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	321	7330459	73864751	7166	28091											
FGF11	2256	broad.mit.edu	37	chr17	7346082	7346082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttaagaagaccaaggcagCtgcccactttctgcccaagc	12	7	9	13	0	1	2	0	0	1	2	1	2	1	2	3	1	4	3	3	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7346082C>A	ENST00000293829.4	+	4	1172	c.578C>A	c.(577-579)gCt>gAt	p.A193D	CHRNB1_ENST00000306071.2_5'Flank|FGF11_ENST00000575398.1_Missense_Mutation_p.A69D|RP11-104H15.10_ENST00000575331.1_RNA|FGF11_ENST00000575082.1_Missense_Mutation_p.A69D|FGF11_ENST00000572907.1_Missense_Mutation_p.A69D|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|CHRNB1_ENST00000576360.1_5'Flank|FGF11_ENST00000575235.1_Missense_Mutation_p.A69D|CHRNB1_ENST00000536404.2_5'Flank	NM_004112.2	NP_004103.1	Q92914	FGF11_HUMAN	fibroblast growth factor 11	193					cell-cell signaling (GO:0007267)|nervous system development (GO:0007399)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	growth factor activity (GO:0008083)			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				ACCAAGGCAGCTGCCCACTTT	0.572																																						ENST00000575331.1																			0				central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6						c.(205-207)gCt>gAt		fibroblast growth factor 11							97	106	103					17																	7346082		2203	4300	6503	SO:0001583	missense	2256				cell-cell signaling|nervous system development|signal transduction		growth factor activity	g.chr17:7346082C>A		CCDS11105.1	17p13.1	2008-07-18			ENSG00000161958	ENSG00000161958			3667	protein-coding gene	gene with protein product	"fibroblast growth factor homologous factor 3"	601514				8790420	Standard	NM_004112		Approved	FHF3, FLJ16061, MGC45269, MGC102953	uc002ggz.3	Q92914	OTTHUMG00000108136	ENST00000293829.4:c.578C>A	17.37:g.7346082C>A	ENSP00000293829:p.Ala193Asp					RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000293829.4_Missense_Mutation_p.A193D|FGF11_ENST00000572907.1_Missense_Mutation_p.A69D|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575235.1_Missense_Mutation_p.A69D|FGF11_ENST00000575082.1_Missense_Mutation_p.A69D|FGF11_ENST00000575398.1_Missense_Mutation_p.A69D	p.A69D			Q92914	FGF11_HUMAN			3	2350	+		Prostate(122;0.157)	193					Q2YDX8	Missense_Mutation	SNP	ENST00000293829.4	37	c.206C>A	CCDS11105.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760905	0.69763	.	.	ENSG00000161958	ENST00000293829	D	0.82433	-1.61	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.89733	0.6800	M	0.74546	2.27	0.48288	D	0.999623	D;D	0.58620	0.983;0.97	P;P	0.62491	0.903;0.863	D	0.89985	0.4103	10	0.59425	D	0.04	.	16.518	0.84306	0.0:1.0:0.0:0.0	.	134;193	B7Z1C3;Q92914	.;FGF11_HUMAN	D	193	ENSP00000293829:A193D	ENSP00000293829:A193D	A	+	2	0	FGF11	7286806	1.000000	0.71417	0.968000	0.41197	0.933000	0.57130	7.228000	0.78079	2.847000	0.97988	0.591000	0.81541	GCT		0.572	FGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226939.3	NM_004112		36	56	1	0	2.09667e-21	1	2.32829e-21	36	56					A	7346082	C	A	7346082	3	1	435	1	0	0	0	0	1	0	0	0	5840	797	28	5	592	5	FGF11	17	7346082	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15623	7346082	73849128	7167	28092											
CHRNB1	1140	broad.mit.edu	37	chr17	7351905	7351905	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctcatccccagagaatggCcagtgggagattatccacaa	12	8	10	11	0	1	2	1	0	0	2	3	4	3	2	4	2	1	1	4	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7351905C>T	ENST00000306071.2	+	7	685	c.618C>T	c.(616-618)ggC>ggT	p.G206G	RP11-104H15.10_ENST00000575331.1_RNA|CHRNB1_ENST00000576360.1_Silent_p.G134G|CHRNB1_ENST00000536404.2_Silent_p.G134G	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	206					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	CAGAGAATGGCCAGTGGGAGA	0.572																																						ENST00000306071.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23						c.(616-618)ggC>ggT		cholinergic receptor, nicotinic, beta 1 (muscle)							62	50	54					17																	7351905		2203	4300	6503	SO:0001819	synonymous_variant	1140				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	g.chr17:7351905C>T	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1961	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 1 (muscle)"	100710	"cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.618C>T	17.37:g.7351905C>T						CHRNB1_ENST00000536404.2_Silent_p.G134G|CHRNB1_ENST00000576360.1_Silent_p.G134G	p.G206G	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN			7	685	+		Prostate(122;0.157)	206					B7Z5H1|Q8IZ46|Q96FB8	Silent	SNP	ENST00000306071.2	37	c.618C>T	CCDS11106.1																																																																																				0.572	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			7	9	0	0	0	1	0	7	9					T	7351905	C	T	7351905	2	4	435	1	0	0	0	0	0	0	0	1	3390	726	26	3		3	CHRNB1	17	7351905	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5823	7351905	73843305	7168	28093											
CHRNB1	1140	broad.mit.edu	37	chr17	7359976	7359976	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actttcatcatcttcaccagCgttgggaccctagtcatctt	8	14	6	13	1	6	0	4	0	2	0	6	1	6	1	2	1	1	1	2	1	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7359976C>T	ENST00000306071.2	+	11	1507	c.1440C>T	c.(1438-1440)agC>agT	p.S480S	CHRNB1_ENST00000575379.1_Silent_p.S16S|CHRNB1_ENST00000576360.1_Silent_p.S359S|CHRNB1_ENST00000536404.2_Silent_p.S408S	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	480					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	TCTTCACCAGCGTTGGGACCC	0.577																																						ENST00000306071.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23						c.(1438-1440)agC>agT		cholinergic receptor, nicotinic, beta 1 (muscle)							194	148	163					17																	7359976		2203	4300	6503	SO:0001819	synonymous_variant	1140				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	g.chr17:7359976C>T	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1961	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 1 (muscle)"	100710	"cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.1440C>T	17.37:g.7359976C>T						CHRNB1_ENST00000536404.2_Silent_p.S408S|CHRNB1_ENST00000576360.1_Silent_p.S359S|CHRNB1_ENST00000575379.1_Silent_p.S16S	p.S480S	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN			11	1507	+		Prostate(122;0.157)	480					B7Z5H1|Q8IZ46|Q96FB8	Silent	SNP	ENST00000306071.2	37	c.1440C>T	CCDS11106.1																																																																																				0.577	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			29	34	0	0	0	1	0	29	34					T	7359976	C	T	7359976	2	4	435	1	0	0	0	0	0	0	0	1	3390	767	27	1		1	CHRNB1	17	7359976	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8071	7359976	73835234	7169	28094											
ZBTB4	57659	broad.mit.edu	37	chr17	7367125	7367125	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcactggcaaggaggccCgggctaatgccgtggaaggc	8	7	15	11	2	1	0	1	0	1	0	2	2	1	2	2	6	1	2	2	6	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7367125C>T	ENST00000311403.4	-	4	1515	c.1176G>A	c.(1174-1176)ccG>ccA	p.P392P	ZBTB4_ENST00000380599.4_Silent_p.P392P	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	392					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CAAGGAGGCCCGGGCTAATGC	0.577																																						ENST00000311403.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36						c.(1174-1176)ccG>ccA		zinc finger and BTB domain containing 4							106	112	110					17																	7367125		2203	4300	6503	SO:0001819	synonymous_variant	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7367125C>T	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1176G>A	17.37:g.7367125C>T						ZBTB4_ENST00000380599.4_Silent_p.P392P	p.P392P	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	1515	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	392					B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	ENST00000311403.4	37	c.1176G>A	CCDS11107.1																																																																																				0.577	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		33	39	0	0	0	1	0	33	39					T	7367125	C	T	7367125	2	4	435	1	0	0	0	0	0	0	0	1	17538	639	23	2		2	ZBTB4	17	7367125	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7149	7367125	73828085	7170	28095											
POLR2A	5430	broad.mit.edu	37	chr17	7404358	7404358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acatctcctacctagagatgGgtcatgacatcactcgcctc	10	10	7	14	1	3	2	2	1	1	1	6	3	3	2	3	1	1	0	3	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7404358G>A	ENST00000322644.6	+	12	2380	c.1981G>A	c.(1981-1983)Ggt>Agt	p.G661S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	661					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCTAGAGATGGGTCATGACAT	0.542																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(1981-1983)Ggt>Agt		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							216	176	190					17																	7404358		2203	4300	6503	SO:0001583	missense	5430				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	g.chr17:7404358G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.1981G>A	17.37:g.7404358G>A	ENSP00000314949:p.Gly661Ser						p.G661S	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			12	2380	+		Prostate(122;0.173)	661					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.1981G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312686	0.95655	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.73897	-0.79	6.06	6.06	0.98353	RNA polymerase Rpb1, domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	M	0.88906	2.99	0.80722	D	1	D	0.65815	0.995	D	0.66716	0.946	D	0.89605	0.3837	10	0.87932	D	0	-9.8259	19.3923	0.94587	0.0:0.0:1.0:0.0	.	661	P24928	RPB1_HUMAN	S	617;661	ENSP00000314949:G661S	ENSP00000314949:G661S	G	+	1	0	SLC35G6	7345082	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.164000	0.94755	2.882000	0.98803	0.655000	0.94253	GGT		0.542	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		20	28	0	0	0	1	0	20	28					A	7404358	G	A	7404358	3	1	435	1	0	0	0	0	1	0	0	0	12214	1232	43	3	2027	3	POLR2A	17	7404358	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	37233	7404358	73790852	7171	28096											
POLR2A	5430	broad.mit.edu	37	chr17	7415850	7415850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catgggtggaatctctcctgCcatgacaccttggaaccagg	9	9	11	12	0	1	1	0	1	1	0	3	3	2	3	4	4	2	0	4	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7415850C>T	ENST00000322644.6	+	27	4946	c.4547C>T	c.(4546-4548)gCc>gTc	p.A1516V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1516					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ATCTCTCCTGCCATGACACCT	0.572																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(4546-4548)gCc>gTc		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							58	53	55					17																	7415850		2203	4300	6503	SO:0001583	missense	5430				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	g.chr17:7415850C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4547C>T	17.37:g.7415850C>T	ENSP00000314949:p.Ala1516Val						p.A1516V	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			27	4946	+		Prostate(122;0.173)	1516					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.4547C>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153820	0.57259	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.71341	-0.56	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000001	T	0.58104	0.2099	L	0.35487	1.065	0.80722	D	1	B	0.25955	0.138	B	0.25987	0.065	T	0.53732	-0.8397	10	0.20046	T	0.44	-15.7911	12.8076	0.57622	0.0:0.8341:0.1659:0.0	.	1516	P24928	RPB1_HUMAN	V	1472;415;1516	ENSP00000314949:A1516V	ENSP00000314949:A1516V	A	+	2	0	SLC35G6	7356574	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.211000	0.65219	2.389000	0.81357	0.456000	0.33151	GCC		0.572	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		20	28	0	0	0	1	0	20	28					T	7415850	C	T	7415850	3	4	435	1	0	0	0	0	1	0	0	0	12214	739	26	3	4653	3	POLR2A	17	7415850	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11492	7415850	73779360	7172	28097											
POLR2A	5430	broad.mit.edu	37	chr17	7415883	7415883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaccagggtgcaacccctgCctatggcgcctggtccccca	7	6	11	17	1	0	0	0	0	0	0	1	1	1	0	7	3	4	1	7	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7415883C>T	ENST00000322644.6	+	27	4979	c.4580C>T	c.(4579-4581)gCc>gTc	p.A1527V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1527					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCAACCCCTGCCTATGGCGCC	0.582																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(4579-4581)gCc>gTc		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							48	46	47					17																	7415883		2203	4300	6503	SO:0001583	missense	5430				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	g.chr17:7415883C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4580C>T	17.37:g.7415883C>T	ENSP00000314949:p.Ala1527Val						p.A1527V	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			27	4979	+		Prostate(122;0.173)	1527					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.4580C>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959123	0.34565	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.70869	-0.52	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000002	T	0.57710	0.2072	N	0.21373	0.66	0.80722	D	1	B	0.20780	0.048	B	0.13407	0.009	T	0.55270	-0.8167	10	0.36615	T	0.2	-16.9883	16.0689	0.80909	0.0:1.0:0.0:0.0	.	1527	P24928	RPB1_HUMAN	V	1483;426;1527	ENSP00000314949:A1527V	ENSP00000314949:A1527V	A	+	2	0	SLC35G6	7356607	1.000000	0.71417	0.993000	0.49108	0.707000	0.40811	5.199000	0.65152	2.301000	0.77427	0.456000	0.33151	GCC		0.582	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		12	22	0	0	0	1	0	12	22					T	7415883	C	T	7415883	3	4	435	1	0	0	0	0	1	0	0	0	12214	739	26	3	4686	3	POLR2A	17	7415883	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33	7415883	73779327	7173	28098											
EIF4A1	1973	broad.mit.edu	37	chr17	7481551	7481551	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcccaccaacagggaaaaCtatatccacaggtaagcgta	15	7	7	12	1	0	0	0	0	0	0	2	1	2	1	3	2	3	2	3	2	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7481551C>T	ENST00000293831.8	+	10	1081	c.1065C>T	c.(1063-1065)aaC>aaT	p.N355N	CD68_ENST00000380498.6_5'Flank|EIF4A1_ENST00000577269.1_Silent_p.L335L|CD68_ENST00000250092.6_5'Flank|SNORD10_ENST00000459579.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Intron|SNORA67_ENST00000384423.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	355	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						ACAGGGAAAACTATATCCACA	0.498																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000293831.8																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(1063-1065)aaC>aaT		eukaryotic translation initiation factor 4A1							122	116	118					17																	7481551		2203	4300	6503	SO:0001819	synonymous_variant	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7481551C>T	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"DEAD-boxes"	3282	protein-coding gene	gene with protein product		602641	"eukaryotic translation initiation factor 4A, isoform 1"	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.1065C>T	17.37:g.7481551C>T						SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Intron|EIF4A1_ENST00000577269.1_Silent_p.L335L	p.N355N	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN			10	1081	+			355			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Silent	SNP	ENST00000293831.8	37	c.1065C>T	CCDS11113.1																																																																																				0.498	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		11	35	0	0	0	1	0	11	35					T	7481551	C	T	7481551	2	4	435	1	0	0	0	0	0	0	0	1	5024	564	20	3		3	EIF4A1	17	7481551	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	65668	7481551	73713659	7174	28099											
FXR2	9513	broad.mit.edu	37	chr17	7496151	7496151	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaggttctgaatcaacCgggggctctggttcagacgt	7	10	12	12	2	4	2	2	1	2	1	5	2	5	2	3	4	1	3	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7496151C>T	ENST00000250113.7	-	14	1924	c.1590G>A	c.(1588-1590)ccG>ccA	p.P530P	SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	530						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CTGAATCAACCGGGGGCTCTG	0.617																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1588-1590)ccG>ccA		fragile X mental retardation, autosomal homolog 2							31	32	31					17																	7496151		1831	4087	5918	SO:0001819	synonymous_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7496151C>T	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1590G>A	17.37:g.7496151C>T							p.P530P	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	14	1924	-			530					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	ENST00000250113.7	37	c.1590G>A	CCDS45604.1																																																																																				0.617	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			10	22	0	0	0	1	0	10	22					T	7496151	C	T	7496151	2	4	435	1	0	0	0	0	0	0	0	1	6116	639	23	2		2	FXR2	17	7496151	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14600	7496151	73699059	7175	28100											
FXR2	9513	broad.mit.edu	37	chr17	7499262	7499262	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgccagtcccatcaggtcCtctcgcactgtgaactcctc	7	11	7	16	1	2	1	1	1	1	0	7	1	5	1	4	1	2	1	4	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7499262C>A	ENST00000250113.7	-	8	1045	c.711G>T	c.(709-711)gaG>gaT	p.E237D		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	237	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CCATCAGGTCCTCTCGCACTG	0.537																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(709-711)gaG>gaT		fragile X mental retardation, autosomal homolog 2							141	137	138					17																	7499262		2042	4191	6233	SO:0001583	missense	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7499262C>A	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.711G>T	17.37:g.7499262C>A	ENSP00000250113:p.Glu237Asp						p.E237D	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	8	1045	-			237			KH 1.		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	c.711G>T	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702364	0.88924	.	.	ENSG00000129245	ENST00000250113	T	0.31510	1.49	5.46	4.48	0.54585	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.29256	0.0728	L	0.51422	1.61	0.54753	D	0.999982	B;B	0.21071	0.051;0.03	B;B	0.30401	0.115;0.065	T	0.09422	-1.0675	10	0.45353	T	0.12	.	8.8836	0.35389	0.0:0.8328:0.0:0.1672	.	237;237	Q86V09;P51116	.;FXR2_HUMAN	D	237	ENSP00000250113:E237D	ENSP00000250113:E237D	E	-	3	2	FXR2	7439987	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.020000	0.30027	2.719000	0.93026	0.555000	0.69702	GAG		0.537	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			56	75	1	0	2.01871e-26	1	2.25616e-26	56	75					A	7499262	C	A	7499262	3	1	435	1	0	0	0	0	1	0	0	0	6116	680	24	5	1250	5	FXR2	17	7499262	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3111	7499262	73695948	7176	28101											
SHBG	6462	broad.mit.edu	37	chr17	7535020	7535020	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatgtagaatcaaatccCgggatatttctccctccagg	10	12	9	10	1	2	2	1	1	1	1	5	3	4	3	3	2	0	1	3	2	4	3	rs548248396	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7535020C>A	ENST00000380450.4	+	5	700	c.669C>A	c.(667-669)ccC>ccA	p.P223P	SHBG_ENST00000576478.1_Silent_p.P111P|SHBG_ENST00000441599.2_Silent_p.P223P|SHBG_ENST00000416273.3_Silent_p.P223P|SHBG_ENST00000570547.1_Silent_p.P165P|SHBG_ENST00000572262.1_Silent_p.P111P|SHBG_ENST00000574539.1_Silent_p.P165P|SHBG_ENST00000575314.1_Silent_p.P165P|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000340624.5_Silent_p.P165P|SHBG_ENST00000576728.1_Silent_p.P111P|SHBG_ENST00000575903.1_Silent_p.P205P	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	223					primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	AATCAAATCCCGGGATATTTC	0.557																																						ENST00000380450.4																			2	Unknown(1)|Whole gene deletion(1)	p.0?(1)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|bone(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(667-669)ccC>ccA		sex hormone-binding globulin	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)						141	160	153					17																	7535020		2203	4300	6503	SO:0001819	synonymous_variant	6462				hormone transport	extracellular region	androgen binding|protein homodimerization activity	g.chr17:7535020C>A		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"androgen binding protein"	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.669C>A	17.37:g.7535020C>A						SHBG_ENST00000340624.5_Silent_p.P165P|SHBG_ENST00000575314.1_Silent_p.P165P|SHBG_ENST00000416273.3_Silent_p.P223P|SHBG_ENST00000570547.1_Silent_p.P165P|SHBG_ENST00000576478.1_Silent_p.P111P|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000574539.1_Silent_p.P165P|SHBG_ENST00000572262.1_Silent_p.P111P|SHBG_ENST00000441599.2_Silent_p.P223P|SHBG_ENST00000575903.1_Silent_p.P205P|SHBG_ENST00000576728.1_Silent_p.P111P	p.P223P	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN		READ - Rectum adenocarcinoma(115;0.168)	5	700	+		all_cancers(10;0.0867)	223					B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Silent	SNP	ENST00000380450.4	37	c.669C>A	CCDS11117.1																																																																																				0.557	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040		84	124	1	0	3.1376e-36	1	3.52241e-36	84	124					A	7535020	C	A	7535020	2	1	435	1	0	0	0	0	0	0	0	1	14269	639	23	5		5	SHBG	17	7535020	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	35758	7535020	73660190	7177	28102											
SHBG	6462	broad.mit.edu	37	chr17	7536652	7536652	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagagcccaggcaatggCactgacgcttcccattaaag	11	6	9	15	1	0	2	0	1	0	1	1	2	1	2	4	2	1	3	4	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7536652C>T	ENST00000380450.4	+	8	1222	c.1191C>T	c.(1189-1191)ggC>ggT	p.G397G	SHBG_ENST00000576478.1_Silent_p.G170G|SHBG_ENST00000441599.2_Silent_p.G282G|SHBG_ENST00000416273.3_3'UTR|SHBG_ENST00000570547.1_Silent_p.G224G|SHBG_ENST00000572262.1_Silent_p.G285G|SHBG_ENST00000574539.1_3'UTR|SHBG_ENST00000575314.1_Silent_p.G339G|SHBG_ENST00000572182.1_3'UTR|SHBG_ENST00000576728.1_3'UTR|SHBG_ENST00000575903.1_Silent_p.G379G	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	397					primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	CAGGCAATGGCACTGACGCTT	0.493																																						ENST00000380450.4																			2	Unknown(1)|Whole gene deletion(1)	p.0?(1)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|bone(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(1189-1191)ggC>ggT		sex hormone-binding globulin	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)						67	59	62					17																	7536652		2203	4300	6503	SO:0001819	synonymous_variant	6462				hormone transport	extracellular region	androgen binding|protein homodimerization activity	g.chr17:7536652C>T		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"androgen binding protein"	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.1191C>T	17.37:g.7536652C>T						SHBG_ENST00000575314.1_Silent_p.G339G|SHBG_ENST00000416273.3_3'UTR|SHBG_ENST00000570547.1_Silent_p.G224G|SHBG_ENST00000576478.1_Silent_p.G170G|SHBG_ENST00000572182.1_3'UTR|SHBG_ENST00000574539.1_3'UTR|SHBG_ENST00000572262.1_Silent_p.G285G|SHBG_ENST00000441599.2_Silent_p.G282G|SHBG_ENST00000575903.1_Silent_p.G379G|SHBG_ENST00000576728.1_3'UTR	p.G397G	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN		READ - Rectum adenocarcinoma(115;0.168)	8	1222	+		all_cancers(10;0.0867)	397					B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Silent	SNP	ENST00000380450.4	37	c.1191C>T	CCDS11117.1																																																																																				0.493	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040		6	13	0	0	0	1	0	6	13					T	7536652	C	T	7536652	2	4	435	1	0	0	0	0	0	0	0	1	14269	697	25	3		3	SHBG	17	7536652	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1632	7536652	73658558	7178	28103											
ATP1B2	482	broad.mit.edu	37	chr17	7559184	7559184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaagttcgccggccgcgtgGccttcaaactccgcatcaac	9	7	9	16	5	2	0	2	0	0	0	4	0	3	0	4	2	2	2	4	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7559184G>A	ENST00000250111.4	+	7	1251	c.844G>A	c.(844-846)Gcc>Acc	p.A282T		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	282	immunoglobulin-like.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CGGCCGCGTGGCCTTCAAACT	0.587																																						ENST00000250111.4																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|bone(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10						c.(844-846)Gcc>Acc		ATPase, Na+/K+ transporting, beta 2 polypeptide							65	58	60					17																	7559184		2203	4300	6503	SO:0001583	missense	482				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	g.chr17:7559184G>A	U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"ATPases / P-type"	805	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-2", "sodium pump subunit beta-2", "sodium-potassium ATPase subunit beta 2 (non-catalytic)"	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.844G>A	17.37:g.7559184G>A	ENSP00000250111:p.Ala282Thr						p.A282T	NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)	7	1251	+		all_cancers(10;0.000178)|Prostate(122;0.081)	282					A0AV17|A8K278|D3DTQ2|O60444	Missense_Mutation	SNP	ENST00000250111.4	37	c.844G>A	CCDS32550.1	.	.	.	.	.	.	.	.	.	.	G	4.340	0.062469	0.08388	.	.	ENSG00000129244	ENST00000250111	T	0.30182	1.54	4.67	3.68	0.42216	.	0.060946	0.64402	D	0.000003	T	0.15349	0.0370	N	0.12920	0.275	0.39447	D	0.967346	B	0.25772	0.134	B	0.24848	0.056	T	0.07065	-1.0792	10	0.08599	T	0.76	-9.4228	9.8607	0.41112	0.0:0.0:0.6271:0.3729	.	282	P14415	AT1B2_HUMAN	T	282	ENSP00000250111:A282T	ENSP00000250111:A282T	A	+	1	0	ATP1B2	7499909	1.000000	0.71417	1.000000	0.80357	0.212000	0.24457	4.285000	0.58989	1.161000	0.42604	0.313000	0.20887	GCC		0.587	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440234.1	NM_001678		7	15	0	0	0	1	0	7	15					A	7559184	G	A	7559184	3	1	435	1	0	0	0	0	1	0	0	0	1133	1203	42	3	870	3	ATP1B2	17	7559184	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22532	7559184	73636026	7179	28104											
TP53	7157	broad.mit.edu	37	chr17	7579442	7579442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctggtgcaggggccgccGgtgtaggagctgctggtgca	4	7	21	9	2	0	0	0	0	0	0	0	1	0	1	2	7	4	6	2	7	1	1	rs534447939		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7579442G>A	ENST00000269305.4	-	4	434	c.245C>T	c.(244-246)cCg>cTg	p.P82L	TP53_ENST00000359597.4_Missense_Mutation_p.P82L|TP53_ENST00000445888.2_Missense_Mutation_p.P82L|TP53_ENST00000455263.2_Missense_Mutation_p.P82L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.P82L|TP53_ENST00000420246.2_Missense_Mutation_p.P82L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	82	Interaction with HRMT1L2.|Interaction with WWOX.		P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.P82L(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.D48fs*55(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGGGCCGCCGGTGTAGGAGC	0.607		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		28	Substitution - Missense(8)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(4)	p.0?(8)|p.P82L(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.D48fs*55(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)	haematopoietic_and_lymphoid_tissue(9)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|salivary_gland(2)|lung(2)|breast(2)|large_intestine(1)|stomach(1)|prostate(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	GRCh37	CM961375	TP53	M		c.(244-246)cCg>cTg	Other conserved DNA damage response genes	tumor protein p53							57	64	62					17																	7579442		2200	4300	6500	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579442G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.245C>T	17.37:g.7579442G>A	ENSP00000269305:p.Pro82Leu	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)				TP53_ENST00000359597.4_Missense_Mutation_p.P82L|TP53_ENST00000455263.2_Missense_Mutation_p.P82L|TP53_ENST00000445888.2_Missense_Mutation_p.P82L|TP53_ENST00000413465.2_Missense_Mutation_p.P82L|TP53_ENST00000269305.4_Missense_Mutation_p.P82L	p.P82L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	377	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	82		P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).	Interaction with HRMT1L2.|Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.245C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	8.734	0.917469	0.17982	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99394	-5.31;-5.82;-5.52;-5.81;-5.81;-5.52;-4.17;-2.43	4.08	-0.428	0.12306	.	0.403584	0.23824	N	0.044214	D	0.94761	0.8309	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B;B;B	0.14805	0.0;0.011;0.01;0.0;0.003;0.001;0.001	B;B;B;B;B;B;B	0.16289	0.0;0.004;0.015;0.001;0.006;0.002;0.001	D	0.89917	0.4056	10	0.49607	T	0.09	-0.6252	0.7382	0.00969	0.308:0.1643:0.36:0.1676	.	43;82;82;82;82;82;82	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	82	ENSP00000410739:P82L;ENSP00000352610:P82L;ENSP00000269305:P82L;ENSP00000398846:P82L;ENSP00000391127:P82L;ENSP00000391478:P82L;ENSP00000424104:P82L;ENSP00000426252:P82L	ENSP00000269305:P82L	P	-	2	0	TP53	7520167	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.243000	0.08915	-0.024000	0.13941	-0.254000	0.11334	CCG		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		42	63	0	0	0	1	0	42	63					A	7579442	G	A	7579442	3	1	435	1	0	0	0	0	1	0	0	0	16378	1116	39	2	1057	2	TP53	17	7579442	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20258	7579442	73615768	7180	28105											
TP53	7157	broad.mit.edu	37	chr17	7579467	7579467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggagctgctggtgcaggggCcacggggggagcagcctctg	6	5	20	10	1	1	0	0	0	1	0	1	2	1	2	2	7	5	4	2	7	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7579467C>T	ENST00000269305.4	-	4	409	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	TP53_ENST00000359597.4_Missense_Mutation_p.A74T|TP53_ENST00000445888.2_Missense_Mutation_p.A74T|TP53_ENST00000455263.2_Missense_Mutation_p.A74T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.A74T|TP53_ENST00000420246.2_Missense_Mutation_p.A74T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	74	Interaction with HRMT1L2.|Interaction with WWOX.		A -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.D48fs*55(1)|p.A74fs*49(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.A74fs*71(1)|p.A74fs*47(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)	Acetylsalicylic acid(DB00945)	GGTGCAGGGGCCACGGGGGGA	0.607		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		21	Deletion - Frameshift(11)|Whole gene deletion(8)|Complex - frameshift(1)|Deletion - In frame(1)	p.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.D48fs*55(1)|p.A74fs*49(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.A74fs*71(1)|p.A74fs*47(1)	breast(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|prostate(1)|liver(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						c.(220-222)Gcc>Acc	Other conserved DNA damage response genes	tumor protein p53							77	85	83					17																	7579467		2202	4298	6500	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579467C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.220G>A	17.37:g.7579467C>T	ENSP00000269305:p.Ala74Thr	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)				TP53_ENST00000359597.4_Missense_Mutation_p.A74T|TP53_ENST00000455263.2_Missense_Mutation_p.A74T|TP53_ENST00000445888.2_Missense_Mutation_p.A74T|TP53_ENST00000413465.2_Missense_Mutation_p.A74T|TP53_ENST00000269305.4_Missense_Mutation_p.A74T	p.A74T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	352	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	74		A -> T (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.|Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.220G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	7.711	0.695216	0.15039	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99319	-5.22;-5.74;-5.47;-5.74;-5.74;-5.47;-4.13;-2.05	2.05	-0.0579	0.13799	.	1.817360	0.02244	N	0.066042	D	0.95828	0.8642	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;P	0.37781	0.421;0.011;0.016;0.403;0.001;0.004;0.608	B;B;B;B;B;B;B	0.32980	0.107;0.005;0.006;0.088;0.004;0.004;0.156	D	0.97001	0.9729	10	0.11485	T	0.65	.	5.9669	0.19330	0.0:0.6907:0.0:0.3093	.	35;74;74;74;74;74;74	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	74	ENSP00000410739:A74T;ENSP00000352610:A74T;ENSP00000269305:A74T;ENSP00000398846:A74T;ENSP00000391127:A74T;ENSP00000391478:A74T;ENSP00000424104:A74T;ENSP00000426252:A74T	ENSP00000269305:A74T	A	-	1	0	TP53	7520192	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.075000	0.14686	0.017000	0.15025	0.561000	0.74099	GCC		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		55	87	0	0	0	1	0	55	87					T	7579467	C	T	7579467	3	4	435	1	0	0	0	0	1	0	0	0	16378	739	26	3	1082	3	TP53	17	7579467	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25	7579467	73615743	7181	28106											
EFNB3	1949	broad.mit.edu	37	chr17	7611488	7611488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcccagacctggatctccGcttcaccatcaagttccagg	8	9	8	16	2	3	1	2	0	1	1	6	2	4	2	5	2	0	2	5	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7611488G>A	ENST00000226091.2	+	2	732	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	112	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CTGGATCTCCGCTTCACCATC	0.587																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(334-336)cGc>cAc		ephrin-B3							69	68	68					17																	7611488		2203	4300	6503	SO:0001583	missense	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7611488G>A	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"Ephrins"	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.335G>A	17.37:g.7611488G>A	ENSP00000226091:p.Arg112His						p.R112H	NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN			2	732	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	112					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Missense_Mutation	SNP	ENST00000226091.2	37	c.335G>A	CCDS11120.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.942539	0.73672	.	.	ENSG00000108947	ENST00000226091	D	0.94184	-3.37	4.68	4.68	0.58851	Ephrin, conserved site (1);Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.96228	0.8770	M	0.75615	2.305	0.41661	D	0.989188	D	0.89917	1.0	D	0.71414	0.973	D	0.96930	0.9680	10	0.87932	D	0	-17.0011	16.525	0.84328	0.0:0.0:1.0:0.0	.	112	Q15768	EFNB3_HUMAN	H	112	ENSP00000226091:R112H	ENSP00000226091:R112H	R	+	2	0	EFNB3	7552213	0.998000	0.40836	1.000000	0.80357	0.825000	0.46686	4.318000	0.59190	2.420000	0.82092	0.290000	0.19541	CGC		0.587	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		24	46	0	0	0	1	0	24	46					A	7611488	G	A	7611488	3	1	435	1	0	0	0	0	1	0	0	0	4957	1087	38	1	341	1	EFNB3	17	7611488	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32021	7611488	73583722	7182	28107											
DNAH2	146754	broad.mit.edu	37	chr17	7644157	7644157	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggacttatgacaagaaggcGgtggatctctacatgctgtt	10	11	12	8	2	1	2	0	1	1	1	2	4	1	4	0	4	2	2	0	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7644157G>A	ENST00000572933.1	+	11	2996	c.1536G>A	c.(1534-1536)gcG>gcA	p.A512A	DNAH2_ENST00000389173.2_Silent_p.A512A|DNAH2_ENST00000570791.1_Silent_p.A594A|DNAH2_ENST00000082259.3_Silent_p.A594A			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	512	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)				ACAAGAAGGCGGTGGATCTCT	0.582																																						ENST00000572933.1																			0				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						c.(1534-1536)gcG>gcA		dynein, axonemal, heavy chain 2							121	112	115					17																	7644157		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7644157G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1536G>A	17.37:g.7644157G>A						DNAH2_ENST00000082259.3_Silent_p.A594A|DNAH2_ENST00000570791.1_Silent_p.A594A|DNAH2_ENST00000389173.2_Silent_p.A512A	p.A512A			Q9P225	DYH2_HUMAN			11	2996	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	512			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.1536G>A	CCDS32551.1																																																																																				0.582	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		37	49	0	0	0	1	0	37	49					A	7644157	G	A	7644157	2	1	435	1	0	0	0	0	0	0	0	1	4602	1103	39	2		2	DNAH2	17	7644157	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32669	7644157	73551053	7183	28108											
DNAH2	146754	broad.mit.edu	37	chr17	7691263	7691263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtctacactgactacgCtgacctgggctggaagccct	8	9	12	12	1	1	2	0	2	1	0	1	4	1	3	2	3	3	2	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7691263C>T	ENST00000572933.1	+	43	8149	c.6689C>T	c.(6688-6690)gCt>gTt	p.A2230V	DNAH2_ENST00000389173.2_Missense_Mutation_p.A2230V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2230	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)				ACTGACTACGCTGACCTGGGC	0.552																																						ENST00000572933.1																			0				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						c.(6688-6690)gCt>gTt		dynein, axonemal, heavy chain 2							75	71	72					17																	7691263		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7691263C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6689C>T	17.37:g.7691263C>T	ENSP00000458355:p.Ala2230Val					DNAH2_ENST00000389173.2_Missense_Mutation_p.A2230V	p.A2230V			Q9P225	DYH2_HUMAN			43	8149	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2230			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6689C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	6.663	0.490881	0.12702	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.15952	2.38	5.07	1.37	0.22104	.	0.733708	0.12653	N	0.450292	T	0.06325	0.0163	N	0.03029	-0.43	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34625	-0.9821	10	0.36615	T	0.2	.	5.4381	0.16492	0.0:0.4759:0.2752:0.2489	.	2230	Q9P225	DYH2_HUMAN	V	2230	ENSP00000373825:A2230V	ENSP00000353818:A2230V	A	+	2	0	DNAH2	7631988	0.000000	0.05858	0.001000	0.08648	0.273000	0.26683	0.011000	0.13264	0.518000	0.28383	-0.459000	0.05422	GCT		0.552	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		19	20	0	0	0	1	0	19	20					T	7691263	C	T	7691263	3	4	435	1	0	0	0	0	1	0	0	0	4602	797	28	3	6855	3	DNAH2	17	7691263	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	47106	7691263	73503947	7184	28109											
DNAH2	146754	broad.mit.edu	37	chr17	7691458	7691458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctcatcaacaagatgctgGcctttaagaaggacaactgc	14	8	9	10	0	2	2	2	0	0	2	2	3	2	3	1	2	5	2	1	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7691458G>A	ENST00000572933.1	+	44	8256	c.6796G>A	c.(6796-6798)Gcc>Acc	p.A2266T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A2266T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2266	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)				CAAGATGCTGGCCTTTAAGAA	0.552																																						ENST00000572933.1																			0				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						c.(6796-6798)Gcc>Acc		dynein, axonemal, heavy chain 2							67	58	61					17																	7691458		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7691458G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6796G>A	17.37:g.7691458G>A	ENSP00000458355:p.Ala2266Thr					DNAH2_ENST00000389173.2_Missense_Mutation_p.A2266T	p.A2266T			Q9P225	DYH2_HUMAN			44	8256	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2266			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6796G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261588	0.23051	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.86694	-2.16	4.84	-5.95	0.02241	.	0.818451	0.10899	N	0.621820	T	0.73426	0.3585	N	0.19112	0.55	0.37228	D	0.905577	B	0.02656	0.0	B	0.04013	0.001	T	0.47032	-0.9148	10	0.17369	T	0.5	.	12.9358	0.58313	0.4295:0.0:0.5705:0.0	.	2266	Q9P225	DYH2_HUMAN	T	2266	ENSP00000373825:A2266T	ENSP00000353818:A2266T	A	+	1	0	DNAH2	7632183	0.007000	0.16637	0.013000	0.15412	0.678000	0.39670	0.057000	0.14279	-1.273000	0.02424	-0.367000	0.07326	GCC		0.552	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		6	17	0	0	0	1	0	6	17					A	7691458	G	A	7691458	3	1	435	1	0	0	0	0	1	0	0	0	4602	1203	42	3	6966	3	DNAH2	17	7691458	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	195	7691458	73503752	7185	28110											
DNAH2	146754	broad.mit.edu	37	chr17	7695266	7695266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacggcgagaactatgtcaCcatggtagagatgacatttg	12	10	12	7	2	1	4	1	2	0	2	1	6	1	4	1	2	1	1	1	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7695266C>T	ENST00000572933.1	+	45	8392	c.6932C>T	c.(6931-6933)aCc>aTc	p.T2311I	DNAH2_ENST00000389173.2_Missense_Mutation_p.T2311I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2311					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)				AACTATGTCACCATGGTAGAG	0.537																																						ENST00000572933.1																			0				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						c.(6931-6933)aCc>aTc		dynein, axonemal, heavy chain 2							206	186	193					17																	7695266		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7695266C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6932C>T	17.37:g.7695266C>T	ENSP00000458355:p.Thr2311Ile					DNAH2_ENST00000389173.2_Missense_Mutation_p.T2311I	p.T2311I			Q9P225	DYH2_HUMAN			45	8392	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2311					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6932C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	8.810	0.935062	0.18206	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.24151	1.87	4.84	1.68	0.24146	.	1.843660	0.02772	N	0.119787	T	0.16811	0.0404	N	0.13098	0.295	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.20405	-1.0276	10	0.39692	T	0.17	.	5.7814	0.18308	0.0:0.5253:0.301:0.1737	.	2311	Q9P225	DYH2_HUMAN	I	2311	ENSP00000373825:T2311I	ENSP00000353818:T2311I	T	+	2	0	DNAH2	7635991	0.000000	0.05858	0.009000	0.14445	0.064000	0.16182	-0.069000	0.11542	0.217000	0.20800	-0.311000	0.09066	ACC		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		44	83	0	0	0	1	0	44	83					T	7695266	C	T	7695266	3	4	435	1	0	0	0	0	1	0	0	0	4602	507	18	3	7106	3	DNAH2	17	7695266	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3808	7695266	73499944	7186	28111											
DNAH2	146754	broad.mit.edu	37	chr17	7734419	7734419	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctaggttgtcagcactggaGacttatttcatccccaagga	10	11	9	11	0	2	1	2	0	0	1	3	3	3	2	3	3	1	2	3	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7734419G>A	ENST00000572933.1	+	80	13706	c.12246G>A	c.(12244-12246)gaG>gaA	p.E4082E	DNAH2_ENST00000389173.2_Silent_p.E4082E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4082					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)				CAGCACTGGAGACTTATTTCA	0.532																																						ENST00000572933.1																			0				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						c.(12244-12246)gaG>gaA		dynein, axonemal, heavy chain 2							237	235	236					17																	7734419		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7734419G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12246G>A	17.37:g.7734419G>A						DNAH2_ENST00000389173.2_Silent_p.E4082E	p.E4082E			Q9P225	DYH2_HUMAN			80	13706	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4082					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.12246G>A	CCDS32551.1																																																																																				0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		124	151	0	0	0	1	0	124	151					A	7734419	G	A	7734419	2	1	435	1	0	0	0	0	0	0	0	1	4602	933	33	3		3	DNAH2	17	7734419	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	39153	7734419	73460791	7187	28112											
DNAH2	146754	broad.mit.edu	37	chr17	7736702	7736702	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcctttcccccaggcatgTactcctgcccctgctattac	5	13	5	18	0	1	0	0	0	1	0	4	0	3	0	6	1	4	3	6	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7736702T>C	ENST00000572933.1	+	86	14595	c.13135T>C	c.(13135-13137)Tac>Cac	p.Y4379H	DNAH2_ENST00000389173.2_Missense_Mutation_p.Y4379H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4379					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)				CCCAGGCATGTACTCCTGCCC	0.632																																						ENST00000572933.1																			0				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						c.(13135-13137)Tac>Cac		dynein, axonemal, heavy chain 2							80	84	83					17																	7736702		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7736702T>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.13135T>C	17.37:g.7736702T>C	ENSP00000458355:p.Tyr4379His					DNAH2_ENST00000389173.2_Missense_Mutation_p.Y4379H	p.Y4379H			Q9P225	DYH2_HUMAN			86	14595	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4379					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.13135T>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.188327	0.78789	.	.	ENSG00000183914	ENST00000389173	T	0.10860	2.83	3.96	3.96	0.45880	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.47432	0.1445	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65969	-0.6039	10	0.87932	D	0	.	12.2111	0.54379	0.0:0.0:0.0:1.0	.	4379	Q9P225	DYH2_HUMAN	H	4379	ENSP00000373825:Y4379H	ENSP00000373825:Y4379H	Y	+	1	0	DNAH2	7677427	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.106000	0.64597	1.801000	0.52704	0.454000	0.30748	TAC		0.632	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		40	52	0	0	0	1	0	40	52					C	7736702	T	C	7736702	3	2	435	1	0	0	0	0	1	0	0	0	4602	1638	57	4	13473	4	DNAH2	17	7736702	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	2283	7736702	73458508	7188	28113											
KDM6B	23135	broad.mit.edu	37	chr17	7748892	7748892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcatcgggcagtggaccCtccaggggcccgcgctgcac	6	5	15	15	3	0	0	0	0	0	0	2	2	1	1	3	4	2	4	3	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7748892C>T	ENST00000448097.2	+	4	351	c.20C>T	c.(19-21)cCt>cTt	p.P7L	KDM6B_ENST00000254846.5_Missense_Mutation_p.P7L			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	7					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCAGTGGACCCTCCAGGGGCC	0.637																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(19-21)cCt>cTt		lysine (K)-specific demethylase 6B							54	58	57					17																	7748892		2202	4300	6502	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7748892C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.20C>T	17.37:g.7748892C>T	ENSP00000412513:p.Pro7Leu					KDM6B_ENST00000448097.2_Missense_Mutation_p.P7L	p.P7L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			4	409	+			7					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.20C>T		.	.	.	.	.	.	.	.	.	.	C	15.66	2.900339	0.52227	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.30448	1.53;1.53	4.17	4.17	0.49024	.	0.134840	0.34338	N	0.004046	T	0.17874	0.0429	N	0.03608	-0.345	0.49483	D	0.999793	P	0.50528	0.936	P	0.50934	0.654	T	0.03630	-1.1018	10	0.15952	T	0.53	-6.3907	9.5601	0.39364	0.2098:0.7902:0.0:0.0	.	7	O15054-1	.	L	7	ENSP00000254846:P7L;ENSP00000412513:P7L	ENSP00000254846:P7L	P	+	2	0	KDM6B	7689617	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.580000	0.46068	2.340000	0.79590	0.542000	0.68232	CCT		0.637	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		31	60	0	0	0	1	0	31	60					T	7748892	C	T	7748892	3	4	435	1	0	0	0	0	1	0	0	0	8138	681	24	3	22	3	KDM6B	17	7748892	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12190	7748892	73446318	7189	28114											
CNTROB	116840	broad.mit.edu	37	chr17	7842903	7842903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgtcctgcaggaagagCgggatgcagctcgggctggg	6	7	19	9	2	0	1	0	0	0	1	2	3	1	3	1	4	4	5	1	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7842903C>T	ENST00000563694.1	+	8	1925	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	CNTROB_ENST00000565740.1_Missense_Mutation_p.R334W|CNTROB_ENST00000380255.3_Missense_Mutation_p.R334W|CNTROB_ENST00000380262.3_Missense_Mutation_p.R334W	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	334					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCAGGAAGAGCGGGATGCAGC	0.592																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(1000-1002)Cgg>Tgg		centrobin, centrosomal BRCA2 interacting protein							82	77	79					17																	7842903		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7842903C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1000C>T	17.37:g.7842903C>T	ENSP00000456335:p.Arg334Trp					CNTROB_ENST00000563694.1_Missense_Mutation_p.R334W|CNTROB_ENST00000565740.1_Missense_Mutation_p.R334W|CNTROB_ENST00000380255.3_Missense_Mutation_p.R334W	p.R334W	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			8	1925	+		Prostate(122;0.173)	334					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.1000C>T	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277488	0.59758	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.65732	-0.17;0.72	5.26	5.26	0.73747	.	0.141093	0.32952	N	0.005452	T	0.61800	0.2376	L	0.29908	0.895	0.39509	D	0.968331	D;B;B;D	0.76494	0.999;0.124;0.124;0.998	P;B;B;P	0.56916	0.809;0.027;0.027;0.809	T	0.65882	-0.6060	10	0.62326	D	0.03	-11.6849	9.9811	0.41813	0.0:0.9069:0.0:0.0931	.	334;334;334;334	Q8N137-4;Q8N137-3;Q8N137;Q8N137-2	.;.;CNTRB_HUMAN;.	W	334	ENSP00000369614:R334W;ENSP00000369605:R334W	ENSP00000369605:R334W	R	+	1	2	CNTROB	7783628	0.992000	0.36948	0.998000	0.56505	0.192000	0.23643	2.031000	0.41117	2.475000	0.83589	0.313000	0.20887	CGG		0.592	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		30	54	0	0	0	1	0	30	54					T	7842903	C	T	7842903	3	4	435	1	0	0	0	0	1	0	0	0	3651	759	27	1	1030	1	CNTROB	17	7842903	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	94011	7842903	73352307	7190	28115											
CNTROB	116840	broad.mit.edu	37	chr17	7842986	7842986	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagaagaagaacggcagacCtgggcccagcaagagcacca	15	2	12	12	1	0	5	0	0	0	5	0	5	0	5	3	2	3	3	3	2	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7842986C>A	ENST00000563694.1	+	8	2008	c.1083C>A	c.(1081-1083)acC>acA	p.T361T	CNTROB_ENST00000565740.1_Silent_p.T361T|CNTROB_ENST00000380255.3_Silent_p.T361T|CNTROB_ENST00000380262.3_Silent_p.T361T	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	361					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AACGGCAGACCTGGGCCCAGC	0.587																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(1081-1083)acC>acA		centrobin, centrosomal BRCA2 interacting protein							58	56	57					17																	7842986		2203	4300	6503	SO:0001819	synonymous_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7842986C>A	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1083C>A	17.37:g.7842986C>A						CNTROB_ENST00000563694.1_Silent_p.T361T|CNTROB_ENST00000565740.1_Silent_p.T361T|CNTROB_ENST00000380255.3_Silent_p.T361T	p.T361T	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			8	2008	+		Prostate(122;0.173)	361					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	c.1083C>A	CCDS11126.1																																																																																				0.587	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		21	21	1	0	1.15919e-05	1	1.19923e-05	21	21					A	7842986	C	A	7842986	2	1	435	1	0	0	0	0	0	0	0	1	3651	668	24	5		5	CNTROB	17	7842986	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	83	7842986	73352224	7191	28116											
CNTROB	116840	broad.mit.edu	37	chr17	7846781	7846781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagcagcgggtgacagagCggctggcgcaggctcaggag	8	4	20	9	3	1	2	1	1	0	1	1	4	1	4	0	6	3	4	0	6	0	0	rs370173403		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7846781C>T	ENST00000563694.1	+	10	2309	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	CNTROB_ENST00000565740.1_Missense_Mutation_p.R462W|CNTROB_ENST00000380255.3_Missense_Mutation_p.R462W|CNTROB_ENST00000380262.3_Missense_Mutation_p.R462W	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	462	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GGTGACAGAGCGGCTGGCGCA	0.627													C|||	1	0.000199681	8e-04	0	5008	,	,		17482	0		0	False		,,,				2504	0					ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(1384-1386)Cgg>Tgg		centrobin, centrosomal BRCA2 interacting protein		C	TRP/ARG,TRP/ARG	0,4398		0,0,2199	39	35	37		1384,1384	3.8	1	17		37	1,8593		0,1,4296	no	missense,missense	CNTROB	NM_001037144.5,NM_053051.3	101,101	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	462/926,462/904	7846781	1,12991	2199	4297	6496	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7846781C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1384C>T	17.37:g.7846781C>T	ENSP00000456335:p.Arg462Trp					CNTROB_ENST00000563694.1_Missense_Mutation_p.R462W|CNTROB_ENST00000565740.1_Missense_Mutation_p.R462W|CNTROB_ENST00000380255.3_Missense_Mutation_p.R462W	p.R462W	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			10	2309	+		Prostate(122;0.173)	462			Required for centrosome localization.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.1384C>T	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867668	0.72065	0.0	1.16E-4	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.45668	0.89;0.89	4.76	3.79	0.43588	.	0.150817	0.31221	N	0.008021	T	0.48259	0.1490	N	0.24115	0.695	0.33958	D	0.645315	D;D;D;D	0.89917	1.0;0.997;0.997;1.0	D;P;P;D	0.83275	0.995;0.742;0.742;0.996	T	0.62751	-0.6788	10	0.87932	D	0	-17.4605	11.4455	0.50120	0.3265:0.6735:0.0:0.0	.	462;462;462;462	Q8N137-4;Q8N137-3;Q8N137;Q8N137-2	.;.;CNTRB_HUMAN;.	W	462	ENSP00000369614:R462W;ENSP00000369605:R462W	ENSP00000369605:R462W	R	+	1	2	CNTROB	7787506	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	1.157000	0.31724	1.224000	0.43551	0.561000	0.74099	CGG		0.627	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		16	11	0	0	0	1	0	16	11					T	7846781	C	T	7846781	3	4	435	1	0	0	0	0	1	0	0	0	3651	759	27	1	1422	1	CNTROB	17	7846781	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3795	7846781	73348429	7192	28117											
GUCY2D	3000	broad.mit.edu	37	chr17	7907408	7907408	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgtccctctgaaggcagCgtgctggacagcctgcgcag	7	7	13	14	2	1	1	0	1	1	0	2	2	2	2	2	2	4	3	2	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7907408C>T	ENST00000254854.4	+	3	1110	c.960C>T	c.(958-960)agC>agT	p.S320S		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	320					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				CTGAAGGCAGCGTGCTGGACA	0.682																																						ENST00000254854.4																			0				skin(1)	1						c.(958-960)agC>agT		guanylate cyclase 2D, membrane (retina-specific)							35	39	38					17																	7907408		2203	4299	6502	SO:0001819	synonymous_variant	3000				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	g.chr17:7907408C>T	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.960C>T	17.37:g.7907408C>T							p.S320S	NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN			3	1110	+		Prostate(122;0.157)	320					Q6LEA7	Silent	SNP	ENST00000254854.4	37	c.960C>T	CCDS11127.1																																																																																				0.682	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			18	17	0	0	0	1	0	18	17					T	7907408	C	T	7907408	2	4	435	1	0	0	0	0	0	0	0	1	6897	767	27	1		1	GUCY2D	17	7907408	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	60627	7907408	73287802	7193	28118											
GUCY2D	3000	broad.mit.edu	37	chr17	7919139	7919139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacggtcaacaccgcctcgcGcatggagtccaccgggctgc	7	5	12	17	5	1	0	1	0	0	0	3	1	2	1	4	3	2	2	4	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7919139G>A	ENST00000254854.4	+	16	3173	c.3023G>A	c.(3022-3024)cGc>cAc	p.R1008H		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	1008	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				ACCGCCTCGCGCATGGAGTCC	0.697																																						ENST00000254854.4																			0				skin(1)	1						c.(3022-3024)cGc>cAc		guanylate cyclase 2D, membrane (retina-specific)							29	26	27					17																	7919139		2203	4299	6502	SO:0001583	missense	3000				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	g.chr17:7919139G>A	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.3023G>A	17.37:g.7919139G>A	ENSP00000254854:p.Arg1008His						p.R1008H	NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN			16	3173	+		Prostate(122;0.157)	1008			Guanylate cyclase.		Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	c.3023G>A	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293236	0.80914	.	.	ENSG00000132518	ENST00000254854	D	0.87179	-2.22	4.22	4.22	0.49857	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.47852	D	0.000209	D	0.91178	0.7221	M	0.92169	3.28	0.44289	D	0.997156	P	0.52316	0.952	P	0.45428	0.48	D	0.93717	0.7029	10	0.72032	D	0.01	.	15.8648	0.79057	0.0:0.0:1.0:0.0	.	1008	Q02846	GUC2D_HUMAN	H	1008	ENSP00000254854:R1008H	ENSP00000254854:R1008H	R	+	2	0	GUCY2D	7859864	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	7.593000	0.82686	2.346000	0.79739	0.313000	0.20887	CGC		0.697	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			11	9	0	0	0	1	0	11	9					A	7919139	G	A	7919139	3	1	435	1	0	0	0	0	1	0	0	0	6897	1087	38	1	3081	1	GUCY2D	17	7919139	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11731	7919139	73276071	7194	28119											
ALOX12B	242	broad.mit.edu	37	chr17	7984217	7984217	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttactcaggccggttggggTtgcgatgcctccgcaccgga	5	9	14	13	4	1	0	1	0	0	0	2	2	2	1	4	5	3	3	4	5	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7984217T>C	ENST00000319144.4	-	4	772	c.512A>G	c.(511-513)aAc>aGc	p.N171S	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	171	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CCGGTTGGGGTTGCGATGCCT	0.652										Multiple Myeloma(8;0.094)																												ENST00000319144.4																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(511-513)aAc>aGc		arachidonate 12-lipoxygenase, 12R type							71	71	71					17																	7984217		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7984217T>C	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.512A>G	17.37:g.7984217T>C	ENSP00000315167:p.Asn171Ser	Multiple Myeloma(8;0.094)				AC129492.6_ENST00000399413.3_3'UTR	p.N171S	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN			4	772	-			171			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.512A>G	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	T	8.052	0.766158	0.15983	.	.	ENSG00000179477	ENST00000319144	D	0.89810	-2.57	4.85	3.7	0.42460	Lipoxygenase, C-terminal (2);	0.198768	0.34603	N	0.003837	T	0.81795	0.4898	L	0.40543	1.245	0.23101	N	0.998296	B	0.20780	0.048	B	0.15052	0.012	T	0.68530	-0.5384	10	0.30854	T	0.27	-35.3195	8.9617	0.35851	0.0:0.0:0.1858:0.8142	.	171	O75342	LX12B_HUMAN	S	171	ENSP00000315167:N171S	ENSP00000315167:N171S	N	-	2	0	ALOX12B	7924942	1.000000	0.71417	0.989000	0.46669	0.073000	0.16967	2.309000	0.43699	1.956000	0.56807	0.454000	0.30748	AAC		0.652	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			22	34	0	0	0	1	0	22	34					C	7984217	T	C	7984217	3	2	435	1	0	0	0	0	1	0	0	0	537	1725	60	4	1641	4	ALOX12B	17	7984217	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	65078	7984217	73210993	7195	28120											
PER1	5187	broad.mit.edu	37	chr17	8049394	8049394	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagcgggctcagggtgccTcccaccactggctccttccg	4	7	13	17	3	1	0	1	0	0	0	4	1	4	0	5	3	2	2	5	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8049394T>C	ENST00000317276.4	-	17	2337	c.2100A>G	c.(2098-2100)ggA>ggG	p.G700G	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000354903.5_Silent_p.G684G|PER1_ENST00000581082.1_Silent_p.G680G	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	700	Required for phosphorylation by CSNK1E. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCAGGGTGCCTCCCACCACTG	0.647			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"AML, CMML"		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2098-2100)ggA>ggG	Other conserved DNA damage response genes	period circadian clock 1							54	49	51					17																	8049394		2203	4300	6503	SO:0001819	synonymous_variant	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8049394T>C	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2100A>G	17.37:g.8049394T>C						PER1_ENST00000578089.1_5'UTR|PER1_ENST00000354903.5_Silent_p.G684G|PER1_ENST00000581082.1_Silent_p.G680G	p.G700G	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			17	2337	-			700			CSNK1E binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	c.2100A>G	CCDS11131.1																																																																																				0.647	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			19	28	0	0	0	1	0	19	28					C	8049394	T	C	8049394	2	2	435	1	0	0	0	0	0	0	0	1	11729	1538	54	4		4	PER1	17	8049394	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	65177	8049394	73145816	7196	28121											
PER1	5187	broad.mit.edu	37	chr17	8050579	8050579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcactcactggcgcaggagGcccaggcccctctgcatcac	7	6	11	17	1	4	0	3	0	1	0	4	1	4	1	3	4	1	2	3	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8050579G>A	ENST00000317276.4	-	13	1855	c.1618C>T	c.(1618-1620)Cct>Tct	p.P540S	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000354903.5_Missense_Mutation_p.P524S|PER1_ENST00000581082.1_Missense_Mutation_p.P520S	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	540					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCGCAGGAGGCCCAGGCCCC	0.642			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"AML, CMML"		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1618-1620)Cct>Tct	Other conserved DNA damage response genes	period circadian clock 1							29	21	23					17																	8050579		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8050579G>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1618C>T	17.37:g.8050579G>A	ENSP00000314420:p.Pro540Ser					PER1_ENST00000354903.5_Missense_Mutation_p.P524S|PER1_ENST00000581082.1_Missense_Mutation_p.P520S	p.P540S	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			13	1855	-			540					B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.1618C>T	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.448011	0.43429	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.35048	2.72;1.33	4.43	4.43	0.53597	.	0.363922	0.26119	N	0.026224	T	0.50633	0.1627	L	0.46157	1.445	0.38780	D	0.954755	B;D	0.69078	0.11;0.997	B;D	0.75484	0.057;0.986	T	0.51490	-0.8699	10	0.46703	T	0.11	-12.0412	12.7243	0.57162	0.0:0.0:1.0:0.0	.	524;540	B4DI49;O15534	.;PER1_HUMAN	S	540;524	ENSP00000314420:P540S;ENSP00000346979:P524S	ENSP00000314420:P540S	P	-	1	0	PER1	7991304	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	4.551000	0.60740	2.461000	0.83175	0.551000	0.68910	CCT		0.642	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			3	5	0	0	0	1	0	3	5					A	8050579	G	A	8050579	3	1	435	1	0	0	0	0	1	0	0	0	11729	1203	42	3	2298	3	PER1	17	8050579	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1185	8050579	73144631	7197	28122											
PER1	5187	broad.mit.edu	37	chr17	8052891	8052891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcgggtaccccggaacaCgtcccgcttgcaacgcagca	10	4	12	15	5	0	0	0	0	0	0	1	2	1	1	3	2	6	5	3	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8052891C>T	ENST00000317276.4	-	6	979	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	PER1_ENST00000354903.5_Missense_Mutation_p.V232M|PER1_ENST00000581082.1_Missense_Mutation_p.V228M	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	248	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCCGGAACACGTCCCGCTTG	0.622			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"AML, CMML"		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(742-744)Gtg>Atg	Other conserved DNA damage response genes	period circadian clock 1							37	38	37					17																	8052891		2201	4297	6498	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8052891C>T	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.742G>A	17.37:g.8052891C>T	ENSP00000314420:p.Val248Met					PER1_ENST00000354903.5_Missense_Mutation_p.V232M|PER1_ENST00000581082.1_Missense_Mutation_p.V228M	p.V248M	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			6	979	-			248			PAS 1.		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.742G>A	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963744	0.53507	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.36520	2.6;1.25	5.55	4.58	0.56647	PAS (1);	0.529651	0.20549	N	0.090148	T	0.47655	0.1457	L	0.40543	1.245	0.30722	N	0.748162	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.76071	0.869;0.904;0.987	T	0.40289	-0.9571	10	0.35671	T	0.21	-15.1962	11.4266	0.50014	0.0:0.9135:0.0:0.0865	.	248;232;248	Q6IN51;B4DI49;O15534	.;.;PER1_HUMAN	M	248;232	ENSP00000314420:V248M;ENSP00000346979:V232M	ENSP00000314420:V248M	V	-	1	0	PER1	7993616	0.000000	0.05858	0.996000	0.52242	0.935000	0.57460	0.177000	0.16801	2.620000	0.88729	0.563000	0.77884	GTG		0.622	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			13	20	0	0	0	1	0	13	20					T	8052891	C	T	8052891	3	4	435	1	0	0	0	0	1	0	0	0	11729	536	19	1	3202	1	PER1	17	8052891	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2312	8052891	73142319	7198	28123											
PFAS	5198	broad.mit.edu	37	chr17	8158851	8158851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccgtcagctgaggtggaagCcattgctctggctaccctgc	6	9	12	14	1	2	1	1	1	1	0	2	2	2	2	3	3	5	3	3	3	2	2	rs539186803		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8158851C>T	ENST00000314666.6	+	5	549	c.416C>T	c.(415-417)gCc>gTc	p.A139V	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	139					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			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-Glutamine(DB00130)	GAGGTGGAAGCCATTGCTCTG	0.582																																						ENST00000314666.6																			0				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						c.(415-417)gCc>gTc		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						65	61	62					17																	8158851		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8158851C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.416C>T	17.37:g.8158851C>T	ENSP00000313490:p.Ala139Val					PFAS_ENST00000545834.1_Intron	p.A139V	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			5	549	+			139					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.416C>T	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220103	0.39201	.	.	ENSG00000178921	ENST00000314666	T	0.46451	0.87	5.66	5.66	0.87406	.	0.423650	0.28290	N	0.015894	T	0.39172	0.1068	L	0.42245	1.32	0.80722	D	1	B	0.15719	0.014	B	0.10450	0.005	T	0.09818	-1.0657	10	0.39692	T	0.17	-8.5796	17.2338	0.86992	0.0:1.0:0.0:0.0	.	139	O15067	PUR4_HUMAN	V	139	ENSP00000313490:A139V	ENSP00000313490:A139V	A	+	2	0	PFAS	8099576	0.965000	0.33210	0.524000	0.27887	0.285000	0.27093	2.361000	0.44160	2.681000	0.91329	0.462000	0.41574	GCC		0.582	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			8	24	0	0	0	1	0	8	24					T	8158851	C	T	8158851	3	4	435	1	0	0	0	0	1	0	0	0	11754	739	26	3	430	3	PFAS	17	8158851	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	105960	8158851	73036359	7199	28124											
PFAS	5198	broad.mit.edu	37	chr17	8167112	8167112	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttggggacccaaccctgaAtgccctggaaatctgggggg	8	7	15	11	0	1	1	0	1	1	0	1	3	1	3	3	6	2	1	3	6	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8167112A>T	ENST00000314666.6	+	15	1782	c.1649A>T	c.(1648-1650)aAt>aTt	p.N550I	PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Missense_Mutation_p.N126I	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	550					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			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-Glutamine(DB00130)	CCAACCCTGAATGCCCTGGAA	0.587																																						ENST00000314666.6																			0				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						c.(1648-1650)aAt>aTt		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						62	64	63					17																	8167112		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8167112A>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1649A>T	17.37:g.8167112A>T	ENSP00000313490:p.Asn550Ile					PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Missense_Mutation_p.N126I	p.N550I	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			15	1782	+			550					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.1649A>T	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600184	0.87055	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.32023	1.47;1.47	5.84	4.77	0.60923	AIR synthase-related protein, C-terminal (2);	0.054684	0.85682	D	0.000000	T	0.43853	0.1266	M	0.64404	1.975	0.43947	D	0.996615	D	0.54397	0.966	P	0.59546	0.859	T	0.43180	-0.9407	10	0.87932	D	0	-17.8128	6.5519	0.22438	0.8318:0.0:0.1682:0.0	.	550	O15067	PUR4_HUMAN	I	126;550	ENSP00000441706:N126I;ENSP00000313490:N550I	ENSP00000313490:N550I	N	+	2	0	PFAS	8107837	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.152000	0.58111	2.234000	0.73211	0.460000	0.39030	AAT		0.587	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			16	33	0	0	0	1	0	16	33					T	8167112	A	T	8167112	3	4	435	1	0	0	0	0	1	0	0	0	11754	101	4	5	1703	5	PFAS	17	8167112	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	8261	8167112	73028098	7200	28125											
RANGRF	29098	broad.mit.edu	37	chr17	8193159	8193159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaggtcatctcttggccccGaaaatctgtcacctgcaccc	9	9	7	16	1	4	0	2	0	2	0	5	1	4	0	4	2	1	1	4	2	2	1	rs552055941	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8193159G>A	ENST00000226105.6	+	5	758	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	RANGRF_ENST00000407006.4_3'UTR|SLC25A35_ENST00000580340.1_Intron|RANGRF_ENST00000580434.1_3'UTR|SLC25A35_ENST00000581320.1_5'Flank|SLC25A35_ENST00000396278.1_Intron|SLC25A35_ENST00000380067.2_Intron|SLC25A35_ENST00000579192.1_Intron|RANGRF_ENST00000439238.3_3'UTR	NM_016492.4	NP_057576.2	Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	156					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein localization to cell surface (GO:2000010)|protein exit from endoplasmic reticulum (GO:0032527)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization (GO:0003254)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	guanyl-nucleotide exchange factor activity (GO:0005085)|ion channel binding (GO:0044325)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)|sodium channel regulator activity (GO:0017080)			endometrium(1)	1						TCTTGGCCCCGAAAATCTGTC	0.537													G|||	2	0.000399361	0	0	5008	,	,		18434	0		0	False		,,,				2504	0.002					ENST00000226105.6																			0				endometrium(1)	1						c.(466-468)Gaa>Aaa		RAN guanine nucleotide release factor							108	105	106					17																	8193159		2203	4300	6503	SO:0001583	missense	29098				protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity	g.chr17:8193159G>A	AF151070	CCDS11137.1, CCDS54086.1, CCDS54087.1	17p13	2014-05-09				ENSG00000108961			17679	protein-coding gene	gene with protein product	"MOG1 homolog (S. cerevisiae)"	607954				11290418	Standard	NM_016492		Approved	MOG1, HSPC165, HSPC236, RANGNRF	uc002gkv.3	Q9HD47		ENST00000226105.6:c.466G>A	17.37:g.8193159G>A	ENSP00000226105:p.Glu156Lys					SLC25A35_ENST00000580340.1_Intron|SLC25A35_ENST00000396278.1_Intron|RANGRF_ENST00000439238.3_3'UTR|SLC25A35_ENST00000380067.2_Intron|RANGRF_ENST00000407006.4_3'UTR|RANGRF_ENST00000580434.1_3'UTR|SLC25A35_ENST00000579192.1_Intron	p.E156K	NM_016492.4	NP_057576.2	Q9HD47	MOG1_HUMAN			5	758	+			156					D3DTR6|Q68DI3|Q9BR68|Q9HD48|Q9NRU9|Q9P001|Q9P0P2	Missense_Mutation	SNP	ENST00000226105.6	37	c.466G>A	CCDS11137.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660703	0.29515	.	.	ENSG00000108961	ENST00000226105	T	0.76578	-1.03	5.61	3.46	0.39613	Mog1/PsbP, alpha/beta/alpha sandwich (1);Mog1/PsbP/DUF1795, alpha/beta/alpha sandwich (1);	0.385828	0.25820	N	0.028089	T	0.55862	0.1947	N	0.19112	0.55	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.48364	-0.9042	10	0.07644	T	0.81	-0.399	7.3064	0.26451	0.0913:0.1706:0.7381:0.0	.	156	Q9HD47	MOG1_HUMAN	K	156	ENSP00000226105:E156K	ENSP00000226105:E156K	E	+	1	0	RANGRF	8133884	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	2.254000	0.43214	2.633000	0.89246	0.511000	0.50034	GAA		0.537	RANGRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442127.1	NM_016492		36	64	0	0	0	1	0	36	64					A	8193159	G	A	8193159	3	1	435	1	0	0	0	0	1	0	0	0	13034	1059	37	2	572	2	RANGRF	17	8193159	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26047	8193159	73002051	7201	28126											
SLC25A35	399512	broad.mit.edu	37	chr17	8195891	8195891	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgaggctgcctgtgcctGcaggtgtgtcttcacctggg	3	13	14	11	0	3	1	1	1	2	0	3	1	3	1	3	3	3	2	3	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8195891G>A	ENST00000577745.1	-	2	901	c.391C>T	c.(391-393)Cag>Tag	p.Q131*	SLC25A35_ENST00000580340.1_Nonsense_Mutation_p.Q131*|SLC25A35_ENST00000396278.1_Nonsense_Mutation_p.Q131*|SLC25A35_ENST00000380067.2_Nonsense_Mutation_p.Q131*|SLC25A35_ENST00000579192.1_Nonsense_Mutation_p.Q131*			Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	131					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(2)|large_intestine(2)|lung(2)	6						GCCTGTGCCTGCAGGTGTGTC	0.527																																						ENST00000380067.2																			0				breast(2)|large_intestine(2)|lung(2)	6						c.(391-393)Cag>Tag		solute carrier family 25, member 35							191	174	179					17																	8195891		2203	4300	6503	SO:0001587	stop_gained	399512				transport	integral to membrane|mitochondrial inner membrane		g.chr17:8195891G>A	AY498866	CCDS11138.1	17p13.1	2013-05-22			ENSG00000125434	ENSG00000125434		"Solute carriers"	31921	protein-coding gene	gene with protein product		610818					Standard	NM_201520		Approved	FLJ40217	uc002gku.1	Q3KQZ1		ENST00000577745.1:c.391C>T	17.37:g.8195891G>A	ENSP00000464231:p.Gln131*					SLC25A35_ENST00000580340.1_Nonsense_Mutation_p.Q131*|SLC25A35_ENST00000396278.1_Nonsense_Mutation_p.Q131*|SLC25A35_ENST00000577745.1_Nonsense_Mutation_p.Q131*|SLC25A35_ENST00000579192.1_Nonsense_Mutation_p.Q131*	p.Q131*	NM_201520.1	NP_958928.1	Q3KQZ1	S2535_HUMAN			2	435	-			131					Q494X5|Q6RGS3|Q8N7Y5	Nonsense_Mutation	SNP	ENST00000577745.1	37	c.391C>T		.	.	.	.	.	.	.	.	.	.	G	14.93	2.681532	0.47991	.	.	ENSG00000125434	ENST00000380067;ENST00000396278	.	.	.	4.99	4.99	0.66335	.	0.128717	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.9762	13.7109	0.62667	0.0:0.0:1.0:0.0	.	.	.	.	X	131	.	ENSP00000369407:Q131X	Q	-	1	0	SLC25A35	8136616	1.000000	0.71417	0.986000	0.45419	0.200000	0.23975	8.423000	0.90264	2.610000	0.88304	0.551000	0.68910	CAG		0.527	SLC25A35-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442146.1	NM_201520		14	62	0	0	0	1	0	14	62					A	8195891	G	A	8195891	4	1	435	1	0	0	0	0	0	1	0	0	14499	1328	46	3	516	3	SLC25A35	17	8195891	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2732	8195891	72999319	7202	28127											
KRBA2	124751	broad.mit.edu	37	chr17	8273378	8273378	+	Missense_Mutation	SNP	G	G	A																															ttccttatgtacataataccGtattcgatcacgttctccat																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8273378G>A	ENST00000331336.2	-	2	558	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	KRBA2_ENST00000396267.1_Missense_Mutation_p.R103W|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	185					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.R185W(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						ACATAATACCGTATTCGATCA	0.448																																						ENST00000396267.1																			1	Substitution - Missense(1)	p.R185W(1)	large_intestine(1)	endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						c.(307-309)Cgg>Tgg		KRAB-A domain containing 2							197	178	185					17																	8273378		2203	4300	6503	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8273378G>A	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"-"	26989	protein-coding gene	gene with protein product			"KRAB A domain containing 2"			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.553C>T	17.37:g.8273378G>A	ENSP00000328017:p.Arg185Trp					RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000331336.2_Missense_Mutation_p.R185W	p.R103W			Q6ZNG9	KRBA2_HUMAN			2	1138	-			185			KRAB.		Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.307C>T	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	G	6.582	0.475632	0.12521	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.27104	1.69;1.74	2.42	-1.86	0.07760	.	.	.	.	.	T	0.15176	0.0366	L	0.40543	1.245	0.09310	N	1	P	0.46859	0.885	B	0.35039	0.194	T	0.13899	-1.0492	9	0.87932	D	0	.	6.1576	0.20346	0.589:0.0:0.411:0.0	.	185	Q6ZNG9	KRBA2_HUMAN	W	103;185	ENSP00000379565:R103W;ENSP00000328017:R185W	ENSP00000328017:R185W	R	-	1	2	KRBA2	8214103	0.000000	0.05858	0.044000	0.18714	0.599000	0.36880	-0.388000	0.07352	-0.436000	0.07254	-0.266000	0.10368	CGG		0.448	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		56	84	0	0	0	1	0	56	84					A	8273378	G	A	8273378	3	1	435	1	0	0	0	0	1	0	0	0	8440	1144	40	1	929	1	KRBA2	17	8273378	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	77487	8273378	72921832	7203	28128	130	2									
KRBA2	124751	broad.mit.edu	37	chr17	8273384	8273384	+	Nonsense_Mutation	SNP	G	G	A																															atgtacataataccgtattcGatcacgttctccatgagtag																								rs202118881	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8273384G>A	ENST00000331336.2	-	2	552	c.547C>T	c.(547-549)Cga>Tga	p.R183*	KRBA2_ENST00000396267.1_Nonsense_Mutation_p.R101*|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	183					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.R183*(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TACCGTATTCGATCACGTTCT	0.438													G|||	8	0.00159744	0	0	5008	,	,		20956	0.0079		0	False		,,,				2504	0					ENST00000396267.1																			1	Substitution - Nonsense(1)	p.R183*(1)	large_intestine(1)	endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						c.(301-303)Cga>Tga		KRAB-A domain containing 2							206	186	192					17																	8273384		2203	4300	6503	SO:0001587	stop_gained	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8273384G>A	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"-"	26989	protein-coding gene	gene with protein product			"KRAB A domain containing 2"			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.547C>T	17.37:g.8273384G>A	ENSP00000328017:p.Arg183*					RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000331336.2_Nonsense_Mutation_p.R183*	p.R101*			Q6ZNG9	KRBA2_HUMAN			2	1132	-			183			KRAB.		Q8IYY0	Nonsense_Mutation	SNP	ENST00000331336.2	37	c.301C>T	CCDS11141.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	12.75	2.031138	0.35797	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	.	.	.	2.42	1.44	0.22558	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	5.1214	0.14862	0.167:0.0:0.833:0.0	.	.	.	.	X	101;183	.	ENSP00000328017:R183X	R	-	1	2	KRBA2	8214109	0.000000	0.05858	0.012000	0.15200	0.581000	0.36288	-0.317000	0.08060	0.602000	0.29896	0.555000	0.69702	CGA		0.438	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		20	129	0	0	0	1	0	20	129					A	8273384	G	A	8273384	4	1	435	1	0	0	0	0	0	1	0	0	8440	1066	37	2	935	2	KRBA2	17	8273384	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6	8273384	72921826	7204	28129	130	2									
MYH10	4628	broad.mit.edu	37	chr17	8448825	8448825	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagatgctccctgacgttTggtcctatccagagctttat	9	13	9	10	1	0	3	0	1	0	2	3	4	3	3	3	1	2	3	3	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8448825T>C	ENST00000269243.4	-	12	1480	c.1342A>G	c.(1342-1344)Aaa>Gaa	p.K448E	MYH10_ENST00000379980.4_Missense_Mutation_p.K464E|MYH10_ENST00000360416.3_Missense_Mutation_p.K458E|RN7SL129P_ENST00000479993.2_RNA|MYH10_ENST00000396239.1_Missense_Mutation_p.K448E	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	448	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CCCTGACGTTTGGTCCTATCC	0.443																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(1372-1374)Aaa>Gaa		myosin, heavy chain 10, non-muscle							117	112	114					17																	8448825		2203	4300	6503	SO:0001583	missense	4628				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	g.chr17:8448825T>C	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1342A>G	17.37:g.8448825T>C	ENSP00000269243:p.Lys448Glu					MYH10_ENST00000379980.4_Missense_Mutation_p.K464E|MYH10_ENST00000269243.4_Missense_Mutation_p.K448E|MYH10_ENST00000396239.1_Missense_Mutation_p.K448E	p.K458E	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			13	1510	-			448			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.1372A>G	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	T	32	5.135391	0.94517	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;D;T	0.86865	-0.6;-0.6;-2.18;-0.6	5.0	5.0	0.66597	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.90215	0.6941	M	0.63843	1.955	0.80722	D	1	P;P;P	0.46020	0.871;0.844;0.871	P;P;P	0.53649	0.731;0.611;0.731	D	0.91430	0.5165	10	0.87932	D	0	.	15.1595	0.72771	0.0:0.0:0.0:1.0	.	457;458;448	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	E	448;458;448;464	ENSP00000269243:K448E;ENSP00000353590:K458E;ENSP00000379539:K448E;ENSP00000369315:K464E	ENSP00000269243:K448E	K	-	1	0	MYH10	8389550	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.778000	0.85637	2.216000	0.71823	0.533000	0.62120	AAA		0.443	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			22	39	0	0	0	1	0	22	39					C	8448825	T	C	8448825	3	2	435	1	0	0	0	0	1	0	0	0	10030	1821	63	4	4708	4	MYH10	17	8448825	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	175441	8448825	72746385	7205	28130											
CCDC42	146849	broad.mit.edu	37	chr17	8647479	8647479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggatggggactccgacGccccctcaacattggggagt	9	7	14	11	2	1	1	1	0	0	1	2	5	2	4	3	5	1	0	3	5	1	1	rs143164438		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8647479G>A	ENST00000293845.3	-	2	333	c.107C>T	c.(106-108)gCg>gTg	p.A36V	CCDC42_ENST00000539522.2_Missense_Mutation_p.A36V	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	36										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GGACTCCGACGCCCCCTCAAC	0.547																																						ENST00000293845.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(106-108)gCg>gTg		coiled-coil domain containing 42		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	112	96	102		107,107	3.3	0.1	17	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	CCDC42	NM_001158261.1,NM_144681.2	64,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	36/243,36/317	8647479	2,13004	2203	4300	6503	SO:0001583	missense	146849							g.chr17:8647479G>A	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.107C>T	17.37:g.8647479G>A	ENSP00000293845:p.Ala36Val					CCDC42_ENST00000539522.2_Missense_Mutation_p.A36V	p.A36V	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN			2	333	-			36					Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.107C>T	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	G	5.054	0.195598	0.09599	0.0	2.33E-4	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.24908	1.83;1.86	4.35	3.26	0.37387	.	0.473178	0.19958	N	0.102278	T	0.13970	0.0338	N	0.14661	0.345	0.09310	N	1	B	0.21688	0.059	B	0.13407	0.009	T	0.18967	-1.0320	10	0.33141	T	0.24	-16.7151	9.4924	0.38967	0.0:0.0:0.1798:0.8202	.	36	Q96M95	CCD42_HUMAN	V	36	ENSP00000293845:A36V;ENSP00000444359:A36V	ENSP00000293845:A36V	A	-	2	0	CCDC42	8588204	0.100000	0.21855	0.146000	0.22360	0.001000	0.01503	2.319000	0.43788	0.816000	0.34421	-0.280000	0.10049	GCG		0.547	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		19	44	0	0	0	1	0	19	44					A	8647479	G	A	8647479	3	1	435	1	0	0	0	0	1	0	0	0	2814	1087	38	1	867	1	CCDC42	17	8647479	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	198654	8647479	72547731	7206	28131											
PIK3R6	146850	broad.mit.edu	37	chr17	8732104	8732104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccctttgcgctgcagccCggctcgctccatctcagggc	3	8	11	19	3	1	0	1	0	1	0	4	0	2	0	4	2	3	4	4	2	0	1	rs531832284	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8732104C>T	ENST00000311434.9	-	11	1332	c.1093G>A	c.(1093-1095)Ggg>Agg	p.G365R	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	365					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CGCTGCAGCCCGGCTCGCTCC	0.677													C|||	4	0.000798722	0	0	5008	,	,		16377	0.004		0	False		,,,				2504	0					ENST00000311434.9																			0											c.(1093-1095)Ggg>Agg		phosphoinositide-3-kinase, regulatory subunit 6							14	16	15					17																	8732104		1929	4111	6040	SO:0001583	missense	146850				platelet activation	cytosol		g.chr17:8732104C>T	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1093G>A	17.37:g.8732104C>T	ENSP00000475670:p.Gly365Arg					PIK3R6_ENST00000434064.2_5'UTR	p.G365R	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			11	1332	-			365					Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37	c.1093G>A																																																																																					0.677	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		9	7	0	0	0	1	0	9	7					T	8732104	C	T	8732104	3	4	435	1	0	0	0	0	1	0	0	0	11923	652	23	2	1210	2	PIK3R6	17	8732104	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	84625	8732104	72463106	7207	28132											
PIK3R6	146850	broad.mit.edu	37	chr17	8742973	8742973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgggtgctgagctcccGgagcacagcctgcacgctcc	5	6	14	16	2	0	1	0	1	0	0	2	2	2	2	4	3	5	5	4	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8742973G>A	ENST00000311434.9	-	3	294	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	19					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CTGAGCTCCCGGAGCACAGCC	0.647																																						ENST00000311434.9																			0											c.(55-57)Cgg>Tgg		phosphoinositide-3-kinase, regulatory subunit 6							16	18	17					17																	8742973		1974	4154	6128	SO:0001583	missense	146850				platelet activation	cytosol		g.chr17:8742973G>A	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.55C>T	17.37:g.8742973G>A	ENSP00000475670:p.Arg19Trp					PIK3R6_ENST00000434064.2_5'UTR	p.R19W	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			3	294	-			19					Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37	c.55C>T																																																																																					0.647	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		4	2	0	0	0	1	0	4	2					A	8742973	G	A	8742973	3	1	435	1	0	0	0	0	1	0	0	0	11923	1115	39	2	2280	2	PIK3R6	17	8742973	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10869	8742973	72452237	7208	28133											
PIK3R5	23533	broad.mit.edu	37	chr17	8791557	8791557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagaccacaacacgtagcGtggaagccttgggatcctca	13	6	10	12	2	1	1	1	0	0	1	2	3	2	3	3	2	3	1	3	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8791557G>A	ENST00000447110.1	-	10	1671	c.1547C>T	c.(1546-1548)aCg>aTg	p.T516M	PIK3R5_ENST00000581552.1_Missense_Mutation_p.T516M|PIK3R5_ENST00000584803.1_Missense_Mutation_p.T516M	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	516					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AACACGTAGCGTGGAAGCCTT	0.622																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1546-1548)aCg>aTg		phosphoinositide-3-kinase, regulatory subunit 5							68	67	67					17																	8791557		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8791557G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1547C>T	17.37:g.8791557G>A	ENSP00000392812:p.Thr516Met					PIK3R5_ENST00000581552.1_Missense_Mutation_p.T516M|PIK3R5_ENST00000584803.1_Missense_Mutation_p.T516M	p.T516M	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			10	1671	-			516					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1547C>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010307	0.19277	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.83914	-1.78	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.86740	0.6005	L	0.34521	1.04	0.58432	D	0.999996	D	0.69078	0.997	D	0.65140	0.932	D	0.88147	0.2848	10	0.87932	D	0	-15.5853	18.941	0.92605	0.0:0.0:1.0:0.0	.	516	Q8WYR1	PI3R5_HUMAN	M	516	ENSP00000392812:T516M	ENSP00000269300:T516M	T	-	2	0	PIK3R5	8732282	1.000000	0.71417	0.949000	0.38748	0.104000	0.19210	5.074000	0.64401	2.568000	0.86640	0.650000	0.86243	ACG		0.622	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		38	47	0	0	0	1	0	38	47					A	8791557	G	A	8791557	3	1	435	1	0	0	0	0	1	0	0	0	11922	1145	40	1	1135	1	PIK3R5	17	8791557	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	48584	8791557	72403653	7209	28134											
PIK3R5	23533	broad.mit.edu	37	chr17	8792166	8792166	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcccaggatccctggcTggagtagctcctgttccttg	5	12	10	14	0	1	0	0	0	1	0	5	2	4	2	4	3	1	4	4	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8792166T>C	ENST00000447110.1	-	10	1062	c.938A>G	c.(937-939)cAg>cGg	p.Q313R	PIK3R5_ENST00000581552.1_Missense_Mutation_p.Q313R|PIK3R5_ENST00000584803.1_Missense_Mutation_p.Q313R	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	313				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GATCCCTGGCTGGAGTAGCTC	0.587																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(937-939)cAg>cGg		phosphoinositide-3-kinase, regulatory subunit 5							52	56	55					17																	8792166		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8792166T>C	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.938A>G	17.37:g.8792166T>C	ENSP00000392812:p.Gln313Arg					PIK3R5_ENST00000581552.1_Missense_Mutation_p.Q313R|PIK3R5_ENST00000584803.1_Missense_Mutation_p.Q313R	p.Q313R	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			10	1062	-			313	DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.938A>G	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.596393	0.28445	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.77229	-1.08	5.67	4.56	0.56223	.	0.360540	0.27595	N	0.018672	T	0.66684	0.2814	N	0.24115	0.695	0.23776	N	0.996879	B	0.24317	0.101	B	0.28916	0.096	T	0.60611	-0.7229	10	0.62326	D	0.03	-9.486	11.0704	0.47999	0.1392:0.0:0.0:0.8607	.	313	Q8WYR1	PI3R5_HUMAN	R	313	ENSP00000392812:Q313R	ENSP00000269300:Q313R	Q	-	2	0	PIK3R5	8732891	0.991000	0.36638	0.998000	0.56505	0.910000	0.53928	2.289000	0.43523	0.936000	0.37367	0.524000	0.50904	CAG		0.587	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		6	9	0	0	0	1	0	6	9					C	8792166	T	C	8792166	3	2	435	1	0	0	0	0	1	0	0	0	11922	1580	55	4	1744	4	PIK3R5	17	8792166	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	609	8792166	72403044	7210	28135											
STX8	9482	broad.mit.edu	37	chr17	9395227	9395227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaaagggcatcaaggcCtgcgtcctgttctgaaagaa	13	7	13	8	1	2	3	1	1	1	2	3	4	3	4	2	3	1	2	2	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:9395227C>T	ENST00000306357.4	-	6	887	c.460G>A	c.(460-462)Ggc>Agc	p.G154S	STX8_ENST00000574431.1_Missense_Mutation_p.G43S	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	154	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						GCATCAAGGCCTGCGTCCTGT	0.363																																						ENST00000306357.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						c.(460-462)Ggc>Agc		syntaxin 8							152	142	145					17																	9395227		2203	4300	6503	SO:0001583	missense	9482				transport	endoplasmic reticulum|integral to plasma membrane		g.chr17:9395227C>T	AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.460G>A	17.37:g.9395227C>T	ENSP00000305255:p.Gly154Ser					STX8_ENST00000574431.1_Missense_Mutation_p.G43S	p.G154S	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN			6	887	-			154			t-SNARE coiled-coil homology.		O60712|Q53XT8	Missense_Mutation	SNP	ENST00000306357.4	37	c.460G>A	CCDS32565.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867555	0.91587	.	.	ENSG00000170310	ENST00000306357	.	.	.	5.88	4.91	0.64330	Target SNARE coiled-coil domain (3);	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	L	0.49640	1.575	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71702	-0.4513	9	0.52906	T	0.07	-9.0885	14.1579	0.65428	0.0:0.9268:0.0:0.0732	.	154	Q9UNK0	STX8_HUMAN	S	154	.	ENSP00000305255:G154S	G	-	1	0	STX8	9335952	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	6.429000	0.73387	1.495000	0.48549	0.591000	0.81541	GGC		0.363	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3	NM_004853		21	77	0	0	0	1	0	21	77					T	9395227	C	T	9395227	3	4	435	1	0	0	0	0	1	0	0	0	15350	681	24	3	262	3	STX8	17	9395227	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	603061	9395227	71799983	7211	28136											
STX8	9482	broad.mit.edu	37	chr17	9471774	9471774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaatttgacaagtagaatCgtatgtggagaacctgcacc	13	9	11	8	1	0	3	0	1	0	2	1	4	0	3	2	2	2	4	2	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:9471774C>T	ENST00000306357.4	-	2	458	c.31G>A	c.(31-33)Gat>Aat	p.D11N	STX8_ENST00000573373.1_5'UTR|STX8_ENST00000574431.1_Intron	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	11					endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.D11N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						CAAGTAGAATCGTATGTGGAG	0.403																																						ENST00000306357.3																			1	Substitution - Missense(1)	p.D11N(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						c.(31-33)Gat>Aat		syntaxin 8							125	101	109					17																	9471774		2203	4300	6503	SO:0001583	missense	9482				transport	endoplasmic reticulum|integral to plasma membrane		g.chr17:9471774C>T	AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.31G>A	17.37:g.9471774C>T	ENSP00000305255:p.Asp11Asn					STX8_ENST00000573373.1_Missense_Mutation_p.D11N|STX8_ENST00000574431.1_Intron|STX8_ENST00000573077.3_5'UTR	p.D11N	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN			2	458	-			11					O60712|Q53XT8	Missense_Mutation	SNP	ENST00000306357.4	37	c.31G>A	CCDS32565.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831684	0.91036	.	.	ENSG00000170310	ENST00000306357	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.71581	2.175	0.52099	D	0.999948	D	0.69078	0.997	P	0.56088	0.791	T	0.73094	-0.4091	9	0.40728	T	0.16	0.7227	16.6943	0.85330	0.0:1.0:0.0:0.0	.	11	Q9UNK0	STX8_HUMAN	N	11	.	ENSP00000305255:D11N	D	-	1	0	STX8	9412499	0.995000	0.38212	0.965000	0.40720	0.975000	0.68041	4.039000	0.57325	2.680000	0.91292	0.655000	0.94253	GAT		0.403	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3	NM_004853		17	44	0	0	0	1	0	17	44					T	9471774	C	T	9471774	3	4	435	1	0	0	0	0	1	0	0	0	15350	884	31	2	707	2	STX8	17	9471774	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	76547	9471774	71723436	7212	28137											
WDR16	146845	broad.mit.edu	37	chr17	9489197	9489197	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atactaaagagcagaacttcCtacagggtcatggcaacaac	16	7	8	10	0	1	2	1	0	0	2	2	2	2	2	1	2	6	2	1	2	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:9489197C>T	ENST00000576499.1	+	2	192	c.178C>T	c.(178-180)Cta>Tta	p.L60L	WDR16_ENST00000299764.5_Silent_p.L70L|WDR16_ENST00000396219.3_Intron|WDR16_ENST00000352665.5_Silent_p.L60L					WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GCAGAACTTCCTACAGGGTCA	0.493																																						ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(178-180)Cta>Tta		WD repeat domain 16							204	181	189					17																	9489197		2203	4300	6503	SO:0001819	synonymous_variant	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9489197C>T	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	16053	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000576499.1:c.178C>T	17.37:g.9489197C>T						WDR16_ENST00000299764.5_Silent_p.L70L|WDR16_ENST00000396219.3_Intron	p.L60L	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			2	247	+			60						Silent	SNP	ENST00000576499.1	37	c.178C>T																																																																																					0.493	WDR16-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000439850.2	NM_145054		42	69	0	0	0	1	0	42	69					T	9489197	C	T	9489197	2	4	435	1	0	0	0	0	0	0	0	1	17273	680	24	3		3	WDR16	17	9489197	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17423	9489197	71706013	7213	28138											
GAS7	8522	broad.mit.edu	37	chr17	9820569	9820569	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atctccatgtccacagggcgGatgttgcccgtcttgtgctc	5	12	11	13	2	2	0	0	0	2	0	5	1	3	1	3	2	2	2	3	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:9820569G>A	ENST00000432992.2	-	14	1567	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	GAS7_ENST00000540214.1_Silent_p.I174I|GAS7_ENST00000542249.1_Silent_p.I405I|GAS7_ENST00000437099.2_Silent_p.I405I|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000585266.1_Silent_p.I409I|GAS7_ENST00000396115.2_Silent_p.I174I|GAS7_ENST00000580865.1_Silent_p.I329I|GAS7_ENST00000323816.4_Silent_p.I409I|GAS7_ENST00000579158.1_Silent_p.I405I	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	469					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CCACAGGGCGGATGTTGCCCG	0.637			T	MLL	AML*																																	ENST00000396115.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(1225-1227)atC>atT		growth arrest-specific 7							153	117	129					17																	9820569		2203	4300	6503	SO:0001819	synonymous_variant	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9820569G>A	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.1407C>T	17.37:g.9820569G>A						GAS7_ENST00000542249.1_Silent_p.I414I|GAS7_ENST00000437099.2_Silent_p.I405I|GAS7_ENST00000580865.1_Silent_p.I329I|GAS7_ENST00000579158.1_Silent_p.I421I|GAS7_ENST00000585266.1_Silent_p.I405I|GAS7_ENST00000432992.2_Silent_p.I469I|GAS7_ENST00000323816.4_Silent_p.I405I|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000540214.1_Silent_p.I174I	p.I409I	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN			14	1537	-			469					A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	ENST00000432992.2	37	c.1227C>T	CCDS11152.1																																																																																				0.637	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		15	50	0	0	0	1	0	15	50					A	9820569	G	A	9820569	2	1	435	1	0	0	0	0	0	0	0	1	6250	1164	41	3		3	GAS7	17	9820569	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	331372	9820569	71374641	7214	28139											
GAS7	8522	broad.mit.edu	37	chr17	9823007	9823007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttgtagagatccacacagCgcatgaggtcgtctcctgga	9	9	13	10	2	1	2	0	1	1	1	4	4	2	3	2	3	1	3	2	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:9823007C>T	ENST00000432992.2	-	12	1314	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	GAS7_ENST00000540214.1_Intron|GAS7_ENST00000542249.1_Missense_Mutation_p.R321H|GAS7_ENST00000437099.2_Missense_Mutation_p.R321H|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000585266.1_Missense_Mutation_p.R325H|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.R245H|GAS7_ENST00000323816.4_Missense_Mutation_p.R325H|GAS7_ENST00000579158.1_Missense_Mutation_p.R321H	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	385					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						ATCCACACAGCGCATGAGGTC	0.547			T	MLL	AML*																																	ENST00000396115.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(973-975)cGc>cAc		growth arrest-specific 7							213	184	194					17																	9823007		2203	4300	6503	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9823007C>T	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.1154G>A	17.37:g.9823007C>T	ENSP00000407552:p.Arg385His					GAS7_ENST00000542249.1_Missense_Mutation_p.R330H|GAS7_ENST00000437099.2_Missense_Mutation_p.R321H|GAS7_ENST00000580865.1_Missense_Mutation_p.R245H|GAS7_ENST00000579158.1_Missense_Mutation_p.R337H|GAS7_ENST00000585266.1_Missense_Mutation_p.R321H|GAS7_ENST00000432992.2_Missense_Mutation_p.R385H|GAS7_ENST00000323816.4_Missense_Mutation_p.R321H|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000540214.1_Intron	p.R325H	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN			12	1284	-			385					A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.974G>A	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805527	0.50315	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000542249;ENST00000541114	T;T	0.43688	0.94;0.98	4.91	3.92	0.45320	.	0.057731	0.64402	D	0.000001	T	0.21347	0.0514	N	0.14661	0.345	0.54753	D	0.999987	P;P;P;P	0.40250	0.709;0.653;0.591;0.653	B;B;B;B	0.29524	0.07;0.103;0.103;0.103	T	0.04333	-1.0959	9	.	.	.	-0.2767	13.4194	0.60987	0.1584:0.8416:0.0:0.0	.	337;325;245;385	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	H	385;325;324;245;325;34;199	ENSP00000322608:R385H;ENSP00000379421:R325H	.	R	-	2	0	GAS7	9763732	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.876000	0.69667	1.253000	0.44018	0.655000	0.94253	CGC		0.547	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		4	78	0	0	0	1	0	4	78					T	9823007	C	T	9823007	3	4	435	1	0	0	0	0	1	0	0	0	6250	768	27	1	288	1	GAS7	17	9823007	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2438	9823007	71372203	7215	28140											
GAS7	8522	broad.mit.edu	37	chr17	9830018	9830018	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcggcaatgtggtggtcGcacttcttcatgtctttctt	5	16	11	9	2	4	0	1	0	3	0	6	0	4	0	0	4	0	2	0	4	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:9830018G>A	ENST00000432992.2	-	10	1114	c.954C>T	c.(952-954)tgC>tgT	p.C318C	GAS7_ENST00000540214.1_Intron|GAS7_ENST00000542249.1_Silent_p.C254C|GAS7_ENST00000437099.2_Silent_p.C254C|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000585266.1_Silent_p.C258C|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000580865.1_Silent_p.C178C|GAS7_ENST00000323816.4_Silent_p.C258C|GAS7_ENST00000579158.1_Silent_p.C254C	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	318					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C178*(1)|p.C318*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGTGGTGGTCGCACTTCTTCA	0.592			T	MLL	AML*																																	ENST00000396115.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		2	Substitution - Nonsense(2)	p.C178*(1)|p.C318*(1)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(772-774)tgC>tgT		growth arrest-specific 7							93	87	89					17																	9830018		2203	4300	6503	SO:0001819	synonymous_variant	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9830018G>A	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.954C>T	17.37:g.9830018G>A						GAS7_ENST00000542249.1_Silent_p.C263C|GAS7_ENST00000437099.2_Silent_p.C254C|GAS7_ENST00000580865.1_Silent_p.C178C|GAS7_ENST00000579158.1_Silent_p.C270C|GAS7_ENST00000585266.1_Silent_p.C254C|GAS7_ENST00000432992.2_Silent_p.C318C|GAS7_ENST00000323816.4_Silent_p.C254C|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000540214.1_Intron	p.C258C	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN			10	1084	-			318			FCH.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	ENST00000432992.2	37	c.774C>T	CCDS11152.1																																																																																				0.592	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		18	22	0	0	0	1	0	18	22					A	9830018	G	A	9830018	2	1	435	1	0	0	0	0	0	0	0	1	6250	1079	38	1		1	GAS7	17	9830018	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7011	9830018	71365192	7216	28141											
MYH13	8735	broad.mit.edu	37	chr17	10231371	10231371	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgattttgaagaacaggtTcatccagggccagtgcttga	10	12	11	8	0	1	4	1	3	0	1	2	4	2	4	2	2	2	2	2	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10231371T>A	ENST00000418404.3	-	21	2666	c.2503A>T	c.(2503-2505)Aac>Tac	p.N835Y	MYH13_ENST00000252172.4_Missense_Mutation_p.N835Y|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	835					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			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						AAGAACAGGTTCATCCAGGGC	0.483											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418404.3																			0				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						c.(2503-2505)Aac>Tac		myosin, heavy chain 13, skeletal muscle							91	89	90					17																	10231371		2197	4300	6497	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10231371T>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2503A>T	17.37:g.10231371T>A	ENSP00000404570:p.Asn835Tyr		OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	663	MYH13_ENST00000570743.1_Missense_Mutation_p.N835Y|MYH13_ENST00000252172.4_Missense_Mutation_p.N835Y|RP11-401O9.3_ENST00000577743.1_RNA	p.N835Y			Q9UKX3	MYH13_HUMAN			21	2666	-			835					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.2503A>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.423616	0.62733	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	T	0.71461	-0.57	4.01	4.01	0.46588	.	.	.	.	.	T	0.66848	0.2831	L	0.40543	1.245	0.46437	D	0.99904	B	0.18013	0.025	B	0.34093	0.175	T	0.68496	-0.5393	9	0.87932	D	0	.	13.4056	0.60911	0.0:0.0:0.0:1.0	.	835	Q9UKX3	MYH13_HUMAN	Y	835;510	ENSP00000252172:N835Y	ENSP00000252172:N835Y	N	-	1	0	MYH13	10172096	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	1.815000	0.52974	0.460000	0.39030	AAC		0.483	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		24	37	0	0	0	1	0	24	37					A	10231371	T	A	10231371	3	1	435	1	0	0	0	0	1	0	0	0	10032	1783	62	5	3393	5	MYH13	17	10231371	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	401353	10231371	70963839	7217	28142											
MYH13	8735	broad.mit.edu	37	chr17	10235523	10235523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcagggatagcactggCattgaggatccggtacctaa	10	9	11	11	1	1	1	1	1	0	0	2	3	2	3	3	4	2	3	3	4	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10235523C>T	ENST00000418404.3	-	19	2354	c.2191G>A	c.(2191-2193)Gcc>Acc	p.A731T	MYH13_ENST00000252172.4_Missense_Mutation_p.A731T|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	731	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			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						ATAGCACTGGCATTGAGGATC	0.507																																						ENST00000418404.3																			0				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						c.(2191-2193)Gcc>Acc		myosin, heavy chain 13, skeletal muscle							160	162	161					17																	10235523		2060	4222	6282	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10235523C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2191G>A	17.37:g.10235523C>T	ENSP00000404570:p.Ala731Thr					MYH13_ENST00000570743.1_Missense_Mutation_p.A731T|MYH13_ENST00000252172.4_Missense_Mutation_p.A731T|RP11-401O9.3_ENST00000577743.1_RNA	p.A731T			Q9UKX3	MYH13_HUMAN			19	2354	-			731			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.2191G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044783	0.75732	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.87491	-2.26	4.35	3.37	0.38596	Myosin head, motor domain (2);	.	.	.	.	D	0.91492	0.7314	M	0.65677	2.01	0.39604	D	0.969774	D	0.63046	0.992	D	0.69142	0.962	D	0.92502	0.6009	9	0.87932	D	0	.	12.7687	0.57408	0.0:0.9196:0.0:0.0804	.	731	Q9UKX3	MYH13_HUMAN	T	731;406	ENSP00000252172:A731T	ENSP00000252172:A731T	A	-	1	0	MYH13	10176248	0.866000	0.29940	1.000000	0.80357	0.997000	0.91878	0.769000	0.26604	1.170000	0.42753	0.655000	0.94253	GCC		0.507	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		26	38	0	0	0	1	0	26	38					T	10235523	C	T	10235523	3	4	435	1	0	0	0	0	1	0	0	0	10032	710	25	3	3713	3	MYH13	17	10235523	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4152	10235523	70959687	7218	28143											
MYH8	4626	broad.mit.edu	37	chr17	10296236	10296236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgcaggtccttcaccGtctgctccaggttcttcttc	4	14	9	14	1	4	0	1	0	3	0	7	1	6	0	3	2	3	4	3	2	0	4	rs144962215		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10296236G>A	ENST00000403437.2	-	37	5469	c.5375C>T	c.(5374-5376)aCg>aTg	p.T1792M	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1792					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GTCCTTCACCGTCTGCTCCAG	0.557									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5374-5376)aCg>aTg		myosin, heavy chain 8, skeletal muscle, perinatal		G	MET/THR	0,4406		0,0,2203	130	129	129		5375	5.1	1	17	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH8	NM_002472.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1792/1938	10296236	1,13005	2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10296236G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5375C>T	17.37:g.10296236G>A	ENSP00000384330:p.Thr1792Met					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.T1792M	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			37	5469	-			1792					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5375C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684404	0.88639	0.0	1.16E-4	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.78246	-1.16	5.06	5.06	0.68205	Myosin tail (1);	0.000000	0.42964	U	0.000640	D	0.87196	0.6117	M	0.94101	3.495	0.54753	D	0.999989	P	0.36027	0.533	B	0.43123	0.409	D	0.89655	0.3872	10	0.72032	D	0.01	.	18.6259	0.91338	0.0:0.0:1.0:0.0	.	1792	P13535	MYH8_HUMAN	M	1792	ENSP00000384330:T1792M	ENSP00000252173:T1792M	T	-	2	0	MYH8	10236961	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.711000	0.84669	2.643000	0.89663	0.650000	0.86243	ACG		0.557	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		4	120	0	0	0	1	0	4	120					A	10296236	G	A	10296236	3	1	435	1	0	0	0	0	1	0	0	0	10041	1145	40	1	454	1	MYH8	17	10296236	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	60713	10296236	70898974	7219	28144											
MYH8	4626	broad.mit.edu	37	chr17	10300214	10300214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaacttcattctggagcCgctgcttcgtcttctcaagg	6	14	8	13	2	5	0	3	0	3	0	7	1	5	1	1	2	3	2	1	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10300214C>T	ENST00000403437.2	-	31	4362	c.4268G>A	c.(4267-4269)cGg>cAg	p.R1423Q	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1423					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTCTGGAGCCGCTGCTTCGT	0.488									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(4267-4269)cGg>cAg		myosin, heavy chain 8, skeletal muscle, perinatal							98	91	93					17																	10300214		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10300214C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4268G>A	17.37:g.10300214C>T	ENSP00000384330:p.Arg1423Gln					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.R1423Q	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			31	4362	-			1423					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4268G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024275	0.93462	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.83250	-1.7	5.15	5.15	0.70609	Myosin tail (1);	0.000000	0.39759	U	0.001266	D	0.93612	0.7960	M	0.93720	3.45	0.50171	D	0.999852	D	0.89917	1.0	D	0.97110	1.0	D	0.94709	0.7890	10	0.66056	D	0.02	.	18.8216	0.92099	0.0:1.0:0.0:0.0	.	1423	P13535	MYH8_HUMAN	Q	1423	ENSP00000384330:R1423Q	ENSP00000252173:R1423Q	R	-	2	0	MYH8	10240939	0.997000	0.39634	0.998000	0.56505	0.697000	0.40408	7.525000	0.81892	2.687000	0.91594	0.650000	0.86243	CGG		0.488	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		4	73	0	0	0	1	0	4	73					T	10300214	C	T	10300214	3	4	435	1	0	0	0	0	1	0	0	0	10041	652	23	2	1585	2	MYH8	17	10300214	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3978	10300214	70894996	7220	28145											
MYH8	4626	broad.mit.edu	37	chr17	10307651	10307651	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatggagtactcacagatTgaacctggagttgcaggtca	13	10	11	7	0	2	2	2	1	0	1	2	4	2	4	1	3	3	3	1	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10307651T>C	ENST00000403437.2	-	22	2778	c.2684A>G	c.(2683-2685)cAa>cGa	p.Q895R	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	895					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACTCACAGATTGAACCTGGAG	0.373									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2683-2685)cAa>cGa		myosin, heavy chain 8, skeletal muscle, perinatal							114	103	107					17																	10307651		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10307651T>C		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2684A>G	17.37:g.10307651T>C	ENSP00000384330:p.Gln895Arg					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.Q895R	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			22	2778	-			895					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2684A>G	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.548836	0.65311	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.93763	-3.28	5.31	5.31	0.75309	.	0.000000	0.40064	U	0.001184	D	0.95971	0.8688	M	0.93720	3.45	0.32555	N	0.531922	P	0.45957	0.869	P	0.49829	0.623	D	0.98808	1.0742	10	0.87932	D	0	.	11.4363	0.50070	0.0:0.0:0.1505:0.8495	.	895	P13535	MYH8_HUMAN	R	895	ENSP00000384330:Q895R	ENSP00000252173:Q895R	Q	-	2	0	MYH8	10248376	0.943000	0.32029	1.000000	0.80357	0.973000	0.67179	1.988000	0.40697	2.231000	0.72958	0.533000	0.62120	CAA		0.373	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		11	57	0	0	0	1	0	11	57					C	10307651	T	C	10307651	3	2	435	1	0	0	0	0	1	0	0	0	10041	1812	63	4	3205	4	MYH8	17	10307651	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	7437	10307651	70887559	7221	28146											
MYH2	4620	broad.mit.edu	37	chr17	10426684	10426684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacctttgacagcctcagCattacgcttttgctcactct	8	13	6	14	1	3	2	2	1	1	1	3	2	3	2	2	0	4	3	2	0	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10426684C>T	ENST00000245503.5	-	38	5902	c.5518G>A	c.(5518-5520)Gct>Act	p.A1840T	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A1840T|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1840					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACAGCCTCAGCATTACGCTTT	0.478																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(5518-5520)Gct>Act		myosin, heavy chain 2, skeletal muscle, adult							188	166	173					17																	10426684		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10426684C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5518G>A	17.37:g.10426684C>T	ENSP00000245503:p.Ala1840Thr					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.A1840T	p.A1840T	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			38	5902	-			1840					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5518G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850678	0.32699	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.78707	-1.2;-1.2	5.5	5.5	0.81552	Myosin tail (1);	0.428769	0.16597	U	0.207520	T	0.74397	0.3711	L	0.57130	1.785	0.09310	N	1	B	0.02656	0.0	B	0.13407	0.009	T	0.63888	-0.6535	10	0.46703	T	0.11	.	12.8447	0.57823	0.0:0.9263:0.0:0.0737	.	1840	Q9UKX2	MYH2_HUMAN	T	1840	ENSP00000245503:A1840T;ENSP00000380367:A1840T	ENSP00000245503:A1840T	A	-	1	0	MYH2	10367409	0.002000	0.14202	0.008000	0.14137	0.979000	0.70002	1.836000	0.39191	2.861000	0.98227	0.655000	0.94253	GCT		0.478	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		31	48	0	0	0	1	0	31	48					T	10426684	C	T	10426684	3	4	435	1	0	0	0	0	1	0	0	0	10035	710	25	3	319	3	MYH2	17	10426684	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	119033	10426684	70768526	7222	28147											
MYH2	4620	broad.mit.edu	37	chr17	10426938	10426938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatccgctccaggtgggCgctggtgtcctgctccttct	2	13	11	15	2	2	0	1	0	1	0	6	0	6	0	4	3	1	3	4	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10426938C>T	ENST00000245503.5	-	37	5731	c.5347G>A	c.(5347-5349)Gcc>Acc	p.A1783T	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A1783T|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1783					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.A1783T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCAGGTGGGCGCTGGTGTCC	0.512																																						ENST00000245503.5																			1	Substitution - Missense(1)	p.A1783T(1)	lung(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(5347-5349)Gcc>Acc		myosin, heavy chain 2, skeletal muscle, adult							109	110	109					17																	10426938		2203	4298	6501	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10426938C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5347G>A	17.37:g.10426938C>T	ENSP00000245503:p.Ala1783Thr					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.A1783T	p.A1783T	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			37	5731	-			1783					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5347G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612983	0.66672	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.80653	-1.4;-1.4	5.46	5.46	0.80206	Myosin tail (1);	0.000000	0.39020	U	0.001488	D	0.87501	0.6193	M	0.92604	3.325	0.54753	D	0.999986	B	0.25850	0.136	B	0.32583	0.148	D	0.86550	0.1834	10	0.62326	D	0.03	.	19.5721	0.95425	0.0:1.0:0.0:0.0	.	1783	Q9UKX2	MYH2_HUMAN	T	1783	ENSP00000245503:A1783T;ENSP00000380367:A1783T	ENSP00000245503:A1783T	A	-	1	0	MYH2	10367663	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.636000	0.61339	2.857000	0.98124	0.650000	0.86243	GCC		0.512	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		21	93	0	0	0	1	0	21	93					T	10426938	C	T	10426938	3	4	435	1	0	0	0	0	1	0	0	0	10035	768	27	1	494	1	MYH2	17	10426938	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	254	10426938	70768272	7223	28148											
MYH2	4620	broad.mit.edu	37	chr17	10432233	10432233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctggaactcagcctccCgcttcttgttcatctcaatc	6	16	5	14	1	5	0	3	0	3	0	8	1	6	1	2	1	2	2	2	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10432233C>T	ENST00000245503.5	-	27	3902	c.3518G>A	c.(3517-3519)cGg>cAg	p.R1173Q	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1173Q|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1173					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1173L(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCAGCCTCCCGCTTCTTGTT	0.597																																						ENST00000245503.5																			2	Substitution - Missense(2)	p.R1173L(2)	lung(2)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3517-3519)cGg>cAg		myosin, heavy chain 2, skeletal muscle, adult							71	79	76					17																	10432233		2203	4297	6500	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432233C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3518G>A	17.37:g.10432233C>T	ENSP00000245503:p.Arg1173Gln					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1173Q	p.R1173Q	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			27	3902	-			1173					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3518G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142654	0.94560	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85013	-1.93;-1.93	5.18	5.18	0.71444	Myosin tail (1);	0.000000	0.36519	U	0.002548	D	0.94006	0.8080	M	0.90977	3.165	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	D	0.93750	0.7058	10	0.42905	T	0.14	.	18.8905	0.92399	0.0:1.0:0.0:0.0	.	1173	Q9UKX2	MYH2_HUMAN	Q	1173	ENSP00000245503:R1173Q;ENSP00000380367:R1173Q	ENSP00000245503:R1173Q	R	-	2	0	MYH2	10372958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.350000	0.79385	2.707000	0.92482	0.655000	0.94253	CGG		0.597	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		39	82	0	0	0	1	0	39	82					T	10432233	C	T	10432233	3	4	435	1	0	0	0	0	1	0	0	0	10035	652	23	2	2363	2	MYH2	17	10432233	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5295	10432233	70762977	7224	28149											
MYH2	4620	broad.mit.edu	37	chr17	10438444	10438444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaatcctttcctacagatgCggatgccttccagcacaccg	10	9	8	14	2	0	1	0	0	0	1	3	3	3	2	5	1	4	1	5	1	2	3	rs369618095		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10438444C>T	ENST00000245503.5	-	19	2510	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R709H|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	709	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTACAGATGCGGATGCCTTC	0.433																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(2125-2127)cGc>cAc		myosin, heavy chain 2, skeletal muscle, adult		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	87	83	84		2126,2126	5.1	1	17		84	0,8600		0,0,4300	no	missense,missense	MYH2	NM_001100112.1,NM_017534.5	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	709/1942,709/1942	10438444	1,13005	2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10438444C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2126G>A	17.37:g.10438444C>T	ENSP00000245503:p.Arg709His					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R709H	p.R709H	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			19	2510	-			709			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2126G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442356	0.96187	2.27E-4	0.0	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.78003	-1.14;-1.14	5.1	5.1	0.69264	Myosin head, motor domain (2);	0.000000	0.35772	U	0.002994	D	0.92792	0.7708	H	0.98178	4.165	0.58432	D	0.999999	D	0.76494	0.999	D	0.72338	0.977	D	0.95271	0.8377	10	0.87932	D	0	.	18.6948	0.91596	0.0:1.0:0.0:0.0	.	709	Q9UKX2	MYH2_HUMAN	H	709	ENSP00000245503:R709H;ENSP00000380367:R709H	ENSP00000245503:R709H	R	-	2	0	MYH2	10379169	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.638000	0.83328	2.651000	0.90000	0.591000	0.81541	CGC		0.433	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		18	52	0	0	0	1	0	18	52					T	10438444	C	T	10438444	3	4	435	1	0	0	0	0	1	0	0	0	10035	768	27	1	3787	1	MYH2	17	10438444	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6211	10438444	70756766	7225	28150											
MYH3	4621	broad.mit.edu	37	chr17	10539137	10539137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaaagttgggatactatgCtttctttttcttccagctga	8	17	9	7	0	2	1	0	1	2	0	3	3	3	3	1	2	3	3	1	2	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10539137C>T	ENST00000583535.1	-	29	3977	c.3890G>A	c.(3889-3891)aGc>aAc	p.S1297N	MYH3_ENST00000226209.7_Missense_Mutation_p.S1297N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1297					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			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						GGATACTATGCTTTCTTTTTC	0.433																																						ENST00000583535.1																			0				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						c.(3889-3891)aGc>aAc		myosin, heavy chain 3, skeletal muscle, embryonic							184	181	182					17																	10539137		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10539137C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3890G>A	17.37:g.10539137C>T	ENSP00000464317:p.Ser1297Asn					MYH3_ENST00000226209.7_Missense_Mutation_p.S1297N	p.S1297N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			29	3977	-			1297					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.3890G>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693764	0.48202	.	.	ENSG00000109063	ENST00000226209	D	0.83335	-1.71	5.13	5.13	0.70059	Myosin tail (1);	.	.	.	.	D	0.85044	0.5607	M	0.81112	2.525	0.23806	N	0.996795	B	0.18166	0.026	B	0.27715	0.082	T	0.76225	-0.3037	9	0.49607	T	0.09	.	14.7739	0.69703	0.0:0.7398:0.2602:0.0	.	1297	P11055	MYH3_HUMAN	N	1297	ENSP00000226209:S1297N	ENSP00000226209:S1297N	S	-	2	0	MYH3	10479862	0.701000	0.27806	1.000000	0.80357	0.933000	0.57130	4.636000	0.61339	2.813000	0.96785	0.655000	0.94253	AGC		0.433	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		59	100	0	0	0	1	0	59	100					T	10539137	C	T	10539137	3	4	435	1	0	0	0	0	1	0	0	0	10036	797	28	3	1984	3	MYH3	17	10539137	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	100693	10539137	70656073	7226	28151											
DNAH9	1770	broad.mit.edu	37	chr17	11554426	11554426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgagctatcttgaacccaGagagatgaaacacatgcctg	15	8	9	9	0	1	5	0	3	1	2	1	6	1	5	2	0	4	1	2	0	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:11554426G>A	ENST00000262442.4	+	13	2206	c.2138G>A	c.(2137-2139)aGa>aAa	p.R713K	DNAH9_ENST00000454412.2_Missense_Mutation_p.R713K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	713	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			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)		CTTGAACCCAGAGAGATGAAA	0.438																																						ENST00000262442.3																			0				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						c.(2137-2139)aGa>aAa		dynein, axonemal, heavy chain 9							126	125	125					17																	11554426		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11554426G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2138G>A	17.37:g.11554426G>A	ENSP00000262442:p.Arg713Lys					DNAH9_ENST00000454412.2_Missense_Mutation_p.R713K	p.R713K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	13	2206	+		Breast(5;0.0122)|all_epithelial(5;0.131)	713			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2138G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	6.416	0.444860	0.12164	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.55234	0.53;0.53	5.53	-0.421	0.12332	Dynein heavy chain, domain-1 (1);	1.943060	0.01822	N	0.034129	T	0.44159	0.1280	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.29822	-0.9999	10	0.62326	D	0.03	.	1.5674	0.02608	0.2775:0.2336:0.3692:0.1196	.	713	Q9NYC9	DYH9_HUMAN	K	713	ENSP00000262442:R713K;ENSP00000414874:R713K	ENSP00000262442:R713K	R	+	2	0	DNAH9	11495151	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	0.462000	0.21956	0.028000	0.15324	0.655000	0.94253	AGA		0.438	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		45	57	0	0	0	1	0	45	57					A	11554426	G	A	11554426	3	1	435	1	0	0	0	0	1	0	0	0	4608	942	33	3	2188	3	DNAH9	17	11554426	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1015289	11554426	69640784	7227	28152											
DNAH9	1770	broad.mit.edu	37	chr17	11593032	11593032	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggcagtgcaggaaggAggtctgccagctgaaggagc	10	5	18	8	0	1	2	0	2	1	0	1	5	1	5	1	5	4	4	1	5	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:11593032A>T	ENST00000262442.4	+	20	3961	c.3893A>T	c.(3892-3894)gAg>gTg	p.E1298V	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1298V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1298	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			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)		TGCAGGAAGGAGGTCTGCCAG	0.532																																						ENST00000262442.3																			0				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						c.(3892-3894)gAg>gTg		dynein, axonemal, heavy chain 9							95	88	91					17																	11593032		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11593032A>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3893A>T	17.37:g.11593032A>T	ENSP00000262442:p.Glu1298Val					DNAH9_ENST00000454412.2_Missense_Mutation_p.E1298V	p.E1298V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	20	3961	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1298			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3893A>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.545604	0.65198	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.65916	-0.18;-0.18	5.6	5.6	0.85130	Dynein heavy chain, domain-2 (1);	0.140193	0.46442	D	0.000285	D	0.85239	0.5651	H	0.96015	3.755	0.80722	D	1	D	0.63046	0.992	D	0.68943	0.961	D	0.90070	0.4162	10	0.87932	D	0	.	15.7992	0.78439	1.0:0.0:0.0:0.0	.	1298	Q9NYC9	DYH9_HUMAN	V	1298	ENSP00000262442:E1298V;ENSP00000414874:E1298V	ENSP00000262442:E1298V	E	+	2	0	DNAH9	11533757	1.000000	0.71417	0.960000	0.40013	0.392000	0.30506	5.814000	0.69208	2.143000	0.66587	0.460000	0.39030	GAG		0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		32	51	0	0	0	1	0	32	51					T	11593032	A	T	11593032	3	4	435	1	0	0	0	0	1	0	0	0	4608	304	11	5	3971	5	DNAH9	17	11593032	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	38606	11593032	69602178	7228	28153											
DNAH9	1770	broad.mit.edu	37	chr17	11650904	11650904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagctcctggctgtgcGgcactctgtatttgtggtgg	4	12	17	8	1	1	0	0	0	1	0	2	2	2	2	1	6	2	4	1	6	1	2	rs118160421	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:11650904G>A	ENST00000262442.4	+	32	6499	c.6431G>A	c.(6430-6432)cGg>cAg	p.R2144Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2144Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2144	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			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)		CTGGCTGTGCGGCACTCTGTA	0.592													G|||	6	0.00119808	0	0	5008	,	,		16981	0.006		0	False		,,,				2504	0					ENST00000262442.3																			0				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						c.(6430-6432)cGg>cAg		dynein, axonemal, heavy chain 9							65	61	62					17																	11650904		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11650904G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6431G>A	17.37:g.11650904G>A	ENSP00000262442:p.Arg2144Gln					DNAH9_ENST00000454412.2_Missense_Mutation_p.R2144Q	p.R2144Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	32	6499	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2144			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6431G>A	CCDS11160.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	35	5.431022	0.96150	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.43294	0.95;0.95	5.03	5.03	0.67393	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	T	0.76147	0.3947	H	0.99740	4.74	0.80722	D	1	D	0.63046	0.992	P	0.52957	0.714	D	0.88648	0.3180	10	0.87932	D	0	.	18.3812	0.90452	0.0:0.0:1.0:0.0	.	2144	Q9NYC9	DYH9_HUMAN	Q	2144;2144;726	ENSP00000262442:R2144Q;ENSP00000414874:R2144Q	ENSP00000262442:R2144Q	R	+	2	0	DNAH9	11591629	1.000000	0.71417	0.929000	0.37066	0.832000	0.47134	9.649000	0.98487	2.346000	0.79739	0.557000	0.71058	CGG		0.592	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		15	23	0	0	0	1	0	15	23					A	11650904	G	A	11650904	3	1	435	1	0	0	0	0	1	0	0	0	4608	1116	39	2	6557	2	DNAH9	17	11650904	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	57872	11650904	69544306	7229	28154											
DNAH9	1770	broad.mit.edu	37	chr17	11656223	11656223	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggattttactggatggCgacatagatccaatgtggat	12	12	12	5	1	0	1	0	0	0	1	1	5	1	4	1	4	1	0	1	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:11656223C>T	ENST00000262442.4	+	33	6752	c.6684C>T	c.(6682-6684)ggC>ggT	p.G2228G	DNAH9_ENST00000454412.2_Silent_p.G2228G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2228	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			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)		TACTGGATGGCGACATAGATC	0.433																																						ENST00000262442.3																			0				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						c.(6682-6684)ggC>ggT		dynein, axonemal, heavy chain 9							135	118	123					17																	11656223		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11656223C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6684C>T	17.37:g.11656223C>T						DNAH9_ENST00000454412.2_Silent_p.G2228G	p.G2228G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	33	6752	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2228			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.6684C>T	CCDS11160.1																																																																																				0.433	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		21	28	0	0	0	1	0	21	28					T	11656223	C	T	11656223	2	4	435	1	0	0	0	0	0	0	0	1	4608	755	27	1		1	DNAH9	17	11656223	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5319	11656223	69538987	7230	28155											
DNAH9	1770	broad.mit.edu	37	chr17	11700997	11700997	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggggagcccaaatacatGcctgtacagtcttgggaact	11	10	11	9	0	1	0	0	0	1	0	1	2	1	2	2	3	5	1	2	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:11700997G>C	ENST00000262442.4	+	43	8375	c.8307G>C	c.(8305-8307)atG>atC	p.M2769I	DNAH9_ENST00000454412.2_Missense_Mutation_p.M2769I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2769					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			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)		CCAAATACATGCCTGTACAGT	0.488																																						ENST00000262442.3																			0				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						c.(8305-8307)atG>atC		dynein, axonemal, heavy chain 9							169	135	147					17																	11700997		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11700997G>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8307G>C	17.37:g.11700997G>C	ENSP00000262442:p.Met2769Ile					DNAH9_ENST00000454412.2_Missense_Mutation_p.M2769I	p.M2769I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	43	8375	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2769					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.8307G>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984223	0.35036	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.25579	1.84;1.79	5.68	5.68	0.88126	.	0.207799	0.47852	D	0.000213	T	0.37839	0.1018	M	0.83774	2.66	0.80722	D	1	B	0.29301	0.241	B	0.28638	0.092	T	0.21690	-1.0238	10	0.36615	T	0.2	.	19.7849	0.96432	0.0:0.0:1.0:0.0	.	2769	Q9NYC9	DYH9_HUMAN	I	2769;2769;1351	ENSP00000262442:M2769I;ENSP00000414874:M2769I	ENSP00000262442:M2769I	M	+	3	0	DNAH9	11641722	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	7.871000	0.87180	2.671000	0.90904	0.650000	0.86243	ATG		0.488	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		11	21	0	0	0	1	0	11	21					C	11700997	G	C	11700997	3	2	435	1	0	0	0	0	1	0	0	0	4608	1319	46	5	8477	5	DNAH9	17	11700997	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44774	11700997	69494213	7231	28156											
DNAH9	1770	broad.mit.edu	37	chr17	11757589	11757589	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttgtggccaccaaatcCtatgcggctgcaggcctctg	7	10	12	12	1	1	0	0	0	1	0	2	1	2	0	4	3	2	3	4	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:11757589C>T	ENST00000262442.4	+	50	9845	c.9777C>T	c.(9775-9777)tcC>tcT	p.S3259S	DNAH9_ENST00000454412.2_Silent_p.S3259S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3259	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			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)		CCACCAAATCCTATGCGGCTG	0.493																																						ENST00000262442.3																			0				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						c.(9775-9777)tcC>tcT		dynein, axonemal, heavy chain 9							144	137	139					17																	11757589		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11757589C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9777C>T	17.37:g.11757589C>T						DNAH9_ENST00000454412.2_Silent_p.S3259S	p.S3259S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	50	9845	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3259			Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.9777C>T	CCDS11160.1																																																																																				0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	146	0	0	0	1	0	4	146					T	11757589	C	T	11757589	2	4	435	1	0	0	0	0	0	0	0	1	4608	668	24	3		3	DNAH9	17	11757589	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	56592	11757589	69437621	7232	28157											
ZNF18	7566	broad.mit.edu	37	chr17	11886664	11886664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatgaaggtatattcctGccagctcttccccaaattct	10	13	6	12	0	2	2	0	2	2	0	4	2	4	2	4	1	2	2	4	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:11886664G>A	ENST00000322748.3	-	8	1416	c.812C>T	c.(811-813)gCa>gTa	p.A271V	ZNF18_ENST00000454073.3_Missense_Mutation_p.A270V|ZNF18_ENST00000580306.2_Missense_Mutation_p.A271V	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	271	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GTATATTCCTGCCAGCTCTTC	0.433																																						ENST00000322748.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14						c.(811-813)gCa>gTa		zinc finger protein 18							118	115	116					17																	11886664		2203	4300	6503	SO:0001583	missense	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11886664G>A	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"Zinc fingers, C2H2-type", "-", "-", "-"	12969	protein-coding gene	gene with protein product		194524	"zinc finger protein 18 (KOX 11)"			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.812C>T	17.37:g.11886664G>A	ENSP00000315664:p.Ala271Val					ZNF18_ENST00000580613.1_Missense_Mutation_p.A219V|ZNF18_ENST00000580306.1_Missense_Mutation_p.A271V|ZNF18_ENST00000454073.3_Missense_Mutation_p.A270V	p.A271V	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	8	1416	-			271			KRAB.		Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	ENST00000322748.3	37	c.812C>T	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	G	2.560	-0.302052	0.05495	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T	0.06294	3.32	4.4	0.963	0.19649	Krueppel-associated box (2);	0.663487	0.13378	N	0.392322	T	0.02929	0.0087	N	0.15975	0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.45891	-0.9230	10	0.19147	T	0.46	0.0278	1.8664	0.03199	0.1191:0.1898:0.4664:0.2247	.	270;271	P17022-2;P17022	.;ZNF18_HUMAN	V	271	ENSP00000315664:A271V	ENSP00000315664:A271V	A	-	2	0	ZNF18	11827389	0.000000	0.05858	0.063000	0.19743	0.040000	0.13550	0.345000	0.19979	0.470000	0.27294	0.563000	0.77884	GCA		0.433	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		30	54	0	0	0	1	0	30	54					A	11886664	G	A	11886664	3	1	435	1	0	0	0	0	1	0	0	0	17744	1319	46	3	845	3	ZNF18	17	11886664	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	129075	11886664	69308546	7233	28158											
ZNF18	7566	broad.mit.edu	37	chr17	11896029	11896029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctgaaaagctggcgtgCggtctcagggctggagagtt	7	9	16	9	2	1	2	1	1	1	1	2	3	1	2	1	4	3	3	1	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:11896029C>T	ENST00000322748.3	-	4	722	c.118G>A	c.(118-120)Gca>Aca	p.A40T	ZNF18_ENST00000454073.3_Missense_Mutation_p.A40T|ZNF18_ENST00000580306.2_Missense_Mutation_p.A40T	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	40					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AGCTGGCGTGCGGTCTCAGGG	0.582																																						ENST00000322748.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14						c.(118-120)Gca>Aca		zinc finger protein 18							87	82	84					17																	11896029		2203	4300	6503	SO:0001583	missense	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11896029C>T	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"Zinc fingers, C2H2-type", "-", "-", "-"	12969	protein-coding gene	gene with protein product		194524	"zinc finger protein 18 (KOX 11)"			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.118G>A	17.37:g.11896029C>T	ENSP00000315664:p.Ala40Thr					ZNF18_ENST00000580613.1_5'UTR|ZNF18_ENST00000580306.1_Missense_Mutation_p.A40T|ZNF18_ENST00000454073.3_Missense_Mutation_p.A40T	p.A40T	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	4	722	-			40					Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	ENST00000322748.3	37	c.118G>A	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294389	0.60086	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T;T	0.04406	3.63;3.63	5.29	4.25	0.50352	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.000000	0.45361	D	0.000367	T	0.19366	0.0465	M	0.83483	2.645	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.73380	0.929;0.98	T	0.02909	-1.1095	10	0.36615	T	0.2	-14.3875	10.3898	0.44162	0.195:0.805:0.0:0.0	.	40;40	P17022-2;P17022	.;ZNF18_HUMAN	T	40	ENSP00000391376:A40T;ENSP00000315664:A40T	ENSP00000315664:A40T	A	-	1	0	ZNF18	11836754	0.018000	0.18449	0.236000	0.24074	0.888000	0.51559	0.536000	0.23129	2.473000	0.83533	0.655000	0.94253	GCA		0.582	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		26	37	0	0	0	1	0	26	37					T	11896029	C	T	11896029	3	4	435	1	0	0	0	0	1	0	0	0	17744	768	27	1	1555	1	ZNF18	17	11896029	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9365	11896029	69299181	7234	28159											
MAP2K4	6416	broad.mit.edu	37	chr17	12013734	12013734	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaagaaaacttgaaaattAttcacagaggtgggtatgga	18	10	10	3	0	1	3	1	1	0	2	1	4	1	4	0	3	1	1	0	3	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:12013734A>T	ENST00000353533.5	+	6	739	c.676A>T	c.(676-678)Att>Ttt	p.I226F	MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Missense_Mutation_p.I237F	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CTTGAAAATTATTCACAGAGG	0.318			"D, Mis, N"		"pancreatic, breast, colorectal"																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"D, Mis, N"	mitogen-activated protein kinase kinase 4			E			"pancreatic, breast, colorectal"		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(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						c.(709-711)Att>Ttt		mitogen-activated protein kinase kinase 4							90	91	91					17																	12013734		2203	4299	6502	SO:0001583	missense	6416				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	g.chr17:12013734A>T	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.676A>T	17.37:g.12013734A>T	ENSP00000262445:p.Ile226Phe					MAP2K4_ENST00000353533.5_Missense_Mutation_p.I226F	p.I237F			P45985	MP2K4_HUMAN		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)	7	762	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	226			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.709A>T	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.740160	0.49045	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.26810	1.71;1.71	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48677	0.1513	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.988;0.995;0.997	T	0.50294	-0.8845	10	0.87932	D	0	.	14.5856	0.68322	1.0:0.0:0.0:0.0	.	98;237;226	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	F	226;237;203;98	ENSP00000262445:I226F;ENSP00000410402:I237F	ENSP00000262445:I226F	I	+	1	0	MAP2K4	11954459	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.627000	0.90974	2.137000	0.66172	0.460000	0.39030	ATT		0.318	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			15	74	0	0	0	1	0	15	74					T	12013734	A	T	12013734	3	4	435	1	0	0	0	0	1	0	0	0	9239	449	16	5	698	5	MAP2K4	17	12013734	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	117705	12013734	69181476	7235	28160											
RICH2	9912	broad.mit.edu	37	chr17	12846944	12846944	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataccacaggaagtccctgAcactattgcaggctgtattg	12	10	9	10	0	0	1	0	1	0	0	1	2	1	2	2	2	2	3	2	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:12846944A>G	ENST00000379672.5	+	9	991	c.691A>G	c.(691-693)Aca>Gca	p.T231A	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.T231A|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.T231A	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	231	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GAAGTCCCTGACACTATTGCA	0.557																																						ENST00000379672.5																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(691-693)Aca>Gca		Rho GTPase activating protein 44							152	143	146					17																	12846944		2009	4163	6172	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12846944A>G		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"Rho GTPase activating proteins"	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.691A>G	17.37:g.12846944A>G	ENSP00000368994:p.Thr231Ala					ARHGAP44_ENST00000262444.9_Missense_Mutation_p.T231A|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.T231A	p.T231A	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN			9	991	+			231			BAR.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.691A>G	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.944802	0.34283	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	T;T	0.28895	1.59;1.59	5.63	3.43	0.39272	BAR (3);	0.186804	0.47852	N	0.000201	T	0.08044	0.0201	N	0.01228	-0.945	0.29183	N	0.876386	B;B	0.06786	0.0;0.001	B;B	0.13407	0.002;0.009	T	0.34950	-0.9808	10	0.02654	T	1	.	6.3574	0.21408	0.7388:0.0:0.2612:0.0	.	231;231	A6NCP5;Q17R89	.;RHG44_HUMAN	A	231	ENSP00000368994:T231A;ENSP00000342566:T231A	ENSP00000342566:T231A	T	+	1	0	ARHGAP44	12787669	1.000000	0.71417	0.726000	0.30738	0.924000	0.55760	3.483000	0.53194	0.960000	0.38005	0.455000	0.32223	ACA		0.557	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		4	83	0	0	0	1	0	4	83					G	12846944	A	G	12846944	3	3	435	1	0	0	0	0	1	0	0	0	13357	275	10	4	725	4	RICH2	17	12846944	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	833210	12846944	68348266	7236	28161											
RICH2	9912	broad.mit.edu	37	chr17	12847434	12847434	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccgctggaggagcaccTcaccatcagcggccgggaga	10	3	15	13	3	2	1	2	0	0	1	2	5	2	3	4	4	3	2	4	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:12847434T>G	ENST00000379672.5	+	10	1082	c.782T>G	c.(781-783)cTc>cGc	p.L261R	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.L261R|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.L261R	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	261	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GAGGAGCACCTCACCATCAGC	0.597																																						ENST00000379672.5																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(781-783)cTc>cGc		Rho GTPase activating protein 44							40	48	46					17																	12847434		2069	4209	6278	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12847434T>G		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"Rho GTPase activating proteins"	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.782T>G	17.37:g.12847434T>G	ENSP00000368994:p.Leu261Arg					ARHGAP44_ENST00000262444.9_Missense_Mutation_p.L261R|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.L261R	p.L261R	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN			10	1082	+			261			Rho-GAP.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.782T>G	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.658966	0.47467	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	T;T	0.38240	1.15;1.15	5.57	5.57	0.84162	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.68339	0.2990	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.76780	-0.2833	10	0.87932	D	0	.	13.9692	0.64228	0.0:0.0:0.0:1.0	.	261;261	A6NCP5;Q17R89	.;RHG44_HUMAN	R	261	ENSP00000368994:L261R;ENSP00000342566:L261R	ENSP00000342566:L261R	L	+	2	0	ARHGAP44	12788159	1.000000	0.71417	0.663000	0.29738	0.975000	0.68041	7.997000	0.88414	2.244000	0.73946	0.533000	0.62120	CTC		0.597	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		5	19	0	0	0	1	0	5	19					G	12847434	T	G	12847434	3	3	435	1	0	0	0	0	1	0	0	0	13357	1551	54	5	820	5	RICH2	17	12847434	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	490	12847434	68347776	7237	28162											
CDRT15	146822	broad.mit.edu	37	chr17	14140020	14140020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctgtggtacctggatgCgccttattacaacgggcgac	7	11	12	11	3	0	0	0	0	0	0	1	2	1	1	3	3	4	1	3	3	4	3	rs560798731	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:14140020C>T	ENST00000420162.2	-	1	146	c.131G>A	c.(130-132)cGc>cAc	p.R44H	CDRT15_ENST00000431716.2_Silent_p.A19A	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN	CMT1A duplicated region transcript 15	44										endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TACCTGGATGCGCCTTATTAC	0.612													C|||	3	0.000599042	0	0	5008	,	,		19860	0.003		0	False		,,,				2504	0					ENST00000420162.2																			0				endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6						c.(130-132)cGc>cAc		CMT1A duplicated region transcript 15							18	18	18					17																	14140020		2199	4292	6491	SO:0001583	missense	146822							g.chr17:14140020C>T	AF355097	CCDS32569.1	17p12	2012-11-19			ENSG00000223510	ENSG00000223510			14395	protein-coding gene	gene with protein product						11381029	Standard	NM_001007530		Approved		uc010vvu.2	Q96T59	OTTHUMG00000179686	ENST00000420162.2:c.131G>A	17.37:g.14140020C>T	ENSP00000402355:p.Arg44His					CDRT15_ENST00000431716.2_Silent_p.A19A	p.R44H	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	1	146	-			44					B2RUU5	Missense_Mutation	SNP	ENST00000420162.2	37	c.131G>A	CCDS32569.1	.	.	.	.	.	.	.	.	.	.	C	2.087	-0.409403	0.04799	.	.	ENSG00000223510	ENST00000420162	T	0.51817	0.69	0.534	-0.695	0.11291	.	.	.	.	.	T	0.35941	0.0949	N	0.19112	0.55	0.09310	N	1	D	0.63880	0.993	P	0.50970	0.655	T	0.21655	-1.0239	8	0.40728	T	0.16	.	.	.	.	.	44	Q96T59	CDRTF_HUMAN	H	44	ENSP00000402355:R44H	ENSP00000402355:R44H	R	-	2	0	CDRT15	14080745	0.049000	0.20398	0.002000	0.10522	0.008000	0.06430	0.753000	0.26376	-0.251000	0.09542	0.289000	0.19496	CGC		0.612	CDRT15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252853.1	NM_001007530		6	13	0	0	0	1	0	6	13					T	14140020	C	T	14140020	3	4	435	1	0	0	0	0	1	0	0	0	3175	768	27	1	445	1	CDRT15	17	14140020	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1292586	14140020	67055190	7238	28163											
TEKT3	64518	broad.mit.edu	37	chr17	15234866	15234866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgttggtctagggtgggCgtaagttgtcgttaaagtac	7	14	16	4	2	1	0	0	0	1	0	2	0	1	0	0	4	1	5	0	4	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:15234866C>T	ENST00000395930.1	-	3	223	c.37G>A	c.(37-39)Gcc>Acc	p.A13T	TEKT3_ENST00000338696.2_Missense_Mutation_p.A13T	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	13					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CTAGGGTGGGCGTAAGTTGTC	0.433																																						ENST00000395930.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23						c.(37-39)Gcc>Acc		tektin 3							92	86	88					17																	15234866		2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15234866C>T	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.37G>A	17.37:g.15234866C>T	ENSP00000379263:p.Ala13Thr					TEKT3_ENST00000338696.2_Missense_Mutation_p.A13T	p.A13T	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	3	223	-			13					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.37G>A	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484052	0.26598	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000536146;ENST00000539316;ENST00000543896	T;T;T;T;T	0.47177	4.12;4.12;1.51;1.5;0.85	5.47	5.47	0.80525	.	0.071179	0.64402	D	0.000017	T	0.36468	0.0968	L	0.35487	1.065	0.38830	D	0.955833	B	0.21821	0.061	B	0.14023	0.01	T	0.17198	-1.0377	10	0.18710	T	0.47	-6.8483	14.9372	0.70967	0.0:0.9294:0.0:0.0706	.	13	Q9BXF9	TEKT3_HUMAN	T	13	ENSP00000379263:A13T;ENSP00000343995:A13T;ENSP00000446111:A13T;ENSP00000439713:A13T;ENSP00000444180:A13T	ENSP00000343995:A13T	A	-	1	0	TEKT3	15175591	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	3.571000	0.53841	2.752000	0.94435	0.650000	0.86243	GCC		0.433	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		9	25	0	0	0	1	0	9	25					T	15234866	C	T	15234866	3	4	435	1	0	0	0	0	1	0	0	0	15751	768	27	1	1463	1	TEKT3	17	15234866	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1094846	15234866	65960344	7239	28164											
FAM18B2	201158	broad.mit.edu	37	chr17	15457128	15457128	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaaagaataagtggaaaaaCgatgctactggatgtctgaa	17	8	11	5	2	1	2	0	1	1	1	1	6	1	4	0	2	3	1	0	2	7	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:15457128C>T	ENST00000225576.3	-	3	206	c.111G>A	c.(109-111)tcG>tcA	p.S37S	TVP23C_ENST00000428082.2_Silent_p.S37S|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Silent_p.S37S|TVP23C_ENST00000438826.3_Silent_p.S37S|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000518321.1_Silent_p.S37S	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	37						integral component of membrane (GO:0016021)											AGTGGAAAAACGATGCTACTG	0.368																																						ENST00000522212.2																			0											c.(109-111)tcG>tcA									204	201	202					17																	15457128		2203	4297	6500	SO:0001819	synonymous_variant	0							g.chr17:15457128C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.111G>A	17.37:g.15457128C>T						TVP23C_ENST00000225576.3_Silent_p.S37S|TVP23C_ENST00000438826.3_Silent_p.S37S|TVP23C_ENST00000428082.2_Silent_p.S37S|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000518321.1_Silent_p.S37S|TVP23C_ENST00000584811.1_5'UTR	p.S37S	NM_001204478.1	NP_001191407.1					3	223	-								Q3LIC7	Silent	SNP	ENST00000225576.3	37	c.111G>A	CCDS11170.1																																																																																				0.368	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		49	80	0	0	0	1	0	49	80					T	15457128	C	T	15457128	2	4	435	1	0	0	0	0	0	0	0	1	5520	523	19	1		1	FAM18B2	17	15457128	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	222262	15457128	65738082	7240	28165											
TTC19	54902	broad.mit.edu	37	chr17	15905279	15905279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagttaattttgcatgaCgctcttcgtctcgcctatca	7	15	8	11	3	3	2	1	2	2	0	5	2	3	2	1	0	1	4	1	0	2	5	rs577938593		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:15905279C>T	ENST00000261647.5	+	3	832	c.363C>T	c.(361-363)gaC>gaT	p.D121D	ZSWIM7_ENST00000472495.1_5'Flank|ZSWIM7_ENST00000486655.1_5'Flank|ZSWIM7_ENST00000399277.1_5'Flank|ZSWIM7_ENST00000399280.2_5'Flank|TTC19_ENST00000486880.2_Silent_p.D242D|TTC19_ENST00000497842.2_3'UTR	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	121					cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.D242D(1)		central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTTTGCATGACGCTCTTCGTC	0.383													C|||	1	0.000199681	8e-04	0	5008	,	,		22819	0		0	False		,,,				2504	0					ENST00000261647.5																			1	Substitution - coding silent(1)	p.D242D(1)	stomach(1)	central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5						c.(361-363)gaC>gaT		tetratricopeptide repeat domain 19							126	116	119					17																	15905279		2203	4300	6503	SO:0001819	synonymous_variant	54902				cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding	g.chr17:15905279C>T	AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"Tetratricopeptide (TTC) repeat domain containing"	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.363C>T	17.37:g.15905279C>T						TTC19_ENST00000486880.2_Silent_p.D242D|TTC19_ENST00000497842.2_3'UTR	p.D121D	NM_017775.3	NP_060245.3	Q6DKK2	TTC19_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	3	832	+			121					A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Silent	SNP	ENST00000261647.5	37	c.363C>T	CCDS11174.2																																																																																				0.383	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000131725.6	NM_017775		19	33	0	0	0	1	0	19	33					T	15905279	C	T	15905279	2	4	435	1	0	0	0	0	0	0	0	1	16683	535	19	1		1	TTC19	17	15905279	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	448151	15905279	65289931	7241	28166											
NCOR1	9611	broad.mit.edu	37	chr17	15971251	15971251	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcatggctggatccaagtgCgtgggcaggtggctccgata	7	8	17	9	2	0	0	0	0	0	0	2	2	2	1	2	6	1	4	2	6	2	1	rs376520817		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:15971251C>T	ENST00000268712.3	-	32	4955	c.4698G>A	c.(4696-4698)acG>acA	p.T1566T	NCOR1_ENST00000395857.3_Silent_p.T150T|NCOR1_ENST00000395851.1_Silent_p.T1582T	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1566	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			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)		GATCCAAGTGCGTGGGCAGGT	0.512													C|||	1	0.000199681	0	0.0014	5008	,	,		18390	0		0	False		,,,				2504	0					ENST00000268712.3																			0				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						c.(4696-4698)acG>acA		nuclear receptor corepressor 1		C	,	0,4406		0,0,2203	77	75	76		4746,4698	-5.1	0.9	17		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NCOR1	NM_001190440.1,NM_006311.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1582/2338,1566/2441	15971251	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9611				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	g.chr17:15971251C>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4698G>A	17.37:g.15971251C>T						NCOR1_ENST00000395851.1_Silent_p.T1582T|NCOR1_ENST00000395857.3_Silent_p.T150T	p.T1566T	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	32	4955	-			1566			Interaction with C1D (By similarity).|Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.4698G>A	CCDS11175.1																																																																																				0.512	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		13	14	0	0	0	1	0	13	14					T	15971251	C	T	15971251	2	4	435	1	0	0	0	0	0	0	0	1	10235	755	27	1		1	NCOR1	17	15971251	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	65972	15971251	65223959	7242	28167											
ZNF287	57336	broad.mit.edu	37	chr17	16455754	16455754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaaaggcttttccacattCattacatttataacacttct	13	15	3	10	0	2	0	1	0	1	0	3	0	3	0	1	1	3	2	1	1	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:16455754C>T	ENST00000395824.1	-	6	2319	c.1702G>A	c.(1702-1704)Gaa>Aaa	p.E568K	ZNF287_ENST00000395825.3_Missense_Mutation_p.E568K			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	561					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTTCCACATTCATTACATTTA	0.353																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(1702-1704)Gaa>Aaa		zinc finger protein 287							87	90	89					17																	16455754		2203	4300	6503	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16455754C>T	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1702G>A	17.37:g.16455754C>T	ENSP00000379168:p.Glu568Lys					ZNF287_ENST00000395825.3_Missense_Mutation_p.E568K	p.E568K			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	2319	-			561					Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.1702G>A	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228473	0.39399	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.07327	3.2;3.2	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.135344	0.34959	N	0.003559	T	0.08626	0.0214	L	0.31476	0.935	0.19300	N	0.999976	P	0.34815	0.47	B	0.33750	0.169	T	0.21518	-1.0243	10	0.62326	D	0.03	.	16.6061	0.84830	0.0:1.0:0.0:0.0	.	561	Q9HBT7	ZN287_HUMAN	K	568	ENSP00000379169:E568K;ENSP00000379168:E568K	ENSP00000379168:E568K	E	-	1	0	ZNF287	16396479	0.000000	0.05858	0.999000	0.59377	0.996000	0.88848	0.312000	0.19397	2.873000	0.98535	0.561000	0.74099	GAA		0.353	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			22	39	0	0	0	1	0	22	39					T	16455754	C	T	16455754	3	4	435	1	0	0	0	0	1	0	0	0	17822	835	29	3	587	3	ZNF287	17	16455754	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	484503	16455754	64739456	7243	28168											
CCDC144A	9720	broad.mit.edu	37	chr17	16593939	16593939	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagaccagccccagcacgaCgtccgcctggaagatcttgg	9	7	11	14	3	1	2	0	0	1	2	2	4	2	3	5	2	2	1	5	2	2	2	rs2621675		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:16593939C>T	ENST00000360524.8	+	1	301	c.225C>T	c.(223-225)gaC>gaT	p.D75D	CCDC144A_ENST00000456009.1_Silent_p.D75D|RP11-219A15.1_ENST00000448331.3_Silent_p.D75D|CCDC144A_ENST00000443444.2_Silent_p.D75D|CCDC144A_ENST00000399273.1_Silent_p.D75D|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000340621.5_Silent_p.D75D|RNU6-405P_ENST00000516637.1_RNA	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	75																	CCCAGCACGACGTCCGCCTGG	0.652																																						ENST00000443444.2																			0											c.(223-225)gaC>gaT		coiled-coil domain containing 144A							77	84	81					17																	16593939		2203	4296	6499	SO:0001819	synonymous_variant	9720							g.chr17:16593939C>T	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.225C>T	17.37:g.16593939C>T						CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000360524.8_Silent_p.D75D|RP11-219A15.1_ENST00000448331.3_Silent_p.D75D|CCDC144A_ENST00000456009.1_Silent_p.D75D|CCDC144A_ENST00000340621.5_Silent_p.D75D|CCDC144A_ENST00000399273.1_Silent_p.D75D	p.D75D			A2RUR9	C144A_HUMAN			1	365	+			75					O60311|Q6ZU57	Silent	SNP	ENST00000360524.8	37	c.225C>T	CCDS45621.1																																																																																				0.652	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			37	58	0	0	0	1	0	37	58					T	16593939	C	T	16593939	2	4	435	1	0	0	0	0	0	0	0	1	2777	535	19	1		1	CCDC144A	17	16593939	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	138185	16593939	64601271	7244	28169											
TNFRSF13B	23495	broad.mit.edu	37	chr17	16855889	16855889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccacccccgtccacaggcCctgtggaactgagagaccag	10	4	11	16	1	0	2	0	1	0	1	1	4	1	3	6	2	2	0	6	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:16855889C>A	ENST00000261652.2	-	2	82	c.70G>T	c.(70-72)Ggc>Tgc	p.G24C	TNFRSF13B_ENST00000437538.2_Intron|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.G24C|TNFRSF13B_ENST00000583789.1_Intron|TNFRSF13B_ENST00000581616.2_5'UTR	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	24					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						GTCCACAGGCCCTGTGGAACT	0.612									IgA Deficiency, Selective																													ENST00000261652.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						c.(70-72)Ggc>Tgc		tumor necrosis factor receptor superfamily, member 13B							49	44	46					17																	16855889		2203	4300	6503	SO:0001583	missense	23495	IgA Deficiency, Selective	Familial Cancer Database	IGAD1, IGAD2	cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr17:16855889C>A	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"Tumor necrosis factor receptor superfamily", "CD molecules"	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.70G>T	17.37:g.16855889C>A	ENSP00000261652:p.Gly24Cys					TNFRSF13B_ENST00000583789.1_Intron|TNFRSF13B_ENST00000437538.2_Intron|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.G24C|TNFRSF13B_ENST00000581616.2_5'UTR	p.G24C	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN			2	82	-			24					B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	c.70G>T	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	C	3.975	-0.007550	0.07773	.	.	ENSG00000240505	ENST00000261652	D	0.93859	-3.3	3.02	3.02	0.34903	.	.	.	.	.	D	0.90920	0.7146	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70016	0.967;0.951	D	0.90717	0.4632	9	0.72032	D	0.01	-14.6161	9.8025	0.40773	0.0:1.0:0.0:0.0	.	24;24	B7Z6V8;O14836	.;TR13B_HUMAN	C	24	ENSP00000261652:G24C	ENSP00000261652:G24C	G	-	1	0	TNFRSF13B	16796614	0.993000	0.37304	0.997000	0.53966	0.141000	0.21300	2.032000	0.41127	2.003000	0.58678	0.460000	0.39030	GGC		0.612	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			8	16	1	0	0.00307968	1	0.00311927	8	16					A	16855889	C	A	16855889	3	1	435	1	0	0	0	0	1	0	0	0	16284	623	22	5	827	5	TNFRSF13B	17	16855889	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	261950	16855889	64339321	7245	28170											
MPRIP	23164	broad.mit.edu	37	chr17	17076038	17076038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccatgaagaacgcccacCgggaggaaatggagcgggag	14	2	16	9	3	0	2	0	1	0	1	0	6	0	6	3	4	3	0	3	4	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:17076038C>T	ENST00000341712.4	+	17	2338	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	RNU6-767P_ENST00000384132.1_RNA|MPRIP_ENST00000395804.3_Missense_Mutation_p.R780W|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.R742W|MPRIP_ENST00000395811.5_Missense_Mutation_p.R780W			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	780	Interaction with RHOA.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				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						GAACGCCCACCGGGAGGAAAT	0.652																																						ENST00000395811.5																			0				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						c.(2338-2340)Cgg>Tgg		myosin phosphatase Rho interacting protein							79	71	74					17																	17076038		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17076038C>T	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"Pleckstrin homology (PH) domain containing"	30321	protein-coding gene	gene with protein product	"Rho interacting protein 3"	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2338C>T	17.37:g.17076038C>T	ENSP00000342379:p.Arg780Trp					MPRIP_ENST00000395804.3_Missense_Mutation_p.R780W|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000341712.4_Missense_Mutation_p.R780W|MPRIP_ENST00000444976.1_Missense_Mutation_p.R742W	p.R780W	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			17	2427	+			780			Interaction with RHOA.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.2338C>T	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.636792|4.636792	0.87760|0.87760	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000313485|ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712	.|T;T;T;T	.|0.26810	.|1.71;2.0;1.98;1.98	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	.|0.220700	.|0.37304	.|N	.|0.002146	T|T	0.48187|0.48187	0.1486|0.1486	L|L	0.53249|0.53249	1.67|1.67	0.51482|0.51482	D|D	0.999925|0.999925	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.87578	.|0.913;0.981;0.998;0.992;0.936	T|T	0.51371|0.51371	-0.8714|-0.8714	5|10	.|0.87932	.|D	.|0	-17.648|-17.648	17.9244|17.9244	0.88979|0.88979	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|779;742;1144;780;780	.|B9EGI2;Q6WCQ1-3;Q9Y6X7;Q6WCQ1-2;Q6WCQ1	.|.;.;.;.;MPRIP_HUMAN	L|W	1144|742;780;780;780	.|ENSP00000400189:R742W;ENSP00000379156:R780W;ENSP00000379149:R780W;ENSP00000342379:R780W	.|ENSP00000342379:R780W	P|R	+|+	2|1	0|2	MPRIP|MPRIP	17016763|17016763	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	3.733000|3.733000	0.55029|0.55029	2.275000|2.275000	0.75901|0.75901	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.652	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		13	40	0	0	0	1	0	13	40					T	17076038	C	T	17076038	3	4	435	1	0	0	0	0	1	0	0	0	9743	643	23	2	2404	2	MPRIP	17	17076038	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	220149	17076038	64119172	7246	28171											
RASD1	51655	broad.mit.edu	37	chr17	17398529	17398529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtcgctgtgtacgctgggCcggcgcgcgaagggtgccac	5	6	18	12	6	0	0	0	0	0	0	1	1	0	0	2	4	2	3	2	4	2	1	rs373249882	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:17398529C>T	ENST00000225688.3	-	2	967	c.756G>A	c.(754-756)cgG>cgA	p.R252R	RASD1_ENST00000579152.1_3'UTR	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	252					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						GTACGCTGGGCCGGCGCGCGA	0.716																																						ENST00000225688.3																			0				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(754-756)cgG>cgA		RAS, dexamethasone-induced 1							13	13	13					17																	17398529		2188	4275	6463	SO:0001819	synonymous_variant	51655				G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity	g.chr17:17398529C>T	AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"ras-related protein", "dexamethasone-induced ras-related protein 1", "activator of G protein signaling"	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.756G>A	17.37:g.17398529C>T						RASD1_ENST00000579152.1_3'UTR	p.R252R	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN			2	967	-			252					B2R709|B4DFF4|Q9NYB4	Silent	SNP	ENST00000225688.3	37	c.756G>A	CCDS11185.1																																																																																				0.716	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131668.1	NM_016084		7	12	0	0	0	1	0	7	12					T	17398529	C	T	17398529	2	4	435	1	0	0	0	0	0	0	0	1	13066	726	26	3		3	RASD1	17	17398529	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	322491	17398529	63796681	7247	28172											
RAI1	10743	broad.mit.edu	37	chr17	17696281	17696281	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatgcagtcttttcgagaaAggtgtggtttccatggcaaa	10	13	11	7	1	2	1	1	0	1	1	4	2	3	1	1	3	1	3	1	3	2	3	rs201842299		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:17696281A>G	ENST00000353383.1	+	3	488	c.19A>G	c.(19-21)Agg>Ggg	p.R7G	RAI1_ENST00000261641.6_Missense_Mutation_p.R7G	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	7					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			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)		TTTTCGAGAAAGGTGTGGTTT	0.557																																						ENST00000353383.1																			0				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						c.(19-21)Agg>Ggg		retinoic acid induced 1							44	46	45					17																	17696281		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17696281A>G	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.19A>G	17.37:g.17696281A>G	ENSP00000323074:p.Arg7Gly					RAI1_ENST00000261641.6_Missense_Mutation_p.R7G	p.R7G	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	488	+			7					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.19A>G	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500471	0.64298	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.72394	-0.65;2.1;-0.07	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000001	T	0.81108	0.4754	M	0.62723	1.935	0.42552	D	0.993119	D	0.71674	0.998	D	0.76071	0.987	D	0.83454	0.0050	10	0.72032	D	0.01	.	13.3841	0.60785	1.0:0.0:0.0:0.0	.	7	Q7Z5J4	RAI1_HUMAN	G	7	ENSP00000323074:R7G;ENSP00000379120:R7G;ENSP00000261641:R7G	ENSP00000261641:R7G	R	+	1	2	RAI1	17637006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.301000	0.59086	1.639000	0.50556	0.379000	0.24179	AGG		0.557	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		8	12	0	0	0	1	0	8	12					G	17696281	A	G	17696281	3	3	435	1	0	0	0	0	1	0	0	0	13007	63	3	4	21	4	RAI1	17	17696281	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	297752	17696281	63498929	7248	28173											
SREBF1	6720	broad.mit.edu	37	chr17	17716711	17716711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccggggcctgcccgccgcCtcagactgcggtcgaggagc	5	4	15	17	5	1	1	1	0	0	1	2	3	1	2	5	4	3	0	5	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:17716711C>A	ENST00000261646.5	-	18	3369	c.3185G>T	c.(3184-3186)aGg>aTg	p.R1062M	MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000355815.4_Missense_Mutation_p.R1092M|SREBF1_ENST00000338854.5_Intron|SREBF1_ENST00000395757.1_Missense_Mutation_p.R808M	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1062					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGCCCGCCGCCTCAGACTGCG	0.682																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(3274-3276)aGg>aTg		sterol regulatory element binding transcription factor 1							15	18	17					17																	17716711		2190	4295	6485	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17716711C>A	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.3185G>T	17.37:g.17716711C>A	ENSP00000261646:p.Arg1062Met					SREBF1_ENST00000338854.5_Intron|SREBF1_ENST00000261646.5_Missense_Mutation_p.R1062M|SREBF1_ENST00000395757.1_Missense_Mutation_p.R808M	p.R1092M	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			19	3444	-			1062					B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.3275G>T	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.52|18.52	3.641942|3.641942	0.67244|0.67244	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161	.|T;T;T	.|0.12984	.|2.63;2.63;2.63	5.33|5.33	3.24|3.24	0.37175|0.37175	.|.	.|0.122542	.|0.51477	.|D	.|0.000098	T|T	0.38026|0.38026	0.1025|0.1025	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.83275	.|0.968;0.987;0.996	T|T	0.30707|0.30707	-0.9969|-0.9969	5|10	.|0.87932	.|D	.|0	-25.3258|-25.3258	9.8913|9.8913	0.41292|0.41292	0.1374:0.7881:0.0:0.0745|0.1374:0.7881:0.0:0.0745	.|.	.|1062;1092;681	.|P36956;P36956-4;A8MTU8	.|SRBP1_HUMAN;.;.	D|M	1069|1092;1062;808;681;899;988	.|ENSP00000348069:R1092M;ENSP00000261646:R1062M;ENSP00000379106:R808M	.|ENSP00000261646:R1062M	E|R	-|-	3|2	2|0	SREBF1|SREBF1	17657436|17657436	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.265000|0.265000	0.26407|0.26407	5.930000|5.930000	0.70104|0.70104	1.174000|1.174000	0.42811|0.42811	0.561000|0.561000	0.74099|0.74099	GAG|AGG		0.682	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		6	5	1	0	0.00116845	1	0.0011864	6	5					A	17716711	C	A	17716711	3	1	435	1	0	0	0	0	1	0	0	0	15140	681	24	5	266	5	SREBF1	17	17716711	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20430	17716711	63478499	7249	28174											
SREBF1	6720	broad.mit.edu	37	chr17	17721180	17721180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacgccctccatgagcaCgtctgtgttccctccactgc	5	11	7	18	2	2	1	1	1	1	0	5	1	5	1	4	0	2	2	4	0	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:17721180C>T	ENST00000261646.5	-	7	1418	c.1234G>A	c.(1234-1236)Gtg>Atg	p.V412M	SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000355815.4_Missense_Mutation_p.V442M|SREBF1_ENST00000338854.5_Missense_Mutation_p.V412M|SREBF1_ENST00000395757.1_Missense_Mutation_p.V158M|SREBF1_ENST00000435530.2_Missense_Mutation_p.V412M	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	412	Interaction with LMNA. {ECO:0000250}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TCCATGAGCACGTCTGTGTTC	0.597																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(1324-1326)Gtg>Atg		sterol regulatory element binding transcription factor 1							97	98	98					17																	17721180		2203	4300	6503	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17721180C>T	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1234G>A	17.37:g.17721180C>T	ENSP00000261646:p.Val412Met					SREBF1_ENST00000338854.5_Missense_Mutation_p.V412M|SREBF1_ENST00000261646.5_Missense_Mutation_p.V412M|SREBF1_ENST00000395757.1_Missense_Mutation_p.V158M|SREBF1_ENST00000435530.2_Missense_Mutation_p.V412M	p.V442M	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			8	1493	-			412			Gly/Pro/Ser-rich.|Interaction with LMNA (By similarity).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.1324G>A	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.01|13.01	2.109051|2.109051	0.37242|0.37242	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000418712;ENST00000423161;ENST00000435530	.|T;T;T;T;T	.|0.79247	.|0.47;0.49;0.5;0.94;-1.25	4.74|4.74	2.76|2.76	0.32466|0.32466	.|.	.|0.213117	.|0.39210	.|N	.|0.001424	T|T	0.76421|0.76421	0.3985|0.3985	L|L	0.39245|0.39245	1.2|1.2	0.09310|0.09310	N|N	0.999998|0.999998	.|D;B;D;D	.|0.71674	.|0.998;0.42;0.991;0.997	.|P;B;P;P	.|0.57468	.|0.742;0.066;0.568;0.821	T|T	0.65664|0.65664	-0.6113|-0.6113	5|10	.|0.29301	.|T	.|0.29	-13.6508|-13.6508	9.2328|9.2328	0.37448|0.37448	0.0:0.8287:0.0:0.1713|0.0:0.8287:0.0:0.1713	.|.	.|412;388;412;442	.|B0I4X3;B0I4X4;P36956;P36956-4	.|.;.;SRBP1_HUMAN;.	H|M	419|412;442;412;158;249;338;412	.|ENSP00000345822:V412M;ENSP00000348069:V442M;ENSP00000261646:V412M;ENSP00000379106:V158M;ENSP00000413389:V412M	.|ENSP00000261646:V412M	R|V	-|-	2|1	0|0	SREBF1|SREBF1	17661905|17661905	0.000000|0.000000	0.05858|0.05858	0.403000|0.403000	0.26384|0.26384	0.257000|0.257000	0.26127|0.26127	0.206000|0.206000	0.17375|0.17375	0.462000|0.462000	0.27095|0.27095	-0.320000|-0.320000	0.08662|0.08662	CGT|GTG		0.597	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		30	37	0	0	0	1	0	30	37					T	17721180	C	T	17721180	3	4	435	1	0	0	0	0	1	0	0	0	15140	536	19	1	2261	1	SREBF1	17	17721180	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4469	17721180	63474030	7250	28175											
ATPAF2	91647	broad.mit.edu	37	chr17	17927995	17927995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttgaagttccactaatGtctcgggctcctccaccctg	6	13	7	15	1	1	1	0	1	1	0	6	1	5	1	5	1	0	2	5	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:17927995G>A	ENST00000474627.3	-	5	600	c.446C>T	c.(445-447)aCa>aTa	p.T149I	ATPAF2_ENST00000469327.1_5'UTR|ATPAF2_ENST00000585101.1_Silent_p.D100D	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	149					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					TTCCACTAATGTCTCGGGCTC	0.413																																						ENST00000474627.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8						c.(445-447)aCa>aTa		ATP synthase mitochondrial F1 complex assembly factor 2							153	130	138					17																	17927995		2203	4300	6503	SO:0001583	missense	91647				proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding	g.chr17:17927995G>A	AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"Mitochondrial respiratory chain complex assembly factors"	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.446C>T	17.37:g.17927995G>A	ENSP00000417190:p.Thr149Ile					ATPAF2_ENST00000469327.1_5'UTR|ATPAF2_ENST00000585101.1_Silent_p.D100D	p.T149I	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN			5	600	-	all_neural(463;0.228)		149					A6NDE5|A8K2J2|Q6XYC7	Missense_Mutation	SNP	ENST00000474627.3	37	c.446C>T	CCDS32585.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781561	0.49891	.	.	ENSG00000171953	ENST00000474627;ENST00000444058	T;T	0.77358	-1.09;-1.09	4.81	4.81	0.61882	ATPase assembly, ATP12, domain (1);	0.155454	0.53938	D	0.000042	T	0.71854	0.3389	L	0.45352	1.415	0.29626	N	0.845857	P	0.45634	0.863	B	0.42625	0.393	T	0.71600	-0.4544	10	0.40728	T	0.16	-18.1298	13.5665	0.61822	0.0:0.1566:0.8433:0.0	.	149	Q8N5M1	ATPF2_HUMAN	I	149	ENSP00000417190:T149I;ENSP00000397198:T149I	ENSP00000434980:T149I	T	-	2	0	ATPAF2	17868720	0.998000	0.40836	0.997000	0.53966	0.984000	0.73092	3.102000	0.50291	2.360000	0.80028	0.561000	0.74099	ACA		0.413	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131934.3	NM_145691		43	50	0	0	0	1	0	43	50					A	17927995	G	A	17927995	3	1	435	1	0	0	0	0	1	0	0	0	1201	1377	48	3	439	3	ATPAF2	17	17927995	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	206815	17927995	63267215	7251	28176											
DRG2	1819	broad.mit.edu	37	chr17	18001642	18001642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagcgtcctatgagttcaCcactctgacgtgtattcctg	7	12	10	12	2	2	2	1	2	1	0	4	2	4	2	3	1	1	3	3	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18001642C>T	ENST00000225729.3	+	3	422	c.284C>T	c.(283-285)aCc>aTc	p.T95I	DRG2_ENST00000583355.1_Intron|DRG2_ENST00000395726.4_Missense_Mutation_p.T95I	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	95	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TATGAGTTCACCACTCTGACG	0.547																																						ENST00000225729.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14						c.(283-285)aCc>aTc		developmentally regulated GTP binding protein 2							297	245	263					17																	18001642		2203	4300	6503	SO:0001583	missense	1819				signal transduction		GTP binding	g.chr17:18001642C>T	X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"developmentally regulated GTP-binding protein 2"			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.284C>T	17.37:g.18001642C>T	ENSP00000225729:p.Thr95Ile					DRG2_ENST00000583355.1_Intron|DRG2_ENST00000395726.4_Missense_Mutation_p.T95I	p.T95I	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN			3	422	+	all_neural(463;0.228)		95			G.		B2R8G5|Q53Y50|Q9BWB2	Missense_Mutation	SNP	ENST00000225729.3	37	c.284C>T	CCDS11191.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021445	0.54576	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.22743	1.94;1.94	4.71	4.71	0.59529	Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	H	0.97707	4.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.78886	-0.2027	10	0.87932	D	0	-22.6661	17.8708	0.88810	0.0:1.0:0.0:0.0	.	95;95;95	B4DIG2;A8MZF9;P55039	.;.;DRG2_HUMAN	I	95	ENSP00000379076:T95I;ENSP00000225729:T95I	ENSP00000225729:T95I	T	+	2	0	DRG2	17942367	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.490000	0.81461	2.437000	0.82529	0.563000	0.77884	ACC		0.547	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3	NM_001388		25	152	0	0	0	1	0	25	152					T	18001642	C	T	18001642	3	4	435	1	0	0	0	0	1	0	0	0	4762	507	18	3	294	3	DRG2	17	18001642	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	73647	18001642	63193568	7252	28177											
MYO15A	51168	broad.mit.edu	37	chr17	18059601	18059601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcctcttctcagcccgagCgcaccaggtcaagaccctgg	8	7	9	17	2	3	1	2	0	2	1	5	2	4	1	4	2	2	1	4	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18059601C>T	ENST00000205890.5	+	48	8890	c.8552C>T	c.(8551-8553)gCg>gTg	p.A2851V	MYO15A_ENST00000418233.3_Missense_Mutation_p.A115V	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2851	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCAGCCCGAGCGCACCAGGTC	0.547																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(8551-8553)gCg>gTg		myosin XVA							94	94	94					17																	18059601		2032	4185	6217	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18059601C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8552C>T	17.37:g.18059601C>T	ENSP00000205890:p.Ala2851Val					MYO15A_ENST00000418233.3_Missense_Mutation_p.A115V	p.A2851V	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			48	8890	+	all_neural(463;0.228)		2851			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.8552C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109881	0.56398	.	.	ENSG00000091536	ENST00000205890;ENST00000536811	D	0.95205	-3.64	4.41	4.41	0.53225	.	.	.	.	.	D	0.96839	0.8968	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.974;0.992;0.945	D	0.97612	1.0130	9	0.87932	D	0	.	15.9789	0.80091	0.0:1.0:0.0:0.0	.	50;115;2851	B7Z6L1;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	V	2851;50	ENSP00000205890:A2851V	ENSP00000205890:A2851V	A	+	2	0	MYO15A	18000326	1.000000	0.71417	0.674000	0.29902	0.878000	0.50629	7.433000	0.80362	2.005000	0.58758	0.462000	0.41574	GCG		0.547	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		12	29	0	0	0	1	0	12	29					T	18059601	C	T	18059601	3	4	435	1	0	0	0	0	1	0	0	0	10063	768	27	1	8734	1	MYO15A	17	18059601	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	57959	18059601	63135609	7253	28178											
LLGL1	3996	broad.mit.edu	37	chr17	18137432	18137432	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attggctacagccggggcctGctggtcatctggaaccaggc	7	8	14	12	1	2	0	1	0	1	0	2	1	2	1	3	6	4	2	3	6	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18137432G>A	ENST00000316843.4	+	6	753	c.657G>A	c.(655-657)ctG>ctA	p.L219L		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	219					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCCGGGGCCTGCTGGTCATCT	0.627																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(655-657)ctG>ctA		lethal giant larvae homolog 1 (Drosophila)							34	39	37					17																	18137432		2203	4300	6503	SO:0001819	synonymous_variant	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18137432G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.657G>A	17.37:g.18137432G>A							p.L219L	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			6	753	+	all_neural(463;0.228)		219					A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	c.657G>A	CCDS32586.1																																																																																				0.627	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			4	17	0	0	0	1	0	4	17					A	18137432	G	A	18137432	2	1	435	1	0	0	0	0	0	0	0	1	8833	1306	46	3		3	LLGL1	17	18137432	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	77831	18137432	63057778	7254	28179											
LLGL1	3996	broad.mit.edu	37	chr17	18139975	18139975	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgggtgtggcgctgcggccGctctataagctgagcacagc	6	8	15	12	4	1	1	0	1	1	0	2	1	1	1	1	3	4	4	1	3	2	2	rs137941953	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18139975G>A	ENST00000316843.4	+	12	1503	c.1407G>A	c.(1405-1407)ccG>ccA	p.P469P		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	469					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CGCTGCGGCCGCTCTATAAGC	0.662																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1405-1407)ccG>ccA		lethal giant larvae homolog 1 (Drosophila)		G		0,4406		0,0,2203	48	46	47		1407	-11.8	0	17	dbSNP_134	47	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LLGL1	NM_004140.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		469/1065	18139975	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18139975G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1407G>A	17.37:g.18139975G>A							p.P469P	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			12	1503	+	all_neural(463;0.228)		469					A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	c.1407G>A	CCDS32586.1																																																																																				0.662	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			15	13	0	0	0	1	0	15	13					A	18139975	G	A	18139975	2	1	435	1	0	0	0	0	0	0	0	1	8833	1074	38	1		1	LLGL1	17	18139975	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2543	18139975	63055235	7255	28180											
LLGL1	3996	broad.mit.edu	37	chr17	18141473	18141473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgcgccagtctttccggcGcattcgcaagagtcgtgtct	6	11	11	13	5	2	1	0	0	2	1	5	1	3	1	2	1	1	2	2	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18141473G>A	ENST00000316843.4	+	15	2093	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	666					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					TCTTTCCGGCGCATTCGCAAG	0.617																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1996-1998)cGc>cAc		lethal giant larvae homolog 1 (Drosophila)							46	45	46					17																	18141473		2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18141473G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1997G>A	17.37:g.18141473G>A	ENSP00000321537:p.Arg666His						p.R666H	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			15	2093	+	all_neural(463;0.228)		666					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.1997G>A	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	36	5.856614	0.97030	.	.	ENSG00000131899	ENST00000316843	T	0.53640	0.61	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.74481	0.3722	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76526	-0.2927	10	0.66056	D	0.02	-31.1795	20.3206	0.98668	0.0:0.0:1.0:0.0	.	666	Q15334	L2GL1_HUMAN	H	666	ENSP00000321537:R666H	ENSP00000321537:R666H	R	+	2	0	LLGL1	18082198	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.490000	0.97952	2.813000	0.96785	0.561000	0.74099	CGC		0.617	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			8	24	0	0	0	1	0	8	24					A	18141473	G	A	18141473	3	1	435	1	0	0	0	0	1	0	0	0	8833	1087	38	1	2055	1	LLGL1	17	18141473	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1498	18141473	63053737	7256	28181											
LLGL1	3996	broad.mit.edu	37	chr17	18141892	18141892	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgtcgggtgtcgtgcgttgCctatactttgccgacacatt	5	15	11	10	4	0	0	0	0	0	0	2	1	0	0	2	1	4	1	2	1	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18141892C>T	ENST00000316843.4	+	16	2271	c.2175C>T	c.(2173-2175)tgC>tgT	p.C725C		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	725					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					TCGTGCGTTGCCTATACTTTG	0.652																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(2173-2175)tgC>tgT		lethal giant larvae homolog 1 (Drosophila)							57	47	50					17																	18141892		2203	4300	6503	SO:0001819	synonymous_variant	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18141892C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2175C>T	17.37:g.18141892C>T							p.C725C	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			16	2271	+	all_neural(463;0.228)		725					A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	c.2175C>T	CCDS32586.1																																																																																				0.652	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			4	41	0	0	0	1	0	4	41					T	18141892	C	T	18141892	2	4	435	1	0	0	0	0	0	0	0	1	8833	747	26	3		3	LLGL1	17	18141892	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	419	18141892	63053318	7257	28182											
LLGL1	3996	broad.mit.edu	37	chr17	18144821	18144821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagctgacggcccatgaGggctgtcgtgtgcgcaaggt	7	9	15	10	3	1	2	1	2	0	0	2	2	1	2	1	3	2	3	1	3	2	1	rs56406965		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18144821G>T	ENST00000316843.4	+	18	2655	c.2559G>T	c.(2557-2559)gaG>gaT	p.E853D		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	853					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CGGCCCATGAGGGCTGTCGTG	0.627																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(2557-2559)gaG>gaT		lethal giant larvae homolog 1 (Drosophila)							66	49	55					17																	18144821		2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18144821G>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2559G>T	17.37:g.18144821G>T	ENSP00000321537:p.Glu853Asp						p.E853D	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			18	2655	+	all_neural(463;0.228)		853					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.2559G>T	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267702	0.40095	.	.	ENSG00000131899	ENST00000316843	T	0.35048	1.33	5.69	2.11	0.27256	.	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	L	0.38838	1.175	0.54753	D	0.999985	P	0.46706	0.883	B	0.34346	0.18	T	0.03534	-1.1027	10	0.25106	T	0.35	-30.0797	9.0371	0.36293	0.3401:0.0:0.6599:0.0	.	853	Q15334	L2GL1_HUMAN	D	853	ENSP00000321537:E853D	ENSP00000321537:E853D	E	+	3	2	LLGL1	18085546	0.998000	0.40836	0.994000	0.49952	0.919000	0.55068	0.533000	0.23082	0.176000	0.19873	-0.150000	0.13652	GAG		0.627	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			6	11	1	0	0.248553	1	0.248844	6	11					T	18144821	G	T	18144821	3	4	435	1	0	0	0	0	1	0	0	0	8833	991	35	5	2629	5	LLGL1	17	18144821	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2929	18144821	63050389	7258	28183											
FLII	2314	broad.mit.edu	37	chr17	18148550	18148550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcgcagccggcgcggccGctcatgttccttggaccgca	5	6	14	16	6	1	0	1	0	0	0	2	1	2	1	4	4	1	4	4	4	0	2	rs138406094	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18148550G>A	ENST00000327031.4	-	30	3937	c.3712C>T	c.(3712-3714)Cgg>Tgg	p.R1238W	FLII_ENST00000379450.4_Missense_Mutation_p.R1152W|FLII_ENST00000579294.1_Missense_Mutation_p.R1227W|FLII_ENST00000578558.1_Silent_p.S647S|FLII_ENST00000545457.2_Missense_Mutation_p.R1183W	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1238					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			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)					CGGCGCGGCCGCTCATGTTCC	0.657													G|||	2	0.000399361	8e-04	0	5008	,	,		19479	0		0	False		,,,				2504	0.001					ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(3712-3714)Cgg>Tgg		flightless I homolog (Drosophila)		G	TRP/ARG	0,4406		0,0,2203	86	89	88		3712	1.9	0.5	17	dbSNP_134	88	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FLII	NM_002018.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1238/1270	18148550	2,13004	2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18148550G>A	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3712C>T	17.37:g.18148550G>A	ENSP00000324573:p.Arg1238Trp					FLII_ENST00000379450.4_Missense_Mutation_p.R1152W|FLII_ENST00000578558.1_Silent_p.S647S|FLII_ENST00000545457.2_Missense_Mutation_p.R1183W|FLII_ENST00000579294.1_Missense_Mutation_p.R1227W	p.R1238W	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			30	3937	-	all_neural(463;0.228)		1238					B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.3712C>T	CCDS11192.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.96	2.987534	0.53934	0.0	2.33E-4	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.27256	1.68;1.68	5.3	1.85	0.25348	Gelsolin domain (1);	0.650620	0.15109	N	0.280061	T	0.44787	0.1310	M	0.72624	2.21	0.24891	N	0.99217	D;D;D;D	0.64830	0.974;0.974;0.994;0.957	B;B;P;B	0.59761	0.438;0.438;0.863;0.326	T	0.36625	-0.9740	10	0.87932	D	0	-5.0468	13.8086	0.63248	0.0:0.0:0.6185:0.3814	.	1152;1152;1238;1207	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	W	1238;1117;1152	ENSP00000324573:R1238W;ENSP00000368763:R1152W	ENSP00000324573:R1238W	R	-	1	2	FLII	18089275	0.778000	0.28640	0.499000	0.27577	0.014000	0.08584	3.571000	0.53841	1.227000	0.43598	0.655000	0.94253	CGG		0.657	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		58	55	0	0	0	1	0	58	55					A	18148550	G	A	18148550	3	1	435	1	0	0	0	0	1	0	0	0	5925	1086	38	1	101	1	FLII	17	18148550	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3729	18148550	63046660	7259	28184											
SMCR7	125170	broad.mit.edu	37	chr17	18167383	18167383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgagggaccctcgctgctggGccgtgcgcaggacgcagctt	5	6	16	14	5	0	0	0	0	0	0	1	3	0	2	2	3	3	5	2	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18167383G>A	ENST00000323019.4	+	4	881	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	MIEF2_ENST00000395706.2_Missense_Mutation_p.A235T|MIEF2_ENST00000577216.1_3'UTR|MIEF2_ENST00000395704.4_Missense_Mutation_p.G199D	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	224					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											TCGCTGCTGGGCCGTGCGCAG	0.711																																						ENST00000323019.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(670-672)Gcc>Acc									8	7	7					17																	18167383		2142	4229	6371	SO:0001583	missense	0					integral to membrane	protein binding	g.chr17:18167383G>A	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"Smith-Magenis syndrome chromosome region, candidate 7"	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.670G>A	17.37:g.18167383G>A	ENSP00000323591:p.Ala224Thr					SMCR7_ENST00000577216.1_3'UTR|SMCR7_ENST00000395706.2_Missense_Mutation_p.A235T|SMCR7_ENST00000395704.4_Missense_Mutation_p.G199D	p.A224T	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	881	+	all_neural(463;0.228)		224					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.670G>A	CCDS11193.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.79|12.79	2.044333|2.044333	0.36085|0.36085	.|.	.|.	ENSG00000177427|ENSG00000177427	ENST00000323019;ENST00000395706|ENST00000395704	T;T|T	0.11712|0.38401	2.75;2.75|1.14	5.32|5.32	3.31|3.31	0.37934|0.37934	.|.	0.140660|.	0.64402|.	D|.	0.000010|.	T|T	0.23727|0.23727	0.0574|0.0574	.|.	.|.	.|.	0.35748|0.35748	D|D	0.819236|0.819236	P|B	0.44734|0.18013	0.842|0.025	B|B	0.36922|0.18561	0.236|0.022	T|T	0.36114|0.36114	-0.9761|-0.9761	9|8	0.72032|0.87932	D|D	0.01|0	-18.9471|-18.9471	0.8442|0.8442	0.01157|0.01157	0.2081:0.1999:0.3871:0.2049|0.2081:0.1999:0.3871:0.2049	.|.	224|199	Q96C03|Q96C03-2	MID49_HUMAN|.	T|D	224;235|199	ENSP00000323591:A224T;ENSP00000379057:A235T|ENSP00000379056:G199D	ENSP00000323591:A224T|ENSP00000379056:G199D	A|G	+|+	1|2	0|0	SMCR7|SMCR7	18108108|18108108	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.941000|0.941000	0.58515|0.58515	2.150000|2.150000	0.42254|0.42254	1.219000|1.219000	0.43474|0.43474	-0.311000|-0.311000	0.09066|0.09066	GCC|GGC		0.711	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		4	2	0	0	0	1	0	4	2					A	18167383	G	A	18167383	3	1	435	1	0	0	0	0	1	0	0	0	14790	1203	42	3	717	3	SMCR7	17	18167383	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18833	18167383	63027827	7260	28185											
SMCR7	125170	broad.mit.edu	37	chr17	18167674	18167674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accgcctcctcttggcctggCccctggaggggctggcgggg	2	7	17	15	2	1	0	0	0	1	0	2	1	2	1	6	8	0	1	6	8	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18167674C>T	ENST00000323019.4	+	4	1172	c.961C>T	c.(961-963)Ccc>Tcc	p.P321S	MIEF2_ENST00000395706.2_Missense_Mutation_p.P332S|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	321					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											CTTGGCCTGGCCCCTGGAGGG	0.677																																						ENST00000323019.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(961-963)Ccc>Tcc									53	60	57					17																	18167674		2203	4299	6502	SO:0001583	missense	0					integral to membrane	protein binding	g.chr17:18167674C>T	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"Smith-Magenis syndrome chromosome region, candidate 7"	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.961C>T	17.37:g.18167674C>T	ENSP00000323591:p.Pro321Ser					SMCR7_ENST00000395706.2_Missense_Mutation_p.P332S|SMCR7_ENST00000395704.4_3'UTR	p.P321S	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	1172	+	all_neural(463;0.228)		321					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.961C>T	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249151	0.59103	.	.	ENSG00000177427	ENST00000323019;ENST00000395706	T;T	0.12774	2.66;2.65	5.45	5.45	0.79879	.	0.230429	0.45867	D	0.000332	T	0.31136	0.0787	L	0.55743	1.74	0.33238	D	0.556894	D	0.69078	0.997	D	0.67382	0.951	T	0.27806	-1.0063	10	0.46703	T	0.11	-35.6981	14.9465	0.71035	0.1435:0.8565:0.0:0.0	.	321	Q96C03	MID49_HUMAN	S	321;332	ENSP00000323591:P321S;ENSP00000379057:P332S	ENSP00000323591:P321S	P	+	1	0	SMCR7	18108399	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.539000	0.53604	2.565000	0.86533	0.462000	0.41574	CCC		0.677	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		14	78	0	0	0	1	0	14	78					T	18167674	C	T	18167674	3	4	435	1	0	0	0	0	1	0	0	0	14790	739	26	3	1008	3	SMCR7	17	18167674	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	291	18167674	63027536	7261	28186											
TOP3A	7156	broad.mit.edu	37	chr17	18181522	18181522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactggttagcctgcaggCggccagagggctggctagcc	6	6	18	11	1	0	1	0	0	0	1	0	2	0	2	3	6	3	4	3	6	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18181522C>T	ENST00000321105.5	-	18	2508	c.2294G>A	c.(2293-2295)cGc>cAc	p.R765H	TOP3A_ENST00000542570.1_Missense_Mutation_p.R670H|TOP3A_ENST00000540524.1_Missense_Mutation_p.R295H	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	765					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						AGCCTGCAGGCGGCCAGAGGG	0.632																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(2293-2295)cGc>cAc		topoisomerase (DNA) III alpha							43	51	48					17																	18181522		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18181522C>T	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2294G>A	17.37:g.18181522C>T	ENSP00000321636:p.Arg765His					TOP3A_ENST00000542570.1_Missense_Mutation_p.R670H|TOP3A_ENST00000540524.1_Missense_Mutation_p.R295H	p.R765H	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			18	2508	-			765					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.2294G>A	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	C	3.292	-0.144839	0.06627	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.11930	3.1;2.73;3.1	5.55	2.06	0.26882	.	0.597078	0.18889	N	0.128352	T	0.02533	0.0077	N	0.00436	-1.5	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.01281	0.0;0.0	T	0.40794	-0.9544	10	0.15066	T	0.55	-5.3983	2.6725	0.05071	0.1197:0.134:0.1247:0.6216	.	670;765	B4DK80;Q13472	.;TOP3A_HUMAN	H	765;295;670	ENSP00000321636:R765H;ENSP00000446425:R295H;ENSP00000442336:R670H	ENSP00000321636:R765H	R	-	2	0	TOP3A	18122247	0.955000	0.32602	0.838000	0.33150	0.042000	0.13812	1.224000	0.32539	0.061000	0.16311	-1.328000	0.01277	CGC		0.632	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			11	55	0	0	0	1	0	11	55					T	18181522	C	T	18181522	3	4	435	1	0	0	0	0	1	0	0	0	16364	768	27	1	719	1	TOP3A	17	18181522	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13848	18181522	63013688	7262	28187											
ZNF286B	729288	broad.mit.edu	37	chr17	18566140	18566140	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcattaagtttgatttttGtttcaagcttttttcaagtg	8	23	6	4	0	3	1	3	1	0	0	3	1	3	1	0	0	1	3	0	0	3	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18566140G>A	ENST00000545289.1	-	5	929	c.679C>T	c.(679-681)Caa>Taa	p.Q227*	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						TTTGATTTTTGTTTCAAGCTT	0.343																																						ENST00000545289.1																			0				endometrium(1)|lung(1)	2						c.(679-681)Caa>Taa		zinc finger protein 286B							7	6	6					17																	18566140		677	1537	2214	SO:0001587	stop_gained	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18566140G>A		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"Zinc fingers, C2H2-type"	33241	protein-coding gene	gene with protein product	"zinc finger protein 590"		"zinc finger protein 286-like", "zinc finger 286C pseudogene"	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.679C>T	17.37:g.18566140G>A	ENSP00000461413:p.Gln227*						p.Q227*	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN			5	929	-			227						Nonsense_Mutation	SNP	ENST00000545289.1	37	c.679C>T	CCDS58523.1																																																																																				0.343	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		16	10	0	0	0	1	0	16	10					A	18566140	G	A	18566140	4	1	435	1	0	0	0	0	0	1	0	0	17821	1386	48	3	893	3	ZNF286B	17	18566140	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	384618	18566140	62629070	7263	28188											
ZNF286B	729288	broad.mit.edu	37	chr17	18566346	18566346	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctaaccaattttcacatTcaagggctgcttccaagtta	11	14	5	11	0	3	0	2	0	1	0	5	0	4	0	2	1	2	3	2	1	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18566346T>C	ENST00000545289.1	-	5	723	c.473A>G	c.(472-474)gAa>gGa	p.E158G	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						ATTTTCACATTCAAGGGCTGC	0.403																																						ENST00000545289.1																			0				endometrium(1)|lung(1)	2						c.(472-474)gAa>gGa		zinc finger protein 286B							155	124	133					17																	18566346		692	1591	2283	SO:0001583	missense	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18566346T>C		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"Zinc fingers, C2H2-type"	33241	protein-coding gene	gene with protein product	"zinc finger protein 590"		"zinc finger protein 286-like", "zinc finger 286C pseudogene"	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.473A>G	17.37:g.18566346T>C	ENSP00000461413:p.Glu158Gly						p.E158G	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN			5	723	-			158						Missense_Mutation	SNP	ENST00000545289.1	37	c.473A>G	CCDS58523.1																																																																																				0.403	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		4	79	0	0	0	1	0	4	79					C	18566346	T	C	18566346	3	2	435	1	0	0	0	0	1	0	0	0	17821	1783	62	4	1099	4	ZNF286B	17	18566346	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	206	18566346	62628864	7264	28189											
ZNF286B	729288	broad.mit.edu	37	chr17	18566500	18566500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgaaggacattggaaatGcaaatttccttcgttttctg	10	15	9	7	1	2	1	0	1	2	0	4	3	3	3	1	2	1	2	1	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18566500G>A	ENST00000545289.1	-	5	569	c.319C>T	c.(319-321)Cat>Tat	p.H107Y	ZNF286B_ENST00000285274.5_Missense_Mutation_p.A56V	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						CATTGGAAATGCAAATTTCCT	0.393																																						ENST00000545289.1																			0				endometrium(1)|lung(1)	2						c.(319-321)Cat>Tat		zinc finger protein 286B							99	78	84					17																	18566500		692	1591	2283	SO:0001583	missense	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18566500G>A		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"Zinc fingers, C2H2-type"	33241	protein-coding gene	gene with protein product	"zinc finger protein 590"		"zinc finger protein 286-like", "zinc finger 286C pseudogene"	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.319C>T	17.37:g.18566500G>A	ENSP00000461413:p.His107Tyr						p.H107Y	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN			5	569	-			107						Missense_Mutation	SNP	ENST00000545289.1	37	c.319C>T	CCDS58523.1																																																																																				0.393	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		15	31	0	0	0	1	0	15	31					A	18566500	G	A	18566500	3	1	435	1	0	0	0	0	1	0	0	0	17821	1319	46	3	1253	3	ZNF286B	17	18566500	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	154	18566500	62628710	7265	28190											
FAM18B	51030	broad.mit.edu	37	chr17	18694224	18694224	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagacatccagtagcatcGtttttccacttattctttcg	8	17	5	11	2	2	1	1	0	1	1	6	1	4	1	2	0	1	3	2	0	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18694224G>A	ENST00000307767.8	+	3	410	c.111G>A	c.(109-111)tcG>tcA	p.S37S	TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000574226.1_Silent_p.S37S|TVP23B_ENST00000476139.1_5'UTR	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	37						integral component of membrane (GO:0016021)											CAGTAGCATCGTTTTTCCACT	0.373																																						ENST00000307767.8																			0											c.(109-111)tcG>tcA		trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)							129	129	129					17																	18694224		2203	4300	6503	SO:0001819	synonymous_variant	51030							g.chr17:18694224G>A	AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B", "family with sequence similarity 18, member B1"	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.111G>A	17.37:g.18694224G>A						TVP23B_ENST00000574226.1_Silent_p.S37S|TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000476139.1_5'UTR	p.S37S	NM_016078.4	NP_057162.4					3	410	+								A8K448|Q96HK5|Q9Y3E6	Silent	SNP	ENST00000307767.8	37	c.111G>A	CCDS42274.1																																																																																				0.373	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078		5	150	0	0	0	1	0	5	150					A	18694224	G	A	18694224	2	1	435	1	0	0	0	0	0	0	0	1	5519	1132	40	1		1	FAM18B	17	18694224	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	127724	18694224	62500986	7266	28191											
SLC5A10	125206	broad.mit.edu	37	chr17	18855617	18855617	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttgctctgaatgtggcCgtgggcatatgggtaagggg	7	13	16	5	1	1	1	0	1	1	0	1	1	1	1	1	5	1	3	1	5	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18855617C>T	ENST00000395645.3	+	1	117	c.99C>T	c.(97-99)gcC>gcT	p.A33A	SLC5A10_ENST00000417251.2_Silent_p.A33A|SLC5A10_ENST00000395643.2_Silent_p.A33A|SLC5A10_ENST00000395647.2_Silent_p.A33A|AC090286.4_ENST00000354432.3_RNA|SLC5A10_ENST00000395642.1_5'UTR|SLC5A10_ENST00000317977.6_Intron	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	33					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TGAATGTGGCCGTGGGCATAT	0.612																																						ENST00000395647.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(97-99)gcC>gcT		solute carrier family 5 (sodium/sugar cotransporter), member 10																																				SO:0001819	synonymous_variant	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18855617C>T		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.99C>T	17.37:g.18855617C>T						SLC5A10_ENST00000395645.3_Silent_p.A33A|AC090286.4_ENST00000354432.3_RNA|SLC5A10_ENST00000417251.2_Silent_p.A33A|SLC5A10_ENST00000395642.1_5'UTR|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Silent_p.A33A	p.A33A	NM_152351.3	NP_689564.3	A0PJK1	SC5AA_HUMAN			1	140	+			33					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	c.99C>T	CCDS42275.1																																																																																				0.612	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		4	0	0	0	0	1	0	4	0					T	18855617	C	T	18855617	2	4	435	1	0	0	0	0	0	0	0	1	14662	639	23	2		2	SLC5A10	17	18855617	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	161393	18855617	62339593	7267	28192											
SLC5A10	125206	broad.mit.edu	37	chr17	18872438	18872438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctctccaccatcctcaCgctcggcatcacagccctgt	7	9	5	20	2	3	0	2	0	1	0	6	0	4	0	5	1	2	2	5	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18872438C>T	ENST00000395645.3	+	6	545	c.527C>T	c.(526-528)aCg>aTg	p.T176M	SLC5A10_ENST00000395643.2_Missense_Mutation_p.T176M|SLC5A10_ENST00000317977.6_Missense_Mutation_p.T120M|SLC5A10_ENST00000395642.1_Missense_Mutation_p.T120M|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395647.2_Missense_Mutation_p.T176M|SLC5A10_ENST00000417251.2_Missense_Mutation_p.T176M	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	176					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						ACCATCCTCACGCTCGGCATC	0.627																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(358-360)aCg>aTg		solute carrier family 5 (sodium/sugar cotransporter), member 10							143	108	120					17																	18872438		2203	4300	6503	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18872438C>T		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.527C>T	17.37:g.18872438C>T	ENSP00000379007:p.Thr176Met					FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395645.3_Missense_Mutation_p.T176M|SLC5A10_ENST00000417251.2_Missense_Mutation_p.T176M|SLC5A10_ENST00000395642.1_Missense_Mutation_p.T120M|SLC5A10_ENST00000395643.2_Missense_Mutation_p.T176M|SLC5A10_ENST00000395647.2_Missense_Mutation_p.T176M	p.T120M			A0PJK1	SC5AA_HUMAN			6	930	+			176					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.359C>T	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675622	0.47781	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.90261	-2.64;-2.3;-2.64;-2.3;-2.3;-2.29	4.82	3.78	0.43462	.	0.084772	0.85682	N	0.000000	T	0.73938	0.3651	N	0.02674	-0.535	0.80722	D	1	B;B;B;B;B	0.17268	0.003;0.002;0.003;0.009;0.021	B;B;B;B;B	0.12156	0.003;0.001;0.003;0.004;0.007	T	0.66204	-0.5982	10	0.46703	T	0.11	.	4.9853	0.14187	0.0:0.1931:0.0:0.8069	.	176;176;176;176;120	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	M	120;176;120;176;176;176	ENSP00000324346:T120M;ENSP00000379008:T176M;ENSP00000379004:T120M;ENSP00000401875:T176M;ENSP00000379007:T176M;ENSP00000379005:T176M	ENSP00000324346:T120M	T	+	2	0	SLC5A10	18813163	1.000000	0.71417	0.998000	0.56505	0.853000	0.48598	4.811000	0.62606	0.960000	0.38005	0.462000	0.41574	ACG		0.627	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		9	19	0	0	0	1	0	9	19					T	18872438	C	T	18872438	3	4	435	1	0	0	0	0	1	0	0	0	14662	536	19	1	549	1	SLC5A10	17	18872438	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16821	18872438	62322772	7268	28193											
FAM83G	644815	broad.mit.edu	37	chr17	18874781	18874781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcttcgactgagacagtttgGagtatgggattccgaaggga	10	10	15	6	2	0	1	0	1	0	1	2	7	1	4	1	3	0	3	1	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18874781G>A	ENST00000388995.6	-	6	2586	c.2363C>T	c.(2362-2364)tCc>tTc	p.S788F	FAM83G_ENST00000585154.2_Missense_Mutation_p.S788F|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.S788F|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	788					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						AGACAGTTTGGAGTATGGGAT	0.627																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(2362-2364)tCc>tTc		family with sequence similarity 83, member G							96	107	104					17																	18874781		2053	4174	6227	SO:0001583	missense	644815							g.chr17:18874781G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2363C>T	17.37:g.18874781G>A	ENSP00000373647:p.Ser788Phe					SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.S788F|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.S788F	p.S788F			A6ND36	FA83G_HUMAN			6	2586	-			788					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.2363C>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241192	0.79912	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.25579	1.79;1.79	5.35	5.35	0.76521	.	0.131736	0.52532	D	0.000065	T	0.54334	0.1852	M	0.74258	2.255	0.41694	D	0.989365	D	0.89917	1.0	D	0.87578	0.998	T	0.57312	-0.7833	10	0.72032	D	0.01	-50.4135	19.4294	0.94758	0.0:0.0:1.0:0.0	.	788	A6ND36	FA83G_HUMAN	F	788	ENSP00000373647:S788F;ENSP00000343279:S788F	ENSP00000343279:S788F	S	-	2	0	FAM83G	18815506	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.585000	0.82584	2.667000	0.90743	0.561000	0.74099	TCC		0.627	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			12	97	0	0	0	1	0	12	97					A	18874781	G	A	18874781	3	1	435	1	0	0	0	0	1	0	0	0	5639	1174	41	3	112	3	FAM83G	17	18874781	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2343	18874781	62320429	7269	28194											
FAM83G	644815	broad.mit.edu	37	chr17	18882884	18882884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaggagccgcacacagcccGgtctccatccacaaacatga	12	5	9	15	2	1	1	0	1	1	0	3	2	2	2	4	2	3	2	4	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18882884G>A	ENST00000388995.6	-	4	1016	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	FAM83G_ENST00000585154.2_Missense_Mutation_p.R265W|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R265W|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	265					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CACACAGCCCGGTCTCCATCC	0.582																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(793-795)Cgg>Tgg		family with sequence similarity 83, member G							51	62	58					17																	18882884		2010	4171	6181	SO:0001583	missense	644815							g.chr17:18882884G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.793C>T	17.37:g.18882884G>A	ENSP00000373647:p.Arg265Trp					SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R265W|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R265W	p.R265W			A6ND36	FA83G_HUMAN			4	1016	-			265					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.793C>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091069	0.76756	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	T;T	0.22134	1.97;1.97	5.54	3.46	0.39613	.	0.117593	0.56097	D	0.000038	T	0.43478	0.1249	M	0.65975	2.015	0.39746	D	0.971827	D	0.89917	1.0	D	0.79784	0.993	T	0.50996	-0.8761	10	0.87932	D	0	-37.3884	13.9909	0.64367	0.0:0.0:0.491:0.509	.	265	A6ND36	FA83G_HUMAN	W	265	ENSP00000373647:R265W;ENSP00000343279:R265W	ENSP00000343279:R265W	R	-	1	2	FAM83G	18823609	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.186000	0.42593	1.328000	0.45358	0.655000	0.94253	CGG		0.582	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			12	15	0	0	0	1	0	12	15					A	18882884	G	A	18882884	3	1	435	1	0	0	0	0	1	0	0	0	5639	1115	39	2	1690	2	FAM83G	17	18882884	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8103	18882884	62312326	7270	28195											
SLC5A10	125206	broad.mit.edu	37	chr17	18918411	18918411	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcggcgctcatgtcgtcGctgacctccatcttcaacag	6	10	10	15	4	3	1	2	1	1	0	6	1	4	1	2	2	1	2	2	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18918411G>A	ENST00000395645.3	+	11	1158	c.1140G>A	c.(1138-1140)tcG>tcA	p.S380S	SLC5A10_ENST00000417251.2_Silent_p.S344S|SLC5A10_ENST00000395643.2_Silent_p.S353S|SLC5A10_ENST00000395647.2_Silent_p.S396S|SLC5A10_ENST00000395642.1_Silent_p.S313S|SLC5A10_ENST00000317977.6_Silent_p.S313S	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	380					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TCATGTCGTCGCTGACCTCCA	0.667																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(937-939)tcG>tcA		solute carrier family 5 (sodium/sugar cotransporter), member 10							60	48	52					17																	18918411		2203	4300	6503	SO:0001819	synonymous_variant	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18918411G>A		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1140G>A	17.37:g.18918411G>A						SLC5A10_ENST00000395645.3_Silent_p.S380S|SLC5A10_ENST00000417251.2_Silent_p.S344S|SLC5A10_ENST00000395642.1_Silent_p.S313S|SLC5A10_ENST00000395643.2_Silent_p.S353S|SLC5A10_ENST00000395647.2_Silent_p.S396S	p.S313S			A0PJK1	SC5AA_HUMAN			10	1510	+			380					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	c.939G>A	CCDS42275.1																																																																																				0.667	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		16	23	0	0	0	1	0	16	23					A	18918411	G	A	18918411	2	1	435	1	0	0	0	0	0	0	0	1	14662	1074	38	1		1	SLC5A10	17	18918411	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	35527	18918411	62276799	7271	28196											
SLC5A10	125206	broad.mit.edu	37	chr17	18923680	18923680	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgccttctgggcccgtgTctgtggcttcaatgccatcc	5	11	10	15	2	3	0	1	0	2	0	4	0	4	0	4	2	1	1	4	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18923680T>C	ENST00000395645.3	+	15	1745	c.1727T>C	c.(1726-1728)gTc>gCc	p.V576A	SLC5A10_ENST00000417251.2_Missense_Mutation_p.V540A|SLC5A10_ENST00000395643.2_Missense_Mutation_p.V549A|SLC5A10_ENST00000395647.2_Missense_Mutation_p.V592A|SLC5A10_ENST00000395642.1_Missense_Mutation_p.V546A|SLC5A10_ENST00000317977.6_Missense_Mutation_p.V546A	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	576					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TGGGCCCGTGTCTGTGGCTTC	0.542																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(1636-1638)gTc>gCc		solute carrier family 5 (sodium/sugar cotransporter), member 10							154	130	138					17																	18923680		2203	4300	6503	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18923680T>C		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1727T>C	17.37:g.18923680T>C	ENSP00000379007:p.Val576Ala					SLC5A10_ENST00000395645.3_Missense_Mutation_p.V576A|SLC5A10_ENST00000417251.2_Missense_Mutation_p.V540A|SLC5A10_ENST00000395642.1_Missense_Mutation_p.V546A|SLC5A10_ENST00000395643.2_Missense_Mutation_p.V549A|SLC5A10_ENST00000395647.2_Missense_Mutation_p.V592A	p.V546A			A0PJK1	SC5AA_HUMAN			15	2208	+			576					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.1637T>C	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.830118	0.91036	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.91237	-2.81;-2.27;-2.81;-2.33;-2.19;-2.31	5.09	5.09	0.68999	.	0.055559	0.64402	D	0.000001	D	0.93436	0.7906	M	0.74258	2.255	0.45822	D	0.998699	P;P;P;D;D	0.56287	0.917;0.95;0.862;0.975;0.968	B;P;B;P;P	0.55391	0.214;0.775;0.445;0.775;0.747	D	0.93948	0.7229	10	0.59425	D	0.04	.	15.0368	0.71754	0.0:0.0:0.0:1.0	.	540;549;576;592;546	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	A	546;592;546;540;576;549	ENSP00000324346:V546A;ENSP00000379008:V592A;ENSP00000379004:V546A;ENSP00000401875:V540A;ENSP00000379007:V576A;ENSP00000379005:V549A	ENSP00000324346:V546A	V	+	2	0	SLC5A10	18864405	1.000000	0.71417	0.976000	0.42696	0.995000	0.86356	6.752000	0.74898	2.134000	0.65973	0.529000	0.55759	GTC		0.542	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		4	74	0	0	0	1	0	4	74					C	18923680	T	C	18923680	3	2	435	1	0	0	0	0	1	0	0	0	14662	1667	58	4	1833	4	SLC5A10	17	18923680	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	5269	18923680	62271530	7272	28197											
EPN2	22905	broad.mit.edu	37	chr17	19186472	19186472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggcagatgaaaaacatcGtgaacaattactcagaggca	17	6	10	8	2	1	4	1	2	0	2	2	5	1	4	0	2	3	2	0	2	5	1	rs138967323	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:19186472G>A	ENST00000314728.5	+	3	524	c.40G>A	c.(40-42)Gtg>Atg	p.V14M	EPN2_ENST00000395618.3_Intron|EPN2_ENST00000395626.1_Missense_Mutation_p.V14M|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000347697.2_Missense_Mutation_p.V14M|EPN2_ENST00000571254.1_Missense_Mutation_p.V14M|EPN2_ENST00000395620.2_Missense_Mutation_p.V14M	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	14	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			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)					GAAAAACATCGTGAACAATTA	0.463																																						ENST00000314728.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(40-42)Gtg>Atg		epsin 2		G	,MET/VAL,MET/VAL	0,4406		0,0,2203	65	70	69		,40,40	5.8	1	17	dbSNP_134	69	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense,missense	EPN2	NM_001102664.1,NM_014964.4,NM_148921.3	,21,21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,probably-damaging,probably-damaging	,14/642,14/585	19186472	2,13004	2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19186472G>A	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"Eps15 binding protein"	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.40G>A	17.37:g.19186472G>A	ENSP00000320543:p.Val14Met					EPN2_ENST00000395620.2_Missense_Mutation_p.V14M|EPN2_ENST00000571254.1_Missense_Mutation_p.V14M|EPN2_ENST00000395626.1_Missense_Mutation_p.V14M|EPN2_ENST00000395618.3_Intron|EPN2_ENST00000347697.2_Missense_Mutation_p.V14M|EPN2_ENST00000575595.1_Intron	p.V14M	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			3	524	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		14			ENTH.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.40G>A	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022079	0.93462	0.0	2.33E-4	ENSG00000072134	ENST00000347697;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.77	5.77	0.91146	ENTH/VHS (1);Epsin-like, N-terminal (1);	0.051341	0.85682	D	0.000000	T	0.72070	0.3415	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.962;0.999;0.999;0.982	D;D;P;D;D;P	0.87578	0.997;0.998;0.89;0.995;0.997;0.882	T	0.74185	-0.3747	10	0.87932	D	0	-24.8372	19.9873	0.97353	0.0:0.0:1.0:0.0	.	14;14;14;14;14;14	Q52LD0;B7ZKM5;E9PBC1;E7EMC3;E9PBC2;O95208	.;.;.;.;.;EPN2_HUMAN	M	14	ENSP00000261495:V14M;ENSP00000320543:V14M;ENSP00000378990:V14M;ENSP00000378982:V14M;ENSP00000378988:V14M	ENSP00000320543:V14M	V	+	1	0	EPN2	19127065	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.807000	0.99171	2.732000	0.93576	0.655000	0.94253	GTG		0.463	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		16	19	0	0	0	1	0	16	19					A	19186472	G	A	19186472	3	1	435	1	0	0	0	0	1	0	0	0	5186	1145	40	1	42	1	EPN2	17	19186472	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	262792	19186472	62008738	7273	28198											
EPN2	22905	broad.mit.edu	37	chr17	19232167	19232167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcttctgacgcgtggggcGcagtctccaccaccaagccc	7	6	12	16	3	2	1	0	1	2	0	3	2	2	1	4	2	2	2	4	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:19232167G>A	ENST00000314728.5	+	8	1775	c.1291G>A	c.(1291-1293)Gca>Aca	p.A431T	EPN2_ENST00000395618.3_Missense_Mutation_p.A146T|EPN2_ENST00000395626.1_Missense_Mutation_p.A431T|EPN2_ENST00000575595.1_Missense_Mutation_p.A139T|EPN2_ENST00000347697.2_Missense_Mutation_p.A374T|EPN2_ENST00000571254.1_Missense_Mutation_p.A367T|EPN2_ENST00000395620.2_Missense_Mutation_p.A374T	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	431	6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			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)					CGCGTGGGGCGCAGTCTCCAC	0.647																																						ENST00000314728.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(1291-1293)Gca>Aca		epsin 2							58	49	52					17																	19232167		2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19232167G>A	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"Eps15 binding protein"	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1291G>A	17.37:g.19232167G>A	ENSP00000320543:p.Ala431Thr					EPN2_ENST00000395620.2_Missense_Mutation_p.A374T|EPN2_ENST00000571254.1_Missense_Mutation_p.A367T|EPN2_ENST00000395626.1_Missense_Mutation_p.A431T|EPN2_ENST00000395618.3_Missense_Mutation_p.A146T|EPN2_ENST00000347697.2_Missense_Mutation_p.A374T|EPN2_ENST00000575595.1_Missense_Mutation_p.A139T	p.A431T	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			8	1775	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		431			6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.1291G>A	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353064	0.41700	.	.	ENSG00000072134	ENST00000347697;ENST00000395618;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T;T	0.33654	1.79;1.79;1.79;1.42;1.79;1.4	4.77	-0.445	0.12242	.	0.376195	0.30419	N	0.009664	T	0.33411	0.0862	M	0.77820	2.39	0.09310	N	1	P;B;D;D;P;P;P	0.54772	0.946;0.313;0.968;0.968;0.602;0.946;0.818	B;B;P;P;B;B;B	0.46076	0.23;0.054;0.503;0.503;0.121;0.23;0.242	T	0.24728	-1.0152	10	0.21014	T	0.42	-3.8718	3.552	0.07850	0.167:0.3241:0.4017:0.1071	.	374;367;139;146;431;374;431	Q52LD0;B7ZKM5;B7Z3A5;A8MTV8;E9PBC1;E9PBC2;O95208	.;.;.;.;.;.;EPN2_HUMAN	T	374;146;431;374;374;431	ENSP00000261495:A374T;ENSP00000378980:A146T;ENSP00000320543:A431T;ENSP00000378990:A374T;ENSP00000378982:A374T;ENSP00000378988:A431T	ENSP00000320543:A431T	A	+	1	0	EPN2	19172760	0.002000	0.14202	0.000000	0.03702	0.019000	0.09904	0.328000	0.19681	0.153000	0.19213	0.561000	0.74099	GCA		0.647	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		29	33	0	0	0	1	0	29	33					A	19232167	G	A	19232167	3	1	435	1	0	0	0	0	1	0	0	0	5186	1087	38	1	1313	1	EPN2	17	19232167	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	45695	19232167	61963043	7274	28199											
RNF112	7732	broad.mit.edu	37	chr17	19318461	19318461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtactggaacgaggggcgcGccgtggccaggggggacaga	8	3	21	9	4	0	1	0	0	0	1	0	4	0	3	2	8	2	1	2	8	2	1	rs377607213		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:19318461G>A	ENST00000461366.1	+	11	1452	c.1237G>A	c.(1237-1239)Gcc>Acc	p.A413T	CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	413						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGAGGGGCGCGCCGTGGCCAG	0.662																																						ENST00000461366.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(1237-1239)Gcc>Acc		ring finger protein 112		G	THR/ALA	1,3899		0,1,1949	26	31	29		1237	-3.5	0.5	17		29	0,8286		0,0,4143	no	missense	RNF112	NM_007148.4	58	0,1,6092	AA,AG,GG		0.0,0.0256,0.0082	benign	413/632	19318461	1,12185	1950	4143	6093	SO:0001583	missense	7732						GTP binding|GTPase activity|zinc ion binding	g.chr17:19318461G>A	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"RING-type (C3HC4) zinc fingers"	12968	protein-coding gene	gene with protein product		601237	"zinc finger protein 179"	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.1237G>A	17.37:g.19318461G>A	ENSP00000454919:p.Ala413Thr						p.A413T	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN			11	1452	+			413					O60633|Q7Z5V9	Missense_Mutation	SNP	ENST00000461366.1	37	c.1237G>A	CCDS58529.1																																																																																				0.662	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148		10	38	0	0	0	1	0	10	38					A	19318461	G	A	19318461	3	1	435	1	0	0	0	0	1	0	0	0	13426	1087	38	1	989	1	RNF112	17	19318461	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	86294	19318461	61876749	7275	28200											
ULK2	9706	broad.mit.edu	37	chr17	19699557	19699557	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaaggctaacaggttggaAgatgcttgagttttagggat	12	11	13	5	0	0	2	0	1	0	1	0	4	0	4	1	4	2	4	1	4	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:19699557A>T	ENST00000395544.4	-	19	2347	c.1848T>A	c.(1846-1848)tcT>tcA	p.S616S	ULK2_ENST00000580130.1_5'Flank|ULK2_ENST00000361658.2_Silent_p.S616S	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	616					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ACAGGTTGGAAGATGCTTGAG	0.413																																						ENST00000395544.4																			0				large_intestine(1)|skin(4)|stomach(1)	6						c.(1846-1848)tcT>tcA		unc-51 like autophagy activating kinase 2							88	84	86					17																	19699557		2203	4300	6503	SO:0001819	synonymous_variant	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19699557A>T	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"unc-51 (C. elegans)-like kinase 2", "unc-51-like kinase 2 (C. elegans)"			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1848T>A	17.37:g.19699557A>T						ULK2_ENST00000361658.2_Silent_p.S616S	p.S616S	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN			19	2347	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		616					A8MY69|O75119	Silent	SNP	ENST00000395544.4	37	c.1848T>A	CCDS11213.1																																																																																				0.413	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		31	51	0	0	0	1	0	31	51					T	19699557	A	T	19699557	2	4	435	1	0	0	0	0	0	0	0	1	16973	59	3	5		5	ULK2	17	19699557	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	381096	19699557	61495653	7276	28201											
ULK2	9706	broad.mit.edu	37	chr17	19705103	19705103	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttacccaaaggggaaggTgagtaaggcctagaagaccc	14	6	12	9	0	0	3	0	1	0	2	0	4	0	4	3	4	2	1	3	4	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:19705103T>C	ENST00000395544.4	-	16	1927	c.1428A>G	c.(1426-1428)tcA>tcG	p.S476S	ULK2_ENST00000580130.1_5'UTR|ULK2_ENST00000361658.2_Silent_p.S476S	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	476					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					AAGGGGAAGGTGAGTAAGGCC	0.473																																						ENST00000395544.4																			0				large_intestine(1)|skin(4)|stomach(1)	6						c.(1426-1428)tcA>tcG		unc-51 like autophagy activating kinase 2							147	146	146					17																	19705103		2203	4300	6503	SO:0001819	synonymous_variant	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19705103T>C	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"unc-51 (C. elegans)-like kinase 2", "unc-51-like kinase 2 (C. elegans)"			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1428A>G	17.37:g.19705103T>C						ULK2_ENST00000580130.1_5'UTR|ULK2_ENST00000361658.2_Silent_p.S476S	p.S476S	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN			16	1927	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		476					A8MY69|O75119	Silent	SNP	ENST00000395544.4	37	c.1428A>G	CCDS11213.1																																																																																				0.473	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		34	52	0	0	0	1	0	34	52					C	19705103	T	C	19705103	2	2	435	1	0	0	0	0	0	0	0	1	16973	1683	59	4		4	ULK2	17	19705103	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	5546	19705103	61490107	7277	28202											
ULK2	9706	broad.mit.edu	37	chr17	19750061	19750061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatttacctattttgatgCgaataccactgacacttgat	11	14	6	10	1	0	3	0	3	0	0	0	4	0	3	3	0	3	0	3	0	4	7	rs545490794		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:19750061C>T	ENST00000395544.4	-	6	957	c.458G>A	c.(457-459)cGc>cAc	p.R153H	ULK2_ENST00000361658.2_Missense_Mutation_p.R153H	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	153	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TATTTTGATGCGAATACCACT	0.373													C|||	1	0.000199681	0	0	5008	,	,		21035	0.001		0	False		,,,				2504	0					ENST00000395544.4																			0				large_intestine(1)|skin(4)|stomach(1)	6						c.(457-459)cGc>cAc		unc-51 like autophagy activating kinase 2							277	258	265					17																	19750061		2203	4300	6503	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19750061C>T	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"unc-51 (C. elegans)-like kinase 2", "unc-51-like kinase 2 (C. elegans)"			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.458G>A	17.37:g.19750061C>T	ENSP00000378914:p.Arg153His					ULK2_ENST00000361658.2_Missense_Mutation_p.R153H	p.R153H	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN			6	957	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		153			Protein kinase.		A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.458G>A	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897654	0.72639	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.23950	1.88;1.88	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	N	0.08118	0	0.80722	D	1	B	0.22211	0.066	B	0.17722	0.019	T	0.08597	-1.0714	10	0.27082	T	0.32	-16.6497	18.4836	0.90820	0.0:1.0:0.0:0.0	.	153	Q8IYT8	ULK2_HUMAN	H	153	ENSP00000354877:R153H;ENSP00000378914:R153H	ENSP00000354877:R153H	R	-	2	0	ULK2	19690653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.374000	0.79633	2.681000	0.91329	0.650000	0.86243	CGC		0.373	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		66	96	0	0	0	1	0	66	96					T	19750061	C	T	19750061	3	4	435	1	0	0	0	0	1	0	0	0	16973	768	27	1	2740	1	ULK2	17	19750061	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44958	19750061	61445149	7278	28203											
AKAP10	11216	broad.mit.edu	37	chr17	19827781	19827781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccgcatccacaattatcGcttcatcaaaatttttcagt	11	15	4	11	2	3	0	3	0	0	0	5	0	4	0	2	0	1	2	2	0	4	5	rs142084873		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:19827781G>A	ENST00000225737.6	-	11	1848	c.1691C>T	c.(1690-1692)gCg>gTg	p.A564V	AKAP10_ENST00000395536.3_Missense_Mutation_p.A506V	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	564					blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CACAATTATCGCTTCATCAAA	0.353																																						ENST00000225737.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1690-1692)gCg>gTg		A kinase (PRKA) anchor protein 10		G	VAL/ALA	4,4402	8.1+/-20.4	0,4,2199	68	70	69		1691	4.3	1	17	dbSNP_134	69	0,8600		0,0,4300	yes	missense	AKAP10	NM_007202.2	64	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	564/663	19827781	4,13002	2203	4300	6503	SO:0001583	missense	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19827781G>A	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"A-kinase anchor proteins"	368	protein-coding gene	gene with protein product	"dual-specificity A-kinase anchoring protein 2", "protein kinase A anchoring protein 10", "mitochondrial A kinase PPKA anchor protein 10"	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1691C>T	17.37:g.19827781G>A	ENSP00000225737:p.Ala564Val					AKAP10_ENST00000395536.3_Missense_Mutation_p.A506V	p.A564V	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN			11	1848	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		564					B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	37	c.1691C>T	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351133	0.82132	9.08E-4	0.0	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.32988	1.43	5.28	4.32	0.51571	.	0.048977	0.85682	N	0.000000	T	0.44993	0.1320	M	0.68317	2.08	0.49915	D	0.999839	B;B;D	0.76494	0.046;0.445;0.999	B;B;P	0.58331	0.008;0.03;0.837	T	0.35025	-0.9805	10	0.18276	T	0.48	-1.6037	12.8743	0.57982	0.0784:0.0:0.9216:0.0	.	506;506;564	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	V	564;506	ENSP00000225737:A564V	ENSP00000225737:A564V	A	-	2	0	AKAP10	19768373	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.609000	0.67661	1.232000	0.43678	-0.218000	0.12543	GCG		0.353	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		27	25	0	0	0	1	0	27	25					A	19827781	G	A	19827781	3	1	435	1	0	0	0	0	1	0	0	0	446	1087	38	1	317	1	AKAP10	17	19827781	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	77720	19827781	61367429	7279	28204											
CYTSB	92521	broad.mit.edu	37	chr17	20108894	20108894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttagaaatgattaaacGtctgaaggaagaaaatgaaa	20	9	9	3	1	1	5	0	3	1	2	1	6	1	6	0	1	2	1	0	1	9	3	rs572226219	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:20108894G>A	ENST00000261503.5	+	4	1583	c.1532G>A	c.(1531-1533)cGt>cAt	p.R511H	SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.R430H|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395525.3_Missense_Mutation_p.R430H|SPECC1_ENST00000395527.4_Missense_Mutation_p.R511H|SPECC1_ENST00000395530.2_Missense_Mutation_p.R430H|SPECC1_ENST00000584527.1_5'Flank|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395529.3_Missense_Mutation_p.R511H	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	511					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		ATGATTAAACGTCTGAAGGAA	0.398													g|||	2	0.000399361	8e-04	0.0014	5008	,	,		20369	0		0	False		,,,				2504	0					ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(1288-1290)cGt>cAt		sperm antigen with calponin homology and coiled-coil domains 1							66	70	68					17																	20108894		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20108894G>A	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.1532G>A	17.37:g.20108894G>A	ENSP00000261503:p.Arg511His					SPECC1_ENST00000395522.2_Missense_Mutation_p.R430H|SPECC1_ENST00000395529.3_Missense_Mutation_p.R511H|SPECC1_ENST00000395525.3_Missense_Mutation_p.R430H|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000261503.5_Missense_Mutation_p.R511H|SPECC1_ENST00000395527.4_Missense_Mutation_p.R511H|SPECC1_ENST00000536879.1_Intron	p.R430H	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	2	1497	+			511					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.1289G>A	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	g	5.839	0.339041	0.11069	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T;T	0.64085	-0.08;2.91;2.9;3.3;2.9	5.59	-4.7	0.03288	.	0.895994	0.10268	N	0.695195	T	0.26304	0.0642	N	0.01482	-0.84	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.001;0.002;0.001;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.27673	-1.0067	10	0.18710	T	0.47	0.0838	7.8413	0.29400	0.4209:0.0:0.4698:0.1093	.	511;430;430;511;511	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	H	511;511;511;430;430;430	ENSP00000261503:R511H;ENSP00000378900:R511H;ENSP00000378893:R430H;ENSP00000378898:R430H;ENSP00000378896:R430H	ENSP00000261503:R511H	R	+	2	0	SPECC1	20049486	0.000000	0.05858	0.000000	0.03702	0.257000	0.26127	0.123000	0.15708	-0.625000	0.05604	-0.119000	0.15052	CGT		0.398	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		22	32	0	0	0	1	0	22	32					A	20108894	G	A	20108894	3	1	435	1	0	0	0	0	1	0	0	0	4210	1145	40	1	1586	1	CYTSB	17	20108894	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	281113	20108894	61086316	7280	28205											
USP22	23326	broad.mit.edu	37	chr17	20924447	20924447	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcattttccaagcttttcGctgctcctccttggcgatta	5	17	7	12	2	0	0	0	0	0	0	4	1	3	0	3	1	3	4	3	1	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:20924447G>A	ENST00000261497.4	-	3	600	c.397C>T	c.(397-399)Cga>Tga	p.R133*	USP22_ENST00000537526.2_Nonsense_Mutation_p.R121*|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	133					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						CAAGCTTTTCGCTGCTCCTCC	0.478																																						ENST00000261497.4																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						c.(397-399)Cga>Tga		ubiquitin specific peptidase 22							91	93	93					17																	20924447		2017	4182	6199	SO:0001587	stop_gained	23326				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	g.chr17:20924447G>A	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"Ubiquitin-specific peptidases"	12621	protein-coding gene	gene with protein product		612116	"ubiquitin specific protease 22", "ubiquitin specific peptidase 3-like"	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.397C>T	17.37:g.20924447G>A	ENSP00000261497:p.Arg133*					USP22_ENST00000537526.2_Nonsense_Mutation_p.R121*|USP22_ENST00000455117.2_Intron	p.R133*	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN			3	600	-			133					A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Nonsense_Mutation	SNP	ENST00000261497.4	37	c.397C>T	CCDS42285.1	.	.	.	.	.	.	.	.	.	.	g	36	5.836369	0.97009	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	.	.	.	4.44	4.44	0.53790	.	0.132399	0.47852	D	0.000203	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	17.0541	0.86529	0.0:0.0:1.0:0.0	.	.	.	.	X	201;121;133	.	ENSP00000261497:R133X	R	-	1	2	USP22	20865039	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	3.991000	0.56973	1.991000	0.58162	0.563000	0.77884	CGA		0.478	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			12	22	0	0	0	1	0	12	22					A	20924447	G	A	20924447	4	1	435	1	0	0	0	0	0	1	0	0	17051	1095	38	1	1224	1	USP22	17	20924447	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	815553	20924447	60270763	7281	28206											
TMEM11	8834	broad.mit.edu	37	chr17	21101727	21101727	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctctttctgtgcaggtcGtccttccggaccagcaccac	6	11	9	15	2	2	0	0	0	2	0	6	1	4	1	4	2	2	2	4	2	0	2	rs150424039		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:21101727G>A	ENST00000317635.5	-	2	960	c.489C>T	c.(487-489)gaC>gaT	p.D163D	TMEM11_ENST00000584432.1_5'UTR	NM_003876.2	NP_003867.1	P17152	TMM11_HUMAN	transmembrane protein 11	163					mitochondrion organization (GO:0007005)	integral component of mitochondrial inner membrane (GO:0031305)|integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						TGTGCAGGTCGTCCTTCCGGA	0.537													G|||	1	0.000199681	0	0	5008	,	,		18875	0		0.001	False		,,,				2504	0					ENST00000317635.5																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(487-489)gaC>gaT		transmembrane protein 11							170	138	149					17																	21101727		2203	4300	6503	SO:0001819	synonymous_variant	8834				mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding	g.chr17:21101727G>A	BC002819	CCDS11216.1	17p11.1	2011-08-12	2005-09-08	2005-09-08		ENSG00000178307			16823	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 35"	C17orf35		2110658, 21274005	Standard	NM_003876		Approved	PMI, PM1	uc002gyp.2	P17152		ENST00000317635.5:c.489C>T	17.37:g.21101727G>A						TMEM11_ENST00000584432.1_5'UTR	p.D163D	NM_003876.2	NP_003867.1	P17152	TMM11_HUMAN			2	960	-			163					Q53YB2	Silent	SNP	ENST00000317635.5	37	c.489C>T	CCDS11216.1																																																																																				0.537	TMEM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444150.2	NM_003876		64	56	0	0	0	1	0	64	56					A	21101727	G	A	21101727	2	1	435	1	0	0	0	0	0	0	0	1	16023	1136	40	1		1	TMEM11	17	21101727	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	177280	21101727	60093483	7282	28207											
KCNJ12	3768	broad.mit.edu	37	chr17	21319298	21319298	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcctcatgtggcgtgTgggtaacctgcgcaagagcc	6	9	14	12	2	2	1	1	0	1	1	2	1	2	1	3	2	4	3	3	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:21319298T>C	ENST00000583088.1	+	3	1539	c.644T>C	c.(643-645)gTg>gCg	p.V215A	KCNJ12_ENST00000331718.5_Missense_Mutation_p.V215A	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	215					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	ATGTGGCGTGTGGGTAACCTG	0.652										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(643-645)gTg>gCg		potassium inwardly-rectifying channel, subfamily J, member 12							86	72	77					17																	21319298		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319298T>C	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.644T>C	17.37:g.21319298T>C	ENSP00000463778:p.Val215Ala	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.V215A	p.V215A	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1539	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.644T>C	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.343276	0.82022	.	.	ENSG00000184185	ENST00000331718	D	0.96168	-3.93	5.32	5.32	0.75619	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98802	1.0740	10	0.87932	D	0	.	15.2805	0.73781	0.0:0.0:0.0:1.0	.	215	Q14500	IRK12_HUMAN	A	215	ENSP00000328150:V215A	ENSP00000328150:V215A	V	+	2	0	KCNJ12	21259891	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.898000	0.87363	2.019000	0.59389	0.533000	0.62120	GTG		0.652	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		6	32	0	0	0	1	0	6	32					C	21319298	T	C	21319298	3	2	435	1	0	0	0	0	1	0	0	0	8046	1696	59	4	646	4	KCNJ12	17	21319298	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	217571	21319298	59875912	7283	28208											
KSR1	8844	broad.mit.edu	37	chr17	25932771	25932771	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgaactaccggcagacGcggcatgagaacgtggtgct	10	7	15	9	4	0	4	0	3	0	2	0	5	0	4	1	3	4	3	1	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:25932771G>A	ENST00000319524.6	+	15	1992	c.1992G>A	c.(1990-1992)acG>acA	p.T664T	KSR1_ENST00000268763.6_Silent_p.T527T|KSR1_ENST00000398988.3_Silent_p.T527T|KSR1_ENST00000509603.2_Silent_p.T642T			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	664	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACCGGCAGACGCGGCATGAGA	0.597																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(1579-1581)acG>acA		kinase suppressor of ras 1							20	22	22					17																	25932771		2051	4187	6238	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25932771G>A	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1992G>A	17.37:g.25932771G>A						KSR1_ENST00000319524.6_Silent_p.T664T|KSR1_ENST00000509603.2_Silent_p.T642T|KSR1_ENST00000268763.6_Silent_p.T527T	p.T527T	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	16	2026	+	Lung NSC(42;0.00836)		662					F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.1581G>A		.	.	.	.	.	.	.	.	.	.	G	8.290	0.817523	0.16607	.	.	ENSG00000141068	ENST00000398988	.	.	.	5.67	-11.3	0.00108	.	.	.	.	.	T	0.47432	0.1445	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60495	-0.7252	4	.	.	.	.	10.5325	0.44986	0.5092:0.2087:0.2821:0.0	.	.	.	.	T	378	.	.	A	+	1	0	KSR1	22956898	0.056000	0.20664	0.514000	0.27761	0.860000	0.49131	-0.765000	0.04730	-1.788000	0.01266	-1.686000	0.00732	GCG		0.597	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		12	11	0	0	0	1	0	12	11					A	25932771	G	A	25932771	2	1	435	1	0	0	0	0	0	0	0	1	8581	1074	38	1		1	KSR1	17	25932771	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4613473	25932771	55262439	7284	28209											
TMEM199	147007	broad.mit.edu	37	chr17	26687580	26687580	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggtgggactctcagcgAcctgggaaagcaaggtgagg	11	6	16	8	1	1	1	1	1	1	0	2	4	1	3	1	5	2	1	1	5	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26687580A>G	ENST00000292114.3	+	4	494	c.404A>G	c.(403-405)gAc>gGc	p.D135G	TMEM199_ENST00000395404.3_5'UTR|CTB-96E2.7_ENST00000577850.1_RNA|MIR4723_ENST00000585070.1_RNA|TMEM199_ENST00000509083.1_Missense_Mutation_p.D135G|CTB-96E2.3_ENST00000591482.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	135						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ACTCTCAGCGACCTGGGAAAG	0.463																																						ENST00000292114.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(403-405)gAc>gGc		transmembrane protein 199							115	105	108					17																	26687580		2203	4300	6503	SO:0001583	missense	147007					integral to membrane		g.chr17:26687580A>G	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 32"	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.404A>G	17.37:g.26687580A>G	ENSP00000292114:p.Asp135Gly					TMEM199_ENST00000395404.3_5'UTR|TMEM199_ENST00000509083.1_Missense_Mutation_p.D135G|CTB-96E2.3_ENST00000591482.1_RNA	p.D135G	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	4	494	+	all_lung(13;0.000354)|Lung NSC(42;0.00115)		135						Missense_Mutation	SNP	ENST00000292114.3	37	c.404A>G	CCDS11228.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.973777	0.53720	.	.	ENSG00000244045	ENST00000292114;ENST00000509083;ENST00000395404	T;T	0.29917	1.55;1.55	5.85	4.76	0.60689	.	0.264454	0.48286	D	0.000181	T	0.20700	0.0498	N	0.20685	0.6	0.46631	D	0.999136	B;B	0.21821	0.061;0.003	B;B	0.27887	0.084;0.009	T	0.05767	-1.0865	10	0.38643	T	0.18	-13.998	9.9423	0.41587	0.9204:0.0:0.0796:0.0	.	135;135	E9PBQ3;Q8N511	.;TM199_HUMAN	G	135;135;53	ENSP00000292114:D135G;ENSP00000427614:D135G	ENSP00000292114:D135G	D	+	2	0	TMEM199	23711707	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.212000	0.58514	2.238000	0.73509	0.533000	0.62120	GAC		0.463	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		12	13	0	0	0	1	0	12	13					G	26687580	A	G	26687580	3	3	435	1	0	0	0	0	1	0	0	0	16117	275	10	4	418	4	TMEM199	17	26687580	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	754809	26687580	54507630	7285	28210											
TMEM199	147007	broad.mit.edu	37	chr17	26687828	26687828	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggttgctgccttcgtctgCacttaccttggaagccaata	7	13	10	11	1	1	0	0	0	1	0	2	1	1	1	3	2	5	3	3	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26687828C>T	ENST00000292114.3	+	5	579	c.489C>T	c.(487-489)tgC>tgT	p.C163C	TMEM199_ENST00000395404.3_5'UTR|CTB-96E2.7_ENST00000577850.1_RNA|MIR4723_ENST00000585070.1_RNA|TMEM199_ENST00000509083.1_Silent_p.C163C|CTB-96E2.3_ENST00000591482.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	163						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CCTTCGTCTGCACTTACCTTG	0.537																																						ENST00000292114.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(487-489)tgC>tgT		transmembrane protein 199							93	92	92					17																	26687828		2203	4300	6503	SO:0001819	synonymous_variant	147007					integral to membrane		g.chr17:26687828C>T	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 32"	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.489C>T	17.37:g.26687828C>T						TMEM199_ENST00000395404.3_5'UTR|TMEM199_ENST00000509083.1_Silent_p.C163C|CTB-96E2.3_ENST00000591482.1_RNA	p.C163C	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	5	579	+	all_lung(13;0.000354)|Lung NSC(42;0.00115)		163						Silent	SNP	ENST00000292114.3	37	c.489C>T	CCDS11228.1																																																																																				0.537	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		45	78	0	0	0	1	0	45	78					T	26687828	C	T	26687828	2	4	435	1	0	0	0	0	0	0	0	1	16117	718	25	3		3	TMEM199	17	26687828	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	248	26687828	54507382	7286	28211											
SEBOX	147007	broad.mit.edu	37	chr17	26691899	26691899	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagggccatgctgcaaacGccctctccagctccagtagc	8	7	11	15	1	1	0	0	0	1	0	3	0	2	0	4	2	5	5	4	2	3	2	rs201656992		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26691899G>A	ENST00000292114.3	+	0	3148				VTN_ENST00000438614.1_Missense_Mutation_p.A62V|VTN_ENST00000431468.1_Missense_Mutation_p.A63V|CTB-96E2.7_ENST00000577850.1_RNA|CTB-96E2.2_ENST00000555059.2_Silent_p.G136G|TMEM199_ENST00000509083.1_Intron|VTN_ENST00000536498.1_Missense_Mutation_p.A62V|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TGCTGCAAACGCCCTCTCCAG	0.627													G|||	1	0.000199681	0	0	5008	,	,		18284	0.001		0	False		,,,				2504	0					ENST00000536498.1																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(1)	5						c.(184-186)gCg>gTg		SEBOX homeobox							64	76	72					17																	26691899		2187	4280	6467	SO:0001628	intergenic_variant	645832				cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:26691899G>A	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 32"	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26691899G>A						SEBOX_ENST00000438614.1_Missense_Mutation_p.A62V|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000431468.1_Missense_Mutation_p.A63V	p.A62V			Q9HB31	SEBOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	9	1582	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)		63						Missense_Mutation	SNP	ENST00000292114.3	37	c.185C>T	CCDS11228.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.448	-0.895248	0.02491	.	.	ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000258852	ENST00000431468;ENST00000536498;ENST00000438614;ENST00000247029;ENST00000555059	D;D;D	0.95447	-3.71;-3.71;-3.71	5.14	1.45	0.22620	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.495017	0.16922	N	0.194025	D	0.87398	0.6167	N	0.16233	0.39	0.80722	D	1	B;B	0.14438	0.01;0.01	B;B	0.12837	0.008;0.008	T	0.75196	-0.3403	10	0.07030	T	0.85	.	9.1376	0.36883	0.7043:0.0:0.2957:0.0	.	63;62	Q9HB31;C9JDG5	SEBOX_HUMAN;.	V	63;62;62;67;88	ENSP00000416240:A63V;ENSP00000444503:A62V;ENSP00000395142:A62V	ENSP00000247029:A67V	A	-	2	0	VTN;CTB-96E2.2	23716026	0.975000	0.34042	0.830000	0.32933	0.049000	0.14656	1.379000	0.34340	0.096000	0.17463	-1.036000	0.02392	GCG		0.627	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		11	15	0	0	0	1	0	11	15					A	26691899	G	A	26691899	1	1	435	0	1	0	0	0	0	0	0	0	13977	1087	38	1		1	SEBOX	17	26691899	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4071	26691899	54503311	7287	28212											
SARM1	113235	broad.mit.edu	37	chr17	26722947	26722947	+	3'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgtgactgctttaagctgCggcaagaacattgtgcccat	10	12	10	9	1	0	2	0	1	0	1	0	2	0	2	1	1	5	3	1	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26722947C>T	ENST00000440501.1	-	0	5200				SLC46A1_ENST00000584729.1_5'UTR|SARM1_ENST00000457710.3_Silent_p.C615C|SLC46A1_ENST00000321666.5_3'UTR|SARM1_ENST00000379061.4_3'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1						cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	CTTTAAGCTGCGGCAAGAACA	0.537																																						ENST00000457710.3																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1843-1845)tgC>tgT		sterile alpha and TIR motif containing 1							90	84	86					17																	26722947		2203	4300	6503	SO:0001624	3_prime_UTR_variant	23098				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity	g.chr17:26722947C>T	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"Solute carriers"	30521	protein-coding gene	gene with protein product	"heme carrier protein 1", "proton-coupled folate transporter"	611672	"solute carrier family 46, member 1"			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.*3725G>A	17.37:g.26722947C>T						SLC46A1_ENST00000584729.1_5'UTR|SARM1_ENST00000379061.4_3'UTR|SLC46A1_ENST00000321666.5_3'UTR|SLC46A1_ENST00000440501.1_3'UTR	p.C615C	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	8	2316	+	all_lung(13;0.000533)|Lung NSC(42;0.00171)		649			TIR.		Q1HE20|Q86T92|Q8TEG3|Q96FL0	Silent	SNP	ENST00000440501.1	37	c.1845C>T																																																																																					0.537	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		26	39	0	0	0	1	0	26	39					T	26722947	C	T	26722947	1	4	435	0	1	0	0	0	0	0	0	0	13842	776	27	1		1	SARM1	17	26722947	3'UTR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31048	26722947	54472263	7288	28213											
SLC46A1	113235	broad.mit.edu	37	chr17	26731754	26731754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtactgcaggagcttcagggCcagcaggctggtgaggtagg	8	7	18	8	0	1	1	1	1	0	0	1	2	1	2	1	6	4	6	1	6	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26731754C>T	ENST00000440501.1	-	2	1056	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	CTD-2350C19.2_ENST00000580714.1_RNA|CTD-2350C19.1_ENST00000583956.1_RNA|SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Missense_Mutation_p.A321T	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	321					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	AGCTTCAGGGCCAGCAGGCTG	0.562																																						ENST00000440501.1																			0				lung(5)	5						c.(961-963)Gcc>Acc		solute carrier family 46 (folate transporter), member 1	Folic Acid(DB00158)						52	58	56					17																	26731754		2053	4206	6259	SO:0001583	missense	113235				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	g.chr17:26731754C>T	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"Solute carriers"	30521	protein-coding gene	gene with protein product	"heme carrier protein 1", "proton-coupled folate transporter"	611672	"solute carrier family 46, member 1"			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.961G>A	17.37:g.26731754C>T	ENSP00000395653:p.Ala321Thr					SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Missense_Mutation_p.A321T	p.A321T	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	1056	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		321					Q1HE20|Q86T92|Q8TEG3|Q96FL0	Missense_Mutation	SNP	ENST00000440501.1	37	c.961G>A		.	.	.	.	.	.	.	.	.	.	C	14.08	2.429094	0.43122	.	.	ENSG00000076351	ENST00000440501;ENST00000321666	T;T	0.58940	0.3;0.3	5.05	2.84	0.33178	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.388376	0.30686	N	0.009086	T	0.49966	0.1588	.	.	.	0.20074	N	0.999933	P;P;B	0.38767	0.601;0.646;0.144	B;B;B	0.43508	0.259;0.422;0.11	T	0.39035	-0.9633	9	0.22706	T	0.39	-0.3203	13.1173	0.59307	0.1196:0.749:0.1313:0.0	.	321;321;321	B4DJ17;Q96NT5-2;Q96NT5	.;.;PCFT_HUMAN	T	321	ENSP00000395653:A321T;ENSP00000318828:A321T	ENSP00000318828:A321T	A	-	1	0	SLC46A1	23755881	1.000000	0.71417	0.979000	0.43373	0.321000	0.28281	3.776000	0.55356	1.103000	0.41568	0.563000	0.77884	GCC		0.562	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		5	20	0	0	0	1	0	5	20					T	26731754	C	T	26731754	3	4	435	1	0	0	0	0	1	0	0	0	14644	739	26	3	435	3	SLC46A1	17	26731754	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8807	26731754	54463456	7289	28214											
ALDOC	230	broad.mit.edu	37	chr17	26901208	26901208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgggcttgagcagggtccCctccaggtatacatgatggt	7	11	14	9	0	0	2	0	2	0	0	2	2	2	2	3	4	2	4	3	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26901208C>T	ENST00000226253.4	-	7	1151	c.676G>A	c.(676-678)Ggg>Agg	p.G226R	ALDOC_ENST00000395319.3_Missense_Mutation_p.G198R|RP11-192H23.5_ENST00000585189.1_RNA|PIGS_ENST00000395346.2_5'Flank|ALDOC_ENST00000395321.2_Missense_Mutation_p.G226R|PIGS_ENST00000308360.7_5'Flank|PIGS_ENST00000543734.1_5'Flank	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	226					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					AGCAGGGTCCCCTCCAGGTAT	0.587																																						ENST00000226253.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(676-678)Ggg>Agg		aldolase C, fructose-bisphosphate							150	158	156					17																	26901208		2203	4300	6503	SO:0001583	missense	230				fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	g.chr17:26901208C>T	AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.676G>A	17.37:g.26901208C>T	ENSP00000226253:p.Gly226Arg					ALDOC_ENST00000395321.2_Missense_Mutation_p.G226R|RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395319.3_Missense_Mutation_p.G198R	p.G226R	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN			7	1151	-	Lung NSC(42;0.00431)		226					B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	ENST00000226253.4	37	c.676G>A	CCDS11236.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541918	0.85917	.	.	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321	D;D;D	0.88431	-2.38;-2.38;-2.38	5.58	5.58	0.84498	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.95900	0.8665	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.96420	0.9311	10	0.87932	D	0	-0.0879	19.17	0.93574	0.0:1.0:0.0:0.0	.	198;226	A8MVZ9;P09972	.;ALDOC_HUMAN	R	198;226;226	ENSP00000378729:G198R;ENSP00000226253:G226R;ENSP00000378731:G226R	ENSP00000226253:G226R	G	-	1	0	ALDOC	23925335	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.810000	0.86072	2.637000	0.89404	0.555000	0.69702	GGG		0.587	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4			36	64	0	0	0	1	0	36	64					T	26901208	C	T	26901208	3	4	435	1	0	0	0	0	1	0	0	0	509	623	22	3	430	3	ALDOC	17	26901208	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	169454	26901208	54294002	7290	28215											
SPAG5	10615	broad.mit.edu	37	chr17	26904749	26904749	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcaatccctgtagttCtttgcatcccctcaccacct	7	13	4	17	0	2	0	1	0	1	0	5	0	5	0	6	0	2	4	6	0	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26904749C>A	ENST00000321765.5	-	24	3882	c.3550G>T	c.(3550-3552)Gaa>Taa	p.E1184*	ALDOC_ENST00000226253.4_5'Flank|ALDOC_ENST00000395319.3_5'Flank|ALDOC_ENST00000395321.2_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	1184					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CCCTGTAGTTCTTTGCATCCC	0.512																																						ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3550-3552)Gaa>Taa		sperm associated antigen 5							69	69	69					17																	26904749		2203	4300	6503	SO:0001587	stop_gained	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26904749C>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.3550G>T	17.37:g.26904749C>A	ENSP00000323300:p.Glu1184*						p.E1184*	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			24	3882	-	Lung NSC(42;0.00431)		1184					O95213|Q9BWE8|Q9NT17|Q9UFE6	Nonsense_Mutation	SNP	ENST00000321765.5	37	c.3550G>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	c	43	10.244783	0.99367	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.98	4.0	0.46444	.	0.219986	0.37955	N	0.001867	.	.	.	.	.	.	0.31632	N	0.648865	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-6.1387	8.8829	0.35384	0.0:0.831:0.0:0.169	.	.	.	.	X	1184	.	ENSP00000323300:E1184X	E	-	1	0	SPAG5	23928876	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	1.374000	0.34283	0.864000	0.35578	0.651000	0.88453	GAA		0.512	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		28	34	1	0	1.30897e-18	1	1.44543e-18	28	34					A	26904749	C	A	26904749	4	1	435	1	0	0	0	0	0	1	0	0	14981	922	32	5	35	5	SPAG5	17	26904749	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3541	26904749	54290461	7291	28216											
SPAG5	10615	broad.mit.edu	37	chr17	26911191	26911191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaggtctctttcaggtcccGcacctctttggccaggacag	7	10	10	14	1	3	0	1	0	2	0	5	1	4	1	3	4	0	1	3	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26911191G>A	ENST00000321765.5	-	13	2721	c.2389C>T	c.(2389-2391)Cgg>Tgg	p.R797W		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	797	Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TTCAGGTCCCGCACCTCTTTG	0.507																																						ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2389-2391)Cgg>Tgg		sperm associated antigen 5							192	166	175					17																	26911191		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26911191G>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2389C>T	17.37:g.26911191G>A	ENSP00000323300:p.Arg797Trp						p.R797W	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			13	2721	-	Lung NSC(42;0.00431)		797					O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.2389C>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463247	0.84425	.	.	ENSG00000076382;ENSG00000076382;ENSG00000258472	ENST00000321765;ENST00000536674;ENST00000531839	.	.	.	6.02	6.02	0.97574	.	0.352416	0.24766	N	0.035779	T	0.45538	0.1347	N	0.19112	0.55	0.26119	N	0.980572	D;D	0.71674	0.998;0.998	P;P	0.56916	0.736;0.809	T	0.43766	-0.9371	9	0.72032	D	0.01	-3.5464	16.0374	0.80640	0.0:0.0:1.0:0.0	.	202;797	E9PMD0;Q96R06	.;SPAG5_HUMAN	W	797;294;202	.	ENSP00000431165:R202W	R	-	1	2	SPAG5;RP11-192H23.4	23935318	0.996000	0.38824	0.995000	0.50966	0.997000	0.91878	3.374000	0.52402	2.857000	0.98124	0.650000	0.86243	CGG		0.507	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		40	60	0	0	0	1	0	40	60					A	26911191	G	A	26911191	3	1	435	1	0	0	0	0	1	0	0	0	14981	1086	38	1	1240	1	SPAG5	17	26911191	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6442	26911191	54284019	7292	28217											
SPAG5	10615	broad.mit.edu	37	chr17	26912639	26912639	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgatgcgctggctggcGtgtgcacagaaagcctccaa	8	8	14	11	2	0	2	0	1	0	1	1	2	1	2	2	3	3	4	2	3	2	0	rs575160998	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26912639G>A	ENST00000321765.5	-	8	2105	c.1773C>T	c.(1771-1773)caC>caT	p.H591H		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	591	Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GCTGGCTGGCGTGTGCACAGA	0.542													G|||	2	0.000399361	0	0	5008	,	,		21192	0		0	False		,,,				2504	0.002					ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1771-1773)caC>caT		sperm associated antigen 5							131	126	128					17																	26912639		2203	4300	6503	SO:0001819	synonymous_variant	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26912639G>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1773C>T	17.37:g.26912639G>A							p.H591H	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			8	2105	-	Lung NSC(42;0.00431)		591					O95213|Q9BWE8|Q9NT17|Q9UFE6	Silent	SNP	ENST00000321765.5	37	c.1773C>T	CCDS32594.1																																																																																				0.542	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		63	108	0	0	0	1	0	63	108					A	26912639	G	A	26912639	2	1	435	1	0	0	0	0	0	0	0	1	14981	1136	40	1		1	SPAG5	17	26912639	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1448	26912639	54282571	7293	28218											
KIAA0100	9703	broad.mit.edu	37	chr17	26948163	26948163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctggacttgctgggcttgCtgtgcctcagctggctggtt	2	13	15	11	1	1	0	1	0	0	0	1	1	1	1	1	4	4	7	1	4	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26948163C>A	ENST00000528896.2	-	28	5159	c.5085G>T	c.(5083-5085)caG>caT	p.Q1695H	KIAA0100_ENST00000579924.2_5'Flank|KIAA0100_ENST00000389003.3_Missense_Mutation_p.Q1552H|KIAA0100_ENST00000544884.1_Missense_Mutation_p.Q1552H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1695						extracellular region (GO:0005576)				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)					GCTGGGCTTGCTGTGCCTCAG	0.453																																						ENST00000528896.2																			0				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						c.(5083-5085)caG>caT		KIAA0100							66	60	62					17																	26948163		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26948163C>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.5085G>T	17.37:g.26948163C>A	ENSP00000436773:p.Gln1695His					KIAA0100_ENST00000544884.1_Missense_Mutation_p.Q1552H|KIAA0100_ENST00000389003.3_Missense_Mutation_p.Q1552H	p.Q1695H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			28	5159	-	Lung NSC(42;0.00431)		1695					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.5085G>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071469	0.36566	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.24350	1.86;1.86	5.53	1.17	0.20885	.	0.111909	0.64402	D	0.000006	T	0.25494	0.0620	L	0.29908	0.895	0.42812	D	0.993967	P	0.50617	0.937	P	0.49276	0.605	T	0.01127	-1.1443	10	0.45353	T	0.12	.	14.51	0.67780	0.0:0.8203:0.0:0.1797	.	1695	Q14667	K0100_HUMAN	H	1695;1665;1695;1552	ENSP00000436773:Q1695H;ENSP00000446443:Q1552H	ENSP00000005905:Q1695H	Q	-	3	2	KIAA0100	23972290	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	1.429000	0.34903	-0.168000	0.10853	-1.134000	0.01955	CAG		0.453	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		18	37	1	0	6.33239e-15	1	6.92311e-15	18	37					A	26948163	C	A	26948163	3	1	435	1	0	0	0	0	1	0	0	0	8154	796	28	5	1670	5	KIAA0100	17	26948163	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	35524	26948163	54247047	7294	28219											
KIAA0100	9703	broad.mit.edu	37	chr17	26964904	26964904	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcgaccttcaagtccAccttccacagtaatgacaca	11	11	5	14	1	2	1	1	1	1	0	5	2	4	1	4	0	0	1	4	0	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26964904A>G	ENST00000528896.2	-	14	1795	c.1721T>C	c.(1720-1722)gTg>gCg	p.V574A	KIAA0100_ENST00000389003.3_Missense_Mutation_p.V431A|KIAA0100_ENST00000544884.1_Missense_Mutation_p.V431A|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	574						extracellular region (GO:0005576)				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)					CTTCAAGTCCACCTTCCACAG	0.473																																						ENST00000528896.2																			0				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						c.(1720-1722)gTg>gCg		KIAA0100							123	105	111					17																	26964904		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26964904A>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1721T>C	17.37:g.26964904A>G	ENSP00000436773:p.Val574Ala					KIAA0100_ENST00000544884.1_Missense_Mutation_p.V431A|KIAA0100_ENST00000389003.3_Missense_Mutation_p.V431A	p.V574A	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			14	1795	-	Lung NSC(42;0.00431)		574					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.1721T>C	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416022	0.83449	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.31510	1.51;1.49	5.76	5.76	0.90799	FMP27, N-terminal (1);	0.160556	0.48767	D	0.000162	T	0.32793	0.0841	L	0.29908	0.895	0.54753	D	0.999982	P	0.43024	0.798	P	0.47044	0.535	T	0.03773	-1.1005	10	0.44086	T	0.13	.	16.0821	0.81012	1.0:0.0:0.0:0.0	.	574	Q14667	K0100_HUMAN	A	574;574;574;431	ENSP00000436773:V574A;ENSP00000446443:V431A	ENSP00000005905:V574A	V	-	2	0	KIAA0100	23989031	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.866000	0.87056	2.200000	0.70718	0.460000	0.39030	GTG		0.473	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		16	31	0	0	0	1	0	16	31					G	26964904	A	G	26964904	3	3	435	1	0	0	0	0	1	0	0	0	8154	159	6	4	5090	4	KIAA0100	17	26964904	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	16741	26964904	54230306	7295	28220											
KIAA0100	9703	broad.mit.edu	37	chr17	26970297	26970297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtaggtccgttctgataCgcacttctccaaagcacaat	10	12	7	12	2	3	1	0	1	3	0	5	1	4	1	2	1	2	4	2	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26970297C>T	ENST00000528896.2	-	4	355	c.281G>A	c.(280-282)cGt>cAt	p.R94H	KIAA0100_ENST00000389003.3_5'UTR|KIAA0100_ENST00000544884.1_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	94						extracellular region (GO:0005576)		p.R94H(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CGTTCTGATACGCACTTCTCC	0.522																																						ENST00000528896.2																			1	Substitution - Missense(1)	p.R94H(1)	endometrium(1)	breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(280-282)cGt>cAt		KIAA0100							119	121	120					17																	26970297		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26970297C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.281G>A	17.37:g.26970297C>T	ENSP00000436773:p.Arg94His					KIAA0100_ENST00000544884.1_5'UTR|KIAA0100_ENST00000389003.3_5'UTR	p.R94H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			4	355	-	Lung NSC(42;0.00431)		94					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.281G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750312	0.89753	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896	T	0.46819	0.86	5.53	5.53	0.82687	FMP27, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.58335	-0.7654	10	0.48119	T	0.1	.	16.608	0.84836	0.0:1.0:0.0:0.0	.	94;94	F6XS94;Q14667	.;K0100_HUMAN	H	94	ENSP00000436773:R94H	ENSP00000005905:R94H	R	-	2	0	KIAA0100	23994424	1.000000	0.71417	0.914000	0.36105	0.996000	0.88848	5.200000	0.65158	2.603000	0.88011	0.563000	0.77884	CGT		0.522	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		14	53	0	0	0	1	0	14	53					T	26970297	C	T	26970297	3	4	435	1	0	0	0	0	1	0	0	0	8154	536	19	1	6570	1	KIAA0100	17	26970297	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5393	26970297	54224913	7296	28221											
SUPT6H	6830	broad.mit.edu	37	chr17	27018008	27018008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgagagctatgaccaggCgatccgcaatgatgagacag	12	6	15	8	2	0	4	0	4	0	2	1	7	1	4	2	2	1	2	2	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27018008C>T	ENST00000314616.6	+	27	3843	c.3560C>T	c.(3559-3561)gCg>gTg	p.A1187V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1187V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1187	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)					TATGACCAGGCGATCCGCAAT	0.552																																						ENST00000314616.6																			0				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						c.(3559-3561)gCg>gTg		suppressor of Ty 6 homolog (S. cerevisiae)							121	91	101					17																	27018008		2203	4300	6503	SO:0001583	missense	6830				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	g.chr17:27018008C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3560C>T	17.37:g.27018008C>T	ENSP00000319104:p.Ala1187Val					SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1187V	p.A1187V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			27	3843	+	Lung NSC(42;0.00431)		1187					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.3560C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365543	0.82463	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	M	0.62209	1.925	0.80722	D	1	P	0.46987	0.888	B	0.32465	0.146	T	0.57957	-0.7721	9	0.33141	T	0.24	-13.7195	19.5095	0.95135	0.0:1.0:0.0:0.0	.	1187	Q7KZ85	SPT6H_HUMAN	V	1187	.	ENSP00000319104:A1187V	A	+	2	0	SUPT6H	24042135	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.165000	0.77544	2.679000	0.91253	0.655000	0.94253	GCG		0.552	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		13	17	0	0	0	1	0	13	17					T	27018008	C	T	27018008	3	4	435	1	0	0	0	0	1	0	0	0	15397	768	27	1	3662	1	SUPT6H	17	27018008	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	47711	27018008	54177202	7297	28222											
ERAL1	26284	broad.mit.edu	37	chr17	27185652	27185652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacggcagccctcactgaagGtgtggtcaatggcaaaaagc	12	6	12	11	1	2	1	2	1	0	0	2	1	2	1	1	4	2	2	1	4	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27185652G>A	ENST00000254928.5	+	7	867	c.770G>A	c.(769-771)gGt>gAt	p.G257D	MIR144_ENST00000384886.1_lincRNA|MIR144_ENST00000385059.1_lincRNA	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	257	Era-type G.				ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	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)			CTCACTGAAGGTGTGGTCAAT	0.542																																						ENST00000254928.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11						c.(769-771)gGt>gAt		Era-like 12S mitochondrial rRNA chaperone 1							105	103	104					17																	27185652		2203	4300	6503	SO:0001583	missense	26284				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	g.chr17:27185652G>A	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"Era (E. coli G-protein homolog)-like 1", "Era G-protein-like 1 (E. coli)"			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.770G>A	17.37:g.27185652G>A	ENSP00000254928:p.Gly257Asp						p.G257D	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	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)		7	867	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		257					B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	ENST00000254928.5	37	c.770G>A	CCDS11244.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488960	0.84962	.	.	ENSG00000132591	ENST00000254928;ENST00000412138	D	0.95238	-3.65	5.91	5.91	0.95273	.	0.043704	0.85682	D	0.000000	D	0.97250	0.9101	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.96627	0.9464	10	0.45353	T	0.12	-13.7145	18.8601	0.92268	0.0:0.0:1.0:0.0	.	257	O75616	ERAL1_HUMAN	D	257;197	ENSP00000254928:G257D	ENSP00000254928:G257D	G	+	2	0	ERAL1	24209778	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.138000	0.71717	2.813000	0.96785	0.655000	0.94253	GGT		0.542	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2			7	94	0	0	0	1	0	7	94					A	27185652	G	A	27185652	3	1	435	1	0	0	0	0	1	0	0	0	5202	1261	44	3	796	3	ERAL1	17	27185652	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	167644	27185652	54009558	7298	28223											
ERAL1	26284	broad.mit.edu	37	chr17	27187545	27187545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgcgatgttgacatcCgcctctctgtgaagctcctc	5	13	8	15	2	2	2	0	2	2	0	7	3	5	2	4	0	2	2	4	0	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27187545C>T	ENST00000254928.5	+	10	1385	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	MIR144_ENST00000384886.1_lincRNA|MIR144_ENST00000581873.1_lincRNA|MIR144_ENST00000385059.1_lincRNA	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	430	KH type-2.				ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	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)			TGTTGACATCCGCCTCTCTGT	0.562																																						ENST00000254928.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11						c.(1288-1290)Cgc>Tgc		Era-like 12S mitochondrial rRNA chaperone 1							166	129	141					17																	27187545		2203	4300	6503	SO:0001583	missense	26284				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	g.chr17:27187545C>T	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"Era (E. coli G-protein homolog)-like 1", "Era G-protein-like 1 (E. coli)"			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.1288C>T	17.37:g.27187545C>T	ENSP00000254928:p.Arg430Cys						p.R430C	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	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)		10	1385	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		430			KH type-2.		B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	ENST00000254928.5	37	c.1288C>T	CCDS11244.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876862	0.51801	.	.	ENSG00000132591	ENST00000254928	.	.	.	6.07	5.1	0.69264	K homology domain-like, alpha/beta (1);K Homology, prokaryotic type (1);	0.260360	0.42548	D	0.000681	T	0.62696	0.2449	M	0.81802	2.56	0.49130	D	0.999753	D	0.55800	0.973	B	0.43536	0.423	T	0.71126	-0.4683	9	0.87932	D	0	-8.8208	13.9713	0.64242	0.0:0.9272:0.0:0.0728	.	430	O75616	ERAL1_HUMAN	C	430	.	ENSP00000254928:R430C	R	+	1	0	ERAL1	24211671	0.997000	0.39634	0.177000	0.23020	0.042000	0.13812	3.616000	0.54174	1.578000	0.49821	0.655000	0.94253	CGC		0.562	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2			28	45	0	0	0	1	0	28	45					T	27187545	C	T	27187545	3	4	435	1	0	0	0	0	1	0	0	0	5202	652	23	2	1326	2	ERAL1	17	27187545	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1893	27187545	54007665	7299	28224											
SEZ6	124925	broad.mit.edu	37	chr17	27287826	27287826	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggacagcccctcacctgTcatcatcctctgccagggaa	9	8	8	16	0	4	0	3	0	1	0	5	2	5	2	5	2	2	0	5	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27287826T>C	ENST00000317338.12	-	6	1834	c.1406A>G	c.(1405-1407)gAc>gGc	p.D469G	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.D469G|SEZ6_ENST00000335960.6_Missense_Mutation_p.D469G|SEZ6_ENST00000442608.3_Missense_Mutation_p.D469G			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	469	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				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)			CCCTCACCTGTCATCATCCTC	0.597																																						ENST00000317338.12																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.(1405-1407)gAc>gGc		seizure related 6 homolog (mouse)							76	83	81					17																	27287826		2076	4215	6291	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27287826T>C	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1406A>G	17.37:g.27287826T>C	ENSP00000312942:p.Asp469Gly					SEZ6_ENST00000442608.3_Missense_Mutation_p.D469G|SEZ6_ENST00000360295.9_Missense_Mutation_p.D469G|SEZ6_ENST00000335960.6_Missense_Mutation_p.D469G|PIPOX_ENST00000583215.1_Intron	p.D469G			Q53EL9	SEZ6_HUMAN	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)		6	1834	-	Lung NSC(42;0.0137)		469			CUB 1.		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.1406A>G	CCDS45639.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.3|22.3	4.266498|4.266498	0.80358|0.80358	.|.	.|.	ENSG00000063015|ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000335960;ENST00000541381|ENST00000539265	T;T;T|.	0.34859|.	1.34;1.34;1.34|.	4.53|4.53	4.53|4.53	0.55603|0.55603	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80412|0.80412	0.4618|0.4618	M|M	0.91818|0.91818	3.245|3.245	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.994|.	D;D|.	0.85130|.	0.997;0.978|.	D|D	0.84652|0.84652	0.0701|0.0701	10|5	0.87932|.	D|.	0|.	.|.	12.1311|12.1311	0.53944|0.53944	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	469;469|.	Q53EL9-3;Q53EL9|.	.;SEZ6_HUMAN|.	G|A	469;469;344;469;469|56	ENSP00000403784:D469G;ENSP00000353440:D469G;ENSP00000337407:D469G|.	ENSP00000312942:D344G|.	D|T	-|-	2|1	0|0	SEZ6|SEZ6	24311952|24311952	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	5.822000|5.822000	0.69265|0.69265	2.039000|2.039000	0.60335|0.60335	0.260000|0.260000	0.18958|0.18958	GAC|ACA		0.597	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			33	37	0	0	0	1	0	33	37					C	27287826	T	C	27287826	3	2	435	1	0	0	0	0	1	0	0	0	14142	1667	58	4	1639	4	SEZ6	17	27287826	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	100281	27287826	53907384	7300	28225											
PIPOX	51268	broad.mit.edu	37	chr17	27371958	27371958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggaagacttttacaccCggatgatgcatgagtgctat	11	11	10	9	1	0	3	0	2	0	1	0	5	0	5	2	2	3	2	2	2	3	3	rs141823270		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27371958C>T	ENST00000323372.4	+	2	522	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	66					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	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)	CTTTTACACCCGGATGATGCA	0.527																																						ENST00000323372.4																			0				endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(196-198)Cgg>Tgg		pipecolic acid oxidase	Glycine(DB00145)						116	105	109					17																	27371958		2203	4300	6503	SO:0001583	missense	51268				tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity	g.chr17:27371958C>T	AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"L-pipecolic acid oxidase"					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.196C>T	17.37:g.27371958C>T	ENSP00000317721:p.Arg66Trp					PIPOX_ENST00000583215.1_3'UTR	p.R66W	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	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)		2	522	+	Lung NSC(42;0.015)		66					B3KNH0|Q96H28|Q9C070	Missense_Mutation	SNP	ENST00000323372.4	37	c.196C>T	CCDS11248.1	.	.	.	.	.	.	.	.	.	.	c	15.82	2.947296	0.53186	.	.	ENSG00000179761	ENST00000323372	D	0.83075	-1.68	5.8	1.01	0.19927	FAD dependent oxidoreductase (1);	1.700590	0.02448	N	0.085306	D	0.85771	0.5774	M	0.68317	2.08	0.09310	N	1	D	0.67145	0.996	P	0.53185	0.72	T	0.66814	-0.5828	10	0.62326	D	0.03	-13.9725	3.7367	0.08514	0.4958:0.3001:0.1194:0.0847	.	66	Q9P0Z9	SOX_HUMAN	W	66	ENSP00000317721:R66W	ENSP00000317721:R66W	R	+	1	2	PIPOX	24396084	0.000000	0.05858	0.116000	0.21606	0.473000	0.32948	0.444000	0.21661	0.307000	0.22880	-0.127000	0.14921	CGG		0.527	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518		16	24	0	0	0	1	0	16	24					T	27371958	C	T	27371958	3	4	435	1	0	0	0	0	1	0	0	0	11943	643	23	2	202	2	PIPOX	17	27371958	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	84132	27371958	53823252	7301	28226											
PIPOX	51268	broad.mit.edu	37	chr17	27380057	27380057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgaggaactgaagcaacGtttcccaaatattcggttgc	12	11	9	9	2	1	2	0	2	1	0	3	3	2	3	1	2	4	3	1	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27380057G>A	ENST00000323372.4	+	3	709	c.383G>A	c.(382-384)cGt>cAt	p.R128H	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	128					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	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)	CTGAAGCAACGTTTCCCAAAT	0.483																																						ENST00000323372.4																			0				endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(382-384)cGt>cAt		pipecolic acid oxidase	Glycine(DB00145)						98	92	94					17																	27380057		2203	4300	6503	SO:0001583	missense	51268				tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity	g.chr17:27380057G>A	AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"L-pipecolic acid oxidase"					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.383G>A	17.37:g.27380057G>A	ENSP00000317721:p.Arg128His					PIPOX_ENST00000583215.1_3'UTR	p.R128H	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	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)		3	709	+	Lung NSC(42;0.015)		128					B3KNH0|Q96H28|Q9C070	Missense_Mutation	SNP	ENST00000323372.4	37	c.383G>A	CCDS11248.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950462	0.34377	.	.	ENSG00000179761	ENST00000323372;ENST00000419875	D	0.83419	-1.72	5.98	-0.835	0.10775	FAD dependent oxidoreductase (1);	0.305872	0.39759	N	0.001262	T	0.75968	0.3922	L	0.58354	1.805	0.34214	D	0.674571	B	0.18968	0.032	B	0.17098	0.017	T	0.69522	-0.5123	10	0.40728	T	0.16	8.4116	9.6347	0.39800	0.4788:0.0:0.5212:0.0	.	128	Q9P0Z9	SOX_HUMAN	H	128;59	ENSP00000317721:R128H	ENSP00000317721:R128H	R	+	2	0	PIPOX	24404183	0.012000	0.17670	0.935000	0.37517	0.952000	0.60782	0.111000	0.15458	-0.110000	0.12022	-0.948000	0.02665	CGT		0.483	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518		31	39	0	0	0	1	0	31	39					A	27380057	G	A	27380057	3	1	435	1	0	0	0	0	1	0	0	0	11943	1145	40	1	393	1	PIPOX	17	27380057	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8099	27380057	53815153	7302	28227											
TIAF1	9220	broad.mit.edu	37	chr17	27400976	27400976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaactgctgtagttggaatGggtttaccttaaataggtca	11	14	11	5	0	1	1	1	1	0	0	1	2	1	2	1	3	3	4	1	3	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27400976G>A	ENST00000359450.6	-	1	4899	c.242C>T	c.(241-243)cCa>cTa	p.P81L	MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000354329.4_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.P81L|MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000529578.1_5'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	81					apoptotic process (GO:0006915)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of apoptotic process (GO:0043066)	nucleus (GO:0005634)				kidney(1)|lung(1)|urinary_tract(1)	3	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)			TAGTTGGAATGGGTTTACCTT	0.537																																						ENST00000359450.6																			0				kidney(1)|lung(1)|urinary_tract(1)	3						c.(241-243)cCa>cTa		TGFB1-induced anti-apoptotic factor 1							154	126	136					17																	27400976		2203	4300	6503	SO:0001583	missense	9220				anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus		g.chr17:27400976G>A	AF105277	CCDS32599.1	17q11.2	2006-08-07				ENSG00000221995			11803	protein-coding gene	gene with protein product		609517				9918798	Standard	NM_004740		Approved		uc002hdv.1	O95411		ENST00000359450.6:c.242C>T	17.37:g.27400976G>A	ENSP00000352424:p.Pro81Leu					TIAF1_ENST00000408971.2_Missense_Mutation_p.P81L|MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000531253.1_3'UTR	p.P81L	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	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)		1	4899	-	Lung NSC(42;0.015)		81					A2RRE2|Q6PEG2	Missense_Mutation	SNP	ENST00000359450.6	37	c.242C>T	CCDS32599.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699318	0.30142	.	.	ENSG00000221995	ENST00000408971;ENST00000511177	.	.	.	4.98	1.89	0.25635	.	.	.	.	.	T	0.22437	0.0541	N	0.08118	0	0.31339	N	0.683913	B	0.24576	0.106	B	0.26770	0.073	T	0.20840	-1.0263	8	0.87932	D	0	.	6.5403	0.22377	0.3051:0.0:0.6949:0.0	.	81	O95411	TIAF1_HUMAN	L	81	.	ENSP00000386130:P81L	P	-	2	0	TIAF1	24425102	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	0.847000	0.27696	0.379000	0.24794	0.655000	0.94253	CCA		0.537	TIAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372394.2	NM_004740		33	56	0	0	0	1	0	33	56					A	27400976	G	A	27400976	3	1	435	1	0	0	0	0	1	0	0	0	15885	1348	47	3	109	3	TIAF1	17	27400976	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20919	27400976	53794234	7303	28228											
MYO18A	399687	broad.mit.edu	37	chr17	27414082	27414082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggttctcggctgcaatgcGctgatcccgctcctcagtca	5	10	10	16	4	3	1	2	1	1	0	6	1	5	1	3	2	2	5	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27414082G>A	ENST00000527372.1	-	38	5764	c.5584C>T	c.(5584-5586)Cgc>Tgc	p.R1862C	MYO18A_ENST00000533112.1_Missense_Mutation_p.R1825C|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1862C|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1862C|MYO18A_ENST00000529578.1_5'UTR	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1862					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCTGCAATGCGCTGATCCCGC	0.597																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(5584-5586)Cgc>Tgc		myosin XVIIIA							89	96	93					17																	27414082		2075	4191	6266	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27414082G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5584C>T	17.37:g.27414082G>A	ENSP00000437073:p.Arg1862Cys					TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1862C|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1825C|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1862C	p.R1862C	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	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)		38	5764	-			1862					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.5584C>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	35	5.461391	0.96240	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105	D;D;D;D	0.88586	-2.35;-2.4;-2.35;-2.35	5.18	5.18	0.71444	.	0.153445	0.64402	D	0.000012	D	0.91670	0.7367	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	P;P;P;P	0.62014	0.897;0.897;0.897;0.792	D	0.91090	0.4906	10	0.48119	T	0.1	.	19.2785	0.94042	0.0:0.0:1.0:0.0	.	1465;1825;1862;1862	F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	C	1862;1825;1825;1862;1862;758;758;1465;143	ENSP00000346291:R1862C;ENSP00000435932:R1825C;ENSP00000434228:R1862C;ENSP00000437073:R1862C	ENSP00000346291:R1862C	R	-	1	0	MYO18A	24438208	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.995000	0.57001	2.873000	0.98535	0.561000	0.74099	CGC		0.597	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		4	86	0	0	0	1	0	4	86					A	27414082	G	A	27414082	3	1	435	1	0	0	0	0	1	0	0	0	10065	1087	38	1	600	1	MYO18A	17	27414082	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13106	27414082	53781128	7304	28229											
MYO18A	399687	broad.mit.edu	37	chr17	27420010	27420010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctctgactcaaagtcccGccggttcacctgggtgggca	6	10	11	14	2	3	1	2	1	1	0	5	1	4	1	3	3	0	2	3	3	1	2	rs200860055	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27420010G>A	ENST00000527372.1	-	33	5116	c.4936C>T	c.(4936-4938)Cgg>Tgg	p.R1646W	MYO18A_ENST00000533112.1_Missense_Mutation_p.R1609W|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1646W|TIAF1_ENST00000408971.2_5'Flank|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1646W|MYO18A_ENST00000529578.1_5'Flank	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1646					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCAAAGTCCCGCCGGTTCACC	0.612													g|||	2	0.000399361	8e-04	0	5008	,	,		18848	0		0.001	False		,,,				2504	0				Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(4936-4938)Cgg>Tgg		myosin XVIIIA			TRP/ARG,TRP/ARG	0,4122		0,0,2061	32	40	37		4936,4936	2.4	1	17		37	1,8383		0,1,4191	no	missense,missense	MYO18A	NM_078471.3,NM_203318.1	101,101	0,1,6252	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging,probably-damaging	1646/2055,1646/2040	27420010	1,12505	2061	4192	6253	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27420010G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4936C>T	17.37:g.27420010G>A	ENSP00000437073:p.Arg1646Trp					MYO18A_ENST00000354329.4_Missense_Mutation_p.R1646W|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1609W|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1646W	p.R1646W	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	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)		33	5116	-			1646					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.4936C>T	CCDS45642.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	g	18.03	3.533539	0.64972	0.0	1.19E-4	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;D;T;T	0.89875	-1.15;-2.58;-1.15;-1.15	4.57	2.38	0.29361	Myosin tail (1);	0.232471	0.42548	D	0.000696	D	0.93051	0.7788	M	0.74647	2.275	0.37060	D	0.898019	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;D	0.68765	0.9;0.9;0.9;0.96	D	0.94723	0.7902	10	0.62326	D	0.03	.	13.9616	0.64182	0.0:0.0:0.5827:0.4173	.	1249;1609;1646;1646	F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	W	1646;1609;1609;1646;1646;542;542;1249	ENSP00000346291:R1646W;ENSP00000435932:R1609W;ENSP00000434228:R1646W;ENSP00000437073:R1646W	ENSP00000346291:R1646W	R	-	1	2	MYO18A	24444136	0.952000	0.32445	1.000000	0.80357	0.991000	0.79684	0.177000	0.16801	1.071000	0.40834	0.461000	0.40582	CGG		0.612	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		19	19	0	0	0	1	0	19	19					A	27420010	G	A	27420010	3	1	435	1	0	0	0	0	1	0	0	0	10065	1086	38	1	1268	1	MYO18A	17	27420010	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5928	27420010	53775200	7305	28230											
MYO18A	399687	broad.mit.edu	37	chr17	27437606	27437606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagcaccgtggcactgcCtgcgcggcccagaaacaggt	10	4	14	13	3	0	2	0	0	0	2	0	3	0	2	3	3	4	2	3	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27437606C>A	ENST00000527372.1	-	18	3115	c.2935G>T	c.(2935-2937)Ggc>Tgc	p.G979C	MYO18A_ENST00000533112.1_Missense_Mutation_p.G979C|MYO18A_ENST00000354329.4_Missense_Mutation_p.G979C|MYO18A_ENST00000531253.1_Missense_Mutation_p.G979C	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	979	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTGGCACTGCCTGCGCGGCCC	0.627																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(2935-2937)Ggc>Tgc		myosin XVIIIA							39	44	42					17																	27437606		1980	4173	6153	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27437606C>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.2935G>T	17.37:g.27437606C>A	ENSP00000437073:p.Gly979Cys					MYO18A_ENST00000354329.4_Missense_Mutation_p.G979C|MYO18A_ENST00000533112.1_Missense_Mutation_p.G979C|MYO18A_ENST00000531253.1_Missense_Mutation_p.G979C	p.G979C	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	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)		18	3115	-			979			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.2935G>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094069	0.76870	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	5.75	4.77	0.60923	Myosin head, motor domain (2);	0.253211	0.46442	D	0.000294	D	0.92861	0.7729	M	0.80746	2.51	0.46185	D	0.998917	D;D;D;D;D	0.76494	0.992;0.999;0.999;0.999;0.999	P;D;D;D;D	0.72075	0.882;0.912;0.939;0.939;0.976	D	0.93280	0.6659	10	0.87932	D	0	.	13.3935	0.60836	0.0:0.8716:0.0:0.1284	.	648;591;979;979;979	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	C	979;979;979;979;979;591	ENSP00000346291:G979C;ENSP00000435932:G979C;ENSP00000434228:G979C;ENSP00000437073:G979C	ENSP00000346291:G979C	G	-	1	0	MYO18A	24461732	0.794000	0.28838	0.789000	0.31954	0.997000	0.91878	1.665000	0.37449	2.717000	0.92951	0.561000	0.74099	GGC		0.627	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		7	9	1	0	0.00198382	1	0.0020125	7	9					A	27437606	C	A	27437606	3	1	435	1	0	0	0	0	1	0	0	0	10065	681	24	5	3329	5	MYO18A	17	27437606	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17596	27437606	53757604	7306	28231											
MYO18A	399687	broad.mit.edu	37	chr17	27448161	27448161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagcatcgccctgtatgcGgtctgggccactgcatagat	8	10	11	12	2	2	1	1	0	1	1	3	1	2	1	2	2	3	3	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27448161G>A	ENST00000527372.1	-	6	1620	c.1440C>T	c.(1438-1440)acC>acT	p.T480T	MYO18A_ENST00000533112.1_Silent_p.T480T|MYO18A_ENST00000354329.4_Silent_p.T480T|MYO18A_ENST00000531253.1_Silent_p.T480T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	480	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCCTGTATGCGGTCTGGGCCA	0.587																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(1438-1440)acC>acT		myosin XVIIIA							42	44	43					17																	27448161		2151	4244	6395	SO:0001819	synonymous_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27448161G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1440C>T	17.37:g.27448161G>A						MYO18A_ENST00000354329.4_Silent_p.T480T|MYO18A_ENST00000533112.1_Silent_p.T480T|MYO18A_ENST00000531253.1_Silent_p.T480T	p.T480T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	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)		6	1620	-			480			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	37	c.1440C>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	6.568	0.473054	0.12461	.	.	ENSG00000196535	ENST00000528564	.	.	.	5.92	-11.8	0.00035	.	.	.	.	.	T	0.32436	0.0829	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49263	-0.8958	4	.	.	.	.	2.5029	0.04638	0.4888:0.1928:0.151:0.1674	.	.	.	.	C	186	.	.	R	-	1	0	MYO18A	24472287	0.000000	0.05858	0.007000	0.13788	0.751000	0.42716	-3.592000	0.00421	-3.801000	0.00105	-0.258000	0.10820	CGC		0.587	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		5	9	0	0	0	1	0	5	9					A	27448161	G	A	27448161	2	1	435	1	0	0	0	0	0	0	0	1	10065	1103	39	2		2	MYO18A	17	27448161	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10555	27448161	53747049	7307	28232											
MYO18A	399687	broad.mit.edu	37	chr17	27493529	27493529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctctcatcccggctacGctgggagaaggaaaagcgct	9	6	14	12	4	1	1	1	0	1	1	3	3	2	2	1	4	2	4	1	4	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27493529G>A	ENST00000527372.1	-	2	610	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	MYO18A_ENST00000533112.1_Missense_Mutation_p.R144C|MYO18A_ENST00000354329.4_Missense_Mutation_p.R144C|MYO18A_ENST00000531253.1_Missense_Mutation_p.R144C	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	144	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCCCGGCTACGCTGGGAGAAG	0.622																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(430-432)Cgt>Tgt		myosin XVIIIA							23	28	26					17																	27493529		2063	4200	6263	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27493529G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.430C>T	17.37:g.27493529G>A	ENSP00000437073:p.Arg144Cys					MYO18A_ENST00000354329.4_Missense_Mutation_p.R144C|MYO18A_ENST00000533112.1_Missense_Mutation_p.R144C|MYO18A_ENST00000531253.1_Missense_Mutation_p.R144C	p.R144C	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	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)		2	610	-			144					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.430C>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412111	0.62511	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372	D;D;D;D	0.89196	-2.38;-2.48;-2.37;-2.38	5.11	5.11	0.69529	.	0.125411	0.49305	D	0.000142	D	0.84893	0.5573	N	0.19112	0.55	0.45183	D	0.998196	D;D;D	0.69078	0.986;0.994;0.997	P;P;P	0.50708	0.648;0.648;0.543	D	0.86020	0.1506	10	0.62326	D	0.03	.	11.5409	0.50665	0.0:0.0:0.6986:0.3013	.	144;144;144	Q92614-3;Q92614-4;Q92614	.;.;MY18A_HUMAN	C	144	ENSP00000346291:R144C;ENSP00000435932:R144C;ENSP00000434228:R144C;ENSP00000437073:R144C	ENSP00000346291:R144C	R	-	1	0	MYO18A	24517655	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.851000	0.48302	2.660000	0.90430	0.467000	0.42956	CGT		0.622	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		13	17	0	0	0	1	0	13	17					A	27493529	G	A	27493529	3	1	435	1	0	0	0	0	1	0	0	0	10065	1087	38	1	5898	1	MYO18A	17	27493529	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	45368	27493529	53701681	7308	28233											
TAOK1	57551	broad.mit.edu	37	chr17	27818816	27818816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caataggtctgattattttcGcaactttgtagattcttgcc	9	17	7	8	1	2	2	0	1	2	1	3	2	2	2	1	1	2	2	1	1	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27818816G>A	ENST00000261716.3	+	10	1283	c.764G>A	c.(763-765)cGc>cAc	p.R255H	TAOK1_ENST00000536202.1_Missense_Mutation_p.R255H	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GATTATTTTCGCAACTTTGTA	0.333																																						ENST00000261716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(763-765)cGc>cAc		TAO kinase 1							114	109	111					17																	27818816		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27818816G>A	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.764G>A	17.37:g.27818816G>A	ENSP00000261716:p.Arg255His					TAOK1_ENST00000536202.1_Missense_Mutation_p.R255H	p.R255H	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		10	1283	+			255			Protein kinase.		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.764G>A	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555611	0.86231	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	D;D	0.90261	-2.64;-2.64	5.19	5.19	0.71726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93468	0.7916	L	0.43554	1.36	0.80722	D	1	P;P;D	0.89917	0.662;0.793;1.0	P;P;D	0.83275	0.526;0.521;0.996	D	0.92881	0.6323	10	0.42905	T	0.14	.	19.0727	0.93147	0.0:0.0:1.0:0.0	.	255;81;255	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	H	255	ENSP00000261716:R255H;ENSP00000438819:R255H	ENSP00000261716:R255H	R	+	2	0	TAOK1	24842942	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.790000	0.99075	2.590000	0.87494	0.455000	0.32223	CGC		0.333	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		51	111	0	0	0	1	0	51	111					A	27818816	G	A	27818816	3	1	435	1	0	0	0	0	1	0	0	0	15544	1087	38	1	798	1	TAOK1	17	27818816	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	325287	27818816	53376394	7309	28234											
TAOK1	57551	broad.mit.edu	37	chr17	27849383	27849383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcaagaactggagttccGccacctcaacacaattcaga	14	8	7	12	1	2	2	2	0	0	2	3	3	3	3	3	1	3	2	3	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27849383G>A	ENST00000261716.3	+	17	2513	c.1994G>A	c.(1993-1995)cGc>cAc	p.R665H	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	665					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CTGGAGTTCCGCCACCTCAAC	0.433																																						ENST00000261716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1993-1995)cGc>cAc		TAO kinase 1							104	93	97					17																	27849383		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27849383G>A	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1994G>A	17.37:g.27849383G>A	ENSP00000261716:p.Arg665His					TAOK1_ENST00000536202.1_Intron	p.R665H	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		17	2513	+			665					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.1994G>A	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703172	0.96812	.	.	ENSG00000160551	ENST00000261716	T	0.52983	0.64	5.96	5.96	0.96718	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.73877	0.3643	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75900	-0.3154	10	0.87932	D	0	.	20.398	0.98986	0.0:0.0:1.0:0.0	.	665	Q7L7X3	TAOK1_HUMAN	H	665	ENSP00000261716:R665H	ENSP00000261716:R665H	R	+	2	0	TAOK1	24873509	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.863000	0.99569	2.827000	0.97445	0.643000	0.83706	CGC		0.433	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		34	54	0	0	0	1	0	34	54					A	27849383	G	A	27849383	3	1	435	1	0	0	0	0	1	0	0	0	15544	1087	38	1	2056	1	TAOK1	17	27849383	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	30567	27849383	53345827	7310	28235											
GIT1	28964	broad.mit.edu	37	chr17	27903137	27903137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcactgaatagatggcgtCgtcctctagctcctggggat	7	11	13	10	2	1	2	0	1	1	1	4	3	3	3	2	3	2	2	2	3	3	2	rs374985717		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27903137C>T	ENST00000225394.3	-	15	1872	c.1624G>A	c.(1624-1626)Gac>Aac	p.D542N	GIT1_ENST00000579937.1_Missense_Mutation_p.D542N|GIT1_ENST00000581348.1_Missense_Mutation_p.D551N|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Missense_Mutation_p.D551N	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	542					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TAGATGGCGTCGTCCTCTAGC	0.607																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1624-1626)Gac>Aac		G protein-coupled receptor kinase interacting ArfGAP 1		C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	98	96	97		1651,1624	4.2	1	17		97	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GIT1	NM_001085454.1,NM_014030.3	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	551/771,542/762	27903137	1,13005	2203	4300	6503	SO:0001583	missense	28964				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	g.chr17:27903137C>T	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4272	protein-coding gene	gene with protein product		608434	"G protein-coupled receptor kinase interactor 1"			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.1624G>A	17.37:g.27903137C>T	ENSP00000225394:p.Asp542Asn					RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Missense_Mutation_p.D551N|GIT1_ENST00000579937.1_Missense_Mutation_p.D542N|GIT1_ENST00000581348.1_Missense_Mutation_p.D551N	p.D542N	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	15	1872	-			542					B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	c.1624G>A	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142745	0.57044	0.0	1.16E-4	ENSG00000108262	ENST00000225394;ENST00000394869	T;T	0.69926	-0.38;-0.44	5.21	4.17	0.49024	.	0.344692	0.31484	N	0.007570	T	0.46190	0.1380	N	0.08118	0	0.33729	D	0.617985	D;P;B;D	0.61080	0.98;0.564;0.429;0.989	B;B;B;P	0.44394	0.368;0.026;0.012;0.448	T	0.54450	-0.8292	10	0.19147	T	0.46	.	13.2569	0.60083	0.1582:0.8418:0.0:0.0	.	555;551;551;542	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	N	542;551	ENSP00000225394:D542N;ENSP00000378338:D551N	ENSP00000225394:D542N	D	-	1	0	GIT1	24927263	0.988000	0.35896	0.976000	0.42696	0.826000	0.46750	3.386000	0.52492	2.598000	0.87819	0.462000	0.41574	GAC		0.607	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		20	26	0	0	0	1	0	20	26					T	27903137	C	T	27903137	3	4	435	1	0	0	0	0	1	0	0	0	6396	884	31	2	685	2	GIT1	17	27903137	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	53754	27903137	53292073	7311	28236											
ANKRD13B	124930	broad.mit.edu	37	chr17	27939517	27939517	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgaggcagccccagcagCgagacgccttccccaggcag	8	3	14	16	3	0	1	0	0	0	1	1	3	1	1	5	2	4	3	5	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27939517C>T	ENST00000394859.3	+	12	1510	c.1356C>T	c.(1354-1356)agC>agT	p.S452S	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	452	Ser-rich.					endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						GCCCCAGCAGCGAGACGCCTT	0.682																																						ENST00000394859.3																			0				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						c.(1354-1356)agC>agT		ankyrin repeat domain 13B							22	23	23					17																	27939517		2196	4292	6488	SO:0001819	synonymous_variant	124930							g.chr17:27939517C>T	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"Ankyrin repeat domain containing"	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1356C>T	17.37:g.27939517C>T						RP11-68I3.2_ENST00000581474.1_RNA	p.S452S	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN			12	1510	+			452			Ser-rich.		Q8N7S9	Silent	SNP	ENST00000394859.3	37	c.1356C>T	CCDS11251.1																																																																																				0.682	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		2	0	0	0	0	1	0	2	0					T	27939517	C	T	27939517	2	4	435	1	0	0	0	0	0	0	0	1	642	767	27	1		1	ANKRD13B	17	27939517	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	36380	27939517	53255693	7312	28237											
CORO6	84940	broad.mit.edu	37	chr17	27943827	27943827	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtagtgcacgaaaggcggCtcgtcggtaatctcaaagta	12	8	13	8	4	1	0	1	0	1	0	4	1	1	0	0	4	1	5	0	4	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27943827C>T	ENST00000445145.2	-	7	898	c.897G>A	c.(895-897)gaG>gaA	p.E299E	CORO6_ENST00000456796.3_Silent_p.E65E|CORO6_ENST00000345068.5_Silent_p.E299E|CORO6_ENST00000580212.1_Silent_p.E259E|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000584969.1_Silent_p.E299E|CORO6_ENST00000577909.1_5'UTR|CORO6_ENST00000388767.3_Silent_p.E299E			Q6QEF8	CORO6_HUMAN	coronin 6	299					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CGAAAGGCGGCTCGTCGGTAA	0.582																																						ENST00000345068.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						c.(895-897)gaG>gaA		coronin 6							99	106	104					17																	27943827		2203	4300	6503	SO:0001819	synonymous_variant	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27943827C>T	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"Coronins", "WD repeat domain containing"	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.897G>A	17.37:g.27943827C>T						RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000388767.3_Silent_p.E299E|CORO6_ENST00000584969.1_Silent_p.E299E|CORO6_ENST00000577909.1_5'UTR|CORO6_ENST00000580212.1_Silent_p.E259E|CORO6_ENST00000445145.2_Silent_p.E299E|CORO6_ENST00000456796.3_Silent_p.E65E	p.E299E			Q6QEF8	CORO6_HUMAN			8	1110	-			299					B3KU26|Q71MF3|Q8WYH7|Q96K02	Silent	SNP	ENST00000445145.2	37	c.897G>A																																																																																					0.582	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854		34	56	0	0	0	1	0	34	56					T	27943827	C	T	27943827	2	4	435	1	0	0	0	0	0	0	0	1	3758	796	28	3		3	CORO6	17	27943827	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4310	27943827	53251383	7313	28238											
CORO6	84940	broad.mit.edu	37	chr17	27943974	27943974	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttgccacacaggtagacGatgctggagtcgggatcgta	10	8	13	10	3	0	1	0	0	0	1	2	4	0	3	2	3	2	3	2	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27943974G>A	ENST00000445145.2	-	6	841	c.840C>T	c.(838-840)atC>atT	p.I280I	CORO6_ENST00000456796.3_Silent_p.I46I|CORO6_ENST00000345068.5_Silent_p.I280I|CORO6_ENST00000580212.1_Silent_p.I240I|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000584969.1_Silent_p.I280I|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000388767.3_Silent_p.I280I			Q6QEF8	CORO6_HUMAN	coronin 6	280					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						ACAGGTAGACGATGCTGGAGT	0.617																																						ENST00000345068.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						c.(838-840)atC>atT		coronin 6							171	159	163					17																	27943974		2203	4300	6503	SO:0001819	synonymous_variant	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27943974G>A	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"Coronins", "WD repeat domain containing"	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.840C>T	17.37:g.27943974G>A						RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000388767.3_Silent_p.I280I|CORO6_ENST00000584969.1_Silent_p.I280I|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000580212.1_Silent_p.I240I|CORO6_ENST00000445145.2_Silent_p.I280I|CORO6_ENST00000456796.3_Silent_p.I46I	p.I280I			Q6QEF8	CORO6_HUMAN			7	1053	-			280					B3KU26|Q71MF3|Q8WYH7|Q96K02	Silent	SNP	ENST00000445145.2	37	c.840C>T																																																																																					0.617	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854		4	67	0	0	0	1	0	4	67					A	27943974	G	A	27943974	2	1	435	1	0	0	0	0	0	0	0	1	3758	1048	37	2		2	CORO6	17	27943974	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	147	27943974	53251236	7314	28239											
CORO6	84940	broad.mit.edu	37	chr17	27945843	27945843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctggggtcaatgatgcGcaaggtcttgtccttgcagg	6	14	13	8	1	3	1	1	1	2	0	4	1	4	1	1	4	2	2	1	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27945843G>A	ENST00000445145.2	-	4	599	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C	CORO6_ENST00000456796.3_5'Flank|CORO6_ENST00000345068.5_Missense_Mutation_p.R200C|CORO6_ENST00000580212.1_Missense_Mutation_p.R200C|RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.10_ENST00000582367.1_RNA|CORO6_ENST00000584969.1_Missense_Mutation_p.R200C|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.R200C			Q6QEF8	CORO6_HUMAN	coronin 6	200					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						TCAATGATGCGCAAGGTCTTG	0.597																																						ENST00000345068.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						c.(598-600)Cgc>Tgc		coronin 6							70	72	72					17																	27945843		2126	4228	6354	SO:0001583	missense	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27945843G>A	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"Coronins", "WD repeat domain containing"	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.598C>T	17.37:g.27945843G>A	ENSP00000393624:p.Arg200Cys					RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000388767.3_Missense_Mutation_p.R200C|CORO6_ENST00000584969.1_Missense_Mutation_p.R200C|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000580212.1_Missense_Mutation_p.R200C|CORO6_ENST00000445145.2_Missense_Mutation_p.R200C	p.R200C			Q6QEF8	CORO6_HUMAN			5	811	-			200					B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	ENST00000445145.2	37	c.598C>T		.	.	.	.	.	.	.	.	.	.	G	15.20	2.761699	0.49468	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145	T;T	0.68025	-0.3;-0.3	5.67	4.65	0.58169	.	0.222189	0.43919	D	0.000519	D	0.85775	0.5775	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88873	0.3334	10	0.87932	D	0	-5.6435	15.2358	0.73430	0.0:0.0:0.7694:0.2306	.	200	Q6QEF8-5	.	C	271;200;200	ENSP00000373419:R200C;ENSP00000393624:R200C	ENSP00000344562:R271C	R	-	1	0	CORO6	24969969	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.178000	0.71968	2.837000	0.97791	0.655000	0.94253	CGC		0.597	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854		7	10	0	0	0	1	0	7	10					A	27945843	G	A	27945843	3	1	435	1	0	0	0	0	1	0	0	0	3758	1087	38	1	848	1	CORO6	17	27945843	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1869	27945843	53249367	7315	28240											
SSH2	85464	broad.mit.edu	37	chr17	27958229	27958229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactcttggtcctccatcGcgtgcatgcctgagtctgtt	4	13	12	12	2	2	1	0	1	2	0	5	2	4	2	3	2	2	2	3	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27958229G>A	ENST00000269033.3	-	15	4053	c.3902C>T	c.(3901-3903)gCg>gTg	p.A1301V	SSH2_ENST00000540801.1_Missense_Mutation_p.A1328V|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1301					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		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						GTCCTCCATCGCGTGCATGCC	0.522																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				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						c.(3901-3903)gCg>gTg		slingshot protein phosphatase 2							79	74	75					17																	27958229		2203	4300	6503	SO:0001583	missense	85464				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	g.chr17:27958229G>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3902C>T	17.37:g.27958229G>A	ENSP00000269033:p.Ala1301Val					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.A1328V	p.A1301V	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			15	4053	-			1301					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.3902C>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	7.148	0.583128	0.13749	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.43294	0.95;0.95	5.96	3.37	0.38596	.	1.209730	0.05596	N	0.575434	T	0.35278	0.0926	L	0.47716	1.5	0.09310	N	1	B;B	0.18968	0.032;0.019	B;B	0.13407	0.009;0.004	T	0.22626	-1.0211	10	0.44086	T	0.13	-0.0843	3.9538	0.09380	0.1329:0.2111:0.53:0.126	.	1328;1301	F5H527;Q76I76	.;SSH2_HUMAN	V	1301;1328	ENSP00000269033:A1301V;ENSP00000444743:A1328V	ENSP00000269033:A1301V	A	-	2	0	SSH2	24982355	0.001000	0.12720	0.028000	0.17463	0.023000	0.10783	0.914000	0.28624	2.833000	0.97629	0.655000	0.94253	GCG		0.522	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		22	40	0	0	0	1	0	22	40					A	27958229	G	A	27958229	3	1	435	1	0	0	0	0	1	0	0	0	15184	1087	38	1	373	1	SSH2	17	27958229	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12386	27958229	53236981	7316	28241											
SSH2	85464	broad.mit.edu	37	chr17	27963449	27963449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggctgaattaaggctttgGatgcatggcaattgtcaaga	12	11	12	6	0	1	2	1	1	0	1	1	3	1	3	0	4	1	4	0	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27963449G>A	ENST00000269033.3	-	14	1869	c.1718C>T	c.(1717-1719)tCc>tTc	p.S573F	SSH2_ENST00000540801.1_Missense_Mutation_p.S600F|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	573					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		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						TAAGGCTTTGGATGCATGGCA	0.413																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				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						c.(1717-1719)tCc>tTc		slingshot protein phosphatase 2							100	93	95					17																	27963449		2203	4300	6503	SO:0001583	missense	85464				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	g.chr17:27963449G>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1718C>T	17.37:g.27963449G>A	ENSP00000269033:p.Ser573Phe					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.S600F	p.S573F	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			14	1869	-			573					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.1718C>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734423	0.69189	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.39056	1.1;1.1	6.16	5.18	0.71444	.	0.608979	0.17450	N	0.173807	T	0.58235	0.2108	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.998;0.996	D;P	0.65443	0.935;0.862	T	0.60016	-0.7345	10	0.87932	D	0	-6.2277	10.1445	0.42755	0.0671:0.0:0.7949:0.138	.	600;573	F5H527;Q76I76	.;SSH2_HUMAN	F	573;600	ENSP00000269033:S573F;ENSP00000444743:S600F	ENSP00000269033:S573F	S	-	2	0	SSH2	24987575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.090000	0.64498	1.586000	0.49944	0.650000	0.86243	TCC		0.413	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		30	46	0	0	0	1	0	30	46					A	27963449	G	A	27963449	3	1	435	1	0	0	0	0	1	0	0	0	15184	1174	41	3	2561	3	SSH2	17	27963449	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5220	27963449	53231761	7317	28242											
SSH2	85464	broad.mit.edu	37	chr17	27963743	27963743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgttgagttctagcccaGgtttgcagatgggttcgtgg	5	15	14	7	1	2	2	0	1	2	1	3	2	2	2	1	3	2	5	1	3	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27963743G>T	ENST00000269033.3	-	14	1575	c.1424C>A	c.(1423-1425)cCt>cAt	p.P475H	RP11-68I3.5_ENST00000581240.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.P502H|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	475					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		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						TTCTAGCCCAGGTTTGCAGAT	0.498																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				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						c.(1423-1425)cCt>cAt		slingshot protein phosphatase 2							264	232	243					17																	27963743		2203	4300	6503	SO:0001583	missense	85464				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	g.chr17:27963743G>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1424C>A	17.37:g.27963743G>T	ENSP00000269033:p.Pro475His					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.P502H	p.P475H	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			14	1575	-			475					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.1424C>A	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854777	0.71719	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.35973	1.28;1.28	6.16	5.19	0.71726	.	0.694265	0.14294	N	0.328764	T	0.48995	0.1531	L	0.34521	1.04	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61722	0.893;0.784	T	0.49908	-0.8889	10	0.72032	D	0.01	-2.2918	16.9484	0.86236	0.0:0.0:0.871:0.1289	.	502;475	F5H527;Q76I76	.;SSH2_HUMAN	H	475;502	ENSP00000269033:P475H;ENSP00000444743:P502H	ENSP00000269033:P475H	P	-	2	0	SSH2	24987869	0.996000	0.38824	0.997000	0.53966	0.959000	0.62525	7.768000	0.85345	1.603000	0.50134	-0.188000	0.12872	CCT		0.498	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		44	79	1	0	1.19451e-25	1	1.33414e-25	44	79					T	27963743	G	T	27963743	3	4	435	1	0	0	0	0	1	0	0	0	15184	1000	35	5	2855	5	SSH2	17	27963743	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	294	27963743	53231467	7318	28243											
SLC6A4	6532	broad.mit.edu	37	chr17	28530244	28530244	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagctatatatgtggggatGcaaatgaaagatgaggttcc	14	11	12	4	0	0	3	0	2	0	1	1	4	1	4	1	3	2	3	1	3	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:28530244G>A	ENST00000401766.2	-	13	2276	c.1764C>T	c.(1762-1764)tgC>tgT	p.C588C	SLC6A4_ENST00000261707.3_Silent_p.C588C|RP11-354P11.4_ENST00000581633.1_RNA			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	588					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	ATGTGGGGATGCAAATGAAAG	0.398																																						ENST00000401766.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(1762-1764)tgC>tgT		solute carrier family 6 (neurotransmitter transporter), member 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)						181	175	177					17																	28530244		2203	4300	6503	SO:0001819	synonymous_variant	6532				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	g.chr17:28530244G>A	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"Solute carriers"	11050	protein-coding gene	gene with protein product	"serotonin transporter 1"	182138	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1764C>T	17.37:g.28530244G>A						SLC6A4_ENST00000261707.3_Silent_p.C588C	p.C588C			P31645	SC6A4_HUMAN			13	2276	-			588					Q5EE02	Silent	SNP	ENST00000401766.2	37	c.1764C>T	CCDS11256.1																																																																																				0.398	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		22	79	0	0	0	1	0	22	79					A	28530244	G	A	28530244	2	1	435	1	0	0	0	0	0	0	0	1	14686	1311	46	3		3	SLC6A4	17	28530244	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	566501	28530244	52664966	7319	28244											
SLC6A4	6532	broad.mit.edu	37	chr17	28548969	28548969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagaattcaagggcgtcGtctccatcctgctggttagt	7	13	11	10	2	3	1	1	1	2	1	6	2	4	1	2	2	1	2	2	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:28548969G>A	ENST00000401766.2	-	2	520	c.8C>T	c.(7-9)aCg>aTg	p.T3M	SLC6A4_ENST00000261707.3_Missense_Mutation_p.T3M			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	3					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	CAAGGGCGTCGTCTCCATCCT	0.502																																						ENST00000401766.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(7-9)aCg>aTg		solute carrier family 6 (neurotransmitter transporter), member 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)						53	47	49					17																	28548969		2203	4300	6503	SO:0001583	missense	6532				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	g.chr17:28548969G>A	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"Solute carriers"	11050	protein-coding gene	gene with protein product	"serotonin transporter 1"	182138	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.8C>T	17.37:g.28548969G>A	ENSP00000385822:p.Thr3Met					SLC6A4_ENST00000261707.3_Missense_Mutation_p.T3M	p.T3M			P31645	SC6A4_HUMAN			2	520	-			3					Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.8C>T	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	G	9.553	1.116490	0.20795	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.75477	-0.94;-0.94	5.96	3.93	0.45458	.	1.112970	0.06543	N	0.743643	T	0.58566	0.2131	N	0.19112	0.55	0.22811	N	0.998705	P	0.39131	0.661	B	0.33454	0.164	T	0.52726	-0.8537	10	0.87932	D	0	.	5.9394	0.19184	0.0696:0.251:0.5499:0.1294	.	3	P31645	SC6A4_HUMAN	M	45;3;3	ENSP00000385822:T3M;ENSP00000261707:T3M	ENSP00000261707:T3M	T	-	2	0	SLC6A4	25573095	0.953000	0.32496	0.179000	0.23059	0.098000	0.18820	1.341000	0.33907	0.811000	0.34303	0.655000	0.94253	ACG		0.502	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		11	37	0	0	0	1	0	11	37					A	28548969	G	A	28548969	3	1	435	1	0	0	0	0	1	0	0	0	14686	1145	40	1	1936	1	SLC6A4	17	28548969	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18725	28548969	52646241	7320	28245											
GOSR1	9527	broad.mit.edu	37	chr17	28849325	28849325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaacctgaggaagcggCgggactcgctcatcctaggg	9	6	15	11	3	2	1	2	1	0	0	4	4	3	4	2	5	2	1	2	5	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:28849325C>T	ENST00000225724.5	+	9	754	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	GOSR1_ENST00000451249.2_Missense_Mutation_p.R226W|GOSR1_ENST00000467337.2_Missense_Mutation_p.R163W|GOSR1_ENST00000581721.1_Missense_Mutation_p.R214W	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	228					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						GAGGAAGCGGCGGGACTCGCT	0.493																																						ENST00000225724.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						c.(682-684)Cgg>Tgg		golgi SNAP receptor complex member 1							250	266	260					17																	28849325		2203	4300	6503	SO:0001583	missense	9527				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity	g.chr17:28849325C>T	AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"golgi integral membrane protein 2"	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.682C>T	17.37:g.28849325C>T	ENSP00000225724:p.Arg228Trp					GOSR1_ENST00000581721.1_Missense_Mutation_p.R214W|GOSR1_ENST00000451249.2_Missense_Mutation_p.R226W|GOSR1_ENST00000467337.2_Missense_Mutation_p.R163W	p.R228W	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN			9	754	+			228					J3KST5|O75392	Missense_Mutation	SNP	ENST00000225724.5	37	c.682C>T	CCDS11258.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362333	0.82353	.	.	ENSG00000108587	ENST00000225724;ENST00000451249;ENST00000414833	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85128	0.5626	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87518	0.2444	9	0.87932	D	0	-5.6712	14.423	0.67196	0.1472:0.8528:0.0:0.0	.	228;226	O95249;E9PCW1	GOSR1_HUMAN;.	W	228;226;163	.	ENSP00000225724:R228W	R	+	1	2	GOSR1	25873451	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.560000	0.45896	2.873000	0.98535	0.563000	0.77884	CGG		0.493	GOSR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256208.2			96	143	0	0	0	1	0	96	143					T	28849325	C	T	28849325	3	4	435	1	0	0	0	0	1	0	0	0	6577	759	27	1	716	1	GOSR1	17	28849325	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	300356	28849325	52345885	7321	28246											
CRLF3	51379	broad.mit.edu	37	chr17	29131012	29131012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtctcctgttcaatggtgtCcacctcttgcaaaagggtca	8	12	10	11	0	4	0	2	0	2	0	6	0	5	0	3	3	1	2	3	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:29131012C>T	ENST00000324238.6	-	2	368	c.244G>A	c.(244-246)Gac>Aac	p.D82N	CRLF3_ENST00000544695.1_Intron|CRLF3_ENST00000577725.1_5'Flank	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	82					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TCAATGGTGTCCACCTCTTGC	0.473																																					Pancreas(30;346 881 29244 33464 41299)	ENST00000324238.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(244-246)Gac>Aac		cytokine receptor-like factor 3							170	156	161					17																	29131012		2203	4300	6503	SO:0001583	missense	51379				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm		g.chr17:29131012C>T	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.244G>A	17.37:g.29131012C>T	ENSP00000318804:p.Asp82Asn					CRLF3_ENST00000544695.1_Intron	p.D82N	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN			2	368	-		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	82					A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	ENST00000324238.6	37	c.244G>A	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383474	0.82792	.	.	ENSG00000176390	ENST00000324238	T	0.26660	1.72	5.16	5.16	0.70880	.	0.192612	0.53938	D	0.000044	T	0.28764	0.0713	M	0.61703	1.905	0.80722	D	1	P	0.46142	0.873	B	0.43916	0.436	T	0.02385	-1.1167	10	0.18710	T	0.47	-26.3846	12.3853	0.55328	0.0:0.922:0.0:0.078	.	82	Q8IUI8	CRLF3_HUMAN	N	82	ENSP00000318804:D82N	ENSP00000318804:D82N	D	-	1	0	CRLF3	26155138	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.122000	0.64697	2.582000	0.87167	0.563000	0.77884	GAC		0.473	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1			45	77	0	0	0	1	0	45	77					T	29131012	C	T	29131012	3	4	435	1	0	0	0	0	1	0	0	0	3888	855	30	3	1112	3	CRLF3	17	29131012	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	281687	29131012	52064198	7322	28247											
C17orf42	79736	broad.mit.edu	37	chr17	29231393	29231393	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctgaagagaagagcttGtcaagtgcattttcgggctc	9	13	12	7	1	2	3	1	1	1	2	4	4	2	3	0	1	2	4	0	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:29231393G>A	ENST00000581216.1	-	2	807	c.186C>T	c.(184-186)gaC>gaT	p.D62D	TEFM_ENST00000580840.1_Silent_p.D62D	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	62					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										AGAAGAGCTTGTCAAGTGCAT	0.398																																						ENST00000580840.1																			0											c.(184-186)gaC>gaT		transcription elongation factor, mitochondrial							72	69	69					17																	29231393		1851	4101	5952	SO:0001819	synonymous_variant	79736				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	g.chr17:29231393G>A		CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 42"	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.186C>T	17.37:g.29231393G>A						TEFM_ENST00000581216.1_Silent_p.D62D	p.D62D			Q96QE5	TEFM_HUMAN			2	222	-			62					E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Silent	SNP	ENST00000581216.1	37	c.186C>T	CCDS42291.1																																																																																				0.398	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444498.1	NM_024683		16	61	0	0	0	1	0	16	61					A	29231393	G	A	29231393	2	1	435	1	0	0	0	0	0	0	0	1	1856	1368	48	3		3	C17orf42	17	29231393	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	100381	29231393	51963817	7323	28248											
EVI2A	2123	broad.mit.edu	37	chr17	29645977	29645977	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaaagaaaaaactgttgTcatcagaaaggcaagatgta	20	7	9	5	0	2	4	2	0	0	4	2	4	2	4	0	1	1	3	0	1	7	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:29645977T>C	ENST00000462804.2	-	2	454	c.55A>G	c.(55-57)Aca>Gca	p.T19A	EVI2A_ENST00000247270.3_Missense_Mutation_p.T42A|NF1_ENST00000581113.2_Intron|CTD-2370N5.3_ENST00000578584.1_5'Flank|NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.T19A	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	19					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		AAAACTGTTGTCATCAGAAAG	0.413																																						ENST00000247270.3																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(124-126)Aca>Gca		ecotropic viral integration site 2A							203	193	196					17																	29645977		2203	4300	6503	SO:0001583	missense	2123					integral to membrane	transmembrane receptor activity	g.chr17:29645977T>C	M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.55A>G	17.37:g.29645977T>C	ENSP00000420557:p.Thr19Ala					NF1_ENST00000356175.3_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.T19A|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000462804.2_Missense_Mutation_p.T19A|NF1_ENST00000358273.4_Intron	p.T42A	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN		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)	3	460	-		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)	19					B2R5X2|B4DHX8	Missense_Mutation	SNP	ENST00000462804.2	37	c.124A>G	CCDS42293.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860005	0.51482	.	.	ENSG00000126860	ENST00000394755;ENST00000462804;ENST00000461237;ENST00000247270	.	.	.	5.41	3.21	0.36854	.	0.463132	0.20808	N	0.085306	T	0.36826	0.0981	M	0.62723	1.935	0.19300	N	0.999973	B;B	0.13594	0.003;0.008	B;B	0.15484	0.013;0.007	T	0.34054	-0.9844	9	0.09084	T	0.74	.	5.329	0.15922	0.1307:0.1479:0.0:0.7214	.	19;42	P22794;P22794-2	EVI2A_HUMAN;.	A	19;15;19;42	.	ENSP00000247270:T42A	T	-	1	0	EVI2A	26670103	0.559000	0.26562	0.998000	0.56505	0.957000	0.61999	0.197000	0.17197	0.374000	0.24650	-0.290000	0.09829	ACA		0.413	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		46	99	0	0	0	1	0	46	99					C	29645977	T	C	29645977	3	2	435	1	0	0	0	0	1	0	0	0	5287	1667	58	4	659	4	EVI2A	17	29645977	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	414584	29645977	51549233	7324	28249											
NF1	4763	broad.mit.edu	37	chr17	29663474	29663474	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggcttctggaaatgtgAaattggtttcaagcaaggta	11	14	11	5	0	2	1	1	1	1	0	2	2	2	2	0	4	1	4	0	4	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:29663474A>G	ENST00000358273.4	+	41	6513	c.6130A>G	c.(6130-6132)Aaa>Gaa	p.K2044E	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Missense_Mutation_p.K2023E	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2044					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	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)		TGGAAATGTGAAATTGGTTTC	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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	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						c.(6130-6132)Aaa>Gaa		neurofibromin 1							104	90	95					17																	29663474		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	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	g.chr17:29663474A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6130A>G	17.37:g.29663474A>G	ENSP00000351015:p.Lys2044Glu	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.K2023E|NF1_ENST00000581113.2_3'UTR	p.K2044E	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	41	6513	+		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)	2044					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.6130A>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.510509	0.64522	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;T;D	0.92199	-2.99;-0.23;-2.99	5.63	5.63	0.86233	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	D	0.91988	0.7462	N	0.24115	0.695	0.80722	D	1	D;B	0.56035	0.974;0.138	D;B	0.70487	0.969;0.032	D	0.89682	0.3891	10	0.17832	T	0.49	.	15.3068	0.73998	1.0:0.0:0.0:0.0	.	2023;2044	P21359-2;P21359	.;NF1_HUMAN	E	2044;2023;1689	ENSP00000351015:K2044E;ENSP00000348498:K2023E;ENSP00000389907:K1689E	ENSP00000348498:K2023E	K	+	1	0	NF1	26687600	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.772000	0.91757	2.257000	0.74773	0.533000	0.62120	AAA		0.368	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		7	72	0	0	0	1	0	7	72					G	29663474	A	G	29663474	3	3	435	1	0	0	0	0	1	0	0	0	10356	247	9	4	6353	4	NF1	17	29663474	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	17497	29663474	51531736	7325	28250											
C17orf79	55352	broad.mit.edu	37	chr17	30179888	30179888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagtcctcattaaaaagatCgccaggctgttccttgggtg	9	11	10	11	1	1	1	1	0	0	1	4	1	3	1	4	2	0	2	4	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:30179888C>T	ENST00000302362.6	-	3	465	c.328G>A	c.(328-330)Gat>Aat	p.D110N	COPRS_ENST00000378634.2_Missense_Mutation_p.D98N	NM_018405.3	NP_060875.2	Q9NQ92	COPRS_HUMAN	coordinator of PRMT5, differentiation stimulator	110					histone H4-R3 methylation (GO:0043985)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone binding (GO:0042393)										TTAAAAAGATCGCCAGGCTGT	0.517																																						ENST00000378634.2																			0											c.(292-294)Gat>Aat		coordinator of PRMT5, differentiation stimulator							187	192	190					17																	30179888		2203	4300	6503	SO:0001583	missense	55352							g.chr17:30179888C>T	AJ272196	CCDS11268.1	17q11.2	2012-11-16	2012-11-16	2012-11-16	ENSG00000172301	ENSG00000172301			28848	protein-coding gene	gene with protein product	"cooperator of PRMT5"		"chromosome 17 open reading frame 79"	C17orf79		10843809, 18404153	Standard	NM_018405		Approved	TTP1, HSA272196, COPR5	uc002hgp.3	Q9NQ92	OTTHUMG00000132812	ENST00000302362.6:c.328G>A	17.37:g.30179888C>T	ENSP00000304327:p.Asp110Asn					COPRS_ENST00000302362.6_Missense_Mutation_p.D110N	p.D98N							3	545	-								A6NP14|E1P656|Q96EF5|Q96P75	Missense_Mutation	SNP	ENST00000302362.6	37	c.292G>A	CCDS11268.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851948	0.32699	.	.	ENSG00000172301	ENST00000302362;ENST00000378634	T;T	0.46063	0.88;0.88	5.37	3.18	0.36537	.	0.519813	0.17535	N	0.170752	T	0.24509	0.0594	L	0.27053	0.805	0.09310	N	1	P	0.39624	0.681	B	0.33121	0.158	T	0.07309	-1.0779	10	0.34782	T	0.22	-6.1781	7.8111	0.29232	0.1854:0.6353:0.1793:0.0	.	110	Q9NQ92	COPR5_HUMAN	N	110;98	ENSP00000304327:D110N;ENSP00000367901:D98N	ENSP00000304327:D110N	D	-	1	0	C17orf79	27204001	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	0.187000	0.16998	1.192000	0.43071	0.467000	0.42956	GAT		0.517	COPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256257.2	NM_018405		4	173	0	0	0	1	0	4	173					T	30179888	C	T	30179888	3	4	435	1	0	0	0	0	1	0	0	0	1884	884	31	2	234	2	C17orf79	17	30179888	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	516414	30179888	51015322	7326	28251											
PSMD11	5717	broad.mit.edu	37	chr17	30800864	30800864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactggaaaactgcgtactCatacttctatgaggcatttg	11	12	10	8	1	2	1	1	1	1	0	2	3	2	3	0	3	4	2	0	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:30800864C>T	ENST00000261712.3	+	7	952	c.689C>T	c.(688-690)tCa>tTa	p.S230L	PSMD11_ENST00000457654.2_Missense_Mutation_p.S230L	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	230	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.S230L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			ACTGCGTACTCATACTTCTAT	0.413																																					Ovarian(130;1038 1716 9294 11987 19279)	ENST00000261712.3																			2	Substitution - Missense(2)	p.S230L(2)	lung(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(688-690)tCa>tTa		proteasome (prosome, macropain) 26S subunit, non-ATPase, 11							186	151	163					17																	30800864		2203	4300	6503	SO:0001583	missense	5717				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	g.chr17:30800864C>T	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"Proteasome (prosome, macropain) subunits"	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.689C>T	17.37:g.30800864C>T	ENSP00000261712:p.Ser230Leu					PSMD11_ENST00000457654.2_Missense_Mutation_p.S230L	p.S230L	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		7	952	+		Breast(31;0.159)|Ovarian(249;0.182)	230			PCI.		A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	c.689C>T	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209922	0.58343	.	.	ENSG00000108671	ENST00000261712	T	0.48522	0.81	5.27	5.27	0.74061	PCI/PINT associated module (1);	0.000000	0.85682	D	0.000000	T	0.78214	0.4248	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.84588	0.0665	10	0.87932	D	0	-5.8107	16.4142	0.83728	0.0:1.0:0.0:0.0	.	230;230	B4DTS5;O00231	.;PSD11_HUMAN	L	230	ENSP00000261712:S230L	ENSP00000261712:S230L	S	+	2	0	PSMD11	27824977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.647000	0.83462	2.735000	0.93741	0.655000	0.94253	TCA		0.413	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		34	58	0	0	0	1	0	34	58					T	30800864	C	T	30800864	3	4	435	1	0	0	0	0	1	0	0	0	12694	838	29	3	715	3	PSMD11	17	30800864	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	620976	30800864	50394346	7327	28252											
SPACA3	124912	broad.mit.edu	37	chr17	31323938	31323938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgggagcaccaacaacGggatcttccagatcaacagc	13	6	10	12	1	2	2	1	1	1	1	3	4	3	4	2	2	5	1	2	2	3	1	rs370068963		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:31323938G>A	ENST00000269053.3	+	3	491	c.421G>A	c.(421-423)Ggg>Agg	p.G141R	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_Missense_Mutation_p.G72R|SPACA3_ENST00000394638.1_Missense_Mutation_p.G38R	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	141					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CACCAACAACGGGATCTTCCA	0.592																																						ENST00000580599.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18						c.(214-216)Ggg>Agg		sperm acrosome associated 3		G	ARG/GLY	0,4406		0,0,2203	109	98	102		421	4.7	1	17		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPACA3	NM_173847.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	141/216	31323938	1,13005	2203	4300	6503	SO:0001583	missense	124912				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	g.chr17:31323938G>A	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"cancer/testis antigen 54", "sperm lyzozyme-like acrosomal protein 1"	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.421G>A	17.37:g.31323938G>A	ENSP00000269053:p.Gly141Arg					SPACA3_ENST00000269053.3_Missense_Mutation_p.G141R|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Missense_Mutation_p.G38R	p.G72R			Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)		4	623	+			141					Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	c.214G>A	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437188	0.62955	0.0	1.16E-4	ENSG00000141316	ENST00000269053;ENST00000394638;ENST00000394637;ENST00000411740	D;D	0.97232	-4.3;-4.3	4.71	4.71	0.59529	Lysozyme-like domain (1);	0.000000	0.64402	D	0.000002	D	0.98950	0.9643	H	0.97611	4.04	0.40514	D	0.980764	D	0.89917	1.0	D	0.97110	1.0	D	0.99509	1.0955	10	0.87932	D	0	-4.7698	13.022	0.58794	0.0:0.0:1.0:0.0	.	141	Q8IXA5	SACA3_HUMAN	R	141;38;142;49	ENSP00000269053:G141R;ENSP00000378134:G38R	ENSP00000269053:G141R	G	+	1	0	SPACA3	28348051	1.000000	0.71417	0.997000	0.53966	0.440000	0.31957	5.970000	0.70431	2.442000	0.82660	0.297000	0.19635	GGG		0.592	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847		23	46	0	0	0	1	0	23	46					A	31323938	G	A	31323938	3	1	435	1	0	0	0	0	1	0	0	0	14973	1116	39	2	431	2	SPACA3	17	31323938	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	523074	31323938	49871272	7328	28253											
ACCN1	40	broad.mit.edu	37	chr17	32483083	32483083	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggcccacacggtgcaGgaactccagcatgctgaact	10	7	11	13	1	1	1	1	1	0	0	2	2	2	2	2	3	5	3	2	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:32483083G>A	ENST00000359872.6	-	1	1230	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	157					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	ACACGGTGCAGGAACTCCAGC	0.577																																						ENST00000359872.6																			0											c.(469-471)Ctg>Ttg		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						103	110	108					17																	32483083		2129	4252	6381	SO:0001819	synonymous_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483083G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.469C>T	17.37:g.32483083G>A							p.L157L	NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN			1	1230	-			157					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.469C>T	CCDS42296.1																																																																																				0.577	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		42	49	0	0	0	1	0	42	49					A	32483083	G	A	32483083	2	1	435	1	0	0	0	0	0	0	0	1	128	991	35	3		3	ACCN1	17	32483083	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1159145	32483083	48712127	7329	28254											
CCL8	6355	broad.mit.edu	37	chr17	32647883	32647883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggagagatgggtcagggattCcatgaagcatctggaccaaa	13	7	14	7	0	2	2	1	1	1	1	3	6	3	5	2	4	1	1	2	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:32647883C>T	ENST00000394620.1	+	3	723	c.257C>T	c.(256-258)tCc>tTc	p.S86F		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	86					calcium ion transport (GO:0006816)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|exocytosis (GO:0006887)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				GTCAGGGATTCCATGAAGCAT	0.468																																						ENST00000394620.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(256-258)tCc>tTc		chemokine (C-C motif) ligand 8							73	65	68					17																	32647883		2203	4300	6503	SO:0001583	missense	6355				calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity	g.chr17:32647883C>T	X99886	CCDS11280.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108700	ENSG00000108700		"Chemokine ligands", "Endogenous ligands"	10635	protein-coding gene	gene with protein product		602283	"small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)"	SCYA8		9119400	Standard	NM_005623		Approved	MCP-2, HC14	uc002hib.3	P80075	OTTHUMG00000132883	ENST00000394620.1:c.257C>T	17.37:g.32647883C>T	ENSP00000378118:p.Ser86Phe						p.S86F	NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN			3	723	+		Ovarian(249;0.0443)|Breast(31;0.151)	86					A0AV77|P78388	Missense_Mutation	SNP	ENST00000394620.1	37	c.257C>T	CCDS11280.1	.	.	.	.	.	.	.	.	.	.	C	8.872	0.949562	0.18356	.	.	ENSG00000108700	ENST00000394620;ENST00000225840	.	.	.	5.34	-2.1	0.07210	Chemokine interleukin-8-like domain (3);	1.965260	0.02625	N	0.103653	T	0.17152	0.0412	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.17979	0.02	T	0.09228	-1.0684	8	0.15066	T	0.55	.	0.8967	0.01265	0.161:0.2988:0.1566:0.3836	.	86	P80075	CCL8_HUMAN	F	96;86	.	ENSP00000225840:S86F	S	+	2	0	CCL8	29671996	0.000000	0.05858	0.056000	0.19401	0.660000	0.38997	-1.172000	0.03112	0.008000	0.14787	0.563000	0.77884	TCC		0.468	CCL8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256376.2	NM_005623		8	13	0	0	0	1	0	8	13					T	32647883	C	T	32647883	3	4	435	1	0	0	0	0	1	0	0	0	2907	855	30	3	267	3	CCL8	17	32647883	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	164800	32647883	48547327	7330	28255											
TMEM132E	124842	broad.mit.edu	37	chr17	32964564	32964564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggagctggcccgccgggCtctgcgctacccgcaccgga	4	4	16	17	6	1	0	0	0	1	0	1	2	1	2	4	5	3	4	4	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:32964564C>T	ENST00000321639.5	+	10	2596	c.2268C>T	c.(2266-2268)ggC>ggT	p.G756G		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	756						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCCCGCCGGGCTCTGCGCTAC	0.746																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(2266-2268)ggC>ggT		transmembrane protein 132E							8	10	9					17																	32964564		2099	4128	6227	SO:0001819	synonymous_variant	124842					integral to membrane		g.chr17:32964564C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2268C>T	17.37:g.32964564C>T							p.G756G	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2596	+			756					Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	c.2268C>T	CCDS11283.1																																																																																				0.746	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		6	11	0	0	0	1	0	6	11					T	32964564	C	T	32964564	2	4	435	1	0	0	0	0	0	0	0	1	16045	784	28	3		3	TMEM132E	17	32964564	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	316681	32964564	48230646	7331	28256											
ZNF830	91603	broad.mit.edu	37	chr17	33289429	33289429	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaattccaaaaagccatgAggcaggtcaacactatttcc	15	8	7	11	1	1	1	1	1	0	0	3	2	3	1	3	2	2	1	3	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:33289429A>T	ENST00000361952.3	+	1	881	c.844A>T	c.(844-846)Agg>Tgg	p.R282W	CCT6B_ENST00000314144.5_5'Flank|CCT6B_ENST00000421975.3_5'Flank|CCT6B_ENST00000436961.3_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	282					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				AAAAGCCATGAGGCAGGTCAA	0.483																																						ENST00000361952.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(844-846)Agg>Tgg		zinc finger protein 830							113	97	103					17																	33289429		2203	4300	6503	SO:0001583	missense	91603				cell division|mitosis	cytoplasm|nucleus	metal ion binding	g.chr17:33289429A>T	AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"orphan maintenance of genome 1"		"coiled-coil domain containing 16"	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.844A>T	17.37:g.33289429A>T	ENSP00000354518:p.Arg282Trp						p.R282W	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN			1	881	+		Ovarian(249;0.17)	282					Q96F60|Q96GZ5|Q9BU38	Missense_Mutation	SNP	ENST00000361952.3	37	c.844A>T	CCDS32618.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.913480	0.72983	.	.	ENSG00000198783	ENST00000361952	T	0.15487	2.42	6.08	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	M	0.73598	2.24	0.53005	D	0.999965	D	0.89917	1.0	D	0.97110	1.0	T	0.12293	-1.0553	10	0.87932	D	0	-21.9137	10.2954	0.43620	0.6811:0.3189:0.0:0.0	.	282	Q96NB3	ZN830_HUMAN	W	282	ENSP00000354518:R282W	ENSP00000354518:R282W	R	+	1	2	ZNF830	30313542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.134000	0.42102	0.473000	0.27368	0.533000	0.62120	AGG		0.483	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1	NM_052857		20	25	0	0	0	1	0	20	25					T	33289429	A	T	33289429	3	4	435	1	0	0	0	0	1	0	0	0	18181	295	11	5	846	5	ZNF830	17	33289429	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	324865	33289429	47905781	7332	28257											
RFFL	117584	broad.mit.edu	37	chr17	33339066	33339066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatgcgcttgccacacttgGtacaggttaccatgtggcca	8	11	10	12	1	1	0	1	0	0	0	1	0	1	0	3	3	4	3	3	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:33339066G>A	ENST00000315249.7	-	7	1235	c.1013C>T	c.(1012-1014)aCc>aTc	p.T338I	RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.T247I|RFFL_ENST00000394597.2_Missense_Mutation_p.T338I|RFFL_ENST00000415395.2_Missense_Mutation_p.T338I|RP5-837J1.2_ENST00000578488.1_RNA|RFFL_ENST00000584655.1_Missense_Mutation_p.T302I|RFFL_ENST00000268850.7_Missense_Mutation_p.T302I|RFFL_ENST00000413582.2_Missense_Mutation_p.T330I|RFFL_ENST00000378516.2_Missense_Mutation_p.T330I|RFFL_ENST00000447669.2_Missense_Mutation_p.T338I					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GCCACACTTGGTACAGGTTAC	0.517																																						ENST00000315249.7																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(1012-1014)aCc>aTc		ring finger and FYVE-like domain containing E3 ubiquitin protein ligase							149	112	125					17																	33339066		2203	4300	6503	SO:0001583	missense	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33339066G>A	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"RING-type (C3HC4) zinc fingers"	24821	protein-coding gene	gene with protein product		609735	"ring finger and FYVE-like domain containing"			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.1013C>T	17.37:g.33339066G>A	ENSP00000326170:p.Thr338Ile					RFFL_ENST00000413582.2_Missense_Mutation_p.T330I|RFFL_ENST00000415395.2_Missense_Mutation_p.T338I|RFFL_ENST00000394597.2_Missense_Mutation_p.T338I|RFFL_ENST00000268850.7_Missense_Mutation_p.T302I|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.T247I|RFFL_ENST00000584655.1_Missense_Mutation_p.T302I|RFFL_ENST00000378516.2_Missense_Mutation_p.T330I|RFFL_ENST00000447669.2_Missense_Mutation_p.T338I	p.T338I			Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	7	1235	-		Ovarian(249;0.17)	338						Missense_Mutation	SNP	ENST00000315249.7	37	c.1013C>T	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150585	0.94645	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.64	5.64	0.86602	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.092424	0.85682	D	0.000000	T	0.79930	0.4531	N	0.13098	0.295	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.87578	0.899;0.998;0.996	T	0.79230	-0.1889	10	0.35671	T	0.21	-25.3539	18.8715	0.92317	0.0:0.0:1.0:0.0	.	302;338;330	Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;RFFL_HUMAN;.	I	338;338;330;302	ENSP00000326170:T338I;ENSP00000378096:T338I;ENSP00000367777:T330I;ENSP00000268850:T302I	ENSP00000268850:T302I	T	-	2	0	RFFL	30363179	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.937000	0.99478	0.650000	0.86243	ACC		0.517	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		16	19	0	0	0	1	0	16	19					A	33339066	G	A	33339066	3	1	435	1	0	0	0	0	1	0	0	0	13250	1261	44	3	82	3	RFFL	17	33339066	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	49637	33339066	47856144	7333	28258											
SLFN13	146857	broad.mit.edu	37	chr17	33768113	33768113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggctatttcatctgcattgCgaactactctggtgagctct	7	14	9	11	2	4	1	1	1	3	0	4	2	4	1	0	2	5	3	0	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:33768113C>T	ENST00000285013.6	-	6	2470	c.2195G>A	c.(2194-2196)cGc>cAc	p.R732H	SLFN13_ENST00000534689.1_Missense_Mutation_p.R414H|SLFN13_ENST00000360502.2_Missense_Mutation_p.R414H|SLFN13_ENST00000542635.1_Missense_Mutation_p.R732H|SLFN13_ENST00000526861.1_Missense_Mutation_p.R732H|SLFN13_ENST00000533791.1_Missense_Mutation_p.R732H	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	732						intracellular (GO:0005622)	ATP binding (GO:0005524)			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)		ATCTGCATTGCGAACTACTCT	0.443																																						ENST00000285013.6																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(2194-2196)cGc>cAc		schlafen family member 13							140	150	147					17																	33768113		2203	4300	6503	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33768113C>T	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2195G>A	17.37:g.33768113C>T	ENSP00000285013:p.Arg732His					SLFN13_ENST00000533791.1_Missense_Mutation_p.R732H|SLFN13_ENST00000534689.1_Missense_Mutation_p.R414H|SLFN13_ENST00000526861.1_Missense_Mutation_p.R732H|SLFN13_ENST00000542635.1_Missense_Mutation_p.R732H|SLFN13_ENST00000360502.2_Missense_Mutation_p.R414H	p.R732H	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	6	2470	-			732					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.2195G>A	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	c	13.21	2.168588	0.38315	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71	3.41	1.32	0.21799	.	0.000000	0.48767	D	0.000166	D	0.96800	0.8955	L	0.52573	1.65	0.09310	N	1	D;D	0.76494	0.999;0.98	D;P	0.67231	0.95;0.735	D	0.90647	0.4579	10	0.30854	T	0.27	.	4.1677	0.10315	0.0:0.6168:0.2452:0.138	.	414;732	Q68D06-2;Q68D06	.;SLN13_HUMAN	H	732;414;732;732;414	ENSP00000285013:R732H;ENSP00000353692:R414H;ENSP00000434439:R732H;ENSP00000444016:R732H;ENSP00000435442:R414H	ENSP00000285013:R732H	R	-	2	0	SLFN13	30792226	0.018000	0.18449	0.388000	0.26195	0.157000	0.22087	0.769000	0.26604	0.732000	0.32470	0.407000	0.27541	CGC		0.443	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		49	102	0	0	0	1	0	49	102					T	33768113	C	T	33768113	3	4	435	1	0	0	0	0	1	0	0	0	14736	768	27	1	502	1	SLFN13	17	33768113	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	429047	33768113	47427097	7334	28259											
SLFN13	146857	broad.mit.edu	37	chr17	33769058	33769058	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgcagtagtcctggccCtctgcatcctgctccctgag	5	10	11	15	1	1	1	0	1	1	0	4	2	4	1	4	1	3	4	4	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:33769058C>A	ENST00000285013.6	-	5	1721	c.1446G>T	c.(1444-1446)gaG>gaT	p.E482D	SLFN13_ENST00000534689.1_Missense_Mutation_p.E164D|SLFN13_ENST00000360502.2_Missense_Mutation_p.E164D|SLFN13_ENST00000542635.1_Missense_Mutation_p.E482D|SLFN13_ENST00000526861.1_Missense_Mutation_p.E482D|SLFN13_ENST00000533791.1_Missense_Mutation_p.E482D	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	482						intracellular (GO:0005622)	ATP binding (GO:0005524)			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)		AGTCCTGGCCCTCTGCATCCT	0.552																																						ENST00000285013.6																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(1444-1446)gaG>gaT		schlafen family member 13																																				SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33769058C>A	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1446G>T	17.37:g.33769058C>A	ENSP00000285013:p.Glu482Asp					SLFN13_ENST00000533791.1_Missense_Mutation_p.E482D|SLFN13_ENST00000534689.1_Missense_Mutation_p.E164D|SLFN13_ENST00000526861.1_Missense_Mutation_p.E482D|SLFN13_ENST00000542635.1_Missense_Mutation_p.E482D|SLFN13_ENST00000360502.2_Missense_Mutation_p.E164D	p.E482D	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	5	1721	-			482					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.1446G>T	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	c	2.489	-0.317978	0.05386	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	T;T;T;T;T	0.03635	4.45;3.86;4.45;4.45;3.86	3.05	-6.09	0.02145	.	2.039240	0.02537	N	0.094252	T	0.02455	0.0075	L	0.29908	0.895	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.001	T	0.43621	-0.9380	10	0.14656	T	0.56	.	1.6437	0.02757	0.3338:0.2355:0.3158:0.1149	.	164;482	Q68D06-2;Q68D06	.;SLN13_HUMAN	D	482;164;482;482;164	ENSP00000285013:E482D;ENSP00000353692:E164D;ENSP00000434439:E482D;ENSP00000444016:E482D;ENSP00000435442:E164D	ENSP00000285013:E482D	E	-	3	2	SLFN13	30793171	0.000000	0.05858	0.000000	0.03702	0.256000	0.26092	-4.616000	0.00208	-1.279000	0.02405	0.194000	0.17425	GAG		0.552	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		24	51	1	0	6.12954e-19	1	6.77144e-19	24	51					A	33769058	C	A	33769058	3	1	435	1	0	0	0	0	1	0	0	0	14736	680	24	5	1255	5	SLFN13	17	33769058	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	945	33769058	47426152	7335	28260											
AP2B1	163	broad.mit.edu	37	chr17	33966626	33966626	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcaggtatgaaagtatCatcgccactctgtgtgagaa	12	12	9	8	1	4	2	3	2	1	1	5	3	4	2	1	1	0	2	1	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:33966626C>A	ENST00000262325.7	+	11	1837	c.1284C>A	c.(1282-1284)atC>atA	p.I428I	AP2B1_ENST00000589344.1_Silent_p.I428I|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Silent_p.I428I|AP2B1_ENST00000312678.8_Silent_p.I428I|AP2B1_ENST00000538556.1_Silent_p.I371I|AP2B1_ENST00000592545.1_Silent_p.I390I	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	428					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ATGAAAGTATCATCGCCACTC	0.398																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1282-1284)atC>atA		adaptor-related protein complex 2, beta 1 subunit							99	95	97					17																	33966626		2203	4300	6503	SO:0001819	synonymous_variant	163				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	g.chr17:33966626C>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1284C>A	17.37:g.33966626C>A						AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Silent_p.I428I|AP2B1_ENST00000589344.1_Silent_p.I428I|AP2B1_ENST00000312678.8_Silent_p.I428I|AP2B1_ENST00000592545.1_Silent_p.I390I|AP2B1_ENST00000538556.1_Silent_p.I371I	p.I428I	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	11	1837	+		Ovarian(249;0.17)	428					A6NJP3|P21851|Q7Z451|Q96J19	Silent	SNP	ENST00000262325.7	37	c.1284C>A	CCDS32622.1																																																																																				0.398	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			24	47	1	0	3.01185e-09	1	3.19065e-09	24	47					A	33966626	C	A	33966626	2	1	435	1	0	0	0	0	0	0	0	1	741	816	29	5		5	AP2B1	17	33966626	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	197568	33966626	47228584	7336	28261											
GAS2L2	246176	broad.mit.edu	37	chr17	34072633	34072633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccactgcgagggatgaccCcagaccttgtgccctgcgga	7	6	12	16	2	0	2	0	1	0	1	0	5	0	4	6	2	3	0	6	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:34072633C>T	ENST00000254466.6	-	6	1910	c.1883G>A	c.(1882-1884)gGg>gAg	p.G628E	GAS2L2_ENST00000587565.1_Missense_Mutation_p.G612E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	628					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGGATGACCCCAGACCTTGT	0.577																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1882-1884)gGg>gAg		growth arrest-specific 2 like 2							108	113	111					17																	34072633		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072633C>T	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1883G>A	17.37:g.34072633C>T	ENSP00000254466:p.Gly628Glu					GAS2L2_ENST00000587565.1_Missense_Mutation_p.G612E	p.G628E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1910	-		Ovarian(249;0.17)	628					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1883G>A	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.122562	0.00346	.	.	ENSG00000132139	ENST00000254466	T	0.16457	2.34	4.24	-3.53	0.04667	.	1.755940	0.03186	N	0.172678	T	0.08133	0.0203	N	0.24115	0.695	0.09310	N	1	B	0.30068	0.267	B	0.28139	0.086	T	0.16928	-1.0386	10	0.05620	T	0.96	1.1958	2.8764	0.05632	0.1279:0.3452:0.3617:0.1653	.	628	Q8NHY3	GA2L2_HUMAN	E	628	ENSP00000254466:G628E	ENSP00000254466:G628E	G	-	2	0	GAS2L2	31096746	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.196000	0.17176	-0.543000	0.06240	0.591000	0.81541	GGG		0.577	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		33	52	0	0	0	1	0	33	52					T	34072633	C	T	34072633	3	4	435	1	0	0	0	0	1	0	0	0	6247	623	22	3	763	3	GAS2L2	17	34072633	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	106007	34072633	47122577	7337	28262											
LYZL6	57151	broad.mit.edu	37	chr17	34266305	34266305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacagcgactgatgaggctgGcctgatttagggcaagaaag	12	7	14	8	1	0	4	0	3	0	1	0	5	0	4	1	3	1	2	1	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:34266305G>A	ENST00000585556.1	-	2	390	c.56C>T	c.(55-57)gCc>gTc	p.A19V	LYZL6_ENST00000293274.4_Missense_Mutation_p.A19V|LYZL6_ENST00000394523.3_Missense_Mutation_p.A19V|LYZL6_ENST00000492340.2_5'Flank			O75951	LYZL6_HUMAN	lysozyme-like 6	19					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GATGAGGCTGGCCTGATTTAG	0.562																																						ENST00000585556.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12						c.(55-57)gCc>gTc		lysozyme-like 6							121	111	114					17																	34266305		2203	4300	6503	SO:0001583	missense	57151				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr17:34266305G>A	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.56C>T	17.37:g.34266305G>A	ENSP00000468094:p.Ala19Val					LYZL6_ENST00000394523.3_Missense_Mutation_p.A19V|LYZL6_ENST00000293274.4_Missense_Mutation_p.A19V	p.A19V			O75951	LYZL6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	390	-			19					Q6UW30	Missense_Mutation	SNP	ENST00000585556.1	37	c.56C>T	CCDS11302.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418424	0.62622	.	.	ENSG00000161572	ENST00000293274;ENST00000394523	T;T	0.69926	-0.44;-0.44	5.29	1.95	0.26073	Lysozyme-like domain (1);	0.461581	0.20593	N	0.089320	T	0.81163	0.4765	M	0.91768	3.24	0.09310	N	1	D	0.69078	0.997	D	0.64776	0.929	T	0.70673	-0.4807	10	0.87932	D	0	-5.3268	8.0439	0.30538	0.0:0.344:0.4908:0.1652	.	19	O75951	LYZL6_HUMAN	V	19	ENSP00000293274:A19V;ENSP00000378031:A19V	ENSP00000293274:A19V	A	-	2	0	LYZL6	31290418	0.003000	0.15002	0.027000	0.17364	0.100000	0.18952	0.554000	0.23407	0.703000	0.31848	0.655000	0.94253	GCC		0.562	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426		31	48	0	0	0	1	0	31	48					A	34266305	G	A	34266305	3	1	435	1	0	0	0	0	1	0	0	0	9134	1203	42	3	406	3	LYZL6	17	34266305	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	193672	34266305	46928905	7338	28263											
MYO19	80179	broad.mit.edu	37	chr17	34856988	34856988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagccgagtcaccagttatgGctgctgcctgagttaggacc	8	9	12	12	1	1	1	1	1	0	0	1	3	1	2	4	2	3	4	4	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:34856988G>A	ENST00000431794.3	-	22	2690	c.2168C>T	c.(2167-2169)gCc>gTc	p.A723V	MYO19_ENST00000268852.9_Missense_Mutation_p.A523V	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	723	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACCAGTTATGGCTGCTGCCTG	0.582																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(2167-2169)gCc>gTc		myosin XIX							91	98	95					17																	34856988		2139	4230	6369	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34856988G>A	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2168C>T	17.37:g.34856988G>A	ENSP00000409936:p.Ala723Val					MYO19_ENST00000268852.9_Missense_Mutation_p.A523V	p.A723V	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	22	2690	-		Breast(25;0.00957)|Ovarian(249;0.17)	723					Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.2168C>T	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281492	0.40394	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.95171	-3.63;-3.63	4.71	4.71	0.59529	Myosin head, motor domain (1);	0.442627	0.16673	N	0.204267	D	0.92028	0.7474	M	0.62723	1.935	0.80722	D	1	B;P	0.36633	0.002;0.562	B;B	0.35353	0.002;0.201	D	0.89664	0.3879	10	0.17369	T	0.5	.	13.498	0.61436	0.0:0.0:1.0:0.0	.	723;523	Q96H55;Q96H55-4	MYO19_HUMAN;.	V	723;523	ENSP00000409936:A723V;ENSP00000268852:A523V	ENSP00000268852:A523V	A	-	2	0	MYO19	31931101	0.019000	0.18553	0.045000	0.18777	0.076000	0.17211	1.882000	0.39648	2.319000	0.78375	0.462000	0.41574	GCC		0.582	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		31	38	0	0	0	1	0	31	38					A	34856988	G	A	34856988	3	1	435	1	0	0	0	0	1	0	0	0	10067	1203	42	3	764	3	MYO19	17	34856988	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	590683	34856988	46338222	7339	28264											
MYO19	80179	broad.mit.edu	37	chr17	34863649	34863649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccatccctcacctgctggGcccttaggtagtgagccaca	7	8	9	17	0	1	1	1	1	0	0	2	1	2	1	6	2	2	2	6	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:34863649G>A	ENST00000431794.3	-	15	1868	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	449	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CACCTGCTGGGCCCTTAGGTA	0.512																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(1345-1347)gCc>gTc		myosin XIX							58	60	60					17																	34863649		2137	4268	6405	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34863649G>A	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1346C>T	17.37:g.34863649G>A	ENSP00000409936:p.Ala449Val					MYO19_ENST00000268852.9_Intron	p.A449V	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	15	1868	-		Breast(25;0.00957)|Ovarian(249;0.17)	449			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.1346C>T	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057557	0.36277	.	.	ENSG00000141140	ENST00000415126;ENST00000431794	D	0.95205	-3.64	5.76	4.8	0.61643	Myosin head, motor domain (2);	.	.	.	.	D	0.92883	0.7736	L	0.49256	1.55	0.80722	D	1	P	0.43094	0.799	B	0.43536	0.423	D	0.92959	0.6387	9	0.72032	D	0.01	.	13.3906	0.60823	0.076:0.0:0.924:0.0	.	449	Q96H55	MYO19_HUMAN	V	184;449	ENSP00000409936:A449V	ENSP00000397134:A184V	A	-	2	0	MYO19	31937762	1.000000	0.71417	0.068000	0.19968	0.965000	0.64279	6.141000	0.71744	1.450000	0.47717	0.655000	0.94253	GCC		0.512	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		9	6	0	0	0	1	0	9	6					A	34863649	G	A	34863649	3	1	435	1	0	0	0	0	1	0	0	0	10067	1203	42	3	1614	3	MYO19	17	34863649	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6661	34863649	46331561	7340	28265											
GGNBP2	79893	broad.mit.edu	37	chr17	34913159	34913159	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaaagaagctttatacAttattttatgtacatgggta	14	15	8	4	0	0	1	0	0	0	1	0	2	0	1	0	1	4	4	0	1	8	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:34913159A>G	ENST00000304718.4	+	4	727	c.411A>G	c.(409-411)acA>acG	p.T137T		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	137					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGCTTTATACATTATTTTATG	0.388																																						ENST00000304718.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(409-411)acA>acG		gametogenetin binding protein 2							76	74	75					17																	34913159		2203	4300	6503	SO:0001819	synonymous_variant	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34913159A>G	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.411A>G	17.37:g.34913159A>G							p.T137T	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	4	727	+		Breast(25;0.00957)|Ovarian(249;0.17)	137					B2RPK7|Q96T90|Q9GZR8|Q9H767	Silent	SNP	ENST00000304718.4	37	c.411A>G	CCDS11314.1																																																																																				0.388	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		10	36	0	0	0	1	0	10	36					G	34913159	A	G	34913159	2	3	435	1	0	0	0	0	0	0	0	1	6359	204	8	4		4	GGNBP2	17	34913159	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	49510	34913159	46282051	7341	28266											
GGNBP2	79893	broad.mit.edu	37	chr17	34943623	34943623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgcagaacctacagaaaCgttgtttggtcccgattccg	9	12	10	10	3	0	2	0	0	0	2	2	3	2	2	3	1	4	4	3	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:34943623C>T	ENST00000304718.4	+	13	2154	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	613					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CCTACAGAAACGTTGTTTGGT	0.463																																						ENST00000304718.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(1837-1839)aCg>aTg		gametogenetin binding protein 2							211	202	205					17																	34943623		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34943623C>T	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1838C>T	17.37:g.34943623C>T	ENSP00000307617:p.Thr613Met						p.T613M	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	13	2154	+		Breast(25;0.00957)|Ovarian(249;0.17)	613					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.1838C>T	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	C	7.284	0.609725	0.14066	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.93	2.88	0.33553	.	0.456645	0.24046	N	0.042058	T	0.21631	0.0521	N	0.08118	0	0.09310	N	0.999993	B	0.06786	0.001	B	0.04013	0.001	T	0.16100	-1.0414	9	0.48119	T	0.1	0.3811	8.5742	0.33587	0.0:0.6783:0.0:0.3217	.	613	Q9H3C7	GGNB2_HUMAN	M	613	.	ENSP00000307617:T613M	T	+	2	0	GGNBP2	32017736	0.617000	0.27043	0.003000	0.11579	0.725000	0.41563	0.957000	0.29215	0.403000	0.25479	0.561000	0.74099	ACG		0.463	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		55	79	0	0	0	1	0	55	79					T	34943623	C	T	34943623	3	4	435	1	0	0	0	0	1	0	0	0	6359	536	19	1	1884	1	GGNBP2	17	34943623	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30464	34943623	46251587	7342	28267											
ACACA	31	broad.mit.edu	37	chr17	35563696	35563696	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcccaaaagggacattataCcttatcctcatcataaagag	15	10	5	11	0	2	1	2	0	0	1	4	2	4	2	3	1	1	0	3	1	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:35563696C>T	ENST00000394406.2	-	32	4028		c.e32+1		ACACA_ENST00000360679.3_Splice_Site|ACACA_ENST00000335166.5_Splice_Site|ACACA_ENST00000353139.5_Splice_Site	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha						acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGACATTATACCTTATCCTCA	0.443																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.e32+1		acetyl-CoA carboxylase alpha	Biotin(DB00121)						115	93	100					17																	35563696		2203	4300	6503	SO:0001630	splice_region_variant	31				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	g.chr17:35563696C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3837+1G>A	17.37:g.35563696C>T						ACACA_ENST00000394406.2_Splice_Site|ACACA_ENST00000360679.3_Splice_Site|ACACA_ENST00000335166.5_Splice_Site		NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			32	4430	-		Breast(25;0.00157)|Ovarian(249;0.15)						B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Splice_Site	SNP	ENST00000394406.2	37		CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864771	0.32977	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1357	0.59407	0.0:0.9271:0.0:0.0728	.	.	.	.	.	-1	.	.	.	-	.	.	ACACA	32637809	1.000000	0.71417	1.000000	0.80357	0.355000	0.29361	3.440000	0.52886	2.703000	0.92315	0.460000	0.39030	.		0.443	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	Intron	15	19	0	0	0	1	0	15	19					T	35563696	C	T	35563696	5	4	435	1	0	0	0	0	0	0	1	0	106	521	18	3	3302	3	ACACA	17	35563696	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	620073	35563696	45631514	7343	28268											
ACACA	31	broad.mit.edu	37	chr17	35591985	35591985	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcacttttattctcttctcGgagggcgaatacacatttgt	8	16	8	9	2	3	0	1	0	2	0	5	2	3	1	0	2	1	0	0	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:35591985G>A	ENST00000394406.2	-	25	3230	c.3040C>T	c.(3040-3042)Cga>Tga	p.R1014*	ACACA_ENST00000360679.3_Nonsense_Mutation_p.R956*|ACACA_ENST00000335166.5_Nonsense_Mutation_p.R936*|ACACA_ENST00000353139.5_Nonsense_Mutation_p.R1051*	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1014					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCTTCTCGGAGGGCGAAT	0.393																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(3151-3153)Cga>Tga		acetyl-CoA carboxylase alpha	Biotin(DB00121)						193	158	170					17																	35591985		2203	4300	6503	SO:0001587	stop_gained	31				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	g.chr17:35591985G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3040C>T	17.37:g.35591985G>A	ENSP00000377928:p.Arg1014*					ACACA_ENST00000394406.2_Nonsense_Mutation_p.R1014*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.R956*|ACACA_ENST00000335166.5_Nonsense_Mutation_p.R936*	p.R1051*	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			25	3632	-		Breast(25;0.00157)|Ovarian(249;0.15)	1014					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Nonsense_Mutation	SNP	ENST00000394406.2	37	c.3151C>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	46	12.298322	0.99655	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5059	18.742	0.91777	0.0:0.0:1.0:0.0	.	.	.	.	X	1051;956;1014;1038;936	.	ENSP00000335323:R936X	R	-	1	2	ACACA	32666098	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	7.944000	0.87722	2.690000	0.91761	0.655000	0.94253	CGA		0.393	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		29	54	0	0	0	1	0	29	54					A	35591985	G	A	35591985	4	1	435	1	0	0	0	0	0	1	0	0	106	1124	39	2	4128	2	ACACA	17	35591985	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28289	35591985	45603225	7344	28269											
ACACA	31	broad.mit.edu	37	chr17	35632932	35632932	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctaaagcccacatggcctgGcttggaggacctaaaaacga	13	6	10	12	1	0	0	0	0	0	0	0	3	0	2	4	4	2	1	4	4	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:35632932G>A	ENST00000394406.2	-	8	892	c.702C>T	c.(700-702)agC>agT	p.S234S	ACACA_ENST00000360679.3_Silent_p.S176S|ACACA_ENST00000335166.5_Silent_p.S156S|ACACA_ENST00000353139.5_Silent_p.S271S	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	234	Biotin carboxylation.			S -> N (in Ref. 1; AAC50139). {ECO:0000305}.	acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACATGGCCTGGCTTGGAGGAC	0.463																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(811-813)agC>agT		acetyl-CoA carboxylase alpha	Biotin(DB00121)						123	124	124					17																	35632932		2203	4300	6503	SO:0001819	synonymous_variant	31				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	g.chr17:35632932G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.702C>T	17.37:g.35632932G>A						ACACA_ENST00000394406.2_Silent_p.S234S|ACACA_ENST00000360679.3_Silent_p.S176S|ACACA_ENST00000335166.5_Silent_p.S156S	p.S271S	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			8	1294	-		Breast(25;0.00157)|Ovarian(249;0.15)	234			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.813C>T	CCDS11317.1																																																																																				0.463	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		23	38	0	0	0	1	0	23	38					A	35632932	G	A	35632932	2	1	435	1	0	0	0	0	0	0	0	1	106	1194	42	3		3	ACACA	17	35632932	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	40947	35632932	45562278	7345	28270											
TADA2A	6871	broad.mit.edu	37	chr17	35836996	35836996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggaggcttaagactggCgcaggcaagagcactcatca	13	5	13	10	1	2	2	2	0	0	2	2	3	2	3	0	4	1	5	0	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:35836996C>T	ENST00000394395.2	+	16	1414	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	TADA2A_ENST00000225396.6_Missense_Mutation_p.A414V	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	414	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TTAAGACTGGCGCAGGCAAGA	0.443																																						ENST00000394395.2																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						c.(1240-1242)gCg>gTg		transcriptional adaptor 2A							176	179	178					17																	35836996		2203	4300	6503	SO:0001583	missense	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35836996C>T	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"transcriptional adaptor 2 (ADA2 homolog, yeast)-like"	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.1241C>T	17.37:g.35836996C>T	ENSP00000377918:p.Ala414Val					TADA2A_ENST00000225396.6_Missense_Mutation_p.A414V	p.A414V	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN			16	1414	+			414			SWIRM.		A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	c.1241C>T	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	C	36	5.608831	0.96637	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396	T;T	0.44881	0.91;0.91	5.93	5.93	0.95920	Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.69842	0.3156	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.68447	-0.5406	10	0.39692	T	0.17	-12.528	20.3398	0.98759	0.0:1.0:0.0:0.0	.	414	O75478	TAD2A_HUMAN	V	414;313;414	ENSP00000377918:A414V;ENSP00000225396:A414V	ENSP00000225396:A414V	A	+	2	0	TADA2A	32911109	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.629000	0.83207	2.811000	0.96726	0.557000	0.71058	GCG		0.443	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		41	89	0	0	0	1	0	41	89					T	35836996	C	T	35836996	3	4	435	1	0	0	0	0	1	0	0	0	15507	768	27	1	1394	1	TADA2A	17	35836996	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	204064	35836996	45358214	7346	28271											
DUSP14	11072	broad.mit.edu	37	chr17	35872544	35872544	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgtggcatcacctgcattgTtaatgctaccattgagatcc	9	13	8	11	1	1	1	1	1	0	1	3	2	2	1	3	1	3	4	3	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:35872544T>C	ENST00000487847.1	+	2	1148	c.170T>C	c.(169-171)gTt>gCt	p.V57A	DUSP14_ENST00000394389.4_Missense_Mutation_p.V57A|DUSP14_ENST00000394386.1_Missense_Mutation_p.V57A			O95147	DUS14_HUMAN	dual specificity phosphatase 14	57					peptidyl-tyrosine dephosphorylation (GO:0035335)		MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|poly(A) RNA binding (GO:0044822)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				ACCTGCATTGTTAATGCTACC	0.512																																						ENST00000487847.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(169-171)gTt>gCt		dual specificity phosphatase 14							116	96	103					17																	35872544		2203	4300	6503	SO:0001583	missense	11072						MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr17:35872544T>C	AF038844	CCDS11320.1	17q12	2014-05-06			ENSG00000161326	ENSG00000276023		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	17007	protein-coding gene	gene with protein product	"MKP-1 like protein tyrosine phosphatase"	606618				11123293	Standard	XM_005256977		Approved	MKP-L, MKP6	uc002hnx.2	O95147	OTTHUMG00000188472	ENST00000487847.1:c.170T>C	17.37:g.35872544T>C	ENSP00000466299:p.Val57Ala					DUSP14_ENST00000394386.1_Missense_Mutation_p.V57A|DUSP14_ENST00000394389.4_Missense_Mutation_p.V57A	p.V57A			O95147	DUS14_HUMAN			2	1148	+		Breast(25;0.00637)|Ovarian(249;0.15)	57						Missense_Mutation	SNP	ENST00000487847.1	37	c.170T>C	CCDS11320.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.528232	0.85706	.	.	ENSG00000161326	ENST00000394389;ENST00000394386	T;T	0.69306	-0.39;-0.39	6.16	6.16	0.99307	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.182306	0.47093	D	0.000259	T	0.74718	0.3753	M	0.84846	2.72	0.50467	D	0.999871	B	0.29590	0.25	B	0.35073	0.195	T	0.75944	-0.3139	10	0.87932	D	0	.	16.4675	0.84087	0.0:0.0:0.0:1.0	.	57	O95147	DUS14_HUMAN	A	57	ENSP00000377912:V57A;ENSP00000377910:V57A	ENSP00000377910:V57A	V	+	2	0	DUSP14	32946657	1.000000	0.71417	0.489000	0.27452	0.988000	0.76386	8.015000	0.88690	2.367000	0.80283	0.528000	0.53228	GTT		0.512	DUSP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256680.3	NM_007026		28	34	0	0	0	1	0	28	34					C	35872544	T	C	35872544	3	2	435	1	0	0	0	0	1	0	0	0	4814	1725	60	4	172	4	DUSP14	17	35872544	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	35548	35872544	45322666	7347	28272											
HNF1B	6928	broad.mit.edu	37	chr17	36091778	36091778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaagttggagcccaggcCgtgggctttggagggggaca	8	6	18	9	1	0	0	0	0	0	0	0	4	0	3	3	6	1	2	3	6	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36091778C>T	ENST00000225893.4	-	4	1214	c.853G>A	c.(853-855)Ggc>Agc	p.G285S	HNF1B_ENST00000427275.2_Missense_Mutation_p.G259S|HNF1B_ENST00000561193.1_Missense_Mutation_p.G259S|HNF1B_ENST00000560016.1_Missense_Mutation_p.G285S	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	285			G -> D (in RCAD). {ECO:0000269|PubMed:16249435}.		anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			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)			GAGCCCAGGCCGTGGGCTTTG	0.612																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				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						c.(853-855)Ggc>Agc		HNF1 homeobox B							102	94	97					17																	36091778		2203	4300	6503	SO:0001583	missense	6928				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	g.chr17:36091778C>T	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.853G>A	17.37:g.36091778C>T	ENSP00000225893:p.Gly285Ser					HNF1B_ENST00000561193.1_Missense_Mutation_p.G259S|HNF1B_ENST00000560016.1_Missense_Mutation_p.G285S|HNF1B_ENST00000427275.2_Missense_Mutation_p.G259S	p.G285S	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		4	1214	-		Breast(25;0.00765)|Ovarian(249;0.15)	285		G -> D (in RCAD).			B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.853G>A	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235789	0.95240	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	D;D	0.95447	-3.71;-3.71	5.56	5.56	0.83823	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.186864	0.56097	D	0.000021	D	0.97167	0.9074	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.994;0.987	D	0.96131	0.9092	10	0.37606	T	0.19	-23.0595	18.6764	0.91529	0.0:1.0:0.0:0.0	.	259;285;285	E0YMJ6;P35680-3;P35680	.;.;HNF1B_HUMAN	S	285;259;285;173	ENSP00000225893:G285S;ENSP00000412212:G259S	ENSP00000225893:G285S	G	-	1	0	HNF1B	33165891	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	7.320000	0.79064	2.890000	0.99128	0.655000	0.94253	GGC		0.612	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		19	47	0	0	0	1	0	19	47					T	36091778	C	T	36091778	3	4	435	1	0	0	0	0	1	0	0	0	7252	652	23	2	844	2	HNF1B	17	36091778	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	219234	36091778	45103432	7348	28273											
HNF1B	6928	broad.mit.edu	37	chr17	36093663	36093663	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccatttgaaccggttgcgGcgcatcttcttgttggtggg	4	13	13	11	3	2	1	0	1	2	0	2	1	2	1	3	4	2	3	3	4	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36093663G>C	ENST00000225893.4	-	3	1057	c.696C>G	c.(694-696)cgC>cgG	p.R232R	HNF1B_ENST00000427275.2_Silent_p.R206R|HNF1B_ENST00000561193.1_Silent_p.R206R|HNF1B_ENST00000560016.1_Silent_p.R232R	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	232					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			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)			ACCGGTTGCGGCGCATCTTCT	0.567																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				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						c.(694-696)cgC>cgG		HNF1 homeobox B							90	84	86					17																	36093663		2203	4300	6503	SO:0001819	synonymous_variant	6928				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	g.chr17:36093663G>C	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.696C>G	17.37:g.36093663G>C						HNF1B_ENST00000561193.1_Silent_p.R206R|HNF1B_ENST00000560016.1_Silent_p.R232R|HNF1B_ENST00000427275.2_Silent_p.R206R	p.R232R	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		3	1057	-		Breast(25;0.00765)|Ovarian(249;0.15)	232					B4DKM3|E0YMJ9	Silent	SNP	ENST00000225893.4	37	c.696C>G	CCDS11324.1																																																																																				0.567	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		16	28	0	0	0	1	0	16	28					C	36093663	G	C	36093663	2	2	435	1	0	0	0	0	0	0	0	1	7252	1190	42	5		5	HNF1B	17	36093663	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1885	36093663	45101547	7349	28274											
MRPL45	84311	broad.mit.edu	37	chr17	36455359	36455359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctgagggtgatgcacGcatatcatctctttcaaagg	9	12	9	11	1	3	2	2	2	1	0	6	2	5	2	2	2	1	2	2	2	2	2	rs201673456	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36455359G>A	ENST00000312513.5	+	3	448	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	96						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGTGATGCACGCATATCATCT	0.383													G|||	6	0.00119808	0	0	5008	,	,		18612	0		0.002	False		,,,				2504	0.0041					ENST00000312513.5																			0				breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13						c.(286-288)cGc>cAc		mitochondrial ribosomal protein L45							93	88	90					17																	36455359		2203	4300	6503	SO:0001583	missense	84311				intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	g.chr17:36455359G>A	BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"Mitochondrial ribosomal proteins / large subunits"	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.287G>A	17.37:g.36455359G>A	ENSP00000308901:p.Arg96His						p.R96H	NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN			3	448	+	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	96					A1L436|Q6ZMJ5	Missense_Mutation	SNP	ENST00000312513.5	37	c.287G>A	CCDS11326.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034064	0.35893	.	.	ENSG00000174100	ENST00000312513	T	0.32988	1.43	4.45	4.45	0.53987	.	0.053401	0.85682	D	0.000000	T	0.30135	0.0755	M	0.75264	2.295	0.51233	D	0.999916	P	0.44946	0.846	B	0.30251	0.113	T	0.44034	-0.9354	10	0.59425	D	0.04	-8.6564	15.0341	0.71731	0.0:0.0:1.0:0.0	.	96	Q9BRJ2	RM45_HUMAN	H	96	ENSP00000308901:R96H	ENSP00000308901:R96H	R	+	2	0	MRPL45	33708877	1.000000	0.71417	0.621000	0.29145	0.204000	0.24138	7.013000	0.76373	2.299000	0.77371	0.407000	0.27541	CGC		0.383	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3	NM_032351		43	49	0	0	0	1	0	43	49					A	36455359	G	A	36455359	3	1	435	1	0	0	0	0	1	0	0	0	9809	1087	38	1	227	1	MRPL45	17	36455359	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	361696	36455359	44739851	7350	28275											
GPR179	440435	broad.mit.edu	37	chr17	36483525	36483525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctttaggttggtcagggCgctgtctgtctaggtgagag	6	13	16	6	1	3	1	1	1	2	1	3	2	3	1	0	4	1	3	0	4	3	5	rs200274687		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36483525C>T	ENST00000342292.4	-	11	5947	c.5927G>A	c.(5926-5928)cGc>cAc	p.R1976H	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1976					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			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)				TTGGTCAGGGCGCTGTCTGTC	0.552													C|||	1	0.000199681	0	0	5008	,	,		18837	0		0.001	False		,,,				2504	0					ENST00000342292.4																			0				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						c.(5926-5928)cGc>cAc		G protein-coupled receptor 179		C	HIS/ARG	1,3977		0,1,1988	60	62	61		5927	0.7	0	17		61	2,8306		0,2,4152	yes	missense	GPR179	NM_001004334.2	29	0,3,6140	TT,TC,CC		0.0241,0.0251,0.0244	possibly-damaging	1976/2368	36483525	3,12283	1989	4154	6143	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36483525C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5927G>A	17.37:g.36483525C>T	ENSP00000345060:p.Arg1976His					GPR179_ENST00000584976.1_Intron	p.R1976H	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	5947	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1976						Missense_Mutation	SNP	ENST00000342292.4	37	c.5927G>A	CCDS42308.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.31	1.898301	0.33535	2.51E-4	2.41E-4	ENSG00000188888	ENST00000342292	T	0.50548	0.74	4.86	0.703	0.18116	.	1.330700	0.04946	N	0.459414	T	0.25680	0.0625	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19484	-1.0304	10	0.33141	T	0.24	0.1039	8.0889	0.30788	0.0:0.5898:0.0:0.4102	.	1976	Q6PRD1	GP179_HUMAN	H	1976	ENSP00000345060:R1976H	ENSP00000345060:R1976H	R	-	2	0	GPR179	33737051	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	0.197000	0.17197	0.022000	0.15160	-0.379000	0.06801	CGC		0.552	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			8	20	0	0	0	1	0	8	20					T	36483525	C	T	36483525	3	4	435	1	0	0	0	0	1	0	0	0	6674	768	27	1	1180	1	GPR179	17	36483525	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	28166	36483525	44711685	7351	28276											
GPR179	440435	broad.mit.edu	37	chr17	36484378	36484378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtcaagttttcctccacatCcaaagggcaaatgtcggcag	12	9	9	11	1	1	0	1	0	0	0	5	0	4	0	3	2	0	3	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36484378C>T	ENST00000342292.4	-	11	5094	c.5074G>A	c.(5074-5076)Gat>Aat	p.D1692N	GPR179_ENST00000584976.1_5'UTR	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1692					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			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)				TCCTCCACATCCAAAGGGCAA	0.562																																						ENST00000342292.4																			0				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						c.(5074-5076)Gat>Aat		G protein-coupled receptor 179							98	97	98					17																	36484378		1947	4143	6090	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484378C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5074G>A	17.37:g.36484378C>T	ENSP00000345060:p.Asp1692Asn					GPR179_ENST00000584976.1_5'UTR	p.D1692N	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	5094	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1692						Missense_Mutation	SNP	ENST00000342292.4	37	c.5074G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020832	0.93462	.	.	ENSG00000188888	ENST00000342292	T	0.55413	0.52	5.04	5.04	0.67666	.	0.393764	0.21623	N	0.071610	T	0.63861	0.2547	L	0.51422	1.61	0.41590	D	0.988793	D	0.71674	0.998	P	0.59546	0.859	T	0.66586	-0.5886	10	0.72032	D	0.01	-3.1755	15.4115	0.74929	0.0:1.0:0.0:0.0	.	1692	Q6PRD1	GP179_HUMAN	N	1692	ENSP00000345060:D1692N	ENSP00000345060:D1692N	D	-	1	0	GPR179	33737904	1.000000	0.71417	0.986000	0.45419	0.050000	0.14768	3.384000	0.52478	2.605000	0.88082	0.655000	0.94253	GAT		0.562	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			4	86	0	0	0	1	0	4	86					T	36484378	C	T	36484378	3	4	435	1	0	0	0	0	1	0	0	0	6674	855	30	3	2033	3	GPR179	17	36484378	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	853	36484378	44710832	7352	28277											
GPR179	440435	broad.mit.edu	37	chr17	36486906	36486906	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctggccatgagcaaggccTtttccctggagctggccaca	7	8	13	13	0	0	1	0	1	0	0	1	2	1	2	4	5	2	3	4	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36486906T>C	ENST00000342292.4	-	11	2566	c.2546A>G	c.(2545-2547)aAg>aGg	p.K849R	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	849					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			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)				GAGCAAGGCCTTTTCCCTGGA	0.657																																						ENST00000342292.4																			0				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						c.(2545-2547)aAg>aGg		G protein-coupled receptor 179							19	20	20					17																	36486906		1992	4155	6147	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36486906T>C		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.2546A>G	17.37:g.36486906T>C	ENSP00000345060:p.Lys849Arg						p.K849R	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	2566	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	849						Missense_Mutation	SNP	ENST00000342292.4	37	c.2546A>G	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.696918	0.68386	.	.	ENSG00000188888	ENST00000342292	T	0.61040	0.14	5.3	5.3	0.74995	.	0.145914	0.44483	D	0.000452	T	0.37919	0.1021	N	0.17082	0.46	0.24834	N	0.992504	P	0.38597	0.639	B	0.34824	0.19	T	0.38714	-0.9648	10	0.54805	T	0.06	-25.7037	8.9196	0.35604	0.0:0.0838:0.0:0.9162	.	849	Q6PRD1	GP179_HUMAN	R	849	ENSP00000345060:K849R	ENSP00000345060:K849R	K	-	2	0	GPR179	33740432	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.937000	0.28951	2.220000	0.72140	0.533000	0.62120	AAG		0.657	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			15	13	0	0	0	1	0	15	13					C	36486906	T	C	36486906	3	2	435	1	0	0	0	0	1	0	0	0	6674	1609	56	4	4561	4	GPR179	17	36486906	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	2528	36486906	44708304	7353	28278											
GPR179	440435	broad.mit.edu	37	chr17	36489878	36489878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgtggaagaagaagaGgaggagggtccagtccgggt	10	6	21	4	1	0	3	0	0	0	3	2	6	2	6	2	6	0	0	2	6	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36489878G>A	ENST00000342292.4	-	9	1848	c.1828C>T	c.(1828-1830)Ctc>Ttc	p.L610F		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	610					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L610F(1)		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)				AAGAAGAAGAGGAGGAGGGTC	0.612											OREG0024354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000342292.4																			1	Substitution - Missense(1)	p.L610F(1)	endometrium(1)	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						c.(1828-1830)Ctc>Ttc		G protein-coupled receptor 179							77	98	91					17																	36489878		2155	4246	6401	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36489878G>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1828C>T	17.37:g.36489878G>A	ENSP00000345060:p.Leu610Phe		OREG0024354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	863		p.L610F	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			9	1848	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	610						Missense_Mutation	SNP	ENST00000342292.4	37	c.1828C>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661613	0.67700	.	.	ENSG00000188888	ENST00000342292	D	0.88201	-2.35	5.02	5.02	0.67125	GPCR, family 3, C-terminal (2);	0.000000	0.64402	D	0.000014	D	0.93203	0.7835	M	0.72894	2.215	0.45390	D	0.99837	D	0.89917	1.0	D	0.81914	0.995	D	0.92825	0.6275	10	0.54805	T	0.06	-18.4219	13.1933	0.59723	0.0:0.0:0.8399:0.1601	.	610	Q6PRD1	GP179_HUMAN	F	610	ENSP00000345060:L610F	ENSP00000345060:L610F	L	-	1	0	GPR179	33743404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.793000	0.62474	2.769000	0.95229	0.563000	0.77884	CTC		0.612	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			12	26	0	0	0	1	0	12	26					A	36489878	G	A	36489878	3	1	435	1	0	0	0	0	1	0	0	0	6674	1000	35	3	5287	3	GPR179	17	36489878	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2972	36489878	44705332	7354	28279											
MLLT6	4302	broad.mit.edu	37	chr17	36872797	36872797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcttctctggctttgggcCcatcatgcgcttctccacca	4	13	9	15	1	4	0	1	0	3	0	6	0	4	0	3	3	1	2	3	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36872797C>T	ENST00000325718.7	+	10	1305	c.1214C>T	c.(1213-1215)cCc>cTc	p.P405L	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	405					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGCTTTGGGCCCATCATGCGC	0.677			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1213-1215)cCc>cTc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							36	42	40					17																	36872797		2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36872797C>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"Zinc fingers, PHD-type"	7138	protein-coding gene	gene with protein product	"Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6", "trithorax homolog"	600328	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1214C>T	17.37:g.36872797C>T	ENSP00000316426:p.Pro405Leu					CTB-58E17.9_ENST00000579499.1_RNA	p.P405L	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			10	1305	+	Breast(7;4.43e-21)		405					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.1214C>T	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633034	0.87660	.	.	ENSG00000108292	ENST00000325718	T	0.13901	2.55	5.33	5.33	0.75918	.	0.557187	0.18779	N	0.131393	T	0.13286	0.0322	L	0.36672	1.1	0.80722	D	1	P	0.34522	0.455	B	0.30105	0.111	T	0.04454	-1.0950	10	0.59425	D	0.04	.	16.5152	0.84297	0.0:1.0:0.0:0.0	.	405	P55198	AF17_HUMAN	L	405	ENSP00000316426:P405L	ENSP00000316426:P405L	P	+	2	0	MLLT6	34126323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.250000	0.65432	2.503000	0.84419	0.561000	0.74099	CCC		0.677	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		24	46	0	0	0	1	0	24	46					T	36872797	C	T	36872797	3	4	435	1	0	0	0	0	1	0	0	0	9630	623	22	3	1252	3	MLLT6	17	36872797	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	382919	36872797	44322413	7355	28280											
MLLT6	4302	broad.mit.edu	37	chr17	36879020	36879020	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccccgcagctgacccCggtaatgcccctcccttccc	4	7	8	22	2	0	1	0	1	0	0	3	1	3	1	9	2	2	3	9	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36879020C>T	ENST00000325718.7	+	18	2973	c.2882C>T	c.(2881-2883)cCg>cTg	p.P961L	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	961	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CAGCTGACCCCGGTAATGCCC	0.642			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.e18+1		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							46	40	42					17																	36879020		2203	4300	6503	SO:0001630	splice_region_variant	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36879020C>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"Zinc fingers, PHD-type"	7138	protein-coding gene	gene with protein product	"Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6", "trithorax homolog"	600328	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.2883+1C>T	17.37:g.36879020C>T							p.P961_splice	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			18	2973	+	Breast(7;4.43e-21)		961			Gln-rich.		Q59F28|Q96IU3|Q9H5F6|Q9UF49	Splice_Site	SNP	ENST00000325718.7	37	c.2883_splice	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484292	0.63962	.	.	ENSG00000108292	ENST00000325718	T	0.60299	0.2	5.2	5.2	0.72013	.	0.176809	0.50627	D	0.000110	T	0.56978	0.2022	M	0.65498	2.005	0.52501	D	0.999955	D	0.57571	0.98	B	0.42462	0.388	T	0.65183	-0.6230	10	0.87932	D	0	.	13.2163	0.59863	0.0:0.8401:0.1599:0.0	.	961	P55198	AF17_HUMAN	L	961	ENSP00000316426:P961L	ENSP00000316426:P961L	P	+	2	0	MLLT6	34132546	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.606000	0.46291	2.698000	0.92095	0.561000	0.74099	CCG		0.642	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937	Missense_Mutation	4	11	0	0	0	1	0	4	11					T	36879020	C	T	36879020	5	4	435	1	0	0	0	0	0	0	1	0	9630	666	23	2	2952	2	MLLT6	17	36879020	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6223	36879020	44316190	7356	28281											
PSMB3	5691	broad.mit.edu	37	chr17	36918698	36918698	+	Missense_Mutation	SNP	C	C	T																															gtttgaaaccatctcccaagCcatgctgaatgctgtggacc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36918698C>T	ENST00000225426.4	+	5	600	c.509C>T	c.(508-510)gCc>gTc	p.A170V		NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	170					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)	4						ATCTCCCAAGCCATGCTGAAT	0.527																																						ENST00000225426.4																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(508-510)gCc>gTc		proteasome (prosome, macropain) subunit, beta type, 3							166	147	154					17																	36918698		2203	4300	6503	SO:0001583	missense	5691				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	g.chr17:36918698C>T	BC013008	CCDS11328.1	17q12	2014-05-06			ENSG00000108294	ENSG00000277791		"Proteasome (prosome, macropain) subunits"	9540	protein-coding gene	gene with protein product		602176				7918633	Standard	NM_002795		Approved	HC10-II, MGC4147	uc002hqr.3	P49720	OTTHUMG00000188503	ENST00000225426.4:c.509C>T	17.37:g.36918698C>T	ENSP00000225426:p.Ala170Val						p.A170V	NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN			5	600	+			170					P31147|Q0P6J7|Q96E27	Missense_Mutation	SNP	ENST00000225426.4	37	c.509C>T	CCDS11328.1	.	.	.	.	.	.	.	.	.	.	C	34	5.362743	0.95877	.	.	ENSG00000108294	ENST00000225426	T	0.56941	0.43	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.85945	2.785	0.80722	D	1	D	0.63046	0.992	P	0.56788	0.806	T	0.77770	-0.2463	10	0.87932	D	0	.	17.8402	0.88713	0.0:1.0:0.0:0.0	.	170	P49720	PSB3_HUMAN	V	170	ENSP00000225426:A170V	ENSP00000225426:A170V	A	+	2	0	PSMB3	34172224	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.752000	0.85141	2.576000	0.86940	0.563000	0.77884	GCC		0.527	PSMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256810.2	NM_002795		23	32	0	0	0	1	0	23	32					T	36918698	C	T	36918698	3	4	435	1	0	0	0	0	1	0	0	0	12678	739	26	3	527	3	PSMB3	17	36918698	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	39678	36918698	44276512	7357	28282	131	2									
PSMB3	5691	broad.mit.edu	37	chr17	36918703	36918703	+	Missense_Mutation	SNP	C	C	A																															aaaccatctcccaagccatgCtgaatgctgtggaccgggat																								rs1804235		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36918703C>A	ENST00000225426.4	+	5	605	c.514C>A	c.(514-516)Ctg>Atg	p.L172M		NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	172					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)	4						CCAAGCCATGCTGAATGCTGT	0.542																																						ENST00000225426.4																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(514-516)Ctg>Atg		proteasome (prosome, macropain) subunit, beta type, 3							165	146	152					17																	36918703		2203	4300	6503	SO:0001583	missense	5691				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	g.chr17:36918703C>A	BC013008	CCDS11328.1	17q12	2014-05-06			ENSG00000108294	ENSG00000277791		"Proteasome (prosome, macropain) subunits"	9540	protein-coding gene	gene with protein product		602176				7918633	Standard	NM_002795		Approved	HC10-II, MGC4147	uc002hqr.3	P49720	OTTHUMG00000188503	ENST00000225426.4:c.514C>A	17.37:g.36918703C>A	ENSP00000225426:p.Leu172Met						p.L172M	NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN			5	605	+			172					P31147|Q0P6J7|Q96E27	Missense_Mutation	SNP	ENST00000225426.4	37	c.514C>A	CCDS11328.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159564	0.94686	.	.	ENSG00000108294	ENST00000225426	T	0.23754	1.89	5.45	4.48	0.54585	.	0.000000	0.64402	D	0.000001	T	0.37945	0.1022	M	0.64404	1.975	0.58432	D	0.999998	P	0.39883	0.693	P	0.51193	0.662	T	0.11372	-1.0590	10	0.44086	T	0.13	.	10.1122	0.42570	0.0:0.8371:0.0:0.1629	rs1804235	172	P49720	PSB3_HUMAN	M	172	ENSP00000225426:L172M	ENSP00000225426:L172M	L	+	1	2	PSMB3	34172229	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.000000	0.57039	1.321000	0.45227	0.563000	0.77884	CTG		0.542	PSMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256810.2	NM_002795		4	52	1	0	0.00024832	1	0.000253518	4	52					A	36918703	C	A	36918703	3	1	435	1	0	0	0	0	1	0	0	0	12678	796	28	5	532	5	PSMB3	17	36918703	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5	36918703	44276507	7358	28283	131	2									
PIP4K2B	8396	broad.mit.edu	37	chr17	36927471	36927471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgctctgcccggtccaCgtcgtggatgcccaccagca	5	8	10	18	3	1	0	0	0	1	0	4	1	3	1	5	2	4	2	5	2	0	0	rs142813296		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36927471C>T	ENST00000269554.3	-	8	1342	c.862G>A	c.(862-864)Gtg>Atg	p.V288M		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	288	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						GCCCGGTCCACGTCGTGGATG	0.572																																						ENST00000269554.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						c.(862-864)Gtg>Atg		phosphatidylinositol-5-phosphate 4-kinase, type II, beta		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	131	100	110		862	5.3	1	17	dbSNP_134	110	0,8600		0,0,4300	yes	missense	PIP4K2B	NM_003559.4	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	288/417	36927471	1,13005	2203	4300	6503	SO:0001583	missense	8396				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	g.chr17:36927471C>T	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"phosphatidylinositol-4-phosphate 5-kinase, type II, beta"	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.862G>A	17.37:g.36927471C>T	ENSP00000269554:p.Val288Met						p.V288M	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN			8	1342	-			288			PIPK.		Q5U0E8|Q8TBP2	Missense_Mutation	SNP	ENST00000269554.3	37	c.862G>A	CCDS11329.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998621	0.74818	2.27E-4	0.0	ENSG00000141720	ENST00000269554	T	0.31769	1.48	5.29	5.29	0.74685	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.065191	0.64402	D	0.000007	T	0.36908	0.0984	L	0.58583	1.82	0.80722	D	1	P	0.38020	0.615	B	0.40199	0.322	T	0.12915	-1.0529	10	0.46703	T	0.11	-19.807	17.7431	0.88412	0.0:1.0:0.0:0.0	.	288	P78356	PI42B_HUMAN	M	288	ENSP00000269554:V288M	ENSP00000269554:V288M	V	-	1	0	PIP4K2B	34180997	1.000000	0.71417	0.971000	0.41717	0.982000	0.71751	7.320000	0.79064	2.776000	0.95493	0.644000	0.83932	GTG		0.572	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		4	21	0	0	0	1	0	4	21					T	36927471	C	T	36927471	3	4	435	1	0	0	0	0	1	0	0	0	11937	536	19	1	400	1	PIP4K2B	17	36927471	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8768	36927471	44267739	7359	28284											
PIP4K2B	8396	broad.mit.edu	37	chr17	36936738	36936738	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaagatgttgtgcatctcCgccacgtcctcgctggacac	7	12	9	13	3	1	1	0	0	1	1	4	2	2	2	3	1	1	3	3	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36936738C>T	ENST00000269554.3	-	4	954	c.474G>A	c.(472-474)gcG>gcA	p.A158A	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	158	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TGTGCATCTCCGCCACGTCCT	0.582																																						ENST00000269554.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						c.(472-474)gcG>gcA		phosphatidylinositol-5-phosphate 4-kinase, type II, beta							96	85	89					17																	36936738		2203	4300	6503	SO:0001819	synonymous_variant	8396				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	g.chr17:36936738C>T	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"phosphatidylinositol-4-phosphate 5-kinase, type II, beta"	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.474G>A	17.37:g.36936738C>T						PIP4K2B_ENST00000311500.6_5'UTR	p.A158A	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN			4	954	-			158			PIPK.		Q5U0E8|Q8TBP2	Silent	SNP	ENST00000269554.3	37	c.474G>A	CCDS11329.1																																																																																				0.582	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		32	52	0	0	0	1	0	32	52					T	36936738	C	T	36936738	2	4	435	1	0	0	0	0	0	0	0	1	11937	639	23	2		2	PIP4K2B	17	36936738	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9267	36936738	44258472	7360	28285											
C17orf98	388381	broad.mit.edu	37	chr17	36997589	36997589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgctcacagccaccccGtccaagataaagcctttctc	9	8	8	16	2	2	1	1	0	1	1	4	1	3	1	5	1	3	1	5	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36997589G>A	ENST00000398575.4	-	1	119	c.54C>T	c.(52-54)gaC>gaT	p.D18D		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	18										endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						CAGCCACCCCGTCCAAGATAA	0.647																																						ENST00000398575.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						c.(52-54)gaC>gaT		chromosome 17 open reading frame 98							40	43	42					17																	36997589		2037	4200	6237	SO:0001819	synonymous_variant	388381							g.chr17:36997589G>A	AC006449, DY654789	CCDS42310.1	17q12	2014-05-06			ENSG00000214556	ENSG00000275489			34492	protein-coding gene	gene with protein product						16625196	Standard	NM_001080465		Approved	LOC388381	uc002hqv.2	A8MV24	OTTHUMG00000188506	ENST00000398575.4:c.54C>T	17.37:g.36997589G>A							p.D18D	NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN			1	119	-			18						Silent	SNP	ENST00000398575.4	37	c.54C>T	CCDS42310.1																																																																																				0.647	C17orf98-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255469.2	NM_001080465		13	13	0	0	0	1	0	13	13					A	36997589	G	A	36997589	2	1	435	1	0	0	0	0	0	0	0	1	1893	1136	40	1		1	C17orf98	17	36997589	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	60851	36997589	44197621	7361	28286											
LASP1	3927	broad.mit.edu	37	chr17	37074902	37074902	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagcgccgccgacgaggaCgaggtctccttccaggacgg	8	5	14	14	6	1	0	0	0	1	0	3	5	2	2	4	4	2	0	4	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:37074902C>T	ENST00000318008.6	+	7	988	c.657C>T	c.(655-657)gaC>gaT	p.D219D	RP1-56K13.3_ENST00000580121.1_RNA|LASP1_ENST00000433206.2_Silent_p.D163D|LASP1_ENST00000435347.3_Silent_p.D219D	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	219	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CCGACGAGGACGAGGTCTCCT	0.662			T	MLL	AML																																	ENST00000318008.6				Dom	yes		17	17q11-q21.3	3927	T	LIM and SH3 protein 1			L	MLL		AML		0				breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						c.(655-657)gaC>gaT		LIM and SH3 protein 1							115	101	106					17																	37074902		2203	4300	6503	SO:0001819	synonymous_variant	3927					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding	g.chr17:37074902C>T		CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.657C>T	17.37:g.37074902C>T						LASP1_ENST00000435347.3_Silent_p.D219D|LASP1_ENST00000433206.2_Silent_p.D163D	p.D219D	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN			7	988	+			219			SH3.		B4DGQ0|Q96ED2|Q96IG0	Silent	SNP	ENST00000318008.6	37	c.657C>T	CCDS11331.1																																																																																				0.662	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256890.3	NM_006148		16	70	0	0	0	1	0	16	70					T	37074902	C	T	37074902	2	4	435	1	0	0	0	0	0	0	0	1	8637	535	19	1		1	LASP1	17	37074902	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	77313	37074902	44120308	7362	28287											
FBXL20	84961	broad.mit.edu	37	chr17	37431355	37431356	+	Splice_Site	INS	-	-	A																															accttcatctgtgatttgctINSaaaaaacaagagcaaaaaaa																								rs34511351		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:37431355_37431356insA	ENST00000264658.6	-	10	957		c.e10-2		FBXL20_ENST00000583610.1_Splice_Site|FBXL20_ENST00000394294.3_Splice_Site|FBXL20_ENST00000577399.1_Splice_Site	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20						behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TGTGATTTGCTAAAAAACAAGA	0.356																																						ENST00000264658.6																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.e10-2		F-box and leucine-rich repeat protein 20																																				SO:0001630	splice_region_variant	84961					cytoplasm		g.chr17:37431355_37431356insA	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"F-boxes / Leucine-rich repeats"	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.697-2->T	17.37:g.37431361_37431361dupA						FBXL20_ENST00000577399.1_Splice_Site|FBXL20_ENST00000394294.3_Splice_Site|FBXL20_ENST00000583610.1_Splice_Site		NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		10	957	-								A8K729|Q38J52	Splice_Site	INS	ENST00000264658.6	37		CCDS32640.1																																																																																				0.356	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875	Intron	16	25						16	25	---	---	---	---	A	37431356	-	A	37431355	8	5	435	1	0	1	1	0	0	0	1	0	5717	1536	53	0	639	0	FBXL20	17	37431355	Splice_Site	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	356453	37431355	43763855	7363	28288											
PPP1R1B	84152	broad.mit.edu	37	chr17	37791876	37791876	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgggcaaaagacaacCtgtggccagggtctggaagg	11	5	15	10	0	1	1	0	0	1	1	1	2	1	2	3	5	2	2	3	5	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:37791876C>A	ENST00000254079.4	+	6	931	c.462C>A	c.(460-462)acC>acA	p.T154T	PPP1R1B_ENST00000394265.1_Silent_p.T118T|PPP1R1B_ENST00000579000.1_Silent_p.T121T|STARD3_ENST00000336308.5_5'Flank|PPP1R1B_ENST00000580825.1_Silent_p.T154T|STARD3_ENST00000544210.2_5'Flank|STARD3_ENST00000580611.1_5'Flank|STARD3_ENST00000394250.4_5'Flank|PPP1R1B_ENST00000394267.2_Silent_p.T118T	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	154					intracellular signal transduction (GO:0035556)|negative regulation of catalytic activity (GO:0043086)|negative regulation of female receptivity (GO:0007621)|negative regulation of protein kinase activity (GO:0006469)|regulation of catalytic activity (GO:0050790)|response to amphetamine (GO:0001975)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	protein kinase inhibitor activity (GO:0004860)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 1 regulator activity (GO:0008599)			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAAAGACAACCTGTGGCCAGG	0.582																																						ENST00000254079.4																			0				kidney(1)|large_intestine(1)|liver(1)|lung(2)	5						c.(460-462)acC>acA		protein phosphatase 1, regulatory (inhibitor) subunit 1B							82	94	90					17																	37791876		2203	4300	6503	SO:0001819	synonymous_variant	84152				signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity	g.chr17:37791876C>A	AI124650	CCDS11339.1, CCDS11340.1	17q12	2012-04-17	2008-07-31		ENSG00000131771	ENSG00000131771	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9287	protein-coding gene	gene with protein product	"dopamine and cAMP regulated phosphoprotein"	604399				8120638	Standard	NM_032192		Approved	DARPP-32, FLJ20940	uc002hrz.3	Q9UD71	OTTHUMG00000133210	ENST00000254079.4:c.462C>A	17.37:g.37791876C>A						PPP1R1B_ENST00000394265.1_Silent_p.T118T|PPP1R1B_ENST00000580825.1_Silent_p.T154T|PPP1R1B_ENST00000579000.1_Silent_p.T121T|PPP1R1B_ENST00000394267.2_Silent_p.T118T	p.T154T	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	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)		6	931	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		154					Q547V9|Q547W0|Q9H7G1	Silent	SNP	ENST00000254079.4	37	c.462C>A	CCDS11339.1																																																																																				0.582	PPP1R1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256925.2	NM_032192		43	45	1	0	7.05121e-23	1	7.84975e-23	43	45					A	37791876	C	A	37791876	2	1	435	1	0	0	0	0	0	0	0	1	12368	668	24	5		5	PPP1R1B	17	37791876	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	360521	37791876	43403334	7364	28289											
ERBB2	2064	broad.mit.edu	37	chr17	37866372	37866372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgccggtggctgtgcccGctgcaaggggccactgccca	4	7	15	15	2	0	0	0	0	0	0	0	0	0	0	4	4	4	3	4	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:37866372G>A	ENST00000269571.5	+	6	836	c.677G>A	c.(676-678)cGc>cAc	p.R226H	ERBB2_ENST00000541774.1_Missense_Mutation_p.R211H|ERBB2_ENST00000578199.1_Missense_Mutation_p.R196H|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Missense_Mutation_p.R196H|ERBB2_ENST00000540147.1_Missense_Mutation_p.R196H|ERBB2_ENST00000406381.2_Missense_Mutation_p.R196H|ERBB2_ENST00000584450.1_Missense_Mutation_p.R226H|ERBB2_ENST00000540042.1_Missense_Mutation_p.R196H			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	226					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GGCTGTGCCCGCTGCAAGGGG	0.652		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"A, Mis, O"	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"			E			"breast, ovarian, other tumour types, NSCLC, gastric"		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(586-588)cGc>cAc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						54	56	55					17																	37866372		2203	4298	6501	SO:0001583	missense	2064				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	g.chr17:37866372G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.677G>A	17.37:g.37866372G>A	ENSP00000269571:p.Arg226His	TCGA GBM(5;<1E-08)				ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000269571.5_Missense_Mutation_p.R226H|ERBB2_ENST00000584601.1_Missense_Mutation_p.R196H|ERBB2_ENST00000541774.1_Missense_Mutation_p.R211H|ERBB2_ENST00000584450.1_Missense_Mutation_p.R226H|ERBB2_ENST00000540042.1_Missense_Mutation_p.R196H|ERBB2_ENST00000540147.1_Missense_Mutation_p.R196H|ERBB2_ENST00000578199.1_Missense_Mutation_p.R196H	p.R196H	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	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)	8	1097	+	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)	226					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.587G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686090	0.68157	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.62	5.62	0.85841	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.80088	0.4559	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.993;0.999;0.988	T	0.78892	-0.2025	9	0.40728	T	0.16	.	18.4263	0.90610	0.0:0.0:1.0:0.0	.	196;211;226;226	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	H	196;211;226;196;196	ENSP00000385185:R196H;ENSP00000446466:R211H;ENSP00000269571:R226H;ENSP00000443562:R196H;ENSP00000446382:R196H	ENSP00000269571:R226H	R	+	2	0	ERBB2	35119898	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.461000	0.97646	2.648000	0.89879	0.467000	0.42956	CGC		0.652	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			39	50	0	0	0	1	0	39	50					A	37866372	G	A	37866372	3	1	435	1	0	0	0	0	1	0	0	0	5206	1087	38	1	699	1	ERBB2	17	37866372	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	74496	37866372	43328838	7365	28290											
ERBB2	2064	broad.mit.edu	37	chr17	37881050	37881050	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatctgcctgacatccacGgtgcagctggtgacacagct	8	8	12	13	1	1	2	0	2	1	0	2	2	2	2	2	3	4	4	2	3	0	0	rs186232310	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:37881050G>A	ENST00000269571.5	+	20	2538	c.2379G>A	c.(2377-2379)acG>acA	p.T793T	ERBB2_ENST00000541774.1_Silent_p.T778T|ERBB2_ENST00000445658.2_Silent_p.T517T|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Silent_p.T763T|ERBB2_ENST00000540147.1_Silent_p.T763T|ERBB2_ENST00000406381.2_Silent_p.T763T|ERBB2_ENST00000584450.1_Silent_p.T793T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	793	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.T793T(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TGACATCCACGGTGCAGCTGG	0.597		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			G|||	10	0.00199681	0	0	5008	,	,		18425	0.0099		0	False		,,,				2504	0					ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"A, Mis, O"	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"			E			"breast, ovarian, other tumour types, NSCLC, gastric"		1	Substitution - coding silent(1)	p.T793T(1)	liver(1)	NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(2287-2289)acG>acA		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						85	80	81					17																	37881050		2203	4300	6503	SO:0001819	synonymous_variant	2064				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	g.chr17:37881050G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2379G>A	17.37:g.37881050G>A		TCGA GBM(5;<1E-08)				ERBB2_ENST00000445658.2_Silent_p.T517T|ERBB2_ENST00000269571.5_Silent_p.T793T|ERBB2_ENST00000584601.1_Silent_p.T763T|ERBB2_ENST00000541774.1_Silent_p.T778T|ERBB2_ENST00000584450.1_Silent_p.T793T|ERBB2_ENST00000540147.1_Silent_p.T763T	p.T763T	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	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)	22	2799	+	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)	793			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.2289G>A	CCDS32642.1																																																																																				0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			21	31	0	0	0	1	0	21	31					A	37881050	G	A	37881050	2	1	435	1	0	0	0	0	0	0	0	1	5206	1103	39	2		2	ERBB2	17	37881050	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14678	37881050	43314160	7366	28291											
ERBB2	2064	broad.mit.edu	37	chr17	37884170	37884170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctcctcctgccttcaGcccagccttcgacaacctct	6	9	4	22	1	2	0	1	0	1	0	5	1	4	0	8	0	4	0	8	0	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:37884170G>A	ENST00000269571.5	+	27	3800	c.3641G>A	c.(3640-3642)aGc>aAc	p.S1214N	ERBB2_ENST00000541774.1_Missense_Mutation_p.S1199N|ERBB2_ENST00000445658.2_Missense_Mutation_p.S938N|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.S1184N|ERBB2_ENST00000540147.1_Missense_Mutation_p.S1184N|ERBB2_ENST00000406381.2_Missense_Mutation_p.S1184N|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000584450.1_3'UTR			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1214					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CCTGCCTTCAGCCCAGCCTTC	0.622		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"A, Mis, O"	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"			E			"breast, ovarian, other tumour types, NSCLC, gastric"		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(3550-3552)aGc>aAc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						48	54	52					17																	37884170		2203	4300	6503	SO:0001583	missense	2064				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	g.chr17:37884170G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3641G>A	17.37:g.37884170G>A	ENSP00000269571:p.Ser1214Asn	TCGA GBM(5;<1E-08)				ERBB2_ENST00000445658.2_Missense_Mutation_p.S938N|ERBB2_ENST00000269571.5_Missense_Mutation_p.S1214N|ERBB2_ENST00000584601.1_Missense_Mutation_p.S1184N|ERBB2_ENST00000541774.1_Missense_Mutation_p.S1199N|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000540147.1_Missense_Mutation_p.S1184N	p.S1184N	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	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)	29	4061	+	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)	1214					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.3551G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022607	0.54683	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.76709	-1.04;-1.04;-1.03;-1.04;-1.04	4.44	4.44	0.53790	.	.	.	.	.	T	0.71117	0.3302	L	0.36672	1.1	0.80722	D	1	B;P;B	0.47253	0.006;0.892;0.203	B;P;B	0.44359	0.005;0.447;0.078	T	0.72704	-0.4213	9	0.45353	T	0.12	.	12.4608	0.55731	0.0:0.3015:0.6985:0.0	.	938;1199;1214	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	N	1184;1199;938;1214;1184	ENSP00000385185:S1184N;ENSP00000446466:S1199N;ENSP00000404047:S938N;ENSP00000269571:S1214N;ENSP00000443562:S1184N	ENSP00000269571:S1214N	S	+	2	0	ERBB2	35137696	0.984000	0.35163	1.000000	0.80357	0.992000	0.81027	2.027000	0.41078	2.287000	0.76781	0.563000	0.77884	AGC		0.622	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			19	22	0	0	0	1	0	19	22					A	37884170	G	A	37884170	3	1	435	1	0	0	0	0	1	0	0	0	5206	971	34	3	3747	3	ERBB2	17	37884170	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3120	37884170	43311040	7367	28292											
ORMDL3	94103	broad.mit.edu	37	chr17	38080399	38080399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaggagagccagatgccacGgctgttcatcacccgcgtgt	8	8	13	12	3	2	2	2	0	0	2	2	3	2	2	3	2	2	3	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38080399G>A	ENST00000394169.1	-	4	1552	c.58C>T	c.(58-60)Cgt>Tgt	p.R20C	ORMDL3_ENST00000579695.1_Missense_Mutation_p.R20C|ORMDL3_ENST00000582052.1_5'Flank|ORMDL3_ENST00000584220.1_Missense_Mutation_p.R20C|ORMDL3_ENST00000304046.2_Missense_Mutation_p.R20C			Q8N138	ORML3_HUMAN	ORMDL sphingolipid biosynthesis regulator 3	20					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|SPOTS complex (GO:0035339)				endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			CAGATGCCACGGCTGTTCATC	0.597																																						ENST00000394169.1																			0				endometrium(3)|kidney(1)|lung(1)	5						c.(58-60)Cgt>Tgt		ORM1-like 3 (S. cerevisiae)							218	166	184					17																	38080399		2203	4300	6503	SO:0001583	missense	94103				ceramide metabolic process	integral to membrane|SPOTS complex	protein binding	g.chr17:38080399G>A		CCDS11355.1	17q12	2014-06-16	2014-06-16		ENSG00000172057	ENSG00000172057			16038	protein-coding gene	gene with protein product		610075	"ORM1 (S. cerevisiae)-like 3", "ORM1-like 3 (S. cerevisiae)"			23066021	Standard	NM_139280		Approved		uc002htj.2	Q8N138	OTTHUMG00000133249	ENST00000394169.1:c.58C>T	17.37:g.38080399G>A	ENSP00000377724:p.Arg20Cys					ORMDL3_ENST00000584220.1_Missense_Mutation_p.R20C|ORMDL3_ENST00000579695.1_Missense_Mutation_p.R20C|ORMDL3_ENST00000304046.2_Missense_Mutation_p.R20C	p.R20C			Q8N138	ORML3_HUMAN	Lung(15;0.0234)		4	1552	-	Colorectal(19;0.000442)		20					B3KS83|Q6UY83	Missense_Mutation	SNP	ENST00000394169.1	37	c.58C>T	CCDS11355.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036996	0.54896	.	.	ENSG00000172057	ENST00000304046;ENST00000394169	.	.	.	5.97	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.80025	0.4548	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81931	-0.0707	9	0.87932	D	0	-12.2783	11.2386	0.48955	0.0658:0.0:0.8062:0.128	.	20	Q8N138	ORML3_HUMAN	C	20	.	ENSP00000304858:R20C	R	-	1	0	ORMDL3	35333925	1.000000	0.71417	0.937000	0.37676	0.326000	0.28443	3.783000	0.55409	0.830000	0.34757	-0.140000	0.14226	CGT		0.597	ORMDL3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257003.1	NM_139280		17	20	0	0	0	1	0	17	20					A	38080399	G	A	38080399	3	1	435	1	0	0	0	0	1	0	0	0	11271	1116	39	2	415	2	ORMDL3	17	38080399	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	196229	38080399	43114811	7368	28293											
GSDMA	284110	broad.mit.edu	37	chr17	38133270	38133270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcctctgtgctctttatGcaggcctctctctccttcag	3	15	7	16	1	5	0	1	0	4	0	8	0	5	0	3	1	2	2	3	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38133270G>A	ENST00000301659.4	+	12	1415	c.1297G>A	c.(1297-1299)Gca>Aca	p.A433T		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	433					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TGCTCTTTATGCAGGCCTCTC	0.567																																						ENST00000301659.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						c.(1297-1299)Gca>Aca		gasdermin A							104	106	105					17																	38133270		1960	4155	6115	SO:0001583	missense	284110				apoptosis|induction of apoptosis	perinuclear region of cytoplasm		g.chr17:38133270G>A	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"gasdermin", "gasdermin 1"	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.1297G>A	17.37:g.38133270G>A	ENSP00000301659:p.Ala433Thr						p.A433T	NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN			12	1415	+			433					Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	ENST00000301659.4	37	c.1297G>A	CCDS45669.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662607	0.67700	.	.	ENSG00000167914	ENST00000301659	T	0.35048	1.33	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000003	T	0.45538	0.1347	L	0.53561	1.675	0.42300	D	0.992172	P	0.48503	0.911	P	0.49387	0.609	T	0.39761	-0.9598	10	0.62326	D	0.03	-10.9192	15.6776	0.77341	0.0:0.0:1.0:0.0	.	433	Q96QA5	GSDMA_HUMAN	T	433	ENSP00000301659:A433T	ENSP00000301659:A433T	A	+	1	0	GSDMA	35386796	0.864000	0.29904	0.971000	0.41717	0.719000	0.41307	3.493000	0.53266	2.771000	0.95319	0.561000	0.74099	GCA		0.567	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		21	31	0	0	0	1	0	21	31					A	38133270	G	A	38133270	3	1	435	1	0	0	0	0	1	0	0	0	6816	1319	46	3	1339	3	GSDMA	17	38133270	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	52871	38133270	43061940	7369	28294											
THRA	7067	broad.mit.edu	37	chr17	38241019	38241019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattgccacagaggcccatcGcagcaccaatgcccagggca	11	4	10	16	1	0	1	0	0	0	1	1	1	0	1	4	2	3	3	4	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38241019G>A	ENST00000264637.4	+	6	1107	c.527G>A	c.(526-528)cGc>cAc	p.R176H	THRA_ENST00000546243.1_Missense_Mutation_p.R176H|THRA_ENST00000584985.1_Missense_Mutation_p.R176H|THRA_ENST00000394121.4_Missense_Mutation_p.R176H|THRA_ENST00000450525.2_Missense_Mutation_p.R176H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	176					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GAGGCCCATCGCAGCACCAAT	0.602																																						ENST00000450525.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(526-528)cGc>cAc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						73	74	74					17																	38241019		2203	4300	6503	SO:0001583	missense	7067				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	g.chr17:38241019G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.527G>A	17.37:g.38241019G>A	ENSP00000264637:p.Arg176His					THRA_ENST00000584985.1_Missense_Mutation_p.R176H|THRA_ENST00000546243.1_Missense_Mutation_p.R176H|THRA_ENST00000394121.4_Missense_Mutation_p.R176H|THRA_ENST00000264637.4_Missense_Mutation_p.R176H	p.R176H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			6	1018	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	176					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.527G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836029	0.50951	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.93604	-3.1;-3.1;-3.25;-3.25	4.39	4.39	0.52855	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.90923	0.7147	M	0.75447	2.3	0.45946	D	0.998774	B;P;P	0.48294	0.267;0.493;0.908	B;B;B	0.30495	0.031;0.024;0.116	D	0.92926	0.6359	10	0.72032	D	0.01	.	16.7502	0.85483	0.0:0.0:1.0:0.0	.	176;176;176	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	176	ENSP00000377679:R176H;ENSP00000264637:R176H;ENSP00000395641:R176H;ENSP00000443972:R176H	ENSP00000264637:R176H	R	+	2	0	THRA	35494545	0.001000	0.12720	1.000000	0.80357	0.996000	0.88848	0.976000	0.29462	2.262000	0.75019	0.436000	0.28706	CGC		0.602	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			19	41	0	0	0	1	0	19	41					A	38241019	G	A	38241019	3	1	435	1	0	0	0	0	1	0	0	0	15870	1087	38	1	545	1	THRA	17	38241019	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	107749	38241019	42954191	7370	28295											
THRA	7067	broad.mit.edu	37	chr17	38244645	38244645	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctcaagaatggcggcCtgggcgtagtctccgacgcc	8	6	14	13	4	2	1	1	0	1	1	3	2	2	1	3	3	2	3	3	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38244645C>A	ENST00000264637.4	+	8	1454	c.874C>A	c.(874-876)Ctg>Atg	p.L292M	THRA_ENST00000546243.1_Missense_Mutation_p.L292M|THRA_ENST00000584985.1_Missense_Mutation_p.L292M|THRA_ENST00000394121.4_Missense_Mutation_p.L292M|THRA_ENST00000450525.2_Missense_Mutation_p.L292M	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	292	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GAATGGCGGCCTGGGCGTAGT	0.607																																						ENST00000450525.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(874-876)Ctg>Atg		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						100	94	96					17																	38244645		2203	4300	6503	SO:0001583	missense	7067				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	g.chr17:38244645C>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.874C>A	17.37:g.38244645C>A	ENSP00000264637:p.Leu292Met					THRA_ENST00000584985.1_Missense_Mutation_p.L292M|THRA_ENST00000546243.1_Missense_Mutation_p.L292M|THRA_ENST00000394121.4_Missense_Mutation_p.L292M|THRA_ENST00000264637.4_Missense_Mutation_p.L292M	p.L292M	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			8	1365	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	292			Ligand-binding.		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.874C>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	c	17.81	3.481459	0.63849	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	4.97	2.95	0.34219	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.95348	0.8490	L	0.28192	0.835	0.42787	D	0.993887	D;D;D	0.63880	0.985;0.993;0.985	D;D;P	0.72338	0.961;0.977;0.874	D	0.93236	0.6622	10	0.45353	T	0.12	.	8.2617	0.31788	0.0:0.7309:0.0:0.2691	.	292;292;292	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	M	292	ENSP00000377679:L292M;ENSP00000264637:L292M;ENSP00000395641:L292M;ENSP00000443972:L292M	ENSP00000264637:L292M	L	+	1	2	THRA	35498171	0.592000	0.26832	1.000000	0.80357	0.974000	0.67602	1.273000	0.33121	0.485000	0.27652	0.486000	0.48141	CTG		0.607	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			54	53	1	0	1.11015e-26	1	1.241e-26	54	53					A	38244645	C	A	38244645	3	1	435	1	0	0	0	0	1	0	0	0	15870	680	24	5	900	5	THRA	17	38244645	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3626	38244645	42950565	7371	28296											
THRA	7067	broad.mit.edu	37	chr17	38244663	38244663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggcgtagtctccgacGccatctttgaactgggcaag	7	9	13	12	3	2	1	0	1	2	0	3	2	2	1	3	2	1	2	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38244663G>A	ENST00000264637.4	+	8	1472	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	THRA_ENST00000546243.1_Missense_Mutation_p.A298T|THRA_ENST00000584985.1_Missense_Mutation_p.A298T|THRA_ENST00000394121.4_Missense_Mutation_p.A298T|THRA_ENST00000450525.2_Missense_Mutation_p.A298T	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	298	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGTCTCCGACGCCATCTTTGA	0.587																																						ENST00000450525.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(892-894)Gcc>Acc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						113	105	108					17																	38244663		2203	4300	6503	SO:0001583	missense	7067				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	g.chr17:38244663G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.892G>A	17.37:g.38244663G>A	ENSP00000264637:p.Ala298Thr					THRA_ENST00000584985.1_Missense_Mutation_p.A298T|THRA_ENST00000546243.1_Missense_Mutation_p.A298T|THRA_ENST00000394121.4_Missense_Mutation_p.A298T|THRA_ENST00000264637.4_Missense_Mutation_p.A298T	p.A298T	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			8	1383	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	298			Ligand-binding.		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.892G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	g	27.0	4.792081	0.90453	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07	5.25	5.25	0.73442	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97408	0.9152	L	0.58583	1.82	0.58432	D	0.999994	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.954;0.955;0.992	D	0.96878	0.9644	10	0.34782	T	0.22	.	17.6746	0.88227	0.0:0.0:1.0:0.0	.	298;298;298	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	T	298	ENSP00000377679:A298T;ENSP00000264637:A298T;ENSP00000395641:A298T;ENSP00000443972:A298T	ENSP00000264637:A298T	A	+	1	0	THRA	35498189	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	9.758000	0.98927	2.446000	0.82766	0.486000	0.48141	GCC		0.587	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			65	70	0	0	0	1	0	65	70					A	38244663	G	A	38244663	3	1	435	1	0	0	0	0	1	0	0	0	15870	1087	38	1	918	1	THRA	17	38244663	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18	38244663	42950547	7372	28297											
MSL1	339287	broad.mit.edu	37	chr17	38289322	38289322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgacagtgtgttttcgaagCggcatgcaaaactggagctg	11	10	13	7	2	0	1	0	1	0	0	1	3	0	2	0	2	4	4	0	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38289322C>T	ENST00000398532.4	+	6	1831	c.1516C>T	c.(1516-1518)Cgg>Tgg	p.R506W	MSL1_ENST00000579565.1_Missense_Mutation_p.R243W|MSL1_ENST00000578648.1_Missense_Mutation_p.R490W	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	506	Interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						GTTTTCGAAGCGGCATGCAAA	0.428																																						ENST00000398532.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						c.(1516-1518)Cgg>Tgg		male-specific lethal 1 homolog (Drosophila)							75	76	75					17																	38289322		1954	4161	6115	SO:0001583	missense	339287				histone H4-K16 acetylation	MSL complex		g.chr17:38289322C>T		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1516C>T	17.37:g.38289322C>T	ENSP00000381543:p.Arg506Trp					MSL1_ENST00000579565.1_Missense_Mutation_p.R243W|MSL1_ENST00000578648.1_Missense_Mutation_p.R490W	p.R506W			Q68DK7	MSL1_HUMAN			6	1831	+			506					Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	37	c.1516C>T		.	.	.	.	.	.	.	.	.	.	C	12.99	2.102815	0.37145	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	T	0.65178	-0.14	5.68	3.63	0.41609	.	0.000000	0.85682	D	0.000000	T	0.70806	0.3266	M	0.65677	2.01	0.80722	D	1	.	.	.	.	.	.	T	0.72915	-0.4147	8	0.87932	D	0	-4.1158	12.7388	0.57239	0.445:0.5549:0.0:0.0	.	.	.	.	W	243;506	ENSP00000381543:R506W	ENSP00000341409:R243W	R	+	1	2	MSL1	35542848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.301000	0.33447	0.694000	0.31654	0.655000	0.94253	CGG		0.428	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241		9	5	0	0	0	1	0	9	5					T	38289322	C	T	38289322	3	4	435	1	0	0	0	0	1	0	0	0	9877	759	27	1	745	1	MSL1	17	38289322	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44659	38289322	42905888	7373	28298											
RARA	5914	broad.mit.edu	37	chr17	38508633	38508633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacattgacctctgggacaaGttcagtgaactctccaccaa	12	9	8	12	0	3	2	1	2	2	0	4	4	3	3	3	1	1	1	3	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38508633G>T	ENST00000254066.5	+	6	1136	c.681G>T	c.(679-681)aaG>aaT	p.K227N	RARA_ENST00000394081.3_Missense_Mutation_p.K222N|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000425707.3_Missense_Mutation_p.K130N|RARA_ENST00000394086.3_Missense_Mutation_p.K243N|RARA_ENST00000394089.2_Missense_Mutation_p.K227N	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	227	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			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)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TCTGGGACAAGTTCAGTGAAC	0.567			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL																																	ENST00000254066.5				Dom	yes		17	17q12	5914	T	"retinoic acid receptor, alpha"			L	"PML, ZNF145, TIF1, NUMA1, NPM1"		APL		0				breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16						c.(679-681)aaG>aaT		retinoic acid receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)						174	144	154					17																	38508633		2203	4300	6503	SO:0001583	missense	0				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	g.chr17:38508633G>T	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"Nuclear hormone receptors"	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.681G>T	17.37:g.38508633G>T	ENSP00000254066:p.Lys227Asn					RARA_ENST00000425707.3_Missense_Mutation_p.K130N|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394081.3_Missense_Mutation_p.K222N|RARA_ENST00000394086.3_Missense_Mutation_p.K243N|RARA_ENST00000394089.2_Missense_Mutation_p.K227N	p.K227N	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	STAD - Stomach adenocarcinoma(5;0.00143)		6	1136	+		Breast(137;0.00328)	227			Ligand-binding.		B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	c.681G>T	CCDS11366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.37|10.37	1.331209|1.331209	0.24167|0.24167	.|.	.|.	ENSG00000131759|ENSG00000131759	ENST00000254066;ENST00000425707;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000420042|ENST00000319149	D;D;D;D;D|.	0.96491|.	-4.03;-4.03;-4.03;-4.03;-4.03|.	4.34|4.34	3.36|3.36	0.38483|0.38483	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);|.	.|1.037060	.|0.07634	.|N	.|0.929185	T|T	0.48714|0.48714	0.1515|0.1515	N|N	0.20483|0.20483	0.58|0.58	0.80722|0.80722	D|D	1|1	D;P;D|.	0.89917|.	0.999;0.949;1.0|.	D;D;D|.	0.73708|.	0.915;0.914;0.981|.	T|T	0.09885|0.09885	-1.0654|-1.0654	9|7	0.22109|0.21540	T|T	0.4|0.41	.|.	11.3797|11.3797	0.49750|0.49750	0.0911:0.0:0.9089:0.0|0.0911:0.0:0.9089:0.0	.|.	130;222;227|.	B8Y636;F1D8N9;P10276|.	.;.;RARA_HUMAN|.	N|I	227;130;227;243;222;114|221	ENSP00000254066:K227N;ENSP00000389993:K130N;ENSP00000377649:K227N;ENSP00000377648:K243N;ENSP00000377643:K222N|.	ENSP00000254066:K227N|ENSP00000316769:S221I	K|S	+|+	3|2	2|0	RARA|RARA	35762159|35762159	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.449000|0.449000	0.32228|0.32228	3.304000|3.304000	0.51866|0.51866	1.018000|1.018000	0.39521|0.39521	0.460000|0.460000	0.39030|0.39030	AAG|AGT		0.567	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			36	60	1	0	9.73076e-26	1	1.08706e-25	36	60					T	38508633	G	T	38508633	3	4	435	1	0	0	0	0	1	0	0	0	13052	1020	36	5	866	5	RARA	17	38508633	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	219311	38508633	42686577	7374	28299											
TOP2A	7153	broad.mit.edu	37	chr17	38548889	38548889	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacatcaaaattactttcGtcactgctcctatctgattc	10	14	6	11	1	3	1	2	1	1	0	6	2	4	2	1	1	2	1	1	1	4	4	rs190200755	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38548889G>A	ENST00000423485.1	-	30	4070	c.3912C>T	c.(3910-3912)gaC>gaT	p.D1304D	Y_RNA_ENST00000410949.1_RNA	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1304					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			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)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|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)	AATTACTTTCGTCACTGCTCC	0.388													G|||	2	0.000399361	0	0	5008	,	,		17689	0.002		0	False		,,,				2504	0					ENST00000423485.1																			0				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						c.(3910-3912)gaC>gaT		topoisomerase (DNA) II alpha 170kDa	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)	G		0,3782		0,0,1891	270	249	256		3912	-6.1	0	17		256	1,8213		0,1,4106	no	coding-synonymous	TOP2A	NM_001067.3		0,1,5997	AA,AG,GG		0.0122,0.0,0.0083		1304/1532	38548889	1,11995	1891	4107	5998	SO:0001819	synonymous_variant	7153				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	g.chr17:38548889G>A		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.3912C>T	17.37:g.38548889G>A							p.D1304D	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		30	4070	-		Breast(137;0.00328)	1304					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	ENST00000423485.1	37	c.3912C>T	CCDS45672.1																																																																																				0.388	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			41	90	0	0	0	1	0	41	90					A	38548889	G	A	38548889	2	1	435	1	0	0	0	0	0	0	0	1	16362	1136	40	1		1	TOP2A	17	38548889	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	40256	38548889	42646321	7375	28300											
TOP2A	7153	broad.mit.edu	37	chr17	38564352	38564352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccctcagtcaggataagcGtacactcagtggagtttcgg	9	10	11	11	2	3	0	3	0	0	0	5	2	4	2	1	3	2	2	1	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38564352G>A	ENST00000423485.1	-	12	1525	c.1367C>T	c.(1366-1368)aCg>aTg	p.T456M		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	456	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			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)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|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)	CAGGATAAGCGTACACTCAGT	0.393																																						ENST00000423485.1																			0				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						c.(1366-1368)aCg>aTg		topoisomerase (DNA) II alpha 170kDa	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)						48	45	46					17																	38564352		1842	4080	5922	SO:0001583	missense	7153				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	g.chr17:38564352G>A		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1367C>T	17.37:g.38564352G>A	ENSP00000411532:p.Thr456Met						p.T456M	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		12	1525	-		Breast(137;0.00328)	456					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.1367C>T	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501087	0.85176	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.26660	1.72	5.36	5.36	0.76844	DNA topoisomerase, type IIA, subunit B/N-terminal, alpha-beta (1);DNA topoisomerase, type IIA, central (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53932	0.1827	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.57613	-0.7781	10	0.87932	D	0	.	19.089	0.93219	0.0:0.0:1.0:0.0	.	456	P11388	TOP2A_HUMAN	M	456;536;479;492	ENSP00000411532:T456M	ENSP00000269577:T536M	T	-	2	0	TOP2A	35817878	1.000000	0.71417	0.988000	0.46212	0.709000	0.40893	9.845000	0.99498	2.515000	0.84797	0.591000	0.81541	ACG		0.393	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			23	16	0	0	0	1	0	23	16					A	38564352	G	A	38564352	3	1	435	1	0	0	0	0	1	0	0	0	16362	1145	40	1	3324	1	TOP2A	17	38564352	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15463	38564352	42630858	7376	28301											
CCR7	1236	broad.mit.edu	37	chr17	38711171	38711171	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtacaagaaagggttgacGcagcagcggacgcaggccag	12	3	16	10	4	0	2	0	1	0	1	0	3	0	3	1	3	3	5	1	3	3	2	rs200496791		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38711171G>A	ENST00000246657.2	-	3	1022	c.960C>T	c.(958-960)tgC>tgT	p.C320C	CCR7_ENST00000579344.1_Silent_p.C314C	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	320					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AAGGGTTGACGCAGCAGCGGA	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		23812	0		0	False		,,,				2504	0					ENST00000246657.2																			0				breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(958-960)tgC>tgT		chemokine (C-C motif) receptor 7							183	147	159					17																	38711171		2203	4300	6503	SO:0001819	synonymous_variant	1236				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	g.chr17:38711171G>A		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.960C>T	17.37:g.38711171G>A						CCR7_ENST00000579344.1_Silent_p.C314C	p.C320C	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN			3	1022	-		Breast(137;0.000496)	320						Silent	SNP	ENST00000246657.2	37	c.960C>T	CCDS11369.1																																																																																				0.582	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			14	13	0	0	0	1	0	14	13					A	38711171	G	A	38711171	2	1	435	1	0	0	0	0	0	0	0	1	2946	1079	38	1		1	CCR7	17	38711171	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	146819	38711171	42484039	7377	28302											
CCR7	1236	broad.mit.edu	37	chr17	38711730	38711730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaagctcatcttgtagatgGcaaagatgagcttgcaaaag	15	9	11	6	0	2	4	1	1	1	3	2	4	2	4	0	1	3	5	0	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38711730G>A	ENST00000246657.2	-	3	463	c.401C>T	c.(400-402)gCc>gTc	p.A134V	CCR7_ENST00000579344.1_Missense_Mutation_p.A128V	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	134					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CTTGTAGATGGCAAAGATGAG	0.567																																						ENST00000246657.2																			0				breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(400-402)gCc>gTc		chemokine (C-C motif) receptor 7							51	48	49					17																	38711730		2203	4300	6503	SO:0001583	missense	1236				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	g.chr17:38711730G>A		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.401C>T	17.37:g.38711730G>A	ENSP00000246657:p.Ala134Val					CCR7_ENST00000579344.1_Missense_Mutation_p.A128V	p.A134V	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN			3	463	-		Breast(137;0.000496)	134						Missense_Mutation	SNP	ENST00000246657.2	37	c.401C>T	CCDS11369.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573871	0.45902	.	.	ENSG00000126353	ENST00000246657	T	0.37584	1.19	4.89	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.322084	0.32372	N	0.006185	T	0.27419	0.0673	N	0.21508	0.67	0.23506	N	0.997532	B	0.17038	0.02	B	0.32211	0.142	T	0.38178	-0.9673	10	0.62326	D	0.03	.	11.4242	0.50001	0.1294:0.6129:0.2578:0.0	.	134	P32248	CCR7_HUMAN	V	134	ENSP00000246657:A134V	ENSP00000246657:A134V	A	-	2	0	CCR7	35965256	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	2.617000	0.46385	0.640000	0.30582	-0.270000	0.10280	GCC		0.567	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			7	18	0	0	0	1	0	7	18					A	38711730	G	A	38711730	3	1	435	1	0	0	0	0	1	0	0	0	2946	1203	42	3	739	3	CCR7	17	38711730	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	559	38711730	42483480	7378	28303											
KRT28	162605	broad.mit.edu	37	chr17	38950185	38950185	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttctggccctcggtctcGgttctgacctggtgcagctg	3	12	13	13	2	3	1	0	1	3	0	5	1	3	1	2	4	3	4	2	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38950185G>A	ENST00000306658.7	-	6	1157	c.1092C>T	c.(1090-1092)acC>acT	p.T364T		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CCTCGGTCTCGGTTCTGACCT	0.562																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1090-1092)acC>acT		keratin 28							144	143	143					17																	38950185		2203	4300	6503	SO:0001819	synonymous_variant	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38950185G>A	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"-", "Intermediate filaments type I, keratins (acidic)"	30842	protein-coding gene	gene with protein product			"keratin 25D"	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1092C>T	17.37:g.38950185G>A							p.T364T	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			6	1157	-		Breast(137;0.000301)	364			Coil 2.|Rod.			Silent	SNP	ENST00000306658.7	37	c.1092C>T	CCDS11376.1																																																																																				0.562	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		9	139	0	0	0	1	0	9	139					A	38950185	G	A	38950185	2	1	435	1	0	0	0	0	0	0	0	1	8465	1103	39	2		2	KRT28	17	38950185	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	238455	38950185	42245025	7379	28304											
KRT10	3858	broad.mit.edu	37	chr17	38975947	38975947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagagctgcacacagtagcGaccttctgtttctgccaagg	9	10	11	11	1	2	1	0	1	2	1	2	3	2	1	2	1	4	4	2	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38975947G>A	ENST00000269576.5	-	6	1204	c.1195C>T	c.(1195-1197)Cgc>Tgc	p.R399C	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	399	Coil 2.|Gly-rich.|Rod.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ACACAGTAGCGACCTTCTGTT	0.468																																						ENST00000269576.5																			0				NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11						c.(1195-1197)Cgc>Tgc		keratin 10							93	87	89					17																	38975947		2203	4300	6503	SO:0001583	missense	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38975947G>A	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"-", "Intermediate filaments type I, keratins (acidic)"	6413	protein-coding gene	gene with protein product	"cytokeratin 10", "epidermolytic hyperkeratosis"	148080	"keratosis palmaris et plantaris"	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.1195C>T	17.37:g.38975947G>A	ENSP00000269576:p.Arg399Cys					TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	p.R399C	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN			6	1204	-		Breast(137;0.000301)	399			Coil 2.|Gly-rich.|Rod.		Q14664|Q8N175	Missense_Mutation	SNP	ENST00000269576.5	37	c.1195C>T	CCDS11377.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452456	0.84209	.	.	ENSG00000186395	ENST00000269576	D	0.84730	-1.89	5.75	4.78	0.61160	Filament (1);	0.000000	0.36740	N	0.002424	D	0.91466	0.7306	M	0.76838	2.35	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	D	0.92253	0.5810	10	0.87932	D	0	.	12.7021	0.57038	0.0:0.1926:0.6912:0.1162	.	399	P13645	K1C10_HUMAN	C	399	ENSP00000269576:R399C	ENSP00000269576:R399C	R	-	1	0	KRT10	36229473	1.000000	0.71417	0.987000	0.45799	0.999000	0.98932	3.610000	0.54125	1.431000	0.47355	0.655000	0.94253	CGC		0.468	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		7	52	0	0	0	1	0	7	52					A	38975947	G	A	38975947	3	1	435	1	0	0	0	0	1	0	0	0	8448	1058	37	2	571	2	KRT10	17	38975947	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25762	38975947	42219263	7380	28305											
KRT10	3858	broad.mit.edu	37	chr17	38978721	38978721	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccaccaagggagcctttGctgctagaaattcttaggga	10	10	10	11	0	1	1	0	0	1	1	2	3	2	3	4	2	3	2	4	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38978721G>A	ENST00000269576.5	-	1	126	c.117C>T	c.(115-117)agC>agT	p.S39S	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	39	Gly-rich.|Head.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				GGGAGCCTTTGCTGCTAGAAA	0.582																																						ENST00000269576.5																			0				NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11						c.(115-117)agC>agT		keratin 10							65	63	64					17																	38978721		2203	4300	6503	SO:0001819	synonymous_variant	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38978721G>A	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"-", "Intermediate filaments type I, keratins (acidic)"	6413	protein-coding gene	gene with protein product	"cytokeratin 10", "epidermolytic hyperkeratosis"	148080	"keratosis palmaris et plantaris"	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.117C>T	17.37:g.38978721G>A						TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	p.S39S	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN			1	126	-		Breast(137;0.000301)	39			Gly-rich.|Head.		Q14664|Q8N175	Silent	SNP	ENST00000269576.5	37	c.117C>T	CCDS11377.1																																																																																				0.582	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		12	18	0	0	0	1	0	12	18					A	38978721	G	A	38978721	2	1	435	1	0	0	0	0	0	0	0	1	8448	1310	46	3		3	KRT10	17	38978721	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2774	38978721	42216489	7381	28306											
TMEM99	147184	broad.mit.edu	37	chr17	38991082	38991082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtctccttggtgttggctCgtggttgctcttcaacaact	4	17	10	10	1	3	0	1	0	2	0	5	0	3	0	1	3	3	4	1	3	2	5	rs201820044		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38991082C>T	ENST00000301665.3	+	3	618	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	105						integral component of membrane (GO:0016021)				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGTGTTGGCTCGTGGTTGCTC	0.468																																						ENST00000301665.3																			0				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10						c.(313-315)tCg>tTg		transmembrane protein 99		G	LEU/SER,LEU/SER,LEU/SER	0,3862		0,0,1931	158	156	157		314,314,314	-0.5	0	17		157	1,8287		0,1,4143	yes	missense,missense,missense	TMEM99	NM_001195386.1,NM_001195387.1,NM_145274.3	145,145,145	0,1,6074	TT,TC,CC		0.0121,0.0,0.0082	benign,benign,benign	105/259,105/259,105/259	38991082	1,12149	1931	4144	6075	SO:0001583	missense	147184					integral to membrane		g.chr17:38991082C>T	AK097454	CCDS42319.1	17q21.2	2008-11-06			ENSG00000167920	ENSG00000167920			28305	protein-coding gene	gene with protein product						12477932	Standard	NM_001195386		Approved	MGC21518	uc021txc.1	Q8N816	OTTHUMG00000133579	ENST00000301665.3:c.314C>T	17.37:g.38991082C>T	ENSP00000301665:p.Ser105Leu						p.S105L	NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN			3	618	+		Breast(137;0.000301)	105					B4DQ34|Q96BP9	Missense_Mutation	SNP	ENST00000301665.3	37	c.314C>T	CCDS42319.1	.	.	.	.	.	.	.	.	.	.	G	8.020	0.759521	0.15846	0.0	1.21E-4	ENSG00000167920	ENST00000436612;ENST00000301665	T;T	0.29142	1.58;1.58	0.235	-0.47	0.12131	.	.	.	.	.	T	0.12518	0.0304	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25745	-1.0123	8	0.87932	D	0	.	.	.	.	.	105	Q8N816	TMM99_HUMAN	L	105	ENSP00000390036:S105L;ENSP00000301665:S105L	ENSP00000301665:S105L	S	+	2	0	TMEM99	36244608	0.005000	0.15991	0.003000	0.11579	0.003000	0.03518	-1.587000	0.02108	-1.775000	0.01287	-1.751000	0.00678	TCG		0.468	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257681.1	NM_145274		50	68	0	0	0	1	0	50	68					T	38991082	C	T	38991082	3	4	435	1	0	0	0	0	1	0	0	0	16223	893	31	2	316	2	TMEM99	17	38991082	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12361	38991082	42204128	7382	28307											
KRT20	54474	broad.mit.edu	37	chr17	39034435	39034435	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggcggcggtaagtagcAatttcctgttcaagtcgagt	11	10	13	7	3	1	1	1	0	0	1	3	2	2	1	1	3	1	4	1	3	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39034435A>G	ENST00000167588.3	-	6	1142	c.1101T>C	c.(1099-1101)atT>atC	p.I367I		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	367	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GGTAAGTAGCAATTTCCTGTT	0.433																																						ENST00000167588.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(1099-1101)atT>atC		keratin 20							273	233	246					17																	39034435		2203	4300	6503	SO:0001819	synonymous_variant	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39034435A>G	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"-", "Intermediate filaments type I, keratins (acidic)"	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.1101T>C	17.37:g.39034435A>G							p.I367I	NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN			6	1142	-		Breast(137;0.000301)|Ovarian(249;0.15)	367			Coil 2.|Rod.		B2R6W7	Silent	SNP	ENST00000167588.3	37	c.1101T>C	CCDS11379.1																																																																																				0.433	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			19	200	0	0	0	1	0	19	200					G	39034435	A	G	39034435	2	3	435	1	0	0	0	0	0	0	0	1	8458	126	5	4		4	KRT20	17	39034435	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	43353	39034435	42160775	7383	28308											
KRT39	390792	broad.mit.edu	37	chr17	39116560	39116560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgagctctccagaaggctgCggtatgtggtaatctcacat	9	10	11	11	2	2	1	1	0	2	1	4	2	2	1	2	3	2	4	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39116560C>T	ENST00000355612.2	-	6	1225	c.1190G>A	c.(1189-1191)cGc>cAc	p.R397H	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	397	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CAGAAGGCTGCGGTATGTGGT	0.478																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(1189-1191)cGc>cAc		keratin 39							122	108	113					17																	39116560		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39116560C>T	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"-", "Intermediate filaments type I, keratins (acidic)"	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.1190G>A	17.37:g.39116560C>T	ENSP00000347823:p.Arg397His					AC004231.2_ENST00000418393.1_RNA	p.R397H	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN			6	1225	-		Breast(137;0.00043)|Ovarian(249;0.15)	397			Coil 2.|Rod.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.1190G>A	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135359	0.77662	.	.	ENSG00000196859	ENST00000355612	D	0.94687	-3.49	5.7	2.6	0.31112	Filament (1);Intermediate filament protein, conserved site (1);	0.165190	0.29335	N	0.012458	D	0.94775	0.8313	M	0.87758	2.905	0.30145	N	0.803619	P	0.45569	0.861	P	0.44696	0.458	D	0.92211	0.5776	10	0.66056	D	0.02	.	11.2334	0.48925	0.0:0.7981:0.0:0.2019	.	397	Q6A163	K1C39_HUMAN	H	397	ENSP00000347823:R397H	ENSP00000347823:R397H	R	-	2	0	KRT39	36370086	0.977000	0.34250	1.000000	0.80357	0.984000	0.73092	2.483000	0.45233	0.761000	0.33130	0.655000	0.94253	CGC		0.478	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		18	126	0	0	0	1	0	18	126					T	39116560	C	T	39116560	3	4	435	1	0	0	0	0	1	0	0	0	8476	768	27	1	293	1	KRT39	17	39116560	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	82125	39116560	42078650	7384	28309											
KRT40	125115	broad.mit.edu	37	chr17	39135121	39135121	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccagccgggccttcacGtccaggagcacctggtactc	6	7	10	18	2	1	0	1	0	0	0	4	1	3	1	6	3	3	2	6	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39135121G>A	ENST00000398486.2	-	8	1291	c.1131C>T	c.(1129-1131)gaC>gaT	p.D377D	AC004231.2_ENST00000418393.1_RNA|KRT40_ENST00000377755.4_Silent_p.D377D	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	377	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GGGCCTTCACGTCCAGGAGCA	0.587																																						ENST00000377755.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(1129-1131)gaC>gaT		keratin 40							88	96	94					17																	39135121		2203	4296	6499	SO:0001819	synonymous_variant	125115					intermediate filament	structural molecule activity	g.chr17:39135121G>A	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"-", "Intermediate filaments type I, keratins (acidic)"	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.1131C>T	17.37:g.39135121G>A						KRT40_ENST00000398486.2_Silent_p.D377D	p.D377D			Q6A162	K1C40_HUMAN			6	1165	-		Breast(137;0.00043)	377			Coil 2.|Rod.		Q6IFU5	Silent	SNP	ENST00000398486.2	37	c.1131C>T	CCDS42320.1																																																																																				0.587	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		40	61	0	0	0	1	0	40	61					A	39135121	G	A	39135121	2	1	435	1	0	0	0	0	0	0	0	1	8478	1136	40	1		1	KRT40	17	39135121	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18561	39135121	42060089	7385	28310											
KRT40	125115	broad.mit.edu	37	chr17	39137273	39137273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accattcttcagcttctctgCgattgttggcaagcaccgtt	7	14	8	12	2	3	0	1	0	2	0	4	1	3	0	2	1	3	5	2	1	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39137273C>T	ENST00000398486.2	-	6	978	c.818G>A	c.(817-819)cGc>cAc	p.R273H	KRT40_ENST00000377755.4_Missense_Mutation_p.R273H	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	273	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				AGCTTCTCTGCGATTGTTGGC	0.507																																						ENST00000377755.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(817-819)cGc>cAc		keratin 40							196	196	196					17																	39137273		2001	4189	6190	SO:0001583	missense	125115					intermediate filament	structural molecule activity	g.chr17:39137273C>T	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"-", "Intermediate filaments type I, keratins (acidic)"	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.818G>A	17.37:g.39137273C>T	ENSP00000381500:p.Arg273His					KRT40_ENST00000398486.2_Missense_Mutation_p.R273H	p.R273H			Q6A162	K1C40_HUMAN			4	852	-		Breast(137;0.00043)	273			Coil 2.|Rod.		Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	c.818G>A	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671502	0.47781	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.90004	-2.6;-2.6	5.4	3.42	0.39159	Filament (1);	0.000000	0.34156	N	0.004218	D	0.91912	0.7439	M	0.85945	2.785	0.38787	D	0.954894	B	0.31859	0.343	P	0.44696	0.458	D	0.91475	0.5200	10	0.56958	D	0.05	.	11.0432	0.47844	0.0:0.8504:0.0:0.1496	.	273	Q6A162	K1C40_HUMAN	H	273	ENSP00000366984:R273H;ENSP00000381500:R273H	ENSP00000366984:R273H	R	-	2	0	KRT40	36390799	0.081000	0.21417	1.000000	0.80357	0.788000	0.44548	0.552000	0.23376	0.766000	0.33244	0.655000	0.94253	CGC		0.507	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		52	201	0	0	0	1	0	52	201					T	39137273	C	T	39137273	3	4	435	1	0	0	0	0	1	0	0	0	8478	768	27	1	493	1	KRT40	17	39137273	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2152	39137273	42057937	7386	28311											
KRT40	125115	broad.mit.edu	37	chr17	39139338	39139338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagtttgcagttgtcaaGctgtacagcaagtctagaat	11	11	11	8	0	2	1	1	0	1	1	2	1	2	1	1	1	4	6	1	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39139338G>A	ENST00000398486.2	-	4	650	c.490C>T	c.(490-492)Ctt>Ttt	p.L164F	KRT40_ENST00000377755.4_Missense_Mutation_p.L164F	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	164	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CAGTTGTCAAGCTGTACAGCA	0.328																																						ENST00000377755.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(490-492)Ctt>Ttt		keratin 40							179	172	174					17																	39139338		1838	4090	5928	SO:0001583	missense	125115					intermediate filament	structural molecule activity	g.chr17:39139338G>A	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"-", "Intermediate filaments type I, keratins (acidic)"	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.490C>T	17.37:g.39139338G>A	ENSP00000381500:p.Leu164Phe					KRT40_ENST00000398486.2_Missense_Mutation_p.L164F	p.L164F			Q6A162	K1C40_HUMAN			2	524	-		Breast(137;0.00043)	164			Coil 1B.|Rod.		Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	c.490C>T	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949081	0.73787	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.90004	-2.6;-2.6	5.72	2.04	0.26737	Filament (1);	.	.	.	.	D	0.91449	0.7301	M	0.66297	2.02	0.30550	N	0.765597	P	0.38922	0.651	P	0.54590	0.756	D	0.87975	0.2739	9	0.87932	D	0	.	8.224	0.31558	0.0:0.121:0.3814:0.4976	.	164	Q6A162	K1C40_HUMAN	F	164	ENSP00000366984:L164F;ENSP00000381500:L164F	ENSP00000366984:L164F	L	-	1	0	KRT40	36392864	0.706000	0.27856	0.992000	0.48379	0.998000	0.95712	0.687000	0.25407	0.814000	0.34374	0.591000	0.81541	CTT		0.328	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		83	138	0	0	0	1	0	83	138					A	39139338	G	A	39139338	3	1	435	1	0	0	0	0	1	0	0	0	8478	971	34	3	829	3	KRT40	17	39139338	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2065	39139338	42055872	7387	28312											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39261978	39261978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccagctgctgtgagacgaCctgctgccaccctaggtgct	6	8	11	16	1	0	1	0	1	0	1	0	3	0	1	5	1	5	4	5	1	1	1	rs567577389		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39261978C>T	ENST00000391415.1	+	1	395	c.338C>T	c.(337-339)aCc>aTc	p.T113I		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	113	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGTGAGACGACCTGCTGCCAC	0.657																																						ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(337-339)aCc>aTc		keratin associated protein 4-9																																				SO:0001583	missense	100132386					keratin filament		g.chr17:39261978C>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.338C>T	17.37:g.39261978C>T	ENSP00000375234:p.Thr113Ile						p.T113I	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	395	+			113			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.338C>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	7.481	0.648714	0.14516	.	.	ENSG00000212722	ENST00000377734;ENST00000391415	T	0.35605	1.3	2.94	-3.49	0.04724	.	1.864260	0.03755	U	0.257206	T	0.37433	0.1003	L	0.52823	1.66	0.09310	N	1	B	0.25351	0.124	B	0.28465	0.09	T	0.52358	-0.8586	10	0.52906	T	0.07	.	13.2155	0.59856	0.0:0.783:0.217:0.0	.	113	Q9BYQ8	KRA49_HUMAN	I	101;113	ENSP00000375234:T113I	ENSP00000366963:T101I	T	+	2	0	KRTAP4-9	36515504	0.013000	0.17824	0.496000	0.27539	0.100000	0.18952	0.264000	0.18497	-0.116000	0.11893	0.456000	0.33151	ACC		0.657	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		4	14	0	0	0	1	0	4	14					T	39261978	C	T	39261978	3	4	435	1	0	0	0	0	1	0	0	0	8557	507	18	3	340	3	KRTAP4-9	17	39261978	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	122640	39261978	41933232	7388	28313											
KRTAP9-4	85280	broad.mit.edu	37	chr17	39406184	39406184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtgtgaccagctgctGccagccttcctgctgcagca	6	9	10	16	0	0	1	0	1	0	0	1	1	1	1	5	0	7	5	5	0	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39406184G>A	ENST00000334109.2	+	1	246	c.212G>A	c.(211-213)tGc>tAc	p.C71Y		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	71	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)		p.C71F(1)		breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			ACCAGCTGCTGCCAGCCTTCC	0.627																																						ENST00000334109.2																			1	Substitution - Missense(1)	p.C71F(1)	breast(1)	breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(211-213)tGc>tAc		keratin associated protein 9-4							81	75	77					17																	39406184		2203	4300	6503	SO:0001583	missense	85280					keratin filament		g.chr17:39406184G>A	AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"Keratin associated proteins"	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.212G>A	17.37:g.39406184G>A	ENSP00000334922:p.Cys71Tyr						p.C71Y	NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	246	+		Breast(137;0.000496)	71			15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].		Q0VAE3	Missense_Mutation	SNP	ENST00000334109.2	37	c.212G>A	CCDS11386.1	.	.	.	.	.	.	.	.	.	.	.	9.983	1.228802	0.22542	.	.	ENSG00000241595	ENST00000334109	T	0.02974	4.09	1.7	1.7	0.24286	.	.	.	.	.	T	0.10508	0.0257	M	0.83603	2.65	0.09310	N	1	D	0.59357	0.985	P	0.54924	0.764	T	0.06499	-1.0823	9	0.72032	D	0.01	.	9.4366	0.38643	0.0:0.0:1.0:0.0	.	71	Q9BYQ2	KRA94_HUMAN	Y	71	ENSP00000334922:C71Y	ENSP00000334922:C71Y	C	+	2	0	KRTAP9-4	36659710	1.000000	0.71417	0.005000	0.12908	0.002000	0.02628	4.962000	0.63687	1.275000	0.44379	0.505000	0.49811	TGC		0.627	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257306.1			28	43	0	0	0	1	0	28	43					A	39406184	G	A	39406184	3	1	435	1	0	0	0	0	1	0	0	0	8575	1319	46	3	214	3	KRTAP9-4	17	39406184	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	144206	39406184	41789026	7389	28314											
KRTAP9-9	81870	broad.mit.edu	37	chr17	39411907	39411907	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctgctgtgggtccagctgCtgtggccaaaccagctgtgg	6	10	14	11	0	1	0	0	0	1	0	2	0	2	0	3	3	5	4	3	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39411907C>T	ENST00000394008.1	+	1	272	c.270C>T	c.(268-270)tgC>tgT	p.C90C		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	75	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GGTCCAGCTGCTGTGGCCAAA	0.632																																						ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(268-270)tgC>tgT		keratin associated protein 9-9							59	61	60					17																	39411907		2203	4300	6503	SO:0001819	synonymous_variant	81870					keratin filament		g.chr17:39411907C>T	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"Keratin associated proteins"	16773	protein-coding gene	gene with protein product			"keratin associated protein 9-5"	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.270C>T	17.37:g.39411907C>T							p.C90C	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	272	+		Breast(137;0.000496)	90					B5MDD6|Q9BYQ1	Silent	SNP	ENST00000394008.1	37	c.270C>T	CCDS54127.1																																																																																				0.632	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		33	31	0	0	0	1	0	33	31					T	39411907	C	T	39411907	2	4	435	1	0	0	0	0	0	0	0	1	8577	805	28	3		3	KRTAP9-9	17	39411907	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5723	39411907	41783303	7390	28315											
KRT31	3881	broad.mit.edu	37	chr17	39552805	39552805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgactccaccagctgcCgcagggacagctcggtctgg	6	7	13	15	3	1	0	0	0	1	0	4	2	3	1	4	3	3	3	4	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39552805C>T	ENST00000251645.2	-	3	507	c.455G>A	c.(454-456)cGg>cAg	p.R152Q		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	152	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			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)				CACCAGCTGCCGCAGGGACAG	0.567																																						ENST00000251645.2																			0				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						c.(454-456)cGg>cAg		keratin 31							71	61	65					17																	39552805		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39552805C>T	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.455G>A	17.37:g.39552805C>T	ENSP00000251645:p.Arg152Gln						p.R152Q	NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN			3	507	-		Breast(137;0.000496)	152			Coil 1B.|Rod.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.455G>A	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	33	5.210027	0.95069	.	.	ENSG00000094796	ENST00000251645	D	0.91740	-2.9	5.11	5.11	0.69529	Filament (1);	0.000000	0.64402	D	0.000013	D	0.97476	0.9174	H	0.96333	3.805	0.36698	D	0.879938	D	0.89917	1.0	D	0.87578	0.998	D	0.99960	1.1716	10	0.72032	D	0.01	.	17.895	0.88885	0.0:1.0:0.0:0.0	.	152	Q15323	K1H1_HUMAN	Q	152	ENSP00000251645:R152Q	ENSP00000251645:R152Q	R	-	2	0	KRT31	36806331	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	4.923000	0.63412	2.523000	0.85059	0.655000	0.94253	CGG		0.567	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		20	29	0	0	0	1	0	20	29					T	39552805	C	T	39552805	3	4	435	1	0	0	0	0	1	0	0	0	8467	652	23	2	815	2	KRT31	17	39552805	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	140898	39552805	41642405	7391	28316											
KRT37	8688	broad.mit.edu	37	chr17	39578560	39578560	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccacatcctggtggtTggtctccaccatggcctcgt	4	13	10	14	1	1	0	0	0	1	0	5	0	3	0	5	4	0	2	5	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39578560T>C	ENST00000225550.3	-	4	858	c.859A>G	c.(859-861)Aac>Gac	p.N287D	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	287	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TCCTGGTGGTTGGTCTCCACC	0.592																																						ENST00000225550.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(859-861)Aac>Gac		keratin 37							188	163	171					17																	39578560		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39578560T>C	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"-", "Intermediate filaments type I, keratins (acidic)"	6455	protein-coding gene	gene with protein product		604541	"keratin, hair, acidic, 7"	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.859A>G	17.37:g.39578560T>C	ENSP00000225550:p.Asn287Asp					AC003958.2_ENST00000432258.1_RNA	p.N287D	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN			4	858	-		Breast(137;0.000496)	287			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000225550.3	37	c.859A>G	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	24.3	4.517043	0.85495	.	.	ENSG00000108417	ENST00000225550	D	0.90069	-2.61	4.83	4.83	0.62350	Filament (1);	0.234396	0.29676	N	0.011492	D	0.95601	0.8570	H	0.99609	4.655	0.33331	D	0.568545	P	0.48834	0.916	P	0.49085	0.6	D	0.99906	1.1182	10	0.87932	D	0	.	13.5746	0.61866	0.0:0.0:0.0:1.0	.	287	O76014	KRT37_HUMAN	D	287	ENSP00000225550:N287D	ENSP00000225550:N287D	N	-	1	0	KRT37	36832086	1.000000	0.71417	0.841000	0.33234	0.816000	0.46133	3.424000	0.52764	1.800000	0.52685	0.533000	0.62120	AAC		0.592	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		13	76	0	0	0	1	0	13	76					C	39578560	T	C	39578560	3	2	435	1	0	0	0	0	1	0	0	0	8474	1812	63	4	506	4	KRT37	17	39578560	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	25755	39578560	41616650	7392	28317											
KRT35	3886	broad.mit.edu	37	chr17	39635746	39635746	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgccgcagggacacctcCgtctcatacctgcaggcata	9	7	10	15	2	1	0	1	0	1	0	3	1	2	1	4	2	4	4	4	2	2	2	rs551988601		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39635746C>T	ENST00000393989.1	-	3	606	c.564G>A	c.(562-564)acG>acA	p.T188T	KRT35_ENST00000246639.2_Silent_p.T158T	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	188	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GGGACACCTCCGTCTCATACC	0.587													C|||	1	0.000199681	8e-04	0	5008	,	,		20781	0		0	False		,,,				2504	0					ENST00000246639.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(472-474)acG>acA		keratin 35							81	77	79					17																	39635746		2203	4300	6503	SO:0001819	synonymous_variant	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39635746C>T	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"-", "Intermediate filaments type I, keratins (acidic)"	6453	protein-coding gene	gene with protein product	"hard keratin type I 5"	602764	"keratin, hair, acidic, 5"	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.564G>A	17.37:g.39635746C>T						KRT35_ENST00000393989.1_Silent_p.T188T	p.T158T			Q92764	KRT35_HUMAN			3	606	-		Breast(137;0.000286)	188			Coil 1B.|Rod.		O76012|Q92651	Silent	SNP	ENST00000393989.1	37	c.474G>A	CCDS11394.2																																																																																				0.587	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		14	31	0	0	0	1	0	14	31					T	39635746	C	T	39635746	2	4	435	1	0	0	0	0	0	0	0	1	8472	639	23	2		2	KRT35	17	39635746	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	57186	39635746	41559464	7393	28318											
KRT36	8689	broad.mit.edu	37	chr17	39644629	39644629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggcctccactagctgccGcagagacagctctgtctcat	7	9	10	15	2	2	1	1	0	2	1	5	2	3	1	3	1	3	3	3	1	1	1	rs536480686	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39644629G>A	ENST00000328119.6	-	3	564	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	KRT36_ENST00000393986.2_Missense_Mutation_p.R139W	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	189	Coil 1B.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				ACTAGCTGCCGCAGAGACAGC	0.597													G|||	3	0.000599042	0	0	5008	,	,		20567	0		0	False		,,,				2504	0.0031					ENST00000393986.2																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17						c.(415-417)Cgg>Tgg		keratin 36							66	60	62					17																	39644629		2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39644629G>A	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"-", "Intermediate filaments type I, keratins (acidic)"	6454	protein-coding gene	gene with protein product		604540	"keratin, hair, acidic, 6"	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.565C>T	17.37:g.39644629G>A	ENSP00000329165:p.Arg189Trp					KRT36_ENST00000328119.6_Missense_Mutation_p.R189W	p.R139W			O76013	KRT36_HUMAN			4	627	-		Breast(137;0.000286)	189			Linker 1.|Rod.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.415C>T	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661523	0.67700	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.92099	-2.97;-2.97	5.84	2.63	0.31362	Filament (1);	0.000000	0.47455	D	0.000234	D	0.97898	0.9309	H	0.99525	4.61	0.39590	D	0.969577	D	0.89917	1.0	D	0.91635	0.999	D	0.99243	1.0885	10	0.87932	D	0	.	15.6135	0.76748	0.0:0.0:0.6232:0.3768	.	189	O76013	KRT36_HUMAN	W	139;189	ENSP00000377555:R139W;ENSP00000329165:R189W	ENSP00000329165:R189W	R	-	1	2	KRT36	36898155	1.000000	0.71417	0.968000	0.41197	0.630000	0.37929	2.653000	0.46691	0.317000	0.23160	-0.261000	0.10672	CGG		0.597	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		21	28	0	0	0	1	0	21	28					A	39644629	G	A	39644629	3	1	435	1	0	0	0	0	1	0	0	0	8473	1086	38	1	858	1	KRT36	17	39644629	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8883	39644629	41550581	7394	28319											
KRT13	3860	broad.mit.edu	37	chr17	39658806	39658806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagctgcagggcatagCggcactccgtctctgccacc	6	7	12	16	2	1	0	0	0	1	0	3	0	2	0	3	2	5	6	3	2	1	1	rs148296285	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39658806C>T	ENST00000246635.3	-	6	1110	c.1064G>A	c.(1063-1065)cGc>cAc	p.R355H	KRT13_ENST00000587544.1_Missense_Mutation_p.R355H|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Missense_Mutation_p.R355H|AC019349.5_ENST00000411759.1_RNA	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	355	Coil 2.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CAGGGCATAGCGGCACTCCGT	0.602																																						ENST00000246635.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(1063-1065)cGc>cAc		keratin 13		C	HIS/ARG,HIS/ARG	13,4393	21.2+/-45.6	0,13,2190	113	97	102		1064,1064	4.4	1	17	dbSNP_134	102	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense	KRT13	NM_002274.3,NM_153490.2	29,29	0,17,6486	TT,TC,CC		0.0465,0.2951,0.1307	probably-damaging,probably-damaging	355/421,355/459	39658806	17,12989	2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39658806C>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1064G>A	17.37:g.39658806C>T	ENSP00000246635:p.Arg355His					KRT13_ENST00000587544.1_Missense_Mutation_p.R355H|KRT13_ENST00000336861.3_Missense_Mutation_p.R355H	p.R355H	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN			6	1110	-		Breast(137;0.000286)	355			Coil 2.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.1064G>A	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005772	0.93287	0.002951	4.65E-4	ENSG00000171401	ENST00000246635;ENST00000336861	D;D	0.90385	-2.66;-2.66	4.45	4.45	0.53987	Filament (1);	0.000000	0.48286	D	0.000195	D	0.93291	0.7862	M	0.71871	2.18	0.80722	D	1	D;P;D	0.54047	0.964;0.956;0.964	P;P;P	0.54346	0.749;0.633;0.749	D	0.94206	0.7454	10	0.72032	D	0.01	.	17.6319	0.88111	0.0:1.0:0.0:0.0	.	355;355;355	A1A4E9;P13646-3;P13646	.;.;K1C13_HUMAN	H	355	ENSP00000246635:R355H;ENSP00000336604:R355H	ENSP00000246635:R355H	R	-	2	0	KRT13	36912332	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	5.889000	0.69766	2.460000	0.83146	0.478000	0.44815	CGC		0.602	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		4	97	0	0	0	1	0	4	97					T	39658806	C	T	39658806	3	4	435	1	0	0	0	0	1	0	0	0	8450	768	27	1	324	1	KRT13	17	39658806	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14177	39658806	41536404	7395	28320											
KRT13	3860	broad.mit.edu	37	chr17	39661783	39661783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccatagctggcagaggagCtctgcaggcggaggctcatg	8	7	15	11	1	2	1	1	0	1	1	3	3	3	3	1	5	3	5	1	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39661783C>T	ENST00000246635.3	-	1	66	c.20G>A	c.(19-21)aGc>aAc	p.S7N	KRT13_ENST00000587544.1_Missense_Mutation_p.S7N|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Missense_Mutation_p.S7N	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	7	Head.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GGCAGAGGAGCTCTGCAGGCG	0.612																																						ENST00000246635.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(19-21)aGc>aAc		keratin 13							51	59	56					17																	39661783		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39661783C>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.20G>A	17.37:g.39661783C>T	ENSP00000246635:p.Ser7Asn					KRT13_ENST00000587544.1_Missense_Mutation_p.S7N|KRT13_ENST00000336861.3_Missense_Mutation_p.S7N	p.S7N	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN			1	66	-		Breast(137;0.000286)	7			Head.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.20G>A	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519694	0.44866	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.83250	-1.69;-1.7	5.12	-0.85	0.10720	.	0.550750	0.16304	N	0.220327	T	0.70290	0.3207	L	0.38175	1.15	0.24027	N	0.996128	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.58165	-0.7684	10	0.45353	T	0.12	.	6.2613	0.20901	0.0:0.4604:0.2457:0.2939	.	7;7;7	P13646-2;P13646-3;P13646	.;.;K1C13_HUMAN	N	7	ENSP00000246635:S7N;ENSP00000336604:S7N	ENSP00000157775:S7N	S	-	2	0	KRT13	36915309	0.950000	0.32346	0.960000	0.40013	0.948000	0.59901	0.001000	0.13038	0.052000	0.16007	0.655000	0.94253	AGC		0.612	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		13	25	0	0	0	1	0	13	25					T	39661783	C	T	39661783	3	4	435	1	0	0	0	0	1	0	0	0	8450	797	28	3	1388	3	KRT13	17	39661783	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2977	39661783	41533427	7396	28321											
KRT9	3857	broad.mit.edu	37	chr17	39723557	39723557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttccgcttcctcctcCgtagccgccaccacttccac	5	12	5	19	3	0	1	0	1	0	0	5	1	5	1	8	0	1	2	8	0	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39723557C>T	ENST00000246662.4	-	7	1905	c.1840G>A	c.(1840-1842)Gga>Aga	p.G614R	KRT9_ENST00000588431.1_Missense_Mutation_p.G381R	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	614	Tail.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				cttcctcctccgtagccgcca	0.532																																						ENST00000246662.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1840-1842)Gga>Aga		keratin 9							107	97	101					17																	39723557		2203	4300	6503	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39723557C>T		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"-", "Intermediate filaments type I, keratins (acidic)"	6447	protein-coding gene	gene with protein product	"cytokeratin 9", "type I cytoskeletal 9", "epidermolytic palmoplantar keratoderma"	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1840G>A	17.37:g.39723557C>T	ENSP00000246662:p.Gly614Arg					KRT9_ENST00000588431.1_Missense_Mutation_p.G381R	p.G614R	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN			7	1905	-		Breast(137;0.000307)	614			Tail.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.1840G>A	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	C	0.576	-0.838904	0.02692	.	.	ENSG00000171403	ENST00000246662	D	0.82167	-1.58	3.33	-0.468	0.12146	.	0.000000	0.32041	N	0.006670	T	0.65344	0.2682	N	0.24115	0.695	0.09310	N	1	B	0.26577	0.153	B	0.15052	0.012	T	0.57406	-0.7817	10	0.87932	D	0	.	5.1408	0.14957	0.0:0.462:0.4093:0.1286	.	614	P35527	K1C9_HUMAN	R	614	ENSP00000246662:G614R	ENSP00000246662:G614R	G	-	1	0	KRT9	36977083	0.293000	0.24371	0.033000	0.17914	0.053000	0.15095	0.618000	0.24373	0.193000	0.20303	0.542000	0.68232	GGA		0.532	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		31	33	0	0	0	1	0	31	33					T	39723557	C	T	39723557	3	4	435	1	0	0	0	0	1	0	0	0	8501	661	23	2	35	2	KRT9	17	39723557	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	61774	39723557	41471653	7397	28322											
KRT14	3861	broad.mit.edu	37	chr17	39739362	39739362	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaccatctctggatgactgCgatccagaggagaactggga	11	9	12	9	1	1	3	0	1	1	2	3	7	2	5	2	3	3	0	2	3	2	1	rs373307934		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39739362C>T	ENST00000167586.6	-	7	1391	c.1305G>A	c.(1303-1305)tcG>tcA	p.S435S		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	435	Interaction with Type I keratins and keratin filaments.|Tail.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TGGATGACTGCGATCCAGAGG	0.592																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(1303-1305)tcG>tcA		keratin 14		C		0,4406		0,0,2203	67	74	71		1305	-0.6	1	17		71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT14	NM_000526.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		435/473	39739362	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39739362C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1305G>A	17.37:g.39739362C>T							p.S435S	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			7	1391	-		Breast(137;0.000307)	435			Interaction with Type I keratins and keratin filaments.|Tail.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	ENST00000167586.6	37	c.1305G>A	CCDS11400.1																																																																																				0.592	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		20	35	0	0	0	1	0	20	35					T	39739362	C	T	39739362	2	4	435	1	0	0	0	0	0	0	0	1	8451	755	27	1		1	KRT14	17	39739362	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15805	39739362	41455848	7398	28323											
KRT16	3868	broad.mit.edu	37	chr17	39768447	39768447	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatggtcttgaagtagggaCtgtagtctttgatctcactg	8	14	12	7	1	3	2	1	2	3	0	4	4	3	3	0	2	0	2	0	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39768447C>A	ENST00000301653.4	-	1	558	c.494G>T	c.(493-495)aGt>aTt	p.S165I		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	165	Linker 1.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GAAGTAGGGACTGTAGTCTTT	0.577																																						ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(493-495)aGt>aTt		keratin 16							123	122	122					17																	39768447		2203	4298	6501	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39768447C>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"-", "Intermediate filaments type I, keratins (acidic)"	6423	protein-coding gene	gene with protein product	"focal non-epidermolytic palmoplantar keratoderma"	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.494G>T	17.37:g.39768447C>A	ENSP00000301653:p.Ser165Ile						p.S165I	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			1	558	-		Breast(137;0.000307)	165			Linker 1.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.494G>T	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091511	0.36952	.	.	ENSG00000186832	ENST00000301653	D	0.89810	-2.57	4.8	2.75	0.32379	Filament (1);	0.206167	0.34002	N	0.004355	D	0.94085	0.8104	M	0.89095	3.005	0.40075	D	0.976064	D	0.54964	0.969	P	0.59825	0.864	D	0.95183	0.8301	10	0.87932	D	0	.	15.0439	0.71813	0.0:0.5943:0.4057:0.0	.	165	P08779	K1C16_HUMAN	I	165	ENSP00000301653:S165I	ENSP00000301653:S165I	S	-	2	0	KRT16	37021973	0.400000	0.25295	1.000000	0.80357	0.120000	0.20174	0.814000	0.27239	0.701000	0.31803	0.561000	0.74099	AGT		0.577	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		23	57	1	0	3.57733e-08	1	3.76749e-08	23	57					A	39768447	C	A	39768447	3	1	435	1	0	0	0	0	1	0	0	0	8453	565	20	5	959	5	KRT16	17	39768447	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29085	39768447	41426763	7399	28324											
KRT16	3868	broad.mit.edu	37	chr17	39768714	39768714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaagccactaccaaagctgCtgctgctgctgaagccaccg	10	6	10	15	2	0	1	0	1	0	0	0	2	0	1	4	0	8	5	4	0	4	1	rs374118704		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39768714C>T	ENST00000301653.4	-	1	291	c.227G>A	c.(226-228)aGc>aAc	p.S76N		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	76	Head.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				accaAAGCTGCTGCTGCTGCT	0.657																																						ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(226-228)aGc>aAc		keratin 16		C	ASN/SER	0,4406		0,0,2203	58	59	59		227	4.2	1	17		59	1,8593		0,1,4296	no	missense	KRT16	NM_005557.3	46	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	76/474	39768714	1,12999	2203	4297	6500	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39768714C>T	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"-", "Intermediate filaments type I, keratins (acidic)"	6423	protein-coding gene	gene with protein product	"focal non-epidermolytic palmoplantar keratoderma"	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.227G>A	17.37:g.39768714C>T	ENSP00000301653:p.Ser76Asn						p.S76N	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			1	291	-		Breast(137;0.000307)	76			Head.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.227G>A	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	C	9.388	1.074714	0.20227	0.0	1.16E-4	ENSG00000186832	ENST00000301653	T	0.81415	-1.49	4.21	4.21	0.49690	.	0.000000	0.52532	D	0.000077	T	0.70789	0.3264	L	0.39898	1.24	0.25849	N	0.983967	D	0.56035	0.974	B	0.42319	0.383	T	0.66767	-0.5840	10	0.45353	T	0.12	.	8.7447	0.34578	0.2751:0.585:0.1399:0.0	.	76	P08779	K1C16_HUMAN	N	76	ENSP00000301653:S76N	ENSP00000301653:S76N	S	-	2	0	KRT16	37022240	0.179000	0.23135	0.995000	0.50966	0.430000	0.31655	1.966000	0.40481	2.340000	0.79590	0.462000	0.41574	AGC		0.657	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		4	3	0	0	0	1	0	4	3					T	39768714	C	T	39768714	3	4	435	1	0	0	0	0	1	0	0	0	8453	797	28	3	1226	3	KRT16	17	39768714	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	267	39768714	41426496	7400	28325											
JUP	3728	broad.mit.edu	37	chr17	39927978	39927978	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaggcctcatcctcctcCatgatgcccttgctgctgac	5	10	8	18	1	1	2	1	2	0	0	4	2	4	2	6	1	3	3	6	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39927978C>A	ENST00000393931.3	-	2	247	c.129G>T	c.(127-129)atG>atT	p.M43I	JUP_ENST00000393930.1_Missense_Mutation_p.M43I|JUP_ENST00000310706.5_Missense_Mutation_p.M43I|JUP_ENST00000540235.1_Missense_Mutation_p.M43I	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	43					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)	p.K40_Y53del(1)		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)		CATCCTCCTCCATGATGCCCT	0.617																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			1	Deletion - In frame(1)	p.K40_Y53del(1)	breast(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(127-129)atG>atT		junction plakoglobin							100	94	96					17																	39927978		2203	4300	6503	SO:0001583	missense	3728				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	g.chr17:39927978C>A	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.129G>T	17.37:g.39927978C>A	ENSP00000377508:p.Met43Ile					JUP_ENST00000393930.1_Missense_Mutation_p.M43I|JUP_ENST00000310706.5_Missense_Mutation_p.M43I|JUP_ENST00000540235.1_Missense_Mutation_p.M43I	p.M43I	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	2	247	-		Breast(137;0.000162)	43					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.129G>T	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	C	6.316	0.426444	0.11987	.	.	ENSG00000173801	ENST00000540235;ENST00000393930;ENST00000310706;ENST00000393931;ENST00000449889;ENST00000437187;ENST00000420370;ENST00000424457;ENST00000437369	T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.02	1.74	0.24563	.	0.664574	0.16210	N	0.224527	T	0.19046	0.0457	N	0.04508	-0.205	0.25744	N	0.985124	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19943	-1.0290	10	0.22706	T	0.39	-21.5322	9.8343	0.40960	0.0:0.5571:0.3595:0.0833	.	43;43	B4DE59;P14923	.;PLAK_HUMAN	I	43	ENSP00000441751:M43I;ENSP00000377507:M43I;ENSP00000311113:M43I;ENSP00000377508:M43I;ENSP00000389886:M43I;ENSP00000394146:M43I;ENSP00000411449:M43I;ENSP00000401034:M43I;ENSP00000409948:M43I	ENSP00000311113:M43I	M	-	3	0	JUP	37181504	0.051000	0.20477	0.973000	0.42090	0.222000	0.24845	-0.147000	0.10234	0.698000	0.31739	0.542000	0.68232	ATG		0.617	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			7	20	1	0	2.17888e-05	1	2.24846e-05	7	20					A	39927978	C	A	39927978	3	1	435	1	0	0	0	0	1	0	0	0	7972	594	21	5	2160	5	JUP	17	39927978	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	159264	39927978	41267232	7401	28326											
FKBP10	60681	broad.mit.edu	37	chr17	39974444	39974444	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcacattgctgcgcccgccCcactgcccccgcatggtcca	6	6	9	20	3	0	0	0	0	0	0	1	0	1	0	6	1	4	3	6	1	0	1	rs139989453		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39974444C>T	ENST00000321562.4	+	3	599	c.495C>T	c.(493-495)ccC>ccT	p.P165P	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	165					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			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)		TGCGCCCGCCCCACTGCCCCC	0.622																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(493-495)ccC>ccT		FK506 binding protein 10, 65 kDa		C		1,4405	2.1+/-5.4	0,1,2202	63	59	61		495	0.5	0.9	17	dbSNP_134	61	0,8600		0,0,4300	no	coding-synonymous	FKBP10	NM_021939.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		165/583	39974444	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39974444C>T	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.495C>T	17.37:g.39974444C>T							p.P165P	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	3	599	+		Breast(137;0.00122)	165					Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Silent	SNP	ENST00000321562.4	37	c.495C>T	CCDS11409.1																																																																																				0.622	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		19	24	0	0	0	1	0	19	24					T	39974444	C	T	39974444	2	4	435	1	0	0	0	0	0	0	0	1	5902	610	22	3		3	FKBP10	17	39974444	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	46466	39974444	41220766	7402	28327											
KLHL10	317719	broad.mit.edu	37	chr17	39994252	39994252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggagaggaagatgagtgCgatggcctgtgagatcttca	11	9	15	6	1	2	4	1	2	1	3	2	8	2	5	1	3	1	0	1	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39994252C>T	ENST00000293303.4	+	1	221	c.68C>T	c.(67-69)gCg>gTg	p.A23V	NT5C3B_ENST00000521789.1_5'Flank|NT5C3B_ENST00000435506.2_5'Flank|NT5C3B_ENST00000269534.8_5'Flank|RN7SL871P_ENST00000583512.1_RNA|KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	23					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)		p.A23V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AAGATGAGTGCGATGGCCTGT	0.562																																						ENST00000293303.4																			1	Substitution - Missense(1)	p.A23V(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(67-69)gCg>gTg		kelch-like family member 10							140	139	140					17																	39994252		2083	4210	6293	SO:0001583	missense	317719					cytoplasm		g.chr17:39994252C>T	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.68C>T	17.37:g.39994252C>T	ENSP00000293303:p.Ala23Val					KLHL10_ENST00000485613.1_3'UTR	p.A23V	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			1	221	+		Breast(137;0.000162)	23					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.68C>T	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842145	0.51057	.	.	ENSG00000161594	ENST00000448203;ENST00000293303;ENST00000438813	D;T;D	0.83914	-1.78;-0.43;-1.65	4.98	4.98	0.66077	BTB/POZ fold (1);	0.225852	0.38058	N	0.001821	T	0.78110	0.4232	L	0.31926	0.97	0.44523	D	0.997478	D;P	0.55605	0.972;0.942	P;B	0.46049	0.502;0.446	T	0.76963	-0.2764	10	0.31617	T	0.26	.	15.1739	0.72896	0.0:1.0:0.0:0.0	.	23;23	B4DXV2;Q6JEL2	.;KLH10_HUMAN	V	23	ENSP00000391983:A23V;ENSP00000293303:A23V;ENSP00000416221:A23V	ENSP00000293303:A23V	A	+	2	0	KLHL10	37247778	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.245000	0.65405	2.622000	0.88805	0.650000	0.86243	GCG		0.562	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		29	40	0	0	0	1	0	29	40					T	39994252	C	T	39994252	3	4	435	1	0	0	0	0	1	0	0	0	8366	768	27	1	70	1	KLHL10	17	39994252	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19808	39994252	41200958	7403	28328											
KLHL10	317719	broad.mit.edu	37	chr17	39998228	39998228	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaactgcttgctgctgcAgaccagtttaacatcatggg	11	10	11	9	0	1	2	1	0	0	2	1	3	1	2	1	1	6	5	1	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39998228A>G	ENST00000293303.4	+	2	501	c.348A>G	c.(346-348)gcA>gcG	p.A116A	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	116					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TTGCTGCTGCAGACCAGTTTA	0.493																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(346-348)gcA>gcG		kelch-like family member 10							126	118	120					17																	39998228		2007	4173	6180	SO:0001819	synonymous_variant	317719					cytoplasm		g.chr17:39998228A>G	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.348A>G	17.37:g.39998228A>G						KLHL10_ENST00000485613.1_3'UTR	p.A116A	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			2	501	+		Breast(137;0.000162)	116					Q6NW28|Q96MC0	Silent	SNP	ENST00000293303.4	37	c.348A>G	CCDS42340.1																																																																																				0.493	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		17	68	0	0	0	1	0	17	68					G	39998228	A	G	39998228	2	3	435	1	0	0	0	0	0	0	0	1	8366	175	7	4		4	KLHL10	17	39998228	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	3976	39998228	41196982	7404	28329											
KLHL10	317719	broad.mit.edu	37	chr17	40001400	40001400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgcctggccctaatgcatgCtgagtacttcatgaacaatg	10	11	9	11	1	1	2	1	2	0	0	2	2	1	2	2	1	4	3	2	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40001400C>T	ENST00000293303.4	+	3	860	c.707C>T	c.(706-708)gCt>gTt	p.A236V		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	236					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				CTAATGCATGCTGAGTACTTC	0.443																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(706-708)gCt>gTt		kelch-like family member 10							87	80	82					17																	40001400		2043	4195	6238	SO:0001583	missense	317719					cytoplasm		g.chr17:40001400C>T	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.707C>T	17.37:g.40001400C>T	ENSP00000293303:p.Ala236Val						p.A236V	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			3	860	+		Breast(137;0.000162)	236					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.707C>T	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	C	7.955	0.745733	0.15710	.	.	ENSG00000161594	ENST00000293303	T	0.69040	-0.37	5.51	5.51	0.81932	BTB/Kelch-associated (2);	0.295295	0.38663	N	0.001608	T	0.54870	0.1885	N	0.16368	0.405	0.42318	D	0.992248	P;P	0.34462	0.454;0.454	B;B	0.37780	0.258;0.258	T	0.51553	-0.8691	9	.	.	.	.	18.1556	0.89689	0.0:1.0:0.0:0.0	.	230;236	B4DXV2;Q6JEL2	.;KLH10_HUMAN	V	236	ENSP00000293303:A236V	.	A	+	2	0	KLHL10	37254926	0.012000	0.17670	1.000000	0.80357	0.998000	0.95712	1.596000	0.36718	2.873000	0.98535	0.561000	0.74099	GCT		0.443	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		17	21	0	0	0	1	0	17	21					T	40001400	C	T	40001400	3	4	435	1	0	0	0	0	1	0	0	0	8366	797	28	3	717	3	KLHL10	17	40001400	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3172	40001400	41193810	7405	28330											
KLHL10	317719	broad.mit.edu	37	chr17	40001505	40001505	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatgtatgacctcaacaTgaatggaccctctaattctg	11	11	8	11	0	3	2	1	2	2	0	3	3	3	3	3	2	1	1	3	2	4	3	rs141860514		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40001505T>C	ENST00000293303.4	+	3	965	c.812T>C	c.(811-813)aTg>aCg	p.M271T		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	271					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				GACCTCAACATGAATGGACCC	0.463													T|||	1	0.000199681	0	0	5008	,	,		21578	0		0.001	False		,,,				2504	0					ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(811-813)aTg>aCg		kelch-like family member 10							159	148	152					17																	40001505		2052	4195	6247	SO:0001583	missense	317719					cytoplasm		g.chr17:40001505T>C	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.812T>C	17.37:g.40001505T>C	ENSP00000293303:p.Met271Thr						p.M271T	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			3	965	+		Breast(137;0.000162)	271					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.812T>C	CCDS42340.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	7.951	0.744814	0.15710	.	.	ENSG00000161594	ENST00000293303	T	0.68903	-0.36	6.17	6.17	0.99709	.	0.220575	0.56097	D	0.000029	T	0.46964	0.1420	N	0.15975	0.35	0.36628	D	0.876159	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.51124	-0.8745	9	.	.	.	.	10.7373	0.46133	0.0:0.0738:0.0:0.9262	.	265;271	B4DXV2;Q6JEL2	.;KLH10_HUMAN	T	271	ENSP00000293303:M271T	.	M	+	2	0	KLHL10	37255031	0.997000	0.39634	1.000000	0.80357	0.937000	0.57800	2.301000	0.43628	2.371000	0.80710	0.533000	0.62120	ATG		0.463	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		23	27	0	0	0	1	0	23	27					C	40001505	T	C	40001505	3	2	435	1	0	0	0	0	1	0	0	0	8366	1464	51	4	822	4	KLHL10	17	40001505	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	105	40001505	41193705	7406	28331											
KLHL11	55175	broad.mit.edu	37	chr17	40010842	40010842	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtattcaaatttgggttaTacctttctacagttttagca	11	18	6	6	0	2	0	1	0	1	0	2	0	2	0	1	1	3	4	1	1	6	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40010842T>C	ENST00000319121.3	-	2	1337	c.1277A>G	c.(1276-1278)tAt>tGt	p.Y426C		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	426										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				ATTTGGGTTATACCTTTCTAC	0.398																																						ENST00000319121.3																			0				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1276-1278)tAt>tGt		kelch-like family member 11							124	123	123					17																	40010842		2203	4300	6503	SO:0001583	missense	55175					extracellular region		g.chr17:40010842T>C		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"Kelch-like", "BTB/POZ domain containing"	19008	protein-coding gene	gene with protein product			"kelch-like 11 (Drosophila)"				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1277A>G	17.37:g.40010842T>C	ENSP00000314608:p.Tyr426Cys						p.Y426C	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN			2	1337	-		Breast(137;0.00156)	426						Missense_Mutation	SNP	ENST00000319121.3	37	c.1277A>G	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.259150	0.59321	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	D	0.87966	-2.32	5.42	5.42	0.78866	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.95771	0.8624	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.97277	0.9915	10	0.87932	D	0	-0.2773	15.7504	0.77980	0.0:0.0:0.0:1.0	.	426	Q9NVR0	KLH11_HUMAN	C	426;289	ENSP00000314608:Y426C	ENSP00000314608:Y426C	Y	-	2	0	KLHL11	37264368	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	7.559000	0.82265	2.170000	0.68504	0.482000	0.46254	TAT		0.398	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		57	72	0	0	0	1	0	57	72					C	40010842	T	C	40010842	3	2	435	1	0	0	0	0	1	0	0	0	8367	1406	49	4	853	4	KLHL11	17	40010842	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	9337	40010842	41184368	7407	28332											
ACLY	47	broad.mit.edu	37	chr17	40062868	40062868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttcaggcttgccccaCttttggcatcgaggtctgca	6	12	10	13	1	3	0	2	0	1	0	4	1	3	0	2	3	3	4	2	3	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40062868C>T	ENST00000352035.2	-	8	909	c.779G>A	c.(778-780)aGt>aAt	p.S260N	ACLY_ENST00000590151.1_Missense_Mutation_p.S260N|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Missense_Mutation_p.S260N|ACLY_ENST00000353196.1_Missense_Mutation_p.S260N	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	260	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		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)				GCTTGCCCCACTTTTGGCATC	0.612																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				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						c.(778-780)aGt>aAt		ATP citrate lyase							132	120	124					17																	40062868		2203	4300	6503	SO:0001583	missense	47				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	g.chr17:40062868C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.779G>A	17.37:g.40062868C>T	ENSP00000253792:p.Ser260Asn					ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Missense_Mutation_p.S260N|ACLY_ENST00000393896.2_Missense_Mutation_p.S260N|ACLY_ENST00000590151.1_Missense_Mutation_p.S260N	p.S260N	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			8	909	-		Breast(137;0.000143)	260					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.779G>A	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445271	0.96187	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000393896	T;T;T	0.81163	-1.46;-1.46;-1.46	5.76	5.76	0.90799	Succinyl-CoA synthetase-like (1);	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	M	0.88310	2.945	0.80722	D	1	B;B;P;B	0.37441	0.234;0.125;0.595;0.234	B;B;B;B	0.35470	0.035;0.021;0.203;0.024	D	0.86955	0.2088	10	0.87932	D	0	.	20.3277	0.98707	0.0:1.0:0.0:0.0	.	314;314;260;260	B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;ACLY_HUMAN	N	260;314;260;260	ENSP00000253792:S260N;ENSP00000345398:S260N;ENSP00000377474:S260N	ENSP00000253792:S260N	S	-	2	0	ACLY	37316394	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.574000	0.82434	2.879000	0.98667	0.650000	0.86243	AGT		0.612	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		27	36	0	0	0	1	0	27	36					T	40062868	C	T	40062868	3	4	435	1	0	0	0	0	1	0	0	0	143	565	20	3	2614	3	ACLY	17	40062868	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	52026	40062868	41132342	7408	28333											
TTC25	83538	broad.mit.edu	37	chr17	40095414	40095414	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacagaaaggacctggagatCgccaaggaatagtgagtgcc	14	5	13	9	1	0	3	0	1	0	2	1	6	0	5	3	3	1	0	3	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40095414C>T	ENST00000591658.1	+	0	1115							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				ACCTGGAGATCGCCAAGGAAT	0.587																																						ENST00000591658.1																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12								tetratricopeptide repeat domain 25							39	42	41					17																	40095414		2074	4208	6282			83538					cytoplasm	protein binding	g.chr17:40095414C>T	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"Tetratricopeptide (TTC) repeat domain containing"	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40095414C>T										Q96NG3	TTC25_HUMAN			0	1115	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)						Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP	ENST00000591658.1	37																																																																																						0.587	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1	NM_031421		8	4	0	0	0	1	0	8	4					T	40095414	C	T	40095414	1	4	435	0	1	0	0	0	0	0	0	0	16690	874	31	2		2	TTC25	17	40095414	RNA	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32546	40095414	41099796	7409	28334											
KAT2A	2648	broad.mit.edu	37	chr17	40265744	40265744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggcacagcggcagtactCgctgtccggggggttgtact	5	9	16	11	3	0	0	0	0	0	0	2	0	1	0	1	5	3	7	1	5	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40265744C>T	ENST00000225916.5	-	18	2490	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	813	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			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						CGGCAGTACTCGCTGTCCGGG	0.617																																						ENST00000225916.5																			0				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						c.(2437-2439)Gag>Aag		K(lysine) acetyltransferase 2A							35	35	35					17																	40265744		2203	4300	6503	SO:0001583	missense	2648				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	g.chr17:40265744C>T	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.2437G>A	17.37:g.40265744C>T	ENSP00000225916:p.Glu813Lys						p.E813K	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			18	2490	-			813			Bromo.		Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.2437G>A	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	36	5.727567	0.96847	.	.	ENSG00000108773	ENST00000225916	T	0.30448	1.53	5.03	5.03	0.67393	Bromodomain (6);	0.128495	0.52532	D	0.000068	T	0.55353	0.1915	M	0.84773	2.715	0.80722	D	1	D	0.67145	0.996	P	0.56088	0.791	T	0.63283	-0.6672	10	0.52906	T	0.07	-27.8168	18.4301	0.90622	0.0:1.0:0.0:0.0	.	813	Q92830	KAT2A_HUMAN	K	813	ENSP00000225916:E813K	ENSP00000225916:E813K	E	-	1	0	KAT2A	37519270	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.773000	0.85462	2.360000	0.80028	0.556000	0.70494	GAG		0.617	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		23	23	0	0	0	1	0	23	23					T	40265744	C	T	40265744	3	4	435	1	0	0	0	0	1	0	0	0	7981	893	31	2	80	2	KAT2A	17	40265744	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	170330	40265744	40929466	7410	28335											
KAT2A	2648	broad.mit.edu	37	chr17	40272789	40272789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgctgcagatccatgCggggtgcagtggggggcttg	4	9	19	9	1	0	1	0	0	0	1	1	1	1	1	1	6	4	5	1	6	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40272789C>T	ENST00000225916.5	-	2	451	c.398G>A	c.(397-399)cGc>cAc	p.R133H	CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.R167H|HSPB9_ENST00000355067.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	133					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)	p.R133H(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						CAGATCCATGCGGGGTGCAGT	0.602																																						ENST00000225916.5																			1	Substitution - Missense(1)	p.R133H(1)	prostate(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						c.(397-399)cGc>cAc		K(lysine) acetyltransferase 2A							49	56	54					17																	40272789		2203	4300	6503	SO:0001583	missense	2648				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	g.chr17:40272789C>T	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.398G>A	17.37:g.40272789C>T	ENSP00000225916:p.Arg133His					CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.R167H	p.R133H	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			2	451	-			133					Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.398G>A	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733316	0.89482	.	.	ENSG00000108773	ENST00000225916	T	0.05786	3.39	5.39	5.39	0.77823	PCAF, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	L	0.50333	1.59	0.80722	D	1	D	0.62365	0.991	D	0.63033	0.91	T	0.00088	-1.2091	10	0.38643	T	0.18	-22.4655	19.3359	0.94319	0.0:1.0:0.0:0.0	.	133	Q92830	KAT2A_HUMAN	H	133	ENSP00000225916:R133H	ENSP00000225916:R133H	R	-	2	0	KAT2A	37526315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.750000	0.62162	2.809000	0.96659	0.555000	0.69702	CGC		0.602	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		18	38	0	0	0	1	0	18	38					T	40272789	C	T	40272789	3	4	435	1	0	0	0	0	1	0	0	0	7981	768	27	1	2183	1	KAT2A	17	40272789	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7045	40272789	40922421	7411	28336											
KCNH4	23415	broad.mit.edu	37	chr17	40321646	40321646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgagcggcgcgagtacatgCgctggatgatggctgtcacg	7	7	17	10	6	1	1	1	1	0	0	1	4	1	2	0	3	3	3	0	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40321646C>T	ENST00000264661.3	-	9	1771	c.1439G>A	c.(1438-1440)cGc>cAc	p.R480H	KCNH4_ENST00000607371.1_Missense_Mutation_p.R480H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	480					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CGAGTACATGCGCTGGATGAT	0.667																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1438-1440)cGc>cAc		potassium voltage-gated channel, subfamily H (eag-related), member 4							89	72	78					17																	40321646		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40321646C>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1439G>A	17.37:g.40321646C>T	ENSP00000264661:p.Arg480His					KCNH4_ENST00000607371.1_Missense_Mutation_p.R480H	p.R480H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1771	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	480						Missense_Mutation	SNP	ENST00000264661.3	37	c.1439G>A	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236536	0.95240	.	.	ENSG00000089558	ENST00000264661	D	0.98044	-4.68	4.36	4.36	0.52297	.	0.000000	0.37348	N	0.002139	D	0.98883	0.9622	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	D	0.99705	1.1005	10	0.87932	D	0	.	17.084	0.86605	0.0:1.0:0.0:0.0	.	480	Q9UQ05	KCNH4_HUMAN	H	480	ENSP00000264661:R480H	ENSP00000264661:R480H	R	-	2	0	KCNH4	37575172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.616000	0.83018	2.255000	0.74692	0.462000	0.41574	CGC		0.667	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		19	22	0	0	0	1	0	19	22					T	40321646	C	T	40321646	3	4	435	1	0	0	0	0	1	0	0	0	8034	768	27	1	1646	1	KCNH4	17	40321646	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	48857	40321646	40873564	7412	28337											
STAT5B	6777	broad.mit.edu	37	chr17	40362188	40362188	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaagggaggggcactcaCgagaatcaaacttccaagca	16	5	11	9	1	2	2	2	0	0	2	3	4	3	3	1	3	2	2	1	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40362188C>T	ENST00000293328.3	-	15	2075		c.e15+1			NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B						2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			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)	GGGGCACTCACGAGAATCAAA	0.418																																						ENST00000293328.3																			0				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						c.e15+1		signal transducer and activator of transcription 5B	Dasatinib(DB01254)						104	93	96					17																	40362188		2203	4300	6503	SO:0001630	splice_region_variant	6777				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	g.chr17:40362188C>T	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1906+1G>A	17.37:g.40362188C>T								NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	15	2075	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)						Q8WWS8	Splice_Site	SNP	ENST00000293328.3	37		CCDS11423.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163864	0.57476	.	.	ENSG00000173757	ENST00000293328	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1568	0.93514	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STAT5B	37615714	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	4.058000	0.57463	2.832000	0.97577	0.655000	0.94253	.		0.418	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448	Intron	14	21	0	0	0	1	0	14	21					T	40362188	C	T	40362188	5	4	435	1	0	0	0	0	0	0	1	0	15268	550	19	1	476	1	STAT5B	17	40362188	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	40542	40362188	40833022	7413	28338											
PTRF	284119	broad.mit.edu	37	chr17	40557039	40557039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctcggcgggcaccaggCgcgtgcccagcttgttcatg	4	7	15	15	5	1	0	1	0	0	0	2	0	1	0	3	3	2	4	3	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40557039C>T	ENST00000357037.5	-	2	1258	c.839G>A	c.(838-840)cGc>cAc	p.R280H		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GGGCACCAGGCGCGTGCCCAG	0.637																																						ENST00000357037.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(838-840)cGc>cAc		polymerase I and transcript release factor							96	85	89					17																	40557039		2203	4300	6503	SO:0001583	missense	284119				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	g.chr17:40557039C>T	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.839G>A	17.37:g.40557039C>T	ENSP00000349541:p.Arg280His						p.R280H	NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1258	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	280						Missense_Mutation	SNP	ENST00000357037.5	37	c.839G>A	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629869	0.87660	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.62498	0.02	5.81	4.79	0.61399	.	0.195430	0.39759	N	0.001276	T	0.64918	0.2642	L	0.49778	1.585	0.35720	D	0.817102	D;D	0.69078	0.997;0.997	P;P	0.59703	0.862;0.862	T	0.73157	-0.4071	10	0.87932	D	0	-17.3842	3.7874	0.08705	0.215:0.6044:0.0:0.1807	.	262;280	B4DNU9;Q6NZI2	.;PTRF_HUMAN	H	280;235	ENSP00000349541:R280H	ENSP00000349541:R280H	R	-	2	0	PTRF	37810565	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.999000	0.49473	2.755000	0.94549	0.544000	0.68410	CGC		0.637	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		21	28	0	0	0	1	0	21	28					T	40557039	C	T	40557039	3	4	435	1	0	0	0	0	1	0	0	0	12815	768	27	1	337	1	PTRF	17	40557039	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	194851	40557039	40638171	7414	28339											
ATP6V0A1	535	broad.mit.edu	37	chr17	40629708	40629708	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacttgttggaagagtccTcatccctcttggagccaagt	9	11	10	11	0	2	2	1	0	1	2	4	4	4	4	3	2	1	1	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40629708T>C	ENST00000343619.4	+	6	577	c.454T>C	c.(454-456)Tca>Cca	p.S152P	ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.S152P|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.S109P|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.S159P|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.S109P|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.S152P	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	152					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			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)		GGAAGAGTCCTCATCCCTCTT	0.443																																						ENST00000343619.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(454-456)Tca>Cca		ATPase, H+ transporting, lysosomal V0 subunit a1							159	134	142					17																	40629708		2203	4300	6503	SO:0001583	missense	535				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	g.chr17:40629708T>C	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.454T>C	17.37:g.40629708T>C	ENSP00000342951:p.Ser152Pro					ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.S152P|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.S152P|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.S109P|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.S159P|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.S109P	p.S152P	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	6	577	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	152					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.454T>C	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.186091	0.57909	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.91938	0.7447	M	0.77712	2.385	0.80722	D	1	P;P;B;P;P	0.52463	0.85;0.953;0.001;0.904;0.903	P;P;B;P;P	0.59825	0.658;0.864;0.009;0.807;0.857	D	0.89927	0.4063	10	0.19590	T	0.45	-10.2596	16.5724	0.84622	0.0:0.0:0.0:1.0	.	109;109;159;152;152	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	P	152;152;152;159;109	ENSP00000342951:S152P;ENSP00000444676:S152P;ENSP00000377415:S152P;ENSP00000264649:S159P;ENSP00000443991:S109P	ENSP00000264649:S159P	S	+	1	0	ATP6V0A1	37883234	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.015000	0.57152	2.313000	0.78055	0.455000	0.32223	TCA		0.443	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		18	41	0	0	0	1	0	18	41					C	40629708	T	C	40629708	3	2	435	1	0	0	0	0	1	0	0	0	1168	1551	54	4	493	4	ATP6V0A1	17	40629708	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	72669	40629708	40565502	7415	28340											
ATP6V0A1	535	broad.mit.edu	37	chr17	40652751	40652751	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagaagcccctgaatatctActttggatttattcctgaaa	13	13	6	9	0	1	3	0	2	1	1	2	4	2	4	3	1	2	0	3	1	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40652751A>G	ENST00000343619.4	+	16	1829	c.1706A>G	c.(1705-1707)tAc>tGc	p.Y569C	ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.Y569C|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.Y526C|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.Y576C|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.Y215C|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.Y526C|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.Y569C	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	569					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			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)		CTGAATATCTACTTTGGATTT	0.383																																						ENST00000343619.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1705-1707)tAc>tGc		ATPase, H+ transporting, lysosomal V0 subunit a1							130	125	127					17																	40652751		2203	4300	6503	SO:0001583	missense	535				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	g.chr17:40652751A>G	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1706A>G	17.37:g.40652751A>G	ENSP00000342951:p.Tyr569Cys					ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.Y215C|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.Y569C|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.Y569C|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.Y526C|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.Y576C|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.Y526C	p.Y569C	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	16	1829	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	569					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.1706A>G	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.666241	0.67814	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.3	5.3	0.74995	.	0.051009	0.85682	D	0.000000	D	0.91129	0.7207	L	0.48986	1.54	0.58432	D	0.999996	D;B;B;D;P	0.71674	0.986;0.002;0.004;0.998;0.937	P;B;B;D;P	0.71870	0.895;0.021;0.033;0.975;0.753	D	0.91890	0.5523	10	0.66056	D	0.02	-21.038	15.4202	0.75006	1.0:0.0:0.0:0.0	.	526;526;576;569;569	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	C	569;569;569;576;526;215	ENSP00000342951:Y569C;ENSP00000444676:Y569C;ENSP00000377415:Y569C;ENSP00000264649:Y576C;ENSP00000443991:Y526C;ENSP00000446377:Y215C	ENSP00000264649:Y576C	Y	+	2	0	ATP6V0A1	37906277	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.659000	0.68010	2.231000	0.72958	0.459000	0.35465	TAC		0.383	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		37	49	0	0	0	1	0	37	49					G	40652751	A	G	40652751	3	3	435	1	0	0	0	0	1	0	0	0	1168	391	14	4	1785	4	ATP6V0A1	17	40652751	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	23043	40652751	40542459	7416	28341											
ATP6V0A1	535	broad.mit.edu	37	chr17	40652859	40652859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcatacctctgagaatgCaccaagccttctgatccatt	10	12	6	13	0	3	2	1	2	2	1	4	3	4	2	4	0	4	2	4	0	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40652859C>T	ENST00000343619.4	+	16	1937	c.1814C>T	c.(1813-1815)gCa>gTa	p.A605V	ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.A605V|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.A562V|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.A612V|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.A251V|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.A562V|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.A605V	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	605					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			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)		TCTGAGAATGCACCAAGCCTT	0.408																																						ENST00000343619.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1813-1815)gCa>gTa		ATPase, H+ transporting, lysosomal V0 subunit a1							223	200	208					17																	40652859		2203	4300	6503	SO:0001583	missense	535				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	g.chr17:40652859C>T	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1814C>T	17.37:g.40652859C>T	ENSP00000342951:p.Ala605Val					ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.A251V|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.A605V|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.A605V|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.A562V|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.A612V|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.A562V	p.A605V	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	16	1937	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	605					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.1814C>T	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	C	35	5.545099	0.96488	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.94889	0.8348	M	0.90977	3.165	0.80722	D	1	D;D;D;P;D	0.67145	0.986;0.994;0.994;0.952;0.996	P;D;D;P;D	0.73708	0.9;0.981;0.973;0.901;0.964	D	0.95675	0.8727	10	0.87932	D	0	-15.2552	18.6406	0.91394	0.0:1.0:0.0:0.0	.	562;562;612;605;605	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	V	605;605;605;612;562;251	ENSP00000342951:A605V;ENSP00000444676:A605V;ENSP00000377415:A605V;ENSP00000264649:A612V;ENSP00000443991:A562V;ENSP00000446377:A251V	ENSP00000264649:A612V	A	+	2	0	ATP6V0A1	37906385	1.000000	0.71417	0.798000	0.32154	0.998000	0.95712	7.609000	0.82925	2.716000	0.92895	0.561000	0.74099	GCA		0.408	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		43	71	0	0	0	1	0	43	71					T	40652859	C	T	40652859	3	4	435	1	0	0	0	0	1	0	0	0	1168	710	25	3	1893	3	ATP6V0A1	17	40652859	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	108	40652859	40542351	7417	28342											
PLEKHH3	79990	broad.mit.edu	37	chr17	40825731	40825731	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcacgaggctcccgagacgCcgcgcccctttcccgctgct	5	6	11	19	6	0	1	0	0	0	1	2	3	2	1	5	1	2	4	5	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40825731C>T	ENST00000591022.1	-	4	807	c.420G>A	c.(418-420)cgG>cgA	p.R140R	PLEKHH3_ENST00000412503.1_Silent_p.R140R|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_Silent_p.R140R	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	140	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				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)		TCCCGAGACGCCGCGCCCCTT	0.701																																						ENST00000293349.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(418-420)cgG>cgA		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3							14	15	15					17																	40825731		2092	4117	6209	SO:0001819	synonymous_variant	79990				signal transduction	cytoskeleton		g.chr17:40825731C>T	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.420G>A	17.37:g.40825731C>T						PLEKHH3_ENST00000412503.1_Silent_p.R140R|PLEKHH3_ENST00000591022.1_Silent_p.R140R|PLEKHH3_ENST00000456950.2_5'UTR	p.R140R			Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	4	850	-		Breast(137;0.00116)	140			PH.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Silent	SNP	ENST00000591022.1	37	c.420G>A	CCDS11434.1																																																																																				0.701	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		7	16	0	0	0	1	0	7	16					T	40825731	C	T	40825731	2	4	435	1	0	0	0	0	0	0	0	1	12078	726	26	3		3	PLEKHH3	17	40825731	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	172872	40825731	40369479	7418	28343											
CNTNAP1	8506	broad.mit.edu	37	chr17	40845554	40845554	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggccatactgcaaccacGgtaagtgctgctggttatgg	9	10	13	9	1	0	0	0	0	0	0	0	0	0	0	2	4	5	5	2	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40845554G>A	ENST00000264638.4	+	18	3209	c.2992G>A	c.(2992-2994)Gat>Aat	p.D998N	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	998					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTGCAACCACGGTAAGTGCTG	0.542																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.e18+1		contactin associated protein 1							100	95	96					17																	40845554		2203	4300	6503	SO:0001630	splice_region_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40845554G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2992+1G>A	17.37:g.40845554G>A						CTD-3193K9.3_ENST00000592440.1_RNA	p.D998_splice	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	18	3209	+		Breast(137;0.000143)	998						Splice_Site	SNP	ENST00000264638.4	37	c.2992_splice	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607082	0.87157	.	.	ENSG00000108797	ENST00000264638	T	0.79141	-1.24	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000001	T	0.72653	0.3487	L	0.52126	1.63	0.58432	D	0.999999	P	0.43287	0.802	B	0.34180	0.177	T	0.74853	-0.3523	10	0.44086	T	0.13	.	19.815	0.96564	0.0:0.0:1.0:0.0	.	998	P78357	CNTP1_HUMAN	N	998	ENSP00000264638:D998N	ENSP00000264638:D998N	D	+	1	0	CNTNAP1	38099080	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	6.654000	0.74387	2.681000	0.91329	0.561000	0.74099	GAT		0.542	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632	Missense_Mutation	12	70	0	0	0	1	0	12	70					A	40845554	G	A	40845554	5	1	435	1	0	0	0	0	0	0	1	0	3646	1130	39	2	3062	2	CNTNAP1	17	40845554	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19823	40845554	40349656	7419	28344											
EZH1	2145	broad.mit.edu	37	chr17	40870502	40870502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcgtatttaaagcagcGccggcaaaaaagtgtgtgga	13	8	13	7	3	0	0	0	0	0	0	1	1	0	1	1	2	2	4	1	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40870502G>A	ENST00000428826.2	-	9	1022	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	EZH1_ENST00000590078.1_Missense_Mutation_p.R231C|EZH1_ENST00000592743.1_Missense_Mutation_p.R301C|EZH1_ENST00000435174.1_Missense_Mutation_p.R162C|EZH1_ENST00000585893.1_Missense_Mutation_p.R261C|EZH1_ENST00000415827.2_Missense_Mutation_p.R292C			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	301					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			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)		TTAAAGCAGCGCCGGCAAAAA	0.532																																						ENST00000428826.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(901-903)Cgc>Tgc		enhancer of zeste homolog 1 (Drosophila)							84	77	80					17																	40870502		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40870502G>A		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.901C>T	17.37:g.40870502G>A	ENSP00000404658:p.Arg301Cys					EZH1_ENST00000590078.1_Missense_Mutation_p.R231C|EZH1_ENST00000585893.1_Missense_Mutation_p.R261C|EZH1_ENST00000435174.1_Missense_Mutation_p.R162C|EZH1_ENST00000415827.2_Missense_Mutation_p.R292C|EZH1_ENST00000592743.1_Missense_Mutation_p.R301C	p.R301C			Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	9	1022	-		Breast(137;0.00104)	301					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.901C>T	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126195	0.94429	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.80123	-1.34;-1.34	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.89308	0.6678	M	0.86420	2.815	0.80722	D	1	P;D;P;D	0.60575	0.839;0.988;0.944;0.98	B;P;P;P	0.57009	0.347;0.811;0.714;0.651	D	0.91336	0.5093	10	0.72032	D	0.01	.	18.2284	0.89926	0.0:0.0:1.0:0.0	.	162;261;307;301	Q92800-5;Q92800-3;Q92800-2;Q92800	.;.;.;EZH1_HUMAN	C	304;301;261;162	ENSP00000404658:R301C;ENSP00000404071:R162C	ENSP00000264646:R304C	R	-	1	0	EZH1	38124028	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.573000	0.98181	2.605000	0.88082	0.655000	0.94253	CGC		0.532	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		8	33	0	0	0	1	0	8	33					A	40870502	G	A	40870502	3	1	435	1	0	0	0	0	1	0	0	0	5333	1087	38	1	1394	1	EZH1	17	40870502	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24948	40870502	40324708	7420	28345											
WNK4	65266	broad.mit.edu	37	chr17	40933278	40933278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacgtggctccttcaagacgGtgtatcgagggctagacacc	9	8	13	11	3	1	2	1	0	0	2	3	4	2	2	2	3	0	3	2	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40933278G>A	ENST00000246914.5	+	1	583	c.562G>A	c.(562-564)Gtg>Atg	p.V188M		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			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)		CTTCAAGACGGTGTATCGAGG	0.607																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				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						c.(562-564)Gtg>Atg		WNK lysine deficient protein kinase 4							107	78	88					17																	40933278		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40933278G>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.562G>A	17.37:g.40933278G>A	ENSP00000246914:p.Val188Met						p.V188M	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	1	583	+		Breast(137;0.000143)	188			Protein kinase.		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.562G>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	G	35	5.550349	0.96501	.	.	ENSG00000126562	ENST00000246914	T	0.61392	0.11	5.08	5.08	0.68730	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45126	D	0.000395	D	0.86045	0.5839	H	0.98446	4.235	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	D	0.91511	0.5227	10	0.87932	D	0	-19.0501	18.6692	0.91504	0.0:0.0:1.0:0.0	.	188	Q96J92	WNK4_HUMAN	M	188	ENSP00000246914:V188M	ENSP00000246914:V188M	V	+	1	0	WNK4	38186804	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.816000	0.86201	2.638000	0.89438	0.563000	0.77884	GTG		0.607	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			5	35	0	0	0	1	0	5	35					A	40933278	G	A	40933278	3	1	435	1	0	0	0	0	1	0	0	0	17377	1261	44	3	564	3	WNK4	17	40933278	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62776	40933278	40261932	7421	28346											
BECN1	8678	broad.mit.edu	37	chr17	40962900	40962900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttgatggaataggagcCgccactgcctcctgtgtctt	6	13	12	10	1	1	1	0	1	1	0	2	3	2	3	4	3	2	1	4	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40962900C>T	ENST00000361523.4	-	12	1363	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S	CNTD1_ENST00000315066.5_3'UTR|BECN1_ENST00000438274.3_3'UTR|BECN1_ENST00000590099.1_Missense_Mutation_p.G411S	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	411					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		GAATAGGAGCCGCCACTGCCT	0.463																																						ENST00000361523.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13						c.(1231-1233)Ggc>Agc		beclin 1, autophagy related							77	71	73					17																	40962900		2203	4300	6503	SO:0001583	missense	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40962900C>T	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"ATG6 autophagy related 6 homolog (S. cerevisiae)"	604378	"beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.1231G>A	17.37:g.40962900C>T	ENSP00000355231:p.Gly411Ser					BECN1_ENST00000438274.3_3'UTR|BECN1_ENST00000590099.1_Missense_Mutation_p.G411S|CNTD1_ENST00000315066.5_3'UTR	p.G411S	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	12	1363	-		Breast(137;0.00104)	411					B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	c.1231G>A	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100193	0.56183	.	.	ENSG00000126581	ENST00000361523;ENST00000543382	T	0.35421	1.31	6.02	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.51422	1.61	0.80722	D	1	P	0.47034	0.889	B	0.39503	0.301	T	0.14476	-1.0471	10	0.42905	T	0.14	.	15.3617	0.74483	0.0:0.9335:0.0:0.0665	.	411	Q14457	BECN1_HUMAN	S	411;324	ENSP00000355231:G411S	ENSP00000355231:G411S	G	-	1	0	BECN1	38216426	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	7.786000	0.85741	1.570000	0.49709	0.655000	0.94253	GGC		0.463	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		28	37	0	0	0	1	0	28	37					T	40962900	C	T	40962900	3	4	435	1	0	0	0	0	1	0	0	0	1396	652	23	2	125	2	BECN1	17	40962900	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29622	40962900	40232310	7422	28347											
AOC2	314	broad.mit.edu	37	chr17	40998087	40998087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatggggcacttgaagggCgggtccatgccacgggttat	9	8	15	9	2	0	1	0	1	0	0	1	1	1	1	2	5	1	2	2	5	3	2	rs151168110		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40998087C>T	ENST00000253799.3	+	1	1471	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W	AOC2_ENST00000452774.2_Missense_Mutation_p.R482W	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	482					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.R482W(1)		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)		ACTTGAAGGGCGGGTCCATGC	0.547																																						ENST00000253799.3																			1	Substitution - Missense(1)	p.R482W(1)	large_intestine(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(1444-1446)Cgg>Tgg		amine oxidase, copper containing 2 (retina-specific)		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	109	106	107		1444,1444	2	0.4	17	dbSNP_134	107	0,8600		0,0,4300	no	missense,missense	AOC2	NM_001158.3,NM_009590.2	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	482/730,482/757	40998087	1,13005	2203	4300	6503	SO:0001583	missense	314				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	g.chr17:40998087C>T	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1444C>T	17.37:g.40998087C>T	ENSP00000253799:p.Arg482Trp					AOC2_ENST00000452774.2_Missense_Mutation_p.R482W	p.R482W	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1471	+		Breast(137;0.000143)	482					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.1444C>T	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207614	0.39003	2.27E-4	0.0	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.03831	3.79;3.79	5.23	1.96	0.26148	Copper amine oxidase, C-terminal (3);	0.089274	0.50627	D	0.000118	T	0.19406	0.0466	M	0.76002	2.32	0.44469	D	0.997402	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.975	T	0.00443	-1.1736	10	0.87932	D	0	-1.194	14.6237	0.68605	0.6848:0.3152:0.0:0.0	.	482;482	O75106;O75106-2	AOC2_HUMAN;.	W	482	ENSP00000253799:R482W;ENSP00000406134:R482W	ENSP00000253799:R482W	R	+	1	2	AOC2	38251613	1.000000	0.71417	0.450000	0.26969	0.501000	0.33797	3.040000	0.49799	0.154000	0.19237	-0.282000	0.10007	CGG		0.547	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		5	88	0	0	0	1	0	5	88					T	40998087	C	T	40998087	3	4	435	1	0	0	0	0	1	0	0	0	727	759	27	1	1446	1	AOC2	17	40998087	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	35187	40998087	40197123	7423	28348											
AOC3	8639	broad.mit.edu	37	chr17	41003967	41003967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accactgttgcttctacaagCaccggggacggaacctggtg	9	8	12	12	2	1	0	0	0	1	0	1	2	1	2	3	4	4	3	3	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41003967C>T	ENST00000308423.2	+	1	767	c.607C>T	c.(607-609)Cac>Tac	p.H203Y	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	203			H -> R (in dbSNP:rs630079).		amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			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)	CTTCTACAAGCACCGGGGACG	0.592																																					NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(607-609)Cac>Tac		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)						24	24	24					17																	41003967		2202	4300	6502	SO:0001583	missense	8639				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	g.chr17:41003967C>T	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.607C>T	17.37:g.41003967C>T	ENSP00000312326:p.His203Tyr						p.H203Y	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	767	+		Breast(137;0.000143)	203		H -> R (in dbSNP:rs630079).			B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.607C>T	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.087645	0.00034	.	.	ENSG00000131471	ENST00000308423	T	0.27890	1.64	3.69	1.54	0.23209	Copper amine oxidase, N3-terminal (1);Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	2.871800	0.01125	N	0.005871	T	0.12518	0.0304	N	0.03608	-0.345	0.09310	N	0.999995	B	0.17852	0.024	B	0.20384	0.029	T	0.32455	-0.9906	10	0.02654	T	1	.	3.5104	0.07706	0.1845:0.4936:0.0:0.3219	.	203	Q16853	AOC3_HUMAN	Y	203	ENSP00000312326:H203Y	ENSP00000312326:H203Y	H	+	1	0	AOC3	38257493	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	1.092000	0.30927	0.459000	0.27016	0.491000	0.48974	CAC		0.592	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		5	22	0	0	0	1	0	5	22					T	41003967	C	T	41003967	3	4	435	1	0	0	0	0	1	0	0	0	728	710	25	3	609	3	AOC3	17	41003967	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5880	41003967	40191243	7424	28349											
G6PC	2538	broad.mit.edu	37	chr17	41056010	41056010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgactactacagcaacacttCcgtgcccctgataaagcagt	12	9	7	13	1	0	2	0	2	0	0	1	2	1	2	3	0	6	2	3	0	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41056010C>T	ENST00000253801.2	+	2	372	c.293C>T	c.(292-294)tCc>tTc	p.S98F	G6PC_ENST00000592383.1_Missense_Mutation_p.S98F|G6PC_ENST00000585489.1_Missense_Mutation_p.S98F	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	98					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGCAACACTTCCGTGCCCCTG	0.493																																						ENST00000253801.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(292-294)tCc>tTc		glucose-6-phosphatase, catalytic subunit							165	140	149					17																	41056010		2203	4300	6503	SO:0001583	missense	2538				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41056010C>T	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"glycogen storage disease type I, von Gierke disease"	613742	"glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.293C>T	17.37:g.41056010C>T	ENSP00000253801:p.Ser98Phe					G6PC_ENST00000592383.1_Missense_Mutation_p.S98F|G6PC_ENST00000585489.1_Missense_Mutation_p.S98F	p.S98F	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	2	372	+		Breast(137;0.000143)	98					A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	c.293C>T	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356269	0.41700	.	.	ENSG00000131482	ENST00000253801	T	0.75367	-0.93	4.94	4.94	0.65067	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.261641	0.37136	N	0.002225	D	0.87083	0.6089	M	0.83603	2.65	0.34552	D	0.711404	D;D	0.76494	0.996;0.999	D;D	0.71414	0.93;0.973	D	0.91530	0.5241	10	0.62326	D	0.03	.	18.352	0.90342	0.0:1.0:0.0:0.0	.	100;98	E7ENG5;P35575	.;G6PC_HUMAN	F	98	ENSP00000253801:S98F	ENSP00000253801:S98F	S	+	2	0	G6PC	38309536	0.863000	0.29885	0.867000	0.34043	0.083000	0.17756	2.376000	0.44292	2.560000	0.86352	0.591000	0.81541	TCC		0.493	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		15	80	0	0	0	1	0	15	80					T	41056010	C	T	41056010	3	4	435	1	0	0	0	0	1	0	0	0	6143	855	30	3	299	3	G6PC	17	41056010	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	52043	41056010	40139200	7425	28350											
IFI35	3430	broad.mit.edu	37	chr17	41165610	41165610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttggcaagactaggaacGgaggtggcgatgtggacgtt	9	10	16	6	3	1	1	0	0	1	1	1	5	1	4	0	6	1	2	0	6	3	3	rs202144105	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41165610G>A	ENST00000415816.2	+	5	716	c.493G>A	c.(493-495)Gga>Aga	p.G165R	IFI35_ENST00000438323.2_Missense_Mutation_p.G167R	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	165					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GACTAGGAACGGAGGTGGCGA	0.597													G|||	11	0.00219649	0	0.0014	5008	,	,		21086	0.0069		0	False		,,,				2504	0.0031					ENST00000415816.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(493-495)Gga>Aga		interferon-induced protein 35		G	ARG/GLY	0,4406		0,0,2203	267	262	264		499	4.9	0.8	17		264	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IFI35	NM_005533.4	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	167/289	41165610	1,13005	2203	4300	6503	SO:0001583	missense	3430				response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding	g.chr17:41165610G>A	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.493G>A	17.37:g.41165610G>A	ENSP00000394579:p.Gly165Arg					IFI35_ENST00000438323.2_Missense_Mutation_p.G167R	p.G165R	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.157)	5	716	+		Breast(137;0.00499)	165					C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37	c.493G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.93	3.508816	0.64410	0.0	1.16E-4	ENSG00000068079	ENST00000415816;ENST00000438323	T;T	0.67345	-0.26;-0.26	4.93	4.93	0.64822	Nmi/IFP 35 (1);	0.186798	0.47852	D	0.000205	D	0.84451	0.5475	M	0.89840	3.065	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.87429	0.2387	10	0.72032	D	0.01	.	14.9937	0.71412	0.0:0.0:1.0:0.0	.	165	P80217	IN35_HUMAN	R	165;167	ENSP00000394579:G165R;ENSP00000395590:G167R	ENSP00000394579:G165R	G	+	1	0	IFI35	38419136	1.000000	0.71417	0.754000	0.31244	0.268000	0.26511	7.241000	0.78201	2.567000	0.86603	0.561000	0.74099	GGA		0.597	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533		72	88	0	0	0	1	0	72	88					A	41165610	G	A	41165610	3	1	435	1	0	0	0	0	1	0	0	0	7516	1117	39	2	517	2	IFI35	17	41165610	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	109600	41165610	40029600	7426	28351											
IFI35	3430	broad.mit.edu	37	chr17	41166147	41166147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtcgcagccagttccccGctcggtactggtgctcaaca	7	8	11	15	3	1	0	1	0	0	0	4	0	2	0	3	3	4	5	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41166147G>A	ENST00000415816.2	+	7	915	c.692G>A	c.(691-693)cGc>cAc	p.R231H	IFI35_ENST00000438323.2_Missense_Mutation_p.R233H	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	231					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CCAGTTCCCCGCTCGGTACTG	0.632																																						ENST00000415816.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(691-693)cGc>cAc		interferon-induced protein 35							75	77	76					17																	41166147		2203	4300	6503	SO:0001583	missense	3430				response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding	g.chr17:41166147G>A	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.692G>A	17.37:g.41166147G>A	ENSP00000394579:p.Arg231His					IFI35_ENST00000438323.2_Missense_Mutation_p.R233H	p.R231H	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.157)	7	915	+		Breast(137;0.00499)	231					C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37	c.692G>A		.	.	.	.	.	.	.	.	.	.	G	11.86	1.763797	0.31228	.	.	ENSG00000068079	ENST00000415816;ENST00000438323	T;T	0.43688	0.94;0.94	5.7	-0.716	0.11212	Nmi/IFP 35 (1);	0.400909	0.24578	N	0.037329	T	0.24661	0.0598	L	0.27053	0.805	0.09310	N	1	B	0.26081	0.141	B	0.15484	0.013	T	0.13926	-1.0491	10	0.42905	T	0.14	-4.0751	9.6345	0.39800	0.5805:0.0:0.4195:0.0	.	231	P80217	IN35_HUMAN	H	231;233	ENSP00000394579:R231H;ENSP00000395590:R233H	ENSP00000394579:R231H	R	+	2	0	IFI35	38419673	0.008000	0.16893	0.000000	0.03702	0.025000	0.11179	1.834000	0.39171	-0.008000	0.14320	0.462000	0.41574	CGC		0.632	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533		30	58	0	0	0	1	0	30	58					A	41166147	G	A	41166147	3	1	435	1	0	0	0	0	1	0	0	0	7516	1087	38	1	724	1	IFI35	17	41166147	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	537	41166147	40029063	7427	28352											
VAT1	3430	broad.mit.edu	37	chr17	41168121	41168121	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccaggaggaccttgcccAcattcttcttctcctgcatc	8	11	7	15	0	3	0	0	0	3	0	5	3	3	2	4	2	3	1	4	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41168121A>G	ENST00000415816.2	+	0	1241				VAT1_ENST00000355653.3_Missense_Mutation_p.V380A|VAT1_ENST00000587173.1_Missense_Mutation_p.V312A|VAT1_ENST00000420567.3_Missense_Mutation_p.V246A	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35						cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GACCTTGCCCACATTCTTCTT	0.552																																						ENST00000355653.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						c.(1138-1140)gTg>gCg		vesicle amine transport 1							372	344	354					17																	41168121		2203	4300	6503	SO:0001628	intergenic_variant	10493					cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding	g.chr17:41168121A>G	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720		17.37:g.41168121A>G						VAT1_ENST00000420567.3_Missense_Mutation_p.V246A|VAT1_ENST00000587173.1_Missense_Mutation_p.V312A	p.V380A	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	6	1234	-		Breast(137;0.000717)	380					C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37	c.1139T>C		.	.	.	.	.	.	.	.	.	.	A	18.15	3.560644	0.65538	.	.	ENSG00000108828	ENST00000355653;ENST00000542468;ENST00000420567	T;T	0.12465	3.43;2.68	5.24	5.24	0.73138	.	0.125553	0.53938	D	0.000046	T	0.17152	0.0412	L	0.48260	1.515	0.43355	D	0.99542	P;B	0.48911	0.917;0.266	B;B	0.43575	0.424;0.24	T	0.01027	-1.1476	10	0.87932	D	0	-8.0376	15.1481	0.72674	1.0:0.0:0.0:0.0	.	312;380	B4DPX4;Q99536	.;VAT1_HUMAN	A	380;287;246	ENSP00000347872:V380A;ENSP00000408553:V246A	ENSP00000347872:V380A	V	-	2	0	VAT1	38421647	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.624000	0.74243	1.998000	0.58463	0.459000	0.35465	GTG		0.552	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533		79	147	0	0	0	1	0	79	147					G	41168121	A	G	41168121	1	3	435	0	1	0	0	0	0	0	0	0	17126	159	6	4		4	VAT1	17	41168121	IGR	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1974	41168121	40027089	7428	28353											
BRCA1	672	broad.mit.edu	37	chr17	41226394	41226394	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttccgtcaaatcgtgtggCccagactcttccagctgttg	6	13	10	12	2	2	1	1	0	1	1	5	1	4	1	3	1	1	3	3	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41226394C>T	ENST00000357654.3	-	14	4747	c.4629G>A	c.(4627-4629)ggG>ggA	p.G1543G	BRCA1_ENST00000493795.1_Silent_p.G1496G|BRCA1_ENST00000468300.1_Silent_p.G439G|BRCA1_ENST00000591534.1_Silent_p.G34G|BRCA1_ENST00000352993.3_Silent_p.G401G|BRCA1_ENST00000351666.3_Silent_p.G360G|BRCA1_ENST00000491747.2_Silent_p.G439G|BRCA1_ENST00000309486.4_Silent_p.G1247G|BRCA1_ENST00000471181.2_Silent_p.G1564G|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1543					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AATCGTGTGGCCCAGACTCTT	0.433			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 1			E		"breast, ovarian"	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(3739-3741)ggG>ggA	Homologous recombination	breast cancer 1, early onset							149	156	154					17																	41226394		2203	4300	6503	SO:0001819	synonymous_variant	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		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	g.chr17:41226394C>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4629G>A	17.37:g.41226394C>T		TCGA Ovarian(2;0.000030)				BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000493795.1_Silent_p.G1496G|BRCA1_ENST00000491747.2_Silent_p.G439G|BRCA1_ENST00000468300.1_Silent_p.G439G|BRCA1_ENST00000471181.2_Silent_p.G1564G|BRCA1_ENST00000357654.3_Silent_p.G1543G|BRCA1_ENST00000591534.1_Silent_p.G34G|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Silent_p.G360G|BRCA1_ENST00000352993.3_Silent_p.G401G|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Intron	p.G1247G	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	13	4768	-		Breast(137;0.000717)	1543					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	37	c.3741G>A	CCDS11453.1																																																																																				0.433	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		23	25	0	0	0	1	0	23	25					T	41226394	C	T	41226394	2	4	435	1	0	0	0	0	0	0	0	1	1498	726	26	3		3	BRCA1	17	41226394	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	58273	41226394	39968816	7429	28354											
BRCA1	672	broad.mit.edu	37	chr17	41244008	41244008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaagctctcctttctggacGcttttgctaaaaacagcaga	11	12	7	11	1	2	1	0	0	2	1	3	2	2	2	1	1	4	4	1	1	4	5	rs397509080		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41244008G>A	ENST00000357654.3	-	10	3658	c.3540C>T	c.(3538-3540)agC>agT	p.S1180S	BRCA1_ENST00000493795.1_Silent_p.S1133S|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000309486.4_Silent_p.S884S|BRCA1_ENST00000471181.2_Silent_p.S1180S|BRCA1_ENST00000346315.3_Silent_p.S1180S|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Silent_p.S1180S	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1180					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTTCTGGACGCTTTTGCTAA	0.438			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 1			E		"breast, ovarian"	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(2650-2652)agC>agT	Homologous recombination	breast cancer 1, early onset							85	79	81					17																	41244008		2203	4300	6503	SO:0001819	synonymous_variant	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		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	g.chr17:41244008G>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.3540C>T	17.37:g.41244008G>A		TCGA Ovarian(2;0.000030)				BRCA1_ENST00000346315.3_Silent_p.S1180S|BRCA1_ENST00000493795.1_Silent_p.S1133S|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000471181.2_Silent_p.S1180S|BRCA1_ENST00000357654.3_Silent_p.S1180S|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Silent_p.S1180S	p.S884S	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	3679	-		Breast(137;0.000717)	1180					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	37	c.2652C>T	CCDS11453.1																																																																																				0.438	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		7	36	0	0	0	1	0	7	36					A	41244008	G	A	41244008	2	1	435	1	0	0	0	0	0	0	0	1	1498	1078	38	1		1	BRCA1	17	41244008	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17614	41244008	39951202	7430	28355											
NBR1	4077	broad.mit.edu	37	chr17	41341626	41341626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagagaacaagtggttaacGaaacggttgagaagcttgaa	16	8	12	5	2	1	3	1	2	0	2	1	6	1	3	0	2	4	3	0	2	6	3	rs536512807		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41341626G>A	ENST00000422280.1	+	8	961	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	NBR1_ENST00000341165.6_Missense_Mutation_p.E168K|NBR1_ENST00000590996.1_Missense_Mutation_p.E168K|NBR1_ENST00000389312.4_Missense_Mutation_p.E168K|NBR1_ENST00000589872.1_Missense_Mutation_p.E168K|NBR1_ENST00000542611.1_Missense_Mutation_p.E147K	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	168					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.E168K(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGTGGTTAACGAAACGGTTGA	0.393																																						ENST00000422280.1																			1	Substitution - Missense(1)	p.E168K(1)	kidney(1)	NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(502-504)Gaa>Aaa		neighbor of BRCA1 gene 1							74	73	73					17																	41341626		1844	4091	5935	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41341626G>A	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.502G>A	17.37:g.41341626G>A	ENSP00000411250:p.Glu168Lys					NBR1_ENST00000341165.6_Missense_Mutation_p.E168K|NBR1_ENST00000590996.1_Missense_Mutation_p.E168K|NBR1_ENST00000589872.1_Missense_Mutation_p.E168K|NBR1_ENST00000542611.1_Missense_Mutation_p.E147K|NBR1_ENST00000389312.4_Missense_Mutation_p.E168K	p.E168K	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	8	961	+		Breast(137;0.00086)	168					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.502G>A	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	G	36	5.615451	0.96649	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.57752	1.06;0.38;1.06;1.02	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.73598	0.3607	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.996	T	0.71543	-0.4561	10	0.46703	T	0.11	-15.7257	20.206	0.98277	0.0:0.0:1.0:0.0	.	147;168;168	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	K	168;147;168;168;168	ENSP00000411250:E168K;ENSP00000437545:E147K;ENSP00000343479:E168K;ENSP00000373963:E168K	ENSP00000343479:E168K	E	+	1	0	NBR1	38595152	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.238000	0.89809	2.785000	0.95823	0.655000	0.94253	GAA		0.393	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		22	34	0	0	0	1	0	22	34					A	41341626	G	A	41341626	3	1	435	1	0	0	0	0	1	0	0	0	10200	1059	37	2	528	2	NBR1	17	41341626	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	97618	41341626	39853584	7431	28356											
NBR1	4077	broad.mit.edu	37	chr17	41345493	41345493	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccagccttggagggaacGtatacttcccattggcgtct	7	10	11	13	2	1	0	0	0	1	0	2	2	2	2	4	3	3	1	4	3	3	5	rs367563168		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41345493G>A	ENST00000422280.1	+	12	1821	c.1362G>A	c.(1360-1362)acG>acA	p.T454T	NBR1_ENST00000341165.6_Silent_p.T454T|NBR1_ENST00000590996.1_Silent_p.T454T|NBR1_ENST00000389312.4_Silent_p.T454T|NBR1_ENST00000589872.1_Silent_p.T454T|NBR1_ENST00000542611.1_Silent_p.T433T	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	454					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TGGAGGGAACGTATACTTCCC	0.532																																						ENST00000422280.1																			0				NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(1360-1362)acG>acA		neighbor of BRCA1 gene 1		G	,,	0,3810		0,0,1905	88	84	85		1362,1362,1362	-10.2	0.8	17		85	1,8221		0,1,4110	no	coding-synonymous,coding-synonymous,coding-synonymous	NBR1	NM_005899.3,NM_031858.2,NM_031862.2	,,	0,1,6015	AA,AG,GG		0.0122,0.0,0.0083	,,	454/967,454/967,454/967	41345493	1,12031	1905	4111	6016	SO:0001819	synonymous_variant	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41345493G>A	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.1362G>A	17.37:g.41345493G>A						NBR1_ENST00000341165.6_Silent_p.T454T|NBR1_ENST00000590996.1_Silent_p.T454T|NBR1_ENST00000589872.1_Silent_p.T454T|NBR1_ENST00000542611.1_Silent_p.T433T|NBR1_ENST00000389312.4_Silent_p.T454T	p.T454T	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	12	1821	+		Breast(137;0.00086)	454					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Silent	SNP	ENST00000422280.1	37	c.1362G>A	CCDS45694.1																																																																																				0.532	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		12	17	0	0	0	1	0	12	17					A	41345493	G	A	41345493	2	1	435	1	0	0	0	0	0	0	0	1	10200	1132	40	1		1	NBR1	17	41345493	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3867	41345493	39849717	7432	28357											
DHX8	1659	broad.mit.edu	37	chr17	41598905	41598905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgccgggcccaggacattCgcaagcagatgttaggcata	10	7	13	11	3	0	1	0	0	0	1	1	2	0	2	2	3	2	4	2	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41598905C>T	ENST00000262415.3	+	21	3307	c.3235C>T	c.(3235-3237)Cgc>Tgc	p.R1079C	DHX8_ENST00000540306.1_Missense_Mutation_p.R1079C	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1079					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCAGGACATTCGCAAGCAGAT	0.483																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(3235-3237)Cgc>Tgc		DEAH (Asp-Glu-Ala-His) box polypeptide 8							120	102	108					17																	41598905		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41598905C>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.3235C>T	17.37:g.41598905C>T	ENSP00000262415:p.Arg1079Cys					DHX8_ENST00000540306.1_Missense_Mutation_p.R1079C	p.R1079C	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	21	3307	+		Breast(137;0.00908)	1079						Missense_Mutation	SNP	ENST00000262415.3	37	c.3235C>T	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795428	0.90453	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.03212	4.01;4.01	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	H	0.99143	4.445	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61940	0.85;0.896	T	0.61955	-0.6956	10	0.87932	D	0	.	17.2943	0.87166	0.0:1.0:0.0:0.0	.	1079;1079	F5H658;Q14562	.;DHX8_HUMAN	C	1079	ENSP00000437886:R1079C;ENSP00000262415:R1079C	ENSP00000262415:R1079C	R	+	1	0	DHX8	38954431	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.810000	0.69179	2.545000	0.85829	0.655000	0.94253	CGC		0.483	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			23	46	0	0	0	1	0	23	46					T	41598905	C	T	41598905	3	4	435	1	0	0	0	0	1	0	0	0	4515	884	31	2	3317	2	DHX8	17	41598905	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	253412	41598905	39596305	7433	28358											
ETV4	2118	broad.mit.edu	37	chr17	41610182	41610182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggtattcttgcttaaagCtctgctggggatagggtggg	7	13	15	6	0	2	0	0	0	2	0	2	1	2	1	0	5	3	4	0	5	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41610182C>T	ENST00000319349.5	-	8	969	c.671G>A	c.(670-672)aGc>aAc	p.S224N	ETV4_ENST00000538265.1_Missense_Mutation_p.S185N|ETV4_ENST00000545089.1_Missense_Mutation_p.S170N|ETV4_ENST00000393664.2_Missense_Mutation_p.S224N|ETV4_ENST00000586826.1_5'Flank|ETV4_ENST00000591713.1_Missense_Mutation_p.S224N|ETV4_ENST00000545954.1_Missense_Mutation_p.S185N	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	224	Gln-rich.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S224I(1)	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)		TTGCTTAAAGCTCTGCTGGGG	0.637			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	ENST00000319349.5				Dom	yes		17	17q21	2118	T	"ets variant gene 4 (E1A enhancer binding protein, E1AF)"			"M, E"	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"		"Ewing sarcoma, Prostate carcinoma"	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	1	Substitution - Missense(1)	p.S224I(1)	large_intestine(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(670-672)aGc>aAc		ets variant 4							46	51	49					17																	41610182		2202	4300	6502	SO:0001583	missense	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41610182C>T	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"E1A enhancer binding protein"	600711	"ets variant gene 4 (E1A enhancer-binding protein, E1AF)"			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.671G>A	17.37:g.41610182C>T	ENSP00000321835:p.Ser224Asn					ETV4_ENST00000393664.2_Missense_Mutation_p.S224N|ETV4_ENST00000545954.1_Missense_Mutation_p.S185N|ETV4_ENST00000591713.1_Missense_Mutation_p.S224N|ETV4_ENST00000545089.1_Missense_Mutation_p.S170N|ETV4_ENST00000538265.1_Missense_Mutation_p.S185N	p.S224N	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	8	969	-		Breast(137;0.00908)	224			Gln-rich.		A8K314|B7Z5J3|B7Z9J6|Q96AW9	Missense_Mutation	SNP	ENST00000319349.5	37	c.671G>A	CCDS11465.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542906	0.45280	.	.	ENSG00000175832	ENST00000319349;ENST00000393664;ENST00000538265;ENST00000545954;ENST00000545089	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.69	1.06	0.20224	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.371953	0.30547	N	0.009387	T	0.16257	0.0391	L	0.31926	0.97	0.25885	N	0.983542	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.16276	-1.0408	10	0.34782	T	0.22	.	8.0476	0.30559	0.0:0.6871:0.1144:0.1985	.	170;185;224	B7Z5F4;B7Z5J3;P43268	.;.;ETV4_HUMAN	N	224;224;185;185;170	ENSP00000321835:S224N;ENSP00000377273:S224N;ENSP00000443846:S185N;ENSP00000440023:S185N;ENSP00000441749:S170N	ENSP00000321835:S224N	S	-	2	0	ETV4	38965708	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.477000	0.35431	0.735000	0.32537	0.549000	0.68633	AGC		0.637	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		15	27	0	0	0	1	0	15	27					T	41610182	C	T	41610182	3	4	435	1	0	0	0	0	1	0	0	0	5281	797	28	3	807	3	ETV4	17	41610182	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11277	41610182	39585028	7434	28359											
SOST	50964	broad.mit.edu	37	chr17	41835926	41835926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggggaggccgccctcCgttctccgcccggttcatgg	2	9	16	14	4	2	0	1	0	1	0	4	1	3	1	5	6	0	2	5	6	0	2	rs372515234		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41835926C>T	ENST00000301691.2	-	1	230	c.184G>A	c.(184-186)Gga>Aga	p.G62R		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	62					cellular response to parathyroid hormone stimulus (GO:0071374)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|response to mechanical stimulus (GO:0009612)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		GGCCGCCCTCCGTTCTCCGCC	0.547																																						ENST00000301691.2																			0				large_intestine(2)|lung(3)|prostate(1)	6						c.(184-186)Gga>Aga		sclerostin		C	ARG/GLY	0,4406		0,0,2203	44	42	43		184	4.1	1	17		43	1,8599	1.2+/-3.3	0,1,4299	no	missense	SOST	NM_025237.2	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	62/214	41835926	1,13005	2203	4300	6503	SO:0001583	missense	50964				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	g.chr17:41835926C>T	AF326736	CCDS11468.1	17q12-q21	2014-06-28	2010-04-28			ENSG00000167941			13771	protein-coding gene	gene with protein product		605740	"sclerosteosis"			11179006, 11181578	Standard	NM_025237		Approved	VBCH	uc002iec.1	Q9BQB4		ENST00000301691.2:c.184G>A	17.37:g.41835926C>T	ENSP00000301691:p.Gly62Arg						p.G62R	NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)	1	230	-		Breast(137;0.00725)	62					Q495N9	Missense_Mutation	SNP	ENST00000301691.2	37	c.184G>A	CCDS11468.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394568	0.83011	0.0	1.16E-4	ENSG00000167941	ENST00000301691	D	0.86366	-2.11	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	D	0.92130	0.7505	M	0.67397	2.05	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.93104	0.6511	10	0.87932	D	0	-5.1969	14.6195	0.68574	0.0:1.0:0.0:0.0	.	62	Q9BQB4	SOST_HUMAN	R	62	ENSP00000301691:G62R	ENSP00000301691:G62R	G	-	1	0	SOST	39191452	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.527000	0.73803	2.103000	0.63969	0.555000	0.69702	GGA		0.547	SOST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453502.1	NM_025237		15	23	0	0	0	1	0	15	23					T	41835926	C	T	41835926	3	4	435	1	0	0	0	0	1	0	0	0	14938	661	23	2	465	2	SOST	17	41835926	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	225744	41835926	39359284	7435	28360											
MPP3	4356	broad.mit.edu	37	chr17	41908673	41908673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactttgcctttcataatagCgaagcttctcatgaatctgc	10	14	7	10	1	3	1	2	1	2	0	4	3	3	1	1	0	4	1	1	0	4	5	rs377594261		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41908673C>T	ENST00000398389.4	-	5	326	c.161G>A	c.(160-162)cGc>cAc	p.R54H	MPP3_ENST00000398393.1_Missense_Mutation_p.R79H	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	54	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TTCATAATAGCGAAGCTTCTC	0.552																																						ENST00000398393.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(235-237)cGc>cAc		membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)		C	HIS/ARG	0,4080		0,0,2040	79	88	85		161	3.9	1	17		85	1,8387		0,1,4193	no	missense	MPP3	NM_001932.4	29	0,1,6233	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	54/586	41908673	1,12467	2040	4194	6234	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41908673C>T		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 3", "discs, large (Drosophila) homolog 3", "membrane protein palmitoylated 3"	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.161G>A	17.37:g.41908673C>T	ENSP00000381425:p.Arg54His					MPP3_ENST00000398389.4_Missense_Mutation_p.R54H	p.R79H			Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	3	496	-		Breast(137;0.00394)	54			L27 2.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.236G>A	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307204	0.40795	0.0	1.19E-4	ENSG00000161647	ENST00000398393;ENST00000398389;ENST00000356492	T;T	0.15718	2.4;2.4	4.89	3.92	0.45320	L27, C-terminal (1);L27 (2);	0.055892	0.64402	D	0.000001	T	0.21103	0.0508	L	0.31664	0.95	0.46241	D	0.998941	D;B;P	0.71674	0.998;0.208;0.53	P;B;B	0.58577	0.841;0.177;0.177	T	0.03000	-1.1084	10	0.15499	T	0.54	.	11.877	0.52552	0.0:0.9191:0.0:0.0809	.	79;54;79	B4DS20;Q13368;D3DX46	.;MPP3_HUMAN;.	H	79;54;79	ENSP00000381430:R79H;ENSP00000381425:R54H	ENSP00000348885:R79H	R	-	2	0	MPP3	39264199	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.316000	0.51960	1.435000	0.47434	0.655000	0.94253	CGC		0.552	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		6	32	0	0	0	1	0	6	32					T	41908673	C	T	41908673	3	4	435	1	0	0	0	0	1	0	0	0	9735	768	27	1	1660	1	MPP3	17	41908673	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	72747	41908673	39286537	7436	28361											
PYY	5697	broad.mit.edu	37	chr17	42030704	42030704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtagtggcgcagggaggCgtagtagcggttcagctcct	7	8	18	8	3	1	0	1	0	0	0	2	2	2	1	1	5	2	6	1	5	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42030704C>T	ENST00000360085.2	-	5	688	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	PYY_ENST00000592796.1_Missense_Mutation_p.A50T	NM_004160.4	NP_004151	P10082	PYY_HUMAN	peptide YY	50					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|digestion (GO:0007586)|eating behavior (GO:0042755)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(1)|ovary(1)	2		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CGCAGGGAGGCGTAGTAGCGG	0.721																																						ENST00000360085.2																			0				endometrium(1)|ovary(1)	2						c.(148-150)Gcc>Acc		peptide YY							19	20	20					17																	42030704		2202	4297	6499	SO:0001583	missense	5697				cell proliferation|cell-cell signaling|cellular component movement|cytoskeleton organization|digestion|G-protein coupled receptor protein signaling pathway	soluble fraction		g.chr17:42030704C>T		CCDS32662.1	17q21.1	2013-02-28				ENSG00000131096		"Endogenous ligands"	9748	protein-coding gene	gene with protein product	"prepro-PYY"	600781				7782089	Standard	NM_004160		Approved	PYY1	uc002ieq.3	P10082		ENST00000360085.2:c.148G>A	17.37:g.42030704C>T	ENSP00000353198:p.Ala50Thr					PYY_ENST00000592796.1_Missense_Mutation_p.A50T	p.A50T	NM_004160.4	NP_004151.3	P10082	PYY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	5	688	-		Breast(137;0.00314)|Prostate(33;0.0724)	50					Q5U5Q6|Q6FGH8	Missense_Mutation	SNP	ENST00000360085.2	37	c.148G>A	CCDS32662.1	.	.	.	.	.	.	.	.	.	.	.	13.50	2.257006	0.39896	.	.	ENSG00000131096	ENST00000360085	T	0.47528	0.84	4.64	-0.0658	0.13767	Pancreatic hormone-like, conserved site (1);	.	.	.	.	T	0.26448	0.0646	.	.	.	0.32203	N	0.577528	B	0.18863	0.031	B	0.15870	0.014	T	0.26710	-1.0095	8	0.21014	T	0.42	-0.5024	4.2504	0.10691	0.0:0.5133:0.1665:0.3203	.	50	P10082	PYY_HUMAN	T	50	ENSP00000353198:A50T	ENSP00000353198:A50T	A	-	1	0	PYY	39386230	0.998000	0.40836	0.983000	0.44433	0.772000	0.43724	0.474000	0.22148	-0.262000	0.09392	-0.390000	0.06520	GCC		0.721	PYY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000457658.1	NM_004160		6	13	0	0	0	1	0	6	13					T	42030704	C	T	42030704	3	4	435	1	0	0	0	0	1	0	0	0	12868	768	27	1	157	1	PYY	17	42030704	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	122031	42030704	39164506	7437	28362											
G6PC3	92579	broad.mit.edu	37	chr17	42151578	42151578	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtccatgagtctggttactAcagccaggctccagcccagg	8	8	12	13	0	1	1	0	1	1	0	3	1	3	1	4	4	4	2	4	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42151578A>G	ENST00000269097.4	+	2	500	c.269A>G	c.(268-270)tAc>tGc	p.Y90C		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	90					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCTGGTTACTACAGCCAGGCT	0.522																																						ENST00000269097.4																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.(268-270)tAc>tGc		glucose 6 phosphatase, catalytic, 3							231	221	224					17																	42151578		2203	4300	6503	SO:0001583	missense	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42151578A>G	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.269A>G	17.37:g.42151578A>G	ENSP00000269097:p.Tyr90Cys						p.Y90C	NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	2	500	+		Breast(137;0.00637)|Prostate(33;0.0313)	90					Q8WU15	Missense_Mutation	SNP	ENST00000269097.4	37	c.269A>G	CCDS11476.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196372	0.58126	.	.	ENSG00000141349	ENST00000269097	T	0.75154	-0.91	5.1	4.0	0.46444	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.355288	0.29767	N	0.011259	T	0.79281	0.4419	M	0.72894	2.215	0.29483	N	0.856181	D	0.56968	0.978	P	0.54499	0.754	T	0.75682	-0.3233	10	0.62326	D	0.03	-47.5375	9.3751	0.38278	0.6328:0.3671:0.0:0.0	.	90	Q9BUM1	G6PC3_HUMAN	C	90	ENSP00000269097:Y90C	ENSP00000269097:Y90C	Y	+	2	0	G6PC3	39507104	0.997000	0.39634	0.998000	0.56505	0.992000	0.81027	2.223000	0.42936	0.765000	0.33221	0.459000	0.35465	TAC		0.522	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		4	175	0	0	0	1	0	4	175					G	42151578	A	G	42151578	3	3	435	1	0	0	0	0	1	0	0	0	6145	391	14	4	275	4	G6PC3	17	42151578	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	120874	42151578	39043632	7438	28363											
HDAC5	10014	broad.mit.edu	37	chr17	42170972	42170972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctgcagctggacctcatGctgccttgtcaggtggtcat	5	13	11	12	0	4	0	3	0	1	0	4	1	4	1	2	3	4	3	2	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42170972G>A	ENST00000393622.2	-	4	656	c.325C>T	c.(325-327)Cat>Tat	p.H109Y	HDAC5_ENST00000336057.5_Missense_Mutation_p.H109Y|HDAC5_ENST00000225983.6_Missense_Mutation_p.H110Y|HDAC5_ENST00000586802.1_Missense_Mutation_p.H109Y	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	109					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			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)		TGGACCTCATGCTGCCTTGTC	0.652																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(328-330)Cat>Tat		histone deacetylase 5							24	23	23					17																	42170972		2197	4283	6480	SO:0001583	missense	10014				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	g.chr17:42170972G>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.325C>T	17.37:g.42170972G>A	ENSP00000377244:p.His109Tyr					HDAC5_ENST00000393622.2_Missense_Mutation_p.H109Y|HDAC5_ENST00000336057.5_Missense_Mutation_p.H109Y|HDAC5_ENST00000586802.1_Missense_Mutation_p.H109Y	p.H110Y			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	4	651	-		Breast(137;0.00637)|Prostate(33;0.0313)	109					C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.328C>T	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147139	0.77888	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.05382	3.45;3.45;3.45	4.31	4.31	0.51392	Histone deacetylase, glutamine rich N-terminal domain (1);	0.000000	0.64402	D	0.000003	T	0.18718	0.0449	M	0.84433	2.695	0.58432	D	0.999997	P;P;P;P	0.48162	0.886;0.906;0.807;0.839	B;P;B;B	0.48400	0.265;0.576;0.265;0.383	T	0.06197	-1.0840	10	0.87932	D	0	-10.0268	15.5412	0.76048	0.0:0.0:1.0:0.0	.	109;109;110;109	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	Y	110;109;109	ENSP00000225983:H110Y;ENSP00000377244:H109Y;ENSP00000337290:H109Y	ENSP00000225983:H110Y	H	-	1	0	HDAC5	39526498	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	9.366000	0.97143	1.946000	0.56461	0.462000	0.41574	CAT		0.652	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		9	24	0	0	0	1	0	9	24					A	42170972	G	A	42170972	3	1	435	1	0	0	0	0	1	0	0	0	7010	1319	46	3	3139	3	HDAC5	17	42170972	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19394	42170972	39024238	7439	28364											
C17orf53	78995	broad.mit.edu	37	chr17	42226031	42226031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctccaagctgctagagggaCcattcagagcagccctcaaa	12	7	9	13	0	3	2	2	0	1	2	4	3	3	3	3	1	4	3	3	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42226031C>T	ENST00000319977.4	+	3	1097	c.860C>T	c.(859-861)aCc>aTc	p.T287I	C17orf53_ENST00000245382.6_Missense_Mutation_p.T287I|C17orf53_ENST00000585683.1_Missense_Mutation_p.T287I	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	287										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCTAGAGGGACCATTCAGAGC	0.532																																						ENST00000319977.4																			0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(859-861)aCc>aTc		chromosome 17 open reading frame 53							145	139	141					17																	42226031		2203	4300	6503	SO:0001583	missense	78995							g.chr17:42226031C>T	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.860C>T	17.37:g.42226031C>T	ENSP00000313500:p.Thr287Ile					C17orf53_ENST00000585683.1_Missense_Mutation_p.T287I|C17orf53_ENST00000245382.6_Missense_Mutation_p.T287I	p.T287I	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	1097	+		Breast(137;0.0364)|Prostate(33;0.0376)	287					A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	c.860C>T	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810054	0.32053	.	.	ENSG00000125319	ENST00000319977;ENST00000245382	T;T	0.47528	0.85;0.84	4.79	2.65	0.31530	.	0.921495	0.09115	N	0.846598	T	0.32406	0.0828	L	0.34521	1.04	0.09310	N	1	P;B;P	0.37276	0.589;0.131;0.589	B;B;B	0.35813	0.211;0.06;0.211	T	0.13899	-1.0492	10	0.21014	T	0.42	0.2991	5.4818	0.16727	0.2565:0.6404:0.0:0.1031	.	287;287;287	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	I	287	ENSP00000313500:T287I;ENSP00000245382:T287I	ENSP00000245382:T287I	T	+	2	0	C17orf53	39581557	0.000000	0.05858	0.001000	0.08648	0.178000	0.23041	0.318000	0.19504	1.252000	0.44001	0.555000	0.69702	ACC		0.532	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		49	61	0	0	0	1	0	49	61					T	42226031	C	T	42226031	3	4	435	1	0	0	0	0	1	0	0	0	1862	507	18	3	870	3	C17orf53	17	42226031	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	55059	42226031	38969179	7440	28365											
ASB16	92591	broad.mit.edu	37	chr17	42248207	42248207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgctgcgctctctccGcctgcagcaggagtggctgg	4	9	13	15	2	1	0	0	0	1	0	4	1	3	1	3	3	4	5	3	3	0	0	rs144140141		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42248207G>A	ENST00000293414.1	+	1	134	c.50G>A	c.(49-51)cGc>cAc	p.R17H		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	17					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CGCTCTCTCCGCCTGCAGCAG	0.697																																						ENST00000293414.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14						c.(49-51)cGc>cAc		ankyrin repeat and SOCS box containing 16		G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	33	32	32		50	4.3	1	17	dbSNP_134	32	0,8600		0,0,4300	no	missense	ASB16	NM_080863.4	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	17/454	42248207	3,13003	2203	4300	6503	SO:0001583	missense	92591				intracellular signal transduction		protein binding	g.chr17:42248207G>A	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"Ankyrin repeat domain containing"	19768	protein-coding gene	gene with protein product		615056	"ankyrin repeat and SOCS box-containing 16"			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.50G>A	17.37:g.42248207G>A	ENSP00000293414:p.Arg17His						p.R17H	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	1	134	+		Breast(137;0.00765)|Prostate(33;0.0313)	17					B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	c.50G>A	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.291003	0.59976	6.81E-4	0.0	ENSG00000161664	ENST00000293414	T	0.67523	-0.27	5.26	4.29	0.51040	.	0.048787	0.85682	D	0.000000	T	0.38480	0.1042	N	0.08118	0	0.51233	D	0.999917	P	0.38788	0.647	B	0.23275	0.045	T	0.47341	-0.9125	10	0.72032	D	0.01	-23.7035	9.5022	0.39024	0.1632:0.0:0.8368:0.0	.	17	Q96NS5	ASB16_HUMAN	H	17	ENSP00000293414:R17H	ENSP00000293414:R17H	R	+	2	0	ASB16	39603733	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.586000	0.60984	1.450000	0.47717	0.561000	0.74099	CGC		0.697	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			15	17	0	0	0	1	0	15	17					A	42248207	G	A	42248207	3	1	435	1	0	0	0	0	1	0	0	0	1020	1087	38	1	52	1	ASB16	17	42248207	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22176	42248207	38947003	7441	28366											
SLC4A1	6521	broad.mit.edu	37	chr17	42335881	42335881	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagactgagcagtgcctgCtcggagggggcatcggtggg	7	6	18	10	2	0	2	0	1	0	1	2	3	0	3	2	5	3	3	2	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42335881C>T	ENST00000262418.6	-	10	1142	c.987G>A	c.(985-987)gaG>gaA	p.E329E	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	329	Dimerization arm.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCAGTGCCTGCTCGGAGGGGG	0.622																																						ENST00000262418.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(985-987)gaG>gaA		solute carrier family 4 (anion exchanger), member 1							65	66	65					17																	42335881		2203	4300	6503	SO:0001819	synonymous_variant	6521				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	g.chr17:42335881C>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.987G>A	17.37:g.42335881C>T						AC003043.1_ENST00000597382.1_Intron	p.E329E	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	10	1142	-		Breast(137;0.014)|Prostate(33;0.0181)	329					G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	c.987G>A	CCDS11481.1																																																																																				0.622	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		14	30	0	0	0	1	0	14	30					T	42335881	C	T	42335881	2	4	435	1	0	0	0	0	0	0	0	1	14650	796	28	3		3	SLC4A1	17	42335881	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	87674	42335881	38859329	7442	28367											
ITGA2B	3674	broad.mit.edu	37	chr17	42461310	42461310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgcccaaaatacgacGccatctgcaagatgaggagc	14	6	10	11	2	1	3	0	2	1	1	1	5	1	4	2	1	4	1	2	1	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42461310G>A	ENST00000262407.5	-	11	981	c.950C>T	c.(949-951)gCg>gTg	p.A317V	ITGA2B_ENST00000377068.3_Missense_Mutation_p.A2V|ITGA2B_ENST00000353281.4_Missense_Mutation_p.A317V	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	317					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	AAAATACGACGCCATCTGCAA	0.532																																						ENST00000262407.5																			0				biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(949-951)gCg>gTg		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						77	74	75					17																	42461310		2203	4300	6503	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42461310G>A		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.950C>T	17.37:g.42461310G>A	ENSP00000262407:p.Ala317Val					ITGA2B_ENST00000353281.4_Missense_Mutation_p.A317V|ITGA2B_ENST00000377068.3_Missense_Mutation_p.A2V	p.A317V	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	11	981	-		Prostate(33;0.0181)	317					B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.950C>T	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544070	0.86022	.	.	ENSG00000005961	ENST00000262407;ENST00000353281;ENST00000377068	T;T;T	0.72167	-0.63;-0.63;-0.63	5.23	5.23	0.72850	.	0.000000	0.34986	N	0.003525	D	0.84651	0.5519	M	0.77712	2.385	0.50813	D	0.999896	D	0.89917	1.0	D	0.91635	0.999	D	0.86687	0.1920	10	0.87932	D	0	.	17.5798	0.87963	0.0:0.0:1.0:0.0	.	317	P08514	ITA2B_HUMAN	V	317;317;2	ENSP00000262407:A317V;ENSP00000340536:A317V;ENSP00000366268:A2V	ENSP00000262407:A317V	A	-	2	0	ITGA2B	39816836	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.296000	0.59055	2.432000	0.82394	0.561000	0.74099	GCG		0.532	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			11	3	0	0	0	1	0	11	3					A	42461310	G	A	42461310	3	1	435	1	0	0	0	0	1	0	0	0	7876	1087	38	1	2249	1	ITGA2B	17	42461310	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	125429	42461310	38733900	7443	28368											
GPATCH8	23131	broad.mit.edu	37	chr17	42512492	42512492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacttctaggacacggcgccGttcggtagcatcttcagcat	8	11	10	12	4	3	0	1	0	2	0	4	1	3	1	1	3	3	4	1	3	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42512492G>A	ENST00000591680.1	-	5	319	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000434000.1_Missense_Mutation_p.R19W	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	97							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)		ACACGGCGCCGTTCGGTAGCA	0.383																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(55-57)Cgg>Tgg		G patch domain containing 8							149	127	134					17																	42512492		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42512492G>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.289C>T	17.37:g.42512492G>A	ENSP00000467556:p.Arg97Trp					GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000591680.1_Missense_Mutation_p.R97W	p.R19W			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	6	337	-		Prostate(33;0.0181)	97					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.55C>T	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631964	0.67015	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.13420	2.59	5.6	5.6	0.85130	.	0.163236	0.39083	N	0.001462	T	0.21427	0.0516	N	0.08118	0	0.47276	D	0.999375	D	0.89917	1.0	D	0.70935	0.971	T	0.32052	-0.9921	10	0.87932	D	0	-10.6715	19.6136	0.95619	0.0:0.0:1.0:0.0	.	97	Q9UKJ3	GPTC8_HUMAN	W	97;19	ENSP00000395016:R19W	ENSP00000335486:R97W	R	-	1	2	GPATCH8	39868018	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.556000	0.67307	2.641000	0.89580	0.585000	0.79938	CGG		0.383	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		41	49	0	0	0	1	0	41	49					A	42512492	G	A	42512492	3	1	435	1	0	0	0	0	1	0	0	0	6594	1144	40	1	4235	1	GPATCH8	17	42512492	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	51182	42512492	38682718	7444	28369											
FZD2	2535	broad.mit.edu	37	chr17	42636313	42636313	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggggcttcgtgctagcgccGctcttcgtgtacctgttcat	3	13	12	13	5	2	0	1	0	1	0	4	0	2	0	2	2	3	5	2	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42636313G>A	ENST00000315323.3	+	1	1389	c.1257G>A	c.(1255-1257)ccG>ccA	p.P419P		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	419					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			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)		TGCTAGCGCCGCTCTTCGTGT	0.652																																						ENST00000315323.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1255-1257)ccG>ccA		frizzled family receptor 2							89	86	87					17																	42636313		2203	4300	6503	SO:0001819	synonymous_variant	2535				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	g.chr17:42636313G>A	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1257G>A	17.37:g.42636313G>A							p.P419P	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1389	+		Prostate(33;0.0181)	419					Q0VG82	Silent	SNP	ENST00000315323.3	37	c.1257G>A	CCDS11484.1																																																																																				0.652	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		4	75	0	0	0	1	0	4	75					A	42636313	G	A	42636313	2	1	435	1	0	0	0	0	0	0	0	1	6130	1074	38	1		1	FZD2	17	42636313	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	123821	42636313	38558897	7445	28370											
C17orf104	284071	broad.mit.edu	37	chr17	42744798	42744798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaatagtcatttaagtgcaGcttcaaaaggttctaaccat	15	13	6	7	0	3	0	2	0	1	0	3	0	3	0	1	1	3	3	1	1	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42744798G>T	ENST00000409122.2	+	5	1661	c.1519G>T	c.(1519-1521)Gct>Tct	p.A507S	C17orf104_ENST00000359945.3_Missense_Mutation_p.A507S|C17orf104_ENST00000409464.1_Missense_Mutation_p.A341S	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	507										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TTTAAGTGCAGCTTCAAAAGG	0.333																																						ENST00000409122.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						c.(1519-1521)Gct>Tct		chromosome 17 open reading frame 104							49	52	51					17																	42744798		2203	4300	6503	SO:0001583	missense	284071							g.chr17:42744798G>T		CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.1519G>T	17.37:g.42744798G>T	ENSP00000386452:p.Ala507Ser					C17orf104_ENST00000359945.3_Missense_Mutation_p.A507S|C17orf104_ENST00000409464.1_Missense_Mutation_p.A341S	p.A507S	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN			5	1661	+			507					B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	ENST00000409122.2	37	c.1519G>T	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226699	0.39300	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000409464	T;T;T	0.33654	1.4;1.4;1.41	5.66	5.66	0.87406	.	0.290403	0.30732	N	0.008984	T	0.37073	0.0990	L	0.34521	1.04	0.26290	N	0.978133	D;D;D	0.62365	0.991;0.991;0.991	P;P;P	0.56751	0.805;0.805;0.805	T	0.25502	-1.0130	10	0.21014	T	0.42	-26.8423	7.8364	0.29371	0.0805:0.0:0.7149:0.2046	.	507;507;341	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	S	507;507;341	ENSP00000353028:A507S;ENSP00000386452:A507S;ENSP00000386586:A341S	ENSP00000353028:A507S	A	+	1	0	C17orf104	40100324	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.222000	0.42926	2.663000	0.90544	0.655000	0.94253	GCT		0.333	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080		17	23	1	0	2.35188e-11	1	2.53156e-11	17	23					T	42744798	G	T	42744798	3	4	435	1	0	0	0	0	1	0	0	0	1851	971	34	5	1537	5	C17orf104	17	42744798	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	108485	42744798	38450412	7446	28371											
EFTUD2	9343	broad.mit.edu	37	chr17	42929864	42929864	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccaaaagagtcgatggcCgggataaaagctttgatggt	14	8	13	6	2	0	2	0	1	0	1	1	4	0	3	2	3	2	1	2	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42929864C>T	ENST00000426333.2	-	26	2925	c.2628G>A	c.(2626-2628)ccG>ccA	p.P876P	EFTUD2_ENST00000402521.3_Silent_p.P841P|EFTUD2_ENST00000592576.1_Silent_p.P866P|EFTUD2_ENST00000591382.1_Silent_p.P876P	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	876					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AGTCGATGGCCGGGATAAAAG	0.532																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(2626-2628)ccG>ccA		elongation factor Tu GTP binding domain containing 2							98	84	89					17																	42929864		2203	4300	6503	SO:0001819	synonymous_variant	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42929864C>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2628G>A	17.37:g.42929864C>T						EFTUD2_ENST00000402521.3_Silent_p.P841P|EFTUD2_ENST00000591382.1_Silent_p.P876P|EFTUD2_ENST00000592576.1_Silent_p.P866P	p.P876P	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			26	2925	-		Prostate(33;0.109)	876					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Silent	SNP	ENST00000426333.2	37	c.2628G>A	CCDS11489.1																																																																																				0.532	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		17	16	0	0	0	1	0	17	16					T	42929864	C	T	42929864	2	4	435	1	0	0	0	0	0	0	0	1	4961	639	23	2		2	EFTUD2	17	42929864	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	185066	42929864	38265346	7447	28372											
CCDC103	388389	broad.mit.edu	37	chr17	42979959	42979959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcggtgctggggatcctatGcagcctggcgagcactgggc	6	7	17	11	2	0	0	0	0	0	0	1	2	1	1	2	5	5	3	2	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42979959G>A	ENST00000417826.2	+	4	598	c.503G>A	c.(502-504)tGc>tAc	p.C168Y	FAM187A_ENST00000331733.4_5'UTR|CCDC103_ENST00000410006.2_Missense_Mutation_p.C168Y|AC015936.3_ENST00000441312.1_RNA|EFTUD2_ENST00000426333.2_5'Flank|FAM187A_ENST00000412523.2_Intron	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	168					axonemal dynein complex assembly (GO:0070286)|cell projection organization (GO:0030030)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|outer dynein arm assembly (GO:0036158)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				GGGATCCTATGCAGCCTGGCG	0.617																																						ENST00000417826.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7						c.(502-504)tGc>tAc		coiled-coil domain containing 103							49	55	53					17																	42979959		2203	4300	6503	SO:0001583	missense	388389							g.chr17:42979959G>A	AK023156	CCDS11490.1, CCDS58554.1	17q21.31	2013-02-22			ENSG00000167131	ENSG00000167131			32700	protein-coding gene	gene with protein product		614677				22581229	Standard	NM_213607		Approved	FLJ13094, FLJ34211, PR46b, CILD17	uc031ray.1	Q8IW40	OTTHUMG00000154264	ENST00000417826.2:c.503G>A	17.37:g.42979959G>A	ENSP00000391692:p.Cys168Tyr					CCDC103_ENST00000410006.2_Missense_Mutation_p.C168Y|FAM187A_ENST00000331733.4_5'UTR|FAM187A_ENST00000412523.2_Intron	p.C168Y	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN			4	598	+		Prostate(33;0.109)	168					A8K145|B8ZZU0	Missense_Mutation	SNP	ENST00000417826.2	37	c.503G>A	CCDS11490.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.490998	0.01009	.	.	ENSG00000167131	ENST00000357776;ENST00000417826;ENST00000410006	T;T;T	0.54279	0.58;0.58;0.58	6.16	-5.86	0.02304	.	1.037320	0.07712	U	0.942173	T	0.21674	0.0522	N	0.03608	-0.345	0.09310	N	1	B	0.15141	0.012	B	0.22152	0.038	T	0.41822	-0.9487	10	0.02654	T	1	-1.4044	9.8316	0.40946	0.6819:0.0:0.2205:0.0976	.	168	Q8IW40	CC103_HUMAN	Y	168	ENSP00000350420:C168Y;ENSP00000391692:C168Y;ENSP00000387252:C168Y	ENSP00000350420:C168Y	C	+	2	0	CCDC103	40335485	0.000000	0.05858	0.199000	0.23439	0.223000	0.24884	-0.912000	0.04046	-0.857000	0.04115	-0.157000	0.13467	TGC		0.617	CCDC103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334578.1	NM_213607		16	35	0	0	0	1	0	16	35					A	42979959	G	A	42979959	3	1	435	1	0	0	0	0	1	0	0	0	2738	1319	46	3	513	3	CCDC103	17	42979959	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	50095	42979959	38215251	7448	28373											
KIF18B	146909	broad.mit.edu	37	chr17	43006261	43006261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaaggcctctgccccaGgctcaattttttcctcttgc	5	14	6	16	0	4	0	2	0	2	0	6	0	6	0	5	2	2	1	5	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:43006261G>T	ENST00000593135.1	-	12	1746	c.1649C>A	c.(1648-1650)cCt>cAt	p.P550H	KIF18B_ENST00000339151.4_Missense_Mutation_p.P562H|KIF18B_ENST00000438933.2_Missense_Mutation_p.P562H|KIF18B_ENST00000587309.1_Missense_Mutation_p.P562H|KIF18B_ENST00000590129.1_Missense_Mutation_p.P571H	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	571					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CTCTGCCCCAGGCTCAATTTT	0.592																																						ENST00000587309.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(1684-1686)cCt>cAt		kinesin family member 18B							63	63	63					17																	43006261		1979	4168	6147	SO:0001583	missense	146909							g.chr17:43006261G>T		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1649C>A	17.37:g.43006261G>T	ENSP00000465992:p.Pro550His					KIF18B_ENST00000438933.2_Missense_Mutation_p.P562H|KIF18B_ENST00000593135.1_Missense_Mutation_p.P550H|KIF18B_ENST00000590129.1_Missense_Mutation_p.P571H|KIF18B_ENST00000339151.4_Missense_Mutation_p.P562H	p.P562H	NM_001264573.1	NP_001251503.1					12	1708	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.1685C>A	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	G	8.887	0.953009	0.18431	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.62788	-0.0;-0.0	4.8	2.76	0.32466	.	.	.	.	.	T	0.49830	0.1580	L	0.40543	1.245	0.09310	N	1	B;B;B	0.15473	0.002;0.013;0.003	B;B;B	0.18561	0.004;0.022;0.01	T	0.43653	-0.9378	9	0.51188	T	0.08	.	5.6872	0.17809	0.1003:0.0:0.7004:0.1994	.	571;559;571	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	H	562	ENSP00000412798:P562H;ENSP00000341466:P562H	ENSP00000341466:P562H	P	-	2	0	KIF18B	40361787	0.014000	0.17966	0.007000	0.13788	0.021000	0.10359	1.955000	0.40372	0.573000	0.29400	-0.254000	0.11334	CCT		0.592	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		4	17	1	0	0.150653	1	0.151081	4	17					T	43006261	G	T	43006261	3	4	435	1	0	0	0	0	1	0	0	0	8281	1000	35	5	901	5	KIF18B	17	43006261	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26302	43006261	38188949	7449	28374											
NMT1	4836	broad.mit.edu	37	chr17	43180471	43180471	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacccccaggagaatatcatCgacactttcgtggtggaggt	10	10	11	10	2	1	1	1	0	0	1	3	4	1	2	2	4	1	0	2	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:43180471C>T	ENST00000592782.1	+	10	1277	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	NMT1_ENST00000258960.2_Silent_p.I382I			P30419	NMT1_HUMAN	N-myristoyltransferase 1	382					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				AGAATATCATCGACACTTTCG	0.582																																						ENST00000592782.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8						c.(1144-1146)atC>atT		N-myristoyltransferase 1							130	123	125					17																	43180471		2203	4300	6503	SO:0001819	synonymous_variant	4836				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	g.chr17:43180471C>T		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"alternative, short form NMT-S", "myristoyl-CoA:protein N-myristoyltransferase", "long form, NMT-L"	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.1146C>T	17.37:g.43180471C>T						NMT1_ENST00000258960.2_Silent_p.I382I	p.I382I			P30419	NMT1_HUMAN			10	1277	+		Prostate(33;0.155)	382					A8K7C1|Q9UE09	Silent	SNP	ENST00000592782.1	37	c.1146C>T	CCDS11494.1																																																																																				0.582	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		11	35	0	0	0	1	0	11	35					T	43180471	C	T	43180471	2	4	435	1	0	0	0	0	0	0	0	1	10503	874	31	2		2	NMT1	17	43180471	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	174210	43180471	38014739	7450	28375											
C17orf46	124783	broad.mit.edu	37	chr17	43333080	43333080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcttgtttgcccagaagaGgtgcttggaggtctgcgcac	7	10	15	9	1	1	2	0	0	1	2	1	4	1	3	1	3	4	4	1	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:43333080G>T	ENST00000331780.4	-	4	564	c.469C>A	c.(469-471)Ctc>Atc	p.L157I	MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|SPATA32_ENST00000543122.1_Missense_Mutation_p.L136I	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	157					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											GCCCAGAAGAGGTGCTTGGAG	0.577																																						ENST00000543122.1																			0											c.(406-408)Ctc>Atc		spermatogenesis associated 32							111	94	100					17																	43333080		2203	4300	6503	SO:0001583	missense	124783							g.chr17:43333080G>T	AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"acrosome expressed 2"		"chromosome 17 open reading frame 46", "testis expressed 34"	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.469C>A	17.37:g.43333080G>T	ENSP00000331532:p.Leu157Ile					MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000331780.4_Missense_Mutation_p.L157I|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA	p.L136I							6	1187	-								Q7Z4U1|Q8N6V6	Missense_Mutation	SNP	ENST00000331780.4	37	c.406C>A	CCDS32669.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781482	0.70222	.	.	ENSG00000184361	ENST00000331780;ENST00000543122	T;T	0.63417	-0.04;-0.04	4.23	3.24	0.37175	.	0.000000	0.37761	N	0.001941	T	0.65678	0.2714	L	0.36672	1.1	0.29901	N	0.824436	D	0.76494	0.999	D	0.67725	0.953	T	0.63102	-0.6712	10	0.87932	D	0	-9.1226	8.1744	0.31272	0.1108:0.0:0.8892:0.0	.	157	Q96LK8	CQ046_HUMAN	I	157;136	ENSP00000331532:L157I;ENSP00000442724:L136I	ENSP00000331532:L157I	L	-	1	0	C17orf46	40688863	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.409000	0.34680	0.997000	0.38969	0.561000	0.74099	CTC		0.577	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1	NM_152343		6	60	1	0	3.59834e-05	1	3.7043e-05	6	60					T	43333080	G	T	43333080	3	4	435	1	0	0	0	0	1	0	0	0	1857	1000	35	5	693	5	C17orf46	17	43333080	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	152609	43333080	37862130	7451	28376											
PLEKHM1	9842	broad.mit.edu	37	chr17	43531226	43531226	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgccctggagggccgcGggctccgagagcaggtctga	5	7	18	11	3	1	2	0	1	1	1	2	4	2	3	3	4	2	2	3	4	0	0	rs369056286		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:43531226G>A	ENST00000430334.3	-	7	2125	c.1992C>T	c.(1990-1992)ccC>ccT	p.P664P	PLEKHM1_ENST00000421073.2_Silent_p.P575P|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	664					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			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)					GGAGGGCCGCGGGCTCCGAGA	0.637																																						ENST00000430334.3																			0				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						c.(1990-1992)ccC>ccT		pleckstrin homology domain containing, family M (with RUN domain) member 1							38	44	42					17																	43531226		2202	4298	6500	SO:0001819	synonymous_variant	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43531226G>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1992C>T	17.37:g.43531226G>A						AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.P575P	p.P664P	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN			7	2125	-	Renal(3;0.0405)		664					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	37	c.1992C>T	CCDS32671.1																																																																																				0.637	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		9	39	0	0	0	1	0	9	39					A	43531226	G	A	43531226	2	1	435	1	0	0	0	0	0	0	0	1	12080	1103	39	2		2	PLEKHM1	17	43531226	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	198146	43531226	37663984	7452	28377											
CRHR1	1394	broad.mit.edu	37	chr17	43907851	43907851	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttcttctggatgttcggCgagggctgctacctgcacac	7	11	11	12	2	2	0	0	0	2	0	3	2	2	1	1	3	4	4	1	3	2	4	rs368177064		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:43907851C>T	ENST00000398285.3	+	8	711	c.711C>T	c.(709-711)ggC>ggT	p.G237G	CRHR1_ENST00000314537.5_Silent_p.G208G|CRHR1_ENST00000352855.5_Silent_p.G168G|CRHR1_ENST00000339069.5_Silent_p.G107G|CRHR1_ENST00000293493.7_Silent_p.G33G|CRHR1_ENST00000577353.1_Silent_p.G208G	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	237					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GGATGTTCGGCGAGGGCTGCT	0.587																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(622-624)ggC>ggT		corticotropin releasing hormone receptor 1							93	96	95					17																	43907851		2203	4300	6503	SO:0001819	synonymous_variant	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43907851C>T	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"GPCR / Class B : Corticotropin-releasing factor receptors"	2357	protein-coding gene	gene with protein product	"corticotropin-releasing factor receptor"	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.711C>T	17.37:g.43907851C>T						CRHR1_ENST00000398285.3_Silent_p.G237G|CRHR1_ENST00000577353.1_Silent_p.G208G|CRHR1_ENST00000293493.7_Silent_p.G33G|CRHR1_ENST00000352855.5_Silent_p.G168G|CRHR1_ENST00000339069.5_Silent_p.G107G	p.G208G	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	7	849	+	Colorectal(2;0.0416)		237					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Silent	SNP	ENST00000398285.3	37	c.624C>T	CCDS45712.1																																																																																				0.587	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			34	47	0	0	0	1	0	34	47					T	43907851	C	T	43907851	2	4	435	1	0	0	0	0	0	0	0	1	3871	755	27	1		1	CRHR1	17	43907851	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	376625	43907851	37287359	7453	28378											
IMP5	162540	broad.mit.edu	37	chr17	43922915	43922915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgaagccaaccggctacagCggcgccgtgcccgaagagga	10	2	14	15	6	0	1	0	0	0	1	0	4	0	2	5	3	5	1	5	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:43922915C>T	ENST00000329196.5	+	1	660	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	215						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										CCGGCTACAGCGGCGCCGTGC	0.622																																						ENST00000329196.5																			0											c.(643-645)Cgg>Tgg		signal peptide peptidase like 2C							43	40	41					17																	43922915		2203	4300	6503	SO:0001583	missense	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43922915C>T		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"intramembrane protease 5"	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.643C>T	17.37:g.43922915C>T	ENSP00000332488:p.Arg215Trp					MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	p.R215W	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN			1	660	+			215					Q8TC67|Q8WVZ6	Missense_Mutation	SNP	ENST00000329196.5	37	c.643C>T	CCDS32673.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105373	0.37145	.	.	ENSG00000185294	ENST00000329196	T	0.05649	3.41	5.03	2.91	0.33838	.	0.000000	0.37577	N	0.002028	T	0.17831	0.0428	M	0.68317	2.08	0.38244	D	0.941403	D	0.76494	0.999	D	0.68765	0.96	T	0.01162	-1.1432	10	0.66056	D	0.02	-14.7329	7.5431	0.27751	0.197:0.6274:0.1756:0.0	.	215	Q8IUH8	IMP5_HUMAN	W	215	ENSP00000332488:R215W	ENSP00000332488:R215W	R	+	1	2	AC217771.1	41278695	0.997000	0.39634	0.910000	0.35882	0.103000	0.19146	0.551000	0.23361	0.611000	0.30052	0.655000	0.94253	CGG		0.622	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		22	41	0	0	0	1	0	22	41					T	43922915	C	T	43922915	3	4	435	1	0	0	0	0	1	0	0	0	7721	759	27	1	645	1	IMP5	17	43922915	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15064	43922915	37272295	7454	28379											
KIAA1267	284058	broad.mit.edu	37	chr17	44109032	44109032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccgcctggggactgtgcGccagggggaaggtccgccgc	5	5	17	14	4	0	0	0	0	0	0	2	2	2	2	5	5	1	0	5	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:44109032G>A	ENST00000262419.6	-	15	3598	c.3128C>T	c.(3127-3129)gCg>gTg	p.A1043V	KANSL1_ENST00000572904.1_Missense_Mutation_p.A1043V|KANSL1_ENST00000575318.1_Missense_Mutation_p.A979V|KANSL1_ENST00000574590.1_Missense_Mutation_p.A1043V|KANSL1_ENST00000393476.3_Missense_Mutation_p.A337V|KANSL1_ENST00000432791.1_Missense_Mutation_p.A1043V	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	1043	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGGACTGTGCGCCAGGGGGAA	0.657																																						ENST00000262419.6																			0											c.(3127-3129)gCg>gTg		KAT8 regulatory NSL complex subunit 1							28	28	28					17																	44109032		2201	4299	6500	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44109032G>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.3128C>T	17.37:g.44109032G>A	ENSP00000262419:p.Ala1043Val					KANSL1_ENST00000574590.1_Missense_Mutation_p.A1043V|KANSL1_ENST00000575318.1_Missense_Mutation_p.A979V|KANSL1_ENST00000393476.3_Missense_Mutation_p.A337V|KANSL1_ENST00000432791.1_Missense_Mutation_p.A1043V|KANSL1_ENST00000572904.1_Missense_Mutation_p.A1043V	p.A1043V	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			15	3598	-			1043					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.3128C>T	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941723	0.73557	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.23754	2.7;2.7;1.89	5.54	5.54	0.83059	.	0.494876	0.22632	N	0.057577	T	0.19005	0.0456	N	0.19112	0.55	0.43803	D	0.99635	P;P;P;P	0.35192	0.489;0.489;0.456;0.456	B;B;B;B	0.29598	0.104;0.104;0.045;0.045	T	0.05068	-1.0908	10	0.62326	D	0.03	-0.3308	18.0627	0.89382	0.0:0.0:1.0:0.0	.	311;374;1043;1043	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	V	1043;1043;337	ENSP00000262419:A1043V;ENSP00000387393:A1043V;ENSP00000377117:A337V	ENSP00000262419:A1043V	A	-	2	0	KIAA1267	41464879	1.000000	0.71417	0.905000	0.35620	0.967000	0.64934	5.961000	0.70356	2.604000	0.88044	0.561000	0.74099	GCG		0.657	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		6	16	0	0	0	1	0	6	16					A	44109032	G	A	44109032	3	1	435	1	0	0	0	0	1	0	0	0	8219	1087	38	1	193	1	KIAA1267	17	44109032	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	186117	44109032	37086178	7455	28380											
KIAA1267	284058	broad.mit.edu	37	chr17	44171967	44171967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaaatgtctgtttgctgacGaattcgatattccaagtcag	11	14	9	7	2	2	1	1	1	1	0	4	3	3	1	1	0	1	3	1	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:44171967G>A	ENST00000262419.6	-	3	1860	c.1390C>T	c.(1390-1392)Cgt>Tgt	p.R464C	KANSL1_ENST00000572904.1_Missense_Mutation_p.R464C|KANSL1_ENST00000575318.1_Missense_Mutation_p.R464C|KANSL1_ENST00000574590.1_Missense_Mutation_p.R464C|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Missense_Mutation_p.R464C	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	464					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GTTTGCTGACGAATTCGATAT	0.438																																						ENST00000262419.6																			0											c.(1390-1392)Cgt>Tgt		KAT8 regulatory NSL complex subunit 1							119	134	129					17																	44171967		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44171967G>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1390C>T	17.37:g.44171967G>A	ENSP00000262419:p.Arg464Cys					KANSL1_ENST00000574590.1_Missense_Mutation_p.R464C|KANSL1_ENST00000575318.1_Missense_Mutation_p.R464C|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000572904.1_Missense_Mutation_p.R464C|KANSL1_ENST00000432791.1_Missense_Mutation_p.R464C	p.R464C	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			3	1860	-			464					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.1390C>T	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766087	0.69878	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.20598	2.06;2.06	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.27697	0.0681	M	0.77616	2.38	0.80722	D	1	B;P	0.37038	0.119;0.579	B;B	0.30716	0.027;0.119	T	0.26087	-1.0113	10	0.87932	D	0	-9.596	17.1421	0.86756	0.0:0.0:1.0:0.0	.	464;464	C9JHY2;Q7Z3B3	.;K1267_HUMAN	C	464	ENSP00000262419:R464C;ENSP00000387393:R464C	ENSP00000262419:R464C	R	-	1	0	KIAA1267	41527784	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.069000	0.93967	2.449000	0.82847	0.655000	0.94253	CGT		0.438	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		37	98	0	0	0	1	0	37	98					A	44171967	G	A	44171967	3	1	435	1	0	0	0	0	1	0	0	0	8219	1058	37	2	1979	2	KIAA1267	17	44171967	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62935	44171967	37023243	7456	28381											
KIAA1267	284058	broad.mit.edu	37	chr17	44249479	44249479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggtgtgcttcagctgctgCgtcagtgagagcgggcgcca	6	9	16	10	3	2	1	2	1	0	1	2	2	2	1	1	2	5	3	1	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:44249479C>T	ENST00000262419.6	-	2	501	c.31G>A	c.(31-33)Gca>Aca	p.A11T	KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000572904.1_Missense_Mutation_p.A11T|KANSL1_ENST00000575318.1_Missense_Mutation_p.A11T|KANSL1_ENST00000574590.1_Missense_Mutation_p.A11T|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Missense_Mutation_p.A11T	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	11					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TCAGCTGCTGCGTCAGTGAGA	0.602																																						ENST00000262419.6																			0											c.(31-33)Gca>Aca		KAT8 regulatory NSL complex subunit 1							50	60	57					17																	44249479		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44249479C>T	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.31G>A	17.37:g.44249479C>T	ENSP00000262419:p.Ala11Thr					KANSL1_ENST00000574590.1_Missense_Mutation_p.A11T|KANSL1_ENST00000575318.1_Missense_Mutation_p.A11T|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000572904.1_Missense_Mutation_p.A11T|KANSL1_ENST00000432791.1_Missense_Mutation_p.A11T	p.A11T	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			2	501	-			11					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.31G>A	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383859	0.61845	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.20738	2.05;2.05	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.03157	-1.1066	10	0.87932	D	0	-10.7581	14.6403	0.68720	0.0:0.8547:0.1453:0.0	.	11;11	C9JHY2;Q7Z3B3	.;K1267_HUMAN	T	11	ENSP00000262419:A11T;ENSP00000387393:A11T	ENSP00000262419:A11T	A	-	1	0	KIAA1267	41605256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.500000	0.66943	2.840000	0.97914	0.655000	0.94253	GCA		0.602	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		21	47	0	0	0	1	0	21	47					T	44249479	C	T	44249479	3	4	435	1	0	0	0	0	1	0	0	0	8219	768	27	1	3342	1	KIAA1267	17	44249479	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	77512	44249479	36945731	7457	28382											
LRRC37A2	474170	broad.mit.edu	37	chr17	44626192	44626192	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgagaagttagcgggaaaCgccgtctacaccaagccttc	11	7	10	13	3	1	1	0	1	1	1	2	3	1	2	4	1	4	1	4	1	5	3	rs376097433	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:44626192C>T	ENST00000576629.1	+	10	4182	c.3687C>T	c.(3685-3687)aaC>aaT	p.N1229N	LRRC37A2_ENST00000333412.3_Silent_p.N1229N|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1229						integral component of membrane (GO:0016021)				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)		TAGCGGGAAACGCCGTCTACA	0.592													c|||	2	0.000399361	0	0	5008	,	,		26908	0.001		0	False		,,,				2504	0.001					ENST00000576629.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15						c.(3685-3687)aaC>aaT		leucine rich repeat containing 37, member A2		C	,	1,4371	2.1+/-5.4	0,1,2185	57	97	84		3687,	0.8	0	17		84	0,8598		0,0,4299	no	coding-synonymous,intron	ARL17A,LRRC37A2	NM_001006607.2,NM_016632.2	,	0,1,6484	TT,TC,CC		0.0,0.0229,0.0077	,	1229/1701,	44626192	1,12969	2186	4299	6485	SO:0001819	synonymous_variant	474170					integral to membrane		g.chr17:44626192C>T	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"c114 SLIT-like testicular protein"						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.3687C>T	17.37:g.44626192C>T						ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000445552.2_Intron|LRRC37A2_ENST00000333412.3_Silent_p.N1229N	p.N1229N			A6NM11	L37A2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	10	4182	+		Melanoma(429;0.211)	1229					B7ZMC3	Silent	SNP	ENST00000576629.1	37	c.3687C>T	CCDS42353.1																																																																																				0.592	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		4	128	0	0	0	1	0	4	128					T	44626192	C	T	44626192	2	4	435	1	0	0	0	0	0	0	0	1	8992	535	19	1		1	LRRC37A2	17	44626192	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	376713	44626192	36569018	7458	28383											
LRRC37A2	474170	broad.mit.edu	37	chr17	44626527	44626527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagactgatgctcgcaaacaGgcttccattctctgcagcga	10	10	9	12	2	1	2	0	1	1	1	4	3	2	2	1	1	4	4	1	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:44626527G>T	ENST00000576629.1	+	10	4517	c.4022G>T	c.(4021-4023)aGg>aTg	p.R1341M	LRRC37A2_ENST00000333412.3_Missense_Mutation_p.R1341M|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1341						integral component of membrane (GO:0016021)				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)		CTCGCAAACAGGCTTCCATTC	0.463																																						ENST00000576629.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15						c.(4021-4023)aGg>aTg		leucine rich repeat containing 37, member A2							29	51	44					17																	44626527		2106	4268	6374	SO:0001583	missense	474170					integral to membrane		g.chr17:44626527G>T	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"c114 SLIT-like testicular protein"						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4022G>T	17.37:g.44626527G>T	ENSP00000459551:p.Arg1341Met					ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000445552.2_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.R1341M	p.R1341M			A6NM11	L37A2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	10	4517	+		Melanoma(429;0.211)	1341					B7ZMC3	Missense_Mutation	SNP	ENST00000576629.1	37	c.4022G>T	CCDS42353.1	.	.	.	.	.	.	.	.	.	.	g	12.95	2.090133	0.36855	.	.	ENSG00000238083	ENST00000333412	T	0.60424	0.19	2.91	1.91	0.25777	.	.	.	.	.	T	0.68091	0.2963	L	0.61218	1.895	0.09310	N	1	D;D;D	0.89917	0.99;1.0;1.0	D;D;D	0.75484	0.962;0.983;0.986	T	0.53746	-0.8395	9	0.62326	D	0.03	.	5.9006	0.18964	0.1571:0.0:0.8429:0.0	.	1341;302;1341	C9JSP5;B3KRJ4;A6NM11	.;.;L37A2_HUMAN	M	1341	ENSP00000333071:R1341M	ENSP00000333071:R1341M	R	+	2	0	LRRC37A2	41981843	0.012000	0.17670	0.017000	0.16124	0.140000	0.21249	1.763000	0.38461	0.553000	0.29044	0.175000	0.17021	AGG		0.463	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		26	103	1	0	6.05902e-23	1	6.74593e-23	26	103					T	44626527	G	T	44626527	3	4	435	1	0	0	0	0	1	0	0	0	8992	1000	35	5	4056	5	LRRC37A2	17	44626527	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	335	44626527	36568683	7459	28384											
GOSR2	9570	broad.mit.edu	37	chr17	45012589	45012589	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttgttttagcctcatccaAcagtttagtaactgtgttta	9	18	6	8	0	2	0	1	0	1	0	3	0	3	0	2	0	3	4	2	0	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:45012589A>G	ENST00000393456.2	+	5	534				GOSR2_ENST00000439730.2_Intron|RP11-156P1.2_ENST00000571841.1_Intron|GOSR2_ENST00000576910.2_Intron|GOSR2_ENST00000225567.4_Intron|GOSR2_ENST00000415811.2_Silent_p.Q177Q	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			GCCTCATCCAACAGTTTAGTA	0.448																																						ENST00000415811.2																			0				kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7						c.(529-531)caA>caG		golgi SNAP receptor complex member 2							64	68	67					17																	45012589		1327	2309	3636	SO:0001627	intron_variant	9570				cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity	g.chr17:45012589A>G	AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.477+54A>G	17.37:g.45012589A>G						GOSR2_ENST00000576910.2_Intron|RP11-156P1.2_ENST00000571841.1_Intron|GOSR2_ENST00000393456.2_Intron|GOSR2_ENST00000225567.4_Intron|GOSR2_ENST00000439730.2_Intron	p.Q177Q	NM_001012511.1	NP_001012529.1	O14653	GOSR2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.102)		5	586	+			172					D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Silent	SNP	ENST00000393456.2	37	c.531A>G	CCDS42355.1																																																																																				0.448	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1			10	22	0	0	0	1	0	10	22					G	45012589	A	G	45012589	1	3	435	0	1	0	0	0	0	0	0	0	6578	40	2	4		4	GOSR2	17	45012589	Intron	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	386062	45012589	36182621	7460	28385											
CDC27	996	broad.mit.edu	37	chr17	45235647	45235647	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttggtaacattctgatcCtttggcaagccgatctgtct	7	16	8	10	1	3	1	0	1	3	0	4	2	4	1	2	2	2	2	2	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:45235647C>A	ENST00000066544.3	-	5	493	c.400G>T	c.(400-402)Gga>Tga	p.G134*	CDC27_ENST00000446365.2_Nonsense_Mutation_p.G73*|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000527547.1_Nonsense_Mutation_p.G134*|RP5-867C24.4_ENST00000574021.1_RNA|CDC27_ENST00000531206.1_Nonsense_Mutation_p.G134*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	134					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CATTCTGATCCTTTGGCAAGC	0.388																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(400-402)Gga>Tga		cell division cycle 27							37	39	38					17																	45235647		2203	4300	6503	SO:0001587	stop_gained	996				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	g.chr17:45235647C>A	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.400G>T	17.37:g.45235647C>A	ENSP00000066544:p.Gly134*					CDC27_ENST00000446365.2_Nonsense_Mutation_p.G73*|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Nonsense_Mutation_p.G134*|CDC27_ENST00000527547.1_Nonsense_Mutation_p.G134*	p.G134*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			5	493	-			134					G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	ENST00000066544.3	37	c.400G>T	CCDS11509.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.398648|5.398648	0.96030|0.96030	.|.	.|.	ENSG00000004897|ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866|ENST00000533415	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77226	.|0.4099	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.79448	.|-0.1799	.|4	0.87932|0.87932	D|D	0|0	-16.6032|-16.6032	17.2195|17.2195	0.86953|0.86953	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	134;134;73;134;134|84	.|.	ENSP00000066544:G134X|ENSP00000432211:K84N	G|K	-|-	1|3	0|2	CDC27|CDC27	42590646|42590646	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.885000|0.885000	0.51271|0.51271	6.861000|6.861000	0.75478|0.75478	2.667000|2.667000	0.90743|0.90743	0.585000|0.585000	0.79938|0.79938	GGA|AAG		0.388	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			14	28	1	0	0.000308642	1	0.000314663	14	28					A	45235647	C	A	45235647	4	1	435	1	0	0	0	0	0	1	0	0	3066	690	24	5	2152	5	CDC27	17	45235647	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	223058	45235647	35959563	7461	28386											
C17orf57	124989	broad.mit.edu	37	chr17	45421567	45421567	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtcaaaggagaaggtgAcaaggaaagaaaactcttta	18	7	11	5	0	2	3	1	1	1	2	2	5	2	4	0	3	2	1	0	3	7	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:45421567A>G	ENST00000331493.2	+	7	754	c.343A>G	c.(343-345)Aca>Gca	p.T115A	ITGB3_ENST00000435993.2_3'UTR|ITGB3_ENST00000560629.1_3'UTR|EFCAB13_ENST00000517484.1_Missense_Mutation_p.T115A	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	115						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										GGAGAAGGTGACAAGGAAAGA	0.413																																						ENST00000331493.2																			0											c.(343-345)Aca>Gca		EF-hand calcium binding domain 13							180	163	169					17																	45421567		2203	4300	6503	SO:0001583	missense	124989							g.chr17:45421567A>G	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.343A>G	17.37:g.45421567A>G	ENSP00000332111:p.Thr115Ala					ITGB3_ENST00000560629.1_3'UTR|ITGB3_ENST00000435993.2_3'UTR|EFCAB13_ENST00000517484.1_Missense_Mutation_p.T115A	p.T115A	NM_152347.4	NP_689560.3					7	754	+								G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.343A>G	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024795	0.35701	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.69040	0.23;-0.37	3.19	-0.227	0.13102	.	0.633647	0.14076	N	0.343044	T	0.56702	0.2003	L	0.59436	1.845	0.09310	N	0.999999	B;B;B	0.30146	0.154;0.27;0.27	B;B;B	0.29524	0.032;0.103;0.059	T	0.52426	-0.8577	10	0.87932	D	0	-10.8107	5.6762	0.17749	0.6141:0.0:0.3859:0.0	.	115;115;115	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	A	115	ENSP00000332111:T115A;ENSP00000430048:T115A	ENSP00000332111:T115A	T	+	1	0	C17orf57	42776566	0.009000	0.17119	0.440000	0.26846	0.147000	0.21601	0.270000	0.18607	-0.089000	0.12484	-0.361000	0.07541	ACA		0.413	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		34	44	0	0	0	1	0	34	44					G	45421567	A	G	45421567	3	3	435	1	0	0	0	0	1	0	0	0	1865	275	10	4	357	4	C17orf57	17	45421567	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	185920	45421567	35773643	7462	28387											
C17orf57	124989	broad.mit.edu	37	chr17	45456578	45456578	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggagttagatgactttgTaaatgctctcgccaaggagc	10	11	13	7	1	1	2	0	1	1	1	2	4	1	4	1	3	2	3	1	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:45456578T>C	ENST00000331493.2	+	14	1952	c.1541T>C	c.(1540-1542)gTa>gCa	p.V514A	EFCAB13_ENST00000517484.1_Missense_Mutation_p.V418A	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	514	EF-hand 1.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										GATGACTTTGTAAATGCTCTC	0.338																																						ENST00000331493.2																			0											c.(1540-1542)gTa>gCa		EF-hand calcium binding domain 13							111	104	106					17																	45456578		2203	4300	6503	SO:0001583	missense	124989							g.chr17:45456578T>C	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1541T>C	17.37:g.45456578T>C	ENSP00000332111:p.Val514Ala					EFCAB13_ENST00000517484.1_Missense_Mutation_p.V418A	p.V514A	NM_152347.4	NP_689560.3					14	1952	+								G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.1541T>C	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	T	9.045	0.990585	0.18966	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176;ENST00000523842	T;T;T	0.65549	0.24;-0.16;0.91	3.5	2.41	0.29592	EF-hand-like domain (1);	1.368180	0.04718	N	0.418775	T	0.49508	0.1561	N	0.22421	0.69	0.09310	N	1	B;B;B	0.18310	0.027;0.017;0.003	B;B;B	0.19391	0.025;0.022;0.009	T	0.43956	-0.9359	10	0.87932	D	0	0.0265	5.7008	0.17881	0.0:0.1304:0.0:0.8696	.	466;514;418	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	A	514;418;466;40	ENSP00000332111:V514A;ENSP00000430048:V418A;ENSP00000429566:V40A	ENSP00000332111:V514A	V	+	2	0	C17orf57	42811577	0.239000	0.23836	0.059000	0.19551	0.016000	0.09150	1.524000	0.35942	0.504000	0.28082	-0.736000	0.03550	GTA		0.338	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		9	32	0	0	0	1	0	9	32					C	45456578	T	C	45456578	3	2	435	1	0	0	0	0	1	0	0	0	1865	1638	57	4	1583	4	C17orf57	17	45456578	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	35011	45456578	35738632	7463	28388											
MRPL10	124995	broad.mit.edu	37	chr17	45901638	45901638	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagaatccttctcgcgtTgctctctgatgtactggtcc	6	14	9	12	2	2	3	0	2	2	1	6	3	4	3	2	1	2	3	2	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:45901638T>A	ENST00000351111.2	-	5	724	c.719A>T	c.(718-720)cAa>cTa	p.Q240L	OSBPL7_ENST00000007414.3_5'Flank|MRPL10_ENST00000414011.1_Missense_Mutation_p.Q250L|MRPL10_ENST00000290208.7_Missense_Mutation_p.Q250L|OSBPL7_ENST00000392507.3_5'Flank	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	240					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						CTTCTCGCGTTGCTCTCTGAT	0.587																																						ENST00000290208.7																			0				endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						c.(748-750)cAa>cTa		mitochondrial ribosomal protein L10							109	93	98					17																	45901638		2203	4300	6503	SO:0001583	missense	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45901638T>A	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"Mitochondrial ribosomal proteins / large subunits"	14055	protein-coding gene	gene with protein product	"39S ribosomal protein L10, mitochondrial"	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.719A>T	17.37:g.45901638T>A	ENSP00000324100:p.Gln240Leu					MRPL10_ENST00000414011.1_Missense_Mutation_p.Q250L|MRPL10_ENST00000351111.2_Missense_Mutation_p.Q240L	p.Q250L			Q7Z7H8	RM10_HUMAN			5	1201	-			240					A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	ENST00000351111.2	37	c.749A>T	CCDS11516.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453122	0.63290	.	.	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	T;T;T	0.50001	0.76;1.8;1.8	4.76	3.68	0.42216	.	0.240770	0.42682	D	0.000675	T	0.64527	0.2606	M	0.81239	2.535	0.48901	D	0.999726	D;D	0.76494	0.999;0.999	D;D	0.64144	0.922;0.922	T	0.65561	-0.6138	10	0.62326	D	0.03	-4.7096	9.1942	0.37217	0.0:0.088:0.0:0.912	.	240;250	Q7Z7H8;A6NGJ4	RM10_HUMAN;.	L	240;250;250	ENSP00000324100:Q240L;ENSP00000290208:Q250L;ENSP00000395870:Q250L	ENSP00000290208:Q250L	Q	-	2	0	MRPL10	43256637	1.000000	0.71417	0.662000	0.29724	0.465000	0.32709	4.084000	0.57650	0.686000	0.31488	0.402000	0.26972	CAA		0.587	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		17	27	0	0	0	1	0	17	27					A	45901638	T	A	45901638	3	1	435	1	0	0	0	0	1	0	0	0	9775	1812	63	5	70	5	MRPL10	17	45901638	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	445060	45901638	35293572	7464	28389											
SP2	6668	broad.mit.edu	37	chr17	45994483	45994483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatccaggcagctgagcCgacacctactcaggtaccac	11	6	9	15	1	2	2	2	1	0	1	3	3	3	2	4	2	4	3	4	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:45994483C>T	ENST00000376741.4	+	3	1183	c.1046C>T	c.(1045-1047)cCg>cTg	p.P349L	AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	349					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GCAGCTGAGCCGACACCTACT	0.577																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(1045-1047)cCg>cTg		Sp2 transcription factor							57	53	54					17																	45994483		2142	4216	6358	SO:0001583	missense	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:45994483C>T		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.1046C>T	17.37:g.45994483C>T	ENSP00000365931:p.Pro349Leu					AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA	p.P349L	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN			3	1183	+			349					A6NK74	Missense_Mutation	SNP	ENST00000376741.4	37	c.1046C>T	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921223	0.33908	.	.	ENSG00000167182	ENST00000376741	T	0.11712	2.75	5.41	4.43	0.53597	.	0.480344	0.23506	N	0.047458	T	0.06280	0.0162	L	0.47716	1.5	0.52501	D	0.99995	P	0.45078	0.85	B	0.25614	0.062	T	0.31752	-0.9932	10	0.09084	T	0.74	.	9.5376	0.39231	0.1784:0.6813:0.1403:0.0	.	349	Q02086	SP2_HUMAN	L	349	ENSP00000365931:P349L	ENSP00000365931:P349L	P	+	2	0	SP2	43349482	0.974000	0.33945	0.783000	0.31826	0.963000	0.63663	3.683000	0.54663	1.457000	0.47850	0.563000	0.77884	CCG		0.577	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		21	44	0	0	0	1	0	21	44					T	45994483	C	T	45994483	3	4	435	1	0	0	0	0	1	0	0	0	14964	652	23	2	1056	2	SP2	17	45994483	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	92845	45994483	35200727	7465	28390											
HOXB3	3213	broad.mit.edu	37	chr17	46628442	46628442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcttggacgccgccgaccCcggggggctcttgtcccctc	2	7	13	19	5	1	0	0	0	1	0	3	2	2	1	7	4	0	2	7	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:46628442C>A	ENST00000470495.1	-	2	1997	c.550G>T	c.(550-552)Ggg>Tgg	p.G184W	HOXB3_ENST00000311626.4_Missense_Mutation_p.G184W|HOXB3_ENST00000489475.1_Missense_Mutation_p.G111W|HOXB3_ENST00000476342.1_Missense_Mutation_p.G184W|HOXB3_ENST00000472863.1_Missense_Mutation_p.G111W|HOXB3_ENST00000490677.1_Missense_Mutation_p.G50W|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.G52W|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.G52W|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.G184W			P14651	HXB3_HUMAN	homeobox B3	184					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GCCGCCGACCCCGGGGGGCTC	0.756																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(550-552)Ggg>Tgg		homeobox B3							21	24	23					17																	46628442		2197	4291	6488	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628442C>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"Homeoboxes / ANTP class : HOXL subclass"	5114	protein-coding gene	gene with protein product		142966	"homeo box B3"	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.550G>T	17.37:g.46628442C>A	ENSP00000417207:p.Gly184Trp					HOXB3_ENST00000490677.1_Missense_Mutation_p.G50W|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.G184W|HOXB3_ENST00000311626.4_Missense_Mutation_p.G184W|HOXB3_ENST00000476342.1_Missense_Mutation_p.G184W|HOXB3_ENST00000489475.1_Missense_Mutation_p.G111W|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.G52W|HOXB3_ENST00000472863.1_Missense_Mutation_p.G111W|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.G52W	p.G184W			P14651	HXB3_HUMAN			2	1997	-			184					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.550G>T	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191184	0.78902	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;D;D;D;D;D	0.98493	-1.51;-4.96;-1.51;-1.51;-1.51;-4.96;-4.96;-4.96;-1.51	4.09	4.09	0.47781	Homeodomain-related (1);	0.177233	0.49305	D	0.000160	D	0.98798	0.9595	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99751	1.1018	10	0.87932	D	0	.	16.8626	0.86021	0.0:1.0:0.0:0.0	.	184	P14651	HXB3_HUMAN	W	184;111;184;184;50;52;52;111;184	ENSP00000417207:G184W;ENSP00000419676:G111W;ENSP00000308252:G184W;ENSP00000420595:G184W;ENSP00000449977:G50W;ENSP00000418035:G52W;ENSP00000438747:G52W;ENSP00000418729:G111W;ENSP00000418892:G184W	ENSP00000308252:G184W	G	-	1	0	HOXB3	43983441	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	5.222000	0.65277	2.277000	0.76020	0.655000	0.94253	GGG		0.756	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			12	54	1	0	7.03913e-09	1	7.44699e-09	12	54					A	46628442	C	A	46628442	3	1	435	1	0	0	0	0	1	0	0	0	7302	623	22	5	749	5	HOXB3	17	46628442	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	633959	46628442	34566768	7466	28391			2	47		3	3	47	N	G_C	8.995355e-05
HOXB3	3213	broad.mit.edu	37	chr17	46628468	46628468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctcttgtcccctcccccgCcgccgccgccaccgcccccg	1	5	9	26	6	1	0	0	0	1	0	3	0	3	0	11	1	0	1	11	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:46628468C>T	ENST00000470495.1	-	2	1971	c.524G>A	c.(523-525)gGc>gAc	p.G175D	HOXB3_ENST00000311626.4_Missense_Mutation_p.G175D|HOXB3_ENST00000489475.1_Missense_Mutation_p.G102D|HOXB3_ENST00000476342.1_Missense_Mutation_p.G175D|HOXB3_ENST00000472863.1_Missense_Mutation_p.G102D|HOXB3_ENST00000490677.1_Missense_Mutation_p.G41D|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.G43D|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.G43D|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.G175D			P14651	HXB3_HUMAN	homeobox B3	175	Gly-rich.				angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CCCTCCCccgccgccgccgcc	0.771																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(523-525)gGc>gAc		homeobox B3							6	9	8					17																	46628468		1890	3749	5639	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628468C>T		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"Homeoboxes / ANTP class : HOXL subclass"	5114	protein-coding gene	gene with protein product		142966	"homeo box B3"	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.524G>A	17.37:g.46628468C>T	ENSP00000417207:p.Gly175Asp					HOXB3_ENST00000490677.1_Missense_Mutation_p.G41D|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.G175D|HOXB3_ENST00000311626.4_Missense_Mutation_p.G175D|HOXB3_ENST00000476342.1_Missense_Mutation_p.G175D|HOXB3_ENST00000489475.1_Missense_Mutation_p.G102D|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.G43D|HOXB3_ENST00000472863.1_Missense_Mutation_p.G102D|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.G43D	p.G175D			P14651	HXB3_HUMAN			2	1971	-			175			Gly-rich.		A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.524G>A	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	C	8.998	0.979343	0.18812	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;T;D;D;D;D	0.98455	-2.89;-4.94;-2.89;-2.89;-0.74;-4.94;-4.94;-4.94;-2.89	3.93	1.9	0.25705	Homeodomain-related (1);	0.246616	0.41605	D	0.000844	D	0.91988	0.7462	N	0.22421	0.69	0.80722	D	1	B	0.32245	0.361	B	0.26416	0.069	D	0.87028	0.2133	10	0.05959	T	0.93	.	5.4238	0.16415	0.0:0.6807:0.2057:0.1137	.	175	P14651	HXB3_HUMAN	D	175;102;175;175;41;43;43;102;175	ENSP00000417207:G175D;ENSP00000419676:G102D;ENSP00000308252:G175D;ENSP00000420595:G175D;ENSP00000449977:G41D;ENSP00000418035:G43D;ENSP00000438747:G43D;ENSP00000418729:G102D;ENSP00000418892:G175D	ENSP00000308252:G175D	G	-	2	0	HOXB3	43983467	0.997000	0.39634	1.000000	0.80357	0.457000	0.32468	0.841000	0.27613	0.434000	0.26340	-0.150000	0.13652	GGC		0.771	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			19	19	0	0	0	1	0	19	19					T	46628468	C	T	46628468	3	4	435	1	0	0	0	0	1	0	0	0	7302	739	26	3	775	3	HOXB3	17	46628468	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26	46628468	34566742	7467	28392			2	47		3	3	47	N	G_C	8.995355e-05
HOXB3	3213	broad.mit.edu	37	chr17	46628488	46628488	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgccgccaccgcccccGctgccaccactgcctccgcc	3	3	8	27	6	0	0	0	0	0	0	1	0	1	0	12	0	2	1	12	0	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:46628488G>A	ENST00000470495.1	-	2	1951	c.504C>T	c.(502-504)agC>agT	p.S168S	HOXB3_ENST00000311626.4_Silent_p.S168S|HOXB3_ENST00000489475.1_Silent_p.S95S|HOXB3_ENST00000476342.1_Silent_p.S168S|HOXB3_ENST00000472863.1_Silent_p.S95S|HOXB3_ENST00000490677.1_Silent_p.S34S|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Silent_p.S36S|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000485909.2_Silent_p.S36S|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000498678.1_Silent_p.S168S			P14651	HXB3_HUMAN	homeobox B3	168	Gly-rich.				angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						caccgcccccgctgccaccac	0.751																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(502-504)agC>agT		homeobox B3							6	9	8					17																	46628488		1034	2273	3307	SO:0001819	synonymous_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628488G>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"Homeoboxes / ANTP class : HOXL subclass"	5114	protein-coding gene	gene with protein product		142966	"homeo box B3"	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.504C>T	17.37:g.46628488G>A						HOXB3_ENST00000490677.1_Silent_p.S34S|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Silent_p.S168S|HOXB3_ENST00000311626.4_Silent_p.S168S|HOXB3_ENST00000476342.1_Silent_p.S168S|HOXB3_ENST00000489475.1_Silent_p.S95S|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Silent_p.S36S|HOXB3_ENST00000472863.1_Silent_p.S95S|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Silent_p.S36S	p.S168S			P14651	HXB3_HUMAN			2	1951	-			168			Gly-rich.		A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	37	c.504C>T	CCDS11528.1																																																																																				0.751	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			9	7	0	0	0	1	0	9	7					A	46628488	G	A	46628488	2	1	435	1	0	0	0	0	0	0	0	1	7302	1078	38	1		1	HOXB3	17	46628488	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20	46628488	34566722	7468	28393			2	47		3	3	47	N	G_C	8.995355e-05
HOXB4	3214	broad.mit.edu	37	chr17	46655264	46655264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcatccaggggtagacgaCgggctctttgcacgcggagt	7	7	16	11	5	1	1	0	0	1	1	2	3	2	2	1	4	1	4	1	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:46655264C>T	ENST00000332503.5	-	1	2209	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000485909.2_5'Flank|MIR10A_ENST00000385043.1_RNA|HOXB3_ENST00000498678.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	140					anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						GGGTAGACGACGGGCTCTTTG	0.697																																						ENST00000332503.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						c.(418-420)Gtc>Atc		homeobox B4							24	28	27					17																	46655264		2160	4209	6369	SO:0001583	missense	3214					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46655264C>T		CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"Homeoboxes / ANTP class : HOXL subclass"	5115	protein-coding gene	gene with protein product		142965	"homeo box B4"	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.418G>A	17.37:g.46655264C>T	ENSP00000328928:p.Val140Ile					HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000472863.1_Intron	p.V140I	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN			1	2209	-			140					Q9NTA0	Missense_Mutation	SNP	ENST00000332503.5	37	c.418G>A	CCDS11529.1	.	.	.	.	.	.	.	.	.	.	C	8.484	0.860414	0.17178	.	.	ENSG00000182742	ENST00000332503	D	0.91011	-2.77	3.99	0.864	0.19068	.	0.071696	0.53938	D	0.000044	T	0.78547	0.4300	L	0.31294	0.92	0.46241	D	0.99894	P	0.36616	0.561	B	0.23150	0.044	T	0.69213	-0.5204	10	0.30078	T	0.28	.	7.7878	0.29101	0.0:0.7056:0.0:0.2944	.	140	P17483	HXB4_HUMAN	I	140	ENSP00000328928:V140I	ENSP00000328928:V140I	V	-	1	0	HOXB4	44010263	1.000000	0.71417	0.998000	0.56505	0.155000	0.21991	2.878000	0.48515	0.208000	0.20626	-0.229000	0.12294	GTC		0.697	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2			11	17	0	0	0	1	0	11	17					T	46655264	C	T	46655264	3	4	435	1	0	0	0	0	1	0	0	0	7303	536	19	1	345	1	HOXB4	17	46655264	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26776	46655264	34539946	7469	28394											
HOXB9	3219	broad.mit.edu	37	chr17	46700277	46700277	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatctttactctttgccctgCtccttattcattttcttcat	6	21	2	12	0	5	0	2	0	3	0	6	0	6	0	2	0	3	1	2	0	3	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:46700277C>T	ENST00000311177.5	-	2	945	c.738G>A	c.(736-738)gaG>gaA	p.E246E	HOXB9_ENST00000550387.1_3'UTR|HOXB7_ENST00000567101.2_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	246					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						CTTTGCCCTGCTCCTTATTCA	0.473																																						ENST00000311177.5																			0				breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						c.(736-738)gaG>gaA		homeobox B9							157	169	165					17																	46700277		2203	4300	6503	SO:0001819	synonymous_variant	3219				canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46700277C>T		CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"Homeoboxes / ANTP class : HOXL subclass"	5120	protein-coding gene	gene with protein product		142964	"homeo box B9"	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.738G>A	17.37:g.46700277C>T						HOXB9_ENST00000550387.1_3'UTR|HOXB7_ENST00000567101.1_Intron	p.E246E	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN			2	945	-			246					B2RDB7|Q9H1I1	Silent	SNP	ENST00000311177.5	37	c.738G>A	CCDS11534.1																																																																																				0.473	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2			23	28	0	0	0	1	0	23	28					T	46700277	C	T	46700277	2	4	435	1	0	0	0	0	0	0	0	1	7308	796	28	3		3	HOXB9	17	46700277	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	45013	46700277	34494933	7470	28395											
TTLL6	284076	broad.mit.edu	37	chr17	46862492	46862493	+	Frame_Shift_Ins	INS	-	-	T																															tgaggctgctgtctgtttcaINStttttcctttcacctctgac																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:46862492_46862493insT	ENST00000393382.3	-	13	1973_1974	c.1832_1833insA	c.(1831-1833)aatfs	p.N611fs	TTLL6_ENST00000433608.2_Frame_Shift_Ins_p.N304fs	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGTCTGTTTCATTTTTCCTTTC	0.52																																						ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1831-1833)agafs		tubulin tyrosine ligase-like family, member 6																																				SO:0001589	frameshift_variant	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46862492_46862493insT	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1833dupA	17.37:g.46862497_46862497dupT	ENSP00000377043:p.Asn611fs					TTLL6_ENST00000433608.2_Frame_Shift_Ins_p.R304fs	p.R611fs	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN			13	1973_1974	-			563						Frame_Shift_Ins	INS	ENST00000393382.3	37	c.1832_1833insA	CCDS45724.1																																																																																				0.52	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		30	36						30	36	---	---	---	---	T	46862493	-	T	46862492	7	5	435	1	0	1	1	0	0	0	0	0	16728	214	8	0	854	0	TTLL6	17	46862492	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	162215	46862492	34332718	7471	28396											
TTLL6	284076	broad.mit.edu	37	chr17	46871632	46871632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagggcctgctgttggggtgCcaattctcattggaggagga	7	10	16	8	0	1	0	1	0	1	0	2	3	1	3	2	6	2	2	2	6	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:46871632C>T	ENST00000433608.2	-	1	64	c.11G>A	c.(10-12)gGc>gAc	p.G4D	TTLL6_ENST00000393382.3_Intron	NM_173623.3	NP_775894.2			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGTTGGGGTGCCAATTCTCAT	0.522																																						ENST00000433608.2																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(10-12)gGc>gAc		tubulin tyrosine ligase-like family, member 6							107	96	99					17																	46871632		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46871632C>T	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000433608.2:c.11G>A	17.37:g.46871632C>T	ENSP00000399211:p.Gly4Asp					TTLL6_ENST00000393382.3_Intron	p.G4D	NM_173623.3	NP_775894.2	Q8N841	TTLL6_HUMAN			1	64	-			0						Missense_Mutation	SNP	ENST00000433608.2	37	c.11G>A	CCDS11537.2	.	.	.	.	.	.	.	.	.	.	C	5.889	0.348104	0.11126	.	.	ENSG00000170703	ENST00000305326	.	.	.	1.97	-0.824	0.10812	.	.	.	.	.	T	0.28267	0.0698	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25187	-1.0139	8	0.56958	D	0.05	.	4.449	0.11611	0.0:0.3815:0.0:0.6185	.	4	G5E937	.	D	4	.	ENSP00000302547:G4D	G	-	2	0	TTLL6	44226631	0.014000	0.17966	0.002000	0.10522	0.365000	0.29674	0.407000	0.21049	-0.168000	0.10853	-0.459000	0.05422	GGC		0.522	TTLL6-001	KNOWN	downstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346937.3	NM_173623		4	15	0	0	0	1	0	4	15					T	46871632	C	T	46871632	3	4	435	1	0	0	0	0	1	0	0	0	16728	739	26	3	1775	3	TTLL6	17	46871632	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9140	46871632	34323578	7472	28397											
CALCOCO2	10241	broad.mit.edu	37	chr17	46925456	46925456	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaacccgtgagtattacAccttcatgtgggttactttg	10	13	9	9	1	1	2	1	1	0	1	1	2	1	2	2	1	3	2	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:46925456A>G	ENST00000258947.3	+	3	312	c.211A>G	c.(211-213)Acc>Gcc	p.T71A	CALCOCO2_ENST00000509507.1_Missense_Mutation_p.T92A|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.T71A|CALCOCO2_ENST00000508679.1_5'UTR|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.T95A	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	71					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						TGAGTATTACACCTTCATGTG	0.423																																						ENST00000258947.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(211-213)Acc>Gcc		calcium binding and coiled-coil domain 2							114	98	104					17																	46925456		2203	4300	6503	SO:0001583	missense	10241				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	g.chr17:46925456A>G	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.211A>G	17.37:g.46925456A>G	ENSP00000258947:p.Thr71Ala					CALCOCO2_ENST00000509507.1_Missense_Mutation_p.T92A|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.T71A|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.T95A|CALCOCO2_ENST00000508679.1_5'UTR	p.T71A	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN			3	312	+			71					B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Missense_Mutation	SNP	ENST00000258947.3	37	c.211A>G	CCDS11538.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.681794	0.88542	.	.	ENSG00000136436	ENST00000258947;ENST00000509507;ENST00000448105;ENST00000416445;ENST00000505071;ENST00000502761	T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000005	T	0.48537	0.1505	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.63046	0.992;0.989;0.989;0.989	D;D;D;D	0.70016	0.93;0.967;0.966;0.966	T	0.57831	-0.7743	10	0.72032	D	0.01	-8.7021	15.3333	0.74231	1.0:0.0:0.0:0.0	.	71;95;92;71	E7ETP5;B4DP36;E9PBE5;Q13137	.;.;.;CACO2_HUMAN	A	71;92;95;71;71;71	ENSP00000258947:T71A;ENSP00000424352:T92A;ENSP00000398523:T95A;ENSP00000406974:T71A;ENSP00000422697:T71A;ENSP00000424889:T71A	ENSP00000258947:T71A	T	+	1	0	CALCOCO2	44280455	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.134000	0.77268	2.107000	0.64212	0.482000	0.46254	ACC		0.423	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831		13	25	0	0	0	1	0	13	25					G	46925456	A	G	46925456	3	3	435	1	0	0	0	0	1	0	0	0	2578	159	6	4	217	4	CALCOCO2	17	46925456	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	53824	46925456	34269754	7473	28398											
ATP5G1	516	broad.mit.edu	37	chr17	46972665	46972665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggctggcattggaaccGtgtttggcagcttgatcatt	7	12	14	8	1	1	1	1	1	0	0	1	2	1	2	1	5	2	5	1	5	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:46972665G>A	ENST00000393366.2	+	4	368	c.265G>A	c.(265-267)Gtg>Atg	p.V89M	ATP5G1_ENST00000514808.1_Missense_Mutation_p.V89M|ATP5G1_ENST00000506855.1_Missense_Mutation_p.V63M|ATP5G1_ENST00000513781.1_3'UTR|RP11-463M16.4_ENST00000508743.1_RNA|ATP5G1_ENST00000355938.5_Missense_Mutation_p.V89M|ATP5G1_ENST00000503641.1_Missense_Mutation_p.V80M	NM_005175.2	NP_005166.1	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)	89					ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			liver(1)|lung(1)	2						CATTGGAACCGTGTTTGGCAG	0.552																																						ENST00000393366.2																			0				liver(1)|lung(1)	2						c.(265-267)Gtg>Atg		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)							146	136	140					17																	46972665		2203	4300	6503	SO:0001583	missense	516				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	g.chr17:46972665G>A	D13118	CCDS11539.1	17q21.32	2012-10-12	2010-06-11		ENSG00000159199	ENSG00000159199		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	841	protein-coding gene	gene with protein product		603192	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9)"	ATP5G		8328972	Standard	NM_005175		Approved		uc002ioh.3	P05496	OTTHUMG00000160520	ENST00000393366.2:c.265G>A	17.37:g.46972665G>A	ENSP00000377033:p.Val89Met					RP11-463M16.4_ENST00000508743.1_RNA|ATP5G1_ENST00000506855.1_Missense_Mutation_p.V63M|ATP5G1_ENST00000503641.1_Missense_Mutation_p.V80M|ATP5G1_ENST00000513781.1_3'UTR|ATP5G1_ENST00000514808.1_Missense_Mutation_p.V89M|ATP5G1_ENST00000355938.5_Missense_Mutation_p.V89M	p.V89M	NM_005175.2	NP_005166.1	P05496	AT5G1_HUMAN			4	368	+			89						Missense_Mutation	SNP	ENST00000393366.2	37	c.265G>A	CCDS11539.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601256	0.87055	.	.	ENSG00000159199	ENST00000355938;ENST00000503641;ENST00000514808;ENST00000393366;ENST00000506855	T;T;T;T;T	0.51574	0.74;0.74;0.7;0.74;0.74	4.52	4.52	0.55395	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.77734	-0.2477	10	0.72032	D	0.01	-4.9652	17.0416	0.86491	0.0:0.0:1.0:0.0	.	89	P05496	AT5G1_HUMAN	M	89;80;89;89;63	ENSP00000348205:V89M;ENSP00000426094:V80M;ENSP00000422086:V89M;ENSP00000377033:V89M;ENSP00000422950:V63M	ENSP00000348205:V89M	V	+	1	0	ATP5G1	44327664	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	9.657000	0.98554	2.352000	0.79861	0.561000	0.74099	GTG		0.552	ATP5G1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360948.2	NM_005175		16	31	0	0	0	1	0	16	31					A	46972665	G	A	46972665	3	1	435	1	0	0	0	0	1	0	0	0	1153	1145	40	1	275	1	ATP5G1	17	46972665	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	47209	46972665	34222545	7474	28399											
UBE2Z	65264	broad.mit.edu	37	chr17	47004470	47004470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatctgggacagagacaGaccttcatgggagcctgagg	10	8	14	9	0	3	3	2	1	1	2	3	6	3	5	2	3	1	1	2	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:47004470G>T	ENST00000360943.5	+	7	1174	c.1039G>T	c.(1039-1041)Gac>Tac	p.D347Y		NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	347					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)										GACAGAGACAGACCTTCATGG	0.552																																						ENST00000360943.5																			0											c.(1039-1041)Gac>Tac		ubiquitin-conjugating enzyme E2Z							79	70	73					17																	47004470		2203	4300	6503	SO:0001583	missense	65264				apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity	g.chr17:47004470G>T	BC015890	CCDS11540.2	17q21.32	2010-01-14	2007-07-18		ENSG00000159202	ENSG00000159202		"Ubiquitin-conjugating enzymes E2"	25847	protein-coding gene	gene with protein product	"UBA6-specific enzyme E2"	611362				17597759	Standard	NM_023079		Approved	FLJ13855, USE1	uc002ioi.3	Q9H832	OTTHUMG00000150521	ENST00000360943.5:c.1039G>T	17.37:g.47004470G>T	ENSP00000354201:p.Asp347Tyr						p.D347Y	NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN			7	1174	+			347					A6N8M6|A6NC60|Q7L354|Q8TCM4|Q9H893	Missense_Mutation	SNP	ENST00000360943.5	37	c.1039G>T	CCDS11540.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200941	0.79015	.	.	ENSG00000159202	ENST00000360943;ENST00000405215	T	0.80214	-1.35	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.88588	0.6477	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.88687	0.3206	10	0.72032	D	0.01	-7.0194	19.2517	0.93926	0.0:0.0:1.0:0.0	.	347	Q9H832	UBE2Z_HUMAN	Y	347;280	ENSP00000354201:D347Y	ENSP00000354201:D347Y	D	+	1	0	UBE2Z	44359469	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.100000	0.94213	2.880000	0.98712	0.650000	0.86243	GAC		0.552	UBE2Z-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318724.2	NM_023079		10	9	1	0	2.17888e-05	1	2.24846e-05	10	9					T	47004470	G	T	47004470	3	4	435	1	0	0	0	0	1	0	0	0	16875	942	33	5	1065	5	UBE2Z	17	47004470	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31805	47004470	34190740	7475	28400											
SNF8	11267	broad.mit.edu	37	chr17	47018301	47018301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacaggccagcggatccaCgccaatggttgcacacatgt	10	8	10	13	2	0	0	0	0	0	0	1	1	1	1	3	3	3	2	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:47018301C>T	ENST00000502492.1	-	3	611	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	SNF8_ENST00000290330.3_Missense_Mutation_p.V77M			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	77					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.V77M(1)		breast(1)|endometrium(1)|lung(1)	3						AGCGGATCCACGCCAATGGTT	0.507																																						ENST00000502492.1																			1	Substitution - Missense(1)	p.V77M(1)	endometrium(1)	breast(1)|endometrium(1)|lung(1)	3						c.(229-231)Gtg>Atg		SNF8, ESCRT-II complex subunit							140	122	128					17																	47018301		2203	4300	6503	SO:0001583	missense	11267				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	g.chr17:47018301C>T	AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.229G>A	17.37:g.47018301C>T	ENSP00000421380:p.Val77Met					SNF8_ENST00000290330.3_Missense_Mutation_p.V77M	p.V77M			Q96H20	SNF8_HUMAN			3	611	-			77					Q8IXY3|Q9UN50	Missense_Mutation	SNP	ENST00000502492.1	37	c.229G>A	CCDS11541.1	.	.	.	.	.	.	.	.	.	.	c	32	5.189238	0.94923	.	.	ENSG00000159210	ENST00000502492;ENST00000290330;ENST00000510558	.	.	.	5.46	5.46	0.80206	.	0.124936	0.53938	D	0.000049	D	0.84497	0.5485	M	0.91717	3.235	0.80722	D	1	D;D	0.61697	0.988;0.99	P;P	0.60345	0.799;0.873	D	0.87529	0.2451	9	0.87932	D	0	-24.5763	19.0882	0.93215	0.0:1.0:0.0:0.0	.	77;77	Q96H20-2;Q96H20	.;SNF8_HUMAN	M	77	.	ENSP00000290330:V77M	V	-	1	0	SNF8	44373300	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.334000	0.79224	2.844000	0.97970	0.651000	0.88453	GTG		0.507	SNF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361172.1	NM_007241		27	40	0	0	0	1	0	27	40					T	47018301	C	T	47018301	3	4	435	1	0	0	0	0	1	0	0	0	14846	536	19	1	571	1	SNF8	17	47018301	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13831	47018301	34176909	7476	28401											
IGF2BP1	10642	broad.mit.edu	37	chr17	47115612	47115612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgatgagcagatagcacagGgacctgagaatgggcgccga	12	4	15	10	3	0	3	0	2	0	2	0	7	0	4	3	2	2	2	3	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:47115612G>A	ENST00000290341.3	+	6	818	c.484G>A	c.(484-486)Gga>Aga	p.G162R	IGF2BP1_ENST00000431824.2_Intron|RNU6-826P_ENST00000516827.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	162					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GATAGCACAGGGACCTGAGAA	0.632																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(484-486)Gga>Aga		insulin-like growth factor 2 mRNA binding protein 1							57	63	61					17																	47115612		2203	4300	6503	SO:0001583	missense	10642				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	g.chr17:47115612G>A	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.484G>A	17.37:g.47115612G>A	ENSP00000290341:p.Gly162Arg					IGF2BP1_ENST00000431824.2_Intron	p.G162R	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			6	818	+			162					C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.484G>A	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031091	0.35797	.	.	ENSG00000159217	ENST00000290341	T	0.19806	2.12	5.55	5.55	0.83447	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.41236	1.265	0.80722	D	1	B	0.19935	0.04	B	0.20955	0.032	T	0.05022	-1.0911	10	0.08179	T	0.78	-13.202	12.4638	0.55747	0.0773:0.0:0.9227:0.0	.	162	Q9NZI8	IF2B1_HUMAN	R	162	ENSP00000290341:G162R	ENSP00000290341:G162R	G	+	1	0	IGF2BP1	44470611	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	4.857000	0.62939	2.585000	0.87301	0.655000	0.94253	GGA		0.632	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		8	50	0	0	0	1	0	8	50					A	47115612	G	A	47115612	3	1	435	1	0	0	0	0	1	0	0	0	7573	1233	43	3	506	3	IGF2BP1	17	47115612	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	97311	47115612	34079598	7477	28402											
B4GALNT2	124872	broad.mit.edu	37	chr17	47247084	47247084	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaccatctccaatgtgcCgcataaaggtgtgagggcat	13	8	11	9	1	1	2	0	1	1	1	2	2	1	2	3	2	2	2	3	2	5	1	rs147352919		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:47247084C>T	ENST00000300404.2	+	11	1754	c.1695C>T	c.(1693-1695)gcC>gcT	p.A565A	B4GALNT2_ENST00000393354.2_Silent_p.A505A|RP11-708H21.4_ENST00000575159.1_lincRNA|B4GALNT2_ENST00000504681.1_Silent_p.A479A	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	565					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TCCAATGTGCCGCATAAAGGT	0.512																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1693-1695)gcC>gcT		beta-1,4-N-acetyl-galactosaminyl transferase 2		C	,,	1,4405	2.1+/-5.4	0,1,2202	62	51	55		1515,1437,1695	-0.8	0	17	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	B4GALNT2	NM_001159387.1,NM_001159388.1,NM_153446.2	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	505/507,479/481,565/567	47247084	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47247084C>T	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1695C>T	17.37:g.47247084C>T						B4GALNT2_ENST00000393354.2_Silent_p.A505A|B4GALNT2_ENST00000504681.1_Silent_p.A479A	p.A565A	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		11	1754	+			565					B4DZE4|Q14CP1|Q86Y40	Silent	SNP	ENST00000300404.2	37	c.1695C>T	CCDS11544.1																																																																																				0.512	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		12	31	0	0	0	1	0	12	31					T	47247084	C	T	47247084	2	4	435	1	0	0	0	0	0	0	0	1	1267	639	23	2		2	B4GALNT2	17	47247084	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	131472	47247084	33948126	7478	28403											
ZNF652	22834	broad.mit.edu	37	chr17	47376203	47376203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggatagggcttctcgcCtgtgtgagttctgcggtgtc	5	13	14	9	2	2	1	0	1	2	0	4	2	2	2	1	3	1	2	1	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:47376203C>A	ENST00000362063.2	-	6	1711	c.1393G>T	c.(1393-1395)Ggc>Tgc	p.G465C	ZNF652_ENST00000430262.2_Missense_Mutation_p.G465C	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			GGCTTCTCGCCTGTGTGAGTT	0.537																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1393-1395)Ggc>Tgc		zinc finger protein 652							70	61	64					17																	47376203		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47376203C>A	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"Zinc fingers, C2H2-type"	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.1393G>T	17.37:g.47376203C>A	ENSP00000354686:p.Gly465Cys					ZNF652_ENST00000430262.2_Missense_Mutation_p.G465C	p.G465C	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		6	1711	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		465					A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.1393G>T	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712011	0.89112	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.26660	1.72;1.72	4.51	4.51	0.55191	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65170	-0.6233	10	0.87932	D	0	-14.5951	17.3725	0.87382	0.0:1.0:0.0:0.0	.	465	Q9Y2D9	ZN652_HUMAN	C	465	ENSP00000354686:G465C;ENSP00000416305:G465C	ENSP00000354686:G465C	G	-	1	0	ZNF652	44731202	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.589000	0.82641	2.504000	0.84457	0.491000	0.48974	GGC		0.537	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		21	18	1	0	1.96292e-10	1	2.09789e-10	21	18					A	47376203	C	A	47376203	3	1	435	1	0	0	0	0	1	0	0	0	18062	681	24	5	431	5	ZNF652	17	47376203	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	129119	47376203	33819007	7479	28404											
NGFR	4804	broad.mit.edu	37	chr17	47583668	47583668	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctgcgctcaggcgtgacGttctccgacgtggtgagcgc	4	8	15	14	7	2	2	1	2	1	0	3	3	2	2	2	2	2	3	2	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:47583668G>A	ENST00000172229.3	+	3	341	c.216G>A	c.(214-216)acG>acA	p.T72T	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_5'UTR	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	72					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CAGGCGTGACGTTCTCCGACG	0.677																																						ENST00000172229.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17						c.(214-216)acG>acA		nerve growth factor receptor							25	29	28					17																	47583668		2195	4281	6476	SO:0001819	synonymous_variant	4804				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		g.chr17:47583668G>A	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"Tumor necrosis factor receptor superfamily", "CD molecules"	7809	protein-coding gene	gene with protein product	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	162010	"nerve growth factor receptor (TNFR superfamily, member 16)"			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.216G>A	17.37:g.47583668G>A						RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_5'UTR	p.T72T	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN			3	341	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		72					B2R961|B4E096	Silent	SNP	ENST00000172229.3	37	c.216G>A	CCDS11549.1																																																																																				0.677	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			13	19	0	0	0	1	0	13	19					A	47583668	G	A	47583668	2	1	435	1	0	0	0	0	0	0	0	1	10396	1132	40	1		1	NGFR	17	47583668	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	207465	47583668	33611542	7480	28405											
SPOP	8405	broad.mit.edu	37	chr17	47685270	47685270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatttcatgttcaaacatgGcactaaaaaccggagaacga	16	8	7	10	2	2	1	2	0	0	1	2	3	2	1	2	2	3	2	2	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:47685270G>A	ENST00000393328.2	-	8	1045	c.680C>T	c.(679-681)gCc>gTc	p.A227V	SPOP_ENST00000347630.2_Missense_Mutation_p.A227V|SPOP_ENST00000503676.1_Missense_Mutation_p.A227V|SPOP_ENST00000393331.3_Missense_Mutation_p.A227V|SPOP_ENST00000504102.1_Missense_Mutation_p.A227V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	227	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTCAAACATGGCACTAAAAAC	0.408										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(679-681)gCc>gTc		speckle-type POZ protein							245	235	238					17																	47685270		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47685270G>A	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.680C>T	17.37:g.47685270G>A	ENSP00000377001:p.Ala227Val	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.A227V|SPOP_ENST00000504102.1_Missense_Mutation_p.A227V|SPOP_ENST00000503676.1_Missense_Mutation_p.A227V|SPOP_ENST00000393328.2_Missense_Mutation_p.A227V	p.A227V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			9	1150	-			227			BTB.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.680C>T	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	36	5.891940	0.97074	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581	T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	4.99	4.99	0.66335	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.71048	0.3294	M	0.90198	3.095	0.80722	D	1	P	0.46064	0.872	B	0.34180	0.177	T	0.80859	-0.1194	10	0.62326	D	0.03	-13.2312	18.42	0.90587	0.0:0.0:1.0:0.0	.	227	O43791	SPOP_HUMAN	V	227;227;227;227;111;227;180;227;227	ENSP00000377001:A227V;ENSP00000377004:A227V;ENSP00000240327:A227V;ENSP00000425905:A227V;ENSP00000420908:A227V;ENSP00000426986:A227V;ENSP00000420960:A227V	ENSP00000240327:A227V	A	-	2	0	SPOP	45040269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.573000	0.98181	2.756000	0.94617	0.561000	0.74099	GCC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		4	131	0	0	0	1	0	4	131					A	47685270	G	A	47685270	3	1	435	1	0	0	0	0	1	0	0	0	15083	1203	42	3	460	3	SPOP	17	47685270	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	101602	47685270	33509940	7481	28406											
MYST2	11143	broad.mit.edu	37	chr17	47899039	47899039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaaaacctgtgcctgttgGccaaactttttctggaccac	9	11	8	13	0	1	0	0	0	1	0	1	1	1	1	5	2	3	1	5	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:47899039G>A	ENST00000259021.4	+	11	1553	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	KAT7_ENST00000435742.2_Missense_Mutation_p.A239T|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000424009.2_Missense_Mutation_p.A395T|KAT7_ENST00000510819.1_Missense_Mutation_p.A256T|KAT7_ENST00000503935.2_Missense_Mutation_p.A269T|KAT7_ENST00000509773.1_Missense_Mutation_p.A315T|KAT7_ENST00000454930.2_Missense_Mutation_p.A286T	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	425	MYST-type HAT.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GTGCCTGTTGGCCAAACTTTT	0.448																																						ENST00000503935.2																			0											c.(805-807)Gcc>Acc		K(lysine) acetyltransferase 7							113	105	108					17																	47899039		2203	4300	6503	SO:0001583	missense	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47899039G>A	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17016	protein-coding gene	gene with protein product	"histone acetyltransferase binding to ORC1"	609880	"MYST histone acetyltransferase 2"	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.1273G>A	17.37:g.47899039G>A	ENSP00000259021:p.Ala425Thr					KAT7_ENST00000259021.4_Missense_Mutation_p.A425T|KAT7_ENST00000510819.1_Missense_Mutation_p.A256T|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000435742.2_Missense_Mutation_p.A239T|KAT7_ENST00000424009.2_Missense_Mutation_p.A395T|KAT7_ENST00000509773.1_Missense_Mutation_p.A315T|KAT7_ENST00000454930.2_Missense_Mutation_p.A286T	p.A269T			O95251	MYST2_HUMAN			11	1841	+			425					B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	c.805G>A	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	G	34	5.410320	0.96072	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.80639	0.4661	M	0.80746	2.51	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.996;0.999;0.999;0.999;0.998	D	0.83682	0.0172	9	0.87932	D	0	-11.7956	17.729	0.88372	0.0:0.0:1.0:0.0	.	388;256;315;286;425;395	B4DGY4;B4DFE0;B4DFB4;E7ER15;O95251;G5E9K7	.;.;.;.;KAT7_HUMAN;.	T	425;286;315;256;395;269;239	.	ENSP00000259021:A425T	A	+	1	0	KAT7	45254038	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.652000	0.98499	2.496000	0.84212	0.563000	0.77884	GCC		0.448	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		32	61	0	0	0	1	0	32	61					A	47899039	G	A	47899039	3	1	435	1	0	0	0	0	1	0	0	0	10103	1203	42	3	1315	3	MYST2	17	47899039	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	213769	47899039	33296171	7482	28407											
TAC4	255061	broad.mit.edu	37	chr17	47925338	47925338	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgccacagtgcacacGgacagctccatcaggagaag	12	5	10	14	1	2	1	2	0	0	1	3	3	3	2	3	2	3	2	3	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:47925338G>A	ENST00000334568.4	-	1	41	c.42C>T	c.(40-42)tcC>tcT	p.S14S	RP11-304F15.3_ENST00000376609.1_RNA|TAC4_ENST00000352793.2_Silent_p.S14S|TAC4_ENST00000326219.5_Silent_p.S14S|TAC4_ENST00000436235.1_Silent_p.S14S|TAC4_ENST00000398154.1_Silent_p.S14S	NM_170685.2	NP_733786.2			tachykinin 4 (hemokinin)											breast(1)|large_intestine(1)|lung(3)	5						CAGTGCACACGGACAGCTCCA	0.577																																						ENST00000334568.4																			0				breast(1)|large_intestine(1)|lung(3)	5						c.(40-42)tcC>tcT		tachykinin 4 (hemokinin)							94	95	95					17																	47925338		2120	4249	6369	SO:0001819	synonymous_variant	255061				regulation of blood pressure	extracellular region		g.chr17:47925338G>A	AF521560	CCDS42357.1, CCDS42358.1, CCDS42359.1, CCDS42360.1, CCDS45727.1	17q21.33	2014-01-30			ENSG00000176358	ENSG00000176358		"Endogenous ligands"	16641	protein-coding gene	gene with protein product		607833				11062498, 12383518	Standard	NM_170685		Approved	HK-1, Pptc, PPT-C	uc002ipp.1	Q86UU9	OTTHUMG00000161830	ENST00000334568.4:c.42C>T	17.37:g.47925338G>A						TAC4_ENST00000398154.1_Silent_p.S14S|RP11-304F15.3_ENST00000376609.1_RNA|TAC4_ENST00000326219.5_Silent_p.S14S|TAC4_ENST00000352793.2_Silent_p.S14S|TAC4_ENST00000436235.1_Silent_p.S14S	p.S14S	NM_170685.2	NP_733786.2	Q86UU9	TKN4_HUMAN			1	41	-			14						Silent	SNP	ENST00000334568.4	37	c.42C>T	CCDS42357.1																																																																																				0.577	TAC4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366198.1	NM_170685		13	22	0	0	0	1	0	13	22					A	47925338	G	A	47925338	2	1	435	1	0	0	0	0	0	0	0	1	15497	1103	39	2		2	TAC4	17	47925338	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26299	47925338	33269872	7483	28408											
DLX3	1747	broad.mit.edu	37	chr17	48069204	48069204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtttcttgaacttggaacGgcggttctggaaccagattt	9	13	12	7	2	2	2	0	1	2	1	2	5	2	4	1	4	3	2	1	4	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48069204G>T	ENST00000434704.2	-	3	766	c.541C>A	c.(541-543)Cgt>Agt	p.R181S	DLX3_ENST00000512495.2_Missense_Mutation_p.R61S	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	181					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						AACTTGGAACGGCGGTTCTGG	0.522																																						ENST00000434704.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(541-543)Cgt>Agt		distal-less homeobox 3							86	84	84					17																	48069204		2203	4300	6503	SO:0001583	missense	1747					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48069204G>T		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"Homeoboxes / ANTP class : NKL subclass"	2916	protein-coding gene	gene with protein product		600525	"distal-less homeo box 3"			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.541C>A	17.37:g.48069204G>T	ENSP00000389870:p.Arg181Ser					DLX3_ENST00000512495.2_Missense_Mutation_p.R61S	p.R181S	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN			3	766	-			181					B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	c.541C>A	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009022	0.54361	.	.	ENSG00000064195	ENST00000434704;ENST00000512495	D;D	0.99304	-5.5;-5.72	4.38	3.34	0.38264	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	H	0.98833	4.345	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97767	1.0224	10	0.87932	D	0	-22.0913	8.9231	0.35623	0.0:0.0:0.6654:0.3346	.	181	O60479	DLX3_HUMAN	S	181;61	ENSP00000389870:R181S;ENSP00000449976:R61S	ENSP00000389870:R181S	R	-	1	0	DLX3	45424203	0.934000	0.31675	0.999000	0.59377	0.899000	0.52679	1.634000	0.37123	2.280000	0.76307	0.561000	0.74099	CGT		0.522	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			23	36	1	0	2.98393e-07	1	3.1252e-07	23	36					T	48069204	G	T	48069204	3	4	435	1	0	0	0	0	1	0	0	0	4572	1116	39	5	326	5	DLX3	17	48069204	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	143866	48069204	33126006	7484	28409											
ITGA3	3675	broad.mit.edu	37	chr17	48154745	48154745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgccttctttcctcagccCggggcctgccaagctaatga	6	11	9	15	2	2	1	1	1	1	0	4	1	3	1	5	2	3	1	5	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48154745C>T	ENST00000320031.8	+	16	2403	c.2073C>T	c.(2071-2073)ccC>ccT	p.P691P	ITGA3_ENST00000007722.7_Silent_p.P691P	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	691					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TTCCTCAGCCCGGGGCCTGCC	0.592																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(2071-2073)ccC>ccT		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							95	88	91					17																	48154745		2203	4300	6503	SO:0001819	synonymous_variant	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48154745C>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2073C>T	17.37:g.48154745C>T						ITGA3_ENST00000007722.7_Silent_p.P691P	p.P691P	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			16	2403	+			691					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	ENST00000320031.8	37	c.2073C>T	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	T	7.030	0.560340	0.13498	.	.	ENSG00000005884	ENST00000506827	.	.	.	5.32	0.0401	0.14207	.	.	.	.	.	T	0.30198	0.0757	.	.	.	0.23266	N	0.998011	.	.	.	.	.	.	T	0.26744	-1.0094	4	.	.	.	.	5.8095	0.18457	0.0:0.2241:0.257:0.5189	.	.	.	.	W	70	.	.	R	+	1	2	ITGA3	45509744	0.020000	0.18652	0.052000	0.19188	0.010000	0.07245	-0.468000	0.06656	-0.466000	0.06943	-2.750000	0.00124	CGG		0.592	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		19	26	0	0	0	1	0	19	26					T	48154745	C	T	48154745	2	4	435	1	0	0	0	0	0	0	0	1	7877	639	23	2		2	ITGA3	17	48154745	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	85541	48154745	33040465	7485	28410											
ITGA3	3675	broad.mit.edu	37	chr17	48166588	48166588	+	3'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaccctgcccaccaagaagCactgggtgaccagctggcag	10	4	12	15	0	0	2	0	1	0	1	0	2	0	2	4	2	3	4	4	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48166588C>T	ENST00000320031.8	+	0	3632				ITGA3_ENST00000007722.7_Missense_Mutation_p.H1054Y	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)						blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CACCAAGAAGCACTGGGTGAC	0.597																																						ENST00000007722.7																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(3160-3162)Cac>Tac		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							125	108	114					17																	48166588		2203	4300	6503	SO:0001624	3_prime_UTR_variant	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48166588C>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.*146C>T	17.37:g.48166588C>T						ITGA3_ENST00000320031.8_3'UTR	p.H1054Y			P26006	ITA3_HUMAN			25	3160	+			0					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.3160C>T	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.531147	0.64972	.	.	ENSG00000005884	ENST00000007722	T	0.67345	-0.26	4.77	4.77	0.60923	.	0.497801	0.20733	N	0.086673	T	0.58991	0.2161	.	.	.	0.80722	D	1	B	0.24823	0.112	B	0.22880	0.042	T	0.58679	-0.7594	9	0.48119	T	0.1	.	15.048	0.71841	0.0:1.0:0.0:0.0	.	1054	P26006-1	.	Y	1054	ENSP00000007722:H1054Y	ENSP00000007722:H1054Y	H	+	1	0	ITGA3	45521587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.477000	0.53151	2.353000	0.79882	0.591000	0.81541	CAC		0.597	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		24	27	0	0	0	1	0	24	27					T	48166588	C	T	48166588	1	4	435	0	1	0	0	0	0	0	0	0	7877	710	25	3		3	ITGA3	17	48166588	3'UTR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11843	48166588	33028622	7486	28411											
XYLT2	64132	broad.mit.edu	37	chr17	48431803	48431803	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcatccagtgggatgagagCcaagcccagcagcccatgga	11	4	14	12	0	0	1	0	1	0	1	1	4	1	3	4	3	4	2	4	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48431803C>T	ENST00000017003.2	+	3	712	c.663C>T	c.(661-663)agC>agT	p.S221S	XYLT2_ENST00000507602.1_Silent_p.S221S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	221					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GGGATGAGAGCCAAGCCCAGC	0.662																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(661-663)agC>agT		xylosyltransferase II							33	35	35					17																	48431803		2203	4300	6503	SO:0001819	synonymous_variant	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48431803C>T	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.663C>T	17.37:g.48431803C>T						XYLT2_ENST00000507602.1_Silent_p.S221S	p.S221S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			3	712	+	Breast(11;7.18e-19)		221					Q6UY41|Q86V00	Silent	SNP	ENST00000017003.2	37	c.663C>T	CCDS11563.1																																																																																				0.662	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		4	11	0	0	0	1	0	4	11					T	48431803	C	T	48431803	2	4	435	1	0	0	0	0	0	0	0	1	17461	738	26	3		3	XYLT2	17	48431803	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	265215	48431803	32763407	7487	28412											
EME1	146956	broad.mit.edu	37	chr17	48456920	48456920	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaggctgtggctgaggcGcccttcaagtgagtaacccc	10	7	12	12	1	1	2	1	2	0	0	1	2	1	2	3	3	1	3	3	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48456920G>A	ENST00000338165.4	+	7	1420	c.1338G>A	c.(1336-1338)gcG>gcA	p.A446A	EME1_ENST00000393271.2_Silent_p.A459A|EME1_ENST00000511648.2_Silent_p.A459A	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	446					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGGCTGAGGCGCCCTTCAAGT	0.547								Direct reversal of damage;Homologous recombination																														ENST00000393271.2																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19						c.(1375-1377)gcG>gcA	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease 1							60	55	57					17																	48456920		2203	4300	6503	SO:0001819	synonymous_variant	146956				DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding	g.chr17:48456920G>A	BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"	610885	"essential meiotic endonuclease 1 homolog 1 (S. pombe)"			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.1338G>A	17.37:g.48456920G>A						EME1_ENST00000338165.4_Silent_p.A446A|EME1_ENST00000511648.2_Silent_p.A459A	p.A459A	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		7	1459	+	Breast(11;5.62e-19)		446					Q96N62	Silent	SNP	ENST00000338165.4	37	c.1377G>A	CCDS11565.1	.	.	.	.	.	.	.	.	.	.	G	8.237	0.805988	0.16467	.	.	ENSG00000154920	ENST00000510246	T	0.34859	1.34	5.91	-10.8	0.00216	.	0.206543	0.40469	N	0.001095	T	0.21962	0.0529	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46105	-0.9215	7	0.21014	T	0.42	-0.3158	7.049	0.25063	0.6329:0.1674:0.1153:0.0844	.	.	.	.	T	258	ENSP00000425567:A258T	ENSP00000425567:A258T	A	+	1	0	EME1	45811919	0.000000	0.05858	0.152000	0.22495	0.813000	0.45954	-1.828000	0.01702	-1.484000	0.01856	-0.302000	0.09304	GCC		0.547	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463		4	8	0	0	0	1	0	4	8					A	48456920	G	A	48456920	2	1	435	1	0	0	0	0	0	0	0	1	5088	1074	38	1		1	EME1	17	48456920	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25117	48456920	32738290	7488	28413											
CHAD	1101	broad.mit.edu	37	chr17	48542708	48542708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtggggaacttgcagctgCggaaggcgtccgtgtcacgg	6	8	18	9	4	1	0	1	0	0	0	2	2	2	2	1	6	4	2	1	6	2	1	rs146998244		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48542708C>T	ENST00000508540.1	-	3	1183	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	CHAD_ENST00000258969.4_Missense_Mutation_p.R344H|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000541920.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	344	LRRCT.				bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CTTGCAGCTGCGGAAGGCGTC	0.607																																						ENST00000508540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15						c.(1030-1032)cGc>cAc		chondroadherin		C	HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	62	55	57		1031,	5.1	1	17	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron	CHAD,ACSF2	NM_001267.2,NM_025149.4	29,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,	344/360,	48542708	2,13004	2203	4300	6503	SO:0001583	missense	1101				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr17:48542708C>T	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1909	protein-coding gene	gene with protein product	"chondroadherin proteoglycan"	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.1031G>A	17.37:g.48542708C>T	ENSP00000423812:p.Arg344His					ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.R344H|ACSF2_ENST00000504392.1_Intron	p.R344H	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		3	1183	-	Breast(11;1.93e-18)		344			LRRCT.		A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	37	c.1031G>A	CCDS11568.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.045357|4.045357	0.75846|0.75846	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000136457|ENSG00000136457	ENST00000506187|ENST00000508540;ENST00000258969	.|T;T	.|0.55930	.|0.49;0.49	5.12|5.12	5.12|5.12	0.69794|0.69794	.|Cysteine-rich flanking region, C-terminal (1);	.|0.324515	.|0.33005	.|N	.|0.005398	T|T	0.56659|0.56659	0.2000|0.2000	L|L	0.58810|0.58810	1.83|1.83	0.42695|0.42695	D|D	0.993598|0.993598	.|D	.|0.62365	.|0.991	.|P	.|0.46320	.|0.512	T|T	0.60806|0.60806	-0.7190|-0.7190	5|10	.|0.44086	.|T	.|0.13	.|.	18.5806|18.5806	0.91170|0.91170	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|344	.|O15335	.|CHAD_HUMAN	T|H	27|344	.|ENSP00000423812:R344H;ENSP00000258969:R344H	.|ENSP00000258969:R344H	A|R	-|-	1|2	0|0	CHAD|CHAD	45897707|45897707	0.946000|0.946000	0.32159|0.32159	0.994000|0.994000	0.49952|0.49952	0.942000|0.942000	0.58702|0.58702	1.975000|1.975000	0.40569|0.40569	2.380000|2.380000	0.81148|0.81148	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.607	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		14	20	0	0	0	1	0	14	20					T	48542708	C	T	48542708	3	4	435	1	0	0	0	0	1	0	0	0	3310	768	27	1	52	1	CHAD	17	48542708	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	85788	48542708	32652502	7489	28414											
SPATA20	64847	broad.mit.edu	37	chr17	48628950	48628950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caactatgccaccaatggtgCcaagttcctgaagcggcaca	12	7	9	13	1	0	1	0	1	0	0	1	1	1	1	4	2	4	2	4	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48628950C>T	ENST00000356488.4	+	12	1690	c.1607C>T	c.(1606-1608)gCc>gTc	p.A536V	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000006658.6_Missense_Mutation_p.A552V|SPATA20_ENST00000393244.3_Missense_Mutation_p.A492V	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	536					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			ACCAATGGTGCCAAGTTCCTG	0.602																																						ENST00000006658.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1654-1656)gCc>gTc		spermatogenesis associated 20							88	72	78					17																	48628950		2203	4300	6503	SO:0001583	missense	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48628950C>T		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"hypothetical protein FLJ21347"	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1607C>T	17.37:g.48628950C>T	ENSP00000348878:p.Ala536Val					SPATA20_ENST00000356488.4_Missense_Mutation_p.A536V|SPATA20_ENST00000393244.3_Missense_Mutation_p.A492V|SPATA20_ENST00000511937.1_3'UTR	p.A552V	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		13	1775	+	Breast(11;1.23e-18)		536					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	c.1655C>T	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989915	0.93106	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.41758	0.99;0.99;0.99	5.39	5.39	0.77823	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.053941	0.64402	D	0.000001	T	0.51941	0.1704	L	0.58428	1.81	0.80722	D	1	P;P	0.47106	0.89;0.87	B;P	0.49477	0.408;0.612	T	0.46610	-0.9179	10	0.36615	T	0.2	-16.1375	19.158	0.93518	0.0:1.0:0.0:0.0	.	536;552	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	V	552;536;492	ENSP00000006658:A552V;ENSP00000348878:A536V;ENSP00000376935:A492V	ENSP00000006658:A552V	A	+	2	0	SPATA20	45983949	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.797000	0.62503	2.538000	0.85594	0.561000	0.74099	GCC		0.602	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		30	34	0	0	0	1	0	30	34					T	48628950	C	T	48628950	3	4	435	1	0	0	0	0	1	0	0	0	15005	739	26	3	1705	3	SPATA20	17	48628950	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	86242	48628950	32566260	7490	28415											
CACNA1G	8913	broad.mit.edu	37	chr17	48646294	48646294	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgaccctgggcatgttccgGccatgcgaggacatcgcctg	6	8	14	13	3	0	1	0	1	0	0	2	3	1	2	4	3	1	2	4	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48646294G>A	ENST00000359106.5	+	2	306	c.306G>A	c.(304-306)cgG>cgA	p.R102R	CACNA1G_ENST00000514079.1_Silent_p.R102R|CACNA1G_ENST00000513964.1_Silent_p.R102R|CACNA1G_ENST00000507609.1_Silent_p.R102R|CACNA1G_ENST00000354983.4_Silent_p.R102R|CACNA1G_ENST00000513689.2_Silent_p.R102R|CACNA1G_ENST00000429973.2_Silent_p.R102R|CACNA1G_ENST00000360761.4_Silent_p.R102R|CACNA1G_ENST00000416767.4_Silent_p.R102R|CACNA1G_ENST00000507336.1_Silent_p.R102R|CACNA1G_ENST00000358244.5_Silent_p.R102R|CACNA1G_ENST00000512389.1_Silent_p.R102R|CACNA1G_ENST00000510366.1_Silent_p.R102R|CACNA1G_ENST00000352832.5_Silent_p.R102R|CACNA1G_ENST00000514181.1_Silent_p.R102R|CACNA1G_ENST00000503485.1_Silent_p.R102R|CACNA1G_ENST00000442258.2_Silent_p.R102R|CACNA1G_ENST00000507896.1_Silent_p.R102R|CACNA1G_ENST00000505165.1_Silent_p.R102R|CACNA1G_ENST00000502264.1_Silent_p.R102R|CACNA1G_ENST00000514717.1_Silent_p.R102R|CACNA1G_ENST00000507510.2_Silent_p.R102R|CACNA1G_ENST00000515165.1_Silent_p.R102R|CACNA1G_ENST00000510115.1_Silent_p.R102R|CACNA1G_ENST00000515765.1_Silent_p.R102R|CACNA1G_ENST00000515411.1_Silent_p.R102R	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	102					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCATGTTCCGGCCATGCGAGG	0.577																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(304-306)cgG>cgA		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						87	86	86					17																	48646294		2168	4260	6428	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48646294G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.306G>A	17.37:g.48646294G>A						CACNA1G_ENST00000513689.2_Silent_p.R102R|CACNA1G_ENST00000507510.2_Silent_p.R102R|CACNA1G_ENST00000512389.1_Silent_p.R102R|CACNA1G_ENST00000514079.1_Silent_p.R102R|CACNA1G_ENST00000510115.1_Silent_p.R102R|CACNA1G_ENST00000510366.1_Silent_p.R102R|CACNA1G_ENST00000515411.1_Silent_p.R102R|CACNA1G_ENST00000515765.1_Silent_p.R102R|CACNA1G_ENST00000507896.1_Silent_p.R102R|CACNA1G_ENST00000503485.1_Silent_p.R102R|CACNA1G_ENST00000358244.5_Silent_p.R102R|CACNA1G_ENST00000513964.1_Silent_p.R102R|CACNA1G_ENST00000505165.1_Silent_p.R102R|CACNA1G_ENST00000515165.1_Silent_p.R102R|CACNA1G_ENST00000442258.2_Silent_p.R102R|CACNA1G_ENST00000360761.4_Silent_p.R102R|CACNA1G_ENST00000502264.1_Silent_p.R102R|CACNA1G_ENST00000514181.1_Silent_p.R102R|CACNA1G_ENST00000507336.1_Silent_p.R102R|CACNA1G_ENST00000507609.1_Silent_p.R102R|CACNA1G_ENST00000359106.5_Silent_p.R102R|CACNA1G_ENST00000514717.1_Silent_p.R102R|CACNA1G_ENST00000429973.2_Silent_p.R102R|CACNA1G_ENST00000354983.4_Silent_p.R102R|CACNA1G_ENST00000416767.4_Silent_p.R102R	p.R102R	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		2	678	+	Breast(11;6.7e-17)		102					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.306G>A	CCDS45730.1																																																																																				0.577	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		19	29	0	0	0	1	0	19	29					A	48646294	G	A	48646294	2	1	435	1	0	0	0	0	0	0	0	1	2544	1190	42	3		3	CACNA1G	17	48646294	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17344	48646294	32548916	7491	28416											
CACNA1G	8913	broad.mit.edu	37	chr17	48680423	48680423	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcaggcgtacctgcggagCagttggaacgtgctggacgg	8	6	18	9	4	0	0	0	0	0	0	0	4	0	3	1	5	6	5	1	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48680423C>T	ENST00000359106.5	+	21	4032	c.4032C>T	c.(4030-4032)agC>agT	p.S1344S	CACNA1G_ENST00000514079.1_Silent_p.S1344S|CACNA1G_ENST00000513964.1_Silent_p.S1344S|CACNA1G_ENST00000507609.1_Silent_p.S1344S|CACNA1G_ENST00000354983.4_Silent_p.S1321S|CACNA1G_ENST00000513689.2_Silent_p.S1344S|CACNA1G_ENST00000429973.2_Silent_p.S1344S|CACNA1G_ENST00000360761.4_Silent_p.S1321S|CACNA1G_ENST00000416767.4_Silent_p.S1344S|CACNA1G_ENST00000507336.1_Silent_p.S1344S|CACNA1G_ENST00000358244.5_Silent_p.S1321S|CACNA1G_ENST00000512389.1_Silent_p.S1344S|CACNA1G_ENST00000510366.1_Silent_p.S1344S|CACNA1G_ENST00000352832.5_Silent_p.S1321S|CACNA1G_ENST00000514181.1_Silent_p.S1344S|CACNA1G_ENST00000503485.1_Silent_p.S1344S|CACNA1G_ENST00000442258.2_Silent_p.S1321S|CACNA1G_ENST00000507896.1_Silent_p.S1344S|CACNA1G_ENST00000505165.1_Silent_p.S1344S|CACNA1G_ENST00000502264.1_Silent_p.S1321S|CACNA1G_ENST00000514717.1_Silent_p.S1321S|CACNA1G_ENST00000507510.2_Silent_p.S1344S|CACNA1G_ENST00000515165.1_Silent_p.S1344S|CACNA1G_ENST00000510115.1_Silent_p.S1321S|CACNA1G_ENST00000515765.1_Silent_p.S1344S|CACNA1G_ENST00000515411.1_Silent_p.S1344S	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1344					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACCTGCGGAGCAGTTGGAACG	0.647																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(3961-3963)agC>agT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						155	173	167					17																	48680423		2198	4280	6478	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48680423C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4032C>T	17.37:g.48680423C>T						CACNA1G_ENST00000513689.2_Silent_p.S1344S|CACNA1G_ENST00000507510.2_Silent_p.S1344S|CACNA1G_ENST00000512389.1_Silent_p.S1344S|CACNA1G_ENST00000514079.1_Silent_p.S1344S|CACNA1G_ENST00000510115.1_Silent_p.S1321S|CACNA1G_ENST00000510366.1_Silent_p.S1344S|CACNA1G_ENST00000515411.1_Silent_p.S1344S|CACNA1G_ENST00000515765.1_Silent_p.S1344S|CACNA1G_ENST00000507896.1_Silent_p.S1344S|CACNA1G_ENST00000503485.1_Silent_p.S1344S|CACNA1G_ENST00000358244.5_Silent_p.S1321S|CACNA1G_ENST00000513964.1_Silent_p.S1344S|CACNA1G_ENST00000505165.1_Silent_p.S1344S|CACNA1G_ENST00000515165.1_Silent_p.S1344S|CACNA1G_ENST00000442258.2_Silent_p.S1321S|CACNA1G_ENST00000360761.4_Silent_p.S1321S|CACNA1G_ENST00000502264.1_Silent_p.S1321S|CACNA1G_ENST00000514181.1_Silent_p.S1344S|CACNA1G_ENST00000507336.1_Silent_p.S1344S|CACNA1G_ENST00000507609.1_Silent_p.S1344S|CACNA1G_ENST00000359106.5_Silent_p.S1344S|CACNA1G_ENST00000514717.1_Silent_p.S1321S|CACNA1G_ENST00000429973.2_Silent_p.S1344S|CACNA1G_ENST00000354983.4_Silent_p.S1321S|CACNA1G_ENST00000416767.4_Silent_p.S1344S	p.S1321S	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		20	4335	+	Breast(11;6.7e-17)		1344					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.3963C>T	CCDS45730.1																																																																																				0.647	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		24	55	0	0	0	1	0	24	55					T	48680423	C	T	48680423	2	4	435	1	0	0	0	0	0	0	0	1	2544	709	25	3		3	CACNA1G	17	48680423	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	34129	48680423	32514787	7492	28417											
CACNA1G	8913	broad.mit.edu	37	chr17	48693726	48693726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttgtggcctttggtttcCgtcggttcttccaggacagg	5	14	12	10	2	1	0	0	0	1	0	4	1	3	1	3	5	1	2	3	5	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48693726C>T	ENST00000359106.5	+	28	5002	c.5002C>T	c.(5002-5004)Cgt>Tgt	p.R1668C	CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1675C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1623C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1668C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1634C|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1623C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1650C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1645C|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1657C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1634C|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1657C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1616C|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1634C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1650C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1634C|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1627C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1657C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1668C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1645C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1611C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1668C|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1668C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1634C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1657C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1650C	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1668					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTTTGGTTTCCGTCGGTTCTT	0.488																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(4900-4902)Cgt>Tgt		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						101	98	99					17																	48693726		1878	4102	5980	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48693726C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5002C>T	17.37:g.48693726C>T	ENSP00000352011:p.Arg1668Cys					CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1623C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1668C|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1657C|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1675C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1634C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1616C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1650C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1657C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1657C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1634C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1634C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1623C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1668C|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1668C|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1627C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1645C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1645C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1650C|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1657C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1668C|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1668C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1611C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1650C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1634C	p.R1634C	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		26	5272	+	Breast(11;6.7e-17)		1668					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.4900C>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	27.4	4.826651	0.90955	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54	5.07	5.07	0.68467	Ion transport (1);	0.237476	0.43747	D	0.000524	D	0.98651	0.9548	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.992;0.999;0.999;0.999;1.0;0.999;0.999;1.0;0.999;0.996;1.0;0.988;0.994;1.0;0.999;0.985;0.996;0.983;1.0;1.0;0.997;0.995;1.0;0.99;0.998	D	0.99870	1.1095	10	0.87932	D	0	.	18.4852	0.90825	0.0:1.0:0.0:0.0	.	1611;1623;1616;1650;1623;1650;1675;1634;1668;1657;1668;1645;1657;1657;1650;1657;1668;1645;1668;1634;1627;1634;1645;1668;1634	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	C	1645;1634;1634;1627;1645;1657;1623;1611;1616;1634;1668;1657;1623;1668;1634;1668;1650;1657;1675;1634;1668;1650;1650;1668;1657	ENSP00000353990:R1645C;ENSP00000339302:R1634C;ENSP00000347078:R1634C;ENSP00000409759:R1627C;ENSP00000425522:R1645C;ENSP00000426261:R1657C;ENSP00000425451:R1623C;ENSP00000422407:R1611C;ENSP00000426814:R1616C;ENSP00000427238:R1634C;ENSP00000423112:R1668C;ENSP00000420918:R1657C;ENSP00000426172:R1623C;ENSP00000423045:R1668C;ENSP00000427173:R1634C;ENSP00000426098:R1668C;ENSP00000425698:R1650C;ENSP00000426232:R1657C;ENSP00000423317:R1675C;ENSP00000350979:R1634C;ENSP00000352011:R1668C;ENSP00000414388:R1650C;ENSP00000423155:R1650C;ENSP00000422268:R1668C;ENSP00000421518:R1657C	ENSP00000339302:R1634C	R	+	1	0	CACNA1G	46048725	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.869000	0.69613	2.358000	0.79984	0.650000	0.86243	CGT		0.488	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		22	28	0	0	0	1	0	22	28					T	48693726	C	T	48693726	3	4	435	1	0	0	0	0	1	0	0	0	2544	652	23	2	5379	2	CACNA1G	17	48693726	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13303	48693726	32501484	7493	28418											
CACNA1G	8913	broad.mit.edu	37	chr17	48694872	48694872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaaatcgaggtcaacGcctcgctgcccatcaacccc	10	6	10	15	3	2	0	2	0	0	0	4	3	2	2	4	3	3	1	4	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48694872G>A	ENST00000359106.5	+	29	5095	c.5095G>A	c.(5095-5097)Gcc>Acc	p.A1699T	CACNA1G_ENST00000514079.1_Missense_Mutation_p.A1706T|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A1654T|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A1699T|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A1665T|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A1654T|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A1681T|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A1676T|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A1688T|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A1665T|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A1688T|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A1647T|CACNA1G_ENST00000352832.5_Missense_Mutation_p.A1665T|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A1681T|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A1665T|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A1658T|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A1688T|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A1699T|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A1676T|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A1642T|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A1699T|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A1699T|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A1665T|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A1688T|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A1681T	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1699					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.A1699T(1)|p.A1665T(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGAGGTCAACGCCTCGCTGCC	0.617																																						ENST00000352832.5																			2	Substitution - Missense(2)	p.A1699T(1)|p.A1665T(1)	large_intestine(2)	breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(4993-4995)Gcc>Acc		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						71	73	72					17																	48694872		2172	4268	6440	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48694872G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5095G>A	17.37:g.48694872G>A	ENSP00000352011:p.Ala1699Thr					CACNA1G_ENST00000513689.2_Missense_Mutation_p.A1654T|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A1699T|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A1688T|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A1706T|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A1665T|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A1647T|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A1681T|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A1688T|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A1688T|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A1665T|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A1665T|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A1654T|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A1699T|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A1699T|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A1658T|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A1676T|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A1676T|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A1681T|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A1688T|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A1699T|CACNA1G_ENST00000359106.5_Missense_Mutation_p.A1699T|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A1642T|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A1681T|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A1665T	p.A1665T	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		27	5365	+	Breast(11;6.7e-17)		1699					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.4993G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	35	5.532979	0.96446	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	5.02	5.02	0.67125	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.97870	0.9300	N	0.20986	0.625	0.80722	D	1	B;D;P;P;P;P;P;D;P;D;D;D;P;D;P;P;D;D;D;D;P;B;D;D;D	0.89917	0.176;0.997;0.897;0.831;0.942;0.941;0.9;0.988;0.9;1.0;0.997;0.962;0.764;1.0;0.9;0.635;0.994;0.984;0.994;0.995;0.613;0.432;0.977;0.997;1.0	B;D;P;P;P;P;P;P;P;D;P;P;P;D;P;B;P;P;D;D;B;B;P;D;D	0.97110	0.205;0.964;0.685;0.697;0.828;0.685;0.51;0.884;0.51;0.987;0.907;0.754;0.575;1.0;0.51;0.311;0.884;0.772;0.928;0.947;0.326;0.242;0.853;0.952;0.999	D	0.99804	1.1037	10	0.54805	T	0.06	.	18.3653	0.90389	0.0:0.0:1.0:0.0	.	1642;1654;1647;1681;1654;1681;1706;1665;1699;1688;1699;1676;1688;1688;1681;1688;1699;1676;1699;1665;1658;1665;1676;1699;1665	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	T	1676;1665;1665;1658;1676;1688;1654;1642;1647;1665;1699;1688;1654;1699;1665;1699;1681;1688;1706;1665;1699;1681;1681;1699;1688	ENSP00000353990:A1676T;ENSP00000339302:A1665T;ENSP00000347078:A1665T;ENSP00000409759:A1658T;ENSP00000425522:A1676T;ENSP00000426261:A1688T;ENSP00000425451:A1654T;ENSP00000422407:A1642T;ENSP00000426814:A1647T;ENSP00000427238:A1665T;ENSP00000423112:A1699T;ENSP00000420918:A1688T;ENSP00000426172:A1654T;ENSP00000423045:A1699T;ENSP00000427173:A1665T;ENSP00000426098:A1699T;ENSP00000425698:A1681T;ENSP00000426232:A1688T;ENSP00000423317:A1706T;ENSP00000350979:A1665T;ENSP00000352011:A1699T;ENSP00000414388:A1681T;ENSP00000423155:A1681T;ENSP00000422268:A1699T;ENSP00000421518:A1688T	ENSP00000339302:A1665T	A	+	1	0	CACNA1G	46049871	1.000000	0.71417	0.963000	0.40424	0.885000	0.51271	9.869000	0.99810	2.348000	0.79779	0.655000	0.94253	GCC		0.617	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		10	31	0	0	0	1	0	10	31					A	48694872	G	A	48694872	3	1	435	1	0	0	0	0	1	0	0	0	2544	1087	38	1	5476	1	CACNA1G	17	48694872	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1146	48694872	32500338	7494	28419											
ABCC3	8714	broad.mit.edu	37	chr17	48738336	48738336	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccggcgaggacgaggtgCtgctgggtgcccggcccagg	4	5	18	14	4	0	0	0	0	0	0	1	3	1	1	4	6	3	2	4	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48738336C>T	ENST00000285238.8	+	8	939	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	ABCC3_ENST00000427699.1_Silent_p.L287L	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	287					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GGACGAGGTGCTGCTGGGTGC	0.632																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(859-861)Ctg>Ttg		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						36	34	35					17																	48738336		2203	4300	6503	SO:0001819	synonymous_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48738336C>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.859C>T	17.37:g.48738336C>T						ABCC3_ENST00000427699.1_Silent_p.L287L	p.L287L	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		8	939	+			287					B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	c.859C>T	CCDS32681.1																																																																																				0.632	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		12	24	0	0	0	1	0	12	24					T	48738336	C	T	48738336	2	4	435	1	0	0	0	0	0	0	0	1	54	796	28	3		3	ABCC3	17	48738336	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	43464	48738336	32456874	7495	28420											
ABCC3	8714	broad.mit.edu	37	chr17	48753279	48753279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgggattatgccaaggcCgtggggctctgtaccacgct	6	11	13	11	2	2	0	0	0	2	0	2	1	2	1	3	4	2	3	3	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48753279C>T	ENST00000285238.8	+	22	2975	c.2895C>T	c.(2893-2895)gcC>gcT	p.A965A	ABCC3_ENST00000510891.1_3'UTR	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	965					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	ATGCCAAGGCCGTGGGGCTCT	0.592																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(2893-2895)gcC>gcT		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						84	75	78					17																	48753279		2203	4300	6503	SO:0001819	synonymous_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48753279C>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2895C>T	17.37:g.48753279C>T						ABCC3_ENST00000510891.1_3'UTR	p.A965A	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		22	2975	+			965					B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	c.2895C>T	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	C	8.222	0.802621	0.16397	.	.	ENSG00000108846	ENST00000513745	.	.	.	5.88	-11.8	0.00035	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49351	-0.8949	4	.	.	.	-4.8445	5.0324	0.14417	0.2008:0.501:0.1355:0.1627	.	.	.	.	C	114	.	.	R	+	1	0	ABCC3	46108278	0.000000	0.05858	0.004000	0.12327	0.827000	0.46813	-3.020000	0.00643	-2.748000	0.00376	-1.363000	0.01210	CGT		0.592	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		18	15	0	0	0	1	0	18	15					T	48753279	C	T	48753279	2	4	435	1	0	0	0	0	0	0	0	1	54	639	23	2		2	ABCC3	17	48753279	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14943	48753279	32441931	7496	28421											
TOB1	10140	broad.mit.edu	37	chr17	48940438	48940438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagatttctcattgaggcctCcataggctgcaaacacatca	13	10	7	11	0	2	2	2	1	1	1	4	2	3	2	2	2	2	2	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48940438C>T	ENST00000268957.3	-	3	1369	c.941G>A	c.(940-942)gGa>gAa	p.G314E	TOB1_ENST00000499247.2_Missense_Mutation_p.G314E|TOB1_ENST00000509385.1_5'Flank	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	314					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ATTGAGGCCTCCATAGGCTGC	0.423																																					NSCLC(144;643 1919 24513 29423 40686)	ENST00000499247.2																			0				breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(940-942)gGa>gAa		transducer of ERBB2, 1							66	67	67					17																	48940438		2203	4300	6503	SO:0001583	missense	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48940438C>T	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.941G>A	17.37:g.48940438C>T	ENSP00000268957:p.Gly314Glu					TOB1_ENST00000268957.3_Missense_Mutation_p.G314E	p.G314E	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1374	-			314					B2R9T0|D3DTY3|Q4KMQ0	Missense_Mutation	SNP	ENST00000268957.3	37	c.941G>A	CCDS11576.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556232	0.65425	.	.	ENSG00000141232	ENST00000499247;ENST00000268957	T;T	0.51574	0.7;0.7	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72523	-0.4267	10	0.72032	D	0.01	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	314	P50616	TOB1_HUMAN	E	314	ENSP00000427695:G314E;ENSP00000268957:G314E	ENSP00000268957:G314E	G	-	2	0	TOB1	46295437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.764000	0.94973	0.650000	0.86243	GGA		0.423	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			23	31	0	0	0	1	0	23	31					T	48940438	C	T	48940438	3	4	435	1	0	0	0	0	1	0	0	0	16344	855	30	3	100	3	TOB1	17	48940438	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	187159	48940438	32254772	7497	28422											
NME1	4830	broad.mit.edu	37	chr17	49237346	49237346	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgttgaataggcttcCgaagatcttctcaaggaaca	11	12	9	9	1	2	2	1	1	2	1	5	4	4	3	2	2	1	2	2	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:49237346C>T	ENST00000393196.3	+	3	263	c.132C>T	c.(130-132)tcC>tcT	p.S44S	NME2_ENST00000393193.2_Silent_p.S44S|NME1-NME2_ENST00000608447.1_Silent_p.S69S|NME1_ENST00000480143.1_Silent_p.S69S|NME1_ENST00000511355.1_Silent_p.S44S|NME2_ENST00000376392.6_Silent_p.S44S|NME1_ENST00000013034.3_Silent_p.S69S|NME1-NME2_ENST00000393198.3_Silent_p.S44S|NME2_ENST00000555572.1_Silent_p.S69S|NME1_ENST00000336097.3_Silent_p.S69S	NM_000269.2	NP_000260.1	P15531	NDKA_HUMAN	NME/NM23 nucleoside diphosphate kinase 1	44					cellular response to drug (GO:0035690)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|CTP biosynthetic process (GO:0006241)|DNA catabolic process (GO:0006308)|endocytosis (GO:0006897)|GTP biosynthetic process (GO:0006183)|hippocampus development (GO:0021766)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amine (GO:0014075)|response to cAMP (GO:0051591)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|deoxyribonuclease activity (GO:0004536)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|nucleoside diphosphate kinase activity (GO:0004550)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|single-stranded DNA binding (GO:0003697)			endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	AATAGGCTTCCGAAGATCTTC	0.463																																					GBM(176;1298 2890 6639 30062)	ENST00000511355.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(130-132)tcC>tcT		NME/NM23 nucleoside diphosphate kinase 1							152	138	143					17																	49237346		2203	4300	6503	SO:0001819	synonymous_variant	4830							g.chr17:49237346C>T	AL360191, X17620	CCDS11578.1, CCDS11579.1	17q21.33	2013-04-29	2012-05-18		ENSG00000239672	ENSG00000239672			7849	protein-coding gene	gene with protein product		156490	"non-metastatic cells 1, protein (NM23A) expressed in"			8270257, 19852809	Standard	NM_000269		Approved	NM23, NM23-H1, NDPKA		P15531	OTTHUMG00000137474	ENST00000393196.3:c.132C>T	17.37:g.49237346C>T						NME1_ENST00000013034.3_Silent_p.S69S|NME1_ENST00000480143.1_Silent_p.S69S|NME2_ENST00000393193.2_Silent_p.S44S|NME1_ENST00000393196.3_Silent_p.S44S|NME2_ENST00000376392.6_Silent_p.S44S|NME1_ENST00000336097.3_Silent_p.S69S|NME2_ENST00000555572.1_Silent_p.S69S	p.S44S					BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		3	218	+								Q6FGK3|Q86XQ2|Q9UDJ6	Silent	SNP	ENST00000393196.3	37	c.132C>T	CCDS11579.1																																																																																				0.463	NME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268662.2	NM_000269		14	63	0	0	0	1	0	14	63					T	49237346	C	T	49237346	2	4	435	1	0	0	0	0	0	0	0	1	10489	639	23	2		2	NME1	17	49237346	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	296908	49237346	31957864	7498	28423											
KIF2B	84643	broad.mit.edu	37	chr17	51900983	51900983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcgaagagtatcgcaggCacctggacagcagcaagatc	13	6	12	10	2	0	3	0	1	0	2	3	5	0	4	1	2	2	5	1	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:51900983C>T	ENST00000268919.4	+	1	745	c.589C>T	c.(589-591)Cac>Tac	p.H197Y		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	197					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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						GTATCGCAGGCACCTGGACAG	0.572																																						ENST00000268919.4																			0				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						c.(589-591)Cac>Tac		kinesin family member 2B							76	64	68					17																	51900983		2203	4300	6503	SO:0001583	missense	84643				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	g.chr17:51900983C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.589C>T	17.37:g.51900983C>T	ENSP00000268919:p.His197Tyr						p.H197Y	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	745	+			197					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.589C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190721	0.38707	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.16457	2.34	5.37	3.21	0.36854	.	0.804699	0.10824	N	0.630175	T	0.18299	0.0439	L	0.39898	1.24	0.23776	N	0.996872	P	0.35745	0.518	B	0.39299	0.296	T	0.18053	-1.0349	10	0.72032	D	0.01	.	10.5198	0.44912	0.1342:0.6042:0.2616:0.0	.	197	Q8N4N8	KIF2B_HUMAN	Y	197;120	ENSP00000268919:H197Y	ENSP00000268919:H197Y	H	+	1	0	KIF2B	49255982	0.416000	0.25424	0.867000	0.34043	0.724000	0.41520	0.902000	0.28459	1.345000	0.45676	0.655000	0.94253	CAC		0.572	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		10	19	0	0	0	1	0	10	19					T	51900983	C	T	51900983	3	4	435	1	0	0	0	0	1	0	0	0	8298	710	25	3	591	3	KIF2B	17	51900983	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2663637	51900983	29294227	7499	28424											
KIF2B	84643	broad.mit.edu	37	chr17	51901669	51901669	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacgctcactcatccaggagCcatgcagtgttccagatcat	11	9	8	13	1	3	1	3	0	0	1	5	2	5	2	3	1	3	3	3	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:51901669C>T	ENST00000268919.4	+	1	1431	c.1275C>T	c.(1273-1275)agC>agT	p.S425S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	425	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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						CATCCAGGAGCCATGCAGTGT	0.493																																						ENST00000268919.4																			0				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						c.(1273-1275)agC>agT		kinesin family member 2B							88	68	75					17																	51901669		2203	4300	6503	SO:0001819	synonymous_variant	84643				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	g.chr17:51901669C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1275C>T	17.37:g.51901669C>T							p.S425S	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	1431	+			425			Kinesin-motor.		Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.1275C>T	CCDS32685.1																																																																																				0.493	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		14	24	0	0	0	1	0	14	24					T	51901669	C	T	51901669	2	4	435	1	0	0	0	0	0	0	0	1	8298	738	26	3		3	KIF2B	17	51901669	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	686	51901669	29293541	7500	28425											
KIF2B	84643	broad.mit.edu	37	chr17	51901789	51901789	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggccagccggaaaaggcaGctggaaggggcagagattaa	15	3	16	7	1	0	1	0	0	0	1	0	4	0	3	2	6	2	3	2	6	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:51901789G>A	ENST00000268919.4	+	1	1551	c.1395G>A	c.(1393-1395)caG>caA	p.Q465Q		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	465	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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						GGAAAAGGCAGCTGGAAGGGG	0.493																																						ENST00000268919.4																			0				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						c.(1393-1395)caG>caA		kinesin family member 2B							47	44	45					17																	51901789		2203	4300	6503	SO:0001819	synonymous_variant	84643				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	g.chr17:51901789G>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1395G>A	17.37:g.51901789G>A							p.Q465Q	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	1551	+			465			Kinesin-motor.		Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.1395G>A	CCDS32685.1																																																																																				0.493	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		13	17	0	0	0	1	0	13	17					A	51901789	G	A	51901789	2	1	435	1	0	0	0	0	0	0	0	1	8298	962	34	3		3	KIF2B	17	51901789	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	120	51901789	29293421	7501	28426											
STXBP4	252983	broad.mit.edu	37	chr17	53155477	53155477	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaagagaatcatggtactCgactgccaattacgaaaatc	18	8	7	8	2	1	1	1	0	0	1	3	4	1	1	1	1	3	1	1	1	8	2	rs376882404		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:53155477C>T	ENST00000376352.2	+	14	1434	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	STXBP4_ENST00000434978.2_Silent_p.L387L	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	409					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TCATGGTACTCGACTGCCAAT	0.358																																						ENST00000376352.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1225-1227)ctC>ctT		syntaxin binding protein 4							80	82	81					17																	53155477		2203	4300	6503	SO:0001819	synonymous_variant	252983					cytoplasm	calcium ion binding	g.chr17:53155477C>T	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1227C>T	17.37:g.53155477C>T						STXBP4_ENST00000434978.2_Silent_p.L387L	p.L409L	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN			14	1434	+			409					Q8IVZ5	Silent	SNP	ENST00000376352.2	37	c.1227C>T	CCDS11584.2																																																																																				0.358	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		34	42	0	0	0	1	0	34	42					T	53155477	C	T	53155477	2	4	435	1	0	0	0	0	0	0	0	1	15354	871	31	2		2	STXBP4	17	53155477	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1253688	53155477	28039733	7502	28427											
ANKFN1	162282	broad.mit.edu	37	chr17	54554980	54554980	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagttgcccaacattctctgCcacgtgaagatccgtgaaaa	13	9	8	11	2	1	3	0	2	1	1	3	3	2	3	3	0	3	1	3	0	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:54554980C>A	ENST00000318698.2	+	15	1949	c.1914C>A	c.(1912-1914)tgC>tgA	p.C638*	ANKFN1_ENST00000566473.2_Nonsense_Mutation_p.C638*	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	638										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACATTCTCTGCCACGTGAAGA	0.408																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(1912-1914)tgC>tgA		ankyrin-repeat and fibronectin type III domain containing 1							152	148	149					17																	54554980		2203	4300	6503	SO:0001587	stop_gained	162282							g.chr17:54554980C>A	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1914C>A	17.37:g.54554980C>A	ENSP00000321627:p.Cys638*					ANKFN1_ENST00000318698.2_Nonsense_Mutation_p.C638*	p.C638*			Q8N957	ANKF1_HUMAN			15	1914	+			638						Nonsense_Mutation	SNP	ENST00000318698.2	37	c.1914C>A	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	C	36	5.711434	0.96821	.	.	ENSG00000153930	ENST00000318698	.	.	.	5.83	2.67	0.31697	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-9.3438	9.1081	0.36710	0.0:0.6338:0.0:0.3662	.	.	.	.	X	638	.	ENSP00000321627:C638X	C	+	3	2	ANKFN1	51909979	0.941000	0.31946	1.000000	0.80357	0.963000	0.63663	0.095000	0.15127	0.751000	0.32900	0.655000	0.94253	TGC		0.408	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		9	85	1	0	0.000978159	1	0.000994766	9	85					A	54554980	C	A	54554980	4	1	435	1	0	0	0	0	0	1	0	0	625	747	26	5	1972	5	ANKFN1	17	54554980	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1399503	54554980	26640230	7503	28428											
ANKFN1	162282	broad.mit.edu	37	chr17	54559800	54559800	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgctccctgcctcagaCgacgtctgtacagccccagg	6	8	9	18	2	2	1	1	0	1	1	4	2	4	1	5	1	4	2	5	1	1	1	rs146193202	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:54559800C>T	ENST00000318698.2	+	17	2219	c.2184C>T	c.(2182-2184)gaC>gaT	p.D728D	ANKFN1_ENST00000566473.2_Silent_p.D728D	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	728										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CTGCCTCAGACGACGTCTGTA	0.512													C|||	23	0.00459265	0	0	5008	,	,		17824	0.0099		0.001	False		,,,				2504	0.0123					ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(2182-2184)gaC>gaT		ankyrin-repeat and fibronectin type III domain containing 1		C		1,4405	2.1+/-5.4	0,1,2202	166	150	155		2184	5.5	1	17	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous	ANKFN1	NM_153228.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		728/764	54559800	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54559800C>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.2184C>T	17.37:g.54559800C>T						ANKFN1_ENST00000318698.2_Silent_p.D728D	p.D728D			Q8N957	ANKF1_HUMAN			17	2184	+			728						Silent	SNP	ENST00000318698.2	37	c.2184C>T	CCDS32686.1																																																																																				0.512	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		43	64	0	0	0	1	0	43	64					T	54559800	C	T	54559800	2	4	435	1	0	0	0	0	0	0	0	1	625	535	19	1		1	ANKFN1	17	54559800	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4820	54559800	26635410	7504	28429											
DGKE	8526	broad.mit.edu	37	chr17	54926166	54926166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctggagaaattccagttgCgcaggttttgcgaaatgtaa	11	12	12	6	2	0	1	0	0	0	1	1	3	1	1	1	2	3	5	1	2	3	5	rs149433337		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:54926166C>T	ENST00000284061.3	+	6	1178	c.998C>T	c.(997-999)gCg>gTg	p.A333V		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	333	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					ATTCCAGTTGCGCAGGTTTTG	0.413																																						ENST00000284061.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(997-999)gCg>gTg		diacylglycerol kinase, epsilon 64kDa		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	135	131	132		998	3.4	0.7	17	dbSNP_134	132	0,8600		0,0,4300	no	missense	DGKE	NM_003647.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	333/568	54926166	1,13005	2203	4300	6503	SO:0001583	missense	8526				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	g.chr17:54926166C>T	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"diacylglycerol kinase, epsilon (64kD)"			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.998C>T	17.37:g.54926166C>T	ENSP00000284061:p.Ala333Val						p.A333V	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN			6	1178	+	Breast(9;3.59e-07)		333			DAGKc.		Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.998C>T	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722479	0.48728	2.27E-4	0.0	ENSG00000153933	ENST00000284061	T	0.22336	1.96	5.59	3.4	0.38934	Diacylglycerol kinase, catalytic domain (3);	0.322780	0.36002	N	0.002844	T	0.14313	0.0346	N	0.22421	0.69	0.80722	D	1	B;B	0.19073	0.033;0.033	B;B	0.23419	0.046;0.046	T	0.07046	-1.0793	10	0.25106	T	0.35	.	12.7106	0.57088	0.3559:0.6441:0.0:0.0	.	333;333	A1L4Q0;P52429	.;DGKE_HUMAN	V	333	ENSP00000284061:A333V	ENSP00000284061:A333V	A	+	2	0	DGKE	52281165	1.000000	0.71417	0.738000	0.30950	0.968000	0.65278	4.897000	0.63231	2.642000	0.89623	0.563000	0.77884	GCG		0.413	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		27	49	0	0	0	1	0	27	49					T	54926166	C	T	54926166	3	4	435	1	0	0	0	0	1	0	0	0	4468	768	27	1	1016	1	DGKE	17	54926166	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	366366	54926166	26269044	7505	28430											
TRIM25	7706	broad.mit.edu	37	chr17	54969233	54969233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagcacgcccacccgcgtgGccttggtggagggcagggtt	6	6	17	12	3	0	0	0	0	0	0	0	2	0	1	3	5	1	3	3	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:54969233G>A	ENST00000316881.4	-	9	1770	c.1721C>T	c.(1720-1722)gCc>gTc	p.A574V	RP11-670E13.5_ENST00000574826.1_RNA|TRIM25_ENST00000537230.1_Missense_Mutation_p.A574V|MIR3614_ENST00000581261.1_RNA|TRIM25_ENST00000573108.1_5'Flank	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	574	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CACCCGCGTGGCCTTGGTGGA	0.572																																						ENST00000316881.4																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1720-1722)gCc>gTc		tripartite motif containing 25							73	63	66					17																	54969233		2203	4300	6503	SO:0001583	missense	7706				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	g.chr17:54969233G>A	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12932	protein-coding gene	gene with protein product		600453	"zinc finger protein 147 (estrogen-responsive finger protein)", "tripartite motif-containing 25"	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1721C>T	17.37:g.54969233G>A	ENSP00000323889:p.Ala574Val					TRIM25_ENST00000537230.1_Missense_Mutation_p.A574V	p.A574V	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN			9	1770	-	Breast(9;6.15e-08)		574			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000316881.4	37	c.1721C>T	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278381	0.95459	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.60548	0.18;0.18	4.83	4.83	0.62350	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.56097	D	0.000032	T	0.53786	0.1818	N	0.17474	0.49	0.39088	D	0.961042	D	0.57899	0.981	P	0.60117	0.869	T	0.50583	-0.8811	10	0.16896	T	0.51	.	12.4056	0.55439	0.0819:0.0:0.9181:0.0	.	574	Q14258	TRI25_HUMAN	V	574	ENSP00000323889:A574V;ENSP00000445961:A574V	ENSP00000323889:A574V	A	-	2	0	TRIM25	52324232	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.285000	0.72658	2.222000	0.72286	0.511000	0.50034	GCC		0.572	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		10	13	0	0	0	1	0	10	13					A	54969233	G	A	54969233	3	1	435	1	0	0	0	0	1	0	0	0	16496	1203	42	3	175	3	TRIM25	17	54969233	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43067	54969233	26225977	7506	28431											
TRIM25	7706	broad.mit.edu	37	chr17	54969543	54969543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtatagcactctgacagagCcactttgttgtgggcggtgt	7	13	13	8	1	1	2	0	1	1	1	1	2	1	2	1	2	2	3	1	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:54969543C>T	ENST00000316881.4	-	9	1460	c.1411G>A	c.(1411-1413)Gct>Act	p.A471T	RP11-670E13.5_ENST00000574826.1_RNA|TRIM25_ENST00000537230.1_Missense_Mutation_p.A471T|MIR3614_ENST00000581261.1_RNA|TRIM25_ENST00000573108.1_5'Flank	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	471	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TCTGACAGAGCCACTTTGTTG	0.498																																						ENST00000316881.4																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1411-1413)Gct>Act		tripartite motif containing 25							69	71	70					17																	54969543		2203	4300	6503	SO:0001583	missense	7706				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	g.chr17:54969543C>T	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12932	protein-coding gene	gene with protein product		600453	"zinc finger protein 147 (estrogen-responsive finger protein)", "tripartite motif-containing 25"	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1411G>A	17.37:g.54969543C>T	ENSP00000323889:p.Ala471Thr					TRIM25_ENST00000537230.1_Missense_Mutation_p.A471T	p.A471T	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN			9	1460	-	Breast(9;6.15e-08)		471			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000316881.4	37	c.1411G>A	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506953	0.44558	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.10668	2.85;2.85	4.84	0.214	0.15249	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.511934	0.17863	N	0.159475	T	0.11879	0.0289	L	0.41632	1.29	0.22873	N	0.998625	P	0.49358	0.923	P	0.54100	0.742	T	0.22347	-1.0219	10	0.14252	T	0.57	.	5.5053	0.16850	0.3902:0.4633:0.0:0.1465	.	471	Q14258	TRI25_HUMAN	T	471	ENSP00000323889:A471T;ENSP00000445961:A471T	ENSP00000323889:A471T	A	-	1	0	TRIM25	52324542	0.000000	0.05858	0.963000	0.40424	0.168000	0.22595	-0.338000	0.07842	-0.171000	0.10797	-0.409000	0.06214	GCT		0.498	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		51	79	0	0	0	1	0	51	79					T	54969543	C	T	54969543	3	4	435	1	0	0	0	0	1	0	0	0	16496	739	26	3	485	3	TRIM25	17	54969543	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	310	54969543	26225667	7507	28432											
COIL	8161	broad.mit.edu	37	chr17	55027366	55027366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcctcgacctctcccccGcatgccccgtcccttagctc	3	10	6	22	4	1	0	0	0	1	0	7	1	3	0	7	0	2	2	7	0	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:55027366G>A	ENST00000240316.4	-	2	1271	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	413	2 X 4 AA repeats of S-L-P-A.|4 X 2 AA tandem repeats of R-G.|Required for interaction with SMN.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CCTCTCCCCCGCATGCCCCGT	0.498																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(1237-1239)Cgg>Tgg		coilin							80	83	82					17																	55027366		2203	4300	6503	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55027366G>A	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1237C>T	17.37:g.55027366G>A	ENSP00000240316:p.Arg413Trp						p.R413W	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			2	1271	-	Breast(9;6.15e-08)		413			2 X 4 AA repeats of S-L-P-A.|4 X 2 AA tandem repeats of R-G.		B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.1237C>T	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495624	0.26774	.	.	ENSG00000121058	ENST00000240316	.	.	.	5.75	2.66	0.31614	.	1.030250	0.07756	N	0.949292	T	0.39809	0.1092	M	0.70275	2.135	0.20764	N	0.999853	P	0.36048	0.534	B	0.28991	0.097	T	0.31530	-0.9940	9	0.59425	D	0.04	-0.9235	6.8975	0.24265	0.144:0.0:0.7148:0.1412	.	413	P38432	COIL_HUMAN	W	413	.	ENSP00000240316:R413W	R	-	1	2	COIL	52382365	0.982000	0.34865	0.111000	0.21465	0.492000	0.33523	3.049000	0.49869	0.345000	0.23873	-0.253000	0.11424	CGG		0.498	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			17	17	0	0	0	1	0	17	17					A	55027366	G	A	55027366	3	1	435	1	0	0	0	0	1	0	0	0	3665	1086	38	1	517	1	COIL	17	55027366	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	57823	55027366	26167844	7508	28433											
AKAP1	8165	broad.mit.edu	37	chr17	55191836	55191836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagctcatgctgcctgatgGcatcaccgtggaggtcattg	8	10	12	11	1	3	1	3	1	0	0	3	2	3	2	2	3	3	3	2	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:55191836G>A	ENST00000337714.3	+	6	2353	c.2120G>A	c.(2119-2121)gGc>gAc	p.G707D	AKAP1_ENST00000539273.1_Missense_Mutation_p.G707D|AKAP1_ENST00000571629.1_Missense_Mutation_p.G707D|AKAP1_ENST00000572557.1_Missense_Mutation_p.G707D	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	707					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CTGCCTGATGGCATCACCGTG	0.567											OREG0024595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(2119-2121)gGc>gAc		A kinase (PRKA) anchor protein 1							124	102	109					17																	55191836		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55191836G>A	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.2120G>A	17.37:g.55191836G>A	ENSP00000337736:p.Gly707Asp		OREG0024595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1006	AKAP1_ENST00000572557.1_Missense_Mutation_p.G707D|AKAP1_ENST00000571629.1_Missense_Mutation_p.G707D|AKAP1_ENST00000539273.1_Missense_Mutation_p.G707D	p.G707D	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			6	2353	+	Breast(9;5.46e-08)		707					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.2120G>A	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569482	0.86439	.	.	ENSG00000121057	ENST00000337714;ENST00000427138;ENST00000539273	T;T	0.09255	3.0;3.0	5.9	5.9	0.94986	Maternal tudor protein (1);	0.000000	0.85682	D	0.000000	T	0.26521	0.0648	L	0.39245	1.2	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	T	0.00070	-1.2134	10	0.52906	T	0.07	-26.7366	19.2703	0.94006	0.0:0.0:1.0:0.0	.	707	Q92667	AKAP1_HUMAN	D	707;749;707	ENSP00000337736:G707D;ENSP00000443139:G707D	ENSP00000337736:G707D	G	+	2	0	AKAP1	52546835	1.000000	0.71417	0.932000	0.37286	0.832000	0.47134	9.136000	0.94489	2.806000	0.96561	0.655000	0.94253	GGC		0.567	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			14	23	0	0	0	1	0	14	23					A	55191836	G	A	55191836	3	1	435	1	0	0	0	0	1	0	0	0	445	1203	42	3	2138	3	AKAP1	17	55191836	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	164470	55191836	26003374	7509	28434											
VEZF1	7716	broad.mit.edu	37	chr17	56060232	56060232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcgattgagatggtacaCatctcggaaggccttcccac	9	10	11	11	2	1	1	0	1	1	1	4	4	2	2	2	3	1	1	2	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56060232C>T	ENST00000581208.1	-	2	596	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	VEZF1_ENST00000584396.1_Missense_Mutation_p.V177M	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	186					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AGATGGTACACATCTCGGAAG	0.488																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(529-531)Gtg>Atg		vascular endothelial zinc finger 1							86	71	76					17																	56060232		2203	4300	6503	SO:0001583	missense	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060232C>T	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"Zinc fingers, C2H2-type"	12949	protein-coding gene	gene with protein product		606747	"zinc finger protein 161"	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.556G>A	17.37:g.56060232C>T	ENSP00000462337:p.Val186Met					VEZF1_ENST00000581208.1_Missense_Mutation_p.V186M	p.V177M			Q14119	VEZF1_HUMAN			2	617	-			186						Missense_Mutation	SNP	ENST00000581208.1	37	c.529G>A	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120354	0.77323	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	L	0.34521	1.04	0.80722	D	1	P	0.35714	0.517	B	0.34824	0.19	T	0.46359	-0.9197	9	0.33940	T	0.23	-6.9846	19.3617	0.94442	0.0:1.0:0.0:0.0	.	186	Q14119	VEZF1_HUMAN	M	186	.	ENSP00000258963:V186M	V	-	1	0	VEZF1	53415231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.590000	0.87494	0.643000	0.83706	GTG		0.488	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			15	19	0	0	0	1	0	15	19					T	56060232	C	T	56060232	3	4	435	1	0	0	0	0	1	0	0	0	17152	478	17	3	1029	3	VEZF1	17	56060232	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	868396	56060232	25134978	7510	28435											
OR4D1	26689	broad.mit.edu	37	chr17	56232829	56232829	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccagatcttcttcttccaCcttttgggaggtgggactgt	5	14	11	11	0	3	1	0	0	3	1	4	3	4	3	3	3	0	0	3	3	0	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56232829C>T	ENST00000268912.5	+	1	336	c.315C>T	c.(313-315)caC>caT	p.H105H		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	105					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCTTCTTCCACCTTTTGGGAG	0.527																																						ENST00000268912.5																			0				kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(313-315)caC>caT		olfactory receptor, family 4, subfamily D, member 1							105	108	107					17																	56232829		2180	4284	6464	SO:0001819	synonymous_variant	26689				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56232829C>T	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"GPCR / Class A : Olfactory receptors"	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.315C>T	17.37:g.56232829C>T							p.H105H	NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN			1	336	+			105					B2RN14|Q8NGB1|Q96R76	Silent	SNP	ENST00000268912.5	37	c.315C>T	CCDS42365.1																																																																																				0.527	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			21	28	0	0	0	1	0	21	28					T	56232829	C	T	56232829	2	4	435	1	0	0	0	0	0	0	0	1	11053	506	18	3		3	OR4D1	17	56232829	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	172597	56232829	24962381	7511	28436											
EPX	8288	broad.mit.edu	37	chr17	56276416	56276416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggtgacacccgatcaaCggaaacccccaaactggcag	14	4	9	14	2	2	1	2	1	0	0	2	3	2	2	3	3	3	1	3	3	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56276416C>T	ENST00000225371.5	+	8	1246	c.1136C>T	c.(1135-1137)aCg>aTg	p.T379M		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	379					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	ACCCGATCAACGGAAACCCCC	0.567																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(1135-1137)aCg>aTg		eosinophil peroxidase							74	65	68					17																	56276416		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56276416C>T	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1136C>T	17.37:g.56276416C>T	ENSP00000225371:p.Thr379Met						p.T379M	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			8	1246	+			379					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.1136C>T	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.178047	0.57692	.	.	ENSG00000121053	ENST00000225371	T	0.73047	-0.71	5.55	-1.24	0.09435	.	0.409870	0.32372	N	0.006190	T	0.72003	0.3407	L	0.28400	0.85	0.09310	N	1	D	0.52996	0.957	P	0.54590	0.756	T	0.73833	-0.3858	10	0.87932	D	0	-3.4044	22.6663	0.99974	0.0:0.13:0.87:0.0	.	379	P11678	PERE_HUMAN	M	379	ENSP00000225371:T379M	ENSP00000225371:T379M	T	+	2	0	EPX	53631415	0.000000	0.05858	0.000000	0.03702	0.950000	0.60333	-0.224000	0.09164	-0.536000	0.06298	0.655000	0.94253	ACG		0.567	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		4	49	0	0	0	1	0	4	49					T	56276416	C	T	56276416	3	4	435	1	0	0	0	0	1	0	0	0	5200	536	19	1	1166	1	EPX	17	56276416	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	43587	56276416	24918794	7512	28437											
EPX	8288	broad.mit.edu	37	chr17	56277092	56277092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagtcagtaccgggcctccGcacccaactcgcatgtccca	9	6	8	18	3	1	0	1	0	0	0	4	0	3	0	5	1	2	3	5	1	2	1	rs138562045		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56277092G>A	ENST00000225371.5	+	9	1584	c.1474G>A	c.(1474-1476)Gca>Aca	p.A492T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	492					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CCGGGCCTCCGCACCCAACTC	0.602																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(1474-1476)Gca>Aca		eosinophil peroxidase		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	99	80	87		1474	5.8	0.6	17	dbSNP_134	87	1,8599		0,1,4299	no	missense	EPX	NM_000502.4	58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	492/716	56277092	2,13004	2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56277092G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1474G>A	17.37:g.56277092G>A	ENSP00000225371:p.Ala492Thr						p.A492T	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			9	1584	+			492					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.1474G>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.552684	0.27739	2.27E-4	1.16E-4	ENSG00000121053	ENST00000225371	T	0.69040	-0.37	5.81	5.81	0.92471	.	0.453373	0.27258	N	0.020198	T	0.46889	0.1416	N	0.26092	0.79	0.09310	N	1	P	0.40180	0.705	B	0.31390	0.129	T	0.43458	-0.9390	10	0.21540	T	0.41	-2.0416	10.9241	0.47182	0.0844:0.0:0.9156:0.0	.	492	P11678	PERE_HUMAN	T	492	ENSP00000225371:A492T	ENSP00000225371:A492T	A	+	1	0	EPX	53632091	0.000000	0.05858	0.633000	0.29310	0.429000	0.31625	0.545000	0.23268	2.756000	0.94617	0.655000	0.94253	GCA		0.602	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		18	17	0	0	0	1	0	18	17					A	56277092	G	A	56277092	3	1	435	1	0	0	0	0	1	0	0	0	5200	1087	38	1	1508	1	EPX	17	56277092	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	676	56277092	24918118	7513	28438											
MPO	4353	broad.mit.edu	37	chr17	56349138	56349138	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgtcgatgttgttgggCgtgccatactgctccatcag	7	12	12	10	2	1	1	1	0	0	1	3	2	2	1	2	1	3	3	2	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56349138C>T	ENST00000225275.3	-	11	2084	c.1908G>A	c.(1906-1908)acG>acA	p.T636T	MPO_ENST00000340482.3_Silent_p.T668T	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	636					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	TGTTGTTGGGCGTGCCATACT	0.622																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(2002-2004)acG>acA		myeloperoxidase	Cefdinir(DB00535)						120	80	94					17																	56349138		2203	4300	6503	SO:0001819	synonymous_variant	4353				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	g.chr17:56349138C>T		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1908G>A	17.37:g.56349138C>T						MPO_ENST00000225275.3_Silent_p.T636T	p.T668T			P05164	PERM_HUMAN			10	2180	-			636					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.2004G>A	CCDS11604.1																																																																																				0.622	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			26	33	0	0	0	1	0	26	33					T	56349138	C	T	56349138	2	4	435	1	0	0	0	0	0	0	0	1	9732	755	27	1		1	MPO	17	56349138	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	72046	56349138	24846072	7514	28439											
MPO	4353	broad.mit.edu	37	chr17	56350205	56350205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatcgctcccggatctcatCcactgcaatttggttctgac	8	12	7	14	2	2	1	1	1	2	0	6	2	4	2	2	2	1	3	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56350205C>A	ENST00000225275.3	-	10	1872	c.1696G>T	c.(1696-1698)Gat>Tat	p.D566Y	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.D598Y	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	566					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CGGATCTCATCCACTGCAATT	0.612																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(1792-1794)Gat>Tat		myeloperoxidase	Cefdinir(DB00535)						136	136	136					17																	56350205		2203	4300	6503	SO:0001583	missense	4353				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	g.chr17:56350205C>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1696G>T	17.37:g.56350205C>A	ENSP00000225275:p.Asp566Tyr					MPO_ENST00000225275.3_Missense_Mutation_p.D566Y	p.D598Y			P05164	PERM_HUMAN			9	1968	-			566					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1792G>T	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170937	0.57584	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.74737	-0.87;-0.87	5.1	4.11	0.48088	.	0.110515	0.64402	D	0.000010	D	0.85243	0.5652	M	0.85859	2.78	0.46701	D	0.999166	D	0.89917	1.0	D	0.91635	0.999	D	0.85476	0.1176	10	0.72032	D	0.01	-14.7749	8.2898	0.31950	0.0:0.7588:0.1584:0.0828	.	566	P05164	PERM_HUMAN	Y	598;566	ENSP00000344419:D598Y;ENSP00000225275:D566Y	ENSP00000225275:D566Y	D	-	1	0	MPO	53705204	1.000000	0.71417	0.956000	0.39512	0.899000	0.52679	1.988000	0.40697	1.090000	0.41315	0.561000	0.74099	GAT		0.612	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			41	83	1	0	1.62957e-23	1	1.81649e-23	41	83					A	56350205	C	A	56350205	3	1	435	1	0	0	0	0	1	0	0	0	9732	855	30	5	553	5	MPO	17	56350205	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1067	56350205	24845005	7515	28440											
MPO	4353	broad.mit.edu	37	chr17	56356548	56356548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctgatcagtggggaagcGcacgatctcgttggagaccg	9	7	15	10	4	2	2	1	1	1	1	3	5	2	3	1	3	2	3	1	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56356548G>A	ENST00000225275.3	-	6	882	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.R268C	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	236					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GTGGGGAAGCGCACGATCTCG	0.687																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(802-804)Cgc>Tgc		myeloperoxidase	Cefdinir(DB00535)						48	46	47					17																	56356548		2203	4299	6502	SO:0001583	missense	4353				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	g.chr17:56356548G>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.706C>T	17.37:g.56356548G>A	ENSP00000225275:p.Arg236Cys					MPO_ENST00000225275.3_Missense_Mutation_p.R236C	p.R268C			P05164	PERM_HUMAN			5	978	-			236					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.802C>T	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076199	0.76415	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.70399	-0.48;-0.48	5.37	4.4	0.53042	.	0.181750	0.49305	D	0.000160	D	0.86024	0.5834	M	0.92122	3.275	0.58432	D	0.999991	D	0.89917	1.0	D	0.70716	0.97	D	0.88279	0.2935	10	0.59425	D	0.04	-27.3143	12.573	0.56347	0.0798:0.0:0.9202:0.0	.	236	P05164	PERM_HUMAN	C	268;236	ENSP00000344419:R268C;ENSP00000225275:R236C	ENSP00000225275:R236C	R	-	1	0	MPO	53711547	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.938000	0.63519	2.536000	0.85505	0.462000	0.41574	CGC		0.687	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			10	9	0	0	0	1	0	10	9					A	56356548	G	A	56356548	3	1	435	1	0	0	0	0	1	0	0	0	9732	1087	38	1	1559	1	MPO	17	56356548	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6343	56356548	24838662	7516	28441											
BZRAP1	9256	broad.mit.edu	37	chr17	56381740	56381740	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctatctccatctagcactgGactcttctcctcctcgttct	5	16	4	16	1	6	0	0	0	6	0	10	1	7	1	3	1	1	2	3	1	2	4	rs545954208|rs543719572	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56381740G>A	ENST00000343736.4	-	31	5728	c.5565C>T	c.(5563-5565)gtC>gtT	p.V1855V	BZRAP1_ENST00000268893.6_Silent_p.V1795V|BZRAP1_ENST00000355701.3_Intron			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1855						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			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)					TCTAGCACTGGACTCTTCTCC	0.567											OREG0024610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000268893.6																			0				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						c.(5383-5385)gtC>gtT		benzodiazapine receptor (peripheral) associated protein 1							179	148	159					17																	56381740		2203	4300	6503	SO:0001819	synonymous_variant	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56381740G>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.5565C>T	17.37:g.56381740G>A			OREG0024610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1015	BZRAP1_ENST00000355701.3_Intron|BZRAP1_ENST00000343736.4_Silent_p.V1855V	p.V1795V	NM_024418.2	NP_077729.1	O95153	RIMB1_HUMAN			30	6224	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1855			SH3 3.		O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	c.5385C>T	CCDS11605.1																																																																																				0.567	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		12	85	0	0	0	1	0	12	85					A	56381740	G	A	56381740	2	1	435	1	0	0	0	0	0	0	0	1	1577	1161	41	3		3	BZRAP1	17	56381740	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25192	56381740	24813470	7517	28442											
BZRAP1	9256	broad.mit.edu	37	chr17	56387880	56387880	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaacccctacctcagccCtgggcctcagcccagaccct	8	5	6	22	0	2	1	2	0	0	1	2	1	2	1	8	1	4	0	8	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56387880C>A	ENST00000343736.4	-	20	3855	c.3692G>T	c.(3691-3693)aGg>aTg	p.R1231M	BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1171M|BZRAP1_ENST00000355701.3_Missense_Mutation_p.R1231M			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1231						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			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)					TACCTCAGCCCTGGGCCTCAG	0.627																																						ENST00000355701.3																			0				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						c.(3691-3693)aGg>aTg		benzodiazapine receptor (peripheral) associated protein 1							36	42	40					17																	56387880		2196	4294	6490	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56387880C>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3692G>T	17.37:g.56387880C>A	ENSP00000345824:p.Arg1231Met					BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1171M|BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1231M	p.R1231M	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			20	4562	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1231					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.3692G>T	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130429	0.56828	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	D;D;D	0.89196	-2.48;-2.48;-2.48	5.71	2.7	0.31948	.	0.536843	0.22365	N	0.061027	D	0.91798	0.7405	M	0.63843	1.955	0.29506	N	0.854578	P;D;D	0.89917	0.913;1.0;0.998	B;D;D	0.85130	0.443;0.997;0.975	D	0.86155	0.1590	10	0.59425	D	0.04	.	7.814	0.29247	0.0:0.7457:0.0:0.2543	.	1231;1171;1231	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	M	1231;1231;1171	ENSP00000347929:R1231M;ENSP00000345824:R1231M;ENSP00000268893:R1171M	ENSP00000268893:R1171M	R	-	2	0	BZRAP1	53742879	0.809000	0.29036	0.580000	0.28601	0.855000	0.48748	1.305000	0.33493	0.370000	0.24538	-0.379000	0.06801	AGG		0.627	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		12	24	1	0	3.07112e-06	1	3.18879e-06	12	24					A	56387880	C	A	56387880	3	1	435	1	0	0	0	0	1	0	0	0	1577	681	24	5	1929	5	BZRAP1	17	56387880	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6140	56387880	24807330	7518	28443											
BZRAP1	9256	broad.mit.edu	37	chr17	56393793	56393793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagggacccacctataacGtgctaggaagacctggatcc	11	7	12	11	1	0	2	0	1	0	1	1	5	1	5	4	3	2	1	4	3	4	3	rs370287341		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56393793G>A	ENST00000343736.4	-	15	2144	c.1981C>T	c.(1981-1983)Cgt>Tgt	p.R661C	BZRAP1_ENST00000268893.6_Missense_Mutation_p.R601C|BZRAP1_ENST00000355701.3_Missense_Mutation_p.R661C			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	661	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			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)					CACCTATAACGTGCTAGGAAG	0.647																																						ENST00000355701.3																			0				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						c.(1981-1983)Cgt>Tgt		benzodiazapine receptor (peripheral) associated protein 1							59	52	55					17																	56393793		2203	4299	6502	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56393793G>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1981C>T	17.37:g.56393793G>A	ENSP00000345824:p.Arg661Cys					BZRAP1_ENST00000268893.6_Missense_Mutation_p.R601C|BZRAP1_ENST00000343736.4_Missense_Mutation_p.R661C	p.R661C	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			15	2851	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		661			SH3 1.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.1981C>T	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439389	0.63067	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.30182	1.54;1.54;1.54	5.81	5.81	0.92471	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	M	0.64676	1.99	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.988;0.998;0.997	T	0.55451	-0.8139	10	0.87932	D	0	.	19.051	0.93046	0.0:0.0:1.0:0.0	.	661;601;661	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	C	661;661;601	ENSP00000347929:R661C;ENSP00000345824:R661C;ENSP00000268893:R601C	ENSP00000268893:R601C	R	-	1	0	BZRAP1	53748792	1.000000	0.71417	0.955000	0.39395	0.099000	0.18886	5.790000	0.69038	2.745000	0.94114	0.655000	0.94253	CGT		0.647	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		23	36	0	0	0	1	0	23	36					A	56393793	G	A	56393793	3	1	435	1	0	0	0	0	1	0	0	0	1577	1145	40	1	3660	1	BZRAP1	17	56393793	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5913	56393793	24801417	7519	28444											
BZRAP1	9256	broad.mit.edu	37	chr17	56400901	56400901	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccgcatcctcctggggCgtggcctggaaatgcccagg	5	9	14	13	2	0	0	0	0	0	0	3	1	3	1	5	5	1	1	5	5	1	1	rs377369471		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56400901C>T	ENST00000343736.4	-	6	1111	c.948G>A	c.(946-948)acG>acA	p.T316T	BZRAP1_ENST00000268893.6_Silent_p.T256T|BZRAP1_ENST00000355701.3_Silent_p.T316T|BZRAP1-AS1_ENST00000579527.1_RNA			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	316						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			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)					CCTCCTGGGGCGTGGCCTGGA	0.657																																						ENST00000355701.3																			0				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						c.(946-948)acG>acA		benzodiazapine receptor (peripheral) associated protein 1		C	,	1,4405	2.1+/-5.4	0,1,2202	97	85	89		948,768	-9.3	0	17		89	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	BZRAP1	NM_004758.2,NM_024418.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	316/1858,256/1798	56400901	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56400901C>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.948G>A	17.37:g.56400901C>T						BZRAP1_ENST00000268893.6_Silent_p.T256T|BZRAP1_ENST00000343736.4_Silent_p.T316T	p.T316T	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			6	1818	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		316					O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	c.948G>A	CCDS11605.1																																																																																				0.657	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		30	42	0	0	0	1	0	30	42					T	56400901	C	T	56400901	2	4	435	1	0	0	0	0	0	0	0	1	1577	755	27	1		1	BZRAP1	17	56400901	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7108	56400901	24794309	7520	28445											
RNF43	54894	broad.mit.edu	37	chr17	56435456	56435456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgccatgccactggaaccGctttttgtagtggtggtgcc	5	12	12	12	1	0	0	0	0	0	0	0	1	0	1	5	3	4	2	5	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56435456G>A	ENST00000584437.1	-	8	3636	c.1681C>T	c.(1681-1683)Cgg>Tgg	p.R561W	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.R561W|RNF43_ENST00000500597.2_Missense_Mutation_p.R520W|RNF43_ENST00000583753.1_Missense_Mutation_p.R520W|RNF43_ENST00000577716.1_Missense_Mutation_p.R561W|RNF43_ENST00000577625.1_Missense_Mutation_p.R434W|RNF43_ENST00000581868.1_Missense_Mutation_p.R434W			Q68DV7	RNF43_HUMAN	ring finger protein 43	561					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			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)					CACTGGAACCGCTTTTTGTAG	0.632																																						ENST00000584437.1																			0				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						c.(1681-1683)Cgg>Tgg		ring finger protein 43							74	83	80					17																	56435456		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435456G>A		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1681C>T	17.37:g.56435456G>A	ENSP00000463069:p.Arg561Trp					BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.R561W|RNF43_ENST00000500597.2_Missense_Mutation_p.R520W|RNF43_ENST00000577625.1_Missense_Mutation_p.R434W|RNF43_ENST00000583753.1_Missense_Mutation_p.R520W|RNF43_ENST00000577716.1_Missense_Mutation_p.R561W|RNF43_ENST00000581868.1_Missense_Mutation_p.R434W	p.R561W			Q68DV7	RNF43_HUMAN			8	3636	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		561					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.1681C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627355	0.66901	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.21361	2.01;2.01	5.3	4.31	0.51392	.	0.693041	0.13860	N	0.357746	T	0.28333	0.0700	L	0.29908	0.895	0.32063	N	0.595503	D;D;D	0.71674	0.997;0.998;0.99	P;P;P	0.56916	0.653;0.809;0.451	T	0.27905	-1.0060	10	0.87932	D	0	-17.0328	11.1406	0.48400	0.0:0.0:0.8154:0.1846	.	520;561;561	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	W	561;520	ENSP00000385328:R561W;ENSP00000441969:R520W	ENSP00000385328:R561W	R	-	1	2	RNF43	53790455	0.601000	0.26907	0.997000	0.53966	0.820000	0.46376	1.394000	0.34509	1.194000	0.43101	0.205000	0.17691	CGG		0.632	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		19	61	0	0	0	1	0	19	61					A	56435456	G	A	56435456	3	1	435	1	0	0	0	0	1	0	0	0	13495	1086	38	1	678	1	RNF43	17	56435456	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	34555	56435456	24759754	7521	28446											
MTMR4	9110	broad.mit.edu	37	chr17	56582922	56582922	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggccattcccatgaacacGacctcacagttgggatagta	11	10	9	11	1	1	1	1	1	0	0	2	3	2	2	3	2	1	2	3	2	3	5	rs201483541		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56582922G>A	ENST00000323456.5	-	11	1138	c.1014C>T	c.(1012-1014)gtC>gtT	p.V338V	MTMR4_ENST00000579925.1_Silent_p.V338V	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	338	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCATGAACACGACCTCACAGT	0.552																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(1012-1014)gtC>gtT		myotubularin related protein 4							131	108	116					17																	56582922		2203	4300	6503	SO:0001819	synonymous_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56582922G>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1014C>T	17.37:g.56582922G>A						MTMR4_ENST00000579925.1_Silent_p.V338V	p.V338V	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			11	1138	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		338			Myotubularin phosphatase.		D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	ENST00000323456.5	37	c.1014C>T	CCDS11608.1																																																																																				0.552	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		21	50	0	0	0	1	0	21	50					A	56582922	G	A	56582922	2	1	435	1	0	0	0	0	0	0	0	1	9946	1045	37	2		2	MTMR4	17	56582922	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	147466	56582922	24612288	7522	28447											
SEPT4	5414	broad.mit.edu	37	chr17	56602475	56602475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatccccaaaacctggtGtgtccacaatggtgagccgc	9	8	10	14	1	0	1	0	1	0	0	2	1	2	1	5	2	3	1	5	2	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56602475G>A	ENST00000317268.3	-	5	802	c.626C>T	c.(625-627)aCa>aTa	p.T209I	SEPT4_ENST00000580809.1_Missense_Mutation_p.T91I|SEPT4_ENST00000393086.1_Missense_Mutation_p.T190I|SEPT4_ENST00000580844.1_Missense_Mutation_p.T110I|SEPT4_ENST00000579371.1_Missense_Mutation_p.T110I|SEPT4_ENST00000457347.2_Missense_Mutation_p.T224I|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000412945.3_Missense_Mutation_p.T201I|SEPT4_ENST00000426861.1_Missense_Mutation_p.T190I|SEPT4_ENST00000583114.1_Missense_Mutation_p.T62I|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000580791.1_5'Flank|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000317256.6_Missense_Mutation_p.T190I	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	209	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAAACCTGGTGTGTCCACAAT	0.522																																						ENST00000426861.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(568-570)aCa>aTa		septin 4							339	266	291					17																	56602475		2203	4300	6503	SO:0001583	missense	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56602475G>A	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"Septins"	9165	protein-coding gene	gene with protein product	"bradeoin", "septin-M"	603696	"peanut-like 2 (Drosophila)"	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.626C>T	17.37:g.56602475G>A	ENSP00000321674:p.Thr209Ile					SEPT4_ENST00000317268.3_Missense_Mutation_p.T209I|SEPT4_ENST00000583114.1_Missense_Mutation_p.T62I|SEPT4_ENST00000580809.1_Missense_Mutation_p.T91I|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000457347.2_Missense_Mutation_p.T224I|SEPT4_ENST00000579371.1_Missense_Mutation_p.T110I|SEPT4_ENST00000317256.6_Missense_Mutation_p.T190I|SEPT4_ENST00000393086.1_Missense_Mutation_p.T190I|SEPT4_ENST00000412945.3_Missense_Mutation_p.T201I|SEPT4_ENST00000580844.1_Missense_Mutation_p.T110I	p.T190I	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN			5	655	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		209					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	c.569C>T	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350360	0.41599	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086;ENST00000426861	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.09	5.09	0.68999	.	0.058283	0.64402	D	0.000002	T	0.80849	0.4702	H	0.95470	3.675	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;0.999;0.99;0.999	D;D;D;D;D;D;D	0.97110	0.997;0.982;1.0;0.987;0.993;0.986;0.996	D	0.86704	0.1931	10	0.87932	D	0	.	16.343	0.83101	0.0:0.0:1.0:0.0	.	201;224;62;190;190;62;209	O43236-3;O43236-4;B3KR63;O43236-6;O43236-2;O43236-5;O43236	.;.;.;.;.;.;SEPT4_HUMAN	I	201;223;190;209;190;190	ENSP00000414779:T201I;ENSP00000321071:T190I;ENSP00000321674:T209I;ENSP00000376801:T190I;ENSP00000402348:T190I	ENSP00000321071:T190I	T	-	2	0	SEPT4	53957474	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.772000	0.98984	2.521000	0.84997	0.650000	0.86243	ACA		0.522	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		4	144	0	0	0	1	0	4	144					A	56602475	G	A	56602475	3	1	435	1	0	0	0	0	1	0	0	0	14066	1377	48	3	927	3	SEPT4	17	56602475	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19553	56602475	24592735	7523	28448											
TEX14	56155	broad.mit.edu	37	chr17	56679761	56679761	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaacttcagggcttgcCtttaagtcattcttcagaat	11	13	6	11	0	4	1	3	0	1	1	4	1	4	1	2	1	3	1	2	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56679761C>A	ENST00000240361.8	-	12	1630	c.1545G>T	c.(1543-1545)aaG>aaT	p.K515N	TEX14_ENST00000349033.5_Splice_Site_p.K509N|TEX14_ENST00000389934.3_Splice_Site_p.K509N			Q8IWB6	TEX14_HUMAN	testis expressed 14	515	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGGGCTTGCCTTTAAGTCAT	0.393																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.e12+1		testis expressed 14							102	88	93					17																	56679761		2203	4300	6503	SO:0001630	splice_region_variant	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56679761C>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1545+1G>T	17.37:g.56679761C>A						TEX14_ENST00000349033.5_Splice_Site_p.K509_splice|TEX14_ENST00000240361.8_Splice_Site_p.K515_splice	p.K509_splice	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			12	1644	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		515			Protein kinase.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Splice_Site	SNP	ENST00000240361.8	37	c.1527_splice	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304863	0.60305	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.44083	0.93;0.93;0.93	6.04	6.04	0.98038	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.239989	0.37012	N	0.002281	T	0.56934	0.2019	L	0.44542	1.39	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.71414	0.94;0.973;0.973	T	0.47898	-0.9081	9	.	.	.	-15.4005	17.3141	0.87217	0.0:1.0:0.0:0.0	.	515;509;509	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	N	515;509;509	ENSP00000240361:K515N;ENSP00000374584:K509N;ENSP00000268910:K509N	.	K	-	3	2	TEX14	54034760	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	4.990000	0.63876	2.873000	0.98535	0.563000	0.77884	AAG		0.393	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		Missense_Mutation	32	43	1	0	3.86903e-22	1	4.30158e-22	32	43					A	56679761	C	A	56679761	5	1	435	1	0	0	0	0	0	0	1	0	15775	695	24	5	3036	5	TEX14	17	56679761	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	77286	56679761	24515449	7524	28449											
PPM1E	22843	broad.mit.edu	37	chr17	57043078	57043078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagacagtgaaattggccCgttctgtcttcagcaaacta	11	12	9	9	1	3	2	1	2	2	1	3	3	3	2	1	1	2	2	1	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:57043078C>T	ENST00000308249.2	+	3	736	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	RP11-579O24.3_ENST00000582080.1_RNA	NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0					protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)	p.R203S(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GAAATTGGCCCGTTCTGTCTT	0.463																																						ENST00000308249.2																			1	Substitution - Missense(1)	p.R203S(1)	lung(1)	biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(607-609)Cgt>Tgt		protein phosphatase, Mg2+/Mn2+ dependent, 1E							205	212	210					17																	57043078		2203	4300	6503	SO:0001583	missense	22843				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:57043078C>T	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.607C>T	17.37:g.57043078C>T	ENSP00000312411:p.Arg203Cys						p.R203C	NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		3	736	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		212					Q8N8J9|Q96DB8	Missense_Mutation	SNP	ENST00000308249.2	37	c.607C>T	CCDS11613.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506414	0.85282	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.22539	1.95	5.63	5.63	0.86233	.	0.049577	0.85682	D	0.000000	T	0.31796	0.0808	M	0.65975	2.015	0.80722	D	1	D	0.56968	0.978	B	0.44278	0.445	T	0.13602	-1.0503	10	0.72032	D	0.01	-0.0331	19.6873	0.95984	0.0:1.0:0.0:0.0	.	203	Q8WY54-2	.	C	203;55	ENSP00000312411:R203C	ENSP00000312411:R203C	R	+	1	0	PPM1E	54397860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.079000	0.71291	2.650000	0.89964	0.557000	0.71058	CGT		0.463	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		87	168	0	0	0	1	0	87	168					T	57043078	C	T	57043078	3	4	435	1	0	0	0	0	1	0	0	0	12338	652	23	2	617	2	PPM1E	17	57043078	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	363317	57043078	24152132	7525	28450											
TRIM37	4591	broad.mit.edu	37	chr17	57126630	57126630	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaccaccttcgagaagcAtgtcagagcatgcagacttc	12	8	10	11	1	1	3	1	0	0	3	3	5	1	4	2	1	3	3	2	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:57126630A>G	ENST00000262294.7	-	15	1698	c.1439T>C	c.(1438-1440)aTg>aCg	p.M480T	TRIM37_ENST00000393065.2_Missense_Mutation_p.M446T|TRIM37_ENST00000393066.3_Missense_Mutation_p.M480T|TRIM37_ENST00000376149.3_Missense_Mutation_p.M358T	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	480					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTCGAGAAGCATGTCAGAGCA	0.433									Mulibrey Nanism																													ENST00000376149.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1072-1074)aTg>aCg		tripartite motif containing 37							150	128	135					17																	57126630		2203	4300	6503	SO:0001583	missense	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57126630A>G	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1439T>C	17.37:g.57126630A>G	ENSP00000262294:p.Met480Thr					TRIM37_ENST00000393066.3_Missense_Mutation_p.M480T|TRIM37_ENST00000262294.7_Missense_Mutation_p.M480T|TRIM37_ENST00000393065.2_Missense_Mutation_p.M446T	p.M358T			O94972	TRI37_HUMAN			15	1882	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		480			MATH.		Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.1073T>C	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.842163	0.32513	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.62498	1.78;1.78;0.02;1.39	5.26	4.17	0.49024	.	0.422352	0.23922	N	0.043221	T	0.35856	0.0946	N	0.08118	0	0.28946	N	0.89068	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.21690	-1.0238	10	0.09843	T	0.71	-18.7877	8.8919	0.35439	0.8343:0.0:0.1657:0.0	.	446;358;480	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	T	480;480;358;446	ENSP00000376785:M480T;ENSP00000262294:M480T;ENSP00000365319:M358T;ENSP00000376784:M446T	ENSP00000262294:M480T	M	-	2	0	TRIM37	54481412	0.355000	0.24921	0.998000	0.56505	0.881000	0.50899	1.284000	0.33249	0.825000	0.34637	0.459000	0.35465	ATG		0.433	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		25	83	0	0	0	1	0	25	83					G	57126630	A	G	57126630	3	3	435	1	0	0	0	0	1	0	0	0	16508	217	8	4	1503	4	TRIM37	17	57126630	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	83552	57126630	24068580	7526	28451											
PRR11	55771	broad.mit.edu	37	chr17	57247185	57247185	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattcaaaaaaaaagaagcCtctcactttcagtccaagct	16	11	4	10	0	3	1	3	0	1	1	5	1	4	1	2	0	2	1	2	0	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:57247185C>A	ENST00000262293.4	+	2	384	c.72C>A	c.(70-72)gcC>gcA	p.A24A		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	24						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AAAAAGAAGCCTCTCACTTTC	0.378																																						ENST00000262293.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16						c.(70-72)gcC>gcA		proline rich 11							90	89	90					17																	57247185		2203	4300	6503	SO:0001819	synonymous_variant	55771							g.chr17:57247185C>A		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.72C>A	17.37:g.57247185C>A							p.A24A	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN			2	384	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		24					Q9NUZ7|Q9NXE9	Silent	SNP	ENST00000262293.4	37	c.72C>A	CCDS11614.1																																																																																				0.378	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	NM_018304		36	60	1	0	2.1956e-27	1	2.45572e-27	36	60					A	57247185	C	A	57247185	2	1	435	1	0	0	0	0	0	0	0	1	12583	668	24	5		5	PRR11	17	57247185	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	120555	57247185	23948025	7527	28452											
CLTC	1213	broad.mit.edu	37	chr17	57721655	57721655	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccagaacctgggtatcAacccagcaaacattggcttc	12	8	8	13	0	1	1	1	0	0	1	3	1	2	1	3	2	5	4	3	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:57721655A>G	ENST00000269122.3	+	2	335	c.61A>G	c.(61-63)Aac>Gac	p.N21D	CLTC_ENST00000579456.1_Missense_Mutation_p.N21D|CLTC_ENST00000393043.1_Missense_Mutation_p.N21D	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	21	Globular terminal domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					cctgggtatcaacccagcaaa	0.408			T	"ALK, TFE3"	"ALCL, renal "																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"clathrin, heavy polypeptide (Hc)"			L	"ALK, TFE3"		"ALCL, renal "	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(61-63)Aac>Gac		clathrin, heavy chain (Hc)							49	47	47					17																	57721655		2203	4300	6503	SO:0001583	missense	1213				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	g.chr17:57721655A>G	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.61A>G	17.37:g.57721655A>G	ENSP00000269122:p.Asn21Asp					CLTC_ENST00000393043.1_Missense_Mutation_p.N21D|CLTC_ENST00000579456.1_Missense_Mutation_p.N21D	p.N21D	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			2	335	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		21			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.61A>G	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251331	0.80135	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.21361	2.01;2.01	5.48	5.48	0.80851	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	M	0.64080	1.96	0.31833	N	0.62443	D;B	0.56968	0.978;0.001	D;B	0.77557	0.99;0.009	T	0.48055	-0.9068	10	0.25751	T	0.34	.	15.566	0.76294	1.0:0.0:0.0:0.0	.	21;21	Q00610;Q00610-2	CLH1_HUMAN;.	D	21	ENSP00000269122:N21D;ENSP00000376763:N21D	ENSP00000269122:N21D	N	+	1	0	CLTC	55076437	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.335000	0.96500	2.061000	0.61500	0.482000	0.46254	AAC		0.408	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		44	5	0	0	0	1	0	44	5					G	57721655	A	G	57721655	3	3	435	1	0	0	0	0	1	0	0	0	3566	130	5	4	67	4	CLTC	17	57721655	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	474470	57721655	23473555	7528	28453											
CLTC	1213	broad.mit.edu	37	chr17	57724940	57724940	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagtgaaaatgtttgatcgCcattctagccttgcagggtg	9	12	11	9	1	1	2	0	2	1	0	2	2	1	2	3	1	2	2	3	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:57724940C>T	ENST00000269122.3	+	3	706	c.432C>T	c.(430-432)cgC>cgT	p.R144R	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Silent_p.R144R	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	144	Globular terminal domain.|WD40-like repeat 3.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGTTTGATCGCCATTCTAGCC	0.413			T	"ALK, TFE3"	"ALCL, renal "																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"clathrin, heavy polypeptide (Hc)"			L	"ALK, TFE3"		"ALCL, renal "	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(430-432)cgC>cgT		clathrin, heavy chain (Hc)							168	155	159					17																	57724940		2203	4300	6503	SO:0001819	synonymous_variant	1213				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	g.chr17:57724940C>T	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.432C>T	17.37:g.57724940C>T						CLTC_ENST00000393043.1_Silent_p.R144R|CLTC_ENST00000579456.1_Intron	p.R144R	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			3	706	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		144			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Silent	SNP	ENST00000269122.3	37	c.432C>T	CCDS32696.1																																																																																				0.413	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		29	68	0	0	0	1	0	29	68					T	57724940	C	T	57724940	2	4	435	1	0	0	0	0	0	0	0	1	3566	726	26	3		3	CLTC	17	57724940	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3285	57724940	23470270	7529	28454											
CLTC	1213	broad.mit.edu	37	chr17	57751078	57751078	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactttgtccatgatttggTgctctatttatatagaaata	11	18	7	5	0	1	3	0	2	1	1	2	3	2	3	1	1	1	1	1	1	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:57751078T>C	ENST00000269122.3	+	15	2637	c.2363T>C	c.(2362-2364)gTg>gCg	p.V788A	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.V788A|CLTC_ENST00000579815.1_3'UTR	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	788	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CATGATTTGGTGCTCTATTTA	0.294			T	"ALK, TFE3"	"ALCL, renal "																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"clathrin, heavy polypeptide (Hc)"			L	"ALK, TFE3"		"ALCL, renal "	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(2362-2364)gTg>gCg		clathrin, heavy chain (Hc)							54	53	54					17																	57751078		2203	4300	6503	SO:0001583	missense	1213				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	g.chr17:57751078T>C	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2363T>C	17.37:g.57751078T>C	ENSP00000269122:p.Val788Ala					CLTC_ENST00000393043.1_Missense_Mutation_p.V788A|CLTC_ENST00000579456.1_Intron|CLTC_ENST00000579815.1_3'UTR	p.V788A	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			15	2637	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		788			Heavy chain arm.|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.2363T>C	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.710674	0.89112	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.20069	2.1;2.1	5.36	5.36	0.76844	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	L	0.60067	1.865	0.80722	D	1	D;B	0.63046	0.992;0.232	D;P	0.80764	0.994;0.56	T	0.27872	-1.0061	10	0.54805	T	0.06	.	15.6517	0.77099	0.0:0.0:0.0:1.0	.	788;788	Q00610;Q00610-2	CLH1_HUMAN;.	A	788	ENSP00000269122:V788A;ENSP00000376763:V788A	ENSP00000269122:V788A	V	+	2	0	CLTC	55105860	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.924000	0.87555	2.155000	0.67459	0.377000	0.23210	GTG		0.294	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		17	22	0	0	0	1	0	17	22					C	57751078	T	C	57751078	3	2	435	1	0	0	0	0	1	0	0	0	3566	1696	59	4	2421	4	CLTC	17	57751078	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	26138	57751078	23444132	7530	28455											
PTRH2	51651	broad.mit.edu	37	chr17	57774844	57774844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactttgtcaattaggtctgCtggtcctggcccaatcccta	7	13	9	12	0	2	0	1	0	1	0	4	1	4	0	3	3	1	1	3	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:57774844C>T	ENST00000470557.2	-	1	3942	c.496G>A	c.(496-498)Gca>Aca	p.A166T	PTRH2_ENST00000537860.1_Missense_Mutation_p.A166T|PTRH2_ENST00000393038.2_Missense_Mutation_p.A166T|PTRH2_ENST00000409433.2_Missense_Mutation_p.A167T|PTRH2_ENST00000579915.1_5'Flank			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	166					apoptotic process (GO:0006915)|negative regulation of anoikis (GO:2000811)|negative regulation of gene expression (GO:0010629)|positive regulation of anoikis (GO:2000210)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATTAGGTCTGCTGGTCCTGGC	0.453																																						ENST00000470557.2																			0				large_intestine(1)	1						c.(496-498)Gca>Aca		peptidyl-tRNA hydrolase 2							80	76	78					17																	57774844		2203	4300	6503	SO:0001583	missense	51651				apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity	g.chr17:57774844C>T	AF151905	CCDS11618.1	17q23.2	2014-07-18			ENSG00000141378	ENSG00000141378			24265	protein-coding gene	gene with protein product	"Bcl-2 inhibitor of transcription", "cilia and flagella associated protein 37"	608625				10810093, 15006356, 14660562	Standard	XM_005257447		Approved	BIT1, CGI-147, PTH2, CFAP37	uc002ixt.3	Q9Y3E5	OTTHUMG00000154532	ENST00000470557.2:c.496G>A	17.37:g.57774844C>T	ENSP00000464327:p.Ala166Thr					PTRH2_ENST00000409433.2_Missense_Mutation_p.A167T|PTRH2_ENST00000537860.1_Missense_Mutation_p.A166T|PTRH2_ENST00000393038.2_Missense_Mutation_p.A166T	p.A166T			Q9Y3E5	PTH2_HUMAN			1	3942	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		166					B3KUY4|Q9NTE5	Missense_Mutation	SNP	ENST00000470557.2	37	c.496G>A	CCDS11618.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164503	0.78339	.	.	ENSG00000141378	ENST00000393038;ENST00000409433;ENST00000537860	.	.	.	5.82	5.82	0.92795	Peptidyl-tRNA hydrolase II domain (2);	0.136532	0.48767	U	0.000175	T	0.59321	0.2185	L	0.55481	1.735	0.80722	D	1	B	0.30211	0.273	B	0.27076	0.076	T	0.54470	-0.8289	9	0.20046	T	0.44	-0.5042	20.0953	0.97838	0.0:1.0:0.0:0.0	.	166	Q9Y3E5	PTH2_HUMAN	T	166;167;166	.	ENSP00000376758:A166T	A	-	1	0	PTRH2	55129626	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.861000	0.62969	2.767000	0.95098	0.655000	0.94253	GCA		0.453	PTRH2-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000448482.1	NM_016077		13	38	0	0	0	1	0	13	38					T	57774844	C	T	57774844	3	4	435	1	0	0	0	0	1	0	0	0	12817	797	28	3	47	3	PTRH2	17	57774844	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	23766	57774844	23420366	7531	28456											
TUBD1	51174	broad.mit.edu	37	chr17	57952052	57952052	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatggggaactaaatgcTccattaagtctcctgtaaag	13	10	10	8	0	1	0	0	0	1	0	3	2	2	2	2	3	2	2	2	3	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:57952052T>C	ENST00000592426.1	-	5	782	c.782A>G	c.(781-783)gAg>gGg	p.E261G	TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.E261G|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000325752.3_Missense_Mutation_p.E261G|TUBD1_ENST00000539018.1_Missense_Mutation_p.E45G|TUBD1_ENST00000340993.6_Intron			Q9UJT1	TBD_HUMAN	tubulin, delta 1	261					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			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)		Vinblastine(DB00570)	AACTAAATGCTCCATTAAGTC	0.348																																						ENST00000325752.3																			0				NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21						c.(781-783)gAg>gGg		tubulin, delta 1							125	120	122					17																	57952052		2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57952052T>C	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"Tubulins"	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.782A>G	17.37:g.57952052T>C	ENSP00000468518:p.Glu261Gly					TUBD1_ENST00000340993.6_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.E261G|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000539018.1_Missense_Mutation_p.E45G|TUBD1_ENST00000592426.1_Missense_Mutation_p.E261G	p.E261G	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		6	1059	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		261					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.782A>G	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.027282	0.35797	.	.	ENSG00000108423	ENST00000325752;ENST00000394239;ENST00000539018	T;T	0.77620	-1.11;-0.8	5.62	4.47	0.54385	Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.318936	0.41294	D	0.000905	T	0.75027	0.3794	M	0.62723	1.935	0.37135	D	0.901459	B;B	0.20780	0.012;0.048	B;B	0.19148	0.022;0.024	T	0.78298	-0.2258	10	0.72032	D	0.01	-17.087	13.9979	0.64414	0.0:0.0:0.1343:0.8657	.	261;261	E9PCA7;Q9UJT1	.;TBD_HUMAN	G	261;261;45	ENSP00000320797:E261G;ENSP00000377785:E261G	ENSP00000320797:E261G	E	-	2	0	TUBD1	55306834	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.654000	0.54453	2.142000	0.66516	0.460000	0.39030	GAG		0.348	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		41	68	0	0	0	1	0	41	68					C	57952052	T	C	57952052	3	2	435	1	0	0	0	0	1	0	0	0	16759	1551	54	4	595	4	TUBD1	17	57952052	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	177208	57952052	23243158	7532	28457											
HEATR6	63897	broad.mit.edu	37	chr17	58150574	58150574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcagctctcctgacttcagGatcagactgagccaagtcac	10	9	9	13	0	4	3	3	2	1	1	5	4	4	4	2	1	3	2	2	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:58150574G>A	ENST00000184956.6	-	4	551	c.535C>T	c.(535-537)Cct>Tct	p.P179S	HEATR6_ENST00000585976.1_Missense_Mutation_p.P179S	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	179							poly(A) RNA binding (GO:0044822)			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)			CTGACTTCAGGATCAGACTGA	0.428																																						ENST00000184956.6																			0				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						c.(535-537)Cct>Tct		HEAT repeat containing 6							120	111	114					17																	58150574		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58150574G>A	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.535C>T	17.37:g.58150574G>A	ENSP00000184956:p.Pro179Ser					HEATR6_ENST00000585976.1_Missense_Mutation_p.P179S	p.P179S	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		4	551	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		179					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.535C>T	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368716	0.42003	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.66815	-0.23	5.15	4.16	0.48862	Armadillo-like helical (1);Armadillo-type fold (1);	0.600791	0.18663	N	0.134674	T	0.59059	0.2166	L	0.60455	1.87	0.23186	N	0.998158	B;B	0.31730	0.047;0.337	B;B	0.22880	0.025;0.042	T	0.56583	-0.7955	10	0.62326	D	0.03	-5.4429	10.6045	0.45386	0.0:0.2654:0.5976:0.137	.	26;179	E7ESB9;Q6AI08	.;HEAT6_HUMAN	S	179;26	ENSP00000184956:P179S	ENSP00000184956:P179S	P	-	1	0	HEATR6	55505356	0.997000	0.39634	1.000000	0.80357	0.890000	0.51754	1.261000	0.32980	1.289000	0.44618	0.478000	0.44815	CCT		0.428	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		22	35	0	0	0	1	0	22	35					A	58150574	G	A	58150574	3	1	435	1	0	0	0	0	1	0	0	0	7033	1174	41	3	3078	3	HEATR6	17	58150574	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	198522	58150574	23044636	7533	28458											
CA4	762	broad.mit.edu	37	chr17	58235717	58235717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaaactgaggcactacttCcgctacctgggctcactcac	10	8	9	14	1	2	2	2	1	0	1	3	3	3	2	2	2	3	3	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:58235717C>A	ENST00000300900.4	+	7	753	c.654C>A	c.(652-654)ttC>ttA	p.F218L		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	218					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			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)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GGCACTACTTCCGCTACCTGG	0.577																																						ENST00000300900.4																			0				kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(652-654)ttC>ttA		carbonic anhydrase IV	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						120	87	98					17																	58235717		2203	4300	6503	SO:0001583	missense	762				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	g.chr17:58235717C>A	L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"Carbonic anhydrases"	1375	protein-coding gene	gene with protein product		114760	"retinitis pigmentosa 17 (autosomal dominant)"	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.654C>A	17.37:g.58235717C>A	ENSP00000300900:p.Phe218Leu						p.F218L	NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		7	753	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		218					B4DQA4|Q6FHI7	Missense_Mutation	SNP	ENST00000300900.4	37	c.654C>A	CCDS11624.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413888	0.83449	.	.	ENSG00000167434	ENST00000300900	T	0.69806	-0.43	5.54	4.57	0.56435	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.226336	0.47093	D	0.000257	T	0.80428	0.4621	M	0.86651	2.83	0.47949	D	0.999552	D	0.76494	0.999	P	0.61658	0.892	T	0.82721	-0.0317	10	0.66056	D	0.02	.	10.2679	0.43466	0.0:0.9088:0.0:0.0912	.	218	P22748	CAH4_HUMAN	L	218	ENSP00000300900:F218L	ENSP00000300900:F218L	F	+	3	2	CA4	55590499	0.998000	0.40836	1.000000	0.80357	0.907000	0.53573	1.464000	0.35288	1.321000	0.45227	0.491000	0.48974	TTC		0.577	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449189.1	NM_000717		15	14	1	0	1.3612e-06	1	1.41782e-06	15	14					A	58235717	C	A	58235717	3	1	435	1	0	0	0	0	1	0	0	0	2518	854	30	5	680	5	CA4	17	58235717	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	85143	58235717	22959493	7534	28459											
USP32	84669	broad.mit.edu	37	chr17	58275733	58275733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgggtatgcacagtacatgGaacaatcaatggcattccaa	14	8	9	10	1	1	0	1	0	0	0	2	1	2	1	2	3	3	4	2	3	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:58275733G>A	ENST00000300896.4	-	27	3516	c.3322C>T	c.(3322-3324)Cca>Tca	p.P1108S	USP32_ENST00000592339.1_Missense_Mutation_p.P778S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1108	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACAGTACATGGAACAATCAAT	0.458																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(3322-3324)Cca>Tca		ubiquitin specific peptidase 32							168	152	157					17																	58275733		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58275733G>A	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.3322C>T	17.37:g.58275733G>A	ENSP00000300896:p.Pro1108Ser					USP32_ENST00000592339.1_Missense_Mutation_p.P778S	p.P1108S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		27	3516	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1108					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.3322C>T	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913906	0.92178	.	.	ENSG00000170832	ENST00000300896	T	0.46451	0.87	5.01	5.01	0.66863	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	N	0.21282	0.65	0.80722	D	1	P	0.40282	0.711	P	0.47134	0.539	T	0.10613	-1.0622	10	0.19590	T	0.45	.	18.3007	0.90163	0.0:0.0:1.0:0.0	.	1108	Q8NFA0	UBP32_HUMAN	S	1108	ENSP00000300896:P1108S	ENSP00000300896:P1108S	P	-	1	0	USP32	55630515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.761000	0.98940	2.289000	0.77006	0.561000	0.74099	CCA		0.458	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		34	44	0	0	0	1	0	34	44					A	58275733	G	A	58275733	3	1	435	1	0	0	0	0	1	0	0	0	17060	1174	41	3	1524	3	USP32	17	58275733	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	40016	58275733	22919477	7535	28460											
USP32	84669	broad.mit.edu	37	chr17	58286900	58286900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggagcatattttgctatgGtccactataaatataagaga	14	13	9	5	0	0	1	0	0	0	1	1	3	1	2	1	2	2	2	1	2	7	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:58286900G>A	ENST00000300896.4	-	22	2623	c.2429C>T	c.(2428-2430)aCc>aTc	p.T810I	USP32_ENST00000592339.1_Missense_Mutation_p.T480I	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	810	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TTTTGCTATGGTCCACTATAA	0.368																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(2428-2430)aCc>aTc		ubiquitin specific peptidase 32							66	66	66					17																	58286900		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58286900G>A	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2429C>T	17.37:g.58286900G>A	ENSP00000300896:p.Thr810Ile					USP32_ENST00000592339.1_Missense_Mutation_p.T480I	p.T810I	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		22	2623	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		810					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.2429C>T	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653052	0.88056	.	.	ENSG00000170832	ENST00000300896	T	0.30981	1.51	5.2	5.2	0.72013	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.39462	0.1079	L	0.31371	0.925	0.80722	D	1	P	0.36495	0.556	P	0.51833	0.681	T	0.08027	-1.0742	10	0.22109	T	0.4	.	18.7434	0.91782	0.0:0.0:1.0:0.0	.	810	Q8NFA0	UBP32_HUMAN	I	810	ENSP00000300896:T810I	ENSP00000300896:T810I	T	-	2	0	USP32	55641682	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.501000	0.97979	2.422000	0.82143	0.655000	0.94253	ACC		0.368	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		45	55	0	0	0	1	0	45	55					A	58286900	G	A	58286900	3	1	435	1	0	0	0	0	1	0	0	0	17060	1261	44	3	2437	3	USP32	17	58286900	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11167	58286900	22908310	7536	28461											
TBX4	9496	broad.mit.edu	37	chr17	59560514	59560514	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtggacttcagtgtcgccGtacaccagctatagcgtgca	9	10	11	11	3	1	0	1	0	0	0	2	1	1	1	2	1	4	3	2	1	3	4	rs370669286		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:59560514G>A	ENST00000240335.1	+	8	1320	c.1275G>A	c.(1273-1275)ccG>ccA	p.P425P	TBX4_ENST00000393853.4_Silent_p.P426P|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	425					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						CAGTGTCGCCGTACACCAGCT	0.627																																						ENST00000393853.4																			0				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						c.(1276-1278)ccG>ccA		T-box 4		G		0,4406		0,0,2203	101	88	92		1275	-3.4	0.9	17		92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TBX4	NM_018488.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		425/546	59560514	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59560514G>A	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"T-boxes"	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1275G>A	17.37:g.59560514G>A						TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Silent_p.P425P	p.P426P			P57082	TBX4_HUMAN			9	1441	+			425					A5PKU7|B2RMT1|B7ZLV3	Silent	SNP	ENST00000240335.1	37	c.1278G>A	CCDS11629.1																																																																																				0.627	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		19	31	0	0	0	1	0	19	31					A	59560514	G	A	59560514	2	1	435	1	0	0	0	0	0	0	0	1	15657	1132	40	1		1	TBX4	17	59560514	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1273614	59560514	21634696	7537	28462											
BRIP1	83990	broad.mit.edu	37	chr17	59878708	59878708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggctgtgtaatatggacagGcctttagtttcttccccagg	7	13	12	9	0	1	0	0	0	1	0	2	1	2	1	3	4	0	3	3	4	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:59878708G>A	ENST00000259008.2	-	8	1313	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	BRIP1_ENST00000577598.1_Missense_Mutation_p.A349V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	349	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		A -> P (in FANCJ; destabilizes iron- sulfur-binding and abolishes helicase activity). {ECO:0000269|PubMed:16116424, ECO:0000269|PubMed:20639400}.		DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						ATATGGACAGGCCTTTAGTTT	0.408			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	"F, N, Mis"	BRCA1 interacting protein C-terminal helicase 1			"L, E"		"AML, leukemia, breast"			0				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						c.(1045-1047)gCc>gTc	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							236	231	233					17																	59878708		2203	4300	6503	SO:0001583	missense	83990				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	g.chr17:59878708G>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.1046C>T	17.37:g.59878708G>A	ENSP00000259008:p.Ala349Val					BRIP1_ENST00000577598.1_Missense_Mutation_p.A349V	p.A349V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			8	1313	-			349		A -> P (in FANCJ).	Helicase ATP-binding.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.1046C>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058149	0.76074	.	.	ENSG00000136492	ENST00000259008	T	0.69561	-0.41	5.0	5.0	0.66597	DEAD-like helicase (1);DEAD2 (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.244722	0.41194	D	0.000924	T	0.70116	0.3187	L	0.35793	1.09	0.36734	D	0.881856	D	0.63880	0.993	P	0.56278	0.795	T	0.72808	-0.4181	9	.	.	.	-5.1017	17.6345	0.88118	0.0:0.0:1.0:0.0	.	349	Q9BX63	FANCJ_HUMAN	V	349	ENSP00000259008:A349V	.	A	-	2	0	BRIP1	57233490	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.986000	0.70563	2.472000	0.83506	0.462000	0.41574	GCC		0.408	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		60	74	0	0	0	1	0	60	74					A	59878708	G	A	59878708	3	1	435	1	0	0	0	0	1	0	0	0	1514	1203	42	3	2755	3	BRIP1	17	59878708	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	318194	59878708	21316502	7538	28463											
INTS2	57508	broad.mit.edu	37	chr17	60003749	60003749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctggcatcttgttctaaaGcatgaaagtccacggacaac	12	10	9	10	1	2	1	0	1	2	0	3	2	3	2	1	2	3	4	1	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:60003749G>A	ENST00000444766.3	-	2	356	c.281C>T	c.(280-282)gCt>gTt	p.A94V	INTS2_ENST00000251334.6_Missense_Mutation_p.A86V	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	94					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TTGTTCTAAAGCATGAAAGTC	0.403																																						ENST00000444766.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(280-282)gCt>gTt		integrator complex subunit 2							98	94	96					17																	60003749		1903	4124	6027	SO:0001583	missense	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:60003749G>A	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.281C>T	17.37:g.60003749G>A	ENSP00000414237:p.Ala94Val					INTS2_ENST00000251334.6_Missense_Mutation_p.A86V	p.A94V	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN			2	356	-			94					Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	c.281C>T	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668925	0.67814	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.46063	0.88	5.68	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	L	0.46157	1.445	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.12760	-1.0535	9	.	.	.	-14.1376	14.6116	0.68519	0.0698:0.0:0.9302:0.0	.	94	Q9H0H0	INT2_HUMAN	V	94;93	ENSP00000414237:A94V	.	A	-	2	0	INTS2	57358531	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	9.393000	0.97256	1.416000	0.47057	0.561000	0.74099	GCT		0.403	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		19	28	0	0	0	1	0	19	28					A	60003749	G	A	60003749	3	1	435	1	0	0	0	0	1	0	0	0	7778	971	34	3	3429	3	INTS2	17	60003749	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	125041	60003749	21191461	7539	28464											
MED13	9969	broad.mit.edu	37	chr17	60028341	60028341	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggttctgttgatagtaGccgatcagtactctgaccct	9	13	10	9	1	3	3	1	3	2	0	3	4	3	3	2	1	2	4	2	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:60028341G>A	ENST00000397786.2	-	28	6212	c.6136C>T	c.(6136-6138)Cta>Tta	p.L2046L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2046					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			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						GTTGATAGTAGCCGATCAGTA	0.383																																						ENST00000397786.2																			0				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						c.(6136-6138)Cta>Tta		mediator complex subunit 13							110	98	102					17																	60028341		1890	4134	6024	SO:0001819	synonymous_variant	9969				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	g.chr17:60028341G>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6136C>T	17.37:g.60028341G>A							p.L2046L	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			28	6212	-			2046					B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	c.6136C>T	CCDS42366.1																																																																																				0.383	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		28	37	0	0	0	1	0	28	37					A	60028341	G	A	60028341	2	1	435	1	0	0	0	0	0	0	0	1	9430	962	34	3		3	MED13	17	60028341	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24592	60028341	21166869	7540	28465											
MED13	9969	broad.mit.edu	37	chr17	60062070	60062070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacctcaattttgaactgcGctcctatactagaactattt	12	14	4	11	1	1	2	1	1	0	1	2	2	2	2	2	0	5	1	2	0	8	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:60062070G>A	ENST00000397786.2	-	14	2709	c.2633C>T	c.(2632-2634)gCg>gTg	p.A878V		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	878					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			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						TTTGAACTGCGCTCCTATACT	0.338																																						ENST00000397786.2																			0				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						c.(2632-2634)gCg>gTg		mediator complex subunit 13							94	86	88					17																	60062070		1817	4070	5887	SO:0001583	missense	9969				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	g.chr17:60062070G>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2633C>T	17.37:g.60062070G>A	ENSP00000380888:p.Ala878Val						p.A878V	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			14	2709	-			878					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.2633C>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350176	0.41599	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.73363	-0.74	6.06	6.06	0.98353	.	0.268407	0.43110	D	0.000616	T	0.60728	0.2291	N	0.19112	0.55	0.31176	N	0.702653	B	0.18863	0.031	B	0.14023	0.01	T	0.58002	-0.7713	10	0.26408	T	0.33	-7.1173	14.7494	0.69513	0.0685:0.0:0.9315:0.0	.	878	Q9UHV7	MED13_HUMAN	V	878;877	ENSP00000380888:A878V	ENSP00000262436:A877V	A	-	2	0	MED13	57416852	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.720000	0.61944	2.880000	0.98712	0.650000	0.86243	GCG		0.338	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		18	52	0	0	0	1	0	18	52					A	60062070	G	A	60062070	3	1	435	1	0	0	0	0	1	0	0	0	9430	1087	38	1	3959	1	MED13	17	60062070	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33729	60062070	21133140	7541	28466											
TLK2	11011	broad.mit.edu	37	chr17	60685410	60685410	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttatgtgacagccttttggCcataaccagtctcagcaaga	11	12	8	10	0	1	2	1	1	1	1	2	2	1	2	3	1	3	1	3	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:60685410C>T	ENST00000326270.9	+	22	2314	c.2046C>T	c.(2044-2046)ggC>ggT	p.G682G	TLK2_ENST00000582809.1_Silent_p.G511G|TLK2_ENST00000542523.1_Silent_p.G628G|TLK2_ENST00000346027.5_Silent_p.G660G|TLK2_ENST00000343388.7_Silent_p.G628G	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	682	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AGCCTTTTGGCCATAACCAGT	0.403																																						ENST00000582809.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(1531-1533)ggC>ggT		tousled-like kinase 2							61	63	62					17																	60685410		2203	4300	6503	SO:0001819	synonymous_variant	11011				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	g.chr17:60685410C>T	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.2046C>T	17.37:g.60685410C>T						TLK2_ENST00000326270.9_Silent_p.G682G|TLK2_ENST00000542523.1_Silent_p.G628G|TLK2_ENST00000346027.5_Silent_p.G660G|TLK2_ENST00000343388.7_Silent_p.G628G	p.G511G			Q86UE8	TLK2_HUMAN			22	2236	+			682			Protein kinase.		D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	ENST00000326270.9	37	c.1533C>T																																																																																					0.403	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		15	27	0	0	0	1	0	15	27					T	60685410	C	T	60685410	2	4	435	1	0	0	0	0	0	0	0	1	15941	726	26	3		3	TLK2	17	60685410	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	623340	60685410	20509800	7542	28467											
MRC2	9902	broad.mit.edu	37	chr17	60749095	60749095	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgcaggccgagaagcgCagctggcaggagtccaagaa	11	3	15	12	3	0	2	0	0	0	2	1	4	1	3	3	3	3	4	3	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:60749095C>T	ENST00000303375.5	+	7	1605	c.1203C>T	c.(1201-1203)cgC>cgT	p.R401R		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	401	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCGAGAAGCGCAGCTGGCAGG	0.627																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(1201-1203)cgC>cgT		mannose receptor, C type 2							54	50	51					17																	60749095		2203	4300	6503	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60749095C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.1203C>T	17.37:g.60749095C>T							p.R401R	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			7	1605	+			401			C-type lectin 2.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.1203C>T	CCDS11634.1																																																																																				0.627	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			6	18	0	0	0	1	0	6	18					T	60749095	C	T	60749095	2	4	435	1	0	0	0	0	0	0	0	1	9758	697	25	3		3	MRC2	17	60749095	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	63685	60749095	20446115	7543	28468											
MRC2	9902	broad.mit.edu	37	chr17	60757603	60757603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgtgcggtgctggacctgGcctccctgcagtgggtggcc	2	9	17	13	1	0	0	0	0	0	0	1	1	1	1	4	5	3	3	4	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:60757603G>A	ENST00000303375.5	+	15	2773	c.2371G>A	c.(2371-2373)Gcc>Acc	p.A791T	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	791	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCTGGACCTGGCCTCCCTGCA	0.652																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(2371-2373)Gcc>Acc		mannose receptor, C type 2							61	57	59					17																	60757603		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60757603G>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2371G>A	17.37:g.60757603G>A	ENSP00000307513:p.Ala791Thr						p.A791T	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			15	2773	+			791			C-type lectin 4.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.2371G>A	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558765	0.86231	.	.	ENSG00000011028	ENST00000303375	T	0.18810	2.19	5.41	4.44	0.53790	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.183587	0.48286	N	0.000183	T	0.21062	0.0507	N	0.17800	0.525	0.80722	D	1	D	0.54207	0.965	P	0.57960	0.83	T	0.06445	-1.0826	10	0.13853	T	0.58	-26.089	8.8013	0.34909	0.0752:0.0:0.7754:0.1495	.	791	Q9UBG0	MRC2_HUMAN	T	791	ENSP00000307513:A791T	ENSP00000307513:A791T	A	+	1	0	MRC2	58111335	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	6.082000	0.71318	1.287000	0.44583	0.305000	0.20034	GCC		0.652	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			5	12	0	0	0	1	0	5	12					A	60757603	G	A	60757603	3	1	435	1	0	0	0	0	1	0	0	0	9758	1203	42	3	2429	3	MRC2	17	60757603	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8508	60757603	20437607	7544	28469											
MRC2	9902	broad.mit.edu	37	chr17	60767659	60767659	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggaggcgcgacagcgctgCcagagaggtgggtgaccagg	10	3	19	9	3	0	2	0	1	0	1	0	5	0	3	2	5	2	1	2	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:60767659C>T	ENST00000303375.5	+	26	4287	c.3885C>T	c.(3883-3885)tgC>tgT	p.C1295C	MRC2_ENST00000446119.2_Silent_p.C161C	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1295	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GACAGCGCTGCCAGAGAGGTG	0.642																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(3883-3885)tgC>tgT		mannose receptor, C type 2							23	28	26					17																	60767659		2203	4299	6502	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60767659C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3885C>T	17.37:g.60767659C>T						MRC2_ENST00000446119.2_Silent_p.C161C	p.C1295C	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			26	4287	+			1295			C-type lectin 8.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.3885C>T	CCDS11634.1																																																																																				0.642	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			4	16	0	0	0	1	0	4	16					T	60767659	C	T	60767659	2	4	435	1	0	0	0	0	0	0	0	1	9758	747	26	3		3	MRC2	17	60767659	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10056	60767659	20427551	7545	28470											
TANC2	26115	broad.mit.edu	37	chr17	61466675	61466675	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttatttctaggtcagcCgactgctgattttgggaggt	6	17	12	6	1	2	1	1	1	1	0	2	3	2	2	1	3	2	2	1	3	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61466675C>T	ENST00000424789.2	+	15	2603	c.2599C>T	c.(2599-2601)Cga>Tga	p.R867*	AC015923.1_ENST00000431604.1_RNA|RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Nonsense_Mutation_p.R867*	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	867					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTAGGTCAGCCGACTGCTGAT	0.358																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(2599-2601)Cga>Tga		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							109	102	104					17																	61466675		1832	4089	5921	SO:0001587	stop_gained	26115						binding	g.chr17:61466675C>T	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.2599C>T	17.37:g.61466675C>T	ENSP00000387593:p.Arg867*					TANC2_ENST00000389520.4_Nonsense_Mutation_p.R867*|AC015923.1_ENST00000431604.1_RNA	p.R867*	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			15	2603	+			867					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Nonsense_Mutation	SNP	ENST00000424789.2	37	c.2599C>T	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	40	8.365554	0.98779	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	.	.	.	5.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8492	0.70284	0.1492:0.8508:0.0:0.0	.	.	.	.	X	867	.	ENSP00000374171:R867X	R	+	1	2	TANC2	58820407	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.937000	0.56575	1.171000	0.42768	0.561000	0.74099	CGA		0.358	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			6	21	0	0	0	1	0	6	21					T	61466675	C	T	61466675	4	4	435	1	0	0	0	0	0	1	0	0	15542	644	23	2	2657	2	TANC2	17	61466675	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	699016	61466675	19728535	7546	28471											
TANC2	26115	broad.mit.edu	37	chr17	61498026	61498026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcccagtctggttcaccCgtgcgctatcagcaggaaac	10	8	10	13	2	3	1	2	0	1	1	4	2	4	2	2	2	3	3	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61498026C>T	ENST00000424789.2	+	25	4687	c.4683C>T	c.(4681-4683)ccC>ccT	p.P1561P	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.P1571P	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1561					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTGGTTCACCCGTGCGCTATC	0.582																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(4681-4683)ccC>ccT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							39	40	40					17																	61498026		1949	4156	6105	SO:0001819	synonymous_variant	26115						binding	g.chr17:61498026C>T	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4683C>T	17.37:g.61498026C>T						TANC2_ENST00000389520.4_Silent_p.P1571P|RP11-269G24.3_ENST00000583552.1_RNA	p.P1561P	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			25	4687	+			1561					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	c.4683C>T	CCDS45754.1																																																																																				0.582	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			12	8	0	0	0	1	0	12	8					T	61498026	C	T	61498026	2	4	435	1	0	0	0	0	0	0	0	1	15542	639	23	2		2	TANC2	17	61498026	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31351	61498026	19697184	7547	28472											
TANC2	26115	broad.mit.edu	37	chr17	61499109	61499109	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggacgattattacagcccCcatgggatgctggctaacgg	10	8	13	10	2	0	0	0	0	0	0	0	4	0	2	2	4	4	2	2	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61499109C>T	ENST00000424789.2	+	25	5770	c.5766C>T	c.(5764-5766)ccC>ccT	p.P1922P	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.P1932P	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1922					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ATTACAGCCCCCATGGGATGC	0.527																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(5764-5766)ccC>ccT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							78	77	78					17																	61499109		2012	4180	6192	SO:0001819	synonymous_variant	26115						binding	g.chr17:61499109C>T	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.5766C>T	17.37:g.61499109C>T						TANC2_ENST00000389520.4_Silent_p.P1932P|RP11-269G24.3_ENST00000583552.1_RNA	p.P1922P	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			25	5770	+			1922					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	c.5766C>T	CCDS45754.1																																																																																				0.527	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			3	39	0	0	0	1	0	3	39					T	61499109	C	T	61499109	2	4	435	1	0	0	0	0	0	0	0	1	15542	610	22	3		3	TANC2	17	61499109	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1083	61499109	19696101	7548	28473											
ACE	1636	broad.mit.edu	37	chr17	61556409	61556409	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcaggatctactccacCgccaaggtctgcctccccaa	10	7	8	16	1	2	1	0	1	2	0	4	2	4	2	6	2	3	1	6	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61556409C>T	ENST00000290866.4	+	3	483	c.459C>T	c.(457-459)acC>acT	p.T153T	ACE_ENST00000428043.1_Silent_p.T153T|ACE_ENST00000538928.1_Silent_p.T153T|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	153	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			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)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCTACTCCACCGCCAAGGTCT	0.632											OREG0024639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000290866.4																			0				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						c.(457-459)acC>acT		angiotensin I converting enzyme	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)						123	79	94					17																	61556409		2203	4300	6503	SO:0001819	synonymous_variant	1636				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	g.chr17:61556409C>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.459C>T	17.37:g.61556409C>T			OREG0024639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1054	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Silent_p.T153T|ACE_ENST00000538928.1_Silent_p.T153T	p.T153T	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			3	483	+			153			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	ENST00000290866.4	37	c.459C>T	CCDS11637.1																																																																																				0.632	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			6	12	0	0	0	1	0	6	12					T	61556409	C	T	61556409	2	4	435	1	0	0	0	0	0	0	0	1	136	639	23	2		2	ACE	17	61556409	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	57300	61556409	19638801	7549	28474											
ACE	1636	broad.mit.edu	37	chr17	61557711	61557711	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccaggcttcacagacacGggggcctactggcgctcctg	6	6	12	17	2	1	1	1	0	0	1	2	1	2	1	4	4	1	2	4	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61557711G>T	ENST00000290866.4	+	5	693	c.669G>T	c.(667-669)acG>acT	p.T223T	ACE_ENST00000428043.1_Silent_p.T223T|ACE_ENST00000538928.1_Silent_p.T223T|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	223	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			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)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCACAGACACGGGGGCCTACT	0.612																																						ENST00000290866.4																			0				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						c.(667-669)acG>acT		angiotensin I converting enzyme	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)						87	79	82					17																	61557711		2203	4300	6503	SO:0001819	synonymous_variant	1636				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	g.chr17:61557711G>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.669G>T	17.37:g.61557711G>T						ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Silent_p.T223T|ACE_ENST00000538928.1_Silent_p.T223T	p.T223T	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			5	693	+			223			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	ENST00000290866.4	37	c.669G>T	CCDS11637.1																																																																																				0.612	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			7	15	1	0	1.12685e-05	1	1.16601e-05	7	15					T	61557711	G	T	61557711	2	4	435	1	0	0	0	0	0	0	0	1	136	1103	39	5		5	ACE	17	61557711	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1302	61557711	19637499	7550	28475											
ACE	1636	broad.mit.edu	37	chr17	61574235	61574235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccagcccaacatgagcGcctcggccatgttgagctac	8	6	12	15	3	0	2	0	2	0	0	1	2	0	2	4	2	5	2	4	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61574235G>A	ENST00000290866.4	+	24	3604	c.3580G>A	c.(3580-3582)Gcc>Acc	p.A1194T	ACE_ENST00000428043.1_Intron|ACE_ENST00000290863.6_Missense_Mutation_p.A620T|ACE_ENST00000577647.1_Missense_Mutation_p.A620T|ACE_ENST00000421982.2_Missense_Mutation_p.A399T|ACE_ENST00000413513.3_Missense_Mutation_p.A579T|ACE_ENST00000490216.2_Missense_Mutation_p.A620T	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1194	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			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)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CAACATGAGCGCCTCGGCCAT	0.642																																						ENST00000577647.1																			0				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						c.(1858-1860)Gcc>Acc		angiotensin I converting enzyme	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)						34	35	35					17																	61574235		2203	4300	6503	SO:0001583	missense	1636				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	g.chr17:61574235G>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3580G>A	17.37:g.61574235G>A	ENSP00000290866:p.Ala1194Thr					ACE_ENST00000490216.2_Missense_Mutation_p.A620T|ACE_ENST00000428043.1_Intron|ACE_ENST00000421982.2_Missense_Mutation_p.A399T|ACE_ENST00000290866.4_Missense_Mutation_p.A1194T|ACE_ENST00000413513.3_Missense_Mutation_p.A579T|ACE_ENST00000290863.6_Missense_Mutation_p.A620T	p.A620T			P12821	ACE_HUMAN			13	1903	+			1194			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1858G>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	g	11.80	1.747086	0.30955	.	.	ENSG00000159640	ENST00000290866;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T	0.45668	0.89;0.89;1.21;1.21	5.06	4.08	0.47627	.	0.052933	0.85682	N	0.000000	T	0.59321	0.2185	M	0.70595	2.14	0.58432	D	0.999996	P;D;D;D	0.76494	0.931;0.972;0.991;0.999	P;P;P;P	0.62089	0.511;0.692;0.507;0.898	T	0.59994	-0.7349	10	0.36615	T	0.2	-13.341	14.7347	0.69406	0.0:0.0:0.8539:0.1461	.	399;579;620;1194	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	T	1194;620;579;399	ENSP00000290866:A1194T;ENSP00000290863:A620T;ENSP00000392247:A579T;ENSP00000387760:A399T	ENSP00000290863:A620T	A	+	1	0	ACE	58927967	1.000000	0.71417	0.022000	0.16811	0.144000	0.21451	6.725000	0.74752	1.097000	0.41459	0.479000	0.44913	GCC		0.642	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			5	38	0	0	0	1	0	5	38					A	61574235	G	A	61574235	3	1	435	1	0	0	0	0	1	0	0	0	136	1087	38	1	3877	1	ACE	17	61574235	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16524	61574235	19620975	7551	28476											
KCNH6	81033	broad.mit.edu	37	chr17	61601658	61601658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacacaccaagcagcgccGtgtcccgcctagcgcaggcc	9	3	10	19	4	0	0	0	0	0	0	1	0	1	0	6	1	4	2	6	1	3	1	rs372365847		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61601658G>A	ENST00000583023.1	+	2	246	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	KCNH6_ENST00000580652.1_Missense_Mutation_p.V79M|KCNH6_ENST00000456941.2_Missense_Mutation_p.V79M|KCNH6_ENST00000314672.5_Missense_Mutation_p.V79M|KCNH6_ENST00000581784.1_Missense_Mutation_p.V79M	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	79					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AAGCAGCGCCGTGTCCCGCCT	0.627																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(235-237)Gtg>Atg		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)	G	MET/VAL,MET/VAL	0,4406		0,0,2203	85	75	79		235,235	2	1	17		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KCNH6	NM_030779.2,NM_173092.1	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	79/995,79/906	61601658	1,13005	2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61601658G>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.235G>A	17.37:g.61601658G>A	ENSP00000463533:p.Val79Met					KCNH6_ENST00000314672.5_Missense_Mutation_p.V79M|KCNH6_ENST00000581784.1_Missense_Mutation_p.V79M|KCNH6_ENST00000456941.2_Missense_Mutation_p.V79M|KCNH6_ENST00000580652.1_Missense_Mutation_p.V79M	p.V79M	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			2	246	+			79					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.235G>A	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	G	4.730	0.135717	0.09032	0.0	1.16E-4	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.99656	-6.31;-6.31	5.34	2.02	0.26589	PAS fold (1);	0.494387	0.16488	N	0.212236	D	0.98337	0.9448	M	0.72894	2.215	0.31372	N	0.68011	B;B;B	0.19331	0.02;0.035;0.025	B;B;B	0.18561	0.016;0.022;0.01	D	0.98839	1.0754	10	0.17369	T	0.5	.	6.7862	0.23675	0.5941:0.0:0.4059:0.0	.	79;79;79	Q9H252-2;Q9H252;Q9H252-3	.;KCNH6_HUMAN;.	M	79	ENSP00000318212:V79M;ENSP00000396900:V79M	ENSP00000318212:V79M	V	+	1	0	KCNH6	58955390	0.433000	0.25562	0.990000	0.47175	0.259000	0.26198	0.857000	0.27831	0.454000	0.26884	0.561000	0.74099	GTG		0.627	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		30	42	0	0	0	1	0	30	42					A	61601658	G	A	61601658	3	1	435	1	0	0	0	0	1	0	0	0	8036	1145	40	1	241	1	KCNH6	17	61601658	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27423	61601658	19593552	7552	28477											
KCNH6	81033	broad.mit.edu	37	chr17	61619769	61619769	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggagagcttctggagtaagCtggaggtcaccttcaacctg	9	9	13	10	1	3	1	2	0	1	1	3	4	3	3	2	4	3	3	2	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61619769C>T	ENST00000583023.1	+	9	2133	c.2122C>T	c.(2122-2124)Ctg>Ttg	p.L708L	KCNH6_ENST00000581784.1_Silent_p.L655L|KCNH6_ENST00000314672.5_Silent_p.L708L|KCNH6_ENST00000456941.2_Silent_p.L655L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	708					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CTGGAGTAAGCTGGAGGTCAC	0.642																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2122-2124)Ctg>Ttg		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						92	79	83					17																	61619769		2203	4300	6503	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61619769C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2122C>T	17.37:g.61619769C>T						KCNH6_ENST00000314672.5_Silent_p.L708L|KCNH6_ENST00000581784.1_Silent_p.L655L|KCNH6_ENST00000456941.2_Silent_p.L655L	p.L708L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			9	2133	+			708					Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.2122C>T	CCDS11638.1																																																																																				0.642	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		16	26	0	0	0	1	0	16	26					T	61619769	C	T	61619769	2	4	435	1	0	0	0	0	0	0	0	1	8036	796	28	3		3	KCNH6	17	61619769	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18111	61619769	19575441	7553	28478											
MAP3K3	4215	broad.mit.edu	37	chr17	61769176	61769176	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcggcagatcctggagggCatgtcctacctgcacagcaa	10	6	12	13	2	0	1	0	0	0	1	2	2	2	2	3	3	3	4	3	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61769176C>T	ENST00000361733.3	+	14	1748	c.1428C>T	c.(1426-1428)ggC>ggT	p.G476G	MAP3K3_ENST00000579585.1_Silent_p.G507G|MAP3K3_ENST00000361357.3_Silent_p.G507G|MAP3K3_ENST00000584573.1_Silent_p.G503G|MAP3K3_ENST00000577395.1_Silent_p.G472G	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	476	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						TCCTGGAGGGCATGTCCTACC	0.562																																						ENST00000361357.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1519-1521)ggC>ggT		mitogen-activated protein kinase kinase kinase 3							166	153	158					17																	61769176		2203	4300	6503	SO:0001819	synonymous_variant	4215				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	g.chr17:61769176C>T	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6855	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 3", "MAPK/ERK kinase kinase 3"	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1428C>T	17.37:g.61769176C>T						MAP3K3_ENST00000579585.1_Silent_p.G507G|MAP3K3_ENST00000361733.3_Silent_p.G476G|MAP3K3_ENST00000577395.1_Silent_p.G472G|MAP3K3_ENST00000584573.1_Silent_p.G503G	p.G507G	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN			15	1839	+			476			Protein kinase.		B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Silent	SNP	ENST00000361733.3	37	c.1521C>T	CCDS32702.1																																																																																				0.562	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		45	54	0	0	0	1	0	45	54					T	61769176	C	T	61769176	2	4	435	1	0	0	0	0	0	0	0	1	9251	697	25	3		3	MAP3K3	17	61769176	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	149407	61769176	19426034	7554	28479											
LIMD2	80774	broad.mit.edu	37	chr17	61775913	61775913	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggaaggttacagaggcctCaggccgtcttggtgccgggg	6	8	18	9	2	2	1	1	0	1	1	2	2	2	2	3	7	2	1	3	7	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61775913C>T	ENST00000259006.3	-	5	541	c.383G>A	c.(382-384)tGa>tAa	p.*128*	LIMD2_ENST00000578402.1_Silent_p.*128*|LIMD2_ENST00000578061.1_Silent_p.*128*|LIMD2_ENST00000578993.1_Silent_p.*88*|LIMD2_ENST00000583211.1_Silent_p.*79*|LIMD2_ENST00000582055.1_Silent_p.*79*	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	0							zinc ion binding (GO:0008270)			kidney(1)|lung(2)	3						ACAGAGGCCTCAGGCCGTCTT	0.652																																						ENST00000259006.3																			0				kidney(1)|lung(2)	3						c.(382-384)tGa>tAa		LIM domain containing 2							47	40	42					17																	61775913		2203	4300	6503	SO:0001819	synonymous_variant	80774						zinc ion binding	g.chr17:61775913C>T	AK092301	CCDS11641.1	17q23.3	2006-02-03				ENSG00000136490			28142	protein-coding gene	gene with protein product						12477932	Standard	NM_030576		Approved	MGC10986	uc002jbj.4	Q9BT23		ENST00000259006.3:c.383G>A	17.37:g.61775913C>T						LIMD2_ENST00000582055.1_Silent_p.*79*|LIMD2_ENST00000578402.1_Silent_p.*128*|LIMD2_ENST00000583211.1_Silent_p.*79*|LIMD2_ENST00000578993.1_Silent_p.*88*|LIMD2_ENST00000578061.1_Silent_p.*128*	p.*128*	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN			5	541	-			0					D3DU16|Q96S91	Silent	SNP	ENST00000259006.3	37	c.383G>A	CCDS11641.1																																																																																				0.652	LIMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443877.1	NM_030576		4	10	0	0	0	1	0	4	10					T	61775913	C	T	61775913	2	4	435	1	0	0	0	0	0	0	0	1	8799	837	29	3		3	LIMD2	17	61775913	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6737	61775913	19419297	7555	28480											
DDX42	11325	broad.mit.edu	37	chr17	61892959	61892959	+	Frame_Shift_Del	DEL	A	A	-																															aatctcgattcaaaggagggAaaggaaaaaagctgaacatt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61892959delA	ENST00000578681.1	+	17	2540	c.1939delA	c.(1939-1941)aaafs	p.K647fs	DDX42_ENST00000583590.1_Frame_Shift_Del_p.K647fs|DDX42_ENST00000359353.5_Frame_Shift_Del_p.K528fs|DDX42_ENST00000457800.2_Frame_Shift_Del_p.K647fs|DDX42_ENST00000389924.2_Frame_Shift_Del_p.K647fs	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	647					protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CAAAGGAGGGAAAGGAAAAAA	0.483																																						ENST00000578681.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(1939-1941)aafs		DEAD (Asp-Glu-Ala-Asp) box helicase 42							121	117	118					17																	61892959		2203	4300	6503	SO:0001589	frameshift_variant	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61892959delA	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1939delA	17.37:g.61892959delA	ENSP00000464050:p.Lys647fs					DDX42_ENST00000583590.1_Frame_Shift_Del_p.K647fs|DDX42_ENST00000457800.2_Frame_Shift_Del_p.K647fs|DDX42_ENST00000389924.2_Frame_Shift_Del_p.K647fs|DDX42_ENST00000359353.5_Frame_Shift_Del_p.K528fs	p.K647fs	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN			17	2540	+			647					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Frame_Shift_Del	DEL	ENST00000578681.1	37	c.1939delA	CCDS32704.1																																																																																				0.483	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		7	56						7	56	---	---	---	---	-	61892959	A	-	61892959	7	5	435	1	0	1	0	1	0	0	0	0	4362	247	9	0	1997	0	DDX42	17	61892959	Frame_Shift_Del	DEL	A	TCGA-XK-AAIW-01A-11D-A41K-08	117046	61892959	19302251	7556	28481											
GH1	2688	broad.mit.edu	37	chr17	61995794	61995794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctggataagggaatggttGggaaggcactgccctcttga	9	9	15	8	0	1	1	0	1	1	0	1	4	1	4	2	5	1	2	2	5	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61995794G>A	ENST00000323322.5	-	2	125	c.83C>T	c.(82-84)cCa>cTa	p.P28L	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Missense_Mutation_p.P28L|GH1_ENST00000458650.2_Missense_Mutation_p.P28L|GH1_ENST00000342364.4_Missense_Mutation_p.P28L	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	28					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGGAATGGTTGGGAAGGCACT	0.592																																						ENST00000323322.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19	GRCh37	CM014004	GH1	M		c.(82-84)cCa>cTa		growth hormone 1							137	143	141					17																	61995794		2203	4300	6503	SO:0001583	missense	2688				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	g.chr17:61995794G>A	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"Endogenous ligands"	4261	protein-coding gene	gene with protein product	"pituitary growth hormone", "somatotropin"	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.83C>T	17.37:g.61995794G>A	ENSP00000312673:p.Pro28Leu					GH1_ENST00000458650.2_Missense_Mutation_p.P28L|GH1_ENST00000342364.4_Missense_Mutation_p.P28L|GH1_ENST00000351388.4_Missense_Mutation_p.P28L|CSHL1_ENST00000392824.4_Intron	p.P28L	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN			2	125	-			28					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	c.83C>T	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	g	11.37	1.618613	0.28801	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388;ENST00000342364	D;D;D;D	0.92595	-3.07;-2.73;-3.07;-3.07	2.86	2.86	0.33363	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.174545	0.50627	D	0.000101	D	0.96169	0.8751	M	0.93016	3.37	0.51012	D	0.9999	D;D;B;D;D	0.76494	0.998;0.999;0.447;0.991;0.991	D;D;B;P;P	0.79784	0.923;0.993;0.405;0.845;0.845	D	0.95860	0.8882	10	0.87932	D	0	.	9.3531	0.38151	0.0:0.0:1.0:0.0	.	28;28;28;28;28	C9JYZ1;B1A4G9;A6NEF6;P01241;B1A4G7	.;.;.;SOMA_HUMAN;.	L	28	ENSP00000312673:P28L;ENSP00000408486:P28L;ENSP00000343791:P28L;ENSP00000339278:P28L	ENSP00000312673:P28L	P	-	2	0	GH1	59349526	1.000000	0.71417	0.848000	0.33437	0.396000	0.30629	5.297000	0.65704	1.594000	0.50039	0.298000	0.19748	CCA		0.592	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		28	120	0	0	0	1	0	28	120					A	61995794	G	A	61995794	3	1	435	1	0	0	0	0	1	0	0	0	6367	1348	47	3	586	3	GH1	17	61995794	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	102835	61995794	19199416	7557	28482											
CD79B	974	broad.mit.edu	37	chr17	62007561	62007561	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgagggtggcgagagattcGttctgggactcttccatgcg	6	11	16	8	3	2	2	0	1	2	1	4	5	3	3	1	3	1	1	1	3	0	3	rs115494685		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62007561G>A	ENST00000006750.3	-	3	395	c.303C>T	c.(301-303)aaC>aaT	p.N101N	CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_Silent_p.N102N	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	101	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						CGAGAGATTCGTTCTGGGACT	0.567			"Mis, O"		DLBCL								G|||	1	0.000199681	0	0	5008	,	,		21832	0.001		0	False		,,,				2504	0					ENST00000006750.3				Dom	yes		17	17q23	974	"Mis, O"	"CD79b molecule, immunoglobulin-associated beta"			L			DLBCL		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						c.(301-303)aaC>aaT		CD79b molecule, immunoglobulin-associated beta		G	,,	1,4405	2.1+/-5.4	0,1,2202	158	132	141		303,306,	-1.5	0	17	dbSNP_132	141	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron	CD79B	NM_000626.2,NM_001039933.1,NM_021602.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	101/230,102/231,	62007561	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	g.chr17:62007561G>A	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1699	protein-coding gene	gene with protein product		147245	"CD79B antigen (immunoglobulin-associated beta)"	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.303C>T	17.37:g.62007561G>A						CD79B_ENST00000392795.3_Silent_p.N102N|CD79B_ENST00000349817.2_Intron	p.N101N	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN			3	395	-			101			Ig-like V-type.		Q53FS2|Q9BU06	Silent	SNP	ENST00000006750.3	37	c.303C>T	CCDS11655.1																																																																																				0.567	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1			17	21	0	0	0	1	0	17	21					A	62007561	G	A	62007561	2	1	435	1	0	0	0	0	0	0	0	1	3037	1136	40	1		1	CD79B	17	62007561	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11767	62007561	19187649	7558	28483											
SCN4A	6329	broad.mit.edu	37	chr17	62019306	62019306	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcggatcacacggaacaGcgtgggtgacacgaagtact	12	5	14	10	4	1	1	1	1	0	0	1	4	1	3	0	4	3	1	0	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62019306G>A	ENST00000435607.1	-	24	4412	c.4336C>T	c.(4336-4338)Ctg>Ttg	p.L1446L	SCN4A_ENST00000578147.1_Silent_p.L1446L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1446					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACACGGAACAGCGTGGGTGAC	0.662																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(4336-4338)Ctg>Ttg		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						32	32	32					17																	62019306		2196	4288	6484	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62019306G>A	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4336C>T	17.37:g.62019306G>A						SCN4A_ENST00000578147.1_Silent_p.L1446L	p.L1446L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			24	4412	-			1446					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.4336C>T	CCDS45761.1																																																																																				0.662	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		6	7	0	0	0	1	0	6	7					A	62019306	G	A	62019306	2	1	435	1	0	0	0	0	0	0	0	1	13920	962	34	3		3	SCN4A	17	62019306	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11745	62019306	19175904	7559	28484											
SCN4A	6329	broad.mit.edu	37	chr17	62026114	62026114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgtagaggcagggccagcGctgcacgcaggctgatgggg	8	4	18	11	3	0	2	0	1	0	1	0	2	0	2	1	5	2	6	1	5	1	1	rs199713025		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62026114G>A	ENST00000435607.1	-	16	3077	c.3001C>T	c.(3001-3003)Cgc>Tgc	p.R1001C	SCN4A_ENST00000578147.1_Missense_Mutation_p.R1001C	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1001					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGGGCCAGCGCTGCACGCAG	0.642																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(3001-3003)Cgc>Tgc		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)	G	CYS/ARG	7,4341		0,7,2167	30	33	32		3001	3.1	1	17		32	0,8544		0,0,4272	yes	missense	SCN4A	NM_000334.4	180	0,7,6439	AA,AG,GG		0.0,0.161,0.0543	probably-damaging	1001/1837	62026114	7,12885	2174	4272	6446	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62026114G>A	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3001C>T	17.37:g.62026114G>A	ENSP00000396320:p.Arg1001Cys					SCN4A_ENST00000578147.1_Missense_Mutation_p.R1001C	p.R1001C	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			16	3077	-			1001					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.3001C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561949	0.45590	0.00161	0.0	ENSG00000007314	ENST00000435607	D	0.86956	-2.19	4.16	3.09	0.35607	Sodium ion transport-associated (1);	0.112431	0.56097	D	0.000024	D	0.92133	0.7506	M	0.87617	2.895	0.58432	D	0.999993	D	0.89917	1.0	D	0.65874	0.939	D	0.90801	0.4694	10	0.38643	T	0.18	.	9.4304	0.38606	0.0:0.0:0.6236:0.3764	.	1001	P35499	SCN4A_HUMAN	C	1001	ENSP00000396320:R1001C	ENSP00000396320:R1001C	R	-	1	0	SCN4A	59379846	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	2.528000	0.45624	2.324000	0.78689	0.313000	0.20887	CGC		0.642	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		8	13	0	0	0	1	0	8	13					A	62026114	G	A	62026114	3	1	435	1	0	0	0	0	1	0	0	0	13920	1087	38	1	2545	1	SCN4A	17	62026114	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6808	62026114	19169096	7560	28485											
SCN4A	6329	broad.mit.edu	37	chr17	62049810	62049810	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcggaagatggccttgccCttgttgagtacgatgaaggt	10	10	14	7	2	0	3	0	2	0	1	0	5	0	4	2	3	3	2	2	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62049810C>A	ENST00000435607.1	-	2	370	c.294G>T	c.(292-294)aaG>aaT	p.K98N	CTC-264K15.6_ENST00000577329.1_lincRNA|SCN4A_ENST00000578147.1_Missense_Mutation_p.K98N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	98					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGCCTTGCCCTTGTTGAGTA	0.577																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(292-294)aaG>aaT		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						80	87	85					17																	62049810		2177	4273	6450	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62049810C>A	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.294G>T	17.37:g.62049810C>A	ENSP00000396320:p.Lys98Asn					SCN4A_ENST00000578147.1_Missense_Mutation_p.K98N	p.K98N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			2	370	-			98					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.294G>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124295	0.56613	.	.	ENSG00000007314	ENST00000435607	D	0.97404	-4.37	4.23	1.13	0.20643	.	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	M	0.86805	2.84	0.43021	D	0.994578	D	0.76494	0.999	D	0.63381	0.914	D	0.96533	0.9394	10	0.87932	D	0	.	7.5457	0.27766	0.0:0.5107:0.0:0.4893	.	98	P35499	SCN4A_HUMAN	N	98	ENSP00000396320:K98N	ENSP00000396320:K98N	K	-	3	2	SCN4A	59403542	0.730000	0.28100	0.998000	0.56505	0.963000	0.63663	-0.145000	0.10265	0.091000	0.17302	0.313000	0.20887	AAG		0.577	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		4	17	1	0	0.00116845	1	0.0011864	4	17					A	62049810	C	A	62049810	3	1	435	1	0	0	0	0	1	0	0	0	13920	680	24	5	5308	5	SCN4A	17	62049810	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	23696	62049810	19145400	7561	28486											
ICAM2	3384	broad.mit.edu	37	chr17	62081096	62081096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccaggcaggagaagttgCggtggccatcctctctgtca	8	8	13	12	1	2	1	1	0	1	1	4	2	3	1	3	4	2	2	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62081096C>T	ENST00000412356.1	-	5	911	c.557G>A	c.(556-558)cGc>cAc	p.R186H	ICAM2_ENST00000578379.1_Missense_Mutation_p.R85H|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.R186H|ICAM2_ENST00000418105.1_Missense_Mutation_p.R186H|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000578892.1_Missense_Mutation_p.R162H|ICAM2_ENST00000579687.1_Missense_Mutation_p.R186H|ICAM2_ENST00000449662.2_Missense_Mutation_p.R186H	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	186	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GGAGAAGTTGCGGTGGCCATC	0.572																																						ENST00000412356.1																			0				large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						c.(556-558)cGc>cAc		intercellular adhesion molecule 2							69	58	61					17																	62081096		2203	4300	6503	SO:0001583	missense	3384				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr17:62081096C>T		CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.557G>A	17.37:g.62081096C>T	ENSP00000415283:p.Arg186His					ICAM2_ENST00000581417.1_5'UTR|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000578892.1_Missense_Mutation_p.R162H|ICAM2_ENST00000578379.1_Missense_Mutation_p.R85H|ICAM2_ENST00000449662.2_Missense_Mutation_p.R186H|ICAM2_ENST00000418105.1_Missense_Mutation_p.R186H|ICAM2_ENST00000579788.1_Missense_Mutation_p.R186H|ICAM2_ENST00000579687.1_Missense_Mutation_p.R186H	p.R186H	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN			5	911	-			186			Ig-like C2-type 2.		Q14600	Missense_Mutation	SNP	ENST00000412356.1	37	c.557G>A	CCDS11657.1	.	.	.	.	.	.	.	.	.	.	C	9.404	1.078714	0.20227	.	.	ENSG00000108622	ENST00000412356;ENST00000418105;ENST00000449662	T;T;T	0.03358	3.96;3.96;3.96	5.17	-5.35	0.02697	Immunoglobulin-like fold (1);	0.706306	0.13725	N	0.367095	T	0.01092	0.0036	N	0.01874	-0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43925	-0.9361	10	0.22706	T	0.39	-8.8464	3.4453	0.07478	0.1564:0.4757:0.1283:0.2396	.	186	P13598	ICAM2_HUMAN	H	186	ENSP00000415283:R186H;ENSP00000388666:R186H;ENSP00000392634:R186H	ENSP00000415283:R186H	R	-	2	0	ICAM2	59434828	0.015000	0.18098	0.012000	0.15200	0.110000	0.19582	-0.211000	0.09332	-0.652000	0.05408	-1.456000	0.01031	CGC		0.572	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1			22	20	0	0	0	1	0	22	20					T	62081096	C	T	62081096	3	4	435	1	0	0	0	0	1	0	0	0	7480	768	27	1	278	1	ICAM2	17	62081096	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31286	62081096	19114114	7562	28487											
ERN1	2081	broad.mit.edu	37	chr17	62125289	62125289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatgcttcgctgaggggcGtttctgaggatccatcgcaa	8	10	12	11	3	1	2	0	2	1	0	4	3	2	3	1	3	1	4	1	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62125289G>A	ENST00000433197.3	-	19	2553	c.2458C>T	c.(2458-2460)Cgc>Tgc	p.R820C		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GCTGAGGGGCGTTTCTGAGGA	0.468																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(2458-2460)Cgc>Tgc		endoplasmic reticulum to nucleus signaling 1							88	87	87					17																	62125289		1953	4153	6106	SO:0001583	missense	2081				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	g.chr17:62125289G>A	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2458C>T	17.37:g.62125289G>A	ENSP00000401445:p.Arg820Cys						p.R820C	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			19	2553	-			820			Protein kinase.			Missense_Mutation	SNP	ENST00000433197.3	37	c.2458C>T	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973384	0.74246	.	.	ENSG00000178607	ENST00000433197	D	0.83250	-1.7	5.32	4.29	0.51040	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94188	0.8135	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95864	0.8885	10	0.87932	D	0	-26.1598	15.9033	0.79400	0.0:0.0:0.8646:0.1353	.	820	O75460	ERN1_HUMAN	C	820	ENSP00000401445:R820C	ENSP00000401445:R820C	R	-	1	0	ERN1	59479021	1.000000	0.71417	0.991000	0.47740	0.866000	0.49608	3.903000	0.56318	2.648000	0.89879	0.561000	0.74099	CGC		0.468	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		10	25	0	0	0	1	0	10	25					A	62125289	G	A	62125289	3	1	435	1	0	0	0	0	1	0	0	0	5237	1145	40	1	491	1	ERN1	17	62125289	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44193	62125289	19069921	7563	28488											
ERN1	2081	broad.mit.edu	37	chr17	62130708	62130708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgggctccaggccgagatgCgcaaagtccttctgctccac	8	8	11	14	2	1	1	0	0	1	1	4	2	4	1	4	2	2	3	4	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62130708C>T	ENST00000433197.3	-	16	2072	c.1977G>A	c.(1975-1977)gcG>gcA	p.A659A		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGCCGAGATGCGCAAAGTCCT	0.582																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(1975-1977)gcG>gcA		endoplasmic reticulum to nucleus signaling 1							64	68	67					17																	62130708		2090	4228	6318	SO:0001819	synonymous_variant	2081				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	g.chr17:62130708C>T	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1977G>A	17.37:g.62130708C>T							p.A659A	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			16	2072	-			659			Protein kinase.			Silent	SNP	ENST00000433197.3	37	c.1977G>A	CCDS45762.1																																																																																				0.582	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		10	26	0	0	0	1	0	10	26					T	62130708	C	T	62130708	2	4	435	1	0	0	0	0	0	0	0	1	5237	755	27	1		1	ERN1	17	62130708	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5419	62130708	19064502	7564	28489											
ERN1	2081	broad.mit.edu	37	chr17	62141351	62141351	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacctgctcttacctatcAgaagccagtaattcctcaag	12	10	7	12	0	3	2	2	0	1	2	4	3	4	2	4	0	3	2	4	0	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62141351A>G	ENST00000433197.3	-	10	1177	c.1082T>C	c.(1081-1083)cTg>cCg	p.L361P		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CTTACCTATCAGAAGCCAGTA	0.567											OREG0024657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(1081-1083)cTg>cCg		endoplasmic reticulum to nucleus signaling 1							81	87	85					17																	62141351		2099	4217	6316	SO:0001583	missense	2081				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	g.chr17:62141351A>G	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1082T>C	17.37:g.62141351A>G	ENSP00000401445:p.Leu361Pro		OREG0024657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1059		p.L361P	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			10	1177	-			361						Missense_Mutation	SNP	ENST00000433197.3	37	c.1082T>C	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574007	0.86542	.	.	ENSG00000178607	ENST00000433197	T	0.66995	-0.24	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	D	0.82467	0.5043	M	0.80422	2.495	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.84998	0.0898	10	0.72032	D	0.01	-18.6356	15.9425	0.79768	1.0:0.0:0.0:0.0	.	361	O75460	ERN1_HUMAN	P	361	ENSP00000401445:L361P	ENSP00000401445:L361P	L	-	2	0	ERN1	59495083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.638000	0.91019	2.231000	0.72958	0.454000	0.30748	CTG		0.567	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		11	15	0	0	0	1	0	11	15					G	62141351	A	G	62141351	3	3	435	1	0	0	0	0	1	0	0	0	5237	188	7	4	1903	4	ERN1	17	62141351	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	10643	62141351	19053859	7565	28490											
POLG2	11232	broad.mit.edu	37	chr17	62493082	62493082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgacggctacacgagagCgcatctctctccgaagttaa	10	8	9	14	4	2	2	0	1	2	1	4	4	2	2	2	1	2	3	2	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62493082C>T	ENST00000539111.2	-	1	72	c.5G>A	c.(4-6)cGc>cAc	p.R2H		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	2					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TACACGAGAGCGCATCTCTCT	0.587																																					Colon(3;18 21 435 17652 48887)	ENST00000539111.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(4-6)cGc>cAc		polymerase (DNA directed), gamma 2, accessory subunit							47	45	46					17																	62493082		2203	4300	6503	SO:0001583	missense	11232				DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	g.chr17:62493082C>T	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"DNA polymerases"	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.5G>A	17.37:g.62493082C>T	ENSP00000442563:p.Arg2His						p.R2H	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		1	72	-	Breast(5;2.15e-14)		2					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	ENST00000539111.2	37	c.5G>A	CCDS32706.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860425	0.71834	.	.	ENSG00000256525	ENST00000539111	D	0.89050	-2.46	4.15	1.92	0.25849	.	0.425707	0.20695	N	0.087400	T	0.81498	0.4835	L	0.43152	1.355	0.25846	N	0.983999	B;B	0.15473	0.013;0.002	B;B	0.06405	0.002;0.002	T	0.73161	-0.4070	10	0.87932	D	0	-8.2095	4.7006	0.12825	0.0:0.5385:0.2524:0.2091	.	2;2	E5KS15;Q9UHN1	.;DPOG2_HUMAN	H	2	ENSP00000442563:R2H	ENSP00000442563:R2H	R	-	2	0	POLG2	59923544	0.956000	0.32656	0.902000	0.35471	0.140000	0.21249	1.498000	0.35660	1.081000	0.41110	0.561000	0.74099	CGC		0.587	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		7	20	0	0	0	1	0	7	20					T	62493082	C	T	62493082	3	4	435	1	0	0	0	0	1	0	0	0	12201	768	27	1	1484	1	POLG2	17	62493082	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	351731	62493082	18702128	7566	28491											
DDX5	1655	broad.mit.edu	37	chr17	62496410	62496410	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagagtatctgtcccgacgGtcatccttcatgcctcctct	6	12	8	15	2	4	1	2	0	2	1	7	2	7	1	4	1	1	2	4	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62496410G>A	ENST00000225792.5	-	13	1877	c.1476C>T	c.(1474-1476)gaC>gaT	p.D492D	MIR5047_ENST00000579212.1_RNA|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000450599.2_Silent_p.D413D|DDX5_ENST00000578804.1_Silent_p.D492D	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	492	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TGTCCCGACGGTCATCCTTCA	0.423			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.(1474-1476)gaC>gaT		DEAD (Asp-Glu-Ala-Asp) box helicase 5							82	83	82					17																	62496410		2203	4300	6503	SO:0001819	synonymous_variant	1655				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	g.chr17:62496410G>A	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1476C>T	17.37:g.62496410G>A						DDX5_ENST00000578804.1_Silent_p.D492D|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000450599.2_Silent_p.D413D	p.D492D	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		13	1877	-	Breast(5;2.15e-14)		492					B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Silent	SNP	ENST00000225792.5	37	c.1476C>T	CCDS11659.1																																																																																				0.423	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		34	52	0	0	0	1	0	34	52					A	62496410	G	A	62496410	2	1	435	1	0	0	0	0	0	0	0	1	4367	1252	44	3		3	DDX5	17	62496410	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3328	62496410	18698800	7567	28492											
SMURF2	64750	broad.mit.edu	37	chr17	62582227	62582227	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggtaaatcgttatcaaaTaaacgactgcagtccacaac	15	10	6	10	2	2	0	1	0	1	0	4	1	3	0	1	1	3	3	1	1	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62582227T>C	ENST00000262435.9	-	6	649	c.462A>G	c.(460-462)ttA>ttG	p.L154L	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	154					BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			CGTTATCAAATAAACGACTGC	0.338																																						ENST00000262435.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22						c.(460-462)ttA>ttG		SMAD specific E3 ubiquitin protein ligase 2							110	119	116					17																	62582227		2203	4300	6503	SO:0001819	synonymous_variant	64750				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	g.chr17:62582227T>C	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.462A>G	17.37:g.62582227T>C						SMURF2_ENST00000578200.1_Intron	p.L154L	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		6	649	-	Breast(5;1.32e-14)		154					Q52LL1|Q9H260	Silent	SNP	ENST00000262435.9	37	c.462A>G	CCDS32707.1																																																																																				0.338	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		37	69	0	0	0	1	0	37	69					C	62582227	T	C	62582227	2	2	435	1	0	0	0	0	0	0	0	1	14820	1403	49	4		4	SMURF2	17	62582227	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	85817	62582227	18612983	7568	28493											
GNA13	10672	broad.mit.edu	37	chr17	63010442	63010442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgtcacggaaaacaaggCggatgttctccgtgttgata	11	10	11	9	4	3	1	2	1	1	0	4	3	3	3	1	3	1	2	1	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:63010442C>T	ENST00000439174.2	-	4	1312	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	GNA13_ENST00000541118.1_Missense_Mutation_p.R261H	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	356					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GAAAACAAGGCGGATGTTCTC	0.443																																						ENST00000439174.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						c.(1066-1068)cGc>cAc		guanine nucleotide binding protein (G protein), alpha 13							136	104	115					17																	63010442		2203	4300	6503	SO:0001583	missense	10672				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	g.chr17:63010442C>T	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.1067G>A	17.37:g.63010442C>T	ENSP00000400717:p.Arg356His					GNA13_ENST00000541118.1_Missense_Mutation_p.R261H	p.R356H	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN			4	1312	-			356					B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	c.1067G>A	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062138	0.76187	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.89681	-2.55;-2.55	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.95778	0.8626	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.95597	0.8659	10	0.62326	D	0.03	.	19.949	0.97192	0.0:1.0:0.0:0.0	.	356	Q14344	GNA13_HUMAN	H	356;261;331	ENSP00000400717:R356H;ENSP00000439647:R261H	ENSP00000239138:R331H	R	-	2	0	GNA13	60440904	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	CGC		0.443	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		33	30	0	0	0	1	0	33	30					T	63010442	C	T	63010442	3	4	435	1	0	0	0	0	1	0	0	0	6501	768	27	1	70	1	GNA13	17	63010442	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	428215	63010442	18184768	7569	28494											
AXIN2	8313	broad.mit.edu	37	chr17	63534419	63534419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcagctgcaaaggtggCgggttccacgggggtcatct	7	8	15	11	2	3	0	2	0	1	0	4	0	4	0	1	5	3	4	1	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:63534419C>T	ENST00000375702.5	-	4	1210	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000307078.5_Missense_Mutation_p.A368T			Q9Y2T1	AXIN2_HUMAN	axin 2	368	Interaction with GSK3B. {ECO:0000250}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.A368P(1)		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						GCAAAGGTGGCGGGTTCCACG	0.627									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			1	Substitution - Missense(1)	p.A368P(1)	lung(1)	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						c.(1102-1104)Gcc>Acc		axin 2							64	59	61					17																	63534419		2203	4300	6503	SO:0001583	missense	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	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	g.chr17:63534419C>T	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1102G>A	17.37:g.63534419C>T	ENSP00000364854:p.Ala368Thr					AXIN2_ENST00000375702.5_Missense_Mutation_p.A368T|CTD-2535L24.2_ENST00000577662.1_3'UTR	p.A368T	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			5	1415	-			368			Interaction with GSK3B (By similarity).		Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.1102G>A		.	.	.	.	.	.	.	.	.	.	C	16.33	3.092205	0.55968	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	T;T	0.81247	-1.47;-1.47	5.3	4.3	0.51218	.	0.106552	0.64402	N	0.000007	T	0.81451	0.4825	M	0.71581	2.175	0.58432	D	0.999992	D;P;D	0.64830	0.962;0.914;0.994	B;B;P	0.46585	0.266;0.326;0.521	T	0.82242	-0.0554	10	0.49607	T	0.09	-8.3427	13.0986	0.59208	0.0:0.9192:0.0:0.0808	.	368;368;368	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	T	368	ENSP00000302625:A368T;ENSP00000364854:A368T	ENSP00000302625:A368T	A	-	1	0	AXIN2	60964881	0.902000	0.30710	0.494000	0.27515	0.977000	0.68977	1.878000	0.39608	1.168000	0.42723	0.555000	0.69702	GCC		0.627	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		17	17	0	0	0	1	0	17	17					T	63534419	C	T	63534419	3	4	435	1	0	0	0	0	1	0	0	0	1237	768	27	1	1457	1	AXIN2	17	63534419	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	523977	63534419	17660791	7570	28495											
AXIN2	8313	broad.mit.edu	37	chr17	63554079	63554079	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggggagatagccacacacGacctttaggctcccgagtcc	9	7	12	13	2	0	1	0	0	0	1	2	4	2	1	4	3	1	1	4	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:63554079G>A	ENST00000375702.5	-	1	768	c.660C>T	c.(658-660)gtC>gtT	p.V220V	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000307078.5_Silent_p.V220V			Q9Y2T1	AXIN2_HUMAN	axin 2	220					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			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						AGCCACACACGACCTTTAGGC	0.483									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				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						c.(658-660)gtC>gtT		axin 2							145	121	129					17																	63554079		2203	4300	6503	SO:0001819	synonymous_variant	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	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	g.chr17:63554079G>A	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.660C>T	17.37:g.63554079G>A						AXIN2_ENST00000375702.5_Silent_p.V220V|CTD-2535L24.2_ENST00000577662.1_3'UTR	p.V220V	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			2	973	-			220					Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	ENST00000375702.5	37	c.660C>T																																																																																					0.483	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		34	45	0	0	0	1	0	34	45					A	63554079	G	A	63554079	2	1	435	1	0	0	0	0	0	0	0	1	1237	1045	37	2		2	AXIN2	17	63554079	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19660	63554079	17641131	7571	28496											
AXIN2	8313	broad.mit.edu	37	chr17	63554635	63554635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacccctggctgacacGgtggggtctccccttcttcc	3	10	10	18	1	2	1	0	1	2	0	4	1	3	1	6	4	1	1	6	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:63554635G>A	ENST00000375702.5	-	1	212	c.104C>T	c.(103-105)cCg>cTg	p.P35L	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000307078.5_Missense_Mutation_p.P35L			Q9Y2T1	AXIN2_HUMAN	axin 2	35					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			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						TGGCTGACACGGTGGGGTCTC	0.667									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				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						c.(103-105)cCg>cTg		axin 2							41	45	43					17																	63554635		2203	4300	6503	SO:0001583	missense	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	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	g.chr17:63554635G>A	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.104C>T	17.37:g.63554635G>A	ENSP00000364854:p.Pro35Leu					AXIN2_ENST00000375702.5_Missense_Mutation_p.P35L|CTD-2535L24.2_ENST00000577662.1_3'UTR	p.P35L	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			2	417	-			35					Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.104C>T		.	.	.	.	.	.	.	.	.	.	G	9.145	1.014888	0.19355	.	.	ENSG00000168646	ENST00000307078;ENST00000544103;ENST00000375702	T;T;T	0.77358	-0.12;-1.09;-0.11	4.74	4.74	0.60224	.	0.305992	0.21550	U	0.072742	T	0.71178	0.3309	L	0.52573	1.65	0.49130	D	0.999752	P;P;P	0.50819	0.716;0.762;0.939	B;B;B	0.38616	0.058;0.079;0.277	T	0.72074	-0.4400	10	0.28530	T	0.3	-20.457	16.5149	0.84297	0.0:0.0:1.0:0.0	.	35;35;35	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	L	35	ENSP00000302625:P35L;ENSP00000441151:P35L;ENSP00000364854:P35L	ENSP00000302625:P35L	P	-	2	0	AXIN2	60985097	1.000000	0.71417	0.988000	0.46212	0.455000	0.32408	7.698000	0.84413	2.163000	0.67991	0.561000	0.74099	CCG		0.667	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		17	24	0	0	0	1	0	17	24					A	63554635	G	A	63554635	3	1	435	1	0	0	0	0	1	0	0	0	1237	1116	39	2	2467	2	AXIN2	17	63554635	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	556	63554635	17640575	7572	28497											
CCDC46	201134	broad.mit.edu	37	chr17	63898327	63898327	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgctccatattggcagcGcgaagctgtttttccaggtt	6	14	11	10	3	0	0	0	0	0	0	3	1	2	0	2	2	3	5	2	2	2	5	rs374621153		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:63898327G>A	ENST00000392769.2	-	20	2324	c.2106C>T	c.(2104-2106)cgC>cgT	p.R702R	CEP112_ENST00000541355.1_Silent_p.R337R|CEP112_ENST00000535342.2_Silent_p.R702R|CEP112_ENST00000537949.1_Silent_p.R660R	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	702					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TATTGGCAGCGCGAAGCTGTT	0.408																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(2104-2106)cgC>cgT		centrosomal protein 112kDa		G	,	0,4406		0,0,2203	155	131	139		2106,2106	5.6	1	17		139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CEP112	NM_001199165.1,NM_145036.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	702/956,702/956	63898327	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	201134					centrosome		g.chr17:63898327G>A	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2106C>T	17.37:g.63898327G>A						CEP112_ENST00000541355.1_Silent_p.R337R|CEP112_ENST00000537949.1_Silent_p.R660R|CEP112_ENST00000535342.2_Silent_p.R702R	p.R702R	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			20	2324	-			702					Q6PIB5|Q8NCR4|Q8NFR4	Silent	SNP	ENST00000392769.2	37	c.2106C>T	CCDS32710.1																																																																																				0.408	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		33	44	0	0	0	1	0	33	44					A	63898327	G	A	63898327	2	1	435	1	0	0	0	0	0	0	0	1	2817	1074	38	1		1	CCDC46	17	63898327	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	343692	63898327	17296883	7573	28498											
PRKCA	5578	broad.mit.edu	37	chr17	64641529	64641529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaacgttcacaagcaatgCgtcatcaatgtccccagcct	12	9	7	13	2	3	1	3	1	0	0	4	1	4	1	3	0	4	2	3	0	4	1	rs149096693		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:64641529C>T	ENST00000413366.3	+	5	455	c.429C>T	c.(427-429)tgC>tgT	p.C143C		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	143					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	ACAAGCAATGCGTCATCAATG	0.517																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(427-429)tgC>tgT		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)	C		1,4405	2.1+/-5.4	0,1,2202	174	137	150		429	-3.4	0.8	17	dbSNP_134	150	0,8600		0,0,4300	no	coding-synonymous	PRKCA	NM_002737.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		143/673	64641529	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5578				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	g.chr17:64641529C>T		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.429C>T	17.37:g.64641529C>T							p.C143C	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		5	455	+			143					B5BU22|Q15137|Q32M72|Q96RE4	Silent	SNP	ENST00000413366.3	37	c.429C>T	CCDS11664.1																																																																																				0.517	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			18	28	0	0	0	1	0	18	28					T	64641529	C	T	64641529	2	4	435	1	0	0	0	0	0	0	0	1	12507	776	27	1		1	PRKCA	17	64641529	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	743202	64641529	16553681	7574	28499											
PRKCA	5578	broad.mit.edu	37	chr17	64728820	64728820	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttagaaagccaaacttggCcctgctggcaacaaagtcat	14	9	8	10	0	1	1	1	0	0	1	1	1	1	1	2	2	4	2	2	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:64728820C>T	ENST00000413366.3	+	9	959	c.933C>T	c.(931-933)ggC>ggT	p.G311G		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	311					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	CCAAACTTGGCCCTGCTGGCA	0.448																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(931-933)ggC>ggT		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						195	201	199					17																	64728820		2203	4300	6503	SO:0001819	synonymous_variant	5578				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	g.chr17:64728820C>T		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.933C>T	17.37:g.64728820C>T							p.G311G	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		9	959	+			311					B5BU22|Q15137|Q32M72|Q96RE4	Silent	SNP	ENST00000413366.3	37	c.933C>T	CCDS11664.1																																																																																				0.448	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			56	232	0	0	0	1	0	56	232					T	64728820	C	T	64728820	2	4	435	1	0	0	0	0	0	0	0	1	12507	726	26	3		3	PRKCA	17	64728820	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	87291	64728820	16466390	7575	28500											
CACNG4	27092	broad.mit.edu	37	chr17	65021029	65021029	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcaccatcctgctcctgCtgggtggcctgtgcatcggt	4	11	12	14	1	1	0	1	0	0	0	4	0	3	0	4	3	4	4	4	3	0	0	rs139336374		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:65021029C>T	ENST00000262138.3	+	3	360	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	120					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CCTGCTCCTGCTGGGTGGCCT	0.652													C|||	1	0.000199681	0	0	5008	,	,		19024	0.001		0	False		,,,				2504	0					ENST00000262138.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(358-360)Ctg>Ttg		calcium channel, voltage-dependent, gamma subunit 4		C		2,4404	4.2+/-10.8	0,2,2201	107	93	98		358	3.8	0.9	17	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous	CACNG4	NM_014405.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		120/328	65021029	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65021029C>T	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"Calcium channel subunits"	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.358C>T	17.37:g.65021029C>T							p.L120L	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		3	360	+	all_cancers(12;9.86e-11)		120					B2RCK0	Silent	SNP	ENST00000262138.3	37	c.358C>T	CCDS11667.1																																																																																				0.652	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		29	31	0	0	0	1	0	29	31					T	65021029	C	T	65021029	2	4	435	1	0	0	0	0	0	0	0	1	2559	796	28	3		3	CACNG4	17	65021029	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	292209	65021029	16174181	7576	28501											
CACNG1	786	broad.mit.edu	37	chr17	65052280	65052280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgcctgcgcctgtgccGccttcatcctcctctttctc	1	15	6	19	2	3	0	1	0	2	0	6	0	5	0	7	0	3	0	7	0	0	3	rs372713806		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:65052280G>A	ENST00000226021.3	+	4	633	c.562G>A	c.(562-564)Gcc>Acc	p.A188T		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	188					muscle contraction (GO:0006936)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transport (GO:0006810)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CGCCTGTGCCGCCTTCATCCT	0.607																																						ENST00000226021.3																			0				breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8						c.(562-564)Gcc>Acc		calcium channel, voltage-dependent, gamma subunit 1	Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)						207	150	170					17																	65052280		2203	4300	6503	SO:0001583	missense	786				muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr17:65052280G>A	L07738	CCDS11668.1	17q24	2008-05-02				ENSG00000108878		"Calcium channel subunits"	1405	protein-coding gene	gene with protein product		114209		CACNLG		8395940	Standard	NM_000727		Approved		uc002jfu.3	Q06432		ENST00000226021.3:c.562G>A	17.37:g.65052280G>A	ENSP00000226021:p.Ala188Thr						p.A188T	NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN			4	633	+	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)		188					B2R9N3|Q14D59	Missense_Mutation	SNP	ENST00000226021.3	37	c.562G>A	CCDS11668.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.438058	0.62955	.	.	ENSG00000108878	ENST00000226021	T	0.72615	-0.67	5.0	3.96	0.45880	.	0.073911	0.56097	D	0.000031	T	0.74824	0.3767	M	0.81239	2.535	0.48135	D	0.999597	D	0.53462	0.96	P	0.46110	0.504	T	0.81174	-0.1053	10	0.87932	D	0	.	14.0746	0.64882	0.0:0.0:0.7658:0.2342	.	188	Q06432	CCG1_HUMAN	T	188	ENSP00000226021:A188T	ENSP00000226021:A188T	A	+	1	0	CACNG1	62482742	1.000000	0.71417	0.253000	0.24343	0.160000	0.22226	3.442000	0.52900	2.482000	0.83794	0.462000	0.41574	GCC		0.607	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447039.1			14	25	0	0	0	1	0	14	25					A	65052280	G	A	65052280	3	1	435	1	0	0	0	0	1	0	0	0	2556	1087	38	1	576	1	CACNG1	17	65052280	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31251	65052280	16142930	7577	28502											
HELZ	9931	broad.mit.edu	37	chr17	65124824	65124824	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatgctgcagtcttagagcCcgggggataaattcaggtgc	10	9	14	8	1	2	1	1	0	1	1	2	3	2	2	1	3	4	2	1	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:65124824C>T	ENST00000358691.5	-	24	3496	c.3330G>A	c.(3328-3330)cgG>cgA	p.R1110R	HELZ_ENST00000580168.1_Silent_p.R1111R	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1110						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)					GTCTTAGAGCCCGGGGGATAA	0.428																																						ENST00000358691.5																			0				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						c.(3328-3330)cgG>cgA		helicase with zinc finger							174	166	168					17																	65124824		1848	4093	5941	SO:0001819	synonymous_variant	9931							g.chr17:65124824C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3330G>A	17.37:g.65124824C>T						HELZ_ENST00000580168.1_Silent_p.R1111R	p.R1110R	NM_014877.3	NP_055692.2					24	3496	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Silent	SNP	ENST00000358691.5	37	c.3330G>A	CCDS42374.1																																																																																				0.428	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		34	170	0	0	0	1	0	34	170					T	65124824	C	T	65124824	2	4	435	1	0	0	0	0	0	0	0	1	7049	610	22	3		3	HELZ	17	65124824	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	72544	65124824	16070386	7578	28503											
HELZ	9931	broad.mit.edu	37	chr17	65162627	65162627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggtatggtgggagtcataCtgatgtctggaaacaaaacc	13	10	12	6	0	2	1	1	1	1	0	2	3	2	3	1	4	3	1	1	4	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:65162627C>T	ENST00000358691.5	-	15	2028	c.1862G>A	c.(1861-1863)aGt>aAt	p.S621N	HELZ_ENST00000580168.1_Missense_Mutation_p.S621N	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	621						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)					GGGAGTCATACTGATGTCTGG	0.368																																						ENST00000358691.5																			0				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						c.(1861-1863)aGt>aAt		helicase with zinc finger							150	140	143					17																	65162627		1874	4120	5994	SO:0001583	missense	9931							g.chr17:65162627C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1862G>A	17.37:g.65162627C>T	ENSP00000351524:p.Ser621Asn					HELZ_ENST00000580168.1_Missense_Mutation_p.S621N	p.S621N	NM_014877.3	NP_055692.2					15	2028	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.1862G>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.188931	0.38707	.	.	ENSG00000198265	ENST00000358691	D	0.83591	-1.74	5.62	0.816	0.18768	.	0.210418	0.64402	D	0.000020	T	0.66096	0.2755	N	0.19112	0.55	0.37495	D	0.916533	P;P	0.42941	0.794;0.69	B;B	0.33042	0.085;0.157	T	0.67593	-0.5631	10	0.29301	T	0.29	-5.4502	14.0755	0.64887	0.0:0.763:0.1562:0.0808	.	621;621	B7ZLW2;P42694	.;HELZ_HUMAN	N	621	ENSP00000351524:S621N	ENSP00000351524:S621N	S	-	2	0	HELZ	62593089	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.604000	0.46274	0.717000	0.32145	0.491000	0.48974	AGT		0.368	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		35	51	0	0	0	1	0	35	51					T	65162627	C	T	65162627	3	4	435	1	0	0	0	0	1	0	0	0	7049	565	20	3	4042	3	HELZ	17	65162627	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	37803	65162627	16032583	7579	28504											
PSMD12	5718	broad.mit.edu	37	chr17	65343566	65343566	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccaaaataaattccacTcgctctttcttttccattga	10	16	3	12	1	2	1	0	1	2	0	6	1	5	1	3	0	1	2	3	0	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:65343566T>C	ENST00000356126.3	-	6	653	c.546A>G	c.(544-546)cgA>cgG	p.R182R	PSMD12_ENST00000581618.1_5'Flank|PSMD12_ENST00000357146.4_Silent_p.R162R	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	182					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TAAATTCCACTCGCTCTTTCT	0.363																																						ENST00000356126.3																			0				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13						c.(544-546)cgA>cgG		proteasome (prosome, macropain) 26S subunit, non-ATPase, 12							98	94	95					17																	65343566		2203	4300	6503	SO:0001819	synonymous_variant	5718				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	g.chr17:65343566T>C	AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"Proteasome (prosome, macropain) subunits"	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.546A>G	17.37:g.65343566T>C						PSMD12_ENST00000357146.4_Silent_p.R162R	p.R182R	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN			6	653	-	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)		182					A6NP15|Q53HA2|Q6P053	Silent	SNP	ENST00000356126.3	37	c.546A>G	CCDS11669.1																																																																																				0.363	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871		15	43	0	0	0	1	0	15	43					C	65343566	T	C	65343566	2	2	435	1	0	0	0	0	0	0	0	1	12695	1538	54	4		4	PSMD12	17	65343566	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	180939	65343566	15851644	7580	28505											
BPTF	2186	broad.mit.edu	37	chr17	65942213	65942213	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctcagcaaagtggtgtGccccagcaaatcaaactcca	13	6	9	13	0	2	0	2	0	0	0	3	0	3	0	3	2	4	3	3	2	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:65942213G>A	ENST00000321892.4	+	23	7828	c.7767G>A	c.(7765-7767)gtG>gtA	p.V2589V	BPTF_ENST00000306378.6_Silent_p.V2463V|BPTF_ENST00000335221.5_Intron|BPTF_ENST00000424123.3_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2589					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			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)			AAAGTGGTGTGCCCCAGCAAA	0.507																																						ENST00000321892.4																			0				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						c.(7765-7767)gtG>gtA		bromodomain PHD finger transcription factor							111	97	102					17																	65942213		2203	4300	6503	SO:0001819	synonymous_variant	2186				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	g.chr17:65942213G>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7767G>A	17.37:g.65942213G>A						BPTF_ENST00000335221.5_Intron|BPTF_ENST00000424123.3_Intron|BPTF_ENST00000306378.6_Silent_p.V2463V	p.V2589V			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		23	7828	+	all_cancers(12;6e-11)		2589					Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.7767G>A																																																																																					0.507	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		14	16	0	0	0	1	0	14	16					A	65942213	G	A	65942213	2	1	435	1	0	0	0	0	0	0	0	1	1495	1306	46	3		3	BPTF	17	65942213	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	598647	65942213	15252997	7581	28506											
SLC16A6	9120	broad.mit.edu	37	chr17	66267677	66267677	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactattttcggtgacgcTggtcctctgataaagatggg	9	13	12	7	2	1	4	0	3	1	1	3	4	2	4	1	3	0	1	1	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:66267677T>G	ENST00000327268.4	-	6	788	c.624A>C	c.(622-624)ccA>ccC	p.P208P	SLC16A6_ENST00000580666.1_Silent_p.P208P|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	208					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			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)	TCGGTGACGCTGGTCCTCTGA	0.468																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(622-624)ccA>ccC		solute carrier family 16, member 6	Pyruvic acid(DB00119)						133	127	129					17																	66267677		2203	4300	6503	SO:0001819	synonymous_variant	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267677T>G	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"Solute carriers"	10927	protein-coding gene	gene with protein product		603880	"solute carrier family 16 (monocarboxylic acid transporters), member 6", "solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.624A>C	17.37:g.66267677T>G						SLC16A6_ENST00000580666.1_Silent_p.P208P|ARSG_ENST00000448504.2_Intron	p.P208P	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	788	-	all_cancers(12;1.24e-09)		208					Q6P1X3	Silent	SNP	ENST00000327268.4	37	c.624A>C	CCDS11675.1																																																																																				0.468	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		30	62	0	0	0	1	0	30	62					G	66267677	T	G	66267677	2	3	435	1	0	0	0	0	0	0	0	1	14412	1567	55	5		5	SLC16A6	17	66267677	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	325464	66267677	14927533	7582	28507											
ARSG	22901	broad.mit.edu	37	chr17	66364738	66364738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctctggcccacatgcacGtgcccttacctgtgactcag	6	10	10	15	1	2	1	1	1	1	0	2	1	2	1	3	2	3	2	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:66364738G>A	ENST00000448504.2	+	7	1550	c.754G>A	c.(754-756)Gtg>Atg	p.V252M	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.V88M	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	252					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCACATGCACGTGCCCTTACC	0.602																																						ENST00000448504.2																			0				NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26						c.(754-756)Gtg>Atg		arylsulfatase G							91	88	89					17																	66364738		2203	4300	6503	SO:0001583	missense	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66364738G>A	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.754G>A	17.37:g.66364738G>A	ENSP00000407193:p.Val252Met					ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.V88M	p.V252M	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		7	1550	+			252					Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	c.754G>A	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896486	0.72639	.	.	ENSG00000141337	ENST00000452479;ENST00000448504	.	.	.	5.26	5.26	0.73747	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.82898	0.5137	M	0.85041	2.73	0.50813	D	0.999898	D	0.76494	0.999	D	0.65874	0.939	D	0.84390	0.0554	9	0.52906	T	0.07	.	17.8151	0.88630	0.0:0.0:1.0:0.0	.	252	Q96EG1	ARSG_HUMAN	M	252;151	.	ENSP00000407193:V151M	V	+	1	0	ARSG	63876333	1.000000	0.71417	0.997000	0.53966	0.584000	0.36387	6.848000	0.75409	2.733000	0.93635	0.655000	0.94253	GTG		0.602	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		30	34	0	0	0	1	0	30	34					A	66364738	G	A	66364738	3	1	435	1	0	0	0	0	1	0	0	0	992	1145	40	1	776	1	ARSG	17	66364738	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	97061	66364738	14830472	7583	28508											
PRKAR1A	5573	broad.mit.edu	37	chr17	66524014	66524014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaagcggaagatgtatgagGaattccttagtaaagtctct	14	11	11	5	1	1	2	0	1	1	1	3	5	2	4	1	2	1	2	1	2	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:66524014G>A	ENST00000589228.1	+	8	870	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	PRKAR1A_ENST00000392711.1_Missense_Mutation_p.E248K|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.E248K|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.E248K|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.E248K|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.E248K	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	248					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GATGTATGAGGAATTCCTTAG	0.358			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	ENST00000589228.1			yes	"Dom, Rec"	yes	Carney complex	17	17q23-q24	5573	"T, Mis, N, F, S"	"protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"			"E, M"	RET	"myxoma, endocrine, papillary thyroid"	papillary thyroid		0				adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31						c.(742-744)Gaa>Aaa		protein kinase, cAMP-dependent, regulatory, type I, alpha							171	175	173					17																	66524014		2203	4300	6503	SO:0001583	missense	5573	Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	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	g.chr17:66524014G>A		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"Carney complex type 1"	188830	"tissue specific extinguisher 1"	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.742G>A	17.37:g.66524014G>A	ENSP00000464977:p.Glu248Lys					PRKAR1A_ENST00000536854.2_Missense_Mutation_p.E248K|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.E248K|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.E248K|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.E248K|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.E248K	p.E248K	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN			8	870	+	Breast(10;1.64e-13)		248					K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	c.742G>A	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948887	0.73787	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.88354	-2.37;-2.37;-2.37	5.74	5.74	0.90152	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.87857	0.6283	M	0.66939	2.045	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.14023	0.01;0.01	D	0.83373	0.0008	10	0.40728	T	0.16	-34.6888	15.0564	0.71917	0.0698:0.0:0.9302:0.0	.	248;248	B2R5T5;P10644	.;KAP0_HUMAN	K	248	ENSP00000351410:E248K;ENSP00000376475:E248K;ENSP00000445625:E248K	ENSP00000351410:E248K	E	+	1	0	PRKAR1A	64035609	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.017000	0.88712	2.704000	0.92352	0.650000	0.86243	GAA		0.358	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			19	29	0	0	0	1	0	19	29					A	66524014	G	A	66524014	3	1	435	1	0	0	0	0	1	0	0	0	12503	1175	41	3	768	3	PRKAR1A	17	66524014	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	159276	66524014	14671196	7584	28509											
FAM20A	54757	broad.mit.edu	37	chr17	66538252	66538252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgggttgccacagacaGcatactccgtcttgcacatg	8	10	12	11	1	1	1	0	0	1	1	2	1	2	1	2	2	4	3	2	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:66538252G>A	ENST00000592554.1	-	7	1705	c.983C>T	c.(982-984)gCt>gTt	p.A328V	AC079210.1_ENST00000600820.1_5'Flank|PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	328					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GCCACAGACAGCATACTCCGT	0.612																																						ENST00000592554.1																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9						c.(982-984)gCt>gTt		family with sequence similarity 20, member A							116	89	98					17																	66538252		2203	4300	6503	SO:0001583	missense	54757					extracellular region		g.chr17:66538252G>A	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.983C>T	17.37:g.66538252G>A	ENSP00000468308:p.Ala328Val					FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	p.A328V	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN			7	1705	-	Breast(10;1.64e-13)		328					B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	c.983C>T	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740316	0.96873	.	.	ENSG00000108950	ENST00000226094	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85843	0.5791	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86387	0.1733	9	0.59425	D	0.04	-14.0864	20.5948	0.99439	0.0:0.0:1.0:0.0	.	328	Q96MK3	FA20A_HUMAN	V	328	.	ENSP00000226094:A328V	A	-	2	0	FAM20A	64049847	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	9.476000	0.97823	2.873000	0.98535	0.563000	0.77884	GCT		0.612	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		16	16	0	0	0	1	0	16	16					A	66538252	G	A	66538252	3	1	435	1	0	0	0	0	1	0	0	0	5537	971	34	3	662	3	FAM20A	17	66538252	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14238	66538252	14656958	7585	28510											
ABCA8	10351	broad.mit.edu	37	chr17	66873752	66873752	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgtcaggttgggccacagCgcgttctcctgagggcagta	7	9	14	11	2	2	1	1	1	1	0	3	1	2	1	2	3	1	4	2	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:66873752C>T	ENST00000269080.2	-	31	4124	c.3987G>A	c.(3985-3987)gcG>gcA	p.A1329A	ABCA8_ENST00000586539.1_Silent_p.A1369A|ABCA8_ENST00000430352.2_Silent_p.A1369A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1329	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGGGCCACAGCGCGTTCTCCT	0.602																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(3985-3987)gcG>gcA		ATP-binding cassette, sub-family A (ABC1), member 8							141	120	127					17																	66873752		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66873752C>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3987G>A	17.37:g.66873752C>T						ABCA8_ENST00000430352.2_Silent_p.A1369A|ABCA8_ENST00000586539.1_Silent_p.A1369A	p.A1329A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			31	4124	-	Breast(10;4.56e-13)		1329			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.3987G>A	CCDS11680.1																																																																																				0.602	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		24	70	0	0	0	1	0	24	70					T	66873752	C	T	66873752	2	4	435	1	0	0	0	0	0	0	0	1	38	755	27	1		1	ABCA8	17	66873752	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	335500	66873752	14321458	7586	28511											
ABCA6	23460	broad.mit.edu	37	chr17	67108324	67108324	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctattcccaaagtctttacCttaggtgatatccaagaccc	11	13	5	12	0	2	2	0	1	2	1	4	2	4	2	4	1	1	0	4	1	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:67108324C>T	ENST00000284425.2	-	16	2306	c.2132G>A	c.(2131-2133)aGt>aAt	p.S711N		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	711	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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)					AAGTCTTTACCTTAGGTGATA	0.383																																						ENST00000284425.2																			0				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						c.e16+1		ATP-binding cassette, sub-family A (ABC1), member 6							151	154	153					17																	67108324		2203	4300	6503	SO:0001630	splice_region_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67108324C>T	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2132+1G>A	17.37:g.67108324C>T							p.S711_splice	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			16	2306	-	Breast(10;5.65e-12)		711			ABC transporter 1.		Q6NSH9|Q8N856|Q8WWZ6	Splice_Site	SNP	ENST00000284425.2	37	c.2132_splice	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199403	0.58126	.	.	ENSG00000154262	ENST00000284425	T	0.64803	-0.12	4.76	3.78	0.43462	ABC transporter-like (1);	0.198517	0.35067	N	0.003473	T	0.80439	0.4623	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.83731	0.0198	9	.	.	.	.	13.9006	0.63802	0.1533:0.8467:0.0:0.0	.	711	Q8N139	ABCA6_HUMAN	N	711	ENSP00000284425:S711N	.	S	-	2	0	ABCA6	64619919	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	6.512000	0.73737	1.346000	0.45694	0.655000	0.94253	AGT		0.383	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	Missense_Mutation	64	93	0	0	0	1	0	64	93					T	67108324	C	T	67108324	5	4	435	1	0	0	0	0	0	0	1	0	36	695	24	3	2817	3	ABCA6	17	67108324	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	234572	67108324	14086886	7587	28512											
MAP2K6	5608	broad.mit.edu	37	chr17	67501929	67501929	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttccccataggcaagaagCgaaaccctggccttaaaatt	13	9	7	12	1	0	1	0	0	0	1	1	2	1	1	4	2	2	1	4	2	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:67501929C>T	ENST00000590474.1	+	2	312	c.25C>T	c.(25-27)Cga>Tga	p.R9*	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	9	D domain. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					AGGCAAGAAGCGAAACCCTGG	0.428																																						ENST00000590474.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.(25-27)Cga>Tga		mitogen-activated protein kinase kinase 6							137	137	137					17																	67501929		2203	4300	6503	SO:0001587	stop_gained	5608				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	g.chr17:67501929C>T	U39064	CCDS11686.1	17q	2011-06-09						"Mitogen-activated protein kinase cascade / Kinase kinases"	6846	protein-coding gene	gene with protein product	"protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.25C>T	17.37:g.67501929C>T	ENSP00000468348:p.Arg9*					MAP2K6_ENST00000589647.1_5'UTR	p.R9*	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN			2	312	+	Breast(10;6.05e-10)		9						Nonsense_Mutation	SNP	ENST00000590474.1	37	c.25C>T	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	C	38	7.095956	0.98059	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.78	3.77	0.43336	.	0.080023	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.0199	12.277	0.54741	0.4455:0.5545:0.0:0.0	.	.	.	.	X	9	.	.	R	+	1	2	MAP2K6	65013524	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.757000	0.26433	0.770000	0.33336	0.655000	0.94253	CGA		0.428	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		30	52	0	0	0	1	0	30	52					T	67501929	C	T	67501929	4	4	435	1	0	0	0	0	0	1	0	0	9241	760	27	1	31	1	MAP2K6	17	67501929	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	393605	67501929	13693281	7588	28513											
KCNJ2	3759	broad.mit.edu	37	chr17	68171424	68171424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtgtggacattcgctggCggtggatgctggttatcttc	4	14	15	8	3	1	0	0	0	1	0	3	2	1	2	0	5	1	3	0	5	1	3	rs199473373		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:68171424C>T	ENST00000243457.3	+	2	627	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	KCNJ2_ENST00000535240.1_Missense_Mutation_p.R82W	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	82					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CATTCGCTGGCGGTGGATGCT	0.517																																						ENST00000243457.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	GRCh37	CM066888	KCNJ2	M		c.(244-246)Cgg>Tgg		potassium inwardly-rectifying channel, subfamily J, member 2							220	163	182					17																	68171424		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171424C>T	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.244C>T	17.37:g.68171424C>T	ENSP00000243457:p.Arg82Trp					KCNJ2_ENST00000535240.1_Missense_Mutation_p.R82W	p.R82W	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN			2	627	+	Breast(10;1.64e-08)		82					O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.244C>T	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893406	0.52121	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.96011	-3.88;-3.88	5.66	3.63	0.41609	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98245	0.9419	H	0.94582	3.555	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.98824	1.0748	9	.	.	.	.	14.5502	0.68059	0.4435:0.5565:0.0:0.0	.	82	P63252	IRK2_HUMAN	W	82	ENSP00000441848:R82W;ENSP00000243457:R82W	.	R	+	1	2	KCNJ2	65683019	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.737000	0.47393	0.710000	0.31997	0.555000	0.69702	CGG		0.517	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		30	35	0	0	0	1	0	30	35					T	68171424	C	T	68171424	3	4	435	1	0	0	0	0	1	0	0	0	8051	759	27	1	246	1	KCNJ2	17	68171424	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	669495	68171424	13023786	7589	28514											
COG1	9382	broad.mit.edu	37	chr17	71193077	71193077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaagatgttgctcaaatGccaaggtgtgtctgaccaag	13	9	11	8	0	2	2	1	1	1	1	2	2	2	2	2	1	3	3	2	1	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:71193077G>A	ENST00000299886.4	+	3	679	c.599G>A	c.(598-600)tGc>tAc	p.C200Y	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	200					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TTGCTCAAATGCCAAGGTGTG	0.488																																						ENST00000299886.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(598-600)tGc>tAc		component of oligomeric golgi complex 1							78	78	78					17																	71193077		2203	4300	6503	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71193077G>A		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"Components of oligomeric golgi complex"	6545	protein-coding gene	gene with protein product		606973	"low density lipoprotein receptor defect B complementing"	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.599G>A	17.37:g.71193077G>A	ENSP00000299886:p.Cys200Tyr						p.C200Y	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	679	+			200					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.599G>A	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411808	0.25465	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.22945	1.93;1.93	5.55	4.58	0.56647	.	0.165528	0.56097	D	0.000040	T	0.26304	0.0642	L	0.36672	1.1	0.42493	D	0.992905	D;P;D	0.53151	0.958;0.943;0.958	P;B;P	0.47827	0.558;0.423;0.558	T	0.02958	-1.1089	10	0.62326	D	0.03	-13.9151	10.8588	0.46815	0.0721:0.1985:0.7294:0.0	.	200;200;200	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	Y	200	ENSP00000400111:C200Y;ENSP00000299886:C200Y	ENSP00000299886:C200Y	C	+	2	0	COG1	68704672	1.000000	0.71417	0.987000	0.45799	0.948000	0.59901	4.432000	0.59922	1.340000	0.45581	0.655000	0.94253	TGC		0.488	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			10	25	0	0	0	1	0	10	25					A	71193077	G	A	71193077	3	1	435	1	0	0	0	0	1	0	0	0	3657	1319	46	3	609	3	COG1	17	71193077	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3021653	71193077	10002133	7590	28515											
FAM104A	84923	broad.mit.edu	37	chr17	71228390	71228390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgcagccggtggcgagtacCcctcagtcggacccgtacca	8	5	12	16	5	1	0	1	0	0	0	2	2	1	1	5	3	3	3	5	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:71228390C>T	ENST00000403627.3	-	1	116	c.56G>A	c.(55-57)gGg>gAg	p.G19E	C17orf80_ENST00000577615.1_5'Flank|FAM104A_ENST00000405159.3_Missense_Mutation_p.G19E|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000582793.1_5'Flank|C17orf80_ENST00000268942.8_5'Flank|FAM104A_ENST00000583024.1_Missense_Mutation_p.G19E|C17orf80_ENST00000535032.2_5'Flank|C17orf80_ENST00000359042.2_5'Flank|C17orf80_ENST00000255557.4_5'UTR|C17orf80_ENST00000426147.2_5'Flank|FAM104A_ENST00000581110.1_Missense_Mutation_p.G19E	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	19										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TGGCGAGTACCCCTCAGTCGG	0.721																																						ENST00000405159.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(55-57)gGg>gAg		family with sequence similarity 104, member A							22	30	27					17																	71228390		2167	4252	6419	SO:0001583	missense	84923							g.chr17:71228390C>T	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.56G>A	17.37:g.71228390C>T	ENSP00000384648:p.Gly19Glu					FAM104A_ENST00000403627.3_Missense_Mutation_p.G19E|FAM104A_ENST00000583178.1_Intron|FAM104A_ENST00000581110.1_Missense_Mutation_p.G19E|C17orf80_ENST00000255557.4_5'UTR|FAM104A_ENST00000583024.1_Missense_Mutation_p.G19E	p.G19E	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		1	120	-			19					B4E339	Missense_Mutation	SNP	ENST00000403627.3	37	c.56G>A	CCDS11693.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468397	0.84533	.	.	ENSG00000133193	ENST00000403627;ENST00000405159	T;T	0.60548	0.39;0.18	5.1	5.1	0.69264	.	.	.	.	.	T	0.57403	0.2051	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.981;0.99	T	0.65825	-0.6074	9	0.87932	D	0	.	13.9232	0.63945	0.0:1.0:0.0:0.0	.	19;19	Q969W3-2;Q969W3	.;F104A_HUMAN	E	19	ENSP00000384648:G19E;ENSP00000384832:G19E	ENSP00000384648:G19E	G	-	2	0	FAM104A	68739985	1.000000	0.71417	0.952000	0.39060	0.600000	0.36913	3.051000	0.49885	2.652000	0.90054	0.655000	0.94253	GGG		0.721	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		14	35	0	0	0	1	0	14	35					T	71228390	C	T	71228390	3	4	435	1	0	0	0	0	1	0	0	0	5385	623	22	3	583	3	FAM104A	17	71228390	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	35313	71228390	9966820	7591	28516											
SDK2	54549	broad.mit.edu	37	chr17	71384050	71384050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgccgctgggcagctcgCgggtctggatggtgtagtag	5	9	17	10	3	1	0	0	0	1	0	2	1	1	1	2	4	2	5	2	4	2	2	rs377237314	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:71384050C>T	ENST00000392650.3	-	30	4319	c.4319G>A	c.(4318-4320)cGc>cAc	p.R1440H	SDK2_ENST00000388726.3_Missense_Mutation_p.R1440H	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1440	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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						GGGCAGCTCGCGGGTCTGGAT	0.647													C|||	2	0.000399361	0.0015	0	5008	,	,		15433	0		0	False		,,,				2504	0					ENST00000392650.3																			0				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						c.(4318-4320)cGc>cAc		sidekick cell adhesion molecule 2		C	HIS/ARG	3,4401		0,3,2199	28	21	23		4319	3.6	1	17		23	0,8588		0,0,4294	no	missense	SDK2	NM_001144952.1	29	0,3,6493	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	1440/2173	71384050	3,12989	2202	4294	6496	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71384050C>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4319G>A	17.37:g.71384050C>T	ENSP00000376421:p.Arg1440His					SDK2_ENST00000388726.3_Missense_Mutation_p.R1440H	p.R1440H	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			30	4319	-			1440			Fibronectin type-III 9.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.4319G>A	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024432	0.75390	6.81E-4	0.0	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.59502	0.26;0.26;0.26	4.58	3.6	0.41247	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.061558	0.64402	D	0.000003	T	0.73659	0.3615	M	0.89478	3.035	0.40011	D	0.975285	D;D;D	0.89917	1.0;0.998;0.995	P;P;P	0.62491	0.888;0.903;0.843	T	0.76189	-0.3050	10	0.87932	D	0	.	7.4053	0.26987	0.1653:0.7475:0.0:0.0872	.	1440;1440;1440	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	H	1064;1440;1440;616;1440	ENSP00000376421:R1440H;ENSP00000373378:R1440H;ENSP00000407098:R616H	ENSP00000324967:R1440H	R	-	2	0	SDK2	68895645	0.995000	0.38212	0.974000	0.42286	0.870000	0.49936	3.257000	0.51500	0.915000	0.36847	0.462000	0.41574	CGC		0.647	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		5	6	0	0	0	1	0	5	6					T	71384050	C	T	71384050	3	4	435	1	0	0	0	0	1	0	0	0	13969	768	27	1	2263	1	SDK2	17	71384050	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	155660	71384050	9811160	7592	28517											
SDK2	54549	broad.mit.edu	37	chr17	71384170	71384170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggcctgctggggggctgcGgacggtctgggaggtggcag	3	7	22	9	3	1	0	0	0	1	0	2	2	1	2	1	9	2	3	1	9	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:71384170G>A	ENST00000392650.3	-	30	4199	c.4199C>T	c.(4198-4200)cCg>cTg	p.P1400L	SDK2_ENST00000388726.3_Missense_Mutation_p.P1400L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1400					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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						GGGGGGCTGCGGACGGTCTGG	0.687																																						ENST00000392650.3																			0				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						c.(4198-4200)cCg>cTg		sidekick cell adhesion molecule 2							8	8	8					17																	71384170		2171	4242	6413	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71384170G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4199C>T	17.37:g.71384170G>A	ENSP00000376421:p.Pro1400Leu					SDK2_ENST00000388726.3_Missense_Mutation_p.P1400L	p.P1400L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			30	4199	-			1400			Fibronectin type-III 9.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.4199C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562397	0.86335	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	D;D;D	0.86432	-2.12;-2.12;-2.12	4.82	4.82	0.62117	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96049	0.8713	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.97774	1.0228	10	0.72032	D	0.01	.	17.478	0.87666	0.0:0.0:1.0:0.0	.	1400;1400;1400	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	L	1024;1400;1400;576;1400	ENSP00000376421:P1400L;ENSP00000373378:P1400L;ENSP00000407098:P576L	ENSP00000324967:P1400L	P	-	2	0	SDK2	68895765	1.000000	0.71417	0.996000	0.52242	0.809000	0.45718	8.895000	0.92512	2.228000	0.72767	0.462000	0.41574	CCG		0.687	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		3	4	0	0	0	1	0	3	4					A	71384170	G	A	71384170	3	1	435	1	0	0	0	0	1	0	0	0	13969	1116	39	2	2383	2	SDK2	17	71384170	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	120	71384170	9811040	7593	28518											
SDK2	54549	broad.mit.edu	37	chr17	71394314	71394314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccacgatgttcacctggcGcatgcggaagctggggttgg	6	8	16	11	3	1	0	1	0	0	0	1	2	1	1	2	5	2	4	2	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:71394314G>A	ENST00000392650.3	-	24	3214	c.3214C>T	c.(3214-3216)Cgc>Tgc	p.R1072C	SDK2_ENST00000388726.3_Missense_Mutation_p.R1072C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1072	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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						TTCACCTGGCGCATGCGGAAG	0.622																																						ENST00000392650.3																			0				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						c.(3214-3216)Cgc>Tgc		sidekick cell adhesion molecule 2							35	41	39					17																	71394314		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71394314G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3214C>T	17.37:g.71394314G>A	ENSP00000376421:p.Arg1072Cys					SDK2_ENST00000388726.3_Missense_Mutation_p.R1072C	p.R1072C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			24	3214	-			1072			Fibronectin type-III 5.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.3214C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117052	0.77323	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.58940	0.3;0.3;0.3	4.51	4.51	0.55191	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.061993	0.64402	D	0.000005	T	0.76205	0.3955	M	0.81497	2.545	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.70227	0.968;0.959;0.931	T	0.77278	-0.2647	10	0.38643	T	0.18	.	17.4122	0.87489	0.0:0.0:1.0:0.0	.	1072;1072;1072	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	C	696;1072;1072;248;1072	ENSP00000376421:R1072C;ENSP00000373378:R1072C;ENSP00000407098:R248C	ENSP00000324967:R1072C	R	-	1	0	SDK2	68905909	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	4.245000	0.58734	2.328000	0.79073	0.462000	0.41574	CGC		0.622	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		8	22	0	0	0	1	0	8	22					A	71394314	G	A	71394314	3	1	435	1	0	0	0	0	1	0	0	0	13969	1087	38	1	3392	1	SDK2	17	71394314	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10144	71394314	9800896	7594	28519											
SDK2	54549	broad.mit.edu	37	chr17	71431641	71431641	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgccggctgcattgcgggcGaagcactggaacatgccggt	7	7	15	12	5	0	0	0	0	0	0	1	2	0	1	2	4	5	3	2	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:71431641G>A	ENST00000392650.3	-	9	1143	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	SDK2_ENST00000388726.3_Silent_p.F381F	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	381	Ig-like C2-type 4.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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						CATTGCGGGCGAAGCACTGGA	0.637																																						ENST00000392650.3																			0				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						c.(1141-1143)ttC>ttT		sidekick cell adhesion molecule 2							56	41	46					17																	71431641		2203	4297	6500	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71431641G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1143C>T	17.37:g.71431641G>A						SDK2_ENST00000388726.3_Silent_p.F381F	p.F381F	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			9	1143	-			381			Ig-like C2-type 4.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.1143C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	9.392	1.075848	0.20227	.	.	ENSG00000069188	ENST00000416616	.	.	.	4.75	-3.95	0.04118	.	.	.	.	.	T	0.62122	0.2402	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60885	-0.7174	4	.	.	.	.	12.9413	0.58345	0.6695:0.0:0.3305:0.0	.	.	.	.	C	286	.	.	R	-	1	0	SDK2	68943236	0.000000	0.05858	0.932000	0.37286	0.797000	0.45037	-1.849000	0.01672	-0.811000	0.04369	-0.424000	0.05967	CGC		0.637	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		6	7	0	0	0	1	0	6	7					A	71431641	G	A	71431641	2	1	435	1	0	0	0	0	0	0	0	1	13969	1049	37	2		2	SDK2	17	71431641	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	37327	71431641	9763569	7595	28520											
DNAI2	64446	broad.mit.edu	37	chr17	72306164	72306164	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcaataggtgtgtgaCgaggccctcttctgcctccg	5	11	10	15	2	3	1	1	1	2	0	4	2	4	1	5	2	1	0	5	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72306164C>T	ENST00000311014.6	+	11	1423	c.1356C>T	c.(1354-1356)gaC>gaT	p.D452D	DNAI2_ENST00000446837.2_Silent_p.D452D|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000307504.5_Silent_p.D309D|AC103809.1_ENST00000516976.1_RNA|DNAI2_ENST00000579490.1_Silent_p.D509D|DNAI2_ENST00000582036.1_Intron			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	452					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGTGTGTGACGAGGCCCTCT	0.617									Kartagener syndrome																													ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1525-1527)gaC>gaT		dynein, axonemal, intermediate chain 2							58	53	55					17																	72306164		2203	4300	6503	SO:0001819	synonymous_variant	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72306164C>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1356C>T	17.37:g.72306164C>T						DNAI2_ENST00000446837.2_Silent_p.D452D|DNAI2_ENST00000582036.1_Intron|DNAI2_ENST00000307504.5_Silent_p.D309D|DNAI2_ENST00000311014.6_Silent_p.D452D	p.D509D			Q9GZS0	DNAI2_HUMAN			10	1662	+			452					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	c.1527C>T	CCDS11697.1																																																																																				0.617	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		16	27	0	0	0	1	0	16	27					T	72306164	C	T	72306164	2	4	435	1	0	0	0	0	0	0	0	1	4610	535	19	1		1	DNAI2	17	72306164	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	874523	72306164	8889046	7596	28521											
KIF19	124602	broad.mit.edu	37	chr17	72347026	72347026	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctggtggacgagcagaaGcaactgcgcaagcagaaggt	12	4	15	10	2	0	2	0	0	0	2	0	4	0	3	1	3	5	4	1	3	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72347026G>A	ENST00000389916.4	+	12	1707	c.1569G>A	c.(1567-1569)aaG>aaA	p.K523K	AC103809.2_ENST00000599136.1_Silent_p.C95C	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	523					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ACGAGCAGAAGCAACTGCGCA	0.622																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1567-1569)aaG>aaA		kinesin family member 19							102	104	103					17																	72347026		2203	4300	6503	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72347026G>A	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1569G>A	17.37:g.72347026G>A						AC103809.2_ENST00000599136.1_Silent_p.C95C	p.K523K	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			12	1707	+			523					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.1569G>A	CCDS32718.2																																																																																				0.622	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		29	48	0	0	0	1	0	29	48					A	72347026	G	A	72347026	2	1	435	1	0	0	0	0	0	0	0	1	8282	962	34	3		3	KIF19	17	72347026	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	40862	72347026	8848184	7597	28522											
GPRC5C	55890	broad.mit.edu	37	chr17	72443003	72443003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagtccgaaggagcttacGacatcatcctcccacgggcc	9	7	9	16	3	1	0	1	0	0	0	5	3	5	1	5	2	2	1	5	2	2	1	rs367868727		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72443003G>A	ENST00000392627.1	+	4	2423	c.1297G>A	c.(1297-1299)Gac>Aac	p.D433N	GPRC5C_ENST00000342648.5_Missense_Mutation_p.D73N|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000392629.2_Missense_Mutation_p.D400N|GPRC5C_ENST00000481232.1_3'UTR	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	388					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AGGAGCTTACGACATCATCCT	0.637																																						ENST00000392627.1																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						c.(1297-1299)Gac>Aac		G protein-coupled receptor, family C, group 5, member C		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	51	46	48		1198,1297	5.6	1	17		48	1,8599		0,1,4299	no	missense,missense	GPRC5C	NM_018653.3,NM_022036.2	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	400/454,433/487	72443003	1,13005	2203	4300	6503	SO:0001583	missense	0					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72443003G>A	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"GPCR / Class C : Orphans"	13309	protein-coding gene	gene with protein product		605949	"G protein-coupled receptor, family C, group 5, member C"			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1297G>A	17.37:g.72443003G>A	ENSP00000376403:p.Asp433Asn					GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000342648.5_Missense_Mutation_p.D73N|GPRC5C_ENST00000481232.1_3'UTR|GPRC5C_ENST00000392629.2_Missense_Mutation_p.D400N	p.D433N	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN			4	2423	+			388					B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	c.1297G>A	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260736	0.95368	0.0	1.16E-4	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.24350	1.86	5.59	5.59	0.84812	.	0.165515	0.52532	D	0.000070	T	0.42966	0.1226	L	0.34521	1.04	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;0.998;0.998;0.999	D;P;P;P	0.97110	1.0;0.794;0.794;0.845	T	0.30736	-0.9968	10	0.87932	D	0	-32.7619	18.1601	0.89705	0.0:0.0:1.0:0.0	.	99;388;388;400	Q9NXI0;A8MXZ4;Q9NQ84;Q9NQ84-2	.;.;GPC5C_HUMAN;.	N	388;433;99;400;388	ENSP00000376405:D400N	ENSP00000262616:D99N	D	+	1	0	GPRC5C	69954598	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	5.172000	0.65003	2.648000	0.89879	0.561000	0.74099	GAC		0.637	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			13	23	0	0	0	1	0	13	23					A	72443003	G	A	72443003	3	1	435	1	0	0	0	0	1	0	0	0	6726	1058	37	2	1319	2	GPRC5C	17	72443003	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	95977	72443003	8752207	7598	28523											
RAB37	326624	broad.mit.edu	37	chr17	72736966	72736966	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgatccaattcaaagaCggggccttcctgtccggaac	9	10	9	13	2	1	2	1	1	0	1	5	3	5	3	5	3	1	0	5	3	3	3	rs530556816		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72736966C>T	ENST00000392613.5	+	2	209	c.153C>T	c.(151-153)gaC>gaT	p.D51D	RAB37_ENST00000392612.3_Intron|RAB37_ENST00000392614.4_Silent_p.D56D|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000392610.1_Silent_p.D51D|RAB37_ENST00000528438.1_Silent_p.D24D|RAB37_ENST00000340415.3_Intron	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	51					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						AATTCAAAGACGGGGCCTTCC	0.587																																						ENST00000392610.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(151-153)gaC>gaT		RAB37, member RAS oncogene family							140	139	139					17																	72736966		2203	4300	6503	SO:0001819	synonymous_variant	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72736966C>T	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"RAB, member RAS oncogene"	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.153C>T	17.37:g.72736966C>T						RAB37_ENST00000340415.3_Intron|RAB37_ENST00000392614.4_Silent_p.D56D|RAB37_ENST00000392613.5_Silent_p.D51D|RAB37_ENST00000528438.1_Silent_p.D24D|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392612.3_Intron	p.D51D			Q96AX2	RAB37_HUMAN			2	194	+			51					A8MXF5|A8MYT0|Q8IWA7	Silent	SNP	ENST00000392613.5	37	c.153C>T	CCDS32722.1																																																																																				0.587	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		54	76	0	0	0	1	0	54	76					T	72736966	C	T	72736966	2	4	435	1	0	0	0	0	0	0	0	1	12927	535	19	1		1	RAB37	17	72736966	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	293963	72736966	8458244	7599	28524											
NAT9	26151	broad.mit.edu	37	chr17	72769791	72769791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccgaggctgtcaaacgCtgcagctcctctgatttcat	7	11	10	13	2	3	1	2	1	1	0	5	2	5	1	2	2	3	5	2	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72769791C>A	ENST00000357814.3	-	3	187	c.114G>T	c.(112-114)caG>caT	p.Q38H	TMEM104_ENST00000582773.1_5'Flank|NAT9_ENST00000580632.1_Missense_Mutation_p.Q37H|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000583476.1_Missense_Mutation_p.Q38H|TMEM104_ENST00000417024.2_5'Flank|NAT9_ENST00000581136.1_Missense_Mutation_p.Q38H|NAT9_ENST00000583757.1_Missense_Mutation_p.Q37H|NAT9_ENST00000580301.1_Missense_Mutation_p.Q37H|TMEM104_ENST00000335464.5_5'Flank|NAT9_ENST00000578822.1_Missense_Mutation_p.Q43H|TMEM104_ENST00000582330.1_5'Flank|NAT9_ENST00000582524.1_Missense_Mutation_p.Q38H|NAT9_ENST00000582870.1_Missense_Mutation_p.Q42H	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	38	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						CTGTCAAACGCTGCAGCTCCT	0.577																																						ENST00000357814.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						c.(112-114)caG>caT		N-acetyltransferase 9 (GCN5-related, putative)							104	95	98					17																	72769791		2203	4300	6503	SO:0001583	missense	26151					protein complex	N-acetyltransferase activity	g.chr17:72769791C>A	AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"N-acetyltransferase 9"			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.114G>T	17.37:g.72769791C>A	ENSP00000350467:p.Gln38His					NAT9_ENST00000582524.1_Missense_Mutation_p.Q38H|NAT9_ENST00000580632.1_Missense_Mutation_p.Q37H|NAT9_ENST00000580301.1_Missense_Mutation_p.Q37H|NAT9_ENST00000578822.1_Missense_Mutation_p.Q43H|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000583757.1_Missense_Mutation_p.Q37H|NAT9_ENST00000582870.1_Missense_Mutation_p.Q42H|NAT9_ENST00000581136.1_Missense_Mutation_p.Q38H|NAT9_ENST00000583476.1_Missense_Mutation_p.Q38H	p.Q38H	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN			3	187	-			38			N-acetyltransferase.		B2R7F0|Q9BTD0|Q9Y3T3	Missense_Mutation	SNP	ENST00000357814.3	37	c.114G>T	CCDS11706.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.498765	0.44455	.	.	ENSG00000109065	ENST00000357814	T	0.46451	0.87	4.87	4.87	0.63330	Acyl-CoA N-acyltransferase (2);	0.059235	0.64402	D	0.000001	T	0.68622	0.3021	M	0.92691	3.335	0.47308	D	0.999385	D;D	0.69078	0.989;0.997	D;D	0.69307	0.914;0.963	T	0.72218	-0.4357	10	0.31617	T	0.26	-13.4024	12.8094	0.57631	0.0:0.9203:0.0:0.0797	.	37;38	Q9BTE0-2;Q9BTE0	.;NAT9_HUMAN	H	38	ENSP00000350467:Q38H	ENSP00000350467:Q38H	Q	-	3	2	NAT9	70281386	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.915000	0.63355	2.406000	0.81754	0.313000	0.20887	CAG		0.577	NAT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443700.1	NM_015654		17	36	1	0	5.03518e-11	1	5.40566e-11	17	36					A	72769791	C	A	72769791	3	1	435	1	0	0	0	0	1	0	0	0	10182	796	28	5	529	5	NAT9	17	72769791	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32825	72769791	8425419	7600	28525											
GRIN2C	2905	broad.mit.edu	37	chr17	72843504	72843504	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttggatcatgaaggcGgccaggttggccgtgtagct	6	11	15	9	2	2	1	1	1	1	0	2	2	2	2	2	5	2	4	2	5	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72843504G>A	ENST00000293190.5	-	9	2090	c.1944C>T	c.(1942-1944)gcC>gcT	p.A648A	GRIN2C_ENST00000347612.4_Silent_p.A648A	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	648					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCATGAAGGCGGCCAGGTTGG	0.607																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1942-1944)gcC>gcT		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						126	114	118					17																	72843504		2203	4300	6503	SO:0001819	synonymous_variant	2905				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	g.chr17:72843504G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1944C>T	17.37:g.72843504G>A						GRIN2C_ENST00000347612.4_Silent_p.A648A	p.A648A	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			9	2090	-	all_lung(278;0.172)|Lung NSC(278;0.207)		648					B2RTT1	Silent	SNP	ENST00000293190.5	37	c.1944C>T	CCDS32724.1																																																																																				0.607	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			36	61	0	0	0	1	0	36	61					A	72843504	G	A	72843504	2	1	435	1	0	0	0	0	0	0	0	1	6781	1103	39	2		2	GRIN2C	17	72843504	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	73713	72843504	8351706	7601	28526											
GRIN2C	2905	broad.mit.edu	37	chr17	72843517	72843517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggcggccaggttggccGtgtagctggcgaggaagatg	8	7	19	7	3	0	2	0	1	0	1	0	4	0	3	2	6	1	3	2	6	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72843517G>A	ENST00000293190.5	-	9	2077	c.1931C>T	c.(1930-1932)aCg>aTg	p.T644M	GRIN2C_ENST00000347612.4_Missense_Mutation_p.T644M	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	644					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGGTTGGCCGTGTAGCTGGC	0.582																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1930-1932)aCg>aTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						123	111	115					17																	72843517		2203	4300	6503	SO:0001583	missense	2905				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	g.chr17:72843517G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1931C>T	17.37:g.72843517G>A	ENSP00000293190:p.Thr644Met					GRIN2C_ENST00000347612.4_Missense_Mutation_p.T644M	p.T644M	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			9	2077	-	all_lung(278;0.172)|Lung NSC(278;0.207)		644					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.1931C>T	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453739	0.43531	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.61627	0.09	4.2	4.2	0.49525	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.80341	0.4605	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85532	0.1210	10	0.87932	D	0	.	16.6827	0.85297	0.0:0.0:1.0:0.0	.	678;644	Q8IW23;Q14957	.;NMDE3_HUMAN	M	644;678	ENSP00000293190:T644M	ENSP00000293190:T644M	T	-	2	0	GRIN2C	70355112	1.000000	0.71417	0.971000	0.41717	0.993000	0.82548	9.588000	0.98232	2.309000	0.77851	0.491000	0.48974	ACG		0.582	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			4	91	0	0	0	1	0	4	91					A	72843517	G	A	72843517	3	1	435	1	0	0	0	0	1	0	0	0	6781	1145	40	1	1790	1	GRIN2C	17	72843517	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13	72843517	8351693	7602	28527											
GRIN2C	2905	broad.mit.edu	37	chr17	72846864	72846864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgtagcgaggccacaCggggtacttcatgtatagga	10	8	14	9	2	1	0	1	0	0	0	1	2	1	1	1	5	2	4	1	5	4	5	rs200999765		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72846864C>T	ENST00000293190.5	-	5	1302	c.1156G>A	c.(1156-1158)Gtg>Atg	p.V386M	GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_Missense_Mutation_p.V386M	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	386					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGAGGCCACACGGGGTACTTC	0.657																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1156-1158)Gtg>Atg		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	65	45	52		1156	4.3	0.9	17		52	3,8597	3.0+/-9.4	0,3,4297	yes	missense	GRIN2C	NM_000835.3	21	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging	386/1234	72846864	4,13002	2203	4300	6503	SO:0001583	missense	2905				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	g.chr17:72846864C>T		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1156G>A	17.37:g.72846864C>T	ENSP00000293190:p.Val386Met					GRIN2C_ENST00000347612.4_Missense_Mutation_p.V386M	p.V386M	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			5	1302	-	all_lung(278;0.172)|Lung NSC(278;0.207)		386					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.1156G>A	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336191	0.41398	2.27E-4	3.49E-4	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.07688	3.17	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	M	0.87180	2.865	0.47584	D	0.999466	D;D	0.76494	0.989;0.999	P;D	0.70227	0.832;0.968	T	0.38351	-0.9665	10	0.87932	D	0	.	16.8807	0.86062	0.0:1.0:0.0:0.0	.	420;386	Q8IW23;Q14957	.;NMDE3_HUMAN	M	386;420	ENSP00000293190:V386M	ENSP00000293190:V386M	V	-	1	0	GRIN2C	70358459	1.000000	0.71417	0.941000	0.38009	0.862000	0.49288	5.886000	0.69743	2.373000	0.80994	0.555000	0.69702	GTG		0.657	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			6	12	0	0	0	1	0	6	12					T	72846864	C	T	72846864	3	4	435	1	0	0	0	0	1	0	0	0	6781	536	19	1	2581	1	GRIN2C	17	72846864	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3347	72846864	8348346	7603	28528											
FDXR	2232	broad.mit.edu	37	chr17	72859228	72859228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcagggcctggatggctgCgtagccaggcctggggccag	6	5	19	11	1	0	0	0	0	0	0	0	2	0	1	4	6	3	3	4	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72859228C>T	ENST00000293195.5	-	11	1393	c.1315G>A	c.(1315-1317)Gca>Aca	p.A439T	FDXR_ENST00000413947.2_Missense_Mutation_p.A470T|FDXR_ENST00000582944.1_Missense_Mutation_p.A431T|FDXR_ENST00000420580.2_Missense_Mutation_p.A399T|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000455107.2_3'UTR|GRIN2C_ENST00000347612.4_5'Flank|FDXR_ENST00000442102.2_Missense_Mutation_p.A482T|FDXR_ENST00000544854.1_Missense_Mutation_p.A387T|FDXR_ENST00000583917.1_Missense_Mutation_p.A411T|FDXR_ENST00000581530.1_Missense_Mutation_p.A445T	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	439					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	TGGATGGCTGCGTAGCCAGGC	0.647																																						ENST00000442102.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(1444-1446)Gca>Aca		ferredoxin reductase							28	27	27					17																	72859228		2203	4300	6503	SO:0001583	missense	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72859228C>T	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"adrenodoxin-NADP(+) reductase", "adrenodoxin reductase"	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.1315G>A	17.37:g.72859228C>T	ENSP00000293195:p.Ala439Thr					FDXR_ENST00000420580.2_Missense_Mutation_p.A399T|FDXR_ENST00000544854.1_Missense_Mutation_p.A387T|FDXR_ENST00000583917.1_Missense_Mutation_p.A411T|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000413947.2_Missense_Mutation_p.A470T|FDXR_ENST00000582944.1_Missense_Mutation_p.A431T|FDXR_ENST00000581530.1_Missense_Mutation_p.A445T|FDXR_ENST00000293195.5_Missense_Mutation_p.A439T	p.A482T	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN			11	1530	-	all_lung(278;0.172)|Lung NSC(278;0.207)		439					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.1444G>A	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	C	5.014	0.188230	0.09547	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000442102;ENST00000413947	T;T;T;T	0.22336	3.12;3.12;1.96;1.96	4.84	-4.04	0.04010	NAD(P)-binding domain (1);	1.052530	0.07387	N	0.888454	T	0.14227	0.0344	L	0.41906	1.305	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.10296	0.0;0.003;0.003;0.002;0.002;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.13407	0.0;0.009;0.001;0.0;0.001;0.0;0.001;0.0;0.001;0.001	T	0.37596	-0.9699	10	0.26408	T	0.33	-0.8996	6.2508	0.20845	0.2196:0.521:0.0:0.2594	.	399;482;470;437;387;470;439;431;439;445	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	T	399;387;445;482;470	ENSP00000414172:A399T;ENSP00000445432:A387T;ENSP00000416515:A482T;ENSP00000408595:A470T	ENSP00000293195:A445T	A	-	1	0	FDXR	70370823	0.000000	0.05858	0.000000	0.03702	0.240000	0.25518	-0.623000	0.05546	-0.431000	0.07307	0.462000	0.41574	GCA		0.647	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		10	9	0	0	0	1	0	10	9					T	72859228	C	T	72859228	3	4	435	1	0	0	0	0	1	0	0	0	5807	768	27	1	168	1	FDXR	17	72859228	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12364	72859228	8335982	7604	28529											
USH1G	124590	broad.mit.edu	37	chr17	72916331	72916331	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcgtggcctgagagtaCggcaggtggctgcccagcgc	6	6	17	12	3	0	1	0	1	0	1	0	2	0	1	2	4	5	4	2	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72916331C>T	ENST00000319642.1	-	2	782	c.600G>A	c.(598-600)ccG>ccA	p.P200P		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	200					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCTGAGAGTACGGCAGGTGGC	0.677																																						ENST00000319642.1																		HN1/USH1G(2)	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(598-600)ccG>ccA		Usher syndrome 1G (autosomal recessive)							32	34	33					17																	72916331		2175	4247	6422	SO:0001819	synonymous_variant	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72916331C>T	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.600G>A	17.37:g.72916331C>T							p.P200P	NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN			2	782	-	all_lung(278;0.172)|Lung NSC(278;0.207)		200					Q8N251	Silent	SNP	ENST00000319642.1	37	c.600G>A	CCDS32725.1																																																																																				0.677	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		25	20	0	0	0	1	0	25	20					T	72916331	C	T	72916331	2	4	435	1	0	0	0	0	0	0	0	1	17032	523	19	1		1	USH1G	17	72916331	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	57103	72916331	8278879	7605	28530											
OTOP3	347741	broad.mit.edu	37	chr17	72943091	72943091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctactatgccttctatgtgGctgtgctgcccaccatgagt	6	14	9	12	0	2	1	0	1	2	0	2	1	2	1	3	1	4	2	3	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72943091G>A	ENST00000328801.4	+	6	1141	c.1141G>A	c.(1141-1143)Gct>Act	p.A381T		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	381						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CTTCTATGTGGCTGTGCTGCC	0.602																																						ENST00000328801.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1141-1143)Gct>Act		otopetrin 3							73	58	63					17																	72943091		2203	4300	6503	SO:0001583	missense	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72943091G>A	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1141G>A	17.37:g.72943091G>A	ENSP00000328090:p.Ala381Thr						p.A381T	NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN			6	1141	+	all_lung(278;0.151)|Lung NSC(278;0.185)		381						Missense_Mutation	SNP	ENST00000328801.4	37	c.1141G>A	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	G	2.800	-0.249453	0.05867	.	.	ENSG00000182938	ENST00000328801	T	0.22336	1.96	4.4	2.1	0.27182	.	0.474498	0.20869	N	0.084217	T	0.10981	0.0268	N	0.20766	0.605	0.09310	N	1	B	0.15473	0.013	B	0.19946	0.027	T	0.19192	-1.0313	10	0.33141	T	0.24	-19.338	3.9071	0.09186	0.323:0.0:0.5021:0.1749	.	381	Q7RTS5	OTOP3_HUMAN	T	381	ENSP00000328090:A381T	ENSP00000328090:A381T	A	+	1	0	OTOP3	70454686	0.539000	0.26402	0.267000	0.24556	0.177000	0.22998	3.751000	0.55165	0.821000	0.34540	0.462000	0.41574	GCT		0.602	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		24	30	0	0	0	1	0	24	30					A	72943091	G	A	72943091	3	1	435	1	0	0	0	0	1	0	0	0	11307	1203	42	3	1163	3	OTOP3	17	72943091	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26760	72943091	8252119	7606	28531											
C17orf28	283987	broad.mit.edu	37	chr17	72954478	72954478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggatgtccatgggcacgcGgattgagtagggtttgttca	7	12	16	6	2	1	1	1	1	0	0	2	3	2	3	1	4	0	4	1	4	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72954478G>A	ENST00000425042.2	-	11	1413	c.1336C>T	c.(1336-1338)Cgc>Tgc	p.R446C		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	446					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											ATGGGCACGCGGATTGAGTAG	0.642											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000425042.2																			0											c.(1336-1338)Cgc>Tgc		HID1 domain containing							64	47	53					17																	72954478		2203	4300	6503	SO:0001583	missense	283987							g.chr17:72954478G>A		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"downregulated in multiple cancer 1"	605752	"chromosome 17 open reading frame 28"	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1336C>T	17.37:g.72954478G>A	ENSP00000413520:p.Arg446Cys		OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1141		p.R446C	NM_030630.2	NP_085133.1					11	1413	-								Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	c.1336C>T	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837233	0.71373	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	4.93	4.93	0.64822	.	0.178963	0.49916	D	0.000127	T	0.77671	0.4165	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	T	0.80856	-0.1195	9	0.72032	D	0.01	-17.0154	18.1326	0.89606	0.0:0.0:1.0:0.0	.	446	Q8IV36	CQ028_HUMAN	C	218;446;218	.	ENSP00000317795:R218C	R	-	1	0	C17orf28	70466073	1.000000	0.71417	0.143000	0.22291	0.251000	0.25915	7.639000	0.83342	2.284000	0.76573	0.561000	0.74099	CGC		0.642	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		5	7	0	0	0	1	0	5	7					A	72954478	G	A	72954478	3	1	435	1	0	0	0	0	1	0	0	0	1853	1116	39	2	1066	2	C17orf28	17	72954478	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11387	72954478	8240732	7607	28532											
NUP85	79902	broad.mit.edu	37	chr17	73208112	73208112	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgagtgagtaaaaactacCgatcagtcatcagagcatgt	14	10	9	8	2	3	2	3	1	0	1	4	4	3	2	1	0	3	2	1	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73208112C>T	ENST00000245544.4	+	4	387	c.316C>T	c.(316-318)Cga>Tga	p.R106*	NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000579324.1_5'UTR|NUP85_ENST00000579298.1_Nonsense_Mutation_p.R106*|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000541827.1_Nonsense_Mutation_p.R60*	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	106					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TAAAAACTACCGATCAGTCAT	0.448																																						ENST00000245544.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(316-318)Cga>Tga		nucleoporin 85kDa							136	112	120					17																	73208112		2203	4300	6503	SO:0001587	stop_gained	79902				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	g.chr17:73208112C>T	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.316C>T	17.37:g.73208112C>T	ENSP00000245544:p.Arg106*					NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000541827.1_Nonsense_Mutation_p.R60*|NUP85_ENST00000579298.1_Nonsense_Mutation_p.R106*|NUP85_ENST00000579324.1_5'UTR|NUP85_ENST00000449421.2_3'UTR	p.R106*	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		4	387	+	all_lung(278;0.14)|Lung NSC(278;0.168)		106					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Nonsense_Mutation	SNP	ENST00000245544.4	37	c.316C>T	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	C	36	5.840129	0.97009	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000449421	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8954	18.7185	0.91685	0.0:1.0:0.0:0.0	.	.	.	.	X	106;60;60	.	ENSP00000245544:R106X	R	+	1	2	NUP85	70719707	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.164000	0.50770	2.513000	0.84729	0.591000	0.81541	CGA		0.448	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		7	19	0	0	0	1	0	7	19					T	73208112	C	T	73208112	4	4	435	1	0	0	0	0	0	1	0	0	10770	644	23	2	330	2	NUP85	17	73208112	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	253634	73208112	7987098	7608	28533											
KIAA0195	9772	broad.mit.edu	37	chr17	73493881	73493881	+	Frame_Shift_Del	DEL	C	C	-																															gcatctctctgctggggaagCccccccatagctccatcatg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73493881delC	ENST00000314256.7	+	27	3821	c.3427delC	c.(3427-3429)cccfs	p.P1144fs	KIAA0195_ENST00000579208.1_Frame_Shift_Del_p.P795fs|AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Frame_Shift_Del_p.P1154fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1144						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				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)			GCTGGGGAAGCCCCCCCATAG	0.517																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(3427-3429)ccfs		KIAA0195							89	76	81					17																	73493881		2203	4300	6503	SO:0001589	frameshift_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73493881delC		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3427delC	17.37:g.73493881delC	ENSP00000313885:p.Pro1144fs					KIAA0195_ENST00000375248.5_Frame_Shift_Del_p.P1154fs|KIAA0195_ENST00000579208.1_Frame_Shift_Del_p.P795fs	p.P1144fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		27	3821	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1144					O75536|Q86XF1	Frame_Shift_Del	DEL	ENST00000314256.7	37	c.3427delC	CCDS32732.1																																																																																				0.517	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		19	90						19	90	---	---	---	---	-	73493881	C	-	73493881	7	5	435	1	0	1	0	1	0	0	0	0	8160	739	26	0	3529	0	KIAA0195	17	73493881	Frame_Shift_Del	DEL	C	TCGA-XK-AAIW-01A-11D-A41K-08	285769	73493881	7701329	7609	28534											
LLGL2	3993	broad.mit.edu	37	chr17	73569164	73569164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctggagggctcaagagtgCggcgggtcagcgtggcccac	6	5	17	13	3	2	1	2	0	0	1	2	2	2	2	2	5	2	1	2	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73569164C>T	ENST00000392550.3	+	20	2647	c.2530C>T	c.(2530-2532)Cgg>Tgg	p.R844W	LLGL2_ENST00000577200.1_Missense_Mutation_p.R844W|LLGL2_ENST00000167462.5_Missense_Mutation_p.R844W	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	844					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.R844W(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTCAAGAGTGCGGCGGGTCAG	0.642																																						ENST00000392550.3																			2	Substitution - Missense(2)	p.R844W(2)	endometrium(2)	NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2530-2532)Cgg>Tgg		lethal giant larvae homolog 2 (Drosophila)							48	42	44					17																	73569164		2203	4300	6503	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73569164C>T	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2530C>T	17.37:g.73569164C>T	ENSP00000376333:p.Arg844Trp					LLGL2_ENST00000167462.5_Missense_Mutation_p.R844W|LLGL2_ENST00000577200.1_Missense_Mutation_p.R844W	p.R844W	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		20	2647	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		844					Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.2530C>T	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	C	6.977	0.550372	0.13374	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.06294	3.32;3.43	4.63	3.65	0.41850	.	0.056427	0.64402	D	0.000001	T	0.26412	0.0645	M	0.81802	2.56	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.96;0.982;0.998;0.998	T	0.07443	-1.0772	10	0.87932	D	0	-0.3776	14.8571	0.70347	0.143:0.857:0.0:0.0	.	471;833;833;844;844	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	W	844;844;833	ENSP00000167462:R844W;ENSP00000376333:R844W	ENSP00000167462:R844W	R	+	1	2	LLGL2	71080759	1.000000	0.71417	0.974000	0.42286	0.127000	0.20565	2.329000	0.43876	1.153000	0.42468	-1.348000	0.01239	CGG		0.642	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		5	14	0	0	0	1	0	5	14					T	73569164	C	T	73569164	3	4	435	1	0	0	0	0	1	0	0	0	8834	759	27	1	2639	1	LLGL2	17	73569164	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	75283	73569164	7626046	7610	28535											
SAP30BP	29115	broad.mit.edu	37	chr17	73695894	73695894	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagagttcggaacatgtcGcctgatgaaatcaagatccc	14	8	10	9	2	1	4	1	2	0	2	4	6	2	5	2	1	1	1	2	1	4	1	rs373834045		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73695894G>A	ENST00000584667.1	+	5	596	c.339G>A	c.(337-339)tcG>tcA	p.S113S	SAP30BP_ENST00000355423.3_Silent_p.S97S|SAP30BP_ENST00000579864.1_3'UTR	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAACATGTCGCCTGATGAAA	0.453																																						ENST00000584667.1																			0				kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17						c.(337-339)tcG>tcA		SAP30 binding protein		G		0,4406		0,0,2203	122	136	131		339	-11.2	0.4	17		131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SAP30BP	NM_013260.6		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		113/309	73695894	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73695894G>A	AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.339G>A	17.37:g.73695894G>A						SAP30BP_ENST00000355423.3_Silent_p.S97S|SAP30BP_ENST00000579864.1_3'UTR	p.S113S	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	596	+	all_cancers(13;6.42e-08)		113						Silent	SNP	ENST00000584667.1	37	c.339G>A	CCDS11726.1																																																																																				0.453	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1	NM_013260		42	78	0	0	0	1	0	42	78					A	73695894	G	A	73695894	2	1	435	1	0	0	0	0	0	0	0	1	13834	1074	38	1		1	SAP30BP	17	73695894	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	126730	73695894	7499316	7611	28536											
ITGB4	3691	broad.mit.edu	37	chr17	73729577	73729577	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agttcctccttcaggagtggCcagacctgcaactgctccac	8	9	9	15	0	1	1	1	0	0	1	4	2	4	2	5	2	3	3	5	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73729577C>T	ENST00000200181.3	+	13	1648	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Silent_p.G487G|ITGB4_ENST00000579662.1_Silent_p.G487G|ITGB4_ENST00000449880.2_Silent_p.G487G|ITGB4_ENST00000450894.3_Silent_p.G487G	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	487	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCAGGAGTGGCCAGACCTGCA	0.547																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(1459-1461)ggC>ggT		integrin, beta 4							35	32	33					17																	73729577		2203	4300	6503	SO:0001819	synonymous_variant	3691				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	g.chr17:73729577C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1461C>T	17.37:g.73729577C>T						ITGB4_ENST00000579662.1_Silent_p.G487G|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Silent_p.G487G|ITGB4_ENST00000339591.3_Silent_p.G487G|ITGB4_ENST00000449880.2_Silent_p.G487G	p.G487G	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	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)		13	1648	+	all_cancers(13;1.5e-07)		487			Cysteine-rich tandem repeats.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.1461C>T	CCDS11727.1																																																																																				0.547	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			7	15	0	0	0	1	0	7	15					T	73729577	C	T	73729577	2	4	435	1	0	0	0	0	0	0	0	1	7897	726	26	3		3	ITGB4	17	73729577	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33683	73729577	7465633	7612	28537											
ITGB4	3691	broad.mit.edu	37	chr17	73729624	73729624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagtgacattcagccctGcctgcgggagggcgaggaca	8	7	15	11	2	2	2	1	2	1	0	2	5	2	4	2	3	3	0	2	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73729624G>A	ENST00000200181.3	+	13	1695	c.1508G>A	c.(1507-1509)tGc>tAc	p.C503Y	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.C503Y|ITGB4_ENST00000579662.1_Missense_Mutation_p.C503Y|ITGB4_ENST00000449880.2_Missense_Mutation_p.C503Y|ITGB4_ENST00000450894.3_Missense_Mutation_p.C503Y	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	503	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATTCAGCCCTGCCTGCGGGAG	0.642																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(1507-1509)tGc>tAc		integrin, beta 4							44	39	41					17																	73729624		2203	4300	6503	SO:0001583	missense	3691				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	g.chr17:73729624G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1508G>A	17.37:g.73729624G>A	ENSP00000200181:p.Cys503Tyr					ITGB4_ENST00000579662.1_Missense_Mutation_p.C503Y|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.C503Y|ITGB4_ENST00000339591.3_Missense_Mutation_p.C503Y|ITGB4_ENST00000449880.2_Missense_Mutation_p.C503Y	p.C503Y	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	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)		13	1695	+	all_cancers(13;1.5e-07)		503			Cysteine-rich tandem repeats.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.1508G>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.352952	0.41700	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.81908	-1.55;-1.51;-1.51	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.94696	0.8289	H	0.98133	4.155	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;0.996;0.996	D;D;D;D;D	0.85130	0.986;0.997;0.957;0.935;0.935	D	0.96970	0.9708	10	0.87932	D	0	.	17.4028	0.87465	0.0:0.0:1.0:0.0	.	463;503;503;503;503	B4E3N0;P16144-5;P16144-3;A0AVL6;P16144	.;.;.;.;ITB4_HUMAN	Y	419;503;503;503	ENSP00000200181:C503Y;ENSP00000344079:C503Y;ENSP00000400217:C503Y	ENSP00000200181:C503Y	C	+	2	0	ITGB4	71241219	1.000000	0.71417	0.982000	0.44146	0.811000	0.45836	8.459000	0.90367	2.202000	0.70862	0.555000	0.69702	TGC		0.642	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			9	24	0	0	0	1	0	9	24					A	73729624	G	A	73729624	3	1	435	1	0	0	0	0	1	0	0	0	7897	1319	46	3	1554	3	ITGB4	17	73729624	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	47	73729624	7465586	7613	28538											
ITGB4	3691	broad.mit.edu	37	chr17	73738694	73738694	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtggagttccaggagggCgtggagctggtggacgtacg	7	8	20	6	3	0	0	0	0	0	0	1	4	1	4	1	7	2	3	1	7	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73738694C>T	ENST00000200181.3	+	25	3001	c.2814C>T	c.(2812-2814)ggC>ggT	p.G938G	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Silent_p.G938G|ITGB4_ENST00000579662.1_Silent_p.G938G|ITGB4_ENST00000449880.2_Silent_p.G938G|ITGB4_ENST00000450894.3_Silent_p.G938G	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	938					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCAGGAGGGCGTGGAGCTGG	0.677																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(2812-2814)ggC>ggT		integrin, beta 4							69	56	60					17																	73738694		2202	4300	6502	SO:0001819	synonymous_variant	3691				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	g.chr17:73738694C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2814C>T	17.37:g.73738694C>T						ITGB4_ENST00000579662.1_Silent_p.G938G|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Silent_p.G938G|ITGB4_ENST00000339591.3_Silent_p.G938G|ITGB4_ENST00000449880.2_Silent_p.G938G	p.G938G	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	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)		25	3001	+	all_cancers(13;1.5e-07)		938					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.2814C>T	CCDS11727.1																																																																																				0.677	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			13	20	0	0	0	1	0	13	20					T	73738694	C	T	73738694	2	4	435	1	0	0	0	0	0	0	0	1	7897	755	27	1		1	ITGB4	17	73738694	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9070	73738694	7456516	7614	28539											
ITGB4	3691	broad.mit.edu	37	chr17	73746878	73746878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actatgagatgaaggtgtgcGcctacggggctcagggcgag	9	7	17	8	3	1	2	1	2	0	1	1	4	1	2	1	4	2	1	1	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73746878G>A	ENST00000200181.3	+	29	3779	c.3592G>A	c.(3592-3594)Gcc>Acc	p.A1198T	ITGB4_ENST00000339591.3_Missense_Mutation_p.A1198T|ITGB4_ENST00000579662.1_Missense_Mutation_p.A1198T|ITGB4_ENST00000449880.2_Missense_Mutation_p.A1198T|ITGB4_ENST00000450894.3_Missense_Mutation_p.A1198T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1198	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.A1198T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAAGGTGTGCGCCTACGGGGC	0.627																																						ENST00000200181.3																			1	Substitution - Missense(1)	p.A1198T(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(3592-3594)Gcc>Acc		integrin, beta 4							97	101	100					17																	73746878		2203	4300	6503	SO:0001583	missense	3691				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	g.chr17:73746878G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3592G>A	17.37:g.73746878G>A	ENSP00000200181:p.Ala1198Thr					ITGB4_ENST00000579662.1_Missense_Mutation_p.A1198T|ITGB4_ENST00000450894.3_Missense_Mutation_p.A1198T|ITGB4_ENST00000339591.3_Missense_Mutation_p.A1198T|ITGB4_ENST00000449880.2_Missense_Mutation_p.A1198T	p.A1198T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	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)		29	3779	+	all_cancers(13;1.5e-07)		1198			Fibronectin type-III 1.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.3592G>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.973846	0.53720	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.67523	-0.27;-0.27;-0.27	5.34	5.34	0.76211	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.202636	0.41500	D	0.000872	D	0.87196	0.6117	H	0.94734	3.575	0.51767	D	0.999936	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74348	0.96;0.944;0.983	D	0.90595	0.4540	10	0.72032	D	0.01	.	19.0364	0.92980	0.0:0.0:1.0:0.0	.	1198;1198;1198	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	T	1198	ENSP00000200181:A1198T;ENSP00000344079:A1198T;ENSP00000400217:A1198T	ENSP00000200181:A1198T	A	+	1	0	ITGB4	71258473	1.000000	0.71417	0.987000	0.45799	0.889000	0.51656	5.736000	0.68597	2.504000	0.84457	0.561000	0.74099	GCC		0.627	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			23	50	0	0	0	1	0	23	50					A	73746878	G	A	73746878	3	1	435	1	0	0	0	0	1	0	0	0	7897	1087	38	1	3702	1	ITGB4	17	73746878	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8184	73746878	7448332	7615	28540											
UNK	85451	broad.mit.edu	37	chr17	73815809	73815809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgagtttggcgtggccGccctggagaagactttcgat	8	11	14	8	3	0	4	0	2	0	2	1	6	0	4	2	3	0	1	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73815809G>A	ENST00000589666.1	+	12	1701	c.1591G>A	c.(1591-1593)Gcc>Acc	p.A531T	UNK_ENST00000293218.3_Missense_Mutation_p.A607T|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	531							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			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)			TGGCGTGGCCGCCCTGGAGAA	0.592																																						ENST00000293218.3																			0				cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1819-1821)Gcc>Acc		unkempt family zinc finger							108	114	112					17																	73815809		2104	4207	6311	SO:0001583	missense	85451						nucleic acid binding|zinc ion binding	g.chr17:73815809G>A	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1591G>A	17.37:g.73815809G>A	ENSP00000464893:p.Ala531Thr					UNK_ENST00000589666.1_Missense_Mutation_p.A531T|RP11-552F3.4_ENST00000586808.1_RNA	p.A607T			Q9C0B0	UNK_HUMAN	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)		13	1819	+			531						Missense_Mutation	SNP	ENST00000589666.1	37	c.1819G>A	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131115	0.77549	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.66	4.66	0.58398	.	0.055256	0.64402	D	0.000001	T	0.57344	0.2047	L	0.55481	1.735	0.80722	D	1	D	0.65815	0.995	P	0.46629	0.522	T	0.54443	-0.8293	9	0.16420	T	0.52	-9.1169	18.1115	0.89537	0.0:0.0:1.0:0.0	.	531	Q9C0B0	UNK_HUMAN	T	607	.	ENSP00000293218:A607T	A	+	1	0	UNK	71327404	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	8.730000	0.91510	2.587000	0.87381	0.655000	0.94253	GCC		0.592	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		22	23	0	0	0	1	0	22	23					A	73815809	G	A	73815809	3	1	435	1	0	0	0	0	1	0	0	0	16997	1087	38	1	1869	1	UNK	17	73815809	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	68931	73815809	7379401	7616	28541											
MRPL38	64978	broad.mit.edu	37	chr17	73897876	73897876	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccacgtgcagggggactcGgggcacaaaggtggcaccgt	8	4	18	11	3	0	0	0	0	0	0	1	1	0	1	2	7	1	3	2	7	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73897876G>A	ENST00000309352.3	-	4	1045	c.508C>T	c.(508-510)Cga>Tga	p.R170*	MRPL38_ENST00000585475.1_5'UTR|MRPL38_ENST00000409963.3_5'UTR|RP11-552F3.10_ENST00000587267.1_RNA	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	170						mitochondrion (GO:0005739)|ribosome (GO:0005840)				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGGGGACTCGGGGCACAAAG	0.607																																						ENST00000309352.3																			0				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5						c.(508-510)Cga>Tga		mitochondrial ribosomal protein L38							82	63	69					17																	73897876		2202	4300	6502	SO:0001587	stop_gained	64978					actin cytoskeleton|mitochondrion|ribosome		g.chr17:73897876G>A	AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"Mitochondrial ribosomal proteins / large subunits"	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.508C>T	17.37:g.73897876G>A	ENSP00000308275:p.Arg170*					MRPL38_ENST00000409963.3_5'UTR|MRPL38_ENST00000585475.1_5'UTR	p.R170*	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)		4	1045	-			170					B3KN96|Q96Q66|Q9P0B9	Nonsense_Mutation	SNP	ENST00000309352.3	37	c.508C>T	CCDS11733.2	.	.	.	.	.	.	.	.	.	.	G	37	6.524280	0.97637	.	.	ENSG00000204316	ENST00000309352	.	.	.	5.43	1.71	0.24356	.	0.389746	0.27236	N	0.020295	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-7.5846	4.9368	0.13944	0.4106:0.0:0.4427:0.1468	.	.	.	.	X	170	.	ENSP00000308275:R170X	R	-	1	2	MRPL38	71409471	0.998000	0.40836	0.903000	0.35520	0.411000	0.31082	0.812000	0.27211	0.552000	0.29026	0.650000	0.86243	CGA		0.607	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	NM_032478		4	19	0	0	0	1	0	4	19					A	73897876	G	A	73897876	4	1	435	1	0	0	0	0	0	1	0	0	9801	1124	39	2	658	2	MRPL38	17	73897876	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	82067	73897876	7297334	7617	28542											
ACOX1	51	broad.mit.edu	37	chr17	73969706	73969706	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctcaatgtggactaacCgtggcccatttccgtctggg	7	10	11	13	2	2	0	1	0	1	0	3	2	3	1	4	3	1	0	4	3	2	2	rs140541455		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73969706C>T	ENST00000301608.4	-	3	490	c.430G>A	c.(430-432)Gga>Aga	p.G144R	ACOX1_ENST00000293217.5_Intron|ACOX1_ENST00000537812.1_Intron|ACOX1_ENST00000591857.1_Intron	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	144					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	GTGGACTAACCGTGGCCCATT	0.493																																						ENST00000301608.4																			0				large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						c.e3+1		acyl-CoA oxidase 1, palmitoyl		C	,,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	81	71	74		,,430	5.1	1	17	dbSNP_134	74	0,8600		0,0,4300	yes	intron,intron,missense-near-splice	ACOX1	NM_001185039.1,NM_004035.6,NM_007292.5	,,125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,,144/661	73969706	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	51				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	g.chr17:73969706C>T	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.430+1G>A	17.37:g.73969706C>T						ACOX1_ENST00000591857.1_Intron|ACOX1_ENST00000537812.1_Intron|ACOX1_ENST00000293217.5_Intron	p.G144_splice	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN			3	490	-			144					A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Splice_Site	SNP	ENST00000301608.4	37	c.430_splice	CCDS11735.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.101654|5.101654	0.94245|0.94245	2.27E-4|2.27E-4	0.0|0.0	ENSG00000161533|ENSG00000161533	ENST00000301608|ENST00000538781	D|.	0.99259|.	-5.64|.	5.06|5.06	5.06|5.06	0.68205|0.68205	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);|.	.|.	.|.	.|.	.|.	D|D	0.89743|0.89743	0.6803|0.6803	H|H	0.99325|0.99325	4.515|4.515	0.40157|0.40157	D|D	0.977017|0.977017	D|D	0.89917|0.65815	1.0|0.995	D|P	0.97110|0.56916	1.0|0.809	D|D	0.94223|0.94223	0.7469|0.7469	8|7	.|.	.|.	.|.	-17.5655|-17.5655	18.9926|18.9926	0.92800|0.92800	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	144|22	Q15067|F5H0M0	ACOX1_HUMAN|.	R|H	144|22	ENSP00000301608:G144R|.	.|.	G|R	-|-	1|2	0|0	ACOX1|ACOX1	71481301|71481301	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.408000|7.408000	0.80041|0.80041	2.784000|2.784000	0.95788|0.95788	0.643000|0.643000	0.83706|0.83706	GGA|CGT		0.493	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1		Missense_Mutation	8	30	0	0	0	1	0	8	30					T	73969706	C	T	73969706	5	4	435	1	0	0	0	0	0	0	1	0	158	666	23	2	1765	2	ACOX1	17	73969706	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	71830	73969706	7225504	7618	28543											
EVPL	2125	broad.mit.edu	37	chr17	74011183	74011183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttccagcagctccctcCgctggcgctgcaggaggagg	5	7	15	14	2	0	0	0	0	0	0	3	2	3	2	3	4	3	7	3	4	0	1	rs561427047		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74011183C>T	ENST00000301607.3	-	17	2289	c.2036G>A	c.(2035-2037)cGg>cAg	p.R679Q	EVPL_ENST00000586740.1_Missense_Mutation_p.R701Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	679	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			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						CAGCTCCCTCCGCTGGCGCTG	0.692																																						ENST00000301607.3																			0				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						c.(2035-2037)cGg>cAg		envoplakin							18	20	19					17																	74011183		2194	4285	6479	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74011183C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2036G>A	17.37:g.74011183C>T	ENSP00000301607:p.Arg679Gln					EVPL_ENST00000586740.1_Missense_Mutation_p.R701Q	p.R679Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			17	2289	-			679			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.2036G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788937	0.31685	.	.	ENSG00000167880	ENST00000301607	T	0.32515	1.45	4.82	4.82	0.62117	.	0.184588	0.44483	D	0.000451	T	0.21718	0.0523	L	0.45137	1.4	0.32825	D	0.503216	B;P	0.36144	0.218;0.539	B;B	0.28305	0.012;0.088	T	0.30238	-0.9985	10	0.40728	T	0.16	-60.5943	9.1333	0.36859	0.0:0.7924:0.0:0.2076	.	701;679	B7ZLH8;Q92817	.;EVPL_HUMAN	Q	679	ENSP00000301607:R679Q	ENSP00000301607:R679Q	R	-	2	0	EVPL	71522778	0.071000	0.21146	0.999000	0.59377	0.358000	0.29455	0.357000	0.20199	2.614000	0.88457	0.561000	0.74099	CGG		0.692	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		15	14	0	0	0	1	0	15	14					T	74011183	C	T	74011183	3	4	435	1	0	0	0	0	1	0	0	0	5292	652	23	2	4089	2	EVPL	17	74011183	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	41477	74011183	7184027	7619	28544											
EVPL	2125	broad.mit.edu	37	chr17	74018511	74018511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccggccccacgaggctccGcagctgctgcccataggcgt	6	6	12	17	4	0	0	0	0	0	0	1	1	1	0	5	3	4	4	5	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74018511G>A	ENST00000301607.3	-	5	842	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	EVPL_ENST00000586740.1_Missense_Mutation_p.R197W	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	197	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			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						ACGAGGCTCCGCAGCTGCTGC	0.672																																						ENST00000301607.3																			0				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						c.(589-591)Cgg>Tgg		envoplakin							54	53	53					17																	74018511		2202	4300	6502	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74018511G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.589C>T	17.37:g.74018511G>A	ENSP00000301607:p.Arg197Trp					EVPL_ENST00000586740.1_Missense_Mutation_p.R197W	p.R197W	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			5	842	-			197			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.589C>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808571	0.31961	.	.	ENSG00000167880	ENST00000301607	T	0.30714	1.52	4.3	2.25	0.28309	.	0.294589	0.31370	N	0.007765	T	0.32645	0.0836	L	0.36672	1.1	0.29709	N	0.839554	D;D	0.76494	0.999;0.999	P;P	0.53689	0.719;0.732	T	0.20874	-1.0262	10	0.87932	D	0	-34.4747	9.1155	0.36755	0.0:0.1228:0.5228:0.3544	.	197;197	B7ZLH8;Q92817	.;EVPL_HUMAN	W	197	ENSP00000301607:R197W	ENSP00000301607:R197W	R	-	1	2	EVPL	71530106	0.986000	0.35501	0.914000	0.36105	0.003000	0.03518	1.836000	0.39191	0.359000	0.24239	-1.131000	0.01979	CGG		0.672	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		5	7	0	0	0	1	0	5	7					A	74018511	G	A	74018511	3	1	435	1	0	0	0	0	1	0	0	0	5292	1086	38	1	5584	1	EVPL	17	74018511	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7328	74018511	7176699	7620	28545											
EVPL	2125	broad.mit.edu	37	chr17	74019483	74019483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acactcctgggtcacccgctCgtgcagctgcttgatgctgt	5	11	11	14	2	1	1	1	1	0	0	3	1	2	1	2	1	4	5	2	1	0	1	rs375730697		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74019483C>T	ENST00000301607.3	-	4	623	c.370G>A	c.(370-372)Gag>Aag	p.E124K	EVPL_ENST00000586740.1_Missense_Mutation_p.E124K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	124	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			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						GTCACCCGCTCGTGCAGCTGC	0.677																																						ENST00000301607.3																			0				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						c.(370-372)Gag>Aag		envoplakin		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	64	69	67		370	3.7	1	17		67	0,8598		0,0,4299	no	missense	EVPL	NM_001988.2	56	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	124/2034	74019483	1,13003	2203	4299	6502	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74019483C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.370G>A	17.37:g.74019483C>T	ENSP00000301607:p.Glu124Lys					EVPL_ENST00000586740.1_Missense_Mutation_p.E124K	p.E124K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			4	623	-			124			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.370G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998991	0.74818	2.27E-4	0.0	ENSG00000167880	ENST00000301607	T	0.18960	2.18	4.66	3.68	0.42216	.	0.248311	0.38778	N	0.001571	T	0.19525	0.0469	L	0.52905	1.665	0.48571	D	0.999674	P;B	0.41498	0.752;0.32	B;B	0.31495	0.131;0.036	T	0.08046	-1.0741	10	0.72032	D	0.01	-33.2038	15.1453	0.72647	0.0:0.8581:0.1419:0.0	.	124;124	B7ZLH8;Q92817	.;EVPL_HUMAN	K	124	ENSP00000301607:E124K	ENSP00000301607:E124K	E	-	1	0	EVPL	71531078	0.998000	0.40836	0.996000	0.52242	0.998000	0.95712	3.948000	0.56660	1.070000	0.40811	0.561000	0.74099	GAG		0.677	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		30	27	0	0	0	1	0	30	27					T	74019483	C	T	74019483	3	4	435	1	0	0	0	0	1	0	0	0	5292	893	31	2	5807	2	EVPL	17	74019483	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	972	74019483	7175727	7621	28546											
EVPL	2125	broad.mit.edu	37	chr17	74019736	74019736	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcactgttcagccggtcCtgtgggcaggagatgggcag	6	9	16	10	1	2	1	2	0	0	1	3	2	3	1	2	4	2	4	2	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74019736C>A	ENST00000301607.3	-	3	452		c.e3-1		EVPL_ENST00000586740.1_Splice_Site	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin						epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			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						TCAGCCGGTCCTGTGGGCAGG	0.667																																						ENST00000301607.3																			0				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						c.e3-1		envoplakin							13	15	14					17																	74019736		2179	4274	6453	SO:0001630	splice_region_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74019736C>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.199-1G>T	17.37:g.74019736C>A						EVPL_ENST00000586740.1_Splice_Site		NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			3	452	-								A0AUV5	Splice_Site	SNP	ENST00000301607.3	37		CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745284	0.69418	.	.	ENSG00000167880	ENST00000301607	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6482	0.68777	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EVPL	71531331	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.738000	0.68613	2.293000	0.77203	0.561000	0.74099	.		0.667	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	Intron	5	3	1	0	0.184627	1	0.185007	5	3					A	74019736	C	A	74019736	5	1	435	1	0	0	0	0	0	0	1	0	5292	695	24	5	5983	5	EVPL	17	74019736	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	253	74019736	7175474	7622	28547											
ZACN	353174	broad.mit.edu	37	chr17	74077421	74077421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgtcaagagggaatacGtagtttatgatctgaagacc	13	11	12	5	1	2	5	1	3	1	2	2	6	2	6	1	1	1	2	1	1	6	4	rs143316623	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74077421G>A	ENST00000334586.5	+	6	690	c.607G>A	c.(607-609)Gta>Ata	p.V203I	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	203					ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GAGGGAATACGTAGTTTATGA	0.562													G|||	10	0.00199681	0.0076	0	5008	,	,		18766	0		0	False		,,,				2504	0					ENST00000334586.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(607-609)Gta>Ata		zinc activated ligand-gated ion channel		G	,,,,,ILE/VAL	15,4391	22.3+/-47.3	0,15,2188	183	176	178		,,,,,607	2.6	0	17	dbSNP_134	178	1,8599		0,1,4299	yes	utr-3,utr-3,utr-3,utr-3,utr-3,missense	EXOC7,ZACN	NM_001013839.2,NM_001145297.2,NM_001145298.2,NM_001145299.2,NM_015219.3,NM_180990.3	,,,,,29	0,16,6487	AA,AG,GG		0.0116,0.3404,0.123	,,,,,possibly-damaging	,,,,,203/413	74077421	16,12990	2203	4300	6503	SO:0001583	missense	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74077421G>A	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"Ligand-gated ion channels / Zinc activated channels"	29504	protein-coding gene	gene with protein product		610935	"ligand-gated ion channel, zinc activated 1"	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.607G>A	17.37:g.74077421G>A	ENSP00000334854:p.Val203Ile					EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR	p.V203I	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN			6	690	+			203					Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	c.607G>A	CCDS11740.2	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056102	0.55325	0.003404	1.16E-4	ENSG00000186919	ENST00000334586	T	0.77750	-1.12	4.73	2.6	0.31112	Neurotransmitter-gated ion-channel ligand-binding (2);	0.340242	0.24465	N	0.038296	T	0.68869	0.3048	M	0.63428	1.95	0.09310	N	0.999996	P	0.44627	0.839	B	0.39935	0.314	T	0.64711	-0.6343	10	0.59425	D	0.04	-17.6667	3.7632	0.08611	0.2295:0.207:0.5636:0.0	.	203	Q401N2	ZACN_HUMAN	I	203	ENSP00000334854:V203I	ENSP00000334854:V203I	V	+	1	0	ZACN	71589016	0.000000	0.05858	0.002000	0.10522	0.852000	0.48524	0.386000	0.20702	1.215000	0.43411	0.561000	0.74099	GTA		0.562	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		46	81	0	0	0	1	0	46	81					A	74077421	G	A	74077421	3	1	435	1	0	0	0	0	1	0	0	0	17507	1145	40	1	629	1	ZACN	17	74077421	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	57685	74077421	7117789	7623	28548											
ZACN	353174	broad.mit.edu	37	chr17	74077646	74077646	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggctgaagaacacggcGctcaagtccatcatcgctct	10	8	10	13	3	3	3	2	2	1	1	5	3	4	3	1	2	1	3	1	2	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74077646G>A	ENST00000334586.5	+	7	773	c.690G>A	c.(688-690)gcG>gcA	p.A230A	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	230	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						AGAACACGGCGCTCAAGTCCA	0.667																																						ENST00000334586.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(688-690)gcG>gcA		zinc activated ligand-gated ion channel							97	92	94					17																	74077646		2203	4300	6503	SO:0001819	synonymous_variant	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74077646G>A	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"Ligand-gated ion channels / Zinc activated channels"	29504	protein-coding gene	gene with protein product		610935	"ligand-gated ion channel, zinc activated 1"	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.690G>A	17.37:g.74077646G>A						EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR	p.A230A	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN			7	773	+			230			Leu-rich.		Q2TB29|Q6ZWK3|Q86YW4	Silent	SNP	ENST00000334586.5	37	c.690G>A	CCDS11740.2																																																																																				0.667	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		43	70	0	0	0	1	0	43	70					A	74077646	G	A	74077646	2	1	435	1	0	0	0	0	0	0	0	1	17507	1074	38	1		1	ZACN	17	74077646	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	225	74077646	7117564	7624	28549											
EXOC7	23265	broad.mit.edu	37	chr17	74087307	74087307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagaaggttctgagccttaCggatcgtccctgtcaccaga	9	10	10	12	2	3	3	2	1	1	2	5	4	4	4	3	2	2	1	3	2	2	2	rs377387637		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74087307C>T	ENST00000335146.7	-	7	871	c.818G>A	c.(817-819)cGt>cAt	p.R273H	EXOC7_ENST00000405575.4_Missense_Mutation_p.R273H|EXOC7_ENST00000607838.1_Missense_Mutation_p.R273H|EXOC7_ENST00000467929.2_Missense_Mutation_p.R232H|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000411744.2_Intron|EXOC7_ENST00000589210.1_Missense_Mutation_p.R273H			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	273					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CTGAGCCTTACGGATCGTCCC	0.537																																						ENST00000607838.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(817-819)cGt>cAt		exocyst complex component 7		C	HIS/ARG,HIS/ARG,,HIS/ARG,	0,4406		0,0,2203	160	134	143		818,818,,818,	4.8	1	17		143	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,missense,intron	EXOC7	NM_001013839.2,NM_001145297.2,NM_001145298.2,NM_001145299.2,NM_015219.3	29,29,,29,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,,possibly-damaging,	273/685,273/736,,273/708,	74087307	1,13005	2203	4300	6503	SO:0001583	missense	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74087307C>T	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.818G>A	17.37:g.74087307C>T	ENSP00000334100:p.Arg273His					EXOC7_ENST00000335146.7_Missense_Mutation_p.R273H|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000411744.2_Intron|EXOC7_ENST00000467929.2_Missense_Mutation_p.R232H|EXOC7_ENST00000405575.4_Missense_Mutation_p.R273H|EXOC7_ENST00000589210.1_Missense_Mutation_p.R273H	p.R273H	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		7	912	-			273					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	c.818G>A	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360983	0.61403	0.0	1.16E-4	ENSG00000182473	ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372	.	.	.	5.81	4.85	0.62838	Cullin repeat-like-containing domain (1);	0.056395	0.64402	D	0.000001	T	0.62974	0.2472	L	0.32530	0.975	0.80722	D	1	B;B;D;D;P	0.71674	0.006;0.097;0.994;0.998;0.862	B;B;P;P;B	0.61592	0.013;0.012;0.784;0.891;0.309	T	0.62803	-0.6777	9	0.39692	T	0.17	-9.6376	14.8603	0.70376	0.0:0.9312:0.0:0.0688	.	273;232;232;273;273	Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-1	.;.;.;EXOC7_HUMAN;.	H	273;273;273;232	.	ENSP00000334100:R273H	R	-	2	0	EXOC7	71598902	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	7.298000	0.78815	1.461000	0.47929	-0.136000	0.14681	CGT		0.537	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		34	55	0	0	0	1	0	34	55					T	74087307	C	T	74087307	3	4	435	1	0	0	0	0	1	0	0	0	5310	536	19	1	1445	1	EXOC7	17	74087307	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9661	74087307	7107903	7625	28550											
QRICH2	84074	broad.mit.edu	37	chr17	74286133	74286133	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggtcttcagctgctcctgCagttcaggaggtatggtcct	6	12	12	11	1	3	0	2	0	1	0	5	1	5	1	2	4	3	5	2	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74286133C>T	ENST00000262765.5	-	5	3419	c.3240G>A	c.(3238-3240)ctG>ctA	p.L1080L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1080										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GCTGCTCCTGCAGTTCAGGAG	0.453																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(3238-3240)ctG>ctA		glutamine rich 2							124	139	134					17																	74286133		2203	4300	6503	SO:0001819	synonymous_variant	84074						protein binding	g.chr17:74286133C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3240G>A	17.37:g.74286133C>T							p.L1080L	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			5	3419	-			1080					A2RRE1|Q96LM3	Silent	SNP	ENST00000262765.5	37	c.3240G>A	CCDS32741.1																																																																																				0.453	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		46	80	0	0	0	1	0	46	80					T	74286133	C	T	74286133	2	4	435	1	0	0	0	0	0	0	0	1	12880	697	25	3		3	QRICH2	17	74286133	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	198826	74286133	6909077	7626	28551											
QRICH2	84074	broad.mit.edu	37	chr17	74288562	74288562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggtgggaccaaaccaCgctgatgatctgcacgaggt	11	6	12	12	2	1	2	0	2	1	0	1	4	1	3	3	3	2	2	3	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74288562C>T	ENST00000262765.5	-	4	1927	c.1748G>A	c.(1747-1749)cGt>cAt	p.R583H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	583	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GACCAAACCACGCTGATGATC	0.537																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(1747-1749)cGt>cAt		glutamine rich 2							160	142	148					17																	74288562		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74288562C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1748G>A	17.37:g.74288562C>T	ENSP00000262765:p.Arg583His						p.R583H	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	1927	-			583			Gln-rich.		A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.1748G>A	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238416	0.22711	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08458	3.09	4.5	-8.52	0.00920	.	.	.	.	.	T	0.04815	0.0130	L	0.40543	1.245	0.09310	N	1	B;B	0.15473	0.013;0.011	B;B	0.09377	0.002;0.004	T	0.40403	-0.9565	9	0.15066	T	0.55	0.2272	5.2482	0.15508	0.1397:0.4114:0.3486:0.1003	.	583;583	B5MD94;Q9H0J4	.;QRIC2_HUMAN	H	583	ENSP00000262765:R583H	ENSP00000262765:R583H	R	-	2	0	QRICH2	71800157	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-4.590000	0.00211	-1.818000	0.01218	-2.294000	0.00264	CGT		0.537	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		14	62	0	0	0	1	0	14	62					T	74288562	C	T	74288562	3	4	435	1	0	0	0	0	1	0	0	0	12880	536	19	1	3307	1	QRICH2	17	74288562	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2429	74288562	6906648	7627	28552											
QRICH2	84074	broad.mit.edu	37	chr17	74288956	74288956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaggccagaccaaaccacGctgatctgcaccaggttggg	10	6	11	14	1	1	2	0	1	1	1	2	2	2	2	5	3	2	3	5	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74288956G>A	ENST00000262765.5	-	4	1533	c.1354C>T	c.(1354-1356)Cgt>Tgt	p.R452C		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	452	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						accaaaccacgctgatctgca	0.552																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(1354-1356)Cgt>Tgt		glutamine rich 2							94	93	93					17																	74288956		2184	4300	6484	SO:0001583	missense	84074						protein binding	g.chr17:74288956G>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1354C>T	17.37:g.74288956G>A	ENSP00000262765:p.Arg452Cys						p.R452C	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	1533	-			452			Gln-rich.		A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.1354C>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	G	9.250	1.040547	0.19669	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08807	3.05	5.26	1.9	0.25705	.	.	.	.	.	T	0.08044	0.0201	N	0.22421	0.69	0.09310	N	1	D;P	0.69078	0.997;0.923	P;B	0.50708	0.648;0.436	T	0.28650	-1.0037	9	0.45353	T	0.12	1.9031	4.5211	0.11959	0.0838:0.3387:0.4398:0.1377	.	452;452	B5MD94;Q9H0J4	.;QRIC2_HUMAN	C	452	ENSP00000262765:R452C	ENSP00000262765:R452C	R	-	1	0	QRICH2	71800551	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.490000	0.06482	0.514000	0.28300	0.512000	0.50108	CGT		0.552	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		17	28	0	0	0	1	0	17	28					A	74288956	G	A	74288956	3	1	435	1	0	0	0	0	1	0	0	0	12880	1087	38	1	3701	1	QRICH2	17	74288956	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	394	74288956	6906254	7628	28553											
QRICH2	84074	broad.mit.edu	37	chr17	74289739	74289739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaactggaccaggacgtgCatttcttcttggttgtgtcg	6	15	12	8	2	2	1	0	1	2	0	3	3	2	3	1	3	2	2	1	3	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74289739C>T	ENST00000262765.5	-	4	750	c.571G>A	c.(571-573)Gca>Aca	p.A191T		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	191										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCAGGACGTGCATTTCTTCTT	0.522																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(571-573)Gca>Aca		glutamine rich 2							136	105	116					17																	74289739		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74289739C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.571G>A	17.37:g.74289739C>T	ENSP00000262765:p.Ala191Thr						p.A191T	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	750	-			191					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.571G>A	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	8.992	0.978051	0.18812	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.09723	2.95	2.45	2.45	0.29901	.	.	.	.	.	T	0.09642	0.0237	L	0.47190	1.495	0.09310	N	1	P;B	0.40332	0.713;0.297	B;B	0.36464	0.225;0.135	T	0.18304	-1.0341	9	0.34782	T	0.22	0.1624	8.5201	0.33270	0.0:1.0:0.0:0.0	.	191;191	B5MD94;Q9H0J4	.;QRIC2_HUMAN	T	191	ENSP00000262765:A191T	ENSP00000262765:A191T	A	-	1	0	QRICH2	71801334	0.002000	0.14202	0.008000	0.14137	0.002000	0.02628	0.822000	0.27352	1.701000	0.51217	0.563000	0.77884	GCA		0.522	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		17	29	0	0	0	1	0	17	29					T	74289739	C	T	74289739	3	4	435	1	0	0	0	0	1	0	0	0	12880	710	25	3	4484	3	QRICH2	17	74289739	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	783	74289739	6905471	7629	28554											
SPHK1	8877	broad.mit.edu	37	chr17	74382513	74382513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggcctgactgggagaccGccatccagaagcccctgtgt	8	6	13	14	2	0	3	0	1	0	2	1	4	1	3	6	2	2	0	6	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74382513G>A	ENST00000545180.1	+	7	1107	c.298G>A	c.(298-300)Gcc>Acc	p.A100T	SPHK1_ENST00000323374.4_Missense_Mutation_p.A186T|SPHK1_ENST00000392496.3_Missense_Mutation_p.A100T|SPHK1_ENST00000590959.1_Missense_Mutation_p.A114T|SPHK1_ENST00000592299.1_Missense_Mutation_p.A100T			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	100	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	CTGGGAGACCGCCATCCAGAA	0.657											OREG0024750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(90;966 1307 27369 33775 44498)	ENST00000545180.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						c.(298-300)Gcc>Acc		sphingosine kinase 1							50	52	51					17																	74382513		2203	4300	6503	SO:0001583	missense	8877				'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	g.chr17:74382513G>A	BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.298G>A	17.37:g.74382513G>A	ENSP00000440970:p.Ala100Thr		OREG0024750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1152	SPHK1_ENST00000323374.4_Missense_Mutation_p.A186T|SPHK1_ENST00000590959.1_Missense_Mutation_p.A114T|SPHK1_ENST00000592299.1_Missense_Mutation_p.A100T|SPHK1_ENST00000392496.3_Missense_Mutation_p.A100T	p.A100T			Q9NYA1	SPHK1_HUMAN			7	1107	+			100			DAGKc.		Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Missense_Mutation	SNP	ENST00000545180.1	37	c.298G>A	CCDS45785.1	.	.	.	.	.	.	.	.	.	.	G	34	5.374898	0.95923	.	.	ENSG00000176170	ENST00000545180;ENST00000323374;ENST00000392496;ENST00000543830	T;T;T	0.32988	1.53;1.43;1.53	5.29	5.29	0.74685	Diacylglycerol kinase, catalytic domain (3);	0.176656	0.49916	D	0.000136	T	0.62551	0.2437	M	0.87547	2.89	0.80722	D	1	D;D;D	0.76494	0.982;0.998;0.999	P;D;D	0.71184	0.796;0.972;0.971	T	0.69712	-0.5071	10	0.72032	D	0.01	-18.125	18.9407	0.92604	0.0:0.0:1.0:0.0	.	186;114;100	Q9NYA1-2;Q96GK1;Q9NYA1	.;.;SPHK1_HUMAN	T	100;186;100;99	ENSP00000440970:A100T;ENSP00000313681:A186T;ENSP00000376285:A100T	ENSP00000313681:A186T	A	+	1	0	SPHK1	71894108	1.000000	0.71417	0.982000	0.44146	0.412000	0.31113	7.600000	0.82769	2.460000	0.83146	0.563000	0.77884	GCC		0.657	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450113.1	NM_182965, NM_021972		18	22	0	0	0	1	0	18	22					A	74382513	G	A	74382513	3	1	435	1	0	0	0	0	1	0	0	0	15045	1087	38	1	616	1	SPHK1	17	74382513	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	92774	74382513	6812697	7630	28555											
UBE2O	63893	broad.mit.edu	37	chr17	74387399	74387399	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacagctgggggctctggCgagctgctggccttgggcac	4	8	17	12	1	1	0	0	0	1	0	1	1	1	0	1	5	4	6	1	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74387399C>T	ENST00000319380.7	-	18	3568	c.3504G>A	c.(3502-3504)tcG>tcA	p.S1168S		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1168					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			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						GGGGCTCTGGCGAGCTGCTGG	0.667																																						ENST00000319380.7																			0				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						c.(3502-3504)tcG>tcA		ubiquitin-conjugating enzyme E2O							25	28	27					17																	74387399		2203	4296	6499	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74387399C>T	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.3504G>A	17.37:g.74387399C>T							p.S1168S	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN			18	3568	-			1168					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.3504G>A	CCDS32742.1																																																																																				0.667	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		17	22	0	0	0	1	0	17	22					T	74387399	C	T	74387399	2	4	435	1	0	0	0	0	0	0	0	1	16865	755	27	1		1	UBE2O	17	74387399	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4886	74387399	6807811	7631	28556											
ST6GALNAC2	10610	broad.mit.edu	37	chr17	74570475	74570475	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagcccccgccagccataCggggctttgtgttggctcag	6	8	14	13	2	1	1	1	0	0	1	1	2	1	1	4	3	3	3	4	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74570475C>T	ENST00000225276.5	-	3	652	c.333G>A	c.(331-333)ccG>ccA	p.P111P	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	111					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GCCAGCCATACGGGGCTTTGT	0.627																																						ENST00000225276.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						c.(331-333)ccG>ccA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2							36	34	34					17																	74570475		2203	4300	6503	SO:0001819	synonymous_variant	10610				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr17:74570475C>T	U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"Sialyltransferases"	10867	protein-coding gene	gene with protein product		610137	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)", "sialyltransferase-like 1"	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.333G>A	17.37:g.74570475C>T						ST6GALNAC2_ENST00000586520.1_5'UTR	p.P111P	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN			3	652	-			111					Q12971	Silent	SNP	ENST00000225276.5	37	c.333G>A	CCDS11747.1																																																																																				0.627	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456		5	10	0	0	0	1	0	5	10					T	74570475	C	T	74570475	2	4	435	1	0	0	0	0	0	0	0	1	15223	523	19	1		1	ST6GALNAC2	17	74570475	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	183076	74570475	6624735	7632	28557											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74625190	74625190	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagtctttggtttctctgCgtcgtggggctctggaaagg	4	15	14	8	2	4	0	1	0	3	0	6	1	4	1	0	5	1	2	0	5	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74625190C>T	ENST00000156626.7	-	2	934	c.735G>A	c.(733-735)acG>acA	p.T245T	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	245					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GGTTTCTCTGCGTCGTGGGGC	0.542																																						ENST00000156626.7																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(733-735)acG>acA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							47	51	50					17																	74625190		2203	4300	6503	SO:0001819	synonymous_variant	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74625190C>T	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.735G>A	17.37:g.74625190C>T						ST6GALNAC1_ENST00000590878.1_5'UTR	p.T245T	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN			2	934	-			245					Q6UW90|Q9NSC6	Silent	SNP	ENST00000156626.7	37	c.735G>A	CCDS11748.1																																																																																				0.542	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		24	44	0	0	0	1	0	24	44					T	74625190	C	T	74625190	2	4	435	1	0	0	0	0	0	0	0	1	15222	755	27	1		1	ST6GALNAC1	17	74625190	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	54715	74625190	6570020	7633	28558											
C17orf95	124512	broad.mit.edu	37	chr17	74729657	74729657	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatatgaaatgtgtccaCattcctcttgagtcttttga	9	16	9	7	0	2	3	0	3	2	0	4	4	4	4	2	1	0	0	2	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74729657C>T	ENST00000341249.6	+	5	794	c.462C>T	c.(460-462)caC>caT	p.H154H	METTL23_ENST00000586738.1_3'UTR|RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000588783.1_3'UTR|METTL23_ENST00000591571.1_3'UTR|METTL23_ENST00000586200.1_Silent_p.H35H|MFSD11_ENST00000586622.1_5'Flank|MIR636_ENST00000384825.1_RNA|METTL23_ENST00000590964.1_Silent_p.H87H|METTL23_ENST00000588822.1_Silent_p.H87H|METTL23_ENST00000588302.1_3'UTR|METTL23_ENST00000586752.1_Silent_p.H87H|MFSD11_ENST00000588460.1_5'Flank	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	154						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	methyltransferase activity (GO:0008168)			large_intestine(2)|lung(1)	3						AATGTGTCCACATTCCTCTTG	0.368																																						ENST00000341249.6																			0				large_intestine(2)|lung(1)	3						c.(460-462)caC>caT		methyltransferase like 23							201	202	202					17																	74729657		1878	4094	5972	SO:0001819	synonymous_variant	124512					integral to membrane	methyltransferase activity	g.chr17:74729657C>T		CCDS45787.1, CCDS59298.1	17q25.2	2011-03-03	2011-03-03	2011-03-03	ENSG00000181038	ENSG00000181038			26988	protein-coding gene	gene with protein product		615262	"chromosome 17 open reading frame 95"	C17orf95		12477932	Standard	NM_001080510		Approved	LOC124512	uc021udl.1	Q86XA0		ENST00000341249.6:c.462C>T	17.37:g.74729657C>T						METTL23_ENST00000588302.1_3'UTR|RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000591571.1_3'UTR|METTL23_ENST00000586752.1_Silent_p.H87H|METTL23_ENST00000586738.1_3'UTR|METTL23_ENST00000590964.1_Silent_p.H87H|METTL23_ENST00000586200.1_Silent_p.H35H|METTL23_ENST00000588783.1_3'UTR|METTL23_ENST00000588822.1_Silent_p.H87H	p.H154H	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN			5	794	+			154					H9ZYJ0|K7EK32	Silent	SNP	ENST00000341249.6	37	c.462C>T	CCDS45787.1																																																																																				0.368	METTL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451002.1	NM_001080510		41	90	0	0	0	1	0	41	90					T	74729657	C	T	74729657	2	4	435	1	0	0	0	0	0	0	0	1	1892	477	17	3		3	C17orf95	17	74729657	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	104467	74729657	6465553	7634	28559											
SEC14L1	6397	broad.mit.edu	37	chr17	75208225	75208225	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agacaaagtctggcagctggGccgcgactacagcatggtgg	10	6	15	10	2	1	1	0	0	1	1	1	2	1	1	1	4	3	3	1	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:75208225G>C	ENST00000413679.2	+	15	2108	c.1805G>C	c.(1804-1806)gGc>gCc	p.G602A	SEC14L1_ENST00000585618.1_Missense_Mutation_p.G602A|SEC14L1_ENST00000430767.4_Missense_Mutation_p.G602A|SEC14L1_ENST00000436233.4_Missense_Mutation_p.G602A|SEC14L1_ENST00000591437.1_Missense_Mutation_p.G568A|SEC14L1_ENST00000392476.2_Missense_Mutation_p.G602A|SEC14L1_ENST00000431431.2_Missense_Mutation_p.G568A|SEC14L1_ENST00000443798.4_Missense_Mutation_p.G602A	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	602	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGGCAGCTGGGCCGCGACTAC	0.562																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1804-1806)gGc>gCc		SEC14-like 1 (S. cerevisiae)							116	128	124					17																	75208225		2203	4300	6503	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75208225G>C	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1805G>C	17.37:g.75208225G>C	ENSP00000394716:p.Gly602Ala					SEC14L1_ENST00000443798.4_Missense_Mutation_p.G602A|SEC14L1_ENST00000591437.1_Missense_Mutation_p.G568A|SEC14L1_ENST00000585618.1_Missense_Mutation_p.G602A|SEC14L1_ENST00000392476.2_Missense_Mutation_p.G602A|SEC14L1_ENST00000430767.4_Missense_Mutation_p.G602A|SEC14L1_ENST00000431431.2_Missense_Mutation_p.G568A|SEC14L1_ENST00000436233.4_Missense_Mutation_p.G602A	p.G602A	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			15	2108	+			602			GOLD.		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.1805G>C	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025613	0.93518	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	5.19	5.19	0.71726	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.976	T	0.72431	-0.4296	10	0.87932	D	0	-46.3299	18.055	0.89362	0.0:0.0:1.0:0.0	.	602;602	Q92503-2;Q92503	.;S14L1_HUMAN	A	602;602;602;602;602;568	ENSP00000376268:G602A;ENSP00000406030:G602A;ENSP00000390392:G602A;ENSP00000408169:G602A;ENSP00000394716:G602A;ENSP00000389838:G568A	ENSP00000376268:G602A	G	+	2	0	SEC14L1	72719820	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.333000	0.96459	2.570000	0.86706	0.655000	0.94253	GGC		0.562	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		30	108	0	0	0	1	0	30	108					C	75208225	G	C	75208225	3	2	435	1	0	0	0	0	1	0	0	0	13981	1203	42	5	1855	5	SEC14L1	17	75208225	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	478568	75208225	5986985	7635	28560											
TMC6	11322	broad.mit.edu	37	chr17	76113374	76113374	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgatctgctccttgagcagGcagatgaccttgcgctggcc	6	10	12	13	1	1	4	0	3	1	1	2	4	2	4	3	2	3	4	3	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:76113374G>A	ENST00000590602.1	-	18	2412	c.2253C>T	c.(2251-2253)tgC>tgT	p.C751C	TMC6_ENST00000392467.3_Silent_p.C751C|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322914.3_Silent_p.C751C|TMC6_ENST00000591436.1_Silent_p.C330C|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Silent_p.C330C			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	751					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCTTGAGCAGGCAGATGACCT	0.682																																						ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(2251-2253)tgC>tgT		transmembrane channel-like 6							69	72	71					17																	76113374		2203	4300	6503	SO:0001819	synonymous_variant	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76113374G>A	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.2253C>T	17.37:g.76113374G>A						TMC6_ENST00000306591.7_Intron|TMC6_ENST00000591436.1_Silent_p.C330C|TMC6_ENST00000322914.3_Silent_p.C751C|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000392467.3_Silent_p.C751C|TMC6_ENST00000322933.4_Silent_p.C330C	p.C751C			Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		18	2412	-			751					O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	ENST00000590602.1	37	c.2253C>T	CCDS32748.1																																																																																				0.682	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			22	28	0	0	0	1	0	22	28					A	76113374	G	A	76113374	2	1	435	1	0	0	0	0	0	0	0	1	15986	1195	42	3		3	TMC6	17	76113374	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	905149	76113374	5081836	7636	28561											
TMC6	11322	broad.mit.edu	37	chr17	76120763	76120763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaggaagtaggagagcaCgctggagccgaactggcccc	13	3	15	10	2	0	2	0	0	0	2	0	6	0	4	3	4	3	3	3	4	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:76120763C>T	ENST00000590602.1	-	8	892	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	TMC6_ENST00000392467.3_Missense_Mutation_p.V245M|TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000322914.3_Missense_Mutation_p.V245M|TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000589553.1_Missense_Mutation_p.V18M|TMC6_ENST00000306591.7_Missense_Mutation_p.V245M|TMC6_ENST00000322933.4_De_novo_Start_InFrame			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	245					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TAGGAGAGCACGCTGGAGCCG	0.662																																						ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(733-735)Gtg>Atg		transmembrane channel-like 6							19	17	18					17																	76120763		2173	4235	6408	SO:0001583	missense	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76120763C>T	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.733G>A	17.37:g.76120763C>T	ENSP00000465261:p.Val245Met					TMC6_ENST00000306591.7_Missense_Mutation_p.V245M|TMC6_ENST00000322914.3_Missense_Mutation_p.V245M|TMC6_ENST00000589553.1_Missense_Mutation_p.V18M|TMC6_ENST00000392467.3_Missense_Mutation_p.V245M|TMC6_ENST00000322933.4_De_novo_Start_InFrame	p.V245M			Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		8	892	-			245					O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.733G>A	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967833	0.74131	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	T;T;T	0.67865	-0.29;-0.29;-0.29	3.28	3.28	0.37604	.	0.077275	0.50627	D	0.000107	T	0.82001	0.4942	M	0.90019	3.08	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.989;0.997;0.997;0.981	D	0.83699	0.0181	10	0.87932	D	0	-27.0781	8.2404	0.31656	0.0:0.8774:0.0:0.1226	.	82;245;18;245	B4E003;Q7Z403-2;Q7Z403-4;Q7Z403	.;.;.;TMC6_HUMAN	M	245	ENSP00000313408:V245M;ENSP00000376260:V245M;ENSP00000306405:V245M	ENSP00000306405:V245M	V	-	1	0	TMC6	73632358	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.957000	0.56730	1.661000	0.50771	0.462000	0.41574	GTG		0.662	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			4	9	0	0	0	1	0	4	9					T	76120763	C	T	76120763	3	4	435	1	0	0	0	0	1	0	0	0	15986	536	19	1	1736	1	TMC6	17	76120763	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7389	76120763	5074447	7637	28562											
DNAH17	9489	broad.mit.edu	37	chr17	76422601	76422601	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcatggaggggtaggcccgGgccacccacgtatcaggcac	9	5	14	13	2	2	0	2	0	0	0	2	1	2	1	3	6	0	3	3	6	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:76422601G>A	ENST00000262764.6	+	0	2201				AC061992.1_ENST00000600087.1_Missense_Mutation_p.G65S|DNAH17_ENST00000389840.5_Silent_p.A4307A|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.A4279A	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GGTAGGCCCGGGCCACCCACG	0.597																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000600087.1																			0											c.(193-195)Ggc>Agc									60	63	62					17																	76422601		2203	4300	6503	SO:0001628	intergenic_variant	0							g.chr17:76422601G>A		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8			17.37:g.76422601G>A						DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.A4279A|DNAH17_ENST00000389840.5_Silent_p.A4307A	p.G65S							1	193	+								B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.193G>A	CCDS42391.1																																																																																				0.597	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		10	26	0	0	0	1	0	10	26					A	76422601	G	A	76422601	1	1	435	0	1	0	0	0	0	0	0	0	4601	1219	43	3		3	DNAH17	17	76422601	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	301838	76422601	4772609	7638	28563											
DNAH17	8632	broad.mit.edu	37	chr17	76464776	76464776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatgccaagggacttgaCttggggtcgcatggaggaga	10	9	15	7	1	1	2	1	1	0	1	2	5	1	4	1	5	1	1	1	5	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:76464776C>T	ENST00000585328.1	-	55	8810	c.8686G>A	c.(8686-8688)Gtc>Atc	p.V2896I	DNAH17_ENST00000389840.5_Missense_Mutation_p.V2887I|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2887	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)			AGGGACTTGACTTGGGGTCGC	0.542																																						ENST00000389840.5																			0				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						c.(8659-8661)Gtc>Atc		dynein, axonemal, heavy chain 17							76	78	77					17																	76464776		1999	4178	6177	SO:0001583	missense	8632							g.chr17:76464776C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8686G>A	17.37:g.76464776C>T	ENSP00000465516:p.Val2896Ile					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.V2896I	p.V2887I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		55	8783	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.8659G>A		.	.	.	.	.	.	.	.	.	.	C	16.92	3.254831	0.59212	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.53857	0.6	4.84	4.84	0.62591	.	.	.	.	.	T	0.69169	0.3081	M	0.81179	2.53	0.33302	D	0.564901	.	.	.	.	.	.	T	0.80353	-0.1418	7	0.72032	D	0.01	.	14.4792	0.67567	0.1473:0.8527:0.0:0.0	.	.	.	.	I	2896;2887	ENSP00000374490:V2887I	ENSP00000300671:V2896I	V	-	1	0	DNAH17	73976371	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	4.770000	0.62309	2.246000	0.74042	0.650000	0.86243	GTC		0.542	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		16	30	0	0	0	1	0	16	30					T	76464776	C	T	76464776	3	4	435	1	0	0	0	0	1	0	0	0	4601	565	20	3	4795	3	DNAH17	17	76464776	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	42175	76464776	4730434	7639	28564											
DNAH17	8632	broad.mit.edu	37	chr17	76471508	76471508	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggggagactccaggatgCgattaatcctgcagatgtga	10	8	13	10	2	0	3	0	1	0	2	2	6	2	4	3	3	2	1	3	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:76471508C>A	ENST00000585328.1	-	54	8472	c.8348G>T	c.(8347-8349)cGc>cTc	p.R2783L	DNAH17_ENST00000389840.5_Missense_Mutation_p.R2774L|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2774	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)			CTCCAGGATGCGATTAATCCT	0.602																																						ENST00000389840.5																			0				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						c.(8320-8322)cGc>cTc		dynein, axonemal, heavy chain 17							53	57	55					17																	76471508		2071	4212	6283	SO:0001583	missense	8632							g.chr17:76471508C>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8348G>T	17.37:g.76471508C>A	ENSP00000465516:p.Arg2783Leu					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.R2783L	p.R2774L					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		54	8445	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.8321G>T		.	.	.	.	.	.	.	.	.	.	C	26.1	4.703198	0.88924	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.56776	0.44	4.72	4.72	0.59763	.	.	.	.	.	D	0.86818	0.6024	H	0.99942	5.005	0.53688	D	0.999976	.	.	.	.	.	.	D	0.93912	0.7198	7	0.87932	D	0	.	17.6841	0.88252	0.0:1.0:0.0:0.0	.	.	.	.	L	2783;2774	ENSP00000374490:R2774L	ENSP00000300671:R2783L	R	-	2	0	DNAH17	73983103	1.000000	0.71417	0.999000	0.59377	0.686000	0.39977	7.652000	0.83633	2.181000	0.69327	0.484000	0.47621	CGC		0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		25	28	1	0	2.12542e-12	1	2.29988e-12	25	28					A	76471508	C	A	76471508	3	1	435	1	0	0	0	0	1	0	0	0	4601	768	27	5	5137	5	DNAH17	17	76471508	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6732	76471508	4723702	7640	28565											
DNAH17	8632	broad.mit.edu	37	chr17	76488767	76488767	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgccaaagagctcgtcgcaGgtgacggccttggggtccag	8	7	15	11	3	0	2	0	1	0	1	3	2	1	2	3	4	2	2	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:76488767G>T	ENST00000585328.1	-	42	6598	c.6474C>A	c.(6472-6474)acC>acA	p.T2158T	DNAH17_ENST00000389840.5_Silent_p.T2149T|RP11-559N14.5_ENST00000585969.1_RNA|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000586052.1_5'Flank|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2149	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)			GCTCGTCGCAGGTGACGGCCT	0.607																																						ENST00000389840.5																			0				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						c.(6445-6447)acC>acA		dynein, axonemal, heavy chain 17							79	83	82					17																	76488767		2026	4193	6219	SO:0001819	synonymous_variant	8632							g.chr17:76488767G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6474C>A	17.37:g.76488767G>T						RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Silent_p.T2158T	p.T2149T					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		42	6571	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.6447C>A																																																																																					0.607	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		7	9	1	0	0.0293803	1	0.0295506	7	9					T	76488767	G	T	76488767	2	4	435	1	0	0	0	0	0	0	0	1	4601	987	35	5		5	DNAH17	17	76488767	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17259	76488767	4706443	7641	28566											
DNAH17	8632	broad.mit.edu	37	chr17	76567742	76567742	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccacttggggcagggggTgcagcccatccagcagcgcc	7	5	14	15	1	0	0	0	0	0	0	2	0	2	0	4	4	4	3	4	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:76567742T>C	ENST00000585328.1	-	4	786	c.662A>G	c.(661-663)cAc>cGc	p.H221R	DNAH17_ENST00000389840.5_Missense_Mutation_p.H221R	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	221	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)			GGGCAGGGGGTGCAGCCCATC	0.602																																						ENST00000389840.5																			0				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						c.(661-663)cAc>cGc		dynein, axonemal, heavy chain 17							69	76	74					17																	76567742		2049	4189	6238	SO:0001583	missense	8632							g.chr17:76567742T>C	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.662A>G	17.37:g.76567742T>C	ENSP00000465516:p.His221Arg					DNAH17_ENST00000585328.1_Missense_Mutation_p.H221R	p.H221R					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		4	786	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.662A>G		.	.	.	.	.	.	.	.	.	.	T	15.42	2.829094	0.50845	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.54866	0.55	5.13	5.13	0.70059	.	.	.	.	.	T	0.64962	0.2646	M	0.71036	2.16	0.35639	D	0.810799	.	.	.	.	.	.	T	0.73244	-0.4044	7	0.38643	T	0.18	.	14.5895	0.68354	0.0:0.0:0.0:1.0	.	.	.	.	R	221	ENSP00000374490:H221R	ENSP00000300671:H221R	H	-	2	0	DNAH17	74079337	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.501000	0.60393	1.922000	0.55676	0.459000	0.35465	CAC		0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	64	0	0	0	1	0	4	64					C	76567742	T	C	76567742	3	2	435	1	0	0	0	0	1	0	0	0	4601	1696	59	4	13038	4	DNAH17	17	76567742	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	78975	76567742	4627468	7642	28567											
C1QTNF1	114897	broad.mit.edu	37	chr17	77040182	77040182	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggactgaggagctgccGtcgcctccggaccatgccga	7	5	16	13	4	0	1	0	1	0	0	2	6	1	4	5	4	3	1	5	4	0	0	rs375199144		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:77040182G>A	ENST00000339142.2	+	3	687	c.132G>A	c.(130-132)ccG>ccA	p.P44P	C1QTNF1_ENST00000581774.1_Silent_p.P44P|C1QTNF1_ENST00000580454.1_Silent_p.P44P|C1QTNF1_ENST00000579760.1_Silent_p.P44P|C1QTNF1_ENST00000578229.1_5'UTR|C1QTNF1_ENST00000580474.1_Silent_p.P44P|C1QTNF1_ENST00000392445.2_Silent_p.P44P|C1QTNF1_ENST00000311661.4_Intron|C1QTNF1_ENST00000354124.3_Silent_p.P54P|C1QTNF1_ENST00000583904.1_Silent_p.P44P	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	44					negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AGGAGCTGCCGTCGCCTCCGG	0.677																																						ENST00000339142.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14						c.(130-132)ccG>ccA		C1q and tumor necrosis factor related protein 1		G	,,	0,4406		0,0,2203	41	36	38		132,132,	-6.1	0	17		38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron	C1QTNF1	NM_030968.2,NM_198593.2,NM_198594.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	44/282,44/282,	77040182	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114897					collagen		g.chr17:77040182G>A	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"G protein coupled receptor interacting protein"	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.132G>A	17.37:g.77040182G>A						C1QTNF1_ENST00000580474.1_Silent_p.P44P|C1QTNF1_ENST00000583904.1_Silent_p.P44P|C1QTNF1_ENST00000581774.1_Silent_p.P44P|C1QTNF1_ENST00000580454.1_Silent_p.P44P|C1QTNF1_ENST00000579760.1_Silent_p.P44P|C1QTNF1_ENST00000578229.1_5'UTR|C1QTNF1_ENST00000392445.2_Silent_p.P44P|C1QTNF1_ENST00000354124.3_Silent_p.P54P|C1QTNF1_ENST00000311661.4_Intron	p.P44P	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		3	687	+			44					Q6ZMH6|Q96NF2|Q9GZR4	Silent	SNP	ENST00000339142.2	37	c.132G>A	CCDS11761.1																																																																																				0.677	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		9	10	0	0	0	1	0	9	10					A	77040182	G	A	77040182	2	1	435	1	0	0	0	0	0	0	0	1	1962	1132	40	1		1	C1QTNF1	17	77040182	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	472440	77040182	4155028	7643	28568											
ENPP7	339221	broad.mit.edu	37	chr17	77709121	77709121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accggaccgtgggctacctcCgggagagcatcgcgcgcaac	8	4	14	15	6	0	1	0	0	0	1	2	3	1	2	4	3	3	3	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:77709121C>T	ENST00000328313.5	+	3	900	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7									p.R227W(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGGCTACCTCCGGGAGAGCAT	0.672																																						ENST00000328313.5																			1	Substitution - Missense(1)	p.R227W(1)	endometrium(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(679-681)Cgg>Tgg		ectonucleotide pyrophosphatase/phosphodiesterase 7							62	58	60					17																	77709121		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77709121C>T	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.679C>T	17.37:g.77709121C>T	ENSP00000332656:p.Arg227Trp						p.R227W	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	900	+			227						Missense_Mutation	SNP	ENST00000328313.5	37	c.679C>T	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708053	0.48412	.	.	ENSG00000182156	ENST00000328313	T	0.72942	-0.7	5.14	4.1	0.47936	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.130505	0.50627	D	0.000113	T	0.78349	0.4269	L	0.56199	1.76	0.40979	D	0.984767	D	0.89917	1.0	D	0.71414	0.973	T	0.80148	-0.1503	10	0.66056	D	0.02	-23.548	11.089	0.48104	0.3755:0.6245:0.0:0.0	.	227	Q6UWV6	ENPP7_HUMAN	W	227	ENSP00000332656:R227W	ENSP00000332656:R227W	R	+	1	2	ENPP7	75323716	0.976000	0.34144	0.495000	0.27527	0.232000	0.25224	2.586000	0.46119	2.380000	0.81148	0.655000	0.94253	CGG		0.672	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		13	20	0	0	0	1	0	13	20					T	77709121	C	T	77709121	3	4	435	1	0	0	0	0	1	0	0	0	5135	643	23	2	689	2	ENPP7	17	77709121	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	668939	77709121	3486089	7644	28569											
ENPP7	339221	broad.mit.edu	37	chr17	77709383	77709383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtctacaagaaggaggCgttccccgaggccttccact	9	7	10	15	3	1	1	0	0	1	1	3	3	3	2	5	3	1	1	5	3	3	3	rs148221256	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:77709383C>T	ENST00000328313.5	+	3	1162	c.941C>T	c.(940-942)gCg>gTg	p.A314V		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AAGAAGGAGGCGTTCCCCGAG	0.607													C|||	5	0.000998403	0	0	5008	,	,		12692	0.005		0	False		,,,				2504	0					ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(940-942)gCg>gTg		ectonucleotide pyrophosphatase/phosphodiesterase 7							79	69	72					17																	77709383		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77709383C>T	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.941C>T	17.37:g.77709383C>T	ENSP00000332656:p.Ala314Val						p.A314V	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	1162	+			314						Missense_Mutation	SNP	ENST00000328313.5	37	c.941C>T	CCDS11763.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	9.525	1.109390	0.20714	.	.	ENSG00000182156	ENST00000328313	T	0.75367	-0.93	5.16	-10.3	0.00346	Alkaline-phosphatase-like, core domain (1);	2.191760	0.03750	N	0.256410	T	0.39545	0.1082	N	0.05383	-0.06	0.09310	N	1	B	0.18310	0.027	B	0.12837	0.008	T	0.42207	-0.9465	10	0.52906	T	0.07	-0.5261	5.6555	0.17640	0.5382:0.2657:0.0617:0.1344	.	314	Q6UWV6	ENPP7_HUMAN	V	314	ENSP00000332656:A314V	ENSP00000332656:A314V	A	+	2	0	ENPP7	75323978	0.003000	0.15002	0.000000	0.03702	0.013000	0.08279	0.718000	0.25866	-2.154000	0.00792	-2.138000	0.00339	GCG		0.607	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		5	22	0	0	0	1	0	5	22					T	77709383	C	T	77709383	3	4	435	1	0	0	0	0	1	0	0	0	5135	768	27	1	951	1	ENPP7	17	77709383	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	262	77709383	3485827	7645	28570											
CBX2	84733	broad.mit.edu	37	chr17	77758430	77758430	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagggcactgggagtggcctCattggggccagcggggccac	7	5	18	11	1	1	0	1	0	0	0	1	1	1	1	3	7	1	1	3	7	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:77758430C>T	ENST00000310942.4	+	5	1292	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	396					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAGTGGCCTCATTGGGGCCA	0.682																																						ENST00000310942.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(1186-1188)ctC>ctT		chromobox homolog 2							15	19	18					17																	77758430		2198	4284	6482	SO:0001819	synonymous_variant	84733				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	g.chr17:77758430C>T	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"Pc class homolog (Drosophila)"	602770	"chromobox homolog 2 (Drosophila Pc class)", "cell division cycle associated 6"	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.1188C>T	17.37:g.77758430C>T							p.L396L	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1292	+			396					Q0VDA5|Q9BTB1	Silent	SNP	ENST00000310942.4	37	c.1188C>T	CCDS32757.1																																																																																				0.682	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		6	5	0	0	0	1	0	6	5					T	77758430	C	T	77758430	2	4	435	1	0	0	0	0	0	0	0	1	2718	813	29	3		3	CBX2	17	77758430	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	49047	77758430	3436780	7646	28571											
CBX8	57332	broad.mit.edu	37	chr17	77768741	77768741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctccaggaaggcagccCtgtgctttatcaccctggcc	6	9	11	15	0	1	0	1	0	0	0	2	1	2	1	5	4	2	2	5	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:77768741C>T	ENST00000269385.4	-	5	980	c.863G>A	c.(862-864)aGg>aAg	p.R288K	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	288					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			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)			GAAGGCAGCCCTGTGCTTTAT	0.662																																						ENST00000269385.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14						c.(862-864)aGg>aAg		chromobox homolog 8							29	29	29					17																	77768741		2200	4298	6498	SO:0001583	missense	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77768741C>T	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"polycomb 3", "Pc class 3 homolog (Drosophila)"		"chromobox homolog 8 (Drosophila Pc class)"			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.863G>A	17.37:g.77768741C>T	ENSP00000269385:p.Arg288Lys						p.R288K	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	980	-			288					Q96H39|Q9NR07	Missense_Mutation	SNP	ENST00000269385.4	37	c.863G>A	CCDS11765.1	.	.	.	.	.	.	.	.	.	.	c	13.93	2.384631	0.42308	.	.	ENSG00000141570	ENST00000269385;ENST00000427800	T	0.48522	0.81	4.34	4.34	0.51931	.	0.670379	0.15370	N	0.265893	T	0.56187	0.1968	L	0.42245	1.32	0.44030	D	0.996754	D	0.58970	0.984	D	0.68192	0.956	T	0.46289	-0.9202	10	0.02654	T	1	-22.871	17.09	0.86619	0.0:1.0:0.0:0.0	.	288	Q9HC52	CBX8_HUMAN	K	288;263	ENSP00000269385:R288K	ENSP00000269385:R288K	R	-	2	0	CBX8	75383336	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.988000	0.49386	2.430000	0.82344	0.450000	0.29827	AGG		0.662	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		5	4	0	0	0	1	0	5	4					T	77768741	C	T	77768741	3	4	435	1	0	0	0	0	1	0	0	0	2724	680	24	3	285	3	CBX8	17	77768741	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10311	77768741	3426469	7647	28572											
CBX4	8535	broad.mit.edu	37	chr17	77808244	77808244	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agattcaggccgacggcgtgGtggtggtggtggtggtggtg	4	10	22	5	3	1	1	1	0	0	1	1	2	1	1	1	9	0	0	1	9	0	1	rs3833850		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:77808244G>A	ENST00000269397.4	-	5	1374	c.1197C>T	c.(1195-1197)caC>caT	p.H399H		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	399	His-rich.|Interaction with BMI1.|Poly-His.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			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)			CGACGGCgtggtggtggtggt	0.711																																						ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(1195-1197)caC>caT		chromobox homolog 4							5	7	6					17																	77808244		2046	4040	6086	SO:0001819	synonymous_variant	8535				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	g.chr17:77808244G>A	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"NS5ATP1-binding protein 16", "Pc class 2 homolog (Drosophila)"	603079	"chromobox homolog 4 (Drosophila Pc class)"			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1197C>T	17.37:g.77808244G>A							p.H399H	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1374	-			399			His-rich.|Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Silent	SNP	ENST00000269397.4	37	c.1197C>T	CCDS32758.1																																																																																				0.711	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		3	5	0	0	0	1	0	3	5					A	77808244	G	A	77808244	2	1	435	1	0	0	0	0	0	0	0	1	2720	1252	44	3		3	CBX4	17	77808244	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	39503	77808244	3386966	7648	28573											
CBX4	8535	broad.mit.edu	37	chr17	77809045	77809045	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgcccgctccttgctgtgCggctggtactggtggtgctt	1	12	14	14	3	0	0	0	0	0	0	1	0	1	0	3	4	4	5	3	4	1	3	rs541220750		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:77809045C>T	ENST00000269397.4	-	5	573	c.396G>A	c.(394-396)ccG>ccA	p.P132P	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	132	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			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)			CCTTGCTGTGCGGCTGGTACT	0.647											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	8e-04	0	5008	,	,		14945	0		0	False		,,,				2504	0					ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(394-396)ccG>ccA		chromobox homolog 4							113	113	113					17																	77809045		2203	4300	6503	SO:0001819	synonymous_variant	8535				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	g.chr17:77809045C>T	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"NS5ATP1-binding protein 16", "Pc class 2 homolog (Drosophila)"	603079	"chromobox homolog 4 (Drosophila Pc class)"			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.396G>A	17.37:g.77809045C>T			OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178	CBX4_ENST00000448310.1_3'UTR	p.P132P	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	573	-			132			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Silent	SNP	ENST00000269397.4	37	c.396G>A	CCDS32758.1																																																																																				0.647	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		31	52	0	0	0	1	0	31	52					T	77809045	C	T	77809045	2	4	435	1	0	0	0	0	0	0	0	1	2720	755	27	1		1	CBX4	17	77809045	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	801	77809045	3386165	7649	28574											
TBC1D16	125058	broad.mit.edu	37	chr17	77914707	77914707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgtctttgggcccttcttgCcttccctcagggacttgggg	2	13	13	13	1	3	0	1	0	2	0	4	1	4	1	3	4	1	0	3	4	0	5	rs187446235		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:77914707C>T	ENST00000310924.2	-	12	2370	c.2255G>A	c.(2254-2256)gGc>gAc	p.G752D	TBC1D16_ENST00000340848.7_Missense_Mutation_p.G390D|TBC1D16_ENST00000576768.1_Missense_Mutation_p.G377D	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	752							Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCCCTTCTTGCCTTCCCTCAG	0.687																																					Ovarian(14;397 562 4850 31922 49378)	ENST00000310924.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28						c.(2254-2256)gGc>gAc		TBC1 domain family, member 16							16	14	14					17																	77914707		2198	4287	6485	SO:0001583	missense	125058					intracellular	Rab GTPase activator activity	g.chr17:77914707C>T	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.2255G>A	17.37:g.77914707C>T	ENSP00000309794:p.Gly752Asp					TBC1D16_ENST00000340848.7_Missense_Mutation_p.G390D|TBC1D16_ENST00000576768.1_Missense_Mutation_p.G377D	p.G752D	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		12	2370	-	all_neural(118;0.167)		752					B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	37	c.2255G>A	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378688	0.61735	.	.	ENSG00000167291	ENST00000340848;ENST00000310924	T;T	0.10668	3.15;2.85	4.79	4.79	0.61399	.	1.044460	0.07526	N	0.911364	T	0.19644	0.0472	M	0.63428	1.95	0.80722	D	1	D;D;P	0.56035	0.974;0.974;0.883	P;P;B	0.45310	0.476;0.476;0.36	T	0.05683	-1.0870	10	0.62326	D	0.03	-29.7832	13.5639	0.61806	0.0:0.8439:0.1561:0.0	.	752;752;390	Q8TBP0;B9A6L7;Q8N3Z4	TBC16_HUMAN;.;.	D	390;752	ENSP00000341517:G390D;ENSP00000309794:G752D	ENSP00000309794:G752D	G	-	2	0	TBC1D16	75529302	1.000000	0.71417	0.977000	0.42913	0.840000	0.47671	4.174000	0.58256	2.188000	0.69820	0.305000	0.20034	GGC		0.687	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		3	8	0	0	0	1	0	3	8					T	77914707	C	T	77914707	3	4	435	1	0	0	0	0	1	0	0	0	15602	739	26	3	52	3	TBC1D16	17	77914707	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	105662	77914707	3280503	7650	28575											
TBC1D16	125058	broad.mit.edu	37	chr17	77926467	77926467	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttcctacctgaagaaaagGcggagggagcgcatgtggcc	10	6	15	10	2	0	2	0	1	0	1	1	4	1	4	3	4	2	2	3	4	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:77926467G>A	ENST00000310924.2	-	4	1045	c.930C>T	c.(928-930)cgC>cgT	p.R310R	TBC1D16_ENST00000340848.7_5'Flank|TBC1D16_ENST00000572862.1_5'Flank|TBC1D16_ENST00000570373.1_5'Flank|TBC1D16_ENST00000576768.1_5'Flank	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	310							Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TGAAGAAAAGGCGGAGGGAGC	0.662																																					Ovarian(14;397 562 4850 31922 49378)	ENST00000310924.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28						c.(928-930)cgC>cgT		TBC1 domain family, member 16							29	35	33					17																	77926467		2203	4300	6503	SO:0001819	synonymous_variant	125058					intracellular	Rab GTPase activator activity	g.chr17:77926467G>A	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.930C>T	17.37:g.77926467G>A							p.R310R	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		4	1045	-	all_neural(118;0.167)		310					B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Silent	SNP	ENST00000310924.2	37	c.930C>T	CCDS11766.1																																																																																				0.662	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		4	22	0	0	0	1	0	4	22					A	77926467	G	A	77926467	2	1	435	1	0	0	0	0	0	0	0	1	15602	1190	42	3		3	TBC1D16	17	77926467	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11760	77926467	3268743	7651	28576											
CCDC40	55036	broad.mit.edu	37	chr17	78011943	78011943	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccatccggaagatggatcGgcttctgagggagagaagga	11	7	15	8	2	1	3	0	1	1	2	4	8	3	7	2	5	0	1	2	5	2	1	rs141650385	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78011943G>A	ENST00000397545.4	+	2	78	c.51G>A	c.(49-51)tcG>tcA	p.S17S	TBC1D16_ENST00000310924.2_5'Flank|CCDC40_ENST00000374877.3_Silent_p.S17S|CCDC40_ENST00000269318.5_Silent_p.S17S|CCDC40_ENST00000374876.4_Silent_p.S17S	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	17					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGATGGATCGGCTTCTGAGG	0.418													G|||	9	0.00179712	0.0068	0	5008	,	,		17445	0		0	False		,,,				2504	0					ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(49-51)tcG>tcA		coiled-coil domain containing 40		G		10,3644		0,10,1817	62	61	61		51	-3.6	0	17	dbSNP_134	61	1,8159		0,1,4079	no	coding-synonymous	CCDC40	NM_017950.3		0,11,5896	AA,AG,GG		0.0123,0.2737,0.0931		17/1143	78011943	11,11803	1827	4080	5907	SO:0001819	synonymous_variant	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78011943G>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.51G>A	17.37:g.78011943G>A						CCDC40_ENST00000374877.3_Silent_p.S17S|CCDC40_ENST00000374876.4_Silent_p.S17S|CCDC40_ENST00000269318.5_Silent_p.S17S	p.S17S	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	78	+	all_neural(118;0.167)		17					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	c.51G>A	CCDS42395.1																																																																																				0.418	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		20	24	0	0	0	1	0	20	24					A	78011943	G	A	78011943	2	1	435	1	0	0	0	0	0	0	0	1	2812	1103	39	2		2	CCDC40	17	78011943	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	85476	78011943	3183267	7652	28577											
CARD14	79092	broad.mit.edu	37	chr17	78156559	78156559	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaccctggtcaccgggctgCagcctgatgttgacttcagt	7	10	11	13	1	2	2	2	2	0	0	2	2	2	2	3	2	2	3	3	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78156559C>T	ENST00000573882.1	+	5	855	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	CARD14_ENST00000570421.1_Nonsense_Mutation_p.Q107*|CARD14_ENST00000392434.2_5'Flank|CARD14_ENST00000344227.2_Nonsense_Mutation_p.Q107*			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	107	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			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)			CACCGGGCTGCAGCCTGATGT	0.572																																						ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(319-321)Cag>Tag		caspase recruitment domain family, member 14							135	102	113					17																	78156559		2203	4300	6503	SO:0001587	stop_gained	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78156559C>T	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.319C>T	17.37:g.78156559C>T	ENSP00000458715:p.Gln107*					CARD14_ENST00000344227.2_Nonsense_Mutation_p.Q107*|CARD14_ENST00000570421.1_Nonsense_Mutation_p.Q107*	p.Q107*			Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		5	855	+	all_neural(118;0.0952)		107			CARD.		B8QQJ3|Q9BVB5	Nonsense_Mutation	SNP	ENST00000573882.1	37	c.319C>T	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839881	0.71488	.	.	ENSG00000141527	ENST00000344227	.	.	.	4.11	3.09	0.35607	.	0.191742	0.43747	D	0.000525	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.7892	9.1235	0.36801	0.0:0.607:0.393:0.0	.	.	.	.	X	107	.	ENSP00000344549:Q107X	Q	+	1	0	CARD14	75771154	1.000000	0.71417	0.998000	0.56505	0.037000	0.13140	3.740000	0.55082	1.839000	0.53478	0.591000	0.81541	CAG		0.572	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			17	30	0	0	0	1	0	17	30					T	78156559	C	T	78156559	4	4	435	1	0	0	0	0	0	1	0	0	2646	711	25	3	325	3	CARD14	17	78156559	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	144616	78156559	3038651	7653	28578											
CARD14	79092	broad.mit.edu	37	chr17	78169064	78169064	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgctccagcagccccgcGccccccagccagcagtccct	5	5	8	23	3	0	0	0	0	0	0	3	0	3	0	9	0	4	3	9	0	0	1	rs564427787		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78169064G>A	ENST00000573882.1	+	12	1967	c.1431G>A	c.(1429-1431)gcG>gcA	p.A477A	CARD14_ENST00000570421.1_Silent_p.A477A|CARD14_ENST00000392434.2_Silent_p.A240A|CARD14_ENST00000344227.2_Silent_p.A477A|CARD14_ENST00000573754.1_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	477					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			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)			GCAGCCCCGCGCCCCCCAGCC	0.657													G|||	1	0.000199681	0	0	5008	,	,		17333	0		0	False		,,,				2504	0.001					ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(1429-1431)gcG>gcA		caspase recruitment domain family, member 14							27	29	29					17																	78169064		2202	4300	6502	SO:0001819	synonymous_variant	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78169064G>A	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1431G>A	17.37:g.78169064G>A						CARD14_ENST00000344227.2_Silent_p.A477A|CARD14_ENST00000570421.1_Silent_p.A477A|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Silent_p.A240A	p.A477A			Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		12	1967	+	all_neural(118;0.0952)		477					B8QQJ3|Q9BVB5	Silent	SNP	ENST00000573882.1	37	c.1431G>A	CCDS11768.1																																																																																				0.657	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			19	1	0	0	0	1	0	19	1					A	78169064	G	A	78169064	2	1	435	1	0	0	0	0	0	0	0	1	2646	1074	38	1		1	CARD14	17	78169064	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12505	78169064	3026146	7654	28579											
SLC26A11	6448	broad.mit.edu	37	chr17	78197133	78197133	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatcggctttggacagatCaaggtaggcacggcgcccac	10	6	12	13	3	1	1	1	0	0	1	2	2	1	2	2	5	0	3	2	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78197133C>T	ENST00000326317.6	-	0	0				SGSH_ENST00000534910.1_5'Flank|SLC26A11_ENST00000361193.3_Silent_p.I170I|SLC26A11_ENST00000411502.3_Silent_p.I170I|SLC26A11_ENST00000546047.2_Silent_p.I170I|SGSH_ENST00000570923.1_5'Flank|SLC26A11_ENST00000572725.1_Silent_p.I170I	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TTGGACAGATCAAGGTAGGCA	0.617																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(508-510)atC>atT		solute carrier family 26 (anion exchanger), member 11							82	57	65					17																	78197133		2203	4300	6503	SO:0001631	upstream_gene_variant	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78197133C>T	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78197133C>T	Exception_encountered					SLC26A11_ENST00000572725.1_Silent_p.I170I|SLC26A11_ENST00000411502.3_Silent_p.I170I|SLC26A11_ENST00000546047.2_Silent_p.I170I	p.I170I	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		5	790	+	all_neural(118;0.0538)		170					A8K5E2	Silent	SNP	ENST00000326317.6	37	c.510C>T	CCDS11770.1																																																																																				0.617	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		5	9	0	0	0	1	0	5	9					T	78197133	C	T	78197133	1	4	435	0	1	0	0	0	0	0	0	0	14516	816	29	3		3	SLC26A11	17	78197133	5'Flank	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	28069	78197133	2998077	7655	28580											
RNF213	57674	broad.mit.edu	37	chr17	78265574	78265574	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaccagcagaagaagggCgagtacgtcaaccgctgtct	13	5	12	11	3	2	2	1	0	1	2	2	3	2	2	2	1	4	4	2	1	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78265574C>T	ENST00000582970.1	+	8	1562	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	RNF213_ENST00000508628.2_Silent_p.G522G|RNF213_ENST00000319921.4_Silent_p.G473G|RNF213_ENST00000456466.1_Silent_p.G473G	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	473					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGAAGAAGGGCGAGTACGTCA	0.473																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(1417-1419)ggC>ggT		ring finger protein 213							101	90	94					17																	78265574		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78265574C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.1419C>T	17.37:g.78265574C>T						RNF213_ENST00000319921.4_Silent_p.G473G|RNF213_ENST00000456466.1_Silent_p.G473G|RNF213_ENST00000508628.2_Silent_p.G522G	p.G473G	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		8	1562	+	all_neural(118;0.0538)		473					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.1419C>T	CCDS58606.1																																																																																				0.473	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		31	43	0	0	0	1	0	31	43					T	78265574	C	T	78265574	2	4	435	1	0	0	0	0	0	0	0	1	13477	755	27	1		1	RNF213	17	78265574	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	68441	78265574	2929636	7656	28581											
RNF213	57674	broad.mit.edu	37	chr17	78293254	78293254	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggcaccctcctccctcGccaagggcaatggcgctgaa	8	6	12	15	2	0	1	0	1	0	0	3	1	2	1	4	3	0	3	4	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78293254G>A	ENST00000582970.1	+	17	3167				RNF213_ENST00000508628.2_Intron|CTD-2047H16.2_ENST00000576808.1_RNA|RNF213_ENST00000319921.4_Missense_Mutation_p.A1056T|RNF213_ENST00000456466.1_Intron	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213						ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTCCTCCCTCGCCAAGGGCAA	0.572																																						ENST00000319921.4																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(3166-3168)Gcc>Acc		ring finger protein 213							71	68	69					17																	78293254		2203	4300	6503	SO:0001627	intron_variant	57674							g.chr17:78293254G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.3024+142G>A	17.37:g.78293254G>A						RNF213_ENST00000456466.1_Intron|RNF213_ENST00000582970.1_Intron|RNF213_ENST00000508628.2_Intron	p.A1056T	NM_020954.3	NP_066005.2	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		17	3307	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.3166G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	g	15.89	2.967572	0.53507	.	.	ENSG00000173821	ENST00000319921	.	.	.	3.07	-0.374	0.12512	.	0.667620	0.11838	N	0.524575	T	0.17365	0.0417	N	0.22421	0.69	0.09310	N	1	B	0.28470	0.213	B	0.22753	0.041	T	0.17684	-1.0361	8	.	.	.	.	2.4235	0.04454	0.2794:0.0:0.4906:0.23	.	1056	Q9HCF4-2	.	T	1056	.	.	A	+	1	0	RNF213	75907849	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.253000	0.08794	-0.020000	0.14032	0.645000	0.84053	GCC		0.572	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		16	25	0	0	0	1	0	16	25					A	78293254	G	A	78293254	1	1	435	0	1	0	0	0	0	0	0	0	13477	1087	38	1		1	RNF213	17	78293254	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27680	78293254	2901956	7657	28582											
RNF213	57674	broad.mit.edu	37	chr17	78320610	78320610	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagcaccttccggcagtgCgcccgctttcagcaggggaa	8	7	12	14	3	2	0	2	0	0	0	3	1	3	1	3	3	3	4	3	3	1	2	rs375053532	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78320610C>T	ENST00000582970.1	+	29	8618	c.8475C>T	c.(8473-8475)tgC>tgT	p.C2825C	RNF213_ENST00000508628.2_Silent_p.C2874C|RNF213_ENST00000336301.6_Silent_p.C898C	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2825					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCCGGCAGTGCGCCCGCTTTC	0.607													C|||	2	0.000399361	0	0.0029	5008	,	,		18246	0		0	False		,,,				2504	0					ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(8473-8475)tgC>tgT		ring finger protein 213		C		0,4406		0,0,2203	51	47	48		8622	-8.2	0.7	17		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNF213	NM_020914.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2874/5257	78320610	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78320610C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8475C>T	17.37:g.78320610C>T						RNF213_ENST00000336301.6_Silent_p.C898C|RNF213_ENST00000508628.2_Silent_p.C2874C	p.C2825C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	8618	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.8475C>T	CCDS58606.1																																																																																				0.607	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		12	16	0	0	0	1	0	12	16					T	78320610	C	T	78320610	2	4	435	1	0	0	0	0	0	0	0	1	13477	776	27	1		1	RNF213	17	78320610	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27356	78320610	2874600	7658	28583											
RNF213	57674	broad.mit.edu	37	chr17	78341603	78341603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttttgaggccgtgatgcGcactctctgtgaatgcaagg	7	11	13	10	2	1	3	0	3	1	0	2	3	1	3	2	2	2	2	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78341603G>A	ENST00000582970.1	+	43	12070	c.11927G>A	c.(11926-11928)cGc>cAc	p.R3976H	RNF213_ENST00000508628.2_Missense_Mutation_p.R4025H|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2049H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3976					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCCGTGATGCGCACTCTCTGT	0.547																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(11926-11928)cGc>cAc		ring finger protein 213							84	78	80					17																	78341603		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78341603G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11927G>A	17.37:g.78341603G>A	ENSP00000464087:p.Arg3976His					CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2049H|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4025H	p.R3976H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		43	12070	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.11927G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	g	9.629	1.135791	0.21123	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24538	1.85	5.08	-0.703	0.11261	.	1.761980	0.02354	N	0.076264	T	0.12732	0.0309	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.21552	-1.0242	10	0.42905	T	0.14	.	5.2415	0.15473	0.5536:0.2603:0.1126:0.0735	.	4025;2049	C9JCP4;Q63HN8	.;RN213_HUMAN	H	3976;4025;2049	ENSP00000338218:R2049H	ENSP00000338218:R2049H	R	+	2	0	RNF213	75956198	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.832000	0.04400	-0.351000	0.08249	-1.990000	0.00449	CGC		0.547	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		4	35	0	0	0	1	0	4	35					A	78341603	G	A	78341603	3	1	435	1	0	0	0	0	1	0	0	0	13477	1087	38	1	12412	1	RNF213	17	78341603	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20993	78341603	2853607	7659	28584											
RNF213	57674	broad.mit.edu	37	chr17	78349610	78349610	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctacttcctgttaacactGtttagagaggtggctatttt	8	16	9	8	0	0	1	0	0	0	1	1	2	1	1	2	2	2	3	2	2	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78349610G>A	ENST00000582970.1	+	51	13268	c.13125G>A	c.(13123-13125)ctG>ctA	p.L4375L	RNF213_ENST00000508628.2_Silent_p.L4424L|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Silent_p.L2448L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4375					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGTTAACACTGTTTAGAGAGG	0.483																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(13123-13125)ctG>ctA		ring finger protein 213							104	95	98					17																	78349610		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78349610G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13125G>A	17.37:g.78349610G>A						CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Silent_p.L2448L|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.L4424L	p.L4375L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		51	13268	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.13125G>A	CCDS58606.1																																																																																				0.483	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		9	48	0	0	0	1	0	9	48					A	78349610	G	A	78349610	2	1	435	1	0	0	0	0	0	0	0	1	13477	1364	48	3		3	RNF213	17	78349610	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8007	78349610	2845600	7660	28585											
RNF213	57674	broad.mit.edu	37	chr17	78360611	78360611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggagggcagagagaccGtgcaggagttcgatctggag	10	6	19	6	2	1	2	0	0	1	2	2	8	1	6	1	5	1	3	1	5	0	1	rs375652626		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78360611G>A	ENST00000582970.1	+	63	14985	c.14842G>A	c.(14842-14844)Gtg>Atg	p.V4948M	RNF213_ENST00000508628.2_Missense_Mutation_p.V4997M|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.V3021M	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4948					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGAGAGACCGTGCAGGAGTT	0.587																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(14842-14844)Gtg>Atg		ring finger protein 213		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	69	61	63		14989	-10.1	0	17		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	RNF213	NM_020914.4	21	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	4997/5257	78360611	2,13004	2203	4300	6503	SO:0001583	missense	57674							g.chr17:78360611G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14842G>A	17.37:g.78360611G>A	ENSP00000464087:p.Val4948Met					CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.V3021M|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.V4997M|RNF213_ENST00000427003.3_3'UTR	p.V4948M	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		63	14985	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.14842G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	3.868	-0.028520	0.07589	2.27E-4	1.16E-4	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.22336	1.96	5.04	-10.1	0.00402	.	0.753361	0.11569	N	0.550983	T	0.07458	0.0188	N	0.14661	0.345	0.09310	N	1	B	0.19706	0.038	B	0.06405	0.002	T	0.16600	-1.0397	10	0.33141	T	0.24	.	5.8731	0.18814	0.0809:0.1618:0.1625:0.5949	.	3021	Q63HN8	RN213_HUMAN	M	4948;4997;3021;298	ENSP00000338218:V3021M	ENSP00000338218:V3021M	V	+	1	0	RNF213	75975206	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.107000	0.10873	-1.894000	0.01105	-2.172000	0.00323	GTG		0.587	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		9	14	0	0	0	1	0	9	14					A	78360611	G	A	78360611	3	1	435	1	0	0	0	0	1	0	0	0	13477	1145	40	1	15407	1	RNF213	17	78360611	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11001	78360611	2834599	7661	28586											
FLJ35220	284131	broad.mit.edu	37	chr17	78409945	78409945	+	3'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtctagcactttgttgaaCgtggtggtgagagcacacgt	9	11	13	8	3	1	2	0	2	1	1	1	3	1	2	0	2	3	3	0	2	2	3	rs549419552		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78409945C>T	ENST00000518137.1	+	0	879				ENDOV_ENST00000520367.1_3'UTR|ENDOV_ENST00000518907.1_Missense_Mutation_p.R49C|ENDOV_ENST00000517795.1_3'UTR|ENDOV_ENST00000518901.1_3'UTR|ENDOV_ENST00000520284.1_Missense_Mutation_p.R49C	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V						DNA repair (GO:0006281)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|magnesium ion binding (GO:0000287)|single-stranded RNA binding (GO:0003727)|structure-specific DNA binding (GO:0043566)			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						ctttgttgaacgtggtggtga	0.537								Direct reversal of damage					c|||	1	0.000199681	0	0	5008	,	,		22404	0		0	False		,,,				2504	0.001					ENST00000520284.1																			0				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						c.(145-147)Cgt>Tgt	Direct reversal of damage	endonuclease V							109	88	95					17																	78409945		1568	3582	5150	SO:0001624	3_prime_UTR_variant	284131				DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding	g.chr17:78409945C>T		CCDS54172.1, CCDS54173.1, CCDS54174.1	17q25.3	2011-05-05			ENSG00000173818	ENSG00000173818			26640	protein-coding gene	gene with protein product						12853604	Standard	NM_001164638		Approved	FLJ35220	uc021ueo.1	Q8N8Q3	OTTHUMG00000164638	ENST00000518137.1:c.*2C>T	17.37:g.78409945C>T						ENDOV_ENST00000518907.1_Missense_Mutation_p.R49C|ENDOV_ENST00000520367.1_3'UTR|ENDOV_ENST00000518901.1_3'UTR|ENDOV_ENST00000518137.1_3'UTR|ENDOV_ENST00000517795.1_3'UTR	p.R49C			Q8N8Q3	ENDOV_HUMAN			6	563	+			0					I3L3S4|Q6P2G2|Q86X99|Q8NAK0	Missense_Mutation	SNP	ENST00000518137.1	37	c.145C>T	CCDS54172.1																																																																																				0.537	ENDOV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379487.1	NM_173627		16	25	0	0	0	1	0	16	25					T	78409945	C	T	78409945	1	4	435	0	1	0	0	0	0	0	0	0	5927	551	19	1		1	FLJ35220	17	78409945	3'UTR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	49334	78409945	2785265	7662	28587											
RPTOR	57521	broad.mit.edu	37	chr17	78857702	78857702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagaacttcgactcggCgaggtggtgcggcgtgaggg	6	7	19	9	5	0	2	0	1	0	1	2	4	0	2	0	6	2	1	0	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78857702C>T	ENST00000306801.3	+	16	2134	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	591					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TTCGACTCGGCGAGGTGGTGC	0.647																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(1771-1773)gCg>gTg		regulatory associated protein of MTOR, complex 1							59	55	56					17																	78857702		2203	4300	6503	SO:0001583	missense	57521				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	g.chr17:78857702C>T		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1772C>T	17.37:g.78857702C>T	ENSP00000307272:p.Ala591Val					RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	p.A591V	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			16	2134	+			591					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.1772C>T	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405191	0.83230	.	.	ENSG00000141564	ENST00000306801	T	0.35048	1.33	4.56	4.56	0.56223	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58352	0.2116	M	0.87328	2.875	0.80722	D	1	D	0.69078	0.997	P	0.53593	0.73	T	0.68588	-0.5369	10	0.54805	T	0.06	.	17.7477	0.88425	0.0:1.0:0.0:0.0	.	591	Q8N122	RPTOR_HUMAN	V	591	ENSP00000307272:A591V	ENSP00000307272:A591V	A	+	2	0	RPTOR	76472297	1.000000	0.71417	0.579000	0.28588	0.407000	0.30961	7.248000	0.78268	2.262000	0.75019	0.558000	0.71614	GCG		0.647	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		6	25	0	0	0	1	0	6	25					T	78857702	C	T	78857702	3	4	435	1	0	0	0	0	1	0	0	0	13665	768	27	1	1834	1	RPTOR	17	78857702	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	447757	78857702	2337508	7663	28588											
BAIAP2	10458	broad.mit.edu	37	chr17	79077815	79077815	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccagcccaaatccctgTctcctccgcagtctcagagc	7	8	7	19	1	2	1	1	0	2	1	6	1	4	1	5	0	3	1	5	0	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79077815T>C	ENST00000321300.6	+	9	1066	c.973T>C	c.(973-975)Tct>Cct	p.S325P	BAIAP2_ENST00000321280.7_Missense_Mutation_p.S325P|BAIAP2_ENST00000435091.3_Missense_Mutation_p.S325P|BAIAP2_ENST00000392411.3_Missense_Mutation_p.S247P|BAIAP2_ENST00000575245.1_Missense_Mutation_p.S358P|BAIAP2_ENST00000428708.2_Missense_Mutation_p.S325P|BAIAP2_ENST00000575712.1_Missense_Mutation_p.S325P|BAIAP2_ENST00000416299.2_Missense_Mutation_p.S188P	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	325					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CAAATCCCTGTCTCCTCCGCA	0.617																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(973-975)Tct>Cct		BAI1-associated protein 2							90	94	92					17																	79077815		2203	4300	6503	SO:0001583	missense	10458				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	g.chr17:79077815T>C	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.973T>C	17.37:g.79077815T>C	ENSP00000316338:p.Ser325Pro					BAIAP2_ENST00000575245.1_Missense_Mutation_p.S358P|BAIAP2_ENST00000435091.3_Missense_Mutation_p.S325P|BAIAP2_ENST00000416299.2_Missense_Mutation_p.S188P|BAIAP2_ENST00000392411.3_Missense_Mutation_p.S247P|BAIAP2_ENST00000575712.1_Missense_Mutation_p.S325P|BAIAP2_ENST00000321280.7_Missense_Mutation_p.S325P|BAIAP2_ENST00000428708.2_Missense_Mutation_p.S325P	p.S325P	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		9	1066	+	all_neural(118;0.101)		325					O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	c.973T>C	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.074001	0.76415	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03	5.07	4.0	0.46444	.	0.339987	0.33477	N	0.004862	T	0.67998	0.2953	L	0.54323	1.7	0.51012	D	0.999902	D;D;D;D;D;D;D;D;D	0.71674	0.991;0.988;0.998;0.991;0.995;0.967;0.959;0.966;0.985	P;P;P;P;P;P;P;P;P	0.59221	0.764;0.775;0.854;0.764;0.83;0.663;0.628;0.735;0.809	T	0.64588	-0.6372	10	0.33940	T	0.23	-5.7239	10.5129	0.44872	0.0:0.0766:0.0:0.9234	.	188;247;326;325;325;325;325;325;325	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	P	325;325;325;325;247;188	ENSP00000316338:S325P;ENSP00000401022:S325P;ENSP00000413069:S325P;ENSP00000315685:S325P;ENSP00000376211:S247P;ENSP00000391837:S188P	ENSP00000315685:S325P	S	+	1	0	BAIAP2	76692410	0.012000	0.17670	0.474000	0.27266	0.978000	0.69477	0.567000	0.23608	0.792000	0.33850	0.379000	0.24179	TCT		0.617	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			23	34	0	0	0	1	0	23	34					C	79077815	T	C	79077815	3	2	435	1	0	0	0	0	1	0	0	0	1301	1667	58	4	1007	4	BAIAP2	17	79077815	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	220113	79077815	2117395	7664	28589											
AATK	9625	broad.mit.edu	37	chr17	79094371	79094371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggccggccctgacaacagtCctgggggcccctggaactca	7	5	14	15	1	1	1	1	1	0	0	2	2	2	2	5	5	2	0	5	5	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79094371C>T	ENST00000326724.4	-	11	3389	c.3365G>A	c.(3364-3366)gGa>gAa	p.G1122E	AATK_ENST00000417379.1_Missense_Mutation_p.G1019E	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1122	Pro-rich.				brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGACAACAGTCCTGGGGGCCC	0.697																																						ENST00000326724.4																			0				endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21						c.(3364-3366)gGa>gAa		apoptosis-associated tyrosine kinase							6	6	6					17																	79094371		1762	3969	5731	SO:0001583	missense	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79094371C>T	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3365G>A	17.37:g.79094371C>T	ENSP00000324196:p.Gly1122Glu					AATK_ENST00000417379.1_Missense_Mutation_p.G1019E	p.G1122E	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		11	3389	-	all_neural(118;0.101)		1122			Pro-rich.		O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	c.3365G>A	CCDS45807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.164|7.164	0.586368|0.586368	0.13749|0.13749	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000417379|ENST00000326724	.|T	.|0.76839	.|-1.05	4.58|4.58	-0.138|-0.138	0.13464|0.13464	.|.	.|1.106660	.|0.07032	.|N	.|0.828652	T|T	0.60586|0.60586	0.2280|0.2280	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B	.|0.14012	.|0.009	.|B	.|0.15052	.|0.012	T|T	0.38929|0.38929	-0.9638|-0.9638	5|10	.|0.20046	.|T	.|0.44	.|.	3.4728|3.4728	0.07574|0.07574	0.2918:0.4035:0.0:0.3047|0.2918:0.4035:0.0:0.3047	.|.	.|1122	.|Q6ZMQ8	.|LMTK1_HUMAN	N|E	1075|1122	.|ENSP00000324196:G1122E	.|ENSP00000324196:G1122E	D|G	-|-	1|2	0|0	AATK|AATK	76708966|76708966	0.000000|0.000000	0.05858|0.05858	0.017000|0.017000	0.16124|0.16124	0.277000|0.277000	0.26821|0.26821	-1.663000|-1.663000	0.01968|0.01968	0.036000|0.036000	0.15547|0.15547	0.313000|0.313000	0.20887|0.20887	GAC|GGA		0.697	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		3	4	0	0	0	1	0	3	4					T	79094371	C	T	79094371	3	4	435	1	0	0	0	0	1	0	0	0	26	855	30	3	775	3	AATK	17	79094371	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16556	79094371	2100839	7665	28590											
C17orf56	146705	broad.mit.edu	37	chr17	79202784	79202784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaggaggctctttggctgCtgtcctctgggacgatgttt	4	13	14	10	1	2	0	0	0	2	0	3	3	3	2	2	4	1	4	2	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79202784C>T	ENST00000300714.3	-	12	1579	c.1522G>A	c.(1522-1524)Gca>Aca	p.A508T	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_Missense_Mutation_p.A424T|AC027601.1_ENST00000569559.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	508						cytoplasmic vesicle (GO:0031410)											TCTTTGGCTGCTGTCCTCTGG	0.667																																						ENST00000374769.2																			0											c.(1270-1272)Gca>Aca		ENTH domain containing 2							33	38	36					17																	79202784		2203	4299	6502	SO:0001583	missense	146705							g.chr17:79202784C>T	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 56"	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.1522G>A	17.37:g.79202784C>T	ENSP00000300714:p.Ala508Thr					AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000300714.3_Missense_Mutation_p.A508T	p.A424T							13	1747	-								Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	ENST00000300714.3	37	c.1270G>A	CCDS11779.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271022	0.23221	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T;T	0.78364	-1.17;-1.17	3.31	1.05	0.20165	.	1.167580	0.06429	N	0.723704	T	0.62708	0.2450	L	0.41236	1.265	0.09310	N	1	B;B	0.22541	0.022;0.071	B;B	0.20184	0.005;0.028	T	0.47947	-0.9077	10	0.02654	T	1	-1.1842	4.4237	0.11493	0.0:0.6534:0.0:0.3466	.	508;424	Q96N21;Q96N21-2	CQ056_HUMAN;.	T	508;424	ENSP00000300714:A508T;ENSP00000363901:A424T	ENSP00000300714:A508T	A	-	1	0	C17orf56	76817379	0.000000	0.05858	0.001000	0.08648	0.192000	0.23643	-0.090000	0.11163	0.598000	0.29829	0.543000	0.68304	GCA		0.667	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		14	12	0	0	0	1	0	14	12					T	79202784	C	T	79202784	3	4	435	1	0	0	0	0	1	0	0	0	1864	797	28	3	59	3	C17orf56	17	79202784	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	108413	79202784	1992426	7666	28591											
C17orf56	146705	broad.mit.edu	37	chr17	79204366	79204366	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtggccttgttggtcacaGgtcccgggctgcccatgctg	3	11	15	12	1	1	0	1	0	0	0	2	0	2	0	3	5	2	3	3	5	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79204366G>T	ENST00000300714.3	-	11	1064	c.1007C>A	c.(1006-1008)cCt>cAt	p.P336H	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_Missense_Mutation_p.P252H|AC027601.1_ENST00000569559.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	336						cytoplasmic vesicle (GO:0031410)											GTTGGTCACAGGTCCCGGGCT	0.697											OREG0024811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374769.2																			0											c.(754-756)cCt>cAt		ENTH domain containing 2							30	29	29					17																	79204366		2202	4300	6502	SO:0001583	missense	146705							g.chr17:79204366G>T	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 56"	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.1007C>A	17.37:g.79204366G>T	ENSP00000300714:p.Pro336His		OREG0024811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1189	AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000300714.3_Missense_Mutation_p.P336H	p.P252H							12	1232	-								Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	ENST00000300714.3	37	c.755C>A	CCDS11779.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709472	0.89018	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T;T	0.65178	-0.14;-0.14	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.78710	0.4326	M	0.71581	2.175	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81022	-0.1121	10	0.87932	D	0	-18.7101	16.7742	0.85546	0.0:0.0:1.0:0.0	.	336;252	Q96N21;Q96N21-2	CQ056_HUMAN;.	H	336;252	ENSP00000300714:P336H;ENSP00000363901:P252H	ENSP00000300714:P336H	P	-	2	0	C17orf56	76818961	1.000000	0.71417	0.864000	0.33941	0.874000	0.50279	8.413000	0.90235	2.479000	0.83701	0.555000	0.69702	CCT		0.697	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		16	16	1	0	1.5739e-10	1	1.6844e-10	16	16					T	79204366	G	T	79204366	3	4	435	1	0	0	0	0	1	0	0	0	1864	1000	35	5	578	5	C17orf56	17	79204366	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1582	79204366	1990844	7667	28592											
SLC38A10	124565	broad.mit.edu	37	chr17	79226449	79226449	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgaggaacaggaggctcGtggcggtgggcctcgcccac	6	6	17	12	4	0	1	0	1	0	0	3	3	0	3	2	6	1	1	2	6	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79226449G>A	ENST00000374759.3	-	13	1874	c.1491C>T	c.(1489-1491)caC>caT	p.H497H	SLC38A10_ENST00000288439.5_Silent_p.H497H	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	497					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CAGGAGGCTCGTGGCGGTGGG	0.622																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1489-1491)caC>caT		solute carrier family 38, member 10							60	50	53					17																	79226449		2200	4295	6495	SO:0001819	synonymous_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79226449G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1491C>T	17.37:g.79226449G>A						SLC38A10_ENST00000288439.5_Silent_p.H497H	p.H497H	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		13	1874	-	all_neural(118;0.0804)|Melanoma(429;0.242)		497					Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	c.1491C>T	CCDS42397.1																																																																																				0.622	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		26	24	0	0	0	1	0	26	24					A	79226449	G	A	79226449	2	1	435	1	0	0	0	0	0	0	0	1	14602	1136	40	1		1	SLC38A10	17	79226449	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22083	79226449	1968761	7668	28593											
BAHCC1	57597	broad.mit.edu	37	chr17	79405428	79405428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagattttcggggagtctgGcatccaccttcctacccgtg	6	11	10	14	2	1	1	0	0	1	1	4	2	3	2	5	3	1	1	5	3	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79405428G>A	ENST00000307745.7	+	8	391	c.391G>A	c.(391-393)Gca>Aca	p.A131T																								GGGGAGTCTGGCATCCACCTT	0.582																																						ENST00000307745.7																			0											c.(391-393)Gca>Aca									53	53	53					17																	79405428		2026	4185	6211	SO:0001583	missense	0							g.chr17:79405428G>A																												ENST00000307745.7:c.391G>A	17.37:g.79405428G>A	ENSP00000303486:p.Ala131Thr						p.A131T							8	391	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.391G>A		.	.	.	.	.	.	.	.	.	.	G	29.1	4.980072	0.92982	.	.	ENSG00000171282	ENST00000307745	T	0.15834	2.39	3.87	3.87	0.44632	.	.	.	.	.	T	0.35682	0.0940	L	0.51422	1.61	0.49582	D	0.9998	D	0.89917	1.0	D	0.80764	0.994	T	0.15925	-1.0420	9	0.59425	D	0.04	.	15.6117	0.76727	0.0:0.0:1.0:0.0	.	131	Q9P281	BAHC1_HUMAN	T	131	ENSP00000303486:A131T	ENSP00000303486:A131T	A	+	1	0	AC110285.1	77020023	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.933000	0.75874	1.990000	0.58119	0.491000	0.48974	GCA		0.582	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				10	10	0	0	0	1	0	10	10					A	79405428	G	A	79405428	3	1	435	1	0	0	0	0	1	0	0	0	1296	1203	42	3	236	3	BAHCC1	17	79405428	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	178979	79405428	1789782	7669	28594											
BAHCC1	57597	broad.mit.edu	37	chr17	79409833	79409833	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccccggactccctaaaagCggtctggacaaaagcggcta	11	7	10	13	3	1	0	0	0	1	0	3	2	3	2	3	4	2	1	3	4	5	3	rs546281324		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79409833C>T	ENST00000307745.7	+	9	1458	c.1458C>T	c.(1456-1458)agC>agT	p.S486S																								TCCCTAAAAGCGGTCTGGACA	0.677													c|||	1	0.000199681	8e-04	0	5008	,	,		15658	0		0	False		,,,				2504	0					ENST00000307745.7																			0											c.(1456-1458)agC>agT									25	28	27					17																	79409833		1893	4111	6004	SO:0001819	synonymous_variant	0							g.chr17:79409833C>T																												ENST00000307745.7:c.1458C>T	17.37:g.79409833C>T							p.S486S							9	1458	+									Silent	SNP	ENST00000307745.7	37	c.1458C>T																																																																																					0.677	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				5	16	0	0	0	1	0	5	16					T	79409833	C	T	79409833	2	4	435	1	0	0	0	0	0	0	0	1	1296	767	27	1		1	BAHCC1	17	79409833	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4405	79409833	1785377	7670	28595											
FSCN2	25794	broad.mit.edu	37	chr17	79496288	79496288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaggccggccgaaacaCgcgacctggcaaggatgagc	11	3	13	14	4	1	1	1	1	0	0	1	4	1	2	4	4	2	1	4	4	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79496288C>T	ENST00000417245.2	+	1	867	c.731C>T	c.(730-732)aCg>aTg	p.T244M	RP13-766D20.2_ENST00000430912.1_RNA|FSCN2_ENST00000334850.7_Missense_Mutation_p.T244M|RP13-766D20.2_ENST00000442532.1_RNA	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	244					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGCCGAAACACGCGACCTGGC	0.647																																						ENST00000417245.2																			0				endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4						c.(730-732)aCg>aTg		fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)							13	16	15					17																	79496288		2150	4215	6365	SO:0001583	missense	25794				actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging	g.chr17:79496288C>T	AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"Fascins"	3960	protein-coding gene	gene with protein product		607643	"fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)", "fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.731C>T	17.37:g.79496288C>T	ENSP00000388716:p.Thr244Met					FSCN2_ENST00000334850.7_Missense_Mutation_p.T244M	p.T244M	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		1	867	+	all_neural(118;0.0878)|Melanoma(429;0.242)		244					A0AVC4|A8MRA6	Missense_Mutation	SNP	ENST00000417245.2	37	c.731C>T	CCDS45811.1	.	.	.	.	.	.	.	.	.	.	C	9.072	0.997167	0.19043	.	.	ENSG00000186765	ENST00000417245;ENST00000334850	T;T	0.33654	1.4;1.4	4.65	3.4	0.38934	Fascin domain (1);Actin cross-linking (1);	0.064324	0.64402	D	0.000005	T	0.43077	0.1231	L	0.46157	1.445	0.38583	D	0.950227	P;D	0.65815	0.663;0.995	B;P	0.55713	0.128;0.782	T	0.44283	-0.9338	10	0.59425	D	0.04	-8.8212	10.1291	0.42667	0.0:0.8769:0.0:0.1231	.	244;244	O14926;A8MRA6	FSCN2_HUMAN;.	M	244	ENSP00000388716:T244M;ENSP00000334665:T244M	ENSP00000334665:T244M	T	+	2	0	FSCN2	77110883	1.000000	0.71417	0.019000	0.16419	0.072000	0.16883	5.574000	0.67424	0.931000	0.37242	0.460000	0.39030	ACG		0.647	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418		8	10	0	0	0	1	0	8	10					T	79496288	C	T	79496288	3	4	435	1	0	0	0	0	1	0	0	0	6068	536	19	1	733	1	FSCN2	17	79496288	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	86455	79496288	1698922	7671	28596											
C17orf70	80233	broad.mit.edu	37	chr17	79514341	79514341	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgggcaggtcgagcccgccGttctcaccagggcccagggg	6	4	16	15	4	1	0	1	0	1	0	3	1	1	0	4	5	1	2	4	5	0	1	rs567185509		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79514341G>A	ENST00000327787.8	-	5	1813	c.1767C>T	c.(1765-1767)aaC>aaT	p.N589N	C17orf70_ENST00000537152.1_Silent_p.N438N|C17orf70_ENST00000425898.2_Silent_p.N238N			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	589					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)			CGAGCCCGCCGTTCTCACCAG	0.697																																						ENST00000537152.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1312-1314)aaC>aaT		chromosome 17 open reading frame 70							32	33	33					17																	79514341		2199	4288	6487	SO:0001819	synonymous_variant	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79514341G>A	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1767C>T	17.37:g.79514341G>A						C17orf70_ENST00000327787.8_Silent_p.N589N|C17orf70_ENST00000425898.2_Silent_p.N238N	p.N438N	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		5	1839	-	all_neural(118;0.0878)|Melanoma(429;0.242)		589					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Silent	SNP	ENST00000327787.8	37	c.1314C>T	CCDS32765.2																																																																																				0.697	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		18	23	0	0	0	1	0	18	23					A	79514341	G	A	79514341	2	1	435	1	0	0	0	0	0	0	0	1	1877	1136	40	1		1	C17orf70	17	79514341	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18053	79514341	1680869	7672	28597											
NPLOC4	55666	broad.mit.edu	37	chr17	79536061	79536061	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtctcacccaatacaTcccggttttcaataggaaat	11	12	6	12	1	2	0	2	0	1	0	4	1	3	1	3	2	1	1	3	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79536061T>C	ENST00000331134.6	-	14	1645	c.1430A>G	c.(1429-1431)gAt>gGt	p.D477G	NPLOC4_ENST00000572760.1_5'Flank|NPLOC4_ENST00000573876.1_5'Flank|NPLOC4_ENST00000539314.1_Missense_Mutation_p.D316G|NPLOC4_ENST00000374747.5_Missense_Mutation_p.D477G	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	477					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ACCCAATACATCCCGGTTTTC	0.358																																						ENST00000374747.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.(1429-1431)gAt>gGt		nuclear protein localization 4 homolog (S. cerevisiae)							97	95	96					17																	79536061		1859	4099	5958	SO:0001583	missense	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79536061T>C	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1430A>G	17.37:g.79536061T>C	ENSP00000331487:p.Asp477Gly					NPLOC4_ENST00000539314.1_Missense_Mutation_p.D316G|NPLOC4_ENST00000331134.6_Missense_Mutation_p.D477G	p.D477G			Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		14	1559	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		477					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	c.1430A>G	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.434943	0.62955	.	.	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.63	5.63	0.86233	Nuclear pore localisation protein NPL4 (1);	0.044283	0.85682	D	0.000000	T	0.62938	0.2469	M	0.61703	1.905	0.80722	D	1	B;B;B	0.29646	0.156;0.213;0.253	B;B;B	0.36030	0.216;0.108;0.173	T	0.59568	-0.7430	9	0.24483	T	0.36	-29.278	14.8257	0.70110	0.0:0.0:0.0:1.0	.	316;477;477	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	G	477;476;316	.	ENSP00000331487:D477G	D	-	2	0	NPLOC4	77146498	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.800000	0.69108	2.152000	0.67230	0.460000	0.39030	GAT		0.358	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			15	26	0	0	0	1	0	15	26					C	79536061	T	C	79536061	3	2	435	1	0	0	0	0	1	0	0	0	10586	1435	50	4	412	4	NPLOC4	17	79536061	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	21720	79536061	1659149	7673	28598											
HGS	9146	broad.mit.edu	37	chr17	79657240	79657240	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttccagaattcaaagagagCgatgccatgtttgctgccga	11	11	10	9	2	1	2	1	0	0	2	2	5	2	2	3	0	4	2	3	0	2	3	rs577221125		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79657240C>T	ENST00000329138.4	+	6	579	c.444C>T	c.(442-444)agC>agT	p.S148S		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	148					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			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)			TCAAAGAGAGCGATGCCATGT	0.622																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(442-444)agC>agT		hepatocyte growth factor-regulated tyrosine kinase substrate							120	107	111					17																	79657240		2203	4300	6503	SO:0001819	synonymous_variant	9146				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	g.chr17:79657240C>T	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.444C>T	17.37:g.79657240C>T							p.S148S	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		6	579	+	all_neural(118;0.0878)|all_lung(278;0.23)		148					Q9NR36	Silent	SNP	ENST00000329138.4	37	c.444C>T	CCDS11784.1																																																																																				0.622	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		25	28	0	0	0	1	0	25	28					T	79657240	C	T	79657240	2	4	435	1	0	0	0	0	0	0	0	1	7087	767	27	1		1	HGS	17	79657240	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	121179	79657240	1537970	7674	28599											
HGS	9146	broad.mit.edu	37	chr17	79663968	79663968	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctccccaatgcacggcgtgTacatgagccagccggcccct	7	6	11	17	3	0	1	0	1	0	0	1	1	1	1	6	2	4	3	6	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79663968T>C	ENST00000329138.4	+	18	1957	c.1822T>C	c.(1822-1824)Tac>Cac	p.Y608H		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	608	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			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)			GCACGGCGTGTACATGAGCCA	0.687																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1822-1824)Tac>Cac		hepatocyte growth factor-regulated tyrosine kinase substrate							27	33	31					17																	79663968		2198	4289	6487	SO:0001583	missense	9146				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	g.chr17:79663968T>C	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1822T>C	17.37:g.79663968T>C	ENSP00000331201:p.Tyr608His						p.Y608H	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		18	1957	+	all_neural(118;0.0878)|all_lung(278;0.23)		608			Gln-rich.|Interaction with NF2.		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	c.1822T>C	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.208220	0.39003	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.39787	1.06	4.31	3.18	0.36537	.	0.556398	0.19424	N	0.114627	T	0.42381	0.1200	M	0.64997	1.995	0.47737	D	0.999508	P	0.36330	0.548	B	0.43052	0.406	T	0.11446	-1.0587	10	0.17369	T	0.5	-16.0449	9.1163	0.36760	0.1639:0.0:0.0:0.8361	.	608	O14964	HGS_HUMAN	H	608;522	ENSP00000331201:Y608H	ENSP00000331201:Y608H	Y	+	1	0	HGS	77274373	1.000000	0.71417	0.090000	0.20809	0.148000	0.21650	7.236000	0.78154	0.640000	0.30582	0.523000	0.50628	TAC		0.687	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		13	26	0	0	0	1	0	13	26					C	79663968	T	C	79663968	3	2	435	1	0	0	0	0	1	0	0	0	7087	1638	57	4	1892	4	HGS	17	79663968	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	6728	79663968	1531242	7675	28600											
HGS	9146	broad.mit.edu	37	chr17	79667775	79667775	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggccatctctcagcctccGcagtccagcaccatgggcta	7	7	9	18	2	2	0	1	0	1	0	5	0	4	0	6	2	2	3	6	2	1	1	rs372082555		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79667775G>A	ENST00000329138.4	+	20	2202	c.2067G>A	c.(2065-2067)ccG>ccA	p.P689P	RP13-1032I1.7_ENST00000575312.1_RNA|MRPL12_ENST00000333676.3_5'Flank|SLC25A10_ENST00000541223.1_5'Flank|SLC25A10_ENST00000571730.1_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	689	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			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)			CTCAGCCTCCGCAGTCCAGCA	0.662																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(2065-2067)ccG>ccA		hepatocyte growth factor-regulated tyrosine kinase substrate		G		1,4405	2.1+/-5.4	0,1,2202	36	35	36		2067	-5.4	0	17		36	0,8600		0,0,4300	no	coding-synonymous	HGS	NM_004712.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		689/778	79667775	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9146				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	g.chr17:79667775G>A	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.2067G>A	17.37:g.79667775G>A							p.P689P	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		20	2202	+	all_neural(118;0.0878)|all_lung(278;0.23)		689			Gln-rich.|Interaction with NF2.		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.2067G>A	CCDS11784.1																																																																																				0.662	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		8	18	0	0	0	1	0	8	18					A	79667775	G	A	79667775	2	1	435	1	0	0	0	0	0	0	0	1	7087	1074	38	1		1	HGS	17	79667775	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3807	79667775	1527435	7676	28601											
SLC25A10	1468	broad.mit.edu	37	chr17	79682084	79682084	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactctacagcggcctgagCgcctcgctgtgcagacaggt	7	7	13	14	3	1	2	0	1	1	1	2	2	1	2	2	2	4	3	2	2	1	1	rs201255090	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79682084C>T	ENST00000350690.5	+	2	281	c.195C>T	c.(193-195)agC>agT	p.S65S	SLC25A10_ENST00000331531.5_Silent_p.S65S|SLC25A10_ENST00000541223.1_Silent_p.S220S|SLC25A10_ENST00000571730.1_Silent_p.S220S|SLC25A10_ENST00000545862.1_Silent_p.S22S	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	65					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	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)	GCGGCCTGAGCGCCTCGCTGT	0.647													C|||	4	0.000798722	0.003	0	5008	,	,		19740	0		0	False		,,,				2504	0					ENST00000331531.5																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(193-195)agC>agT		solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	Succinic acid(DB00139)	C		6,4388	11.4+/-27.6	0,6,2191	52	36	41		195	-3.9	1	17		41	0,8598		0,0,4299	no	coding-synonymous	SLC25A10	NM_012140.3		0,6,6490	TT,TC,CC		0.0,0.1365,0.0462		65/288	79682084	6,12986	2197	4299	6496	SO:0001819	synonymous_variant	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79682084C>T		CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"Solute carriers"	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.195C>T	17.37:g.79682084C>T						SLC25A10_ENST00000571730.1_Silent_p.S220S|SLC25A10_ENST00000350690.5_Silent_p.S65S|SLC25A10_ENST00000545862.1_Silent_p.S22S|SLC25A10_ENST00000541223.1_Silent_p.S220S	p.S65S	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		2	315	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		65					Q542Z3|Q96BA1|Q96IP1	Silent	SNP	ENST00000350690.5	37	c.195C>T	CCDS11786.1																																																																																				0.647	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1			3	14	0	0	0	1	0	3	14					T	79682084	C	T	79682084	2	4	435	1	0	0	0	0	0	0	0	1	14472	767	27	1		1	SLC25A10	17	79682084	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14309	79682084	1513126	7677	28602											
DYSFIP1	116729	broad.mit.edu	37	chr17	79792477	79792477	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccccgtatttgaccagcagCttcacgcattccaggtttcc	7	11	8	15	2	1	1	1	1	0	0	3	1	3	1	5	1	2	5	5	1	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79792477C>T	ENST00000330261.4	-	2	322	c.243G>A	c.(241-243)aaG>aaA	p.K81K	FAM195B_ENST00000455127.2_5'Flank|FAM195B_ENST00000573478.1_5'Flank|PPP1R27_ENST00000573182.1_5'Flank|FAM195B_ENST00000576431.1_5'Flank|FAM195B_ENST00000572645.1_5'Flank|FAM195B_ENST00000538396.1_5'Flank|FAM195B_ENST00000575061.1_5'Flank|PPP1R27_ENST00000570394.1_Silent_p.K81K	NM_001007533.3	NP_001007534.1	Q86WC6	PPR27_HUMAN	protein phosphatase 1, regulatory subunit 27	81					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TGACCAGCAGCTTCACGCATT	0.622																																						ENST00000570394.1																			0											c.(241-243)aaG>aaA		protein phosphatase 1, regulatory subunit 27							167	131	143					17																	79792477		2203	4300	6503	SO:0001819	synonymous_variant	116729							g.chr17:79792477C>T	AF434846	CCDS32767.1	17q25.3	2013-01-10	2011-10-11	2011-10-11	ENSG00000182676	ENSG00000182676		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	16813	protein-coding gene	gene with protein product			"dysferlin-interacting protein 1 (toonin)", "dysferlin interacting protein 1 (toonin)", "dysferlin interacting protein 1"	DYSFIP1			Standard	NM_001007533		Approved	toonin	uc002kbj.1	Q86WC6		ENST00000330261.4:c.243G>A	17.37:g.79792477C>T						PPP1R27_ENST00000330261.4_Silent_p.K81K	p.K81K			Q86WC6	DYSI1_HUMAN			2	339	-			81						Silent	SNP	ENST00000330261.4	37	c.243G>A	CCDS32767.1																																																																																				0.622	PPP1R27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439692.1	NM_001007533		19	27	0	0	0	1	0	19	27					T	79792477	C	T	79792477	2	4	435	1	0	0	0	0	0	0	0	1	4860	796	28	3		3	DYSFIP1	17	79792477	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	110393	79792477	1402733	7678	28603											
P4HB	5034	broad.mit.edu	37	chr17	79803786	79803786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttctcatcaaaagccaCgtcttcaaagttcttcccaa	11	15	3	12	1	5	0	3	0	3	0	7	0	6	0	2	0	1	1	2	0	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79803786C>T	ENST00000331483.4	-	8	1360	c.1138G>A	c.(1138-1140)Gtg>Atg	p.V380M	P4HB_ENST00000439918.2_Missense_Mutation_p.V336M|RP11-498C9.2_ENST00000576784.1_RNA|P4HB_ENST00000472244.1_5'Flank|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	380	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCAAAAGCCACGTCTTCAAAG	0.572																																					Colon(49;444 983 1296 7887 42561)	ENST00000331483.4																			0				NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22						c.(1138-1140)Gtg>Atg		prolyl 4-hydroxylase, beta polypeptide							68	64	66					17																	79803786		2203	4300	6503	SO:0001583	missense	5034				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	g.chr17:79803786C>T	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"Protein disulfide isomerases"	8548	protein-coding gene	gene with protein product	"protein disulfide isomerase-associated 1", "protein disulfide isomerase family A, member 1", "collagen prolyl 4-hydroxylase beta"	176790	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.1138G>A	17.37:g.79803786C>T	ENSP00000327801:p.Val380Met					P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Missense_Mutation_p.V336M	p.V380M	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		8	1360	-	all_neural(118;0.0878)|Ovarian(332;0.12)		380			Thioredoxin 2.		B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	ENST00000331483.4	37	c.1138G>A	CCDS11787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.19|17.19	3.325659|3.325659	0.60743|0.60743	.|.	.|.	ENSG00000185624|ENSG00000185624	ENST00000415593;ENST00000439918|ENST00000331483;ENST00000537205;ENST00000436463	.|T	.|0.03468	.|3.92	5.89|5.89	4.92|4.92	0.64577|0.64577	.|Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	.|0.057391	.|0.64402	.|D	.|0.000002	T|T	0.13628|0.13628	0.0330|0.0330	L|L	0.49455|0.49455	1.56|1.56	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.73380	.|0.98	T|T	0.00525|0.00525	-1.1689|-1.1689	5|10	.|0.87932	.|D	.|0	.|.	14.8828|14.8828	0.70545|0.70545	0.0:0.9311:0.0:0.0689|0.0:0.9311:0.0:0.0689	.|.	.|380	.|P07237	.|PDIA1_HUMAN	H|M	145;166|380;323;364	.|ENSP00000327801:V380M	.|ENSP00000327801:V380M	R|V	-|-	2|1	0|0	P4HB|P4HB	77397075|77397075	0.998000|0.998000	0.40836|0.40836	0.972000|0.972000	0.41901|0.41901	0.489000|0.489000	0.33432|0.33432	3.116000|3.116000	0.50399|0.50399	1.491000|1.491000	0.48482|0.48482	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.572	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		12	14	0	0	0	1	0	12	14					T	79803786	C	T	79803786	3	4	435	1	0	0	0	0	1	0	0	0	11359	536	19	1	404	1	P4HB	17	79803786	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11309	79803786	1391424	7679	28604											
PYCR1	5831	broad.mit.edu	37	chr17	79892848	79892848	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgacggcatcaatcaggTcctcttccacctccgtgcag	7	9	9	16	3	3	1	2	1	1	0	6	1	6	1	5	2	1	2	5	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79892848T>A	ENST00000329875.8	-	4	558	c.494A>T	c.(493-495)gAc>gTc	p.D165V	RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000402252.2_Missense_Mutation_p.D192V|PYCR1_ENST00000337943.5_Missense_Mutation_p.D165V|PYCR1_ENST00000403172.4_Missense_Mutation_p.D165V|PYCR1_ENST00000577756.1_Missense_Mutation_p.D165V	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	165					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	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)	ATCAATCAGGTCCTCTTCCAC	0.697																																						ENST00000337943.5																			0				endometrium(2)|kidney(1)|lung(1)|prostate(1)	5						c.(493-495)gAc>gTc		pyrroline-5-carboxylate reductase 1	L-Proline(DB00172)|NADH(DB00157)						50	42	45					17																	79892848		2203	4299	6502	SO:0001583	missense	5831				cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity	g.chr17:79892848T>A		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.494A>T	17.37:g.79892848T>A	ENSP00000328858:p.Asp165Val					PYCR1_ENST00000577756.1_Missense_Mutation_p.D165V|PYCR1_ENST00000329875.8_Missense_Mutation_p.D165V|PYCR1_ENST00000402252.2_Missense_Mutation_p.D192V|PYCR1_ENST00000403172.4_Missense_Mutation_p.D165V	p.D165V	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		4	936	-	all_neural(118;0.0878)|Ovarian(332;0.12)		165					A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Missense_Mutation	SNP	ENST00000329875.8	37	c.494A>T	CCDS11795.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.671469	0.47781	.	.	ENSG00000183010	ENST00000337943;ENST00000329875;ENST00000403172;ENST00000402252;ENST00000405481	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	4.13	4.13	0.48395	6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.83880	0.5350	L	0.36672	1.1	0.80722	D	1	P;B;B;P;B;B;P	0.50066	0.609;0.056;0.056;0.931;0.056;0.007;0.699	B;B;B;P;B;B;B	0.52309	0.067;0.016;0.036;0.695;0.036;0.007;0.338	D	0.83516	0.0083	10	0.41790	T	0.15	.	12.85	0.57852	0.0:0.0:0.0:1.0	.	137;192;165;165;165;165;165	B7Z8T1;B4DMU0;E7D7X9;Q9HBQ4;P32322;E7D7Y0;A6NFM2	.;.;.;.;P5CR1_HUMAN;.;.	V	165;165;165;192;137	ENSP00000336579:D165V;ENSP00000328858:D165V;ENSP00000385483:D165V;ENSP00000384949:D192V	ENSP00000328858:D165V	D	-	2	0	PYCR1	77486139	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.967000	0.70403	1.523000	0.49018	0.454000	0.30748	GAC		0.697	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1			7	23	0	0	0	1	0	7	23					A	79892848	T	A	79892848	3	1	435	1	0	0	0	0	1	0	0	0	12855	1667	58	5	569	5	PYCR1	17	79892848	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	89062	79892848	1302362	7680	28605											
ASPSCR1	79058	broad.mit.edu	37	chr17	79941442	79941442	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttgcaggtttcagaggagCgtgctcgacctttctctcca	6	13	10	12	2	3	1	1	0	2	1	6	3	4	2	2	2	3	3	2	2	0	3	rs202095235		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79941442C>T	ENST00000306739.4	+	3	268	c.171C>T	c.(169-171)agC>agT	p.S57S	ASPSCR1_ENST00000306729.7_Silent_p.S57S|ASPSCR1_ENST00000581647.1_Silent_p.S57S|ASPSCR1_ENST00000580534.1_5'UTR	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	57					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			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)			TTCAGAGGAGCGTGCTCGACC	0.622			T	TFE3	alveolar soft part sarcoma								C|||	1	0.000199681	0	0	5008	,	,		12751	0		0.001	False		,,,				2504	0					ENST00000306729.7				Dom	yes		17	17q25	79058	T	"alveolar soft part sarcoma chromosome region, candidate 1"			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(167)	0				breast(2)|large_intestine(2)	4						c.(169-171)agC>agT		alveolar soft part sarcoma chromosome region, candidate 1							98	79	85					17																	79941442		2203	4300	6503	SO:0001819	synonymous_variant	79058						protein binding	g.chr17:79941442C>T	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"UBX domain containing"	13825	protein-coding gene	gene with protein product	"UBX domain protein 9"	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.171C>T	17.37:g.79941442C>T						ASPSCR1_ENST00000306739.4_Silent_p.S57S|ASPSCR1_ENST00000581647.1_Silent_p.S57S|ASPSCR1_ENST00000580534.1_5'UTR	p.S57S	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		3	268	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		57					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Silent	SNP	ENST00000306739.4	37	c.171C>T	CCDS11796.1																																																																																				0.622	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		7	14	0	0	0	1	0	7	14					T	79941442	C	T	79941442	2	4	435	1	0	0	0	0	0	0	0	1	1059	767	27	1		1	ASPSCR1	17	79941442	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	48594	79941442	1253768	7681	28606											
RAC3	5881	broad.mit.edu	37	chr17	79991650	79991650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgacgaggcgatccgcgCggtgctctgcccgcccccag	4	7	14	16	6	1	1	0	1	1	0	2	3	2	1	4	2	2	2	4	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79991650C>T	ENST00000306897.4	+	6	662	c.524C>T	c.(523-525)gCg>gTg	p.A175V	DCXR_ENST00000584318.1_5'Flank	NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	175					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCGATCCGCGCGGTGCTCTGC	0.662																																						ENST00000306897.4																			0				NS(1)|kidney(1)|skin(1)	3						c.(523-525)gCg>gTg		ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)							43	38	40					17																	79991650		2199	4299	6498	SO:0001583	missense	5881				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	g.chr17:79991650C>T	AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"Endogenous ligands"	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.524C>T	17.37:g.79991650C>T	ENSP00000304283:p.Ala175Val						p.A175V	NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		6	662	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		175					O14658|Q5U0M8	Missense_Mutation	SNP	ENST00000306897.4	37	c.524C>T	CCDS11798.1	.	.	.	.	.	.	.	.	.	.	c	12.94	2.087375	0.36855	.	.	ENSG00000169750	ENST00000306897	T	0.77358	-1.09	3.74	2.75	0.32379	.	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	L	0.31476	0.935	0.80722	D	1	B	0.20164	0.042	B	0.24701	0.055	T	0.56456	-0.7976	9	.	.	.	.	12.4514	0.55679	0.1693:0.8307:0.0:0.0	.	175	P60763	RAC3_HUMAN	V	175	ENSP00000304283:A175V	.	A	+	2	0	RAC3	77584939	1.000000	0.71417	0.058000	0.19502	0.153000	0.21895	5.789000	0.69029	0.753000	0.32945	0.586000	0.80456	GCG		0.662	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1			10	8	0	0	0	1	0	10	8					T	79991650	C	T	79991650	3	4	435	1	0	0	0	0	1	0	0	0	12976	768	27	1	546	1	RAC3	17	79991650	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	50208	79991650	1203560	7682	28607											
DCXR	51181	broad.mit.edu	37	chr17	79993888	79993888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtggaacccgtggtcatgCcacttcggtcactcagcaga	10	8	11	12	2	3	1	3	0	0	1	4	2	3	2	2	3	3	1	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79993888C>T	ENST00000306869.2	-	8	732	c.683G>A	c.(682-684)gGc>gAc	p.G228D	DCXR_ENST00000584318.1_5'Flank|RP13-650J16.1_ENST00000582558.1_RNA|RP13-650J16.1_ENST00000584705.1_RNA	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	228					D-xylose metabolic process (GO:0042732)|glucose metabolic process (GO:0006006)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|xylulose metabolic process (GO:0005997)	brush border (GO:0005903)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)	L-xylulose reductase (NADP+) activity (GO:0050038)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)	p.G228D(1)		kidney(1)|lung(3)	4	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;0.0191)			CGTGGTCATGCCACTTCGGTC	0.642																																						ENST00000306869.2																			1	Substitution - Missense(1)	p.G228D(1)	kidney(1)	kidney(1)|lung(3)	4						c.(682-684)gGc>gAc		dicarbonyl/L-xylulose reductase							72	60	64					17																	79993888		2203	4300	6503	SO:0001583	missense	51181				D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity	g.chr17:79993888C>T	AB013846	CCDS11799.1	17q25.3	2011-09-14				ENSG00000169738	1.1.1.10	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 20C, member 1"	608347				11882650, 19027726	Standard	NM_016286		Approved	KIDCR, DCR, SDR20C1	uc002kdg.3	Q7Z4W1		ENST00000306869.2:c.683G>A	17.37:g.79993888C>T	ENSP00000303356:p.Gly228Asp						p.G228D	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		8	732	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		228					Q9BTZ3|Q9UHY9	Missense_Mutation	SNP	ENST00000306869.2	37	c.683G>A	CCDS11799.1	.	.	.	.	.	.	.	.	.	.	C	6.578	0.474933	0.12521	.	.	ENSG00000169738	ENST00000306869	T	0.21932	1.98	4.74	-0.241	0.13043	NAD(P)-binding domain (1);	1.049970	0.07423	N	0.894398	T	0.15869	0.0382	N	0.17345	0.48	0.28103	N	0.931316	B	0.17038	0.02	B	0.19666	0.026	T	0.32877	-0.9890	9	.	.	.	.	17.8393	0.88710	0.0:0.2373:0.7627:0.0	.	228	Q7Z4W1	DCXR_HUMAN	D	228	ENSP00000303356:G228D	.	G	-	2	0	DCXR	77587177	0.937000	0.31787	0.034000	0.17996	0.116000	0.19942	1.522000	0.35921	0.157000	0.19338	0.655000	0.94253	GGC		0.642	DCXR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442153.2			36	41	0	0	0	1	0	36	41					T	79993888	C	T	79993888	3	4	435	1	0	0	0	0	1	0	0	0	4319	739	26	3	55	3	DCXR	17	79993888	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2238	79993888	1201322	7683	28608											
DUS1L	64118	broad.mit.edu	37	chr17	80016226	80016226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccctcacctgggcagtCtgcagtctctttggaggctc	4	10	13	14	1	3	0	1	0	2	0	5	1	3	1	2	4	1	3	2	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80016226C>A	ENST00000354321.7	-	12	1758	c.1273G>T	c.(1273-1275)Gac>Tac	p.D425Y	DUS1L_ENST00000306796.5_Missense_Mutation_p.D425Y			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	425							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CCTGGGCAGTCTGCAGTCTCT	0.657																																						ENST00000354321.7																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.(1273-1275)Gac>Tac		dihydrouridine synthase 1-like (S. cerevisiae)							74	90	84					17																	80016226		2203	4299	6502	SO:0001583	missense	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80016226C>A		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.1273G>T	17.37:g.80016226C>A	ENSP00000346280:p.Asp425Tyr					DUS1L_ENST00000306796.5_Missense_Mutation_p.D425Y	p.D425Y			Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		12	1758	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		425					A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	37	c.1273G>T	CCDS32775.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.94|12.94	2.089301|2.089301	0.36855|0.36855	.|.	.|.	ENSG00000169718|ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088|ENST00000538833	T;T|.	0.37752|.	1.18;1.18|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73337|0.73337	0.3574|0.3574	M|M	0.83118|0.83118	2.625|2.625	0.80722|0.80722	D|D	1|1	D|B	0.76494|0.26258	0.999|0.145	D|B	0.71184|0.34180	0.972|0.177	T|T	0.73512|0.73512	-0.3959|-0.3959	10|8	0.87932|0.42905	D|T	0|0.14	-33.3273|-33.3273	17.0488|17.0488	0.86513|0.86513	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	425|291	Q6P1R4|Q9BTJ3	DUS1L_HUMAN|.	Y|I	425;425;288|289	ENSP00000346280:D425Y;ENSP00000303515:D425Y|.	ENSP00000303515:D425Y|ENSP00000445110:R289I	D|R	-|-	1|2	0|0	DUS1L|DUS1L	77609515|77609515	1.000000|1.000000	0.71417|0.71417	0.895000|0.895000	0.35142|0.35142	0.201000|0.201000	0.24016|0.24016	6.741000|6.741000	0.74837|0.74837	2.497000|2.497000	0.84241|0.84241	0.563000|0.563000	0.77884|0.77884	GAC|AGA		0.657	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		16	87	1	0	4.7546e-09	1	5.0353e-09	16	87					A	80016226	C	A	80016226	3	1	435	1	0	0	0	0	1	0	0	0	4805	913	32	5	156	5	DUS1L	17	80016226	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	22338	80016226	1178984	7684	28609											
FASN	2194	broad.mit.edu	37	chr17	80044224	80044224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaggccgctgagcagaGggtcctctggcagcttgggc	6	6	17	12	1	1	2	0	1	1	1	2	3	2	3	3	5	2	4	3	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80044224G>T	ENST00000306749.2	-	22	3856	c.3638C>A	c.(3637-3639)cCt>cAt	p.P1213H		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1213					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P1213L(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GCTGAGCAGAGGGTCCTCTGG	0.662																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			1	Substitution - Missense(1)	p.P1213L(1)	lung(1)	central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(3637-3639)cCt>cAt		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						27	24	25					17																	80044224		2186	4293	6479	SO:0001583	missense	2194				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	g.chr17:80044224G>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.3638C>A	17.37:g.80044224G>T	ENSP00000304592:p.Pro1213His						p.P1213H	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		22	3856	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1213					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.3638C>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	2.230	-0.376454	0.05000	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.43294	0.95	4.88	3.81	0.43845	.	0.416754	0.26400	N	0.024588	T	0.32763	0.0840	L	0.29908	0.895	0.42982	D	0.99446	B	0.14012	0.009	B	0.14023	0.01	T	0.14587	-1.0467	10	0.37606	T	0.19	-28.984	15.7664	0.78128	0.0:0.0:0.854:0.146	.	1213	P49327	FAS_HUMAN	H	1213;178	ENSP00000304592:P1213H	ENSP00000304592:P1213H	P	-	2	0	FASN	77637513	1.000000	0.71417	0.945000	0.38365	0.137000	0.21094	3.599000	0.54045	2.245000	0.73994	0.491000	0.48974	CCT		0.662	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		7	9	1	0	3.09899e-07	1	3.24337e-07	7	9					T	80044224	G	T	80044224	3	4	435	1	0	0	0	0	1	0	0	0	5683	1000	35	5	3985	5	FASN	17	80044224	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27998	80044224	1150986	7685	28610											
FASN	2194	broad.mit.edu	37	chr17	80046084	80046084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagggcgcgggccagcGtcttccacactatgctcagg	6	6	14	15	3	2	0	1	0	1	0	3	0	3	0	3	4	2	1	3	4	1	2	rs201967800		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80046084G>A	ENST00000306749.2	-	17	2911	c.2693C>T	c.(2692-2694)aCg>aTg	p.T898M		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	898					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GCGGGCCAGCGTCTTCCACAC	0.657																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(2692-2694)aCg>aTg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						43	55	51					17																	80046084		2197	4298	6495	SO:0001583	missense	2194				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	g.chr17:80046084G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2693C>T	17.37:g.80046084G>A	ENSP00000304592:p.Thr898Met						p.T898M	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		17	2911	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		898					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.2693C>T	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327047	0.41197	.	.	ENSG00000169710	ENST00000306749	D	0.82344	-1.6	4.08	3.11	0.35812	.	0.064275	0.64402	N	0.000009	D	0.84687	0.5527	L	0.49571	1.57	0.58432	D	0.999998	D	0.76494	0.999	P	0.57502	0.822	D	0.83753	0.0210	10	0.45353	T	0.12	-7.8288	11.8927	0.52638	0.0869:0.0:0.9131:0.0	.	898	P49327	FAS_HUMAN	M	898	ENSP00000304592:T898M	ENSP00000304592:T898M	T	-	2	0	FASN	77639373	1.000000	0.71417	0.226000	0.23910	0.128000	0.20619	4.655000	0.61476	0.935000	0.37341	0.462000	0.41574	ACG		0.657	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		17	19	0	0	0	1	0	17	19					A	80046084	G	A	80046084	3	1	435	1	0	0	0	0	1	0	0	0	5683	1145	40	1	4950	1	FASN	17	80046084	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1860	80046084	1149126	7686	28611											
FASN	2194	broad.mit.edu	37	chr17	80046115	80046115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgctcaggtagccagtggCggggaagaggacgcgaccgt	9	6	17	9	4	1	1	1	0	0	1	1	4	1	3	2	5	2	2	2	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80046115C>T	ENST00000306749.2	-	17	2880	c.2662G>A	c.(2662-2664)Gcc>Acc	p.A888T		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	888					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TAGCCAGTGGCGGGGAAGAGG	0.662																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(2662-2664)Gcc>Acc		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						41	56	51					17																	80046115		2200	4291	6491	SO:0001583	missense	2194				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	g.chr17:80046115C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2662G>A	17.37:g.80046115C>T	ENSP00000304592:p.Ala888Thr						p.A888T	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		17	2880	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		888					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.2662G>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651975	0.67472	.	.	ENSG00000169710	ENST00000306749	D	0.82433	-1.61	4.08	4.08	0.47627	.	0.137542	0.47852	D	0.000201	D	0.90448	0.7009	M	0.89414	3.03	0.58432	D	0.999996	D	0.71674	0.998	P	0.56563	0.801	D	0.92852	0.6298	10	0.72032	D	0.01	-12.5043	16.4376	0.83882	0.0:1.0:0.0:0.0	.	888	P49327	FAS_HUMAN	T	888	ENSP00000304592:A888T	ENSP00000304592:A888T	A	-	1	0	FASN	77639404	1.000000	0.71417	0.202000	0.23494	0.039000	0.13416	5.778000	0.68940	2.120000	0.65058	0.462000	0.41574	GCC		0.662	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		8	22	0	0	0	1	0	8	22					T	80046115	C	T	80046115	3	4	435	1	0	0	0	0	1	0	0	0	5683	768	27	1	4981	1	FASN	17	80046115	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31	80046115	1149095	7687	28612											
C17orf101	79701	broad.mit.edu	37	chr17	80364301	80364301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcactcacctgtacaGgttcacaaagtgcttcccga	10	9	8	14	1	2	0	2	0	0	0	3	1	3	0	2	1	4	5	2	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80364301G>T	ENST00000313056.5	-	5	632	c.481C>A	c.(481-483)Ctg>Atg	p.L161M	OGFOD3_ENST00000329197.5_Missense_Mutation_p.L161M	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	161						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|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 (GO:0016706)										CACCTGTACAGGTTCACAAAG	0.567																																						ENST00000313056.5																			0											c.(481-483)Ctg>Atg		2-oxoglutarate and iron-dependent oxygenase domain containing 3							105	89	95					17																	80364301		2203	4300	6503	SO:0001583	missense	79701							g.chr17:80364301G>T	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 101"	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.481C>A	17.37:g.80364301G>T	ENSP00000320116:p.Leu161Met					OGFOD3_ENST00000329197.5_Missense_Mutation_p.L161M	p.L161M	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3					5	632	-								C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	ENST00000313056.5	37	c.481C>A	CCDS11811.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644255	0.47258	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.37915	1.65;1.17	4.7	4.7	0.59300	Prolyl 4-hydroxylase, alpha subunit (1);	0.145172	0.45361	D	0.000370	T	0.30634	0.0771	L	0.45581	1.43	0.43000	D	0.994516	B;B	0.29988	0.068;0.264	B;B	0.27715	0.03;0.082	T	0.10177	-1.0641	10	0.35671	T	0.21	-12.5825	11.806	0.52155	0.0:0.0:0.8244:0.1756	.	161;161	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	M	161	ENSP00000320116:L161M;ENSP00000330075:L161M	ENSP00000320116:L161M	L	-	1	2	C17orf101	77957590	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.468000	0.45102	2.313000	0.78055	0.655000	0.94253	CTG		0.567	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		14	28	1	0	2.32078e-09	1	2.46314e-09	14	28					T	80364301	G	T	80364301	3	4	435	1	0	0	0	0	1	0	0	0	1848	991	35	5	675	5	C17orf101	17	80364301	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	318186	80364301	830909	7688	28613											
NARF	26502	broad.mit.edu	37	chr17	80417915	80417915	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaagagaatgtgtcagcCgatgcaccgagtccagccca	12	5	11	13	2	1	1	1	0	0	1	2	5	2	1	5	0	3	1	5	0	2	0	rs368518853		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80417915C>T	ENST00000309794.11	+	2	273	c.75C>T	c.(73-75)gcC>gcT	p.A25A	NARF_ENST00000457415.3_Silent_p.A25A|RP13-20L14.6_ENST00000579095.1_RNA|NARF_ENST00000390006.4_5'UTR|NARF_ENST00000412079.2_5'UTR|NARF_ENST00000345415.7_Silent_p.A25A|RP13-20L14.6_ENST00000578344.1_RNA|NARF_ENST00000581743.1_3'UTR	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	25						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ATGTGTCAGCCGATGCACCGA	0.408																																						ENST00000309794.10																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(73-75)gcC>gcT		nuclear prelamin A recognition factor		C	,,,	1,4405	2.1+/-5.4	0,1,2202	108	107	107		,75,75,75	-6.6	0	17		107	0,8600		0,0,4300	no	utr-5,coding-synonymous,coding-synonymous,coding-synonymous	NARF	NM_001038618.2,NM_001083608.1,NM_012336.3,NM_031968.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	,25/409,25/457,25/503	80417915	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26502					lamin filament	lamin binding	g.chr17:80417915C>T	BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.75C>T	17.37:g.80417915C>T						NARF_ENST00000581743.1_3'UTR|NARF_ENST00000412079.2_5'UTR|NARF_ENST00000390006.4_5'UTR|NARF_ENST00000457415.3_Silent_p.A25A|NARF_ENST00000345415.7_Silent_p.A25A	p.A25A	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		2	273	+	Breast(20;0.00106)|all_neural(118;0.0804)		25					A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Silent	SNP	ENST00000309794.11	37	c.75C>T	CCDS32777.1																																																																																				0.408	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		19	27	0	0	0	1	0	19	27					T	80417915	C	T	80417915	2	4	435	1	0	0	0	0	0	0	0	1	10167	639	23	2		2	NARF	17	80417915	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	53614	80417915	777295	7689	28614											
NARF	26502	broad.mit.edu	37	chr17	80417933	80417933	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgatgcaccgagtccagcCcaggaaaatggagaggcaag	13	3	14	11	2	0	1	0	0	0	1	1	5	1	2	4	3	2	2	4	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80417933C>T	ENST00000309794.11	+	2	291	c.93C>T	c.(91-93)gcC>gcT	p.A31A	NARF_ENST00000457415.3_Silent_p.A31A|RP13-20L14.6_ENST00000579095.1_RNA|NARF_ENST00000390006.4_5'UTR|NARF_ENST00000412079.2_5'UTR|NARF_ENST00000345415.7_Silent_p.A31A|RP13-20L14.6_ENST00000578344.1_RNA|NARF_ENST00000581743.1_3'UTR	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	31						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CGAGTCCAGCCCAGGAAAATG	0.423																																						ENST00000309794.10																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(91-93)gcC>gcT		nuclear prelamin A recognition factor							106	107	107					17																	80417933		2203	4300	6503	SO:0001819	synonymous_variant	26502					lamin filament	lamin binding	g.chr17:80417933C>T	BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.93C>T	17.37:g.80417933C>T						NARF_ENST00000581743.1_3'UTR|NARF_ENST00000412079.2_5'UTR|NARF_ENST00000390006.4_5'UTR|NARF_ENST00000457415.3_Silent_p.A31A|NARF_ENST00000345415.7_Silent_p.A31A	p.A31A	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		2	291	+	Breast(20;0.00106)|all_neural(118;0.0804)		31					A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Silent	SNP	ENST00000309794.11	37	c.93C>T	CCDS32777.1																																																																																				0.423	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		20	21	0	0	0	1	0	20	21					T	80417933	C	T	80417933	2	4	435	1	0	0	0	0	0	0	0	1	10167	610	22	3		3	NARF	17	80417933	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18	80417933	777277	7690	28615											
NARF	26502	broad.mit.edu	37	chr17	80439021	80439021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttatgacaagaagctggagGctcttcaggaaagccttccc	11	9	11	10	0	2	2	1	1	1	1	3	4	3	4	2	3	2	3	2	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80439021G>A	ENST00000309794.11	+	7	901	c.703G>A	c.(703-705)Gct>Act	p.A235T	NARF_ENST00000457415.3_Missense_Mutation_p.A281T|NARF_ENST00000390006.4_Missense_Mutation_p.A176T|NARF_ENST00000412079.2_Missense_Mutation_p.A107T|NARF-IT1_ENST00000584012.1_RNA|NARF_ENST00000345415.7_Missense_Mutation_p.A187T	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	235						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GAAGCTGGAGGCTCTTCAGGA	0.582																																						ENST00000390006.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(526-528)Gct>Act		nuclear prelamin A recognition factor							107	107	107					17																	80439021		2203	4300	6503	SO:0001583	missense	26502					lamin filament	lamin binding	g.chr17:80439021G>A	BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.703G>A	17.37:g.80439021G>A	ENSP00000309899:p.Ala235Thr					NARF_ENST00000412079.2_Missense_Mutation_p.A107T|NARF_ENST00000457415.3_Missense_Mutation_p.A281T|NARF_ENST00000345415.7_Missense_Mutation_p.A187T|NARF_ENST00000309794.10_Missense_Mutation_p.A235T	p.A176T	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		7	1000	+	Breast(20;0.00106)|all_neural(118;0.0804)		235					A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	ENST00000309794.11	37	c.526G>A	CCDS32777.1	.	.	.	.	.	.	.	.	.	.	.	12.90	2.075983	0.36662	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415;ENST00000412079;ENST00000457415	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.36	5.36	0.76844	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.74733	0.3755	M	0.88241	2.94	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.91635	0.999;0.994;0.996;0.996;0.998;0.99	T	0.79926	-0.1597	10	0.72032	D	0.01	-28.4081	18.0663	0.89391	0.0:0.0:1.0:0.0	.	107;190;235;187;235;235	B4DZZ6;B4DND8;Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;.;.;NARF_HUMAN	T	176;235;235;187;107;190	ENSP00000374656:A176T;ENSP00000363739:A235T;ENSP00000309899:A235T;ENSP00000283996:A187T;ENSP00000409710:A107T	ENSP00000309899:A235T	A	+	1	0	NARF	78032310	1.000000	0.71417	0.996000	0.52242	0.087000	0.18053	7.296000	0.78790	2.513000	0.84729	0.491000	0.48974	GCT		0.582	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		26	45	0	0	0	1	0	26	45					A	80439021	G	A	80439021	3	1	435	1	0	0	0	0	1	0	0	0	10167	1203	42	3	729	3	NARF	17	80439021	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	21088	80439021	756189	7691	28616											
FN3KRP	79672	broad.mit.edu	37	chr17	80678199	80678199	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatttacaccttgataacaaGaagcttggagagatgcgcct	13	10	10	8	1	0	3	0	1	0	2	0	6	0	4	2	1	4	1	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80678199G>A	ENST00000269373.6	+	3	418	c.345G>A	c.(343-345)aaG>aaA	p.K115K	FN3KRP_ENST00000535965.1_Silent_p.K65K	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	115							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TTGATAACAAGAAGCTTGGAG	0.562																																						ENST00000269373.6																			0				breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7						c.(343-345)aaG>aaA		fructosamine 3 kinase related protein							83	72	76					17																	80678199		2203	4300	6503	SO:0001819	synonymous_variant	79672						kinase activity	g.chr17:80678199G>A	AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.345G>A	17.37:g.80678199G>A						FN3KRP_ENST00000535965.1_Silent_p.K65K	p.K115K	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		3	418	+	Breast(20;0.000523)|all_neural(118;0.0952)		115					Q969F4|Q9H0U7	Silent	SNP	ENST00000269373.6	37	c.345G>A	CCDS11817.1																																																																																				0.562	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439219.1	NM_024619		26	46	0	0	0	1	0	26	46					A	80678199	G	A	80678199	2	1	435	1	0	0	0	0	0	0	0	1	5964	933	33	3		3	FN3KRP	17	80678199	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	239178	80678199	517011	7692	28617											
FN3K	64122	broad.mit.edu	37	chr17	80696418	80696418	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggccctcaggagcacGggcctggtgcgggtgccgag	5	5	19	12	3	1	0	1	0	0	0	1	3	1	2	3	6	3	1	3	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80696418G>A	ENST00000300784.7	+	2	257	c.195G>A	c.(193-195)acG>acA	p.T65T		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	65					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TCAGGAGCACGGGCCTGGTGC	0.632																																					Melanoma(10;391 597 14592 32548 32749)	ENST00000300784.7																			0				central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4						c.(193-195)acG>acA		fructosamine 3 kinase							53	57	55					17																	80696418		2203	4300	6503	SO:0001819	synonymous_variant	64122				fructoselysine metabolic process		fructosamine-3-kinase activity	g.chr17:80696418G>A	AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.195G>A	17.37:g.80696418G>A							p.T65T	NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		2	257	+	Breast(20;0.000523)|all_neural(118;0.0952)		65						Silent	SNP	ENST00000300784.7	37	c.195G>A	CCDS11818.1																																																																																				0.632	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439229.1	NM_022158		20	28	0	0	0	1	0	20	28					A	80696418	G	A	80696418	2	1	435	1	0	0	0	0	0	0	0	1	5963	1103	39	2		2	FN3K	17	80696418	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18219	80696418	498792	7693	28618											
TBCD	6904	broad.mit.edu	37	chr17	80885101	80885101	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaagcaggagccccagaCgaagctgtgtgcggagagaa	13	4	16	8	2	0	3	0	1	0	2	0	7	0	5	2	2	4	2	2	2	3	0	rs371243313		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80885101C>T	ENST00000355528.4	+	29	2641	c.2511C>T	c.(2509-2511)gaC>gaT	p.D837D	TBCD_ENST00000539345.2_Silent_p.D837D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	837					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					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)			GAGCCCCAGACGAAGCTGTGT	0.527																																						ENST00000355528.4																			0											c.(2509-2511)gaC>gaT		tubulin folding cofactor D							89	96	94					17																	80885101		2091	4193	6284	SO:0001819	synonymous_variant	6904				'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	g.chr17:80885101C>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2511C>T	17.37:g.80885101C>T						TBCD_ENST00000539345.2_Silent_p.D837D	p.D837D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		29	2641	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	837					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	c.2511C>T	CCDS45818.1																																																																																				0.527	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		16	14	0	0	0	1	0	16	14					T	80885101	C	T	80885101	2	4	435	1	0	0	0	0	0	0	0	1	15630	535	19	1		1	TBCD	17	80885101	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	188683	80885101	310109	7694	28619											
TBCD	6904	broad.mit.edu	37	chr17	80895147	80895147	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtgtgtgttgttcttccagCcacccctttgctgtgaagtt	5	16	10	10	0	1	1	0	1	1	0	2	1	2	1	4	0	2	4	4	0	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80895147C>T	ENST00000355528.4	+	35	3322	c.3192C>T	c.(3190-3192)gaC>gaT	p.D1064D	TBCD_ENST00000539345.2_Splice_Site_p.D1064D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	1064					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					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)			GTTCTTCCAGCCACCCCTTTG	0.478																																						ENST00000355528.4																			0											c.e35-1		tubulin folding cofactor D							90	90	90					17																	80895147		1967	4146	6113	SO:0001630	splice_region_variant	6904				'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	g.chr17:80895147C>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.3192-1C>T	17.37:g.80895147C>T						TBCD_ENST00000539345.2_Splice_Site_p.D1064_splice	p.D1064_splice	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		35	3322	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	1064					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Splice_Site	SNP	ENST00000355528.4	37	c.3191_splice	CCDS45818.1																																																																																				0.478	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993	Silent	13	23	0	0	0	1	0	13	23					T	80895147	C	T	80895147	5	4	435	1	0	0	0	0	0	0	1	0	15630	753	26	3	3330	3	TBCD	17	80895147	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10046	80895147	300063	7695	28620											
USP14	9097	broad.mit.edu	37	chr18	163395	163395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcaaggctcagctgtttgCgttgactggagtccagcctg	7	12	12	10	1	2	1	2	1	0	0	3	2	3	2	2	2	3	4	2	2	1	3	rs201080569		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:163395C>T	ENST00000261601.7	+	2	195	c.104C>T	c.(103-105)gCg>gTg	p.A35V	USP14_ENST00000383589.2_Missense_Mutation_p.A35V|USP14_ENST00000582707.1_Missense_Mutation_p.A35V|USP14_ENST00000400266.3_Missense_Mutation_p.A35V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	35	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CAGCTGTTTGCGTTGACTGGA	0.383																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.(103-105)gCg>gTg		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							75	76	76					18																	163395		2203	4300	6503	SO:0001583	missense	9097				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	g.chr18:163395C>T	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"Ubiquitin-specific peptidases"	12612	protein-coding gene	gene with protein product		607274	"ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.104C>T	18.37:g.163395C>T	ENSP00000261601:p.Ala35Val					USP14_ENST00000582707.1_Missense_Mutation_p.A35V|USP14_ENST00000383589.2_Missense_Mutation_p.A35V|USP14_ENST00000400266.3_Missense_Mutation_p.A35V	p.A35V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			2	195	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	35			Ubiquitin-like.		J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	c.104C>T	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478251	0.96291	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T;T	0.32515	1.45;1.45;1.47	5.34	5.34	0.76211	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (1);	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.69307	0.963;0.934;0.95	T	0.64533	-0.6385	10	0.72032	D	0.01	0.1104	19.0422	0.93004	0.0:1.0:0.0:0.0	.	35;35;35	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	V	35	ENSP00000261601:A35V;ENSP00000373083:A35V;ENSP00000383125:A35V	ENSP00000261601:A35V	A	+	2	0	USP14	153395	1.000000	0.71417	0.981000	0.43875	0.860000	0.49131	7.818000	0.86416	2.496000	0.84212	0.650000	0.86243	GCG		0.383	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		21	17	0	0	0	1	0	21	17					T	163395	C	T	163395	3	4	435	1	0	0	0	0	1	0	0	0	17042	768	27	1	110	1	USP14	18	163395	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08		163395	77913853	7696	28621											
USP14	9097	broad.mit.edu	37	chr18	179030	179030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgacagaagaacagttagCatctgctgtaagacacacca	16	7	8	10	0	1	4	0	1	1	3	1	4	1	4	1	0	3	4	1	0	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:179030C>T	ENST00000261601.7	+	4	384	c.293C>T	c.(292-294)gCa>gTa	p.A98V	USP14_ENST00000383589.2_Intron|USP14_ENST00000582707.1_Intron|USP14_ENST00000400266.3_Missense_Mutation_p.A87V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	98					negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GAACAGTTAGCATCTGCTGTA	0.408																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.(292-294)gCa>gTa		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							64	55	58					18																	179030		2203	4299	6502	SO:0001583	missense	9097				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	g.chr18:179030C>T	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"Ubiquitin-specific peptidases"	12612	protein-coding gene	gene with protein product		607274	"ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.293C>T	18.37:g.179030C>T	ENSP00000261601:p.Ala98Val					USP14_ENST00000582707.1_Intron|USP14_ENST00000383589.2_Intron|USP14_ENST00000400266.3_Missense_Mutation_p.A87V	p.A98V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			4	384	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	98					J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	c.293C>T	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152516	0.78001	.	.	ENSG00000101557	ENST00000261601;ENST00000400266	T;T	0.34667	1.35;1.35	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	L	0.41961	1.31	0.80722	D	1	B;B	0.32101	0.0;0.356	B;B	0.32533	0.0;0.147	T	0.06481	-1.0824	10	0.42905	T	0.14	.	20.1492	0.98083	0.0:1.0:0.0:0.0	.	87;98	B7Z4N8;P54578	.;UBP14_HUMAN	V	98;87	ENSP00000261601:A98V;ENSP00000383125:A87V	ENSP00000261601:A98V	A	+	2	0	USP14	169030	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.129000	0.77225	2.864000	0.98301	0.551000	0.68910	GCA		0.408	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		27	32	0	0	0	1	0	27	32					T	179030	C	T	179030	3	4	435	1	0	0	0	0	1	0	0	0	17042	710	25	3	307	3	USP14	18	179030	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15635	179030	77898218	7697	28622											
USP14	9097	broad.mit.edu	37	chr18	192883	192883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggggaaatggcttcagCgcagtatattactgcaggtt	10	12	12	7	1	2	0	2	0	0	0	2	1	2	1	0	4	3	5	0	4	4	6	rs577282582		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:192883C>T	ENST00000261601.7	+	6	537	c.446C>T	c.(445-447)gCg>gTg	p.A149V	USP14_ENST00000383589.2_Missense_Mutation_p.A103V|USP14_ENST00000582707.1_Missense_Mutation_p.A114V|USP14_ENST00000400266.3_Missense_Mutation_p.A138V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	149	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				ATGGCTTCAGCGCAGTATATT	0.368													C|||	1	0.000199681	8e-04	0	5008	,	,		17677	0		0	False		,,,				2504	0					ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.(445-447)gCg>gTg		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							161	158	159					18																	192883		2203	4300	6503	SO:0001583	missense	9097				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	g.chr18:192883C>T	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"Ubiquitin-specific peptidases"	12612	protein-coding gene	gene with protein product		607274	"ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.446C>T	18.37:g.192883C>T	ENSP00000261601:p.Ala149Val					USP14_ENST00000582707.1_Missense_Mutation_p.A114V|USP14_ENST00000383589.2_Missense_Mutation_p.A103V|USP14_ENST00000400266.3_Missense_Mutation_p.A138V	p.A149V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			6	537	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	149					J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	c.446C>T	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889564	0.91889	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.31510	1.49;1.49	5.8	5.8	0.92144	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.051891	0.85682	D	0.000000	T	0.50222	0.1603	M	0.68952	2.095	0.80722	D	1	D;P;P	0.55800	0.973;0.913;0.951	P;P;P	0.54270	0.747;0.526;0.595	T	0.48703	-0.9012	10	0.66056	D	0.02	-17.9728	20.0425	0.97596	0.0:1.0:0.0:0.0	.	138;114;149	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	V	149;114;138	ENSP00000261601:A149V;ENSP00000383125:A138V	ENSP00000261601:A149V	A	+	2	0	USP14	182883	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.863000	0.75489	2.745000	0.94114	0.650000	0.86243	GCG		0.368	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		32	58	0	0	0	1	0	32	58					T	192883	C	T	192883	3	4	435	1	0	0	0	0	1	0	0	0	17042	768	27	1	468	1	USP14	18	192883	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13853	192883	77884365	7698	28623											
USP14	9097	broad.mit.edu	37	chr18	198100	198100	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctaaaaagaaaagtttaatCgatcagttcttcggtgttga	14	14	8	5	2	3	2	1	1	2	1	5	3	3	2	0	1	0	3	0	1	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:198100C>T	ENST00000261601.7	+	9	820	c.729C>T	c.(727-729)atC>atT	p.I243I	USP14_ENST00000383589.2_Silent_p.I197I|USP14_ENST00000582707.1_Silent_p.I208I|USP14_ENST00000400266.3_Silent_p.I232I	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	243	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AAAGTTTAATCGATCAGTTCT	0.323																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.(727-729)atC>atT		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							70	73	72					18																	198100		2203	4300	6503	SO:0001819	synonymous_variant	9097				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	g.chr18:198100C>T	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"Ubiquitin-specific peptidases"	12612	protein-coding gene	gene with protein product		607274	"ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.729C>T	18.37:g.198100C>T						USP14_ENST00000582707.1_Silent_p.I208I|USP14_ENST00000383589.2_Silent_p.I197I|USP14_ENST00000400266.3_Silent_p.I232I	p.I243I	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			9	820	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	243					J3QRZ5|Q53XY5	Silent	SNP	ENST00000261601.7	37	c.729C>T	CCDS32780.1																																																																																				0.323	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		21	38	0	0	0	1	0	21	38					T	198100	C	T	198100	2	4	435	1	0	0	0	0	0	0	0	1	17042	874	31	2		2	USP14	18	198100	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5217	198100	77879148	7699	28624											
ENOSF1	55556	broad.mit.edu	37	chr18	683281	683281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgccccagaatgtcatcagGggaggttggctcctcaatcc	8	9	12	12	0	3	1	3	0	0	1	5	2	5	2	4	4	1	2	4	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:683281G>A	ENST00000251101.7	-	11	929	c.841C>T	c.(841-843)Cct>Tct	p.P281S	ENOSF1_ENST00000340116.7_Missense_Mutation_p.P302S|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000319815.6_Missense_Mutation_p.P51S|ENOSF1_ENST00000383578.3_Missense_Mutation_p.P199S|ENOSF1_ENST00000580982.1_Missense_Mutation_p.P205S	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	281					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						ATGTCATCAGGGGAGGTTGGC	0.547																																						ENST00000319815.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						c.(151-153)Cct>Tct		enolase superfamily member 1							133	116	122					18																	683281		2203	4300	6503	SO:0001583	missense	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:683281G>A	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.841C>T	18.37:g.683281G>A	ENSP00000251101:p.Pro281Ser					ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000383578.3_Missense_Mutation_p.P199S|ENOSF1_ENST00000340116.7_Missense_Mutation_p.P302S|ENOSF1_ENST00000580982.1_Missense_Mutation_p.P205S|ENOSF1_ENST00000251101.7_Missense_Mutation_p.P281S	p.P51S			Q7L5Y1	ENOF1_HUMAN			3	1415	-			281					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	c.151C>T	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	G	33	5.249525	0.95305	.	.	ENSG00000132199	ENST00000383578;ENST00000319815;ENST00000251101;ENST00000340116	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.69	5.69	0.88448	Mandelate racemase/muconate lactonizing enzyme, C-terminal (2);	0.050919	0.85682	D	0.000000	T	0.71896	0.3394	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0	D;P;D;D;D	0.79108	0.992;0.892;0.972;0.979;0.964	T	0.75088	-0.3441	10	0.87932	D	0	.	18.5735	0.91145	0.0:0.0:1.0:0.0	.	302;100;326;281;199	A6NMP3;B3KXE4;Q6ZS08;Q7L5Y1;Q7L5Y1-2	.;.;.;ENOF1_HUMAN;.	S	199;51;281;302	ENSP00000373072:P199S;ENSP00000313346:P51S;ENSP00000251101:P281S;ENSP00000345974:P302S	ENSP00000251101:P281S	P	-	1	0	ENOSF1	673281	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.298000	0.96132	2.672000	0.90937	0.650000	0.86243	CCT		0.547	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		33	49	0	0	0	1	0	33	49					A	683281	G	A	683281	3	1	435	1	0	0	0	0	1	0	0	0	5125	1232	43	3	514	3	ENOSF1	18	683281	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	485181	683281	77393967	7700	28625											
METTL4	64863	broad.mit.edu	37	chr18	2544202	2544202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaacataccagcaagcGgtggcttatgtgagtgaaga	16	8	11	6	1	0	3	0	2	0	1	0	3	0	3	1	2	4	2	1	2	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:2544202G>A	ENST00000574538.1	-	8	2040	c.1265C>T	c.(1264-1266)cCg>cTg	p.P422L	METTL4_ENST00000319888.6_Intron	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	422					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ACCAGCAAGCGGTGGCTTATG	0.358																																						ENST00000574538.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(1264-1266)cCg>cTg		methyltransferase like 4							54	55	54					18																	2544202		2203	4300	6503	SO:0001583	missense	64863				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	g.chr18:2544202G>A		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.1265C>T	18.37:g.2544202G>A	ENSP00000458290:p.Pro422Leu					METTL4_ENST00000319888.6_Intron	p.P422L	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN			8	2040	-			422					B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	ENST00000574538.1	37	c.1265C>T	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035116	0.75617	.	.	ENSG00000101574	ENST00000319888	.	.	.	4.77	4.77	0.60923	.	0.128816	0.52532	D	0.000068	D	0.83124	0.5186	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.83794	0.0232	9	0.37606	T	0.19	-0.3785	18.1523	0.89678	0.0:0.0:1.0:0.0	.	422	Q8N3J2	METL4_HUMAN	L	422	.	ENSP00000320349:P422L	P	-	2	0	METTL4	2534202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.503000	0.73699	2.341000	0.79615	0.585000	0.79938	CCG		0.358	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		27	29	0	0	0	1	0	27	29					A	2544202	G	A	2544202	3	1	435	1	0	0	0	0	1	0	0	0	9502	1116	39	2	161	2	METTL4	18	2544202	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1860921	2544202	75533046	7701	28626											
EMILIN2	84034	broad.mit.edu	37	chr18	2892105	2892105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaccctgccgtccccccaGcaccccgtggctcattgctg	5	7	9	20	2	1	0	1	0	0	0	2	1	2	0	7	1	3	3	7	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:2892105G>T	ENST00000254528.3	+	4	2139	c.1980G>T	c.(1978-1980)caG>caT	p.Q660H		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	660					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CGTCCCCCCAGCACCCCGTGG	0.572																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(1978-1980)caG>caT		elastin microfibril interfacer 2							56	55	56					18																	2892105		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2892105G>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1980G>T	18.37:g.2892105G>T	ENSP00000254528:p.Gln660His						p.Q660H	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	2139	+			660					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.1980G>T	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075659	0.36662	.	.	ENSG00000132205	ENST00000254528	T	0.23147	1.92	5.2	4.32	0.51571	.	1.610870	0.03066	N	0.156530	T	0.34106	0.0886	L	0.60455	1.87	0.09310	N	0.999998	P	0.43287	0.802	B	0.41813	0.367	T	0.32428	-0.9907	10	0.54805	T	0.06	-3.4343	10.7883	0.46417	0.0917:0.0:0.9083:0.0	.	660	Q9BXX0	EMIL2_HUMAN	H	660	ENSP00000254528:Q660H	ENSP00000254528:Q660H	Q	+	3	2	EMILIN2	2882105	0.051000	0.20477	0.019000	0.16419	0.016000	0.09150	2.554000	0.45845	2.421000	0.82119	0.563000	0.77884	CAG		0.572	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		14	19	1	0	4.36969e-10	1	4.65946e-10	14	19					T	2892105	G	T	2892105	3	4	435	1	0	0	0	0	1	0	0	0	5094	962	34	5	1994	5	EMILIN2	18	2892105	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	347903	2892105	75185143	7702	28627											
DLGAP1	9229	broad.mit.edu	37	chr18	3879237	3879237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagcgtggaggaccaggCgctcttcttcagcagcgggg	6	7	18	10	3	3	1	1	1	2	0	3	3	3	3	1	6	3	2	1	6	0	2	rs113585667		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:3879237C>T	ENST00000315677.3	-	4	1427	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	DLGAP1_ENST00000581527.1_Missense_Mutation_p.A278T|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A278T|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A278T	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	278					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				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)				GAGGACCAGGCGCTCTTCTTC	0.652																																						ENST00000315677.3																			0				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						c.(832-834)Gcc>Acc		discs, large (Drosophila) homolog-associated protein 1							56	53	54					18																	3879237		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879237C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.832G>A	18.37:g.3879237C>T	ENSP00000316377:p.Ala278Thr					DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A278T|DLGAP1_ENST00000581527.1_Missense_Mutation_p.A278T|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A278T	p.A278T	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	1427	-		Colorectal(8;0.0257)	278					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.832G>A	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212225	0.58452	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.14022	2.54;2.54	5.51	4.58	0.56647	.	0.184023	0.49305	D	0.000142	T	0.07683	0.0193	N	0.14661	0.345	0.37849	D	0.929314	B;P;B	0.45240	0.205;0.854;0.033	B;B;B	0.37144	0.038;0.242;0.011	T	0.27123	-1.0083	10	0.39692	T	0.17	-24.3113	11.6909	0.51514	0.3485:0.6515:0.0:0.0	.	278;278;278	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	T	278	ENSP00000316377:A278T;ENSP00000445973:A278T	ENSP00000316377:A278T	A	-	1	0	DLGAP1	3869237	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.347000	0.73004	2.605000	0.88082	0.655000	0.94253	GCC		0.652	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			17	37	0	0	0	1	0	17	37					T	3879237	C	T	3879237	3	4	435	1	0	0	0	0	1	0	0	0	4559	768	27	1	2196	1	DLGAP1	18	3879237	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	987132	3879237	74198011	7703	28628											
EPB41L3	23136	broad.mit.edu	37	chr18	5397140	5397140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctcacgggaagcagcggCtgtctcttcctgttccagga	6	10	12	13	3	2	0	1	0	1	0	6	2	4	2	2	3	2	4	2	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:5397140C>T	ENST00000341928.2	-	18	3098	c.2758G>A	c.(2758-2760)Gcc>Acc	p.A920T	EPB41L3_ENST00000427684.2_Missense_Mutation_p.A217T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.A751T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A920T|EPB41L3_ENST00000542146.1_Missense_Mutation_p.A225T|EPB41L3_ENST00000540638.2_Missense_Mutation_p.A698T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A698T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	920	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			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						GAAGCAGCGGCTGTCTCTTCC	0.512																																						ENST00000341928.2																			0				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						c.(2758-2760)Gcc>Acc		erythrocyte membrane protein band 4.1-like 3							109	90	97					18																	5397140		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397140C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2758G>A	18.37:g.5397140C>T	ENSP00000343158:p.Ala920Thr					EPB41L3_ENST00000542146.1_Missense_Mutation_p.A225T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A698T|EPB41L3_ENST00000427684.2_Missense_Mutation_p.A217T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.A751T|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A920T|EPB41L3_ENST00000540638.2_Missense_Mutation_p.A698T|EPB41L3_ENST00000542652.2_5'UTR	p.A920T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			18	3098	-			920			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2758G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395315	0.25205	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.87	2.99	0.34606	.	0.872877	0.10289	N	0.692594	T	0.60196	0.2250	L	0.43152	1.355	0.20196	N	0.999924	D;D;P;B;B;B;B;B	0.76494	0.999;0.999;0.923;0.073;0.001;0.046;0.301;0.394	D;D;P;B;B;B;B;B	0.91635	0.994;0.999;0.81;0.071;0.001;0.067;0.103;0.114	T	0.47947	-0.9077	10	0.14252	T	0.57	.	8.7368	0.34534	0.0:0.7387:0.1254:0.1359	.	751;217;225;312;589;698;920;155	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	T	920;589;751;589;217;225;920;698	ENSP00000343158:A920T;ENSP00000441174:A751T;ENSP00000392195:A217T;ENSP00000442233:A225T;ENSP00000341138:A920T;ENSP00000382981:A698T	ENSP00000343158:A920T	A	-	1	0	EPB41L3	5387140	0.531000	0.26338	0.002000	0.10522	0.053000	0.15095	0.730000	0.26043	0.829000	0.34733	0.591000	0.81541	GCC		0.512	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		32	45	0	0	0	1	0	32	45					T	5397140	C	T	5397140	3	4	435	1	0	0	0	0	1	0	0	0	5154	797	28	3	525	3	EPB41L3	18	5397140	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1517903	5397140	72680108	7704	28629											
EPB41L3	23136	broad.mit.edu	37	chr18	5428401	5428401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgtttattcgcagccGgtcgcgatatatcaacagac	12	11	8	10	4	2	1	1	0	1	1	4	2	2	1	1	1	2	2	1	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:5428401G>A	ENST00000341928.2	-	9	1316	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	EPB41L3_ENST00000544123.1_Missense_Mutation_p.R326W|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R326W|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R326W|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R326W	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	326	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.R326R(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						ATTCGCAGCCGGTCGCGATAT	0.418																																						ENST00000341928.2																			1	Substitution - coding silent(1)	p.R326R(1)	lung(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						c.(976-978)Cgg>Tgg		erythrocyte membrane protein band 4.1-like 3							140	144	143					18																	5428401		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5428401G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.976C>T	18.37:g.5428401G>A	ENSP00000343158:p.Arg326Trp					EPB41L3_ENST00000400111.3_Missense_Mutation_p.R326W|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R326W|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R326W|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R326W|EPB41L3_ENST00000542652.2_5'UTR	p.R326W	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			9	1316	-			326			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.976C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916452	0.73098	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;T;D;D;D	0.87412	-2.25;-1.41;-2.25;-2.25;-2.25	5.31	3.28	0.37604	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.048246	0.85682	D	0.000000	D	0.92485	0.7614	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.993;0.968;0.975;0.942;0.987	D	0.93109	0.6515	10	0.87932	D	0	.	12.9628	0.58468	0.0:0.0:0.5501:0.4498	.	326;326;217;326;326	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	W	326;217;326;217;326;326	ENSP00000343158:R326W;ENSP00000442091:R217W;ENSP00000441174:R326W;ENSP00000341138:R326W;ENSP00000382981:R326W	ENSP00000343158:R326W	R	-	1	2	EPB41L3	5418401	1.000000	0.71417	0.944000	0.38274	0.983000	0.72400	2.596000	0.46205	1.190000	0.43042	0.655000	0.94253	CGG		0.418	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		60	103	0	0	0	1	0	60	103					A	5428401	G	A	5428401	3	1	435	1	0	0	0	0	1	0	0	0	5154	1115	39	2	2343	2	EPB41L3	18	5428401	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31261	5428401	72648847	7705	28630											
EPB41L3	23136	broad.mit.edu	37	chr18	5489101	5489101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcacgggcgcccccgcgcGcccctgcgcccccgccgcct	1	2	13	25	9	0	0	0	0	0	0	0	0	0	0	8	2	1	1	8	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:5489101G>A	ENST00000341928.2	-	2	422	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	EPB41L3_ENST00000544123.1_Missense_Mutation_p.R28C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R28C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R28C|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R28C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	28					apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			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						gcccccgcgcgcccctgcgcc	0.716																																						ENST00000341928.2																			0				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						c.(82-84)Cgc>Tgc		erythrocyte membrane protein band 4.1-like 3							15	17	17					18																	5489101		2142	4161	6303	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5489101G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.82C>T	18.37:g.5489101G>A	ENSP00000343158:p.Arg28Cys					EPB41L3_ENST00000400111.3_Missense_Mutation_p.R28C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R28C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R28C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R28C	p.R28C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			2	422	-			28					B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.82C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019581	0.35606	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000342933;ENST00000400111;ENST00000542652	T;D;T;D	0.82711	-1.45;-1.6;-1.45;-1.64	5.38	1.09	0.20402	.	3.702960	0.00575	N	0.000314	T	0.72203	0.3431	N	0.08118	0	0.09310	N	1	P;P;P;P	0.51653	0.924;0.566;0.947;0.912	B;B;B;B	0.43123	0.409;0.121;0.219;0.109	T	0.65825	-0.6074	10	0.42905	T	0.14	.	10.5916	0.45312	0.0:0.4076:0.4523:0.1401	.	28;28;28;28	F5GX05;Q9Y2J2-3;Q9Y2J2-2;Q9Y2J2	.;.;.;E41L3_HUMAN	C	28;28;28;28;109	ENSP00000343158:R28C;ENSP00000441174:R28C;ENSP00000341138:R28C;ENSP00000382981:R28C	ENSP00000343158:R28C	R	-	1	0	EPB41L3	5479101	0.001000	0.12720	0.029000	0.17559	0.021000	0.10359	1.001000	0.29783	0.201000	0.20466	-0.311000	0.09066	CGC		0.716	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		12	13	0	0	0	1	0	12	13					A	5489101	G	A	5489101	3	1	435	1	0	0	0	0	1	0	0	0	5154	1087	38	1	3265	1	EPB41L3	18	5489101	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	60700	5489101	72588147	7706	28631											
TMEM200C	645369	broad.mit.edu	37	chr18	5890505	5890505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagctcccggagtcccGcctggtggggggcgagccct	3	6	18	14	3	0	0	0	0	0	0	2	3	2	2	4	6	2	1	4	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:5890505G>A	ENST00000581347.2	-	3	2203	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	RP11-945C19.4_ENST00000580845.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R520W|RP11-945C19.4_ENST00000577694.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	520						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CCGGAGTCCCGCCTGGTGGGG	0.736																																						ENST00000581347.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						c.(1558-1560)Cgg>Tgg		transmembrane protein 200C							7	9	8					18																	5890505		1716	3899	5615	SO:0001583	missense	645369					integral to membrane		g.chr18:5890505G>A		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.1558C>T	18.37:g.5890505G>A	ENSP00000463375:p.Arg520Trp					RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R520W	p.R520W			A6NKL6	T200C_HUMAN			3	2203	-			520						Missense_Mutation	SNP	ENST00000581347.2	37	c.1558C>T	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694804	0.68386	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.74	0.461	0.16689	.	.	.	.	.	T	0.12305	0.0299	N	0.08118	0	0.19300	N	0.999974	D	0.64830	0.994	P	0.44477	0.451	T	0.13072	-1.0523	8	0.72032	D	0.01	.	3.2413	0.06782	0.0945:0.1116:0.2787:0.5153	.	520	A6NKL6	T200C_HUMAN	W	520	.	ENSP00000372982:R520W	R	-	1	2	TMEM200C	5880505	0.878000	0.30173	0.006000	0.13384	0.647000	0.38526	0.428000	0.21395	0.408000	0.25621	0.561000	0.74099	CGG		0.736	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		3	9	0	0	0	1	0	3	9					A	5890505	G	A	5890505	3	1	435	1	0	0	0	0	1	0	0	0	16122	1086	38	1	311	1	TMEM200C	18	5890505	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	401404	5890505	72186743	7707	28632											
L3MBTL4	91133	broad.mit.edu	37	chr18	5956310	5956310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagagttgtaaatcttcagtGctgggcccagtttgatcttc	8	15	10	8	0	3	2	1	1	2	1	4	2	3	2	1	1	1	4	1	1	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:5956310G>A	ENST00000284898.6	-	20	1981	c.1781C>T	c.(1780-1782)gCa>gTa	p.A594V	RP11-793A3.1_ENST00000577704.1_RNA|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.A594V|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.A398V|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.A585V	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	594	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				AATCTTCAGTGCTGGGCCCAG	0.468																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000284898.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1780-1782)gCa>gTa		l(3)mbt-like 4 (Drosophila)							217	208	211					18																	5956310		1940	4137	6077	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:5956310G>A	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1781C>T	18.37:g.5956310G>A	ENSP00000284898:p.Ala594Val					RP11-793A3.1_ENST00000577704.1_RNA|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.A585V|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.A594V|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.A398V	p.A594V	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN			20	1981	-		Colorectal(10;0.0249)	594			SAM.		A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.1781C>T	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	G	34	5.302422	0.95601	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.74	5.74	0.90152	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.071612	0.53938	D	0.000043	T	0.75369	0.3840	M	0.90369	3.11	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.985	T	0.80233	-0.1467	10	0.87932	D	0	.	17.3915	0.87432	0.0:0.0:1.0:0.0	.	594;585	Q8NA19;F8W9S8	LMBL4_HUMAN;.	V	594;585;594;398	ENSP00000382976:A594V;ENSP00000318543:A585V;ENSP00000284898:A594V;ENSP00000444774:A398V	ENSP00000284898:A594V	A	-	2	0	L3MBTL4	5946310	1.000000	0.71417	0.079000	0.20413	0.989000	0.77384	7.574000	0.82434	2.713000	0.92767	0.655000	0.94253	GCA		0.468	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		20	124	0	0	0	1	0	20	124					A	5956310	G	A	5956310	3	1	435	1	0	0	0	0	1	0	0	0	8594	1319	46	3	94	3	L3MBTL4	18	5956310	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	65805	5956310	72120938	7708	28633											
ARHGAP28	79822	broad.mit.edu	37	chr18	6896557	6896557	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttctctccaaggtgtcCatggccattcaactcaacaa	11	10	5	15	0	3	0	2	0	1	0	6	0	5	0	4	2	2	0	4	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:6896557C>A	ENST00000383472.4	+	16	2066	c.1962C>A	c.(1960-1962)tcC>tcA	p.S654S	ARHGAP28_ENST00000314319.3_Silent_p.S495S|ARHGAP28_ENST00000419673.2_Silent_p.S495S|ARHGAP28_ENST00000418986.1_Silent_p.S495S|ARHGAP28_ENST00000262227.3_Silent_p.S602S|ARHGAP28_ENST00000531294.1_Silent_p.S490S|ARHGAP28_ENST00000532996.1_Silent_p.S477S|ARHGAP28_ENST00000400091.2_Silent_p.S654S			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	654					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CCAAGGTGTCCATGGCCATTC	0.448																																						ENST00000419673.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(1483-1485)tcC>tcA		Rho GTPase activating protein 28							125	105	112					18																	6896557		2203	4300	6503	SO:0001819	synonymous_variant	79822				signal transduction	intracellular		g.chr18:6896557C>A	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1962C>A	18.37:g.6896557C>A						ARHGAP28_ENST00000262227.3_Silent_p.S602S|ARHGAP28_ENST00000531294.1_Silent_p.S490S|ARHGAP28_ENST00000532996.1_Silent_p.S477S|ARHGAP28_ENST00000400091.2_Silent_p.S654S|ARHGAP28_ENST00000418986.1_Silent_p.S495S|ARHGAP28_ENST00000383472.4_Silent_p.S654S|ARHGAP28_ENST00000314319.3_Silent_p.S495S	p.S495S	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN			15	1702	+		Colorectal(10;0.168)	477					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Silent	SNP	ENST00000383472.4	37	c.1485C>A																																																																																					0.448	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		25	34	1	0	2.44723e-14	1	2.66926e-14	25	34					A	6896557	C	A	6896557	2	1	435	1	0	0	0	0	0	0	0	1	877	581	21	5		5	ARHGAP28	18	6896557	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	940247	6896557	71180691	7709	28634											
LAMA1	284217	broad.mit.edu	37	chr18	6985305	6985305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtagaccaggtcgactGcgttcctttgggacatgtgc	6	12	12	11	2	1	1	0	0	1	1	3	3	2	2	2	2	2	2	2	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:6985305G>A	ENST00000389658.3	-	39	5684	c.5591C>T	c.(5590-5592)gCa>gTa	p.A1864V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1864	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			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)				CAGGTCGACTGCGTTCCTTTG	0.498																																						ENST00000389658.3																			0				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						c.(5590-5592)gCa>gTa		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						201	166	178					18																	6985305		2203	4300	6503	SO:0001583	missense	284217				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	g.chr18:6985305G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5591C>T	18.37:g.6985305G>A	ENSP00000374309:p.Ala1864Val						p.A1864V	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			39	5684	-		Colorectal(10;0.172)	1864			Domain II and I.			Missense_Mutation	SNP	ENST00000389658.3	37	c.5591C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	3.732	-0.055381	0.07362	.	.	ENSG00000101680	ENST00000389658	T	0.18810	2.19	5.58	3.8	0.43715	.	0.474446	0.21904	N	0.067409	T	0.14313	0.0346	L	0.31664	0.95	0.23386	N	0.997783	B	0.13594	0.008	B	0.11329	0.006	T	0.21930	-1.0231	10	0.28530	T	0.3	.	8.7167	0.34416	0.2522:0.0:0.7478:0.0	.	1864	P25391	LAMA1_HUMAN	V	1864	ENSP00000374309:A1864V	ENSP00000374309:A1864V	A	-	2	0	LAMA1	6975305	0.641000	0.27251	0.006000	0.13384	0.003000	0.03518	1.741000	0.38238	0.728000	0.32382	0.655000	0.94253	GCA		0.498	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		27	139	0	0	0	1	0	27	139					A	6985305	G	A	6985305	3	1	435	1	0	0	0	0	1	0	0	0	8605	1319	46	3	3736	3	LAMA1	18	6985305	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	88748	6985305	71091943	7710	28635											
LAMA1	284217	broad.mit.edu	37	chr18	7023302	7023302	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctccgaggggtccacGttgccgctgcagtcacaggg	6	6	14	15	3	1	0	1	0	0	0	3	1	3	0	5	3	3	3	5	3	0	1	rs188317411		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:7023302G>A	ENST00000389658.3	-	19	2655	c.2562C>T	c.(2560-2562)aaC>aaT	p.N854N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	854	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			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)				AGGGGTCCACGTTGCCGCTGC	0.557													G|||	1	0.000199681	0	0.0014	5008	,	,		18352	0		0	False		,,,				2504	0					ENST00000389658.3																			0				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						c.(2560-2562)aaC>aaT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G		0,4406		0,0,2203	97	87	90		2562	-6.7	0.5	18		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LAMA1	NM_005559.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		854/3076	7023302	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284217				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	g.chr18:7023302G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2562C>T	18.37:g.7023302G>A							p.N854N	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			19	2655	-		Colorectal(10;0.172)	854			Laminin EGF-like 8.			Silent	SNP	ENST00000389658.3	37	c.2562C>T	CCDS32787.1																																																																																				0.557	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		15	19	0	0	0	1	0	15	19					A	7023302	G	A	7023302	2	1	435	1	0	0	0	0	0	0	0	1	8605	1136	40	1		1	LAMA1	18	7023302	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	37997	7023302	71053946	7711	28636											
LRRC30	339291	broad.mit.edu	37	chr18	7231883	7231883	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacatccagaccctcccgagCgaactccacctgctgtgtag	9	7	9	16	2	0	1	0	0	0	1	3	4	3	1	5	0	3	2	5	0	2	1	rs369417210		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:7231883C>T	ENST00000383467.2	+	1	761	c.747C>T	c.(745-747)agC>agT	p.S249S		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	249										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCCTCCCGAGCGAACTCCACC	0.572																																						ENST00000383467.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(745-747)agC>agT		leucine rich repeat containing 30		C		1,4053		0,1,2026	74	79	77		747	-11.6	0	18		77	0,8374		0,0,4187	no	coding-synonymous	LRRC30	NM_001105581.1		0,1,6213	TT,TC,CC		0.0,0.0247,0.0080		249/302	7231883	1,12427	2027	4187	6214	SO:0001819	synonymous_variant	339291							g.chr18:7231883C>T		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.747C>T	18.37:g.7231883C>T							p.S249S	NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN			1	761	+			249						Silent	SNP	ENST00000383467.2	37	c.747C>T	CCDS42409.1																																																																																				0.572	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		28	27	0	0	0	1	0	28	27					T	7231883	C	T	7231883	2	4	435	1	0	0	0	0	0	0	0	1	8985	767	27	1		1	LRRC30	18	7231883	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	208581	7231883	70845365	7712	28637											
PTPRM	5797	broad.mit.edu	37	chr18	8387204	8387204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaagaggagtacaatggCggggaaggccgcacggttgt	10	6	18	7	3	0	1	0	0	0	1	0	3	0	3	1	7	1	4	1	7	4	2	rs376481019		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:8387204C>T	ENST00000332175.8	+	29	5177	c.4140C>T	c.(4138-4140)ggC>ggT	p.G1380G	PTPRM_ENST00000400053.4_Silent_p.G1318G|PTPRM_ENST00000444013.1_Silent_p.G1167G|PTPRM_ENST00000400060.4_Silent_p.G1394G|PTPRM_ENST00000580170.1_Silent_p.G1393G	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1380	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGTACAATGGCGGGGAAGGCC	0.552																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(4138-4140)ggC>ggT		protein tyrosine phosphatase, receptor type, M		T	,	0,4406		0,0,2203	86	74	78		4179,4140	-9.6	0	18		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PTPRM	NM_001105244.1,NM_002845.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1393/1466,1380/1453	8387204	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5797				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	g.chr18:8387204C>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.4140C>T	18.37:g.8387204C>T						PTPRM_ENST00000444013.1_Silent_p.G1167G|PTPRM_ENST00000400053.4_Silent_p.G1318G|PTPRM_ENST00000400060.4_Silent_p.G1394G|PTPRM_ENST00000580170.1_Silent_p.G1393G	p.G1380G	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			29	5177	+		Colorectal(10;0.234)	1380			Tyrosine-protein phosphatase 2.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.4140C>T	CCDS11840.1																																																																																				0.552	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			21	16	0	0	0	1	0	21	16					T	8387204	C	T	8387204	2	4	435	1	0	0	0	0	0	0	0	1	12806	755	27	1		1	PTPRM	18	8387204	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1155321	8387204	69690044	7713	28638											
KIAA0802	23255	broad.mit.edu	37	chr18	8784384	8784384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaaatgtttgagaagaCgtcgggcttcgggagcggga	10	7	19	5	4	0	2	0	1	0	2	2	7	0	6	0	5	1	2	0	5	2	2	rs367871130		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:8784384C>T	ENST00000306329.11	+	5	2354	c.2354C>T	c.(2353-2355)aCg>aTg	p.T785M	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Missense_Mutation_p.T425M|SOGA2_ENST00000359865.3_Missense_Mutation_p.T425M|SOGA2_ENST00000517570.1_Missense_Mutation_p.T425M																							TTTGAGAAGACGTCGGGCTTC	0.637																																						ENST00000359865.3																			0											c.(1273-1275)aCg>aTg		SOGA family member 2		C	MET/THR	0,4406		0,0,2203	58	71	66		1274	4.5	0.9	18		66	1,8597	1.2+/-3.3	0,1,4298	no	missense	CCDC165	NM_015210.3	81	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	425/1587	8784384	1,13003	2203	4299	6502	SO:0001583	missense	23255							g.chr18:8784384C>T																												ENST00000306329.11:c.2354C>T	18.37:g.8784384C>T	ENSP00000305027:p.Thr785Met					SOGA2_ENST00000400050.3_Missense_Mutation_p.T425M|SOGA2_ENST00000306329.11_Missense_Mutation_p.T785M|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.T425M	p.T425M	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			6	1416	+			776						Missense_Mutation	SNP	ENST00000306329.11	37	c.1274C>T		.	.	.	.	.	.	.	.	.	.	C	6.841	0.524462	0.13066	0.0	1.16E-4	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.35236	1.32;1.32;1.32	5.43	4.54	0.55810	.	0.145076	0.32258	N	0.006358	T	0.60547	0.2277	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.958;0.981	T	0.64141	-0.6477	10	0.48119	T	0.1	-8.9754	15.3645	0.74510	0.1406:0.8594:0.0:0.0	.	446;425	A8MQ54;Q9Y4B5-3	.;.	M	446;425;425;425	ENSP00000429556:T425M;ENSP00000352927:T425M;ENSP00000382924:T425M	ENSP00000305027:T446M	T	+	2	0	CCDC165	8774384	1.000000	0.71417	0.885000	0.34714	0.351000	0.29236	4.594000	0.61041	1.235000	0.43724	0.591000	0.81541	ACG		0.637	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			19	28	0	0	0	1	0	19	28					T	8784384	C	T	8784384	3	4	435	1	0	0	0	0	1	0	0	0	8194	536	19	1	1288	1	KIAA0802	18	8784384	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	397180	8784384	69292864	7714	28639											
KIAA0802	23255	broad.mit.edu	37	chr18	8825585	8825585	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtgctacacccgtgtcGtctccttcccggagccttag	4	10	12	15	4	1	0	0	0	1	0	4	1	2	1	4	3	3	1	4	3	2	3	rs148473485		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:8825585G>A	ENST00000306329.11	+	13	5034	c.5034G>A	c.(5032-5034)tcG>tcA	p.S1678S	SOGA2_ENST00000518815.1_Silent_p.S684S|SOGA2_ENST00000306285.7_Silent_p.S684S|SOGA2_ENST00000400050.3_Silent_p.S1318S|SOGA2_ENST00000359865.3_Silent_p.S1359S|SOGA2_ENST00000517570.1_Silent_p.S1318S																							CACCCGTGTCGTCTCCTTCCC	0.622																																						ENST00000359865.3																			0											c.(4075-4077)tcG>tcA		SOGA family member 2		G		0,4406		0,0,2203	31	29	30		4077	-7.8	0.8	18	dbSNP_134	30	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	CCDC165	NM_015210.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		1359/1587	8825585	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23255							g.chr18:8825585G>A																												ENST00000306329.11:c.5034G>A	18.37:g.8825585G>A						SOGA2_ENST00000400050.3_Silent_p.S1318S|SOGA2_ENST00000306329.11_Silent_p.S1678S|SOGA2_ENST00000518815.1_Silent_p.S684S|SOGA2_ENST00000306285.7_Silent_p.S684S|SOGA2_ENST00000517570.1_Silent_p.S1318S	p.S1359S	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			15	4219	+			1669						Silent	SNP	ENST00000306329.11	37	c.4077G>A																																																																																					0.622	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			16	20	0	0	0	1	0	16	20					A	8825585	G	A	8825585	2	1	435	1	0	0	0	0	0	0	0	1	8194	1132	40	1		1	KIAA0802	18	8825585	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	41201	8825585	69251663	7715	28640											
ANKRD12	23253	broad.mit.edu	37	chr18	9255853	9255853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattagatcttagtgaatGtgttgataaaataaaagaaa	20	12	7	2	0	1	4	0	2	1	2	1	4	1	4	0	0	0	1	0	0	9	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:9255853G>A	ENST00000262126.4	+	9	2828	c.2588G>A	c.(2587-2589)tGt>tAt	p.C863Y	ANKRD12_ENST00000383440.2_Missense_Mutation_p.C840Y|ANKRD12_ENST00000400020.3_Missense_Mutation_p.C840Y	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	863						cytoplasm (GO:0005737)|nucleus (GO:0005634)				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						CTTAGTGAATGTGTTGATAAA	0.303																																						ENST00000383440.2																			0				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						c.(2518-2520)tGt>tAt		ankyrin repeat domain 12							32	33	33					18																	9255853		2197	4292	6489	SO:0001583	missense	23253					nucleus		g.chr18:9255853G>A	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2588G>A	18.37:g.9255853G>A	ENSP00000262126:p.Cys863Tyr					ANKRD12_ENST00000400020.3_Missense_Mutation_p.C840Y|ANKRD12_ENST00000262126.3_Missense_Mutation_p.C863Y	p.C840Y	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			8	2776	+			863					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.2519G>A	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	1.750	-0.489372	0.04352	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.63913	-0.06;-0.07	5.55	4.67	0.58626	.	0.283763	0.41500	D	0.000876	T	0.48642	0.1511	L	0.57536	1.79	0.09310	N	1	P;P	0.44195	0.786;0.828	B;B	0.37888	0.26;0.259	T	0.46119	-0.9214	10	0.06099	T	0.92	-17.638	8.1676	0.31237	0.1116:0.153:0.7354:0.0	.	840;863	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	Y	840;863	ENSP00000372932:C840Y;ENSP00000262126:C863Y	ENSP00000262126:C863Y	C	+	2	0	ANKRD12	9245853	0.838000	0.29461	0.035000	0.18076	0.207000	0.24258	1.201000	0.32259	1.315000	0.45114	0.557000	0.71058	TGT		0.303	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		11	18	0	0	0	1	0	11	18					A	9255853	G	A	9255853	3	1	435	1	0	0	0	0	1	0	0	0	640	1377	48	3	2618	3	ANKRD12	18	9255853	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	430268	9255853	68821395	7716	28641											
ANKRD12	23253	broad.mit.edu	37	chr18	9281097	9281097	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttccccttgttgatgttaaCgacgactttgaattgactcc	8	15	8	10	2	0	3	0	3	0	0	2	5	2	3	3	0	1	3	3	0	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:9281097C>T	ENST00000262126.4	+	13	6402	c.6162C>T	c.(6160-6162)aaC>aaT	p.N2054N	ANKRD12_ENST00000383440.2_Silent_p.N2031N|ANKRD12_ENST00000400020.3_Silent_p.N2031N	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	2054						cytoplasm (GO:0005737)|nucleus (GO:0005634)				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						TTGATGTTAACGACGACTTTG	0.403																																						ENST00000383440.2																			0				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						c.(6091-6093)aaC>aaT		ankyrin repeat domain 12							161	152	155					18																	9281097		2203	4300	6503	SO:0001819	synonymous_variant	23253					nucleus		g.chr18:9281097C>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.6162C>T	18.37:g.9281097C>T						ANKRD12_ENST00000400020.3_Silent_p.N2031N|ANKRD12_ENST00000262126.3_Silent_p.N2054N	p.N2031N	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			12	6350	+			2054					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	c.6093C>T	CCDS11843.1																																																																																				0.403	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		36	57	0	0	0	1	0	36	57					T	9281097	C	T	9281097	2	4	435	1	0	0	0	0	0	0	0	1	640	535	19	1		1	ANKRD12	18	9281097	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25244	9281097	68796151	7717	28642											
PPP4R1	9989	broad.mit.edu	37	chr18	9559585	9559585	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gataaatactgatctaacaaCgcctgaggtacaacatccta	16	9	6	10	1	1	2	0	2	1	0	2	3	2	2	2	1	5	1	2	1	8	5	rs371842374		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:9559585C>T	ENST00000400556.3	-	14	1933	c.1860G>A	c.(1858-1860)gcG>gcA	p.A620A	PPP4R1_ENST00000400555.3_Silent_p.A603A	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	620					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)	p.A620A(1)		large_intestine(1)|skin(2)	3						GATCTAACAACGCCTGAGGTA	0.433													c|||	1	0.000199681	8e-04	0	5008	,	,		20383	0		0	False		,,,				2504	0				Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			1	Substitution - coding silent(1)	p.A620A(1)	endometrium(1)	large_intestine(1)|skin(2)	3						c.(1858-1860)gcG>gcA		protein phosphatase 4, regulatory subunit 1		T	,	1,3939		0,1,1969	79	73	75		1860,1809	-11.1	0	18		75	0,8332		0,0,4166	no	coding-synonymous,coding-synonymous	PPP4R1	NM_001042388.1,NM_005134.2	,	0,1,6135	TT,TC,CC		0.0,0.0254,0.0081	,	620/951,603/934	9559585	1,12271	1970	4166	6136	SO:0001819	synonymous_variant	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9559585C>T	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1860G>A	18.37:g.9559585C>T						PPP4R1_ENST00000400555.3_Silent_p.A603A	p.A620A	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			14	1933	-			620					Q99774|Q9UNQ7	Silent	SNP	ENST00000400556.3	37	c.1860G>A	CCDS42412.1																																																																																				0.433	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		23	28	0	0	0	1	0	23	28					T	9559585	C	T	9559585	2	4	435	1	0	0	0	0	0	0	0	1	12403	523	19	1		1	PPP4R1	18	9559585	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	278488	9559585	68517663	7718	28643											
PPP4R1	9989	broad.mit.edu	37	chr18	9583125	9583125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccctacccaacgtgaaGgatcactgatcaaattaata	18	8	5	10	1	2	2	2	2	0	0	2	3	2	3	2	1	3	0	2	1	8	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:9583125G>T	ENST00000400556.3	-	9	981	c.908C>A	c.(907-909)cCt>cAt	p.P303H	PPP4R1_ENST00000580583.1_Intron|PPP4R1_ENST00000400555.3_Missense_Mutation_p.P286H	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	303					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						CCAACGTGAAGGATCACTGAT	0.343																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(907-909)cCt>cAt		protein phosphatase 4, regulatory subunit 1							57	53	55					18																	9583125		1816	4075	5891	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9583125G>T	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.908C>A	18.37:g.9583125G>T	ENSP00000383402:p.Pro303His					PPP4R1_ENST00000580583.1_Intron|PPP4R1_ENST00000400555.3_Missense_Mutation_p.P286H	p.P303H	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			9	981	-			303					Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.908C>A	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202909	0.79127	.	.	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	T;T	0.19532	2.14;2.14	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.289710	0.34932	N	0.003562	T	0.26268	0.0641	L	0.59436	1.845	0.80722	D	1	B;B	0.31077	0.204;0.307	B;B	0.31547	0.062;0.132	T	0.01757	-1.1280	9	.	.	.	-24.2602	19.5069	0.95121	0.0:0.0:1.0:0.0	.	303;286	Q8TF05;Q8TF05-2	PP4R1_HUMAN;.	H	303;286;214	ENSP00000383402:P303H;ENSP00000383401:P286H	.	P	-	2	0	PPP4R1	9573125	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.586000	0.67503	2.941000	0.99782	0.655000	0.94253	CCT		0.343	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		12	28	1	0	3.27435e-08	1	3.44876e-08	12	28					T	9583125	G	T	9583125	3	4	435	1	0	0	0	0	1	0	0	0	12403	1000	35	5	1992	5	PPP4R1	18	9583125	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23540	9583125	68494123	7719	28644											
PPP4R1	9989	broad.mit.edu	37	chr18	9588808	9588808	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttcttgacaaaacagtgcGatgtgaggcacctgttccat	10	13	9	9	1	1	2	0	2	1	0	2	3	2	2	2	1	2	2	2	1	2	4	rs369495071		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:9588808G>A	ENST00000400556.3	-	5	412	c.339C>T	c.(337-339)atC>atT	p.I113I	RP11-881L2.1_ENST00000584109.1_RNA|PPP4R1_ENST00000580583.1_5'UTR|PPP4R1_ENST00000400555.3_Silent_p.I96I	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	113					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						AAAACAGTGCGATGTGAGGCA	0.413																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(337-339)atC>atT		protein phosphatase 4, regulatory subunit 1		G	,	1,3807		0,1,1903	116	108	110		339,288	-3.9	0.5	18		110	2,8252		0,2,4125	no	coding-synonymous,coding-synonymous	PPP4R1	NM_001042388.1,NM_005134.2	,	0,3,6028	AA,AG,GG		0.0242,0.0263,0.0249	,	113/951,96/934	9588808	3,12059	1904	4127	6031	SO:0001819	synonymous_variant	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9588808G>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.339C>T	18.37:g.9588808G>A						RP11-881L2.1_ENST00000584109.1_RNA|PPP4R1_ENST00000580583.1_5'UTR|PPP4R1_ENST00000400555.3_Silent_p.I96I	p.I113I	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			5	412	-			113					Q99774|Q9UNQ7	Silent	SNP	ENST00000400556.3	37	c.339C>T	CCDS42412.1																																																																																				0.413	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		35	38	0	0	0	1	0	35	38					A	9588808	G	A	9588808	2	1	435	1	0	0	0	0	0	0	0	1	12403	1048	37	2		2	PPP4R1	18	9588808	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5683	9588808	68488440	7720	28645											
TXNDC2	84203	broad.mit.edu	37	chr18	9887552	9887552	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccaagaagggtgacaTccccaagtccccagaagaag	14	3	10	14	0	0	4	0	1	0	3	2	4	2	4	6	1	1	0	6	1	5	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:9887552T>C	ENST00000306084.6	+	2	1275	c.1076T>C	c.(1075-1077)aTc>aCc	p.I359T	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.I292T	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	359	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 (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AAGGGTGACATCCCCAAGTCC	0.567																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(1075-1077)aTc>aCc		thioredoxin domain containing 2 (spermatozoa)							151	141	144					18																	9887552		2203	4300	6503	SO:0001583	missense	0				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	g.chr18:9887552T>C	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1076T>C	18.37:g.9887552T>C	ENSP00000304908:p.Ile359Thr					TXNDC2_ENST00000357775.4_Missense_Mutation_p.I292T|TXNDC2_ENST00000536353.2_3'UTR	p.I359T	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1275	+			359			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.1076T>C	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	-	0.818	-0.749789	0.03041	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16324	2.35;2.35	4.01	-4.61	0.03380	.	.	.	.	.	T	0.07908	0.0198	N	0.21194	0.64	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.36407	-0.9749	8	.	.	.	-1.5154	3.0643	0.06210	0.1114:0.2592:0.112:0.5173	.	359	Q86VQ3	TXND2_HUMAN	T	157;292;359;344	ENSP00000350419:I292T;ENSP00000304908:I359T	.	I	+	2	0	TXNDC2	9877552	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.793000	0.00365	-1.473000	0.01881	-1.333000	0.01266	ATC		0.567	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			23	43	0	0	0	1	0	23	43					C	9887552	T	C	9887552	3	2	435	1	0	0	0	0	1	0	0	0	16794	1435	50	4	1082	4	TXNDC2	18	9887552	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	298744	9887552	68189696	7721	28646											
NAPG	8774	broad.mit.edu	37	chr18	10546334	10546334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttaggtttgatgaggCggcactctctattcagaaag	9	15	11	6	1	2	3	1	2	1	1	3	3	2	3	0	3	0	3	0	3	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:10546334C>T	ENST00000322897.6	+	9	587	c.518C>T	c.(517-519)gCg>gTg	p.A173V	NAPG_ENST00000542979.1_Missense_Mutation_p.A91V	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	173					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						TTTGATGAGGCGGCACTCTCT	0.318																																						ENST00000322897.6																			0				large_intestine(2)|lung(2)	4						c.(517-519)gCg>gTg		N-ethylmaleimide-sensitive factor attachment protein, gamma							80	68	72					18																	10546334		1809	4069	5878	SO:0001583	missense	8774				cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	g.chr18:10546334C>T	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"gamma SNAP"	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.518C>T	18.37:g.10546334C>T	ENSP00000324628:p.Ala173Val					NAPG_ENST00000542979.1_Missense_Mutation_p.A91V	p.A173V	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN			9	587	+			173					B4DFC9|Q9BUV1	Missense_Mutation	SNP	ENST00000322897.6	37	c.518C>T	CCDS45827.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487596	0.96323	.	.	ENSG00000134265	ENST00000322897;ENST00000542979	D;D	0.93953	-3.32;-3.32	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);	0.044133	0.85682	D	0.000000	D	0.96288	0.8789	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.63113	0.911	D	0.96510	0.9378	10	0.87932	D	0	-14.6148	19.4438	0.94838	0.0:1.0:0.0:0.0	.	173	Q99747	SNAG_HUMAN	V	173;91	ENSP00000324628:A173V;ENSP00000442849:A91V	ENSP00000324628:A173V	A	+	2	0	NAPG	10536334	1.000000	0.71417	0.949000	0.38748	0.991000	0.79684	6.387000	0.73191	2.655000	0.90218	0.655000	0.94253	GCG		0.318	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826		3	7	0	0	0	1	0	3	7					T	10546334	C	T	10546334	3	4	435	1	0	0	0	0	1	0	0	0	10164	768	27	1	552	1	NAPG	18	10546334	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	658782	10546334	67530914	7722	28647											
AFG3L2	10939	broad.mit.edu	37	chr18	12351331	12351331	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agatctgcctgtcgaaacgcCccggcctaagcagcgcgggg	8	5	14	14	5	1	1	0	0	1	1	2	2	1	1	4	3	4	1	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:12351331C>A	ENST00000269143.3	-	11	1631	c.1400G>T	c.(1399-1401)gGg>gTg	p.G467V		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	467					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GTCGAAACGCCCCGGCCTAAG	0.458																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(1399-1401)gGg>gTg		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						78	72	74					18																	12351331		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12351331C>A	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1400G>T	18.37:g.12351331C>A	ENSP00000269143:p.Gly467Val						p.G467V	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			11	1631	-			467					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.1400G>T	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206453	0.95033	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.82344	-1.6	5.81	5.81	0.92471	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.95636	0.8581	H	0.99117	4.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97158	0.9836	10	0.87932	D	0	.	20.089	0.97809	0.0:1.0:0.0:0.0	.	467	Q9Y4W6	AFG32_HUMAN	V	467;482	ENSP00000269143:G467V	ENSP00000269143:G467V	G	-	2	0	AFG3L2	12341331	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.750000	0.85110	2.752000	0.94435	0.557000	0.71058	GGG		0.458	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		11	30	1	0	5.50884e-06	1	5.70893e-06	11	30					A	12351331	C	A	12351331	3	1	435	1	0	0	0	0	1	0	0	0	360	623	22	5	1021	5	AFG3L2	18	12351331	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1804997	12351331	65725917	7723	28648											
AFG3L2	10939	broad.mit.edu	37	chr18	12351345	12351345	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacgccccggcctaagcagCgcggggtccaggatatctgg	9	5	14	13	4	1	0	0	0	1	0	2	1	2	1	4	5	3	1	4	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:12351345C>T	ENST00000269143.3	-	11	1617	c.1386G>A	c.(1384-1386)gcG>gcA	p.A462A		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	462					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GCCTAAGCAGCGCGGGGTCCA	0.463																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(1384-1386)gcG>gcA		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						74	69	71					18																	12351345		2203	4300	6503	SO:0001819	synonymous_variant	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12351345C>T	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1386G>A	18.37:g.12351345C>T							p.A462A	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			11	1617	-			462					Q6P1L0	Silent	SNP	ENST00000269143.3	37	c.1386G>A	CCDS11859.1																																																																																				0.463	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		11	26	0	0	0	1	0	11	26					T	12351345	C	T	12351345	2	4	435	1	0	0	0	0	0	0	0	1	360	755	27	1		1	AFG3L2	18	12351345	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14	12351345	65725903	7724	28649											
CEP192	55125	broad.mit.edu	37	chr18	13087063	13087063	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaatcttattttggaaggCgttaaaaaattatctgacag	15	13	8	5	1	2	1	0	1	2	0	2	2	2	2	0	2	1	2	0	2	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:13087063C>T	ENST00000325971.8	+	29	5469	c.3876C>T	c.(3874-3876)ggC>ggT	p.G1292G	CEP192_ENST00000506447.1_Silent_p.G1888G|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Silent_p.G1413G			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1292					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			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						TTTTGGAAGGCGTTAAAAAAT	0.348																																						ENST00000506447.1																			0				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						c.(5662-5664)ggC>ggT		centrosomal protein 192kDa							80	81	81					18																	13087063		2203	4300	6503	SO:0001819	synonymous_variant	55125							g.chr18:13087063C>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.3876C>T	18.37:g.13087063C>T						CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Silent_p.G1292G|CEP192_ENST00000430049.2_Silent_p.G1413G	p.G1888G	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			31	5744	+			1483					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37	c.5664C>T																																																																																					0.348	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		17	36	0	0	0	1	0	17	36					T	13087063	C	T	13087063	2	4	435	1	0	0	0	0	0	0	0	1	3251	755	27	1		1	CEP192	18	13087063	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	735718	13087063	64990185	7725	28650											
C18orf1	753	broad.mit.edu	37	chr18	13645549	13645549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctttcctccatcaccagCgcagcaacgcacacaggggc	9	6	8	18	2	2	0	1	0	1	0	4	0	4	0	4	2	3	3	4	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:13645549C>T	ENST00000359446.5	+	6	1282	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R235C|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R254C|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R195C|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.R272C|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.R174C|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R217C	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	272					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										CCATCACCAGCGCAGCAACGC	0.582																																						ENST00000361205.4																			0											c.(814-816)Cgc>Tgc		low density lipoprotein receptor class A domain containing 4							48	52	51					18																	13645549		2203	4300	6503	SO:0001583	missense	753							g.chr18:13645549C>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"clone 22"	606571	"chromosome 18 open reading frame 1"	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.814C>T	18.37:g.13645549C>T	ENSP00000352420:p.Arg272Cys					LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R254C|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R217C|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R195C|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R235C|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.R174C|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.R272C	p.R272C	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1					7	1482	+								B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.814C>T	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859232	0.51376	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.26810	1.71;1.71	4.85	3.96	0.45880	.	0.145291	0.64402	D	0.000007	T	0.20007	0.0481	N	0.08118	0	0.44611	D	0.997585	P;D;P;D;P;P	0.65815	0.673;0.995;0.673;0.995;0.818;0.917	B;P;B;P;B;B	0.49047	0.032;0.599;0.019;0.599;0.02;0.326	T	0.11275	-1.0594	10	0.72032	D	0.01	-2.0649	14.3023	0.66362	0.1499:0.8501:0.0:0.0	.	196;214;217;235;254;272	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	C	272;254;235;217;214;196	ENSP00000354753:R272C;ENSP00000382741:R254C	ENSP00000352420:R235C	R	+	1	0	C18orf1	13635549	1.000000	0.71417	0.998000	0.56505	0.187000	0.23431	5.070000	0.64376	1.020000	0.39573	0.655000	0.94253	CGC		0.582	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		21	29	0	0	0	1	0	21	29					T	13645549	C	T	13645549	3	4	435	1	0	0	0	0	1	0	0	0	1894	768	27	1	913	1	C18orf1	18	13645549	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	558486	13645549	64431699	7726	28651											
C18orf1	753	broad.mit.edu	37	chr18	13645640	13645640	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggcaaagataggaagcCtgggaacctggtctgattcc	13	7	12	9	0	1	2	0	1	1	1	2	4	2	4	3	4	2	1	3	4	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:13645640C>A	ENST00000359446.5	+	6	1373	c.905C>A	c.(904-906)cCt>cAt	p.P302H	LDLRAD4_ENST00000587757.1_Missense_Mutation_p.P265H|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.P284H|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.P225H|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.P302H|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.P204H|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.P247H	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	302					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										GATAGGAAGCCTGGGAACCTG	0.547																																						ENST00000361205.4																			0											c.(904-906)cCt>cAt		low density lipoprotein receptor class A domain containing 4							38	42	41					18																	13645640		2203	4300	6503	SO:0001583	missense	753							g.chr18:13645640C>A	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"clone 22"	606571	"chromosome 18 open reading frame 1"	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.905C>A	18.37:g.13645640C>A	ENSP00000352420:p.Pro302His					LDLRAD4_ENST00000399848.3_Missense_Mutation_p.P284H|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.P247H|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.P225H|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.P265H|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.P204H|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.P302H	p.P302H	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1					7	1573	+								B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.905C>A	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937792	0.73557	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.29397	1.64;1.57	5.06	5.06	0.68205	.	0.055158	0.64402	D	0.000001	T	0.57184	0.2036	M	0.72479	2.2	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.97110	0.998;1.0;0.999;1.0;0.955;0.935	T	0.61840	-0.6980	10	0.87932	D	0	-1.7091	18.4174	0.90575	0.0:1.0:0.0:0.0	.	226;244;247;265;284;302	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	H	302;284;265;247;244;226	ENSP00000354753:P302H;ENSP00000382741:P284H	ENSP00000352420:P265H	P	+	2	0	C18orf1	13635640	0.995000	0.38212	0.959000	0.39883	0.978000	0.69477	3.294000	0.51787	2.368000	0.80403	0.655000	0.94253	CCT		0.547	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		19	45	1	0	1.01871e-10	1	1.09092e-10	19	45					A	13645640	C	A	13645640	3	1	435	1	0	0	0	0	1	0	0	0	1894	681	24	5	1004	5	C18orf1	18	13645640	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	91	13645640	64431608	7727	28652											
C18orf19	125228	broad.mit.edu	37	chr18	13666632	13666632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacgggtggcggcgtggaCatgtagccatgactgcgcag	7	8	17	9	4	0	2	0	2	0	0	0	3	0	3	1	4	2	2	1	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:13666632C>T	ENST00000322247.3	-	5	1053	c.666G>A	c.(664-666)atG>atA	p.M222I	FAM210A_ENST00000588475.1_5'UTR|AP001010.1_ENST00000580433.1_RNA|FAM210A_ENST00000402563.1_Missense_Mutation_p.M222I	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	222	DUF1279.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											GCGGCGTGGACATGTAGCCAT	0.473																																						ENST00000322247.3																			0											c.(664-666)atG>atA		family with sequence similarity 210, member A							94	79	84					18																	13666632		2203	4300	6503	SO:0001583	missense	125228					integral to membrane		g.chr18:13666632C>T	AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 19"	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.666G>A	18.37:g.13666632C>T	ENSP00000323635:p.Met222Ile					FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Missense_Mutation_p.M222I	p.M222I	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN			5	1053	-			222			DUF1279.		D3DUJ4	Missense_Mutation	SNP	ENST00000322247.3	37	c.666G>A	CCDS11866.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163282	0.38217	.	.	ENSG00000177150	ENST00000322247;ENST00000402563	T;T	0.23754	1.89;1.89	5.95	5.07	0.68467	.	0.089405	0.64402	D	0.000001	T	0.14960	0.0361	N	0.25094	0.71	0.49483	D	0.99979	B	0.30824	0.296	B	0.19946	0.027	T	0.04103	-1.0977	10	0.07644	T	0.81	-22.6426	14.8876	0.70582	0.0:0.9315:0.0:0.0685	.	222	Q96ND0	CR019_HUMAN	I	222	ENSP00000323635:M222I;ENSP00000386115:M222I	ENSP00000323635:M222I	M	-	3	0	C18orf19	13656632	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.880000	0.48530	1.512000	0.48834	0.563000	0.77884	ATG		0.473	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352		8	25	0	0	0	1	0	8	25					T	13666632	C	T	13666632	3	4	435	1	0	0	0	0	1	0	0	0	1896	478	17	3	156	3	C18orf19	18	13666632	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20992	13666632	64410616	7728	28653											
RNMT	8731	broad.mit.edu	37	chr18	13731575	13731575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctcttgaacaggcaaaagCgtcagtgaattctgaaacag	14	9	10	8	1	3	3	1	3	2	0	4	3	3	3	0	1	3	1	0	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:13731575C>T	ENST00000383314.2	+	3	299	c.59C>T	c.(58-60)gCg>gTg	p.A20V	RNMT_ENST00000592764.1_Missense_Mutation_p.A20V|RNMT_ENST00000589866.1_Missense_Mutation_p.A20V|RNMT_ENST00000543302.2_Missense_Mutation_p.A20V|RNMT_ENST00000535051.1_Intron|RNMT_ENST00000262173.3_Missense_Mutation_p.A20V			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	20					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						CAGGCAAAAGCGTCAGTGAAT	0.363																																					GBM(29;474 594 19092 36647 41529)	ENST00000383314.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						c.(58-60)gCg>gTg		RNA (guanine-7-) methyltransferase							94	105	101					18																	13731575		2203	4300	6503	SO:0001583	missense	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13731575C>T	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.59C>T	18.37:g.13731575C>T	ENSP00000372804:p.Ala20Val					RNMT_ENST00000543302.2_Missense_Mutation_p.A20V|RNMT_ENST00000262173.3_Missense_Mutation_p.A20V|RNMT_ENST00000589866.1_Missense_Mutation_p.A20V|RNMT_ENST00000592764.1_Missense_Mutation_p.A20V|RNMT_ENST00000535051.1_Intron	p.A20V			O43148	MCES_HUMAN			3	299	+			20					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	c.59C>T	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	c	6.184	0.402094	0.11696	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000262173	.	.	.	5.08	4.21	0.49690	.	0.825877	0.10970	N	0.613906	T	0.30696	0.0773	L	0.29908	0.895	0.23506	N	0.997535	B;B	0.25007	0.116;0.004	B;B	0.15052	0.012;0.002	T	0.14643	-1.0465	9	0.33940	T	0.23	-0.3451	10.0606	0.42273	0.0:0.9054:0.0:0.0946	.	20;20	O43148-2;O43148	.;MCES_HUMAN	V	20	.	ENSP00000262173:A20V	A	+	2	0	RNMT	13721575	0.000000	0.05858	0.018000	0.16275	0.043000	0.13939	0.028000	0.13644	1.283000	0.44513	-0.119000	0.15052	GCG		0.363	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		40	57	0	0	0	1	0	40	57					T	13731575	C	T	13731575	3	4	435	1	0	0	0	0	1	0	0	0	13506	768	27	1	61	1	RNMT	18	13731575	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	64943	13731575	64345673	7729	28654											
RNMT	8731	broad.mit.edu	37	chr18	13737029	13737029	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaatttttggaaaaggtaCgacagaagaaaaaacgtgat	19	8	11	3	2	0	4	0	1	0	3	0	7	0	5	0	2	2	1	0	2	8	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:13737029C>T	ENST00000383314.2	+	5	814	c.574C>T	c.(574-576)Cga>Tga	p.R192*	RNMT_ENST00000592764.1_Nonsense_Mutation_p.R192*|RNMT_ENST00000589866.1_Nonsense_Mutation_p.R192*|RNMT_ENST00000543302.2_Nonsense_Mutation_p.R192*|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000262173.3_Nonsense_Mutation_p.R192*			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	192	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GGAAAAGGTACGACAGAAGAA	0.343																																					GBM(29;474 594 19092 36647 41529)	ENST00000383314.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						c.(574-576)Cga>Tga		RNA (guanine-7-) methyltransferase							108	109	109					18																	13737029		2203	4300	6503	SO:0001587	stop_gained	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13737029C>T	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.574C>T	18.37:g.13737029C>T	ENSP00000372804:p.Arg192*					RNMT_ENST00000543302.2_Nonsense_Mutation_p.R192*|RNMT_ENST00000262173.3_Nonsense_Mutation_p.R192*|RNMT_ENST00000589866.1_Nonsense_Mutation_p.R192*|RNMT_ENST00000592764.1_Nonsense_Mutation_p.R192*|RNMT_ENST00000535051.1_5'UTR	p.R192*			O43148	MCES_HUMAN			5	814	+			192					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Nonsense_Mutation	SNP	ENST00000383314.2	37	c.574C>T	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	C	37	6.481328	0.97603	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000544744;ENST00000262173	.	.	.	5.62	2.83	0.33086	.	0.115517	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-18.6545	9.5465	0.39284	0.2559:0.6777:0.0:0.0664	.	.	.	.	X	192;192;14;192	.	ENSP00000262173:R192X	R	+	1	2	RNMT	13727029	0.981000	0.34729	0.365000	0.25901	0.699000	0.40488	1.051000	0.30417	0.300000	0.22699	0.650000	0.86243	CGA		0.343	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		12	25	0	0	0	1	0	12	25					T	13737029	C	T	13737029	4	4	435	1	0	0	0	0	0	1	0	0	13506	528	19	1	584	1	RNMT	18	13737029	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5454	13737029	64340219	7730	28655											
MC5R	4161	broad.mit.edu	37	chr18	13826321	13826321	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactcagaatccacctacgTcatcctgtgcctcatctcca	9	11	5	16	1	4	1	3	0	1	1	7	1	6	1	5	0	3	1	5	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:13826321T>C	ENST00000324750.3	+	1	779	c.557T>C	c.(556-558)gTc>gCc	p.V186A	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	186					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TCCACCTACGTCATCCTGTGC	0.567																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(556-558)gTc>gCc		melanocortin 5 receptor							569	481	511					18																	13826321		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826321T>C	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.557T>C	18.37:g.13826321T>C	ENSP00000318077:p.Val186Ala						p.V186A	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	779	+			186					B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.557T>C	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.319325	0.41096	.	.	ENSG00000176136	ENST00000324750	T	0.38240	1.15	5.01	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.54965	1.715	0.58432	D	0.999997	P	0.47604	0.898	P	0.51415	0.669	T	0.32107	-0.9919	10	0.66056	D	0.02	.	10.0331	0.42111	0.0:0.0813:0.0:0.9187	.	186	P33032	MC5R_HUMAN	A	186	ENSP00000318077:V186A	ENSP00000318077:V186A	V	+	2	0	MC5R	13816321	1.000000	0.71417	0.004000	0.12327	0.187000	0.23431	5.897000	0.69831	0.728000	0.32382	0.374000	0.22700	GTC		0.567	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		19	375	0	0	0	1	0	19	375					C	13826321	T	C	13826321	3	2	435	1	0	0	0	0	1	0	0	0	9367	1667	58	4	559	4	MC5R	18	13826321	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	89292	13826321	64250927	7731	28656											
ANKRD30B	374860	broad.mit.edu	37	chr18	14787073	14787073	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatccaaacaaaaggacGatgaagaaaattcttgggat	19	7	9	6	1	1	3	0	1	1	2	2	6	2	5	1	2	1	0	1	2	7	2	rs372948852		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:14787073G>T	ENST00000358984.4	+	15	1888	c.1708G>T	c.(1708-1710)Gat>Tat	p.D570Y	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	570										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACAAAAGGACGATGAAGAAAA	0.289																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1708-1710)Gat>Tat		ankyrin repeat domain 30B							171	145	152					18																	14787073		692	1585	2277	SO:0001583	missense	374860							g.chr18:14787073G>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1708G>T	18.37:g.14787073G>T	ENSP00000351875:p.Asp570Tyr					ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y|ANKRD30B_ENST00000579292.1_Intron	p.D570Y	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			15	1888	+			570					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1708G>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	0.013	-1.632882	0.00806	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.05855	3.38;3.38	1.15	0.246	0.15516	.	.	.	.	.	T	0.04182	0.0116	L	0.31752	0.955	0.09310	N	1	D	0.53312	0.959	B	0.40134	0.32	T	0.40421	-0.9564	9	0.39692	T	0.17	.	4.2079	0.10497	0.2405:0.0:0.7595:0.0	.	570	F8WAG3	.	Y	570	ENSP00000351875:D570Y;ENSP00000399031:D570Y	ENSP00000351875:D570Y	D	+	1	0	ANKRD30B	14777073	0.016000	0.18221	0.000000	0.03702	0.002000	0.02628	-0.106000	0.10890	0.032000	0.15435	-1.377000	0.01181	GAT		0.289	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		5	46	1	0	0.014758	1	0.0148771	5	46					T	14787073	G	T	14787073	3	4	435	1	0	0	0	0	1	0	0	0	659	1058	37	5	1766	5	ANKRD30B	18	14787073	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	960752	14787073	63290175	7732	28657											
ANKRD30B	374860	broad.mit.edu	37	chr18	14787086	14787086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggacgatgaagaaaattCttgggattctgaggtactat	15	11	11	4	1	2	3	0	2	2	1	2	6	2	5	0	3	1	1	0	3	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:14787086C>T	ENST00000358984.4	+	15	1901	c.1721C>T	c.(1720-1722)tCt>tTt	p.S574F	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.S574F	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	574										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAAGAAAATTCTTGGGATTCT	0.303																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1720-1722)tCt>tTt		ankyrin repeat domain 30B							169	143	151					18																	14787086		692	1585	2277	SO:0001583	missense	374860							g.chr18:14787086C>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1721C>T	18.37:g.14787086C>T	ENSP00000351875:p.Ser574Phe					ANKRD30B_ENST00000447268.2_Missense_Mutation_p.S574F|ANKRD30B_ENST00000579292.1_Intron	p.S574F	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			15	1901	+			574					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1721C>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	9.317	1.056954	0.19907	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.07114	3.22;3.22	1.15	1.15	0.20763	.	.	.	.	.	T	0.09686	0.0238	L	0.53249	1.67	0.09310	N	1	D	0.58268	0.982	P	0.44518	0.452	T	0.25363	-1.0134	9	0.87932	D	0	.	5.7266	0.18017	0.0:1.0:0.0:0.0	.	574	F8WAG3	.	F	574	ENSP00000351875:S574F;ENSP00000399031:S574F	ENSP00000351875:S574F	S	+	2	0	ANKRD30B	14777086	0.724000	0.28038	0.148000	0.22405	0.003000	0.03518	1.007000	0.29860	0.948000	0.37687	0.289000	0.19496	TCT		0.303	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		9	42	0	0	0	1	0	9	42					T	14787086	C	T	14787086	3	4	435	1	0	0	0	0	1	0	0	0	659	913	32	3	1779	3	ANKRD30B	18	14787086	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13	14787086	63290162	7733	28658											
ROCK1	6093	broad.mit.edu	37	chr18	18533607	18533607	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtggatcttgtagaaagCgttcgaggggaagcacgaac	12	7	15	7	3	1	1	0	0	1	1	2	5	1	3	0	3	3	4	0	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:18533607C>T	ENST00000399799.2	-	32	4933	c.3993G>A	c.(3991-3993)acG>acA	p.T1331T		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1331	Auto-inhibitory.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTGTAGAAAGCGTTCGAGGGG	0.373																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(3991-3993)acG>acA		Rho-associated, coiled-coil containing protein kinase 1							161	170	167					18																	18533607		2201	4298	6499	SO:0001819	synonymous_variant	6093				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	g.chr18:18533607C>T		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3993G>A	18.37:g.18533607C>T							p.T1331T	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			32	4933	-	Melanoma(1;0.165)		1331			Auto-inhibitory.		B0YJ91|Q2KHM4|Q59GZ4	Silent	SNP	ENST00000399799.2	37	c.3993G>A	CCDS11870.2																																																																																				0.373	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		68	87	0	0	0	1	0	68	87					T	18533607	C	T	18533607	2	4	435	1	0	0	0	0	0	0	0	1	13517	755	27	1		1	ROCK1	18	18533607	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3746521	18533607	59543641	7734	28659											
ROCK1	6093	broad.mit.edu	37	chr18	18562759	18562759	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttcaagctgatcttgtaGctcccgcatctgtccttcat	7	14	7	13	1	4	1	2	1	2	0	6	1	6	1	2	0	3	5	2	0	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:18562759G>A	ENST00000399799.2	-	21	3464	c.2524C>T	c.(2524-2526)Cta>Tta	p.L842L		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	842	Glu-rich.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TGATCTTGTAGCTCCCGCATC	0.353																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(2524-2526)Cta>Tta		Rho-associated, coiled-coil containing protein kinase 1							129	121	124					18																	18562759		2203	4300	6503	SO:0001819	synonymous_variant	6093				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	g.chr18:18562759G>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2524C>T	18.37:g.18562759G>A							p.L842L	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			21	3464	-	Melanoma(1;0.165)		842			Glu-rich.		B0YJ91|Q2KHM4|Q59GZ4	Silent	SNP	ENST00000399799.2	37	c.2524C>T	CCDS11870.2																																																																																				0.353	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		31	32	0	0	0	1	0	31	32					A	18562759	G	A	18562759	2	1	435	1	0	0	0	0	0	0	0	1	13517	962	34	3		3	ROCK1	18	18562759	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29152	18562759	59514489	7735	28660											
ESCO1	114799	broad.mit.edu	37	chr18	19110307	19110307	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaggcaagaatttgttttaCgtgctattctgtccattaat	10	17	8	6	1	1	1	0	0	1	1	2	1	2	1	1	1	2	4	1	1	6	7	rs576285603		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:19110307C>T	ENST00000269214.5	-	12	3457	c.2520G>A	c.(2518-2520)acG>acA	p.T840T		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	840					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ATTTGTTTTACGTGCTATTCT	0.383													C|||	1	0.000199681	0	0.0014	5008	,	,		14290	0		0	False		,,,				2504	0					ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(2518-2520)acG>acA		establishment of sister chromatid cohesion N-acetyltransferase 1							54	57	56					18																	19110307		2203	4300	6503	SO:0001819	synonymous_variant	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19110307C>T	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.2520G>A	18.37:g.19110307C>T							p.T840T	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			12	3457	-			840					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Silent	SNP	ENST00000269214.5	37	c.2520G>A	CCDS32800.1																																																																																				0.383	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		19	32	0	0	0	1	0	19	32					T	19110307	C	T	19110307	2	4	435	1	0	0	0	0	0	0	0	1	5248	523	19	1		1	ESCO1	18	19110307	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	547548	19110307	58966941	7736	28661											
ESCO1	114799	broad.mit.edu	37	chr18	19140885	19140885	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgtttcatcttctggatTtgaagctgtatacagcattc	8	17	8	8	0	3	1	1	1	2	0	4	2	3	2	0	1	3	4	0	1	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:19140885T>C	ENST00000269214.5	-	8	2825	c.1888A>G	c.(1888-1890)Aat>Gat	p.N630D		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	630					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TCTTCTGGATTTGAAGCTGTA	0.328																																						ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1888-1890)Aat>Gat		establishment of sister chromatid cohesion N-acetyltransferase 1							119	113	115					18																	19140885		2203	4300	6503	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19140885T>C	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1888A>G	18.37:g.19140885T>C	ENSP00000269214:p.Asn630Asp						p.N630D	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			8	2825	-			630					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.1888A>G	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.689991	0.88735	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.59638	0.25;1.71	5.86	5.86	0.93980	.	0.051170	0.85682	D	0.000000	T	0.65238	0.2672	L	0.28556	0.865	0.47009	D	0.999288	D	0.76494	0.999	D	0.74348	0.983	T	0.62793	-0.6779	10	0.30854	T	0.27	-16.7975	16.2652	0.82574	0.0:0.0:0.0:1.0	.	630	Q5FWF5	ESCO1_HUMAN	D	630	ENSP00000269214:N630D;ENSP00000372763:N630D	ENSP00000269214:N630D	N	-	1	0	ESCO1	17394883	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.881000	0.69706	2.241000	0.73720	0.528000	0.53228	AAT		0.328	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		8	55	0	0	0	1	0	8	55					C	19140885	T	C	19140885	3	2	435	1	0	0	0	0	1	0	0	0	5248	1841	64	4	654	4	ESCO1	18	19140885	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	30578	19140885	58936363	7737	28662											
MIB1	57534	broad.mit.edu	37	chr18	19345871	19345871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaacatcatttaagacatcGcttttaccgaattactacac	15	13	3	10	2	1	1	1	0	0	1	2	2	1	1	1	0	4	1	1	0	7	7	rs541957058		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:19345871G>A	ENST00000261537.6	+	2	632	c.368G>A	c.(367-369)cGc>cAc	p.R123H	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	123					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TTAAGACATCGCTTTTACCGA	0.408													G|||	1	0.000199681	0	0	5008	,	,		19569	0		0	False		,,,				2504	0.001					ENST00000261537.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(367-369)cGc>cAc		mindbomb E3 ubiquitin protein ligase 1							150	132	138					18																	19345871		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19345871G>A	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.368G>A	18.37:g.19345871G>A	ENSP00000261537:p.Arg123His					MIB1_ENST00000578646.1_3'UTR	p.R123H	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		2	632	+			123					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.368G>A	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	34	5.375565	0.95923	.	.	ENSG00000101752	ENST00000261537	D	0.87887	-2.31	5.6	5.6	0.85130	Zinc finger, ZZ-type (2);	0.000000	0.85682	D	0.000000	D	0.93271	0.7856	M	0.76170	2.325	0.80722	D	1	D	0.67145	0.996	D	0.68353	0.957	D	0.93302	0.6677	10	0.62326	D	0.03	-8.7497	19.6138	0.95622	0.0:0.0:1.0:0.0	.	123	Q86YT6	MIB1_HUMAN	H	123	ENSP00000261537:R123H	ENSP00000261537:R123H	R	+	2	0	MIB1	17599869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.517000	0.98020	2.640000	0.89533	0.591000	0.81541	CGC		0.408	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		13	77	0	0	0	1	0	13	77					A	19345871	G	A	19345871	3	1	435	1	0	0	0	0	1	0	0	0	9566	1087	38	1	374	1	MIB1	18	19345871	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	204986	19345871	58731377	7738	28663											
MIB1	57534	broad.mit.edu	37	chr18	19348668	19348668	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtggtgcgaggagtggaCtggcagtgggaagatcaaga	12	6	19	4	1	1	3	1	0	0	3	1	7	1	6	0	5	1	1	0	5	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:19348668C>T	ENST00000261537.6	+	3	750	c.486C>T	c.(484-486)gaC>gaT	p.D162D	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	162	MIB/HERC2 2. {ECO:0000255|PROSITE- ProRule:PRU00749}.				blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GAGGAGTGGACTGGCAGTGGG	0.413																																						ENST00000261537.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(484-486)gaC>gaT		mindbomb E3 ubiquitin protein ligase 1							78	75	76					18																	19348668		2203	4300	6503	SO:0001819	synonymous_variant	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19348668C>T	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.486C>T	18.37:g.19348668C>T						MIB1_ENST00000578646.1_3'UTR	p.D162D	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		3	750	+			162			MIB/HERC2 2.		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Silent	SNP	ENST00000261537.6	37	c.486C>T	CCDS11871.1																																																																																				0.413	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		4	10	0	0	0	1	0	4	10					T	19348668	C	T	19348668	2	4	435	1	0	0	0	0	0	0	0	1	9566	564	20	3		3	MIB1	18	19348668	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2797	19348668	58728580	7739	28664											
CTAGE1	64693	broad.mit.edu	37	chr18	19996934	19996934	+	5'Flank	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagtttcttcaaagctcCttttggaggattatctaagt	11	16	7	7	0	4	0	2	0	2	0	5	2	5	2	1	2	1	2	1	2	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:19996934C>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Nonsense_Mutation_p.G281*			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				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)					TTCAAAGCTCCTTTTGGAGGA	0.343																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(841-843)Gga>Tga		cutaneous T-cell lymphoma-associated antigen 1							75	78	77					18																	19996934		2202	4297	6499	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996934C>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996934C>A	Exception_encountered						p.G281*	NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN			1	944	-	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)		281					B0YIZ3	Nonsense_Mutation	SNP	ENST00000525417.1	37	c.841G>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.061355	0.76187	.	.	ENSG00000212710	ENST00000391403	.	.	.	0.909	-0.134	0.13481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.3825	0.07260	0.0:0.6821:0.0:0.3179	.	.	.	.	X	281	.	.	G	-	1	0	CTAGE1	18250932	0.048000	0.20356	0.003000	0.11579	0.406000	0.30931	-1.056000	0.03489	-0.068000	0.12953	0.449000	0.29647	GGA		0.343	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		16	69	1	0	1.3612e-06	1	1.41782e-06	16	69					A	19996934	C	A	19996934	1	1	435	0	1	0	0	0	0	0	0	0	3992	690	24	5		5	CTAGE1	18	19996934	5'Flank	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	648266	19996934	58080314	7740	28665											
CTAGE1	64693	broad.mit.edu	37	chr18	19997347	19997347	+	5'Flank	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcatcttctagcgactgtAtccttttggaaatatccgcc	9	14	6	12	2	3	0	1	0	2	0	5	2	5	1	3	1	1	1	3	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:19997347A>G	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.I143T			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				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)					TAGCGACTGTATCCTTTTGGA	0.363																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(427-429)aTa>aCa		cutaneous T-cell lymphoma-associated antigen 1							104	115	111					18																	19997347		2195	4296	6491	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19997347A>G	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997347A>G	Exception_encountered						p.I143T	NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN			1	531	-	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)		143					B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.428T>C		.	.	.	.	.	.	.	.	.	.	A	10.74	1.435991	0.25813	.	.	ENSG00000212710	ENST00000391403	T	0.37411	1.2	0.909	-0.546	0.11840	.	.	.	.	.	T	0.52645	0.1747	M	0.85299	2.745	0.09310	N	1	D	0.65815	0.995	P	0.62014	0.897	T	0.42582	-0.9443	8	.	.	.	.	3.0397	0.06134	0.6821:0.0:0.3179:0.0	.	143	Q96RT6	CTGE2_HUMAN	T	143	ENSP00000375220:I143T	.	I	-	2	0	CTAGE1	18251345	0.001000	0.12720	0.003000	0.11579	0.256000	0.26092	0.685000	0.25378	-0.173000	0.10761	0.369000	0.22263	ATA		0.363	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		54	79	0	0	0	1	0	54	79					G	19997347	A	G	19997347	1	3	435	0	1	0	0	0	0	0	0	0	3992	449	16	4		4	CTAGE1	18	19997347	5'Flank	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	413	19997347	58079901	7741	28666											
RBBP8	5932	broad.mit.edu	37	chr18	20562268	20562268	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccttctcattttctggCgttaaccggctacgaagaaa	11	11	8	11	3	2	1	1	0	2	1	3	2	2	1	2	2	3	2	2	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:20562268C>T	ENST00000399722.2	+	7	867	c.516C>T	c.(514-516)ggC>ggT	p.G172G	RBBP8_ENST00000360790.5_Silent_p.G172G|RBBP8_ENST00000399725.2_Silent_p.G172G|RBBP8_ENST00000327155.5_Silent_p.G172G	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	172					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CATTTTCTGGCGTTAACCGGC	0.438								Homologous recombination																														ENST00000399722.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(514-516)ggC>ggT	Homologous recombination	retinoblastoma binding protein 8							168	147	154					18																	20562268		2203	4300	6503	SO:0001819	synonymous_variant	5932				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	g.chr18:20562268C>T	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.516C>T	18.37:g.20562268C>T						RBBP8_ENST00000585177.1_3'UTR|RBBP8_ENST00000327155.5_Silent_p.G172G|RBBP8_ENST00000360790.5_Silent_p.G172G|RBBP8_ENST00000399725.2_Silent_p.G172G	p.G172G	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		7	867	+	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)		172					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Silent	SNP	ENST00000399722.2	37	c.516C>T	CCDS11875.1																																																																																				0.438	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		17	50	0	0	0	1	0	17	50					T	20562268	C	T	20562268	2	4	435	1	0	0	0	0	0	0	0	1	13105	755	27	1		1	RBBP8	18	20562268	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	564921	20562268	57514980	7742	28667											
RBBP8	5932	broad.mit.edu	37	chr18	20562337	20562337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaacacatactaaattggaGcactctgtgtgtgcaaatgg	14	10	9	8	0	1	0	0	0	1	0	1	1	1	1	0	2	4	2	0	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:20562337G>T	ENST00000399722.2	+	7	936	c.585G>T	c.(583-585)gaG>gaT	p.E195D	RBBP8_ENST00000360790.5_Missense_Mutation_p.E195D|RBBP8_ENST00000399725.2_Missense_Mutation_p.E195D|RBBP8_ENST00000327155.5_Missense_Mutation_p.E195D	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	195					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CTAAATTGGAGCACTCTGTGT	0.388								Homologous recombination																														ENST00000399722.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(583-585)gaG>gaT	Homologous recombination	retinoblastoma binding protein 8							171	160	164					18																	20562337		2203	4300	6503	SO:0001583	missense	5932				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	g.chr18:20562337G>T	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.585G>T	18.37:g.20562337G>T	ENSP00000382628:p.Glu195Asp					RBBP8_ENST00000585177.1_3'UTR|RBBP8_ENST00000327155.5_Missense_Mutation_p.E195D|RBBP8_ENST00000360790.5_Missense_Mutation_p.E195D|RBBP8_ENST00000399725.2_Missense_Mutation_p.E195D	p.E195D	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		7	936	+	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)		195					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	c.585G>T	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276509	0.40294	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.35421	1.34;1.31;1.34;1.33;1.34	5.78	0.943	0.19531	.	0.356526	0.27096	N	0.020958	T	0.47893	0.1470	M	0.70595	2.14	0.09310	N	0.999999	D;P;D	0.69078	0.997;0.799;0.997	P;B;P	0.60012	0.867;0.272;0.867	T	0.30001	-0.9993	10	0.41790	T	0.15	-4.1524	7.9098	0.29785	0.4637:0.0:0.5363:0.0	.	195;195;195	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	D	195	ENSP00000323050:E195D;ENSP00000382630:E195D;ENSP00000382628:E195D;ENSP00000382627:E195D;ENSP00000354024:E195D	ENSP00000323050:E195D	E	+	3	2	RBBP8	18816335	0.605000	0.26941	0.019000	0.16419	0.237000	0.25408	0.430000	0.21428	0.378000	0.24764	0.555000	0.69702	GAG		0.388	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		5	68	1	0	0.184627	1	0.185007	5	68					T	20562337	G	T	20562337	3	4	435	1	0	0	0	0	1	0	0	0	13105	962	34	5	607	5	RBBP8	18	20562337	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	69	20562337	57514911	7743	28668											
C18orf8	29919	broad.mit.edu	37	chr18	21095841	21095841	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaccagagaaacggagtCtgaaactcttgaagagccac	15	8	9	9	1	2	4	0	2	2	2	2	6	2	5	2	1	4	0	2	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:21095841C>A	ENST00000269221.3	+	6	540	c.430C>A	c.(430-432)Ctg>Atg	p.L144M	C18orf8_ENST00000590868.1_Missense_Mutation_p.L96M	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	144						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAAACGGAGTCTGAAACTCTT	0.468											OREG0024894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(430-432)Ctg>Atg		chromosome 18 open reading frame 8							109	108	108					18																	21095841		2203	4300	6503	SO:0001583	missense	29919							g.chr18:21095841C>A	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"colon cancer associated protein Mic1", "macrophage inhibitory cytokine 1"					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.430C>A	18.37:g.21095841C>A	ENSP00000269221:p.Leu144Met		OREG0024894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	745	C18orf8_ENST00000590868.1_Missense_Mutation_p.L96M	p.L144M	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			6	540	+	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)		144					Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.430C>A	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876813	0.51801	.	.	ENSG00000141452	ENST00000269221;ENST00000540942	T	0.13657	2.57	5.58	4.6	0.57074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.146088	0.47455	D	0.000234	T	0.23688	0.0573	M	0.78049	2.395	0.80722	D	1	B;P	0.37158	0.449;0.585	B;P	0.48425	0.373;0.577	T	0.06862	-1.0803	10	0.51188	T	0.08	-12.3792	3.3809	0.07254	0.0:0.5369:0.2824:0.1807	.	144;96	Q96DM3;F5H2W0	MIC1_HUMAN;.	M	144;96	ENSP00000269221:L144M	ENSP00000269221:L144M	L	+	1	2	C18orf8	19349839	0.921000	0.31238	0.955000	0.39395	0.922000	0.55478	1.741000	0.38238	2.626000	0.88956	0.644000	0.83932	CTG		0.468	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		4	155	1	0	0.000602214	1	0.000612743	4	155					A	21095841	C	A	21095841	3	1	435	1	0	0	0	0	1	0	0	0	1907	912	32	5	452	5	C18orf8	18	21095841	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	533504	21095841	56981407	7744	28669											
C18orf8	29919	broad.mit.edu	37	chr18	21107861	21107861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatgccgagcagagttatgCgatggtgagttacatggagt	10	10	16	5	2	0	2	0	1	0	1	0	6	0	4	1	3	4	3	1	3	2	2	rs139487898		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:21107861C>T	ENST00000269221.3	+	14	1402	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	C18orf8_ENST00000590868.1_Missense_Mutation_p.A383V	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	431						lysosomal membrane (GO:0005765)		p.A431V(1)		endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CAGAGTTATGCGATGGTGAGT	0.433													C|||	1	0.000199681	0	0	5008	,	,		18291	0		0.001	False		,,,				2504	0					ENST00000269221.3																			1	Substitution - Missense(1)	p.A431V(1)	endometrium(1)	endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(1291-1293)gCg>gTg		chromosome 18 open reading frame 8		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	71	67	68		1292	3.5	0	18	dbSNP_134	68	4,8596	3.7+/-12.6	0,4,4296	yes	missense	C18orf8	NM_013326.3	64	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign	431/658	21107861	5,13001	2203	4300	6503	SO:0001583	missense	29919							g.chr18:21107861C>T	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"colon cancer associated protein Mic1", "macrophage inhibitory cytokine 1"					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1292C>T	18.37:g.21107861C>T	ENSP00000269221:p.Ala431Val					C18orf8_ENST00000590868.1_Missense_Mutation_p.A383V	p.A431V	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			14	1402	+	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)		431					Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.1292C>T	CCDS32803.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.518	0.463843	0.12402	2.27E-4	4.65E-4	ENSG00000141452	ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734	.	.	.	5.34	3.49	0.39957	.	0.519778	0.22978	N	0.053352	T	0.26846	0.0657	L	0.40543	1.245	0.22156	N	0.999326	B;B	0.27229	0.172;0.031	B;B	0.18871	0.023;0.011	T	0.18335	-1.0340	9	0.12103	T	0.63	0.1741	6.9099	0.24329	0.1382:0.7123:0.0:0.1495	.	274;431	B7Z2Y1;Q96DM3	.;MIC1_HUMAN	V	431;274;383;274	.	ENSP00000269221:A431V	A	+	2	0	C18orf8	19361859	0.936000	0.31750	0.007000	0.13788	0.012000	0.07955	2.327000	0.43858	0.690000	0.31570	0.655000	0.94253	GCG		0.433	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		11	18	0	0	0	1	0	11	18					T	21107861	C	T	21107861	3	4	435	1	0	0	0	0	1	0	0	0	1907	768	27	1	1346	1	C18orf8	18	21107861	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12020	21107861	56969387	7745	28670											
NPC1	4864	broad.mit.edu	37	chr18	21114442	21114442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcaagtgcctcttccgCgcgctccacgcggctgcctt	3	9	13	16	5	1	0	0	0	1	0	3	0	3	0	4	2	2	3	4	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:21114442C>T	ENST00000269228.5	-	23	4113	c.3559G>A	c.(3559-3561)Gcg>Acg	p.A1187T	NPC1_ENST00000412552.2_Missense_Mutation_p.A869T	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1187					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			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)					GCCTCTTCCGCGCGCTCCACG	0.587																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(3559-3561)Gcg>Acg		Niemann-Pick disease, type C1							66	57	60					18																	21114442		2203	4300	6503	SO:0001583	missense	4864				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	g.chr18:21114442C>T	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3559G>A	18.37:g.21114442C>T	ENSP00000269228:p.Ala1187Thr					NPC1_ENST00000412552.2_Missense_Mutation_p.A869T	p.A1187T	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			23	4113	-	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)		1187					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.3559G>A	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961681	0.92791	.	.	ENSG00000141458	ENST00000269228;ENST00000412552	D;D	0.85773	-2.03;-2.03	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.92854	0.7727	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.982	D	0.92603	0.6093	10	0.62326	D	0.03	-22.7853	20.1458	0.98076	0.0:1.0:0.0:0.0	.	1198;1187	Q59GR1;O15118	.;NPC1_HUMAN	T	1187;869	ENSP00000269228:A1187T;ENSP00000408606:A869T	ENSP00000269228:A1187T	A	-	1	0	NPC1	19368440	1.000000	0.71417	0.174000	0.22961	0.295000	0.27426	6.034000	0.70933	2.765000	0.95021	0.643000	0.83706	GCG		0.587	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		15	19	0	0	0	1	0	15	19					T	21114442	C	T	21114442	3	4	435	1	0	0	0	0	1	0	0	0	10570	768	27	1	289	1	NPC1	18	21114442	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6581	21114442	56962806	7746	28671											
NPC1	4864	broad.mit.edu	37	chr18	21124372	21124372	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaccaggaacgggatgActtcaatcacaatgagggtc	13	6	11	11	1	2	2	2	2	0	0	3	4	2	4	2	3	2	1	2	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:21124372A>G	ENST00000269228.5	-	13	2620	c.2066T>C	c.(2065-2067)gTc>gCc	p.V689A	NPC1_ENST00000412552.2_Missense_Mutation_p.V371A|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	689	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			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)					GAACGGGATGACTTCAATCAC	0.532																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(2065-2067)gTc>gCc		Niemann-Pick disease, type C1							141	102	115					18																	21124372		2203	4300	6503	SO:0001583	missense	4864				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	g.chr18:21124372A>G	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2066T>C	18.37:g.21124372A>G	ENSP00000269228:p.Val689Ala					NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.V371A	p.V689A	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			13	2620	-	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)		689			SSD.		B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.2066T>C	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	A	31	5.098970	0.94197	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.96745	-4.11;-4.11	5.85	5.85	0.93711	Sterol-sensing domain (1);	0.055638	0.64402	D	0.000001	D	0.98353	0.9453	M	0.88704	2.975	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.99282	1.0896	10	0.66056	D	0.02	-42.5603	16.2355	0.82371	1.0:0.0:0.0:0.0	.	700;689	Q59GR1;O15118	.;NPC1_HUMAN	A	689;371;534	ENSP00000269228:V689A;ENSP00000408606:V371A	ENSP00000269228:V689A	V	-	2	0	NPC1	19378370	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.334000	0.96470	2.238000	0.73509	0.533000	0.62120	GTC		0.532	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		11	14	0	0	0	1	0	11	14					G	21124372	A	G	21124372	3	3	435	1	0	0	0	0	1	0	0	0	10570	275	10	4	1822	4	NPC1	18	21124372	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	9930	21124372	56952876	7747	28672											
NPC1	4864	broad.mit.edu	37	chr18	21128018	21128018	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttctctgtatcattatagTaattattgacagggaaggta	12	15	9	5	0	2	1	1	1	1	0	3	2	2	2	0	2	0	4	0	2	7	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:21128018T>C	ENST00000269228.5	-	11	2263	c.1709A>G	c.(1708-1710)tAc>tGc	p.Y570C	NPC1_ENST00000412552.2_Intron|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	570					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			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)					ATCATTATAGTAATTATTGAC	0.438																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(1708-1710)tAc>tGc		Niemann-Pick disease, type C1							151	146	148					18																	21128018		2203	4300	6503	SO:0001583	missense	4864				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	g.chr18:21128018T>C	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1709A>G	18.37:g.21128018T>C	ENSP00000269228:p.Tyr570Cys					NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Intron	p.Y570C	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			11	2263	-	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)		570					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.1709A>G	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.394124	0.42410	.	.	ENSG00000141458	ENST00000269228;ENST00000540608	D	0.93953	-3.32	5.72	5.72	0.89469	.	0.177482	0.51477	D	0.000098	D	0.91576	0.7339	M	0.61703	1.905	0.80722	D	1	B	0.21309	0.054	B	0.25759	0.063	D	0.88677	0.3199	10	0.52906	T	0.07	-26.2757	11.1295	0.48339	0.1377:0.0:0.0:0.8623	.	570	O15118	NPC1_HUMAN	C	570;415	ENSP00000269228:Y570C	ENSP00000269228:Y570C	Y	-	2	0	NPC1	19382016	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.028000	0.70889	2.179000	0.69175	0.460000	0.39030	TAC		0.438	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		27	114	0	0	0	1	0	27	114					C	21128018	T	C	21128018	3	2	435	1	0	0	0	0	1	0	0	0	10570	1638	57	4	2187	4	NPC1	18	21128018	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	3646	21128018	56949230	7748	28673											
LAMA3	3909	broad.mit.edu	37	chr18	21396450	21396450	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgggaaaggtgtgccagCggtgagtcttcgggaggctt	6	10	18	7	3	1	1	0	1	1	0	3	3	1	3	1	5	2	1	1	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:21396450C>T	ENST00000313654.9	+	18	2387	c.2146C>T	c.(2146-2148)Cgg>Tgg	p.R716W	LAMA3_ENST00000399516.3_Splice_Site_p.R716W	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	716	Domain V.|Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			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)					GGTGTGCCAGCGGTGAGTCTT	0.572																																						ENST00000313654.9																			0				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						c.e18+1		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						129	149	143					18																	21396450		2105	4210	6315	SO:0001630	splice_region_variant	3909				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	g.chr18:21396450C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2147+1C>T	18.37:g.21396450C>T						LAMA3_ENST00000399516.3_Splice_Site_p.R716_splice	p.R716_splice	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			18	2387	+	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)		716			Domain V.|Laminin EGF-like 8.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Splice_Site	SNP	ENST00000313654.9	37	c.2147_splice	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	9.285	1.049245	0.19827	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.64991	-0.13;-0.13	5.31	1.22	0.21188	EGF-like, laminin (3);	.	.	.	.	T	0.62417	0.2426	M	0.90922	3.16	0.80722	D	1	B;B	0.14805	0.011;0.009	B;B	0.04013	0.001;0.001	T	0.58601	-0.7608	9	0.62326	D	0.03	.	2.2623	0.04070	0.1493:0.511:0.1116:0.2282	.	716;716	Q6VU67;Q16787	.;LAMA3_HUMAN	W	716;716;714	ENSP00000324532:R716W;ENSP00000382432:R716W	ENSP00000324532:R716W	R	+	1	2	LAMA3	19650448	0.969000	0.33509	0.995000	0.50966	0.197000	0.23852	0.304000	0.19228	-0.016000	0.14127	-1.069000	0.02264	CGG		0.572	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	Missense_Mutation	9	8	0	0	0	1	0	9	8					T	21396450	C	T	21396450	5	4	435	1	0	0	0	0	0	0	1	0	8607	782	27	1	2216	1	LAMA3	18	21396450	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	268432	21396450	56680798	7749	28674											
LAMA3	3909	broad.mit.edu	37	chr18	21402284	21402284	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcgtgttattctgagataCgttaaccctggaactgaagc	10	14	9	8	2	1	2	0	2	1	1	2	4	1	3	1	1	4	2	1	1	5	5	rs371550637		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:21402284C>T	ENST00000313654.9	+	20	2614	c.2373C>T	c.(2371-2373)taC>taT	p.Y791Y	LAMA3_ENST00000399516.3_Silent_p.Y791Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	791					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			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)					TTCTGAGATACGTTAACCCTG	0.383																																						ENST00000313654.9																			0				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						c.(2371-2373)taC>taT		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	,	1,3765		0,1,1882	125	115	118		2373,2373	-6.6	0	18		118	0,8226		0,0,4113	no	coding-synonymous,coding-synonymous	LAMA3	NM_001127717.1,NM_198129.1	,	0,1,5995	TT,TC,CC		0.0,0.0266,0.0083	,	791/3278,791/3334	21402284	1,11991	1883	4113	5996	SO:0001819	synonymous_variant	3909				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	g.chr18:21402284C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2373C>T	18.37:g.21402284C>T						LAMA3_ENST00000399516.3_Silent_p.Y791Y	p.Y791Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			20	2614	+	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)		791					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.2373C>T	CCDS42419.1																																																																																				0.383	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		27	48	0	0	0	1	0	27	48					T	21402284	C	T	21402284	2	4	435	1	0	0	0	0	0	0	0	1	8607	547	19	1		1	LAMA3	18	21402284	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5834	21402284	56674964	7750	28675											
LAMA3	3909	broad.mit.edu	37	chr18	21501508	21501508	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaagtatttgatttcagCacatattatctgggaggaat	12	14	11	4	0	2	2	1	2	1	0	2	4	2	4	0	3	1	2	0	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:21501508C>T	ENST00000313654.9	+	62	8377	c.8136C>T	c.(8134-8136)agC>agT	p.S2712S	LAMA3_ENST00000399516.3_Silent_p.S2656S|LAMA3_ENST00000269217.6_Silent_p.S1103S|LAMA3_ENST00000587184.1_Silent_p.S1047S|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2712	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			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)					TTGATTTCAGCACATATTATC	0.333																																						ENST00000313654.9																			0				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						c.(8134-8136)agC>agT		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						125	129	128					18																	21501508		2203	4300	6503	SO:0001819	synonymous_variant	3909				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	g.chr18:21501508C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8136C>T	18.37:g.21501508C>T						LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.S1047S|LAMA3_ENST00000269217.6_Silent_p.S1103S|LAMA3_ENST00000399516.3_Silent_p.S2656S	p.S2712S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			62	8377	+	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)		2712			Laminin G-like 2.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.8136C>T	CCDS42419.1																																																																																				0.333	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		22	54	0	0	0	1	0	22	54					T	21501508	C	T	21501508	2	4	435	1	0	0	0	0	0	0	0	1	8607	709	25	3		3	LAMA3	18	21501508	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	99224	21501508	56575740	7751	28676											
OSBPL1A	114876	broad.mit.edu	37	chr18	21946890	21946890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagctcgatgaagcggcGtgtctcccatgtcattcaac	9	9	11	12	3	3	1	2	1	1	0	5	2	3	1	1	2	3	2	1	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:21946890G>A	ENST00000319481.3	-	4	454	c.248C>T	c.(247-249)aCg>aTg	p.T83M	OSBPL1A_ENST00000582618.1_5'UTR|OSBPL1A_ENST00000399441.4_Missense_Mutation_p.T83M|RP11-621L6.2_ENST00000579347.1_RNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	83	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ATGAAGCGGCGTGTCTCCCAT	0.393																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(247-249)aCg>aTg		oxysterol binding protein-like 1A							155	130	139					18																	21946890		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21946890G>A	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.248C>T	18.37:g.21946890G>A	ENSP00000320291:p.Thr83Met					OSBPL1A_ENST00000399441.4_Missense_Mutation_p.T83M|RP11-621L6.2_ENST00000579347.1_RNA|OSBPL1A_ENST00000582618.1_5'UTR	p.T83M	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			4	454	-	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)		83					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.248C>T	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974777	0.74360	.	.	ENSG00000141447	ENST00000319481;ENST00000399441	T;T	0.75154	-0.91;-0.91	4.72	4.72	0.59763	Ankyrin repeat-containing domain (4);	0.264606	0.28538	U	0.014990	D	0.90154	0.6923	H	0.95365	3.66	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.92913	0.6349	10	0.59425	D	0.04	-16.481	16.4272	0.83818	0.0:0.0:1.0:0.0	.	83	Q9BXW6	OSBL1_HUMAN	M	83	ENSP00000320291:T83M;ENSP00000382370:T83M	ENSP00000320291:T83M	T	-	2	0	OSBPL1A	20200888	1.000000	0.71417	0.947000	0.38551	0.802000	0.45316	4.938000	0.63519	2.164000	0.68074	0.563000	0.77884	ACG		0.393	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		32	43	0	0	0	1	0	32	43					A	21946890	G	A	21946890	3	1	435	1	0	0	0	0	1	0	0	0	11277	1145	40	1	2704	1	OSBPL1A	18	21946890	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	445382	21946890	56130358	7752	28677											
IMPACT	55364	broad.mit.edu	37	chr18	22028078	22028078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatattgtgaggataaacaGaccttcttacaggattgtga	14	13	9	5	0	1	3	0	2	1	1	1	5	1	5	1	2	2	0	1	2	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:22028078G>T	ENST00000284202.4	+	9	831	c.690G>T	c.(688-690)caG>caT	p.Q230H		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	230					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)		p.Q230H(1)		endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					AGGATAAACAGACCTTCTTAC	0.353																																						ENST00000284202.4																			1	Substitution - Missense(1)	p.Q230H(1)	large_intestine(1)	endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16						c.(688-690)caG>caT		impact RWD domain protein							122	115	117					18																	22028078		2203	4300	6503	SO:0001583	missense	55364							g.chr18:22028078G>T	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"RWD domain containing 5"	615319	"Impact homolog (mouse)"			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.690G>T	18.37:g.22028078G>T	ENSP00000284202:p.Gln230His						p.Q230H	NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN			9	831	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		230					A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	c.690G>T	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903672	0.33628	.	.	ENSG00000154059	ENST00000284202	T	0.31769	1.48	4.38	4.38	0.52667	Ribosomal protein S5 domain 2-type fold (1);Impact, N-terminal (2);	0.271361	0.36444	N	0.002595	T	0.32133	0.0819	M	0.67625	2.065	0.32150	N	0.58437	B	0.14012	0.009	B	0.16722	0.016	T	0.37220	-0.9715	10	0.45353	T	0.12	.	11.4361	0.50068	0.0:0.0:0.8192:0.1808	.	230	Q9P2X3	IMPCT_HUMAN	H	230	ENSP00000284202:Q230H	ENSP00000284202:Q230H	Q	+	3	2	IMPACT	20282076	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.108000	0.41854	2.421000	0.82119	0.655000	0.94253	CAG		0.353	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439		33	38	1	0	2.32173e-10	1	2.48086e-10	33	38					T	22028078	G	T	22028078	3	4	435	1	0	0	0	0	1	0	0	0	7724	933	33	5	724	5	IMPACT	18	22028078	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	81188	22028078	56049170	7753	28678											
HRH4	59340	broad.mit.edu	37	chr18	22040736	22040736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttatcactaagcactcGtgttactttagcatttttta	11	18	4	8	1	1	0	1	0	0	0	2	0	1	0	0	0	3	3	0	0	6	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:22040736G>A	ENST00000256906.4	+	1	144	c.44G>A	c.(43-45)cGt>cAt	p.R15H	HRH4_ENST00000426880.2_Missense_Mutation_p.R15H	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	15					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	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)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	CTAAGCACTCGTGTTACTTTA	0.343																																						ENST00000256906.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(43-45)cGt>cAt		histamine receptor H4	Clozapine(DB00363)						217	183	195					18																	22040736		2202	4299	6501	SO:0001583	missense	59340					integral to membrane|plasma membrane	histamine receptor activity	g.chr18:22040736G>A	AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"GPCR / Class A : Histamine receptors"	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.44G>A	18.37:g.22040736G>A	ENSP00000256906:p.Arg15His					HRH4_ENST00000426880.2_Missense_Mutation_p.R15H	p.R15H	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN			1	144	+	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)		15					B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	ENST00000256906.4	37	c.44G>A	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.940005	0.34283	.	.	ENSG00000134489	ENST00000256906;ENST00000426880	T;T	0.37915	1.17;1.17	5.86	-8.37	0.00976	.	3.664910	0.00575	N	0.000309	T	0.11239	0.0274	N	0.03608	-0.345	0.09310	N	1	B;B;P	0.47841	0.019;0.001;0.901	B;B;B	0.35182	0.002;0.0;0.197	T	0.36696	-0.9737	10	0.38643	T	0.18	21.8006	3.7743	0.08654	0.5613:0.0878:0.1866:0.1642	.	15;15;15	B2KJ49;B2KJ48;Q9H3N8	.;.;HRH4_HUMAN	H	15	ENSP00000256906:R15H;ENSP00000402526:R15H	ENSP00000256906:R15H	R	+	2	0	HRH4	20294734	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.445000	0.06845	-1.045000	0.03250	-1.000000	0.02509	CGT		0.343	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			34	57	0	0	0	1	0	34	57					A	22040736	G	A	22040736	3	1	435	1	0	0	0	0	1	0	0	0	7358	1145	40	1	46	1	HRH4	18	22040736	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12658	22040736	56036512	7754	28679											
ZNF521	25925	broad.mit.edu	37	chr18	22804681	22804681	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattctttgaggcaagatgcGcacttatacagtttttggac	11	14	9	7	1	1	2	0	1	1	1	1	3	1	3	0	2	2	3	0	2	4	6	rs375194752		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:22804681G>A	ENST00000361524.3	-	4	3349	c.3201C>T	c.(3199-3201)tgC>tgT	p.C1067C	ZNF521_ENST00000538137.2_Silent_p.C1067C|ZNF521_ENST00000584787.1_Silent_p.C847C|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1067					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			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)					GGCAAGATGCGCACTTATACA	0.498			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				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						c.(3199-3201)tgC>tgT		zinc finger protein 521		G		0,4406		0,0,2203	74	63	67		3201	-5.1	0.8	18		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF521	NM_015461.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1067/1312	22804681	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804681G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3201C>T	18.37:g.22804681G>A						ZNF521_ENST00000584787.1_Silent_p.C847C|ZNF521_ENST00000538137.2_Silent_p.C1067C	p.C1067C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3349	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1067					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.3201C>T	CCDS32806.1																																																																																				0.498	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		21	34	0	0	0	1	0	21	34					A	22804681	G	A	22804681	2	1	435	1	0	0	0	0	0	0	0	1	17962	1079	38	1		1	ZNF521	18	22804681	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	763945	22804681	55272567	7755	28680											
KCTD1	284252	broad.mit.edu	37	chr18	24035721	24035721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccatttagtccagaggctCttgctttatccggatgacgg	7	13	11	10	2	1	2	0	1	1	1	4	3	4	3	3	3	1	2	3	3	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:24035721C>T	ENST00000408011.3	-	5	1319	c.760G>A	c.(760-762)Gag>Aag	p.E254K	KCTD1_ENST00000317932.7_Missense_Mutation_p.E254K|KCTD1_ENST00000417602.1_Missense_Mutation_p.E862K|KCTD1_ENST00000580059.1_Missense_Mutation_p.E254K|KCTD1_ENST00000579973.1_Missense_Mutation_p.E254K	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	254					negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.E254K(1)|p.E862K(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			TCCAGAGGCTCTTGCTTTATC	0.498																																						ENST00000417602.1																			2	Substitution - Missense(2)	p.E254K(1)|p.E862K(1)	lung(2)	endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(2584-2586)Gag>Aag		potassium channel tetramerization domain containing 1							105	103	104					18																	24035721		2203	4300	6503	SO:0001583	missense	284252				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	g.chr18:24035721C>T	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"potassium channel tetramerisation domain containing 1"	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.760G>A	18.37:g.24035721C>T	ENSP00000384367:p.Glu254Lys					KCTD1_ENST00000580059.1_Missense_Mutation_p.E254K|KCTD1_ENST00000317932.7_Missense_Mutation_p.E254K|KCTD1_ENST00000408011.3_Missense_Mutation_p.E254K|KCTD1_ENST00000579973.1_Missense_Mutation_p.E254K	p.E862K	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		5	2583	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		254					A8K1F5	Missense_Mutation	SNP	ENST00000408011.3	37	c.2584G>A	CCDS11888.1	.	.	.	.	.	.	.	.	.	.	C	36	5.637676	0.96693	.	.	ENSG00000134504	ENST00000317932;ENST00000417602;ENST00000408011	T;D;T	0.84660	-1.05;-1.88;-1.05	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.88826	0.6542	L	0.56769	1.78	0.80722	D	1	D	0.59767	0.986	P	0.52031	0.688	D	0.89014	0.3430	10	0.72032	D	0.01	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	254	Q719H9	KCTD1_HUMAN	K	254;862;254	ENSP00000314831:E254K;ENSP00000408405:E862K;ENSP00000384367:E254K	ENSP00000314831:E254K	E	-	1	0	KCTD1	22289719	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.320000	0.79064	2.837000	0.97791	0.591000	0.81541	GAG		0.498	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		19	35	0	0	0	1	0	19	35					T	24035721	C	T	24035721	3	4	435	1	0	0	0	0	1	0	0	0	8096	922	32	3	17	3	KCTD1	18	24035721	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1231040	24035721	54041527	7756	28681											
DSC3	1825	broad.mit.edu	37	chr18	28602420	28602420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcaggcgcgtatgcattGtgtccggttcatctctgtct	5	16	10	10	3	4	0	2	0	2	0	6	0	5	0	1	2	1	3	1	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:28602420G>A	ENST00000360428.4	-	7	904	c.824C>T	c.(823-825)aCa>aTa	p.T275I	DSC3_ENST00000434452.1_Missense_Mutation_p.T275I	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	275	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CGTATGCATTGTGTCCGGTTC	0.443																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(823-825)aCa>aTa		desmocollin 3							148	128	135					18																	28602420		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28602420G>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.824C>T	18.37:g.28602420G>A	ENSP00000353608:p.Thr275Ile					DSC3_ENST00000360428.4_Missense_Mutation_p.T275I	p.T275I	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		7	978	-			275			Cadherin 2.		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.824C>T	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736806	0.69304	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.54866	0.55;0.55	4.9	4.9	0.64082	Cadherin (4);Cadherin-like (1);	0.000000	0.34133	N	0.004227	T	0.78729	0.4329	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.83759	0.0213	10	0.87932	D	0	.	17.3489	0.87317	0.0:0.0:1.0:0.0	.	275;275	Q14574;Q14574-2	DSC3_HUMAN;.	I	275	ENSP00000353608:T275I;ENSP00000392068:T275I	ENSP00000353608:T275I	T	-	2	0	DSC3	26856418	1.000000	0.71417	0.981000	0.43875	0.393000	0.30537	7.907000	0.87430	2.683000	0.91414	0.655000	0.94253	ACA		0.443	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		40	49	0	0	0	1	0	40	49					A	28602420	G	A	28602420	3	1	435	1	0	0	0	0	1	0	0	0	4767	1377	48	3	1937	3	DSC3	18	28602420	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4566699	28602420	49474828	7757	28682											
DSC1	1823	broad.mit.edu	37	chr18	28714037	28714037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgtcttttatttgaatagGcacagaataatagttataat	14	16	6	5	0	1	2	0	1	1	1	1	2	1	2	1	1	0	2	1	1	8	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:28714037G>A	ENST00000257198.5	-	13	2194	c.1933C>T	c.(1933-1935)Cct>Tct	p.P645S	RP11-408H20.2_ENST00000581836.1_RNA|RP11-408H20.3_ENST00000582307.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.P645S	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	645	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P645S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATTTGAATAGGCACAGAATAA	0.348																																						ENST00000257197.3																			2	Substitution - Missense(2)	p.P645S(2)	large_intestine(2)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1933-1935)Cct>Tct		desmocollin 1							121	120	121					18																	28714037		2203	4299	6502	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28714037G>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1933C>T	18.37:g.28714037G>A	ENSP00000257198:p.Pro645Ser					DSC1_ENST00000257198.5_Missense_Mutation_p.P645S|RP11-408H20.2_ENST00000581836.1_RNA	p.P645S	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		13	2194	-			645			Cadherin 5.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.1933C>T	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523993	0.44866	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.60797	0.16;0.16	5.73	4.85	0.62838	Cadherin (2);Cadherin-like (1);	0.260033	0.27393	N	0.019572	T	0.79505	0.4457	M	0.87682	2.9	0.52099	D	0.999942	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.83619	0.0138	10	0.66056	D	0.02	.	16.3177	0.82934	0.0:0.1328:0.8672:0.0	.	645;645	Q08554;Q9HB00	DSC1_HUMAN;.	S	645	ENSP00000257197:P645S;ENSP00000257198:P645S	ENSP00000257197:P645S	P	-	1	0	DSC1	26968035	0.997000	0.39634	0.984000	0.44739	0.048000	0.14542	2.961000	0.49168	1.400000	0.46741	-0.291000	0.09656	CCT		0.348	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		37	48	0	0	0	1	0	37	48					A	28714037	G	A	28714037	3	1	435	1	0	0	0	0	1	0	0	0	4765	1203	42	3	807	3	DSC1	18	28714037	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	111617	28714037	49363211	7758	28683											
DSG4	147409	broad.mit.edu	37	chr18	28986322	28986322	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatgatggttctgggcaTcctgctactgatttgtaagt	7	15	12	7	0	1	2	0	2	1	0	2	2	2	2	1	3	2	5	1	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:28986322T>A	ENST00000308128.4	+	12	2054	c.1919T>A	c.(1918-1920)aTc>aAc	p.I640N	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.I640N	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	640					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTCTGGGCATCCTGCTACTG	0.458																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(1918-1920)aTc>aAc		desmoglein 4							89	88	88					18																	28986322		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28986322T>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1919T>A	18.37:g.28986322T>A	ENSP00000311859:p.Ile640Asn					RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.I640N	p.I640N	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		12	1948	+			640					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.1919T>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	T	4.920	0.170870	0.09391	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.57273	0.41;0.41	5.65	0.186	0.15105	.	1.219320	0.06383	N	0.715581	T	0.46425	0.1392	L	0.42245	1.32	0.09310	N	0.999996	B;B	0.31435	0.24;0.323	B;B	0.36289	0.221;0.162	T	0.46582	-0.9181	10	0.72032	D	0.01	.	5.6973	0.17863	0.0:0.2771:0.3437:0.3792	.	640;640	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	N	640	ENSP00000311859:I640N;ENSP00000352785:I640N	ENSP00000311859:I640N	I	+	2	0	DSG4	27240320	0.015000	0.18098	0.024000	0.17045	0.005000	0.04900	0.023000	0.13533	-0.189000	0.10482	-1.063000	0.02288	ATC		0.458	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		35	56	0	0	0	1	0	35	56					A	28986322	T	A	28986322	3	1	435	1	0	0	0	0	1	0	0	0	4779	1435	50	5	1965	5	DSG4	18	28986322	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	272285	28986322	49090926	7759	28684											
DSG4	147409	broad.mit.edu	37	chr18	28993158	28993158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggggatattattgtgaCtgagacttacggtaatgctg	10	13	12	6	1	0	2	0	2	0	1	0	4	0	3	1	3	2	2	1	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:28993158C>T	ENST00000308128.4	+	16	2858	c.2723C>T	c.(2722-2724)aCt>aTt	p.T908I	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.T927I	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	908					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTATTGTGACTGAGACTTAC	0.423																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2779-2781)aCt>aTt		desmoglein 4							168	156	160					18																	28993158		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28993158C>T	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2723C>T	18.37:g.28993158C>T	ENSP00000311859:p.Thr908Ile					RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.T908I	p.T927I	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2809	+			908					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2780C>T	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826286	0.50739	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.81330	-1.48;-1.48	5.65	5.65	0.86999	.	0.000000	0.35772	N	0.002982	D	0.90283	0.6961	M	0.78456	2.415	0.45580	D	0.998521	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.90892	0.4762	10	0.87932	D	0	.	19.3326	0.94297	0.0:1.0:0.0:0.0	.	927;908	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	I	908;927	ENSP00000311859:T908I;ENSP00000352785:T927I	ENSP00000311859:T908I	T	+	2	0	DSG4	27247156	0.996000	0.38824	1.000000	0.80357	0.194000	0.23727	3.776000	0.55356	2.655000	0.90218	0.655000	0.94253	ACT		0.423	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		56	87	0	0	0	1	0	56	87					T	28993158	C	T	28993158	3	4	435	1	0	0	0	0	1	0	0	0	4779	565	20	3	2906	3	DSG4	18	28993158	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6836	28993158	49084090	7760	28685											
DSG2	1829	broad.mit.edu	37	chr18	29126255	29126255	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgacagagagggtgtatgCtccagcttctaccttggtag	8	12	13	8	0	1	2	0	1	1	1	2	3	2	2	2	2	3	4	2	2	3	5	rs373598034	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:29126255C>A	ENST00000261590.8	+	15	3115	c.2906C>A	c.(2905-2907)gCt>gAt	p.A969D	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	969					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			AGGGTGTATGCTCCAGCTTCT	0.498																																						ENST00000261590.8																			0				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						c.(2905-2907)gCt>gAt		desmoglein 2							108	110	109					18																	29126255		1987	4167	6154	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29126255C>A	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2906C>A	18.37:g.29126255C>A	ENSP00000261590:p.Ala969Asp					RP11-75N4.2_ENST00000583706.1_RNA	p.A969D	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	3115	+			969					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2906C>A	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060370	0.55432	.	.	ENSG00000046604	ENST00000261590	T	0.76448	-1.02	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000016	D	0.85729	0.5764	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.86477	0.1789	10	0.87932	D	0	.	14.781	0.69766	0.0:0.8562:0.1438:0.0	.	969	Q14126	DSG2_HUMAN	D	969	ENSP00000261590:A969D	ENSP00000261590:A969D	A	+	2	0	DSG2	27380253	0.860000	0.29831	0.274000	0.24659	0.414000	0.31173	2.581000	0.46077	2.840000	0.97914	0.655000	0.94253	GCT		0.498	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		23	30	1	0	3.10358e-05	1	3.20141e-05	23	30					A	29126255	C	A	29126255	3	1	435	1	0	0	0	0	1	0	0	0	4777	797	28	5	2964	5	DSG2	18	29126255	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	133097	29126255	48950993	7761	28686											
B4GALT6	9331	broad.mit.edu	37	chr18	29206246	29206246	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgacattcaacttacCgtcctaaaaactggacttca	15	10	6	10	1	2	2	2	1	0	1	3	4	3	3	2	1	3	0	2	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:29206246C>T	ENST00000306851.5	-	8	1297	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q	B4GALT6_ENST00000383131.3_Splice_Site_p.R295Q|B4GALT6_ENST00000237019.7_Splice_Site_p.R295Q	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	334					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TTCAACTTACCGTCCTAAAAA	0.388																																						ENST00000306851.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20						c.e8+1		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6							112	94	100					18																	29206246		2203	4300	6503	SO:0001630	splice_region_variant	9331				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	g.chr18:29206246C>T	AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"Beta 4-glycosyltransferases"	929	protein-coding gene	gene with protein product	"UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.1001+1G>A	18.37:g.29206246C>T						B4GALT6_ENST00000237019.7_Splice_Site_p.R295_splice|B4GALT6_ENST00000383131.3_Splice_Site_p.R295_splice	p.R334_splice	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00791)		8	1297	-			334					O60514|Q6NT09	Splice_Site	SNP	ENST00000306851.5	37	c.1001_splice	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	C	34	5.293127	0.95546	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	T;T;T	0.37915	1.17;1.17;1.17	5.81	4.94	0.65067	.	0.000000	0.64402	D	0.000002	T	0.67720	0.2923	M	0.91612	3.225	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.76217	-0.3040	9	.	.	.	-14.341	14.8475	0.70270	0.0:0.9311:0.0:0.0689	.	295;295;334	Q6NT09;G3XA83;Q9UBX8	.;.;B4GT6_HUMAN	Q	334;295;295	ENSP00000306459:R334Q;ENSP00000237019:R295Q;ENSP00000372613:R295Q	.	R	-	2	0	B4GALT6	27460244	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.069000	0.71209	1.470000	0.48102	0.655000	0.94253	CGG		0.388	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775	Missense_Mutation	10	23	0	0	0	1	0	10	23					T	29206246	C	T	29206246	5	4	435	1	0	0	0	0	0	0	1	0	1275	666	23	2	155	2	B4GALT6	18	29206246	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	79991	29206246	48871002	7762	28687											
B4GALT6	9331	broad.mit.edu	37	chr18	29210963	29210963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagcaaaatgacgtggCatttctccacatccgtaata	12	12	7	10	2	1	1	0	1	1	0	3	1	2	1	2	1	2	4	2	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:29210963C>T	ENST00000306851.5	-	6	1031	c.735G>A	c.(733-735)atG>atA	p.M245I	B4GALT6_ENST00000383131.3_Missense_Mutation_p.M206I|B4GALT6_ENST00000237019.7_Missense_Mutation_p.M206I	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	245					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			AATGACGTGGCATTTCTCCAC	0.403																																						ENST00000306851.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20						c.(733-735)atG>atA		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6							167	138	148					18																	29210963		2203	4300	6503	SO:0001583	missense	9331				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	g.chr18:29210963C>T	AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"Beta 4-glycosyltransferases"	929	protein-coding gene	gene with protein product	"UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.735G>A	18.37:g.29210963C>T	ENSP00000306459:p.Met245Ile					B4GALT6_ENST00000237019.7_Missense_Mutation_p.M206I|B4GALT6_ENST00000383131.3_Missense_Mutation_p.M206I	p.M245I	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00791)		6	1031	-			245					O60514|Q6NT09	Missense_Mutation	SNP	ENST00000306851.5	37	c.735G>A	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952943	0.92660	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	T;T;T	0.34072	1.38;1.38;1.38	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	M	0.83118	2.625	0.80722	D	1	P;P;P	0.52316	0.952;0.937;0.902	P;P;P	0.56127	0.792;0.66;0.733	T	0.62455	-0.6851	10	0.49607	T	0.09	2.78	19.7586	0.96304	0.0:1.0:0.0:0.0	.	206;206;245	Q6NT09;G3XA83;Q9UBX8	.;.;B4GT6_HUMAN	I	245;206;206	ENSP00000306459:M245I;ENSP00000237019:M206I;ENSP00000372613:M206I	ENSP00000237019:M206I	M	-	3	0	B4GALT6	27464961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.750000	0.85110	2.754000	0.94517	0.585000	0.79938	ATG		0.403	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775		5	77	0	0	0	1	0	5	77					T	29210963	C	T	29210963	3	4	435	1	0	0	0	0	1	0	0	0	1275	710	25	3	429	3	B4GALT6	18	29210963	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4717	29210963	48866285	7763	28688											
KIAA1012	22878	broad.mit.edu	37	chr18	29488331	29488331	+	Frame_Shift_Del	DEL	T	T	-																															actttactgccactaaaccaTtttttagttgcagaaaatag																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:29488331delT	ENST00000283351.4	-	8	1508	c.1173delA	c.(1171-1173)aaafs	p.K391fs	TRAPPC8_ENST00000582513.1_Frame_Shift_Del_p.K391fs|TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.K337fs	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	391					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACTAAACCATTTTTTAGTTG	0.299																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1171-1173)aafs		trafficking protein particle complex 8							86	86	86					18																	29488331		2202	4298	6500	SO:0001589	frameshift_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29488331delT	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.1173delA	18.37:g.29488331delT	ENSP00000283351:p.Lys391fs					TRAPPC8_ENST00000582513.1_Frame_Shift_Del_p.K391fs|TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.K337fs	p.K391fs	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			8	1508	-			391					A0JP15|B3KME5|Q9H0L2	Frame_Shift_Del	DEL	ENST00000283351.4	37	c.1173delA	CCDS11901.1																																																																																				0.299	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		16	37						16	37	---	---	---	---	-	29488331	T	-	29488331	7	5	435	1	0	1	0	1	0	0	0	0	8204	1490	52	0	3222	0	KIAA1012	18	29488331	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	277368	29488331	48588917	7764	28689											
MEP1B	4225	broad.mit.edu	37	chr18	29793175	29793175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgcaaaggctctggtgcatCactgggtggtctgtctattg	7	12	13	9	1	4	0	1	0	3	0	4	0	4	0	0	4	1	3	0	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:29793175C>T	ENST00000269202.6	+	11	1279	c.1232C>T	c.(1231-1233)tCa>tTa	p.S411L	MEP1B_ENST00000581447.1_Missense_Mutation_p.S411L	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	411	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCTGGTGCATCACTGGGTGGT	0.453																																						ENST00000269202.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1231-1233)tCa>tTa		meprin A, beta							116	113	114					18																	29793175		1997	4176	6173	SO:0001583	missense	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29793175C>T	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.1232C>T	18.37:g.29793175C>T	ENSP00000269202:p.Ser411Leu					MEP1B_ENST00000581447.1_Missense_Mutation_p.S411L	p.S411L	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN			11	1279	+			411			MAM.		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	c.1232C>T	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875465	0.91664	.	.	ENSG00000141434	ENST00000269202	T	0.02216	4.39	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.344749	0.31909	N	0.006879	T	0.12860	0.0312	M	0.71581	2.175	0.58432	D	0.999996	D	0.71674	0.998	D	0.66716	0.946	T	0.00024	-1.2327	10	0.87932	D	0	-10.9916	20.1005	0.97872	0.0:1.0:0.0:0.0	.	411	Q16820	MEP1B_HUMAN	L	411	ENSP00000269202:S411L	ENSP00000269202:S411L	S	+	2	0	MEP1B	28047173	0.978000	0.34361	0.315000	0.25238	0.908000	0.53690	5.696000	0.68287	2.758000	0.94735	0.467000	0.42956	TCA		0.453	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		4	56	0	0	0	1	0	4	56					T	29793175	C	T	29793175	3	4	435	1	0	0	0	0	1	0	0	0	9476	838	29	3	1274	3	MEP1B	18	29793175	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	304844	29793175	48284073	7765	28690											
FAM59A	64762	broad.mit.edu	37	chr18	29850314	29850314	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttcggggtggaacaggTggggcgttcaggagccggca	6	6	20	9	4	1	0	1	0	0	0	2	2	1	2	1	8	2	3	1	8	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:29850314T>C	ENST00000269209.6	-	5	1602	c.1599A>G	c.(1597-1599)ccA>ccG	p.P533P	GAREM_ENST00000399218.4_Silent_p.P533P			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	533	Necessary for interaction with GRB2.|Pro-rich.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										GTGGAACAGGTGGGGCGTTCA	0.607																																						ENST00000399218.4																			0											c.(1597-1599)ccA>ccG		GRB2 associated, regulator of MAPK1							101	86	91					18																	29850314		2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29850314T>C	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1599A>G	18.37:g.29850314T>C						GAREM_ENST00000269209.6_Silent_p.P533P	p.P533P	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					5	1654	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.1599A>G	CCDS56057.1																																																																																				0.607	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		6	13	0	0	0	1	0	6	13					C	29850314	T	C	29850314	2	2	435	1	0	0	0	0	0	0	0	1	5592	1683	59	4		4	FAM59A	18	29850314	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	57139	29850314	48226934	7766	28691											
FAM59A	64762	broad.mit.edu	37	chr18	29867951	29867951	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaatgctttcgttggtccgGtgattcatacaaatgaggca	10	13	10	8	2	1	2	1	2	0	0	3	2	2	2	1	3	2	3	1	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:29867951G>A	ENST00000269209.6	-	4	612	c.609C>T	c.(607-609)caC>caT	p.H203H	GAREM_ENST00000578619.1_5'UTR|GAREM_ENST00000399218.4_Silent_p.H203H|RP11-344B2.2_ENST00000579580.1_RNA			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	203	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										CGTTGGTCCGGTGATTCATAC	0.478																																						ENST00000399218.4																			0											c.(607-609)caC>caT		GRB2 associated, regulator of MAPK1							114	94	101					18																	29867951		2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29867951G>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.609C>T	18.37:g.29867951G>A						GAREM_ENST00000269209.6_Silent_p.H203H|GAREM_ENST00000578619.1_5'UTR|RP11-344B2.2_ENST00000579580.1_RNA	p.H203H	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					4	664	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.609C>T	CCDS56057.1																																																																																				0.478	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		18	42	0	0	0	1	0	18	42					A	29867951	G	A	29867951	2	1	435	1	0	0	0	0	0	0	0	1	5592	1252	44	3		3	FAM59A	18	29867951	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17637	29867951	48209297	7767	28692											
ASXL3	80816	broad.mit.edu	37	chr18	31324984	31324984	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctatttccttggctacCgatgccctgaagagagtccc	8	10	11	12	1	0	2	0	1	0	1	2	5	2	2	4	2	2	2	4	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:31324984C>T	ENST00000269197.5	+	12	5172	c.5172C>T	c.(5170-5172)acC>acT	p.T1724T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1724					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTTGGCTACCGATGCCCTGA	0.557																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(5170-5172)acC>acT		additional sex combs like 3 (Drosophila)							73	75	74					18																	31324984		2023	4197	6220	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324984C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5172C>T	18.37:g.31324984C>T							p.T1724T	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	5172	+			1724					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.5172C>T	CCDS45847.1																																																																																				0.557	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			3	34	0	0	0	1	0	3	34					T	31324984	C	T	31324984	2	4	435	1	0	0	0	0	0	0	0	1	1068	639	23	2		2	ASXL3	18	31324984	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1457033	31324984	46752264	7768	28693											
NOL4	8715	broad.mit.edu	37	chr18	31537346	31537346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgaggtaagtacgtatacGttttctggcacgctcttgat	8	15	10	8	3	2	2	0	2	2	0	2	2	2	2	0	2	2	6	0	2	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:31537346G>A	ENST00000261592.5	-	8	1669	c.1372C>T	c.(1372-1374)Cgt>Tgt	p.R458C	NOL4_ENST00000535384.1_Missense_Mutation_p.R173C|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.R384C|NOL4_ENST00000535475.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	458						nucleolus (GO:0005730)	RNA binding (GO:0003723)			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						GTACGTATACGTTTTCTGGCA	0.453																																						ENST00000261592.5																			0				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						c.(1372-1374)Cgt>Tgt		nucleolar protein 4							216	178	191					18																	31537346		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31537346G>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1372C>T	18.37:g.31537346G>A	ENSP00000261592:p.Arg458Cys					NOL4_ENST00000535384.1_Missense_Mutation_p.R173C|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.R384C|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535475.1_Intron	p.R458C	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			8	1669	-			458					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1372C>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438124	0.83885	.	.	ENSG00000101746	ENST00000261592;ENST00000535384;ENST00000538587	D;D	0.85258	-1.96;-1.96	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.92489	0.7615	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.92238	0.5798	10	0.87932	D	0	-8.6583	20.5073	0.99209	0.0:0.0:1.0:0.0	.	384;458	B4DSQ0;O94818	.;NOL4_HUMAN	C	458;173;384	ENSP00000445733:R173C;ENSP00000443472:R384C	ENSP00000261592:R458C	R	-	1	0	NOL4	29791344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.855000	0.98099	0.585000	0.79938	CGT		0.453	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		20	36	0	0	0	1	0	20	36					A	31537346	G	A	31537346	3	1	435	1	0	0	0	0	1	0	0	0	10524	1145	40	1	560	1	NOL4	18	31537346	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	212362	31537346	46539902	7769	28694											
DTNA	1837	broad.mit.edu	37	chr18	32400839	32400839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacctttgcaccccatgttcCcagatcagcctgagaagcca	11	8	7	15	0	1	2	1	1	0	2	2	3	2	2	6	0	4	2	6	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:32400839C>T	ENST00000399113.3	+	8	961	c.961C>T	c.(961-963)Cca>Tca	p.P321S	DTNA_ENST00000399121.5_Missense_Mutation_p.P321S|DTNA_ENST00000283365.9_Missense_Mutation_p.P321S|DTNA_ENST00000597674.1_Missense_Mutation_p.P3S|AC068506.1_ENST00000408482.1_RNA|DTNA_ENST00000591182.1_Missense_Mutation_p.P3S|DTNA_ENST00000598334.1_Missense_Mutation_p.P321S|DTNA_ENST00000598142.1_Missense_Mutation_p.P321S|DTNA_ENST00000599844.1_Missense_Mutation_p.P3S|DTNA_ENST00000444659.1_Missense_Mutation_p.P321S|DTNA_ENST00000269191.6_Missense_Mutation_p.P321S|DTNA_ENST00000601125.1_Missense_Mutation_p.P3S|DTNA_ENST00000597599.1_Missense_Mutation_p.P321S|DTNA_ENST00000269190.7_Missense_Mutation_p.P321S|DTNA_ENST00000315456.6_Missense_Mutation_p.P321S|DTNA_ENST00000348997.5_Missense_Mutation_p.P321S|DTNA_ENST00000556414.3_Missense_Mutation_p.P3S|DTNA_ENST00000269192.7_Missense_Mutation_p.P3S|DTNA_ENST00000399097.3_Missense_Mutation_p.P3S|DTNA_ENST00000554864.3_Missense_Mutation_p.P321S|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000598774.1_Missense_Mutation_p.P321S|DTNA_ENST00000595022.1_Missense_Mutation_p.P321S			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	321					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CCCCATGTTCCCAGATCAGCC	0.493																																						ENST00000283365.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(961-963)Cca>Tca		dystrobrevin, alpha							95	80	85					18																	32400839		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32400839C>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.961C>T	18.37:g.32400839C>T	ENSP00000382064:p.Pro321Ser					DTNA_ENST00000348997.5_Missense_Mutation_p.P321S|DTNA_ENST00000399113.3_Missense_Mutation_p.P321S|DTNA_ENST00000399097.3_Missense_Mutation_p.P3S|DTNA_ENST00000444659.1_Missense_Mutation_p.P321S|DTNA_ENST00000556414.3_Missense_Mutation_p.P3S|DTNA_ENST00000595022.1_Missense_Mutation_p.P321S|DTNA_ENST00000598774.1_Missense_Mutation_p.P321S|DTNA_ENST00000269192.7_Missense_Mutation_p.P3S|DTNA_ENST00000554864.3_Missense_Mutation_p.P321S|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000315456.6_Missense_Mutation_p.P321S|DTNA_ENST00000269190.7_Missense_Mutation_p.P321S|DTNA_ENST00000591182.1_Missense_Mutation_p.P3S|DTNA_ENST00000598142.1_Missense_Mutation_p.P321S|DTNA_ENST00000597674.1_Missense_Mutation_p.P3S|DTNA_ENST00000269191.6_Missense_Mutation_p.P321S|DTNA_ENST00000598334.1_Missense_Mutation_p.P321S|DTNA_ENST00000601125.1_Missense_Mutation_p.P3S|DTNA_ENST00000599844.1_Missense_Mutation_p.P3S|DTNA_ENST00000597599.1_Missense_Mutation_p.P321S|DTNA_ENST00000399121.5_Missense_Mutation_p.P321S	p.P321S	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN			10	1312	+			321					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.961C>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.719587	0.89205	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T;T;T;T;T	0.27557	2.08;1.74;1.66;2.06;2.08;1.85;1.75;1.85	5.66	5.66	0.87406	.	0.056074	0.64402	D	0.000001	T	0.53142	0.1778	L	0.49640	1.575	0.52099	D	0.999942	D;D;D;D;B;B;B;D;D;B;P;D;P;P;B;B	0.89917	1.0;0.969;0.999;1.0;0.189;0.123;0.144;0.982;0.998;0.123;0.753;0.969;0.494;0.828;0.035;0.378	D;P;D;D;B;B;B;P;D;B;P;P;B;P;B;B	0.91635	0.999;0.868;0.993;0.999;0.222;0.169;0.117;0.858;0.997;0.169;0.607;0.725;0.176;0.612;0.013;0.169	T	0.47535	-0.9110	10	0.56958	D	0.05	-13.898	20.1047	0.97888	0.0:1.0:0.0:0.0	.	3;3;71;3;321;321;321;321;3;321;321;332;321;321;321;321	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8-8;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.;.	S	321;321;321;321;321;321;3;321;321;321;321;321;3;3;3	ENSP00000283365:P321S;ENSP00000322519:P321S;ENSP00000269190:P321S;ENSP00000336682:P321S;ENSP00000382072:P321S;ENSP00000405819:P321S;ENSP00000269191:P321S;ENSP00000382064:P321S	ENSP00000269190:P321S	P	+	1	0	DTNA	30654837	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.808000	0.69165	2.819000	0.97034	0.585000	0.79938	CCA		0.493	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		26	35	0	0	0	1	0	26	35					T	32400839	C	T	32400839	3	4	435	1	0	0	0	0	1	0	0	0	4788	623	22	3	991	3	DTNA	18	32400839	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	863493	32400839	45676409	7770	28695											
ZNF397OS	100101467	broad.mit.edu	37	chr18	32844160	32844160	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcagagtaactaaactGcctgaacttctgccggaata	13	9	10	9	1	2	2	1	1	1	1	2	4	2	4	2	2	5	1	2	2	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:32844160G>A	ENST00000420878.3	-	3	612	c.157C>T	c.(157-159)Cag>Tag	p.Q53*	ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000592278.1_Nonsense_Mutation_p.Q53*|ZSCAN30_ENST00000601405.1_Intron|ZSCAN30_ENST00000333206.5_Nonsense_Mutation_p.Q53*|ZSCAN30_ENST00000383091.2_Nonsense_Mutation_p.Q53*|ZSCAN30_ENST00000589178.1_Nonsense_Mutation_p.Q53*	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	53	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(3)|urinary_tract(1)	9						TAACTAAACTGCCTGAACTTC	0.532																																						ENST00000420878.3																			0				large_intestine(5)|lung(3)|urinary_tract(1)	9						c.(157-159)Cag>Tag		zinc finger and SCAN domain containing 30							56	58	57					18																	32844160		1568	3582	5150	SO:0001587	stop_gained	100101467				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32844160G>A	AY234408	CCDS42427.1, CCDS74207.1	18q12.2	2013-01-08	2010-07-23	2010-07-23	ENSG00000186814	ENSG00000186814		"-", "Zinc fingers, C2H2-type"	33517	protein-coding gene	gene with protein product			"zinc finger protein 397 opposite strand", "ZNF397 opposite strand"	ZNF397OS		12801647	Standard	NM_001166012		Approved	ZNF917	uc002kym.3	Q86W11		ENST00000420878.3:c.157C>T	18.37:g.32844160G>A	ENSP00000392371:p.Gln53*					ZSCAN30_ENST00000592278.1_Nonsense_Mutation_p.Q53*|ZSCAN30_ENST00000589178.1_Nonsense_Mutation_p.Q53*|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000333206.5_Nonsense_Mutation_p.Q53*|ZSCAN30_ENST00000601405.1_Intron|ZSCAN30_ENST00000383091.2_Nonsense_Mutation_p.Q53*	p.Q53*	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN			3	612	-			53			SCAN box.		B4E0N0|Q6ZNB3|Q96PN3	Nonsense_Mutation	SNP	ENST00000420878.3	37	c.157C>T	CCDS42427.1	.	.	.	.	.	.	.	.	.	.	G	37	6.492584	0.97612	.	.	ENSG00000186814	ENST00000420878;ENST00000333206;ENST00000360932;ENST00000383091	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	12.8813	0.58017	0.0:0.0:1.0:0.0	.	.	.	.	X	53;53;10;53	.	ENSP00000329738:Q53X	Q	-	1	0	ZSCAN30	31098158	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	0.950000	0.29122	2.499000	0.84300	0.637000	0.83480	CAG		0.532	ZSCAN30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442510.1	NM_001112734		8	35	0	0	0	1	0	8	35					A	32844160	G	A	32844160	4	1	435	1	0	0	0	0	0	1	0	0	17881	1328	46	3	1339	3	ZNF397OS	18	32844160	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	443321	32844160	45233088	7771	28696											
RPRD1A	55197	broad.mit.edu	37	chr18	33607203	33607203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaggtaaagaagctatcCtctgatgaactgctgcatca	14	9	8	10	0	2	3	1	2	1	1	3	3	3	3	1	1	5	4	1	1	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:33607203C>A	ENST00000399022.4	-	5	728	c.557G>T	c.(556-558)aGg>aTg	p.R186M	RPRD1A_ENST00000590898.1_Missense_Mutation_p.R150M|RPRD1A_ENST00000588737.1_Missense_Mutation_p.R150M|RPRD1A_ENST00000319040.6_Missense_Mutation_p.R186M|RPRD1A_ENST00000337059.5_Missense_Mutation_p.R150M|RPRD1A_ENST00000357384.4_Missense_Mutation_p.R186M	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	186					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						AGAAGCTATCCTCTGATGAAC	0.373																																						ENST00000399022.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						c.(556-558)aGg>aTg		regulation of nuclear pre-mRNA domain containing 1A							120	122	121					18																	33607203		2203	4300	6503	SO:0001583	missense	55197							g.chr18:33607203C>A	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"cyclin-dependent kinase 2B-inhibitor-related protein", "Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.557G>T	18.37:g.33607203C>A	ENSP00000381984:p.Arg186Met					RPRD1A_ENST00000588737.1_Missense_Mutation_p.R150M|RPRD1A_ENST00000357384.4_Missense_Mutation_p.R186M|RPRD1A_ENST00000319040.6_Missense_Mutation_p.R186M|RPRD1A_ENST00000590898.1_Missense_Mutation_p.R150M|RPRD1A_ENST00000337059.5_Missense_Mutation_p.R150M	p.R186M	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN			5	728	-			186					A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	ENST00000399022.4	37	c.557G>T	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361614	0.82353	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000337059;ENST00000319040	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.78175	0.4242	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.999	D;P;D	0.73708	0.981;0.827;0.976	T	0.80507	-0.1352	9	0.87932	D	0	-12.9806	16.6337	0.85040	0.0:1.0:0.0:0.0	.	186;186;150	Q96P16-2;Q96P16;Q96P16-3	.;RPR1A_HUMAN;.	M	186;186;150;186	.	ENSP00000314602:R186M	R	-	2	0	RPRD1A	31861201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.747000	0.55134	2.583000	0.87209	0.650000	0.86243	AGG		0.373	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		22	91	1	0	3.7963e-18	1	4.18755e-18	22	91					A	33607203	C	A	33607203	3	1	435	1	0	0	0	0	1	0	0	0	13615	681	24	5	393	5	RPRD1A	18	33607203	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	763043	33607203	44470045	7772	28697											
MOCOS	55034	broad.mit.edu	37	chr18	33779931	33779931	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacccagactgccagctgccGcatctcttctgctacccagc	8	8	7	18	1	2	1	0	0	2	1	3	1	2	1	4	0	7	3	4	0	2	2	rs3744902		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:33779931G>A	ENST00000261326.5	+	4	606	c.585G>A	c.(583-585)ccG>ccA	p.P195P		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCCAGCTGCCGCATCTCTTCT	0.557													G|||	1	0.000199681	0	0	5008	,	,		20546	0		0.001	False		,,,				2504	0					ENST00000261326.5																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(583-585)ccG>ccA		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						56	55	55					18																	33779931		2203	4300	6503	SO:0001819	synonymous_variant	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33779931G>A	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.585G>A	18.37:g.33779931G>A							p.P195P	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN			4	606	+			195						Silent	SNP	ENST00000261326.5	37	c.585G>A	CCDS11919.1																																																																																				0.557	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			7	17	0	0	0	1	0	7	17					A	33779931	G	A	33779931	2	1	435	1	0	0	0	0	0	0	0	1	9689	1074	38	1		1	MOCOS	18	33779931	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	172728	33779931	44297317	7773	28698											
FHOD3	80206	broad.mit.edu	37	chr18	34156465	34156465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgaatggagtaataaaccGcaatgaaaccattcagtggc	17	8	9	7	1	1	2	1	2	0	0	1	3	1	3	2	2	2	2	2	2	7	3	rs370403836		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:34156465G>A	ENST00000359247.4	+	6	563	c.563G>A	c.(562-564)cGc>cAc	p.R188H	FHOD3_ENST00000445677.1_Missense_Mutation_p.R188H|FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.R188H|FHOD3_ENST00000257209.4_Missense_Mutation_p.R188H	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	188	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				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)				GTAATAAACCGCAATGAAACC	0.373																																						ENST00000257209.4																			0				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						c.(562-564)cGc>cAc		formin homology 2 domain containing 3		A	HIS/ARG	1,4405	826.1+/-416.6	0,1,2202	148	130	136		563	5.7	1	18		136	0,8600		0,0,4300	no	missense	FHOD3	NM_025135.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	188/1440	34156465	1,13005	2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34156465G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.563G>A	18.37:g.34156465G>A	ENSP00000352186:p.Arg188His					FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.R188H|FHOD3_ENST00000359247.4_Missense_Mutation_p.R188H|FHOD3_ENST00000445677.1_Missense_Mutation_p.R188H	p.R188H	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			6	685	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	188			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.563G>A		.	.	.	.	.	.	.	.	.	.	A	9.170	1.020880	0.19433	2.27E-4	0.0	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.13657	2.57;2.57;2.57	5.73	5.73	0.89815	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.100549	0.64402	N	0.000002	T	0.01976	0.0062	N	0.00039	-2.505	0.21325	N	0.999728	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.38112	-0.9676	10	0.02654	T	1	.	10.0895	0.42439	0.9208:0.0:0.0792:0.0	.	188;188;188	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	H	188	ENSP00000257209:R188H;ENSP00000352186:R188H;ENSP00000411430:R188H	ENSP00000257209:R188H	R	+	2	0	FHOD3	32410463	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.074000	0.76791	0.996000	0.38943	-0.254000	0.11334	CGC		0.373	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		19	31	0	0	0	1	0	19	31					A	34156465	G	A	34156465	3	1	435	1	0	0	0	0	1	0	0	0	5883	1087	38	1	585	1	FHOD3	18	34156465	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	376534	34156465	43920783	7774	28699											
FHOD3	80206	broad.mit.edu	37	chr18	34320769	34320769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcacgacttcacctctggGcattcaaaatggattatgaa	12	11	8	10	1	3	1	2	1	1	0	3	3	3	2	1	2	1	2	1	2	4	3	rs202146466		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:34320769G>A	ENST00000359247.4	+	17	3151	c.3151G>A	c.(3151-3153)Gca>Aca	p.A1051T	FHOD3_ENST00000445677.1_Missense_Mutation_p.A1030T|FHOD3_ENST00000591635.1_Missense_Mutation_p.A264T|FHOD3_ENST00000592128.1_Missense_Mutation_p.A47T|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1243T|FHOD3_ENST00000257209.4_Missense_Mutation_p.A1068T	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1051	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				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)				TCACCTCTGGGCATTCAAAAT	0.512																																						ENST00000257209.4																			0				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						c.(3202-3204)Gca>Aca		formin homology 2 domain containing 3		G	THR/ALA	0,4406		0,0,2203	76	70	72		3202	6	1	18		72	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FHOD3	NM_025135.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	1068/1440	34320769	2,13004	2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34320769G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3151G>A	18.37:g.34320769G>A	ENSP00000352186:p.Ala1051Thr					FHOD3_ENST00000591635.1_Missense_Mutation_p.A264T|FHOD3_ENST00000592128.1_Missense_Mutation_p.A47T|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1243T|FHOD3_ENST00000359247.4_Missense_Mutation_p.A1051T|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1030T	p.A1068T	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			18	3324	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	1051			FH2.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.3202G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.535432	0.96460	0.0	2.33E-4	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.63417	-0.04;-0.04;-0.04	5.98	5.98	0.97165	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.82259	0.4998	M	0.85373	2.75	0.80722	D	1	P;D;D;D	0.89917	0.94;1.0;1.0;0.989	P;D;D;D	0.91635	0.868;0.998;0.999;0.92	T	0.82841	-0.0258	10	0.54805	T	0.06	.	19.0277	0.92939	0.0:0.0:1.0:0.0	.	272;1030;1051;1068	E7ETX5;Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;.;FHOD3_HUMAN;.	T	1068;1051;1030	ENSP00000257209:A1068T;ENSP00000352186:A1051T;ENSP00000411430:A1030T	ENSP00000257209:A1068T	A	+	1	0	FHOD3	32574767	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.838000	0.97847	0.563000	0.77884	GCA		0.512	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		4	45	0	0	0	1	0	4	45					A	34320769	G	A	34320769	3	1	435	1	0	0	0	0	1	0	0	0	5883	1203	42	3	3272	3	FHOD3	18	34320769	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	164304	34320769	43756479	7775	28700											
KIAA1328	57536	broad.mit.edu	37	chr18	34752975	34752975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagatgcgtctacatctcCtatgccaacaggaagcctaa	15	8	7	11	1	2	1	0	0	2	1	3	2	2	2	3	1	5	0	3	1	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:34752975C>A	ENST00000280020.5	+	9	1476	c.1454C>A	c.(1453-1455)cCt>cAt	p.P485H	KIAA1328_ENST00000543923.1_Missense_Mutation_p.P377H|KIAA1328_ENST00000435985.2_Missense_Mutation_p.P237H|KIAA1328_ENST00000586135.1_Missense_Mutation_p.P237H|KIAA1328_ENST00000591619.1_Missense_Mutation_p.P481H	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	485										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TCTACATCTCCTATGCCAACA	0.383																																						ENST00000591619.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1441-1443)cCt>cAt		KIAA1328							148	152	150					18																	34752975		2023	4192	6215	SO:0001583	missense	57536							g.chr18:34752975C>A	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1454C>A	18.37:g.34752975C>A	ENSP00000280020:p.Pro485His					KIAA1328_ENST00000280020.5_Missense_Mutation_p.P485H|KIAA1328_ENST00000435985.2_Missense_Mutation_p.P237H|KIAA1328_ENST00000543923.1_Missense_Mutation_p.P377H|KIAA1328_ENST00000586135.1_Missense_Mutation_p.P237H	p.P481H			Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	9	2228	+			485					Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	ENST00000280020.5	37	c.1442C>A	CCDS45855.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638442	0.67130	.	.	ENSG00000150477	ENST00000543923;ENST00000280020;ENST00000383055;ENST00000435985	T;T;T	0.66099	0.03;-0.19;0.27	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.76564	0.4005	M	0.64404	1.975	0.47621	D	0.999471	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.995	T	0.77742	-0.2474	10	0.87932	D	0	.	14.9609	0.71156	0.0:0.8584:0.1416:0.0	.	485;237;485	A8K8C3;Q86T90-3;Q86T90	.;.;K1328_HUMAN	H	377;485;485;237	ENSP00000441359:P377H;ENSP00000280020:P485H;ENSP00000390515:P237H	ENSP00000280020:P485H	P	+	2	0	KIAA1328	33006973	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.375000	0.52410	2.854000	0.98071	0.655000	0.94253	CCT		0.383	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		45	47	1	0	3.50607e-19	1	3.87742e-19	45	47					A	34752975	C	A	34752975	3	1	435	1	0	0	0	0	1	0	0	0	8225	681	24	5	1488	5	KIAA1328	18	34752975	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	432206	34752975	43324273	7776	28701											
SETBP1	26040	broad.mit.edu	37	chr18	42531860	42531860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctccctaaaggaaatcaCgctgtcccctgtgagcgagt	9	9	11	12	2	1	1	1	1	0	0	3	3	3	2	3	2	1	2	3	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:42531860C>T	ENST00000282030.5	+	4	2851	c.2555C>T	c.(2554-2556)aCg>aTg	p.T852M		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	852						nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		AAGGAAATCACGCTGTCCCCT	0.562									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				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						c.(2554-2556)aCg>aTg		SET binding protein 1							87	60	69					18																	42531860		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42531860C>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2555C>T	18.37:g.42531860C>T	ENSP00000282030:p.Thr852Met						p.T852M	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	2851	+			852					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.2555C>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634191	0.67130	.	.	ENSG00000152217	ENST00000282030	D	0.91124	-2.79	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93374	0.7887	L	0.34521	1.04	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.93393	0.6753	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	852	Q9Y6X0	SETBP_HUMAN	M	852	ENSP00000282030:T852M	ENSP00000282030:T852M	T	+	2	0	SETBP1	40785858	1.000000	0.71417	0.738000	0.30950	0.992000	0.81027	6.065000	0.71176	2.941000	0.99782	0.655000	0.94253	ACG		0.562	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		12	9	0	0	0	1	0	12	9					T	42531860	C	T	42531860	3	4	435	1	0	0	0	0	1	0	0	0	14129	536	19	1	2758	1	SETBP1	18	42531860	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7778885	42531860	35545388	7777	28702											
SETBP1	26040	broad.mit.edu	37	chr18	42643076	42643076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaagaggttcaagcggCgggagatcgaagccatccag	13	5	15	8	3	1	4	1	1	0	3	3	6	2	4	2	3	2	1	2	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:42643076C>T	ENST00000282030.5	+	6	4500	c.4204C>T	c.(4204-4206)Cgg>Tgg	p.R1402W		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1402						nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		GTTCAAGCGGCGGGAGATCGA	0.532									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				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						c.(4204-4206)Cgg>Tgg		SET binding protein 1							47	47	47					18																	42643076		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42643076C>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4204C>T	18.37:g.42643076C>T	ENSP00000282030:p.Arg1402Trp						p.R1402W	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	6	4500	+			1402					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.4204C>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999582	0.54147	.	.	ENSG00000152217	ENST00000282030	T	0.70164	-0.46	5.27	4.38	0.52667	.	0.321942	0.30437	N	0.009637	T	0.51719	0.1691	L	0.29908	0.895	0.30428	N	0.777471	P	0.52842	0.956	B	0.42882	0.401	T	0.59043	-0.7528	10	0.66056	D	0.02	.	6.1708	0.20416	0.1562:0.6919:0.0:0.1519	.	1402	Q9Y6X0	SETBP_HUMAN	W	1402	ENSP00000282030:R1402W	ENSP00000282030:R1402W	R	+	1	2	SETBP1	40897074	0.960000	0.32886	1.000000	0.80357	0.991000	0.79684	0.726000	0.25984	1.297000	0.44761	0.563000	0.77884	CGG		0.532	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		4	29	0	0	0	1	0	4	29					T	42643076	C	T	42643076	3	4	435	1	0	0	0	0	1	0	0	0	14129	759	27	1	4415	1	SETBP1	18	42643076	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	111216	42643076	35434172	7778	28703											
SETBP1	26040	broad.mit.edu	37	chr18	42643648	42643648	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtcccgagggagtgagagCgaggtccttccctagggcgg	8	6	17	10	3	0	1	0	1	0	1	3	5	3	2	3	4	1	0	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:42643648C>T	ENST00000282030.5	+	6	5072	c.4776C>T	c.(4774-4776)agC>agT	p.S1592S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1592						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S1538S(1)|p.S1592S(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGAGTGAGAGCGAGGTCCTTC	0.697									Schinzel-Giedion syndrome																													ENST00000282030.5																			2	Substitution - coding silent(2)	p.S1538S(1)|p.S1592S(1)	endometrium(2)	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						c.(4774-4776)agC>agT		SET binding protein 1							13	18	16					18																	42643648		2133	4109	6242	SO:0001819	synonymous_variant	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42643648C>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4776C>T	18.37:g.42643648C>T							p.S1592S	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	6	5072	+			1592					A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	c.4776C>T	CCDS11923.2																																																																																				0.697	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		4	3	0	0	0	1	0	4	3					T	42643648	C	T	42643648	2	4	435	1	0	0	0	0	0	0	0	1	14129	767	27	1		1	SETBP1	18	42643648	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	572	42643648	35433600	7779	28704											
SLC14A2	8170	broad.mit.edu	37	chr18	43221187	43221187	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatagccctgtcagtggcCacacccttcgagaccatcta	9	8	7	17	1	2	1	1	0	1	1	3	2	2	1	5	1	1	0	5	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:43221187C>A	ENST00000255226.6	+	8	1821	c.1005C>A	c.(1003-1005)gcC>gcA	p.A335A	SLC14A2_ENST00000586448.1_Silent_p.A335A	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	335					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTCAGTGGCCACACCCTTCG	0.577																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1003-1005)gcC>gcA		solute carrier family 14 (urea transporter), member 2							145	95	112					18																	43221187		2203	4300	6503	SO:0001819	synonymous_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43221187C>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1005C>A	18.37:g.43221187C>A						SLC14A2_ENST00000586448.1_Silent_p.A335A	p.A335A	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			8	1821	+			335					A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	c.1005C>A	CCDS11924.1																																																																																				0.577	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			15	22	1	0	8.60227e-14	1	9.36079e-14	15	22					A	43221187	C	A	43221187	2	1	435	1	0	0	0	0	0	0	0	1	14397	581	21	5		5	SLC14A2	18	43221187	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	577539	43221187	34856061	7780	28705											
SLC14A2	8170	broad.mit.edu	37	chr18	43253660	43253660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcacagcactcactattgCgacgccctttgactccatct	8	12	6	15	2	3	1	2	1	1	0	4	2	4	1	2	0	2	1	2	0	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:43253660C>T	ENST00000255226.6	+	18	3206	c.2390C>T	c.(2389-2391)gCg>gTg	p.A797V	SLC14A2_ENST00000586448.1_Missense_Mutation_p.A797V|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.A274V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	797					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCACTATTGCGACGCCCTTT	0.562																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2389-2391)gCg>gTg		solute carrier family 14 (urea transporter), member 2							134	96	109					18																	43253660		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43253660C>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2390C>T	18.37:g.43253660C>T	ENSP00000255226:p.Ala797Val					RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.A797V|SLC14A2_ENST00000589658.1_Missense_Mutation_p.A274V	p.A797V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			18	3206	+			797					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.2390C>T	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972316	0.92919	.	.	ENSG00000132874	ENST00000255226	T	0.53206	0.63	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000018	T	0.74846	0.3770	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.78540	-0.2165	10	0.87932	D	0	-27.2887	19.9421	0.97168	0.0:1.0:0.0:0.0	.	797	Q15849	UT2_HUMAN	V	797	ENSP00000255226:A797V	ENSP00000255226:A797V	A	+	2	0	SLC14A2	41507658	1.000000	0.71417	0.242000	0.24170	0.133000	0.20885	5.714000	0.68422	2.714000	0.92807	0.561000	0.74099	GCG		0.562	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			12	25	0	0	0	1	0	12	25					T	43253660	C	T	43253660	3	4	435	1	0	0	0	0	1	0	0	0	14397	768	27	1	2456	1	SLC14A2	18	43253660	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32473	43253660	34823588	7781	28706											
SLC14A1	6563	broad.mit.edu	37	chr18	43319589	43319589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggaggaatgttcatggCgctcacctggcaaacccacc	11	7	11	12	1	2	0	2	0	0	0	2	2	2	2	3	4	1	3	3	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:43319589C>T	ENST00000321925.4	+	8	1140	c.908C>T	c.(907-909)gCg>gTg	p.A303V	SLC14A1_ENST00000402943.2_Missense_Mutation_p.A198V|SLC14A1_ENST00000586142.1_Missense_Mutation_p.A303V|SLC14A1_ENST00000535474.1_Missense_Mutation_p.A171V|SLC14A1_ENST00000589700.1_Missense_Mutation_p.R254C|SLC14A1_ENST00000436407.3_Missense_Mutation_p.A359V|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000502059.2_Missense_Mutation_p.A195V|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000591541.1_Missense_Mutation_p.A7V|SLC14A1_ENST00000415427.3_Missense_Mutation_p.A359V	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	303					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						ATGTTCATGGCGCTCACCTGG	0.547																																						ENST00000321925.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(907-909)gCg>gTg		solute carrier family 14 (urea transporter), member 1							110	95	100					18																	43319589		2203	4300	6503	SO:0001583	missense	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43319589C>T	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"Blood group antigens", "Solute carriers"	10918	protein-coding gene	gene with protein product		613868	"Kidd blood group", "solute carrier family 14 (urea transporter), member 1"	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.908C>T	18.37:g.43319589C>T	ENSP00000318546:p.Ala303Val					SLC14A1_ENST00000586142.1_Missense_Mutation_p.A303V|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000535474.1_Missense_Mutation_p.A171V|SLC14A1_ENST00000502059.2_Missense_Mutation_p.A195V|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000589700.1_Missense_Mutation_p.R254C|SLC14A1_ENST00000402943.2_Missense_Mutation_p.A198V|SLC14A1_ENST00000591541.1_Missense_Mutation_p.A7V|SLC14A1_ENST00000415427.3_Missense_Mutation_p.A359V|SLC14A1_ENST00000436407.3_Missense_Mutation_p.A359V	p.A303V	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN			8	1140	+			303					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	c.908C>T	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149104	0.57151	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.62	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.39009	0.1062	L	0.42686	1.345	0.45676	D	0.998597	P;B;P	0.39809	0.58;0.165;0.689	B;B;B	0.38712	0.126;0.05;0.28	T	0.13388	-1.0511	10	0.13853	T	0.58	-9.455	13.6754	0.62451	0.0:0.9261:0.0:0.0739	.	359;195;303	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	V	303;359;195;198;171;359	ENSP00000318546:A303V;ENSP00000412309:A359V;ENSP00000442180:A195V;ENSP00000385320:A198V;ENSP00000441998:A171V;ENSP00000390637:A359V	ENSP00000318546:A303V	A	+	2	0	SLC14A1	41573587	1.000000	0.71417	0.968000	0.41197	0.975000	0.68041	4.472000	0.60189	1.378000	0.46305	0.591000	0.81541	GCG		0.547	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		18	36	0	0	0	1	0	18	36					T	43319589	C	T	43319589	3	4	435	1	0	0	0	0	1	0	0	0	14396	768	27	1	1102	1	SLC14A1	18	43319589	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	65929	43319589	34757659	7782	28707											
KIAA1632	57724	broad.mit.edu	37	chr18	43479517	43479517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaacctgctgagattccCgaagagctgcggttctgaaa	11	8	12	10	2	1	3	0	2	1	2	2	6	2	3	2	1	5	4	2	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:43479517C>T	ENST00000282041.5	-	27	4695	c.4661G>A	c.(4660-4662)cGg>cAg	p.R1554Q	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1554					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTGAGATTCCCGAAGAGCTGC	0.453																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(4660-4662)cGg>cAg		ectopic P-granules autophagy protein 5 homolog (C. elegans)							68	63	65					18																	43479517		1938	4152	6090	SO:0001583	missense	57724				autophagy			g.chr18:43479517C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4661G>A	18.37:g.43479517C>T	ENSP00000282041:p.Arg1554Gln					EPG5_ENST00000585906.1_5'UTR	p.R1554Q	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			27	4695	-			1554					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.4661G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520590	0.85495	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.10288	2.89	5.96	5.96	0.96718	.	.	.	.	.	T	0.22742	0.0549	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	P	0.51701	0.677	T	0.00205	-1.1922	9	0.27785	T	0.31	-7.2971	20.422	0.99049	0.0:1.0:0.0:0.0	.	1554	Q9HCE0	EPG5_HUMAN	Q	1554;429	ENSP00000282041:R1554Q	ENSP00000282041:R1554Q	R	-	2	0	EPG5	41733515	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	6.382000	0.73167	2.832000	0.97577	0.655000	0.94253	CGG		0.453	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		11	21	0	0	0	1	0	11	21					T	43479517	C	T	43479517	3	4	435	1	0	0	0	0	1	0	0	0	8249	652	23	2	3150	2	KIAA1632	18	43479517	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	159928	43479517	34597731	7783	28708											
KIAA1632	57724	broad.mit.edu	37	chr18	43484051	43484051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgaaactcatgatagatgCgctccatgttcaaatactcc	12	11	6	12	1	2	3	2	2	0	1	4	3	4	3	3	0	3	2	3	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:43484051C>T	ENST00000282041.5	-	25	4395	c.4361G>A	c.(4360-4362)cGc>cAc	p.R1454H	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1454					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.R1454H(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATGATAGATGCGCTCCATGTT	0.443																																						ENST00000282041.5																			1	Substitution - Missense(1)	p.R1454H(1)	large_intestine(1)	NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(4360-4362)cGc>cAc		ectopic P-granules autophagy protein 5 homolog (C. elegans)							146	140	142					18																	43484051		1982	4168	6150	SO:0001583	missense	57724				autophagy			g.chr18:43484051C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4361G>A	18.37:g.43484051C>T	ENSP00000282041:p.Arg1454His					EPG5_ENST00000585906.1_5'UTR	p.R1454H	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			25	4395	-			1454					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.4361G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673560	0.88445	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.11063	2.81	6.04	6.04	0.98038	.	.	.	.	.	T	0.29976	0.0750	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.00074	-1.2124	9	0.62326	D	0.03	-10.9235	16.2018	0.82087	0.1408:0.8592:0.0:0.0	.	1454	Q9HCE0	EPG5_HUMAN	H	1454;329	ENSP00000282041:R1454H	ENSP00000282041:R1454H	R	-	2	0	EPG5	41738049	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.041000	0.64196	2.873000	0.98535	0.563000	0.77884	CGC		0.443	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		14	26	0	0	0	1	0	14	26					T	43484051	C	T	43484051	3	4	435	1	0	0	0	0	1	0	0	0	8249	768	27	1	3458	1	KIAA1632	18	43484051	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4534	43484051	34593197	7784	28709											
HAUS1	115106	broad.mit.edu	37	chr18	43685173	43685174	+	Frame_Shift_Ins	INS	-	-	A																															ggttaggttgctgcgtggttINSaaaaaaaatatttggagatc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:43685173_43685174insA	ENST00000282058.6	+	2	124_125	c.44_45insA	c.(43-48)ttaaaafs	p.LK15fs	ATP5A1_ENST00000282050.2_5'Flank|HAUS1_ENST00000585518.1_Frame_Shift_Ins_p.LK15fs	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	15					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GCTGCGTGGTTAAAAAAAATAT	0.391																																					NSCLC(79;183 1423 5813 15597 38427)	ENST00000282058.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(43-45)taafs		HAUS augmin-like complex, subunit 1																																				SO:0001589	frameshift_variant	115106				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr18:43685173_43685174insA	AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"HAUS augmin-like complex subunits"	25174	protein-coding gene	gene with protein product		608775	"coiled-coil domain containing 5 (spindle associated)"	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.52dupA	18.37:g.43685181_43685181dupA	ENSP00000282058:p.Leu15fs					HAUS1_ENST00000585518.1_Frame_Shift_Ins_p.*15fs	p.*15fs	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN			2	124_125	+			15					B2RDM7|Q8N837	Frame_Shift_Ins	INS	ENST00000282058.6	37	c.44_45insA	CCDS11928.1																																																																																				0.391	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443		21	36						21	36	---	---	---	---	A	43685174	-	A	43685173	7	5	435	1	0	1	1	0	0	0	0	0	6965	1764	61	0	50	0	HAUS1	18	43685173	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	201122	43685173	34392075	7785	28710											
HAUS1	115106	broad.mit.edu	37	chr18	43698194	43698194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgtgaatttttcccccGccaatctctctagcactggt	8	13	8	12	1	2	2	0	1	2	1	4	2	3	2	3	1	1	1	3	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:43698194G>A	ENST00000282058.6	+	3	333	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Intron	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	85					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TTTTTCCCCCGCCAATCTCTC	0.408																																					NSCLC(79;183 1423 5813 15597 38427)	ENST00000282058.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(253-255)Gcc>Acc		HAUS augmin-like complex, subunit 1							111	107	109					18																	43698194		2203	4300	6503	SO:0001583	missense	115106				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr18:43698194G>A	AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"HAUS augmin-like complex subunits"	25174	protein-coding gene	gene with protein product		608775	"coiled-coil domain containing 5 (spindle associated)"	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.253G>A	18.37:g.43698194G>A	ENSP00000282058:p.Ala85Thr					HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Intron	p.A85T	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN			3	333	+			85					B2RDM7|Q8N837	Missense_Mutation	SNP	ENST00000282058.6	37	c.253G>A	CCDS11928.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028922	0.35797	.	.	ENSG00000152240	ENST00000282058	.	.	.	5.29	4.18	0.49190	.	0.290613	0.37012	N	0.002300	T	0.21674	0.0522	N	0.17594	0.5	0.31772	N	0.631946	B	0.23891	0.093	B	0.12837	0.008	T	0.08994	-1.0695	9	0.26408	T	0.33	-20.5652	5.5828	0.17258	0.2066:0.0:0.7934:0.0	.	85	Q96CS2	HAUS1_HUMAN	T	85	.	ENSP00000282058:A85T	A	+	1	0	HAUS1	41952192	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.376000	0.44292	2.623000	0.88846	0.650000	0.86243	GCC		0.408	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443		44	59	0	0	0	1	0	44	59					A	43698194	G	A	43698194	3	1	435	1	0	0	0	0	1	0	0	0	6965	1087	38	1	263	1	HAUS1	18	43698194	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13021	43698194	34379054	7786	28711											
C18orf25	147339	broad.mit.edu	37	chr18	43796461	43796461	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacctgctgcaggacagtagTaccagtgatagtgacctgac	12	8	11	10	0	0	3	0	3	0	0	0	4	0	4	3	1	4	4	3	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:43796461T>C	ENST00000282059.6	+	2	989	c.615T>C	c.(613-615)agT>agC	p.S205S	C18orf25_ENST00000321319.6_Silent_p.S205S	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	205										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						AGGACAGTAGTACCAGTGATA	0.498																																						ENST00000282059.6																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						c.(613-615)agT>agC		chromosome 18 open reading frame 25							62	63	63					18																	43796461		2059	4194	6253	SO:0001819	synonymous_variant	147339							g.chr18:43796461T>C	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"ARKadia-like 1"					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.615T>C	18.37:g.43796461T>C						C18orf25_ENST00000321319.6_Silent_p.S205S	p.S205S	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN			2	989	+			205					A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Silent	SNP	ENST00000282059.6	37	c.615T>C	CCDS42430.1																																																																																				0.498	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055		16	20	0	0	0	1	0	16	20					C	43796461	T	C	43796461	2	2	435	1	0	0	0	0	0	0	0	1	1899	1635	57	4		4	C18orf25	18	43796461	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	98267	43796461	34280787	7787	28712											
C18orf25	147339	broad.mit.edu	37	chr18	43843064	43843064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggatgaggatagcaggCgtaaatacctactgtaatac	13	10	10	8	1	0	1	0	1	0	0	0	3	0	3	2	3	4	3	2	3	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:43843064C>T	ENST00000282059.6	+	5	1569	c.1195C>T	c.(1195-1197)Cgt>Tgt	p.R399C	C18orf25_ENST00000321319.6_Missense_Mutation_p.R338C	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	399										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						GGATAGCAGGCGTAAATACCT	0.473																																						ENST00000282059.6																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						c.(1195-1197)Cgt>Tgt		chromosome 18 open reading frame 25							60	61	61					18																	43843064		2026	4192	6218	SO:0001583	missense	147339							g.chr18:43843064C>T	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"ARKadia-like 1"					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.1195C>T	18.37:g.43843064C>T	ENSP00000282059:p.Arg399Cys					C18orf25_ENST00000321319.6_Missense_Mutation_p.R338C	p.R399C	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN			5	1569	+			399					A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Missense_Mutation	SNP	ENST00000282059.6	37	c.1195C>T	CCDS42430.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043780	0.75732	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.31	5.31	0.75309	.	0.056270	0.64402	D	0.000001	T	0.74351	0.3705	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.67231	0.832;0.95	T	0.76753	-0.2843	9	0.87932	D	0	-6.4947	18.9981	0.92821	0.0:1.0:0.0:0.0	.	338;399	Q96B23-2;Q96B23	.;CR025_HUMAN	C	399;338	.	ENSP00000282059:R399C	R	+	1	0	C18orf25	42097062	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.349000	0.73013	2.476000	0.83614	0.563000	0.77884	CGT		0.473	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055		4	5	0	0	0	1	0	4	5					T	43843064	C	T	43843064	3	4	435	1	0	0	0	0	1	0	0	0	1899	768	27	1	1209	1	C18orf25	18	43843064	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	46603	43843064	34234184	7788	28713											
RNF165	494470	broad.mit.edu	37	chr18	44013447	44013447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcctggaagcccagcaccGcaggctggtctcgcacccca	7	5	11	18	2	1	0	0	0	1	0	3	1	2	1	5	3	2	5	5	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:44013447G>A	ENST00000269439.7	+	2	407	c.356G>A	c.(355-357)cGc>cAc	p.R119H	RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	119							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCCCAGCACCGCAGGCTGGTC	0.701																																						ENST00000269439.7																			0				NS(1)|large_intestine(4)|lung(6)	11						c.(355-357)cGc>cAc		ring finger protein 165							31	31	31					18																	44013447		2195	4294	6489	SO:0001583	missense	494470						zinc ion binding	g.chr18:44013447G>A	BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"RING-type (C3HC4) zinc fingers"	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.356G>A	18.37:g.44013447G>A	ENSP00000269439:p.Arg119His					RNF165_ENST00000543885.1_Intron	p.R119H	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN		READ - Rectum adenocarcinoma(1;0.0873)	2	407	+			119					B3KVD1	Missense_Mutation	SNP	ENST00000269439.7	37	c.356G>A	CCDS32823.1	.	.	.	.	.	.	.	.	.	.	G	33	5.208463	0.95069	.	.	ENSG00000141622	ENST00000269439	T	0.24151	1.87	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.32745	-0.9895	10	0.42905	T	0.14	-9.001	17.3155	0.87222	0.0:0.0:1.0:0.0	.	119	Q6ZSG1	RN165_HUMAN	H	119	ENSP00000269439:R119H	ENSP00000269439:R119H	R	+	2	0	RNF165	42267445	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.163000	0.94750	2.523000	0.85059	0.557000	0.71058	CGC		0.701	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470		7	12	0	0	0	1	0	7	12					A	44013447	G	A	44013447	3	1	435	1	0	0	0	0	1	0	0	0	13456	1087	38	1	362	1	RNF165	18	44013447	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	170383	44013447	34063801	7789	28714											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260279	44260279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggctgagccagtagcgcGacacgttgaccaggtactgc	9	6	13	13	3	0	2	0	2	0	0	0	3	0	2	3	2	4	4	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:44260279G>A	ENST00000315087.7	-	7	1517	c.857C>T	c.(856-858)tCg>tTg	p.S286L	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S322L|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S255L	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	286					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCAGTAGCGCGACACGTTGAC	0.617																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(856-858)tCg>tTg		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							109	81	91					18																	44260279		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44260279G>A	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"Sialyltransferases"	17827	protein-coding gene	gene with protein product	"ST8Sia V"	607162	"sialyltransferase 8E (alpha-2, 8-polysialytransferase)"	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.857C>T	18.37:g.44260279G>A	ENSP00000321343:p.Ser286Leu					ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S255L|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S322L	p.S286L	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN			7	1517	-			286					B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.857C>T	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664650	0.67700	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.30448	1.53;1.53;1.53	5.51	5.51	0.81932	.	0.144412	0.49305	D	0.000160	T	0.33847	0.0877	L	0.43152	1.355	0.48341	D	0.999633	P;B;D	0.58970	0.948;0.134;0.984	B;B;P	0.47827	0.254;0.067;0.558	T	0.03750	-1.1007	10	0.11182	T	0.66	-5.6475	19.4172	0.94706	0.0:0.0:1.0:0.0	.	255;322;286	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	L	286;322;255	ENSP00000321343:S286L;ENSP00000445492:S322L;ENSP00000443683:S255L	ENSP00000321343:S286L	S	-	2	0	ST8SIA5	42514277	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.205000	0.65186	2.584000	0.87258	0.561000	0.74099	TCG		0.617	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		16	14	0	0	0	1	0	16	14					A	44260279	G	A	44260279	3	1	435	1	0	0	0	0	1	0	0	0	15234	1059	37	2	277	2	ST8SIA5	18	44260279	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	246832	44260279	33816969	7790	28715											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260380	44260380	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacacgtcggtgttgcgCgtgttgtagaaggcaggcag	8	9	17	7	4	0	1	0	0	0	1	1	2	0	2	0	4	1	5	0	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:44260380C>T	ENST00000315087.7	-	7	1416	c.756G>A	c.(754-756)acG>acA	p.T252T	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Silent_p.T288T|ST8SIA5_ENST00000536490.1_Silent_p.T221T	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	252					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CGGTGTTGCGCGTGTTGTAGA	0.587																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(754-756)acG>acA		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							93	53	66					18																	44260380		2203	4300	6503	SO:0001819	synonymous_variant	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44260380C>T	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"Sialyltransferases"	17827	protein-coding gene	gene with protein product	"ST8Sia V"	607162	"sialyltransferase 8E (alpha-2, 8-polysialytransferase)"	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.756G>A	18.37:g.44260380C>T						ST8SIA5_ENST00000536490.1_Silent_p.T221T|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Silent_p.T288T	p.T252T	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN			7	1416	-			252					B7Z1K9|Q6IAW7	Silent	SNP	ENST00000315087.7	37	c.756G>A	CCDS11930.1																																																																																				0.587	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		5	19	0	0	0	1	0	5	19					T	44260380	C	T	44260380	2	4	435	1	0	0	0	0	0	0	0	1	15234	755	27	1		1	ST8SIA5	18	44260380	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	101	44260380	33816868	7791	28716											
TCEB3C	162699	broad.mit.edu	37	chr18	44555064	44555064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctgtctctcgagcgagtgCggcattgtctttctctgtgc	4	15	11	11	3	4	0	0	0	4	0	7	2	4	0	0	1	3	1	0	1	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:44555064C>T	ENST00000330682.2	-	1	1385	c.1150G>A	c.(1150-1152)Gca>Aca	p.A384T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	384	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CGAGCGAGTGCGGCATTGTCT	0.572																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(1150-1152)Gca>Aca		transcription elongation factor B polypeptide 3C (elongin A3)							480	437	451					18																	44555064		1969	3981	5950	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555064C>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"elongin A3"					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1150G>A	18.37:g.44555064C>T	ENSP00000328232:p.Ala384Thr					KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	p.A384T	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN			1	1385	-			384			Activation domain (By similarity).			Missense_Mutation	SNP	ENST00000330682.2	37	c.1150G>A	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	c	7.670	0.686837	0.14973	.	.	ENSG00000183791	ENST00000330682	T	0.30981	1.51	1.75	0.785	0.18584	.	0.741625	0.11118	N	0.597712	T	0.15782	0.0380	N	0.24115	0.695	0.09310	N	1	D	0.55605	0.972	B	0.39840	0.311	T	0.14309	-1.0477	10	0.20046	T	0.44	-1.9857	5.8745	0.18822	0.0:0.6651:0.3349:0.0	.	384	Q8NG57	ELOA3_HUMAN	T	384	ENSP00000328232:A384T	ENSP00000328232:A384T	A	-	1	0	TCEB3C	42809062	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.322000	0.19576	0.287000	0.22375	0.485000	0.47835	GCA		0.572	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		23	908	0	0	0	1	0	23	908					T	44555064	C	T	44555064	3	4	435	1	0	0	0	0	1	0	0	0	15680	768	27	1	2137	1	TCEB3C	18	44555064	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	294684	44555064	33522184	7792	28717											
TCEB3C	162699	broad.mit.edu	37	chr18	44555201	44555201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccggaggcactgctggCgcagcgtcggcacctggagc	6	4	16	15	4	0	0	0	0	0	0	1	2	0	2	2	5	3	5	2	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:44555201C>T	ENST00000330682.2	-	1	1248	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	338	Activation domain. {ECO:0000250}.|Interaction with elongin BC. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCACTGCTGGCGCAGCGTCGG	0.652																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(1012-1014)cGc>cAc		transcription elongation factor B polypeptide 3C (elongin A3)							33	34	33					18																	44555201		1599	3232	4831	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555201C>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"elongin A3"					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1013G>A	18.37:g.44555201C>T	ENSP00000328232:p.Arg338His					KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	p.R338H	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN			1	1248	-			338			Activation domain (By similarity).|Interaction with elongin BC (By similarity).			Missense_Mutation	SNP	ENST00000330682.2	37	c.1013G>A	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	c	0.011	-1.693654	0.00731	.	.	ENSG00000183791	ENST00000330682	T	0.10860	2.83	1.45	-2.91	0.05631	.	1.887960	0.03121	N	0.163726	T	0.04543	0.0124	L	0.27053	0.805	0.09310	N	1	D	0.60160	0.987	B	0.32533	0.147	T	0.40040	-0.9584	10	0.13108	T	0.6	-1.1715	2.1358	0.03761	0.3199:0.3044:0.0:0.3756	.	338	Q8NG57	ELOA3_HUMAN	H	338	ENSP00000328232:R338H	ENSP00000328232:R338H	R	-	2	0	TCEB3C	42809199	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.045000	0.12003	-1.091000	0.03065	-0.350000	0.07774	CGC		0.652	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		19	715	0	0	0	1	0	19	715					T	44555201	C	T	44555201	3	4	435	1	0	0	0	0	1	0	0	0	15680	768	27	1	2274	1	TCEB3C	18	44555201	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	137	44555201	33522047	7793	28718											
TCEB3C	162699	broad.mit.edu	37	chr18	44555262	44555262	+	Missense_Mutation	SNP	C	C	T																															cgagtacaccggcatcttagCgttcactctgcgtccaggga																								rs541677478		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:44555262C>T	ENST00000330682.2	-	1	1187	c.952G>A	c.(952-954)Gct>Act	p.A318T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	318	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGCATCTTAGCGTTCACTCTG	0.652																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(952-954)Gct>Act		transcription elongation factor B polypeptide 3C (elongin A3)							193	203	199					18																	44555262		1901	3717	5618	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555262C>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"elongin A3"					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.952G>A	18.37:g.44555262C>T	ENSP00000328232:p.Ala318Thr					KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	p.A318T	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN			1	1187	-			318			Activation domain (By similarity).			Missense_Mutation	SNP	ENST00000330682.2	37	c.952G>A	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	c	7.348	0.622273	0.14193	.	.	ENSG00000183791	ENST00000330682	T	0.11712	2.75	1.1	-2.21	0.06973	.	0.437986	0.19287	N	0.118005	T	0.04724	0.0128	L	0.28274	0.84	0.09310	N	1	B	0.29232	0.238	B	0.12156	0.007	T	0.25813	-1.0121	10	0.44086	T	0.13	-10.3348	1.8769	0.03220	0.3863:0.332:0.0:0.2817	.	318	Q8NG57	ELOA3_HUMAN	T	318	ENSP00000328232:A318T	ENSP00000328232:A318T	A	-	1	0	TCEB3C	42809260	0.993000	0.37304	0.001000	0.08648	0.003000	0.03518	1.618000	0.36954	-0.811000	0.04369	-0.515000	0.04445	GCT		0.652	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		12	733	0	0	0	1	0	12	733					T	44555262	C	T	44555262	3	4	435	1	0	0	0	0	1	0	0	0	15680	768	27	1	2335	1	TCEB3C	18	44555262	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	61	44555262	33521986	7794	28719	132	2									
TCEB3C	162699	broad.mit.edu	37	chr18	44555268	44555268	+	Missense_Mutation	SNP	C	C	A																															caccggcatcttagcgttcaCtctgcgtccagggaaagcag																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:44555268C>A	ENST00000330682.2	-	1	1181	c.946G>T	c.(946-948)Gtg>Ttg	p.V316L	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	316	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTAGCGTTCACTCTGCGTCCA	0.642																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(946-948)Gtg>Ttg		transcription elongation factor B polypeptide 3C (elongin A3)							222	230	227					18																	44555268		1905	3725	5630	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555268C>A	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"elongin A3"					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.946G>T	18.37:g.44555268C>A	ENSP00000328232:p.Val316Leu					KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	p.V316L	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN			1	1181	-			316			Activation domain (By similarity).			Missense_Mutation	SNP	ENST00000330682.2	37	c.946G>T	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	c	0.011	-1.698847	0.00725	.	.	ENSG00000183791	ENST00000330682	T	0.10099	2.91	1.1	-1.26	0.09376	.	1.560830	0.04245	N	0.337565	T	0.05181	0.0138	N	0.13140	0.3	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.33292	-0.9874	10	0.07325	T	0.83	-2.4254	3.5686	0.07909	0.0:0.4301:0.0:0.5699	.	316	Q8NG57	ELOA3_HUMAN	L	316	ENSP00000328232:V316L	ENSP00000328232:V316L	V	-	1	0	TCEB3C	42809266	0.010000	0.17322	0.001000	0.08648	0.002000	0.02628	-0.364000	0.07583	-0.329000	0.08527	0.485000	0.47835	GTG		0.642	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		16	761	1	0	7.41877e-09	1	7.84611e-09	16	761					A	44555268	C	A	44555268	3	1	435	1	0	0	0	0	1	0	0	0	15680	565	20	5	2341	5	TCEB3C	18	44555268	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6	44555268	33521980	7795	28720	132	2									
TCEB3B	51224	broad.mit.edu	37	chr18	44559587	44559587	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctggctggagggagtGtggctgcttcccgcgggctt	2	11	17	11	2	1	0	0	0	1	0	2	2	2	2	1	5	2	5	1	5	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:44559587G>A	ENST00000332567.4	-	1	2401	c.2049C>T	c.(2047-2049)caC>caT	p.H683H	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	683					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGGAGGGAGTGTGGCTGCTTC	0.627																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2047-2049)caC>caT		transcription elongation factor B polypeptide 3B (elongin A2)							37	43	41					18																	44559587		2200	4297	6497	SO:0001819	synonymous_variant	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44559587G>A	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.2049C>T	18.37:g.44559587G>A						KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	p.H683H	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	2401	-			683					Q9P2V9	Silent	SNP	ENST00000332567.4	37	c.2049C>T	CCDS11932.1																																																																																				0.627	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		33	33	0	0	0	1	0	33	33					A	44559587	G	A	44559587	2	1	435	1	0	0	0	0	0	0	0	1	15679	1368	48	3		3	TCEB3B	18	44559587	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4319	44559587	33517661	7796	28721											
ZBTB7C	201501	broad.mit.edu	37	chr18	45567115	45567115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgatctccaggcacaCgttcacgatgcactggatct	9	10	8	14	2	3	1	1	1	2	0	5	3	4	2	2	2	1	3	2	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:45567115C>T	ENST00000588982.1	-	3	865	c.364G>A	c.(364-366)Gtg>Atg	p.V122M	ZBTB7C_ENST00000535628.2_Missense_Mutation_p.V122M|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.V122M|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.V122M|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.V122M			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	122							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TCCAGGCACACGTTCACGATG	0.587																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(364-366)Gtg>Atg		zinc finger and BTB domain containing 7C							132	95	108					18																	45567115		2203	4300	6503	SO:0001583	missense	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45567115C>T	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31700	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 36"	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.364G>A	18.37:g.45567115C>T	ENSP00000468782:p.Val122Met					ZBTB7C_ENST00000586438.1_Missense_Mutation_p.V122M|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.V122M|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.V122M|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.V122M	p.V122M			A1YPR0	ZBT7C_HUMAN			3	865	-			122					O73453	Missense_Mutation	SNP	ENST00000588982.1	37	c.364G>A	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305682	0.81247	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.67865	-0.29;-0.29	5.34	5.34	0.76211	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.80412	0.4618	L	0.56396	1.775	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.981;0.981	T	0.81805	-0.0764	10	0.72032	D	0.01	.	19.0131	0.92882	0.0:1.0:0.0:0.0	.	122;122;122	B4DKU0;B2RG49;A1YPR0	.;.;ZBT7C_HUMAN	M	122	ENSP00000439781:V122M;ENSP00000328732:V122M	ENSP00000328732:V122M	V	-	1	0	ZBTB7C	43821113	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.491000	0.84063	0.561000	0.74099	GTG		0.587	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		4	23	0	0	0	1	0	4	23					T	45567115	C	T	45567115	3	4	435	1	0	0	0	0	1	0	0	0	17552	536	19	1	1503	1	ZBTB7C	18	45567115	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1007528	45567115	32510133	7797	28722											
SMAD7	4092	broad.mit.edu	37	chr18	46447865	46447865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcccgtccacggctgctgCataaactcgtggtcattggg	8	9	12	12	3	1	0	1	0	0	0	3	0	2	0	2	3	4	3	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:46447865C>T	ENST00000262158.2	-	4	1444	c.1158G>A	c.(1156-1158)atG>atA	p.M386I	SMAD7_ENST00000591805.1_Missense_Mutation_p.M171I|SMAD7_ENST00000589634.1_Missense_Mutation_p.M385I|SMAD7_ENST00000585986.1_5'Flank	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	386	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ACGGCTGCTGCATAAACTCGT	0.592																																						ENST00000262158.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10						c.(1156-1158)atG>atA		SMAD family member 7							72	63	66					18																	46447865		2203	4300	6503	SO:0001583	missense	4092				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	g.chr18:46447865C>T	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"SMADs"	6773	protein-coding gene	gene with protein product		602932	"MAD, mothers against decapentaplegic homolog 7 (Drosophila)", "SMAD, mothers against DPP homolog 7 (Drosophila)"	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.1158G>A	18.37:g.46447865C>T	ENSP00000262158:p.Met386Ile					SMAD7_ENST00000591805.1_Missense_Mutation_p.M171I|SMAD7_ENST00000589634.1_Missense_Mutation_p.M385I	p.M386I	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN			4	1444	-	Colorectal(1;0.0518)		386			MH2.		B7Z773|K7EQ10|O14740|Q6DK23	Missense_Mutation	SNP	ENST00000262158.2	37	c.1158G>A	CCDS11936.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962152	0.34659	.	.	ENSG00000101665	ENST00000545051;ENST00000262158	D	0.98684	-5.07	5.66	5.66	0.87406	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.278232	0.47093	D	0.000245	D	0.94994	0.8380	N	0.03608	-0.345	0.53688	D	0.999979	B;B	0.18013	0.004;0.025	B;B	0.19666	0.004;0.026	D	0.90717	0.4632	10	0.36615	T	0.2	.	19.7417	0.96234	0.0:1.0:0.0:0.0	.	386;198	O15105;B3KYA8	SMAD7_HUMAN;.	I	171;386	ENSP00000262158:M386I	ENSP00000262158:M386I	M	-	3	0	SMAD7	44701863	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.679000	0.54634	2.658000	0.90341	0.591000	0.81541	ATG		0.592	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904		9	19	0	0	0	1	0	9	19					T	46447865	C	T	46447865	3	4	435	1	0	0	0	0	1	0	0	0	14763	710	25	3	126	3	SMAD7	18	46447865	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	880750	46447865	31629383	7798	28723											
DYM	54808	broad.mit.edu	37	chr18	46784852	46784853	+	Frame_Shift_Ins	INS	-	-	T																															gttctgaataccaagtaataINSttttttagtatctgtaatgg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:46784852_46784853insT	ENST00000269445.6	-	12	1719_1720	c.1262_1263insA	c.(1261-1263)aatfs	p.N421fs	DYM_ENST00000442713.2_Frame_Shift_Ins_p.N231fs	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	421					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						ACCAAGTAATATTTTTTAGTAT	0.342																																						ENST00000269445.6																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1261-1263)aatfs		dymeclin																																				SO:0001589	frameshift_variant	54808					Golgi apparatus		g.chr18:46784852_46784853insT	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1263dupA	18.37:g.46784858_46784858dupT	ENSP00000269445:p.Asn421fs					DYM_ENST00000442713.2_Frame_Shift_Ins_p.N231fs	p.N421fs	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN			12	1719_1720	-			421					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Frame_Shift_Ins	INS	ENST00000269445.6	37	c.1262_1263insA	CCDS11937.1																																																																																				0.342	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		10	31						10	31	---	---	---	---	T	46784853	-	T	46784852	7	5	435	1	0	1	1	0	0	0	0	0	4840	446	16	0	770	0	DYM	18	46784852	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	336987	46784852	31292396	7799	28724											
LIPG	9388	broad.mit.edu	37	chr18	47093932	47093932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccagctttacacggatGcggtcaataataccagggtg	11	8	10	12	2	1	0	1	0	0	0	1	1	1	1	3	3	4	1	3	3	4	4	rs144530815		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:47093932G>A	ENST00000261292.4	+	3	678	c.400G>A	c.(400-402)Gcg>Acg	p.A134T	LIPG_ENST00000580036.1_Missense_Mutation_p.A134T|LIPG_ENST00000577628.1_Missense_Mutation_p.A170T|LIPG_ENST00000427224.2_Missense_Mutation_p.A134T	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	134					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TTACACGGATGCGGTCAATAA	0.572																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(400-402)Gcg>Acg		lipase, endothelial		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	86	73	78		400	5.1	0.1	18	dbSNP_134	78	0,8600		0,0,4300	no	missense	LIPG	NM_006033.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	134/501	47093932	1,13005	2203	4300	6503	SO:0001583	missense	9388				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	g.chr18:47093932G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.400G>A	18.37:g.47093932G>A	ENSP00000261292:p.Ala134Thr					LIPG_ENST00000577628.1_Missense_Mutation_p.A170T|LIPG_ENST00000580036.1_Missense_Mutation_p.A134T|LIPG_ENST00000427224.2_Missense_Mutation_p.A134T	p.A134T	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			3	678	+			134					B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.400G>A	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594341	0.86953	2.27E-4	0.0	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.94862	-3.54;-3.54	5.13	5.13	0.70059	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97623	0.9221	M	0.87827	2.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.98455	1.0593	10	0.87932	D	0	-22.4043	18.6133	0.91294	0.0:0.0:1.0:0.0	.	134;134;134	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	T	134	ENSP00000261292:A134T;ENSP00000387978:A134T	ENSP00000261292:A134T	A	+	1	0	LIPG	45347930	1.000000	0.71417	0.101000	0.21167	0.362000	0.29581	7.791000	0.85805	2.396000	0.81511	0.561000	0.74099	GCG		0.572	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		16	22	0	0	0	1	0	16	22					A	47093932	G	A	47093932	3	1	435	1	0	0	0	0	1	0	0	0	8823	1319	46	3	410	3	LIPG	18	47093932	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	309080	47093932	30983316	7800	28725											
LIPG	9388	broad.mit.edu	37	chr18	47107896	47107896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgcactgactccaatcGcttcaaaaaggggatctgtc	11	9	9	12	1	2	1	1	1	1	0	5	2	3	2	2	2	1	2	2	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:47107896G>A	ENST00000261292.4	+	6	1183	c.905G>A	c.(904-906)cGc>cAc	p.R302H	LIPG_ENST00000580036.1_Missense_Mutation_p.R302H|LIPG_ENST00000577628.1_Missense_Mutation_p.R338H|LIPG_ENST00000427224.2_Missense_Mutation_p.R228H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	302					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GACTCCAATCGCTTCAAAAAG	0.478																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(904-906)cGc>cAc		lipase, endothelial							108	108	108					18																	47107896		2203	4300	6503	SO:0001583	missense	9388				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	g.chr18:47107896G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.905G>A	18.37:g.47107896G>A	ENSP00000261292:p.Arg302His					LIPG_ENST00000577628.1_Missense_Mutation_p.R338H|LIPG_ENST00000580036.1_Missense_Mutation_p.R302H|LIPG_ENST00000427224.2_Missense_Mutation_p.R228H	p.R302H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			6	1183	+			302					B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.905G>A	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519427	0.96416	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.91068	-2.78;-2.78	5.79	5.79	0.91817	Lipase, N-terminal (1);	0.089862	0.85682	D	0.000000	D	0.93390	0.7892	L	0.38838	1.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.93520	0.6860	10	0.62326	D	0.03	-21.1183	20.0204	0.97499	0.0:0.0:1.0:0.0	.	228;302;302	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	H	302;228	ENSP00000261292:R302H;ENSP00000387978:R228H	ENSP00000261292:R302H	R	+	2	0	LIPG	45361894	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.904000	0.87408	2.740000	0.93945	0.561000	0.74099	CGC		0.478	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		32	58	0	0	0	1	0	32	58					A	47107896	G	A	47107896	3	1	435	1	0	0	0	0	1	0	0	0	8823	1087	38	1	927	1	LIPG	18	47107896	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13964	47107896	30969352	7801	28726											
MYO5B	4645	broad.mit.edu	37	chr18	47363955	47363955	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggttgttaagagtcactgcGttgatcatgtagaagagctg	11	12	13	5	1	2	4	2	1	0	3	2	4	2	4	0	1	2	5	0	1	3	4	rs199837997	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:47363955G>A	ENST00000285039.7	-	37	5369	c.5070C>T	c.(5068-5070)aaC>aaT	p.N1690N	MYO5B_ENST00000592688.1_Silent_p.N260N|MYO5B_ENST00000324581.6_Silent_p.N805N|SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Silent_p.N13N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1690	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGTCACTGCGTTGATCATGT	0.512													G|||	4	0.000798722	0	0.0058	5008	,	,		23021	0		0	False		,,,				2504	0					ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(5068-5070)aaC>aaT		myosin VB		G		1,4077		0,1,2038	68	65	66		5070	-3.4	0.4	18		66	0,8374		0,0,4187	no	coding-synonymous	MYO5B	NM_001080467.2		0,1,6225	AA,AG,GG		0.0,0.0245,0.0080		1690/1849	47363955	1,12451	2039	4187	6226	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47363955G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5070C>T	18.37:g.47363955G>A						MYO5B_ENST00000324581.6_Silent_p.N805N|SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Silent_p.N13N|MYO5B_ENST00000592688.1_Silent_p.N260N	p.N1690N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	37	5369	-			1690			Dilute.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.5070C>T	CCDS42436.1																																																																																				0.512	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			11	28	0	0	0	1	0	11	28					A	47363955	G	A	47363955	2	1	435	1	0	0	0	0	0	0	0	1	10079	1136	40	1		1	MYO5B	18	47363955	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	256059	47363955	30713293	7802	28727											
MYO5B	4645	broad.mit.edu	37	chr18	47404230	47404230	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctactttggtttgatgggTtccgcctatgacctggagtt	6	15	12	8	1	0	2	0	2	0	0	1	3	1	3	3	3	2	4	3	3	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:47404230T>C	ENST00000285039.7	-	25	3598	c.3299A>G	c.(3298-3300)aAc>aGc	p.N1100S	MYO5B_ENST00000324581.6_Missense_Mutation_p.N241S|MYO5B_ENST00000587895.1_5'Flank	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1100					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GTTTGATGGGTTCCGCCTATG	0.483																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(3298-3300)aAc>aGc		myosin VB							267	259	261					18																	47404230		1985	4157	6142	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47404230T>C	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3299A>G	18.37:g.47404230T>C	ENSP00000285039:p.Asn1100Ser					MYO5B_ENST00000324581.6_Missense_Mutation_p.N241S	p.N1100S	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	25	3598	-			1100					B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.3299A>G	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557173	0.65425	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.17691	2.26;2.26	5.9	5.9	0.94986	.	0.050076	0.85682	D	0.000000	T	0.15869	0.0382	L	0.41710	1.295	0.51767	D	0.999936	B;D	0.60160	0.024;0.987	B;P	0.45167	0.016;0.472	T	0.03193	-1.1062	10	0.02654	T	1	.	16.0051	0.80357	0.0:0.0:0.0:1.0	.	1100;241	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	S	1100;241	ENSP00000285039:N1100S;ENSP00000315531:N241S	ENSP00000285039:N1100S	N	-	2	0	MYO5B	45658228	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.770000	0.68873	2.264000	0.75181	0.533000	0.62120	AAC		0.483	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			44	78	0	0	0	1	0	44	78					C	47404230	T	C	47404230	3	2	435	1	0	0	0	0	1	0	0	0	10079	1725	60	4	2311	4	MYO5B	18	47404230	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	40275	47404230	30673018	7803	28728											
MYO5B	4645	broad.mit.edu	37	chr18	47431149	47431149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccctctgcatgcggtaatGtttctggagcaccacagccg	7	9	12	13	2	2	0	0	0	2	0	2	1	2	1	3	3	4	4	3	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:47431149G>A	ENST00000285039.7	-	20	2763	c.2464C>T	c.(2464-2466)Cat>Tat	p.H822Y	MYO5B_ENST00000324581.6_5'Flank	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	822	Arg-rich.|IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATGCGGTAATGTTTCTGGAGC	0.617																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(2464-2466)Cat>Tat		myosin VB							39	46	44					18																	47431149		1990	4152	6142	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47431149G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2464C>T	18.37:g.47431149G>A	ENSP00000285039:p.His822Tyr						p.H822Y	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	20	2763	-			822			Arg-rich.|IQ 3.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.2464C>T	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	0.079	-1.186559	0.01620	.	.	ENSG00000167306	ENST00000285039	T	0.70749	-0.51	5.37	3.58	0.41010	.	0.205916	0.42682	D	0.000662	T	0.34716	0.0907	N	0.01086	-1.025	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42899	-0.9424	10	0.02654	T	1	.	11.2041	0.48758	0.151:0.0:0.849:0.0	.	822	Q9ULV0	MYO5B_HUMAN	Y	822	ENSP00000285039:H822Y	ENSP00000285039:H822Y	H	-	1	0	MYO5B	45685147	1.000000	0.71417	0.995000	0.50966	0.024000	0.10985	3.002000	0.49496	1.268000	0.44264	-0.137000	0.14449	CAT		0.617	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			14	21	0	0	0	1	0	14	21					A	47431149	G	A	47431149	3	1	435	1	0	0	0	0	1	0	0	0	10079	1377	48	3	3166	3	MYO5B	18	47431149	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26919	47431149	30646099	7804	28729											
CCDC11	220136	broad.mit.edu	37	chr18	47753783	47753783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttactggggcatgccttgcGcatgggatgaatgttttgag	7	13	14	7	1	0	2	0	2	0	0	0	3	0	3	1	3	3	3	1	3	2	4	rs192619553	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:47753783G>A	ENST00000398545.4	-	8	1630	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CATGCCTTGCGCATGGGATGA	0.443																																						ENST00000398545.4																			0				endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20						c.(1513-1515)Cgc>Tgc		coiled-coil domain containing 11		G	CYS/ARG	8,4048		0,8,2020	170	175	173		1513	-1.5	0.2	18		173	0,8342		0,0,4171	yes	missense	CCDC11	NM_145020.3	180	0,8,6191	AA,AG,GG		0.0,0.1972,0.0645	probably-damaging	505/515	47753783	8,12390	2028	4171	6199	SO:0001583	missense	220136							g.chr18:47753783G>A																												ENST00000398545.4:c.1513C>T	18.37:g.47753783G>A	ENSP00000381553:p.Arg505Cys						p.R505C	NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	8	1630	-			505						Missense_Mutation	SNP	ENST00000398545.4	37	c.1513C>T	CCDS11940.2	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	2	0.0034965034965034965	0	0.0	G	14.27	2.484440	0.44147	0.001972	0.0	ENSG00000172361	ENST00000398545	T	0.52295	0.67	5.39	-1.51	0.08664	.	0.491847	0.20387	N	0.093325	T	0.47911	0.1471	L	0.29908	0.895	0.49130	D	0.999753	D	0.89917	1.0	P	0.61275	0.886	T	0.44651	-0.9314	10	0.87932	D	0	-13.5721	10.6764	0.45789	0.0:0.1197:0.2675:0.6127	.	505	Q96M91	CCD11_HUMAN	C	505	ENSP00000381553:R505C	ENSP00000381553:R505C	R	-	1	0	CCDC11	46007781	0.931000	0.31567	0.250000	0.24296	0.378000	0.30076	0.086000	0.14935	-0.545000	0.06224	-0.181000	0.13052	CGC		0.443	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			15	26	0	0	0	1	0	15	26					A	47753783	G	A	47753783	3	1	435	1	0	0	0	0	1	0	0	0	2746	1087	38	1	35	1	CCDC11	18	47753783	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	322634	47753783	30323465	7805	28730											
CXXC1	30827	broad.mit.edu	37	chr18	47812603	47812603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgacttcttgtgccgatagCgaatctctagcttggggtct	6	14	12	9	2	3	1	0	1	3	0	4	3	3	1	1	2	3	1	1	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:47812603C>T	ENST00000285106.6	-	4	962	c.248G>A	c.(247-249)cGc>cAc	p.R83H	CXXC1_ENST00000589940.1_Missense_Mutation_p.R83H|CXXC1_ENST00000412036.2_Missense_Mutation_p.R83H|CXXC1_ENST00000587396.1_5'UTR	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	83					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GTGCCGATAGCGAATCTCTAG	0.577																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(247-249)cGc>cAc		CXXC finger protein 1							122	128	126					18																	47812603		2203	4300	6503	SO:0001583	missense	30827				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	g.chr18:47812603C>T	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.248G>A	18.37:g.47812603C>T	ENSP00000285106:p.Arg83His					CXXC1_ENST00000587396.1_5'UTR|CXXC1_ENST00000589940.1_Missense_Mutation_p.R83H|CXXC1_ENST00000412036.2_Missense_Mutation_p.R83H	p.R83H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			4	962	-			83					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.248G>A	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351250	0.41700	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.63913	-0.07;-0.07	4.03	3.14	0.36123	Zinc finger, FYVE/PHD-type (1);	0.071047	0.56097	D	0.000029	T	0.52645	0.1747	N	0.14661	0.345	0.35154	D	0.770023	D;D;P;P	0.76494	0.999;0.968;0.883;0.703	P;B;B;B	0.57101	0.813;0.375;0.386;0.215	T	0.63024	-0.6729	10	0.62326	D	0.03	-13.3628	5.6605	0.17667	0.0:0.7686:0.0:0.2314	.	83;83;83;83	B4DGL1;B2RC03;Q9P0U4-2;Q9P0U4	.;.;.;CXXC1_HUMAN	H	83	ENSP00000285106:R83H;ENSP00000390475:R83H	ENSP00000285106:R83H	R	-	2	0	CXXC1	46066601	0.996000	0.38824	0.999000	0.59377	0.638000	0.38207	3.301000	0.51842	1.996000	0.58369	0.442000	0.29010	CGC		0.577	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		41	64	0	0	0	1	0	41	64					T	47812603	C	T	47812603	3	4	435	1	0	0	0	0	1	0	0	0	4097	768	27	1	1782	1	CXXC1	18	47812603	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	58820	47812603	30264645	7806	28731											
MRO	83876	broad.mit.edu	37	chr18	48335698	48335698	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaagatatcattgatgTccttttctgcttgggctggg	10	14	11	6	0	2	3	1	1	1	2	3	3	3	3	1	2	1	2	1	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:48335698T>C	ENST00000428869.2	-	4	331	c.73A>G	c.(73-75)Aca>Gca	p.T25A	MRO_ENST00000398439.3_Missense_Mutation_p.T25A|MRO_ENST00000256425.2_Missense_Mutation_p.T25A|MRO_ENST00000436348.2_Intron|MRO_ENST00000431965.2_Intron|MRO_ENST00000587291.1_Intron|MRO_ENST00000588444.1_Missense_Mutation_p.T25A			Q9BYG7	MSTRO_HUMAN	maestro	25						nucleolus (GO:0005730)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		ATCATTGATGTCCTTTTCTGC	0.413																																						ENST00000428869.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10						c.(73-75)Aca>Gca		maestro							98	88	91					18																	48335698		2203	4300	6503	SO:0001583	missense	83876					nucleolus	binding	g.chr18:48335698T>C	AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"maestro heat-like repeat containing"	24121	protein-coding gene	gene with protein product	"B29 protein", "beside the Ma29 deletion"	608080	"chromosome 18 open reading frame 3"	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.73A>G	18.37:g.48335698T>C	ENSP00000409509:p.Thr25Ala					MRO_ENST00000256425.2_Missense_Mutation_p.T25A|MRO_ENST00000436348.2_Intron|MRO_ENST00000587291.1_Intron|MRO_ENST00000398439.3_Missense_Mutation_p.T25A|MRO_ENST00000431965.2_Intron|MRO_ENST00000588444.1_Missense_Mutation_p.T25A	p.T25A			Q9BYG7	MSTRO_HUMAN		Colorectal(21;0.082)	4	331	-		Colorectal(6;0.0596)	25					B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Missense_Mutation	SNP	ENST00000428869.2	37	c.73A>G	CCDS11947.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460249	0.26248	.	.	ENSG00000134042	ENST00000428869;ENST00000398439;ENST00000256425	T;T;T	0.30448	1.53;1.53;1.53	5.48	5.48	0.80851	Armadillo-type fold (1);	0.787774	0.11455	N	0.562378	T	0.36826	0.0981	M	0.72479	2.2	0.29373	N	0.863888	P;P	0.41131	0.739;0.739	B;B	0.40782	0.34;0.291	T	0.29701	-1.0003	10	0.29301	T	0.29	.	11.9578	0.52991	0.0:0.0:0.0:1.0	.	25;25	E9PFU2;Q9BYG7	.;MSTRO_HUMAN	A	25	ENSP00000409509:T25A;ENSP00000381465:T25A;ENSP00000256425:T25A	ENSP00000256425:T25A	T	-	1	0	MRO	46589696	0.481000	0.25941	0.955000	0.39395	0.030000	0.12068	1.416000	0.34759	2.093000	0.63338	0.528000	0.53228	ACA		0.413	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449478.2	NM_031939		11	51	0	0	0	1	0	11	51					C	48335698	T	C	48335698	3	2	435	1	0	0	0	0	1	0	0	0	9772	1667	58	4	697	4	MRO	18	48335698	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	523095	48335698	29741550	7807	28732											
ME2	4200	broad.mit.edu	37	chr18	48439250	48439250	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagatgacattgagagtttaAtgccaattgtatatacaccg	15	12	8	6	1	0	3	0	2	0	2	0	4	0	3	2	0	2	2	2	0	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:48439250A>G	ENST00000321341.5	+	4	594	c.322A>G	c.(322-324)Atg>Gtg	p.M108V	ME2_ENST00000382927.3_Missense_Mutation_p.M108V	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	108					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		TGAGAGTTTAATGCCAATTGT	0.338																																						ENST00000321341.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(322-324)Atg>Gtg		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						137	137	137					18																	48439250		2203	4300	6503	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48439250A>G	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.322A>G	18.37:g.48439250A>G	ENSP00000321070:p.Met108Val					ME2_ENST00000382927.3_Missense_Mutation_p.M108V	p.M108V	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	4	594	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	108					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.322A>G	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.476389	0.63737	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.29917	1.55;1.55	5.58	3.13	0.36017	Malic enzyme, N-terminal (2);	0.072409	0.85682	D	0.000000	T	0.46249	0.1383	M	0.77103	2.36	0.58432	D	0.999997	B;P	0.48911	0.408;0.917	P;P	0.55303	0.773;0.766	T	0.41770	-0.9490	10	0.87932	D	0	-17.4149	8.4116	0.32646	0.7319:0.1373:0.0:0.1308	.	108;108	Q9BWL6;P23368	.;MAOM_HUMAN	V	108	ENSP00000321070:M108V;ENSP00000372384:M108V	ENSP00000321070:M108V	M	+	1	0	ME2	46693248	1.000000	0.71417	0.807000	0.32361	0.770000	0.43624	5.211000	0.65219	0.447000	0.26695	0.533000	0.62120	ATG		0.338	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		37	64	0	0	0	1	0	37	64					G	48439250	A	G	48439250	3	3	435	1	0	0	0	0	1	0	0	0	9418	101	4	4	332	4	ME2	18	48439250	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	103552	48439250	29637998	7808	28733											
ELAC1	55520	broad.mit.edu	37	chr18	48513361	48513361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagaaacagatggcattgCagaactaaaaaagcaagctg	19	5	11	6	0	0	3	0	0	0	3	0	4	0	3	0	2	5	4	0	2	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:48513361C>T	ENST00000269466.3	+	4	1105	c.998C>T	c.(997-999)gCa>gTa	p.A333V	RP11-729L2.2_ENST00000588256.1_Intron|RP11-729L2.2_ENST00000590722.2_Intron|SMAD4_ENST00000452201.2_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	333					tRNA 3'-trailer cleavage (GO:0042779)	cytosol (GO:0005829)|nucleus (GO:0005634)	endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		GATGGCATTGCAGAACTAAAA	0.428																																						ENST00000269466.3																			0				kidney(1)|large_intestine(4)|prostate(1)	6						c.(997-999)gCa>gTa		elaC ribonuclease Z 1							94	82	86					18																	48513361		2203	4300	6503	SO:0001583	missense	55520				tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr18:48513361C>T	AB029151	CCDS11949.1	18q21	2013-05-24	2013-05-24		ENSG00000141642	ENSG00000141642	3.1.26.11		14197	protein-coding gene	gene with protein product	"tRNA Z (short form)", "RNaseZ(S)"	608079	"elaC (E. coli) homolog 1", "elaC homolog 1 (E. coli)"			12711671, 21559454	Standard	NM_018696		Approved	D29	uc002lez.3	Q9H777	OTTHUMG00000132695	ENST00000269466.3:c.998C>T	18.37:g.48513361C>T	ENSP00000269466:p.Ala333Val					RP11-729L2.2_ENST00000588256.1_Intron|RP11-729L2.2_ENST00000590722.2_Intron|SMAD4_ENST00000452201.2_Intron	p.A333V	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)	4	1105	+		Colorectal(6;0.0269)|all_epithelial(6;0.0729)	333					Q9NS99	Missense_Mutation	SNP	ENST00000269466.3	37	c.998C>T	CCDS11949.1	.	.	.	.	.	.	.	.	.	.	C	8.320	0.824172	0.16678	.	.	ENSG00000141642	ENST00000269466	T	0.47869	0.83	5.63	-1.42	0.08913	.	0.939981	0.09084	N	0.850914	T	0.21590	0.0520	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.17137	-1.0379	10	0.28530	T	0.3	.	3.2653	0.06863	0.1143:0.2045:0.1244:0.5568	.	333	Q9H777	RNZ1_HUMAN	V	333	ENSP00000269466:A333V	ENSP00000269466:A333V	A	+	2	0	ELAC1	46767359	0.000000	0.05858	0.160000	0.22671	0.991000	0.79684	0.156000	0.16382	-0.026000	0.13895	-0.150000	0.13652	GCA		0.428	ELAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255992.2			19	26	0	0	0	1	0	19	26					T	48513361	C	T	48513361	3	4	435	1	0	0	0	0	1	0	0	0	5046	710	25	3	1008	3	ELAC1	18	48513361	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	74111	48513361	29563887	7809	28734											
SMAD4	4089	broad.mit.edu	37	chr18	48591850	48591850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttcaggtaggagagaCatttaaggttccttcaagct	11	12	12	6	0	2	1	2	0	0	1	3	4	3	3	1	4	1	4	1	4	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:48591850C>T	ENST00000342988.3	+	9	1551	c.1013C>T	c.(1012-1014)aCa>aTa	p.T338I	SMAD4_ENST00000588745.1_Missense_Mutation_p.T242I|SMAD4_ENST00000398417.2_Missense_Mutation_p.T338I	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	338	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|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)		GTAGGAGAGACATTTAAGGTT	0.433																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1012-1014)aCa>aTa		SMAD family member 4							273	234	247					18																	48591850		2203	4300	6503	SO:0001583	missense	4089				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	g.chr18:48591850C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1013C>T	18.37:g.48591850C>T	ENSP00000341551:p.Thr338Ile					SMAD4_ENST00000588745.1_Missense_Mutation_p.T242I|SMAD4_ENST00000398417.2_Missense_Mutation_p.T338I	p.T338I	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1551	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	338			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1013C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705303	0.89018	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.97232	-4.3;-4.3	5.99	5.99	0.97316	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.95809	0.8636	L	0.50847	1.595	0.80722	D	1	P	0.45902	0.868	B	0.42771	0.397	D	0.94766	0.7940	10	0.33141	T	0.24	.	19.2492	0.93917	0.0:1.0:0.0:0.0	.	338	Q13485	SMAD4_HUMAN	I	338	ENSP00000341551:T338I;ENSP00000381452:T338I	ENSP00000341551:T338I	T	+	2	0	SMAD4	46845848	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.672000	0.83956	2.840000	0.97914	0.655000	0.94253	ACA		0.433	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		17	79	0	0	0	1	0	17	79					T	48591850	C	T	48591850	3	4	435	1	0	0	0	0	1	0	0	0	14760	478	17	3	1043	3	SMAD4	18	48591850	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	78489	48591850	29485398	7810	28735											
SMAD4	4089	broad.mit.edu	37	chr18	48603092	48603092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcccaggcagcagccGtggcaggaaacatccctggc	9	4	13	15	1	0	0	0	0	0	0	1	1	1	1	3	4	5	4	3	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:48603092G>A	ENST00000342988.3	+	11	1931	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	SMAD4_ENST00000588745.1_Missense_Mutation_p.V369M|SMAD4_ENST00000398417.2_Missense_Mutation_p.V465M	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	465	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.|Poly-Ala.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|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)		GGCAGCAGCCGTGGCAGGAAA	0.463																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1393-1395)Gtg>Atg		SMAD family member 4							43	44	44					18																	48603092		2203	4300	6503	SO:0001583	missense	4089				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	g.chr18:48603092G>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1393G>A	18.37:g.48603092G>A	ENSP00000341551:p.Val465Met					SMAD4_ENST00000588745.1_Missense_Mutation_p.V369M|SMAD4_ENST00000398417.2_Missense_Mutation_p.V465M	p.V465M	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	11	1931	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	465			MH2.|Poly-Ala.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1393G>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222639	0.95139	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.97430	-4.38;-4.38	6.03	6.03	0.97812	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.97876	0.9302	M	0.85099	2.735	0.80722	D	1	D	0.60160	0.987	P	0.50754	0.649	D	0.98300	1.0518	10	0.72032	D	0.01	.	19.3283	0.94273	0.0:0.0:1.0:0.0	.	465	Q13485	SMAD4_HUMAN	M	465	ENSP00000341551:V465M;ENSP00000381452:V465M	ENSP00000341551:V465M	V	+	1	0	SMAD4	46857090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.668000	0.98619	2.861000	0.98227	0.655000	0.94253	GTG		0.463	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		13	12	0	0	0	1	0	13	12					A	48603092	G	A	48603092	3	1	435	1	0	0	0	0	1	0	0	0	14760	1145	40	1	1431	1	SMAD4	18	48603092	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11242	48603092	29474156	7811	28736											
DCC	1630	broad.mit.edu	37	chr18	50832039	50832039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacagaaagacgacccgcaGgggtgagatggaaacactgg	15	3	14	9	2	0	3	0	1	0	3	0	6	0	4	1	4	1	1	1	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:50832039G>A	ENST00000442544.2	+	13	2619	c.2003G>A	c.(2002-2004)aGg>aAg	p.R668K	DCC_ENST00000581580.1_Missense_Mutation_p.R323K|DCC_ENST00000412726.1_Missense_Mutation_p.R516K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	668	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			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)		ACGACCCGCAGGGGTGAGATG	0.433																																						ENST00000442544.2																			0				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						c.(2002-2004)aGg>aAg		deleted in colorectal carcinoma							88	95	93					18																	50832039		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50832039G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2003G>A	18.37:g.50832039G>A	ENSP00000389140:p.Arg668Lys					DCC_ENST00000412726.1_Missense_Mutation_p.R516K|DCC_ENST00000581580.1_Missense_Mutation_p.R323K	p.R668K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	13	2619	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	668			Fibronectin type-III 3.			Missense_Mutation	SNP	ENST00000442544.2	37	c.2003G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553358	0.65425	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T;T	0.55930	0.49;0.64;0.49	5.58	5.58	0.84498	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	N	0.20445	0.575	0.47819	D	0.999525	B;B;B	0.17465	0.002;0.001;0.022	B;B;B	0.35413	0.046;0.046;0.202	T	0.24048	-1.0171	10	0.02654	T	1	.	18.7178	0.91682	0.0:0.0:1.0:0.0	.	516;516;668	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	K	668;601;516	ENSP00000389140:R668K;ENSP00000304146:R601K;ENSP00000397322:R516K	ENSP00000304146:R601K	R	+	2	0	DCC	49086037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.446000	0.80609	2.774000	0.95407	0.655000	0.94253	AGG		0.433	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		19	76	0	0	0	1	0	19	76					A	50832039	G	A	50832039	3	1	435	1	0	0	0	0	1	0	0	0	4282	1000	35	3	2053	3	DCC	18	50832039	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2228947	50832039	27245209	7812	28737											
TCF4	6925	broad.mit.edu	37	chr18	52899844	52899844	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcatcaccctcgtcatcGgatttgatctcagagctgcc	7	13	7	14	2	4	2	4	1	2	1	8	3	4	3	2	1	2	1	2	1	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:52899844G>A	ENST00000356073.4	-	17	2156	c.1545C>T	c.(1543-1545)tcC>tcT	p.S515S	TCF4_ENST00000570287.2_Silent_p.S355S|TCF4_ENST00000570177.2_Silent_p.S385S|TCF4_ENST00000566279.1_Silent_p.S455S|TCF4_ENST00000566286.1_Silent_p.S512S|TCF4_ENST00000564403.2_Silent_p.S521S|TCF4_ENST00000398339.1_Silent_p.S617S|TCF4_ENST00000561992.1_Silent_p.S385S|TCF4_ENST00000543082.1_Silent_p.S473S|TCF4_ENST00000567880.1_Silent_p.S455S|TCF4_ENST00000537578.1_Silent_p.S491S|TCF4_ENST00000354452.3_Silent_p.S515S|TCF4_ENST00000568673.1_Silent_p.S491S|TCF4_ENST00000564228.1_Silent_p.S444S|TCF4_ENST00000564999.1_Silent_p.S515S|TCF4_ENST00000457482.3_Silent_p.S355S|TCF4_ENST00000544241.2_Silent_p.S444S|TCF4_ENST00000561831.3_Silent_p.S355S|TCF4_ENST00000537856.3_Silent_p.S385S|TCF4_ENST00000565018.2_Silent_p.S515S|TCF4_ENST00000568740.1_Silent_p.S490S|TCF4_ENST00000540999.1_Silent_p.S491S	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	515					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			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)		CCTCGTCATCGGATTTGATCT	0.463																																						ENST00000354452.3																			0				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						c.(1543-1545)tcC>tcT		transcription factor 4							117	102	107					18																	52899844		2203	4300	6503	SO:0001819	synonymous_variant	6925				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	g.chr18:52899844G>A	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1545C>T	18.37:g.52899844G>A						TCF4_ENST00000561831.3_Silent_p.S355S|TCF4_ENST00000537578.1_Silent_p.S491S|TCF4_ENST00000561992.1_Silent_p.S385S|TCF4_ENST00000568740.1_Silent_p.S490S|TCF4_ENST00000570287.2_Silent_p.S355S|TCF4_ENST00000537856.3_Silent_p.S385S|TCF4_ENST00000568673.1_Silent_p.S491S|TCF4_ENST00000567880.1_Silent_p.S455S|TCF4_ENST00000565018.2_Silent_p.S515S|TCF4_ENST00000566279.1_Silent_p.S455S|TCF4_ENST00000564228.1_Silent_p.S444S|TCF4_ENST00000564999.1_Silent_p.S515S|TCF4_ENST00000544241.2_Silent_p.S444S|TCF4_ENST00000543082.1_Silent_p.S473S|TCF4_ENST00000540999.1_Silent_p.S491S|TCF4_ENST00000398339.1_Silent_p.S617S|TCF4_ENST00000570177.2_Silent_p.S385S|TCF4_ENST00000566286.1_Silent_p.S512S|TCF4_ENST00000356073.4_Silent_p.S515S|TCF4_ENST00000457482.3_Silent_p.S355S|TCF4_ENST00000564403.2_Silent_p.S521S	p.S515S	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	17	2156	-			515					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Silent	SNP	ENST00000356073.4	37	c.1545C>T	CCDS11960.1																																																																																				0.463	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		20	35	0	0	0	1	0	20	35					A	52899844	G	A	52899844	2	1	435	1	0	0	0	0	0	0	0	1	15692	1103	39	2		2	TCF4	18	52899844	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2067805	52899844	25177404	7813	28738											
WDR7	23335	broad.mit.edu	37	chr18	54398626	54398626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcgcaggtgcattggatcGttgtgtgatggggataacag	8	12	15	6	2	1	1	0	1	1	0	3	3	1	3	0	4	2	3	0	4	1	3	rs147676543		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:54398626G>A	ENST00000254442.3	+	14	1998	c.1787G>A	c.(1786-1788)cGt>cAt	p.R596H	WDR7_ENST00000357574.3_Missense_Mutation_p.R596H|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	596					hematopoietic progenitor cell differentiation (GO:0002244)					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)		GCATTGGATCGTTGTGTGATG	0.343																																						ENST00000254442.3																			0				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						c.(1786-1788)cGt>cAt		WD repeat domain 7		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	99	87	91		1787,1787	5.3	1	18	dbSNP_134	91	0,8600		0,0,4300	no	missense,missense	WDR7	NM_015285.2,NM_052834.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	596/1491,596/1458	54398626	1,13005	2203	4300	6503	SO:0001583	missense	23335							g.chr18:54398626G>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1787G>A	18.37:g.54398626G>A	ENSP00000254442:p.Arg596His					WDR7_ENST00000357574.3_Missense_Mutation_p.R596H|WDR7_ENST00000589935.1_Intron	p.R596H	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	14	1998	+			596					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.1787G>A	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318584	0.81469	2.27E-4	0.0	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.72051	-0.62;-0.62	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.052773	0.85682	D	0.000000	T	0.77579	0.4151	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.987	T	0.77935	-0.2401	10	0.45353	T	0.12	.	18.5514	0.91066	0.0:0.0:1.0:0.0	.	596;596	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	H	596	ENSP00000254442:R596H;ENSP00000350187:R596H	ENSP00000254442:R596H	R	+	2	0	WDR7	52549624	1.000000	0.71417	0.977000	0.42913	0.489000	0.33432	9.788000	0.99064	2.479000	0.83701	0.563000	0.77884	CGT		0.343	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			11	32	0	0	0	1	0	11	32					A	54398626	G	A	54398626	3	1	435	1	0	0	0	0	1	0	0	0	17317	1145	40	1	1837	1	WDR7	18	54398626	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1498782	54398626	23678622	7814	28739											
ST8SIA3	51046	broad.mit.edu	37	chr18	55020209	55020209	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttcaccactcccaagtaCgccagcccgggggcgccccg	7	5	10	19	4	2	0	1	0	1	0	3	0	3	0	6	2	2	1	6	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:55020209C>T	ENST00000324000.3	+	1	2166	c.132C>T	c.(130-132)taC>taT	p.Y44Y		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	44					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CTCCCAAGTACGCCAGCCCGG	0.582																																						ENST00000324000.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36						c.(130-132)taC>taT		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3							69	70	69					18																	55020209		2203	4300	6503	SO:0001819	synonymous_variant	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55020209C>T	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"Sialyltransferases"	14269	protein-coding gene	gene with protein product	"ST8Sia III"	609478	"sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.132C>T	18.37:g.55020209C>T							p.Y44Y	NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	1	2166	+			44					A8K0F2|Q6B085|Q9NS41	Silent	SNP	ENST00000324000.3	37	c.132C>T	CCDS32834.1																																																																																				0.582	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		21	23	0	0	0	1	0	21	23					T	55020209	C	T	55020209	2	4	435	1	0	0	0	0	0	0	0	1	15232	547	19	1		1	ST8SIA3	18	55020209	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	621583	55020209	23057039	7815	28740											
ATP8B1	5205	broad.mit.edu	37	chr18	55329795	55329795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaggaggtgcaaactttgCgtagacgccacctctattcc	10	9	9	13	2	1	1	0	0	1	1	2	2	2	2	3	2	3	2	3	2	3	4	rs536502512		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:55329795C>T	ENST00000283684.4	-	20	2337	c.2338G>A	c.(2338-2340)Gca>Aca	p.A780T	ATP8B1_ENST00000536015.1_Missense_Mutation_p.A780T|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	780					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			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)				GCAAACTTTGCGTAGACGCCA	0.438													C|||	1	0.000199681	0	0	5008	,	,		16531	0		0	False		,,,				2504	0.001					ENST00000536015.1																			0				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						c.(2338-2340)Gca>Aca		ATPase, aminophospholipid transporter, class I, type 8B, member 1							95	90	92					18																	55329795		2203	4300	6503	SO:0001583	missense	5205				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	g.chr18:55329795C>T	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2338G>A	18.37:g.55329795C>T	ENSP00000283684:p.Ala780Thr					RP11-35G9.3_ENST00000591854.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.A780T|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA	p.A780T	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			21	2457	-		Colorectal(73;0.229)	780					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.2338G>A	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	4.792	0.147256	0.09134	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.30448	1.53;1.53	5.57	4.69	0.59074	HAD-like domain (2);	0.551444	0.19299	N	0.117696	T	0.13586	0.0329	N	0.04636	-0.2	0.36201	D	0.850758	B	0.09022	0.002	B	0.08055	0.003	T	0.15954	-1.0419	10	0.14252	T	0.57	.	10.0962	0.42478	0.1389:0.7882:0.0:0.0729	.	780	O43520	AT8B1_HUMAN	T	780	ENSP00000283684:A780T;ENSP00000445359:A780T	ENSP00000283684:A780T	A	-	1	0	ATP8B1	53480793	0.717000	0.27966	0.996000	0.52242	0.093000	0.18481	0.334000	0.19787	1.332000	0.45431	0.313000	0.20887	GCA		0.438	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		7	72	0	0	0	1	0	7	72					T	55329795	C	T	55329795	3	4	435	1	0	0	0	0	1	0	0	0	1194	768	27	1	1449	1	ATP8B1	18	55329795	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	309586	55329795	22747453	7816	28741											
ALPK2	115701	broad.mit.edu	37	chr18	56247545	56247545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctgacctgggagtgcccgGggagatgctttcttcttcct	5	12	13	11	1	2	2	0	1	2	1	3	4	3	3	3	3	3	2	3	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:56247545G>A	ENST00000361673.3	-	4	676	c.463C>T	c.(463-465)Ccg>Tcg	p.P155S	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	155						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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						GGAGTGCCCGGGGAGATGCTT	0.488																																						ENST00000361673.3																			0				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						c.(463-465)Ccg>Tcg		alpha-kinase 2							220	223	222					18																	56247545		2149	4255	6404	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56247545G>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.463C>T	18.37:g.56247545G>A	ENSP00000354991:p.Pro155Ser						p.P155S	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	676	-			155					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.463C>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	3.620	-0.077679	0.07184	.	.	ENSG00000198796	ENST00000361673	T	0.39787	1.06	5.69	-6.8	0.01709	.	.	.	.	.	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.32161	-0.9917	9	0.02654	T	1	0.6566	3.8798	0.09072	0.278:0.3486:0.2911:0.0823	.	155	Q86TB3	ALPK2_HUMAN	S	155	ENSP00000354991:P155S	ENSP00000354991:P155S	P	-	1	0	ALPK2	54398525	0.000000	0.05858	0.000000	0.03702	0.460000	0.32559	-1.462000	0.02364	-1.012000	0.03387	0.467000	0.42956	CCG		0.488	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		44	63	0	0	0	1	0	44	63					A	56247545	G	A	56247545	3	1	435	1	0	0	0	0	1	0	0	0	545	1232	43	3	6089	3	ALPK2	18	56247545	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	917750	56247545	21829703	7817	28742											
ALPK2	115701	broad.mit.edu	37	chr18	56274580	56274580	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgtaacacatgaatataCtgattctcaaagaattcata	18	12	5	6	0	2	4	2	2	1	2	3	4	2	4	0	0	2	1	0	0	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:56274580C>A	ENST00000361673.3	-	3	414	c.201G>T	c.(199-201)caG>caT	p.Q67H		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	67	Ig-like 1.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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						CATGAATATACTGATTCTCAA	0.398																																						ENST00000361673.3																			0				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						c.(199-201)caG>caT		alpha-kinase 2							111	107	108					18																	56274580		1906	4126	6032	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56274580C>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.201G>T	18.37:g.56274580C>A	ENSP00000354991:p.Gln67His						p.Q67H	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			3	414	-			67			Ig-like 1.		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.201G>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817493	0.32145	.	.	ENSG00000198796	ENST00000361673	T	0.29142	1.58	5.9	0.0586	0.14328	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.18087	0.0434	L	0.35644	1.08	0.25354	N	0.988842	B	0.31790	0.34	B	0.33196	0.159	T	0.27297	-1.0078	9	0.15066	T	0.55	-5.9887	2.2435	0.04025	0.1196:0.4497:0.1167:0.314	.	67	Q86TB3	ALPK2_HUMAN	H	67	ENSP00000354991:Q67H	ENSP00000354991:Q67H	Q	-	3	2	ALPK2	54425560	0.935000	0.31712	0.749000	0.31150	0.215000	0.24574	-0.269000	0.08596	-0.283000	0.09115	-0.189000	0.12847	CAG		0.398	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		39	59	1	0	2.40579e-17	1	2.64746e-17	39	59					A	56274580	C	A	56274580	3	1	435	1	0	0	0	0	1	0	0	0	545	564	20	5	6355	5	ALPK2	18	56274580	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27035	56274580	21802668	7818	28743											
ZNF532	55205	broad.mit.edu	37	chr18	56648724	56648724	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgcccagactccagacgtAcctttaccaaacgtttgatg	11	10	7	13	2	0	3	0	1	0	2	1	3	1	3	4	0	4	2	4	0	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:56648724A>G	ENST00000336078.4	+	10	4062	c.3286A>G	c.(3286-3288)Acc>Gcc	p.T1096A	ZNF532_ENST00000589288.1_Missense_Mutation_p.T1096A|ZNF532_ENST00000591083.1_Missense_Mutation_p.T1096A|ZNF532_ENST00000591230.1_Missense_Mutation_p.T1096A|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591808.1_Missense_Mutation_p.T1096A	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1096					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTCCAGACGTACCTTTACCAA	0.517																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(3286-3288)Acc>Gcc		zinc finger protein 532							162	153	156					18																	56648724		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56648724A>G	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.3286A>G	18.37:g.56648724A>G	ENSP00000338217:p.Thr1096Ala					ZNF532_ENST00000591808.1_Missense_Mutation_p.T1096A|ZNF532_ENST00000591083.1_Missense_Mutation_p.T1096A|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000589288.1_Missense_Mutation_p.T1096A|ZNF532_ENST00000591230.1_Missense_Mutation_p.T1096A	p.T1096A	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			10	4062	+			1096					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.3286A>G	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.704103	0.48412	.	.	ENSG00000074657	ENST00000336078	T	0.01665	4.7	5.26	5.26	0.73747	Zinc finger, C2H2-like (1);	0.234704	0.43260	D	0.000586	T	0.00998	0.0033	N	0.12746	0.255	0.29574	N	0.849643	B;P	0.35745	0.028;0.518	B;B	0.30316	0.017;0.114	T	0.31503	-0.9941	10	0.05959	T	0.93	-6.0495	9.4036	0.38449	0.9196:0.0:0.0804:0.0	.	1096;1096	B3KXW2;Q9HCE3	.;ZN532_HUMAN	A	1096	ENSP00000338217:T1096A	ENSP00000338217:T1096A	T	+	1	0	ZNF532	54799704	0.995000	0.38212	0.929000	0.37066	0.088000	0.18126	4.016000	0.57159	1.992000	0.58205	0.533000	0.62120	ACC		0.517	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		8	120	0	0	0	1	0	8	120					G	56648724	A	G	56648724	3	3	435	1	0	0	0	0	1	0	0	0	17969	391	14	4	3312	4	ZNF532	18	56648724	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	374144	56648724	21428524	7819	28744											
CCBE1	147372	broad.mit.edu	37	chr18	57105347	57105347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagtgctacttactggaGaccctctgggcccaggcgct	8	8	12	13	1	1	2	0	0	1	2	1	3	1	2	2	3	3	2	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:57105347G>T	ENST00000439986.4	-	10	1020	c.983C>A	c.(982-984)tCt>tAt	p.S328Y	CCBE1_ENST00000398179.2_Missense_Mutation_p.S57Y	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	328	Collagen-like 2.				lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				ACTTACTGGAGACCCTCTGGG	0.517																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	ENST00000439986.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24						c.(982-984)tCt>tAt		collagen and calcium binding EGF domains 1							53	47	49					18																	57105347		2203	4300	6503	SO:0001583	missense	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57105347G>T	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.983C>A	18.37:g.57105347G>T	ENSP00000404464:p.Ser328Tyr					CCBE1_ENST00000398179.2_Missense_Mutation_p.S57Y	p.S328Y	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN			10	1020	-		Colorectal(73;0.175)	328			Collagen-like 2.		Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	c.983C>A	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108800	0.77096	.	.	ENSG00000183287	ENST00000439986;ENST00000398179	T;D	0.83992	-0.42;-1.79	5.58	5.58	0.84498	.	0.329868	0.36268	N	0.002683	D	0.89230	0.6656	M	0.64170	1.965	0.36248	D	0.853722	D;D;D	0.67145	0.995;0.996;0.986	P;P;P	0.62014	0.885;0.897;0.814	D	0.91892	0.5524	10	0.66056	D	0.02	-24.4197	18.3555	0.90356	0.0:0.0:1.0:0.0	.	57;328;137	Q6UXH8-2;Q6UXH8;Q6UXH8-3	.;CCBE1_HUMAN;.	Y	328;57	ENSP00000404464:S328Y;ENSP00000381241:S57Y	ENSP00000381241:S57Y	S	-	2	0	CCBE1	55256327	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.948000	0.63590	2.604000	0.88044	0.655000	0.94253	TCT		0.517	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		7	16	1	0	0.000274275	1	0.000279654	7	16					T	57105347	G	T	57105347	3	4	435	1	0	0	0	0	1	0	0	0	2731	942	33	5	245	5	CCBE1	18	57105347	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	456623	57105347	20971901	7820	28745											
CDH20	28316	broad.mit.edu	37	chr18	59212279	59212279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgatccagacagtgagtgCggtggaccaagatgacccac	11	6	13	11	1	0	5	0	3	0	2	1	6	1	6	3	2	1	1	3	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:59212279C>T	ENST00000262717.4	+	10	1948	c.1550C>T	c.(1549-1551)gCg>gTg	p.A517V	CDH20_ENST00000538374.1_Missense_Mutation_p.A517V|CDH20_ENST00000536675.2_Missense_Mutation_p.A517V			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	517	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACAGTGAGTGCGGTGGACCAA	0.517																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(1549-1551)gCg>gTg		cadherin 20, type 2							142	114	123					18																	59212279		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59212279C>T	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1550C>T	18.37:g.59212279C>T	ENSP00000262717:p.Ala517Val					CDH20_ENST00000538374.1_Missense_Mutation_p.A517V|CDH20_ENST00000536675.2_Missense_Mutation_p.A517V	p.A517V			Q9HBT6	CAD20_HUMAN			10	1948	+		Colorectal(73;0.186)	517			Cadherin 5.		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.1550C>T	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	32	5.180578	0.94846	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.59364	0.27;0.27;0.27	6.01	6.01	0.97437	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.75466	0.3853	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71560	-0.4556	10	0.41790	T	0.15	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	517	Q9HBT6	CAD20_HUMAN	V	517	ENSP00000444767:A517V;ENSP00000442226:A517V;ENSP00000262717:A517V	ENSP00000262717:A517V	A	+	2	0	CDH20	57363259	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.051000	0.71072	2.861000	0.98227	0.650000	0.86243	GCG		0.517	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		27	25	0	0	0	1	0	27	25					T	59212279	C	T	59212279	3	4	435	1	0	0	0	0	1	0	0	0	3106	768	27	1	1584	1	CDH20	18	59212279	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2106932	59212279	18864969	7821	28746											
KIAA1468	57614	broad.mit.edu	37	chr18	59898499	59898499	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagatagtcgtttaggataCgaggtaaattataccaccta	14	11	9	7	2	0	1	0	0	0	1	1	3	0	2	2	2	2	3	2	2	8	8	rs147870131		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:59898499C>T	ENST00000398130.2	+	9	1753	c.1521C>T	c.(1519-1521)taC>taT	p.Y507Y	KIAA1468_ENST00000592479.1_3'UTR|KIAA1468_ENST00000256858.6_Silent_p.Y507Y	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	507										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)				GTTTAGGATACGAGGTAAATT	0.338													c|||	1	0.000199681	0	0	5008	,	,		17029	0		0	False		,,,				2504	0.001					ENST00000256858.6																			0				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						c.(1519-1521)taC>taT		KIAA1468		T		0,4404		0,0,2202	117	109	111		1521	-0.1	1	18	dbSNP_134	111	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KIAA1468	NM_020854.3		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		507/1217	59898499	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	57614						binding	g.chr18:59898499C>T	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1521C>T	18.37:g.59898499C>T						KIAA1468_ENST00000592479.1_3'UTR|KIAA1468_ENST00000398130.2_Silent_p.Y507Y	p.Y507Y			Q9P260	K1468_HUMAN			9	1769	+		Colorectal(73;0.186)	507						Silent	SNP	ENST00000398130.2	37	c.1521C>T	CCDS11979.2																																																																																				0.338	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		6	64	0	0	0	1	0	6	64					T	59898499	C	T	59898499	2	4	435	1	0	0	0	0	0	0	0	1	8236	547	19	1		1	KIAA1468	18	59898499	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	686220	59898499	18178749	7822	28747											
KIAA1468	57614	broad.mit.edu	37	chr18	59949646	59949646	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaacatttggtagagttggCcctaacgcagaacccaggtt	13	9	10	9	1	0	2	0	0	0	2	0	2	0	2	2	3	3	4	2	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:59949646C>T	ENST00000398130.2	+	25	3454	c.3222C>T	c.(3220-3222)ggC>ggT	p.G1074G	KIAA1468_ENST00000256858.6_Silent_p.G1108G	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1074										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)				GTAGAGTTGGCCCTAACGCAG	0.408																																						ENST00000256858.6																			0				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						c.(3322-3324)ggC>ggT		KIAA1468							168	162	164					18																	59949646		2203	4300	6503	SO:0001819	synonymous_variant	57614						binding	g.chr18:59949646C>T	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3222C>T	18.37:g.59949646C>T						KIAA1468_ENST00000398130.2_Silent_p.G1074G	p.G1108G			Q9P260	K1468_HUMAN			26	3572	+		Colorectal(73;0.186)	1074						Silent	SNP	ENST00000398130.2	37	c.3324C>T	CCDS11979.2																																																																																				0.408	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		5	109	0	0	0	1	0	5	109					T	59949646	C	T	59949646	2	4	435	1	0	0	0	0	0	0	0	1	8236	726	26	3		3	KIAA1468	18	59949646	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	51147	59949646	18127602	7823	28748											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60021739	60021739	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccgccgcaacaccgagtgCgcgccgggcctgggcgccca	5	3	15	18	7	0	0	0	0	0	0	0	1	0	0	6	2	3	1	6	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:60021739C>T	ENST00000586569.1	+	4	437	c.399C>T	c.(397-399)tgC>tgT	p.C133C	TNFRSF11A_ENST00000269485.7_Silent_p.C133C	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	133					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			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)				ACACCGAGTGCGCGCCGGGCC	0.677																																						ENST00000586569.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(397-399)tgC>tgT		tumor necrosis factor receptor superfamily, member 11a, NFKB activator							25	30	28					18																	60021739		2125	4185	6310	SO:0001819	synonymous_variant	8792				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	g.chr18:60021739C>T	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.399C>T	18.37:g.60021739C>T						TNFRSF11A_ENST00000269485.7_Silent_p.C133C	p.C133C	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN			4	437	+		Colorectal(73;0.188)	133					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	ENST00000586569.1	37	c.399C>T	CCDS11980.1																																																																																				0.677	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			18	22	0	0	0	1	0	18	22					T	60021739	C	T	60021739	2	4	435	1	0	0	0	0	0	0	0	1	16281	776	27	1		1	TNFRSF11A	18	60021739	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	72093	60021739	18055509	7824	28749											
ZCCHC2	54877	broad.mit.edu	37	chr18	60241838	60241838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccggaagcctgagcatcGcatcaccaaacactgccttt	11	7	7	16	2	1	1	1	1	0	0	2	2	1	2	4	1	4	2	4	1	2	1	rs373529654		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:60241838G>A	ENST00000269499.5	+	13	2942	c.2524G>A	c.(2524-2526)Gca>Aca	p.A842T	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.A521T	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	842						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CCTGAGCATCGCATCACCAAA	0.507																																						ENST00000269499.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(2524-2526)Gca>Aca		zinc finger, CCHC domain containing 2							140	141	141					18																	60241838		2068	4206	6274	SO:0001583	missense	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60241838G>A	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"Zinc fingers, CCHC domain containing"	22916	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 49"	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2524G>A	18.37:g.60241838G>A	ENSP00000269499:p.Ala842Thr					ZCCHC2_ENST00000586834.1_Missense_Mutation_p.A521T	p.A842T	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN			13	2942	+			842					B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	c.2524G>A	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106026	0.56291	.	.	ENSG00000141664	ENST00000269499	T	0.26373	1.74	5.41	5.41	0.78517	.	0.187364	0.37623	N	0.002001	T	0.15392	0.0371	N	0.08118	0	0.28805	N	0.898568	B	0.29766	0.256	B	0.23150	0.044	T	0.12993	-1.0526	10	0.56958	D	0.05	-7.1619	17.3993	0.87455	0.0:0.0:1.0:0.0	.	842	Q9C0B9	ZCHC2_HUMAN	T	842	ENSP00000269499:A842T	ENSP00000269499:A842T	A	+	1	0	ZCCHC2	58392818	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.969000	0.63735	2.534000	0.85438	0.655000	0.94253	GCA		0.507	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		47	20	0	0	0	1	0	47	20					A	60241838	G	A	60241838	3	1	435	1	0	0	0	0	1	0	0	0	17584	1087	38	1	2574	1	ZCCHC2	18	60241838	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	220099	60241838	17835410	7825	28750											
ZCCHC2	54877	broad.mit.edu	37	chr18	60242433	60242433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttatcctaatccaatgcctgGaccaatgtaccgagtccctt	10	12	6	13	1	0	0	0	0	0	0	3	2	3	1	6	1	2	1	6	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:60242433G>A	ENST00000269499.5	+	13	3537	c.3119G>A	c.(3118-3120)gGa>gAa	p.G1040E	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.G719E	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1040						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CCAATGCCTGGACCAATGTAC	0.468																																						ENST00000269499.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(3118-3120)gGa>gAa		zinc finger, CCHC domain containing 2							69	76	73					18																	60242433		2038	4191	6229	SO:0001583	missense	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60242433G>A	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"Zinc fingers, CCHC domain containing"	22916	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 49"	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.3119G>A	18.37:g.60242433G>A	ENSP00000269499:p.Gly1040Glu					ZCCHC2_ENST00000586834.1_Missense_Mutation_p.G719E	p.G1040E	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN			13	3537	+			1040					B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	c.3119G>A	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097187	0.76870	.	.	ENSG00000141664	ENST00000269499	T	0.30714	1.52	5.29	5.29	0.74685	.	0.074834	0.53938	D	0.000047	T	0.55114	0.1900	M	0.63843	1.955	0.58432	D	0.999996	D	0.89917	1.0	D	0.74023	0.982	T	0.56517	-0.7966	10	0.72032	D	0.01	-13.1912	19.3098	0.94182	0.0:0.0:1.0:0.0	.	1040	Q9C0B9	ZCHC2_HUMAN	E	1040	ENSP00000269499:G1040E	ENSP00000269499:G1040E	G	+	2	0	ZCCHC2	58393413	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	4.233000	0.58651	2.625000	0.88918	0.650000	0.86243	GGA		0.468	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		19	15	0	0	0	1	0	19	15					A	60242433	G	A	60242433	3	1	435	1	0	0	0	0	1	0	0	0	17584	1174	41	3	3169	3	ZCCHC2	18	60242433	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	595	60242433	17834815	7826	28751											
PHLPP1	23239	broad.mit.edu	37	chr18	60646053	60646053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctaccccagtgagcagCgctgcatgctccaccccatc	7	7	8	19	1	0	1	0	1	0	0	2	1	1	1	6	0	6	4	6	0	1	1	rs569551998		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:60646053C>T	ENST00000262719.5	+	17	4777	c.4543C>T	c.(4543-4545)Cgc>Tgc	p.R1515C	PHLPP1_ENST00000400316.4_Missense_Mutation_p.R1003C			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1515					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CAGTGAGCAGCGCTGCATGCT	0.627													C|||	1	0.000199681	0	0	5008	,	,		20374	0.001		0	False		,,,				2504	0					ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(3007-3009)Cgc>Tgc		PH domain and leucine rich repeat protein phosphatase 1							40	42	42					18																	60646053		2096	4229	6325	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60646053C>T	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4543C>T	18.37:g.60646053C>T	ENSP00000262719:p.Arg1515Cys					PHLPP1_ENST00000262719.5_Missense_Mutation_p.R1515C	p.R1003C	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			17	4788	+			1515					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.3007C>T	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995230	0.35226	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.27256	1.79;1.68	4.05	4.05	0.47172	.	.	.	.	.	T	0.21881	0.0527	L	0.28458	0.855	0.53005	D	0.999966	B	0.19200	0.034	B	0.08055	0.003	T	0.08722	-1.0708	9	0.87932	D	0	-16.6367	16.3974	0.83613	0.0:1.0:0.0:0.0	.	1515	O60346	PHLP1_HUMAN	C	1003;1515	ENSP00000383170:R1003C;ENSP00000262719:R1515C	ENSP00000262719:R1515C	R	+	1	0	PHLPP1	58797033	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.317000	0.59184	2.078000	0.62432	0.555000	0.69702	CGC		0.627	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		4	3	0	0	0	1	0	4	3					T	60646053	C	T	60646053	3	4	435	1	0	0	0	0	1	0	0	0	11854	768	27	1	4609	1	PHLPP1	18	60646053	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	403620	60646053	17431195	7827	28752											
PHLPP1	23239	broad.mit.edu	37	chr18	60646384	60646384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggcgccggagggccaatgGctctgttgcgccccaggaaa	7	6	16	12	3	1	0	0	0	1	0	1	2	1	2	4	5	1	2	4	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:60646384G>A	ENST00000262719.5	+	17	5108	c.4874G>A	c.(4873-4875)gGc>gAc	p.G1625D	PHLPP1_ENST00000400316.4_Missense_Mutation_p.G1113D			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1625					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						AGGGCCAATGGCTCTGTTGCG	0.607																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(3337-3339)gGc>gAc		PH domain and leucine rich repeat protein phosphatase 1							30	33	32					18																	60646384		1959	4151	6110	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60646384G>A	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4874G>A	18.37:g.60646384G>A	ENSP00000262719:p.Gly1625Asp					PHLPP1_ENST00000262719.5_Missense_Mutation_p.G1625D	p.G1113D	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			17	5119	+			1625					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.3338G>A	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433602	0.83776	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.66099	0.35;-0.19	4.08	4.08	0.47627	.	.	.	.	.	T	0.76652	0.4017	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80487	-0.1361	9	0.87932	D	0	-18.9999	16.4745	0.84128	0.0:0.0:1.0:0.0	.	1625	O60346	PHLP1_HUMAN	D	1113;1625	ENSP00000383170:G1113D;ENSP00000262719:G1625D	ENSP00000262719:G1625D	G	+	2	0	PHLPP1	58797364	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	9.327000	0.96396	2.115000	0.64714	0.561000	0.74099	GGC		0.607	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		8	10	0	0	0	1	0	8	10					A	60646384	G	A	60646384	3	1	435	1	0	0	0	0	1	0	0	0	11854	1203	42	3	4940	3	PHLPP1	18	60646384	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	331	60646384	17430864	7828	28753											
SERPINB5	5268	broad.mit.edu	37	chr18	61170612	61170612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcacagtggactaatcccaGcaccatggccaatgccaagg	12	6	10	13	0	1	0	1	0	0	0	2	1	2	1	4	3	2	1	4	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:61170612G>A	ENST00000382771.4	+	7	1077	c.785G>A	c.(784-786)aGc>aAc	p.S262N	SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	262					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						ACTAATCCCAGCACCATGGCC	0.373																																						ENST00000382771.4																			0				kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						c.(784-786)aGc>aAc		serpin peptidase inhibitor, clade B (ovalbumin), member 5							53	51	52					18																	61170612		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61170612G>A	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"Serine (or cysteine) peptidase inhibitors"	8949	protein-coding gene	gene with protein product	"protease inhibitor 5 (maspin)"	154790	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.785G>A	18.37:g.61170612G>A	ENSP00000372221:p.Ser262Asn					SERPINB5_ENST00000464346.1_3'UTR	p.S262N	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN			7	1077	+			262					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.785G>A	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	G	32	5.176395	0.94846	.	.	ENSG00000206075	ENST00000382771	D	0.84370	-1.84	5.95	5.95	0.96441	Serpin domain (3);	0.100486	0.64402	D	0.000001	D	0.88808	0.6537	L	0.48877	1.53	0.80722	D	1	P	0.49783	0.928	P	0.55112	0.769	D	0.88512	0.3090	10	0.62326	D	0.03	.	20.3886	0.98946	0.0:0.0:1.0:0.0	.	262	P36952	SPB5_HUMAN	N	262	ENSP00000372221:S262N	ENSP00000372221:S262N	S	+	2	0	SERPINB5	59321592	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.394000	0.66285	2.824000	0.97209	0.655000	0.94253	AGC		0.373	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		13	28	0	0	0	1	0	13	28					A	61170612	G	A	61170612	3	1	435	1	0	0	0	0	1	0	0	0	14104	971	34	3	807	3	SERPINB5	18	61170612	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	524228	61170612	16906636	7829	28754											
SERPINB13	5275	broad.mit.edu	37	chr18	61255918	61255918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcatggattcacttggcgCcgtcagcactcgacttgggt	7	11	11	12	3	3	0	3	0	0	0	4	2	3	1	1	3	1	1	1	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:61255918C>T	ENST00000344731.5	+	2	119	c.17C>T	c.(16-18)gCc>gTc	p.A6V	SERPINB13_ENST00000269489.5_Missense_Mutation_p.A6V	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	6					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TCACTTGGCGCCGTCAGCACT	0.423																																						ENST00000344731.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(16-18)gCc>gTc		serpin peptidase inhibitor, clade B (ovalbumin), member 13							92	89	90					18																	61255918		2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61255918C>T	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"Serine (or cysteine) peptidase inhibitors"	8944	protein-coding gene	gene with protein product		604445	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.17C>T	18.37:g.61255918C>T	ENSP00000341584:p.Ala6Val					SERPINB13_ENST00000269489.5_Missense_Mutation_p.A6V	p.A6V	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN			2	119	+			6					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.17C>T	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610112	0.46527	.	.	ENSG00000197641	ENST00000431153;ENST00000269489;ENST00000539341;ENST00000344731	T;T;D	0.83250	-0.9;2.75;-1.7	4.89	0.804	0.18697	Serpin domain (1);	0.665922	0.13840	N	0.359130	T	0.67411	0.2890	N	0.17872	0.535	0.09310	N	1	B;B	0.27910	0.136;0.193	B;B	0.30716	0.091;0.119	T	0.55276	-0.8166	10	0.35671	T	0.21	.	4.3236	0.11029	0.3937:0.404:0.1282:0.0741	.	6;6	B7ZKV6;Q9UIV8	.;SPB13_HUMAN	V	36;6;6;6	ENSP00000388300:A36V;ENSP00000269489:A6V;ENSP00000341584:A6V	ENSP00000269489:A6V	A	+	2	0	SERPINB13	59406898	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.081000	0.14823	0.245000	0.21373	0.561000	0.74099	GCC		0.423	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		24	41	0	0	0	1	0	24	41					T	61255918	C	T	61255918	3	4	435	1	0	0	0	0	1	0	0	0	14100	739	26	3	19	3	SERPINB13	18	61255918	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	85306	61255918	16821330	7830	28755											
CDH19	28513	broad.mit.edu	37	chr18	64212131	64212131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagattcagagacagtcaagCggtataaacctttaaaaaca	18	8	7	8	1	2	2	2	0	0	2	2	3	2	2	1	1	3	1	1	1	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:64212131C>T	ENST00000540086.1	-	6	1031	c.785G>A	c.(784-786)cGc>cAc	p.R262H	CDH19_ENST00000262150.2_Missense_Mutation_p.R262H	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	372	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GACAGTCAAGCGGTATAAACC	0.323																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(784-786)cGc>cAc		cadherin 19, type 2							80	72	74					18																	64212131		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64212131C>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.785G>A	18.37:g.64212131C>T	ENSP00000439593:p.Arg262His					CDH19_ENST00000540086.1_Missense_Mutation_p.R262H	p.R262H	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			6	1077	-		Esophageal squamous(42;0.0132)	262			Cadherin 3.		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.785G>A	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	C	5.416	0.261912	0.10239	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.50548	0.74;0.74	5.28	4.29	0.51040	Cadherin (4);Cadherin-like (1);	0.354861	0.29775	N	0.011240	T	0.25606	0.0623	N	0.16656	0.425	0.28271	N	0.924421	B;B	0.29432	0.027;0.244	B;B	0.30572	0.01;0.117	T	0.06499	-1.0823	10	0.23891	T	0.37	.	3.0947	0.06305	0.0:0.5085:0.295:0.1965	.	262;262	F5H1K0;Q9H159	.;CAD19_HUMAN	H	262;262;207	ENSP00000262150:R262H;ENSP00000439593:R262H	ENSP00000262150:R262H	R	-	2	0	CDH19	62363111	0.947000	0.32204	0.935000	0.37517	0.112000	0.19704	1.727000	0.38095	2.464000	0.83262	0.491000	0.48974	CGC		0.323	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		7	24	0	0	0	1	0	7	24					T	64212131	C	T	64212131	3	4	435	1	0	0	0	0	1	0	0	0	3104	768	27	1	1561	1	CDH19	18	64212131	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2956213	64212131	13865117	7831	28756											
DSEL	92126	broad.mit.edu	37	chr18	65178558	65178558	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaagtgagacaagagggaCactgcatttgatttggattt	13	11	11	6	0	0	3	0	2	0	2	0	6	0	5	0	2	1	1	0	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:65178558C>G	ENST00000310045.7	-	2	4791	c.3318G>C	c.(3316-3318)gtG>gtC	p.V1106V	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1096					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			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)				ACAAGAGGGACACTGCATTTG	0.393																																						ENST00000310045.7																			0				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						c.(3316-3318)gtG>gtC		dermatan sulfate epimerase-like							59	56	57					18																	65178558		2203	4300	6503	SO:0001819	synonymous_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178558C>G	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3318G>C	18.37:g.65178558C>G						CTD-2541J13.2_ENST00000583493.1_RNA	p.V1106V	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4791	-		Esophageal squamous(42;0.129)	1096					Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	c.3318G>C	CCDS11995.1																																																																																				0.393	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		9	86	0	0	0	1	0	9	86					G	65178558	C	G	65178558	2	3	435	1	0	0	0	0	0	0	0	1	4775	465	17	5		5	DSEL	18	65178558	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	966427	65178558	12898690	7832	28757											
DSEL	92126	broad.mit.edu	37	chr18	65181514	65181514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacttggcagcaaaatcaGcatgctttggtggaggtagg	10	10	13	8	0	1	0	1	0	0	0	2	1	2	1	1	5	3	5	1	5	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:65181514G>A	ENST00000310045.7	-	2	1835	c.362C>T	c.(361-363)gCt>gTt	p.A121V	CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	111					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			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)				AGCAAAATCAGCATGCTTTGG	0.413																																						ENST00000310045.7																			0				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						c.(361-363)gCt>gTt		dermatan sulfate epimerase-like							117	103	108					18																	65181514		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65181514G>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.362C>T	18.37:g.65181514G>A	ENSP00000310565:p.Ala121Val						p.A121V	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	1835	-		Esophageal squamous(42;0.129)	111					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.362C>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966858	0.34659	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.26518	1.73	4.69	2.8	0.32819	.	0.427152	0.22080	U	0.064904	T	0.17662	0.0424	L	0.35723	1.085	0.30123	N	0.805486	B	0.06786	0.001	B	0.06405	0.002	T	0.13202	-1.0518	10	0.29301	T	0.29	-4.9766	7.6278	0.28222	0.0836:0.0:0.628:0.2884	.	111	Q8IZU8	DSEL_HUMAN	V	121;111	ENSP00000310565:A121V	ENSP00000310565:A121V	A	-	2	0	DSEL	63332494	1.000000	0.71417	0.465000	0.27155	0.979000	0.70002	3.102000	0.50291	0.469000	0.27268	0.561000	0.74099	GCT		0.413	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		42	47	0	0	0	1	0	42	47					A	65181514	G	A	65181514	3	1	435	1	0	0	0	0	1	0	0	0	4775	971	34	3	3310	3	DSEL	18	65181514	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2956	65181514	12895734	7833	28758											
CD226	10666	broad.mit.edu	37	chr18	67562982	67562982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtttcgttttctcctgCgctggcctgcaagtagcagc	6	12	12	11	2	1	0	0	0	1	0	3	1	1	0	2	2	4	6	2	2	3	4	rs146723371	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:67562982C>T	ENST00000280200.4	-	4	950	c.682G>A	c.(682-684)Gca>Aca	p.A228T	CD226_ENST00000582621.1_Missense_Mutation_p.A228T|CD226_ENST00000581982.1_Missense_Mutation_p.A73T|CD226_ENST00000577287.1_Missense_Mutation_p.A73T	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	228	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)	p.A228T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TTTTCTCCTGCGCTGGCCTGC	0.542													C|||	4	0.000798722	0.003	0	5008	,	,		18442	0		0	False		,,,				2504	0				NSCLC(184;838 2130 8673 21498 50749)	ENST00000280200.4																			1	Substitution - Missense(1)	p.A228T(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24						c.(682-684)Gca>Aca		CD226 molecule		C	THR/ALA	4,4402	8.1+/-20.4	0,4,2199	133	134	134		682	-0.9	0	18	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CD226	NM_006566.2	58	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	benign	228/337	67562982	5,13001	2203	4300	6503	SO:0001583	missense	10666				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	g.chr18:67562982C>T	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	16961	protein-coding gene	gene with protein product		605397	"CD226 antigen"			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.682G>A	18.37:g.67562982C>T	ENSP00000280200:p.Ala228Thr					CD226_ENST00000582621.1_Missense_Mutation_p.A228T|CD226_ENST00000577287.1_Missense_Mutation_p.A73T|CD226_ENST00000581982.1_Missense_Mutation_p.A73T	p.A228T	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN			4	950	-		Esophageal squamous(42;0.129)	228			Ig-like C2-type 2.		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.682G>A	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	C	1.448	-0.565719	0.03910	9.08E-4	1.16E-4	ENSG00000150637	ENST00000280200	T	0.12255	2.7	4.82	-0.932	0.10435	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.434279	0.24513	N	0.037863	T	0.01489	0.0048	N	0.00092	-2.175	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40776	-0.9545	10	0.02654	T	1	.	2.8128	0.05446	0.318:0.183:0.0:0.499	.	228	Q15762	CD226_HUMAN	T	228	ENSP00000280200:A228T	ENSP00000280200:A228T	A	-	1	0	CD226	65713962	0.012000	0.17670	0.001000	0.08648	0.004000	0.04260	0.019000	0.13444	-0.166000	0.10890	-0.300000	0.09419	GCA		0.542	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		40	67	0	0	0	1	0	40	67					T	67562982	C	T	67562982	3	4	435	1	0	0	0	0	1	0	0	0	2986	768	27	1	344	1	CD226	18	67562982	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2381468	67562982	10514266	7834	28759											
NETO1	81832	broad.mit.edu	37	chr18	70450987	70450987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcccacatgcggatcaccCcaagacccgtgcgtagcatg	9	6	10	16	3	1	1	1	0	0	1	1	2	1	2	4	1	4	2	4	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:70450987C>T	ENST00000327305.6	-	7	1451	c.794G>A	c.(793-795)gGg>gAg	p.G265E	NETO1_ENST00000299430.2_Missense_Mutation_p.G264E|NETO1_ENST00000583169.1_Missense_Mutation_p.G265E	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	265	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				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)		GCGGATCACCCCAAGACCCGT	0.468																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(793-795)gGg>gAg		neuropilin (NRP) and tolloid (TLL)-like 1							193	164	174					18																	70450987		2203	4300	6503	SO:0001583	missense	81832				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	g.chr18:70450987C>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.794G>A	18.37:g.70450987C>T	ENSP00000313088:p.Gly265Glu					NETO1_ENST00000583169.1_Missense_Mutation_p.G265E|NETO1_ENST00000299430.2_Missense_Mutation_p.G264E	p.G265E	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	7	1451	-		Esophageal squamous(42;0.129)	265			CUB 2.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.794G>A	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693866	0.88735	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.17528	2.27;2.27	5.54	3.72	0.42706	CUB (5);	0.094486	0.44902	D	0.000403	T	0.41328	0.1154	M	0.75447	2.3	0.80722	D	1	D;D	0.63046	0.992;0.992	P;D	0.65684	0.892;0.937	T	0.43507	-0.9387	10	0.66056	D	0.02	-24.0699	16.3041	0.82841	0.0:0.7497:0.2503:0.0	.	264;265	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	E	265;264	ENSP00000313088:G265E;ENSP00000299430:G264E	ENSP00000299430:G264E	G	-	2	0	NETO1	68601967	1.000000	0.71417	0.905000	0.35620	0.916000	0.54674	6.045000	0.71020	0.779000	0.33543	0.650000	0.86243	GGG		0.468	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		35	80	0	0	0	1	0	35	80					T	70450987	C	T	70450987	3	4	435	1	0	0	0	0	1	0	0	0	10339	623	22	3	823	3	NETO1	18	70450987	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2888005	70450987	7626261	7835	28760											
CNDP2	55748	broad.mit.edu	37	chr18	72178055	72178055	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttctcacaggagattcCtgtcaacgtccgattctgcc	7	12	7	15	2	3	1	2	0	2	1	7	3	6	1	4	1	2	0	4	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:72178055C>A	ENST00000324262.4	+	6	780	c.464C>A	c.(463-465)cCt>cAt	p.P155H	CNDP2_ENST00000324301.8_Missense_Mutation_p.P71H|CNDP2_ENST00000579847.1_Missense_Mutation_p.P155H	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	155					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			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)		CAGGAGATTCCTGTCAACGTC	0.498																																						ENST00000324262.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.(463-465)cCt>cAt		CNDP dipeptidase 2 (metallopeptidase M20 family)							114	104	107					18																	72178055		2203	4300	6503	SO:0001583	missense	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72178055C>A	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"cytosolic nonspecific dipeptidase"	169800	"peptidase A"	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.464C>A	18.37:g.72178055C>A	ENSP00000325548:p.Pro155His					CNDP2_ENST00000579847.1_Missense_Mutation_p.P155H|CNDP2_ENST00000324301.8_Missense_Mutation_p.P71H	p.P155H	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	6	780	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	155					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	c.464C>A	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916010	0.52546	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.08984	3.03;3.03	6.17	6.17	0.99709	ArgE/DapE/ACY1/CPG2/YscS, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	H	0.95982	3.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.60530	-0.7245	10	0.87932	D	0	-26.8813	20.8794	0.99867	0.0:1.0:0.0:0.0	.	71;155	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	H	155;71	ENSP00000325548:P155H;ENSP00000325756:P71H	ENSP00000325548:P155H	P	+	2	0	CNDP2	70329035	1.000000	0.71417	0.145000	0.22337	0.059000	0.15707	7.731000	0.84895	2.941000	0.99782	0.655000	0.94253	CCT		0.498	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		13	37	1	0	9.05144e-12	1	9.75833e-12	13	37					A	72178055	C	A	72178055	3	1	435	1	0	0	0	0	1	0	0	0	3594	681	24	5	482	5	CNDP2	18	72178055	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1727068	72178055	5899193	7836	28761											
CNDP2	55748	broad.mit.edu	37	chr18	72179721	72179721	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctccattctggggtgtaCgggggctcggtgcatgaggc	5	9	17	10	2	1	1	0	1	1	0	3	2	2	1	2	6	2	3	2	6	1	2	rs201331505		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:72179721C>T	ENST00000324262.4	+	7	1012	c.696C>T	c.(694-696)taC>taT	p.Y232Y	CNDP2_ENST00000324301.8_Silent_p.Y148Y|CNDP2_ENST00000579847.1_Silent_p.Y232Y	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	232					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.Y232Y(1)		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)		CTGGGGTGTACGGGGGCTCGG	0.542																																						ENST00000324262.4																			1	Substitution - coding silent(1)	p.Y232Y(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.(694-696)taC>taT		CNDP dipeptidase 2 (metallopeptidase M20 family)		C	,	0,4406		0,0,2203	212	168	183		444,696	-4.6	0.5	18		183	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	CNDP2	NM_001168499.1,NM_018235.2	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	148/392,232/476	72179721	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72179721C>T	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"cytosolic nonspecific dipeptidase"	169800	"peptidase A"	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.696C>T	18.37:g.72179721C>T						CNDP2_ENST00000579847.1_Silent_p.Y232Y|CNDP2_ENST00000324301.8_Silent_p.Y148Y	p.Y232Y	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	7	1012	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	232					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Silent	SNP	ENST00000324262.4	37	c.696C>T	CCDS12006.1																																																																																				0.542	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		23	33	0	0	0	1	0	23	33					T	72179721	C	T	72179721	2	4	435	1	0	0	0	0	0	0	0	1	3594	547	19	1		1	CNDP2	18	72179721	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1666	72179721	5897527	7837	28762											
ZNF407	55628	broad.mit.edu	37	chr18	72344288	72344288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcactttcaccttgaaggGccaggcaaagaaaaggttta	14	8	10	9	0	1	2	1	1	0	1	1	2	1	2	2	3	1	3	2	3	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:72344288G>A	ENST00000299687.5	+	1	1313	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D	ZNF407_ENST00000309902.6_Missense_Mutation_p.G438D|ZNF407_ENST00000582337.1_Missense_Mutation_p.G438D|ZNF407_ENST00000577538.1_Missense_Mutation_p.G438D	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)		ACCTTGAAGGGCCAGGCAAAG	0.428																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(1312-1314)gGc>gAc		zinc finger protein 407							68	68	68					18																	72344288		1885	4128	6013	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72344288G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1313G>A	18.37:g.72344288G>A	ENSP00000299687:p.Gly438Asp					ZNF407_ENST00000577538.1_Missense_Mutation_p.G438D|ZNF407_ENST00000309902.6_Missense_Mutation_p.G438D|ZNF407_ENST00000582337.1_Missense_Mutation_p.G438D	p.G438D	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	1313	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	438					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.1313G>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513551	0.64522	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.09538	2.97;3.41	5.39	2.27	0.28462	.	0.787900	0.09778	U	0.757119	T	0.18841	0.0452	L	0.50333	1.59	0.30039	N	0.812753	P;D;P	0.56287	0.904;0.975;0.845	P;P;B	0.56343	0.494;0.796;0.298	T	0.15407	-1.0438	10	0.17369	T	0.5	.	9.4727	0.38853	0.0758:0.4152:0.509:0.0	.	438;438;438	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	D	438	ENSP00000299687:G438D;ENSP00000310359:G438D	ENSP00000299687:G438D	G	+	2	0	ZNF407	70473276	0.998000	0.40836	0.933000	0.37362	0.987000	0.75469	1.246000	0.32803	0.040000	0.15660	-0.157000	0.13467	GGC		0.428	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		11	34	0	0	0	1	0	11	34					A	72344288	G	A	72344288	3	1	435	1	0	0	0	0	1	0	0	0	17884	1203	42	3	1315	3	ZNF407	18	72344288	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	164567	72344288	5732960	7838	28763											
ZNF407	55628	broad.mit.edu	37	chr18	72345307	72345307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgaagaatgtattgaaaggGtatgtataggtgcaaatgat	15	13	12	1	0	0	4	0	3	0	1	0	4	0	4	0	2	1	4	0	2	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:72345307G>A	ENST00000299687.5	+	1	2332	c.2332G>A	c.(2332-2334)Gta>Ata	p.V778I	ZNF407_ENST00000309902.6_Missense_Mutation_p.V778I|ZNF407_ENST00000582337.1_Missense_Mutation_p.V778I|ZNF407_ENST00000577538.1_Missense_Mutation_p.V778I	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	778					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)		TATTGAAAGGGTATGTATAGG	0.343																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(2332-2334)Gta>Ata		zinc finger protein 407							103	102	102					18																	72345307		1846	4089	5935	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72345307G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2332G>A	18.37:g.72345307G>A	ENSP00000299687:p.Val778Ile					ZNF407_ENST00000577538.1_Missense_Mutation_p.V778I|ZNF407_ENST00000309902.6_Missense_Mutation_p.V778I|ZNF407_ENST00000582337.1_Missense_Mutation_p.V778I	p.V778I	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	2332	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	778					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.2332G>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399974	0.42613	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.21543	2.0;2.63	5.71	4.84	0.62591	.	0.000000	0.32416	U	0.006137	T	0.20495	0.0493	L	0.46157	1.445	0.36043	D	0.840202	P;B;B	0.41041	0.736;0.197;0.414	B;B;B	0.38500	0.275;0.188;0.092	T	0.20306	-1.0279	10	0.32370	T	0.25	.	14.4874	0.67626	0.0703:0.0:0.9297:0.0	.	778;778;778	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	I	778	ENSP00000299687:V778I;ENSP00000310359:V778I	ENSP00000299687:V778I	V	+	1	0	ZNF407	70474295	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.709000	0.68384	2.180000	0.69256	0.377000	0.23210	GTA		0.343	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		26	41	0	0	0	1	0	26	41					A	72345307	G	A	72345307	3	1	435	1	0	0	0	0	1	0	0	0	17884	1261	44	3	2334	3	ZNF407	18	72345307	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1019	72345307	5731941	7839	28764											
ZNF407	55628	broad.mit.edu	37	chr18	72346077	72346077	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctctgcttctctagagctGcatgtaaaacggaaacatac	12	11	7	11	1	2	1	0	0	2	1	4	2	3	2	1	1	6	4	1	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:72346077G>A	ENST00000299687.5	+	1	3102	c.3102G>A	c.(3100-3102)ctG>ctA	p.L1034L	ZNF407_ENST00000309902.6_Silent_p.L1034L|ZNF407_ENST00000582337.1_Silent_p.L1034L|ZNF407_ENST00000577538.1_Silent_p.L1034L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1034					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)		CTCTAGAGCTGCATGTAAAAC	0.483																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(3100-3102)ctG>ctA		zinc finger protein 407							121	123	123					18																	72346077		2020	4184	6204	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72346077G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3102G>A	18.37:g.72346077G>A						ZNF407_ENST00000577538.1_Silent_p.L1034L|ZNF407_ENST00000309902.6_Silent_p.L1034L|ZNF407_ENST00000582337.1_Silent_p.L1034L	p.L1034L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	3102	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1034					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.3102G>A	CCDS45885.1																																																																																				0.483	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		27	65	0	0	0	1	0	27	65					A	72346077	G	A	72346077	2	1	435	1	0	0	0	0	0	0	0	1	17884	1306	46	3		3	ZNF407	18	72346077	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	770	72346077	5731171	7840	28765											
ZNF407	55628	broad.mit.edu	37	chr18	72775125	72775125	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcattgtttccaagtcgtaCgagtgccgtctaaagggaca	10	10	12	9	3	1	0	0	0	1	0	3	2	2	1	2	2	2	3	2	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:72775125C>T	ENST00000299687.5	+	8	5448	c.5448C>T	c.(5446-5448)taC>taT	p.Y1816Y		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1816					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)		CCAAGTCGTACGAGTGCCGTC	0.557																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(5446-5448)taC>taT		zinc finger protein 407							83	93	90					18																	72775125		2087	4204	6291	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775125C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5448C>T	18.37:g.72775125C>T							p.Y1816Y	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	5448	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1816					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.5448C>T	CCDS45885.1																																																																																				0.557	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		24	45	0	0	0	1	0	24	45					T	72775125	C	T	72775125	2	4	435	1	0	0	0	0	0	0	0	1	17884	547	19	1		1	ZNF407	18	72775125	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	429048	72775125	5302123	7841	28766											
ZNF407	55628	broad.mit.edu	37	chr18	72776060	72776060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatcatcatgcaggaggCgcagggcgagcacatggatc	11	5	14	11	2	2	1	2	0	0	1	3	4	2	3	1	4	2	3	1	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:72776060C>T	ENST00000299687.5	+	8	6383	c.6383C>T	c.(6382-6384)gCg>gTg	p.A2128V		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)		ATGCAGGAGGCGCAGGGCGAG	0.647																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(6382-6384)gCg>gTg		zinc finger protein 407							30	37	35					18																	72776060		2180	4269	6449	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72776060C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.6383C>T	18.37:g.72776060C>T	ENSP00000299687:p.Ala2128Val						p.A2128V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	6383	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	2128					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.6383C>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085194	0.55861	.	.	ENSG00000215421	ENST00000299687	T	0.15603	2.41	4.67	4.67	0.58626	.	.	.	.	.	T	0.22244	0.0536	M	0.64997	1.995	0.53005	D	0.999964	D	0.52996	0.957	B	0.40677	0.337	T	0.00193	-1.1934	9	0.87932	D	0	.	15.7626	0.78096	0.0:1.0:0.0:0.0	.	2128	Q9C0G0	ZN407_HUMAN	V	2128	ENSP00000299687:A2128V	ENSP00000299687:A2128V	A	+	2	0	ZNF407	70905048	0.998000	0.40836	0.008000	0.14137	0.490000	0.33462	4.272000	0.58908	-0.611000	0.05709	-0.467000	0.05162	GCG		0.647	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		3	5	0	0	0	1	0	3	5					T	72776060	C	T	72776060	3	4	435	1	0	0	0	0	1	0	0	0	17884	768	27	1	6543	1	ZNF407	18	72776060	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	935	72776060	5301188	7842	28767											
TSHZ1	10194	broad.mit.edu	37	chr18	72998132	72998132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtgccgcgtacgacaCgctggtggaactgacggtgc	7	7	15	12	5	0	1	0	1	0	0	0	3	0	2	1	3	5	3	1	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:72998132C>T	ENST00000580243.1	+	2	1118	c.770C>T	c.(769-771)aCg>aTg	p.T257M	TSHZ1_ENST00000322038.5_Missense_Mutation_p.T212M			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	257					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCGTACGACACGCTGGTGGAA	0.602																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(634-636)aCg>aTg		teashirt zinc finger homeobox 1							86	68	74					18																	72998132		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72998132C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.770C>T	18.37:g.72998132C>T	ENSP00000464391:p.Thr257Met					TSHZ1_ENST00000580243.1_Missense_Mutation_p.T257M	p.T212M	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	1219	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	257					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.635C>T		.	.	.	.	.	.	.	.	.	.	C	11.69	1.713543	0.30413	.	.	ENSG00000179981	ENST00000322038	T	0.14391	2.51	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.39809	0.1092	M	0.68952	2.095	0.32418	N	0.549754	D	0.89917	1.0	D	0.79108	0.992	T	0.53401	-0.8444	10	0.87932	D	0	-26.1025	19.2229	0.93805	0.0:1.0:0.0:0.0	.	257	Q6ZSZ6	TSH1_HUMAN	M	212	ENSP00000323584:T212M	ENSP00000323584:T212M	T	+	2	0	TSHZ1	71127120	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	7.484000	0.81180	-0.205000	0.10219	-0.794000	0.03295	ACG		0.602	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		9	18	0	0	0	1	0	9	18					T	72998132	C	T	72998132	3	4	435	1	0	0	0	0	1	0	0	0	16620	536	19	1	637	1	TSHZ1	18	72998132	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	222072	72998132	5079116	7843	28768											
TSHZ1	10194	broad.mit.edu	37	chr18	72998426	72998426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctccaccaaaaagcgggCgcttcaggacctggcgcccc	8	4	10	19	3	1	0	1	0	0	0	2	1	2	1	7	3	1	1	7	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:72998426C>T	ENST00000580243.1	+	2	1412	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	TSHZ1_ENST00000322038.5_Missense_Mutation_p.A310V			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	355					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AAAAAGCGGGCGCTTCAGGAC	0.602																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(928-930)gCg>gTg		teashirt zinc finger homeobox 1							78	81	80					18																	72998426		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72998426C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1064C>T	18.37:g.72998426C>T	ENSP00000464391:p.Ala355Val					TSHZ1_ENST00000580243.1_Missense_Mutation_p.A355V	p.A310V	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	1513	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	355					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.929C>T		.	.	.	.	.	.	.	.	.	.	C	11.50	1.658140	0.29425	.	.	ENSG00000179981	ENST00000322038	T	0.12147	2.71	5.27	5.27	0.74061	.	0.059016	0.64402	D	0.000002	T	0.11024	0.0269	L	0.31845	0.965	0.19300	N	0.999978	B	0.31968	0.349	B	0.20955	0.032	T	0.59451	-0.7452	10	0.30078	T	0.28	-23.5663	12.2676	0.54686	0.0:0.9225:0.0:0.0775	.	355	Q6ZSZ6	TSH1_HUMAN	V	310	ENSP00000323584:A310V	ENSP00000323584:A310V	A	+	2	0	TSHZ1	71127414	1.000000	0.71417	0.000000	0.03702	0.933000	0.57130	5.529000	0.67135	-4.074000	0.00076	-0.258000	0.10820	GCG		0.602	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		8	16	0	0	0	1	0	8	16					T	72998426	C	T	72998426	3	4	435	1	0	0	0	0	1	0	0	0	16620	768	27	1	931	1	TSHZ1	18	72998426	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	294	72998426	5078822	7844	28769											
ZNF516	9658	broad.mit.edu	37	chr18	74091238	74091238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacaggcttgctattggcCgagggctgcgcgccagcccg	5	7	14	15	4	0	0	0	0	0	0	1	1	1	0	4	3	3	3	4	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:74091238C>T	ENST00000443185.2	-	4	3149	c.2832G>A	c.(2830-2832)tcG>tcA	p.S944S	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	944					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		TGCTATTGGCCGAGGGCTGCG	0.677																																						ENST00000443185.2																			0				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						c.(2830-2832)tcG>tcA		zinc finger protein 516							19	24	23					18																	74091238		1769	3903	5672	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091238C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2832G>A	18.37:g.74091238C>T						ZNF516_ENST00000524431.2_5'UTR	p.S944S	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	3149	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	944						Silent	SNP	ENST00000443185.2	37	c.2832G>A																																																																																					0.677	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		11	24	0	0	0	1	0	11	24					T	74091238	C	T	74091238	2	4	435	1	0	0	0	0	0	0	0	1	17957	639	23	2		2	ZNF516	18	74091238	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1092812	74091238	3986010	7845	28770											
ZNF516	9658	broad.mit.edu	37	chr18	74091286	74091286	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtgggcgtaggggtggcGctcctgctgaagcccccgcc	4	6	17	14	4	0	1	0	1	0	0	1	1	1	1	4	5	2	3	4	5	2	1	rs554719475		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:74091286G>A	ENST00000443185.2	-	4	3101	c.2784C>T	c.(2782-2784)agC>agT	p.S928S	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	928					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		TAGGGGTGGCGCTCCTGCTGA	0.726													G|||	1	0.000199681	8e-04	0	5008	,	,		12889	0		0	False		,,,				2504	0					ENST00000443185.2																			0				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						c.(2782-2784)agC>agT		zinc finger protein 516							13	17	16					18																	74091286		1796	3900	5696	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091286G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2784C>T	18.37:g.74091286G>A						ZNF516_ENST00000524431.2_5'UTR	p.S928S	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	3101	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	928						Silent	SNP	ENST00000443185.2	37	c.2784C>T																																																																																					0.726	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		19	16	0	0	0	1	0	19	16					A	74091286	G	A	74091286	2	1	435	1	0	0	0	0	0	0	0	1	17957	1078	38	1		1	ZNF516	18	74091286	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	48	74091286	3985962	7846	28771											
ZNF516	9658	broad.mit.edu	37	chr18	74153283	74153283	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcccggggagtcagcagcGgcacaggcggagccagggct	8	2	19	12	3	1	0	1	0	0	0	1	3	1	2	2	6	4	3	2	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:74153283G>A	ENST00000443185.2	-	3	2045	c.1728C>T	c.(1726-1728)gcC>gcT	p.A576A	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		AGTCAGCAGCGGCACAGGCGG	0.706																																						ENST00000443185.2																			0				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						c.(1726-1728)gcC>gcT		zinc finger protein 516							10	14	13					18																	74153283		2003	4100	6103	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74153283G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1728C>T	18.37:g.74153283G>A						ZNF516_ENST00000524431.2_5'UTR	p.A576A	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	2045	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	576						Silent	SNP	ENST00000443185.2	37	c.1728C>T																																																																																					0.706	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		10	18	0	0	0	1	0	10	18					A	74153283	G	A	74153283	2	1	435	1	0	0	0	0	0	0	0	1	17957	1103	39	2		2	ZNF516	18	74153283	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	61997	74153283	3923965	7847	28772											
ZNF236	7776	broad.mit.edu	37	chr18	74640018	74640018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgctgggcccactgccaCgtcttcctcggggtctccac	3	8	12	18	3	2	0	0	0	2	0	5	0	3	0	5	4	1	1	5	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:74640018C>T	ENST00000253159.8	+	25	4742	c.4544C>T	c.(4543-4545)aCg>aTg	p.T1515M	ZNF236_ENST00000320610.9_Missense_Mutation_p.T1517M	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1515					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		CCCACTGCCACGTCTTCCTCG	0.522																																						ENST00000253159.8																			0				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						c.(4543-4545)aCg>aTg		zinc finger protein 236							43	46	45					18																	74640018		1899	4115	6014	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74640018C>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4544C>T	18.37:g.74640018C>T	ENSP00000253159:p.Thr1515Met					ZNF236_ENST00000320610.9_Missense_Mutation_p.T1517M	p.T1515M	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	25	4742	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1515					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.4544C>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827708	0.32329	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T;T	0.12465	2.68;2.83;2.84	5.07	4.2	0.49525	.	0.994651	0.08164	N	0.988062	T	0.08758	0.0217	N	0.14661	0.345	0.09310	N	0.999999	P	0.43024	0.798	B	0.34385	0.181	T	0.29305	-1.0016	10	0.27082	T	0.32	.	13.4092	0.60933	0.0:0.924:0.0:0.0759	.	1515	Q9UL36	ZN236_HUMAN	M	1515	ENSP00000253159:T1515M;ENSP00000444524:T1515M;ENSP00000322361:T1515M	ENSP00000253159:T1515M	T	+	2	0	ZNF236	72769006	0.015000	0.18098	0.000000	0.03702	0.430000	0.31655	2.241000	0.43097	1.278000	0.44430	0.579000	0.79373	ACG		0.522	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			29	36	0	0	0	1	0	29	36					T	74640018	C	T	74640018	3	4	435	1	0	0	0	0	1	0	0	0	17786	536	19	1	4642	1	ZNF236	18	74640018	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	486735	74640018	3437230	7848	28773											
ZNF236	7776	broad.mit.edu	37	chr18	74672658	74672658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggccgttccattgcacgCtttgtgagaaagccttcaac	9	10	10	12	3	1	1	1	1	0	1	2	2	2	1	3	1	4	3	3	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:74672658C>T	ENST00000253159.8	+	30	5458	c.5260C>T	c.(5260-5262)Ctt>Ttt	p.L1754F	ZNF236_ENST00000320610.9_Missense_Mutation_p.L1756F	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1754					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		CCATTGCACGCTTTGTGAGAA	0.527																																						ENST00000253159.8																			0				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						c.(5260-5262)Ctt>Ttt		zinc finger protein 236							129	135	133					18																	74672658		1992	4180	6172	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74672658C>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.5260C>T	18.37:g.74672658C>T	ENSP00000253159:p.Leu1754Phe					ZNF236_ENST00000320610.9_Missense_Mutation_p.L1756F	p.L1754F	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	30	5458	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1754					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.5260C>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	7.320	0.616809	0.14129	.	.	ENSG00000130856	ENST00000253159	T	0.09073	3.02	5.29	4.41	0.53225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.083328	0.52532	D	0.000077	T	0.11580	0.0282	N	0.25286	0.73	0.38995	D	0.959227	D	0.55385	0.971	P	0.62298	0.9	T	0.33445	-0.9868	10	0.13470	T	0.59	.	9.4966	0.38993	0.0:0.7815:0.1442:0.0743	.	1754	Q9UL36	ZN236_HUMAN	F	1754	ENSP00000253159:L1754F	ENSP00000253159:L1754F	L	+	1	0	ZNF236	72801646	0.883000	0.30277	0.010000	0.14722	0.300000	0.27592	2.368000	0.44222	1.221000	0.43506	0.655000	0.94253	CTT		0.527	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			38	63	0	0	0	1	0	38	63					T	74672658	C	T	74672658	3	4	435	1	0	0	0	0	1	0	0	0	17786	797	28	3	5378	3	ZNF236	18	74672658	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32640	74672658	3404590	7849	28774											
SALL3	27164	broad.mit.edu	37	chr18	76753098	76753098	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacctcagacttccgccagCggcgtcatcttccccaaccc	7	8	6	20	3	3	1	2	0	1	1	5	1	5	1	6	1	3	0	6	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:76753098C>T	ENST00000537592.2	+	2	1107	c.1107C>T	c.(1105-1107)agC>agT	p.S369S	SALL3_ENST00000575389.2_Silent_p.S369S|SALL3_ENST00000536229.3_Silent_p.S236S	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	369					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTTCCGCCAGCGGCGTCATCT	0.716																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(706-708)agC>agT		spalt-like transcription factor 3							13	14	14					18																	76753098		2172	4255	6427	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753098C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1107C>T	18.37:g.76753098C>T						SALL3_ENST00000575389.2_Silent_p.S369S|SALL3_ENST00000537592.2_Silent_p.S369S	p.S236S			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	1417	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	369					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.708C>T	CCDS12013.1																																																																																				0.716	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		3	5	0	0	0	1	0	3	5					T	76753098	C	T	76753098	2	4	435	1	0	0	0	0	0	0	0	1	13812	767	27	1		1	SALL3	18	76753098	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2080440	76753098	1324150	7850	28775											
SALL3	27164	broad.mit.edu	37	chr18	76754985	76754985	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggaaatccactaccgcagCcatactaaggagcggccatt	12	8	9	12	2	0	0	0	0	0	0	1	2	1	2	4	3	4	1	4	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:76754985C>T	ENST00000537592.2	+	2	2994	c.2994C>T	c.(2992-2994)agC>agT	p.S998S	SALL3_ENST00000575389.2_Intron|SALL3_ENST00000536229.3_Intron	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	998					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACTACCGCAGCCATACTAAGG	0.542																																						ENST00000537592.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2992-2994)agC>agT		spalt-like transcription factor 3							61	61	61					18																	76754985		2203	4300	6503	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754985C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2994C>T	18.37:g.76754985C>T						SALL3_ENST00000575389.2_Intron|SALL3_ENST00000536229.3_Intron	p.S998S	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	2994	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	998					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.2994C>T	CCDS12013.1																																																																																				0.542	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		18	19	0	0	0	1	0	18	19					T	76754985	C	T	76754985	2	4	435	1	0	0	0	0	0	0	0	1	13812	738	26	3		3	SALL3	18	76754985	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1887	76754985	1322263	7851	28776											
NFATC1	4772	broad.mit.edu	37	chr18	77193714	77193714	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggggccgtgaaggcgtcGgccggaggacaccccatcgt	6	4	18	13	6	0	1	0	1	0	0	2	3	0	3	4	7	0	0	4	7	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:77193714G>A	ENST00000427363.2	+	3	1362	c.1362G>A	c.(1360-1362)tcG>tcA	p.S454S	NFATC1_ENST00000318065.5_Silent_p.S441S|NFATC1_ENST00000542384.1_Silent_p.S454S|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000591814.1_Silent_p.S454S|NFATC1_ENST00000592223.1_Silent_p.S441S|NFATC1_ENST00000253506.5_Silent_p.S454S|NFATC1_ENST00000587635.1_Silent_p.S454S|NFATC1_ENST00000329101.4_Silent_p.S441S|NFATC1_ENST00000586434.1_Silent_p.S441S|NFATC1_ENST00000397790.2_5'UTR			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	454	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S441S(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	TGAAGGCGTCGGCCGGAGGAC	0.622																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			1	Substitution - coding silent(1)	p.S441S(1)	endometrium(1)	NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(1360-1362)tcG>tcA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							50	52	52					18																	77193714		2203	4300	6503	SO:0001819	synonymous_variant	4772				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	g.chr18:77193714G>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1362G>A	18.37:g.77193714G>A						NFATC1_ENST00000329101.4_Silent_p.S441S|NFATC1_ENST00000427363.2_Silent_p.S454S|NFATC1_ENST00000542384.1_Silent_p.S454S|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000587635.1_Silent_p.S454S|NFATC1_ENST00000592223.1_Silent_p.S441S|NFATC1_ENST00000591814.1_Silent_p.S454S|NFATC1_ENST00000318065.5_Silent_p.S441S|NFATC1_ENST00000586434.1_Silent_p.S441S|NFATC1_ENST00000545796.1_5'UTR	p.S454S	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	3	1731	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	454			RHD.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.1362G>A																																																																																					0.622	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		6	40	0	0	0	1	0	6	40					A	77193714	G	A	77193714	2	1	435	1	0	0	0	0	0	0	0	1	10361	1103	39	2		2	NFATC1	18	77193714	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	438729	77193714	883534	7852	28777											
KCNG2	26251	broad.mit.edu	37	chr18	77659290	77659290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgcggctgctgcgtgCgctgcgcgtgctctacgtga	2	10	17	12	6	1	1	0	1	1	0	1	1	1	1	0	2	8	5	0	2	1	1	rs376845551		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:77659290C>T	ENST00000316249.3	+	2	875	c.875C>T	c.(874-876)gCg>gTg	p.A292V	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	292					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CTGCTGCGTGCGCTGCGCGTG	0.746																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(874-876)gCg>gTg		potassium voltage-gated channel, subfamily G, member 2		C	VAL/ALA	1,4109		0,1,2054	10	13	12		875	3.3	1	18		12	0,7994		0,0,3997	no	missense	KCNG2	NM_012283.1	64	0,1,6051	TT,TC,CC		0.0,0.0243,0.0083	probably-damaging	292/467	77659290	1,12103	2055	3997	6052	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659290C>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.875C>T	18.37:g.77659290C>T	ENSP00000315654:p.Ala292Val					KCNG2_ENST00000590307.1_3'UTR	p.A292V	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	875	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	292						Missense_Mutation	SNP	ENST00000316249.3	37	c.875C>T	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455411	0.63401	2.43E-4	0.0	ENSG00000178342	ENST00000316249	D	0.97994	-4.65	3.35	3.35	0.38373	Ion transport (1);	0.072732	0.56097	U	0.000039	D	0.96861	0.8975	N	0.21142	0.635	0.53688	D	0.999979	D	0.89917	1.0	D	0.83275	0.996	D	0.95175	0.8294	10	0.20519	T	0.43	.	14.868	0.70430	0.0:1.0:0.0:0.0	.	292	Q9UJ96	KCNG2_HUMAN	V	292	ENSP00000315654:A292V	ENSP00000315654:A292V	A	+	2	0	KCNG2	75760278	1.000000	0.71417	0.981000	0.43875	0.956000	0.61745	5.007000	0.63984	1.708000	0.51301	0.411000	0.27672	GCG		0.746	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		3	10	0	0	0	1	0	3	10					T	77659290	C	T	77659290	3	4	435	1	0	0	0	0	1	0	0	0	8028	768	27	1	881	1	KCNG2	18	77659290	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	465576	77659290	417958	7853	28778											
C18orf22	79863	broad.mit.edu	37	chr18	77798609	77798609	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgcagagaagtgccgcGcacatgaggtgatgaccttt	9	9	13	10	2	0	4	0	3	0	1	1	5	1	4	3	1	2	2	3	1	1	1	rs143262320	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:77798609G>A	ENST00000306735.5	+	4	621	c.483G>A	c.(481-483)gcG>gcA	p.A161A	RBFA_ENST00000262197.7_Silent_p.A161A|RP11-795F19.5_ENST00000569722.1_Intron|RP11-795F19.5_ENST00000564012.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	161					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GAAGTGCCGCGCACATGAGGT	0.498													G|||	2	0.000399361	0	0	5008	,	,		19011	0		0.001	False		,,,				2504	0.001					ENST00000306735.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(481-483)gcG>gcA		ribosome binding factor A (putative)		G	,	1,4405	2.1+/-5.4	0,1,2202	84	79	81		483,483	-7.8	0	18	dbSNP_134	81	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous,coding-synonymous	RBFA	NM_001171967.1,NM_024805.2	,	0,9,6494	AA,AG,GG		0.093,0.0227,0.0692	,	161/243,161/344	77798609	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	79863				rRNA processing	mitochondrion		g.chr18:77798609G>A	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 22"	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.483G>A	18.37:g.77798609G>A						RBFA_ENST00000262197.7_Silent_p.A161A|RBFADN_ENST00000569722.1_Intron	p.A161A	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN			4	621	+			161					Q6PF07|Q8WZ65|Q9H776	Silent	SNP	ENST00000306735.5	37	c.483G>A	CCDS12021.1																																																																																				0.498	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		6	22	0	0	0	1	0	6	22					A	77798609	G	A	77798609	2	1	435	1	0	0	0	0	0	0	0	1	1898	1074	38	1		1	C18orf22	18	77798609	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	139319	77798609	278639	7854	28779											
THEG	51298	broad.mit.edu	37	chr19	372675	372675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaatctcttgggccgagaCagttcctccacgcggcggga	8	8	13	12	4	1	2	0	0	1	2	4	4	3	3	3	3	0	1	3	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:372675C>T	ENST00000342640.4	-	5	633	c.591G>A	c.(589-591)ctG>ctA	p.L197L	THEG_ENST00000346878.2_Silent_p.L173L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	197					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCCGAGACAGTTCCTCCA	0.562																																						ENST00000342640.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(589-591)ctG>ctA		theg spermatid protein							143	120	128					19																	372675		2203	4300	6503	SO:0001819	synonymous_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:372675C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"cancer/testis antigen 56"	609503	"Theg homolog (mouse)"			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.591G>A	19.37:g.372675C>T						THEG_ENST00000346878.2_Silent_p.L173L	p.L197L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	633	-		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)	197					A6NMJ8	Silent	SNP	ENST00000342640.4	37	c.591G>A	CCDS12025.1																																																																																				0.562	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			7	53	0	0	0	1	0	7	53					T	372675	C	T	372675	2	4	435	1	0	0	0	0	0	0	0	1	15854	465	17	3		3	THEG	19	372675	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08		372675	58756308	7855	28780											
CDC34	997	broad.mit.edu	37	chr19	537014	537014	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacccactctccccacaggAccattctcctgagtgtgatc	8	9	7	17	1	2	2	0	2	2	0	5	4	2	3	5	1	0	0	5	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:537014A>G	ENST00000215574.4	+	4	582	c.364A>G	c.(364-366)Acc>Gcc	p.T122A		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	122					cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		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)		TCCCCACAGGACCATTCTCCT	0.647																																						ENST00000215574.4																			0				large_intestine(1)|lung(1)	2						c.e4-1		cell division cycle 34							115	92	100					19																	537014		2203	4300	6503	SO:0001630	splice_region_variant	997				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	g.chr19:537014A>G	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"Ubiquitin-conjugating enzymes E2"	1734	protein-coding gene	gene with protein product		116948	"cell division cycle 34", "cell division cycle 34 homolog (S. cerevisiae)"			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.363-1A>G	19.37:g.537014A>G							p.T122_splice	NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	582	+		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)	122					A8K689	Splice_Site	SNP	ENST00000215574.4	37	c.362_splice	CCDS12030.1	.	.	.	.	.	.	.	.	.	.	A	17.27	3.347607	0.61183	.	.	ENSG00000099804	ENST00000215574	T	0.38240	1.15	5.05	5.05	0.67936	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.54287	0.1849	L	0.59912	1.85	0.80722	D	1	D	0.60160	0.987	D	0.66602	0.945	T	0.58200	-0.7678	10	0.87932	D	0	-17.4462	13.9841	0.64324	1.0:0.0:0.0:0.0	.	122	P49427	UB2R1_HUMAN	A	122	ENSP00000215574:T122A	ENSP00000215574:T122A	T	+	1	0	CDC34	488014	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	9.134000	0.94467	1.894000	0.54839	0.482000	0.46254	ACC		0.647	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	NM_004359	Missense_Mutation	6	51	0	0	0	1	0	6	51					G	537014	A	G	537014	5	3	435	1	0	0	0	0	0	0	1	0	3067	289	10	4	378	4	CDC34	19	537014	Splice_Site	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	164339	537014	58591969	7856	28781											
HCN2	610	broad.mit.edu	37	chr19	603876	603876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtctacaagacggcacgcgCcctgcgcatcgtgcgcttca	7	7	12	15	6	2	1	1	0	1	1	3	1	2	1	1	2	3	3	1	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:603876C>T	ENST00000251287.2	+	2	1018	c.965C>T	c.(964-966)gCc>gTc	p.A322V		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	322					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGCACGCGCCCTGCGCATC	0.607																																					Melanoma(145;1175 2427 8056 36306)	ENST00000251287.2																			0				endometrium(5)|lung(4)	9						c.(964-966)gCc>gTc		hyperpolarization activated cyclic nucleotide-gated potassium channel 2							94	73	80					19																	603876		2201	4295	6496	SO:0001583	missense	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:603876C>T	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.965C>T	19.37:g.603876C>T	ENSP00000251287:p.Ala322Val						p.A322V	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1018	+		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)	322					O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	ENST00000251287.2	37	c.965C>T	CCDS12035.1	.	.	.	.	.	.	.	.	.	.	.	16.26	3.074311	0.55646	.	.	ENSG00000099822	ENST00000251287	D	0.97772	-4.53	2.78	1.68	0.24146	Ion transport (1);	.	.	.	.	D	0.95993	0.8695	L	0.49699	1.58	0.58432	D	0.999994	B	0.29188	0.236	B	0.37091	0.241	D	0.93781	0.7084	9	0.87932	D	0	.	10.7418	0.46158	0.0:0.8048:0.1952:0.0	.	322	Q9UL51	HCN2_HUMAN	V	322	ENSP00000251287:A322V	ENSP00000251287:A322V	A	+	2	0	HCN2	554876	1.000000	0.71417	0.995000	0.50966	0.598000	0.36846	7.425000	0.80255	0.501000	0.28013	0.187000	0.17357	GCC		0.607	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		5	28	0	0	0	1	0	5	28					T	603876	C	T	603876	3	4	435	1	0	0	0	0	1	0	0	0	6997	739	26	3	971	3	HCN2	19	603876	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	66862	603876	58525107	7857	28782											
POLRMT	5442	broad.mit.edu	37	chr19	621235	621235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaactccagcagggcccgCgccacgtcgctgcccaggtg	6	4	14	17	5	0	0	0	0	0	0	2	1	1	0	4	2	3	2	4	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:621235C>T	ENST00000588649.2	-	10	2547	c.2463G>A	c.(2461-2463)gcG>gcA	p.A821A	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	821	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)	p.A821A(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGGCCCGCGCCACGTCGC	0.697																																						ENST00000588649.2																			1	Substitution - coding silent(1)	p.A821A(1)	prostate(1)	cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(2461-2463)gcG>gcA		polymerase (RNA) mitochondrial (DNA directed)							11	15	14					19																	621235		2177	4245	6422	SO:0001819	synonymous_variant	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:621235C>T		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2463G>A	19.37:g.621235C>T							p.A821A	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	2547	-		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)	821			Mediates interaction with TEFM.		O60370	Silent	SNP	ENST00000588649.2	37	c.2463G>A	CCDS12036.1																																																																																				0.697	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		6	12	0	0	0	1	0	6	12					T	621235	C	T	621235	2	4	435	1	0	0	0	0	0	0	0	1	12238	755	27	1		1	POLRMT	19	621235	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17359	621235	58507748	7858	28783											
POLRMT	5442	broad.mit.edu	37	chr19	623584	623584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaagggcaggtgcagcttcGggtaggacacacgcccatcc	9	6	13	13	2	1	0	1	0	0	0	3	1	2	1	2	4	2	4	2	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:623584G>A	ENST00000588649.2	-	6	1244	c.1160C>T	c.(1159-1161)cCg>cTg	p.P387L	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	387					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCAGCTTCGGGTAGGACAC	0.647																																						ENST00000588649.2																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(1159-1161)cCg>cTg		polymerase (RNA) mitochondrial (DNA directed)							50	47	48					19																	623584		2202	4300	6502	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:623584G>A		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1160C>T	19.37:g.623584G>A	ENSP00000465759:p.Pro387Leu					LLNLR-299G3.1_ENST00000607288.1_RNA	p.P387L	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1244	-		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)	387					O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.1160C>T	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	15.08	2.727592	0.48833	.	.	ENSG00000099821	ENST00000215591	T	0.38887	1.11	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.54775	0.1879	M	0.77103	2.36	0.80722	D	1	D	0.60160	0.987	P	0.50405	0.64	T	0.63875	-0.6538	10	0.72032	D	0.01	-48.1247	14.9891	0.71371	0.0:0.0:1.0:0.0	.	387	O00411	RPOM_HUMAN	L	387	ENSP00000215591:P387L	ENSP00000215591:P387L	P	-	2	0	POLRMT	574584	1.000000	0.71417	0.992000	0.48379	0.109000	0.19521	4.423000	0.59861	2.276000	0.75962	0.561000	0.74099	CCG		0.647	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		9	13	0	0	0	1	0	9	13					A	623584	G	A	623584	3	1	435	1	0	0	0	0	1	0	0	0	12238	1116	39	2	2596	2	POLRMT	19	623584	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2349	623584	58505399	7859	28784											
FSTL3	10272	broad.mit.edu	37	chr19	681555	681555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcgccacgcgggcagctGcgcaggtgcagacgcagggc	6	3	18	14	6	0	1	0	0	0	1	0	1	0	1	1	3	4	5	1	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:681555G>A	ENST00000166139.4	+	4	760	c.728G>A	c.(727-729)tGc>tAc	p.C243Y	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	243	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				adrenal gland development (GO:0030325)|cellular response to metal ion (GO:0071248)|hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)|ossification (GO:0001503)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|secretory granule (GO:0030141)	activin binding (GO:0048185)|fibronectin binding (GO:0001968)						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)		GCGGGCAGCTGCGCAGGTGCA	0.687			T	CCND1	B-CLL																																	ENST00000166139.4				Dom	yes		19	19p13	10272	T	follistatin-like 3 (secreted glycoprotein)			L	CCND1		B-CLL		0											c.(727-729)tGc>tAc		follistatin-like 3 (secreted glycoprotein)							20	19	19					19																	681555		2195	4294	6489	SO:0001583	missense	10272				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	g.chr19:681555G>A	U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404			3973	protein-coding gene	gene with protein product	"follistatin-related protein"	605343				9671416, 15527507	Standard	NM_005860		Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.728G>A	19.37:g.681555G>A	ENSP00000166139:p.Cys243Tyr					FSTL3_ENST00000592947.1_3'UTR	p.C243Y	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	760	+		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)	243			Kazal-like 2.		A8K7E3	Missense_Mutation	SNP	ENST00000166139.4	37	c.728G>A	CCDS12040.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023930	0.54683	.	.	ENSG00000070404	ENST00000166139	D	0.96913	-4.17	3.88	3.88	0.44766	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.106981	0.64402	D	0.000003	D	0.98754	0.9581	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99331	1.0909	10	0.87932	D	0	-17.7064	14.5679	0.68191	0.0:0.0:1.0:0.0	.	243	O95633	FSTL3_HUMAN	Y	243	ENSP00000166139:C243Y	ENSP00000166139:C243Y	C	+	2	0	FSTL3	632555	1.000000	0.71417	0.997000	0.53966	0.066000	0.16364	8.922000	0.92789	2.011000	0.59026	0.462000	0.41574	TGC		0.687	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452479.1	NM_005860		5	17	0	0	0	1	0	5	17					A	681555	G	A	681555	3	1	435	1	0	0	0	0	1	0	0	0	6078	1319	46	3	742	3	FSTL3	19	681555	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	57971	681555	58447428	7860	28785											
PTBP1	5725	broad.mit.edu	37	chr19	804602	804602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttggctgcctcggcggCggccgtggacgcagggatgg	3	6	20	12	5	0	0	0	0	0	0	1	2	0	2	3	8	1	2	3	8	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:804602C>T	ENST00000349038.4	+	6	579	c.506C>T	c.(505-507)gCg>gTg	p.A169V	PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.A169V|PTBP1_ENST00000356948.6_Missense_Mutation_p.A169V|MIR4745_ENST00000577608.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	169					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCGGCGGCGGCCGTGGAC	0.701																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(505-507)gCg>gTg		polypyrimidine tract binding protein 1							33	36	35					19																	804602		2197	4283	6480	SO:0001583	missense	5725				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	g.chr19:804602C>T	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.506C>T	19.37:g.804602C>T	ENSP00000014112:p.Ala169Val					PTBP1_ENST00000394601.4_Missense_Mutation_p.A169V|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Missense_Mutation_p.A169V	p.A169V	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	929	+		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)	169					Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.506C>T	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241399	0.22711	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.46819	0.86;0.86;1.13	4.81	4.81	0.61882	.	0.113109	0.64402	D	0.000016	T	0.40297	0.1111	L	0.33485	1.01	0.80722	D	1	B;B;B	0.24675	0.109;0.091;0.055	B;B;B	0.20577	0.03;0.021;0.016	T	0.36040	-0.9764	10	0.66056	D	0.02	-26.7713	16.9057	0.86127	0.0:1.0:0.0:0.0	.	169;169;169	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	V	169	ENSP00000349428:A169V;ENSP00000408096:A169V;ENSP00000014112:A169V	ENSP00000014112:A169V	A	+	2	0	PTBP1	755602	0.998000	0.40836	0.042000	0.18584	0.008000	0.06430	4.192000	0.58378	2.223000	0.72356	0.655000	0.94253	GCG		0.701	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			17	23	0	0	0	1	0	17	23					T	804602	C	T	804602	3	4	435	1	0	0	0	0	1	0	0	0	12725	768	27	1	528	1	PTBP1	19	804602	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	123047	804602	58324381	7861	28786											
PTBP1	5725	broad.mit.edu	37	chr19	804675	804675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcgtggagaacctcttctaCcctgtgaccctggatgtgct	7	12	10	12	1	2	2	0	1	2	1	3	4	2	3	3	2	3	1	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:804675C>T	ENST00000349038.4	+	6	652	c.579C>T	c.(577-579)taC>taT	p.Y193Y	PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Silent_p.Y193Y|PTBP1_ENST00000356948.6_Silent_p.Y193Y|MIR4745_ENST00000577608.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	193	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTCTTCTACCCTGTGACCC	0.677																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(577-579)taC>taT		polypyrimidine tract binding protein 1							67	64	65					19																	804675		2203	4300	6503	SO:0001819	synonymous_variant	5725				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	g.chr19:804675C>T	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.579C>T	19.37:g.804675C>T						PTBP1_ENST00000394601.4_Silent_p.Y193Y|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Silent_p.Y193Y	p.Y193Y	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1002	+		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)	193			RRM 2.		Q9BUQ0	Silent	SNP	ENST00000349038.4	37	c.579C>T	CCDS32859.1																																																																																				0.677	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			4	42	0	0	0	1	0	4	42					T	804675	C	T	804675	2	4	435	1	0	0	0	0	0	0	0	1	12725	518	18	3		3	PTBP1	19	804675	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	73	804675	58324308	7862	28787											
PTBP1	5725	broad.mit.edu	37	chr19	805040	805040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggcagaacatctacaacGcctgctgcacgctgcgcatc	10	6	10	15	4	1	1	0	0	1	1	2	1	1	1	1	1	6	5	1	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:805040G>A	ENST00000349038.4	+	8	818	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.A249T|PTBP1_ENST00000356948.6_Missense_Mutation_p.A249T|MIR4745_ENST00000577608.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	249	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCTACAACGCCTGCTGCAC	0.642																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(745-747)Gcc>Acc		polypyrimidine tract binding protein 1							126	104	112					19																	805040		2203	4300	6503	SO:0001583	missense	5725				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	g.chr19:805040G>A	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.745G>A	19.37:g.805040G>A	ENSP00000014112:p.Ala249Thr					PTBP1_ENST00000394601.4_Missense_Mutation_p.A249T|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Missense_Mutation_p.A249T	p.A249T	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1168	+		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)	249			RRM 2.		Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.745G>A	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439942	0.63067	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.43688	0.94;0.94;1.23	4.81	4.81	0.61882	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.170380	0.51477	N	0.000092	T	0.33352	0.0860	N	0.24115	0.695	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.15484	0.012;0.011;0.013	T	0.15838	-1.0423	10	0.72032	D	0.01	-28.8682	16.8913	0.86088	0.0:0.0:1.0:0.0	.	249;249;249	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	T	249	ENSP00000349428:A249T;ENSP00000408096:A249T;ENSP00000014112:A249T	ENSP00000014112:A249T	A	+	1	0	PTBP1	756040	1.000000	0.71417	0.964000	0.40570	0.977000	0.68977	7.778000	0.85637	2.222000	0.72286	0.563000	0.77884	GCC		0.642	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			42	51	0	0	0	1	0	42	51					A	805040	G	A	805040	3	1	435	1	0	0	0	0	1	0	0	0	12725	1087	38	1	775	1	PTBP1	19	805040	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	365	805040	58323943	7863	28788											
LPPR3	79948	broad.mit.edu	37	chr19	814746	814746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgctgggacgggaaggtCttcctgtaagaggcgtccag	7	8	17	9	3	1	1	0	0	1	1	3	3	3	3	2	4	1	2	2	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:814746C>A	ENST00000520876.3	-	6	681	c.603G>T	c.(601-603)aaG>aaT	p.K201N	MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_Missense_Mutation_p.K201N	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		201						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										ACGGGAAGGTCTTCCTGTAAG	0.672																																						ENST00000359894.2																			0											c.(601-603)aaG>aaT									41	33	36					19																	814746		2187	4296	6483	SO:0001583	missense	0					integral to membrane	phosphatidate phosphatase activity	g.chr19:814746C>A																												ENST00000520876.3:c.603G>T	19.37:g.814746C>A	ENSP00000430297:p.Lys201Asn					LPPR3_ENST00000520876.3_Missense_Mutation_p.K201N	p.K201N	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN			6	666	-			201					Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	ENST00000520876.3	37	c.603G>T	CCDS58636.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.084937|4.084937	0.76642|0.76642	.|.	.|.	ENSG00000129951|ENSG00000129951	ENST00000517665;ENST00000521445|ENST00000300947;ENST00000359894;ENST00000520876	.|T;T	.|0.47177	.|0.85;0.85	4.77|4.77	3.73|3.73	0.42828|0.42828	.|Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63931|0.63931	0.2553|0.2553	M|M	0.72576|0.72576	2.205|2.205	0.38885|0.38885	D|D	0.956998|0.956998	.|D;D;D	.|0.67145	.|0.995;0.996;0.993	.|D;D;P	.|0.70716	.|0.949;0.97;0.892	T|T	0.68420|0.68420	-0.5413|-0.5413	5|10	.|0.87932	.|D	.|0	-24.8006|-24.8006	10.3457|10.3457	0.43906|0.43906	0.0:0.907:0.0:0.093|0.0:0.907:0.0:0.093	.|.	.|202;201;201	.|Q6T4P5-2;Q6T4P5;Q6T4P5-3	.|.;LPPR3_HUMAN;.	Y|N	2;151|202;201;201	.|ENSP00000352962:K201N;ENSP00000430297:K201N	.|ENSP00000300947:K202N	D|K	-|-	1|3	0|2	AC006273.1|AC006273.1	765746|765746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	1.357000|1.357000	0.34090|0.34090	1.001000|1.001000	0.39076|0.39076	0.555000|0.555000	0.69702|0.69702	GAC|AAG		0.672	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			4	12	1	0	0.014758	1	0.0148771	4	12					A	814746	C	A	814746	3	1	435	1	0	0	0	0	1	0	0	0	8926	912	32	5	1645	5	LPPR3	19	814746	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9706	814746	58314237	7864	28789											
AZU1	566	broad.mit.edu	37	chr19	828253	828253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcccccttttggacatcGttggcggccggaaggcgagg	6	7	15	13	4	0	0	0	0	0	0	1	3	0	2	4	6	1	1	4	6	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:828253G>A	ENST00000233997.2	+	2	103	c.82G>A	c.(82-84)Gtt>Att	p.V28I		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	28	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		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)		TTTGGACATCGTTGGCGGCCG	0.652																																						ENST00000233997.2																			0				NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10						c.(82-84)Gtt>Att		azurocidin 1							48	59	55					19																	828253		2200	4296	6496	SO:0001583	missense	566				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	g.chr19:828253G>A	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"cationic antimicrobial protein 37", "heparin-binding protein", "neutrophil azurocidin"	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.82G>A	19.37:g.828253G>A	ENSP00000233997:p.Val28Ile						p.V28I	NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	103	+		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)	28			Peptidase S1.		P80014|Q52LG4|Q9UCM1|Q9UCT5	Missense_Mutation	SNP	ENST00000233997.2	37	c.82G>A	CCDS12044.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448487	0.43429	.	.	ENSG00000172232	ENST00000334630;ENST00000233997	D	0.93906	-3.31	2.1	1.0	0.19881	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.91908	0.7438	L	0.31845	0.965	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.82176	-0.0587	9	0.13108	T	0.6	.	4.7706	0.13153	0.1995:0.0:0.8005:0.0	.	28	P20160	CAP7_HUMAN	I	42;28	ENSP00000233997:V28I	ENSP00000233997:V28I	V	+	1	0	AZU1	779253	0.546000	0.26457	0.036000	0.18154	0.021000	0.10359	0.343000	0.19944	0.207000	0.20607	0.511000	0.50034	GTT		0.652	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	NM_001700		26	45	0	0	0	1	0	26	45					A	828253	G	A	828253	3	1	435	1	0	0	0	0	1	0	0	0	1243	1145	40	1	88	1	AZU1	19	828253	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13507	828253	58300730	7865	28790											
ELANE	1991	broad.mit.edu	37	chr19	852991	852991	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcgccaccctgattgcGcccaacttcgtcatgtcggc	5	9	11	16	5	1	1	1	1	0	0	3	1	1	1	3	2	3	0	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:852991G>A	ENST00000590230.1	+	3	324	c.183G>A	c.(181-183)gcG>gcA	p.A61A	ELANE_ENST00000263621.1_Silent_p.A61A			P08246	ELNE_HUMAN	elastase, neutrophil expressed	61	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		A -> V (in SCN1 and CH). {ECO:0000269|PubMed:10581030, ECO:0000269|PubMed:23463630}.|IA -> R. {ECO:0000269|PubMed:23463630}.		acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCCTGATTGCGCCCAACTTCG	0.716																																						ENST00000590230.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13						c.(181-183)gcG>gcA		elastase, neutrophil expressed	Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)						6	7	6					19																	852991		2128	4147	6275	SO:0001819	synonymous_variant	1991				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	g.chr19:852991G>A		CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"neutrophil elastase", "leukocyte elastase", "medullasin"	130130	"elastase 2, neutrophil"	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.183G>A	19.37:g.852991G>A						ELANE_ENST00000263621.1_Silent_p.A61A	p.A61A			P08246	ELNE_HUMAN			3	324	+			61			Peptidase S1.		P09649|Q6B0D9|Q6LDP5	Silent	SNP	ENST00000590230.1	37	c.183G>A	CCDS12045.1																																																																																				0.716	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457890.2	NM_001972		3	6	0	0	0	1	0	3	6					A	852991	G	A	852991	2	1	435	1	0	0	0	0	0	0	0	1	5048	1074	38	1		1	ELANE	19	852991	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24738	852991	58275992	7866	28791											
WDR18	57418	broad.mit.edu	37	chr19	989795	989795	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttctggtcatcctgagtCgacactaccaggacgtctcc	8	10	8	15	2	3	1	1	1	2	0	6	3	4	2	4	2	1	0	4	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:989795C>T	ENST00000251289.5	+	3	378	c.355C>T	c.(355-357)Cga>Tga	p.R119*	WDR18_ENST00000591997.1_3'UTR|WDR18_ENST00000587001.2_Nonsense_Mutation_p.R119*	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	119					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		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)		CATCCTGAGTCGACACTACCA	0.622																																						ENST00000251289.5																			0				endometrium(1)|kidney(2)|lung(2)|skin(2)	7						c.(355-357)Cga>Tga		WD repeat domain 18							93	85	88					19																	989795		2202	4300	6502	SO:0001587	stop_gained	57418							g.chr19:989795C>T		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.355C>T	19.37:g.989795C>T	ENSP00000251289:p.Arg119*					WDR18_ENST00000591997.1_3'UTR|WDR18_ENST00000587001.2_Nonsense_Mutation_p.R119*	p.R119*	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	378	+		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)	119					O60390|Q9BWR2	Nonsense_Mutation	SNP	ENST00000251289.5	37	c.355C>T	CCDS12051.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168545	0.57584	.	.	ENSG00000065268	ENST00000251289	.	.	.	4.03	4.03	0.46877	.	0.119681	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	10.7028	0.45937	0.1908:0.8092:0.0:0.0	.	.	.	.	X	119	.	ENSP00000251289:R119X	R	+	1	2	WDR18	940795	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	4.836000	0.62789	2.087000	0.62958	0.563000	0.77884	CGA		0.622	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			33	45	0	0	0	1	0	33	45					T	989795	C	T	989795	4	4	435	1	0	0	0	0	0	1	0	0	17275	876	31	2	365	2	WDR18	19	989795	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	136804	989795	58139188	7867	28792											
WDR18	57418	broad.mit.edu	37	chr19	990902	990902	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccgtcctctttgacgtGtccatcatggcagtgaccat	6	13	8	14	2	3	2	1	2	2	0	6	2	5	2	4	1	0	1	4	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:990902G>A	ENST00000251289.5	+	5	671	c.648G>A	c.(646-648)gtG>gtA	p.V216V	WDR18_ENST00000587001.2_Silent_p.V216V	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	216					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		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)		TCTTTGACGTGTCCATCATGG	0.647																																						ENST00000251289.5																			0				endometrium(1)|kidney(2)|lung(2)|skin(2)	7						c.(646-648)gtG>gtA		WD repeat domain 18							70	66	67					19																	990902		2202	4298	6500	SO:0001819	synonymous_variant	57418							g.chr19:990902G>A		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.648G>A	19.37:g.990902G>A						WDR18_ENST00000587001.2_Silent_p.V216V	p.V216V	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	671	+		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)	216					O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	37	c.648G>A	CCDS12051.1																																																																																				0.647	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			6	18	0	0	0	1	0	6	18					A	990902	G	A	990902	2	1	435	1	0	0	0	0	0	0	0	1	17275	1364	48	3		3	WDR18	19	990902	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1107	990902	58138081	7868	28793											
ABCA7	10347	broad.mit.edu	37	chr19	1042344	1042344	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaccaagcagtctccacTggaaccacccatgctggatg	12	6	8	15	0	1	0	0	0	1	0	2	2	1	2	5	2	4	2	5	2	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1042344T>C	ENST00000263094.6	+	6	677	c.446T>C	c.(445-447)cTg>cCg	p.L149P	ABCA7_ENST00000435683.2_5'Flank|ABCA7_ENST00000433129.1_Missense_Mutation_p.L149P	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	149					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			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)		CAGTCTCCACTGGAACCACCC	0.677																																						ENST00000263094.6																			0				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						c.(445-447)cTg>cCg		ATP-binding cassette, sub-family A (ABC1), member 7							77	73	75					19																	1042344		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1042344T>C	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.446T>C	19.37:g.1042344T>C	ENSP00000263094:p.Leu149Pro					ABCA7_ENST00000433129.1_Missense_Mutation_p.L149P	p.L149P	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	677	+		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)	149					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.446T>C	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	T	5.483	0.274171	0.10403	.	.	ENSG00000064687	ENST00000263094;ENST00000524850;ENST00000433129	D;D;D	0.98747	-2.19;-5.11;-2.19	3.03	-0.68	0.11346	.	.	.	.	.	D	0.91643	0.7359	N	0.08118	0	0.09310	N	1	P;B	0.35982	0.531;0.261	B;B	0.28709	0.093;0.047	D	0.89084	0.3478	9	0.30078	T	0.28	.	0.5832	0.00715	0.4564:0.2044:0.1295:0.2097	.	149;149	B4DVJ5;Q8IZY2	.;ABCA7_HUMAN	P	149	ENSP00000263094:L149P;ENSP00000431473:L149P;ENSP00000414062:L149P	ENSP00000263094:L149P	L	+	2	0	ABCA7	993344	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.477000	0.06583	-0.234000	0.09782	-0.651000	0.03910	CTG		0.677	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		9	50	0	0	0	1	0	9	50					C	1042344	T	C	1042344	3	2	435	1	0	0	0	0	1	0	0	0	37	1580	55	4	464	4	ABCA7	19	1042344	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	51442	1042344	58086639	7869	28794											
ABCA7	10347	broad.mit.edu	37	chr19	1046292	1046292	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctacgtgtggggcggcttCgtgtacctgcaagacctggt	5	10	15	11	4	0	1	0	0	0	1	1	1	0	1	2	4	3	4	2	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1046292C>T	ENST00000263094.6	+	13	1740	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Silent_p.F365F|ABCA7_ENST00000433129.1_Silent_p.F503F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	503					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			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)		GGGGCGGCTTCGTGTACCTGC	0.697																																						ENST00000263094.6																			0				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						c.(1507-1509)ttC>ttT		ATP-binding cassette, sub-family A (ABC1), member 7							123	130	128					19																	1046292		2203	4298	6501	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1046292C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1509C>T	19.37:g.1046292C>T						ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Silent_p.F365F|ABCA7_ENST00000433129.1_Silent_p.F503F	p.F503F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1740	+		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)	503					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.1509C>T	CCDS12055.1																																																																																				0.697	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		84	128	0	0	0	1	0	84	128					T	1046292	C	T	1046292	2	4	435	1	0	0	0	0	0	0	0	1	37	883	31	2		2	ABCA7	19	1046292	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3948	1046292	58082691	7870	28795											
ABCA7	10347	broad.mit.edu	37	chr19	1057328	1057328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcagtgtaactacttggtgCcagcatgcatcgtggtgctc	7	12	12	10	1	0	0	0	0	0	0	2	0	0	0	1	2	7	5	1	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1057328C>T	ENST00000263094.6	+	35	5011	c.4780C>T	c.(4780-4782)Cca>Tca	p.P1594S	ABCA7_ENST00000435683.2_Missense_Mutation_p.P1456S|ABCA7_ENST00000433129.1_Missense_Mutation_p.P1594S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1594					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			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)		CTACTTGGTGCCAGCATGCAT	0.557																																						ENST00000263094.6																			0				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						c.(4780-4782)Cca>Tca		ATP-binding cassette, sub-family A (ABC1), member 7							247	202	217					19																	1057328		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1057328C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4780C>T	19.37:g.1057328C>T	ENSP00000263094:p.Pro1594Ser					ABCA7_ENST00000435683.2_Missense_Mutation_p.P1456S|ABCA7_ENST00000433129.1_Missense_Mutation_p.P1594S	p.P1594S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	35	5011	+		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)	1594					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.4780C>T	CCDS12055.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.30|10.30	1.311483|1.311483	0.23821|0.23821	.|.	.|.	ENSG00000064687|ENSG00000064687	ENST00000525073|ENST00000263094;ENST00000433129	.|D;D	.|0.87650	.|-2.28;-2.28	3.65|3.65	-7.3|-7.3	0.01446|0.01446	.|.	.|.	.|.	.|.	.|.	T|T	0.74696|0.74696	0.3750|0.3750	L|L	0.39692|0.39692	1.235|1.235	0.27406|0.27406	N|N	0.954722|0.954722	.|B;B	.|0.19935	.|0.02;0.04	.|B;B	.|0.31101	.|0.124;0.086	T|T	0.62210|0.62210	-0.6902|-0.6902	5|9	.|0.13108	.|T	.|0.6	.|.	1.6483|1.6483	0.02766|0.02766	0.1185:0.3802:0.162:0.3392|0.1185:0.3802:0.162:0.3392	.|.	.|719;1594	.|D6W5Y0;Q8IZY2	.|.;ABCA7_HUMAN	V|S	43|1594	.|ENSP00000263094:P1594S;ENSP00000414062:P1594S	.|ENSP00000263094:P1594S	A|P	+|+	2|1	0|0	ABCA7|ABCA7	1008328|1008328	0.016000|0.016000	0.18221|0.18221	0.017000|0.017000	0.16124|0.16124	0.894000|0.894000	0.52154|0.52154	0.209000|0.209000	0.17435|0.17435	-1.545000|-1.545000	0.01719|0.01719	-0.424000|-0.424000	0.05967|0.05967	GCC|CCA		0.557	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		59	98	0	0	0	1	0	59	98					T	1057328	C	T	1057328	3	4	435	1	0	0	0	0	1	0	0	0	37	739	26	3	4914	3	ABCA7	19	1057328	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11036	1057328	58071655	7871	28796											
HMHA1	23526	broad.mit.edu	37	chr19	1074184	1074184	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcactgctgtatgccaagaAcatggccaagtacatgaagg	13	7	11	10	1	0	2	0	1	0	1	0	2	0	2	2	2	4	4	2	2	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1074184A>G	ENST00000313093.2	+	7	1103	c.872A>G	c.(871-873)aAc>aGc	p.N291S	HMHA1_ENST00000590214.1_Missense_Mutation_p.N318S|HMHA1_ENST00000586866.1_Missense_Mutation_p.N295S|HMHA1_ENST00000536472.1_Missense_Mutation_p.N131S|HMHA1_ENST00000539243.2_Missense_Mutation_p.N307S|HMHA1_ENST00000543365.1_Missense_Mutation_p.N174S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	291					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			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)		TATGCCAAGAACATGGCCAAG	0.652																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(871-873)aAc>aGc		histocompatibility (minor) HA-1							74	62	66					19																	1074184		2203	4300	6503	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1074184A>G	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.872A>G	19.37:g.1074184A>G	ENSP00000316772:p.Asn291Ser					HMHA1_ENST00000590214.1_Missense_Mutation_p.N318S|HMHA1_ENST00000536472.1_Missense_Mutation_p.N131S|HMHA1_ENST00000539243.2_Missense_Mutation_p.N307S|HMHA1_ENST00000543365.1_Missense_Mutation_p.N174S|HMHA1_ENST00000586866.1_Missense_Mutation_p.N295S	p.N291S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1103	+		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)	291					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.872A>G	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	A	5.617	0.298591	0.10622	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.3	1.01	0.19927	Fps/Fes/Fer/CIP4 homology (1);	0.343008	0.29106	N	0.013129	T	0.26991	0.0661	L	0.46157	1.445	0.27689	N	0.94618	B;B;B;B	0.26744	0.158;0.023;0.079;0.007	B;B;B;B	0.20184	0.028;0.027;0.018;0.008	T	0.30060	-0.9991	10	0.08381	T	0.77	-22.2704	7.3824	0.26864	0.721:0.0:0.279:0.0	.	131;307;174;291	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	S	307;291;291;131;285;174	ENSP00000439601:N307S;ENSP00000316772:N291S;ENSP00000445109:N131S;ENSP00000438979:N174S	ENSP00000316772:N291S	N	+	2	0	HMHA1	1025184	1.000000	0.71417	0.993000	0.49108	0.851000	0.48451	0.945000	0.29056	-0.159000	0.11021	0.402000	0.26972	AAC		0.652	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			30	22	0	0	0	1	0	30	22					G	1074184	A	G	1074184	3	3	435	1	0	0	0	0	1	0	0	0	7240	43	2	4	898	4	HMHA1	19	1074184	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	16856	1074184	58054799	7872	28797											
STK11	6794	broad.mit.edu	37	chr19	1226491	1226491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccagtcacaatggacagCgccggggcctccccaaggcc	9	3	13	16	2	1	0	1	0	0	0	2	1	2	1	6	5	1	0	6	5	2	0	rs535449626		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1226491C>T	ENST00000326873.7	+	9	2320	c.1147C>T	c.(1147-1149)Cgc>Tgc	p.R383C		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	383					activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAATGGACAGCGCCGGGGCCT	0.687		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			C|||	1	0.000199681	8e-04	0	5008	,	,		14776	0		0	False		,,,				2504	0					ENST00000326873.7		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	"D, Mis, N, F, S"	serine/threonine kinase 11 gene (LKB1)			"E, M, O"		"jejunal harmartoma, ovarian, testicular, pancreatic"	"NSCLC, pancreatic"		21	Whole gene deletion(20)|Unknown(1)	p.0?(20)|p.?(1)	cervix(14)|lung(2)|oesophagus(1)|breast(1)|ovary(1)|kidney(1)|pancreas(1)	biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328						c.(1147-1149)Cgc>Tgc		serine/threonine kinase 11							15	19	18					19																	1226491		2005	4143	6148	SO:0001583	missense	6794	Peutz-Jeghers syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	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	g.chr19:1226491C>T	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.1147C>T	19.37:g.1226491C>T	ENSP00000324856:p.Arg383Cys	TSP Lung(3;<1E-08)					p.R383C	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian 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)	9	2320	+		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)	383					B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	37	c.1147C>T	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	.	12.84	2.057329	0.36277	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	T	0.69306	-0.39	4.32	3.31	0.37934	.	0.373473	0.32655	N	0.005804	T	0.42200	0.1192	N	0.08118	0	0.28176	N	0.928378	B	0.32893	0.389	B	0.27796	0.083	T	0.37150	-0.9718	10	0.46703	T	0.11	-32.5559	10.4319	0.44413	0.8351:0.1649:0.0:0.0	.	383	Q15831	STK11_HUMAN	C	383	ENSP00000324856:R383C	ENSP00000324856:R383C	R	+	1	0	STK11	1177491	0.995000	0.38212	0.989000	0.46669	0.621000	0.37620	2.998000	0.49465	0.811000	0.34303	-0.376000	0.06991	CGC		0.687	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		5	14	0	0	0	1	0	5	14					T	1226491	C	T	1226491	3	4	435	1	0	0	0	0	1	0	0	0	15286	768	27	1	1181	1	STK11	19	1226491	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	152307	1226491	57902492	7873	28798											
EFNA2	1943	broad.mit.edu	37	chr19	1295701	1295701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaacggcgagggccacGcctcctgcgaccaccgccag	7	4	13	17	5	1	0	1	0	0	0	2	2	2	0	6	3	2	0	6	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1295701G>A	ENST00000215368.2	+	2	313	c.298G>A	c.(298-300)Gcc>Acc	p.A100T	MUM1_ENST00000344663.3_Intron	NM_001405.3	NP_001396.2	O43921	EFNA2_HUMAN	ephrin-A2	100	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|bone remodeling (GO:0046849)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|olfactory bulb development (GO:0021772)|osteoclast differentiation (GO:0030316)	anchored component of membrane (GO:0031225)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			lung(2)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGGGCCACGCCTCCTGCGA	0.687																																						ENST00000215368.2																			0				lung(2)	2						c.(298-300)Gcc>Acc		ephrin-A2							17	16	16					19																	1295701		2197	4294	6491	SO:0001583	missense	1943				cell-cell signaling	anchored to membrane|plasma membrane	ephrin receptor binding	g.chr19:1295701G>A		CCDS12061.1	19p13	2011-03-09			ENSG00000099617	ENSG00000099617		"Ephrins"	3222	protein-coding gene	gene with protein product		602756		EPLG6			Standard	NM_001405		Approved	ELF-1, LERK6	uc002lry.2	O43921		ENST00000215368.2:c.298G>A	19.37:g.1295701G>A	ENSP00000215368:p.Ala100Thr					MUM1_ENST00000344663.3_Intron	p.A100T	NM_001405.3	NP_001396.2	O43921	EFNA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	313	+		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)	100					O76020	Missense_Mutation	SNP	ENST00000215368.2	37	c.298G>A	CCDS12061.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238825	0.39598	.	.	ENSG00000099617	ENST00000215368	T	0.41758	0.99	3.82	2.66	0.31614	Cupredoxin (2);	0.369443	0.27031	U	0.021274	T	0.28863	0.0716	L	0.28458	0.855	0.37903	D	0.931126	B	0.27679	0.185	B	0.24155	0.051	T	0.30060	-0.9991	10	0.44086	T	0.13	.	10.9691	0.47428	0.0:0.0:0.8124:0.1876	.	100	O43921	EFNA2_HUMAN	T	100	ENSP00000215368:A100T	ENSP00000215368:A100T	A	+	1	0	EFNA2	1246701	0.964000	0.33143	1.000000	0.80357	0.997000	0.91878	2.205000	0.42770	1.836000	0.53414	0.478000	0.44815	GCC		0.687	EFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450016.1	NM_001405		8	14	0	0	0	1	0	8	14					A	1295701	G	A	1295701	3	1	435	1	0	0	0	0	1	0	0	0	4951	1087	38	1	304	1	EFNA2	19	1295701	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	69210	1295701	57833282	7874	28799											
APC2	10297	broad.mit.edu	37	chr19	1461079	1461079	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcctggagggccgacaTcaacagcaagaaggtgctga	11	7	13	10	1	1	2	1	1	0	1	2	4	2	3	2	3	3	2	2	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1461079T>C	ENST00000535453.1	+	12	3278	c.1565T>C	c.(1564-1566)aTc>aCc	p.I522T	APC2_ENST00000238483.4_Missense_Mutation_p.I248T|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Missense_Mutation_p.I522T			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGCCGACATCAACAGCAAG	0.672																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(1564-1566)aTc>aCc		adenomatosis polyposis coli 2							108	101	104					19																	1461079		2203	4300	6503	SO:0001583	missense	10297				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	g.chr19:1461079T>C		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1565T>C	19.37:g.1461079T>C	ENSP00000442954:p.Ile522Thr					CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Missense_Mutation_p.I522T|APC2_ENST00000238483.4_Missense_Mutation_p.I248T	p.I522T			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	3278	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	522					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.1565T>C	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971291	0.74246	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.63096	-0.02;0.84;-0.02	4.05	4.05	0.47172	Armadillo-like helical (1);Armadillo-type fold (1);	0.066088	0.64402	D	0.000012	T	0.61652	0.2364	N	0.25647	0.755	0.40617	D	0.981725	D;D	0.61697	0.99;0.983	P;P	0.57152	0.814;0.656	T	0.67169	-0.5738	10	0.72032	D	0.01	-25.5394	11.9673	0.53042	0.0:0.0:0.0:1.0	.	521;522	O95996-3;O95996	.;APC2_HUMAN	T	522;248;522	ENSP00000233607:I522T;ENSP00000238483:I248T;ENSP00000442954:I522T	ENSP00000233607:I522T	I	+	2	0	APC2	1412079	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.459000	0.60102	1.703000	0.51240	0.459000	0.35465	ATC		0.672	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		35	63	0	0	0	1	0	35	63					C	1461079	T	C	1461079	3	2	435	1	0	0	0	0	1	0	0	0	764	1435	50	4	1611	4	APC2	19	1461079	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	165378	1461079	57667904	7875	28800											
APC2	10297	broad.mit.edu	37	chr19	1462106	1462106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgtcagagcaactcgctgGccatcatcgagagcggcggc	9	6	14	12	4	2	2	2	0	0	2	4	3	2	2	1	3	3	2	1	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1462106G>A	ENST00000535453.1	+	13	3496	c.1783G>A	c.(1783-1785)Gcc>Acc	p.A595T	APC2_ENST00000238483.4_Missense_Mutation_p.A321T|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Missense_Mutation_p.A595T|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACTCGCTGGCCATCATCGA	0.657																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(1783-1785)Gcc>Acc		adenomatosis polyposis coli 2							59	48	52					19																	1462106		2203	4298	6501	SO:0001583	missense	10297				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	g.chr19:1462106G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1783G>A	19.37:g.1462106G>A	ENSP00000442954:p.Ala595Thr					CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Missense_Mutation_p.A595T|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.A321T	p.A595T			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	3496	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	595					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.1783G>A	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745325	0.89663	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.65178	-0.14;0.77;-0.14	4.58	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.65323	0.934;0.86	T	0.74896	-0.3508	10	0.72032	D	0.01	-28.0266	11.2528	0.49037	0.0:0.0:0.8169:0.1831	.	594;595	O95996-3;O95996	.;APC2_HUMAN	T	595;321;595	ENSP00000233607:A595T;ENSP00000238483:A321T;ENSP00000442954:A595T	ENSP00000233607:A595T	A	+	1	0	APC2	1413106	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.295000	0.78780	2.093000	0.63338	0.561000	0.74099	GCC		0.657	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		22	24	0	0	0	1	0	22	24					A	1462106	G	A	1462106	3	1	435	1	0	0	0	0	1	0	0	0	764	1203	42	3	1833	3	APC2	19	1462106	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1027	1462106	57666877	7876	28801											
APC2	10297	broad.mit.edu	37	chr19	1465595	1465595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccctgcgacacctggaCggcctggcccaagactatgc	7	5	11	18	3	0	1	0	0	0	1	0	3	0	2	6	3	2	0	6	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1465595C>T	ENST00000535453.1	+	14	4008	c.2295C>T	c.(2293-2295)gaC>gaT	p.D765D	APC2_ENST00000238483.4_Silent_p.D491D|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Silent_p.D765D|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACACCTGGACGGCCTGGCCC	0.716																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(2293-2295)gaC>gaT		adenomatosis polyposis coli 2							9	12	11					19																	1465595		2125	4244	6369	SO:0001819	synonymous_variant	10297				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	g.chr19:1465595C>T		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.2295C>T	19.37:g.1465595C>T						APC2_ENST00000233607.2_Silent_p.D765D|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Silent_p.D491D	p.D765D			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	4008	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	765					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.2295C>T	CCDS12068.1																																																																																				0.716	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		3	4	0	0	0	1	0	3	4					T	1465595	C	T	1465595	2	4	435	1	0	0	0	0	0	0	0	1	764	535	19	1		1	APC2	19	1465595	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3489	1465595	57663388	7877	28802											
MBD3	53615	broad.mit.edu	37	chr19	1584643	1584643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagatggacgccgtctggcGcacgggcagcgccgtgttca	7	6	16	12	6	2	1	1	0	1	1	2	3	2	2	2	3	1	3	2	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1584643G>A	ENST00000434436.3	-	3	433	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000590550.2_Missense_Mutation_p.R46C|AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000592012.1_Missense_Mutation_p.R70C|MBD3_ENST00000156825.1_Missense_Mutation_p.R102C|UQCR11_ENST00000585937.1_3'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	102					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			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)		GCCGTCTGGCGCACGGGCAGC	0.697																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(136-138)Cgc>Tgc		methyl-CpG binding domain protein 3							80	67	71					19																	1584643		2203	4300	6503	SO:0001583	missense	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1584643G>A	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.304C>T	19.37:g.1584643G>A	ENSP00000412302:p.Arg102Cys					MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000156825.1_Missense_Mutation_p.R102C|MBD3_ENST00000592012.1_Missense_Mutation_p.R70C|MBD3_ENST00000434436.3_Missense_Mutation_p.R102C	p.R46C			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian 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)	2	509	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	102			MBD.		A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP	ENST00000434436.3	37	c.136C>T	CCDS12072.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813899	0.70912	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.99656	-6.31	4.89	2.55	0.30701	.	0.053604	0.64402	D	0.000001	D	0.99573	0.9846	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.917;0.985	D	0.98583	1.0651	10	0.87932	D	0	-40.4741	11.2914	0.49252	0.0:0.0:0.3883:0.6117	.	70;102	O95983-2;O95983	.;MBD3_HUMAN	C	70;102	ENSP00000156825:R102C	ENSP00000156825:R102C	R	-	1	0	MBD3	1535643	0.956000	0.32656	1.000000	0.80357	0.978000	0.69477	0.931000	0.28871	0.916000	0.36871	0.462000	0.41574	CGC		0.697	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		10	20	0	0	0	1	0	10	20					A	1584643	G	A	1584643	3	1	435	1	0	0	0	0	1	0	0	0	9344	1087	38	1	587	1	MBD3	19	1584643	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	119048	1584643	57544340	7878	28803											
TCF3	6929	broad.mit.edu	37	chr19	1612209	1612209	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggccggggagcctacctcGcacctgctgctccagcccca	5	6	11	19	2	0	0	0	0	0	0	2	1	1	1	7	3	5	3	7	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1612209G>A	ENST00000344749.5	-	18	1876	c.1810C>T	c.(1810-1812)Cga>Tga	p.R604*	TCF3_ENST00000453954.2_Nonsense_Mutation_p.R519*|TCF3_ENST00000395423.3_Intron|TCF3_ENST00000588136.1_Nonsense_Mutation_p.R604*|TCF3_ENST00000262965.5_Intron	NM_001136139.2	NP_001129611.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			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)		AGCCTACCTCGCACCTGCTGC	0.672			T	"PBX1, HLF, TFPT"	pre B-ALL																																	ENST00000344749.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"PBX1, HLF, TFPT"		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1810-1812)Cga>Tga		transcription factor 3							34	31	32					19																	1612209		1567	3582	5149	SO:0001587	stop_gained	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1612209G>A	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000344749.5:c.1810C>T	19.37:g.1612209G>A	ENSP00000344375:p.Arg604*					TCF3_ENST00000262965.5_Intron|TCF3_ENST00000395423.3_Intron|TCF3_ENST00000588136.1_Nonsense_Mutation_p.R604*|TCF3_ENST00000453954.2_Nonsense_Mutation_p.R519*	p.R604*	NM_001136139.2	NP_001129611.1	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	1876	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	607			Helix-loop-helix motif.		Q53R97|Q6PD70|Q9NP00	Nonsense_Mutation	SNP	ENST00000344749.5	37	c.1810C>T	CCDS45899.1	.	.	.	.	.	.	.	.	.	.	G	39	7.348219	0.98228	.	.	ENSG00000071564	ENST00000344749;ENST00000453954	.	.	.	4.8	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3096	0.54922	0.0825:0.0:0.9175:0.0	.	.	.	.	X	604	.	ENSP00000344375:R604X	R	-	1	2	TCF3	1563209	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.587000	0.98229	1.148000	0.42385	0.561000	0.74099	CGA		0.672	TCF3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449375.1	NM_003200		8	8	0	0	0	1	0	8	8					A	1612209	G	A	1612209	4	1	435	1	0	0	0	0	0	1	0	0	15691	1095	38	1	153	1	TCF3	19	1612209	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27566	1612209	57516774	7879	28804											
TCF3	6929	broad.mit.edu	37	chr19	1615322	1615322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcaggatgaccgagacaGcctggtgcaggatgagcagt	11	7	15	8	1	1	3	1	2	0	1	1	6	1	5	2	3	3	3	2	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1615322G>A	ENST00000262965.5	-	18	2128	c.1784C>T	c.(1783-1785)gCt>gTt	p.A595V	TCF3_ENST00000453954.2_Intron|TCF3_ENST00000395423.3_Missense_Mutation_p.A599V|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000588136.1_Intron|RNU6-1223P_ENST00000517124.1_RNA	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			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)		GACCGAGACAGCCTGGTGCAG	0.632			T	"PBX1, HLF, TFPT"	pre B-ALL																																	ENST00000262965.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"PBX1, HLF, TFPT"		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1783-1785)gCt>gTt		transcription factor 3							74	73	73					19																	1615322		2203	4300	6503	SO:0001583	missense	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1615322G>A	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1784C>T	19.37:g.1615322G>A	ENSP00000262965:p.Ala595Val					TCF3_ENST00000395423.3_Missense_Mutation_p.A599V|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron	p.A595V	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2128	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	595			Helix-loop-helix motif.		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.1784C>T	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900835	0.92035	.	.	ENSG00000071564	ENST00000262965;ENST00000395423	D;D	0.99474	-5.97;-5.97	4.14	4.14	0.48551	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	M	0.92507	3.315	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	D	0.97709	1.0189	10	0.87932	D	0	-27.0814	15.3807	0.74654	0.0:0.0:1.0:0.0	.	595;599;532	P15923;Q2TB39;Q6PJU3	TFE2_HUMAN;.;.	V	595;599	ENSP00000262965:A595V;ENSP00000378813:A599V	ENSP00000262965:A595V	A	-	2	0	TCF3	1566322	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.479000	0.97929	1.841000	0.53522	0.555000	0.69702	GCT		0.632	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		14	47	0	0	0	1	0	14	47					A	1615322	G	A	1615322	3	1	435	1	0	0	0	0	1	0	0	0	15691	971	34	3	419	3	TCF3	19	1615322	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3113	1615322	57513661	7880	28805											
ATP8B3	148229	broad.mit.edu	37	chr19	1797000	1797000	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtcgtggcctctgaatcCggccctggggaaagacacag	8	6	15	12	3	1	2	0	1	1	1	3	3	2	3	3	5	0	0	3	5	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1797000C>T	ENST00000310127.6	-	15	1795	c.1557G>A	c.(1555-1557)ccG>ccA	p.P519P	ATP8B3_ENST00000539485.1_Silent_p.P519P|ATP8B3_ENST00000525591.1_Silent_p.P472P	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	519					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCTGAATCCGGCCCTGGGG	0.692																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(1555-1557)ccG>ccA		ATPase, aminophospholipid transporter, class I, type 8B, member 3							38	45	42					19																	1797000		1982	4155	6137	SO:0001819	synonymous_variant	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1797000C>T	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1557G>A	19.37:g.1797000C>T						ATP8B3_ENST00000310127.6_Silent_p.P519P|ATP8B3_ENST00000525591.1_Silent_p.P472P	p.P519P			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	1790	-		Hepatocellular(1079;0.137)	519					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	c.1557G>A	CCDS45901.1																																																																																				0.692	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		13	16	0	0	0	1	0	13	16					T	1797000	C	T	1797000	2	4	435	1	0	0	0	0	0	0	0	1	1196	639	23	2		2	ATP8B3	19	1797000	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	181678	1797000	57331983	7881	28806											
REXO1	57455	broad.mit.edu	37	chr19	1816553	1816553	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcggcaaggtcagcctcCgtcacccccgaaaacctggg	8	6	12	15	3	2	0	2	0	0	0	4	1	3	0	5	3	2	1	5	3	3	0	rs551809507		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1816553C>T	ENST00000170168.4	-	14	3427	c.3333G>A	c.(3331-3333)acG>acA	p.T1111T	MIR1909_ENST00000411312.1_RNA|CTB-31O20.3_ENST00000586259.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1111	Exonuclease.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			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)		GGTCAGCCTCCGTCACCCCCG	0.667																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(3331-3333)acG>acA		REX1, RNA exonuclease 1 homolog (S. cerevisiae)							48	40	43					19																	1816553		2202	4299	6501	SO:0001819	synonymous_variant	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1816553C>T	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.3333G>A	19.37:g.1816553C>T							p.T1111T	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	3427	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	1111			Exonuclease.		Q9ULT2	Silent	SNP	ENST00000170168.4	37	c.3333G>A	CCDS32866.1																																																																																				0.667	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		11	25	0	0	0	1	0	11	25					T	1816553	C	T	1816553	2	4	435	1	0	0	0	0	0	0	0	1	13241	639	23	2		2	REXO1	19	1816553	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19553	1816553	57312430	7882	28807											
ADAT3	113179	broad.mit.edu	37	chr19	1913103	1913103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccgcttccaggtgttcCgcggggtgctggaggagcag	6	7	16	12	3	0	0	0	0	0	0	2	2	2	2	4	5	2	4	4	5	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1913103C>T	ENST00000602400.1	+	2	1237	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000316097.8_Intron|ADAT3_ENST00000329478.2_Missense_Mutation_p.R353C|SCAMP4_ENST00000414057.2_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	337					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		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)		CCAGGTGTTCCGCGGGGTGCT	0.751																																						ENST00000329478.2																			0				breast(1)|kidney(3)|pancreas(1)|skin(2)	7						c.(1057-1059)Cgc>Tgc		adenosine deaminase, tRNA-specific 3							8	9	9					19																	1913103		2156	4195	6351	SO:0001583	missense	113179				tRNA processing		hydrolase activity|zinc ion binding	g.chr19:1913103C>T	BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"	615302	"adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.1009C>T	19.37:g.1913103C>T	ENSP00000473571:p.Arg337Cys					ADAT3_ENST00000602400.1_Missense_Mutation_p.R337C|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000316097.8_Intron	p.R353C			Q96EY9	ADAT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1277	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	337						Missense_Mutation	SNP	ENST00000602400.1	37	c.1057C>T		.	.	.	.	.	.	.	.	.	.	c	15.58	2.875812	0.51695	.	.	ENSG00000213638	ENST00000329478	.	.	.	4.94	2.73	0.32206	Cytidine deaminase-like (1);	0.179078	0.44902	D	0.000402	T	0.51193	0.1660	M	0.73430	2.235	0.47547	D	0.999451	B	0.25486	0.127	B	0.17098	0.017	T	0.55592	-0.8117	9	0.87932	D	0	-27.7693	5.1555	0.15032	0.3428:0.548:0.0:0.1093	.	337	Q96EY9	ADAT3_HUMAN	C	337	.	ENSP00000332448:R337C	R	+	1	0	ADAT3	1864103	0.041000	0.20044	0.959000	0.39883	0.801000	0.45260	0.076000	0.14712	1.080000	0.41073	0.549000	0.68633	CGC		0.751	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422		3	7	0	0	0	1	0	3	7					T	1913103	C	T	1913103	3	4	435	1	0	0	0	0	1	0	0	0	286	652	23	2	1011	2	ADAT3	19	1913103	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	96550	1913103	57215880	7883	28808											
BTBD2	55643	broad.mit.edu	37	chr19	1987589	1987589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcccacgcaggcagcagCggggccggtcaatgaactcc	8	5	12	16	3	1	1	1	1	0	0	3	1	3	1	4	4	3	3	4	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1987589C>T	ENST00000255608.4	-	6	1107	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	364						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGCAGCAGCGGGGCCGGTC	0.652																																						ENST00000255608.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12						c.(1090-1092)cGc>cAc		BTB (POZ) domain containing 2							51	43	46					19																	1987589		2203	4299	6502	SO:0001583	missense	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1987589C>T	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"BTB/POZ domain containing"	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1091G>A	19.37:g.1987589C>T	ENSP00000255608:p.Arg364His						p.R364H	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1107	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	364					O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	37	c.1091G>A	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	c	18.31	3.596466	0.66332	.	.	ENSG00000133243	ENST00000255608	D	0.82893	-1.66	4.21	3.17	0.36434	.	0.052373	0.85682	N	0.000000	T	0.80824	0.4697	M	0.81179	2.53	0.58432	D	0.999994	P	0.41498	0.752	B	0.34779	0.189	T	0.82194	-0.0578	10	0.87932	D	0	-30.4761	11.2189	0.48842	0.0:0.9098:0.0:0.0902	.	364	Q9BX70	BTBD2_HUMAN	H	364	ENSP00000255608:R364H	ENSP00000255608:R364H	R	-	2	0	BTBD2	1938589	1.000000	0.71417	0.942000	0.38095	0.972000	0.66771	5.660000	0.68018	0.977000	0.38444	0.556000	0.70494	CGC		0.652	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			4	14	0	0	0	1	0	4	14					T	1987589	C	T	1987589	3	4	435	1	0	0	0	0	1	0	0	0	1543	768	27	1	502	1	BTBD2	19	1987589	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	74486	1987589	57141394	7884	28809											
BTBD2	55643	broad.mit.edu	37	chr19	1990006	1990006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcccgagctctgttacctgCagcgaactcctcgatggtca	8	9	10	14	3	2	0	1	0	1	0	4	3	3	0	3	1	6	3	3	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1990006C>T	ENST00000255608.4	-	5	1001	c.985G>A	c.(985-987)Gca>Aca	p.A329T	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	329						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTTACCTGCAGCGAACTCC	0.637																																						ENST00000255608.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12						c.(985-987)Gca>Aca		BTB (POZ) domain containing 2							40	39	40					19																	1990006		2203	4300	6503	SO:0001583	missense	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1990006C>T	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"BTB/POZ domain containing"	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.985G>A	19.37:g.1990006C>T	ENSP00000255608:p.Ala329Thr					AC005306.3_ENST00000588480.1_RNA|AC005306.3_ENST00000587498.1_RNA	p.A329T	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1001	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	329					O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	37	c.985G>A	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665869	0.47677	.	.	ENSG00000133243	ENST00000255608	T	0.74002	-0.8	3.9	3.9	0.45041	BTB/Kelch-associated (1);	0.000000	0.85682	D	0.000000	T	0.68751	0.3035	L	0.54323	1.7	0.80722	D	1	P	0.38250	0.624	B	0.36378	0.223	T	0.70303	-0.4909	10	0.33940	T	0.23	.	15.0283	0.71687	0.0:1.0:0.0:0.0	.	329	Q9BX70	BTBD2_HUMAN	T	329	ENSP00000255608:A329T	ENSP00000255608:A329T	A	-	1	0	BTBD2	1941006	1.000000	0.71417	0.873000	0.34254	0.449000	0.32228	7.495000	0.81514	2.020000	0.59435	0.549000	0.68633	GCA		0.637	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			12	14	0	0	0	1	0	12	14					T	1990006	C	T	1990006	3	4	435	1	0	0	0	0	1	0	0	0	1543	710	25	3	612	3	BTBD2	19	1990006	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2417	1990006	57138977	7885	28810											
MKNK2	2872	broad.mit.edu	37	chr19	2043567	2043567	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccgaatgtggcctggCtgcttctcaatgatctgaaa	8	12	10	11	1	2	2	1	2	2	0	4	3	3	2	2	2	2	3	2	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2043567C>T	ENST00000591601.1	-	5	389	c.354G>A	c.(352-354)caG>caA	p.Q118Q	MKNK2_ENST00000250896.3_Silent_p.Q118Q|MKNK2_ENST00000541165.1_5'UTR|MKNK2_ENST00000591142.1_5'Flank|MKNK2_ENST00000588014.1_5'Flank|MKNK2_ENST00000591588.1_5'Flank|MKNK2_ENST00000309340.7_Silent_p.Q118Q			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGGCCTGGCTGCTTCTCAA	0.592																																						ENST00000250896.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(3)	10						c.(352-354)caG>caA		MAP kinase interacting serine/threonine kinase 2							133	90	105					19																	2043567		2203	4300	6503	SO:0001819	synonymous_variant	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2043567C>T	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"Putative map kinase interacting kinase"	605069	"G protein-coupled receptor kinase 7"	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.354G>A	19.37:g.2043567C>T						MKNK2_ENST00000541165.1_5'UTR|MKNK2_ENST00000309340.7_Silent_p.Q118Q|MKNK2_ENST00000591601.1_Silent_p.Q118Q	p.Q118Q	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	598	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	118			Protein kinase.		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	ENST00000591601.1	37	c.354G>A	CCDS12080.1																																																																																				0.592	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		10	18	0	0	0	1	0	10	18					T	2043567	C	T	2043567	2	4	435	1	0	0	0	0	0	0	0	1	9605	796	28	3		3	MKNK2	19	2043567	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	53561	2043567	57085416	7886	28811											
MOBKL2A	126308	broad.mit.edu	37	chr19	2078368	2078368	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttaaagaagtccaccacGtgaacagccacccagtcgtt	12	7	9	13	3	0	2	0	1	0	1	2	2	1	2	4	1	2	2	4	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2078368G>A	ENST00000357066.3	-	3	571	c.192C>T	c.(190-192)caC>caT	p.H64H	MOB3A_ENST00000592280.1_Silent_p.H64H|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	64						intracellular (GO:0005622)	metal ion binding (GO:0046872)										AGTCCACCACGTGAACAGCCA	0.657																																						ENST00000357066.3																			0											c.(190-192)caC>caT		MOB kinase activator 3A							88	80	82					19																	2078368		2203	4300	6503	SO:0001819	synonymous_variant	126308					intracellular	metal ion binding	g.chr19:2078368G>A	AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"MOB kinase activators"	29802	protein-coding gene	gene with protein product	"MOB LAK"		"MOB1, Mps One Binder kinase activator-like 2A (yeast)"	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.192C>T	19.37:g.2078368G>A						MOB3A_ENST00000592280.1_Silent_p.H64H|MOB3A_ENST00000592143.1_Intron	p.H64H	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN			3	571	-			64					B3KTF1|O75249|Q8TF69	Silent	SNP	ENST00000357066.3	37	c.192C>T	CCDS12081.1																																																																																				0.657	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	NM_130807		19	30	0	0	0	1	0	19	30					A	2078368	G	A	2078368	2	1	435	1	0	0	0	0	0	0	0	1	9684	1136	40	1		1	MOBKL2A	19	2078368	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	34801	2078368	57050615	7887	28812											
DOT1L	84444	broad.mit.edu	37	chr19	2214517	2214517	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggactgggccacgctgtcGctggagaagctgttgaagga	8	8	16	9	2	0	2	0	1	0	1	1	5	0	4	1	4	1	4	1	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2214517G>A	ENST00000398665.3	+	19	1881	c.1845G>A	c.(1843-1845)tcG>tcA	p.S615S	AC004490.1_ENST00000585593.1_RNA|DOT1L_ENST00000608122.1_3'UTR	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	615					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.S615S(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACGCTGTCGCTGGAGAAGC	0.647																																						ENST00000398665.3																			2	Substitution - coding silent(2)	p.S615S(2)	kidney(2)	NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(1843-1845)tcG>tcA		DOT1-like histone H3K79 methyltransferase							35	40	38					19																	2214517		2125	4243	6368	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2214517G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1845G>A	19.37:g.2214517G>A						DOT1L_ENST00000586024.1_3'UTR|AC004490.1_ENST00000585593.1_RNA	p.S615S	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	19	1881	+		Hepatocellular(1079;0.137)	615					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.1845G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	5.939	0.357241	0.11239	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.69	-5.23	0.02798	.	.	.	.	.	T	0.35278	0.0926	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44128	-0.9348	4	.	.	.	-34.377	0.5912	0.00728	0.2848:0.1747:0.3038:0.2367	.	.	.	.	H	402	.	.	R	+	2	0	DOT1L	2165517	0.017000	0.18338	0.989000	0.46669	0.425000	0.31504	-0.905000	0.04075	-0.342000	0.08363	-1.103000	0.02113	CGC		0.647	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		11	9	0	0	0	1	0	11	9					A	2214517	G	A	2214517	2	1	435	1	0	0	0	0	0	0	0	1	4709	1074	38	1		1	DOT1L	19	2214517	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	136149	2214517	56914466	7888	28813											
SF3A2	8175	broad.mit.edu	37	chr19	2248531	2248531	+	Frame_Shift_Del	DEL	C	C	-																															cagggaacatacctccccctCccccaaccaactgagaagct																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2248531delC	ENST00000221494.5	+	9	1799	c.1381delC	c.(1381-1383)cccfs	p.P462fs	MIR4321_ENST00000592276.1_RNA|AMH_ENST00000221496.4_5'Flank	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	462	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTCCCCCTCCCCCAACCAA	0.627																																						ENST00000221494.4																			0				NS(1)|large_intestine(1)|lung(2)	4						c.(1381-1383)ccfs		splicing factor 3a, subunit 2, 66kDa							15	18	17					19																	2248531		1887	4083	5970	SO:0001589	frameshift_variant	8175				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding	g.chr19:2248531delC	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"splicing factor 3a, subunit 2, 66kD"			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.1381delC	19.37:g.2248531delC	ENSP00000221494:p.Pro462fs						p.P462fs	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1799	+		Hepatocellular(1079;0.137)	462			Pro-rich.		B2RBU1|D6W605|O75245	Frame_Shift_Del	DEL	ENST00000221494.5	37	c.1381delC	CCDS12084.1																																																																																				0.627	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			2	4						2	4	---	---	---	---	-	2248531	C	-	2248531	7	5	435	1	0	1	0	1	0	0	0	0	14147	855	30	0	1411	0	SF3A2	19	2248531	Frame_Shift_Del	DEL	C	TCGA-XK-AAIW-01A-11D-A41K-08	34014	2248531	56880452	7889	28814											
C19orf35	374872	broad.mit.edu	37	chr19	2278607	2278607	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaccaggatgtgccaggcGtcctcgtgcgcgcgcaccac	6	5	14	16	6	0	0	0	0	0	0	2	2	1	1	4	2	2	1	4	2	0	0	rs201179719		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2278607G>A	ENST00000342063.3	-	3	681	c.588C>T	c.(586-588)gaC>gaT	p.D196D		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	196										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCCAGGCGTCCTCGTGCG	0.657													G|||	1	0.000199681	0	0	5008	,	,		14310	0.001		0	False		,,,				2504	0					ENST00000342063.3																			0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(586-588)gaC>gaT		chromosome 19 open reading frame 35							29	30	30					19																	2278607		2196	4292	6488	SO:0001819	synonymous_variant	374872							g.chr19:2278607G>A	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.588C>T	19.37:g.2278607G>A							p.D196D	NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	681	-			196						Silent	SNP	ENST00000342063.3	37	c.588C>T	CCDS12087.1																																																																																				0.657	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		9	8	0	0	0	1	0	9	8					A	2278607	G	A	2278607	2	1	435	1	0	0	0	0	0	0	0	1	1920	1136	40	1		1	C19orf35	19	2278607	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	30076	2278607	56850376	7890	28815											
SPPL2B	0	broad.mit.edu	37	chr19	2352991	2352991	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaccagccgacggcccGcagcctcccaaagactctgc	9	3	9	20	3	1	1	0	0	1	1	2	2	2	1	6	1	4	2	6	1	1	0	rs199783195		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2352991G>A	ENST00000609490.1	-	0	450				SPPL2B_ENST00000452401.2_RNA																							CCGACGGCCCGCAGCCTCCCA	0.657													G|||	1	0.000199681	0	0.0014	5008	,	,		11521	0		0	False		,,,				2504	0					ENST00000452401.2																			0													signal peptide peptidase like 2B		G	,	6,4106		0,6,2050	19	27	24		,1562	-9.6	0	19		24	0,8374		0,0,4187	yes	utr-3,coding-synonymous	SPPL2B	NM_001077238.1,NM_152988.2	,	0,6,6237	AA,AG,GG		0.0,0.1459,0.0481	,	,521/593	2352991	6,12480	2056	4187	6243			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2352991G>A																													19.37:g.2352991G>A						AC005258.3_ENST00000590001.1_RNA				Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	1703	+		Hepatocellular(1079;0.137)							RNA	SNP	ENST00000609490.1	37																																																																																						0.657	LLfos-48D6.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000473157.1			8	12	0	0	0	1	0	8	12					A	2352991	G	A	2352991	1	1	435	0	1	0	0	0	0	0	0	0	15088	1074	38	1		1	SPPL2B	19	2352991	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	74384	2352991	56775992	7891	28816											
TMPRSS9	360200	broad.mit.edu	37	chr19	2408424	2408424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctcggaggccagcaccGtgcgggcccaggtggtccag	5	4	18	14	4	0	0	0	0	0	0	2	1	1	1	4	6	2	2	4	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2408424G>A	ENST00000332578.3	+	7	811	c.811G>A	c.(811-813)Gtg>Atg	p.V271M		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	271	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			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)		GGCCAGCACCGTGCGGGCCCA	0.647																																						ENST00000332578.3																			0				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						c.(811-813)Gtg>Atg		transmembrane protease, serine 9							79	70	73					19																	2408424		2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2408424G>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.811G>A	19.37:g.2408424G>A	ENSP00000330264:p.Val271Met						p.V271M	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	811	+			271			Peptidase S1 1.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.811G>A	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812128	0.32053	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.88664	-2.41	4.67	3.63	0.41609	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.41938	U	0.000790	D	0.91033	0.7179	L	0.45744	1.44	0.35817	D	0.824291	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.91168	0.4966	10	0.33141	T	0.24	.	11.3001	0.49300	0.0916:0.0:0.9084:0.0	.	271;305	Q7Z410;E7EMP4	TMPS9_HUMAN;.	M	305;271	ENSP00000330264:V271M	ENSP00000330264:V271M	V	+	1	0	TMPRSS9	2359424	1.000000	0.71417	0.045000	0.18777	0.140000	0.21249	3.649000	0.54417	0.966000	0.38159	0.491000	0.48974	GTG		0.647	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		19	33	0	0	0	1	0	19	33					A	2408424	G	A	2408424	3	1	435	1	0	0	0	0	1	0	0	0	16250	1145	40	1	837	1	TMPRSS9	19	2408424	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	55433	2408424	56720559	7892	28817											
TMPRSS9	360200	broad.mit.edu	37	chr19	2408468	2408468	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagcaccccctgtacaaCgcggacacggccgactttga	10	6	10	15	4	1	1	1	1	0	0	1	3	1	2	3	2	3	2	3	2	3	2	rs368841376		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2408468C>T	ENST00000332578.3	+	7	855	c.855C>T	c.(853-855)aaC>aaT	p.N285N		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	285	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			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)		CCCTGTACAACGCGGACACGG	0.677																																						ENST00000332578.3																			0				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						c.(853-855)aaC>aaT		transmembrane protease, serine 9		C		0,4406		0,0,2203	111	95	101		855	-0.3	0	19		101	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TMPRSS9	NM_182973.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		285/1060	2408468	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2408468C>T	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.855C>T	19.37:g.2408468C>T							p.N285N	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	855	+			285			Peptidase S1 1.		Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	c.855C>T	CCDS12088.1																																																																																				0.677	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		25	42	0	0	0	1	0	25	42					T	2408468	C	T	2408468	2	4	435	1	0	0	0	0	0	0	0	1	16250	535	19	1		1	TMPRSS9	19	2408468	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44	2408468	56720515	7893	28818											
LMNB2	84823	broad.mit.edu	37	chr19	2434012	2434012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcttccgcttactgcggcCcaggcgcccggtggcggaca	4	6	14	17	6	0	0	0	0	0	0	1	1	1	1	4	5	2	2	4	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2434012C>T	ENST00000582871.1	-	8	1320	c.1234G>A	c.(1234-1236)Ggc>Agc	p.G412S	LMNB2_ENST00000325327.3_Missense_Mutation_p.G432S|LMNB2_ENST00000475819.1_5'Flank	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	412	Tail.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			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)		TTACTGCGGCCCAGGCGCCCG	0.721																																						ENST00000325327.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1294-1296)Ggc>Agc		lamin B2							9	11	11					19																	2434012		2165	4253	6418	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2434012C>T	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"Intermediate filaments type V, lamins"	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1234G>A	19.37:g.2434012C>T	ENSP00000462730:p.Gly412Ser					LMNB2_ENST00000582871.1_Missense_Mutation_p.G412S	p.G432S			Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1356	-		Hepatocellular(1079;0.137)	412	LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979).		Tail.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.1294G>A		.	.	.	.	.	.	.	.	.	.	C	3.952	-0.012093	0.07727	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.27	1.99	0.26369	.	0.159384	0.41938	D	0.000793	T	0.15176	0.0366	N	0.10972	0.075	0.09310	N	0.999999	B	0.14012	0.009	B	0.12156	0.007	T	0.16689	-1.0394	8	.	.	.	.	4.8669	0.13613	0.4116:0.4685:0.0:0.12	.	412	Q03252	LMNB2_HUMAN	S	412	.	.	G	-	1	0	LMNB2	2385012	0.320000	0.24616	0.286000	0.24833	0.464000	0.32679	0.771000	0.26633	0.790000	0.33803	0.561000	0.74099	GGC		0.721	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		6	7	0	0	0	1	0	6	7					T	2434012	C	T	2434012	3	4	435	1	0	0	0	0	1	0	0	0	8850	623	22	3	588	3	LMNB2	19	2434012	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25544	2434012	56694971	7894	28819											
LMNB2	84823	broad.mit.edu	37	chr19	2434506	2434506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccgaatgcgatcttcagcgGcactggcctgcggagggggc	6	6	16	13	4	2	0	1	0	1	0	2	3	2	1	2	5	3	1	2	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2434506G>A	ENST00000582871.1	-	7	1015	c.929C>T	c.(928-930)gCc>gTc	p.A310V	LMNB2_ENST00000325327.3_Missense_Mutation_p.A330V|LMNB2_ENST00000475819.1_5'Flank	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	310	Coil 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			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)		ATCTTCAGCGGCACTGGCCTG	0.667																																						ENST00000325327.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(988-990)gCc>gTc		lamin B2							41	34	36					19																	2434506		2201	4297	6498	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2434506G>A	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"Intermediate filaments type V, lamins"	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.929C>T	19.37:g.2434506G>A	ENSP00000462730:p.Ala310Val					LMNB2_ENST00000582871.1_Missense_Mutation_p.A310V	p.A330V			Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1051	-		Hepatocellular(1079;0.137)	310			Coil 2.|Rod.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.989C>T		.	.	.	.	.	.	.	.	.	.	G	17.25	3.342101	0.61073	.	.	ENSG00000176619	ENST00000325327	D	0.88431	-2.38	4.14	4.14	0.48551	Filament (1);	0.115504	0.64402	D	0.000019	D	0.86644	0.5982	L	0.49455	1.56	0.58432	D	0.999998	P	0.43857	0.819	B	0.41666	0.363	D	0.88360	0.2987	10	0.62326	D	0.03	.	14.9833	0.71327	0.0:0.0:1.0:0.0	.	310	Q03252	LMNB2_HUMAN	V	310	ENSP00000327054:A310V	ENSP00000327054:A310V	A	-	2	0	LMNB2	2385506	0.683000	0.27633	0.023000	0.16930	0.209000	0.24338	1.647000	0.37260	1.855000	0.53841	0.561000	0.74099	GCC		0.667	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		8	11	0	0	0	1	0	8	11					A	2434506	G	A	2434506	3	1	435	1	0	0	0	0	1	0	0	0	8850	1203	42	3	897	3	LMNB2	19	2434506	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	494	2434506	56694477	7895	28820											
SGTA	6449	broad.mit.edu	37	chr19	2762503	2762503	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgcccccgctgcactcaCggggctgggggcctcccgca	4	5	13	19	4	1	0	1	0	0	0	3	0	2	0	4	4	1	4	4	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2762503C>T	ENST00000221566.2	-	7	798		c.e7+1			NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha						viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCACTCACGGGGCTGGGG	0.637																																						ENST00000221566.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.e7+1		small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha							64	63	64					19																	2762503		2203	4300	6503	SO:0001630	splice_region_variant	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2762503C>T	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.636+1G>A	19.37:g.2762503C>T								NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	798	-		Hepatocellular(1079;0.137)						D6W610|Q6FIA9|Q9BTZ9	Splice_Site	SNP	ENST00000221566.2	37		CCDS12094.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963644	0.34659	.	.	ENSG00000104969	ENST00000221566	.	.	.	3.71	2.67	0.31697	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0511	0.42216	0.0:0.8973:0.0:0.1027	.	.	.	.	.	-1	.	.	.	-	.	.	SGTA	2713503	1.000000	0.71417	0.021000	0.16686	0.007000	0.05969	5.615000	0.67702	0.690000	0.31570	-0.136000	0.14681	.		0.637	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021	Intron	26	40	0	0	0	1	0	26	40					T	2762503	C	T	2762503	5	4	435	1	0	0	0	0	0	0	1	0	14225	550	19	1	324	1	SGTA	19	2762503	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	327997	2762503	56366480	7896	28821											
SGTA	6449	broad.mit.edu	37	chr19	2762618	2762618	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagccacggcctccacgtgCttgttgaggctggagagcgc	7	8	14	12	3	0	2	0	1	0	1	1	3	1	2	3	3	3	3	3	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2762618C>T	ENST00000221566.2	-	7	683	c.522G>A	c.(520-522)aaG>aaA	p.K174K		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	174					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCACGTGCTTGTTGAGGC	0.632																																						ENST00000221566.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(520-522)aaG>aaA		small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha							116	113	114					19																	2762618		2203	4300	6503	SO:0001819	synonymous_variant	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2762618C>T	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.522G>A	19.37:g.2762618C>T							p.K174K	NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	683	-		Hepatocellular(1079;0.137)	174					D6W610|Q6FIA9|Q9BTZ9	Silent	SNP	ENST00000221566.2	37	c.522G>A	CCDS12094.1																																																																																				0.632	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		46	64	0	0	0	1	0	46	64					T	2762618	C	T	2762618	2	4	435	1	0	0	0	0	0	0	0	1	14225	796	28	3		3	SGTA	19	2762618	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	115	2762618	56366365	7897	28822											
SGTA	6449	broad.mit.edu	37	chr19	2767626	2767626	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccggcagagtctgagggagCgcaaggtcactgtcttctac	8	9	13	11	2	4	2	1	1	3	1	5	3	5	3	1	3	2	2	1	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2767626C>T	ENST00000221566.2	-	3	320	c.159G>A	c.(157-159)gcG>gcA	p.A53A		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	53					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGAGGGAGCGCAAGGTCAC	0.597																																						ENST00000221566.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(157-159)gcG>gcA		small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha							62	53	56					19																	2767626		2203	4300	6503	SO:0001819	synonymous_variant	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2767626C>T	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.159G>A	19.37:g.2767626C>T							p.A53A	NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	320	-		Hepatocellular(1079;0.137)	53					D6W610|Q6FIA9|Q9BTZ9	Silent	SNP	ENST00000221566.2	37	c.159G>A	CCDS12094.1																																																																																				0.597	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		9	21	0	0	0	1	0	9	21					T	2767626	C	T	2767626	2	4	435	1	0	0	0	0	0	0	0	1	14225	755	27	1		1	SGTA	19	2767626	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5008	2767626	56361357	7898	28823											
SGTA	6449	broad.mit.edu	37	chr19	2768990	2768990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaagctctcctgagcatcgGacgagaggcccccgtgccgg	7	5	13	16	4	1	2	0	1	1	1	3	4	1	3	5	3	3	2	5	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2768990G>A	ENST00000221566.2	-	2	238	c.77C>T	c.(76-78)tCc>tTc	p.S26F		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	26					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAGCATCGGACGAGAGGCC	0.627																																						ENST00000221566.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(76-78)tCc>tTc		small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha							71	76	74					19																	2768990		2203	4300	6503	SO:0001583	missense	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2768990G>A	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.77C>T	19.37:g.2768990G>A	ENSP00000221566:p.Ser26Phe						p.S26F	NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	238	-		Hepatocellular(1079;0.137)	26					D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	ENST00000221566.2	37	c.77C>T	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767038	0.31320	.	.	ENSG00000104969	ENST00000221566	T	0.36520	1.25	4.71	4.71	0.59529	.	0.206543	0.45361	D	0.000363	T	0.39733	0.1089	M	0.62088	1.915	0.28814	N	0.898081	B	0.22683	0.073	B	0.26094	0.066	T	0.43956	-0.9359	10	0.62326	D	0.03	-10.4007	15.1628	0.72798	0.0:0.0:1.0:0.0	.	26	O43765	SGTA_HUMAN	F	26	ENSP00000221566:S26F	ENSP00000221566:S26F	S	-	2	0	SGTA	2719990	1.000000	0.71417	0.334000	0.25495	0.065000	0.16274	7.269000	0.78482	2.165000	0.68154	0.491000	0.48974	TCC		0.627	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		15	38	0	0	0	1	0	15	38					A	2768990	G	A	2768990	3	1	435	1	0	0	0	0	1	0	0	0	14225	1174	41	3	904	3	SGTA	19	2768990	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1364	2768990	56359993	7899	28824											
THOP1	7064	broad.mit.edu	37	chr19	2807564	2807564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatccgtgcctgggacatGcgctactacatgaaccaggt	9	8	11	13	3	0	1	0	1	0	0	1	2	1	2	3	2	5	2	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2807564G>A	ENST00000307741.6	+	8	1214	c.1011G>A	c.(1009-1011)atG>atA	p.M337I	THOP1_ENST00000586677.1_Missense_Mutation_p.M216I|THOP1_ENST00000395212.4_5'Flank|THOP1_ENST00000591149.1_3'UTR	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	337					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGGACATGCGCTACTACA	0.667																																						ENST00000307741.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14						c.(1009-1011)atG>atA		thimet oligopeptidase 1							48	50	49					19																	2807564		2201	4300	6501	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2807564G>A		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.1011G>A	19.37:g.2807564G>A	ENSP00000304467:p.Met337Ile					THOP1_ENST00000586677.1_Missense_Mutation_p.M216I|THOP1_ENST00000591149.1_3'UTR	p.M337I	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1214	+			337					B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.1011G>A	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083789	0.55861	.	.	ENSG00000172009	ENST00000307741	T	0.06849	3.25	5.18	4.1	0.47936	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.127614	0.64402	D	0.000001	T	0.04092	0.0114	N	0.05554	-0.025	0.80722	D	1	B;B	0.23650	0.089;0.089	B;B	0.25405	0.06;0.06	T	0.21930	-1.0231	10	0.02654	T	1	-73.3855	13.8335	0.63395	0.0:0.0:0.8466:0.1534	.	216;337	B4DU96;P52888	.;THOP1_HUMAN	I	337	ENSP00000304467:M337I	ENSP00000304467:M337I	M	+	3	0	THOP1	2758564	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.875000	0.48491	2.409000	0.81822	0.561000	0.74099	ATG		0.667	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			11	13	0	0	0	1	0	11	13					A	2807564	G	A	2807564	3	1	435	1	0	0	0	0	1	0	0	0	15868	1319	46	3	1041	3	THOP1	19	2807564	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38574	2807564	56321419	7900	28825											
ZNF555	148254	broad.mit.edu	37	chr19	2853573	2853573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatatgagaagacataccGcagagaaactctataaatgc	19	7	7	8	1	1	3	0	1	1	3	1	5	1	3	1	0	4	1	1	0	8	4	rs201040185		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2853573G>A	ENST00000334241.4	+	4	1648	c.1510G>A	c.(1510-1512)Gca>Aca	p.A504T	ZNF555_ENST00000591539.1_Missense_Mutation_p.A503T|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	504					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACATACCGCAGAGAAACT	0.418													G|||	1	0.000199681	0	0.0014	5008	,	,		24813	0		0	False		,,,				2504	0					ENST00000334241.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23						c.(1510-1512)Gca>Aca		zinc finger protein 555		G	THR/ALA,THR/ALA	0,4406	2.1+/-5.4	0,0,2203	116	107	110		1507,1510	1	0	19		110	1,8599		0,1,4299	yes	missense,missense	ZNF555	NM_001172775.1,NM_152791.4	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	503/628,504/629	2853573	1,13005	2203	4300	6503	SO:0001583	missense	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2853573G>A	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"Zinc fingers, C2H2-type", "-"	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1510G>A	19.37:g.2853573G>A	ENSP00000334853:p.Ala504Thr					ZNF555_ENST00000591539.1_Missense_Mutation_p.A503T|AC006130.3_ENST00000589365.1_RNA	p.A504T	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1648	+			504					A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	c.1510G>A	CCDS12096.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	11.26	1.587745	0.28268	0.0	1.16E-4	ENSG00000186300	ENST00000334241	T	0.17854	2.25	3.22	0.998	0.19857	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08980	0.0222	N	0.11131	0.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.30736	-0.9968	9	0.72032	D	0.01	.	7.2694	0.26248	0.2359:0.0:0.7641:0.0	.	504;503	Q8NEP9;A8KA89	ZN555_HUMAN;.	T	504	ENSP00000334853:A504T	ENSP00000334853:A504T	A	+	1	0	ZNF555	2804573	0.983000	0.35010	0.000000	0.03702	0.651000	0.38670	4.638000	0.61353	0.202000	0.20498	-0.254000	0.11334	GCA		0.418	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		18	54	0	0	0	1	0	18	54					A	2853573	G	A	2853573	3	1	435	1	0	0	0	0	1	0	0	0	17983	1087	38	1	1524	1	ZNF555	19	2853573	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	46009	2853573	56275410	7901	28826											
ZNF57	126295	broad.mit.edu	37	chr19	2917987	2917987	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaacactgtgggaaggcCtttacctcttccagagcatt	9	12	10	10	0	1	2	0	1	1	1	2	3	2	3	3	2	3	1	3	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2917987C>A	ENST00000306908.5	+	4	1516	c.1368C>A	c.(1366-1368)gcC>gcA	p.A456A	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Silent_p.A424A	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGGAAGGCCTTTACCTCTT	0.438																																					NSCLC(150;910 1964 4303 10464 26498)	ENST00000306908.5																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1366-1368)gcC>gcA		zinc finger protein 57							115	103	107					19																	2917987		2203	4300	6503	SO:0001819	synonymous_variant	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917987C>A	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"Zinc fingers, C2H2-type", "-"	13125	protein-coding gene	gene with protein product			"zinc finger protein 424"	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1368C>A	19.37:g.2917987C>A						AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Silent_p.A424A	p.A456A	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian 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)	4	1516	+			456					Q8N6R9	Silent	SNP	ENST00000306908.5	37	c.1368C>A	CCDS12098.1																																																																																				0.438	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		26	49	1	0	2.48779e-11	1	2.67617e-11	26	49					A	2917987	C	A	2917987	2	1	435	1	0	0	0	0	0	0	0	1	17998	668	24	5		5	ZNF57	19	2917987	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	64414	2917987	56210996	7902	28827											
ZNF77	58492	broad.mit.edu	37	chr19	2933602	2933602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcgttctcacgtgcacaCgaagggacgaggaacaactg	11	7	13	10	4	1	0	1	0	1	0	2	4	1	2	0	2	4	2	0	2	3	1	rs139100623|rs565530193	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2933602C>T	ENST00000314531.4	-	4	1615	c.1523G>A	c.(1522-1524)cGt>cAt	p.R508H		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R508H(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid 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)		CACGTGCACACGAAGGGACGA	0.493																																						ENST00000314531.4																			1	Substitution - Missense(1)	p.R508H(1)	ovary(1)	breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1522-1524)cGt>cAt		zinc finger protein 77		C	HIS/ARG	0,4406		0,0,2203	212	174	187		1523	1.5	0	19	dbSNP_134	187	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZNF77	NM_021217.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	508/546	2933602	2,13004	2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2933602C>T	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1523G>A	19.37:g.2933602C>T	ENSP00000319053:p.Arg508His						p.R508H	NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid 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)	4	1615	-			508					Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.1523G>A	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910970	0.33721	0.0	2.33E-4	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.08102	3.13	2.56	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08044	0.0201	L	0.31120	0.905	0.09310	N	1	D	0.63880	0.993	P	0.48952	0.596	T	0.30504	-0.9976	9	0.35671	T	0.21	.	4.6621	0.12648	0.0:0.6857:0.0:0.3143	.	508	Q15935	ZNF77_HUMAN	H	302;508	ENSP00000319053:R508H	ENSP00000319053:R508H	R	-	2	0	ZNF77	2884602	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.909000	0.01586	0.415000	0.25817	0.491000	0.48974	CGT		0.493	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		43	72	0	0	0	1	0	43	72					T	2933602	C	T	2933602	3	4	435	1	0	0	0	0	1	0	0	0	18139	536	19	1	118	1	ZNF77	19	2933602	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15615	2933602	56195381	7903	28828											
ZNF77	58492	broad.mit.edu	37	chr19	2933820	2933820	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacaatgcttacactcaaaGggcttctctccagtatgcgt	10	11	7	13	1	2	0	1	0	1	0	4	0	3	0	2	1	3	3	2	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2933820G>T	ENST00000314531.4	-	4	1397	c.1305C>A	c.(1303-1305)ccC>ccA	p.P435P		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid 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)		TACACTCAAAGGGCTTCTCTC	0.507																																						ENST00000314531.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1303-1305)ccC>ccA		zinc finger protein 77							95	80	85					19																	2933820		2203	4300	6503	SO:0001819	synonymous_variant	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2933820G>T	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1305C>A	19.37:g.2933820G>T							p.P435P	NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid 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)	4	1397	-			435					Q86XJ3|Q9NPP0	Silent	SNP	ENST00000314531.4	37	c.1305C>A	CCDS12099.1																																																																																				0.507	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		15	44	1	0	1.49906e-05	1	1.54943e-05	15	44					T	2933820	G	T	2933820	2	4	435	1	0	0	0	0	0	0	0	1	18139	987	35	5		5	ZNF77	19	2933820	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	218	2933820	56195163	7904	28829											
TLE2	7089	broad.mit.edu	37	chr19	3006490	3006490	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccttcacacagcccttGccgcccgtgtacacatgctg	8	8	7	18	2	1	0	1	0	0	0	1	0	1	0	4	0	4	2	4	0	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3006490G>A	ENST00000262953.6	-	15	1690	c.1428C>T	c.(1426-1428)ggC>ggT	p.G476G	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000447365.2_Silent_p.G143G|TLE2_ENST00000443826.3_Silent_p.G354G|TLE2_ENST00000591529.1_Silent_p.G490G|TLE2_ENST00000590536.1_Silent_p.G477G|TLE2_ENST00000455444.2_Silent_p.G354G|TLE2_ENST00000426948.2_Silent_p.G490G	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	476					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			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)		CACAGCCCTTGCCGCCCGTGT	0.716																																						ENST00000262953.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.(1426-1428)ggC>ggT		transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)							14	17	16					19																	3006490		2075	4215	6290	SO:0001819	synonymous_variant	7089				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	g.chr19:3006490G>A	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"WD repeat domain containing"	11838	protein-coding gene	gene with protein product	"enhancer of split groucho 2"	601041	"transducin-like enhancer of split 2, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1428C>T	19.37:g.3006490G>A						TLE2_ENST00000443826.3_Silent_p.G354G|TLE2_ENST00000591529.1_Silent_p.G490G|TLE2_ENST00000455444.2_Silent_p.G354G|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000447365.2_Silent_p.G143G|TLE2_ENST00000426948.2_Silent_p.G490G|TLE2_ENST00000590536.1_Silent_p.G477G	p.G476G	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	1690	-			476					B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Silent	SNP	ENST00000262953.6	37	c.1428C>T	CCDS45911.1																																																																																				0.716	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		4	10	0	0	0	1	0	4	10					A	3006490	G	A	3006490	2	1	435	1	0	0	0	0	0	0	0	1	15936	1306	46	3		3	TLE2	19	3006490	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	72670	3006490	56122493	7905	28830											
GNA11	2767	broad.mit.edu	37	chr19	3119007	3119007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccatcatgtttctcgtcGccctcagcgaatacgaccaa	10	10	6	15	4	3	0	2	0	1	0	6	2	4	0	3	0	2	1	3	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3119007G>A	ENST00000078429.4	+	5	933	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	231					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTTTCTCGTCGCCCTCAGCGA	0.632			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"			E			uveal melanoma		0				endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(691-693)Gcc>Acc		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							140	115	123					19																	3119007		2202	4300	6502	SO:0001583	missense	2767				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	g.chr19:3119007G>A	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.691G>A	19.37:g.3119007G>A	ENSP00000078429:p.Ala231Thr					AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.A231T	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		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)	5	933	+		Hepatocellular(1079;0.137)	231					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.691G>A	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	13.70	2.313925	0.40996	.	.	ENSG00000088256	ENST00000078429	T	0.77489	-1.1	3.39	2.32	0.28847	.	0.107907	0.39020	U	0.001487	D	0.91580	0.7340	H	0.98542	4.26	0.47994	D	0.999562	D	0.89917	1.0	D	0.91635	0.999	D	0.91887	0.5520	10	0.87932	D	0	.	10.7095	0.45975	0.0:0.0:0.8072:0.1928	.	231	P29992	GNA11_HUMAN	T	231	ENSP00000078429:A231T	ENSP00000078429:A231T	A	+	1	0	GNA11	3070007	1.000000	0.71417	0.032000	0.17829	0.003000	0.03518	5.188000	0.65093	0.527000	0.28560	-0.535000	0.04281	GCC		0.632	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		32	49	0	0	0	1	0	32	49					A	3119007	G	A	3119007	3	1	435	1	0	0	0	0	1	0	0	0	6499	1087	38	1	709	1	GNA11	19	3119007	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	112517	3119007	56009976	7906	28831											
NCLN	56926	broad.mit.edu	37	chr19	3192474	3192474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtgcccacaggcacacGgaatgcagtgctgaacacgg	10	5	12	14	2	0	1	0	1	0	0	0	2	0	2	2	3	4	3	2	3	2	0	rs370383654		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3192474G>A	ENST00000246117.4	+	2	622	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	NCLN_ENST00000590671.1_5'UTR	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	64					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGGCACACGGAATGCAGTG	0.697																																						ENST00000246117.4																			0				kidney(1)|lung(3)|skin(1)	5						c.(190-192)cGg>cAg		nicalin							13	14	13					19																	3192474		2171	4239	6410	SO:0001583	missense	56926				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding	g.chr19:3192474G>A	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"nicastrin-like protein"	609156	"nicalin homolog (zebrafish)"			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.191G>A	19.37:g.3192474G>A	ENSP00000246117:p.Arg64Gln					NCLN_ENST00000590671.1_5'UTR	p.R64Q	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN		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)	2	622	+		Hepatocellular(1079;0.137)	64					D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Missense_Mutation	SNP	ENST00000246117.4	37	c.191G>A	CCDS32869.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812201	0.70797	.	.	ENSG00000125912	ENST00000246117	T	0.41758	0.99	4.38	4.38	0.52667	.	0.096714	0.56097	D	0.000030	T	0.66307	0.2776	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.70328	-0.4902	10	0.44086	T	0.13	-7.1289	15.5394	0.76031	0.0:0.0:1.0:0.0	.	64	Q969V3	NCLN_HUMAN	Q	64	ENSP00000246117:R64Q	ENSP00000246117:R64Q	R	+	2	0	NCLN	3143474	1.000000	0.71417	0.876000	0.34364	0.010000	0.07245	9.272000	0.95707	1.992000	0.58205	0.555000	0.69702	CGG		0.697	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170		3	6	0	0	0	1	0	3	6					A	3192474	G	A	3192474	3	1	435	1	0	0	0	0	1	0	0	0	10227	1116	39	2	197	2	NCLN	19	3192474	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	73467	3192474	55936509	7907	28832											
DOHH	83475	broad.mit.edu	37	chr19	3494035	3494035	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggttacctcgatgacGgggtccgaggaatactgctt	7	10	14	10	3	0	1	0	1	0	0	2	4	1	2	3	5	3	2	3	5	3	3	rs11551227		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3494035G>A	ENST00000427575.1	-	3	793	c.342C>T	c.(340-342)ccC>ccT	p.P114P	DOHH_ENST00000250937.3_Silent_p.P114P	NM_001145165.1	NP_001138637.1			deoxyhypusine hydroxylase/monooxygenase											central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGATGACGGGGTCCGAGG	0.657																																						ENST00000427575.1																			0				central_nervous_system(1)|large_intestine(1)|lung(1)	3						c.(340-342)ccC>ccT		deoxyhypusine hydroxylase/monooxygenase							56	50	52					19																	3494035		2203	4300	6503	SO:0001819	synonymous_variant	83475				peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding	g.chr19:3494035G>A	BC002817	CCDS12108.1	19p13.3	2008-02-05	2006-05-22	2006-05-22		ENSG00000129932			28662	protein-coding gene	gene with protein product		611262	"HEAT-like (PBS lyase) repeat containing 1"	HLRC1		16371467, 16533814	Standard	NM_031304		Approved	MGC4293	uc002lxs.3	Q9BU89		ENST00000427575.1:c.342C>T	19.37:g.3494035G>A						DOHH_ENST00000250937.3_Silent_p.P114P	p.P114P	NM_001145165.1	NP_001138637.1	Q9BU89	DOHH_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	3	793	-			114						Silent	SNP	ENST00000427575.1	37	c.342C>T	CCDS12108.1																																																																																				0.657	DOHH-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452932.1	NM_031304		4	7	0	0	0	1	0	4	7					A	3494035	G	A	3494035	2	1	435	1	0	0	0	0	0	0	0	1	4695	1103	39	2		2	DOHH	19	3494035	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	301561	3494035	55634948	7908	28833											
FZR1	51343	broad.mit.edu	37	chr19	3526341	3526341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacccgcagactgaggaccGcaggctgcagccctccacgc	8	3	13	17	3	0	2	0	1	0	1	1	4	1	4	4	3	2	4	4	3	0	0	rs373146649		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3526341G>A	ENST00000395095.3	+	4	344	c.344G>A	c.(343-345)cGc>cAc	p.R115H	FZR1_ENST00000313639.8_Missense_Mutation_p.R115H|FZR1_ENST00000441788.2_Missense_Mutation_p.R115H	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	115					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				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)		ACTGAGGACCGCAGGCTGCAG	0.682																																						ENST00000441788.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(343-345)cGc>cAc		fizzy/cell division cycle 20 related 1 (Drosophila)		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4372		0,0,2186	28	29	28		344,344,344	4.7	0.8	19		28	1,8563		0,1,4281	no	missense,missense,missense	FZR1	NM_001136197.1,NM_001136198.1,NM_016263.3	29,29,29	0,1,6467	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	115/405,115/497,115/494	3526341	1,12935	2186	4282	6468	SO:0001583	missense	51343				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	g.chr19:3526341G>A	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.344G>A	19.37:g.3526341G>A	ENSP00000378529:p.Arg115His					FZR1_ENST00000395095.3_Missense_Mutation_p.R115H|FZR1_ENST00000313639.8_Missense_Mutation_p.R115H	p.R115H	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	5	580	+			115					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.344G>A	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364447	0.82463	0.0	1.17E-4	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.08546	3.08;3.08;3.08	4.69	4.69	0.59074	.	0.057311	0.64402	D	0.000004	T	0.27900	0.0687	M	0.69823	2.125	0.32485	N	0.540968	B;D;D	0.76494	0.237;0.999;0.998	B;D;D	0.74674	0.023;0.984;0.927	T	0.27468	-1.0073	10	0.51188	T	0.08	-36.6279	16.2306	0.82341	0.0:0.0:1.0:0.0	.	115;115;115	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	H	115	ENSP00000410369:R115H;ENSP00000378529:R115H;ENSP00000321800:R115H	ENSP00000321800:R115H	R	+	2	0	FZR1	3477341	1.000000	0.71417	0.795000	0.32087	0.401000	0.30781	9.562000	0.98145	2.157000	0.67596	0.561000	0.74099	CGC		0.682	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		3	5	0	0	0	1	0	3	5					A	3526341	G	A	3526341	3	1	435	1	0	0	0	0	1	0	0	0	6138	1087	38	1	358	1	FZR1	19	3526341	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32306	3526341	55602642	7909	28834											
FZR1	51343	broad.mit.edu	37	chr19	3527745	3527745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcaatctggtggactggtCgtccctcaatgtgctcagcg	6	11	11	13	2	4	0	3	0	1	0	6	1	5	1	2	3	2	1	2	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3527745C>T	ENST00000395095.3	+	6	587	c.587C>T	c.(586-588)tCg>tTg	p.S196L	FZR1_ENST00000313639.8_Intron|FZR1_ENST00000441788.2_Missense_Mutation_p.S196L	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	196					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				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)		GTGGACTGGTCGTCCCTCAAT	0.627																																						ENST00000441788.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(586-588)tCg>tTg		fizzy/cell division cycle 20 related 1 (Drosophila)							138	113	122					19																	3527745		2201	4297	6498	SO:0001583	missense	51343				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	g.chr19:3527745C>T	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.587C>T	19.37:g.3527745C>T	ENSP00000378529:p.Ser196Leu					FZR1_ENST00000395095.3_Missense_Mutation_p.S196L|FZR1_ENST00000313639.8_Intron	p.S196L	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	7	823	+			196					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.587C>T	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	C	34	5.365805	0.95900	.	.	ENSG00000105325	ENST00000441788;ENST00000395095	T;T	0.38560	1.13;1.13	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.054894	0.85682	D	0.000000	T	0.73171	0.3553	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.80968	-0.1145	10	0.87932	D	0	-19.2646	17.2027	0.86910	0.0:1.0:0.0:0.0	.	196;196	Q9UM11;Q9UM11-2	FZR_HUMAN;.	L	196	ENSP00000410369:S196L;ENSP00000378529:S196L	ENSP00000378529:S196L	S	+	2	0	FZR1	3478745	1.000000	0.71417	0.941000	0.38009	0.996000	0.88848	7.584000	0.82572	2.399000	0.81585	0.655000	0.94253	TCG		0.627	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		15	18	0	0	0	1	0	15	18					T	3527745	C	T	3527745	3	4	435	1	0	0	0	0	1	0	0	0	6138	893	31	2	609	2	FZR1	19	3527745	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1404	3527745	55601238	7910	28835											
C19orf28	100128569	broad.mit.edu	37	chr19	3542791	3542791	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctggcctagtgggtcccCcagtcttccctgggccatgg	4	9	12	16	0	1	0	0	0	1	0	3	0	3	0	6	4	0	0	6	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3542791C>A	ENST00000329493.5	+	2	107				MFSD12_ENST00000398558.4_Missense_Mutation_p.W535C|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000389395.3_Intron	NM_001135580.1	NP_001129052.1	A6NCJ1	CS071_HUMAN	chromosome 19 open reading frame 71											endometrium(2)	2						AGTGGGTCCCCCAGTCTTCCC	0.622																																						ENST00000398558.4																			0				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						c.(1603-1605)tgG>tgT		major facilitator superfamily domain containing 12							25	28	27					19																	3542791		1925	4122	6047	SO:0001627	intron_variant	126321				transmembrane transport	integral to membrane		g.chr19:3542791C>A		CCDS45918.1	19p13.3	2012-10-26			ENSG00000183397	ENSG00000183397			34496	protein-coding gene	gene with protein product							Standard	NM_001135580		Approved	LOC100128569	uc010xhm.2	A6NCJ1		ENST00000329493.5:c.84-442C>A	19.37:g.3542791C>A						C19orf71_ENST00000329493.5_Intron|MFSD12_ENST00000389395.3_Intron	p.W535C	NM_021731.2	NP_068377.2	Q6NUT3	CS028_HUMAN			10	1604	-			0						Missense_Mutation	SNP	ENST00000329493.5	37	c.1605G>T	CCDS45918.1	.	.	.	.	.	.	.	.	.	.	C	9.210	1.030716	0.19512	.	.	ENSG00000161091	ENST00000398558	T	0.20881	2.04	1.22	-1.57	0.08506	.	.	.	.	.	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	P	0.40144	0.704	B	0.23018	0.043	T	0.24225	-1.0166	9	0.87932	D	0	13.6263	2.3825	0.04357	0.0:0.4123:0.3316:0.256	.	535	A8MXP7	.	C	535	ENSP00000381566:W535C	ENSP00000381566:W535C	W	-	3	0	C19orf28	3493791	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-0.067000	0.11579	-0.430000	0.07318	0.467000	0.42956	TGG		0.622	C19orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452943.1	NM_001135580		12	5	1	0	0.0167234	1	0.0168567	12	5					A	3542791	C	A	3542791	1	1	435	0	1	0	0	0	0	0	0	0	1917	624	22	5		5	C19orf28	19	3542791	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15046	3542791	55586192	7911	28836											
GIPC3	126326	broad.mit.edu	37	chr19	3586531	3586531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagccacaaagtggacatGcagaagctcctggggggtca	13	5	13	10	0	1	1	1	0	0	1	2	2	2	2	2	4	4	2	2	4	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3586531G>T	ENST00000322315.5	+	2	309	c.264G>T	c.(262-264)atG>atT	p.M88I		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	88			M -> I (in DFNB15). {ECO:0000269|PubMed:21660509}.							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)		AAGTGGACATGCAGAAGCTCC	0.582											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000322315.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(262-264)atG>atT		GIPC PDZ domain containing family, member 3							64	66	66					19																	3586531		2203	4300	6503	SO:0001583	missense	126326							g.chr19:3586531G>T	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"chromosome 19 open reading frame 64", "deafness, autosomal recessive 72", "deafness, autosomal recessive 15"	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.264G>T	19.37:g.3586531G>T	ENSP00000319254:p.Met88Ile		OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	612		p.M88I	NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	2	309	+			88					O75227	Missense_Mutation	SNP	ENST00000322315.5	37	c.264G>T	CCDS32871.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209729	0.58343	.	.	ENSG00000179855	ENST00000322315	T	0.37058	1.22	3.49	3.49	0.39957	PDZ/DHR/GLGF (1);	0.087175	0.85682	D	0.000000	T	0.40040	0.1101	M	0.74467	2.265	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.47873	-0.9083	10	0.62326	D	0.03	-46.6184	13.7627	0.62977	0.0:0.0:1.0:0.0	.	88	Q8TF64	GIPC3_HUMAN	I	88	ENSP00000319254:M88I	ENSP00000319254:M88I	M	+	3	0	GIPC3	3537531	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.920000	0.92779	1.791000	0.52520	0.561000	0.74099	ATG		0.582	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		9	64	1	0	0.0581538	1	0.0584448	9	64					T	3586531	G	T	3586531	3	4	435	1	0	0	0	0	1	0	0	0	6394	1319	46	5	270	5	GIPC3	19	3586531	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43740	3586531	55542452	7912	28837											
TBXA2R	6915	broad.mit.edu	37	chr19	3600087	3600087	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcccagcgtcaggaagcaCcaggaccccgggtattgcac	9	4	13	15	3	1	0	1	0	0	0	1	2	1	2	4	3	3	3	4	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3600087C>T	ENST00000375190.4	-	2	939	c.546G>A	c.(544-546)tgG>tgA	p.W182*	TBXA2R_ENST00000589966.1_Intron|TBXA2R_ENST00000411851.3_Nonsense_Mutation_p.W182*|TBXA2R_ENST00000587717.1_5'UTR	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	182					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	TCAGGAAGCACCAGGACCCCG	0.721																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(544-546)tgG>tgA		thromboxane A2 receptor	Ridogrel(DB01207)						20	30	27					19																	3600087		2145	4239	6384	SO:0001587	stop_gained	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600087C>T		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"GPCR / Class A : Prostanoid receptors"	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.546G>A	19.37:g.3600087C>T	ENSP00000364336:p.Trp182*					TBXA2R_ENST00000587717.1_5'UTR|TBXA2R_ENST00000411851.3_Nonsense_Mutation_p.W182*|TBXA2R_ENST00000589966.1_Intron	p.W182*	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	939	-		Hepatocellular(1079;0.137)	182					O75228|Q6DK52|Q9UCY1|Q9UCY2	Nonsense_Mutation	SNP	ENST00000375190.4	37	c.546G>A	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	C	41	8.569316	0.98868	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.4351	16.3625	0.83273	0.0:1.0:0.0:0.0	.	.	.	.	X	182	.	ENSP00000364336:W182X	W	-	3	0	TBXA2R	3551087	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	7.626000	0.83164	2.270000	0.75569	0.313000	0.20887	TGG		0.721	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			7	20	0	0	0	1	0	7	20					T	3600087	C	T	3600087	4	4	435	1	0	0	0	0	0	1	0	0	15660	508	18	3	738	3	TBXA2R	19	3600087	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13556	3600087	55528896	7913	28838											
TBXA2R	6915	broad.mit.edu	37	chr19	3600381	3600381	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggcgtgctgggacaccacGatggtaccggtcaccagcag	8	5	15	13	4	1	0	1	0	0	0	1	2	1	1	3	4	3	3	3	4	1	1	rs200822145		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3600381G>A	ENST00000375190.4	-	2	645	c.252C>T	c.(250-252)atC>atT	p.I84I	TBXA2R_ENST00000589966.1_Silent_p.I84I|TBXA2R_ENST00000411851.3_Silent_p.I84I|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	84					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GGGACACCACGATGGTACCGG	0.672																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(250-252)atC>atT		thromboxane A2 receptor	Ridogrel(DB01207)	G	,	1,4325		0,1,2162	37	51	46		252,252	0.8	0.9	19		46	0,8482		0,0,4241	no	coding-synonymous,coding-synonymous	TBXA2R	NM_001060.5,NM_201636.2	,	0,1,6403	AA,AG,GG		0.0,0.0231,0.0078	,	84/344,84/408	3600381	1,12807	2163	4241	6404	SO:0001819	synonymous_variant	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600381G>A		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"GPCR / Class A : Prostanoid receptors"	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.252C>T	19.37:g.3600381G>A						TBXA2R_ENST00000411851.3_Silent_p.I84I|TBXA2R_ENST00000589966.1_Silent_p.I84I	p.I84I	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	645	-		Hepatocellular(1079;0.137)	84					O75228|Q6DK52|Q9UCY1|Q9UCY2	Silent	SNP	ENST00000375190.4	37	c.252C>T	CCDS42467.1																																																																																				0.672	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			10	24	0	0	0	1	0	10	24					A	3600381	G	A	3600381	2	1	435	1	0	0	0	0	0	0	0	1	15660	1048	37	2		2	TBXA2R	19	3600381	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	294	3600381	55528602	7914	28839											
C19orf29	58509	broad.mit.edu	37	chr19	3623889	3623889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcttccgctcctcccGcagccgcagccgctcctgca	3	8	9	21	4	0	0	0	0	0	0	4	0	4	0	6	0	5	7	6	0	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3623889G>A	ENST00000429344.2	-	2	491	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	CACTIN_ENST00000221899.3_Missense_Mutation_p.R79W|CACTIN_ENST00000248420.5_Missense_Mutation_p.R147W	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	147					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CGCTCCTCCCGCAGCCGCAGC	0.711																																						ENST00000429344.2																			0											c.(439-441)Cgg>Tgg		cactin, spliceosome C complex subunit							15	19	18					19																	3623889		1974	4103	6077	SO:0001583	missense	58509							g.chr19:3623889G>A	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"NY REN 24 antigen", "functional spliceosome-associated protein c", "cactin homolog (Drosophila)"		"chromosome 19 open reading frame 29"	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.439C>T	19.37:g.3623889G>A	ENSP00000415078:p.Arg147Trp					CACTIN_ENST00000248420.5_Missense_Mutation_p.R147W|CACTIN_ENST00000221899.3_Missense_Mutation_p.R79W	p.R147W	NM_001080543.1	NP_001074012.1					2	491	-								A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	c.439C>T	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721773	0.30503	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000221899	.	.	.	4.71	2.47	0.30058	.	0.150665	0.44688	D	0.000422	T	0.27731	0.0682	L	0.50333	1.59	0.29543	N	0.851953	D	0.56968	0.978	B	0.41299	0.353	T	0.32455	-0.9906	9	0.87932	D	0	.	5.4171	0.16380	0.1102:0.0:0.489:0.4008	.	147	Q8WUQ7	CS029_HUMAN	W	147;147;79	.	ENSP00000221899:R79W	R	-	1	2	C19orf29	3574889	0.988000	0.35896	0.799000	0.32177	0.231000	0.25187	4.283000	0.58977	0.981000	0.38548	-0.258000	0.10820	CGG		0.711	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			11	15	0	0	0	1	0	11	15					A	3623889	G	A	3623889	3	1	435	1	0	0	0	0	1	0	0	0	1918	1086	38	1	1873	1	C19orf29	19	3623889	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23508	3623889	55505094	7915	28840											
MATK	4145	broad.mit.edu	37	chr19	3778309	3778309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggaagggtggccggcgggCgggctctgcctcccagcagc	4	4	19	14	4	1	0	0	0	1	0	2	1	2	1	3	6	3	2	3	6	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3778309C>T	ENST00000310132.6	-	14	1794	c.1396G>A	c.(1396-1398)Gcc>Acc	p.A466T	MATK_ENST00000585778.1_Missense_Mutation_p.A465T|MATK_ENST00000395045.2_Missense_Mutation_p.A467T|MATK_ENST00000395040.2_Missense_Mutation_p.A425T	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	466	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			ARRPPFRKLAEKLARELRSAGAPASVSGQDADGSTSPRSQE P -> PAGHPSANWPRSWPGSYAVQVPQPPSQGRTPTVHLA PKPGALTPPGGPWPQRTERVESAAWGH (in Ref. 1; AAA16703). {ECO:0000305}.	cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGGCGGGCGGGCTCTGCC	0.716																																						ENST00000310132.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(1396-1398)Gcc>Acc		megakaryocyte-associated tyrosine kinase							19	23	21					19																	3778309		2191	4283	6474	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3778309C>T	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"SH2 domain containing"	6906	protein-coding gene	gene with protein product	"Csk-homologous kinase", "tyrosine-protein kinase CTK", "protein kinase HYL", "hematopoietic consensus tyrosine-lacking kinase", "tyrosylprotein kinase", "hydroxyaryl-protein kinase", "Csk-type protein tyrosine kinase", "HYL tyrosine kinase", "tyrosine kinase MATK", "leukocyte carboxyl-terminal src kinase related"	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.1396G>A	19.37:g.3778309C>T	ENSP00000308734:p.Ala466Thr					MATK_ENST00000395040.2_Missense_Mutation_p.A425T|MATK_ENST00000585778.1_Missense_Mutation_p.A465T|MATK_ENST00000395045.2_Missense_Mutation_p.A467T	p.A466T	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1794	-		Hepatocellular(1079;0.137)	466	ARRPPFRKLAEKLARELRSAGAPASVSGQDADGSTSPRSQE P -> PAGHPSANWPRSWPGSYAVQVPQPPSQGRTPTVHLA PKPGALTPPGGPWPQRTERVESAAWGH (in Ref. 1; AAA16703).		Protein kinase.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.1396G>A	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	C	1.949	-0.441808	0.04604	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.82711	-1.64;-1.64;-1.64	3.68	-1.51	0.08664	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.471455	0.20942	N	0.082902	T	0.69405	0.3107	L	0.37897	1.145	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.57917	-0.7728	10	0.51188	T	0.08	-16.0575	5.728	0.18024	0.1403:0.5776:0.0:0.2821	.	466;467;466	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	T	467;466;425	ENSP00000378485:A467T;ENSP00000308734:A466T;ENSP00000378481:A425T	ENSP00000308734:A466T	A	-	1	0	MATK	3729309	0.000000	0.05858	0.002000	0.10522	0.033000	0.12548	0.193000	0.17116	-0.047000	0.13423	-0.219000	0.12488	GCC		0.716	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		13	23	0	0	0	1	0	13	23					T	3778309	C	T	3778309	3	4	435	1	0	0	0	0	1	0	0	0	9332	768	27	1	131	1	MATK	19	3778309	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	154420	3778309	55350674	7916	28841											
MATK	4145	broad.mit.edu	37	chr19	3784338	3784338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgccggccacctctcacctCgcaggcctccaggatggtga	6	6	11	18	3	1	1	1	1	1	0	4	2	2	2	7	4	0	1	7	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3784338C>T	ENST00000310132.6	-	4	642	c.244G>A	c.(244-246)Gag>Aag	p.E82K	MATK_ENST00000585778.1_Missense_Mutation_p.E82K|MATK_ENST00000395045.2_Missense_Mutation_p.E83K|MATK_ENST00000395040.2_Missense_Mutation_p.E41K	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	82	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCTCACCTCGCAGGCCTCC	0.697																																						ENST00000310132.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(244-246)Gag>Aag		megakaryocyte-associated tyrosine kinase							20	23	22					19																	3784338		2199	4296	6495	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3784338C>T	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"SH2 domain containing"	6906	protein-coding gene	gene with protein product	"Csk-homologous kinase", "tyrosine-protein kinase CTK", "protein kinase HYL", "hematopoietic consensus tyrosine-lacking kinase", "tyrosylprotein kinase", "hydroxyaryl-protein kinase", "Csk-type protein tyrosine kinase", "HYL tyrosine kinase", "tyrosine kinase MATK", "leukocyte carboxyl-terminal src kinase related"	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.244G>A	19.37:g.3784338C>T	ENSP00000308734:p.Glu82Lys					MATK_ENST00000395040.2_Missense_Mutation_p.E41K|MATK_ENST00000585778.1_Missense_Mutation_p.E82K|MATK_ENST00000395045.2_Missense_Mutation_p.E83K	p.E82K	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	4	642	-		Hepatocellular(1079;0.137)	82			SH3.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.244G>A	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	c	11.44	1.640669	0.29157	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	T;T;T	0.52295	0.67;0.67;0.67	4.81	4.81	0.61882	Src homology-3 domain (4);	0.378221	0.26623	N	0.023343	T	0.44623	0.1302	L	0.60012	1.86	0.32424	N	0.548948	P;P;P	0.51449	0.945;0.945;0.945	B;B;B	0.42245	0.381;0.381;0.381	T	0.59306	-0.7479	10	0.34782	T	0.22	-36.7134	12.7385	0.57238	0.0:0.8347:0.1653:0.0	.	82;83;82	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	K	83;82;41	ENSP00000378485:E83K;ENSP00000308734:E82K;ENSP00000378481:E41K	ENSP00000308734:E82K	E	-	1	0	MATK	3735338	0.196000	0.23350	0.976000	0.42696	0.316000	0.28119	0.572000	0.23684	2.219000	0.72066	0.457000	0.33378	GAG		0.697	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		6	3	0	0	0	1	0	6	3					T	3784338	C	T	3784338	3	4	435	1	0	0	0	0	1	0	0	0	9332	893	31	2	1323	2	MATK	19	3784338	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6029	3784338	55344645	7917	28842											
ZFR2	23217	broad.mit.edu	37	chr19	3833723	3833723	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcagcagactggaagtaCggcctgtcctcatagctcct	9	8	12	12	1	1	1	1	0	0	1	3	2	3	2	3	3	3	4	3	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3833723C>T	ENST00000262961.4	-	3	328	c.318G>A	c.(316-318)ccG>ccA	p.P106P	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	106							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		ACTGGAAGTACGGCCTGTCCT	0.622																																						ENST00000262961.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16						c.(316-318)ccG>ccA		zinc finger RNA binding protein 2							38	46	43					19																	3833723		2198	4294	6492	SO:0001819	synonymous_variant	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3833723C>T	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.318G>A	19.37:g.3833723C>T						ZFR2_ENST00000591965.1_5'UTR	p.P106P	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	3	328	-			106						Silent	SNP	ENST00000262961.4	37	c.318G>A	CCDS45921.1																																																																																				0.622	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		4	8	0	0	0	1	0	4	8					T	3833723	C	T	3833723	2	4	435	1	0	0	0	0	0	0	0	1	17657	523	19	1		1	ZFR2	19	3833723	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	49385	3833723	55295260	7918	28843											
DAPK3	1613	broad.mit.edu	37	chr19	3964791	3964791	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggatgaggaccacgtcCgtcttgttctcgaagatgtc	8	11	11	11	3	2	2	0	1	2	1	6	5	4	4	3	2	0	1	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3964791C>T	ENST00000545797.2	-	3	504	c.261G>A	c.(259-261)acG>acA	p.T87T	DAPK3_ENST00000301264.3_Silent_p.T87T			O43293	DAPK3_HUMAN	death-associated protein kinase 3	87	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			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)		GGACCACGTCCGTCTTGTTCT	0.622																																						ENST00000545797.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21						c.(259-261)acG>acA		death-associated protein kinase 3							112	111	111					19																	3964791		2203	4300	6503	SO:0001819	synonymous_variant	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964791C>T	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.261G>A	19.37:g.3964791C>T						DAPK3_ENST00000301264.3_Silent_p.T87T	p.T87T			O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	3	504	-		Hepatocellular(1079;0.137)	87			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Silent	SNP	ENST00000545797.2	37	c.261G>A	CCDS12116.1																																																																																				0.622	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		8	40	0	0	0	1	0	8	40					T	3964791	C	T	3964791	2	4	435	1	0	0	0	0	0	0	0	1	4237	639	23	2		2	DAPK3	19	3964791	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	131068	3964791	55164192	7919	28844											
PIAS4	51588	broad.mit.edu	37	chr19	4013216	4013216	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcaggccccaatattgactAccccgtgctctacggaaagt	10	8	10	13	2	1	1	0	1	1	0	1	2	1	2	4	3	3	2	4	3	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4013216A>G	ENST00000262971.2	+	2	438	c.323A>G	c.(322-324)tAc>tGc	p.Y108C		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	108					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AATATTGACTACCCCGTGCTC	0.627																																						ENST00000262971.2																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.(322-324)tAc>tGc		protein inhibitor of activated STAT, 4							56	63	60					19																	4013216		2203	4300	6503	SO:0001583	missense	51588				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	g.chr19:4013216A>G	AF077952	CCDS12118.1	19p13.3	2011-10-11						"Zinc fingers, MIZ-type"	17002	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 6"	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.323A>G	19.37:g.4013216A>G	ENSP00000262971:p.Tyr108Cys						p.Y108C	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	2	438	+			108					O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.323A>G	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.115763	0.56505	.	.	ENSG00000105229	ENST00000262971	T	0.31510	1.49	5.14	4.09	0.47781	.	0.264599	0.38272	N	0.001759	T	0.33265	0.0857	N	0.22421	0.69	0.39356	D	0.965839	D	0.64830	0.994	P	0.57911	0.829	T	0.10177	-1.0641	10	0.49607	T	0.09	-25.7961	10.2637	0.43443	0.8517:0.0:0.0:0.1483	.	108	Q8N2W9	PIAS4_HUMAN	C	108	ENSP00000262971:Y108C	ENSP00000262971:Y108C	Y	+	2	0	PIAS4	3964216	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.899000	0.48679	0.742000	0.32697	0.459000	0.35465	TAC		0.627	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		21	35	0	0	0	1	0	21	35					G	4013216	A	G	4013216	3	3	435	1	0	0	0	0	1	0	0	0	11878	391	14	4	329	4	PIAS4	19	4013216	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	48425	4013216	55115767	7920	28845											
PIAS4	51588	broad.mit.edu	37	chr19	4037780	4037780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcctcggaggatgaggaGgaggaggaagaggaggagga	12	4	21	4	2	0	2	0	1	0	1	3	11	1	11	1	9	0	0	1	9	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4037780G>T	ENST00000262971.2	+	11	1555	c.1440G>T	c.(1438-1440)gaG>gaT	p.E480D		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	480	Asp/Glu-rich (acidic).				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		aggatgaggaggaggaggaag	0.706																																						ENST00000262971.2																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.(1438-1440)gaG>gaT		protein inhibitor of activated STAT, 4							16	15	16					19																	4037780		2184	4274	6458	SO:0001583	missense	51588				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	g.chr19:4037780G>T	AF077952	CCDS12118.1	19p13.3	2011-10-11						"Zinc fingers, MIZ-type"	17002	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 6"	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1440G>T	19.37:g.4037780G>T	ENSP00000262971:p.Glu480Asp						p.E480D	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1555	+			480			Asp/Glu-rich (acidic).		O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.1440G>T	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	g	0.009	-1.846580	0.00568	.	.	ENSG00000105229	ENST00000262971	T	0.30981	1.51	4.34	-0.898	0.10550	.	0.271819	0.28784	N	0.014152	T	0.11410	0.0278	N	0.12182	0.205	0.20489	N	0.999899	B	0.02656	0.0	B	0.01281	0.0	T	0.24225	-1.0166	10	0.13470	T	0.59	-13.4985	3.9091	0.09196	0.0969:0.4387:0.3045:0.1598	.	480	Q8N2W9	PIAS4_HUMAN	D	480	ENSP00000262971:E480D	ENSP00000262971:E480D	E	+	3	2	PIAS4	3988780	0.859000	0.29813	0.033000	0.17914	0.133000	0.20885	-0.141000	0.10327	-0.385000	0.07833	0.466000	0.42574	GAG		0.706	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		3	7	1	0	1	1	1	3	7					T	4037780	G	T	4037780	3	4	435	1	0	0	0	0	1	0	0	0	11878	991	35	5	1482	5	PIAS4	19	4037780	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24564	4037780	55091203	7921	28846											
ZBTB7A	51341	broad.mit.edu	37	chr19	4048173	4048173	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttgtgggcaaaggcggcGccgcactgctggcacaggta	8	7	16	10	3	0	0	0	0	0	0	0	0	0	0	1	5	1	6	1	5	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4048173G>A	ENST00000322357.4	-	3	1610	c.1332C>T	c.(1330-1332)ggC>ggT	p.G444G	ZBTB7A_ENST00000601588.1_Silent_p.G444G	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	444					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAGGCGGCGCCGCACTGCT	0.662																																						ENST00000322357.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(1330-1332)ggC>ggT		zinc finger and BTB domain containing 7A							68	68	68					19																	4048173		2203	4300	6503	SO:0001819	synonymous_variant	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4048173G>A	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18078	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein", "lymphoma related factor"	605878	"zinc finger and BTB domain containing 7"	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1332C>T	19.37:g.4048173G>A						ZBTB7A_ENST00000601588.1_Silent_p.G444G	p.G444G	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1610	-		Hepatocellular(1079;0.137)	444					D6W619|O00456|Q14D41|Q5XG86	Silent	SNP	ENST00000322357.4	37	c.1332C>T	CCDS12119.1																																																																																				0.662	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		17	15	0	0	0	1	0	17	15					A	4048173	G	A	4048173	2	1	435	1	0	0	0	0	0	0	0	1	17550	1074	38	1		1	ZBTB7A	19	4048173	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10393	4048173	55080810	7922	28847											
MAP2K2	5605	broad.mit.edu	37	chr19	4110567	4110567	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggccccgtagaagcccacGatgtacggcgagttgcattc	10	7	12	12	4	0	1	0	0	0	1	1	3	0	1	3	2	3	4	3	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4110567G>A	ENST00000262948.5	-	3	643	c.390C>T	c.(388-390)atC>atT	p.I130I	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Silent_p.I33I	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	130	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						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)	Bosutinib(DB06616)|Trametinib(DB08911)	AGAAGCCCACGATGTACGGCG	0.617																																						ENST00000262948.5																			0											c.(388-390)atC>atT		mitogen-activated protein kinase kinase 2							92	77	82					19																	4110567		2203	4300	6503	SO:0001819	synonymous_variant	5605				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	g.chr19:4110567G>A	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.390C>T	19.37:g.4110567G>A						MAP2K2_ENST00000394867.4_Silent_p.I33I|MAP2K2_ENST00000599345.1_5'UTR	p.I130I	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	3	643	-		Hepatocellular(1079;0.137)	130			Protein kinase.			Silent	SNP	ENST00000262948.5	37	c.390C>T	CCDS12120.1																																																																																				0.617	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2			10	25	0	0	0	1	0	10	25					A	4110567	G	A	4110567	2	1	435	1	0	0	0	0	0	0	0	1	9237	1048	37	2		2	MAP2K2	19	4110567	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62394	4110567	55018416	7923	28848											
SIRT6	51548	broad.mit.edu	37	chr19	4174911	4174911	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggtcatgacctcgtcaacGtagccatggatgcggaggtc	8	8	14	11	4	2	1	2	1	0	0	4	3	2	3	2	4	3	1	2	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4174911G>A	ENST00000337491.2	-	8	835	c.771C>T	c.(769-771)taC>taT	p.Y257Y	SIRT6_ENST00000381935.3_Silent_p.Y185Y|SIRT6_ENST00000601488.1_Missense_Mutation_p.T183M|SIRT6_ENST00000305232.6_Silent_p.Y230Y|SIRT6_ENST00000594279.1_Missense_Mutation_p.T172M	NM_016539.2	NP_057623.2	Q8N6T7	SIR6_HUMAN	sirtuin 6	257	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|protein ADP-ribosylation (GO:0006471)|regulation of double-strand break repair via homologous recombination (GO:0010569)	nuclear telomeric heterochromatin (GO:0005724)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGTCAACGTAGCCATGGA	0.711																																						ENST00000594279.1																			0				central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8						c.(514-516)aCg>aTg		sirtuin 6							23	20	21					19																	4174911		2192	4282	6474	SO:0001819	synonymous_variant	51548				chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr19:4174911G>A	AF233396	CCDS12122.1, CCDS54199.1	19p13.3	2010-06-25	2010-06-25			ENSG00000077463			14934	protein-coding gene	gene with protein product		606211	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6", "sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)"			10873683	Standard	NM_016539		Approved		uc002lzo.3	Q8N6T7		ENST00000337491.2:c.771C>T	19.37:g.4174911G>A						SIRT6_ENST00000381935.3_Silent_p.Y185Y|SIRT6_ENST00000337491.2_Silent_p.Y257Y|SIRT6_ENST00000305232.6_Silent_p.Y230Y|SIRT6_ENST00000601488.1_Missense_Mutation_p.T183M	p.T172M			Q8N6T7	SIRT6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)	8	733	-		Hepatocellular(1079;0.137)	0			Deacetylase sirtuin-type.		B2RCD0|O75291|Q6IAF5|Q6PK99|Q8NCD2|Q9BSI5|Q9BWP3|Q9NRC7|Q9UQD1	Missense_Mutation	SNP	ENST00000337491.2	37	c.515C>T	CCDS12122.1																																																																																				0.711	SIRT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457931.2			8	30	0	0	0	1	0	8	30					A	4174911	G	A	4174911	2	1	435	1	0	0	0	0	0	0	0	1	14342	1140	40	1		1	SIRT6	19	4174911	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	64344	4174911	54954072	7924	28849											
EBI3	10148	broad.mit.edu	37	chr19	4234688	4234688	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgaccctccagaaggcgTgcgcctaagccccctcgctg	6	5	11	19	4	0	1	0	0	0	1	2	2	1	1	6	1	2	1	6	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4234688T>G	ENST00000221847.5	+	4	457	c.404T>G	c.(403-405)gTg>gGg	p.V135G		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	135	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		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)		CCAGAAGGCGTGCGCCTAAGC	0.577																																						ENST00000221847.5																			0				large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(403-405)gTg>gGg		Epstein-Barr virus induced 3							89	99	96					19																	4234688		2203	4300	6503	SO:0001583	missense	10148				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	g.chr19:4234688T>G	L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"Fibronectin type III domain containing"	3129	protein-coding gene	gene with protein product	"IL27 subunit", "IL35 subunit"	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.404T>G	19.37:g.4234688T>G	ENSP00000221847:p.Val135Gly						p.V135G	NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)	4	457	+		Hepatocellular(1079;0.137)	135			Fibronectin type-III 2.		A0N0N2|O75269	Missense_Mutation	SNP	ENST00000221847.5	37	c.404T>G	CCDS12123.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.703050	0.30232	.	.	ENSG00000105246	ENST00000221847	T	0.61274	0.12	4.11	4.11	0.48088	Long hematopoietin receptor, soluble alpha chain, conserved site (1);Fibronectin, type III (5);Immunoglobulin-like fold (1);	0.229700	0.35067	N	0.003480	T	0.73393	0.3581	M	0.83774	2.66	0.25300	N	0.989283	D	0.63880	0.993	D	0.65874	0.939	T	0.66148	-0.5996	10	0.87932	D	0	-9.593	9.5623	0.39378	0.0:0.0:0.0:1.0	.	135	Q14213	IL27B_HUMAN	G	135	ENSP00000221847:V135G	ENSP00000221847:V135G	V	+	2	0	EBI3	4185688	0.891000	0.30450	0.039000	0.18376	0.041000	0.13682	2.546000	0.45778	1.764000	0.52075	0.449000	0.29647	GTG		0.577	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1			29	49	0	0	0	1	0	29	49					G	4234688	T	G	4234688	3	3	435	1	0	0	0	0	1	0	0	0	4883	1696	59	5	418	5	EBI3	19	4234688	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	59777	4234688	54894295	7925	28850											
SHD	56961	broad.mit.edu	37	chr19	4288303	4288303	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccctctgcaaggaaggCagctacctagtgcggctcag	8	8	12	13	1	2	0	1	0	1	0	3	1	3	1	2	3	4	4	2	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4288303C>T	ENST00000543264.2	+	5	2243	c.780C>T	c.(778-780)ggC>ggT	p.G260G	SHD_ENST00000600475.1_3'UTR|SHD_ENST00000599689.1_Intron	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	260	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAAGGAAGGCAGCTACCTAG	0.577																																						ENST00000543264.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14						c.(778-780)ggC>ggT		Src homology 2 domain containing transforming protein D							95	80	85					19																	4288303		2203	4300	6503	SO:0001819	synonymous_variant	56961							g.chr19:4288303C>T	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"SH2 domain containing"	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.780C>T	19.37:g.4288303C>T						SHD_ENST00000600475.1_3'UTR|SHD_ENST00000599689.1_Intron	p.G260G	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	5	2243	+			260			SH2.		Q96NC2	Silent	SNP	ENST00000543264.2	37	c.780C>T	CCDS12125.1																																																																																				0.577	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		12	29	0	0	0	1	0	12	29					T	4288303	C	T	4288303	2	4	435	1	0	0	0	0	0	0	0	1	14275	697	25	3		3	SHD	19	4288303	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	53615	4288303	54840680	7926	28851											
SHD	56961	broad.mit.edu	37	chr19	4288329	4288329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctagtgcggctcagtgagaCcaacccccaggactgctcct	8	7	10	16	1	1	1	1	1	0	1	2	3	2	2	5	2	3	2	5	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4288329C>T	ENST00000543264.2	+	5	2269	c.806C>T	c.(805-807)aCc>aTc	p.T269I	SHD_ENST00000599689.1_Intron	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	269	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAGTGAGACCAACCCCCAG	0.567																																						ENST00000543264.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14						c.(805-807)aCc>aTc		Src homology 2 domain containing transforming protein D							81	68	72					19																	4288329		2203	4300	6503	SO:0001583	missense	56961							g.chr19:4288329C>T	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"SH2 domain containing"	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.806C>T	19.37:g.4288329C>T	ENSP00000446058:p.Thr269Ile					SHD_ENST00000599689.1_Intron	p.T269I	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	5	2269	+			269			SH2.		Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	c.806C>T	CCDS12125.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347951	0.82022	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	T	0.66280	-0.2	5.02	3.98	0.46160	SH2 motif (5);	0.058947	0.64402	D	0.000003	T	0.80253	0.4589	M	0.87328	2.875	0.39000	D	0.959335	P	0.36633	0.562	P	0.57057	0.812	D	0.84179	0.0438	10	0.87932	D	0	-20.9399	13.266	0.60133	0.0:0.8394:0.1605:0.0	.	269	Q96IW2	SHD_HUMAN	I	269;184	ENSP00000446058:T269I	ENSP00000221852:T184I	T	+	2	0	SHD	4239329	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.547000	0.53663	1.342000	0.45619	0.555000	0.69702	ACC		0.567	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		6	27	0	0	0	1	0	6	27					T	4288329	C	T	4288329	3	4	435	1	0	0	0	0	1	0	0	0	14275	507	18	3	824	3	SHD	19	4288329	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26	4288329	54840654	7927	28852											
TMIGD2	126259	broad.mit.edu	37	chr19	4292775	4292775	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccggttgcgggaaggaggTtgaataaatgctctggcccc	8	8	16	9	2	1	1	0	1	1	0	1	3	1	3	3	6	2	3	3	6	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4292775T>A	ENST00000301272.2	-	5	715	c.670A>T	c.(670-672)Acc>Tcc	p.T224S	TMIGD2_ENST00000600349.1_Missense_Mutation_p.T52S|TMIGD2_ENST00000600114.1_Missense_Mutation_p.T104S|TMIGD2_ENST00000595645.1_Missense_Mutation_p.T220S	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	224					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			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)		GGGAAGGAGGTTGAATAAATG	0.677																																						ENST00000301272.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19						c.(670-672)Acc>Tcc		transmembrane and immunoglobulin domain containing 2							34	40	38					19																	4292775		2203	4300	6503	SO:0001583	missense	126259					integral to membrane		g.chr19:4292775T>A	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.670A>T	19.37:g.4292775T>A	ENSP00000301272:p.Thr224Ser					TMIGD2_ENST00000600349.1_Missense_Mutation_p.T52S|TMIGD2_ENST00000595645.1_Missense_Mutation_p.T220S|TMIGD2_ENST00000600114.1_Missense_Mutation_p.T104S	p.T224S	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	5	715	-			224					Q6UW59	Missense_Mutation	SNP	ENST00000301272.2	37	c.670A>T	CCDS12126.1	.	.	.	.	.	.	.	.	.	.	T	9.703	1.155025	0.21371	.	.	ENSG00000167664	ENST00000301272	T	0.33438	1.41	3.04	-0.6	0.11642	.	.	.	.	.	T	0.14141	0.0342	N	0.14661	0.345	0.09310	N	1	P;P	0.50819	0.939;0.9	P;B	0.45474	0.482;0.289	T	0.08973	-1.0696	9	0.07030	T	0.85	.	3.246	0.06797	0.0:0.2547:0.2138:0.5315	.	220;224	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	S	224	ENSP00000301272:T224S	ENSP00000301272:T224S	T	-	1	0	TMIGD2	4243775	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.085000	0.11250	-0.339000	0.08401	0.454000	0.30748	ACC		0.677	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		13	42	0	0	0	1	0	13	42					A	4292775	T	A	4292775	3	1	435	1	0	0	0	0	1	0	0	0	16228	1725	60	5	182	5	TMIGD2	19	4292775	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	4446	4292775	54836208	7928	28853											
FSD1	79187	broad.mit.edu	37	chr19	4323367	4323367	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctgtccttctacaatgcCcgcaccaaacaagtgctgca	10	9	6	16	1	1	0	0	0	1	0	3	0	3	0	4	0	5	3	4	0	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4323367C>T	ENST00000221856.6	+	12	1461	c.1314C>T	c.(1312-1314)gcC>gcT	p.A438A	STAP2_ENST00000597593.1_5'Flank|FSD1_ENST00000597590.1_Missense_Mutation_p.P408L	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	438	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTACAATGCCCGCACCAAAC	0.652																																						ENST00000597590.1																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1222-1224)cCc>cTc		fibronectin type III and SPRY domain containing 1							61	56	58					19																	4323367		2203	4300	6503	SO:0001819	synonymous_variant	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4323367C>T	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"Fibronectin type III domain containing"	13745	protein-coding gene	gene with protein product		609828	"fibronectin type 3 and SPRY domain containing 1"			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.1314C>T	19.37:g.4323367C>T						FSD1_ENST00000221856.6_Silent_p.A438A	p.P408L			Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1294	+			406			B30.2/SPRY.		B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	ENST00000221856.6	37	c.1223C>T	CCDS12127.1																																																																																				0.652	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333		11	18	0	0	0	1	0	11	18					T	4323367	C	T	4323367	2	4	435	1	0	0	0	0	0	0	0	1	6070	610	22	3		3	FSD1	19	4323367	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30592	4323367	54805616	7929	28854											
STAP2	55620	broad.mit.edu	37	chr19	4327199	4327199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacacgaaatagttgaccaCggcgtccagggaggtgcaag	12	5	14	10	4	0	1	0	1	0	0	1	4	1	2	2	3	1	2	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4327199C>T	ENST00000594605.1	-	8	808	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	STAP2_ENST00000600324.1_Missense_Mutation_p.V229M|STAP2_ENST00000597593.1_5'UTR	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	229	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.V229M(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGTTGACCACGGCGTCCAGG	0.592																																						ENST00000600324.1																			1	Substitution - Missense(1)	p.V229M(1)	endometrium(1)	central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23						c.(685-687)Gtg>Atg		signal transducing adaptor family member 2							77	74	75					19																	4327199		2203	4300	6503	SO:0001583	missense	55620					cytoplasm|nucleus	protein binding	g.chr19:4327199C>T	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.685G>A	19.37:g.4327199C>T	ENSP00000471052:p.Val229Met					STAP2_ENST00000594605.1_Missense_Mutation_p.V229M|STAP2_ENST00000597593.1_5'UTR	p.V229M	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	8	752	-		Hepatocellular(1079;0.137)	229			SH2.		A6NKK3|Q9NXI2	Missense_Mutation	SNP	ENST00000594605.1	37	c.685G>A	CCDS45926.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428795	0.83667	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	5.09	5.09	0.68999	SH2 motif (3);	0.000000	0.85682	D	0.000000	T	0.78811	0.4342	M	0.77103	2.36	0.49299	D	0.999778	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81636	-0.0843	9	0.87932	D	0	-4.5277	14.0304	0.64613	0.0:1.0:0.0:0.0	.	229;229	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	M	229	.	ENSP00000317912:V229M	V	-	1	0	STAP2	4278199	0.952000	0.32445	0.861000	0.33841	0.672000	0.39443	3.044000	0.49830	2.377000	0.81083	0.555000	0.69702	GTG		0.592	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841		23	30	0	0	0	1	0	23	30					T	4327199	C	T	4327199	3	4	435	1	0	0	0	0	1	0	0	0	15252	536	19	1	688	1	STAP2	19	4327199	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3832	4327199	54801784	7930	28855											
CHAF1A	10036	broad.mit.edu	37	chr19	4433428	4433428	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaaagaggacagtggcagCgtcccctccacggggcccag	9	3	13	16	2	0	1	0	0	0	1	2	2	2	2	5	4	1	1	5	4	1	0	rs368694193		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4433428C>T	ENST00000301280.5	+	13	2666	c.2565C>T	c.(2563-2565)agC>agT	p.S855S	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	855	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGTGGCAGCGTCCCCTCCA	0.642								Chromatin Structure																														ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(2563-2565)agC>agT	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)		C		0,4406		0,0,2203	41	42	42		2565	-6.6	0	19		42	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	CHAF1A	NM_005483.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		855/957	4433428	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	10036				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	g.chr19:4433428C>T	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2565C>T	19.37:g.4433428C>T							p.S855S	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	13	2666	+		Hepatocellular(1079;0.137)	855			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Silent	SNP	ENST00000301280.5	37	c.2565C>T	CCDS32875.1																																																																																				0.642	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		21	33	0	0	0	1	0	21	33					T	4433428	C	T	4433428	2	4	435	1	0	0	0	0	0	0	0	1	3311	767	27	1		1	CHAF1A	19	4433428	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	106229	4433428	54695555	7931	28856											
UBXN6	80700	broad.mit.edu	37	chr19	4454004	4454004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccgggctagggcggcaGcggctgccatctgtgcctca	5	6	15	15	3	2	0	1	0	1	0	2	0	2	0	4	4	4	3	4	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4454004G>A	ENST00000301281.6	-	2	294	c.170C>T	c.(169-171)gCt>gTt	p.A57V	UBXN6_ENST00000394765.3_Missense_Mutation_p.A4V|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	57						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TAGGGCGGCAGCGGCTGCCAT	0.682																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(169-171)gCt>gTt		UBX domain protein 6							68	85	79					19																	4454004		2203	4299	6502	SO:0001583	missense	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4454004G>A	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.170C>T	19.37:g.4454004G>A	ENSP00000301281:p.Ala57Val					UBXN6_ENST00000394765.3_Missense_Mutation_p.A4V	p.A57V	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			2	294	-			57					D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	37	c.170C>T	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690347	0.88735	.	.	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.33865	1.78;1.39	4.24	4.24	0.50183	.	0.000000	0.85682	U	0.000000	T	0.62060	0.2397	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.87578	0.998;0.651	T	0.68191	-0.5474	10	0.56958	D	0.05	-10.0983	15.6441	0.77033	0.0:0.0:1.0:0.0	.	4;57	Q9BZV1-2;Q9BZV1	.;UBXN6_HUMAN	V	57;4	ENSP00000301281:A57V;ENSP00000378246:A4V	ENSP00000301281:A57V	A	-	2	0	UBXN6	4405004	1.000000	0.71417	0.035000	0.18076	0.886000	0.51366	8.652000	0.91083	1.915000	0.55452	0.491000	0.48974	GCT		0.682	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		36	61	0	0	0	1	0	36	61					A	4454004	G	A	4454004	3	1	435	1	0	0	0	0	1	0	0	0	16914	971	34	3	1195	3	UBXN6	19	4454004	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20576	4454004	54674979	7932	28857											
LRG1	116844	broad.mit.edu	37	chr19	4538169	4538169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggatgcccagagcccctcgGgcacgctggccagtgagtta	7	6	15	13	2	0	2	0	1	0	1	1	3	0	3	4	3	2	3	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4538169G>A	ENST00000306390.6	-	2	1287	c.827C>T	c.(826-828)cCc>cTc	p.P276L	LRG1_ENST00000586883.1_5'Flank|PLIN5_ENST00000381848.3_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron|PLIN5_ENST00000586133.1_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	276					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				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)		GAGCCCCTCGGGCACGCTGGC	0.642																																						ENST00000306390.6																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(826-828)cCc>cTc		leucine-rich alpha-2-glycoprotein 1							74	72	73					19																	4538169		2203	4300	6503	SO:0001583	missense	116844					extracellular region|membrane		g.chr19:4538169G>A		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"leucine rich alpha 2 glycoprotein"	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.827C>T	19.37:g.4538169G>A	ENSP00000302621:p.Pro276Leu					CTB-50L17.14_ENST00000586020.1_Intron	p.P276L	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1287	-		Hepatocellular(1079;0.137)	276					Q8N4F5|Q96QZ4	Missense_Mutation	SNP	ENST00000306390.6	37	c.827C>T	CCDS12130.1	.	.	.	.	.	.	.	.	.	.	.	34	5.386298	0.95967	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02472	4.28	5.24	4.2	0.49525	.	0.000000	0.40469	N	0.001098	T	0.18800	0.0451	M	0.93808	3.46	0.39491	D	0.968042	D	0.89917	1.0	D	0.79108	0.992	T	0.01951	-1.1241	10	0.59425	D	0.04	-44.366	9.5181	0.39117	0.0957:0.0:0.9043:0.0	.	276	P02750	A2GL_HUMAN	L	276;259	ENSP00000302621:P276L	ENSP00000302621:P276L	P	-	2	0	LRG1	4489169	1.000000	0.71417	0.028000	0.17463	0.846000	0.48090	5.330000	0.65899	1.435000	0.47434	0.655000	0.94253	CCC		0.642	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		30	42	0	0	0	1	0	30	42					A	4538169	G	A	4538169	3	1	435	1	0	0	0	0	1	0	0	0	8942	1232	43	3	220	3	LRG1	19	4538169	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	84165	4538169	54590814	7933	28858											
DPP9	91039	broad.mit.edu	37	chr19	4704219	4704219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaagaggccactctcgCtgtggaagtcgtaggaggtg	10	7	17	7	2	1	2	0	0	1	2	3	5	1	5	1	5	0	2	1	5	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4704219C>T	ENST00000598800.1	-	7	942	c.437G>A	c.(436-438)aGc>aAc	p.S146N	DPP9_ENST00000597849.1_Missense_Mutation_p.S175N|DPP9_ENST00000594671.1_Missense_Mutation_p.S146N|DPP9_ENST00000262960.9_Missense_Mutation_p.S175N			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	146						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCCACTCTCGCTGTGGAAGTC	0.652																																						ENST00000262960.9																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(523-525)aGc>aAc		dipeptidyl-peptidase 9							56	68	64					19																	4704219		2071	4196	6267	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4704219C>T	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"dipeptidylpeptidase 9"				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.437G>A	19.37:g.4704219C>T	ENSP00000469603:p.Ser146Asn					DPP9_ENST00000597849.1_Missense_Mutation_p.S175N|DPP9_ENST00000594671.1_Missense_Mutation_p.S146N|DPP9_ENST00000598800.1_Missense_Mutation_p.S146N	p.S175N	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	6	801	-		Hepatocellular(1079;0.137)	146					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.524G>A		.	.	.	.	.	.	.	.	.	.	C	6.931	0.541423	0.13250	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.30714	1.52	4.5	3.43	0.39272	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.151980	0.64402	D	0.000018	T	0.32526	0.0832	L	0.46157	1.445	0.35797	D	0.822819	B;B	0.31705	0.336;0.166	B;B	0.39027	0.288;0.139	T	0.44329	-0.9335	10	0.44086	T	0.13	-31.6673	13.4805	0.61332	0.0:0.8419:0.1581:0.0	.	146;175	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	N	254;116;175	ENSP00000262960:S175N	ENSP00000262960:S175N	S	-	2	0	DPP9	4655219	0.724000	0.28038	0.900000	0.35374	0.045000	0.14185	1.895000	0.39778	1.065000	0.40693	0.561000	0.74099	AGC		0.652	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			28	36	0	0	0	1	0	28	36					T	4704219	C	T	4704219	3	4	435	1	0	0	0	0	1	0	0	0	4733	797	28	3	2222	3	DPP9	19	4704219	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	166050	4704219	54424764	7934	28859											
KDM4B	23030	broad.mit.edu	37	chr19	5039901	5039901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtatgatgacatcgacgacGtggtgatcccggcgcccatc	8	8	12	13	6	0	3	0	3	0	0	3	5	1	3	2	2	0	1	2	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5039901G>A	ENST00000159111.4	+	4	414	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	KDM4B_ENST00000536461.1_Missense_Mutation_p.V66M|KDM4B_ENST00000381759.4_Missense_Mutation_p.V66M	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	66					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CATCGACGACGTGGTGATCCC	0.612																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(196-198)Gtg>Atg		lysine (K)-specific demethylase 4B							81	77	78					19																	5039901		2203	4300	6503	SO:0001583	missense	23030				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	g.chr19:5039901G>A	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.196G>A	19.37:g.5039901G>A	ENSP00000159111:p.Val66Met					KDM4B_ENST00000536461.1_Missense_Mutation_p.V66M|KDM4B_ENST00000381759.4_Missense_Mutation_p.V66M	p.V66M	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			4	414	+			66					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.196G>A	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	G	9.042	0.989899	0.18966	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.46819	0.86;0.86;0.86	4.04	3.0	0.34707	.	0.052972	0.64402	D	0.000001	T	0.16685	0.0401	N	0.02685	-0.53	0.36302	D	0.857108	B;B;B	0.28820	0.224;0.056;0.143	B;B;B	0.19148	0.024;0.011;0.011	T	0.11421	-1.0588	10	0.27082	T	0.32	-36.8251	3.7518	0.08569	0.3562:0.0:0.6438:0.0	.	66;66;66	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	M	66	ENSP00000159111:V66M;ENSP00000371178:V66M;ENSP00000440495:V66M	ENSP00000159111:V66M	V	+	1	0	KDM4B	4990901	0.904000	0.30761	1.000000	0.80357	0.778000	0.44026	1.614000	0.36911	2.240000	0.73641	0.462000	0.41574	GTG		0.612	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		20	36	0	0	0	1	0	20	36					A	5039901	G	A	5039901	3	1	435	1	0	0	0	0	1	0	0	0	8129	1145	40	1	202	1	KDM4B	19	5039901	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	335682	5039901	54089082	7935	28860											
KDM4B	23030	broad.mit.edu	37	chr19	5047489	5047489	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgccgccccacaggaCgtggcccagtggaacatcgg	7	6	13	15	3	1	0	0	0	1	0	2	2	1	2	4	4	3	1	4	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5047489C>T	ENST00000159111.4	+	6	653	c.435C>T	c.(433-435)gaC>gaT	p.D145D	KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Silent_p.D145D|KDM4B_ENST00000381759.4_Silent_p.D145D	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	145					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCCCACAGGACGTGGCCCAGT	0.677																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(433-435)gaC>gaT		lysine (K)-specific demethylase 4B							41	39	39					19																	5047489		2203	4300	6503	SO:0001819	synonymous_variant	23030				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	g.chr19:5047489C>T	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.435C>T	19.37:g.5047489C>T						KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Silent_p.D145D|KDM4B_ENST00000381759.4_Silent_p.D145D	p.D145D	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			6	653	+			145					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	c.435C>T	CCDS12138.1																																																																																				0.677	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		18	13	0	0	0	1	0	18	13					T	5047489	C	T	5047489	2	4	435	1	0	0	0	0	0	0	0	1	8129	535	19	1		1	KDM4B	19	5047489	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7588	5047489	54081494	7936	28861											
KDM4B	23030	broad.mit.edu	37	chr19	5135490	5135490	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcggtgagaacacggagccGctgcctgccaactcctacat	9	6	12	14	3	0	1	0	1	0	1	1	3	1	2	4	3	6	1	4	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5135490G>A	ENST00000159111.4	+	15	2444	c.2226G>A	c.(2224-2226)ccG>ccA	p.P742P	KDM4B_ENST00000536461.1_Silent_p.P776P	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	742					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ACACGGAGCCGCTGCCTGCCA	0.642																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(2224-2226)ccG>ccA		lysine (K)-specific demethylase 4B							52	43	46					19																	5135490		2203	4300	6503	SO:0001819	synonymous_variant	23030				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	g.chr19:5135490G>A	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2226G>A	19.37:g.5135490G>A						KDM4B_ENST00000536461.1_Silent_p.P776P	p.P742P	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			15	2444	+			742					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	c.2226G>A	CCDS12138.1																																																																																				0.642	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		6	7	0	0	0	1	0	6	7					A	5135490	G	A	5135490	2	1	435	1	0	0	0	0	0	0	0	1	8129	1074	38	1		1	KDM4B	19	5135490	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	88001	5135490	53993493	7937	28862											
PTPRS	5802	broad.mit.edu	37	chr19	5208351	5208351	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgactttggcacaccctGttccggccagtctgtgaact	6	10	9	16	2	1	1	0	1	1	0	2	2	2	1	5	2	1	2	5	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5208351G>A	ENST00000587303.1	-	35	5638	c.5539C>T	c.(5539-5541)Cag>Tag	p.Q1847*	PTPRS_ENST00000262963.6_Nonsense_Mutation_p.Q1827*|PTPRS_ENST00000588012.1_Nonsense_Mutation_p.Q1809*|PTPRS_ENST00000592099.1_Nonsense_Mutation_p.Q1400*|PTPRS_ENST00000372412.4_Nonsense_Mutation_p.Q1848*|PTPRS_ENST00000348075.2_Nonsense_Mutation_p.Q1809*|PTPRS_ENST00000353284.2_Nonsense_Mutation_p.Q1400*|PTPRS_ENST00000357368.4_Nonsense_Mutation_p.Q1847*|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1847	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGCACACCCTGTTCCGGCCAG	0.582																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(5542-5544)Cag>Tag		protein tyrosine phosphatase, receptor type, S							82	70	74					19																	5208351		2203	4300	6503	SO:0001587	stop_gained	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5208351G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5539C>T	19.37:g.5208351G>A	ENSP00000467537:p.Gln1847*					PTPRS_ENST00000588012.1_Nonsense_Mutation_p.Q1809*|PTPRS_ENST00000587303.1_Nonsense_Mutation_p.Q1847*|PTPRS_ENST00000592099.1_Nonsense_Mutation_p.Q1400*|PTPRS_ENST00000348075.2_Nonsense_Mutation_p.Q1809*|PTPRS_ENST00000262963.6_Nonsense_Mutation_p.Q1827*|PTPRS_ENST00000357368.4_Nonsense_Mutation_p.Q1847*|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Nonsense_Mutation_p.Q1400*	p.Q1848*			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	36	5775	-			1847			Tyrosine-protein phosphatase 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Nonsense_Mutation	SNP	ENST00000587303.1	37	c.5542C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	g	46	12.494371	0.99672	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	.	.	.	2.72	2.72	0.32119	.	0.088208	0.47093	U	0.000259	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.8932	0.58084	0.0:0.0:1.0:0.0	.	.	.	.	X	1442;1848;1847;1847;1838;1827;1809;1429;1404;1400	.	ENSP00000262963:Q1827X	Q	-	1	0	PTPRS	5159351	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	7.463000	0.80869	1.553000	0.49476	0.466000	0.42574	CAG		0.582	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			7	31	0	0	0	1	0	7	31					A	5208351	G	A	5208351	4	1	435	1	0	0	0	0	0	1	0	0	12811	1386	48	3	319	3	PTPRS	19	5208351	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	72861	5208351	53920632	7938	28863											
PTPRS	5802	broad.mit.edu	37	chr19	5214594	5214594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacttctcctccagccgcGtcatcatgacgatggtcgcc	6	10	10	15	4	3	2	2	2	1	0	6	3	4	2	4	1	1	0	4	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5214594G>A	ENST00000587303.1	-	28	4571	c.4472C>T	c.(4471-4473)aCg>aTg	p.T1491M	PTPRS_ENST00000262963.6_Missense_Mutation_p.T1471M|PTPRS_ENST00000588012.1_Missense_Mutation_p.T1453M|PTPRS_ENST00000592099.1_Missense_Mutation_p.T1044M|PTPRS_ENST00000372412.4_Missense_Mutation_p.T1492M|PTPRS_ENST00000348075.2_Missense_Mutation_p.T1453M|PTPRS_ENST00000353284.2_Missense_Mutation_p.T1044M|PTPRS_ENST00000357368.4_Missense_Mutation_p.T1491M|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1491	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CTCCAGCCGCGTCATCATGAC	0.637																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(4474-4476)aCg>aTg		protein tyrosine phosphatase, receptor type, S							60	51	54					19																	5214594		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5214594G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4472C>T	19.37:g.5214594G>A	ENSP00000467537:p.Thr1491Met					PTPRS_ENST00000588012.1_Missense_Mutation_p.T1453M|PTPRS_ENST00000587303.1_Missense_Mutation_p.T1491M|PTPRS_ENST00000592099.1_Missense_Mutation_p.T1044M|PTPRS_ENST00000348075.2_Missense_Mutation_p.T1453M|PTPRS_ENST00000262963.6_Missense_Mutation_p.T1471M|PTPRS_ENST00000357368.4_Missense_Mutation_p.T1491M|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.T1044M	p.T1492M			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	29	4708	-			1491			Tyrosine-protein phosphatase 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.4475C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961755	0.53400	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	3.22	3.22	0.36961	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	U	0.000002	T	0.72309	0.3444	H	0.97611	4.04	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.84225	0.0463	10	0.87932	D	0	.	14.9497	0.71064	0.0:0.0:1.0:0.0	.	1073;1044;1048;1453;1491;1086	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	M	1086;1492;1491;1491;1482;1471;1453;1073;1048;1044	ENSP00000361489:T1492M;ENSP00000349932:T1491M;ENSP00000262963:T1471M;ENSP00000269907:T1453M;ENSP00000327313:T1044M	ENSP00000262963:T1471M	T	-	2	0	PTPRS	5165594	1.000000	0.71417	0.958000	0.39756	0.145000	0.21501	9.547000	0.98100	1.833000	0.53350	0.313000	0.20887	ACG		0.637	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			9	16	0	0	0	1	0	9	16					A	5214594	G	A	5214594	3	1	435	1	0	0	0	0	1	0	0	0	12811	1145	40	1	1414	1	PTPRS	19	5214594	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6243	5214594	53914389	7939	28864											
SAFB	6294	broad.mit.edu	37	chr19	5661677	5661677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagcgggaacggctggagCgcgaacgcatgcacgtggag	9	4	19	9	6	0	0	0	0	0	0	0	5	0	4	0	5	5	3	0	5	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5661677C>T	ENST00000292123.5	+	15	2118	c.2011C>T	c.(2011-2013)Cgc>Tgc	p.R671C	SAFB_ENST00000454510.1_Missense_Mutation_p.R602C|SAFB_ENST00000592224.1_Missense_Mutation_p.R670C|SAFB_ENST00000588852.1_Missense_Mutation_p.R671C|SAFB_ENST00000538656.1_Missense_Mutation_p.R513C|SAFB_ENST00000433404.1_Missense_Mutation_p.R501C	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	671	Arg-rich.|Glu-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			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)		ACGGCTGGAGCGCGAACGCAT	0.701																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(2011-2013)Cgc>Tgc		scaffold attachment factor B							17	21	19					19																	5661677		2198	4291	6489	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5661677C>T	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"RNA binding motif (RRM) containing"	10520	protein-coding gene	gene with protein product	"Hsp27 ERE-TATA binding protein"	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2011C>T	19.37:g.5661677C>T	ENSP00000292123:p.Arg671Cys					SAFB_ENST00000454510.1_Missense_Mutation_p.R602C|SAFB_ENST00000592224.1_Missense_Mutation_p.R670C|SAFB_ENST00000538656.1_Missense_Mutation_p.R513C|SAFB_ENST00000588852.1_Missense_Mutation_p.R671C|SAFB_ENST00000433404.1_Missense_Mutation_p.R501C	p.R671C	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	15	2118	+			671			Arg-rich.|Glu-rich.|Interaction with POLR2A.|Interaction with SAFB2.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.2011C>T	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849263	0.51270	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.28454	1.75;1.76;1.67;1.61	5.38	4.28	0.50868	.	0.000000	0.53938	D	0.000056	T	0.58264	0.2110	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.997;0.997;0.999;0.997;0.997;0.997;0.997	T	0.64462	-0.6402	10	0.87932	D	0	-15.6844	14.8817	0.70537	0.2254:0.7746:0.0:0.0	.	470;513;602;670;671;671;670	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	C	602;566;501;671;513	ENSP00000415895:R602C;ENSP00000404545:R501C;ENSP00000292123:R671C;ENSP00000438880:R513C	ENSP00000292123:R671C	R	+	1	0	SAFB	5612677	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	1.911000	0.39937	2.683000	0.91414	0.455000	0.32223	CGC		0.701	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			5	6	0	0	0	1	0	5	6					T	5661677	C	T	5661677	3	4	435	1	0	0	0	0	1	0	0	0	13806	768	27	1	2069	1	SAFB	19	5661677	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	447083	5661677	53467306	7940	28865											
LONP1	9361	broad.mit.edu	37	chr19	5707726	5707726	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattggtctcttccaggacGtcctgcagctcatgggactc	7	11	10	13	1	2	0	1	0	1	0	6	2	4	2	2	3	2	2	2	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5707726G>A	ENST00000360614.3	-	6	1201	c.1044C>T	c.(1042-1044)gaC>gaT	p.D348D	LONP1_ENST00000593119.1_Silent_p.D284D|LONP1_ENST00000585374.1_Silent_p.D234D|LONP1_ENST00000590729.1_Silent_p.D218D|LONP1_ENST00000540670.2_Silent_p.D152D	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTCCAGGACGTCCTGCAGCT	0.682																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1042-1044)gaC>gaT		lon peptidase 1, mitochondrial							62	64	64					19																	5707726		2203	4300	6503	SO:0001819	synonymous_variant	9361				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	g.chr19:5707726G>A	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"ATPases / AAA-type", "Serine peptidases / Serine peptidases"	9479	protein-coding gene	gene with protein product		605490	"protease, serine, 15"	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1044C>T	19.37:g.5707726G>A						LONP1_ENST00000585374.1_Silent_p.D234D|LONP1_ENST00000593119.1_Silent_p.D284D|LONP1_ENST00000590729.1_Silent_p.D218D|LONP1_ENST00000540670.2_Silent_p.D152D	p.D348D	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			6	1201	-			348			Lon.			Silent	SNP	ENST00000360614.3	37	c.1044C>T	CCDS12148.1																																																																																				0.682	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		31	42	0	0	0	1	0	31	42					A	5707726	G	A	5707726	2	1	435	1	0	0	0	0	0	0	0	1	8892	1136	40	1		1	LONP1	19	5707726	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	46049	5707726	53421257	7941	28866											
TMEM146	257062	broad.mit.edu	37	chr19	5744496	5744496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttctttgtcacaggttgCgatgcttgtagtgaatcaag	8	17	10	6	1	3	1	2	1	1	0	3	2	3	1	0	1	2	3	0	1	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5744496C>T	ENST00000381624.3	+	8	693	c.632C>T	c.(631-633)gCg>gTg	p.A211V	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	211					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TCACAGGTTGCGATGCTTGTA	0.408																																						ENST00000381624.3																			0											c.(631-633)gCg>gTg		catsper channel auxiliary subunit delta							185	162	169					19																	5744496		1840	4100	5940	SO:0001583	missense	257062					integral to membrane		g.chr19:5744496C>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.632C>T	19.37:g.5744496C>T	ENSP00000371037:p.Ala211Val					CATSPERD_ENST00000381614.2_5'UTR	p.A211V	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			8	693	+			211					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.632C>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	9.609	1.130804	0.21041	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.22336	1.96	2.61	0.377	0.16198	.	.	.	.	.	T	0.09949	0.0244	N	0.08118	0	0.19775	N	0.999958	P	0.43607	0.812	B	0.37943	0.261	T	0.20042	-1.0287	9	0.72032	D	0.01	.	8.481	0.33043	0.0:0.4846:0.5154:0.0	.	211	Q86XM0	TM146_HUMAN	V	137;211	ENSP00000371037:A211V	ENSP00000371037:A211V	A	+	2	0	TMEM146	5695496	0.446000	0.25665	0.011000	0.14972	0.008000	0.06430	0.737000	0.26144	0.183000	0.20059	-0.702000	0.03669	GCG		0.408	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		31	53	0	0	0	1	0	31	53					T	5744496	C	T	5744496	3	4	435	1	0	0	0	0	1	0	0	0	16057	768	27	1	662	1	TMEM146	19	5744496	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	36770	5744496	53384487	7942	28867											
PRR22	163154	broad.mit.edu	37	chr19	5784044	5784044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggggtcgaagaagcaccCgcatggggccatctggaaac	10	4	16	11	3	1	1	0	0	1	1	2	3	1	2	2	5	2	2	2	5	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5784044C>T	ENST00000419421.2	-	3	318	c.214G>A	c.(214-216)Ggg>Agg	p.G72R	CTB-54O9.9_ENST00000586012.1_3'UTR	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	72										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						AAGAAGCACCCGCATGGGGCC	0.677																																						ENST00000419421.2																			0				endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						c.(214-216)Ggg>Agg		proline rich 22							21	28	26					19																	5784044		2176	4275	6451	SO:0001583	missense	163154							g.chr19:5784044C>T	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.214G>A	19.37:g.5784044C>T	ENSP00000407653:p.Gly72Arg					CTB-54O9.9_ENST00000586012.1_3'UTR	p.G72R	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN			3	318	-			70					E9PB31	Missense_Mutation	SNP	ENST00000419421.2	37	c.214G>A	CCDS45933.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659700	0.67586	.	.	ENSG00000212123	ENST00000419421	T	0.29142	1.58	4.58	4.58	0.56647	.	.	.	.	.	T	0.41903	0.1179	L	0.32530	0.975	0.35949	D	0.833742	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51156	-0.8741	9	0.72032	D	0.01	-13.4846	10.0052	0.41953	0.2018:0.7982:0.0:0.0	.	72;70	E9PB31;Q8IZ63	.;PRR22_HUMAN	R	72	ENSP00000407653:G72R	ENSP00000407653:G72R	G	-	1	0	PRR22	5735044	0.945000	0.32115	1.000000	0.80357	0.819000	0.46315	4.236000	0.58675	2.373000	0.80994	0.491000	0.48974	GGG		0.677	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		19	23	0	0	0	1	0	19	23					T	5784044	C	T	5784044	3	4	435	1	0	0	0	0	1	0	0	0	12593	652	23	2	1058	2	PRR22	19	5784044	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	39548	5784044	53344939	7943	28868											
CAPS	8498	broad.mit.edu	37	chr19	5914990	5914990	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaggctgtcatcgcagctGcatttgccaagctggaccgc	7	8	14	12	2	1	0	1	0	0	0	2	2	1	2	2	3	4	5	2	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5914990G>A	ENST00000340578.6	-	0	3233				AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000222125.5_Missense_Mutation_p.A101T|CAPS_ENST00000588776.1_Missense_Mutation_p.A187T|CAPS_ENST00000452990.2_Missense_Mutation_p.A101T	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CATCGCAGCTGCATTTGCCAA	0.682																																						ENST00000588776.1																			0				cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	4						c.(559-561)Gca>Aca		calcyphosine							59	59	59					19																	5914990		2203	4299	6502	SO:0001628	intergenic_variant	828				intracellular signal transduction	cytoplasm	calcium ion binding	g.chr19:5914990G>A	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4			19.37:g.5914990G>A						CAPS_ENST00000452990.2_Missense_Mutation_p.A101T|CAPS_ENST00000222125.5_Missense_Mutation_p.A101T	p.A187T			Q13938	CAYP1_HUMAN			4	2926	+			101					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	c.559G>A	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007573	0.93287	.	.	ENSG00000105519	ENST00000394521;ENST00000222125;ENST00000452990	T;T	0.74002	-0.8;-0.62	4.99	4.99	0.66335	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	D	0.87337	0.6152	M	0.84846	2.72	0.50813	D	0.999897	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.89539	0.3791	10	0.87932	D	0	-19.1075	15.7541	0.78011	0.0:0.0:1.0:0.0	.	234;101	Q8NF12;Q13938	.;CAYP1_HUMAN	T	234;101;101	ENSP00000222125:A101T;ENSP00000403263:A101T	ENSP00000222125:A101T	A	+	1	0	CAPS	5865990	1.000000	0.71417	0.053000	0.19242	0.855000	0.48748	8.254000	0.89844	2.302000	0.77476	0.555000	0.69702	GCA		0.682	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		22	23	0	0	0	1	0	22	23					A	5914990	G	A	5914990	1	1	435	0	1	0	0	0	0	0	0	0	2637	1319	46	3		3	CAPS	19	5914990	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	130946	5914990	53213993	7944	28869											
RANBP3	8498	broad.mit.edu	37	chr19	5925679	5925679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggaaatagttcgttgCggttggcgtgtctgcgctgg	5	12	17	7	4	1	0	0	0	1	0	2	2	1	2	0	5	2	4	0	5	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5925679C>T	ENST00000340578.6	-	10	940	c.883G>A	c.(883-885)Gca>Aca	p.A295T	RANBP3_ENST00000034275.8_Missense_Mutation_p.A227T|RANBP3_ENST00000591092.1_Missense_Mutation_p.A222T|RANBP3_ENST00000439268.2_Missense_Mutation_p.A290T|RANBP3_ENST00000541471.1_Missense_Mutation_p.A167T	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	295					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						TAGTTCGTTGCGGTTGGCGTG	0.587																																						ENST00000340578.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						c.(883-885)Gca>Aca		RAN binding protein 3							80	89	86					19																	5925679		2122	4226	6348	SO:0001583	missense	8498				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	g.chr19:5925679C>T	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.883G>A	19.37:g.5925679C>T	ENSP00000341483:p.Ala295Thr					RANBP3_ENST00000591092.1_Missense_Mutation_p.A222T|RANBP3_ENST00000541471.1_Missense_Mutation_p.A167T|RANBP3_ENST00000034275.8_Missense_Mutation_p.A227T|RANBP3_ENST00000439268.2_Missense_Mutation_p.A290T	p.A295T	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN			10	940	-			295					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	c.883G>A	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117399	0.56505	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.33865	1.39;1.4;2.15;1.41	5.19	5.19	0.71726	.	0.342924	0.34802	N	0.003662	T	0.41305	0.1153	M	0.63428	1.95	0.35594	D	0.807355	P;D;P;P;P;D;D	0.63880	0.92;0.987;0.87;0.87;0.92;0.993;0.987	B;B;B;B;B;P;B	0.46758	0.321;0.326;0.129;0.129;0.254;0.526;0.326	T	0.51164	-0.8740	10	0.27082	T	0.32	-22.7138	14.6031	0.68456	0.0:1.0:0.0:0.0	.	167;290;167;222;227;290;295	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	T	295;290;227;226;167	ENSP00000341483:A295T;ENSP00000404837:A290T;ENSP00000034275:A227T;ENSP00000445071:A167T	ENSP00000034275:A227T	A	-	1	0	RANBP3	5876679	0.993000	0.37304	0.164000	0.22755	0.493000	0.33554	4.375000	0.59549	2.583000	0.87209	0.561000	0.74099	GCA		0.587	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		16	63	0	0	0	1	0	16	63					T	5925679	C	T	5925679	3	4	435	1	0	0	0	0	1	0	0	0	13029	768	27	1	852	1	RANBP3	19	5925679	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10689	5925679	53203304	7945	28870											
RANBP3	8498	broad.mit.edu	37	chr19	5933453	5933453	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggcttggccgtggatcagCgttggtggcttcaaccggaa	6	9	17	9	3	2	0	2	0	0	0	2	2	2	2	2	7	2	3	2	7	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5933453C>T	ENST00000340578.6	-	6	501	c.444G>A	c.(442-444)acG>acA	p.T148T	RANBP3_ENST00000034275.8_Silent_p.T80T|RANBP3_ENST00000591092.1_Silent_p.T80T|RANBP3_ENST00000439268.2_Silent_p.T148T|RANBP3_ENST00000591124.1_5'UTR|RANBP3_ENST00000541471.1_Silent_p.T20T	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	148					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CGTGGATCAGCGTTGGTGGCT	0.622																																						ENST00000340578.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						c.(442-444)acG>acA		RAN binding protein 3							38	44	42					19																	5933453		2030	4188	6218	SO:0001819	synonymous_variant	8498				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	g.chr19:5933453C>T	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.444G>A	19.37:g.5933453C>T						RANBP3_ENST00000591092.1_Silent_p.T80T|RANBP3_ENST00000541471.1_Silent_p.T20T|RANBP3_ENST00000034275.8_Silent_p.T80T|RANBP3_ENST00000439268.2_Silent_p.T148T|RANBP3_ENST00000591124.1_5'UTR	p.T148T	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN			6	501	-			148					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Silent	SNP	ENST00000340578.6	37	c.444G>A	CCDS42478.1																																																																																				0.622	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		9	24	0	0	0	1	0	9	24					T	5933453	C	T	5933453	2	4	435	1	0	0	0	0	0	0	0	1	13029	755	27	1		1	RANBP3	19	5933453	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7774	5933453	53195530	7946	28871											
RFX2	5990	broad.mit.edu	37	chr19	5997117	5997117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccggtggcctccgcgacgCggtgctccaccaggtagaac	6	6	13	16	5	0	1	0	0	0	1	3	2	3	1	5	4	2	2	5	4	2	1	rs571540930		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5997117C>T	ENST00000303657.5	-	16	2116	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	RFX2_ENST00000359161.3_Missense_Mutation_p.R656H|RFX2_ENST00000592546.1_Missense_Mutation_p.R631H|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	656					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R656H(1)		breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTCCGCGACGCGGTGCTCCAC	0.682													C|||	1	0.000199681	0	0.0014	5008	,	,		18430	0		0	False		,,,				2504	0				Colon(38;171 817 19800 47433 48051)	ENST00000303657.5																			1	Substitution - Missense(1)	p.R656H(1)	central_nervous_system(1)	breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1966-1968)cGc>cAc		regulatory factor X, 2 (influences HLA class II expression)							74	61	65					19																	5997117		2203	4300	6503	SO:0001583	missense	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:5997117C>T		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"trans-acting regulatory factor 2", "DNA binding protein RFX2", "HLA class II regulatory factor RFX2"	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1967G>A	19.37:g.5997117C>T	ENSP00000306335:p.Arg656His					CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.R631H|RFX2_ENST00000359161.3_Missense_Mutation_p.R656H	p.R656H	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN			16	2116	-			656					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	c.1967G>A	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	C	36	5.617955	0.96649	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.45276	0.9	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.66406	0.2786	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.962	T	0.67225	-0.5724	10	0.38643	T	0.18	-35.6259	17.1348	0.86736	0.0:1.0:0.0:0.0	.	631;656	P48378-2;P48378	.;RFX2_HUMAN	H	656;631;443	ENSP00000306335:R656H	ENSP00000306335:R656H	R	-	2	0	RFX2	5948117	1.000000	0.71417	0.983000	0.44433	0.990000	0.78478	7.658000	0.83755	2.374000	0.81015	0.655000	0.94253	CGC		0.682	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		16	16	0	0	0	1	0	16	16					T	5997117	C	T	5997117	3	4	435	1	0	0	0	0	1	0	0	0	13263	768	27	1	216	1	RFX2	19	5997117	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	63664	5997117	53131866	7947	28872											
RFX2	5990	broad.mit.edu	37	chr19	6002838	6002838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccaggtggttgagggacGtgtagcgccgcagcgtctgg	5	7	19	10	5	1	1	0	1	1	0	1	2	1	2	2	4	2	3	2	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6002838G>A	ENST00000303657.5	-	14	1693	c.1544C>T	c.(1543-1545)aCg>aTg	p.T515M	RFX2_ENST00000359161.3_Missense_Mutation_p.T515M|RFX2_ENST00000592546.1_Missense_Mutation_p.T490M|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GTTGAGGGACGTGTAGCGCCG	0.667																																					Colon(38;171 817 19800 47433 48051)	ENST00000303657.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1543-1545)aCg>aTg		regulatory factor X, 2 (influences HLA class II expression)							68	46	53					19																	6002838		2201	4300	6501	SO:0001583	missense	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6002838G>A		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"trans-acting regulatory factor 2", "DNA binding protein RFX2", "HLA class II regulatory factor RFX2"	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1544C>T	19.37:g.6002838G>A	ENSP00000306335:p.Thr515Met					CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.T490M|RFX2_ENST00000359161.3_Missense_Mutation_p.T515M	p.T515M	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN			14	1693	-			515					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	c.1544C>T	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937436	0.92458	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.53206	0.63	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.80226	-0.1470	10	0.87932	D	0	-35.6137	17.1616	0.86805	0.0:0.0:1.0:0.0	.	490;515	P48378-2;P48378	.;RFX2_HUMAN	M	515;490;302	ENSP00000306335:T515M	ENSP00000306335:T515M	T	-	2	0	RFX2	5953838	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.521000	0.98029	2.436000	0.82500	0.650000	0.86243	ACG		0.667	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		4	10	0	0	0	1	0	4	10					A	6002838	G	A	6002838	3	1	435	1	0	0	0	0	1	0	0	0	13263	1145	40	1	647	1	RFX2	19	6002838	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5721	6002838	53126145	7948	28873											
MLLT1	4298	broad.mit.edu	37	chr19	6222297	6222297	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggtgcggggCgaggtgcctggagcactccg	7	4	22	8	3	0	0	0	0	0	0	1	6	1	4	2	8	3	1	2	8	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6222297C>T	ENST00000252674.7	-	6	1108	c.945G>A	c.(943-945)tcG>tcA	p.S315S		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	315					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGGTGCGGGGCGAGGTGCCTG	0.667			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(943-945)tcG>tcA		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							33	33	33					19																	6222297		2197	4300	6497	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6222297C>T		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.945G>A	19.37:g.6222297C>T							p.S315S	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			6	1108	-			315					Q14768	Silent	SNP	ENST00000252674.7	37	c.945G>A	CCDS12160.1																																																																																				0.667	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		8	17	0	0	0	1	0	8	17					T	6222297	C	T	6222297	2	4	435	1	0	0	0	0	0	0	0	1	9625	755	27	1		1	MLLT1	19	6222297	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	219459	6222297	52906686	7949	28874											
MLLT1	4298	broad.mit.edu	37	chr19	6270767	6270767	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaacctcacctggacggTgcactggaggagagagaggt	10	7	14	10	1	2	2	1	0	1	2	2	6	2	4	2	5	2	1	2	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6270767T>C	ENST00000252674.7	-	2	179	c.16A>G	c.(16-18)Acc>Gcc	p.T6A		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	6					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						ACCTGGACGGTGCACTGGAGG	0.612			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(16-18)Acc>Gcc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							80	63	69					19																	6270767		2203	4300	6503	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6270767T>C		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.16A>G	19.37:g.6270767T>C	ENSP00000252674:p.Thr6Ala		OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	632		p.T6A	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			2	179	-			6					Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.16A>G	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.889704	0.33348	.	.	ENSG00000130382	ENST00000252674	.	.	.	5.41	5.41	0.78517	.	0.109676	0.64402	D	0.000009	T	0.27384	0.0672	N	0.03154	-0.405	0.54753	D	0.999988	B	0.19935	0.04	B	0.24848	0.056	T	0.19516	-1.0303	9	0.05721	T	0.95	-15.2609	13.3955	0.60849	0.0:0.0:0.0:1.0	.	6	Q03111	ENL_HUMAN	A	6	.	ENSP00000252674:T6A	T	-	1	0	MLLT1	6221767	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.356000	0.52269	2.051000	0.60960	0.459000	0.35465	ACC		0.612	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		6	15	0	0	0	1	0	6	15					C	6270767	T	C	6270767	3	2	435	1	0	0	0	0	1	0	0	0	9625	1696	59	4	1707	4	MLLT1	19	6270767	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	48470	6270767	52858216	7950	28875											
GTF2F1	2962	broad.mit.edu	37	chr19	6389529	6389529	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactccttgaggacgatgccGtacttcttcctccgagcctc	7	11	8	15	3	1	1	0	1	1	0	5	4	4	2	5	1	4	1	5	1	2	4	rs201169675	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6389529G>A	ENST00000394456.5	-	4	716	c.252C>T	c.(250-252)taC>taT	p.Y84Y	GTF2F1_ENST00000429701.2_Silent_p.Y56Y|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	84					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GGACGATGCCGTACTTCTTCC	0.617													G|||	2	0.000399361	0.0015	0	5008	,	,		13272	0		0	False		,,,				2504	0					ENST00000394456.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						c.(250-252)taC>taT		general transcription factor IIF, polypeptide 1, 74kDa							130	128	129					19																	6389529		2203	4300	6503	SO:0001819	synonymous_variant	2962				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	g.chr19:6389529G>A		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"General transcription factors"	4652	protein-coding gene	gene with protein product		189968	"general transcription factor IIF, polypeptide 1 (74kD subunit)"			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.252C>T	19.37:g.6389529G>A						GTF2F1_ENST00000429701.2_Silent_p.Y56Y|CTB-180A7.6_ENST00000599584.1_RNA	p.Y84Y	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN			4	716	-			84					B2RCS0|Q9BWN0	Silent	SNP	ENST00000394456.5	37	c.252C>T	CCDS12165.1																																																																																				0.617	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		42	61	0	0	0	1	0	42	61					A	6389529	G	A	6389529	2	1	435	1	0	0	0	0	0	0	0	1	6858	1140	40	1		1	GTF2F1	19	6389529	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	118762	6389529	52739454	7951	28876											
KHSRP	8570	broad.mit.edu	37	chr19	6415312	6415312	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctccggtggccacttgcGctgtgggtggacaaaggcag	6	7	15	13	2	0	0	0	0	0	0	1	1	1	1	4	5	1	2	4	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6415312G>A	ENST00000398148.3	-	19	2059	c.1967C>T	c.(1966-1968)gCg>gTg	p.A656V	CTB-180A7.8_ENST00000398173.3_lincRNA|MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	656	4 X 12 AA imperfect repeats.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GGCCACTTGCGCTGTGGGTGG	0.642																																					Colon(55;593 1006 2067 9135 22980)	ENST00000398148.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						c.e19-1		KH-type splicing regulatory protein							23	26	25					19																	6415312		1976	4139	6115	SO:0001630	splice_region_variant	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6415312G>A	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1967-1C>T	19.37:g.6415312G>A							p.A656_splice	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN			19	2059	-			656			4 X 12 AA imperfect repeats.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Splice_Site	SNP	ENST00000398148.3	37	c.1966_splice	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	G	5.964	0.361860	0.11296	.	.	ENSG00000088247	ENST00000398148;ENST00000201886	T	0.49432	0.78	4.23	4.23	0.50019	.	0.086340	0.44285	U	0.000477	T	0.35653	0.0939	L	0.47716	1.5	0.80722	D	1	P	0.40211	0.707	B	0.25884	0.064	T	0.35001	-0.9806	10	0.33141	T	0.24	.	15.903	0.79397	0.0:0.0:1.0:0.0	.	656	Q92945	FUBP2_HUMAN	V	656	ENSP00000381216:A656V	ENSP00000201886:A656V	A	-	2	0	KHSRP	6366312	1.000000	0.71417	0.959000	0.39883	0.366000	0.29705	4.470000	0.60175	2.348000	0.79779	0.655000	0.94253	GCG		0.642	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1		Missense_Mutation	9	25	0	0	0	1	0	9	25					A	6415312	G	A	6415312	5	1	435	1	0	0	0	0	0	0	1	0	8151	1101	38	1	176	1	KHSRP	19	6415312	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25783	6415312	52713671	7952	28877											
SLC25A41	8570	broad.mit.edu	37	chr19	6427257	6427257	+	5'Flank	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcacccagaagcactggAgcatctgcaagagaaggggg	13	5	13	10	0	2	2	1	0	1	2	2	4	2	3	1	3	3	3	1	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6427257A>G	ENST00000398148.3	-	0	0				SLC25A41_ENST00000321510.6_Missense_Mutation_p.L266P	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GAAGCACTGGAGCATCTGCAA	0.627																																					Colon(55;593 1006 2067 9135 22980)	ENST00000321510.6																			0				large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						c.(796-798)cTc>cCc		solute carrier family 25, member 41							23	27	25					19																	6427257		1974	4171	6145	SO:0001631	upstream_gene_variant	284427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:6427257A>G	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945			19.37:g.6427257A>G	Exception_encountered						p.L266P	NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN			6	865	-			266					O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	ENST00000398148.3	37	c.797T>C	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.748963	0.49257	.	.	ENSG00000181240	ENST00000321510	T	0.80994	-1.44	4.18	4.18	0.49190	Mitochondrial carrier domain (2);	.	.	.	.	D	0.93145	0.7817	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.94961	0.8108	9	0.87932	D	0	-15.2783	12.4071	0.55445	1.0:0.0:0.0:0.0	.	266	Q8N5S1	S2541_HUMAN	P	266	ENSP00000322649:L266P	ENSP00000322649:L266P	L	-	2	0	SLC25A41	6378257	1.000000	0.71417	0.004000	0.12327	0.430000	0.31655	7.874000	0.87199	1.756000	0.51951	0.374000	0.22700	CTC		0.627	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			4	10	0	0	0	1	0	4	10					G	6427257	A	G	6427257	1	3	435	0	1	0	0	0	0	0	0	0	14506	304	11	4		4	SLC25A41	19	6427257	5'Flank	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	11945	6427257	52701726	7953	28878											
SLC25A23	79085	broad.mit.edu	37	chr19	6454479	6454479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagccggttggtctttgagGcatggacctgaatggggaga	8	10	16	7	1	2	3	1	2	1	1	2	5	2	4	2	6	1	2	2	6	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6454479G>T	ENST00000301454.4	-	6	756	c.650C>A	c.(649-651)gCc>gAc	p.A217D	SLC25A23_ENST00000414491.2_Missense_Mutation_p.A34D|SLC25A23_ENST00000334510.5_Missense_Mutation_p.A217D	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	217					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GGTCTTTGAGGCATGGACCTG	0.607																																						ENST00000301454.4																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						c.(649-651)gCc>gAc		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23							70	72	71					19																	6454479		2203	4300	6503	SO:0001583	missense	79085				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr19:6454479G>T	AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"Solute carriers", "EF-hand domain containing"	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.650C>A	19.37:g.6454479G>T	ENSP00000301454:p.Ala217Asp					SLC25A23_ENST00000334510.5_Missense_Mutation_p.A217D|SLC25A23_ENST00000414491.2_Missense_Mutation_p.A34D	p.A217D	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN			6	756	-			217					B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	ENST00000301454.4	37	c.650C>A	CCDS32882.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512732	0.85389	.	.	ENSG00000125648	ENST00000264088;ENST00000301454;ENST00000414491;ENST00000334510	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.79	5.79	0.91817	Mitochondrial carrier domain (2);	0.160444	0.53938	D	0.000051	T	0.78233	0.4251	L	0.51853	1.615	0.45342	D	0.998338	P;P	0.45986	0.721;0.87	P;P	0.48488	0.579;0.493	T	0.76615	-0.2894	10	0.37606	T	0.19	-28.6334	14.421	0.67183	0.0:0.1478:0.8522:0.0	.	34;217	E7ESZ5;Q9BV35	.;SCMC3_HUMAN	D	264;217;34;217	ENSP00000264088:A264D;ENSP00000301454:A217D;ENSP00000408814:A34D;ENSP00000334537:A217D	ENSP00000264088:A264D	A	-	2	0	SLC25A23	6405479	1.000000	0.71417	0.993000	0.49108	0.943000	0.58893	4.397000	0.59690	2.748000	0.94277	0.655000	0.94253	GCC		0.607	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		40	39	1	0	8.16277e-20	1	9.0371e-20	40	39					T	6454479	G	T	6454479	3	4	435	1	0	0	0	0	1	0	0	0	14486	1203	42	5	776	5	SLC25A23	19	6454479	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27222	6454479	52674504	7954	28879											
TUBB4	10382	broad.mit.edu	37	chr19	6495417	6495417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgccgatgaaggtcgCggccatcttcaggccgcggg	5	8	16	12	5	2	1	1	1	1	0	3	2	2	1	3	4	1	2	3	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6495417C>T	ENST00000264071.2	-	4	1464	c.1093G>A	c.(1093-1095)Gcg>Acg	p.A365T	TUBB4A_ENST00000540257.1_Missense_Mutation_p.A365T|CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	365			A -> V (in dbSNP:rs1053267). {ECO:0000269|PubMed:6462917}.		'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										ATGAAGGTCGCGGCCATCTTC	0.617																																						ENST00000264071.2																			0											c.(1093-1095)Gcg>Acg		tubulin, beta 4A class IVa							176	154	161					19																	6495417		2203	4300	6503	SO:0001583	missense	10382				'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	g.chr19:6495417C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1093G>A	19.37:g.6495417C>T	ENSP00000264071:p.Ala365Thr					TUBB4A_ENST00000540257.1_Missense_Mutation_p.A365T	p.A365T			P04350	TBB4_HUMAN			4	1464	-			365		A -> V (in dbSNP:rs1053267).			B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1093G>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906499	0.52333	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.85411	-1.98;-1.98	3.43	3.43	0.39272	.	0.000000	0.64402	U	0.000003	D	0.86151	0.5864	M	0.83953	2.67	0.51233	D	0.999916	B	0.33022	0.394	B	0.34779	0.189	D	0.87864	0.2666	10	0.87932	D	0	.	13.6752	0.62449	0.0:1.0:0.0:0.0	.	365	P04350	TBB4A_HUMAN	T	365;365;283	ENSP00000264071:A365T;ENSP00000443590:A365T	ENSP00000264071:A365T	A	-	1	0	TUBB4	6446417	0.998000	0.40836	0.971000	0.41717	0.844000	0.47949	3.926000	0.56491	1.473000	0.48159	0.306000	0.20318	GCG		0.617	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		52	92	0	0	0	1	0	52	92					T	6495417	C	T	6495417	3	4	435	1	0	0	0	0	1	0	0	0	16755	768	27	1	245	1	TUBB4	19	6495417	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	40938	6495417	52633566	7955	28880											
TNFSF14	8740	broad.mit.edu	37	chr19	6664968	6664968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagccccgaagtaagaccggGtaccatcacgcagtcgaacc	13	4	10	14	4	1	1	1	0	0	1	2	3	1	1	5	1	3	3	5	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6664968G>A	ENST00000599359.1	-	5	1073	c.692C>T	c.(691-693)aCc>aTc	p.T231I	TNFSF14_ENST00000326176.9_Missense_Mutation_p.T195I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.T195I			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	231					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GTAAGACCGGGTACCATCACG	0.592																																						ENST00000326176.9																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(583-585)aCc>aTc		tumor necrosis factor (ligand) superfamily, member 14							197	165	176					19																	6664968		2203	4300	6503	SO:0001583	missense	0				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	g.chr19:6664968G>A	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.692C>T	19.37:g.6664968G>A	ENSP00000469049:p.Thr231Ile					TNFSF14_ENST00000245912.3_Missense_Mutation_p.T195I|TNFSF14_ENST00000599359.1_Missense_Mutation_p.T231I	p.T195I	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN			5	965	-			231					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.584C>T	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242947	0.39697	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T	0.30182	1.54	4.46	4.46	0.54185	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.366162	0.24035	N	0.042158	T	0.50803	0.1637	L	0.55834	1.745	0.23421	N	0.997719	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.98	T	0.43861	-0.9365	10	0.62326	D	0.03	-0.5028	15.9041	0.79406	0.0:0.0:1.0:0.0	.	231;195	O43557;O43557-2	TNF14_HUMAN;.	I	231;195	ENSP00000326940:T195I	ENSP00000245912:T231I	T	-	2	0	TNFSF14	6615968	0.472000	0.25870	0.044000	0.18714	0.099000	0.18886	3.201000	0.51059	2.038000	0.60285	0.561000	0.74099	ACC		0.592	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			35	43	0	0	0	1	0	35	43					A	6664968	G	A	6664968	3	1	435	1	0	0	0	0	1	0	0	0	16304	1261	44	3	34	3	TNFSF14	19	6664968	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	169551	6664968	52464015	7956	28881											
C3	718	broad.mit.edu	37	chr19	6693082	6693082	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagagaagaccttgaccacGtaggcggtcagcctggagtg	11	6	15	9	2	1	4	1	1	0	3	1	6	1	5	3	3	1	1	3	3	2	2	rs562241373	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6693082G>A	ENST00000245907.6	-	26	3335	c.3243C>T	c.(3241-3243)taC>taT	p.Y1081Y		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1081					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			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)	Intravenous Immunoglobulin(DB00028)	CCTTGACCACGTAGGCGGTCA	0.592													G|||	2	0.000399361	0	0	5008	,	,		17632	0		0	False		,,,				2504	0.002					ENST00000245907.6																			0				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	GRCh37	CM003919	C3	M		c.(3241-3243)taC>taT		complement component 3							85	82	83					19																	6693082		2203	4300	6503	SO:0001819	synonymous_variant	718				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	g.chr19:6693082G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3243C>T	19.37:g.6693082G>A							p.Y1081Y	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	26	3335	-			1081					A7E236	Silent	SNP	ENST00000245907.6	37	c.3243C>T	CCDS32883.1																																																																																				0.592	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		4	79	0	0	0	1	0	4	79					A	6693082	G	A	6693082	2	1	435	1	0	0	0	0	0	0	0	1	2204	1140	40	1		1	C3	19	6693082	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28114	6693082	52435901	7957	28882											
C3	718	broad.mit.edu	37	chr19	6707910	6707910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactgcccggggtgcagcCgatgtctgccttctccacca	5	8	10	18	2	2	0	0	0	2	0	3	1	2	0	6	2	4	1	6	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6707910C>T	ENST00000245907.6	-	15	1968	c.1876G>A	c.(1876-1878)Ggc>Agc	p.G626S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	626					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			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)	Intravenous Immunoglobulin(DB00028)	GGGGTGCAGCCGATGTCTGCC	0.662																																						ENST00000245907.6																			0				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						c.(1876-1878)Ggc>Agc		complement component 3							57	52	54					19																	6707910		2203	4300	6503	SO:0001583	missense	718				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	g.chr19:6707910C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1876G>A	19.37:g.6707910C>T	ENSP00000245907:p.Gly626Ser						p.G626S	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	15	1968	-			626					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.1876G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262570	0.59431	.	.	ENSG00000125730	ENST00000245907	T	0.41400	1.0	4.83	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.55417	0.1919	M	0.90595	3.13	0.43076	D	0.994723	P	0.48407	0.91	P	0.46510	0.519	T	0.64179	-0.6468	10	0.46703	T	0.11	.	11.9609	0.53007	0.0:0.9131:0.0:0.0869	.	626	P01024	CO3_HUMAN	S	626	ENSP00000245907:G626S	ENSP00000245907:G626S	G	-	1	0	C3	6658910	1.000000	0.71417	0.958000	0.39756	0.420000	0.31355	5.143000	0.64826	1.043000	0.40175	-0.192000	0.12808	GGC		0.662	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		19	38	0	0	0	1	0	19	38					T	6707910	C	T	6707910	3	4	435	1	0	0	0	0	1	0	0	0	2204	652	23	2	3223	2	C3	19	6707910	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14828	6707910	52421073	7958	28883											
GPR108	56927	broad.mit.edu	37	chr19	6732129	6732129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgctggcgccttcctcgCgggactcgatgatgatgtag	6	10	14	11	5	0	2	0	2	0	0	4	4	1	3	2	2	0	2	2	2	1	2	rs566849512		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6732129C>T	ENST00000264080.7	-	13	1189	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_Missense_Mutation_p.R146H	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	388						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCCTTCCTCGCGGGACTCGAT	0.642													C|||	1	0.000199681	0	0.0014	5008	,	,		19304	0		0	False		,,,				2504	0					ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(1162-1164)cGc>cAc		G protein-coupled receptor 108																																				SO:0001583	missense	56927					integral to membrane		g.chr19:6732129C>T		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"GPCR / Unclassified : 7TM orphan receptors"	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1163G>A	19.37:g.6732129C>T	ENSP00000264080:p.Arg388His					GPR108_ENST00000430424.4_Missense_Mutation_p.R146H	p.R388H	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			13	1189	-			388					B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	c.1163G>A	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843122	0.71488	.	.	ENSG00000125734	ENST00000264080;ENST00000550472;ENST00000430424	T	0.22945	1.93	4.61	3.53	0.40419	.	0.149567	0.32444	U	0.006089	T	0.37293	0.0998	L	0.50333	1.59	0.80722	D	1	D;D	0.65815	0.995;0.984	P;P	0.59595	0.86;0.806	T	0.17228	-1.0376	10	0.87932	D	0	-22.4648	10.1473	0.42771	0.0:0.6129:0.3871:0.0	.	388;146	Q9NPR9;B9EK73	GP108_HUMAN;.	H	388;38;146	ENSP00000264080:R388H	ENSP00000264080:R388H	R	-	2	0	GPR108	6683129	1.000000	0.71417	0.889000	0.34880	0.184000	0.23303	4.113000	0.57851	2.104000	0.64026	0.491000	0.48974	CGC		0.642	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			6	18	0	0	0	1	0	6	18					T	6732129	C	T	6732129	3	4	435	1	0	0	0	0	1	0	0	0	6624	768	27	1	492	1	GPR108	19	6732129	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	24219	6732129	52396854	7959	28884											
TRIP10	9322	broad.mit.edu	37	chr19	6743769	6743769	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggccgaagaaagcaaaaaCgaatatgcggctcaactgca	17	5	10	9	3	1	1	1	0	0	1	1	3	1	1	1	2	5	3	1	2	7	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6743769C>T	ENST00000313244.9	+	7	599	c.564C>T	c.(562-564)aaC>aaT	p.N188N	TRIP10_ENST00000600428.1_Silent_p.N80N|TRIP10_ENST00000596758.1_Silent_p.N188N|TRIP10_ENST00000313285.8_Silent_p.N188N			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	188	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AAAGCAAAAACGAATATGCGG	0.527																																						ENST00000600428.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(238-240)aaC>aaT		thyroid hormone receptor interactor 10							183	160	168					19																	6743769		2203	4300	6503	SO:0001819	synonymous_variant	9322				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	g.chr19:6743769C>T	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.564C>T	19.37:g.6743769C>T						TRIP10_ENST00000313285.8_Silent_p.N188N|TRIP10_ENST00000596758.1_Silent_p.N188N|TRIP10_ENST00000313244.9_Silent_p.N188N	p.N80N			Q15642	CIP4_HUMAN			7	886	+			188			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).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Silent	SNP	ENST00000313244.9	37	c.240C>T																																																																																					0.527	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			19	25	0	0	0	1	0	19	25					T	6743769	C	T	6743769	2	4	435	1	0	0	0	0	0	0	0	1	16551	535	19	1		1	TRIP10	19	6743769	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11640	6743769	52385214	7960	28885											
SH2D3A	10045	broad.mit.edu	37	chr19	6760819	6760819	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccggtatgctggggaattgCtcatcctccagttgaaagag	9	10	13	9	1	1	2	1	1	0	1	3	3	3	3	3	3	2	4	3	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6760819C>T	ENST00000245908.6	-	3	518	c.249G>A	c.(247-249)gaG>gaA	p.E83E	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	83	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TGGGGAATTGCTCATCCTCCA	0.642																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(247-249)gaG>gaA		SH2 domain containing 3A							71	69	70					19																	6760819		2203	4300	6503	SO:0001819	synonymous_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6760819C>T	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"SH2 domain containing"	16885	protein-coding gene	gene with protein product		604721	"SH2 domain-containing 3A"			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.249G>A	19.37:g.6760819C>T						SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	p.E83E	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			3	518	-			83			SH2.		A8K9R6|B4DRS7|Q9Y2X4	Silent	SNP	ENST00000245908.6	37	c.249G>A	CCDS12173.1																																																																																				0.642	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		34	44	0	0	0	1	0	34	44					T	6760819	C	T	6760819	2	4	435	1	0	0	0	0	0	0	0	1	14233	796	28	3		3	SH2D3A	19	6760819	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17050	6760819	52368164	7961	28886											
SH2D3A	10045	broad.mit.edu	37	chr19	6760867	6760867	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcggcctggccggggacgCagggccacacggaacacctc	7	3	16	15	4	0	0	0	0	0	0	2	2	0	2	4	7	1	1	4	7	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6760867C>T	ENST00000245908.6	-	3	470	c.201G>A	c.(199-201)ctG>ctA	p.L67L	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	67	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GCCGGGGACGCAGGGCCACAC	0.642																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(199-201)ctG>ctA		SH2 domain containing 3A							49	49	49					19																	6760867		2203	4299	6502	SO:0001819	synonymous_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6760867C>T	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"SH2 domain containing"	16885	protein-coding gene	gene with protein product		604721	"SH2 domain-containing 3A"			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.201G>A	19.37:g.6760867C>T						SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	p.L67L	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			3	470	-			67			SH2.		A8K9R6|B4DRS7|Q9Y2X4	Silent	SNP	ENST00000245908.6	37	c.201G>A	CCDS12173.1																																																																																				0.642	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		7	46	0	0	0	1	0	7	46					T	6760867	C	T	6760867	2	4	435	1	0	0	0	0	0	0	0	1	14233	697	25	3		3	SH2D3A	19	6760867	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	48	6760867	52368116	7962	28887											
INSR	3643	broad.mit.edu	37	chr19	7125510	7125510	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgagacacctcccactcGtccggcacgtacacagagca	10	6	8	17	4	1	2	0	0	1	2	5	3	3	2	3	1	2	3	3	1	1	1	rs369686949		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7125510G>A	ENST00000302850.5	-	17	3184	c.3042C>T	c.(3040-3042)gaC>gaT	p.D1014D	INSR_ENST00000341500.5_Silent_p.D1002D	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1014					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			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(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CCTCCCACTCGTCCGGCACGT	0.567																																						ENST00000341500.5																			0				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						c.(3004-3006)gaC>gaT		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	G	,	0,4406		0,0,2203	92	76	81		3042,3006	0.2	1	19		81	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	INSR	NM_000208.2,NM_001079817.1	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	1014/1383,1002/1371	7125510	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				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	g.chr19:7125510G>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3042C>T	19.37:g.7125510G>A						INSR_ENST00000302850.5_Silent_p.D1014D	p.D1002D	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			16	3045	-			1014					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.3006C>T	CCDS12176.1																																																																																				0.567	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			22	22	0	0	0	1	0	22	22					A	7125510	G	A	7125510	2	1	435	1	0	0	0	0	0	0	0	1	7773	1136	40	1		1	INSR	19	7125510	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	364643	7125510	52003473	7963	28888											
INSR	3643	broad.mit.edu	37	chr19	7166397	7166397	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctgcccgtcgaactcCgtcacattctgataagggct	8	10	9	14	3	2	1	1	1	1	0	5	2	4	1	3	1	2	2	3	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7166397C>T	ENST00000302850.5	-	8	1771	c.1629G>A	c.(1627-1629)acG>acA	p.T543T	INSR_ENST00000341500.5_Silent_p.T543T	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	543					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			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(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CGTCGAACTCCGTCACATTCT	0.537																																						ENST00000341500.5																			0				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						c.(1627-1629)acG>acA		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						78	57	64					19																	7166397		2203	4300	6503	SO:0001819	synonymous_variant	0				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	g.chr19:7166397C>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1629G>A	19.37:g.7166397C>T						INSR_ENST00000302850.5_Silent_p.T543T	p.T543T	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			8	1668	-			543					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.1629G>A	CCDS12176.1																																																																																				0.537	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			13	10	0	0	0	1	0	13	10					T	7166397	C	T	7166397	2	4	435	1	0	0	0	0	0	0	0	1	7773	639	23	2		2	INSR	19	7166397	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	40887	7166397	51962586	7964	28889											
INSR	3643	broad.mit.edu	37	chr19	7267687	7267687	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgtgatccccggatgacCgtgaggttggggaacaggtc	8	8	16	9	3	0	3	0	3	0	0	3	5	1	5	3	5	1	1	3	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7267687C>T	ENST00000302850.5	-	2	463	c.321G>A	c.(319-321)acG>acA	p.T107T	INSR_ENST00000341500.5_Silent_p.T107T	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	107	Leu-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			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(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CCCGGATGACCGTGAGGTTGG	0.527																																						ENST00000341500.5																			0				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						c.(319-321)acG>acA		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						78	73	74					19																	7267687		2203	4300	6503	SO:0001819	synonymous_variant	0				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	g.chr19:7267687C>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.321G>A	19.37:g.7267687C>T						INSR_ENST00000302850.5_Silent_p.T107T	p.T107T	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			2	360	-			107					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.321G>A	CCDS12176.1																																																																																				0.527	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			19	35	0	0	0	1	0	19	35					T	7267687	C	T	7267687	2	4	435	1	0	0	0	0	0	0	0	1	7773	639	23	2		2	INSR	19	7267687	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	101290	7267687	51861296	7965	28890											
MCOLN1	57192	broad.mit.edu	37	chr19	7595240	7595240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggacgacatgtttgtgacGttcgccgccatgcaggcgca	7	8	15	11	5	0	1	0	1	0	0	1	3	0	2	2	3	1	4	2	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7595240G>A	ENST00000264079.6	+	12	1553	c.1428G>A	c.(1426-1428)acG>acA	p.T476T		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	476					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGTTTGTGACGTTCGCCGCCA	0.607																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1426-1428)acG>acA		mucolipin 1							216	203	207					19																	7595240		2203	4300	6503	SO:0001819	synonymous_variant	57192				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	g.chr19:7595240G>A	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1428G>A	19.37:g.7595240G>A							p.T476T	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			12	1553	+			476					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Silent	SNP	ENST00000264079.6	37	c.1428G>A	CCDS12180.1																																																																																				0.607	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		52	86	0	0	0	1	0	52	86					A	7595240	G	A	7595240	2	1	435	1	0	0	0	0	0	0	0	1	9395	1132	40	1		1	MCOLN1	19	7595240	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	327553	7595240	51533743	7966	28891											
PNPLA6	10908	broad.mit.edu	37	chr19	7606907	7606907	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatccctggaaaccccctcGgcccctctgctgagccgctg	6	7	9	19	2	1	1	0	1	1	0	3	2	2	2	6	2	3	2	6	2	1	0	rs376895691		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7606907G>A	ENST00000221249.6	+	13	1520	c.1089G>A	c.(1087-1089)tcG>tcA	p.S363S	PNPLA6_ENST00000414982.3_Silent_p.S411S|PNPLA6_ENST00000545201.2_Silent_p.S363S|PNPLA6_ENST00000600737.1_Silent_p.S402S|PNPLA6_ENST00000450331.3_Silent_p.S363S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	402					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AAACCCCCTCGGCCCCTCTGC	0.627																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1087-1089)tcG>tcA		patatin-like phospholipase domain containing 6		G	,,,,	0,4406		0,0,2203	53	53	53		1233,1089,1089,1206,1089	-11.3	0	19		53	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PNPLA6	NM_001166111.1,NM_001166112.1,NM_001166113.1,NM_001166114.1,NM_006702.4	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	411/1376,363/1301,363/1328,402/1366,363/1328	7606907	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7606907G>A	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1089G>A	19.37:g.7606907G>A						PNPLA6_ENST00000414982.3_Silent_p.S411S|PNPLA6_ENST00000600737.1_Silent_p.S402S|PNPLA6_ENST00000545201.2_Silent_p.S363S|PNPLA6_ENST00000450331.3_Silent_p.S363S	p.S363S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			13	1520	+			402					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	c.1089G>A	CCDS32891.1																																																																																				0.627	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		16	24	0	0	0	1	0	16	24					A	7606907	G	A	7606907	2	1	435	1	0	0	0	0	0	0	0	1	12169	1103	39	2		2	PNPLA6	19	7606907	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11667	7606907	51522076	7967	28892											
PNPLA6	10908	broad.mit.edu	37	chr19	7607506	7607506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcgtggccggatctccGtgtccctgcaggaagaggcc	7	7	15	12	3	1	2	0	1	1	1	3	4	2	4	4	4	2	1	4	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7607506G>A	ENST00000221249.6	+	14	1626	c.1195G>A	c.(1195-1197)Gtg>Atg	p.V399M	PNPLA6_ENST00000414982.3_Missense_Mutation_p.V447M|PNPLA6_ENST00000545201.2_Missense_Mutation_p.V399M|PNPLA6_ENST00000600737.1_Missense_Mutation_p.V438M|PNPLA6_ENST00000450331.3_Missense_Mutation_p.V399M	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	438					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CCGGATCTCCGTGTCCCTGCA	0.677																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1195-1197)Gtg>Atg		patatin-like phospholipase domain containing 6							27	32	30					19																	7607506		2202	4299	6501	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7607506G>A	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1195G>A	19.37:g.7607506G>A	ENSP00000221249:p.Val399Met					PNPLA6_ENST00000414982.3_Missense_Mutation_p.V447M|PNPLA6_ENST00000600737.1_Missense_Mutation_p.V438M|PNPLA6_ENST00000545201.2_Missense_Mutation_p.V399M|PNPLA6_ENST00000450331.3_Missense_Mutation_p.V399M	p.V399M	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			14	1626	+			438					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.1195G>A	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689745	0.29962	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000544207;ENST00000450331	T;T;T;T	0.04454	3.69;3.62;3.69;3.69	5.24	1.9	0.25705	.	0.338573	0.30085	N	0.010450	T	0.04907	0.0132	L	0.51422	1.61	0.35697	D	0.815318	B;B;B;B	0.18013	0.006;0.025;0.011;0.006	B;B;B;B	0.20577	0.007;0.03;0.016;0.01	T	0.28299	-1.0048	10	0.35671	T	0.21	.	5.3463	0.16010	0.1824:0.1668:0.6508:0.0	.	438;399;438;399	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	M	399;399;447;336;399	ENSP00000221249:V399M;ENSP00000443323:V399M;ENSP00000407509:V447M;ENSP00000394348:V399M	ENSP00000221249:V399M	V	+	1	0	PNPLA6	7513506	0.876000	0.30132	0.349000	0.25694	0.643000	0.38383	0.524000	0.22940	0.207000	0.20607	-0.140000	0.14226	GTG		0.677	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		14	19	0	0	0	1	0	14	19					A	7607506	G	A	7607506	3	1	435	1	0	0	0	0	1	0	0	0	12169	1145	40	1	1385	1	PNPLA6	19	7607506	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	599	7607506	51521477	7968	28893											
XAB2	56949	broad.mit.edu	37	chr19	7687308	7687308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgatacgcaggtccaggatgCggtcgtacacggccttggtg	7	8	15	11	5	0	0	0	0	0	0	2	2	1	1	2	5	3	2	2	5	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7687308C>T	ENST00000358368.4	-	12	1563	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	XAB2_ENST00000534844.1_Missense_Mutation_p.R506H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	509					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GTCCAGGATGCGGTCGTACAC	0.617								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1525-1527)cGc>cAc	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							183	151	162					19																	7687308		2203	4300	6503	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7687308C>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1526G>A	19.37:g.7687308C>T	ENSP00000351137:p.Arg509His					XAB2_ENST00000534844.1_Missense_Mutation_p.R506H	p.R509H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			12	1563	-			509					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.1526G>A	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402598	0.83230	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.47528	0.84;0.84	4.66	4.66	0.58398	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.71779	0.3380	M	0.92738	3.34	0.80722	D	1	D	0.69078	0.997	P	0.57244	0.816	T	0.81385	-0.0957	10	0.87932	D	0	-16.3196	16.3303	0.83006	0.0:1.0:0.0:0.0	.	509	Q9HCS7	SYF1_HUMAN	H	509;506	ENSP00000351137:R509H;ENSP00000438225:R506H	ENSP00000351137:R509H	R	-	2	0	XAB2	7593308	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	7.519000	0.81809	2.144000	0.66660	0.462000	0.41574	CGC		0.617	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		48	72	0	0	0	1	0	48	72					T	7687308	C	T	7687308	3	4	435	1	0	0	0	0	1	0	0	0	17415	768	27	1	1073	1	XAB2	19	7687308	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	79802	7687308	51441675	7969	28894											
XAB2	56949	broad.mit.edu	37	chr19	7687517	7687517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgaaccatcaaagtactCggcccggcgggcaggcagcg	9	5	13	14	4	2	1	1	1	1	0	3	1	2	1	2	4	3	3	2	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7687517C>T	ENST00000358368.4	-	11	1439	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	XAB2_ENST00000534844.1_Missense_Mutation_p.E465K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	468					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TCAAAGTACTCGGCCCGGCGG	0.667								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1402-1404)Gag>Aag	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							36	37	37					19																	7687517		2203	4299	6502	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7687517C>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1402G>A	19.37:g.7687517C>T	ENSP00000351137:p.Glu468Lys					XAB2_ENST00000534844.1_Missense_Mutation_p.E465K	p.E468K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			11	1439	-			468					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.1402G>A	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137679	0.37728	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.03441	3.93;3.93	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.03263	0.0095	L	0.31207	0.915	0.80722	D	1	B	0.22683	0.073	B	0.11329	0.006	T	0.36915	-0.9728	10	0.07325	T	0.83	-32.6766	15.4833	0.75545	0.0:1.0:0.0:0.0	.	468	Q9HCS7	SYF1_HUMAN	K	468;465	ENSP00000351137:E468K;ENSP00000438225:E465K	ENSP00000351137:E468K	E	-	1	0	XAB2	7593517	1.000000	0.71417	0.999000	0.59377	0.437000	0.31866	7.331000	0.79192	2.176000	0.68965	0.561000	0.74099	GAG		0.667	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		15	28	0	0	0	1	0	15	28					T	7687517	C	T	7687517	3	4	435	1	0	0	0	0	1	0	0	0	17415	893	31	2	1201	2	XAB2	19	7687517	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	209	7687517	51441466	7970	28895											
PCP2	126006	broad.mit.edu	37	chr19	7697340	7697340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacacgttggtcatccatgCggcggccctgggtactggcc	5	9	13	14	3	2	0	2	0	0	0	3	0	3	0	3	5	2	2	3	5	1	2	rs572670156		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7697340C>T	ENST00000311069.5	-	3	520	c.230G>A	c.(229-231)cGc>cAc	p.R77H	PCP2_ENST00000598935.1_Missense_Mutation_p.R61H|CTD-3214H19.6_ENST00000601797.1_RNA|XAB2_ENST00000534844.1_5'Flank|XAB2_ENST00000358368.4_5'Flank|CTD-3214H19.4_ENST00000595866.1_Intron	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	77	GoLoco 2. {ECO:0000255|PROSITE- ProRule:PRU00097}.				rhodopsin mediated signaling pathway (GO:0016056)	neuronal cell body (GO:0043025)	GTPase regulator activity (GO:0030695)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|urinary_tract(1)	2						GTCATCCATGCGGCGGCCCTG	0.637													C|||	1	0.000199681	0	0	5008	,	,		17309	0.001		0	False		,,,				2504	0					ENST00000311069.5																			0				endometrium(1)|urinary_tract(1)	2						c.(229-231)cGc>cAc		Purkinje cell protein 2							85	84	84					19																	7697340		2203	4300	6503	SO:0001583	missense	126006				signal transduction		GTPase activator activity	g.chr19:7697340C>T	BC025387	CCDS32893.1, CCDS62521.1	19p13.3	2008-02-05				ENSG00000174788			30209	protein-coding gene	gene with protein product						12477932	Standard	NM_174895		Approved	MGC41903, GPSM4	uc031rjd.1	Q8IVA1		ENST00000311069.5:c.230G>A	19.37:g.7697340C>T	ENSP00000310585:p.Arg77His					CTD-3214H19.4_ENST00000595866.1_Intron|PCP2_ENST00000598935.1_Missense_Mutation_p.R61H	p.R77H	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN			3	520	-			77			GoLoco 2.		M0R2R7|Q3KRG7	Missense_Mutation	SNP	ENST00000311069.5	37	c.230G>A	CCDS32893.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501174	0.85176	.	.	ENSG00000174788	ENST00000311069	.	.	.	4.9	3.79	0.43588	GoLoco motif (3);	0.000000	0.56097	D	0.000030	T	0.77465	0.4134	M	0.81341	2.54	0.40346	D	0.979088	D	0.89917	1.0	D	0.79784	0.993	T	0.81055	-0.1106	9	0.87932	D	0	-21.7923	11.1955	0.48711	0.1837:0.8163:0.0:0.0	.	77	Q8IVA1	PCP2_HUMAN	H	77	.	ENSP00000310585:R77H	R	-	2	0	PCP2	7603340	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.390000	0.52523	2.237000	0.73441	0.549000	0.68633	CGC		0.637	PCP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461026.2	XM_058956		26	49	0	0	0	1	0	26	49					T	7697340	C	T	7697340	3	4	435	1	0	0	0	0	1	0	0	0	11597	768	27	1	188	1	PCP2	19	7697340	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9823	7697340	51431643	7971	28896											
STXBP2	6813	broad.mit.edu	37	chr19	7709605	7709605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgcctacgacaagatcCgggtcctgctgctctacatc	7	9	9	16	3	1	1	0	0	1	1	4	2	3	1	4	1	5	2	4	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7709605C>T	ENST00000221283.5	+	14	1244	c.1213C>T	c.(1213-1215)Cgg>Tgg	p.R405W	STXBP2_ENST00000414284.2_Missense_Mutation_p.R402W|STXBP2_ENST00000602355.1_5'Flank|STXBP2_ENST00000441779.2_Missense_Mutation_p.R416W	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	405			R -> Q (in FHL5; leads to a complete loss of the ability to interact with STX11). {ECO:0000269|PubMed:19804848}.|R -> W (in FHL5; leads to a complete loss of the ability to interact with STX11). {ECO:0000269|PubMed:19804848}.		leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGACAAGATCCGGGTCCTGCT	0.632																																						ENST00000441779.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1246-1248)Cgg>Tgg		syntaxin binding protein 2							66	49	55					19																	7709605		2203	4299	6502	SO:0001583	missense	6813				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	g.chr19:7709605C>T	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1213C>T	19.37:g.7709605C>T	ENSP00000221283:p.Arg405Trp					STXBP2_ENST00000221283.5_Missense_Mutation_p.R405W|STXBP2_ENST00000414284.2_Missense_Mutation_p.R402W	p.R416W	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN			14	1283	+			405					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.1246C>T	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759040	0.49468	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	D;D;D	0.91464	-2.85;-2.85;-2.85	4.02	1.81	0.25067	.	0.000000	0.85682	D	0.000000	D	0.95133	0.8423	M	0.92122	3.275	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.92968	0.6395	10	0.87932	D	0	-9.8988	6.2034	0.20590	0.1845:0.7134:0.0:0.1021	.	416;416;371;402;405	E7EQD5;B4E175;B4DY46;Q15833-2;Q15833	.;.;.;.;STXB2_HUMAN	W	405;402;416;405	ENSP00000221283:R405W;ENSP00000409471:R402W;ENSP00000413606:R416W	ENSP00000221283:R405W	R	+	1	2	STXBP2	7615605	1.000000	0.71417	0.981000	0.43875	0.072000	0.16883	4.623000	0.61247	0.341000	0.23771	0.591000	0.81541	CGG		0.632	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		16	20	0	0	0	1	0	16	20					T	7709605	C	T	7709605	3	4	435	1	0	0	0	0	1	0	0	0	15352	643	23	2	1267	2	STXBP2	19	7709605	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12265	7709605	51419378	7972	28897											
EVI5L	115704	broad.mit.edu	37	chr19	7925513	7925513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggagcagtcgaggctgCgggagacggagacactgggg	9	4	20	8	3	0	2	0	0	0	2	1	6	0	3	0	6	3	3	0	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7925513C>T	ENST00000270530.4	+	13	1604	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	EVI5L_ENST00000538904.2_Missense_Mutation_p.R481W	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	470					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GTCGAGGCTGCGGGAGACGGA	0.662																																						ENST00000270530.4																			0				breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(1408-1410)Cgg>Tgg		ecotropic viral integration site 5-like							38	34	35					19																	7925513		2200	4298	6498	SO:0001583	missense	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7925513C>T	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.1408C>T	19.37:g.7925513C>T	ENSP00000270530:p.Arg470Trp					EVI5L_ENST00000538904.2_Missense_Mutation_p.R481W	p.R470W	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN			13	1604	+			470					B9A6I9	Missense_Mutation	SNP	ENST00000270530.4	37	c.1408C>T	CCDS12188.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829118	0.71258	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	D;T	0.97455	-4.39;1.41	4.38	3.33	0.38152	.	0.198967	0.44483	D	0.000444	D	0.96965	0.9009	M	0.65975	2.015	0.31434	N	0.672808	D;D	0.71674	0.998;0.998	P;P	0.55260	0.772;0.772	D	0.95795	0.8828	10	0.56958	D	0.05	-37.2376	11.4407	0.50094	0.1816:0.8184:0.0:0.0	.	481;470	B9A6I9;Q96CN4	.;EVI5L_HUMAN	W	470;481	ENSP00000270530:R470W;ENSP00000445905:R481W	ENSP00000270530:R470W	R	+	1	2	EVI5L	7831513	0.776000	0.28616	0.875000	0.34327	0.622000	0.37654	1.169000	0.31871	1.049000	0.40321	0.456000	0.33151	CGG		0.662	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		5	3	0	0	0	1	0	5	3					T	7925513	C	T	7925513	3	4	435	1	0	0	0	0	1	0	0	0	5290	759	27	1	1491	1	EVI5L	19	7925513	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	215908	7925513	51203470	7973	28898											
LRRC8E	80131	broad.mit.edu	37	chr19	7965683	7965683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggcaaccgcttagaggCgctgccagaagaacttggca	13	5	12	11	2	0	3	0	0	0	3	0	3	0	3	2	3	3	4	2	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7965683C>T	ENST00000306708.6	+	3	2377	c.2276C>T	c.(2275-2277)gCg>gTg	p.A759V	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	759					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						CGCTTAGAGGCGCTGCCAGAA	0.637																																						ENST00000306708.6																			0				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						c.(2275-2277)gCg>gTg		leucine rich repeat containing 8 family, member E							35	40	38					19																	7965683		2203	4298	6501	SO:0001583	missense	80131					integral to membrane		g.chr19:7965683C>T		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.2276C>T	19.37:g.7965683C>T	ENSP00000306524:p.Ala759Val					AC010336.1_ENST00000539278.1_5'UTR	p.A759V	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN			3	2377	+			759					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	c.2276C>T	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.683093	0.00745	.	.	ENSG00000171017	ENST00000306708	T	0.24151	1.87	4.35	1.03	0.20045	.	0.458112	0.23005	N	0.053023	T	0.07999	0.0200	N	0.02830	-0.485	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.36335	-0.9752	10	0.12430	T	0.62	.	5.7974	0.18394	0.0:0.6544:0.1603:0.1853	.	759	Q6NSJ5	LRC8E_HUMAN	V	759	ENSP00000306524:A759V	ENSP00000306524:A759V	A	+	2	0	LRRC8E	7871683	0.000000	0.05858	0.015000	0.15790	0.008000	0.06430	-1.096000	0.03353	0.137000	0.18759	-0.224000	0.12420	GCG		0.637	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		17	23	0	0	0	1	0	17	23					T	7965683	C	T	7965683	3	4	435	1	0	0	0	0	1	0	0	0	9025	768	27	1	2282	1	LRRC8E	19	7965683	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	40170	7965683	51163300	7974	28899											
MAP2K7	5609	broad.mit.edu	37	chr19	7975010	7975010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggctacctgaccatcggggGccaggtaccaccttcactgt	7	8	12	14	1	1	1	1	1	0	0	2	1	1	1	5	4	2	2	5	4	2	3	rs557240660		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7975010G>A	ENST00000397979.3	+	3	383	c.329G>A	c.(328-330)gGc>gAc	p.G110D	CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397981.3_Missense_Mutation_p.G110D|MAP2K7_ENST00000545011.1_Missense_Mutation_p.G110D|MAP2K7_ENST00000397983.3_Missense_Mutation_p.G126D	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	110					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.Q111fs*39(1)		breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						ACCATCGGGGGCCAGGTACCA	0.667													G|||	1	0.000199681	8e-04	0	5008	,	,		14973	0		0	False		,,,				2504	0					ENST00000545011.1																			1	Insertion - Frameshift(1)	p.Q111fs*39(1)	large_intestine(1)	breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(328-330)gGc>gAc		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						25	27	26					19																	7975010		1966	4153	6119	SO:0001583	missense	5609				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	g.chr19:7975010G>A	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.329G>A	19.37:g.7975010G>A	ENSP00000381066:p.Gly110Asp					MAP2K7_ENST00000397981.3_Missense_Mutation_p.G110D|MAP2K7_ENST00000397983.3_Missense_Mutation_p.G126D|MAP2K7_ENST00000397979.3_Missense_Mutation_p.G110D	p.G110D			O14733	MP2K7_HUMAN			3	394	+			110					B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	c.329G>A	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533412	0.85812	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.71817	-0.4;-0.5;-0.6;-0.5	4.8	4.8	0.61643	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.66247	0.2770	L	0.48642	1.525	0.80722	D	1	P;P	0.40398	0.716;0.593	B;B	0.42188	0.379;0.21	T	0.63111	-0.6710	10	0.20046	T	0.44	-12.8954	15.7224	0.77724	0.0:0.0:1.0:0.0	.	110;110	O14733-4;O14733	.;MP2K7_HUMAN	D	110;126;110;126;110	ENSP00000381068:G110D;ENSP00000381070:G126D;ENSP00000443946:G110D;ENSP00000381066:G110D	ENSP00000381066:G110D	G	+	2	0	MAP2K7	7881010	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.142000	0.77339	2.399000	0.81585	0.561000	0.74099	GGC		0.667	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			3	14	0	0	0	1	0	3	14					A	7975010	G	A	7975010	3	1	435	1	0	0	0	0	1	0	0	0	9242	1203	42	3	339	3	MAP2K7	19	7975010	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9327	7975010	51153973	7975	28900											
SNAPC2	6618	broad.mit.edu	37	chr19	7987037	7987037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggacaggaagaccccGcccctgaaatacctagctct	11	6	10	14	1	1	2	0	1	1	1	1	5	1	5	5	3	2	1	5	3	4	2	rs374752327		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7987037G>A	ENST00000221573.6	+	4	541	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	CTD-3193O13.1_ENST00000564226.1_RNA|SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	164					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GGAAGACCCCGCCCCTGAAAT	0.657																																						ENST00000221573.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(490-492)Gcc>Acc		small nuclear RNA activating complex, polypeptide 2, 45kDa		G	THR/ALA	0,4406		0,0,2203	86	92	90		490	-5	0	19		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNAPC2	NM_003083.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	164/335	7987037	1,13005	2203	4300	6503	SO:0001583	missense	6618				snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7987037G>A	U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"small nuclear RNA activating complex, polypeptide 2, 45kD"			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.490G>A	19.37:g.7987037G>A	ENSP00000221573:p.Ala164Thr					SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR	p.A164T	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN			4	541	+			164					B2RBZ6|D6W663|Q13486	Missense_Mutation	SNP	ENST00000221573.6	37	c.490G>A	CCDS12190.1	.	.	.	.	.	.	.	.	.	.	g	12.86	2.064904	0.36470	0.0	1.16E-4	ENSG00000104976	ENST00000221573	T	0.52983	0.64	4.06	-5.03	0.02973	.	1.697640	0.04000	N	0.296264	T	0.40015	0.1100	L	0.50333	1.59	0.09310	N	1	B	0.20988	0.05	B	0.13407	0.009	T	0.44267	-0.9339	10	0.59425	D	0.04	-4.7393	8.4233	0.32714	0.2168:0.1697:0.6135:0.0	.	164	Q13487	SNPC2_HUMAN	T	164	ENSP00000221573:A164T	ENSP00000221573:A164T	A	+	1	0	SNAPC2	7893037	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.148000	0.03185	-0.850000	0.04152	-0.401000	0.06369	GCC		0.657	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083		30	32	0	0	0	1	0	30	32					A	7987037	G	A	7987037	3	1	435	1	0	0	0	0	1	0	0	0	14835	1087	38	1	504	1	SNAPC2	19	7987037	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12027	7987037	51141946	7976	28901											
TIMM44	10469	broad.mit.edu	37	chr19	7992563	7992563	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaccctccaccacctcGcctttggggttcctgaccac	5	9	9	18	1	1	1	1	1	0	0	4	1	3	1	7	3	0	1	7	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7992563G>A	ENST00000270538.3	-	12	1486	c.1218C>T	c.(1216-1218)ggC>ggT	p.G406G	TIMM44_ENST00000598968.1_5'UTR|CTD-3193O13.8_ENST00000594308.1_RNA|CTXN1_ENST00000318978.4_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	406					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CCACCACCTCGCCTTTGGGGT	0.637																																						ENST00000270538.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						c.(1216-1218)ggC>ggT		translocase of inner mitochondrial membrane 44 homolog (yeast)							147	117	127					19																	7992563		2203	4300	6503	SO:0001819	synonymous_variant	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:7992563G>A	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.1218C>T	19.37:g.7992563G>A						TIMM44_ENST00000598968.1_5'UTR	p.G406G	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN			12	1486	-			406					A8K0R9|D6W664|Q8N193	Silent	SNP	ENST00000270538.3	37	c.1218C>T	CCDS12192.1																																																																																				0.637	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3			28	33	0	0	0	1	0	28	33					A	7992563	G	A	7992563	2	1	435	1	0	0	0	0	0	0	0	1	15909	1074	38	1		1	TIMM44	19	7992563	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5526	7992563	51136420	7977	28902											
FBN3	84467	broad.mit.edu	37	chr19	8152025	8152025	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacagacgcacgcgaaggtAccgatgaggttcttgcactc	10	7	13	11	4	1	2	0	1	1	1	2	5	1	3	1	3	2	4	1	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8152025A>G	ENST00000600128.1	-	54	7104	c.6690T>C	c.(6688-6690)ggT>ggC	p.G2230G	FBN3_ENST00000270509.2_Silent_p.G2230G|FBN3_ENST00000601739.1_Silent_p.G2230G			Q75N90	FBN3_HUMAN	fibrillin 3	2230	EGF-like 36; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			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						ACGCGAAGGTACCGATGAGGT	0.622																																						ENST00000600128.1																			0				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						c.(6688-6690)ggT>ggC		fibrillin 3							98	86	90					19																	8152025		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8152025A>G		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6690T>C	19.37:g.8152025A>G						FBN3_ENST00000270509.2_Silent_p.G2230G|FBN3_ENST00000601739.1_Silent_p.G2230G	p.G2230G			Q75N90	FBN3_HUMAN			54	7104	-			2230			EGF-like 36; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.6690T>C	CCDS12196.1																																																																																				0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		16	43	0	0	0	1	0	16	43					G	8152025	A	G	8152025	2	3	435	1	0	0	0	0	0	0	0	1	5704	378	14	4		4	FBN3	19	8152025	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	159462	8152025	50976958	7978	28903											
FBN3	84467	broad.mit.edu	37	chr19	8175995	8175995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcccatctcacattcacagCggtacccgccgggcgcattg	8	7	10	16	4	2	0	2	0	1	0	3	0	2	0	3	2	3	2	3	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8175995C>T	ENST00000600128.1	-	33	4571	c.4157G>A	c.(4156-4158)cGc>cAc	p.R1386H	FBN3_ENST00000270509.2_Missense_Mutation_p.R1386H|FBN3_ENST00000601739.1_Missense_Mutation_p.R1386H			Q75N90	FBN3_HUMAN	fibrillin 3	1386	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			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						ACATTCACAGCGGTACCCGCC	0.652																																						ENST00000600128.1																			0				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						c.(4156-4158)cGc>cAc		fibrillin 3							77	70	72					19																	8175995		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8175995C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4157G>A	19.37:g.8175995C>T	ENSP00000470498:p.Arg1386His					FBN3_ENST00000270509.2_Missense_Mutation_p.R1386H|FBN3_ENST00000601739.1_Missense_Mutation_p.R1386H	p.R1386H			Q75N90	FBN3_HUMAN			33	4571	-			1386			EGF-like 21; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4157G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752347	0.31046	.	.	ENSG00000142449	ENST00000270509	D	0.87571	-2.27	3.67	2.61	0.31194	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.85191	0.5640	N	0.20304	0.555	0.46954	D	0.999261	D	0.69078	0.997	P	0.59948	0.866	D	0.84725	0.0742	10	0.59425	D	0.04	.	10.9886	0.47537	0.0:0.9048:0.0:0.0952	.	1386	Q75N90	FBN3_HUMAN	H	1386	ENSP00000270509:R1386H	ENSP00000270509:R1386H	R	-	2	0	FBN3	8081995	1.000000	0.71417	0.996000	0.52242	0.162000	0.22319	3.553000	0.53713	0.643000	0.30638	0.462000	0.41574	CGC		0.652	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		9	12	0	0	0	1	0	9	12					T	8175995	C	T	8175995	3	4	435	1	0	0	0	0	1	0	0	0	5704	768	27	1	4400	1	FBN3	19	8175995	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	23970	8175995	50952988	7979	28904											
FBN3	84467	broad.mit.edu	37	chr19	8182106	8182106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctgcccacagctgcacCggtagctgccctcagtgtta	7	8	10	16	1	1	0	1	0	0	0	1	0	1	0	4	1	6	5	4	1	2	2	rs149604266	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8182106C>T	ENST00000600128.1	-	28	3947	c.3533G>A	c.(3532-3534)cGg>cAg	p.R1178Q	FBN3_ENST00000270509.2_Missense_Mutation_p.R1178Q|FBN3_ENST00000601739.1_Missense_Mutation_p.R1178Q			Q75N90	FBN3_HUMAN	fibrillin 3	1178	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			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						ACAGCTGCACCGGTAGCTGCC	0.612													C|||	5	0.000998403	0.003	0.0014	5008	,	,		13068	0		0	False		,,,				2504	0					ENST00000600128.1																			0				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						c.(3532-3534)cGg>cAg		fibrillin 3		C	GLN/ARG	15,4391	22.3+/-47.3	0,15,2188	86	68	74		3533	-7.2	0.1	19	dbSNP_134	74	1,8599		0,1,4299	yes	missense	FBN3	NM_032447.3	43	0,16,6487	TT,TC,CC		0.0116,0.3404,0.123	benign	1178/2810	8182106	16,12990	2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8182106C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3533G>A	19.37:g.8182106C>T	ENSP00000470498:p.Arg1178Gln					FBN3_ENST00000270509.2_Missense_Mutation_p.R1178Q|FBN3_ENST00000601739.1_Missense_Mutation_p.R1178Q	p.R1178Q			Q75N90	FBN3_HUMAN			28	3947	-			1178			EGF-like 16; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.3533G>A	CCDS12196.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	12.52	1.963282	0.34659	0.003404	1.16E-4	ENSG00000142449	ENST00000270509	D	0.96491	-4.03	3.68	-7.23	0.01480	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.454634	0.21104	N	0.080110	D	0.85066	0.5612	N	0.03608	-0.345	0.25785	N	0.984686	B	0.09022	0.002	B	0.06405	0.002	T	0.73867	-0.3847	10	0.28530	T	0.3	.	10.1924	0.43035	0.0:0.1089:0.1204:0.7707	.	1178	Q75N90	FBN3_HUMAN	Q	1178	ENSP00000270509:R1178Q	ENSP00000270509:R1178Q	R	-	2	0	FBN3	8088106	0.953000	0.32496	0.113000	0.21522	0.732000	0.41865	0.036000	0.13819	-1.436000	0.01970	0.313000	0.20887	CGG		0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		10	13	0	0	0	1	0	10	13					T	8182106	C	T	8182106	3	4	435	1	0	0	0	0	1	0	0	0	5704	652	23	2	5044	2	FBN3	19	8182106	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6111	8182106	50946877	7980	28905											
NDUFA7	4701	broad.mit.edu	37	chr19	8381425	8381425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccttctgcgacgacatgAtgatggaagggggcacagat	10	7	15	9	3	1	3	0	2	1	1	1	6	1	4	1	3	1	1	1	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8381425A>G	ENST00000301457.2	-	3	243	c.206T>C	c.(205-207)aTc>aCc	p.I69T	NDUFA7_ENST00000598884.1_Missense_Mutation_p.I69T	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	69					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						CGACGACATGATGATGGAAGG	0.617																																						ENST00000301457.2																			0				NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						c.(205-207)aTc>aCc		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	NADH(DB00157)						71	77	75					19																	8381425		2066	4204	6270	SO:0001583	missense	4701				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:8381425A>G	AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"Mitochondrial respiratory chain complex / Complex I"	7691	protein-coding gene	gene with protein product	"complex I B14.5a subunit"	602139	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.206T>C	19.37:g.8381425A>G	ENSP00000301457:p.Ile69Thr					NDUFA7_ENST00000598884.1_Missense_Mutation_p.I69T	p.I69T	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN			3	243	-			69						Missense_Mutation	SNP	ENST00000301457.2	37	c.206T>C	CCDS42492.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.578429	0.45902	.	.	ENSG00000167774	ENST00000301457	T	0.53423	0.62	5.74	4.72	0.59763	.	0.580241	0.17675	N	0.165833	T	0.47930	0.1472	M	0.70595	2.14	0.37929	D	0.931954	B	0.31459	0.324	B	0.31390	0.129	T	0.53578	-0.8419	10	0.72032	D	0.01	-13.3972	10.4282	0.44391	0.9232:0.0:0.0768:0.0	.	69	O95182	NDUA7_HUMAN	T	69	ENSP00000301457:I69T	ENSP00000301457:I69T	I	-	2	0	NDUFA7	8287425	0.989000	0.36119	0.774000	0.31636	0.346000	0.29079	8.859000	0.92264	1.014000	0.39417	0.459000	0.35465	ATC		0.617	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461373.1	NM_005001		31	31	0	0	0	1	0	31	31					G	8381425	A	G	8381425	3	3	435	1	0	0	0	0	1	0	0	0	10270	333	12	4	143	4	NDUFA7	19	8381425	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	199319	8381425	50747558	7981	28906											
RAB11B	9230	broad.mit.edu	37	chr19	8464808	8464808	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcgcgcttcacccgcaaCgagttcaacctggagagcaa	10	7	10	14	4	2	1	2	0	0	1	3	3	2	1	2	1	3	4	2	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8464808C>T	ENST00000328024.6	+	2	320	c.102C>T	c.(100-102)aaC>aaT	p.N34N	RAB11B_ENST00000594216.1_Silent_p.N34N|RAB11B_ENST00000601897.1_Intron	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	34					cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(1)|ovary(1)	4						TCACCCGCAACGAGTTCAACC	0.632																																						ENST00000328024.6																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(100-102)aaC>aaT		RAB11B, member RAS oncogene family							94	79	84					19																	8464808		2203	4300	6503	SO:0001819	synonymous_variant	9230				cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr19:8464808C>T	X79780	CCDS12201.1	19p13.2	2012-07-02			ENSG00000185236	ENSG00000185236		"RAB, member RAS oncogene"	9761	protein-coding gene	gene with protein product		604198				7811277	Standard	NM_004218		Approved	H-YPT3	uc002mju.4	Q15907		ENST00000328024.6:c.102C>T	19.37:g.8464808C>T						RAB11B_ENST00000594216.1_Silent_p.N34N|RAB11B_ENST00000601897.1_Intron	p.N34N	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN			2	320	+			34					A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Silent	SNP	ENST00000328024.6	37	c.102C>T	CCDS12201.1																																																																																				0.632	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460343.2	NM_004218		7	27	0	0	0	1	0	7	27					T	8464808	C	T	8464808	2	4	435	1	0	0	0	0	0	0	0	1	12892	535	19	1		1	RAB11B	19	8464808	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	83383	8464808	50664175	7982	28907											
MYO1F	4542	broad.mit.edu	37	chr19	8612935	8612935	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccacctgctcggccttcagGgtaagttcgataaagatttg	9	11	10	11	2	1	1	1	0	0	1	3	2	1	1	3	2	1	3	3	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8612935G>A	ENST00000338257.8	-	12	1521	c.1254C>T	c.(1252-1254)acC>acT	p.T418T	AC092316.2_ENST00000581156.1_RNA|AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	418	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGGCCTTCAGGGTAAGTTCGA	0.547																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1252-1254)acC>acT		myosin IF							98	93	94					19																	8612935		1878	4106	5984	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8612935G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1254C>T	19.37:g.8612935G>A							p.T418T	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			12	1521	-			418			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.1254C>T	CCDS42494.1																																																																																				0.547	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			38	54	0	0	0	1	0	38	54					A	8612935	G	A	8612935	2	1	435	1	0	0	0	0	0	0	0	1	10073	1219	43	3		3	MYO1F	19	8612935	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	148127	8612935	50516048	7983	28908											
MYO1F	4542	broad.mit.edu	37	chr19	8613157	8613157	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtaaatgtccagcacaccGatgctgtactcttcctgggg	8	10	10	13	2	1	0	0	0	1	0	3	1	3	0	4	2	3	4	4	2	3	3	rs542097693	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8613157G>A	ENST00000338257.8	-	11	1413	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	AC092316.2_ENST00000581156.1_RNA|AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	382	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCAGCACACCGATGCTGTACT	0.612													G|||	5	0.000998403	0	0	5008	,	,		15623	0		0	False		,,,				2504	0.0051					ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1144-1146)atC>atT		myosin IF							91	99	96					19																	8613157		2013	4187	6200	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8613157G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1146C>T	19.37:g.8613157G>A							p.I382I	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			11	1413	-			382			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.1146C>T	CCDS42494.1																																																																																				0.612	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			17	19	0	0	0	1	0	17	19					A	8613157	G	A	8613157	2	1	435	1	0	0	0	0	0	0	0	1	10073	1048	37	2		2	MYO1F	19	8613157	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	222	8613157	50515826	7984	28909											
ADAMTS10	81794	broad.mit.edu	37	chr19	8660982	8660982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagctggtgatgtagtcacGgctgcaggatgaccacacga	12	7	13	9	2	1	2	1	2	0	0	1	4	1	3	1	3	2	4	1	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8660982G>A	ENST00000597188.1	-	11	1582	c.1312C>T	c.(1312-1314)Cgt>Tgt	p.R438C	ADAMTS10_ENST00000596709.1_5'Flank|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.R438C	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	438	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ATGTAGTCACGGCTGCAGGAT	0.582																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(1312-1314)Cgt>Tgt		ADAM metallopeptidase with thrombospondin type 1 motif, 10							107	102	104					19																	8660982		2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8660982G>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1312C>T	19.37:g.8660982G>A	ENSP00000471851:p.Arg438Cys					ADAMTS10_ENST00000597188.1_Missense_Mutation_p.R438C	p.R438C			Q9H324	ATS10_HUMAN			10	1578	-			438			Peptidase M12B.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.1312C>T	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415492	0.62511	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.08896	3.04	4.27	4.27	0.50696	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000001	T	0.35508	0.0934	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.982	T	0.40924	-0.9537	10	0.87932	D	0	.	11.6519	0.51295	0.0:0.0:0.8096:0.1904	.	192;438	Q59FE5;Q9H324	.;ATS10_HUMAN	C	438;192	ENSP00000270328:R438C	ENSP00000270328:R438C	R	-	1	0	ADAMTS10	8566982	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.918000	0.56432	2.205000	0.71048	0.313000	0.20887	CGT		0.582	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		33	43	0	0	0	1	0	33	43					A	8660982	G	A	8660982	3	1	435	1	0	0	0	0	1	0	0	0	256	1116	39	2	2063	2	ADAMTS10	19	8660982	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	47825	8660982	50468001	7985	28910											
ADAMTS10	81794	broad.mit.edu	37	chr19	8668659	8668659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggtgacgcagagaggaaCgcttgtacaccacatgtggt	10	7	16	8	2	0	2	0	1	0	1	0	4	0	3	1	4	2	3	1	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8668659C>T	ENST00000597188.1	-	5	815	c.545G>A	c.(544-546)cGt>cAt	p.R182H	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.R182H	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	182						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R182H(14)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CAGAGAGGAACGCTTGTACAC	0.587																																						ENST00000270328.4																			14	Substitution - Missense(14)	p.R182H(14)	kidney(14)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(544-546)cGt>cAt		ADAM metallopeptidase with thrombospondin type 1 motif, 10							110	81	91					19																	8668659		2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8668659C>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.545G>A	19.37:g.8668659C>T	ENSP00000471851:p.Arg182His					ADAMTS10_ENST00000597188.1_Missense_Mutation_p.R182H|ADAMTS10_ENST00000596709.1_5'UTR	p.R182H			Q9H324	ATS10_HUMAN			4	811	-			182					M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.545G>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062364	0.93898	.	.	ENSG00000142303	ENST00000270328	T	0.62232	0.04	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000002	T	0.69305	0.3096	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.69676	-0.5081	10	0.48119	T	0.1	.	18.8667	0.92294	0.0:1.0:0.0:0.0	.	182	Q9H324	ATS10_HUMAN	H	182	ENSP00000270328:R182H	ENSP00000270328:R182H	R	-	2	0	ADAMTS10	8574659	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	5.537000	0.67186	2.705000	0.92388	0.585000	0.79938	CGT		0.587	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		12	19	0	0	0	1	0	12	19					T	8668659	C	T	8668659	3	4	435	1	0	0	0	0	1	0	0	0	256	536	19	1	2854	1	ADAMTS10	19	8668659	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7677	8668659	50460324	7986	28911											
ADAMTS10	81794	broad.mit.edu	37	chr19	8670528	8670528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagaccggaaggcgtgcGtgacctcgaacatgaggccc	9	6	14	12	4	0	3	0	3	0	1	1	6	0	4	3	3	2	0	3	3	2	1	rs376131325	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8670528G>A	ENST00000597188.1	-	3	338	c.68C>T	c.(67-69)aCg>aTg	p.T23M	ADAMTS10_ENST00000596709.1_Intron|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.T23M	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	23						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GAAGGCGTGCGTGACCTCGAA	0.632													G|||	2	0.000399361	0	0	5008	,	,		13977	0.002		0	False		,,,				2504	0					ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(67-69)aCg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 10							34	31	32					19																	8670528		2201	4300	6501	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8670528G>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.68C>T	19.37:g.8670528G>A	ENSP00000471851:p.Thr23Met					ADAMTS10_ENST00000597188.1_Missense_Mutation_p.T23M|ADAMTS10_ENST00000596709.1_Intron	p.T23M			Q9H324	ATS10_HUMAN			2	334	-			23					M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.68C>T	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052513	0.36181	.	.	ENSG00000142303	ENST00000270328	T	0.60171	0.21	5.52	0.641	0.17759	.	0.249934	0.29760	U	0.011265	T	0.30166	0.0756	N	0.19112	0.55	0.09310	N	1	P	0.41524	0.753	B	0.32583	0.148	T	0.19484	-1.0304	10	0.48119	T	0.1	.	3.6007	0.08023	0.2902:0.0:0.5379:0.1719	.	23	Q9H324	ATS10_HUMAN	M	23	ENSP00000270328:T23M	ENSP00000270328:T23M	T	-	2	0	ADAMTS10	8576528	0.178000	0.23122	0.212000	0.23672	0.969000	0.65631	1.605000	0.36815	0.259000	0.21709	0.561000	0.74099	ACG		0.632	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		4	19	0	0	0	1	0	4	19					A	8670528	G	A	8670528	3	1	435	1	0	0	0	0	1	0	0	0	256	1145	40	1	3339	1	ADAMTS10	19	8670528	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1869	8670528	50458455	7987	28912											
MUC16	94025	broad.mit.edu	37	chr19	8993026	8993026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggtggtgggtacagaGctccgatgggtgaaacctgc	7	9	16	9	1	0	2	0	1	0	1	1	3	1	2	2	4	5	3	2	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8993026G>T	ENST00000397910.4	-	67	41936	c.41733C>A	c.(41731-41733)agC>agA	p.S13911R	MUC16_ENST00000380951.5_Missense_Mutation_p.S552R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13936				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				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						TGGGTACAGAGCTCCGATGGG	0.537																																						ENST00000397910.4																			0				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						c.(41731-41733)agC>agA		mucin 16, cell surface associated							129	118	121					19																	8993026		1912	4130	6042	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8993026G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41733C>A	19.37:g.8993026G>T	ENSP00000381008:p.Ser13911Arg					MUC16_ENST00000380951.5_Missense_Mutation_p.S552R	p.S13911R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			67	41936	-			13914	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.41733C>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.927|9.927	1.213729|1.213729	0.22289|0.22289	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.35236	.|1.32;1.32	2.64|2.64	-1.81|-1.81	0.07882|0.07882	.|.	.|.	.|.	.|.	.|.	T|T	0.46483|0.46483	0.1395|0.1395	.|.	.|.	.|.	.|.	.|.	.|.	.|B;D	.|0.53312	.|0.182;0.959	.|B;D	.|0.70716	.|0.015;0.97	T|T	0.49698|0.49698	-0.8912|-0.8912	3|7	.|0.45353	.|T	.|0.12	.|.	2.8138|2.8138	0.05450|0.05450	0.2886:0.0:0.496:0.2154|0.2886:0.0:0.496:0.2154	.|.	.|21556;13911	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	D|R	751|13911;552	.|ENSP00000381008:S13911R;ENSP00000370338:S552R	.|ENSP00000370338:S552R	A|S	-|-	2|3	0|2	MUC16|MUC16	8854026|8854026	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.111000|0.111000	0.19643|0.19643	-0.235000|-0.235000	0.09016|0.09016	-0.398000|-0.398000	0.07679|0.07679	0.400000|0.400000	0.26472|0.26472	GCT|AGC		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		21	40	1	0	2.70639e-06	1	2.81266e-06	21	40					T	8993026	G	T	8993026	3	4	435	1	0	0	0	0	1	0	0	0	9973	962	34	5	1862	5	MUC16	19	8993026	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	322498	8993026	50135957	7988	28913											
MUC16	94025	broad.mit.edu	37	chr19	8997151	8997151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcagccagagtacagaGggccaacactggtgctcttg	9	8	13	11	0	2	2	0	0	2	2	2	2	2	2	2	2	5	3	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8997151G>T	ENST00000397910.4	-	60	41248	c.41045C>A	c.(41044-41046)cCt>cAt	p.P13682H	MUC16_ENST00000380951.5_Missense_Mutation_p.P323H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13684	SEA 11. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				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						AGAGTACAGAGGGCCAACACT	0.552																																						ENST00000397910.4																			0				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						c.(41044-41046)cCt>cAt		mucin 16, cell surface associated							113	93	99					19																	8997151		1986	4167	6153	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8997151G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41045C>A	19.37:g.8997151G>T	ENSP00000381008:p.Pro13682His					MUC16_ENST00000380951.5_Missense_Mutation_p.P323H	p.P13682H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			60	41248	-			13684	Missing (in Ref. 3; AAK74120).		SEA 11.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.41045C>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	6.717|6.717	0.501018|0.501018	0.12822|0.12822	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.38401	.|1.14;1.14	2.76|2.76	0.546|0.546	0.17196|0.17196	.|SEA (2);	.|.	.|.	.|.	.|.	T|T	0.46756|0.46756	0.1409|0.1409	L|L	0.57536|0.57536	1.79|1.79	.|.	.|.	.|.	.|B;D	.|0.76494	.|0.005;0.999	.|B;D	.|0.81914	.|0.012;0.995	T|T	0.51076|0.51076	-0.8751|-0.8751	4|8	.|0.38643	.|T	.|0.18	0.3711|0.3711	3.5167|3.5167	0.07727|0.07727	0.1385:0.0:0.6155:0.246|0.1385:0.0:0.6155:0.246	.|.	.|21327;13682	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	I|H	522|13682;323	.|ENSP00000381008:P13682H;ENSP00000370338:P323H	.|ENSP00000370338:P323H	L|P	-|-	1|2	0|0	MUC16|MUC16	8858151|8858151	0.010000|0.010000	0.17322|0.17322	0.000000|0.000000	0.03702|0.03702	0.161000|0.161000	0.22273|0.22273	1.827000|1.827000	0.39102|0.39102	0.234000|0.234000	0.21139|0.21139	-0.508000|-0.508000	0.04489|0.04489	CTC|CCT		0.552	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		29	49	1	0	1.36161e-19	1	1.50697e-19	29	49					T	8997151	G	T	8997151	3	4	435	1	0	0	0	0	1	0	0	0	9973	1000	35	5	2578	5	MUC16	19	8997151	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4125	8997151	50131832	7989	28914											
MUC16	94025	broad.mit.edu	37	chr19	9025600	9025600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taagttctcacctgagcaagGtcaatctgcagccagagtac	12	9	9	11	0	3	2	2	1	2	1	4	2	3	2	2	1	4	4	2	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9025600G>A	ENST00000397910.4	-	15	37057	c.36854C>T	c.(36853-36855)aCc>aTc	p.T12285I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12287	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				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						CCTGAGCAAGGTCAATCTGCA	0.517																																						ENST00000397910.4																			0				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						c.(36853-36855)aCc>aTc		mucin 16, cell surface associated							112	102	105					19																	9025600		1967	4159	6126	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9025600G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36854C>T	19.37:g.9025600G>A	ENSP00000381008:p.Thr12285Ile						p.T12285I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			15	37057	-			12287			SEA 2.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.36854C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	8.673	0.903252	0.17760	.	.	ENSG00000181143	ENST00000397910	T	0.21543	2.0	2.81	-1.14	0.09741	.	.	.	.	.	T	0.21718	0.0523	M	0.78456	2.415	.	.	.	B	0.09022	0.002	B	0.15052	0.012	T	0.32745	-0.9895	8	0.87932	D	0	.	3.5749	0.07930	0.2659:0.209:0.5251:0.0	.	12285	B5ME49	.	I	12285	ENSP00000381008:T12285I	ENSP00000381008:T12285I	T	-	2	0	MUC16	8886600	0.000000	0.05858	0.017000	0.16124	0.002000	0.02628	-0.846000	0.04336	-0.097000	0.12307	-1.026000	0.02426	ACC		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		29	46	0	0	0	1	0	29	46					A	9025600	G	A	9025600	3	1	435	1	0	0	0	0	1	0	0	0	9973	1261	44	3	6949	3	MUC16	19	9025600	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28449	9025600	50103383	7990	28915											
MUC16	94025	broad.mit.edu	37	chr19	9033726	9033726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgaatggcaccatgaatgGgactgtggctgctgcaagga	10	8	16	7	0	0	2	0	2	0	0	0	4	0	4	1	5	2	4	1	5	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9033726G>A	ENST00000397910.4	-	9	36414	c.36211C>T	c.(36211-36213)Cca>Tca	p.P12071S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12073	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				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						ACCATGAATGGGACTGTGGCT	0.532																																						ENST00000397910.4																			0				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						c.(36211-36213)Cca>Tca		mucin 16, cell surface associated							115	113	113					19																	9033726		2096	4224	6320	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9033726G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36211C>T	19.37:g.9033726G>A	ENSP00000381008:p.Pro12071Ser						p.P12071S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			9	36414	-			12073			SEA 1.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.36211C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775799	0.31411	.	.	ENSG00000181143	ENST00000397910	T	0.32988	1.43	3.73	2.69	0.31865	.	.	.	.	.	T	0.49321	0.1550	M	0.79475	2.455	.	.	.	D	0.54964	0.969	D	0.63033	0.91	T	0.61855	-0.6977	8	0.87932	D	0	.	7.266	0.26229	0.121:0.0:0.879:0.0	.	12071	B5ME49	.	S	12071	ENSP00000381008:P12071S	ENSP00000381008:P12071S	P	-	1	0	MUC16	8894726	0.029000	0.19370	0.006000	0.13384	0.005000	0.04900	1.036000	0.30228	1.153000	0.42468	0.650000	0.86243	CCA		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	29	0	0	0	1	0	9	29					A	9033726	G	A	9033726	3	1	435	1	0	0	0	0	1	0	0	0	9973	1232	43	3	7616	3	MUC16	19	9033726	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8126	9033726	50095257	7991	28916											
MUC16	94025	broad.mit.edu	37	chr19	9059156	9059157	+	Frame_Shift_Ins	INS	-	-	T																															ccagggaagatggagggctgINStttttttccacagacagcgg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9059156_9059157insT	ENST00000397910.4	-	3	28492_28493	c.28289_28290insA	c.(28288-28290)aacfs	p.N9430fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9432	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				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																																						ENST00000397910.4																			0				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						c.(28288-28290)aagfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059156_9059157insT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28290dupA	19.37:g.9059163_9059163dupT	ENSP00000381008:p.Asn9430fs						p.K9430fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	28492_28493	-			9432			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.28289_28290insA	CCDS54212.1																																																																																				0.51	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		57	68						57	68	---	---	---	---	T	9059157	-	T	9059156	7	5	435	1	0	1	1	0	0	0	0	0	9973	1368	48	0	15561	0	MUC16	19	9059156	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	25430	9059156	50069827	7992	28917											
MUC16	94025	broad.mit.edu	37	chr19	9061060	9061060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaggtaccttgtgaggatgCcccagaatgacctgttttgg	10	11	12	8	0	0	3	0	2	0	1	0	4	0	4	4	3	2	2	4	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9061060C>T	ENST00000397910.4	-	3	26589	c.26386G>A	c.(26386-26388)Gca>Aca	p.A8796T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8798	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				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						TGTGAGGATGCCCCAGAATGA	0.512																																						ENST00000397910.4																			0				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						c.(26386-26388)Gca>Aca		mucin 16, cell surface associated							134	122	126					19																	9061060		2013	4180	6193	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061060C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26386G>A	19.37:g.9061060C>T	ENSP00000381008:p.Ala8796Thr						p.A8796T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	26589	-			8798			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.26386G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	10.27	1.303882	0.23736	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.28	1.21	0.21127	.	.	.	.	.	T	0.03263	0.0095	L	0.32530	0.975	.	.	.	P	0.40050	0.7	B	0.43445	0.42	T	0.33317	-0.9873	8	0.87932	D	0	.	4.9615	0.14068	0.0:0.8215:0.0:0.1785	.	8796	B5ME49	.	T	8796	ENSP00000381008:A8796T	ENSP00000381008:A8796T	A	-	1	0	MUC16	8922060	0.000000	0.05858	0.002000	0.10522	0.504000	0.33889	-3.243000	0.00543	0.526000	0.28541	0.298000	0.19748	GCA		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	60	0	0	0	1	0	14	60					T	9061060	C	T	9061060	3	4	435	1	0	0	0	0	1	0	0	0	9973	739	26	3	17465	3	MUC16	19	9061060	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1904	9061060	50067923	7993	28918											
MUC16	94025	broad.mit.edu	37	chr19	9066185	9066185	+	Silent	SNP	A	A	G																															ctgggattttccagagagggAgagctttgccatgacatatc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9066185A>G	ENST00000397910.4	-	3	21464	c.21261T>C	c.(21259-21261)tcT>tcC	p.S7087S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7089	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				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						CCAGAGAGGGAGAGCTTTGCC	0.502																																						ENST00000397910.4																			0				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						c.(21259-21261)tcT>tcC		mucin 16, cell surface associated							143	145	144					19																	9066185		2021	4169	6190	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066185A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21261T>C	19.37:g.9066185A>G							p.S7087S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	21464	-			7089			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.21261T>C	CCDS54212.1																																																																																				0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	28	0	0	0	1	0	8	28					G	9066185	A	G	9066185	2	3	435	1	0	0	0	0	0	0	0	1	9973	291	11	4		4	MUC16	19	9066185	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	5125	9066185	50062798	7994	28919	133	2									
MUC16	94025	broad.mit.edu	37	chr19	9066188	9066188	+	Silent	SNP	G	G	A																															ggattttccagagagggagaGctttgccatgacatatctcc																								rs553857189	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9066188G>A	ENST00000397910.4	-	3	21461	c.21258C>T	c.(21256-21258)agC>agT	p.S7086S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7088	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				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						GAGAGGGAGAGCTTTGCCATG	0.498													G|||	4	0.000798722	0	0	5008	,	,		20100	0		0	False		,,,				2504	0.0041					ENST00000397910.4																			0				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						c.(21256-21258)agC>agT		mucin 16, cell surface associated							142	144	143					19																	9066188		2017	4170	6187	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066188G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21258C>T	19.37:g.9066188G>A							p.S7086S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	21461	-			7088			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.21258C>T	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		18	17	0	0	0	1	0	18	17					A	9066188	G	A	9066188	2	1	435	1	0	0	0	0	0	0	0	1	9973	962	34	3		3	MUC16	19	9066188	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3	9066188	50062795	7995	28920	133	2									
MUC16	94025	broad.mit.edu	37	chr19	9075008	9075008	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagggagggcttggctgTgatgtatcctcaggaccttt	8	11	14	8	0	1	2	1	1	0	1	2	4	2	4	2	4	0	3	2	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9075008T>C	ENST00000397910.4	-	3	12641	c.12438A>G	c.(12436-12438)tcA>tcG	p.S4146S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4148	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				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						GGCTTGGCTGTGATGTATCCT	0.502																																						ENST00000397910.4																			0				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						c.(12436-12438)tcA>tcG		mucin 16, cell surface associated							149	140	143					19																	9075008		2027	4173	6200	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075008T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12438A>G	19.37:g.9075008T>C							p.S4146S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	12641	-			4148			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.12438A>G	CCDS54212.1																																																																																				0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		33	47	0	0	0	1	0	33	47					C	9075008	T	C	9075008	2	2	435	1	0	0	0	0	0	0	0	1	9973	1683	59	4		4	MUC16	19	9075008	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	8820	9075008	50053975	7996	28921											
OR7G1	125962	broad.mit.edu	37	chr19	9226080	9226080	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaatggccacatagcggtcGtaggccatgactgcaagaaa	14	6	11	10	2	0	2	0	1	0	1	1	2	0	2	2	3	2	2	2	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9226080G>A	ENST00000541538.1	-	1	359	c.360C>T	c.(358-360)taC>taT	p.Y120Y	OR7G1_ENST00000293614.1_Silent_p.Y120Y	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CATAGCGGTCGTAGGCCATGA	0.488																																						ENST00000293614.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						c.(358-360)taC>taT		olfactory receptor, family 7, subfamily G, member 1							132	131	131					19																	9226080		2203	4300	6503	SO:0001819	synonymous_variant	125962				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9226080G>A		CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"GPCR / Class A : Olfactory receptors"	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.360C>T	19.37:g.9226080G>A						OR7G1_ENST00000541538.1_Silent_p.Y120Y	p.Y120Y			Q8NGA0	OR7G1_HUMAN			1	359	-			120					Q6IFJ5|Q96RA1	Silent	SNP	ENST00000541538.1	37	c.360C>T	CCDS32898.2																																																																																				0.488	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			36	44	0	0	0	1	0	36	44					A	9226080	G	A	9226080	2	1	435	1	0	0	0	0	0	0	0	1	11222	1140	40	1		1	OR7G1	19	9226080	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	151072	9226080	49902903	7997	28922											
ZNF560	147741	broad.mit.edu	37	chr19	9577923	9577923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatagggtttctctccaGcgtgtgttcgtaaatgtttg	7	17	10	7	2	2	0	1	0	1	0	5	0	3	0	1	1	1	4	1	1	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9577923G>A	ENST00000301480.4	-	10	1913	c.1700C>T	c.(1699-1701)gCt>gTt	p.A567V		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	567					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTTCTCTCCAGCGTGTGTTCG	0.408																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1699-1701)gCt>gTt		zinc finger protein 560							116	107	110					19																	9577923		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9577923G>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1700C>T	19.37:g.9577923G>A	ENSP00000301480:p.Ala567Val						p.A567V	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	1913	-			567					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1700C>T	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	G	9.598	1.127939	0.20959	.	.	ENSG00000198028	ENST00000301480	T	0.17691	2.26	2.05	-2.29	0.06805	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12944	0.0314	L	0.31120	0.905	0.09310	N	1	B	0.15141	0.012	B	0.21917	0.037	T	0.35525	-0.9785	9	0.87932	D	0	.	10.7334	0.46111	0.0:0.5621:0.4379:0.0	.	567	Q96MR9	ZN560_HUMAN	V	567	ENSP00000301480:A567V	ENSP00000301480:A567V	A	-	2	0	ZNF560	9438923	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	0.071000	0.14594	-0.402000	0.07633	0.491000	0.48974	GCT		0.408	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		15	83	0	0	0	1	0	15	83					A	9577923	G	A	9577923	3	1	435	1	0	0	0	0	1	0	0	0	17988	971	34	3	676	3	ZNF560	19	9577923	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	351843	9577923	49551060	7998	28923											
ZNF560	147741	broad.mit.edu	37	chr19	9583864	9583864	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaatactcaccttggagaaCtccttgctgcaaggttctca	11	11	7	12	0	2	1	2	0	1	1	4	2	3	1	2	2	4	3	2	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9583864C>A	ENST00000301480.4	-	5	442	c.229G>T	c.(229-231)Gtt>Ttt	p.V77F		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	77	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CCTTGGAGAACTCCTTGCTGC	0.388																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(229-231)Gtt>Ttt		zinc finger protein 560							196	196	196					19																	9583864		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9583864C>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.229G>T	19.37:g.9583864C>A	ENSP00000301480:p.Val77Phe						p.V77F	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			5	442	-			77			KRAB 1.		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.229G>T	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	6.195	0.404199	0.11754	.	.	ENSG00000198028	ENST00000301480	T	0.05996	3.36	2.85	0.58	0.17402	Krueppel-associated box (1);	.	.	.	.	T	0.04998	0.0134	L	0.42686	1.345	0.09310	N	1	B	0.28636	0.218	B	0.22152	0.038	T	0.40117	-0.9580	9	0.33141	T	0.24	.	3.6873	0.08332	0.0:0.5824:0.2558:0.1618	.	77	Q96MR9	ZN560_HUMAN	F	77	ENSP00000301480:V77F	ENSP00000301480:V77F	V	-	1	0	ZNF560	9444864	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.381000	0.07417	0.214000	0.20742	-0.257000	0.10917	GTT		0.388	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		63	105	1	0	3.33906e-19	1	3.69312e-19	63	105					A	9583864	C	A	9583864	3	1	435	1	0	0	0	0	1	0	0	0	17988	565	20	5	2167	5	ZNF560	19	9583864	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5941	9583864	49545119	7999	28924											
ZNF561	93134	broad.mit.edu	37	chr19	9721558	9721558	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaaaaattagtgaaggatTtcccacatttcttagtcttt	13	15	7	6	0	2	2	0	1	2	1	3	4	3	3	1	1	0	0	1	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9721558T>A	ENST00000302851.3	-	6	1142	c.779A>T	c.(778-780)aAa>aTa	p.K260I	ZNF561_ENST00000424629.1_Missense_Mutation_p.K191I|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000354661.4_Missense_Mutation_p.K124I|ZNF561_ENST00000326044.5_3'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						AGTGAAGGATTTCCCACATTT	0.373																																						ENST00000302851.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						c.(778-780)aAa>aTa		zinc finger protein 561							77	77	77					19																	9721558		2203	4300	6503	SO:0001583	missense	93134				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9721558T>A	AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"Zinc fingers, C2H2-type", "-"	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.779A>T	19.37:g.9721558T>A	ENSP00000303915:p.Lys260Ile					ZNF561_ENST00000354661.4_Missense_Mutation_p.K124I|ZNF561_ENST00000424629.1_Missense_Mutation_p.K191I|ZNF561_ENST00000326044.5_3'UTR	p.K260I	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN			6	1142	-			260					B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	37	c.779A>T	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046376	0.75846	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661;ENST00000444611	T;T;T;T	0.21932	2.8;2.96;2.84;1.98	1.42	1.42	0.22433	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51839	0.1698	H	0.94964	3.605	0.30712	N	0.749127	D	0.65815	0.995	D	0.75484	0.986	T	0.54070	-0.8348	9	0.87932	D	0	.	6.9127	0.24344	0.0:0.0:0.0:1.0	.	260	Q8N587	ZN561_HUMAN	I	191;260;124;266	ENSP00000393074:K191I;ENSP00000303915:K260I;ENSP00000346687:K124I;ENSP00000392013:K266I	ENSP00000303915:K260I	K	-	2	0	ZNF561	9582558	0.030000	0.19436	0.011000	0.14972	0.733000	0.41908	1.821000	0.39041	0.911000	0.36747	0.248000	0.18094	AAA		0.373	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289		14	60	0	0	0	1	0	14	60					A	9721558	T	A	9721558	3	1	435	1	0	0	0	0	1	0	0	0	17989	1841	64	5	685	5	ZNF561	19	9721558	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	137694	9721558	49407425	8000	28925											
ZNF846	162993	broad.mit.edu	37	chr19	9872823	9872823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaatccagacatgagactaCgtttgaataattcagaccct	14	10	6	11	1	1	4	1	2	0	3	2	5	2	4	3	0	1	1	3	0	4	4	rs547131432		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9872823C>T	ENST00000397902.2	-	4	577	c.164G>A	c.(163-165)cGt>cAt	p.R55H	ZNF846_ENST00000586293.1_Missense_Mutation_p.R55H|ZNF846_ENST00000588267.1_5'UTR|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	55	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						CATGAGACTACGTTTGAATAA	0.453																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(163-165)cGt>cAt		zinc finger protein 846							164	162	163					19																	9872823		1885	4122	6007	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9872823C>T	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"Zinc fingers, C2H2-type", "-"	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.164G>A	19.37:g.9872823C>T	ENSP00000380999:p.Arg55His					ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_Missense_Mutation_p.R55H|ZNF846_ENST00000588267.1_5'UTR	p.R55H	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			4	577	-			55			KRAB.		A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.164G>A	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	5.088	0.201952	0.09652	.	.	ENSG00000196605	ENST00000397902	T	0.00792	5.69	2.15	-0.0364	0.13888	Krueppel-associated box (3);	.	.	.	.	T	0.00580	0.0019	N	0.17674	0.51	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45205	-0.9277	8	.	.	.	.	3.6293	0.08126	0.1588:0.2619:0.5793:0.0	.	55	Q147U1	ZN846_HUMAN	H	55	ENSP00000380999:R55H	.	R	-	2	0	ZNF846	9733823	0.020000	0.18652	0.002000	0.10522	0.000000	0.00434	-0.063000	0.11655	0.073000	0.16731	-1.315000	0.01301	CGT		0.453	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		36	79	0	0	0	1	0	36	79					T	9872823	C	T	9872823	3	4	435	1	0	0	0	0	1	0	0	0	18189	536	19	1	1449	1	ZNF846	19	9872823	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	151265	9872823	49256160	8001	28926											
OLFM2	93145	broad.mit.edu	37	chr19	9965200	9965200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggctgaccacgatgttgcCcgcgttctggttggtggtgt	3	12	15	11	4	1	1	0	1	1	0	1	2	1	1	3	4	1	4	3	4	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9965200C>T	ENST00000264833.4	-	6	1212	c.1027G>A	c.(1027-1029)Ggc>Agc	p.G343S	OLFM2_ENST00000590841.1_Missense_Mutation_p.G265S	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	343	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						ACGATGTTGCCCGCGTTCTGG	0.642																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1027-1029)Ggc>Agc		olfactomedin 2							70	65	67					19																	9965200		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9965200C>T	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1027G>A	19.37:g.9965200C>T	ENSP00000264833:p.Gly343Ser					OLFM2_ENST00000590841.1_Missense_Mutation_p.G265S	p.G343S	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			6	1212	-			343			Olfactomedin-like.		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.1027G>A	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916081	0.92178	.	.	ENSG00000105088	ENST00000264833	D	0.89552	-2.53	4.36	4.36	0.52297	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.94019	0.8084	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94134	0.7391	9	.	.	.	.	14.4229	0.67196	0.0:1.0:0.0:0.0	.	343	O95897	NOE2_HUMAN	S	343	ENSP00000264833:G343S	.	G	-	1	0	OLFM2	9826200	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.556000	0.82233	2.239000	0.73571	0.561000	0.74099	GGC		0.642	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			20	34	0	0	0	1	0	20	34					T	9965200	C	T	9965200	3	4	435	1	0	0	0	0	1	0	0	0	10853	623	22	3	341	3	OLFM2	19	9965200	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	92377	9965200	49163783	8002	28927											
OLFM2	93145	broad.mit.edu	37	chr19	9967951	9967951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcatacccagcttctgggCgcaggcgtggagccgggcct	6	6	16	13	3	1	0	0	0	1	0	1	1	1	1	3	5	3	3	3	5	1	2	rs535936235	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9967951C>T	ENST00000264833.4	-	4	753	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	OLFM2_ENST00000590841.1_Missense_Mutation_p.A112T	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	190					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						AGCTTCTGGGCGCAGGCGTGG	0.627													C|||	2	0.000399361	0.0015	0	5008	,	,		18210	0		0	False		,,,				2504	0					ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(568-570)Gcc>Acc		olfactomedin 2							65	61	63					19																	9967951		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9967951C>T	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.568G>A	19.37:g.9967951C>T	ENSP00000264833:p.Ala190Thr					OLFM2_ENST00000590841.1_Missense_Mutation_p.A112T	p.A190T	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			4	753	-			190					Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.568G>A	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881781	0.33255	.	.	ENSG00000105088	ENST00000264833	D	0.87887	-2.31	3.84	3.84	0.44239	.	0.112361	0.56097	D	0.000021	T	0.69424	0.3109	N	0.08118	0	0.32732	N	0.508812	B	0.23058	0.079	B	0.15052	0.012	T	0.67345	-0.5694	9	.	.	.	.	7.1846	0.25793	0.0:0.8798:0.0:0.1202	.	190	O95897	NOE2_HUMAN	T	190	ENSP00000264833:A190T	.	A	-	1	0	OLFM2	9828951	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.992000	0.49417	1.988000	0.58038	0.462000	0.41574	GCC		0.627	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			17	20	0	0	0	1	0	17	20					T	9967951	C	T	9967951	3	4	435	1	0	0	0	0	1	0	0	0	10853	768	27	1	808	1	OLFM2	19	9967951	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2751	9967951	49161032	8003	28928											
COL5A3	50509	broad.mit.edu	37	chr19	10091514	10091515	+	Frame_Shift_Ins	INS	-	-	C																															tgccctgtggcacccggttgINSccccctctctccacgggaac																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10091514_10091515insC	ENST00000264828.3	-	34	2611_2612	c.2526_2527insG	c.(2524-2529)gggcaafs	p.Q843fs		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	843	Collagen-like 3.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			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)			GCACCCGGTTGCCCCCTCTCTC	0.599																																						ENST00000264828.3																			0				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						c.(2524-2529)ggaaccfs		collagen, type V, alpha 3																																				SO:0001589	frameshift_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10091514_10091515insC	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2527dupG	19.37:g.10091519_10091519dupC	ENSP00000264828:p.Gln843fs						p.T843fs	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		34	2611_2612	-			843			Triple-helical region.		Q9NZQ6	Frame_Shift_Ins	INS	ENST00000264828.3	37	c.2526_2527insG	CCDS12222.1																																																																																				0.599	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		9	17						9	17	---	---	---	---	C	10091515	-	C	10091514	7	5	435	1	0	1	1	0	0	0	0	0	3698	1328	46	0	2846	0	COL5A3	19	10091514	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	123563	10091514	49037469	8004	28929											
COL5A3	50509	broad.mit.edu	37	chr19	10097008	10097008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttctccccagctgagcCtgggggcccctcctcgccag	4	8	10	19	1	1	1	0	1	1	0	4	1	2	1	8	2	3	1	8	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10097008C>A	ENST00000264828.3	-	30	2420	c.2335G>T	c.(2335-2337)Ggc>Tgc	p.G779C		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	779	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			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)			CCAGCTGAGCCTGGGGGCCCC	0.622																																						ENST00000264828.3																			0				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						c.(2335-2337)Ggc>Tgc		collagen, type V, alpha 3							28	32	31					19																	10097008		2201	4300	6501	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10097008C>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2335G>T	19.37:g.10097008C>A	ENSP00000264828:p.Gly779Cys						p.G779C	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		30	2420	-			779			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.2335G>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909243	0.72868	.	.	ENSG00000080573	ENST00000264828	D	0.97089	-4.24	4.49	4.49	0.54785	.	0.000000	0.64402	D	0.000001	D	0.99127	0.9699	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98755	1.0722	10	0.87932	D	0	.	15.0349	0.71738	0.0:1.0:0.0:0.0	.	779	P25940	CO5A3_HUMAN	C	779	ENSP00000264828:G779C	ENSP00000264828:G779C	G	-	1	0	COL5A3	9958008	1.000000	0.71417	0.977000	0.42913	0.851000	0.48451	6.879000	0.75572	2.195000	0.70347	0.462000	0.41574	GGC		0.622	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		8	11	1	0	0.0381472	1	0.0383569	8	11					A	10097008	C	A	10097008	3	1	435	1	0	0	0	0	1	0	0	0	3698	681	24	5	3054	5	COL5A3	19	10097008	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5494	10097008	49031975	8005	28930											
C19orf66	55337	broad.mit.edu	37	chr19	10200616	10200616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgacagaagccaacctaCgcatgtttcaacgtgcccag	12	7	8	14	2	1	2	1	1	0	1	1	2	1	2	3	0	5	2	3	0	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10200616C>T	ENST00000253110.11	+	5	575	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	C19orf66_ENST00000397881.3_Missense_Mutation_p.R42C|CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000591813.1_Missense_Mutation_p.R93C	NM_018381.2	NP_060851.2	Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	93										large_intestine(3)|skin(1)	4						AGCCAACCTACGCATGTTTCA	0.647																																						ENST00000397881.3																			0				large_intestine(3)|skin(1)	4						c.(124-126)Cgc>Tgc		chromosome 19 open reading frame 66							48	49	49					19																	10200616		2178	4277	6455	SO:0001583	missense	55337							g.chr19:10200616C>T		CCDS45957.1	19p13.2	2012-10-26			ENSG00000130813	ENSG00000130813			25649	protein-coding gene	gene with protein product						12477932	Standard	NM_018381		Approved	FLJ11286	uc002mmu.4	Q9NUL5		ENST00000253110.11:c.277C>T	19.37:g.10200616C>T	ENSP00000253110:p.Arg93Cys					C19orf66_ENST00000591813.1_Missense_Mutation_p.R93C|CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000253110.11_Missense_Mutation_p.R93C	p.R42C			Q9NUL5	CS066_HUMAN			5	601	+			93					A8MQT9|Q4G188|Q8IYH6|Q8N8V1	Missense_Mutation	SNP	ENST00000253110.11	37	c.124C>T	CCDS45957.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465753	0.63513	.	.	ENSG00000130813	ENST00000253110;ENST00000397881	.	.	.	4.21	4.21	0.49690	.	0.242758	0.25063	N	0.033435	T	0.62925	0.2468	N	0.24115	0.695	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.994;0.994	T	0.67780	-0.5582	9	0.87932	D	0	-24.7659	13.5867	0.61935	0.0:1.0:0.0:0.0	.	42;93;93	Q9NUL5-2;Q9NUL5-4;Q9NUL5	.;.;CS066_HUMAN	C	93;42	.	ENSP00000253110:R93C	R	+	1	0	C19orf66	10061616	0.991000	0.36638	0.967000	0.41034	0.867000	0.49689	3.104000	0.50306	2.183000	0.69458	0.561000	0.74099	CGC		0.647	C19orf66-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451129.1	NM_018381		5	9	0	0	0	1	0	5	9					T	10200616	C	T	10200616	3	4	435	1	0	0	0	0	1	0	0	0	1946	536	19	1	295	1	C19orf66	19	10200616	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	103608	10200616	48928367	8006	28931											
PPAN	56342	broad.mit.edu	37	chr19	10220804	10220804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcctacacacaggggcgCggggctgtcggagagcgagg	8	5	18	10	4	0	1	0	0	0	1	2	3	1	1	1	6	2	1	1	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10220804C>T	ENST00000253107.7	+	8	810	c.704C>T	c.(703-705)gCg>gTg	p.A235V	P2RY11_ENST00000321826.4_5'Flank|PPAN_ENST00000556468.1_Missense_Mutation_p.A235V|SNORD105B_ENST00000458770.1_RNA|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.A235V|SNORD105_ENST00000386910.1_RNA|PPAN_ENST00000393793.1_Missense_Mutation_p.A182V|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.A235V	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	235	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CACAGGGGCGCGGGGCTGTCG	0.687																																						ENST00000428358.1																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(703-705)gCg>gTg									22	28	26					19																	10220804		2201	4298	6499	SO:0001583	missense	0				RNA splicing	nucleolus	protein binding	g.chr19:10220804C>T	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"peter pan (Drosophila) homolog"			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.704C>T	19.37:g.10220804C>T	ENSP00000253107:p.Ala235Val					PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.A235V|PPAN_ENST00000393793.1_Missense_Mutation_p.A182V|PPAN_ENST00000556468.1_Missense_Mutation_p.A235V|PPAN_ENST00000253107.7_Missense_Mutation_p.A235V	p.A235V	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		8	876	+			235			Brix.		C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.704C>T	CCDS12225.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469835	0.26423	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793;ENST00000446223	T;T;T;T;T	0.64618	1.35;-0.11;1.37;-0.11;1.39	5.01	3.97	0.46021	Brix domain (3);	.	.	.	.	T	0.44138	0.1279	L	0.31420	0.93	0.33872	D	0.635097	B;B;B	0.34399	0.452;0.162;0.162	B;B;B	0.26310	0.055;0.04;0.068	T	0.54118	-0.8341	9	0.33141	T	0.24	-14.7643	8.8147	0.34989	0.0:0.8127:0.0:0.1873	.	235;235;235	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	V	235;235;235;235;235;182;173	ENSP00000411918:A235V;ENSP00000377385:A235V;ENSP00000253107:A235V;ENSP00000450710:A235V;ENSP00000377382:A182V	ENSP00000253107:A235V	A	+	2	0	PPAN;PPAN-P2RY11	10081804	0.608000	0.26966	0.411000	0.26484	0.037000	0.13140	1.856000	0.39389	1.081000	0.41110	0.561000	0.74099	GCG		0.687	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		12	20	0	0	0	1	0	12	20					T	10220804	C	T	10220804	3	4	435	1	0	0	0	0	1	0	0	0	12288	768	27	1	734	1	PPAN	19	10220804	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20188	10220804	48908179	8007	28932											
DNMT1	1786	broad.mit.edu	37	chr19	10291513	10291513	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataactgattctttatttCtgtttgcagaaattcgtgca	11	17	6	7	1	2	2	0	1	2	1	3	2	2	2	0	0	3	3	0	0	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10291513C>A	ENST00000340748.4	-	3	401	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	DNMT1_ENST00000540357.1_Nonsense_Mutation_p.E56*|DNMT1_ENST00000359526.4_Nonsense_Mutation_p.E56*			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	56	DMAP-interaction.|Interaction with DMAP1.|Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TTCTTTATTTCTGTTTGCAGA	0.378																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(166-168)Gaa>Taa		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						134	134	134					19																	10291513		2203	4300	6503	SO:0001587	stop_gained	1786				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	g.chr19:10291513C>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.166G>T	19.37:g.10291513C>A	ENSP00000345739:p.Glu56*					DNMT1_ENST00000359526.4_Nonsense_Mutation_p.E56*|DNMT1_ENST00000540357.1_Nonsense_Mutation_p.E56*	p.E56*			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		3	401	-			56			Interaction with DMAP1.|Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Nonsense_Mutation	SNP	ENST00000340748.4	37	c.166G>T	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	c	38	6.956341	0.97964	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748	.	.	.	5.8	5.8	0.92144	.	0.056421	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.8864	0.92379	0.0:1.0:0.0:0.0	.	.	.	.	X	56	.	ENSP00000345739:E56X	E	-	1	0	DNMT1	10152513	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.309000	0.59135	2.761000	0.94854	0.650000	0.86243	GAA		0.378	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		5	30	1	0	0.000602214	1	0.000612743	5	30					A	10291513	C	A	10291513	4	1	435	1	0	0	0	0	0	1	0	0	4675	922	32	5	4888	5	DNMT1	19	10291513	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	70709	10291513	48837470	8008	28933											
S1PR2	9294	broad.mit.edu	37	chr19	10334659	10334659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgcacccccacccccGgcctccagcactgcagcggc	5	5	9	22	2	0	0	0	0	0	0	2	0	2	0	7	2	4	3	7	2	0	1	rs200973983		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10334659G>A	ENST00000590320.1	-	2	1033	c.923C>T	c.(922-924)cCg>cTg	p.P308L	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	308					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCCCACCCCCGGCCTCCAGCA	0.721																																					Pancreas(194;229 3020 15179 45747)	ENST00000590320.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(922-924)cCg>cTg		sphingosine-1-phosphate receptor 2		G	LEU/PRO	1,4325		0,1,2162	14	17	16		923	-10.4	0	19		16	2,8494		0,2,4246	no	missense	S1PR2	NM_004230.3	98	0,3,6408	AA,AG,GG		0.0235,0.0231,0.0234	benign	308/354	10334659	3,12819	2163	4248	6411	SO:0001583	missense	9294				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10334659G>A	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3169	protein-coding gene	gene with protein product		605111	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.923C>T	19.37:g.10334659G>A	ENSP00000466933:p.Pro308Leu						p.P308L	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN			2	1033	-			308					Q86UN8	Missense_Mutation	SNP	ENST00000590320.1	37	c.923C>T	CCDS12229.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.194	0.034635	0.08101	2.31E-4	2.35E-4	ENSG00000175898	ENST00000317726	.	.	.	5.19	-10.4	0.00318	.	1.719220	0.04305	U	0.347955	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.12156	0.007	T	0.11446	-1.0587	9	0.09338	T	0.73	.	8.8288	0.35072	0.0:0.1547:0.2951:0.5502	.	308	O95136	S1PR2_HUMAN	L	308	.	ENSP00000322049:P308L	P	-	2	0	S1PR2	10195659	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.244000	0.02902	-2.007000	0.00956	-1.248000	0.01517	CCG		0.721	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		6	7	0	0	0	1	0	6	7					A	10334659	G	A	10334659	3	1	435	1	0	0	0	0	1	0	0	0	13794	1116	39	2	142	2	S1PR2	19	10334659	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43146	10334659	48794324	8009	28934											
S1PR2	9294	broad.mit.edu	37	chr19	10334881	10334881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctagcacgatggtgaccGtcttgagcagggctagcgtc	7	8	14	12	4	1	2	0	2	1	0	2	3	1	2	2	2	3	3	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10334881G>A	ENST00000590320.1	-	2	811	c.701C>T	c.(700-702)aCg>aTg	p.T234M	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	234					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GATGGTGACCGTCTTGAGCAG	0.627																																					Pancreas(194;229 3020 15179 45747)	ENST00000590320.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(700-702)aCg>aTg		sphingosine-1-phosphate receptor 2							79	65	69					19																	10334881		2203	4300	6503	SO:0001583	missense	9294				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10334881G>A	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3169	protein-coding gene	gene with protein product		605111	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.701C>T	19.37:g.10334881G>A	ENSP00000466933:p.Thr234Met						p.T234M	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN			2	811	-			234					Q86UN8	Missense_Mutation	SNP	ENST00000590320.1	37	c.701C>T	CCDS12229.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451857	0.84209	.	.	ENSG00000175898	ENST00000317726	.	.	.	5.81	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.125364	0.51477	D	0.000091	T	0.75781	0.3896	M	0.62154	1.92	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.77715	-0.2484	9	0.87932	D	0	.	14.6264	0.68624	0.0:0.0:0.8536:0.1464	.	234	O95136	S1PR2_HUMAN	M	234	.	ENSP00000322049:T234M	T	-	2	0	S1PR2	10195881	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.926000	0.87569	2.757000	0.94681	0.651000	0.88453	ACG		0.627	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		3	14	0	0	0	1	0	3	14					A	10334881	G	A	10334881	3	1	435	1	0	0	0	0	1	0	0	0	13794	1145	40	1	364	1	S1PR2	19	10334881	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	222	10334881	48794102	8010	28935											
MRPL4	51073	broad.mit.edu	37	chr19	10369391	10369391	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcccaggcccctagagtgCgcatgtgcaggctccgctgt	6	7	14	14	2	0	1	0	0	0	1	1	2	1	1	4	2	3	4	4	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10369391C>T	ENST00000253099.6	+	8	1026				MRPL4_ENST00000590669.1_Missense_Mutation_p.R257C|MRPL4_ENST00000307422.5_Intron|CTD-2369P2.4_ENST00000587088.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000393733.2_Intron	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4						translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		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)		CCCTAGAGTGCGCATGTGCAG	0.592																																						ENST00000590669.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(769-771)Cgc>Tgc		mitochondrial ribosomal protein L4							91	93	92					19																	10369391		2203	4300	6503	SO:0001627	intron_variant	51073				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr19:10369391C>T	AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"Mitochondrial ribosomal proteins / large subunits"	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.739+30C>T	19.37:g.10369391C>T						MRPL4_ENST00000253099.6_Intron|MRPL4_ENST00000393733.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000307422.5_Intron	p.R257C			Q9BYD3	RM04_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)	8	1013	+		Renal(1328;0.0112)	0					A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Missense_Mutation	SNP	ENST00000253099.6	37	c.769C>T	CCDS12230.1	.	.	.	.	.	.	.	.	.	.	c	8.002	0.755599	0.15846	.	.	ENSG00000105364	ENST00000393733	.	.	.	3.21	-4.05	0.03998	.	.	.	.	.	T	0.14874	0.0359	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24154	-1.0168	6	.	.	.	.	0.478	0.00543	0.2489:0.3213:0.1628:0.267	.	257	Q9BYD3-2	.	C	257	.	.	R	+	1	0	MRPL4	10230391	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-3.512000	0.00446	-0.948000	0.03668	-0.605000	0.04089	CGC		0.592	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451197.1			12	39	0	0	0	1	0	12	39					T	10369391	C	T	10369391	1	4	435	0	1	0	0	0	0	0	0	0	9803	768	27	1		1	MRPL4	19	10369391	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	34510	10369391	48759592	8011	28936											
RAVER1	125950	broad.mit.edu	37	chr19	10439365	10439365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacagcgcccggcacagagCgtccacatcgttgaagccag	10	5	12	14	4	0	3	0	2	0	1	2	3	1	3	3	1	3	2	3	1	1	1	rs372282298		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10439365C>T	ENST00000293677.6	-	3	841	c.760G>A	c.(760-762)Gct>Act	p.A254T		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	237	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CGGCACAGAGCGTCCACATCG	0.667																																						ENST00000293677.6																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(760-762)Gct>Act		ribonucleoprotein, PTB-binding 1		C	THR/ALA	0,4256		0,0,2128	11	13	12		760	4.1	1	19		12	1,8477		0,1,4238	no	missense	RAVER1	NM_133452.2	58	0,1,6366	TT,TC,CC		0.0118,0.0,0.0079	possibly-damaging	254/757	10439365	1,12733	2128	4239	6367	SO:0001583	missense	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10439365C>T		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.760G>A	19.37:g.10439365C>T	ENSP00000293677:p.Ala254Thr						p.A254T	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		3	841	-			237			RRM 3.		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	c.760G>A	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	C	8.527	0.870009	0.17322	0.0	1.18E-4	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.08008	3.14	5.08	4.05	0.47172	.	0.111526	0.56097	D	0.000021	T	0.08133	0.0203	L	0.38175	1.15	0.39711	D	0.971323	B	0.06786	0.001	B	0.04013	0.001	T	0.11665	-1.0578	10	0.52906	T	0.07	-22.0349	11.5735	0.50848	0.0:0.9129:0.0:0.0871	.	254	E9PAU2	.	T	254;237	ENSP00000293677:A254T	ENSP00000293677:A254T	A	-	1	0	RAVER1	10300365	0.502000	0.26107	0.969000	0.41365	0.003000	0.03518	1.193000	0.32162	1.155000	0.42497	-0.119000	0.15052	GCT		0.667	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		4	0	0	0	0	1	0	4	0					T	10439365	C	T	10439365	3	4	435	1	0	0	0	0	1	0	0	0	13094	768	27	1	1554	1	RAVER1	19	10439365	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	69974	10439365	48689618	8012	28937											
TYK2	7297	broad.mit.edu	37	chr19	10468707	10468707	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagggcgcccaggcccacGccaggatcactcagcttgat	9	5	13	14	2	2	2	2	1	0	1	2	4	2	3	3	3	1	1	3	3	0	1	rs558083906	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10468707G>A	ENST00000525621.1	-	16	2764	c.2283C>T	c.(2281-2283)ggC>ggT	p.G761G	TYK2_ENST00000524462.1_Silent_p.G576G|TYK2_ENST00000529370.1_Silent_p.G761G|TYK2_ENST00000264818.6_Silent_p.G761G	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	761	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCAGGCCCACGCCAGGATCAC	0.642													g|||	2	0.000399361	0	0	5008	,	,		15731	0		0	False		,,,				2504	0.002					ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2281-2283)ggC>ggT		tyrosine kinase 2							30	27	28					19																	10468707		2203	4300	6503	SO:0001819	synonymous_variant	7297				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	g.chr19:10468707G>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2283C>T	19.37:g.10468707G>A						TYK2_ENST00000264818.6_Silent_p.G761G|TYK2_ENST00000529370.1_Silent_p.G761G|TYK2_ENST00000524462.1_Silent_p.G576G	p.G761G	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		16	2764	-			761			Protein kinase 1.		Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.2283C>T	CCDS12236.1																																																																																				0.642	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			7	13	0	0	0	1	0	7	13					A	10468707	G	A	10468707	2	1	435	1	0	0	0	0	0	0	0	1	16807	1074	38	1		1	TYK2	19	10468707	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29342	10468707	48660276	8013	28938											
TYK2	7297	broad.mit.edu	37	chr19	10478977	10478977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtctccacccaccttatgCggaaatatagcatcaggctt	11	10	8	12	1	2	0	1	0	1	0	3	1	2	1	3	3	2	2	3	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10478977C>T	ENST00000525621.1	-	4	792	c.311G>A	c.(310-312)cGc>cAc	p.R104H	TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Missense_Mutation_p.R104H|TYK2_ENST00000264818.6_Missense_Mutation_p.R104H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	104	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R104L(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCACCTTATGCGGAAATATAG	0.552																																						ENST00000525621.1																			1	Substitution - Missense(1)	p.R104L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(310-312)cGc>cAc		tyrosine kinase 2							158	141	147					19																	10478977		2203	4300	6503	SO:0001583	missense	7297				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	g.chr19:10478977C>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.311G>A	19.37:g.10478977C>T	ENSP00000431885:p.Arg104His					TYK2_ENST00000264818.6_Missense_Mutation_p.R104H|TYK2_ENST00000529370.1_Missense_Mutation_p.R104H|TYK2_ENST00000524462.1_Intron	p.R104H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		4	792	-			104			FERM.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.311G>A	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735436	0.89482	.	.	ENSG00000105397	ENST00000525621;ENST00000264818;ENST00000529370;ENST00000531836	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.01	5.01	0.66863	Band 4.1 domain (1);FERM domain (1);	0.000000	0.49916	D	0.000133	D	0.88217	0.6377	M	0.83774	2.66	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.89834	0.3998	10	0.87932	D	0	-41.1729	13.8262	0.63352	0.0:1.0:0.0:0.0	.	104;104	E9PPF2;P29597	.;TYK2_HUMAN	H	104	ENSP00000431885:R104H;ENSP00000264818:R104H;ENSP00000432728:R104H;ENSP00000436175:R104H	ENSP00000264818:R104H	R	-	2	0	TYK2	10339977	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.387000	0.73191	2.325000	0.78763	0.544000	0.68410	CGC		0.552	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			39	44	0	0	0	1	0	39	44					T	10478977	C	T	10478977	3	4	435	1	0	0	0	0	1	0	0	0	16807	768	27	1	3340	1	TYK2	19	10478977	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10270	10478977	48650006	8014	28939											
CDC37	11140	broad.mit.edu	37	chr19	10505948	10505948	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatgaccaggtaattggCtgtctcctcgcacaccaggt	10	9	9	13	1	1	1	0	1	1	0	3	1	1	1	4	3	0	3	4	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10505948C>A	ENST00000222005.2	-	4	612	c.559G>T	c.(559-561)Gcc>Tcc	p.A187S		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	187					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		AGGTAATTGGCTGTCTCCTCG	0.577																																						ENST00000222005.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(559-561)Gcc>Tcc		cell division cycle 37							234	202	213					19																	10505948		2203	4300	6503	SO:0001583	missense	11140				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	g.chr19:10505948C>A	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"CDC37 cell division cycle 37 homolog", "Hsp90 co-chaperone Cdc37", "CDC37 (cell division cycle 37, S. cerevisiae, homolog)"	605065	"CDC37 (cell division cycle 37, S. cerevisiae, homolog)", "CDC37 cell division cycle 37 homolog (S. cerevisiae)", "cell division cycle 37 homolog (S. cerevisiae)"			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.559G>T	19.37:g.10505948C>A	ENSP00000222005:p.Ala187Ser						p.A187S	NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	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)	4	612	-			187					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.559G>T	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534706	0.85812	.	.	ENSG00000105401	ENST00000222005	T	0.46063	0.88	4.01	4.01	0.46588	Cdc37, Hsp90 binding (1);	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	M	0.87827	2.91	0.80722	D	1	P;P	0.51449	0.945;0.945	P;P	0.59889	0.865;0.865	T	0.72962	-0.4132	10	0.72032	D	0.01	.	13.992	0.64372	0.0:1.0:0.0:0.0	.	187;187	Q6FG59;Q16543	.;CDC37_HUMAN	S	187	ENSP00000222005:A187S	ENSP00000222005:A187S	A	-	1	0	CDC37	10366948	1.000000	0.71417	0.919000	0.36401	0.896000	0.52359	7.035000	0.76517	1.948000	0.56530	0.462000	0.41574	GCC		0.577	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		9	155	1	0	3.86212e-05	1	3.97146e-05	9	155					A	10505948	C	A	10505948	3	1	435	1	0	0	0	0	1	0	0	0	3068	797	28	5	597	5	CDC37	19	10505948	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26971	10505948	48623035	8015	28940											
CDC37	11140	broad.mit.edu	37	chr19	10506866	10506866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttctggaactgctccatgCgttccacccgggcctgcggg	4	9	12	16	3	1	0	0	0	1	0	3	1	3	1	5	3	4	2	5	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10506866C>T	ENST00000222005.2	-	2	169	c.116G>A	c.(115-117)cGc>cAc	p.R39H		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	39					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTGCTCCATGCGTTCCACCCG	0.647																																						ENST00000222005.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(115-117)cGc>cAc		cell division cycle 37							45	48	47					19																	10506866		2203	4300	6503	SO:0001583	missense	11140				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	g.chr19:10506866C>T	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"CDC37 cell division cycle 37 homolog", "Hsp90 co-chaperone Cdc37", "CDC37 (cell division cycle 37, S. cerevisiae, homolog)"	605065	"CDC37 (cell division cycle 37, S. cerevisiae, homolog)", "CDC37 cell division cycle 37 homolog (S. cerevisiae)", "cell division cycle 37 homolog (S. cerevisiae)"			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.116G>A	19.37:g.10506866C>T	ENSP00000222005:p.Arg39His						p.R39H	NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	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)	2	169	-			39					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.116G>A	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714165	0.89112	.	.	ENSG00000105401	ENST00000222005	T	0.63255	-0.03	4.19	4.19	0.49359	Cdc37, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	M	0.79123	2.44	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61328	0.887;0.887	T	0.80870	-0.1189	10	0.87932	D	0	.	14.3942	0.67001	0.0:1.0:0.0:0.0	.	39;39	Q6FG59;Q16543	.;CDC37_HUMAN	H	39	ENSP00000222005:R39H	ENSP00000222005:R39H	R	-	2	0	CDC37	10367866	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.268000	0.78473	2.058000	0.61347	0.555000	0.69702	CGC		0.647	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		23	42	0	0	0	1	0	23	42					T	10506866	C	T	10506866	3	4	435	1	0	0	0	0	1	0	0	0	3068	768	27	1	1048	1	CDC37	19	10506866	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	918	10506866	48622117	8016	28941											
PDE4A	5141	broad.mit.edu	37	chr19	10578164	10578164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggcctcccctccacggCggccgaggtggaggcccaac	5	3	14	19	4	0	0	0	0	0	0	2	2	2	1	7	6	1	0	7	6	1	0	rs201404545		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10578164C>T	ENST00000352831.6	+	15	2638	c.2528C>T	c.(2527-2529)gCg>gTg	p.A843V	PDE4A_ENST00000380702.2_Missense_Mutation_p.A821V|PDE4A_ENST00000293683.5_Missense_Mutation_p.A817V|PDE4A_ENST00000440014.2_Missense_Mutation_p.A782V|PDE4A_ENST00000344979.3_Missense_Mutation_p.A604V|PDE4A_ENST00000592685.1_Missense_Mutation_p.A821V	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	843					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CCCTCCACGGCGGCCGAGGTG	0.672																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(2461-2463)gCg>gTg		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						39	45	43					19																	10578164		2180	4252	6432	SO:0001583	missense	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10578164C>T		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.2528C>T	19.37:g.10578164C>T	ENSP00000270474:p.Ala843Val					PDE4A_ENST00000592685.1_Missense_Mutation_p.A821V|PDE4A_ENST00000352831.6_Missense_Mutation_p.A843V|PDE4A_ENST00000293683.5_Missense_Mutation_p.A817V|PDE4A_ENST00000440014.2_Missense_Mutation_p.A782V|PDE4A_ENST00000344979.3_Missense_Mutation_p.A604V	p.A821V			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		16	2462	+			843					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	c.2462C>T	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.176851	0.78564	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	T;T;T;T;T	0.75154	-0.86;-0.87;-0.91;-0.87;-0.66	3.86	2.82	0.32997	.	2.042280	0.02294	N	0.070575	T	0.78916	0.4359	L	0.27053	0.805	0.27686	N	0.946262	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.994;0.994;0.986	T	0.67317	-0.5701	10	0.87932	D	0	.	6.6458	0.22934	0.0:0.8701:0.0:0.1299	.	604;782;817;843	P27815-4;P27815-6;P27815-2;P27815	.;.;.;PDE4A_HUMAN	V	821;843;817;782;604	ENSP00000370078:A821V;ENSP00000270474:A843V;ENSP00000293683:A817V;ENSP00000394754:A782V;ENSP00000341007:A604V	ENSP00000293683:A817V	A	+	2	0	PDE4A	10439164	0.943000	0.32029	0.998000	0.56505	0.979000	0.70002	0.701000	0.25616	2.146000	0.66826	0.479000	0.44913	GCG		0.672	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			47	40	0	0	0	1	0	47	40					T	10578164	C	T	10578164	3	4	435	1	0	0	0	0	1	0	0	0	11639	768	27	1	3043	1	PDE4A	19	10578164	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	71298	10578164	48550819	8017	28942											
KEAP1	9817	broad.mit.edu	37	chr19	10610427	10610427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccagcaccaccttgtgggCcatgaactgggcggccggtg	6	6	16	13	2	0	1	0	1	0	0	0	1	0	1	5	5	2	1	5	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10610427C>T	ENST00000171111.5	-	2	830	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	KEAP1_ENST00000393623.2_Missense_Mutation_p.A95T|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	95	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	ACCTTGTGGGCCATGAACTGG	0.612																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(283-285)Gcc>Acc		kelch-like ECH-associated protein 1							83	65	71					19																	10610427		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610427C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.283G>A	19.37:g.10610427C>T	ENSP00000171111:p.Ala95Thr					KEAP1_ENST00000393623.2_Missense_Mutation_p.A95T	p.A95T	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	830	-			95			BTB.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.283G>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027068	0.75390	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.77098	-1.07;-1.07	4.68	4.68	0.58851	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.053923	0.64402	D	0.000001	T	0.76905	0.4053	L	0.46819	1.47	0.58432	D	0.999999	P	0.47034	0.889	P	0.46758	0.526	T	0.80346	-0.1421	10	0.66056	D	0.02	.	15.0979	0.72250	0.0:1.0:0.0:0.0	.	95	Q14145	KEAP1_HUMAN	T	95	ENSP00000171111:A95T;ENSP00000377245:A95T	ENSP00000171111:A95T	A	-	1	0	KEAP1	10471427	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.015000	0.76387	2.162000	0.67917	0.462000	0.41574	GCC		0.612	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		6	10	0	0	0	1	0	6	10					T	10610427	C	T	10610427	3	4	435	1	0	0	0	0	1	0	0	0	8141	739	26	3	1611	3	KEAP1	19	10610427	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32263	10610427	48518556	8018	28943											
KRI1	65095	broad.mit.edu	37	chr19	10668529	10668529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccgtcaagggggcctcgcGctttttcttcctcggctggc	2	11	13	15	4	2	0	1	0	1	0	5	0	3	0	3	4	0	2	3	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10668529G>A	ENST00000312962.6	-	15	1439	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	KRI1_ENST00000361821.5_Missense_Mutation_p.R470C	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	468						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGGGCCTCGCGCTTTTTCTTC	0.687																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1420-1422)Cgc>Tgc		KRI1 homolog (S. cerevisiae)							31	33	32					19																	10668529		2203	4299	6502	SO:0001583	missense	65095							g.chr19:10668529G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1420C>T	19.37:g.10668529G>A	ENSP00000320917:p.Arg474Cys					KRI1_ENST00000361821.5_Missense_Mutation_p.R470C	p.R474C	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		15	1439	-			474					Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.1420C>T	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	6.724	0.502368	0.12822	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101	T;T	0.09538	3.14;2.97	5.36	1.73	0.24493	.	0.710364	0.13943	N	0.352040	T	0.11067	0.0270	L	0.56769	1.78	0.09310	N	0.999995	B;B	0.15473	0.003;0.013	B;B	0.06405	0.001;0.002	T	0.16276	-1.0408	10	0.51188	T	0.08	-2.3893	7.0607	0.25123	0.1771:0.0:0.6767:0.1462	.	474;470	Q8N9T8;D3YTE0	KRI1_HUMAN;.	C	474;470;474	ENSP00000320917:R474C;ENSP00000355366:R470C	ENSP00000320917:R474C	R	-	1	0	KRI1	10529529	0.001000	0.12720	0.018000	0.16275	0.006000	0.05464	0.871000	0.28023	1.269000	0.44280	0.563000	0.77884	CGC		0.687	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		12	14	0	0	0	1	0	12	14					A	10668529	G	A	10668529	3	1	435	1	0	0	0	0	1	0	0	0	8444	1087	38	1	729	1	KRI1	19	10668529	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	58102	10668529	48460454	8019	28944											
KRI1	65095	broad.mit.edu	37	chr19	10670333	10670333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccctcttctcctttctgcGctcatccttacggcgcacgg	3	14	7	17	4	4	0	1	0	3	0	7	0	6	0	3	2	2	2	3	2	1	4	rs374175757		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10670333G>A	ENST00000312962.6	-	11	1016	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	KRI1_ENST00000537964.1_5'Flank|KRI1_ENST00000361821.5_Missense_Mutation_p.R329C	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	327	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCCTTTCTGCGCTCATCCTTA	0.617																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(997-999)Cgc>Tgc		KRI1 homolog (S. cerevisiae)		G	CYS/ARG	0,4406		0,0,2203	94	93	93		997	5.1	1	19		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRI1	NM_023008.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	333/710	10670333	1,13005	2203	4300	6503	SO:0001583	missense	65095							g.chr19:10670333G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.997C>T	19.37:g.10670333G>A	ENSP00000320917:p.Arg333Cys					KRI1_ENST00000361821.5_Missense_Mutation_p.R329C	p.R333C	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		11	1016	-			333			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.997C>T	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877687	0.72294	0.0	1.16E-4	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101	T;T	0.09445	3.15;2.98	5.11	5.11	0.69529	.	0.238369	0.41294	D	0.000914	T	0.34978	0.0916	M	0.79475	2.455	0.45621	D	0.998554	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.95	T	0.11421	-1.0588	10	0.62326	D	0.03	-23.54	17.2887	0.87149	0.0:0.0:1.0:0.0	.	333;329	Q8N9T8;D3YTE0	KRI1_HUMAN;.	C	333;329;333	ENSP00000320917:R333C;ENSP00000355366:R329C	ENSP00000320917:R333C	R	-	1	0	KRI1	10531333	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.106000	0.41835	2.370000	0.80446	0.591000	0.81541	CGC		0.617	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		16	24	0	0	0	1	0	16	24					A	10670333	G	A	10670333	3	1	435	1	0	0	0	0	1	0	0	0	8444	1087	38	1	1168	1	KRI1	19	10670333	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1804	10670333	48458650	8020	28945											
SLC44A2	57153	broad.mit.edu	37	chr19	10742304	10742304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcctctgctccatgcagtgGcccggagatgcttccccgct	5	10	10	16	2	1	1	0	0	1	1	4	2	4	1	5	2	3	4	5	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10742304G>A	ENST00000335757.5	+	8	881	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	SLC44A2_ENST00000407327.4_Missense_Mutation_p.A167T|SLC44A2_ENST00000586078.1_Missense_Mutation_p.A169T			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	169					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCATGCAGTGGCCCGGAGATG	0.607																																						ENST00000586078.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(505-507)Gcc>Acc		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						59	53	55					19																	10742304		2203	4300	6503	SO:0001583	missense	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10742304G>A	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.505G>A	19.37:g.10742304G>A	ENSP00000336888:p.Ala169Thr					SLC44A2_ENST00000335757.5_Missense_Mutation_p.A169T|SLC44A2_ENST00000407327.4_Missense_Mutation_p.A167T	p.A169T	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		8	614	+			169					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	c.505G>A	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707325	0.48412	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.09911	2.93;2.93	4.73	4.73	0.59995	.	0.235047	0.43579	D	0.000559	T	0.05640	0.0148	N	0.05230	-0.09	0.32815	D	0.501976	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.06144	-1.0843	10	0.46703	T	0.11	.	10.3087	0.43695	0.0918:0.0:0.9082:0.0	.	169;167	Q8IWA5;Q8IWA5-3	CTL2_HUMAN;.	T	167;169;169	ENSP00000385135:A167T;ENSP00000336888:A169T	ENSP00000336888:A169T	A	+	1	0	SLC44A2	10603304	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.253000	0.51469	2.480000	0.83734	0.456000	0.33151	GCC		0.607	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			10	15	0	0	0	1	0	10	15					A	10742304	G	A	10742304	3	1	435	1	0	0	0	0	1	0	0	0	14636	1203	42	3	570	3	SLC44A2	19	10742304	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	71971	10742304	48386679	8021	28946											
ILF3	3609	broad.mit.edu	37	chr19	10789860	10789860	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacctggggtcccctcCgaggctgggtaaggcatgtt	5	9	14	13	1	0	0	0	0	0	0	2	1	2	0	5	5	1	4	5	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10789860C>T	ENST00000590261.1	+	6	739	c.739C>T	c.(739-741)Cga>Tga	p.R247*	ILF3_ENST00000589998.1_Nonsense_Mutation_p.R247*|ILF3_ENST00000449870.1_Nonsense_Mutation_p.R247*|ILF3_ENST00000407004.3_Nonsense_Mutation_p.R247*|ILF3_ENST00000250241.8_Nonsense_Mutation_p.R247*|ILF3_ENST00000588657.1_Nonsense_Mutation_p.R247*|ILF3_ENST00000318511.3_Nonsense_Mutation_p.R247*|ILF3_ENST00000420083.1_Nonsense_Mutation_p.R247*|ILF3_ENST00000592763.1_Nonsense_Mutation_p.R247*			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	247	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			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)			GGGTCCCCTCCGAGGCTGGGT	0.597																																						ENST00000449870.1																			0				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						c.(739-741)Cga>Tga		interleukin enhancer binding factor 3, 90kDa							68	56	60					19																	10789860		2203	4300	6503	SO:0001587	stop_gained	3609				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	g.chr19:10789860C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.739C>T	19.37:g.10789860C>T	ENSP00000468156:p.Arg247*					ILF3_ENST00000407004.3_Nonsense_Mutation_p.R247*|ILF3_ENST00000589998.1_Nonsense_Mutation_p.R247*|ILF3_ENST00000588657.1_Nonsense_Mutation_p.R247*|ILF3_ENST00000318511.3_Nonsense_Mutation_p.R247*|ILF3_ENST00000590261.1_Nonsense_Mutation_p.R247*|ILF3_ENST00000250241.8_Nonsense_Mutation_p.R247*|ILF3_ENST00000420083.1_Nonsense_Mutation_p.R247*|ILF3_ENST00000592763.1_Nonsense_Mutation_p.R247*	p.R247*	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		7	1056	+			247			DZF.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Nonsense_Mutation	SNP	ENST00000590261.1	37	c.739C>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	39	7.333929	0.98217	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	.	.	.	5.42	2.05	0.26809	.	0.053184	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3715	0.32419	0.3866:0.4936:0.0:0.1197	.	.	.	.	X	247	.	ENSP00000250241:R247X	R	+	1	2	ILF3	10650860	0.314000	0.24563	0.998000	0.56505	0.993000	0.82548	1.020000	0.30027	0.150000	0.19136	-0.145000	0.13849	CGA		0.597	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			19	20	0	0	0	1	0	19	20					T	10789860	C	T	10789860	4	4	435	1	0	0	0	0	0	1	0	0	7712	644	23	2	761	2	ILF3	19	10789860	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	47556	10789860	48339123	8022	28947											
ILF3	3609	broad.mit.edu	37	chr19	10791067	10791067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaaagaagccactgatgCtattgggcatctagacagac	15	8	10	8	0	1	5	0	2	1	3	1	5	1	5	1	1	2	2	1	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10791067C>T	ENST00000590261.1	+	8	905	c.905C>T	c.(904-906)gCt>gTt	p.A302V	ILF3_ENST00000589998.1_Missense_Mutation_p.A302V|ILF3_ENST00000449870.1_Missense_Mutation_p.A302V|ILF3_ENST00000407004.3_Missense_Mutation_p.A302V|ILF3_ENST00000250241.8_Missense_Mutation_p.A302V|ILF3_ENST00000588657.1_Missense_Mutation_p.A302V|ILF3_ENST00000318511.3_Missense_Mutation_p.A302V|ILF3_ENST00000420083.1_Missense_Mutation_p.A302V|ILF3_ENST00000592763.1_Missense_Mutation_p.A302V			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	302	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			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)			GCCACTGATGCTATTGGGCAT	0.468																																						ENST00000449870.1																			0				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						c.(904-906)gCt>gTt		interleukin enhancer binding factor 3, 90kDa							147	135	139					19																	10791067		2203	4300	6503	SO:0001583	missense	3609				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	g.chr19:10791067C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.905C>T	19.37:g.10791067C>T	ENSP00000468156:p.Ala302Val					ILF3_ENST00000407004.3_Missense_Mutation_p.A302V|ILF3_ENST00000589998.1_Missense_Mutation_p.A302V|ILF3_ENST00000588657.1_Missense_Mutation_p.A302V|ILF3_ENST00000318511.3_Missense_Mutation_p.A302V|ILF3_ENST00000590261.1_Missense_Mutation_p.A302V|ILF3_ENST00000250241.8_Missense_Mutation_p.A302V|ILF3_ENST00000420083.1_Missense_Mutation_p.A302V|ILF3_ENST00000592763.1_Missense_Mutation_p.A302V	p.A302V	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		9	1222	+			302			DZF.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.905C>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692822	0.68271	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.63	5.63	0.86233	DZF (2);	0.000000	0.85682	D	0.000000	T	0.54287	0.1849	L	0.42632	1.34	0.58432	D	0.999998	D;D;D;P;D;D	0.89917	0.996;1.0;0.999;0.911;1.0;0.998	D;D;D;P;D;D	0.85130	0.99;0.997;0.996;0.55;0.997;0.994	T	0.49390	-0.8945	10	0.46703	T	0.11	.	18.4811	0.90812	0.0:1.0:0.0:0.0	.	302;302;302;302;302;302	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	V	302	ENSP00000404121:A302V;ENSP00000315205:A302V;ENSP00000405436:A302V;ENSP00000384660:A302V;ENSP00000250241:A302V	ENSP00000250241:A302V	A	+	2	0	ILF3	10652067	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.883000	0.63128	2.652000	0.90054	0.655000	0.94253	GCT		0.468	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			11	51	0	0	0	1	0	11	51					T	10791067	C	T	10791067	3	4	435	1	0	0	0	0	1	0	0	0	7712	797	28	3	935	3	ILF3	19	10791067	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1207	10791067	48337916	8023	28948											
QTRT1	81890	broad.mit.edu	37	chr19	10823503	10823503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtttgagaaggacttcGgccccatagacccggagtgc	9	8	14	10	2	0	2	0	1	0	2	1	5	0	4	3	4	1	1	3	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10823503G>A	ENST00000250237.5	+	8	941	c.931G>A	c.(931-933)Ggc>Agc	p.G311S		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	311					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GAAGGACTTCGGCCCCATAGA	0.647																																						ENST00000250237.5																			0				large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(931-933)Ggc>Agc		queuine tRNA-ribosyltransferase 1							106	94	98					19																	10823503		2203	4300	6503	SO:0001583	missense	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10823503G>A	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"tRNA-guanine transglycosylase"	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.931G>A	19.37:g.10823503G>A	ENSP00000250237:p.Gly311Ser						p.G311S	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		8	941	+			311					B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	c.931G>A	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	G	3.175	-0.169166	0.06461	.	.	ENSG00000213339	ENST00000250237	.	.	.	4.0	-3.1	0.05315	.	0.360477	0.26069	N	0.026522	T	0.10165	0.0249	N	0.02751	-0.505	0.09310	N	0.99999	B	0.02656	0.0	B	0.06405	0.002	T	0.32798	-0.9893	9	0.09843	T	0.71	-14.8547	6.0443	0.19752	0.3455:0.4238:0.2307:0.0	.	311	Q9BXR0	TGT_HUMAN	S	311	.	ENSP00000250237:G311S	G	+	1	0	QTRT1	10684503	0.003000	0.15002	0.353000	0.25747	0.016000	0.09150	0.185000	0.16958	-0.212000	0.10109	-1.069000	0.02264	GGC		0.647	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		47	60	0	0	0	1	0	47	60					A	10823503	G	A	10823503	3	1	435	1	0	0	0	0	1	0	0	0	12885	1116	39	2	961	2	QTRT1	19	10823503	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32436	10823503	48305480	8024	28949											
DNM2	1785	broad.mit.edu	37	chr19	10916630	10916630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagctgaacaagaagagagCcatccccaatcaggtagcac	15	4	10	12	0	1	3	1	1	0	2	2	4	2	3	3	1	4	4	3	1	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10916630C>T	ENST00000355667.6	+	13	1612	c.1532C>T	c.(1531-1533)gCc>gTc	p.A511V	DNM2_ENST00000389253.4_Missense_Mutation_p.A511V|DNM2_ENST00000314646.5_Missense_Mutation_p.A511V|DNM2_ENST00000408974.4_Missense_Mutation_p.A511V|DNM2_ENST00000359692.6_Missense_Mutation_p.A511V|DNM2_ENST00000585892.1_Missense_Mutation_p.A511V	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	511					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			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)			AAGAAGAGAGCCATCCCCAAT	0.607			"F, N, Splice, Mis, O"		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"F, N, Splice, Mis, O"	dynamin 2			L			ETP ALL		0				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						c.(1531-1533)gCc>gTc		dynamin 2							190	148	162					19																	10916630		2203	4300	6503	SO:0001583	missense	1785				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	g.chr19:10916630C>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1532C>T	19.37:g.10916630C>T	ENSP00000347890:p.Ala511Val					DNM2_ENST00000359692.6_Missense_Mutation_p.A511V|DNM2_ENST00000355667.6_Missense_Mutation_p.A511V|DNM2_ENST00000585892.1_Missense_Mutation_p.A511V|DNM2_ENST00000408974.4_Missense_Mutation_p.A511V|DNM2_ENST00000389253.4_Missense_Mutation_p.A511V	p.A511V			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		13	1696	+			511					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1532C>T	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579093	0.28180	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	D;D;D;D;D	0.93019	-3.11;-3.15;-3.11;-3.15;-3.14	5.64	5.64	0.86602	.	0.199533	0.42294	D	0.000736	D	0.87136	0.6102	N	0.12182	0.205	0.47862	D	0.999539	B;B;B;B;B;B	0.23316	0.083;0.009;0.001;0.0;0.001;0.002	B;B;B;B;B;B	0.18561	0.022;0.004;0.001;0.007;0.002;0.003	T	0.82380	-0.0486	10	0.30854	T	0.27	-18.3215	18.4689	0.90766	0.0:1.0:0.0:0.0	.	105;244;511;511;511;511	Q8N1K8;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;DYN2_HUMAN;.	V	511	ENSP00000386192:A511V;ENSP00000347890:A511V;ENSP00000352721:A511V;ENSP00000373905:A511V;ENSP00000313164:A511V	ENSP00000313164:A511V	A	+	2	0	DNM2	10777630	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	4.231000	0.58639	2.657000	0.90304	0.650000	0.86243	GCC		0.607	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		13	15	0	0	0	1	0	13	15					T	10916630	C	T	10916630	3	4	435	1	0	0	0	0	1	0	0	0	4672	739	26	3	1725	3	DNM2	19	10916630	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	93127	10916630	48212353	8025	28950											
CARM1	10498	broad.mit.edu	37	chr19	11024683	11024683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacatgctcttcaacgagcGcatgctggagagctacctcc	9	9	9	14	2	2	1	1	0	1	1	3	3	3	1	2	1	7	4	2	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11024683G>A	ENST00000327064.4	+	6	990	c.800G>A	c.(799-801)cGc>cAc	p.R267H	CARM1_ENST00000344150.4_Missense_Mutation_p.R267H	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	267	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TTCAACGAGCGCATGCTGGAG	0.642																																						ENST00000327064.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(799-801)cGc>cAc		coactivator-associated arginine methyltransferase 1							93	71	78					19																	11024683		2203	4300	6503	SO:0001583	missense	10498				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	g.chr19:11024683G>A	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"Protein arginine methyltransferases"	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.800G>A	19.37:g.11024683G>A	ENSP00000325690:p.Arg267His					CARM1_ENST00000344150.4_Missense_Mutation_p.R267H	p.R267H	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			6	990	+			267					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.800G>A	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	g	33	5.197937	0.94997	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.23552	1.9;1.9	4.93	4.93	0.64822	.	0.120425	0.51477	D	0.000082	T	0.43831	0.1265	L	0.43598	1.365	0.54753	D	0.999985	D;P	0.67145	0.996;0.923	D;P	0.68483	0.958;0.652	T	0.38200	-0.9672	10	0.87932	D	0	-3.8908	17.3276	0.87253	0.0:0.0:1.0:0.0	.	267;267	Q86X55-1;Q86X55	.;CARM1_HUMAN	H	267	ENSP00000325690:R267H;ENSP00000340934:R267H	ENSP00000325690:R267H	R	+	2	0	CARM1	10885683	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.439000	0.97543	2.446000	0.82766	0.645000	0.84053	CGC		0.642	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		8	8	0	0	0	1	0	8	8					A	11024683	G	A	11024683	3	1	435	1	0	0	0	0	1	0	0	0	2655	1087	38	1	822	1	CARM1	19	11024683	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	108053	11024683	48104300	8026	28951											
CARM1	10498	broad.mit.edu	37	chr19	11031734	11031734	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggacacagggatgccgAccgcctatgacttgagcagt	9	8	12	12	2	1	2	0	2	1	0	1	5	1	4	3	2	2	1	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11031734A>G	ENST00000327064.4	+	14	1736	c.1546A>G	c.(1546-1548)Acc>Gcc	p.T516A	CARM1_ENST00000344150.4_Missense_Mutation_p.T516A	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	516	Transactivation domain. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						AGGGATGCCGACCGCCTATGA	0.662																																						ENST00000327064.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(1546-1548)Acc>Gcc		coactivator-associated arginine methyltransferase 1							49	48	48					19																	11031734		2203	4300	6503	SO:0001583	missense	10498				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	g.chr19:11031734A>G	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"Protein arginine methyltransferases"	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1546A>G	19.37:g.11031734A>G	ENSP00000325690:p.Thr516Ala					CARM1_ENST00000344150.4_Missense_Mutation_p.T516A	p.T516A	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			14	1736	+			516			Transactivation domain (By similarity).		A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.1546A>G	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	A	9.236	1.036964	0.19669	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.26373	1.74;1.8	5.02	2.94	0.34122	.	0.205138	0.41194	D	0.000927	T	0.19208	0.0461	L	0.44542	1.39	0.35279	D	0.781181	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.16364	-1.0405	10	0.23891	T	0.37	-4.0225	8.5016	0.33161	0.848:0.0:0.152:0.0	.	516;516	Q86X55-1;Q86X55	.;CARM1_HUMAN	A	516	ENSP00000325690:T516A;ENSP00000340934:T516A	ENSP00000325690:T516A	T	+	1	0	CARM1	10892734	0.359000	0.24955	0.684000	0.30055	0.445000	0.32107	1.364000	0.34171	0.277000	0.22141	0.519000	0.50382	ACC		0.662	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		9	25	0	0	0	1	0	9	25					G	11031734	A	G	11031734	3	3	435	1	0	0	0	0	1	0	0	0	2655	275	10	4	1600	4	CARM1	19	11031734	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	7051	11031734	48097249	8027	28952											
SMARCA4	6597	broad.mit.edu	37	chr19	11118668	11118668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatccagacagcgatgacGtctctgaggtggacgcgcgg	9	6	15	11	5	1	4	0	2	1	2	3	6	2	5	1	3	1	0	1	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11118668G>A	ENST00000429416.3	+	15	2373	c.2092G>A	c.(2092-2094)Gtc>Atc	p.V698I	SMARCA4_ENST00000541122.2_Missense_Mutation_p.V698I|SMARCA4_ENST00000344626.4_Missense_Mutation_p.V698I|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000590574.1_Missense_Mutation_p.V698I|SMARCA4_ENST00000358026.2_Missense_Mutation_p.V698I|SMARCA4_ENST00000444061.3_Missense_Mutation_p.V698I|SMARCA4_ENST00000589677.1_Missense_Mutation_p.V698I|SMARCA4_ENST00000413806.3_Missense_Mutation_p.V698I|SMARCA4_ENST00000450717.3_Missense_Mutation_p.V698I	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	698					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAGCGATGACGTCTCTGAGGT	0.602			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2092-2094)Gtc>Atc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							115	87	97					19																	11118668		2203	4300	6503	SO:0001583	missense	6597				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	g.chr19:11118668G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2092G>A	19.37:g.11118668G>A	ENSP00000395654:p.Val698Ile					SMARCA4_ENST00000589677.1_Missense_Mutation_p.V698I|SMARCA4_ENST00000541122.2_Missense_Mutation_p.V698I|SMARCA4_ENST00000590574.1_Missense_Mutation_p.V698I|SMARCA4_ENST00000413806.3_Missense_Mutation_p.V698I|SMARCA4_ENST00000344626.4_Missense_Mutation_p.V698I|SMARCA4_ENST00000450717.3_Missense_Mutation_p.V698I|SMARCA4_ENST00000429416.3_Missense_Mutation_p.V698I|SMARCA4_ENST00000444061.3_Missense_Mutation_p.V698I	p.V698I	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			14	2376	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	698					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2092G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731638	0.69189	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.17;-2.17;-2.17;-2.17	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	D	0.86121	0.5857	L	0.58101	1.795	0.50813	D	0.999895	P;B;B;B;P;B;B	0.48294	0.454;0.259;0.259;0.01;0.908;0.036;0.036	B;B;B;B;B;B;B	0.42916	0.018;0.029;0.029;0.007;0.402;0.007;0.007	D	0.85688	0.1305	10	0.35671	T	0.21	-38.1275	17.6521	0.88167	0.0:0.0:1.0:0.0	.	698;698;698;698;698;698;698	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	I	698;698;762;698;698;698;698;698	ENSP00000395654:V698I;ENSP00000350720:V698I;ENSP00000343896:V698I;ENSP00000445036:V698I;ENSP00000392837:V698I;ENSP00000397783:V698I;ENSP00000414727:V698I	ENSP00000343896:V698I	V	+	1	0	SMARCA4	10979668	1.000000	0.71417	0.998000	0.56505	0.780000	0.44128	9.515000	0.98015	2.709000	0.92574	0.561000	0.74099	GTC		0.602	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		7	13	0	0	0	1	0	7	13					A	11118668	G	A	11118668	3	1	435	1	0	0	0	0	1	0	0	0	14770	1145	40	1	2142	1	SMARCA4	19	11118668	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	86934	11118668	48010315	8028	28953											
SMARCA4	6597	broad.mit.edu	37	chr19	11123674	11123674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtacaacaacaacctgaacgGcatcctggccgacgagatgg	13	5	11	12	3	0	2	0	1	0	1	1	4	1	2	3	3	5	2	3	3	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11123674G>A	ENST00000429416.3	+	17	2605	c.2324G>A	c.(2323-2325)gGc>gAc	p.G775D	SMARCA4_ENST00000541122.2_Missense_Mutation_p.G775D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G775D|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G775D|SMARCA4_ENST00000358026.2_Missense_Mutation_p.G775D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G775D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G775D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G775D|RN7SL192P_ENST00000584303.1_RNA|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G775D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	775	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AACCTGAACGGCATCCTGGCC	0.587			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2323-2325)gGc>gAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							149	105	120					19																	11123674		2203	4300	6503	SO:0001583	missense	6597				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	g.chr19:11123674G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2324G>A	19.37:g.11123674G>A	ENSP00000395654:p.Gly775Asp					SMARCA4_ENST00000589677.1_Missense_Mutation_p.G775D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G775D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G775D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G775D|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G775D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G775D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G775D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G775D	p.G775D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			16	2608	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	775			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2324G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619948	0.87460	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72	4.73	3.7	0.42460	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	H	0.99379	4.54	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999;0.999;0.999	D	0.98402	1.0568	10	0.87932	D	0	-36.2999	11.9844	0.53138	0.0859:0.0:0.9141:0.0	.	775;775;775;775;775;775;775	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	D	775;775;839;775;775;775;775;775	ENSP00000395654:G775D;ENSP00000350720:G775D;ENSP00000343896:G775D;ENSP00000445036:G775D;ENSP00000392837:G775D;ENSP00000397783:G775D;ENSP00000414727:G775D	ENSP00000343896:G775D	G	+	2	0	SMARCA4	10984674	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.657000	0.98554	1.223000	0.43536	0.655000	0.94253	GGC		0.587	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		8	18	0	0	0	1	0	8	18					A	11123674	G	A	11123674	3	1	435	1	0	0	0	0	1	0	0	0	14770	1203	42	3	2382	3	SMARCA4	19	11123674	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5006	11123674	48005309	8029	28954											
LDLR	3949	broad.mit.edu	37	chr19	11221443	11221443	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggcccagcgaagatgCgaaggtgatttccgggtggg	7	8	18	8	3	0	2	0	1	0	1	1	4	1	2	2	5	2	0	2	5	2	1	rs13306515	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11221443C>T	ENST00000558518.1	+	7	1243	c.1056C>T	c.(1054-1056)tgC>tgT	p.C352C	LDLR_ENST00000557933.1_Silent_p.C352C|LDLR_ENST00000535915.1_Silent_p.C311C|LDLR_ENST00000545707.1_Silent_p.C225C|LDLR_ENST00000558013.1_Silent_p.C352C|LDLR_ENST00000455727.2_Silent_p.C184C	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	352	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.		C -> Y (in Mexico-2).		cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	AGCGAAGATGCGAAGGTGATT	0.597													C|||	6	0.00119808	0	0	5008	,	,		16413	0.005		0	False		,,,				2504	0.001				GBM(18;201 575 7820 21545)	ENST00000558518.1																			1	Unknown(1)	p.?(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	GRCh37	CD995138|CM981187|CM990799	LDLR	D|M	rs13306515	c.(1054-1056)tgC>tgT		low density lipoprotein receptor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						87	79	82					19																	11221443		2203	4300	6503	SO:0001819	synonymous_variant	3949				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	g.chr19:11221443C>T	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1056C>T	19.37:g.11221443C>T						LDLR_ENST00000545707.1_Silent_p.C225C|LDLR_ENST00000535915.1_Silent_p.C311C|LDLR_ENST00000455727.2_Silent_p.C184C|LDLR_ENST00000558013.1_Silent_p.C352C|LDLR_ENST00000557933.1_Silent_p.C352C	p.C352C	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	7	1243	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	352		C -> Y (in Mexico-2).	EGF-like 1.		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	ENST00000558518.1	37	c.1056C>T	CCDS12254.1																																																																																				0.597	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			11	31	0	0	0	1	0	11	31					T	11221443	C	T	11221443	2	4	435	1	0	0	0	0	0	0	0	1	8704	776	27	1		1	LDLR	19	11221443	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	97769	11221443	47907540	8030	28955											
KANK2	25959	broad.mit.edu	37	chr19	11304609	11304609	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttctcgatgtcatccacGtacttgaggaagtccaggtc	8	11	9	13	2	2	1	1	1	1	0	6	3	4	2	3	2	1	1	3	2	2	3	rs142504157		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11304609G>A	ENST00000586659.1	-	4	461	c.147C>T	c.(145-147)taC>taT	p.Y49Y	KANK2_ENST00000589359.1_Silent_p.Y49Y|KANK2_ENST00000432929.2_Silent_p.Y49Y|KANK2_ENST00000355150.5_Silent_p.Y49Y|KANK2_ENST00000589894.1_Silent_p.Y49Y			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	49	Interaction with AIFM1.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGTCATCCACGTACTTGAGGA	0.687																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(145-147)taC>taT		KN motif and ankyrin repeat domains 2		G	,	1,4405	2.1+/-5.4	0,1,2202	47	51	50		147,147	0.4	1	19	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KANK2	NM_001136191.2,NM_015493.6	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	49/852,49/860	11304609	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25959							g.chr19:11304609G>A	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.147C>T	19.37:g.11304609G>A						KANK2_ENST00000589359.1_Silent_p.Y49Y|KANK2_ENST00000586659.1_Silent_p.Y49Y|KANK2_ENST00000589894.1_Silent_p.Y49Y|KANK2_ENST00000355150.5_Silent_p.Y49Y	p.Y49Y	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	507	-			49					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	c.147C>T	CCDS12255.1																																																																																				0.687	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		22	26	0	0	0	1	0	22	26					A	11304609	G	A	11304609	2	1	435	1	0	0	0	0	0	0	0	1	7977	1140	40	1		1	KANK2	19	11304609	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	83166	11304609	47824374	8031	28956											
DOCK6	57572	broad.mit.edu	37	chr19	11325274	11325274	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaccactaggcttgcctcGgttgccaggttcccttccac	7	10	9	15	1	0	1	0	0	0	1	3	1	2	1	5	3	3	3	5	3	2	5	rs368169906		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11325274G>A	ENST00000294618.7	-	33	4169	c.4158C>T	c.(4156-4158)acC>acT	p.T1386T	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Silent_p.T725T	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1386					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGCTTGCCTCGGTTGCCAGGT	0.582																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(4156-4158)acC>acT		dedicator of cytokinesis 6		G		0,4214		0,0,2107	115	121	119		4158	-11.1	0	19		119	1,8427		0,1,4213	no	coding-synonymous	DOCK6	NM_020812.2		0,1,6320	AA,AG,GG		0.0119,0.0,0.0079		1386/2048	11325274	1,12641	2107	4214	6321	SO:0001819	synonymous_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11325274G>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4158C>T	19.37:g.11325274G>A						CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Silent_p.T725T	p.T1386T	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			33	4169	-			1386					A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	c.4158C>T	CCDS45975.1																																																																																				0.582	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		8	34	0	0	0	1	0	8	34					A	11325274	G	A	11325274	2	1	435	1	0	0	0	0	0	0	0	1	4691	1103	39	2		2	DOCK6	19	11325274	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20665	11325274	47803709	8032	28957											
DOCK6	57572	broad.mit.edu	37	chr19	11361693	11361693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgccaggttcctcaggtCgaagatgctagaggcaccac	10	7	12	12	1	1	2	1	0	0	2	3	3	2	2	3	3	3	4	3	3	2	2	rs376784362		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11361693C>T	ENST00000294618.7	-	6	588	c.577G>A	c.(577-579)Gac>Aac	p.D193N		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	193					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TTCCTCAGGTCGAAGATGCTA	0.617																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(577-579)Gac>Aac		dedicator of cytokinesis 6		C	ASN/ASP	1,3951		0,1,1975	29	34	32		577	3.8	1	19		32	1,8305		0,1,4152	no	missense	DOCK6	NM_020812.2	23	0,2,6127	TT,TC,CC		0.012,0.0253,0.0163	benign	193/2048	11361693	2,12256	1976	4153	6129	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11361693C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.577G>A	19.37:g.11361693C>T	ENSP00000294618:p.Asp193Asn						p.D193N	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			6	588	-			193					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.577G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103069	0.56183	2.53E-4	1.2E-4	ENSG00000130158	ENST00000294618	T	0.18810	2.19	4.87	3.83	0.44106	.	0.106426	0.64402	D	0.000007	T	0.20941	0.0504	M	0.63169	1.94	0.80722	D	1	P	0.36249	0.545	B	0.32342	0.144	T	0.02975	-1.1087	10	0.49607	T	0.09	-24.366	11.2214	0.48857	0.0:0.9058:0.0:0.0942	.	193	Q96HP0	DOCK6_HUMAN	N	193	ENSP00000294618:D193N	ENSP00000294618:D193N	D	-	1	0	DOCK6	11222693	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	5.479000	0.66813	1.013000	0.39391	0.462000	0.41574	GAC		0.617	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		6	25	0	0	0	1	0	6	25					T	11361693	C	T	11361693	3	4	435	1	0	0	0	0	1	0	0	0	4691	884	31	2	5738	2	DOCK6	19	11361693	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	36419	11361693	47767290	8033	28958											
CCDC159	126075	broad.mit.edu	37	chr19	11464166	11464166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggtcatgagacagccGcctgtccggagactgaagag	11	5	15	10	2	1	4	1	2	0	3	2	6	2	4	3	2	2	1	3	2	1	0	rs550009750		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11464166G>A	ENST00000588790.1	+	10	1054	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	DKFZP761J1410_ENST00000591608.1_5'Flank|CCDC159_ENST00000458408.1_Missense_Mutation_p.A203T|DKFZP761J1410_ENST00000251473.5_5'Flank			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	318										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						TGAGACAGCCGCCTGTCCGGA	0.547													G|||	1	0.000199681	0	0.0014	5008	,	,		16548	0		0	False		,,,				2504	0					ENST00000588790.1																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(607-609)Gcc>Acc		coiled-coil domain containing 159							20	23	22					19																	11464166		1998	4174	6172	SO:0001583	missense	126075							g.chr19:11464166G>A	BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.607G>A	19.37:g.11464166G>A	ENSP00000468232:p.Ala203Thr					CCDC159_ENST00000458408.1_Missense_Mutation_p.A203T	p.A203T			P0C7I6	CC159_HUMAN			10	1054	+			318					B4DEG3|B4DWR8|B4E133|B7ZAM4	Missense_Mutation	SNP	ENST00000588790.1	37	c.607G>A	CCDS45976.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275810	0.23307	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	T	0.44482	0.92	3.7	-5.13	0.02884	.	.	.	.	.	T	0.16896	0.0406	L	0.29908	0.895	0.09310	N	1	P;B	0.37398	0.593;0.005	B;B	0.28465	0.09;0.001	T	0.24512	-1.0158	9	0.15499	T	0.54	.	0.7529	0.00994	0.2775:0.1401:0.1406:0.4418	.	318;203	P0C7I6;P0C7I6-2	CC159_HUMAN;.	T	203;318	ENSP00000402239:A203T	ENSP00000390400:A318T	A	+	1	0	CCDC159	11325166	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.157000	0.10085	-0.977000	0.03537	-0.258000	0.10820	GCC		0.547	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458761.1	NM_001080503		4	3	0	0	0	1	0	4	3					A	11464166	G	A	11464166	3	1	435	1	0	0	0	0	1	0	0	0	2791	1087	38	1	637	1	CCDC159	19	11464166	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	102473	11464166	47664817	8034	28959											
LPPR2	64748	broad.mit.edu	37	chr19	11470258	11470258	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttaccgcctggagttcacGgacaccttccctgtgcacac	7	9	9	16	2	1	0	1	0	0	0	2	2	2	2	4	2	2	3	4	2	1	3	rs145767785		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11470258G>A	ENST00000251473.5	+	4	493	c.117G>A	c.(115-117)acG>acA	p.T39T	DKFZP761J1410_ENST00000591608.1_Intron|DKFZP761J1410_ENST00000586431.1_3'UTR	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TGGAGTTCACGGACACCTTCC	0.622																																						ENST00000251473.5																			0											c.(115-117)acG>acA					,	0,4406		0,0,2203	128	95	106		,117	-10.2	0.7	19	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	LPPR2	NM_001170635.1,NM_022737.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,39/344	11470258	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:11470258G>A																												ENST00000251473.5:c.117G>A	19.37:g.11470258G>A						DKFZP761J1410_ENST00000591608.1_Intron|DKFZP761J1410_ENST00000586431.1_3'UTR	p.T39T	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2					4	493	+									Silent	SNP	ENST00000251473.5	37	c.117G>A	CCDS12258.1																																																																																				0.622	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			17	18	0	0	0	1	0	17	18					A	11470258	G	A	11470258	2	1	435	1	0	0	0	0	0	0	0	1	8925	1103	39	2		2	LPPR2	19	11470258	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6092	11470258	47658725	8035	28960											
LPPR2	64748	broad.mit.edu	37	chr19	11471980	11471980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcccacgccacacttcctgtCcgtgtgccgccccaactaca	7	8	6	20	3	0	0	0	0	0	0	3	0	3	0	7	0	3	0	7	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11471980C>T	ENST00000251473.5	+	6	855	c.479C>T	c.(478-480)tCc>tTc	p.S160F	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.S135F	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CACTTCCTGTCCGTGTGCCGC	0.667																																						ENST00000251473.5																			0											c.(478-480)tCc>tTc									74	56	62					19																	11471980		2203	4299	6502	SO:0001583	missense	0							g.chr19:11471980C>T																												ENST00000251473.5:c.479C>T	19.37:g.11471980C>T	ENSP00000251473:p.Ser160Phe					DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.S135F	p.S160F	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2					6	855	+									Missense_Mutation	SNP	ENST00000251473.5	37	c.479C>T	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	c	33	5.215742	0.95104	.	.	ENSG00000105520	ENST00000251473	T	0.40476	1.03	5.18	5.18	0.71444	.	0.057559	0.64402	D	0.000001	T	0.62282	0.2415	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.69078	0.997;0.987	D;D	0.69479	0.964;0.934	T	0.65709	-0.6102	10	0.87932	D	0	-44.4706	17.485	0.87684	0.0:1.0:0.0:0.0	.	135;160	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	F	160	ENSP00000251473:S160F	ENSP00000251473:S160F	S	+	2	0	AC024575.1	11332980	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	7.123000	0.77176	2.422000	0.82143	0.450000	0.29827	TCC		0.667	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			13	28	0	0	0	1	0	13	28					T	11471980	C	T	11471980	3	4	435	1	0	0	0	0	1	0	0	0	8925	855	30	3	493	3	LPPR2	19	11471980	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1722	11471980	47657003	8036	28961											
LPPR2	64748	broad.mit.edu	37	chr19	11472018	11472018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acacggccctgggctgcctgCcaccttctccggatcggcca	5	7	11	18	3	1	0	0	0	1	0	3	1	1	1	6	4	2	1	6	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11472018C>T	ENST00000251473.5	+	6	893	c.517C>T	c.(517-519)Cca>Tca	p.P173S	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.P148S	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					GGGCTGCCTGCCACCTTCTCC	0.706																																						ENST00000251473.5																			0											c.(517-519)Cca>Tca									56	46	49					19																	11472018		2203	4299	6502	SO:0001583	missense	0							g.chr19:11472018C>T																												ENST00000251473.5:c.517C>T	19.37:g.11472018C>T	ENSP00000251473:p.Pro173Ser					DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.P148S	p.P173S	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2					6	893	+									Missense_Mutation	SNP	ENST00000251473.5	37	c.517C>T	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	c	6.059	0.379225	0.11466	.	.	ENSG00000105520	ENST00000251473	T	0.74737	-0.87	5.18	5.18	0.71444	.	0.000000	0.52532	D	0.000068	T	0.47021	0.1423	N	0.02865	-0.47	0.39882	D	0.973656	B;B	0.16802	0.019;0.005	B;B	0.24541	0.054;0.017	T	0.49808	-0.8900	10	0.06365	T	0.9	-24.6217	11.0621	0.47953	0.0:0.9129:0.0:0.0871	.	148;173	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	S	173	ENSP00000251473:P173S	ENSP00000251473:P173S	P	+	1	0	AC024575.1	11333018	0.994000	0.37717	0.357000	0.25798	0.130000	0.20726	4.159000	0.58157	2.422000	0.82143	0.450000	0.29827	CCA		0.706	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			10	29	0	0	0	1	0	10	29					T	11472018	C	T	11472018	3	4	435	1	0	0	0	0	1	0	0	0	8925	739	26	3	531	3	LPPR2	19	11472018	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	38	11472018	47656965	8037	28962											
LPPR2	64748	broad.mit.edu	37	chr19	11474850	11474850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctcaggaacccgaggtctGcaggccgcattcgacaccgg	8	6	13	14	4	2	0	1	0	2	0	4	3	2	1	3	4	2	2	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11474850G>A	ENST00000251473.5	+	9	1337	c.961G>A	c.(961-963)Gca>Aca	p.A321T	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.C301Y	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CCCGAGGTCTGCAGGCCGCAT	0.652																																						ENST00000251473.5																			0											c.(961-963)Gca>Aca									69	78	75					19																	11474850		2203	4300	6503	SO:0001583	missense	0							g.chr19:11474850G>A																												ENST00000251473.5:c.961G>A	19.37:g.11474850G>A	ENSP00000251473:p.Ala321Thr					DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.C301Y	p.A321T	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2					9	1337	+									Missense_Mutation	SNP	ENST00000251473.5	37	c.961G>A	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085648	0.36758	.	.	ENSG00000105520	ENST00000251473	T	0.30981	1.51	4.3	3.24	0.37175	.	27.556500	0.00991	N	0.003520	T	0.21881	0.0527	.	.	.	0.38541	D	0.949217	B	0.20780	0.048	B	0.24006	0.05	T	0.16394	-1.0404	9	0.10636	T	0.68	.	10.3849	0.44134	0.0:0.1982:0.8017:0.0	.	321	Q96GM1	LPPR2_HUMAN	T	321	ENSP00000251473:A321T	ENSP00000251473:A321T	A	+	1	0	AC024575.1	11335850	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.307000	0.33516	1.133000	0.42147	0.491000	0.48974	GCA		0.652	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			30	61	0	0	0	1	0	30	61					A	11474850	G	A	11474850	3	1	435	1	0	0	0	0	1	0	0	0	8925	1319	46	3	1003	3	LPPR2	19	11474850	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2832	11474850	47654133	8038	28963											
RGL3	57139	broad.mit.edu	37	chr19	11527598	11527598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtaggtggccaggaaggCgggcatgaagctggggtcct	7	6	19	9	2	0	1	0	1	0	0	1	2	1	2	3	8	1	3	3	8	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11527598C>T	ENST00000380456.3	-	3	346	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	RGL3_ENST00000393423.3_Missense_Mutation_p.A95T	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	95	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GCCAGGAAGGCGGGCATGAAG	0.652																																					GBM(174;751 2067 17998 27979 33959)	ENST00000380456.3																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						c.(283-285)Gcc>Acc		ral guanine nucleotide dissociation stimulator-like 3							80	79	79					19																	11527598		2203	4300	6503	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11527598C>T	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.283G>A	19.37:g.11527598C>T	ENSP00000369823:p.Ala95Thr					RGL3_ENST00000393423.3_Missense_Mutation_p.A95T	p.A95T	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN			3	346	-			95			N-terminal Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.283G>A	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243182	0.58995	.	.	ENSG00000205517	ENST00000393423;ENST00000380456;ENST00000453604	T;T	0.43688	0.94;0.94	4.5	4.5	0.54988	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.264357	0.37393	N	0.002112	T	0.44435	0.1293	L	0.28274	0.84	0.32048	N	0.597268	D;P;P	0.69078	0.997;0.801;0.911	P;P;B	0.62382	0.901;0.49;0.28	T	0.53457	-0.8436	10	0.56958	D	0.05	.	8.6019	0.33749	0.0:0.892:0.0:0.108	.	95;95;95	B4DPC9;Q3MIN7;B5ME84	.;RGL3_HUMAN;.	T	95	ENSP00000377075:A95T;ENSP00000369823:A95T	ENSP00000369823:A95T	A	-	1	0	RGL3	11388598	0.501000	0.26099	0.936000	0.37596	0.303000	0.27691	0.750000	0.26334	2.046000	0.60703	0.561000	0.74099	GCC		0.652	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		8	29	0	0	0	1	0	8	29					T	11527598	C	T	11527598	3	4	435	1	0	0	0	0	1	0	0	0	13278	768	27	1	1935	1	RGL3	19	11527598	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	52748	11527598	47601385	8039	28964											
RGL3	57139	broad.mit.edu	37	chr19	11527672	11527672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctccaggcgcgctgccCtcagcaccctcaccttgctg	4	7	10	20	3	2	0	2	0	0	0	3	0	3	0	5	1	3	4	5	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11527672C>A	ENST00000380456.3	-	3	272	c.209G>T	c.(208-210)aGg>aTg	p.R70M	RGL3_ENST00000393423.3_Missense_Mutation_p.R70M	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	70	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GCGCGCTGCCCTCAGCACCCT	0.632																																					GBM(174;751 2067 17998 27979 33959)	ENST00000380456.3																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						c.(208-210)aGg>aTg		ral guanine nucleotide dissociation stimulator-like 3							54	54	54					19																	11527672		2203	4300	6503	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11527672C>A	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.209G>T	19.37:g.11527672C>A	ENSP00000369823:p.Arg70Met					RGL3_ENST00000393423.3_Missense_Mutation_p.R70M	p.R70M	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN			3	272	-			70			N-terminal Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.209G>T	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927799	0.34002	.	.	ENSG00000205517	ENST00000393423;ENST00000380456;ENST00000453604	T;T	0.52057	0.68;0.68	4.2	1.92	0.25849	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.103997	0.64402	D	0.000011	T	0.63698	0.2533	M	0.80422	2.495	0.36957	D	0.893165	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.969;0.995;0.993	T	0.68217	-0.5467	10	0.87932	D	0	.	6.315	0.21186	0.0:0.7014:0.1913:0.1074	.	70;70;70	B4DPC9;Q3MIN7;B5ME84	.;RGL3_HUMAN;.	M	70	ENSP00000377075:R70M;ENSP00000369823:R70M	ENSP00000369823:R70M	R	-	2	0	RGL3	11388672	0.998000	0.40836	0.096000	0.21009	0.051000	0.14879	1.431000	0.34925	0.819000	0.34492	0.561000	0.74099	AGG		0.632	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		4	10	1	0	0.000602214	1	0.000612743	4	10					A	11527672	C	A	11527672	3	1	435	1	0	0	0	0	1	0	0	0	13278	681	24	5	2009	5	RGL3	19	11527672	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	74	11527672	47601311	8040	28965											
PRKCSH	5589	broad.mit.edu	37	chr19	11560163	11560163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacctcatggagctgatgaCgccagccgcctgcccggagc	7	6	13	15	3	1	2	1	2	0	0	1	4	1	4	5	2	5	2	5	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11560163C>T	ENST00000589838.1	+	16	1523	c.1523C>T	c.(1522-1524)aCg>aTg	p.T508M	PRKCSH_ENST00000252455.2_Missense_Mutation_p.T508M|PRKCSH_ENST00000587327.1_Missense_Mutation_p.T505M|PRKCSH_ENST00000591462.1_Missense_Mutation_p.T505M|PRKCSH_ENST00000592741.1_Missense_Mutation_p.T515M|PRKCSH_ENST00000412601.1_Missense_Mutation_p.T505M			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	508					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.T508M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						GAGCTGATGACGCCAGCCGCC	0.667																																						ENST00000252455.2																			1	Substitution - Missense(1)	p.T508M(1)	ovary(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(1522-1524)aCg>aTg		protein kinase C substrate 80K-H							57	57	57					19																	11560163		2203	4299	6502	SO:0001583	missense	5589				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	g.chr19:11560163C>T		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1523C>T	19.37:g.11560163C>T	ENSP00000465461:p.Thr508Met					PRKCSH_ENST00000587327.1_Missense_Mutation_p.T505M|PRKCSH_ENST00000589838.1_Missense_Mutation_p.T508M|PRKCSH_ENST00000591462.1_Missense_Mutation_p.T505M|PRKCSH_ENST00000412601.1_Missense_Mutation_p.T505M|PRKCSH_ENST00000592741.1_Missense_Mutation_p.T515M	p.T508M	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			17	1859	+			508					A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.1523C>T	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189822	0.57909	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	D;D	0.84944	-1.92;-1.92	3.84	2.81	0.32909	Mannose-6-phosphate receptor, binding (1);	0.120946	0.53938	D	0.000043	D	0.92672	0.7671	M	0.91972	3.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	D	0.92491	0.6000	10	0.87932	D	0	-17.1886	9.9607	0.41695	0.0:0.8969:0.0:0.1031	.	515;515;505;508	E7EQZ9;B4DJQ5;A8K318;P14314	.;.;.;GLU2B_HUMAN	M	508;505	ENSP00000252455:T508M;ENSP00000395616:T505M	ENSP00000252455:T508M	T	+	2	0	PRKCSH	11421163	0.987000	0.35691	0.011000	0.14972	0.518000	0.34316	3.661000	0.54503	0.815000	0.34398	0.655000	0.94253	ACG		0.667	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			25	43	0	0	0	1	0	25	43					T	11560163	C	T	11560163	3	4	435	1	0	0	0	0	1	0	0	0	12516	536	19	1	1606	1	PRKCSH	19	11560163	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32491	11560163	47568820	8041	28966											
ELAVL3	1995	broad.mit.edu	37	chr19	11565665	11565665	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccatcgatggcgatcggCgagaacctggcgatgagcga	11	6	14	10	6	0	2	0	1	0	1	2	7	0	2	2	3	3	0	2	3	2	1	rs528658221		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11565665C>T	ENST00000359227.3	-	7	1204	c.780G>A	c.(778-780)tcG>tcA	p.S260S	ELAVL3_ENST00000438662.2_Silent_p.S253S	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	260					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGGCGATCGGCGAGAACCTGG	0.682													c|||	1	0.000199681	0	0	5008	,	,		13406	0		0	False		,,,				2504	0.001					ENST00000359227.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(778-780)tcG>tcA		ELAV like neuron-specific RNA binding protein 3							104	117	113					19																	11565665		2202	4291	6493	SO:0001819	synonymous_variant	1995				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	g.chr19:11565665C>T		CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"RNA binding motif (RRM) containing"	3314	protein-coding gene	gene with protein product	"Hu antigen C", "paraneoplastic limbic encephalitis antigen 21", "paraneoplastic cerebellar degeneration-associated antigen", "ELAV-like protein 3"	603458	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.780G>A	19.37:g.11565665C>T						ELAVL3_ENST00000438662.2_Silent_p.S253S	p.S260S	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN			7	1204	-			260					Q16135|Q96CL8|Q96QS9	Silent	SNP	ENST00000359227.3	37	c.780G>A	CCDS32912.1																																																																																				0.682	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420		54	98	0	0	0	1	0	54	98					T	11565665	C	T	11565665	2	4	435	1	0	0	0	0	0	0	0	1	5051	755	27	1		1	ELAVL3	19	11565665	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5502	11565665	47563318	8042	28967											
ELOF1	84337	broad.mit.edu	37	chr19	11664579	11664579	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctactgattggccgcctcGcaggcgtctatccaatcact	7	10	9	15	4	2	1	1	1	1	0	4	1	3	1	3	2	1	2	3	2	3	3	rs139453256		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11664579G>A	ENST00000252445.3	-	4	297	c.234C>T	c.(232-234)tgC>tgT	p.C78C	ELOF1_ENST00000587806.1_Silent_p.C99C|ELOF1_ENST00000589171.1_3'UTR|ELOF1_ENST00000586683.1_Intron|ELOF1_ENST00000591912.1_3'UTR|ELOF1_ENST00000591674.1_Silent_p.C85C|ELOF1_ENST00000586120.1_Silent_p.C78C|ELOF1_ENST00000590700.1_Silent_p.C78C	NM_032377.3	NP_115753.1	P60002	ELOF1_HUMAN	elongation factor 1 homolog (S. cerevisiae)	78					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(3)|lung(2)	5						TGGCCGCCTCGCAGGCGTCTA	0.592																																						ENST00000587806.1																			0				endometrium(3)|lung(2)	5						c.(295-297)tgC>tgT		elongation factor 1 homolog (S. cerevisiae)		G		2,4404	4.2+/-10.8	0,2,2201	70	67	68		234	-3.2	1	19	dbSNP_134	68	0,8600		0,0,4300	no	coding-synonymous	ELOF1	NM_032377.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		78/84	11664579	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84337				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr19:11664579G>A	AK001171	CCDS12264.1	19p13.2	2008-02-05	2006-02-13			ENSG00000130165			28691	protein-coding gene	gene with protein product			"elongation factor 1 homolog (ELF1, S. cerevisiae)"			12477932	Standard	NM_032377		Approved	MGC4549, ELF1	uc002mse.1	P60002		ENST00000252445.3:c.234C>T	19.37:g.11664579G>A						ELOF1_ENST00000252445.3_Silent_p.C78C|ELOF1_ENST00000591674.1_Silent_p.C85C|ELOF1_ENST00000591912.1_3'UTR|ELOF1_ENST00000590700.1_Silent_p.C78C|ELOF1_ENST00000589171.1_3'UTR|ELOF1_ENST00000586683.1_Intron|ELOF1_ENST00000586120.1_Silent_p.C78C	p.C99C			P60002	ELOF1_HUMAN			5	454	-			78					Q8R1J7|Q96II4	Silent	SNP	ENST00000252445.3	37	c.297C>T	CCDS12264.1																																																																																				0.592	ELOF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458868.1	NM_032377		13	25	0	0	0	1	0	13	25					A	11664579	G	A	11664579	2	1	435	1	0	0	0	0	0	0	0	1	5072	1079	38	1		1	ELOF1	19	11664579	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	98914	11664579	47464404	8043	28968											
ZNF440	126070	broad.mit.edu	37	chr19	11942387	11942387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggtgacattggacacaaGgcatatgagtatcaggaata	16	8	12	5	0	1	3	1	2	0	1	1	5	1	5	0	4	0	2	0	4	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11942387G>T	ENST00000304060.5	+	4	560	c.396G>T	c.(394-396)aaG>aaT	p.K132N		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTGGACACAAGGCATATGAGT	0.413																																						ENST00000304060.5																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(394-396)aaG>aaT		zinc finger protein 440							182	182	182					19																	11942387		2203	4300	6503	SO:0001583	missense	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11942387G>T	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"Zinc fingers, C2H2-type", "-"	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.396G>T	19.37:g.11942387G>T	ENSP00000305373:p.Lys132Asn						p.K132N	NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN			4	560	+			132					Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	c.396G>T	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	g	10.92	1.488155	0.26686	.	.	ENSG00000171295	ENST00000304060;ENST00000457526;ENST00000427505;ENST00000414255	T;T;T;T	0.09163	3.01;6.62;3.22;5.37	0.91	-1.71	0.08133	.	.	.	.	.	T	0.32010	0.0815	M	0.89968	3.075	0.09310	N	1	D	0.76494	0.999	D	0.68765	0.96	T	0.07927	-1.0747	9	0.72032	D	0.01	.	6.4463	0.21877	0.466:0.0:0.534:0.0	.	132	Q8IYI8	ZN440_HUMAN	N	132;10;135;134	ENSP00000305373:K132N;ENSP00000404425:K10N;ENSP00000393489:K135N;ENSP00000411974:K134N	ENSP00000305373:K132N	K	+	3	2	ZNF440	11803387	0.002000	0.14202	0.001000	0.08648	0.040000	0.13550	-0.785000	0.04628	-0.679000	0.05217	0.205000	0.17691	AAG		0.413	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		73	111	1	0	3.83446e-41	1	4.3104e-41	73	111					T	11942387	G	T	11942387	3	4	435	1	0	0	0	0	1	0	0	0	17910	991	35	5	410	5	ZNF440	19	11942387	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	277808	11942387	47186596	8044	28969											
ZNF763	284390	broad.mit.edu	37	chr19	12089533	12089533	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaatgtgggaaagcatTccatagttccagttcttttc	10	14	8	9	0	2	0	1	0	1	0	5	1	4	1	2	1	2	4	2	1	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12089533T>C	ENST00000358987.3	+	4	921	c.794T>C	c.(793-795)tTc>tCc	p.F265S	ZNF763_ENST00000538752.1_Missense_Mutation_p.F285S|ZNF763_ENST00000545530.1_Missense_Mutation_p.F143S|ZNF763_ENST00000590798.1_Missense_Mutation_p.F285S|ZNF763_ENST00000343949.5_Missense_Mutation_p.F268S			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						GGGAAAGCATTCCATAGTTCC	0.398																																						ENST00000343949.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(802-804)tTc>tCc		zinc finger protein 763							59	62	61					19																	12089533		2198	4299	6497	SO:0001583	missense	284390							g.chr19:12089533T>C	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"Zinc fingers, C2H2-type", "-"	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.794T>C	19.37:g.12089533T>C	ENSP00000402017:p.Phe265Ser					ZNF763_ENST00000545530.1_Missense_Mutation_p.F143S|ZNF763_ENST00000358987.3_Missense_Mutation_p.F265S|ZNF763_ENST00000590798.1_Missense_Mutation_p.F285S|ZNF763_ENST00000538752.1_Missense_Mutation_p.F285S	p.F268S	NM_001012753.1	NP_001012771.1					4	958	+								B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.803T>C		.	.	.	.	.	.	.	.	.	.	t	14.73	2.622902	0.46840	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	1.4	1.4	0.22301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.70465	0.3227	M	0.91406	3.205	0.24115	N	0.995823	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.989;0.992;0.986	T	0.57010	-0.7884	9	0.87932	D	0	.	7.6577	0.28386	0.0:0.0:0.0:1.0	.	285;265;268	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	S	285;268;143;265	ENSP00000438117:F285S;ENSP00000369774:F268S;ENSP00000446166:F143S;ENSP00000402017:F265S	ENSP00000369774:F268S	F	+	2	0	ZNF763	11950533	0.967000	0.33354	0.005000	0.12908	0.052000	0.14988	4.485000	0.60279	0.614000	0.30107	0.164000	0.16699	TTC		0.398	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		30	45	0	0	0	1	0	30	45					C	12089533	T	C	12089533	3	2	435	1	0	0	0	0	1	0	0	0	18134	1783	62	4	817	4	ZNF763	19	12089533	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	147146	12089533	47039450	8045	28970											
ZNF763	284390	broad.mit.edu	37	chr19	12089672	12089672	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacactggggagaagccCtgtgaatgtagcaaatgtaa	14	8	11	8	0	1	2	1	1	0	1	1	3	1	2	1	2	2	3	1	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12089672C>A	ENST00000358987.3	+	4	1060	c.933C>A	c.(931-933)ccC>ccA	p.P311P	ZNF763_ENST00000538752.1_Silent_p.P331P|ZNF763_ENST00000545530.1_Silent_p.P189P|ZNF763_ENST00000590798.1_Silent_p.P331P|ZNF763_ENST00000343949.5_Silent_p.P314P			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						GGGAGAAGCCCTGTGAATGTA	0.403																																						ENST00000343949.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(940-942)ccC>ccA		zinc finger protein 763							60	64	62					19																	12089672		2197	4295	6492	SO:0001819	synonymous_variant	284390							g.chr19:12089672C>A	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"Zinc fingers, C2H2-type", "-"	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.933C>A	19.37:g.12089672C>A						ZNF763_ENST00000545530.1_Silent_p.P189P|ZNF763_ENST00000358987.3_Silent_p.P311P|ZNF763_ENST00000590798.1_Silent_p.P331P|ZNF763_ENST00000538752.1_Silent_p.P331P	p.P314P	NM_001012753.1	NP_001012771.1					4	1097	+								B3KRU3|B4DRE7	Silent	SNP	ENST00000358987.3	37	c.942C>A																																																																																					0.403	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		12	28	1	0	7.93312e-07	1	8.27737e-07	12	28					A	12089672	C	A	12089672	2	1	435	1	0	0	0	0	0	0	0	1	18134	668	24	5		5	ZNF763	19	12089672	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	139	12089672	47039311	8046	28971											
ZNF791	163049	broad.mit.edu	37	chr19	12738675	12738675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggaaaagccttcatgcGtctctcatcccttactagac	9	12	7	13	1	3	1	2	0	1	1	5	2	4	2	2	1	3	0	2	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12738675G>A	ENST00000343325.4	+	4	494	c.332G>A	c.(331-333)cGt>cAt	p.R111H	ZNF490_ENST00000465656.1_Intron|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000540038.1_Missense_Mutation_p.R2H|ZNF791_ENST00000458122.3_Missense_Mutation_p.R79H|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GCCTTCATGCGTCTCTCATCC	0.428																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(331-333)cGt>cAt		zinc finger protein 791							153	147	149					19																	12738675		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12738675G>A	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.332G>A	19.37:g.12738675G>A	ENSP00000342974:p.Arg111His					ZNF791_ENST00000458122.3_Missense_Mutation_p.R79H|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.R2H	p.R111H	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			4	494	+			111					B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.332G>A	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	G	0.780	-0.762569	0.02996	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.15718	3.42;3.42;2.4	1.55	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07052	0.0179	N	0.16307	0.4	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41662	-0.9496	9	0.06625	T	0.88	.	3.2766	0.06901	0.4716:0.0:0.5284:0.0	.	111	Q3KP31	ZN791_HUMAN	H	111;111;79;2	ENSP00000342974:R111H;ENSP00000441761:R79H;ENSP00000441038:R2H	ENSP00000342974:R111H	R	+	2	0	ZNF791	12599675	0.000000	0.05858	0.006000	0.13384	0.076000	0.17211	-0.884000	0.04166	0.842000	0.35045	0.491000	0.48974	CGT		0.428	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		50	93	0	0	0	1	0	50	93					A	12738675	G	A	12738675	3	1	435	1	0	0	0	0	1	0	0	0	18160	1145	40	1	346	1	ZNF791	19	12738675	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	649003	12738675	46390308	8047	28972											
MAN2B1	4125	broad.mit.edu	37	chr19	12772078	12772078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtaggcgcactgacctgcGcatttaccagccggatgagc	8	7	14	12	3	0	2	0	2	0	0	0	3	0	3	3	3	4	3	3	3	2	3	rs574049175		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12772078G>A	ENST00000456935.2	-	7	1062	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	MAN2B1_ENST00000495617.1_5'Flank|MAN2B1_ENST00000221363.4_Missense_Mutation_p.A341V	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	341			Missing (in MANSA). {ECO:0000269|PubMed:22161967}.		cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			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						ACTGACCTGCGCATTTACCAG	0.532													G|||	1	0.000199681	0	0.0014	5008	,	,		20854	0		0	False		,,,				2504	0					ENST00000456935.2																			0				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						c.(1021-1023)gCg>gTg		mannosidase, alpha, class 2B, member 1							220	172	188					19																	12772078		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12772078G>A		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1022C>T	19.37:g.12772078G>A	ENSP00000395473:p.Ala341Val					MAN2B1_ENST00000221363.4_Missense_Mutation_p.A341V	p.A341V	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			7	1062	-			341					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.1022C>T	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032247	0.54790	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.79653	-0.81;-1.29	5.51	0.694	0.18062	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.860335	0.09892	N	0.742231	T	0.70753	0.3260	M	0.81497	2.545	0.09310	N	1	P;P	0.44380	0.8;0.834	B;B	0.27715	0.082;0.067	T	0.61811	-0.6986	10	0.39692	T	0.17	-11.183	1.8366	0.03141	0.158:0.1377:0.4356:0.2686	.	341;341	G5E928;O00754	.;MA2B1_HUMAN	V	341;280;341	ENSP00000395473:A341V;ENSP00000221363:A341V	ENSP00000221363:A341V	A	-	2	0	MAN2B1	12633078	0.027000	0.19231	0.000000	0.03702	0.393000	0.30537	1.668000	0.37481	-0.014000	0.14175	0.561000	0.74099	GCG		0.532	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			25	27	0	0	0	1	0	25	27					A	12772078	G	A	12772078	3	1	435	1	0	0	0	0	1	0	0	0	9216	1087	38	1	2085	1	MAN2B1	19	12772078	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33403	12772078	46356905	8048	28973											
DHPS	1725	broad.mit.edu	37	chr19	12786735	12786735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggggaagaccagggaggCgtcagcatagacctgggtag	11	4	18	8	1	1	2	1	0	0	2	1	4	1	4	2	5	1	2	2	5	3	2	rs200920073		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12786735C>T	ENST00000210060.7	-	9	1162	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	DHPS_ENST00000594424.1_Missense_Mutation_p.A301T|DHPS_ENST00000351660.5_Missense_Mutation_p.A296T	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	343					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						ACCAGGGAGGCGTCAGCATAG	0.602											OREG0025272	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0	0	5008	,	,		17948	0		0.001	False		,,,				2504	0					ENST00000210060.7																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(1027-1029)Gcc>Acc		deoxyhypusine synthase	Sulfadoxine(DB01299)						49	46	47					19																	12786735		2203	4300	6503	SO:0001583	missense	1725				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	g.chr19:12786735C>T	U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"migration-inducing gene 13"	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.1027G>A	19.37:g.12786735C>T	ENSP00000210060:p.Ala343Thr		OREG0025272	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	682	DHPS_ENST00000594424.1_Missense_Mutation_p.A301T|DHPS_ENST00000351660.5_Missense_Mutation_p.A296T	p.A343T	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN			9	1162	-			343					A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Missense_Mutation	SNP	ENST00000210060.7	37	c.1027G>A	CCDS12276.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	22.8	4.337915	0.81911	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	T;T	0.59906	0.23;0.23	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.84270	0.5435	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.97;0.989	D	0.89336	0.3650	10	0.87932	D	0	-25.859	17.092	0.86624	0.0:1.0:0.0:0.0	.	296;343	P49366-2;P49366	.;DHYS_HUMAN	T	343;296	ENSP00000210060:A343T;ENSP00000221303:A296T	ENSP00000210060:A343T	A	-	1	0	DHPS	12647735	1.000000	0.71417	0.995000	0.50966	0.294000	0.27393	6.908000	0.75730	2.644000	0.89710	0.561000	0.74099	GCC		0.602	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1	NM_001930		8	19	0	0	0	1	0	8	19					T	12786735	C	T	12786735	3	4	435	1	0	0	0	0	1	0	0	0	4485	768	27	1	86	1	DHPS	19	12786735	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14657	12786735	46342248	8049	28974											
ASNA1	439	broad.mit.edu	37	chr19	12856477	12856477	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgacacggcacccacgggCcacaccctgaggctgctcaa	9	6	10	16	2	1	2	1	2	0	0	1	2	1	2	3	3	1	3	3	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12856477C>T	ENST00000591090.1	+	5	615	c.513C>T	c.(511-513)ggC>ggT	p.G171G	ASNA1_ENST00000357332.3_Silent_p.G171G					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)											endometrium(1)|lung(6)|ovary(3)	10						CACCCACGGGCCACACCCTGA	0.612																																						ENST00000591090.1																			0				endometrium(1)|lung(6)|ovary(3)	10						c.(511-513)ggC>ggT		arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	Adenosine triphosphate(DB00171)						60	62	62					19																	12856477		2203	4300	6503	SO:0001819	synonymous_variant	439				response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding	g.chr19:12856477C>T	U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"golgi to ER traffic 3 homolog (S. cerevisiae)", "transmembrane domain recognition complex, 40kDa"	601913	"arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.513C>T	19.37:g.12856477C>T						ASNA1_ENST00000357332.3_Silent_p.G171G	p.G171G			O43681	ASNA_HUMAN			5	615	+			171						Silent	SNP	ENST00000591090.1	37	c.513C>T	CCDS32920.1																																																																																				0.612	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450921.1	NM_004317		20	11	0	0	0	1	0	20	11					T	12856477	C	T	12856477	2	4	435	1	0	0	0	0	0	0	0	1	1047	726	26	3		3	ASNA1	19	12856477	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	69742	12856477	46272506	8050	28975											
HOOK2	29911	broad.mit.edu	37	chr19	12875650	12875650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgggccttgtccacgtagCggcggtatcgctcctccatg	4	10	13	14	5	0	0	0	0	0	0	4	0	3	0	4	3	2	3	4	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12875650C>T	ENST00000397668.3	-	20	1878	c.1805G>A	c.(1804-1806)cGc>cAc	p.R602H	HOOK2_ENST00000589965.1_5'Flank|HOOK2_ENST00000264827.5_Missense_Mutation_p.R600H	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	602	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GTCCACGTAGCGGCGGTATCG	0.607											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(1798-1800)cGc>cAc		hook microtubule-tethering protein 2							82	86	85					19																	12875650		2073	4205	6278	SO:0001583	missense	29911				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	g.chr19:12875650C>T	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1805G>A	19.37:g.12875650C>T	ENSP00000380785:p.Arg602His		OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	HOOK2_ENST00000397668.3_Missense_Mutation_p.R602H	p.R600H	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			19	1969	-			602			Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.1799G>A	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663963	0.67700	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.19532	2.14;2.14	5.39	4.32	0.51571	.	0.173721	0.49305	N	0.000148	T	0.40670	0.1126	M	0.61703	1.905	0.33179	D	0.549249	D;D	0.76494	0.999;0.999	D;D	0.67231	0.917;0.95	T	0.57063	-0.7875	10	0.66056	D	0.02	-5.6957	12.1547	0.54070	0.0:0.9096:0.0:0.0904	.	600;602	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	H	602;600	ENSP00000380785:R602H;ENSP00000264827:R600H	ENSP00000264827:R600H	R	-	2	0	HOOK2	12736650	1.000000	0.71417	0.999000	0.59377	0.665000	0.39181	2.180000	0.42537	1.192000	0.43071	-0.355000	0.07637	CGC		0.607	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		26	56	0	0	0	1	0	26	56					T	12875650	C	T	12875650	3	4	435	1	0	0	0	0	1	0	0	0	7283	768	27	1	370	1	HOOK2	19	12875650	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19173	12875650	46253333	8051	28976											
HOOK2	29911	broad.mit.edu	37	chr19	12883026	12883026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtcaaagttgccatacGtctctggtgacagggagtca	9	10	13	9	1	3	1	2	1	1	0	4	2	3	2	1	3	2	2	1	3	2	2	rs145148176	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12883026G>A	ENST00000397668.3	-	7	570	c.497C>T	c.(496-498)aCg>aTg	p.T166M	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Missense_Mutation_p.T166M	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	166	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GTTGCCATACGTCTCTGGTGA	0.507													g|||	16	0.00319489	0.0113	0	5008	,	,		20651	0		0	False		,,,				2504	0.001					ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(496-498)aCg>aTg		hook microtubule-tethering protein 2			MET/THR,MET/THR	25,4039		0,25,2007	154	151	152		497,497	0.4	0	19	dbSNP_134	152	1,8383		0,1,4191	yes	missense,missense	HOOK2	NM_001100176.1,NM_013312.2	81,81	0,26,6198	AA,AG,GG		0.0119,0.6152,0.2089	possibly-damaging,possibly-damaging	166/718,166/720	12883026	26,12422	2032	4192	6224	SO:0001583	missense	29911				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	g.chr19:12883026G>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.497C>T	19.37:g.12883026G>A	ENSP00000380785:p.Thr166Met					HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.T166M	p.T166M	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			7	667	-			166			Sufficient for interaction with microtubules.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.497C>T	CCDS42508.1	7	0.003205128205128205	6	0.012195121951219513	0	0.0	1	0.0017482517482517483	0	0.0	g	11.70	1.717704	0.30413	0.006152	1.19E-4	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.18338	2.22;2.22	4.24	0.424	0.16468	.	0.437579	0.21132	N	0.079621	T	0.08447	0.0210	L	0.45581	1.43	0.09310	N	1	P;P	0.36412	0.497;0.552	B;B	0.31390	0.05;0.129	T	0.13098	-1.0522	10	0.44086	T	0.13	-1.3604	7.401	0.26965	0.0:0.1569:0.5039:0.3391	.	166;166	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	M	166	ENSP00000380785:T166M;ENSP00000264827:T166M	ENSP00000264827:T166M	T	-	2	0	HOOK2	12744026	0.619000	0.27059	0.004000	0.12327	0.843000	0.47879	1.987000	0.40687	-0.030000	0.13804	0.552000	0.68991	ACG		0.507	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		27	38	0	0	0	1	0	27	38					A	12883026	G	A	12883026	3	1	435	1	0	0	0	0	1	0	0	0	7283	1145	40	1	1730	1	HOOK2	19	12883026	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7376	12883026	46245957	8052	28977											
MAST1	22983	broad.mit.edu	37	chr19	12975905	12975905	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaagctcacagatttcggCctctccaagatggggctcat	10	10	9	12	1	4	2	3	0	1	2	6	2	4	2	2	3	1	2	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12975905C>T	ENST00000251472.4	+	14	1590	c.1551C>T	c.(1549-1551)ggC>ggT	p.G517G		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CAGATTTCGGCCTCTCCAAGA	0.572																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(1549-1551)ggC>ggT		microtubule associated serine/threonine kinase 1							129	110	117					19																	12975905		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12975905C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1551C>T	19.37:g.12975905C>T							p.G517G	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			14	1590	+			517			Protein kinase.			Silent	SNP	ENST00000251472.4	37	c.1551C>T	CCDS32921.1																																																																																				0.572	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		19	31	0	0	0	1	0	19	31					T	12975905	C	T	12975905	2	4	435	1	0	0	0	0	0	0	0	1	9324	726	26	3		3	MAST1	19	12975905	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	92879	12975905	46153078	8053	28978											
MAST1	22983	broad.mit.edu	37	chr19	12979924	12979924	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctagtcccatgtctccaCgatctctgtcctccaaccca	7	12	5	17	1	2	0	0	0	2	0	7	1	5	0	5	0	2	1	5	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12979924C>T	ENST00000251472.4	+	22	2857	c.2818C>T	c.(2818-2820)Cga>Tga	p.R940*		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CATGTCTCCACGATCTCTGTC	0.567																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2818-2820)Cga>Tga		microtubule associated serine/threonine kinase 1							144	102	116					19																	12979924		2203	4300	6503	SO:0001587	stop_gained	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12979924C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2818C>T	19.37:g.12979924C>T	ENSP00000251472:p.Arg940*						p.R940*	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			22	2857	+			940						Nonsense_Mutation	SNP	ENST00000251472.4	37	c.2818C>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	42	9.243308	0.99111	.	.	ENSG00000105613	ENST00000251472	.	.	.	5.01	5.01	0.66863	.	0.145206	0.46758	D	0.000264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-7.1918	15.805	0.78491	0.0:1.0:0.0:0.0	.	.	.	.	X	940	.	ENSP00000251472:R940X	R	+	1	2	MAST1	12840924	0.989000	0.36119	0.999000	0.59377	0.972000	0.66771	3.958000	0.56737	2.327000	0.79052	0.462000	0.41574	CGA		0.567	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		13	32	0	0	0	1	0	13	32					T	12979924	C	T	12979924	4	4	435	1	0	0	0	0	0	1	0	0	9324	528	19	1	2904	1	MAST1	19	12979924	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4019	12979924	46149059	8054	28979											
MAST1	1777	broad.mit.edu	37	chr19	12985242	12985242	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacgagacaggccggcgcaGcagctctggcgaggcgggca	9	2	17	13	5	1	1	0	0	1	1	1	3	1	1	1	5	2	4	1	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12985242G>A	ENST00000222219.3	-	0	1955				AC020934.1_ENST00000578125.1_RNA|MAST1_ENST00000251472.4_Missense_Mutation_p.S1424N	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						GGCCGGCGCAGCAGCTCTGGC	0.706																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(4270-4272)aGc>aAc		microtubule associated serine/threonine kinase 1							15	19	18					19																	12985242		2165	4243	6408	SO:0001628	intergenic_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12985242G>A	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115			19.37:g.12985242G>A							p.S1424N	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			26	4310	+			1424					B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	c.4271G>A	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	g	13.48	2.249705	0.39797	.	.	ENSG00000105613	ENST00000251472	T	0.66638	-0.22	5.35	5.35	0.76521	.	0.423339	0.22301	N	0.061880	T	0.48624	0.1510	N	0.19112	0.55	0.32682	N	0.515352	P	0.37466	0.596	B	0.29176	0.099	T	0.61783	-0.6992	10	0.37606	T	0.19	-18.4067	14.5894	0.68354	0.0:0.0:1.0:0.0	.	1424	Q9Y2H9	MAST1_HUMAN	N	1424	ENSP00000251472:S1424N	ENSP00000251472:S1424N	S	+	2	0	MAST1	12846242	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.463000	0.53050	2.516000	0.84829	0.552000	0.68991	AGC		0.706	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			19	21	0	0	0	1	0	19	21					A	12985242	G	A	12985242	1	1	435	0	1	0	0	0	0	0	0	0	9324	971	34	3		3	MAST1	19	12985242	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5318	12985242	46143741	8055	28980											
KLF1	10661	broad.mit.edu	37	chr19	12996949	12996949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctgcgcctcttcggagCgccaccactgcgggagggag	5	7	15	14	4	1	0	0	0	1	0	3	3	2	3	4	3	3	0	4	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12996949C>T	ENST00000264834.4	-	2	135	c.95G>A	c.(94-96)cGc>cAc	p.R32H	CTD-2265O21.7_ENST00000592400.1_RNA	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	32	Pro-rich.				cellular response to peptide (GO:1901653)|chromatin remodeling (GO:0006338)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTTCGGAGCGCCACCACTG	0.687																																						ENST00000264834.4																			0				endometrium(3)|large_intestine(1)|skin(1)	5						c.(94-96)cGc>cAc		Kruppel-like factor 1 (erythroid)							13	12	12					19																	12996949		2197	4292	6489	SO:0001583	missense	10661				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:12996949C>T	U37106	CCDS12285.1	19p13.2	2014-07-18			ENSG00000105610	ENSG00000105610		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6345	protein-coding gene	gene with protein product	"erythroid Kruppel-like factor"	600599				8924208, 9119377	Standard	NM_006563		Approved	EKLF	uc002mvo.3	Q13351	OTTHUMG00000180536	ENST00000264834.4:c.95G>A	19.37:g.12996949C>T	ENSP00000264834:p.Arg32His						p.R32H	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)	2	135	-		Hepatocellular(1079;0.137)	32			Pro-rich.		Q6PIJ5|Q92899	Missense_Mutation	SNP	ENST00000264834.4	37	c.95G>A	CCDS12285.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283158	0.80803	.	.	ENSG00000105610	ENST00000264834	T	0.12039	2.72	4.3	0.831	0.18860	.	0.387744	0.18277	N	0.146137	T	0.08358	0.0208	N	0.24115	0.695	0.20074	N	0.999933	B	0.18610	0.029	B	0.08055	0.003	T	0.26780	-1.0093	10	0.72032	D	0.01	.	7.3895	0.26901	0.0:0.6647:0.0:0.3353	.	32	Q13351	KLF1_HUMAN	H	32	ENSP00000264834:R32H	ENSP00000264834:R32H	R	-	2	0	KLF1	12857949	0.014000	0.17966	0.610000	0.28997	0.956000	0.61745	0.165000	0.16564	0.464000	0.27142	-0.258000	0.10820	CGC		0.687	KLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451794.1	NM_006563		13	12	0	0	0	1	0	13	12					T	12996949	C	T	12996949	3	4	435	1	0	0	0	0	1	0	0	0	8337	768	27	1	1001	1	KLF1	19	12996949	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11707	12996949	46132034	8056	28981											
GCDH	2639	broad.mit.edu	37	chr19	13007110	13007110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgctggagaaggggatgCggggtctctcggcccccagg	5	7	17	12	2	1	1	0	0	1	1	4	3	2	2	3	7	2	1	3	7	1	0	rs549254182		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13007110C>T	ENST00000222214.5	+	8	938	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	GCDH_ENST00000457854.1_Missense_Mutation_p.R243W|GCDH_ENST00000591470.1_Missense_Mutation_p.R243W|GCDH_ENST00000422947.2_Missense_Mutation_p.R199W			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	243					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	GAAGGGGATGCGGGGTCTCTC	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		18113	0		0	False		,,,				2504	0				GBM(123;875 1636 7726 16444 26754)	ENST00000222214.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						c.(727-729)Cgg>Tgg		glutaryl-CoA dehydrogenase							68	68	68					19																	13007110		2203	4300	6503	SO:0001583	missense	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13007110C>T	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"glutaryl-Coenzyme A dehydrogenase"			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.727C>T	19.37:g.13007110C>T	ENSP00000222214:p.Arg243Trp					GCDH_ENST00000591470.1_Missense_Mutation_p.R243W|GCDH_ENST00000457854.1_Missense_Mutation_p.R243W|GCDH_ENST00000422947.2_Missense_Mutation_p.R199W	p.R243W			Q92947	GCDH_HUMAN			8	938	+			243					A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	c.727C>T	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092705	0.56075	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;D	0.98914	-5.23;-5.23;-5.23	5.35	4.25	0.50352	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.129840	0.51477	D	0.000082	D	0.97629	0.9223	L	0.38175	1.15	0.53688	D	0.99997	D;D;D;D;D	0.69078	0.997;0.989;0.977;0.97;0.987	P;P;P;B;B	0.56514	0.599;0.8;0.462;0.236;0.415	D	0.96848	0.9623	10	0.87932	D	0	.	10.7842	0.46395	0.298:0.7019:0.0:0.0	.	199;79;210;243;243	B4DK85;B4DUY0;B4DQF2;Q92947;Q92947-2	.;.;.;GCDH_HUMAN;.	W	243;243;210;199	ENSP00000394872:R243W;ENSP00000222214:R243W;ENSP00000394821:R199W	ENSP00000222214:R243W	R	+	1	2	GCDH	12868110	0.998000	0.40836	1.000000	0.80357	0.622000	0.37654	1.343000	0.33930	2.663000	0.90544	0.655000	0.94253	CGG		0.607	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			16	42	0	0	0	1	0	16	42					T	13007110	C	T	13007110	3	4	435	1	0	0	0	0	1	0	0	0	6287	759	27	1	753	1	GCDH	19	13007110	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10161	13007110	46121873	8057	28982											
GCDH	2639	broad.mit.edu	37	chr19	13008631	13008631	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatttctgacgagtatcaCgtgatccggcacgccatgaa	10	9	12	10	4	2	3	1	3	1	0	3	5	3	4	2	2	0	2	2	2	2	2	rs139344943	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13008631C>T	ENST00000222214.5	+	11	1408	c.1197C>T	c.(1195-1197)caC>caT	p.H399H	GCDH_ENST00000457854.1_Silent_p.H399H|GCDH_ENST00000591470.1_Silent_p.H399H|GCDH_ENST00000422947.2_Silent_p.H355H			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	399					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	ACGAGTATCACGTGATCCGGC	0.597													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		19160	0		0	False		,,,				2504	0				GBM(123;875 1636 7726 16444 26754)	ENST00000222214.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						c.(1195-1197)caC>caT		glutaryl-CoA dehydrogenase		C	,	16,4390	23.3+/-48.9	0,16,2187	54	57	56		1197,1197	-6.1	0.9	19	dbSNP_134	56	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GCDH	NM_000159.2,NM_013976.2	,	0,16,6487	TT,TC,CC		0.0,0.3631,0.123	,	399/439,399/429	13008631	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13008631C>T	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"glutaryl-Coenzyme A dehydrogenase"			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.1197C>T	19.37:g.13008631C>T						GCDH_ENST00000591470.1_Silent_p.H399H|GCDH_ENST00000457854.1_Silent_p.H399H|GCDH_ENST00000422947.2_Silent_p.H355H	p.H399H			Q92947	GCDH_HUMAN			11	1408	+			399					A8K2Z2|O14719	Silent	SNP	ENST00000222214.5	37	c.1197C>T	CCDS12286.1																																																																																				0.597	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			20	30	0	0	0	1	0	20	30					T	13008631	C	T	13008631	2	4	435	1	0	0	0	0	0	0	0	1	6287	535	19	1		1	GCDH	19	13008631	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1521	13008631	46120352	8058	28983											
GADD45GIP1	90480	broad.mit.edu	37	chr19	13065212	13065212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtagcccaggagctcctggGcctcagcctgcagtcgggcc	5	6	15	15	1	1	0	1	0	0	0	3	1	2	1	5	4	4	3	5	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13065212G>A	ENST00000316939.1	-	2	502	c.479C>T	c.(478-480)gCc>gTc	p.A160V		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	160					cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				ovary(2)|prostate(1)|skin(1)	4						GAGCTCCTGGGCCTCAGCCTG	0.622																																						ENST00000316939.1																			0				ovary(2)|prostate(1)|skin(1)	4						c.(478-480)gCc>gTc		growth arrest and DNA-damage-inducible, gamma interacting protein 1							65	67	66					19																	13065212		2203	4300	6503	SO:0001583	missense	90480				cell cycle|interspecies interaction between organisms	nucleus	protein binding	g.chr19:13065212G>A	AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"papillomavirus L2 interacting nuclear protein 1", "CKII beta binding protein 2", "CR6 interacting factor 1", "p53-responsive gene 6"	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.479C>T	19.37:g.13065212G>A	ENSP00000323065:p.Ala160Val						p.A160V	NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN			2	502	-			160					Q8IVM3|Q8TE51|Q969P9|Q9BSM6	Missense_Mutation	SNP	ENST00000316939.1	37	c.479C>T	CCDS12290.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708575	0.68615	.	.	ENSG00000179271	ENST00000316939	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.66056	0.2751	L	0.29908	0.895	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	T	0.65315	-0.6198	9	0.37606	T	0.19	-33.9051	17.1596	0.86800	0.0:0.0:1.0:0.0	.	160	Q8TAE8	G45IP_HUMAN	V	160	.	ENSP00000323065:A160V	A	-	2	0	GADD45GIP1	12926212	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	6.648000	0.74359	2.355000	0.79922	0.558000	0.71614	GCC		0.622	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452759.2	NM_052850		28	42	0	0	0	1	0	28	42					A	13065212	G	A	13065212	3	1	435	1	0	0	0	0	1	0	0	0	6184	1203	42	3	193	3	GADD45GIP1	19	13065212	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	56581	13065212	46063771	8059	28984											
LYL1	4066	broad.mit.edu	37	chr19	13211556	13211556	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggtcctgctggcccaatGtagacactgtaaggggtcgt	10	9	13	9	1	0	1	0	0	0	1	2	1	1	1	2	4	1	3	2	4	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13211556G>A	ENST00000264824.4	-	3	702	c.342C>T	c.(340-342)taC>taT	p.Y114Y		NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia associated hematopoiesis regulator 1	114					B cell differentiation (GO:0030183)|blood vessel maturation (GO:0001955)|definitive hemopoiesis (GO:0060216)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			CTGGCCCAATGTAGACACTGT	0.602			T	TRB@	T-ALL																																	ENST00000264824.4				Dom	yes		19	19p13.2-p13.1	4066	T	lymphoblastic leukemia derived sequence 1			L	TRB@		T-ALL		0				cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7						c.(340-342)taC>taT		lymphoblastic leukemia derived sequence 1							149	134	139					19																	13211556		2203	4300	6503	SO:0001819	synonymous_variant	4066				B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:13211556G>A		CCDS12292.1	19p13.2	2014-01-20	2014-01-20			ENSG00000104903		"Basic helix-loop-helix proteins"	6734	protein-coding gene	gene with protein product		151440	"lymphoblastic leukemia derived sequence 1"			2752424	Standard	NM_005583		Approved	bHLHa18	uc002mwi.3	P12980		ENST00000264824.4:c.342C>T	19.37:g.13211556G>A							p.Y114Y	NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)		3	702	-			114					O76102	Silent	SNP	ENST00000264824.4	37	c.342C>T	CCDS12292.1																																																																																				0.602	LYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452827.1	NM_005583		30	26	0	0	0	1	0	30	26					A	13211556	G	A	13211556	2	1	435	1	0	0	0	0	0	0	0	1	9106	1372	48	3		3	LYL1	19	13211556	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	146344	13211556	45917427	8060	28985											
NACC1	112939	broad.mit.edu	37	chr19	13246945	13246945	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacatgtacaccatgtacagCatgatgaacgtcggccagac	14	7	9	11	2	0	3	0	2	0	1	1	3	0	3	2	1	5	3	2	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13246945C>T	ENST00000292431.4	+	2	1050	c.924C>T	c.(922-924)agC>agT	p.S308S		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	308					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CCATGTACAGCATGATGAACG	0.617																																						ENST00000292431.4																			0				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						c.(922-924)agC>agT		nucleus accumbens associated 1, BEN and BTB (POZ) domain containing							142	124	130					19																	13246945		2203	4300	6503	SO:0001819	synonymous_variant	112939				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		g.chr19:13246945C>T	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"BEN domain containing", "BTB/POZ domain containing"	20967	protein-coding gene	gene with protein product	"nucleus accumbens associated 1", "BEN domain containing 8"	610672	"BTB (POZ) domain containing 14B"	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.924C>T	19.37:g.13246945C>T							p.S308S	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN			2	1050	+			308						Silent	SNP	ENST00000292431.4	37	c.924C>T	CCDS12294.1																																																																																				0.617	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		9	14	0	0	0	1	0	9	14					T	13246945	C	T	13246945	2	4	435	1	0	0	0	0	0	0	0	1	10135	709	25	3		3	NACC1	19	13246945	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	35389	13246945	45882038	8061	28986											
NACC1	112939	broad.mit.edu	37	chr19	13249036	13249036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccgacatgtgcaccaacgCccgccgcgtcgtgcgcaaga	8	4	13	16	7	0	1	0	0	0	1	1	2	0	1	4	1	3	2	4	1	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13249036C>T	ENST00000292431.4	+	6	1526	c.1400C>T	c.(1399-1401)gCc>gTc	p.A467V	CTC-250I14.3_ENST00000591825.1_RNA	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	467	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGCACCAACGCCCGCCGCGTC	0.612																																						ENST00000292431.4																			0				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						c.(1399-1401)gCc>gTc		nucleus accumbens associated 1, BEN and BTB (POZ) domain containing							158	139	145					19																	13249036		2203	4300	6503	SO:0001583	missense	112939				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		g.chr19:13249036C>T	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"BEN domain containing", "BTB/POZ domain containing"	20967	protein-coding gene	gene with protein product	"nucleus accumbens associated 1", "BEN domain containing 8"	610672	"BTB (POZ) domain containing 14B"	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.1400C>T	19.37:g.13249036C>T	ENSP00000292431:p.Ala467Val						p.A467V	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN			6	1526	+			467			BEN.			Missense_Mutation	SNP	ENST00000292431.4	37	c.1400C>T	CCDS12294.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962001	0.74016	.	.	ENSG00000160877	ENST00000292431	T	0.47528	0.84	4.7	4.7	0.59300	BEN domain (2);	0.058764	0.64402	D	0.000003	T	0.42154	0.1190	N	0.19112	0.55	0.49582	D	0.9998	P	0.36171	0.541	B	0.43508	0.422	T	0.50074	-0.8870	10	0.87932	D	0	.	15.1722	0.72884	0.0:1.0:0.0:0.0	.	467	Q96RE7	NACC1_HUMAN	V	467	ENSP00000292431:A467V	ENSP00000292431:A467V	A	+	2	0	NACC1	13110036	1.000000	0.71417	0.912000	0.35992	0.789000	0.44602	7.608000	0.82898	2.194000	0.70268	0.555000	0.69702	GCC		0.612	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		41	69	0	0	0	1	0	41	69					T	13249036	C	T	13249036	3	4	435	1	0	0	0	0	1	0	0	0	10135	739	26	3	1418	3	NACC1	19	13249036	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2091	13249036	45879947	8062	28987											
STX10	8677	broad.mit.edu	37	chr19	13256153	13256153	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagatgtggccgagactgcGctggcatccagcaggtcgct	7	7	15	12	4	0	2	0	0	0	2	2	4	1	2	2	3	2	4	2	3	0	0	rs367739042		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13256153G>A	ENST00000587230.1	-	5	484	c.420C>T	c.(418-420)agC>agT	p.S140S	STX10_ENST00000242770.5_Silent_p.S140S|STX10_ENST00000343587.5_Silent_p.S91S|STX10_ENST00000589083.1_Silent_p.S140S	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	140					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			CCGAGACTGCGCTGGCATCCA	0.622																																						ENST00000589083.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6						c.(418-420)agC>agT		syntaxin 10		G		1,4405	2.1+/-5.4	0,1,2202	52	47	49		420	-7.3	0	19		49	0,8600		0,0,4300	no	coding-synonymous	STX10	NM_003765.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		140/250	13256153	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8677				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity	g.chr19:13256153G>A	AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.420C>T	19.37:g.13256153G>A						STX10_ENST00000242770.5_Silent_p.S140S|STX10_ENST00000587230.1_Silent_p.S140S|STX10_ENST00000343587.5_Silent_p.S91S	p.S140S	NM_001271610.1	NP_001258539.1	O60499	STX10_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)		5	472	-			140					A6NC41|Q6IAP4|Q96AE8	Silent	SNP	ENST00000587230.1	37	c.420C>T	CCDS32922.1																																																																																				0.622	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452918.1	NM_003765		11	15	0	0	0	1	0	11	15					A	13256153	G	A	13256153	2	1	435	1	0	0	0	0	0	0	0	1	15335	1078	38	1		1	STX10	19	13256153	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7117	13256153	45872830	8063	28988											
CACNA1A	773	broad.mit.edu	37	chr19	13346502	13346502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagtttgatgagccgggCagctcggaagaggcggagaa	12	5	18	6	3	0	5	0	2	0	3	1	8	0	6	1	4	2	3	1	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13346502C>T	ENST00000360228.5	-	32	4992	c.4993G>A	c.(4993-4995)Gcc>Acc	p.A1665T	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1666T|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1666					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGAGCCGGGCAGCTCGGAAG	0.562											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(4993-4995)Gcc>Acc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						92	102	99					19																	13346502		1986	4166	6152	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13346502C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4993G>A	19.37:g.13346502C>T	ENSP00000353362:p.Ala1665Thr		OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	686	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1666T|CACNA1A_ENST00000574822.1_5'UTR	p.A1665T	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		32	4992	-			1666					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.4993G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.716127	0.68844	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98437	-4.93	4.96	4.96	0.65561	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98988	0.9655	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;0.984;1.0;1.0	D;P;D;D	0.91635	0.994;0.828;0.999;0.997	D	0.99797	1.1034	10	0.87932	D	0	.	17.3588	0.87344	0.0:1.0:0.0:0.0	.	1666;1671;1665;1666	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	T	1665;1671;1666;1666	ENSP00000353362:A1665T	ENSP00000317661:A1666T	A	-	1	0	CACNA1A	13207502	1.000000	0.71417	0.999000	0.59377	1.000000	0.99986	4.814000	0.62627	2.449000	0.82847	0.655000	0.94253	GCC		0.562	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		11	25	0	0	0	1	0	11	25					T	13346502	C	T	13346502	3	4	435	1	0	0	0	0	1	0	0	0	2538	710	25	3	2692	3	CACNA1A	19	13346502	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	90349	13346502	45782481	8064	28989											
CACNA1A	773	broad.mit.edu	37	chr19	13372388	13372388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgatgaggatgttgaagaCgtttttaagtgagttcacca	12	12	12	5	2	1	4	1	3	0	1	1	7	1	5	1	1	0	3	1	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13372388C>T	ENST00000360228.5	-	26	4125	c.4126G>A	c.(4126-4128)Gtc>Atc	p.V1376I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V1377I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1377					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGTTGAAGACGTTTTTAAGT	0.522																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(4126-4128)Gtc>Atc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						57	56	57					19																	13372388		2078	4204	6282	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13372388C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4126G>A	19.37:g.13372388C>T	ENSP00000353362:p.Val1376Ile					CACNA1A_ENST00000573710.2_Missense_Mutation_p.V1377I	p.V1376I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		26	4125	-			1377					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.4126G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094267	0.56075	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98060	-4.69	4.17	4.17	0.49024	Ion transport (1);	0.087480	0.46145	D	0.000318	D	0.96920	0.8994	N	0.17564	0.495	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77004	0.985;0.974;0.989	D	0.97476	1.0044	10	0.48119	T	0.1	.	15.2662	0.73663	0.0:1.0:0.0:0.0	.	1377;1380;1376	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	I	1376;1380;1377;1377	ENSP00000353362:V1376I	ENSP00000317661:V1377I	V	-	1	0	CACNA1A	13233388	1.000000	0.71417	0.995000	0.50966	0.524000	0.34500	7.757000	0.85209	1.884000	0.54569	0.561000	0.74099	GTC		0.522	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		3	8	0	0	0	1	0	3	8					T	13372388	C	T	13372388	3	4	435	1	0	0	0	0	1	0	0	0	2538	536	19	1	3584	1	CACNA1A	19	13372388	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25886	13372388	45756595	8065	28990											
CCDC130	81576	broad.mit.edu	37	chr19	13869945	13869945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagaagctggagacggaCgccatgttccggctggagca	11	5	15	10	3	0	2	0	0	0	2	1	5	1	4	2	4	3	5	2	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13869945C>T	ENST00000586600.1	+	9	935	c.432C>T	c.(430-432)gaC>gaT	p.D144D	CCDC130_ENST00000221554.8_Silent_p.D144D|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	144					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			TGGAGACGGACGCCATGTTCC	0.662																																						ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(430-432)gaC>gaT		coiled-coil domain containing 130							30	30	30					19																	13869945		2203	4298	6501	SO:0001819	synonymous_variant	81576				response to virus		protein binding	g.chr19:13869945C>T	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.432C>T	19.37:g.13869945C>T						CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Silent_p.D144D	p.D144D			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		9	935	+			144					Q9BQ72	Silent	SNP	ENST00000586600.1	37	c.432C>T	CCDS12296.1																																																																																				0.662	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		4	14	0	0	0	1	0	4	14					T	13869945	C	T	13869945	2	4	435	1	0	0	0	0	0	0	0	1	2766	535	19	1		1	CCDC130	19	13869945	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	497557	13869945	45259038	8066	28991											
CCDC130	81576	broad.mit.edu	37	chr19	13873818	13873818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctgacacccccgacaCgcggcacccctgcagtctcg	7	4	11	19	4	1	1	0	1	1	0	2	2	1	1	4	2	2	4	4	2	0	0	rs149179548		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13873818C>T	ENST00000586600.1	+	11	1630	c.1127C>T	c.(1126-1128)aCg>aTg	p.T376M	MRI1_ENST00000319545.8_5'Flank|CCDC130_ENST00000221554.8_Missense_Mutation_p.T376M|MRI1_ENST00000040663.6_5'Flank			P13994	CC130_HUMAN	coiled-coil domain containing 130	376					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			ACCCCCGACACGCGGCACCCC	0.682																																						ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(1126-1128)aCg>aTg		coiled-coil domain containing 130							14	17	16					19																	13873818		2193	4291	6484	SO:0001583	missense	81576				response to virus		protein binding	g.chr19:13873818C>T	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.1127C>T	19.37:g.13873818C>T	ENSP00000465776:p.Thr376Met					CCDC130_ENST00000221554.8_Missense_Mutation_p.T376M	p.T376M			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		11	1630	+			376					Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	c.1127C>T	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923346	0.33908	.	.	ENSG00000104957	ENST00000221554	T	0.32988	1.43	4.46	-0.135	0.13477	.	1.123250	0.07141	N	0.847246	T	0.21427	0.0516	L	0.44542	1.39	0.09310	N	0.999999	P;P	0.43412	0.806;0.806	B;B	0.31547	0.132;0.132	T	0.23619	-1.0183	10	0.62326	D	0.03	-4.0275	7.8023	0.29180	0.0:0.6207:0.0:0.3793	.	376;376	B3KUZ1;P13994	.;CC130_HUMAN	M	376	ENSP00000221554:T376M	ENSP00000221554:T376M	T	+	2	0	CCDC130	13734818	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.227000	0.09126	-0.004000	0.14419	0.491000	0.48974	ACG		0.682	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		13	11	0	0	0	1	0	13	11					T	13873818	C	T	13873818	3	4	435	1	0	0	0	0	1	0	0	0	2766	536	19	1	1161	1	CCDC130	19	13873818	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3873	13873818	45255165	8067	28992											
ZSWIM4	65249	broad.mit.edu	37	chr19	13910576	13910576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgagcccgtccagaagCgcatcgtgttttggtcgttt	5	13	12	11	4	0	2	0	1	0	1	3	2	1	2	3	1	3	3	3	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13910576C>T	ENST00000254323.2	+	2	385	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	CTD-3252C9.2_ENST00000591242.1_RNA	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	66							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CGTCCAGAAGCGCATCGTGTT	0.617																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(196-198)Cgc>Tgc		zinc finger, SWIM-type containing 4							132	119	124					19																	13910576		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13910576C>T	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.196C>T	19.37:g.13910576C>T	ENSP00000254323:p.Arg66Cys						p.R66C	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		2	385	+			66						Missense_Mutation	SNP	ENST00000254323.2	37	c.196C>T	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	c	19.93	3.917496	0.73098	.	.	ENSG00000132003	ENST00000254323	T	0.54675	0.56	4.41	4.41	0.53225	.	0.000000	0.52532	D	0.000066	T	0.76040	0.3932	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81933	-0.0706	10	0.87932	D	0	-22.7538	14.5085	0.67769	0.0:1.0:0.0:0.0	.	66	Q9H7M6	ZSWM4_HUMAN	C	66	ENSP00000254323:R66C	ENSP00000254323:R66C	R	+	1	0	ZSWIM4	13771576	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.331000	0.43894	1.995000	0.58328	0.555000	0.69702	CGC		0.617	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		28	55	0	0	0	1	0	28	55					T	13910576	C	T	13910576	3	4	435	1	0	0	0	0	1	0	0	0	18240	768	27	1	202	1	ZSWIM4	19	13910576	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	36758	13910576	45218407	8068	28993											
ZSWIM4	65249	broad.mit.edu	37	chr19	13923941	13923941	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcaactactccttcgaCggccccagcctgcagcccac	8	5	10	18	2	0	0	0	0	0	0	2	2	1	0	5	2	5	2	5	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13923941C>T	ENST00000254323.2	+	6	1332	c.1143C>T	c.(1141-1143)gaC>gaT	p.D381D	ZSWIM4_ENST00000440752.2_Silent_p.D98D|RN7SL619P_ENST00000581753.1_RNA	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	381							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ACTCCTTCGACGGCCCCAGCC	0.622																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1141-1143)gaC>gaT		zinc finger, SWIM-type containing 4							37	35	36					19																	13923941		2203	4300	6503	SO:0001819	synonymous_variant	65249						zinc ion binding	g.chr19:13923941C>T	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1143C>T	19.37:g.13923941C>T						ZSWIM4_ENST00000440752.2_Silent_p.D98D	p.D381D	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		6	1332	+			381						Silent	SNP	ENST00000254323.2	37	c.1143C>T	CCDS32924.1																																																																																				0.622	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		4	12	0	0	0	1	0	4	12					T	13923941	C	T	13923941	2	4	435	1	0	0	0	0	0	0	0	1	18240	535	19	1		1	ZSWIM4	19	13923941	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13365	13923941	45205042	8069	28994											
ZSWIM4	65249	broad.mit.edu	37	chr19	13936507	13936507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaccacgctgctgggcatcGcactggagctggggctgcag	7	6	15	13	2	0	0	0	0	0	0	1	1	0	1	1	4	3	7	1	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13936507G>A	ENST00000254323.2	+	11	2197	c.2008G>A	c.(2008-2010)Gca>Aca	p.A670T	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.A504T	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	670							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GCTGGGCATCGCACTGGAGCT	0.687																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2008-2010)Gca>Aca		zinc finger, SWIM-type containing 4							26	27	27					19																	13936507		2201	4298	6499	SO:0001583	missense	65249						zinc ion binding	g.chr19:13936507G>A	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2008G>A	19.37:g.13936507G>A	ENSP00000254323:p.Ala670Thr					ZSWIM4_ENST00000440752.2_Missense_Mutation_p.A504T	p.A670T	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		11	2197	+			670						Missense_Mutation	SNP	ENST00000254323.2	37	c.2008G>A	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250368	0.59212	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.59224	0.28;0.33	4.23	3.13	0.36017	.	0.270883	0.24456	N	0.038362	T	0.45617	0.1351	L	0.45352	1.415	0.29699	N	0.840307	P;B	0.43287	0.802;0.361	B;B	0.39185	0.288;0.293	T	0.52403	-0.8580	10	0.54805	T	0.06	-29.3388	8.6586	0.34079	0.0:0.0:0.6544:0.3456	.	504;670	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	T	670;504	ENSP00000254323:A670T;ENSP00000405278:A504T	ENSP00000254323:A670T	A	+	1	0	ZSWIM4	13797507	0.976000	0.34144	0.994000	0.49952	0.988000	0.76386	1.662000	0.37418	2.177000	0.69029	0.591000	0.81541	GCA		0.687	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		11	14	0	0	0	1	0	11	14					A	13936507	G	A	13936507	3	1	435	1	0	0	0	0	1	0	0	0	18240	1087	38	1	2050	1	ZSWIM4	19	13936507	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12566	13936507	45192476	8070	28995											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941491	13941491	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgagctctctgccatcgTccccctcatcattcgcagca	7	9	7	18	3	3	0	2	0	1	0	7	1	4	0	3	0	3	4	3	0	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13941491T>C	ENST00000254323.2	+	13	2786	c.2597T>C	c.(2596-2598)gTc>gCc	p.V866A	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.V700A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	866							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TCTGCCATCGTCCCCCTCATC	0.652																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2596-2598)gTc>gCc		zinc finger, SWIM-type containing 4							119	115	116					19																	13941491		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13941491T>C	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2597T>C	19.37:g.13941491T>C	ENSP00000254323:p.Val866Ala					ZSWIM4_ENST00000440752.2_Missense_Mutation_p.V700A	p.V866A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2786	+			866						Missense_Mutation	SNP	ENST00000254323.2	37	c.2597T>C	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299857	0.81136	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.51574	0.7;0.7	4.37	4.37	0.52481	.	0.000000	0.51477	D	0.000088	T	0.59376	0.2189	L	0.55481	1.735	0.43953	D	0.996629	D;P	0.64830	0.994;0.923	D;P	0.63283	0.913;0.774	T	0.62671	-0.6805	10	0.72032	D	0.01	-33.7111	11.5172	0.50529	0.0:0.0:0.0:1.0	.	700;866	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	A	866;700	ENSP00000254323:V866A;ENSP00000405278:V700A	ENSP00000254323:V866A	V	+	2	0	ZSWIM4	13802491	1.000000	0.71417	0.944000	0.38274	0.975000	0.68041	7.340000	0.79292	1.603000	0.50134	0.402000	0.26972	GTC		0.652	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		43	70	0	0	0	1	0	43	70					C	13941491	T	C	13941491	3	2	435	1	0	0	0	0	1	0	0	0	18240	1667	58	4	2647	4	ZSWIM4	19	13941491	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	4984	13941491	45187492	8071	28996											
CC2D1A	54862	broad.mit.edu	37	chr19	14030737	14030737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccaggatgaaggcccagaGgatgaagaggatgaggtgcc	14	4	16	7	0	0	5	0	3	0	2	0	8	0	8	3	5	2	0	3	5	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:14030737G>T	ENST00000318003.7	+	12	1570	c.1329G>T	c.(1327-1329)gaG>gaT	p.E443D	CC2D1A_ENST00000589606.1_Missense_Mutation_p.E443D	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	443					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			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)			AAGGCCCAGAGGATGAAGAGG	0.607																																						ENST00000318003.7																			0				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						c.(1327-1329)gaG>gaT		coiled-coil and C2 domain containing 1A							56	62	60					19																	14030737		1930	4144	6074	SO:0001583	missense	54862				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	g.chr19:14030737G>T	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1329G>T	19.37:g.14030737G>T	ENSP00000313601:p.Glu443Asp					CC2D1A_ENST00000589606.1_Missense_Mutation_p.E443D	p.E443D	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		12	1570	+			443					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.1329G>T	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	8.968	0.972302	0.18736	.	.	ENSG00000132024	ENST00000318003;ENST00000397486	T	0.34072	1.38	3.69	-1.15	0.09709	.	0.321844	0.30781	N	0.008885	T	0.11965	0.0291	N	0.08118	0	0.31596	N	0.653267	B;B;B	0.10296	0.0;0.001;0.003	B;B;B	0.09377	0.002;0.002;0.004	T	0.23190	-1.0195	10	0.09338	T	0.73	-24.7337	3.5906	0.07987	0.2808:0.0:0.4442:0.275	.	443;443;197	Q6P1N0-2;Q6P1N0;C9J1T8	.;C2D1A_HUMAN;.	D	443;197	ENSP00000313601:E443D	ENSP00000313601:E443D	E	+	3	2	CC2D1A	13891737	0.994000	0.37717	0.526000	0.27913	0.996000	0.88848	0.076000	0.14712	-0.104000	0.12154	0.561000	0.74099	GAG		0.607	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		10	13	1	0	7.48243e-07	1	7.8103e-07	10	13					T	14030737	G	T	14030737	3	4	435	1	0	0	0	0	1	0	0	0	2726	991	35	5	1375	5	CC2D1A	19	14030737	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	89246	14030737	45098246	8072	28997											
CC2D1A	54862	broad.mit.edu	37	chr19	14031458	14031458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccccaacagccaaagcgcCccccaaagccacatccacca	14	1	5	21	1	0	0	0	0	0	0	1	0	1	0	9	0	5	0	9	0	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:14031458C>T	ENST00000318003.7	+	13	1686	c.1445C>T	c.(1444-1446)cCc>cTc	p.P482L	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P482L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	482					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			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)			GCCAAAGCGCCCCCCAAAGCC	0.652																																						ENST00000318003.7																			0				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						c.(1444-1446)cCc>cTc		coiled-coil and C2 domain containing 1A							41	55	50					19																	14031458		1911	4119	6030	SO:0001583	missense	54862				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	g.chr19:14031458C>T	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1445C>T	19.37:g.14031458C>T	ENSP00000313601:p.Pro482Leu					CC2D1A_ENST00000589606.1_Missense_Mutation_p.P482L	p.P482L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		13	1686	+			482					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.1445C>T	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	C	8.070	0.770019	0.15983	.	.	ENSG00000132024	ENST00000318003;ENST00000397486	T	0.28666	1.6	5.4	3.29	0.37713	.	0.626342	0.17527	N	0.171028	T	0.21307	0.0513	L	0.32530	0.975	0.09310	N	1	B;B	0.19200	0.034;0.025	B;B	0.18561	0.022;0.008	T	0.18366	-1.0339	10	0.27785	T	0.31	-5.984	8.2169	0.31516	0.0:0.8168:0.0:0.1832	.	482;482	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	L	482;236	ENSP00000313601:P482L	ENSP00000313601:P482L	P	+	2	0	CC2D1A	13892458	0.412000	0.25392	0.967000	0.41034	0.187000	0.23431	0.850000	0.27737	0.665000	0.31066	0.555000	0.69702	CCC		0.652	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		4	4	0	0	0	1	0	4	4					T	14031458	C	T	14031458	3	4	435	1	0	0	0	0	1	0	0	0	2726	623	22	3	1495	3	CC2D1A	19	14031458	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	721	14031458	45097525	8073	28998											
CC2D1A	54862	broad.mit.edu	37	chr19	14037354	14037354	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccctgacctcagcagcaaCgacatgctcctcttcatcgt	8	11	6	16	2	3	1	2	1	1	0	6	2	5	1	3	0	4	3	3	0	1	2	rs368063676		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:14037354C>T	ENST00000318003.7	+	18	2206	c.1965C>T	c.(1963-1965)aaC>aaT	p.N655N	CC2D1A_ENST00000589606.1_Silent_p.N655N	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	655	C2.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			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)			TCAGCAGCAACGACATGCTCC	0.642																																						ENST00000318003.7																			0				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						c.(1963-1965)aaC>aaT		coiled-coil and C2 domain containing 1A		C		2,4166		0,2,2082	58	59	59		1965	-4.5	1	19		59	1,8429		0,1,4214	no	coding-synonymous	CC2D1A	NM_017721.4		0,3,6296	TT,TC,CC		0.0119,0.048,0.0238		655/952	14037354	3,12595	2084	4215	6299	SO:0001819	synonymous_variant	54862				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	g.chr19:14037354C>T	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1965C>T	19.37:g.14037354C>T						CC2D1A_ENST00000589606.1_Silent_p.N655N	p.N655N	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		18	2206	+			655			C2.		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Silent	SNP	ENST00000318003.7	37	c.1965C>T	CCDS42512.1																																																																																				0.642	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		8	23	0	0	0	1	0	8	23					T	14037354	C	T	14037354	2	4	435	1	0	0	0	0	0	0	0	1	2726	535	19	1		1	CC2D1A	19	14037354	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5896	14037354	45091629	8074	28999											
DCAF15	90379	broad.mit.edu	37	chr19	14070278	14070278	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtccggagaggggacGgagccggaggatggtgagcg	8	4	22	7	4	0	2	0	1	0	1	1	8	1	7	2	8	2	0	2	8	0	0	rs371077155		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:14070278G>A	ENST00000254337.6	+	7	1227	c.1206G>A	c.(1204-1206)acG>acA	p.T402T		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	402					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GAGAGGGGACGGAGCCGGAGG	0.697																																						ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(1204-1206)acG>acA		DDB1 and CUL4 associated factor 15		G		1,4393		0,1,2196	27	34	32		1206	-8.9	0.2	19		32	1,8569		0,1,4284	no	coding-synonymous	DCAF15	NM_138353.2		0,2,6480	AA,AG,GG		0.0117,0.0228,0.0154		402/601	14070278	2,12962	2197	4285	6482	SO:0001819	synonymous_variant	90379							g.chr19:14070278G>A	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"DDB1 and CUL4 associated factors"	25095	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 72"	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1206G>A	19.37:g.14070278G>A							p.T402T	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			7	1227	+			402					B3KS86|Q96DW0|Q9BU31	Silent	SNP	ENST00000254337.6	37	c.1206G>A	CCDS32926.1																																																																																				0.697	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		12	25	0	0	0	1	0	12	25					A	14070278	G	A	14070278	2	1	435	1	0	0	0	0	0	0	0	1	4267	1103	39	2		2	DCAF15	19	14070278	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32924	14070278	45058705	8075	29000											
DCAF15	90379	broad.mit.edu	37	chr19	14070696	14070696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagcgactatgacatcGtcattctggaggtgggccca	8	11	11	11	2	3	1	2	1	1	0	4	3	3	2	1	3	1	0	1	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:14070696G>A	ENST00000254337.6	+	9	1450	c.1429G>A	c.(1429-1431)Gtc>Atc	p.V477I		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	477					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CTATGACATCGTCATTCTGGA	0.597											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(1429-1431)Gtc>Atc		DDB1 and CUL4 associated factor 15							79	72	74					19																	14070696		2203	4300	6503	SO:0001583	missense	90379							g.chr19:14070696G>A	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"DDB1 and CUL4 associated factors"	25095	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 72"	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1429G>A	19.37:g.14070696G>A	ENSP00000254337:p.Val477Ile		OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692		p.V477I	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			9	1450	+			477					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.1429G>A	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	g	17.30	3.354366	0.61293	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000003	T	0.45115	0.1326	L	0.34521	1.04	0.58432	D	0.999999	D	0.56746	0.977	B	0.42495	0.389	T	0.53620	-0.8413	9	0.66056	D	0.02	-27.3987	16.174	0.81840	0.0:0.0:1.0:0.0	.	477	Q66K64	DCA15_HUMAN	I	477	.	ENSP00000254337:V477I	V	+	1	0	DCAF15	13931696	1.000000	0.71417	0.954000	0.39281	0.427000	0.31564	8.489000	0.90461	2.121000	0.65114	0.549000	0.68633	GTC		0.597	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		9	25	0	0	0	1	0	9	25					A	14070696	G	A	14070696	3	1	435	1	0	0	0	0	1	0	0	0	4267	1145	40	1	1463	1	DCAF15	19	14070696	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	418	14070696	45058287	8076	29001											
PRKACA	5566	broad.mit.edu	37	chr19	14208433	14208433	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaggtactcaggggtgccGcacaaggtccaagtgcggcc	8	5	15	13	2	1	0	1	0	0	0	2	0	2	0	4	5	3	2	4	5	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:14208433G>A	ENST00000308677.4	-	7	796	c.600C>T	c.(598-600)tgC>tgT	p.C200C	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Silent_p.C192C	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)	p.C200C(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CAGGGGTGCCGCACAAGGTCC	0.637																																						ENST00000308677.4																			1	Substitution - coding silent(1)	p.C200C(1)	large_intestine(1)	central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						c.(598-600)tgC>tgT		protein kinase, cAMP-dependent, catalytic, alpha							46	49	48					19																	14208433		2203	4300	6503	SO:0001819	synonymous_variant	5566				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:14208433G>A		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.600C>T	19.37:g.14208433G>A						PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.C192C|PRKACA_ENST00000350356.3_5'UTR	p.C200C	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN			7	796	-			200			Protein kinase.		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Silent	SNP	ENST00000308677.4	37	c.600C>T	CCDS12304.1																																																																																				0.637	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		8	18	0	0	0	1	0	8	18					A	14208433	G	A	14208433	2	1	435	1	0	0	0	0	0	0	0	1	12497	1079	38	1		1	PRKACA	19	14208433	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	137737	14208433	44920550	8077	29002											
LPHN1	22859	broad.mit.edu	37	chr19	14267883	14267883	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagcaggtagaggtgcacGccctccaggcacagccagga	11	4	14	12	1	0	1	0	0	0	1	1	2	1	2	3	4	3	5	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:14267883G>A	ENST00000340736.6	-	16	3132	c.2835C>T	c.(2833-2835)ggC>ggT	p.G945G	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G940G	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	945					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGAGGTGCACGCCCTCCAGGC	0.617																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2833-2835)ggC>ggT		latrophilin 1							50	50	50					19																	14267883		2203	4299	6502	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14267883G>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2835C>T	19.37:g.14267883G>A						CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G940G|CTB-55O6.12_ENST00000588387.1_RNA	p.G945G	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			16	3132	-			945					Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.2835C>T	CCDS32928.1																																																																																				0.617	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		5	10	0	0	0	1	0	5	10					A	14267883	G	A	14267883	2	1	435	1	0	0	0	0	0	0	0	1	8915	1074	38	1		1	LPHN1	19	14267883	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59450	14267883	44861100	8078	29003											
LPHN1	22859	broad.mit.edu	37	chr19	14270291	14270291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcgccctcctccaggaCgtcgaggagcatggtggccg	7	5	16	13	4	0	0	0	0	0	0	3	4	2	2	4	5	1	1	4	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:14270291C>T	ENST00000340736.6	-	11	2257	c.1960G>A	c.(1960-1962)Gtc>Atc	p.V654I	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.V649I	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	654					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCTCCAGGACGTCGAGGAGC	0.637																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1960-1962)Gtc>Atc		latrophilin 1							44	41	42					19																	14270291		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14270291C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.1960G>A	19.37:g.14270291C>T	ENSP00000340688:p.Val654Ile					CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.V649I|CTB-55O6.12_ENST00000588387.1_RNA	p.V654I	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			11	2257	-			654					Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.1960G>A	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864472	0.51482	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.09723	2.95;2.95	5.13	2.79	0.32731	Domain of unknown function DUF3497 (1);	0.222720	0.37219	N	0.002184	T	0.04907	0.0132	N	0.12182	0.205	0.32411	N	0.550671	B;B	0.15930	0.001;0.015	B;B	0.10450	0.005;0.005	T	0.11036	-1.0604	10	0.36615	T	0.2	.	3.045	0.06151	0.0:0.5036:0.2684:0.228	.	649;654	O94910-2;O94910	.;LPHN1_HUMAN	I	654;649	ENSP00000340688:V654I;ENSP00000355328:V649I	ENSP00000340688:V654I	V	-	1	0	LPHN1	14131291	0.219000	0.23619	0.838000	0.33150	0.982000	0.71751	1.893000	0.39758	1.123000	0.41961	0.561000	0.74099	GTC		0.637	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		8	16	0	0	0	1	0	8	16					T	14270291	C	T	14270291	3	4	435	1	0	0	0	0	1	0	0	0	8915	536	19	1	2520	1	LPHN1	19	14270291	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2408	14270291	44858692	8079	29004											
PKN1	5585	broad.mit.edu	37	chr19	14574936	14574936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacctcagaagagctcgCgggatcctccttccagccca	8	7	9	17	2	2	2	2	0	0	2	6	3	5	3	5	1	2	2	5	1	1	1	rs202016982		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:14574936C>T	ENST00000242783.6	+	12	1867	c.1702C>T	c.(1702-1704)Cgg>Tgg	p.R568W	PKN1_ENST00000342216.4_Missense_Mutation_p.R574W	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	568					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GAAGAGCTCGCGGGATCCTCC	0.637																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1702-1704)Cgg>Tgg		protein kinase N1							64	67	66					19																	14574936		2005	4184	6189	SO:0001583	missense	5585				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	g.chr19:14574936C>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1702C>T	19.37:g.14574936C>T	ENSP00000242783:p.Arg568Trp					PKN1_ENST00000342216.4_Missense_Mutation_p.R574W	p.R568W	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			12	1867	+			568					A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.1702C>T	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860407	0.32884	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.29142	1.58;1.58	4.4	0.998	0.19857	.	1.178910	0.06375	U	0.714289	T	0.17109	0.0411	L	0.27053	0.805	0.09310	N	1	P;P	0.51653	0.947;0.912	B;B	0.33042	0.157;0.075	T	0.21965	-1.0230	10	0.66056	D	0.02	-9.7482	5.64	0.17559	0.0:0.6786:0.1737:0.1477	.	574;568	Q16512-2;Q16512	.;PKN1_HUMAN	W	568;574	ENSP00000242783:R568W;ENSP00000343325:R574W	ENSP00000242783:R568W	R	+	1	2	PKN1	14435936	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.198000	0.09505	0.124000	0.18369	0.484000	0.47621	CGG		0.637	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		14	31	0	0	0	1	0	14	31					T	14574936	C	T	14574936	3	4	435	1	0	0	0	0	1	0	0	0	11979	759	27	1	1791	1	PKN1	19	14574936	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	304645	14574936	44554047	8080	29005											
SYDE1	85360	broad.mit.edu	37	chr19	15222568	15222568	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaccactgagggcaccCgagggctcctcagctgcctg	6	5	11	19	1	1	1	1	1	0	0	2	2	2	1	6	2	2	3	6	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:15222568C>T	ENST00000342784.2	+	6	1574	c.1543C>T	c.(1543-1545)Cga>Tga	p.R515*	SYDE1_ENST00000600440.1_Nonsense_Mutation_p.R448*|SYDE1_ENST00000600252.1_Nonsense_Mutation_p.R172*	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	515	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						TGAGGGCACCCGAGGGCTCCT	0.607																																						ENST00000600252.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(514-516)Cga>Tga		synapse defective 1, Rho GTPase, homolog 1 (C. elegans)							29	31	30					19																	15222568		2203	4300	6503	SO:0001587	stop_gained	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15222568C>T	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1543C>T	19.37:g.15222568C>T	ENSP00000341489:p.Arg515*					SYDE1_ENST00000600440.1_Nonsense_Mutation_p.R448*|SYDE1_ENST00000342784.2_Nonsense_Mutation_p.R515*	p.R172*			Q6ZW31	SYDE1_HUMAN			3	2156	+			515					Q7L2I8|Q8N6J2|Q9H8K4	Nonsense_Mutation	SNP	ENST00000342784.2	37	c.514C>T	CCDS12324.1	.	.	.	.	.	.	.	.	.	.	C	38	6.641781	0.97726	.	.	ENSG00000105137	ENST00000342784	.	.	.	5.44	1.82	0.25136	.	0.168210	0.40554	N	0.001072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	8.2568	0.31760	0.3973:0.4876:0.1151:0.0	.	.	.	.	X	515	.	ENSP00000341489:R515X	R	+	1	2	SYDE1	15083568	0.001000	0.12720	1.000000	0.80357	0.910000	0.53928	-0.546000	0.06062	0.573000	0.29400	0.655000	0.94253	CGA		0.607	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		7	12	0	0	0	1	0	7	12					T	15222568	C	T	15222568	4	4	435	1	0	0	0	0	0	1	0	0	15432	644	23	2	1565	2	SYDE1	19	15222568	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	647632	15222568	43906415	8081	29006											
ILVBL	10994	broad.mit.edu	37	chr19	15234345	15234345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatgggccctcagcacagCggccacgttctctccgccat	7	7	9	18	3	2	0	1	0	1	0	4	0	3	0	5	2	2	2	5	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:15234345C>T	ENST00000263383.3	-	3	317	c.178G>A	c.(178-180)Gct>Act	p.A60T	ILVBL_ENST00000534378.1_5'UTR|AC003956.1_ENST00000598450.1_RNA|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	60						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CTCAGCACAGCGGCCACGTTC	0.627																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(178-180)Gct>Act		ilvB (bacterial acetolactate synthase)-like							96	81	86					19																	15234345		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15234345C>T	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.178G>A	19.37:g.15234345C>T	ENSP00000263383:p.Ala60Thr					ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_5'UTR	p.A60T	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			3	317	-			60					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.178G>A	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	C	7.363	0.625214	0.14257	.	.	ENSG00000105135	ENST00000263383;ENST00000269733;ENST00000527093;ENST00000533747	T	0.31247	1.5	4.19	1.9	0.25705	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.311169	0.33834	N	0.004519	T	0.28566	0.0707	L	0.53617	1.68	0.21445	N	0.999684	P	0.43607	0.812	P	0.46659	0.523	T	0.06127	-1.0844	10	0.33141	T	0.24	-12.8207	3.9505	0.09368	0.1871:0.6048:0.0:0.2081	.	60	A1L0T0	ILVBL_HUMAN	T	60	ENSP00000263383:A60T	ENSP00000263383:A60T	A	-	1	0	ILVBL	15095345	0.857000	0.29778	0.618000	0.29105	0.027000	0.11550	2.387000	0.44389	0.756000	0.33013	-0.448000	0.05591	GCT		0.627	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		8	28	0	0	0	1	0	8	28					T	15234345	C	T	15234345	3	4	435	1	0	0	0	0	1	0	0	0	7715	768	27	1	1776	1	ILVBL	19	15234345	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11777	15234345	43894638	8082	29007											
NOTCH3	4854	broad.mit.edu	37	chr19	15271812	15271812	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggactgccaggtaaggCgggggccgctcctgcgggga	5	5	19	12	3	0	0	0	0	0	0	1	2	1	2	4	7	2	2	4	7	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:15271812C>T	ENST00000263388.2	-	33	6702	c.6627G>A	c.(6625-6627)ccG>ccA	p.P2209P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2209					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			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)			CCAGGTAAGGCGGGGGCCGCT	0.731																																						ENST00000263388.2																			0				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						c.(6625-6627)ccG>ccA		notch 3							3	5	4					19																	15271812		1937	3917	5854	SO:0001819	synonymous_variant	4854				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	g.chr19:15271812C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6627G>A	19.37:g.15271812C>T							p.P2209P	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		33	6702	-			2209					Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.6627G>A	CCDS12326.1																																																																																				0.731	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		4	2	0	0	0	1	0	4	2					T	15271812	C	T	15271812	2	4	435	1	0	0	0	0	0	0	0	1	10550	755	27	1		1	NOTCH3	19	15271812	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	37467	15271812	43857171	8083	29008											
EPHX3	79852	broad.mit.edu	37	chr19	15342604	15342604	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagttctcagggaagccGtgcagaaacagcatgagggg	12	6	14	9	1	1	2	1	1	1	1	2	3	1	3	2	3	5	3	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:15342604G>A	ENST00000221730.3	-	2	532	c.312C>T	c.(310-312)caC>caT	p.H104H	EPHX3_ENST00000435261.1_Silent_p.H104H|EPHX3_ENST00000602233.1_Silent_p.H104H	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	104						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CAGGGAAGCCGTGCAGAAACA	0.667																																						ENST00000221730.3																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						c.(310-312)caC>caT		epoxide hydrolase 3							66	69	68					19																	15342604		2203	4300	6503	SO:0001819	synonymous_variant	79852					extracellular region	hydrolase activity	g.chr19:15342604G>A	AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"Abhydrolase domain containing"	23760	protein-coding gene	gene with protein product			"abhydrolase domain containing 9"	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.312C>T	19.37:g.15342604G>A						EPHX3_ENST00000435261.1_Silent_p.H104H|EPHX3_ENST00000602233.1_Silent_p.H104H	p.H104H	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN			2	532	-			104					A3KMR3	Silent	SNP	ENST00000221730.3	37	c.312C>T	CCDS12327.1																																																																																				0.667	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1	NM_024794		11	22	0	0	0	1	0	11	22					A	15342604	G	A	15342604	2	1	435	1	0	0	0	0	0	0	0	1	5181	1136	40	1		1	EPHX3	19	15342604	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	70792	15342604	43786379	8084	29009											
AKAP8L	26993	broad.mit.edu	37	chr19	15512317	15512317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttggccctcataggccatttCcatctcagggtcaagctcgc	7	11	9	14	1	3	0	3	0	1	0	6	0	4	0	3	3	1	1	3	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:15512317C>T	ENST00000397410.5	-	5	590	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	AKAP8L_ENST00000595465.2_Missense_Mutation_p.E93K|AKAP8L_ENST00000595879.1_5'Flank	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	154						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TAGGCCATTTCCATCTCAGGG	0.612																																						ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(460-462)Gaa>Aaa		A kinase (PRKA) anchor protein 8-like							55	56	56					19																	15512317		2134	4231	6365	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15512317C>T	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.460G>A	19.37:g.15512317C>T	ENSP00000380557:p.Glu154Lys					AKAP8L_ENST00000595136.1_Intron|AKAP8L_ENST00000595465.1_Missense_Mutation_p.E93K	p.E154K	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			5	524	-			154					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.460G>A	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429086	0.62844	.	.	ENSG00000011243	ENST00000397410	T	0.46451	0.87	4.72	4.72	0.59763	.	0.074409	0.53938	D	0.000050	T	0.45397	0.1340	L	0.34521	1.04	0.31191	N	0.700879	P;D;P	0.55605	0.948;0.972;0.948	B;P;B	0.53912	0.431;0.737;0.354	T	0.51434	-0.8706	10	0.46703	T	0.11	-14.2724	14.5905	0.68362	0.0:1.0:0.0:0.0	.	93;154;154	B4DJ74;B3KMD4;Q9ULX6	.;.;AKP8L_HUMAN	K	154	ENSP00000380557:E154K	ENSP00000380557:E154K	E	-	1	0	AKAP8L	15373317	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.005000	0.57075	2.166000	0.68216	0.655000	0.94253	GAA		0.612	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		10	18	0	0	0	1	0	10	18					T	15512317	C	T	15512317	3	4	435	1	0	0	0	0	1	0	0	0	458	864	30	3	1520	3	AKAP8L	19	15512317	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	169713	15512317	43616666	8085	29010											
CYP4F22	126410	broad.mit.edu	37	chr19	15640580	15640580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactggacaacatgcaccatGtactcttggtatggatggga	11	11	11	8	0	1	0	0	0	1	0	1	3	1	3	1	4	4	3	1	4	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:15640580G>A	ENST00000269703.3	+	4	482	c.283G>A	c.(283-285)Gta>Ata	p.V95I	CYP4F22_ENST00000601005.2_Missense_Mutation_p.V95I	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	95						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CATGCACCATGTACTCTTGGT	0.547																																						ENST00000269703.2																			0				endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(283-285)Gta>Ata		cytochrome P450, family 4, subfamily F, polypeptide 22							196	143	161					19																	15640580		2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15640580G>A		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"Cytochrome P450s"	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.283G>A	19.37:g.15640580G>A	ENSP00000269703:p.Val95Ile					CYP4F22_ENST00000601005.2_Missense_Mutation_p.V95I	p.V95I	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN			4	482	+			95					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.283G>A	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	9.024	0.985699	0.18889	.	.	ENSG00000171954	ENST00000269703	D	0.88046	-2.33	5.23	3.07	0.35406	.	0.677726	0.15008	N	0.285756	T	0.67154	0.2863	N	0.02120	-0.675	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.53063	-0.8491	10	0.16896	T	0.51	.	9.5252	0.39160	0.2611:0.0:0.7389:0.0	.	95	Q6NT55	CP4FN_HUMAN	I	95	ENSP00000269703:V95I	ENSP00000269703:V95I	V	+	1	0	CYP4F22	15501580	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.615000	0.24329	0.201000	0.20466	-1.598000	0.00824	GTA		0.547	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		19	29	0	0	0	1	0	19	29					A	15640580	G	A	15640580	3	1	435	1	0	0	0	0	1	0	0	0	4189	1377	48	3	289	3	CYP4F22	19	15640580	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	128263	15640580	43488403	8086	29011											
CYP4F22	126410	broad.mit.edu	37	chr19	15662225	15662225	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcggaagccggagctcatActgcgcacggagaacgggct	9	4	16	12	6	1	1	1	0	0	1	1	4	1	3	1	5	5	3	1	5	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:15662225A>T	ENST00000269703.3	+	14	1738	c.1539A>T	c.(1537-1539)atA>atT	p.I513I	CYP4F22_ENST00000601005.2_Silent_p.I513I	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	513						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGGAGCTCATACTGCGCACGG	0.706																																						ENST00000269703.2																			0				endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(1537-1539)atA>atT		cytochrome P450, family 4, subfamily F, polypeptide 22							33	26	28					19																	15662225		2203	4297	6500	SO:0001819	synonymous_variant	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15662225A>T		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"Cytochrome P450s"	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.1539A>T	19.37:g.15662225A>T						CYP4F22_ENST00000601005.2_Silent_p.I513I	p.I513I	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN			14	1738	+			513					Q8N8H4	Silent	SNP	ENST00000269703.3	37	c.1539A>T	CCDS12331.1																																																																																				0.706	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		5	9	0	0	0	1	0	5	9					T	15662225	A	T	15662225	2	4	435	1	0	0	0	0	0	0	0	1	4189	381	14	5		5	CYP4F22	19	15662225	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	21645	15662225	43466758	8087	29012											
CYP4F8	11283	broad.mit.edu	37	chr19	15739226	15739226	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacgtggtgctcccagaCagccgagtcatccccaaagg	10	5	12	14	2	1	1	1	0	0	1	3	3	3	2	4	3	2	1	4	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:15739226C>T	ENST00000441682.2	+	0	1291							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TGCTCCCAGACAGCCGAGTCA	0.642																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							63	73	70					19																	15739226		2197	4299	6496			11283				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	g.chr19:15739226C>T	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"Cytochrome P450s"	2648	protein-coding gene	gene with protein product		611545	"cytochrome P450, subfamily IVF, polypeptide 8"			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15739226C>T										P98187	CP4F8_HUMAN			0	1291	+									RNA	SNP	ENST00000441682.2	37																																																																																						0.642	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		11	51	0	0	0	1	0	11	51					T	15739226	C	T	15739226	1	4	435	0	1	0	0	0	0	0	0	0	4191	477	17	3		3	CYP4F8	19	15739226	RNA	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	77001	15739226	43389757	8088	29013											
CYP4F3	4051	broad.mit.edu	37	chr19	15760047	15760047	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagcctcatgaccttggaCagtctgcagaaatgtgtctt	10	12	9	10	0	4	2	2	1	2	1	4	3	4	3	2	1	2	1	2	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:15760047C>T	ENST00000221307.8	+	6	650	c.603C>T	c.(601-603)gaC>gaT	p.D201D	CYP4F3_ENST00000586182.2_Silent_p.D201D|CYP4F3_ENST00000591058.1_Silent_p.D201D|CYP4F3_ENST00000585846.1_Silent_p.D201D	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	201					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGACCTTGGACAGTCTGCAGA	0.562																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(601-603)gaC>gaT		cytochrome P450, family 4, subfamily F, polypeptide 3							123	107	112					19																	15760047		2203	4300	6503	SO:0001819	synonymous_variant	4051				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	g.chr19:15760047C>T	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.603C>T	19.37:g.15760047C>T						CYP4F3_ENST00000585846.1_Silent_p.D201D|CYP4F3_ENST00000591058.1_Silent_p.D201D|CYP4F3_ENST00000586182.1_Silent_p.D201D	p.D201D	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			6	651	+			201					B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	c.603C>T	CCDS12332.1																																																																																				0.562	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		33	46	0	0	0	1	0	33	46					T	15760047	C	T	15760047	2	4	435	1	0	0	0	0	0	0	0	1	4190	477	17	3		3	CYP4F3	19	15760047	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20821	15760047	43368936	8089	29014											
CYP4F11	57834	broad.mit.edu	37	chr19	16024574	16024574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcacccaggggctccacccGcagccaaagtccaccctctg	8	4	9	20	2	1	0	0	0	1	0	3	0	3	0	6	2	1	3	6	2	1	0	rs148679944		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16024574G>A	ENST00000402119.4	-	12	1969	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W	CYP4F11_ENST00000326742.8_3'UTR|CYP4F11_ENST00000248041.8_Missense_Mutation_p.R515W|CYP4F11_ENST00000591841.1_Missense_Mutation_p.R190W	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGCTCCACCCGCAGCCAAAGT	0.607																																						ENST00000402119.3																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(1543-1545)Cgg>Tgg		cytochrome P450, family 4, subfamily F, polypeptide 11		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	58	53	55		1543,1543	-1.3	1	19	dbSNP_134	55	0,8600		0,0,4300	no	missense,missense	CYP4F11	NM_001128932.1,NM_021187.3	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	515/525,515/525	16024574	1,13005	2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16024574G>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1543C>T	19.37:g.16024574G>A	ENSP00000384588:p.Arg515Trp					CYP4F11_ENST00000248041.7_Missense_Mutation_p.R515W|CYP4F11_ENST00000326742.7_3'UTR	p.R515W	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN			12	1969	-			515						Missense_Mutation	SNP	ENST00000402119.4	37	c.1543C>T	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	g	6.172	0.400001	0.11696	2.27E-4	0.0	ENSG00000171903	ENST00000402119;ENST00000248041	T;T	0.80653	-1.4;-1.4	2.74	-1.29	0.09288	.	0.293900	0.27554	U	0.018856	T	0.73938	0.3651	M	0.78049	2.395	0.29376	N	0.863682	B	0.23128	0.08	B	0.24269	0.052	T	0.66131	-0.6000	10	0.59425	D	0.04	.	3.3171	0.07036	0.1416:0.0:0.4111:0.4473	.	515	Q9HBI6	CP4FB_HUMAN	W	515	ENSP00000384588:R515W;ENSP00000248041:R515W	ENSP00000248041:R515W	R	-	1	2	CYP4F11	15885574	0.997000	0.39634	0.998000	0.56505	0.022000	0.10575	1.559000	0.36320	0.050000	0.15949	-1.721000	0.00707	CGG		0.607	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		3	10	0	0	0	1	0	3	10					A	16024574	G	A	16024574	3	1	435	1	0	0	0	0	1	0	0	0	4186	1086	38	1	35	1	CYP4F11	19	16024574	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	264527	16024574	43104409	8090	29015											
AP1M1	8907	broad.mit.edu	37	chr19	16338437	16338437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcacgcttcgagaatgaccGcaccatctccttcatcccac	10	9	5	17	3	3	2	2	1	1	1	6	3	4	2	4	0	0	2	4	0	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16338437G>A	ENST00000291439.3	+	7	1201	c.752G>A	c.(751-753)cGc>cAc	p.R251H	AP1M1_ENST00000541844.1_Missense_Mutation_p.R179H|AP1M1_ENST00000590756.1_Missense_Mutation_p.R179H|AP1M1_ENST00000429941.2_Missense_Mutation_p.R251H|AP1M1_ENST00000444449.2_Missense_Mutation_p.R263H	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	251	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GAGAATGACCGCACCATCTCC	0.612																																						ENST00000291439.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						c.(751-753)cGc>cAc		adaptor-related protein complex 1, mu 1 subunit							280	229	246					19																	16338437		2203	4300	6503	SO:0001583	missense	8907				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	g.chr19:16338437G>A		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.752G>A	19.37:g.16338437G>A	ENSP00000291439:p.Arg251His					AP1M1_ENST00000590756.1_Missense_Mutation_p.R179H|AP1M1_ENST00000444449.2_Missense_Mutation_p.R263H|AP1M1_ENST00000541844.1_Missense_Mutation_p.R179H|AP1M1_ENST00000429941.2_Missense_Mutation_p.R251H	p.R251H	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN			7	1201	+			251			MHD.		Q4TTY5	Missense_Mutation	SNP	ENST00000291439.3	37	c.752G>A	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	G	32	5.176372	0.94846	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.26	4.26	0.50523	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	M	0.86097	2.795	0.80722	D	1	P;P;P	0.45569	0.861;0.696;0.696	P;B;B	0.44696	0.458;0.344;0.344	T	0.53975	-0.8362	10	0.59425	D	0.04	-33.0111	15.848	0.78905	0.0:0.0:1.0:0.0	.	251;263;251	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	H	263;251;179;251	ENSP00000388996:R263H;ENSP00000291439:R251H;ENSP00000445682:R179H;ENSP00000411498:R251H	ENSP00000291439:R251H	R	+	2	0	AP1M1	16199437	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.356000	0.97091	2.208000	0.71279	0.561000	0.74099	CGC		0.612	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		56	65	0	0	0	1	0	56	65					A	16338437	G	A	16338437	3	1	435	1	0	0	0	0	1	0	0	0	734	1087	38	1	818	1	AP1M1	19	16338437	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	313863	16338437	42790546	8091	29016											
AP1M1	8907	broad.mit.edu	37	chr19	16345076	16345076	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtgcgttatatcacgCagaatggaggtgagtgaggc	9	9	16	7	2	1	3	1	2	0	1	1	4	1	4	1	4	1	2	1	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16345076C>T	ENST00000291439.3	+	11	1689	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	AP1M1_ENST00000541844.1_Nonsense_Mutation_p.Q342*|AP1M1_ENST00000590756.1_Nonsense_Mutation_p.Q342*|AP1M1_ENST00000429941.2_Nonsense_Mutation_p.Q361*|AP1M1_ENST00000444449.2_Nonsense_Mutation_p.Q426*	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	414	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TTATATCACGCAGAATGGAGG	0.637																																						ENST00000291439.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						c.(1240-1242)Cag>Tag		adaptor-related protein complex 1, mu 1 subunit							69	58	62					19																	16345076		2203	4300	6503	SO:0001587	stop_gained	8907				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	g.chr19:16345076C>T		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.1240C>T	19.37:g.16345076C>T	ENSP00000291439:p.Gln414*					AP1M1_ENST00000590756.1_Nonsense_Mutation_p.Q342*|AP1M1_ENST00000444449.2_Nonsense_Mutation_p.Q426*|AP1M1_ENST00000541844.1_Nonsense_Mutation_p.Q342*|AP1M1_ENST00000429941.2_Nonsense_Mutation_p.Q361*	p.Q414*	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN			11	1689	+			414			MHD.		Q4TTY5	Nonsense_Mutation	SNP	ENST00000291439.3	37	c.1240C>T	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350730	0.82132	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	.	.	.	3.58	3.58	0.41010	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.47341	D	0.999393	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-40.8441	14.7336	0.69399	0.0:1.0:0.0:0.0	.	.	.	.	X	426;414;342;361	.	ENSP00000291439:Q414X	Q	+	1	0	AP1M1	16206076	1.000000	0.71417	0.938000	0.37757	0.427000	0.31564	7.418000	0.80167	2.017000	0.59298	0.561000	0.74099	CAG		0.637	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		11	7	0	0	0	1	0	11	7					T	16345076	C	T	16345076	4	4	435	1	0	0	0	0	0	1	0	0	734	711	25	3	1322	3	AP1M1	19	16345076	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6639	16345076	42783907	8092	29017											
EPS15L1	58513	broad.mit.edu	37	chr19	16514562	16514562	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggttgatttcgtcttgCgttgacttcagggacttgat	6	16	11	8	2	2	3	1	3	1	0	3	4	2	4	1	2	1	2	1	2	0	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16514562C>T	ENST00000248070.6	-	15	1747	c.1608G>A	c.(1606-1608)acG>acA	p.T536T	EPS15L1_ENST00000602009.1_Silent_p.T382T|EPS15L1_ENST00000594975.1_Silent_p.T536T|EPS15L1_ENST00000535753.2_Silent_p.T536T|EPS15L1_ENST00000597937.1_Silent_p.T536T|EPS15L1_ENST00000455140.2_Silent_p.T536T	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	536					endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T536T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TTTCGTCTTGCGTTGACTTCA	0.587																																						ENST00000602009.1																			1	Substitution - coding silent(1)	p.T536T(1)	breast(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(1144-1146)acG>acA		epidermal growth factor receptor pathway substrate 15-like 1							149	127	135					19																	16514562		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16514562C>T	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1608G>A	19.37:g.16514562C>T						EPS15L1_ENST00000597937.1_Silent_p.T536T|EPS15L1_ENST00000594975.1_Silent_p.T536T|EPS15L1_ENST00000535753.2_Silent_p.T536T|EPS15L1_ENST00000248070.6_Silent_p.T536T|EPS15L1_ENST00000455140.2_Silent_p.T536T	p.T382T			Q9UBC2	EP15R_HUMAN			9	2041	-			536					A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.1146G>A	CCDS32944.1																																																																																				0.587	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		30	51	0	0	0	1	0	30	51					T	16514562	C	T	16514562	2	4	435	1	0	0	0	0	0	0	0	1	5193	755	27	1		1	EPS15L1	19	16514562	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	169486	16514562	42614421	8093	29018											
CHERP	84167	broad.mit.edu	37	chr19	16630047	16630047	+	Intron	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggtagttctcataggggtCatccagagccacgcccacgc	8	7	12	14	3	2	1	2	0	1	1	4	1	3	1	3	3	1	2	3	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16630047C>T	ENST00000221671.3	+	9	2170				CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000546361.2_Missense_Mutation_p.D892N|CHERP_ENST00000198939.6_Missense_Mutation_p.D903N|CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TCATAGGGGTCATCCAGAGCC	0.632																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(2674-2676)Gac>Aac		calcium homeostasis endoplasmic reticulum protein							60	64	63					19																	16630047		2042	4184	6226	SO:0001627	intron_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16630047C>T	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1972-858C>T	19.37:g.16630047C>T						CTD-3222D19.2_ENST00000409035.1_3'UTR|C19orf44_ENST00000221671.3_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.D903N|CHERP_ENST00000544299.1_5'UTR	p.D892N	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			17	2825	-			892					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.2674G>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622127	0.87460	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.60548	0.18;0.21	5.21	5.21	0.72293	.	.	.	.	.	T	0.76364	0.3977	M	0.76170	2.325	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.79475	-0.1788	9	0.87932	D	0	-26.1472	17.7484	0.88427	0.0:1.0:0.0:0.0	.	892	Q8IWX8	CHERP_HUMAN	N	892;903	ENSP00000439856:D892N;ENSP00000198939:D903N	ENSP00000198939:D903N	D	-	1	0	CHERP	16491047	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	7.290000	0.78711	2.434000	0.82447	0.555000	0.69702	GAC		0.632	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		15	16	0	0	0	1	0	15	16					T	16630047	C	T	16630047	1	4	435	0	1	0	0	0	0	0	0	0	3336	826	29	3		3	CHERP	19	16630047	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	115485	16630047	42498936	8094	29019											
SLC35E1	79939	broad.mit.edu	37	chr19	16677423	16677423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagacggcgtggcagcccaGgatgttgagcagccggagat	10	5	17	9	3	0	3	0	1	0	2	0	6	0	4	2	4	3	3	2	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16677423G>A	ENST00000595753.1	-	4	693	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	CTD-3222D19.10_ENST00000597851.1_RNA|CTD-3222D19.2_ENST00000409035.1_Silent_p.S419S|SLC35E1_ENST00000431408.1_Silent_p.L70L	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	226					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						TGGCAGCCCAGGATGTTGAGC	0.532																																						ENST00000595753.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						c.(676-678)Ctg>Ttg		solute carrier family 35, member E1							91	90	90					19																	16677423		2203	4300	6503	SO:0001819	synonymous_variant	79939				transport	integral to membrane		g.chr19:16677423G>A	AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"Solute carriers"	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.676C>T	19.37:g.16677423G>A						CTD-3222D19.2_ENST00000409035.1_Silent_p.S419S|SLC35E1_ENST00000431408.1_Silent_p.L70L	p.L226L	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN			4	693	-			226					Q8NBQ2|Q96JV7	Silent	SNP	ENST00000595753.1	37	c.676C>T	CCDS12346.2																																																																																				0.532	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326809.2	NM_024881		17	34	0	0	0	1	0	17	34					A	16677423	G	A	16677423	2	1	435	1	0	0	0	0	0	0	0	1	14584	991	35	3		3	SLC35E1	19	16677423	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	47376	16677423	42451560	8095	29020											
MED26	9441	broad.mit.edu	37	chr19	16687031	16687031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcagaccagggaggtccgtgGgcgggctttgaggcaccagc	7	6	17	11	2	1	2	1	1	0	1	2	3	2	3	3	5	1	2	3	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16687031G>A	ENST00000263390.3	-	3	1872	c.1610C>T	c.(1609-1611)cCc>cTc	p.P537L	CTD-3222D19.2_ENST00000409035.1_Intron|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	537					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GAGGTCCGTGGGCGGGCTTTG	0.647																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(1609-1611)cCc>cTc		mediator complex subunit 26							49	50	50					19																	16687031		2203	4300	6503	SO:0001583	missense	9441				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	g.chr19:16687031G>A	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.1610C>T	19.37:g.16687031G>A	ENSP00000263390:p.Pro537Leu					CTD-3222D19.2_ENST00000409035.1_Intron	p.P537L	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	1872	-			537					A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	c.1610C>T	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	G	9.836	1.189643	0.21954	.	.	ENSG00000105085	ENST00000263390	T	0.46451	0.87	5.28	5.28	0.74379	.	0.686962	0.14589	N	0.310362	T	0.41050	0.1142	L	0.50333	1.59	0.21499	N	0.999664	B	0.32573	0.376	B	0.26770	0.073	T	0.42766	-0.9432	10	0.72032	D	0.01	-9.906	17.8803	0.88838	0.0:0.0:1.0:0.0	.	537	O95402	MED26_HUMAN	L	537	ENSP00000263390:P537L	ENSP00000263390:P537L	P	-	2	0	MED26	16548031	0.937000	0.31787	0.290000	0.24890	0.358000	0.29455	2.843000	0.48238	2.464000	0.83262	0.591000	0.81541	CCC		0.647	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		25	21	0	0	0	1	0	25	21					A	16687031	G	A	16687031	3	1	435	1	0	0	0	0	1	0	0	0	9444	1232	43	3	196	3	MED26	19	16687031	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9608	16687031	42441952	8096	29021											
MED26	9441	broad.mit.edu	37	chr19	16687136	16687136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagcccctggggtctgcGcgcccgatgatgagagcagg	6	6	18	11	3	1	3	0	3	1	1	1	5	1	3	3	4	3	1	3	4	0	0	rs199739577		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16687136G>A	ENST00000263390.3	-	3	1767	c.1505C>T	c.(1504-1506)gCg>gTg	p.A502V	CTD-3222D19.2_ENST00000409035.1_Intron|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	502					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGGGGTCTGCGCGCCCGATGA	0.617																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(1504-1506)gCg>gTg		mediator complex subunit 26		G	VAL/ALA	0,4406		0,0,2203	68	60	62		1505	3.9	0.5	19		62	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MED26	NM_004831.3	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	502/601	16687136	2,13004	2203	4300	6503	SO:0001583	missense	9441				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	g.chr19:16687136G>A	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.1505C>T	19.37:g.16687136G>A	ENSP00000263390:p.Ala502Val					CTD-3222D19.2_ENST00000409035.1_Intron	p.A502V	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	1767	-			502					A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	c.1505C>T	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	G	5.222	0.226450	0.09916	0.0	2.33E-4	ENSG00000105085	ENST00000263390	T	0.44083	0.93	5.14	3.88	0.44766	.	0.251920	0.39341	N	0.001392	T	0.15955	0.0384	N	0.04297	-0.235	0.38261	D	0.941885	B	0.19445	0.036	B	0.15484	0.013	T	0.18209	-1.0344	10	0.15952	T	0.53	-5.9868	4.2649	0.10759	0.3029:0.0:0.6971:0.0	.	502	O95402	MED26_HUMAN	V	502	ENSP00000263390:A502V	ENSP00000263390:A502V	A	-	2	0	MED26	16548136	0.966000	0.33281	0.547000	0.28179	0.375000	0.29983	3.381000	0.52455	2.566000	0.86566	0.585000	0.79938	GCG		0.617	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		19	19	0	0	0	1	0	19	19					A	16687136	G	A	16687136	3	1	435	1	0	0	0	0	1	0	0	0	9444	1087	38	1	301	1	MED26	19	16687136	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	105	16687136	42441847	8097	29022											
MED26	9441	broad.mit.edu	37	chr19	16687166	16687166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagagcaggctgctctgcCggctcaggtaggactggatg	8	8	16	9	1	2	1	1	1	1	1	2	4	2	3	1	5	3	5	1	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16687166C>T	ENST00000263390.3	-	3	1737	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	CTD-3222D19.2_ENST00000409035.1_Intron|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	492					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GCTGCTCTGCCGGCTCAGGTA	0.627																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(1474-1476)cGg>cAg		mediator complex subunit 26							82	70	74					19																	16687166		2203	4300	6503	SO:0001583	missense	9441				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	g.chr19:16687166C>T	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.1475G>A	19.37:g.16687166C>T	ENSP00000263390:p.Arg492Gln					CTD-3222D19.2_ENST00000409035.1_Intron	p.R492Q	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	1737	-			492					A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	c.1475G>A	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919345	0.52546	.	.	ENSG00000105085	ENST00000263390	T	0.44083	0.93	5.14	4.09	0.47781	.	0.132195	0.49916	D	0.000136	T	0.35653	0.0939	L	0.48362	1.52	0.34088	D	0.660362	B	0.18863	0.031	B	0.10450	0.005	T	0.43861	-0.9365	10	0.25751	T	0.34	-20.0521	13.4566	0.61201	0.0:0.9231:0.0:0.0769	.	492	O95402	MED26_HUMAN	Q	492	ENSP00000263390:R492Q	ENSP00000263390:R492Q	R	-	2	0	MED26	16548166	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.259000	0.51515	1.298000	0.44778	0.585000	0.79938	CGG		0.627	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		15	26	0	0	0	1	0	15	26					T	16687166	C	T	16687166	3	4	435	1	0	0	0	0	1	0	0	0	9444	652	23	2	331	2	MED26	19	16687166	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30	16687166	42441817	8098	29023											
TMEM38A	79041	broad.mit.edu	37	chr19	16791335	16791335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcggtgggcatccatcacGcccatcaccactaccaccac	9	6	7	19	3	2	0	2	0	0	0	4	0	3	0	5	2	1	1	5	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16791335G>A	ENST00000187762.2	+	3	500	c.409G>A	c.(409-411)Gcc>Acc	p.A137T		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	137	His-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.A137T(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CATCCATCACGCCCATCACCA	0.522																																						ENST00000187762.2																			1	Substitution - Missense(1)	p.A137T(1)	endometrium(1)	central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(409-411)Gcc>Acc		transmembrane protein 38A							132	121	125					19																	16791335		2203	4300	6503	SO:0001583	missense	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16791335G>A	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.409G>A	19.37:g.16791335G>A	ENSP00000187762:p.Ala137Thr						p.A137T	NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN			3	500	+			137			His-rich.		A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	c.409G>A	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	g	32	5.170054	0.94768	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.83348	0.5235	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86168	0.1598	9	0.87932	D	0	-19.9997	17.5463	0.87863	0.0:0.0:1.0:0.0	.	137	Q9H6F2	TM38A_HUMAN	T	137	.	ENSP00000187762:A137T	A	+	1	0	TMEM38A	16652335	1.000000	0.71417	0.701000	0.30321	0.839000	0.47603	9.695000	0.98691	2.459000	0.83118	0.561000	0.74099	GCC		0.522	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		7	98	0	0	0	1	0	7	98					A	16791335	G	A	16791335	3	1	435	1	0	0	0	0	1	0	0	0	16156	1087	38	1	419	1	TMEM38A	19	16791335	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	104169	16791335	42337648	8099	29024											
NWD1	284434	broad.mit.edu	37	chr19	16908688	16908688	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcacggggtcccttgatgcGctcattcaggtgaggggaga	8	9	15	9	2	3	3	3	2	0	1	4	4	4	3	1	5	1	1	1	5	0	2	rs564519901		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16908688G>A	ENST00000552788.1	+	14	3450	c.3450G>A	c.(3448-3450)gcG>gcA	p.A1150A	NWD1_ENST00000549814.1_Silent_p.A1150A|NWD1_ENST00000339803.6_Silent_p.A1015A|NWD1_ENST00000379808.3_Silent_p.A1150A|NWD1_ENST00000523826.1_Silent_p.A944A|NWD1_ENST00000524140.2_Silent_p.A1150A			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1150							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCTTGATGCGCTCATTCAGG	0.507													G|||	1	0.000199681	0	0	5008	,	,		18506	0.001		0	False		,,,				2504	0					ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3448-3450)gcG>gcA		NACHT and WD repeat domain containing 1							236	217	223					19																	16908688		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16908688G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3450G>A	19.37:g.16908688G>A						NWD1_ENST00000339803.6_Silent_p.A1015A|NWD1_ENST00000523826.1_Silent_p.A944A|NWD1_ENST00000552788.1_Silent_p.A1150A|NWD1_ENST00000379808.3_Silent_p.A1150A|NWD1_ENST00000549814.1_Silent_p.A1150A	p.A1150A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			16	3868	+			1150					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.3450G>A																																																																																					0.507	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		63	108	0	0	0	1	0	63	108					A	16908688	G	A	16908688	2	1	435	1	0	0	0	0	0	0	0	1	10781	1074	38	1		1	NWD1	19	16908688	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	117353	16908688	42220295	8100	29025											
NWD1	284434	broad.mit.edu	37	chr19	16918719	16918719	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccgagaccctctccagCgtggccattctgacggacta	7	8	10	16	3	2	2	0	1	2	1	3	4	2	3	4	2	2	0	4	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16918719C>T	ENST00000552788.1	+	16	4059	c.4059C>T	c.(4057-4059)agC>agT	p.S1353S	NWD1_ENST00000549814.1_Silent_p.S1311S|NWD1_ENST00000339803.6_Silent_p.S1218S|NWD1_ENST00000379808.3_Silent_p.S1353S|NWD1_ENST00000523826.1_Silent_p.S1147S|NWD1_ENST00000524140.2_Silent_p.S1353S			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1353							ATP binding (GO:0005524)	p.S1353S(1)|p.S1218S(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCTCTCCAGCGTGGCCATTC	0.577																																						ENST00000524140.2																			2	Substitution - coding silent(2)	p.S1353S(1)|p.S1218S(1)	endometrium(2)	NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(4057-4059)agC>agT		NACHT and WD repeat domain containing 1							163	141	148					19																	16918719		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16918719C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4059C>T	19.37:g.16918719C>T						NWD1_ENST00000339803.6_Silent_p.S1218S|NWD1_ENST00000523826.1_Silent_p.S1147S|NWD1_ENST00000552788.1_Silent_p.S1353S|NWD1_ENST00000379808.3_Silent_p.S1353S|NWD1_ENST00000549814.1_Silent_p.S1311S	p.S1353S	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			18	4477	+			1353					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.4059C>T																																																																																					0.577	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		55	101	0	0	0	1	0	55	101					T	16918719	C	T	16918719	2	4	435	1	0	0	0	0	0	0	0	1	10781	767	27	1		1	NWD1	19	16918719	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10031	16918719	42210264	8101	29026											
NWD1	284434	broad.mit.edu	37	chr19	16918888	16918888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagcgggtctgaggatGccctgctgtgtctctgggac	4	11	16	10	1	3	1	1	1	2	0	4	3	3	3	1	4	3	1	1	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16918888G>A	ENST00000552788.1	+	16	4228	c.4228G>A	c.(4228-4230)Gcc>Acc	p.A1410T	NWD1_ENST00000549814.1_Missense_Mutation_p.A1368T|NWD1_ENST00000339803.6_Missense_Mutation_p.A1275T|NWD1_ENST00000379808.3_Missense_Mutation_p.A1410T|NWD1_ENST00000523826.1_Missense_Mutation_p.A1204T|NWD1_ENST00000524140.2_Missense_Mutation_p.A1410T			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1410							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTCTGAGGATGCCCTGCTGTG	0.602																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(4228-4230)Gcc>Acc		NACHT and WD repeat domain containing 1							88	87	87					19																	16918888		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16918888G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4228G>A	19.37:g.16918888G>A	ENSP00000447224:p.Ala1410Thr					NWD1_ENST00000339803.6_Missense_Mutation_p.A1275T|NWD1_ENST00000523826.1_Missense_Mutation_p.A1204T|NWD1_ENST00000552788.1_Missense_Mutation_p.A1410T|NWD1_ENST00000379808.3_Missense_Mutation_p.A1410T|NWD1_ENST00000549814.1_Missense_Mutation_p.A1368T	p.A1410T	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			18	4646	+			1410					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.4228G>A		.	.	.	.	.	.	.	.	.	.	G	8.906	0.957422	0.18507	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.65549	-0.16;1.06;-0.16;0.24;0.24;0.24	4.95	1.32	0.21799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.407491	0.23811	N	0.044330	T	0.37812	0.1017	N	0.16656	0.425	0.09310	N	0.999999	B;B;B	0.18166	0.007;0.026;0.015	B;B;B	0.20767	0.007;0.015;0.031	T	0.14117	-1.0484	10	0.17832	T	0.49	-11.5937	5.8439	0.18652	0.1009:0.0:0.3941:0.505	.	1410;1410;1275	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	T	1275;1410;1368;1410;1204;1410;1275	ENSP00000428579:A1410T;ENSP00000447548:A1368T;ENSP00000369136:A1410T;ENSP00000428955:A1204T;ENSP00000447224:A1410T;ENSP00000340159:A1275T	ENSP00000340159:A1275T	A	+	1	0	NWD1	16779888	0.007000	0.16637	0.029000	0.17559	0.147000	0.21601	0.481000	0.22260	0.462000	0.27095	0.655000	0.94253	GCC		0.602	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		27	45	0	0	0	1	0	27	45					A	16918888	G	A	16918888	3	1	435	1	0	0	0	0	1	0	0	0	10781	1319	46	3	3877	3	NWD1	19	16918888	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	169	16918888	42210095	8102	29027											
CPAMD8	27151	broad.mit.edu	37	chr19	17007014	17007014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctccccttcaggctcaGggtctgagtcctccacctca	5	9	8	19	1	4	1	3	1	1	0	7	1	7	1	7	2	0	1	7	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17007014G>T	ENST00000443236.1	-	41	5571	c.5540C>A	c.(5539-5541)cCt>cAt	p.P1847H	CPAMD8_ENST00000597335.1_5'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1800						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			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						TTCAGGCTCAGGGTCTGAGTC	0.612																																						ENST00000443236.1																			0				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						c.(5539-5541)cCt>cAt		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							63	70	68					19																	17007014		2013	4164	6177	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17007014G>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.5540C>A	19.37:g.17007014G>T	ENSP00000402505:p.Pro1847His					CPAMD8_ENST00000597335.1_5'UTR	p.P1847H	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			41	5571	-			1800					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.5540C>A	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.000|8.000	0.755268|0.755268	0.15846|0.15846	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	1.21|1.21	1.21|1.21	0.21127|0.21127	.|.	.|18.695400	.|0.01234	.|U	.|0.008432	T|T	0.25680|0.25680	0.0625|0.0625	N|N	0.08118|0.08118	0|0	0.23425|0.23425	N|N	0.997705|0.997705	.|B	.|0.10296	.|0.003	.|B	.|0.01281	.|0.0	T|T	0.19811|0.19811	-1.0294|-1.0294	5|9	.|0.42905	.|T	.|0.14	.|.	6.35|6.35	0.21370|0.21370	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1800	.|Q8IZJ3	.|CPMD8_HUMAN	M|H	1858|1847	.|.	.|ENSP00000291440:P1847H	L|P	-|-	1|2	2|0	CPAMD8|CPAMD8	16868014|16868014	0.038000|0.038000	0.19896|0.19896	0.323000|0.323000	0.25347|0.25347	0.104000|0.104000	0.19210|0.19210	1.565000|1.565000	0.36386|0.36386	0.579000|0.579000	0.29504|0.29504	0.428000|0.428000	0.28381|0.28381	CTG|CCT		0.612	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		17	32	1	0	0.006122	1	0.0061903	17	32					T	17007014	G	T	17007014	3	4	435	1	0	0	0	0	1	0	0	0	3795	1000	35	5	266	5	CPAMD8	19	17007014	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	88126	17007014	42121969	8103	29028											
CPAMD8	27151	broad.mit.edu	37	chr19	17104395	17104395	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcggggtaggatagctccAcctagaaaaggtcacccaag	13	6	11	11	1	1	1	1	0	0	1	3	2	2	2	3	4	1	2	3	4	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17104395A>G	ENST00000443236.1	-	12	1269	c.1238T>C	c.(1237-1239)gTg>gCg	p.V413A	CPAMD8_ENST00000388925.4_Splice_Site_p.V366A	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	366						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			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						GGATAGCTCCACCTAGAAAAG	0.532																																						ENST00000443236.1																			0				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						c.e12-1		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							51	50	50					19																	17104395		1972	4147	6119	SO:0001630	splice_region_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17104395A>G	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1237-1T>C	19.37:g.17104395A>G						CPAMD8_ENST00000388925.4_Splice_Site_p.V366_splice	p.V413_splice	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			12	1269	-			366					Q8NC09|Q9ULD7	Splice_Site	SNP	ENST00000443236.1	37	c.1236_splice	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.71|13.71	2.319519|2.319519	0.41096|0.41096	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440;ENST00000388925|ENST00000443236	T;T|.	0.60797|.	0.16;0.18|.	3.04|3.04	3.04|3.04	0.35103|0.35103	.|.	0.190167|.	0.35096|.	N|.	0.003460|.	T|T	0.67221|0.67221	0.2870|0.2870	M|M	0.75615|0.75615	2.305|2.305	0.35475|0.35475	D|D	0.797659|0.797659	P|.	0.45396|.	0.857|.	B|.	0.42062|.	0.374|.	T|T	0.74740|0.74740	-0.3563|-0.3563	10|5	0.41790|.	T|.	0.15|.	.|.	11.5154|11.5154	0.50518|0.50518	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	366|.	Q8IZJ3|.	CPMD8_HUMAN|.	A|R	413;366|424	ENSP00000291440:V413A;ENSP00000373577:V366A|.	ENSP00000291440:V413A|.	V|W	-|-	2|1	0|0	CPAMD8|CPAMD8	16965395|16965395	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.158000|0.158000	0.22134|0.22134	7.500000|7.500000	0.81588|0.81588	1.184000|1.184000	0.42957|0.42957	0.533000|0.533000	0.62120|0.62120	GTG|TGG		0.532	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	Missense_Mutation	5	27	0	0	0	1	0	5	27					G	17104395	A	G	17104395	5	3	435	1	0	0	0	0	0	0	1	0	3795	173	6	4	4684	4	CPAMD8	19	17104395	Splice_Site	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	97381	17104395	42024588	8104	29029											
MYO9B	4650	broad.mit.edu	37	chr19	17212765	17212765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaggaatgggtgctggacGccaacgactcgcctgtgcac	8	6	15	12	4	0	0	0	0	0	0	1	4	0	2	2	3	3	2	2	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17212765G>A	ENST00000594824.1	+	2	385	c.238G>A	c.(238-240)Gcc>Acc	p.A80T	MYO9B_ENST00000397274.2_Missense_Mutation_p.A80T|CTD-2528A14.5_ENST00000597045.1_RNA|MYO9B_ENST00000595618.1_Missense_Mutation_p.A80T			Q13459	MYO9B_HUMAN	myosin IXB	80	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGTGCTGGACGCCAACGACTC	0.632																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(238-240)Gcc>Acc		myosin IXB							49	55	53					19																	17212765		2089	4207	6296	SO:0001583	missense	4650				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	g.chr19:17212765G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.238G>A	19.37:g.17212765G>A	ENSP00000471367:p.Ala80Thr					MYO9B_ENST00000397274.2_Missense_Mutation_p.A80T|MYO9B_ENST00000594824.1_Missense_Mutation_p.A80T	p.A80T	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			2	390	+			80			Myosin head-like.|Ras-associating.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.238G>A		.	.	.	.	.	.	.	.	.	.	G	11.41	1.629578	0.28978	.	.	ENSG00000099331	ENST00000397274	T	0.17370	2.28	4.93	3.87	0.44632	Ras-association (3);	0.138273	0.33127	N	0.005242	T	0.10165	0.0249	L	0.29908	0.895	0.22127	N	0.999348	B;B;B	0.31519	0.327;0.327;0.327	B;B;B	0.28139	0.086;0.086;0.055	T	0.21999	-1.0229	10	0.49607	T	0.09	.	3.4103	0.07356	0.0964:0.1728:0.5524:0.1784	.	80;80;86	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	T	80	ENSP00000380444:A80T	ENSP00000380444:A80T	A	+	1	0	MYO9B	17073765	0.094000	0.21725	0.160000	0.22671	0.856000	0.48823	0.654000	0.24918	1.017000	0.39495	0.655000	0.94253	GCC		0.632	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			7	26	0	0	0	1	0	7	26					A	17212765	G	A	17212765	3	1	435	1	0	0	0	0	1	0	0	0	10085	1087	38	1	240	1	MYO9B	19	17212765	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	108370	17212765	41916218	8105	29030											
USE1	55850	broad.mit.edu	37	chr19	17329200	17329200	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggacgtaaggaagagaaCgtgagtgtctgcggccctgg	10	7	17	7	3	1	2	0	1	1	1	1	6	1	4	1	4	2	1	1	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17329200C>T	ENST00000263897.5	+	6	469	c.422C>T	c.(421-423)aCt>aTt	p.T141I	USE1_ENST00000596136.1_Splice_Site_p.T141I|USE1_ENST00000595101.1_3'UTR|USE1_ENST00000379776.4_Splice_Site_p.T141I|USE1_ENST00000445667.2_Splice_Site_p.T141I	NM_018467.3	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	141					endoplasmic reticulum tubular network organization (GO:0071786)|lysosomal transport (GO:0007041)|protein catabolic process (GO:0030163)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|secretion by cell (GO:0032940)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|lung(3)	6						AGGAAGAGAACGTGAGTGTCT	0.582																																						ENST00000445667.2																			0				breast(2)|endometrium(1)|lung(3)	6						c.e6+1		unconventional SNARE in the ER 1 homolog (S. cerevisiae)							128	135	133					19																	17329200		2066	4198	6264	SO:0001630	splice_region_variant	55850				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:17329200C>T	AF220052	CCDS46011.1	19p13.11	2007-08-20				ENSG00000053501			30882	protein-coding gene	gene with protein product	"Q-SNARE", "SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)"	610675				16354670, 15029241	Standard	NM_018467		Approved	p31, SLT1, MDS032	uc002nfo.2	Q9NZ43		ENST00000263897.5:c.422+1C>T	19.37:g.17329200C>T						USE1_ENST00000595101.1_3'UTR|USE1_ENST00000596136.1_Splice_Site_p.T141_splice|USE1_ENST00000379776.4_Splice_Site_p.T141_splice|USE1_ENST00000263897.5_Splice_Site_p.T141_splice	p.T141_splice			Q9NZ43	USE1_HUMAN			6	482	+			141					Q8NCK1|Q9BRT4	Splice_Site	SNP	ENST00000263897.5	37	c.422_splice	CCDS46011.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455973	0.43634	.	.	ENSG00000053501	ENST00000263897;ENST00000445667;ENST00000379776	T;T	0.44083	0.93;0.93	2.58	-4.77	0.03219	.	0.656341	0.14815	N	0.296804	T	0.14013	0.0339	N	0.03608	-0.345	0.24989	N	0.991546	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.08351	-1.0726	10	0.37606	T	0.19	0.6364	4.2591	0.10732	0.0:0.3728:0.2683:0.3589	.	141;141	Q9NZ43-2;Q9NZ43	.;USE1_HUMAN	I	141	ENSP00000263897:T141I;ENSP00000390287:T141I	ENSP00000263897:T141I	T	+	2	0	USE1	17190200	0.176000	0.23096	0.898000	0.35279	0.558000	0.35554	-2.161000	0.01278	-0.948000	0.03668	0.313000	0.20887	ACT;ACT;ACA		0.582	USE1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463295.1	NM_018467	Missense_Mutation	12	14	0	0	0	1	0	12	14					T	17329200	C	T	17329200	5	4	435	1	0	0	0	0	0	0	1	0	17028	550	19	1	444	1	USE1	19	17329200	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	116435	17329200	41799783	8106	29031											
NR2F6	2063	broad.mit.edu	37	chr19	17343236	17343236	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcagtgtctcaatgggCgtcttccccaccaggcgcat	7	10	10	14	2	3	1	2	1	2	0	5	1	4	1	3	2	0	1	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17343236C>T	ENST00000291442.3	-	4	1859	c.1140G>A	c.(1138-1140)acG>acA	p.T380T		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	380	Important for dimerization. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|entrainment of circadian clock by photoperiod (GO:0043153)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						TCTCAATGGGCGTCTTCCCCA	0.667																																						ENST00000291442.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						c.(1138-1140)acG>acA		nuclear receptor subfamily 2, group F, member 6							69	62	64					19																	17343236		2203	4300	6503	SO:0001819	synonymous_variant	2063				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	g.chr19:17343236C>T	X12794	CCDS12352.1	19p13.11	2013-09-20			ENSG00000160113	ENSG00000160113		"Nuclear hormone receptors"	7977	protein-coding gene	gene with protein product		132880		ERBAL2		2905047	Standard	NM_005234		Approved	EAR-2	uc002nfq.3	P10588	OTTHUMG00000182728	ENST00000291442.3:c.1140G>A	19.37:g.17343236C>T							p.T380T	NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN			4	1859	-			380			Important for dimerization (By similarity).|Ligand-binding (By similarity).		B2RC68|Q5XGA0|Q6P586|Q9BUE8	Silent	SNP	ENST00000291442.3	37	c.1140G>A	CCDS12352.1																																																																																				0.667	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463325.1			5	32	0	0	0	1	0	5	32					T	17343236	C	T	17343236	2	4	435	1	0	0	0	0	0	0	0	1	10629	755	27	1		1	NR2F6	19	17343236	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14036	17343236	41785747	8107	29032											
FAM125A	93343	broad.mit.edu	37	chr19	17533145	17533145	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccccactcccagaggcCtctgtgtccaagaagaaacg	11	6	8	16	1	1	3	0	0	1	3	3	3	3	3	6	1	2	0	6	1	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17533145C>A	ENST00000317040.7	+	4	1346	c.291C>A	c.(289-291)gcC>gcA	p.A97A	CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000529939.1_Silent_p.A97A|MVB12A_ENST00000543795.1_Silent_p.A97A|MVB12A_ENST00000528515.1_Intron|MVB12A_ENST00000392702.2_Silent_p.A97A|CTD-2521M24.8_ENST00000597028.1_RNA			Q96EY5	MB12A_HUMAN	multivesicular body subunit 12A	97	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|vesicle (GO:0031982)	lipid binding (GO:0008289)|ubiquitin binding (GO:0043130)										TCCCAGAGGCCTCTGTGTCCA	0.597																																						ENST00000317040.7																			0											c.(289-291)gcC>gcA		multivesicular body subunit 12A							94	87	90					19																	17533145		2203	4300	6503	SO:0001819	synonymous_variant	93343							g.chr19:17533145C>A	BC011840	CCDS12359.1	19p13.11	2013-10-11	2012-12-03	2012-12-03	ENSG00000141971	ENSG00000141971			25153	protein-coding gene	gene with protein product			"family with sequence similarity 125, member A"	FAM125A		18005716, 20654576, 22232651	Standard	NM_138401		Approved	FLJ32495	uc002ngo.1	Q96EY5	OTTHUMG00000166252	ENST00000317040.7:c.291C>A	19.37:g.17533145C>A						MVB12A_ENST00000392702.2_Silent_p.A97A|MVB12A_ENST00000528515.1_Intron|MVB12A_ENST00000529939.1_Silent_p.A97A|MVB12A_ENST00000543795.1_Silent_p.A97A	p.A97A							4	1346	+								Q96I18	Silent	SNP	ENST00000317040.7	37	c.291C>A	CCDS12359.1																																																																																				0.597	MVB12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388723.2	NM_138401		18	21	1	0	2.4624e-09	1	2.6129e-09	18	21					A	17533145	C	A	17533145	2	1	435	1	0	0	0	0	0	0	0	1	5427	668	24	5		5	FAM125A	19	17533145	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	189909	17533145	41595838	8108	29033											
SLC27A1	376497	broad.mit.edu	37	chr19	17599665	17599665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccccctgcaggtactaccGcatggcagccttcggccacc	6	7	9	19	2	0	0	0	0	0	0	2	0	1	0	6	3	4	4	6	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17599665G>A	ENST00000252595.7	+	5	900	c.803G>A	c.(802-804)cGc>cAc	p.R268H	SLC27A1_ENST00000442725.1_Missense_Mutation_p.R268H|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R89H|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	268	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGGTACTACCGCATGGCAGCC	0.657																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(802-804)cGc>cAc		solute carrier family 27 (fatty acid transporter), member 1							29	28	28					19																	17599665		2203	4300	6503	SO:0001583	missense	376497				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	g.chr19:17599665G>A	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.803G>A	19.37:g.17599665G>A	ENSP00000252595:p.Arg268His					SLC27A1_ENST00000442725.1_Missense_Mutation_p.R268H|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R89H	p.R268H	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			5	900	+			268			Sufficient for oligomerization (By similarity).		A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.803G>A	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314358	0.81358	.	.	ENSG00000130304	ENST00000442725;ENST00000252595;ENST00000300969	T;T	0.40756	1.02;1.02	4.38	4.38	0.52667	AMP-dependent synthetase/ligase (1);	0.119927	0.56097	D	0.000034	T	0.60090	0.2242	M	0.74258	2.255	0.58432	D	0.999994	D;D	0.76494	0.999;0.999	D;D	0.71414	0.945;0.973	T	0.58440	-0.7636	10	0.15499	T	0.54	.	14.4309	0.67249	0.0:0.0:1.0:0.0	.	89;268	B7Z662;Q6PCB7	.;S27A1_HUMAN	H	268;268;130	ENSP00000413424:R268H;ENSP00000252595:R268H	ENSP00000252595:R268H	R	+	2	0	SLC27A1	17460665	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.452000	0.80683	1.995000	0.58328	0.561000	0.74099	CGC		0.657	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		5	12	0	0	0	1	0	5	12					A	17599665	G	A	17599665	3	1	435	1	0	0	0	0	1	0	0	0	14525	1087	38	1	821	1	SLC27A1	19	17599665	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	66520	17599665	41529318	8109	29034											
SLC27A1	376497	broad.mit.edu	37	chr19	17611139	17611139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccacgtgtaccccatccGgctggtgaaggtcaatgagg	8	7	13	13	2	1	2	1	2	0	0	2	2	2	2	5	4	1	2	5	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17611139G>A	ENST00000252595.7	+	8	1356	c.1259G>A	c.(1258-1260)cGg>cAg	p.R420Q	SLC27A1_ENST00000442725.1_Missense_Mutation_p.R420Q|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R241Q|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	420	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TACCCCATCCGGCTGGTGAAG	0.652																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1258-1260)cGg>cAg		solute carrier family 27 (fatty acid transporter), member 1							57	55	56					19																	17611139		2203	4300	6503	SO:0001583	missense	376497				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	g.chr19:17611139G>A	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1259G>A	19.37:g.17611139G>A	ENSP00000252595:p.Arg420Gln					SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000442725.1_Missense_Mutation_p.R420Q|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R241Q|CTD-3131K8.2_ENST00000596643.1_lincRNA	p.R420Q	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			8	1356	+			420			Sufficient for oligomerization (By similarity).		A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.1259G>A	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650509	0.47362	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.45276	0.9;0.9	4.03	0.69	0.18039	AMP-dependent synthetase/ligase (1);	0.071875	0.64402	D	0.000020	T	0.36853	0.0982	L	0.49640	1.575	0.47441	D	0.999423	D;P	0.57257	0.979;0.955	P;B	0.49451	0.611;0.427	T	0.24333	-1.0163	10	0.14656	T	0.56	-12.2593	7.6199	0.28179	0.2922:0.0:0.7078:0.0	.	241;420	B7Z662;Q6PCB7	.;S27A1_HUMAN	Q	420	ENSP00000413424:R420Q;ENSP00000252595:R420Q	ENSP00000252595:R420Q	R	+	2	0	SLC27A1	17472139	0.819000	0.29175	0.928000	0.36995	0.550000	0.35303	4.271000	0.58902	0.050000	0.15949	-1.056000	0.02311	CGG		0.652	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		26	33	0	0	0	1	0	26	33					A	17611139	G	A	17611139	3	1	435	1	0	0	0	0	1	0	0	0	14525	1116	39	2	1289	2	SLC27A1	19	17611139	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11474	17611139	41517844	8110	29035											
GLT25D1	79709	broad.mit.edu	37	chr19	17671207	17671207	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtctgactcacgctacgAgcatgtcatgaagttgcgcc	8	10	11	12	3	3	2	2	2	1	0	3	3	3	2	1	1	3	3	1	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17671207A>G	ENST00000252599.4	+	3	542	c.422A>G	c.(421-423)gAg>gGg	p.E141G		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	141					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										TCACGCTACGAGCATGTCATG	0.552																																						ENST00000252599.4																			0											c.(421-423)gAg>gGg		collagen beta(1-O)galactosyltransferase 1							115	97	103					19																	17671207		2203	4300	6503	SO:0001583	missense	79709							g.chr19:17671207A>G	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.422A>G	19.37:g.17671207A>G	ENSP00000252599:p.Glu141Gly						p.E141G	NM_024656.2	NP_078932.2					3	542	+								Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	c.422A>G	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949701	0.53186	.	.	ENSG00000130309	ENST00000252599	D	0.84298	-1.83	4.61	4.61	0.57282	.	0.114937	0.56097	D	0.000024	D	0.86066	0.5844	M	0.72479	2.2	0.54753	D	0.999989	B	0.29270	0.24	B	0.39771	0.309	D	0.83807	0.0239	10	0.34782	T	0.22	-23.0424	11.9882	0.53159	1.0:0.0:0.0:0.0	.	141	Q8NBJ5	GT251_HUMAN	G	141	ENSP00000252599:E141G	ENSP00000252599:E141G	E	+	2	0	GLT25D1	17532207	0.988000	0.35896	0.969000	0.41365	0.941000	0.58515	2.668000	0.46816	1.729000	0.51567	0.386000	0.25728	GAG		0.552	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		19	21	0	0	0	1	0	19	21					G	17671207	A	G	17671207	3	3	435	1	0	0	0	0	1	0	0	0	6466	304	11	4	432	4	GLT25D1	19	17671207	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	60068	17671207	41457776	8111	29036											
MAP1S	55201	broad.mit.edu	37	chr19	17837219	17837219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtgttcttcaacgcctgCgaggccgcgtcgcggctggc	3	9	15	14	7	2	0	1	0	1	0	4	1	2	0	2	3	2	2	2	3	1	2	rs370137934		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17837219C>T	ENST00000324096.4	+	5	1177	c.1026C>T	c.(1024-1026)tgC>tgT	p.C342C	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.C316C|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	342	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCAACGCCTGCGAGGCCGCGT	0.731																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(1024-1026)tgC>tgT		microtubule-associated protein 1S							6	7	6					19																	17837219		2098	4136	6234	SO:0001819	synonymous_variant	55201				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	g.chr19:17837219C>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1026C>T	19.37:g.17837219C>T						MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.C316C	p.C342C	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			5	1177	+			342			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	c.1026C>T	CCDS32954.1																																																																																				0.731	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		3	2	0	0	0	1	0	3	2					T	17837219	C	T	17837219	2	4	435	1	0	0	0	0	0	0	0	1	9234	776	27	1		1	MAP1S	19	17837219	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	166012	17837219	41291764	8112	29037											
MAP1S	55201	broad.mit.edu	37	chr19	17838376	17838376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggcccccgggcgcggcGctcggcttccccacacgatg	3	5	15	18	7	0	0	0	0	0	0	2	1	1	0	4	4	0	2	4	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17838376G>A	ENST00000324096.4	+	5	2334	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	MAP1S_ENST00000597681.1_3'UTR|MAP1S_ENST00000544059.2_Missense_Mutation_p.R702H|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	728	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CGGGCGCGGCGCTCGGCTTCC	0.697																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(2182-2184)cGc>cAc		microtubule-associated protein 1S							19	17	18					19																	17838376		2198	4298	6496	SO:0001583	missense	55201				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	g.chr19:17838376G>A	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2183G>A	19.37:g.17838376G>A	ENSP00000325313:p.Arg728His					MAP1S_ENST00000597681.1_3'UTR|MAP1S_ENST00000544059.2_Missense_Mutation_p.R702H	p.R728H	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			5	2334	+			728			Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.2183G>A	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861009	0.32884	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.18960	2.18;2.19	4.32	4.32	0.51571	.	0.000000	0.50627	D	0.000107	T	0.34600	0.0903	L	0.39020	1.185	0.09310	N	1	D;D	0.76494	0.999;0.998	D;P	0.69824	0.966;0.736	T	0.08391	-1.0724	10	0.49607	T	0.09	-26.4844	14.286	0.66247	0.0:0.0:1.0:0.0	.	702;728	B4DH53;Q66K74	.;MAP1S_HUMAN	H	728;702	ENSP00000325313:R728H;ENSP00000439243:R702H	ENSP00000325313:R728H	R	+	2	0	MAP1S	17699376	1.000000	0.71417	0.255000	0.24374	0.159000	0.22180	5.223000	0.65283	1.934000	0.56057	0.484000	0.47621	CGC		0.697	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		3	8	0	0	0	1	0	3	8					A	17838376	G	A	17838376	3	1	435	1	0	0	0	0	1	0	0	0	9234	1087	38	1	2201	1	MAP1S	19	17838376	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1157	17838376	41290607	8113	29038											
FCHO1	23149	broad.mit.edu	37	chr19	17877525	17877525	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtctcctcggacaagcTggcgctgtgccacctggaac	6	7	12	16	4	1	0	0	0	1	0	3	2	1	2	4	3	3	2	4	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17877525T>C	ENST00000596536.1	+	7	525	c.242T>C	c.(241-243)cTg>cCg	p.L81P	FCHO1_ENST00000539407.1_Missense_Mutation_p.L81P|FCHO1_ENST00000595033.1_Missense_Mutation_p.L31P|FCHO1_ENST00000596951.1_Missense_Mutation_p.L81P|FCHO1_ENST00000389133.4_Missense_Mutation_p.L81P|FCHO1_ENST00000600676.1_Missense_Mutation_p.L81P|FCHO1_ENST00000252771.7_Missense_Mutation_p.L81P|FCHO1_ENST00000594202.1_Missense_Mutation_p.L81P|FCHO1_ENST00000597512.1_Missense_Mutation_p.L88P	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	81	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCGGACAAGCTGGCGCTGTGC	0.627																																						ENST00000594202.1																			0				NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						c.(241-243)cTg>cCg		FCH domain only 1							57	46	50					19																	17877525		2203	4300	6503	SO:0001583	missense	23149							g.chr19:17877525T>C	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.242T>C	19.37:g.17877525T>C	ENSP00000470731:p.Leu81Pro					FCHO1_ENST00000596536.1_Missense_Mutation_p.L81P|FCHO1_ENST00000539407.1_Missense_Mutation_p.L81P|FCHO1_ENST00000252771.7_Missense_Mutation_p.L81P|FCHO1_ENST00000597512.1_Missense_Mutation_p.L88P|FCHO1_ENST00000389133.4_Missense_Mutation_p.L81P|FCHO1_ENST00000600676.1_Missense_Mutation_p.L81P|FCHO1_ENST00000596951.1_Missense_Mutation_p.L81P|FCHO1_ENST00000595033.1_Missense_Mutation_p.L31P	p.L81P	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN			7	521	+			81			FCH.		A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.242T>C	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347762	0.82022	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.21031	2.03;2.03;2.03	5.05	5.05	0.67936	Fps/Fes/Fer/CIP4 homology (3);	0.249543	0.33610	N	0.004729	T	0.49847	0.1581	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.57051	-0.7877	10	0.72032	D	0.01	-16.5806	11.2137	0.48815	0.0:0.0:0.0:1.0	.	31;81;81	B4E120;O14526;O14526-2	.;FCHO1_HUMAN;.	P	81	ENSP00000252771:L81P;ENSP00000373785:L81P;ENSP00000437978:L81P	ENSP00000252771:L81P	L	+	2	0	FCHO1	17738525	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.392000	0.79840	1.911000	0.55334	0.454000	0.30748	CTG		0.627	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		8	10	0	0	0	1	0	8	10					C	17877525	T	C	17877525	3	2	435	1	0	0	0	0	1	0	0	0	5787	1580	55	4	256	4	FCHO1	19	17877525	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	39149	17877525	41251458	8114	29039											
FCHO1	23149	broad.mit.edu	37	chr19	17893965	17893965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagcacttccagcccaacGccgatctgctgttcaggtac	8	10	9	14	2	2	1	1	1	1	0	3	2	3	1	3	1	5	4	3	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17893965G>A	ENST00000596536.1	+	24	2360	c.2077G>A	c.(2077-2079)Gcc>Acc	p.A693T	FCHO1_ENST00000539407.1_Missense_Mutation_p.A693T|FCHO1_ENST00000595033.1_Missense_Mutation_p.A643T|FCHO1_ENST00000596951.1_Missense_Mutation_p.A693T|FCHO1_ENST00000389133.4_Missense_Mutation_p.A693T|FCHO1_ENST00000600676.1_Missense_Mutation_p.A693T|FCHO1_ENST00000252771.7_Missense_Mutation_p.A693T|FCHO1_ENST00000594202.1_Missense_Mutation_p.A693T|FCHO1_ENST00000597512.1_Missense_Mutation_p.A700T	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	693	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCAGCCCAACGCCGATCTGCT	0.617																																						ENST00000594202.1																			0				NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						c.(2077-2079)Gcc>Acc		FCH domain only 1							99	73	82					19																	17893965		2203	4300	6503	SO:0001583	missense	23149							g.chr19:17893965G>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.2077G>A	19.37:g.17893965G>A	ENSP00000470731:p.Ala693Thr					FCHO1_ENST00000596536.1_Missense_Mutation_p.A693T|FCHO1_ENST00000539407.1_Missense_Mutation_p.A693T|FCHO1_ENST00000252771.7_Missense_Mutation_p.A693T|FCHO1_ENST00000597512.1_Missense_Mutation_p.A700T|FCHO1_ENST00000389133.4_Missense_Mutation_p.A693T|FCHO1_ENST00000600676.1_Missense_Mutation_p.A693T|FCHO1_ENST00000596951.1_Missense_Mutation_p.A693T|FCHO1_ENST00000595033.1_Missense_Mutation_p.A643T	p.A693T	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN			24	2356	+			693					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.2077G>A	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	G	7.382	0.629085	0.14257	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.42513	0.97;0.97;0.97	3.84	-1.18	0.09617	Muniscin C-terminal mu homology domain (1);	0.527792	0.18809	N	0.130573	T	0.23370	0.0565	L	0.39898	1.24	0.21256	N	0.999748	B;B	0.11235	0.004;0.003	B;B	0.09377	0.004;0.004	T	0.16600	-1.0397	10	0.12766	T	0.61	-3.4352	3.2945	0.06961	0.3097:0.0:0.3669:0.3234	.	693;693	O14526;O14526-2	FCHO1_HUMAN;.	T	693	ENSP00000252771:A693T;ENSP00000373785:A693T;ENSP00000437978:A693T	ENSP00000252771:A693T	A	+	1	0	FCHO1	17754965	0.067000	0.21026	0.611000	0.29010	0.047000	0.14425	0.683000	0.25349	-0.064000	0.13043	0.305000	0.20034	GCC		0.617	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		7	15	0	0	0	1	0	7	15					A	17893965	G	A	17893965	3	1	435	1	0	0	0	0	1	0	0	0	5787	1087	38	1	2159	1	FCHO1	19	17893965	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16440	17893965	41235018	8115	29040											
B3GNT3	10331	broad.mit.edu	37	chr19	17918795	17918795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccgcccagccccggcccCgtgccatgccaacacctcta	7	4	7	23	3	1	0	0	0	1	0	1	0	1	0	9	1	4	0	9	1	2	1	rs377004909		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17918795C>T	ENST00000318683.6	+	2	326	c.179C>T	c.(178-180)cCg>cTg	p.P60L	B3GNT3_ENST00000595387.1_Missense_Mutation_p.P60L	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	60					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCCCCGGCCCCGTGCCATGCC	0.677																																						ENST00000318683.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(178-180)cCg>cTg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3							16	16	16					19																	17918795		2200	4296	6496	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17918795C>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"Beta 3-glycosyltransferases"	13528	protein-coding gene	gene with protein product	"putative type II membrane protein", "beta-1,3-N-acetylglucosaminyltransferase bGnT-3", "transmembrane protein 3"	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.179C>T	19.37:g.17918795C>T	ENSP00000321874:p.Pro60Leu					B3GNT3_ENST00000595387.1_Missense_Mutation_p.P60L	p.P60L	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN			2	326	+			60					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.179C>T	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.661997	0.29515	.	.	ENSG00000179913	ENST00000318683	T	0.27720	1.65	3.76	-1.98	0.07480	.	1.232780	0.05828	U	0.617066	T	0.26412	0.0645	M	0.69185	2.1	0.09310	N	1	P	0.45768	0.866	B	0.35240	0.198	T	0.31138	-0.9954	10	0.42905	T	0.14	.	6.4521	0.21910	0.3322:0.3426:0.3252:0.0	.	60	Q9Y2A9	B3GN3_HUMAN	L	60	ENSP00000321874:P60L	ENSP00000321874:P60L	P	+	2	0	B3GNT3	17779795	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.159000	0.10056	-0.685000	0.05177	-0.534000	0.04291	CCG		0.677	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		8	5	0	0	0	1	0	8	5					T	17918795	C	T	17918795	3	4	435	1	0	0	0	0	1	0	0	0	1258	652	23	2	181	2	B3GNT3	19	17918795	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	24830	17918795	41210188	8116	29041											
B3GNT3	10331	broad.mit.edu	37	chr19	17918927	17918927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcccccctctaagtgcgCgcagccggtcttcctgctgc	3	9	11	18	4	2	0	0	0	2	0	3	0	3	0	5	1	5	2	5	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17918927C>T	ENST00000318683.6	+	2	458	c.311C>T	c.(310-312)gCg>gTg	p.A104V	B3GNT3_ENST00000595387.1_Missense_Mutation_p.A104V	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	104					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TCTAAGTGCGCGCAGCCGGTC	0.662																																						ENST00000318683.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(310-312)gCg>gTg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3							42	35	37					19																	17918927		2203	4300	6503	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17918927C>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"Beta 3-glycosyltransferases"	13528	protein-coding gene	gene with protein product	"putative type II membrane protein", "beta-1,3-N-acetylglucosaminyltransferase bGnT-3", "transmembrane protein 3"	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.311C>T	19.37:g.17918927C>T	ENSP00000321874:p.Ala104Val					B3GNT3_ENST00000595387.1_Missense_Mutation_p.A104V	p.A104V	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN			2	458	+			104					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.311C>T	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	C	8.318	0.823625	0.16678	.	.	ENSG00000179913	ENST00000318683	T	0.28454	1.61	3.76	-1.98	0.07480	.	0.282900	0.31381	U	0.007758	T	0.16385	0.0394	L	0.55213	1.73	0.09310	N	1	P	0.38863	0.65	B	0.30029	0.11	T	0.13764	-1.0497	10	0.49607	T	0.09	.	0.3478	0.00344	0.2053:0.3221:0.201:0.2716	.	104	Q9Y2A9	B3GN3_HUMAN	V	104	ENSP00000321874:A104V	ENSP00000321874:A104V	A	+	2	0	B3GNT3	17779927	0.025000	0.19082	0.033000	0.17914	0.036000	0.12997	1.252000	0.32874	0.100000	0.17581	-0.534000	0.04291	GCG		0.662	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		13	27	0	0	0	1	0	13	27					T	17918927	C	T	17918927	3	4	435	1	0	0	0	0	1	0	0	0	1258	768	27	1	313	1	B3GNT3	19	17918927	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	132	17918927	41210056	8117	29042											
JAK3	3718	broad.mit.edu	37	chr19	17946739	17946739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggagcactcaccagataGttgagggcgtaggccagctg	11	6	15	9	1	1	3	1	1	0	2	1	4	1	4	2	3	2	4	2	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17946739G>A	ENST00000527670.1	-	13	1937	c.1908C>T	c.(1906-1908)aaC>aaT	p.N636N	JAK3_ENST00000458235.1_Silent_p.N636N|JAK3_ENST00000534444.1_Silent_p.N636N|JAK3_ENST00000526008.1_5'Flank			P52333	JAK3_HUMAN	Janus kinase 3	636	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			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					Tofacitinib(DB08895)	TCACCAGATAGTTGAGGGCGT	0.572		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"acute megakaryocytic leukemia, ETP ALL"		0				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						c.(1906-1908)aaC>aaT		Janus kinase 3							83	70	74					19																	17946739		2203	4300	6503	SO:0001819	synonymous_variant	3718				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	g.chr19:17946739G>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1908C>T	19.37:g.17946739G>A						JAK3_ENST00000534444.1_Silent_p.N636N|JAK3_ENST00000527670.1_Silent_p.N636N	p.N636N	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			14	2007	-			636			Protein kinase 1.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.1908C>T	CCDS12366.1																																																																																				0.572	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		8	16	0	0	0	1	0	8	16					A	17946739	G	A	17946739	2	1	435	1	0	0	0	0	0	0	0	1	7939	1020	36	3		3	JAK3	19	17946739	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27812	17946739	41182244	8118	29043											
RPL18A	6142	broad.mit.edu	37	chr19	17973016	17973016	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggacctgaccaccgcaggCgctgtcacccagtgctgtaa	8	6	12	15	3	1	1	1	1	0	0	1	2	1	2	4	2	1	4	4	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17973016C>T	ENST00000222247.5	+	3	393	c.312C>T	c.(310-312)ggC>ggT	p.G104G	RPL18A_ENST00000599898.1_Silent_p.G65G|RPL18A_ENST00000600147.1_Silent_p.G104G|SNORA68_ENST00000384437.1_RNA|RPL18A_ENST00000599870.1_Silent_p.G75G	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	104					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CCACCGCAGGCGCTGTCACCC	0.627																																						ENST00000600147.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						c.(310-312)ggC>ggT		ribosomal protein L18a							58	62	61					19																	17973016		2203	4299	6502	SO:0001819	synonymous_variant	6142				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:17973016C>T	AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"L ribosomal proteins"	10311	protein-coding gene	gene with protein product	"60S ribosomal protein L18a", "ribosomal protein L18a-like protein"	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		ENST00000222247.5:c.312C>T	19.37:g.17973016C>T						RPL18A_ENST00000599870.1_Silent_p.G75G|RPL18A_ENST00000599898.1_Silent_p.G65G|RPL18A_ENST00000222247.5_Silent_p.G104G	p.G104G			Q02543	RL18A_HUMAN			3	348	+			104						Silent	SNP	ENST00000222247.5	37	c.312C>T	CCDS12367.1																																																																																				0.627	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466679.1	NM_000980		6	34	0	0	0	1	0	6	34					T	17973016	C	T	17973016	2	4	435	1	0	0	0	0	0	0	0	1	13565	755	27	1		1	RPL18A	19	17973016	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26277	17973016	41155967	8119	29044											
SLC5A5	6528	broad.mit.edu	37	chr19	17988624	17988624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtatggcgtgaaccaggCgcaggtgcagcgctacgtgg	8	7	16	10	4	0	1	0	1	0	0	0	1	0	1	1	4	4	4	1	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17988624C>T	ENST00000222248.3	+	6	1138	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	264					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTGAACCAGGCGCAGGTGCAG	0.607																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(790-792)gCg>gTg		solute carrier family 5 (sodium/iodide cotransporter), member 5							156	129	138					19																	17988624		2203	4300	6503	SO:0001583	missense	6528				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	g.chr19:17988624C>T		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.791C>T	19.37:g.17988624C>T	ENSP00000222248:p.Ala264Val						p.A264V	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			6	1138	+			264					O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.791C>T	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676509	0.88445	.	.	ENSG00000105641	ENST00000222248	D	0.86097	-2.07	5.3	5.3	0.74995	.	0.111025	0.64402	D	0.000013	D	0.83658	0.5302	L	0.42581	1.335	0.80722	D	1	P	0.47253	0.892	P	0.45681	0.49	D	0.84137	0.0415	10	0.45353	T	0.12	.	16.867	0.86032	0.0:1.0:0.0:0.0	.	264	Q92911	SC5A5_HUMAN	V	264	ENSP00000222248:A264V	ENSP00000222248:A264V	A	+	2	0	SLC5A5	17849624	1.000000	0.71417	0.976000	0.42696	0.417000	0.31264	7.623000	0.83113	2.675000	0.91044	0.555000	0.69702	GCG		0.607	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			16	35	0	0	0	1	0	16	35					T	17988624	C	T	17988624	3	4	435	1	0	0	0	0	1	0	0	0	14668	768	27	1	813	1	SLC5A5	19	17988624	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15608	17988624	41140359	8120	29045											
KCNN1	3780	broad.mit.edu	37	chr19	18092574	18092574	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgccatgacctgcgagcgCgtgttcctcatctcgctaga	7	10	10	14	5	2	2	1	1	1	1	5	3	3	2	3	0	2	2	3	0	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18092574C>T	ENST00000222249.9	+	5	874	c.555C>T	c.(553-555)cgC>cgT	p.R185R		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	185					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CCTGCGAGCGCGTGTTCCTCA	0.662																																						ENST00000601725.1																			0																				31	32	32					19																	18092574		2157	4237	6394	SO:0001819	synonymous_variant	0							g.chr19:18092574C>T	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.555C>T	19.37:g.18092574C>T														0	190	+								Q5KR10|Q6DJU4	RNA	SNP	ENST00000222249.9	37																																																																																						0.662	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		11	20	0	0	0	1	0	11	20					T	18092574	C	T	18092574	2	4	435	1	0	0	0	0	0	0	0	1	8078	755	27	1		1	KCNN1	19	18092574	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	103950	18092574	41036409	8121	29046											
IL12RB1	3594	broad.mit.edu	37	chr19	18193064	18193064	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcaggtccctagggccCgaggccgagcctggaagaga	9	5	14	13	2	1	1	1	0	1	1	3	5	2	2	4	4	1	0	4	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18193064C>T	ENST00000600835.2	-	4	433	c.135G>A	c.(133-135)tcG>tcA	p.S45S	IL12RB1_ENST00000322153.7_Silent_p.S45S|IL12RB1_ENST00000593993.2_Silent_p.S45S			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	45					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCCTAGGGCCCGAGGCCGAGC	0.552																																						ENST00000600835.1																			0				endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(133-135)tcG>tcA		interleukin 12 receptor, beta 1							61	53	56					19																	18193064		2203	4300	6503	SO:0001819	synonymous_variant	0				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	g.chr19:18193064C>T	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.135G>A	19.37:g.18193064C>T						IL12RB1_ENST00000322153.6_Silent_p.S45S|IL12RB1_ENST00000593993.1_Silent_p.S45S|IL12RB1_ENST00000430026.2_Silent_p.S45S	p.S45S			P42701	I12R1_HUMAN			4	438	-			45			Fibronectin type-III 1.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	c.135G>A	CCDS54232.1																																																																																				0.552	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			3	9	0	0	0	1	0	3	9					T	18193064	C	T	18193064	2	4	435	1	0	0	0	0	0	0	0	1	7626	639	23	2		2	IL12RB1	19	18193064	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	100490	18193064	40935919	8122	29047											
MAST3	23031	broad.mit.edu	37	chr19	18254660	18254660	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccatctctcctgaatacCatcagcctggacacaatgcc	11	8	6	16	0	2	1	1	1	1	0	4	2	3	2	5	1	4	0	5	1	3	1	rs4808753		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18254660C>T	ENST00000262811.6	+	21	2340	c.2340C>T	c.(2338-2340)acC>acT	p.T780T	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	780							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCCTGAATACCATCAGCCTGG	0.607																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(2338-2340)acC>acT		microtubule associated serine/threonine kinase 3							38	41	40					19																	18254660		1971	4155	6126	SO:0001819	synonymous_variant	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18254660C>T	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2340C>T	19.37:g.18254660C>T							p.T780T	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			21	2340	+			780					Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	37	c.2340C>T	CCDS46014.1																																																																																				0.607	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		12	17	0	0	0	1	0	12	17					T	18254660	C	T	18254660	2	4	435	1	0	0	0	0	0	0	0	1	9326	581	21	3		3	MAST3	19	18254660	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	61596	18254660	40874323	8123	29048											
MAST3	23031	broad.mit.edu	37	chr19	18260483	18260483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtgccacagatcgccGtggagggcgaggaagccgtg	8	5	16	12	4	1	1	1	0	0	1	2	4	1	3	4	3	2	0	4	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18260483G>A	ENST00000262811.6	+	27	3877	c.3877G>A	c.(3877-3879)Gtg>Atg	p.V1293M	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1293							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						ACAGATCGCCGTGGAGGGCGA	0.622																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(3877-3879)Gtg>Atg		microtubule associated serine/threonine kinase 3							28	31	30					19																	18260483		2055	4183	6238	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18260483G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.3877G>A	19.37:g.18260483G>A	ENSP00000262811:p.Val1293Met					AC007192.6_ENST00000600364.1_RNA	p.V1293M	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			27	3877	+			1293					Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.3877G>A	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858942	0.51376	.	.	ENSG00000099308	ENST00000262811	T	0.69175	-0.38	4.56	3.43	0.39272	.	0.759330	0.11193	N	0.589677	T	0.59088	0.2168	L	0.50333	1.59	0.36055	D	0.841035	D	0.54772	0.968	B	0.39876	0.312	T	0.69146	-0.5222	10	0.52906	T	0.07	-26.2681	11.4033	0.49883	0.0:0.1835:0.8165:0.0	.	1293	O60307	MAST3_HUMAN	M	1293	ENSP00000262811:V1293M	ENSP00000262811:V1293M	V	+	1	0	MAST3	18121483	1.000000	0.71417	0.930000	0.37139	0.424000	0.31475	4.292000	0.59031	2.245000	0.73994	0.313000	0.20887	GTG		0.622	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		11	24	0	0	0	1	0	11	24					A	18260483	G	A	18260483	3	1	435	1	0	0	0	0	1	0	0	0	9326	1145	40	1	3983	1	MAST3	19	18260483	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5823	18260483	40868500	8124	29049											
PIK3R2	5296	broad.mit.edu	37	chr19	18279701	18279701	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggctgctacgcctgctcCgtggtgtgagtggaccgcag	4	8	17	12	4	0	1	0	1	0	0	1	2	1	2	3	4	3	4	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18279701C>T	ENST00000593731.1	+	15	2534	c.1974C>T	c.(1972-1974)tcC>tcT	p.S658S	PIK3R2_ENST00000222254.8_Silent_p.S658S			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	658	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	ACGCCTGCTCCGTGGTGTGAG	0.657																																						ENST00000593731.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(1972-1974)tcC>tcT		phosphoinositide-3-kinase, regulatory subunit 2 (beta)							41	30	33					19																	18279701		2203	4299	6502	SO:0001819	synonymous_variant	5296				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	g.chr19:18279701C>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1974C>T	19.37:g.18279701C>T						PIK3R2_ENST00000222254.7_Silent_p.S658S	p.S658S			O00459	P85B_HUMAN			15	2534	+			658			SH2 2.		Q5EAT5|Q9UPH9	Silent	SNP	ENST00000593731.1	37	c.1974C>T	CCDS12371.1																																																																																				0.657	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		3	3	0	0	0	1	0	3	3					T	18279701	C	T	18279701	2	4	435	1	0	0	0	0	0	0	0	1	11919	639	23	2		2	PIK3R2	19	18279701	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19218	18279701	40849282	8125	29050											
RAB3A	5864	broad.mit.edu	37	chr19	18313528	18313528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggactccttctgcccatagCgcgagtctgtggcggatgcc	6	9	13	13	3	2	0	0	0	2	0	3	3	3	2	3	3	3	0	3	3	1	2	rs367923648		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18313528C>T	ENST00000222256.4	-	2	201	c.23G>A	c.(22-24)cGc>cAc	p.R8H	AC068499.10_ENST00000596473.1_RNA|AC068499.10_ENST00000599416.2_RNA|RAB3A_ENST00000464076.3_Intron|AC068499.10_ENST00000594805.3_RNA	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	8					axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CTGCCCATAGCGCGAGTCTGT	0.587											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222256.4																			0				NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(22-24)cGc>cAc		RAB3A, member RAS oncogene family		C	HIS/ARG	0,4406		0,0,2203	180	153	162		23	4.4	1	19		162	1,8599	1.2+/-3.3	0,1,4299	no	missense	RAB3A	NM_002866.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	8/221	18313528	1,13005	2203	4300	6503	SO:0001583	missense	5864				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	g.chr19:18313528C>T		CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649		"RAB, member RAS oncogene"	9777	protein-coding gene	gene with protein product	"RAS-associated protein RAB3A"	179490				2687157, 7532276	Standard	NM_002866		Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.23G>A	19.37:g.18313528C>T	ENSP00000222256:p.Arg8His		OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	724	RAB3A_ENST00000464076.2_Intron	p.R8H	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN			2	201	-			8					A8K0J4|Q9NYE1	Missense_Mutation	SNP	ENST00000222256.4	37	c.23G>A	CCDS12372.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352930	0.61293	0.0	1.16E-4	ENSG00000105649	ENST00000222256	T	0.65549	-0.16	4.4	4.4	0.53042	.	0.085243	0.56097	D	0.000028	T	0.46268	0.1384	N	0.14661	0.345	0.58432	D	0.999994	B	0.06786	0.001	B	0.06405	0.002	T	0.46303	-0.9201	10	0.62326	D	0.03	-14.4127	14.4727	0.67526	0.0:1.0:0.0:0.0	.	8	P20336	RAB3A_HUMAN	H	8	ENSP00000222256:R8H	ENSP00000222256:R8H	R	-	2	0	RAB3A	18174528	1.000000	0.71417	0.982000	0.44146	0.731000	0.41821	6.144000	0.71762	1.996000	0.58369	0.313000	0.20887	CGC		0.587	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268056.2	NM_002866		19	90	0	0	0	1	0	19	90					T	18313528	C	T	18313528	3	4	435	1	0	0	0	0	1	0	0	0	12931	768	27	1	655	1	RAB3A	19	18313528	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33827	18313528	40815455	8126	29051											
KIAA1683	80726	broad.mit.edu	37	chr19	18375974	18375974	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttggcccagggtggggcGctgaggccaccgaggcgctg	4	5	20	12	3	0	1	0	1	0	0	0	2	0	1	3	7	0	3	3	7	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18375974G>A	ENST00000600328.3	-	3	2569	c.2376C>T	c.(2374-2376)agC>agT	p.S792S	KIAA1683_ENST00000600359.3_Silent_p.S746S|KIAA1683_ENST00000392413.4_Silent_p.S792S			Q9H0B3	K1683_HUMAN	KIAA1683	792						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGGGTGGGGCGCTGAGGCCAC	0.682																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2374-2376)agC>agT		KIAA1683							86	90	89					19																	18375974		2203	4299	6502	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18375974G>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2376C>T	19.37:g.18375974G>A						KIAA1683_ENST00000600359.2_Silent_p.S746S|KIAA1683_ENST00000600328.2_Silent_p.S792S	p.S792S	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			3	2591	-			792					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.2376C>T	CCDS32958.1																																																																																				0.682	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			44	72	0	0	0	1	0	44	72					A	18375974	G	A	18375974	2	1	435	1	0	0	0	0	0	0	0	1	8251	1078	38	1		1	KIAA1683	19	18375974	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62446	18375974	40753009	8127	29052											
SSBP4	170463	broad.mit.edu	37	chr19	18538785	18538785	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgaggccaaggccttccAggactatgtgagtcctggcc	7	7	14	13	2	0	1	0	1	0	0	2	3	2	2	5	5	0	0	5	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18538785A>G	ENST00000270061.7	+	4	566	c.272A>G	c.(271-273)cAg>cGg	p.Q91R	SSBP4_ENST00000598159.2_3'UTR|SSBP4_ENST00000348495.6_Missense_Mutation_p.Q91R	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	91						nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						AAGGCCTTCCAGGACTATGTG	0.682																																						ENST00000270061.6																			0				endometrium(2)|kidney(1)|skin(1)	4						c.(271-273)cAg>cGg		single stranded DNA binding protein 4							32	34	34					19																	18538785		2202	4299	6501	SO:0001583	missense	170463					nucleus	single-stranded DNA binding	g.chr19:18538785A>G		CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.272A>G	19.37:g.18538785A>G	ENSP00000270061:p.Gln91Arg					SSBP4_ENST00000348495.5_Missense_Mutation_p.Q91R	p.Q91R	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN			4	492	+			91					Q9BWW5	Missense_Mutation	SNP	ENST00000270061.7	37	c.272A>G	CCDS12378.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.702951	0.68501	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	3.67	3.67	0.42095	.	0.078014	0.51477	U	0.000099	T	0.53174	0.1780	L	0.43152	1.355	0.38641	D	0.951604	B;P	0.37731	0.425;0.607	B;B	0.43155	0.232;0.41	T	0.61342	-0.7082	9	0.72032	D	0.01	-14.9598	10.3247	0.43785	1.0:0.0:0.0:0.0	.	91;91	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	R	91	.	ENSP00000270061:Q91R	Q	+	2	0	SSBP4	18399785	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	5.232000	0.65332	1.524000	0.49035	0.379000	0.24179	CAG		0.682	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	NM_032627		16	17	0	0	0	1	0	16	17					G	18538785	A	G	18538785	3	3	435	1	0	0	0	0	1	0	0	0	15181	188	7	4	286	4	SSBP4	19	18538785	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	162811	18538785	40590198	8128	29053											
CRLF1	9244	broad.mit.edu	37	chr19	18709605	18709605	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttgtacttgagggagtaGttggtgtggaggaaggtctc	8	12	17	4	0	1	1	0	1	1	0	2	4	1	4	0	5	2	4	0	5	3	5	rs376052792		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18709605G>A	ENST00000392386.3	-	3	697	c.504C>T	c.(502-504)aaC>aaT	p.N168N		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	168	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TGAGGGAGTAGTTGGTGTGGA	0.602																																						ENST00000392386.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(502-504)aaC>aaT		cytokine receptor-like factor 1							120	91	101					19																	18709605		2203	4300	6503	SO:0001819	synonymous_variant	9244				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	g.chr19:18709605G>A	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"Fibronectin type III domain containing"	2364	protein-coding gene	gene with protein product	"cold-induced sweating syndrome"	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.504C>T	19.37:g.18709605G>A							p.N168N	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN			3	697	-			168			Fibronectin type-III 1.		Q9UHH5	Silent	SNP	ENST00000392386.3	37	c.504C>T	CCDS32962.1																																																																																				0.602	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			8	17	0	0	0	1	0	8	17					A	18709605	G	A	18709605	2	1	435	1	0	0	0	0	0	0	0	1	3886	1020	36	3		3	CRLF1	19	18709605	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	170820	18709605	40419378	8129	29054											
KLHL26	55295	broad.mit.edu	37	chr19	18778931	18778931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcatgacccggcccggcggCcgcgcgccagccacgtgctc	5	3	14	19	7	0	1	0	1	0	0	1	1	0	1	5	3	3	2	5	3	0	0	rs544827583		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18778931C>T	ENST00000300976.4	+	3	814	c.724C>T	c.(724-726)Ccg>Tcg	p.P242S	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	242	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						ggcccggcggccgcgcgccAG	0.677																																						ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(724-726)Ccg>Tcg		kelch-like family member 26							15	17	16					19																	18778931		2152	4213	6365	SO:0001583	missense	55295							g.chr19:18778931C>T		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.724C>T	19.37:g.18778931C>T	ENSP00000300976:p.Pro242Ser					KLHL26_ENST00000599006.1_Intron	p.P242S	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			3	814	+			242			BACK.		Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.724C>T	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	C	4.364	0.066983	0.08388	.	.	ENSG00000167487	ENST00000300976	T	0.67523	-0.27	5.04	3.98	0.46160	BTB/Kelch-associated (2);	0.424017	0.26293	N	0.025210	T	0.40094	0.1103	N	0.02802	-0.49	0.25610	N	0.986506	B	0.06786	0.001	B	0.04013	0.001	T	0.14227	-1.0480	9	.	.	.	.	13.4896	0.61386	0.0:0.5317:0.4683:0.0	.	242	Q53HC5	KLH26_HUMAN	S	242	ENSP00000300976:P242S	.	P	+	1	0	KLHL26	18639931	0.122000	0.22280	0.505000	0.27651	0.904000	0.53231	2.587000	0.46128	1.076000	0.40961	0.591000	0.81541	CCG		0.677	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		8	11	0	0	0	1	0	8	11					T	18778931	C	T	18778931	3	4	435	1	0	0	0	0	1	0	0	0	8381	739	26	3	734	3	KLHL26	19	18778931	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	69326	18778931	40350052	8130	29055											
KLHL26	55295	broad.mit.edu	37	chr19	18779107	18779107	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacgagatgcagtctccGcgcaccgccgtgcgctcgga	7	5	13	16	7	1	1	0	0	1	1	3	3	1	2	3	1	3	4	3	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18779107G>A	ENST00000300976.4	+	3	990	c.900G>A	c.(898-900)ccG>ccA	p.P300P	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	300										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGCAGTCTCCGCGCACCGCCG	0.662																																						ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(898-900)ccG>ccA		kelch-like family member 26							43	46	45					19																	18779107		2193	4274	6467	SO:0001819	synonymous_variant	55295							g.chr19:18779107G>A		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.900G>A	19.37:g.18779107G>A						KLHL26_ENST00000599006.1_Intron	p.P300P	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			3	990	+			300					Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	37	c.900G>A	CCDS12384.1																																																																																				0.662	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		16	14	0	0	0	1	0	16	14					A	18779107	G	A	18779107	2	1	435	1	0	0	0	0	0	0	0	1	8381	1074	38	1		1	KLHL26	19	18779107	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	176	18779107	40349876	8131	29056											
CRTC1	23373	broad.mit.edu	37	chr19	18879581	18879581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagaaccctggccagccatCgatggggatcgacatcgcct	10	6	12	13	3	0	1	0	0	0	1	3	5	0	2	4	3	2	0	4	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18879581C>T	ENST00000321949.8	+	10	1324	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	CRTC1_ENST00000594658.1_Missense_Mutation_p.S392L|CRTC1_ENST00000338797.6_Missense_Mutation_p.S449L|CRTC1_ENST00000601916.1_Intron	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GGCCAGCCATCGATGGGGATC	0.697																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(1345-1347)tCg>tTg		CREB regulated transcription coactivator 1							16	17	17					19																	18879581		2199	4296	6495	SO:0001583	missense	23373				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	g.chr19:18879581C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1298C>T	19.37:g.18879581C>T	ENSP00000323332:p.Ser433Leu					CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000321949.8_Missense_Mutation_p.S433L|CRTC1_ENST00000594658.1_Missense_Mutation_p.S392L	p.S449L	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			11	1371	+			433						Missense_Mutation	SNP	ENST00000321949.8	37	c.1346C>T	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542844	0.27563	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.18016	2.24;2.24	4.17	4.17	0.49024	.	0.829323	0.11110	N	0.598729	T	0.14743	0.0356	L	0.40543	1.245	0.09310	N	1	B;B;B	0.31680	0.335;0.144;0.217	B;B;B	0.26614	0.062;0.071;0.038	T	0.13872	-1.0493	10	0.11182	T	0.66	-7.586	15.8214	0.78648	0.0:1.0:0.0:0.0	.	433;449;433	Q6UUV9-3;Q6UUV9-2;Q6UUV9	.;.;CRTC1_HUMAN	L	433;449;433	ENSP00000345001:S449L;ENSP00000323332:S433L	ENSP00000262813:S433L	S	+	2	0	CRTC1	18740581	0.169000	0.23002	0.061000	0.19648	0.841000	0.47740	3.049000	0.49869	2.045000	0.60652	0.591000	0.81541	TCG		0.697	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		6	1	0	0	0	1	0	6	1					T	18879581	C	T	18879581	3	4	435	1	0	0	0	0	1	0	0	0	3899	893	31	2	1388	2	CRTC1	19	18879581	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	100474	18879581	40249402	8132	29057											
COMP	1311	broad.mit.edu	37	chr19	18896317	18896317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcttctcacccacagccaGgcctgggtcgctgttcattg	5	10	10	16	2	2	0	2	0	1	0	4	0	2	0	4	2	1	3	4	2	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18896317G>T	ENST00000222271.2	-	15	1752	c.1708C>A	c.(1708-1710)Ctg>Atg	p.L570M	COMP_ENST00000425807.1_Missense_Mutation_p.L517M|COMP_ENST00000542601.2_Missense_Mutation_p.L537M	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	570	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCCACAGCCAGGCCTGGGTCG	0.667																																						ENST00000542601.2																			0				breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1609-1611)Ctg>Atg		cartilage oligomeric matrix protein							78	80	79					19																	18896317		2203	4300	6503	SO:0001583	missense	1311				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	g.chr19:18896317G>T	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"thrombospondin-5"	600310	"cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1708C>A	19.37:g.18896317G>T	ENSP00000222271:p.Leu570Met					COMP_ENST00000425807.1_Missense_Mutation_p.L517M|COMP_ENST00000222271.2_Missense_Mutation_p.L570M	p.L537M			P49747	COMP_HUMAN			14	1998	-			570			Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	ENST00000222271.2	37	c.1609C>A	CCDS12385.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841874	0.71488	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.97089	-4.24;-4.24;-4.24	4.6	4.6	0.57074	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.56097	U	0.000027	D	0.97810	0.9281	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.987;1.0	D	0.97969	1.0342	10	0.66056	D	0.02	-23.9131	10.7106	0.45982	0.0963:0.0:0.9037:0.0	.	517;570	B4DKJ3;P49747	.;COMP_HUMAN	M	537;570;517;557	ENSP00000439156:L537M;ENSP00000222271:L570M;ENSP00000403792:L517M	ENSP00000222271:L570M	L	-	1	2	COMP	18757317	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.952000	0.49097	2.102000	0.63906	0.484000	0.47621	CTG		0.667	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		32	33	1	0	6.53348e-20	1	7.23485e-20	32	33					T	18896317	G	T	18896317	3	4	435	1	0	0	0	0	1	0	0	0	3724	991	35	5	585	5	COMP	19	18896317	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16736	18896317	40232666	8133	29058											
UPF1	5976	broad.mit.edu	37	chr19	18964097	18964097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggatgagatatgcctgcGgtacaaaggggaccttgcgc	9	7	17	8	2	0	1	0	1	0	1	0	4	0	3	2	5	4	1	2	5	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18964097G>A	ENST00000599848.1	+	8	1336	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q	UPF1_ENST00000262803.5_Missense_Mutation_p.R365Q			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	376	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			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						ATATGCCTGCGGTACAAAGGG	0.572																																						ENST00000262803.5																			0				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						c.(1093-1095)cGg>cAg		UPF1 regulator of nonsense transcripts homolog (yeast)							65	59	61					19																	18964097		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18964097G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1127G>A	19.37:g.18964097G>A	ENSP00000470142:p.Arg376Gln					UPF1_ENST00000599848.1_Missense_Mutation_p.R376Q	p.R365Q	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			8	1366	+			376			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.1094G>A		.	.	.	.	.	.	.	.	.	.	G	19.43	3.826316	0.71143	.	.	ENSG00000005007	ENST00000262803	D	0.90504	-2.68	4.59	3.55	0.40652	.	0.061492	0.64402	D	0.000007	D	0.88633	0.6489	M	0.78049	2.395	0.58432	D	0.999999	P;P	0.40180	0.581;0.705	B;B	0.33568	0.054;0.166	D	0.88375	0.2997	10	0.72032	D	0.01	-47.8306	11.8789	0.52562	0.0866:0.0:0.9134:0.0	.	376;365	Q92900;Q92900-2	RENT1_HUMAN;.	Q	365	ENSP00000262803:R365Q	ENSP00000262803:R365Q	R	+	2	0	UPF1	18825097	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.374000	0.97172	1.056000	0.40484	0.609000	0.83330	CGG		0.572	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		12	30	0	0	0	1	0	12	30					A	18964097	G	A	18964097	3	1	435	1	0	0	0	0	1	0	0	0	17000	1116	39	2	1124	2	UPF1	19	18964097	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	67780	18964097	40164886	8134	29059											
UPF1	5976	broad.mit.edu	37	chr19	18971713	18971713	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggaccagattggcatcatCacgccctacgagggccagcg	9	5	12	15	4	2	1	2	0	0	1	2	3	2	2	4	3	2	1	4	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18971713C>T	ENST00000599848.1	+	17	2621	c.2412C>T	c.(2410-2412)atC>atT	p.I804I	UPF1_ENST00000262803.5_Silent_p.I793I			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	804					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			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						TTGGCATCATCACGCCCTACG	0.617																																						ENST00000262803.5																			0				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						c.(2377-2379)atC>atT		UPF1 regulator of nonsense transcripts homolog (yeast)							68	45	53					19																	18971713		2195	4300	6495	SO:0001819	synonymous_variant	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18971713C>T	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2412C>T	19.37:g.18971713C>T						UPF1_ENST00000599848.1_Silent_p.I804I	p.I793I	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			17	2651	+			804					O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37	c.2379C>T																																																																																					0.617	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		6	11	0	0	0	1	0	6	11					T	18971713	C	T	18971713	2	4	435	1	0	0	0	0	0	0	0	1	17000	816	29	3		3	UPF1	19	18971713	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7616	18971713	40157270	8135	29060											
UPF1	5976	broad.mit.edu	37	chr19	18976954	18976954	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccagcatggcggggtgacGgggctgtcccagtattaaaa	10	8	14	9	2	0	1	0	1	0	0	1	1	1	1	2	5	2	3	2	5	4	3	rs561916655		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18976954G>A	ENST00000599848.1	+	23	3581	c.3372G>A	c.(3370-3372)acG>acA	p.T1124T	UPF1_ENST00000262803.5_Silent_p.T1113T			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1124	Gln/Ser-rich.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			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						GCGGGGTGACGGGGCTGTCCC	0.617													g|||	1	0.000199681	8e-04	0	5008	,	,		16396	0		0	False		,,,				2504	0					ENST00000262803.5																			0				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						c.(3337-3339)acG>acA		UPF1 regulator of nonsense transcripts homolog (yeast)							35	31	32					19																	18976954		2203	4300	6503	SO:0001819	synonymous_variant	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18976954G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.3372G>A	19.37:g.18976954G>A						UPF1_ENST00000599848.1_Silent_p.T1124T	p.T1113T	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			23	3611	+			1124			Gln/Ser-rich.		O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37	c.3339G>A																																																																																					0.617	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		8	32	0	0	0	1	0	8	32					A	18976954	G	A	18976954	2	1	435	1	0	0	0	0	0	0	0	1	17000	1103	39	2		2	UPF1	19	18976954	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5241	18976954	40152029	8136	29061											
SFRS14	10147	broad.mit.edu	37	chr19	19136509	19136509	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcctggtcaacgatgttTagagctcgacctctggcctg	6	12	10	13	2	2	1	1	0	1	1	4	3	3	1	4	2	2	2	4	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19136509T>C	ENST00000601879.1	-	3	945	c.648A>G	c.(646-648)ctA>ctG	p.L216L	SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000452918.2_Silent_p.L216L|SUGP2_ENST00000600377.1_Silent_p.L230L|SUGP2_ENST00000337018.6_Silent_p.L216L|SUGP2_ENST00000598202.1_5'UTR			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	216					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAACGATGTTTAGAGCTCGAC	0.557																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(646-648)ctA>ctG		SURP and G patch domain containing 2							85	75	79					19																	19136509		2203	4300	6503	SO:0001819	synonymous_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19136509T>C	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"G patch domain containing"	18641	protein-coding gene	gene with protein product		607993	"splicing factor, arginine/serine-rich 14"	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.648A>G	19.37:g.19136509T>C						SUGP2_ENST00000337018.6_Silent_p.L216L|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000452918.2_Silent_p.L216L|SUGP2_ENST00000600377.1_Silent_p.L230L	p.L216L			Q8IX01	SUGP2_HUMAN			3	945	-			216					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	ENST00000601879.1	37	c.648A>G	CCDS12392.1																																																																																				0.557	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		23	43	0	0	0	1	0	23	43					C	19136509	T	C	19136509	2	2	435	1	0	0	0	0	0	0	0	1	14170	1741	61	4		4	SFRS14	19	19136509	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	159555	19136509	39992474	8137	29062											
ARMC6	93436	broad.mit.edu	37	chr19	19154809	19154809	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacccccaacaggggttgatCtgagcaacattgtaaagacg	13	7	10	11	1	1	3	0	2	1	1	1	3	1	3	2	2	3	3	2	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19154809C>T	ENST00000535612.1	+	4	637	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	ARMC6_ENST00000546344.1_Intron|ARMC6_ENST00000269932.6_Silent_p.L44L|ARMC6_ENST00000392336.3_Silent_p.L69L|ARMC6_ENST00000392335.2_Silent_p.L44L	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	69					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			AGGGGTTGATCTGAGCAACAT	0.572																																						ENST00000535612.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(205-207)Ctg>Ttg		armadillo repeat containing 6							92	81	85					19																	19154809		2203	4300	6503	SO:0001819	synonymous_variant	93436						protein binding	g.chr19:19154809C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"Armadillo repeat containing"	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.205C>T	19.37:g.19154809C>T						ARMC6_ENST00000546344.1_Intron|ARMC6_ENST00000392335.2_Silent_p.L44L|ARMC6_ENST00000269932.6_Silent_p.L44L|ARMC6_ENST00000392336.3_Silent_p.L69L	p.L69L	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		4	637	+			69					B4DI98|O94999|Q9BTH5	Silent	SNP	ENST00000535612.1	37	c.205C>T	CCDS56089.1																																																																																				0.572	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		14	28	0	0	0	1	0	14	28					T	19154809	C	T	19154809	2	4	435	1	0	0	0	0	0	0	0	1	955	912	32	3		3	ARMC6	19	19154809	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18300	19154809	39974174	8138	29063											
ARMC6	93436	broad.mit.edu	37	chr19	19162543	19162543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggcctgccgcttcctcgCggcccagaagggggcctacc	6	5	13	17	3	0	1	0	0	0	1	2	1	1	1	6	4	2	1	6	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19162543C>T	ENST00000535612.1	+	5	824	c.392C>T	c.(391-393)gCg>gTg	p.A131V	ARMC6_ENST00000546344.1_Missense_Mutation_p.A38V|ARMC6_ENST00000269932.6_Missense_Mutation_p.A106V|ARMC6_ENST00000392336.3_Missense_Mutation_p.A131V|ARMC6_ENST00000392335.2_Missense_Mutation_p.A106V	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	131					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CGCTTCCTCGCGGCCCAGAAG	0.642																																						ENST00000535612.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(391-393)gCg>gTg		armadillo repeat containing 6							63	59	61					19																	19162543		2203	4300	6503	SO:0001583	missense	93436						protein binding	g.chr19:19162543C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"Armadillo repeat containing"	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.392C>T	19.37:g.19162543C>T	ENSP00000444156:p.Ala131Val					ARMC6_ENST00000546344.1_Missense_Mutation_p.A38V|ARMC6_ENST00000392335.2_Missense_Mutation_p.A106V|ARMC6_ENST00000269932.6_Missense_Mutation_p.A106V|ARMC6_ENST00000392336.3_Missense_Mutation_p.A131V	p.A131V	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		5	824	+			131					B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	c.392C>T	CCDS56089.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071449	0.93950	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000537263;ENST00000541725;ENST00000269932;ENST00000546344;ENST00000540792;ENST00000541898;ENST00000535288;ENST00000379532;ENST00000392336	T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67534	0.2903	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.69731	-0.5066	10	0.41790	T	0.15	-11.6127	17.466	0.87632	0.0:1.0:0.0:0.0	.	131	Q6NXE6	ARMC6_HUMAN	V	106;131;106;131;106;38;106;106;38;42;131	ENSP00000376147:A106V;ENSP00000444156:A131V;ENSP00000441948:A106V;ENSP00000269932:A106V;ENSP00000444341:A38V;ENSP00000446037:A106V;ENSP00000437580:A38V;ENSP00000376148:A131V	ENSP00000269932:A106V	A	+	2	0	ARMC6	19023543	1.000000	0.71417	0.981000	0.43875	0.829000	0.46940	7.095000	0.76952	2.351000	0.79841	0.462000	0.41574	GCG		0.642	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		14	20	0	0	0	1	0	14	20					T	19162543	C	T	19162543	3	4	435	1	0	0	0	0	1	0	0	0	955	768	27	1	327	1	ARMC6	19	19162543	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7734	19162543	39966440	8139	29064											
ARMC6	93436	broad.mit.edu	37	chr19	19162890	19162890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaagcctgctgggccctgCgtgtcatgaccttcgatgac	6	9	14	12	2	1	2	1	2	0	0	2	4	1	3	3	2	3	1	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19162890C>T	ENST00000535612.1	+	5	1171	c.739C>T	c.(739-741)Cgt>Tgt	p.R247C	ARMC6_ENST00000546344.1_Missense_Mutation_p.R154C|ARMC6_ENST00000269932.6_Missense_Mutation_p.R222C|ARMC6_ENST00000392336.3_Missense_Mutation_p.R247C|ARMC6_ENST00000392335.2_Missense_Mutation_p.R222C	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	247					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CTGGGCCCTGCGTGTCATGAC	0.577																																						ENST00000535612.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(739-741)Cgt>Tgt		armadillo repeat containing 6							97	53	68					19																	19162890		2203	4300	6503	SO:0001583	missense	93436						protein binding	g.chr19:19162890C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"Armadillo repeat containing"	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.739C>T	19.37:g.19162890C>T	ENSP00000444156:p.Arg247Cys					ARMC6_ENST00000546344.1_Missense_Mutation_p.R154C|ARMC6_ENST00000392335.2_Missense_Mutation_p.R222C|ARMC6_ENST00000269932.6_Missense_Mutation_p.R222C|ARMC6_ENST00000392336.3_Missense_Mutation_p.R247C	p.R247C	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		5	1171	+			247					B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	c.739C>T	CCDS56089.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297244	0.60086	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000537263;ENST00000269932;ENST00000546344;ENST00000541898;ENST00000535288;ENST00000545190;ENST00000379532;ENST00000392336	T;T;T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	5.32	4.21	0.49690	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82683	0.5090	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83718	0.0191	10	0.51188	T	0.08	-37.304	14.6963	0.69124	0.2259:0.7741:0.0:0.0	.	247	Q6NXE6	ARMC6_HUMAN	C	222;247;222;222;154;222;154;158;158;247	ENSP00000376147:R222C;ENSP00000444156:R247C;ENSP00000441948:R222C;ENSP00000269932:R222C;ENSP00000444341:R154C;ENSP00000446037:R222C;ENSP00000437580:R154C;ENSP00000376148:R247C	ENSP00000269932:R222C	R	+	1	0	ARMC6	19023890	0.666000	0.27475	0.970000	0.41538	0.664000	0.39144	1.030000	0.30153	2.492000	0.84095	0.561000	0.74099	CGT		0.577	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		11	20	0	0	0	1	0	11	20					T	19162890	C	T	19162890	3	4	435	1	0	0	0	0	1	0	0	0	955	768	27	1	674	1	ARMC6	19	19162890	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	347	19162890	39966093	8140	29065											
TMEM161A	54929	broad.mit.edu	37	chr19	19231627	19231627	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaggatgagcggcgtcaggTactgcaagctcaccacggtc	9	7	14	11	3	2	2	2	2	0	0	3	3	2	3	1	4	4	3	1	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19231627T>C	ENST00000162044.9	-	11	1197	c.1133A>G	c.(1132-1134)tAc>tGc	p.Y378C	TMEM161A_ENST00000450333.2_Missense_Mutation_p.Y275C|TMEM161A_ENST00000587583.2_Missense_Mutation_p.Y353C	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	378					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CGGCGTCAGGTACTGCAAGCT	0.617																																						ENST00000450333.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(823-825)tAc>tGc		transmembrane protein 161A							103	85	91					19																	19231627		2203	4300	6503	SO:0001583	missense	54929				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		g.chr19:19231627T>C	BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.1133A>G	19.37:g.19231627T>C	ENSP00000162044:p.Tyr378Cys					TMEM161A_ENST00000587583.2_Missense_Mutation_p.Y353C|TMEM161A_ENST00000162044.9_Missense_Mutation_p.Y378C	p.Y275C	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		9	861	-			378					B3KUE0|G5E9M6|Q7L2Y1	Missense_Mutation	SNP	ENST00000162044.9	37	c.824A>G	CCDS12393.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.040679	0.75732	.	.	ENSG00000064545	ENST00000450333;ENST00000162044	.	.	.	4.72	3.67	0.42095	.	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.77560	-0.2542	9	0.87932	D	0	-15.2668	9.5593	0.39360	0.0:0.0:0.1775:0.8225	.	275;275;378	G5E9M6;B3KUE0;Q9NX61	.;.;T161A_HUMAN	C	275;378	.	ENSP00000162044:Y378C	Y	-	2	0	TMEM161A	19092627	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.725000	0.74752	0.621000	0.30232	0.402000	0.26972	TAC		0.617	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814		12	29	0	0	0	1	0	12	29					C	19231627	T	C	19231627	3	2	435	1	0	0	0	0	1	0	0	0	16073	1638	57	4	314	4	TMEM161A	19	19231627	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	68737	19231627	39897356	8141	29066											
NR2C2AP	126382	broad.mit.edu	37	chr19	19313664	19313664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttttccaaactgccgaGtgttgcgattcagcactgaa	9	14	9	9	2	1	1	1	1	0	0	2	3	2	1	2	0	4	3	2	0	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19313664G>A	ENST00000331552.7	-	2	428	c.65C>T	c.(64-66)aCt>aTt	p.T22I	NR2C2AP_ENST00000420605.3_Missense_Mutation_p.T22I|NR2C2AP_ENST00000544883.1_Missense_Mutation_p.T22I|NR2C2AP_ENST00000538165.2_Missense_Mutation_p.T22I	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	22					cell adhesion (GO:0007155)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			AAACTGCCGAGTGTTGCGATT	0.582																																						ENST00000331552.6																			0				breast(1)|cervix(1)|kidney(2)|ovary(1)	5						c.(64-66)aCt>aTt		nuclear receptor 2C2-associated protein							104	97	99					19																	19313664		2203	4300	6503	SO:0001583	missense	126382				cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm		g.chr19:19313664G>A	AY101377	CCDS32967.1, CCDS74316.1	19p13.11	2008-01-10				ENSG00000184162			30763	protein-coding gene	gene with protein product	"TR4 orphan receptor associated protein TRA16"	608719				12486131	Standard	XM_005259740		Approved	TRA16	uc002nlx.3	Q86WQ0		ENST00000331552.7:c.65C>T	19.37:g.19313664G>A	ENSP00000332823:p.Thr22Ile					NR2C2AP_ENST00000590907.2_Intron|NR2C2AP_ENST00000538165.2_Missense_Mutation_p.T22I|NR2C2AP_ENST00000544883.1_Missense_Mutation_p.T22I|NR2C2AP_ENST00000420605.2_Missense_Mutation_p.T22I	p.T22I	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	Epithelial(12;0.00235)		2	428	-			22					A6NGP7|B4DW92	Missense_Mutation	SNP	ENST00000331552.7	37	c.65C>T	CCDS32967.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198566	0.38806	.	.	ENSG00000184162	ENST00000331552;ENST00000420605;ENST00000544883	D;D	0.98329	-4.87;-4.87	4.08	-1.14	0.09741	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.392191	0.24730	N	0.036075	D	0.91630	0.7355	N	0.20685	0.6	0.20926	N	0.99983	B;B	0.30146	0.27;0.032	B;B	0.24541	0.054;0.019	D	0.85662	0.1289	10	0.23891	T	0.37	-11.2965	2.2316	0.03998	0.1205:0.3836:0.314:0.1819	.	22;22	B4DW92;Q86WQ0	.;NR2CA_HUMAN	I	22	ENSP00000332823:T22I;ENSP00000402756:T22I	ENSP00000332823:T22I	T	-	2	0	NR2C2AP	19174664	0.966000	0.33281	0.102000	0.21198	0.920000	0.55202	1.868000	0.39509	0.026000	0.15269	0.462000	0.41574	ACT		0.582	NR2C2AP-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402936.4	NM_176880		21	34	0	0	0	1	0	21	34					A	19313664	G	A	19313664	3	1	435	1	0	0	0	0	1	0	0	0	10624	1029	36	3	370	3	NR2C2AP	19	19313664	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	82037	19313664	39815319	8142	29067											
NCAN	1463	broad.mit.edu	37	chr19	19329842	19329842	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtctctttaccctgcaGccacggccaagcgcagcccg	6	7	9	19	3	1	0	0	0	1	0	2	0	1	0	5	1	5	2	5	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19329842G>A	ENST00000252575.6	+	3	291	c.192G>A	c.(190-192)caG>caA	p.Q64Q		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	64	Ig-like V-type.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			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)		Hyaluronan(DB08818)	TTACCCTGCAGCCACGGCCAA	0.662																																						ENST00000252575.5																			0				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						c.(190-192)caG>caA		neurocan							36	36	36					19																	19329842		2203	4300	6503	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19329842G>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.192G>A	19.37:g.19329842G>A							p.Q64Q	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		3	235	+			64			Ig-like V-type.		Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.192G>A	CCDS12397.1																																																																																				0.662	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		11	12	0	0	0	1	0	11	12					A	19329842	G	A	19329842	2	1	435	1	0	0	0	0	0	0	0	1	10204	962	34	3		3	NCAN	19	19329842	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16178	19329842	39799141	8143	29068											
NCAN	1463	broad.mit.edu	37	chr19	19339180	19339180	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggagcttcagtgcctccGcatcagagcagtcccctagg	8	8	11	14	1	3	1	3	0	0	1	5	2	5	2	4	2	3	3	4	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19339180G>A	ENST00000252575.6	+	8	2850	c.2751G>A	c.(2749-2751)ccG>ccA	p.P917P	NCAN_ENST00000538881.1_Silent_p.P368P	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	917					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			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)		Hyaluronan(DB08818)	CAGTGCCTCCGCATCAGAGCA	0.617																																						ENST00000252575.5																			0				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						c.(2749-2751)ccG>ccA		neurocan							88	88	88					19																	19339180		2203	4300	6503	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19339180G>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2751G>A	19.37:g.19339180G>A						NCAN_ENST00000538881.1_Silent_p.P368P	p.P917P	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2794	+			917					Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.2751G>A	CCDS12397.1																																																																																				0.617	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		24	55	0	0	0	1	0	24	55					A	19339180	G	A	19339180	2	1	435	1	0	0	0	0	0	0	0	1	10204	1074	38	1		1	NCAN	19	19339180	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9338	19339180	39789803	8144	29069											
NCAN	1463	broad.mit.edu	37	chr19	19349134	19349134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattttgcccaccggagggCatgggaagatgccgagaagg	10	7	15	9	2	0	2	0	0	0	2	0	5	0	4	3	4	2	1	3	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19349134C>T	ENST00000252575.6	+	11	3422	c.3323C>T	c.(3322-3324)gCa>gTa	p.A1108V	NCAN_ENST00000538881.1_Missense_Mutation_p.A559V	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1108	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			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)		Hyaluronan(DB08818)	CACCGGAGGGCATGGGAAGAT	0.627																																						ENST00000252575.5																			0				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						c.(3322-3324)gCa>gTa		neurocan							50	56	54					19																	19349134		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19349134C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3323C>T	19.37:g.19349134C>T	ENSP00000252575:p.Ala1108Val					NCAN_ENST00000538881.1_Missense_Mutation_p.A559V	p.A1108V	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		11	3366	+			1108			C-type lectin.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.3323C>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166393	0.94768	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	T;T	0.17213	2.29;2.29	4.75	4.75	0.60458	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.195287	0.25503	N	0.030221	T	0.32912	0.0845	L	0.41492	1.28	0.41659	D	0.989172	D;D	0.76494	0.999;0.989	D;P	0.72982	0.979;0.871	T	0.03969	-1.0988	10	0.66056	D	0.02	.	15.3064	0.73995	0.0:1.0:0.0:0.0	.	1122;1108	Q4LE67;O14594	.;NCAN_HUMAN	V	1122;1108;559	ENSP00000252575:A1108V;ENSP00000442202:A559V	ENSP00000252575:A1108V	A	+	2	0	NCAN	19210134	1.000000	0.71417	0.950000	0.38849	0.930000	0.56654	4.477000	0.60223	2.464000	0.83262	0.561000	0.74099	GCA		0.627	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		22	24	0	0	0	1	0	22	24					T	19349134	C	T	19349134	3	4	435	1	0	0	0	0	1	0	0	0	10204	710	25	3	3361	3	NCAN	19	19349134	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9954	19349134	39779849	8145	29070											
HAPLN4	404037	broad.mit.edu	37	chr19	19371687	19371687	+	Missense_Mutation	SNP	C	C	T																															tggtgacttcgcactcatagCgcccgtagtcttgcagcgtg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19371687C>T	ENST00000291481.7	-	3	482	c.419G>A	c.(418-420)cGc>cAc	p.R140H	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	140	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	GCACTCATAGCGCCCGTAGTC	0.627																																						ENST00000291481.7																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16						c.(418-420)cGc>cAc		hyaluronan and proteoglycan link protein 4							85	74	78					19																	19371687		2203	4300	6503	SO:0001583	missense	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19371687C>T	AB107883	CCDS12398.1	19p13.1	2013-01-11						"Immunoglobulin superfamily / V-set domain containing"	31357	protein-coding gene	gene with protein product	"brain link protein 2"					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.419G>A	19.37:g.19371687C>T	ENSP00000291481:p.Arg140His					AC138430.4_ENST00000586064.2_RNA	p.R140H	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		3	482	-			140			Ig-like C2-type.		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	c.419G>A	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498383	0.44455	.	.	ENSG00000187664	ENST00000291481	T	0.65732	-0.17	4.66	3.62	0.41486	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	M	0.66939	2.045	0.39064	D	0.960579	P	0.41624	0.757	B	0.39419	0.299	T	0.63088	-0.6715	10	0.46703	T	0.11	-28.0045	10.5537	0.45103	0.0:0.9047:0.0:0.0953	.	140	Q86UW8	HPLN4_HUMAN	H	140	ENSP00000291481:R140H	ENSP00000291481:R140H	R	-	2	0	HAPLN4	19232687	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	1.822000	0.39052	1.185000	0.42971	0.561000	0.74099	CGC		0.627	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		8	52	0	0	0	1	0	8	52					T	19371687	C	T	19371687	3	4	435	1	0	0	0	0	1	0	0	0	6957	768	27	1	801	1	HAPLN4	19	19371687	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	22553	19371687	39757296	8146	29071	134	2									
HAPLN4	404037	broad.mit.edu	37	chr19	19371692	19371692	+	Silent	SNP	G	G	A																															acttcgcactcatagcgcccGtagtcttgcagcgtgacgtt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19371692G>A	ENST00000291481.7	-	3	477	c.414C>T	c.(412-414)taC>taT	p.Y138Y	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	138	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CATAGCGCCCGTAGTCTTGCA	0.632																																						ENST00000291481.7																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16						c.(412-414)taC>taT		hyaluronan and proteoglycan link protein 4							80	71	74					19																	19371692		2203	4300	6503	SO:0001819	synonymous_variant	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19371692G>A	AB107883	CCDS12398.1	19p13.1	2013-01-11						"Immunoglobulin superfamily / V-set domain containing"	31357	protein-coding gene	gene with protein product	"brain link protein 2"					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.414C>T	19.37:g.19371692G>A						AC138430.4_ENST00000586064.2_RNA	p.Y138Y	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		3	477	-			138			Ig-like C2-type.		A5PKW5|Q96PW2	Silent	SNP	ENST00000291481.7	37	c.414C>T	CCDS12398.1																																																																																				0.632	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		16	37	0	0	0	1	0	16	37					A	19371692	G	A	19371692	2	1	435	1	0	0	0	0	0	0	0	1	6957	1140	40	1		1	HAPLN4	19	19371692	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5	19371692	39757291	8147	29072	134	2									
KIAA0892	23383	broad.mit.edu	37	chr19	19451659	19451659	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttgttttgcagggcgCtgttcctcctcagcaagggg	4	12	13	12	1	2	0	1	0	1	0	4	0	4	0	3	3	2	5	3	3	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19451659C>T	ENST00000392313.6	+	6	735	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L	MAU2_ENST00000586189.3_3'UTR|MAU2_ENST00000262815.8_Silent_p.L186L	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	186					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TTGCAGGGCGCTGTTCCTCCT	0.597																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(556-558)Ctg>Ttg		MAU2 sister chromatid cohesion factor							60	65	63					19																	19451659		2077	4218	6295	SO:0001819	synonymous_variant	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19451659C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.556C>T	19.37:g.19451659C>T						MAU2_ENST00000585823.2_3'UTR|MAU2_ENST00000262815.8_Silent_p.L186L	p.L186L	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			6	602	+			186					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Silent	SNP	ENST00000392313.6	37	c.556C>T	CCDS32969.2																																																																																				0.597	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		8	16	0	0	0	1	0	8	16					T	19451659	C	T	19451659	2	4	435	1	0	0	0	0	0	0	0	1	8196	796	28	3		3	KIAA0892	19	19451659	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	79967	19451659	39677324	8148	29073											
KIAA0892	23383	broad.mit.edu	37	chr19	19454733	19454733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttgtcacgggtcacaaggCcacggcgctgcaggaggtaa	9	6	14	12	3	2	0	2	0	0	0	2	1	2	1	2	5	1	3	2	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19454733C>T	ENST00000392313.6	+	10	1240	c.1061C>T	c.(1060-1062)gCc>gTc	p.A354V	MAU2_ENST00000262815.8_Missense_Mutation_p.A354V	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	354					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GGTCACAAGGCCACGGCGCTG	0.587																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1060-1062)gCc>gTc		MAU2 sister chromatid cohesion factor							71	72	71					19																	19454733		2108	4222	6330	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19454733C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1061C>T	19.37:g.19454733C>T	ENSP00000376127:p.Ala354Val					MAU2_ENST00000585823.2_3'UTR|MAU2_ENST00000262815.8_Missense_Mutation_p.A354V	p.A354V	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			10	1107	+			354					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.1061C>T	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843900	0.71488	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	5.2	5.2	0.72013	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	N	0.08118	0	0.80722	D	1	P	0.50528	0.936	P	0.48304	0.573	T	0.36696	-0.9737	9	0.27785	T	0.31	.	17.3016	0.87183	0.0:1.0:0.0:0.0	.	354	Q9Y6X3	SCC4_HUMAN	V	354	.	ENSP00000262815:A354V	A	+	2	0	MAU2	19315733	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	7.475000	0.81041	2.435000	0.82474	0.561000	0.74099	GCC		0.587	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		12	44	0	0	0	1	0	12	44					T	19454733	C	T	19454733	3	4	435	1	0	0	0	0	1	0	0	0	8196	739	26	3	1099	3	KIAA0892	19	19454733	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3074	19454733	39674250	8149	29074											
GATAD2A	54815	broad.mit.edu	37	chr19	19609379	19609379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcggccgccaagctggCgctgcgcaaacagctggaga	10	3	15	13	4	0	1	0	0	0	1	0	2	0	1	2	4	4	4	2	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19609379C>T	ENST00000360315.3	+	8	1364	c.1052C>T	c.(1051-1053)gCg>gTg	p.A351V	GATAD2A_ENST00000252577.5_Missense_Mutation_p.A351V|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000358713.3_Missense_Mutation_p.A351V|GATAD2A_ENST00000404158.1_Missense_Mutation_p.A351V|GATAD2A_ENST00000429563.2_Missense_Mutation_p.A178V	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	351	CR2; histone tail-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GCCAAGCTGGCGCTGCGCAAA	0.652																																						ENST00000404158.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(1051-1053)gCg>gTg		GATA zinc finger domain containing 2A							34	37	36					19																	19609379		2202	4300	6502	SO:0001583	missense	54815				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	g.chr19:19609379C>T	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"GATA zinc finger domain containing"	29989	protein-coding gene	gene with protein product	"p66 alpha"	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1052C>T	19.37:g.19609379C>T	ENSP00000353463:p.Ala351Val					GATAD2A_ENST00000358713.3_Missense_Mutation_p.A351V|GATAD2A_ENST00000429563.2_Missense_Mutation_p.A178V|GATAD2A_ENST00000252577.5_Missense_Mutation_p.A351V|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000360315.3_Missense_Mutation_p.A351V	p.A351V			Q86YP4	P66A_HUMAN			10	1470	+			351					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	c.1052C>T	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571295	0.86542	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T;T	0.62105	0.81;0.44;1.12;0.81;0.05	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.80854	0.4703	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.997	T	0.81084	-0.1093	9	.	.	.	-26.9323	18.3542	0.90351	0.0:1.0:0.0:0.0	.	178;370;351	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	V	351;351;370;351;178	ENSP00000353463:A351V;ENSP00000252577:A351V;ENSP00000384899:A370V;ENSP00000351552:A351V;ENSP00000388416:A178V	.	A	+	2	0	GATAD2A	19470379	1.000000	0.71417	0.793000	0.32043	0.171000	0.22731	7.796000	0.85898	2.691000	0.91804	0.650000	0.86243	GCG		0.652	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		5	19	0	0	0	1	0	5	19					T	19609379	C	T	19609379	3	4	435	1	0	0	0	0	1	0	0	0	6260	768	27	1	1078	1	GATAD2A	19	19609379	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	154646	19609379	39519604	8150	29075											
TSSK6	51079	broad.mit.edu	37	chr19	19625556	19625556	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccttcgggatagagcacGccgcgtttctggcgccgggg	5	7	17	12	6	1	1	0	0	1	1	2	2	1	2	3	5	1	2	3	5	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19625556G>A	ENST00000507754.4	+	0	0				NDUFA13_ENST00000503283.1_5'Flank|TSSK6_ENST00000360913.3_Silent_p.G227G|NDUFA13_ENST00000428459.2_5'Flank|TSSK6_ENST00000585580.3_Silent_p.G227G|NDUFA13_ENST00000252576.5_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|NDUFA13_ENST00000512771.3_5'Flank|YJEFN3_ENST00000608404.1_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GATAGAGCACGCCGCGTTTCT	0.692																																						ENST00000360913.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(679-681)ggC>ggT		testis-specific serine kinase 6							34	35	35					19																	19625556		2198	4293	6491	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19625556G>A	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625556G>A	Exception_encountered					TSSK6_ENST00000585580.3_Silent_p.G227G	p.G227G			Q9BXA6	TSSK6_HUMAN			1	1282	-			227			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	ENST00000507754.4	37	c.681C>T	CCDS12404.2																																																																																				0.692	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		9	51	0	0	0	1	0	9	51					A	19625556	G	A	19625556	1	1	435	0	1	0	0	0	0	0	0	0	16669	1074	38	1		1	TSSK6	19	19625556	5'Flank	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16177	19625556	39503427	8151	29076											
TSSK6	51079	broad.mit.edu	37	chr19	19625628	19625628	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcacccggtgaccatgacGtagagcacgacgcccatgct	10	6	11	14	4	0	3	0	2	0	1	0	4	0	3	3	1	3	4	3	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19625628G>A	ENST00000507754.4	+	0	0				NDUFA13_ENST00000503283.1_5'Flank|TSSK6_ENST00000360913.3_Silent_p.Y203Y|NDUFA13_ENST00000428459.2_5'Flank|TSSK6_ENST00000585580.3_Silent_p.Y203Y|NDUFA13_ENST00000252576.5_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|NDUFA13_ENST00000512771.3_5'Flank|YJEFN3_ENST00000608404.1_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						TGACCATGACGTAGAGCACGA	0.662																																						ENST00000360913.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(607-609)taC>taT		testis-specific serine kinase 6							57	44	48					19																	19625628		2203	4299	6502	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19625628G>A	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625628G>A	Exception_encountered					TSSK6_ENST00000585580.3_Silent_p.Y203Y	p.Y203Y			Q9BXA6	TSSK6_HUMAN			1	1210	-			203			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	ENST00000507754.4	37	c.609C>T	CCDS12404.2																																																																																				0.662	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		22	24	0	0	0	1	0	22	24					A	19625628	G	A	19625628	1	1	435	0	1	0	0	0	0	0	0	0	16669	1140	40	1		1	TSSK6	19	19625628	5'Flank	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	72	19625628	39503355	8152	29077											
NDUFA13	51079	broad.mit.edu	37	chr19	19638886	19638886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagctgtacgggctgcgcaCcacagaggaggctctccatg	8	6	15	12	2	1	1	0	0	1	1	2	3	1	3	2	4	3	5	2	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19638886C>T	ENST00000507754.4	+	5	870	c.386C>T	c.(385-387)aCc>aTc	p.T129I	NDUFA13_ENST00000503283.1_Intron|YJEFN3_ENST00000436027.5_5'Flank|YJEFN3_ENST00000514277.4_5'Flank|NDUFA13_ENST00000252576.5_Missense_Mutation_p.T212I|CTC-260F20.3_ENST00000555938.1_Intron|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000512771.3_Missense_Mutation_p.T129I|YJEFN3_ENST00000608404.1_Intron			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	129	Important for inducing cell death.				apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GGGCTGCGCACCACAGAGGAG	0.667																																						ENST00000507754.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						c.(385-387)aCc>aTc		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13							48	43	45					19																	19638886		2203	4300	6503	SO:0001583	missense	51079							g.chr19:19638886C>T	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.386C>T	19.37:g.19638886C>T	ENSP00000423673:p.Thr129Ile					CTC-260F20.3_ENST00000555938.1_Intron|NDUFA13_ENST00000252576.5_Missense_Mutation_p.T212I|NDUFA13_ENST00000503283.1_Intron|CTC-260F20.3_ENST00000586674.1_3'UTR	p.T129I							5	887	+								B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.386C>T	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510465	0.44660	.	.	ENSG00000186010	ENST00000507754;ENST00000252576	T;T	0.76968	-1.06;-1.06	4.7	4.7	0.59300	.	0.355002	0.26007	N	0.026914	T	0.77877	0.4196	L	0.44542	1.39	0.58432	D	0.999998	D;B	0.54397	0.966;0.257	P;B	0.52646	0.705;0.198	T	0.77913	-0.2410	10	0.42905	T	0.14	.	13.1963	0.59740	0.0:1.0:0.0:0.0	.	129;129	B4DF76;Q9P0J0	.;NDUAD_HUMAN	I	129;212	ENSP00000423673:T129I;ENSP00000252576:T212I	ENSP00000252576:T212I	T	+	2	0	NDUFA13	19499886	0.011000	0.17503	0.003000	0.11579	0.002000	0.02628	2.581000	0.46077	2.199000	0.70637	0.585000	0.79938	ACC		0.667	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		5	9	0	0	0	1	0	5	9					T	19638886	C	T	19638886	3	4	435	1	0	0	0	0	1	0	0	0	10263	507	18	3	404	3	NDUFA13	19	19638886	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13258	19638886	39490097	8153	29078											
YJEFN3	374887	broad.mit.edu	37	chr19	19645851	19645851	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctaccaccaggcgttcccGttgcccgctctctcccggaa	5	8	8	20	4	1	0	0	0	1	0	4	1	3	1	6	2	2	3	6	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19645851G>A	ENST00000514277.4	+	4	365	c.327G>A	c.(325-327)ccG>ccA	p.P109P	YJEFN3_ENST00000436027.5_Silent_p.P59P|CTC-260F20.3_ENST00000555938.1_Silent_p.P108P|YJEFN3_ENST00000608404.1_Silent_p.P108P	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	109	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						AGGCGTTCCCGTTGCCCGCTC	0.657																																						ENST00000555938.1																			0											c.(322-324)ccG>ccA									93	107	102					19																	19645851		2096	4227	6323	SO:0001819	synonymous_variant	0							g.chr19:19645851G>A		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.327G>A	19.37:g.19645851G>A						YJEFN3_ENST00000514277.3_Silent_p.P109P|YJEFN3_ENST00000436027.4_Silent_p.P59P	p.P108P							5	336	+								A6XGK9|Q4G1C0	Silent	SNP	ENST00000514277.4	37	c.324G>A	CCDS42530.1																																																																																				0.657	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		14	104	0	0	0	1	0	14	104					A	19645851	G	A	19645851	2	1	435	1	0	0	0	0	0	0	0	1	17481	1132	40	1		1	YJEFN3	19	19645851	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6965	19645851	39483132	8154	29079											
YJEFN3	374887	broad.mit.edu	37	chr19	19648259	19648259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcgtggccggcaggttcgtgCccgatgacgtgcgccgcaag	5	7	16	13	7	0	1	0	1	0	0	2	2	0	1	3	3	2	3	3	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19648259C>T	ENST00000514277.4	+	7	864	c.826C>T	c.(826-828)Ccc>Tcc	p.P276S	YJEFN3_ENST00000436027.5_Missense_Mutation_p.P226S|CILP2_ENST00000291495.5_5'Flank|CILP2_ENST00000586018.1_5'Flank	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	276	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						CAGGTTCGTGCCCGATGACGT	0.736																																						ENST00000514277.3																			0				NS(1)|breast(1)|lung(3)	5						c.(826-828)Ccc>Tcc		YjeF N-terminal domain containing 3							5	7	6					19																	19648259		1888	3960	5848	SO:0001583	missense	374887							g.chr19:19648259C>T		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.826C>T	19.37:g.19648259C>T	ENSP00000426964:p.Pro276Ser					YJEFN3_ENST00000436027.4_Missense_Mutation_p.P226S	p.P276S	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN			7	861	+			276			YjeF N-terminal.		A6XGK9|Q4G1C0	Missense_Mutation	SNP	ENST00000514277.4	37	c.826C>T	CCDS42530.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724597	0.89298	.	.	ENSG00000250067	ENST00000397179;ENST00000436027;ENST00000514277;ENST00000510139	T;T	0.51071	0.72;0.72	4.04	4.04	0.47022	YjeF-related protein, N-terminal (3);	0.288787	0.33217	U	0.005148	T	0.68100	0.2964	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.73503	-0.3962	10	0.72032	D	0.01	-0.6995	13.761	0.62966	0.0:1.0:0.0:0.0	.	226;276	A6XGL0-2;A6XGL0	.;YJEN3_HUMAN	S	276;226;276;226	ENSP00000398520:P226S;ENSP00000426964:P276S	ENSP00000380364:P276S	P	+	1	0	YJEFN3	19509259	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	5.370000	0.66144	1.830000	0.53286	0.306000	0.20318	CCC		0.736	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		8	7	0	0	0	1	0	8	7					T	19648259	C	T	19648259	3	4	435	1	0	0	0	0	1	0	0	0	17481	739	26	3	852	3	YJEFN3	19	19648259	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2408	19648259	39480724	8155	29080											
CILP2	148113	broad.mit.edu	37	chr19	19656215	19656215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccaggagtatatggtccGctcccacaacgcagggggca	9	6	12	14	2	0	0	0	0	0	0	3	1	3	1	4	4	1	4	4	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19656215G>A	ENST00000291495.5	+	8	2946	c.2861G>A	c.(2860-2862)cGc>cAc	p.R954H	CILP2_ENST00000586018.1_Missense_Mutation_p.R960H	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	954						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TATATGGTCCGCTCCCACAAC	0.682																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2878-2880)cGc>cAc		cartilage intermediate layer protein 2							17	18	18					19																	19656215		2201	4298	6499	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19656215G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2861G>A	19.37:g.19656215G>A	ENSP00000291495:p.Arg954His					CILP2_ENST00000291495.4_Missense_Mutation_p.R954H	p.R960H			Q8IUL8	CILP2_HUMAN			8	2981	+			954					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.2879G>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271831	0.59649	.	.	ENSG00000160161	ENST00000291495	T	0.11277	2.79	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.33614	0.0869	M	0.67397	2.05	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.00907	-1.1519	10	0.87932	D	0	-25.9	17.571	0.87934	0.0:0.0:1.0:0.0	.	954;954	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	H	954	ENSP00000291495:R954H	ENSP00000291495:R954H	R	+	2	0	CILP2	19517215	1.000000	0.71417	0.104000	0.21259	0.008000	0.06430	9.583000	0.98217	2.757000	0.94681	0.555000	0.69702	CGC		0.682	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		7	15	0	0	0	1	0	7	15					A	19656215	G	A	19656215	3	1	435	1	0	0	0	0	1	0	0	0	3430	1087	38	1	2891	1	CILP2	19	19656215	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7956	19656215	39472768	8156	29081											
GMIP	51291	broad.mit.edu	37	chr19	19744908	19744908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggatggcgctggctgcccGcgggccgtccggcggccgca	3	4	19	15	7	0	0	0	0	0	0	1	1	1	1	4	6	1	3	4	6	0	0	rs139822718		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19744908G>A	ENST00000203556.4	-	19	2313	c.2176C>T	c.(2176-2178)Cgg>Tgg	p.R726W	GMIP_ENST00000445806.2_Missense_Mutation_p.R697W|GMIP_ENST00000587238.1_Missense_Mutation_p.R700W|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	726	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTGGCTGCCCGCGGGCCGTCC	0.612																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(2176-2178)Cgg>Tgg		GEM interacting protein		G	TRP/ARG	1,4401		0,1,2200	32	37	35		2176	-6.6	0	19	dbSNP_134	35	0,8584		0,0,4292	no	missense	GMIP	NM_016573.2	101	0,1,6492	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	726/971	19744908	1,12985	2201	4292	6493	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19744908G>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.2176C>T	19.37:g.19744908G>A	ENSP00000203556:p.Arg726Trp					GMIP_ENST00000587238.1_Missense_Mutation_p.R700W|GMIP_ENST00000445806.2_Missense_Mutation_p.R697W	p.R726W	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			19	2313	-			726			Rho-GAP.		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.2176C>T	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635884	0.29068	2.27E-4	0.0	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.23348	1.92;1.91	5.25	-6.63	0.01807	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.698280	0.12304	N	0.480890	T	0.18676	0.0448	L	0.34521	1.04	0.09310	N	1	D;D;D	0.61697	0.99;0.986;0.99	P;P;P	0.51101	0.659;0.625;0.659	T	0.04737	-1.0930	10	0.66056	D	0.02	-2.5091	2.9391	0.05824	0.3683:0.3773:0.1463:0.108	.	697;700;726	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	W	726;697	ENSP00000203556:R726W;ENSP00000397075:R697W	ENSP00000203556:R726W	R	-	1	2	GMIP	19605908	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.085000	0.11250	-1.530000	0.01751	-0.345000	0.07892	CGG		0.612	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		18	34	0	0	0	1	0	18	34					A	19744908	G	A	19744908	3	1	435	1	0	0	0	0	1	0	0	0	6491	1086	38	1	748	1	GMIP	19	19744908	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	88693	19744908	39384075	8157	29082											
GMIP	51291	broad.mit.edu	37	chr19	19746242	19746242	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcctcacactccgtcccGctgaccatgaaggcttcgca	8	8	7	18	3	1	2	1	2	0	0	5	2	4	2	5	1	0	3	5	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19746242G>A	ENST00000203556.4	-	15	1679	c.1542C>T	c.(1540-1542)agC>agT	p.S514S	GMIP_ENST00000445806.2_Silent_p.S485S|GMIP_ENST00000587238.1_Silent_p.S488S|GMIP_ENST00000586269.1_5'UTR	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	514					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACTCCGTCCCGCTGACCATGA	0.612																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1540-1542)agC>agT		GEM interacting protein							114	101	105					19																	19746242		2203	4300	6503	SO:0001819	synonymous_variant	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19746242G>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1542C>T	19.37:g.19746242G>A						GMIP_ENST00000587238.1_Silent_p.S488S|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Silent_p.S485S	p.S514S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			15	1679	-			514					A0AVN9|B7ZLZ0	Silent	SNP	ENST00000203556.4	37	c.1542C>T	CCDS12408.1																																																																																				0.612	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		18	26	0	0	0	1	0	18	26					A	19746242	G	A	19746242	2	1	435	1	0	0	0	0	0	0	0	1	6491	1078	38	1		1	GMIP	19	19746242	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1334	19746242	39382741	8158	29083											
GMIP	51291	broad.mit.edu	37	chr19	19746265	19746265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccatgaaggcttcgcactCgcggcacttggctgggcccc	6	7	13	15	3	0	1	0	1	0	0	2	2	0	1	3	4	0	4	3	4	1	2	rs146115077		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19746265C>T	ENST00000203556.4	-	15	1656	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	GMIP_ENST00000445806.2_Missense_Mutation_p.E478K|GMIP_ENST00000587238.1_Missense_Mutation_p.E481K|GMIP_ENST00000586269.1_5'UTR	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	507					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCTTCGCACTCGCGGCACTTG	0.632																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1519-1521)Gag>Aag		GEM interacting protein		C	LYS/GLU	0,4406		0,0,2203	91	82	85		1519	4.9	0.9	19	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense	GMIP	NM_016573.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	507/971	19746265	1,13005	2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19746265C>T	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1519G>A	19.37:g.19746265C>T	ENSP00000203556:p.Glu507Lys					GMIP_ENST00000587238.1_Missense_Mutation_p.E481K|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Missense_Mutation_p.E478K	p.E507K	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			15	1656	-			507					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.1519G>A	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103933	0.76983	0.0	1.16E-4	ENSG00000089639	ENST00000203556;ENST00000445806	D;D	0.84070	-1.8;-1.8	4.91	4.91	0.64330	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.151030	0.30602	N	0.009279	D	0.88966	0.6581	M	0.69358	2.11	0.58432	D	0.999992	D;D;D	0.76494	0.999;0.985;0.999	D;P;D	0.63877	0.919;0.625;0.919	D	0.89500	0.3763	10	0.52906	T	0.07	-16.5884	15.5963	0.76583	0.0:1.0:0.0:0.0	.	478;481;507	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	K	507;478	ENSP00000203556:E507K;ENSP00000397075:E478K	ENSP00000203556:E507K	E	-	1	0	GMIP	19607265	1.000000	0.71417	0.894000	0.35097	0.819000	0.46315	5.644000	0.67902	2.267000	0.75376	0.561000	0.74099	GAG		0.632	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		14	30	0	0	0	1	0	14	30					T	19746265	C	T	19746265	3	4	435	1	0	0	0	0	1	0	0	0	6491	893	31	2	1421	2	GMIP	19	19746265	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	23	19746265	39382718	8159	29084											
GMIP	51291	broad.mit.edu	37	chr19	19747821	19747821	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcccagagagcttctttCtgatgtccagaggggagctg	8	9	15	9	0	2	3	0	1	2	2	3	6	3	4	2	3	2	2	2	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19747821C>A	ENST00000203556.4	-	12	1279	c.1142G>T	c.(1141-1143)aGa>aTa	p.R381I	GMIP_ENST00000445806.2_Missense_Mutation_p.R381I|GMIP_ENST00000587238.1_Missense_Mutation_p.R381I|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	381	Pro-rich.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GAGCTTCTTTCTGATGTCCAG	0.567																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1141-1143)aGa>aTa		GEM interacting protein							18	16	17					19																	19747821		2203	4299	6502	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19747821C>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1142G>T	19.37:g.19747821C>A	ENSP00000203556:p.Arg381Ile					GMIP_ENST00000587238.1_Missense_Mutation_p.R381I|GMIP_ENST00000445806.2_Missense_Mutation_p.R381I	p.R381I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			12	1279	-			381			Pro-rich.		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.1142G>T	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593698	0.46214	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.22539	1.95;1.97	4.43	1.15	0.20763	.	0.143310	0.31673	N	0.007250	T	0.22898	0.0553	M	0.65498	2.005	0.26749	N	0.970235	P;P;P	0.43169	0.8;0.8;0.694	P;P;B	0.45037	0.467;0.467;0.444	T	0.07462	-1.0771	10	0.36615	T	0.2	-8.7173	5.9042	0.18984	0.0:0.6578:0.0:0.3422	.	381;381;381	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	I	381	ENSP00000203556:R381I;ENSP00000397075:R381I	ENSP00000203556:R381I	R	-	2	0	GMIP	19608821	0.771000	0.28555	0.111000	0.21465	0.649000	0.38597	0.563000	0.23547	0.148000	0.19059	0.511000	0.50034	AGA		0.567	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		4	3	1	0	0.00909568	1	0.00918626	4	3					A	19747821	C	A	19747821	3	1	435	1	0	0	0	0	1	0	0	0	6491	913	32	5	1810	5	GMIP	19	19747821	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1556	19747821	39381162	8160	29085											
GMIP	51291	broad.mit.edu	37	chr19	19748817	19748817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaggtcctgctgccgcGcgttggcctcgcggacacag	4	8	13	16	5	1	0	0	0	1	0	4	1	2	1	4	3	2	2	4	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19748817G>A	ENST00000203556.4	-	10	976	c.839C>T	c.(838-840)gCg>gTg	p.A280V	GMIP_ENST00000445806.2_Missense_Mutation_p.A280V|GMIP_ENST00000587238.1_Missense_Mutation_p.A280V|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	280					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTGCTGCCGCGCGTTGGCCTC	0.692																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(838-840)gCg>gTg		GEM interacting protein							39	30	33					19																	19748817		2202	4298	6500	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19748817G>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.839C>T	19.37:g.19748817G>A	ENSP00000203556:p.Ala280Val					GMIP_ENST00000587238.1_Missense_Mutation_p.A280V|GMIP_ENST00000445806.2_Missense_Mutation_p.A280V	p.A280V	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			10	976	-			280					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.839C>T	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554317	0.27739	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.46451	0.87;0.87	4.27	1.91	0.25777	.	1.082430	0.07276	N	0.869947	T	0.29652	0.0740	L	0.32530	0.975	0.09310	N	1	B;B;B	0.23937	0.094;0.094;0.094	B;B;B	0.04013	0.001;0.001;0.001	T	0.20405	-1.0276	10	0.30854	T	0.27	-5.4845	6.3037	0.21127	0.3211:0.0:0.6789:0.0	.	280;280;280	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	V	280	ENSP00000203556:A280V;ENSP00000397075:A280V	ENSP00000203556:A280V	A	-	2	0	GMIP	19609817	0.000000	0.05858	0.822000	0.32727	0.873000	0.50193	-0.034000	0.12225	0.778000	0.33520	0.313000	0.20887	GCG		0.692	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		7	4	0	0	0	1	0	7	4					A	19748817	G	A	19748817	3	1	435	1	0	0	0	0	1	0	0	0	6491	1087	38	1	2121	1	GMIP	19	19748817	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	996	19748817	39380166	8161	29086											
ATP13A1	57130	broad.mit.edu	37	chr19	19762591	19762591	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagtgagcgggttgtctcCcgtgatcatgaccaccttgg	6	11	13	11	2	2	3	1	3	1	0	3	3	2	3	3	2	2	2	3	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19762591C>A	ENST00000357324.6	-	17	2268	c.2242G>T	c.(2242-2244)Gga>Tga	p.G748*	ATP13A1_ENST00000291503.5_Nonsense_Mutation_p.G630*|ATP13A1_ENST00000496082.1_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	748						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGGTTGTCTCCCGTGATCATG	0.597																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	ENST00000357324.6																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(2242-2244)Gga>Tga		ATPase type 13A1							120	90	100					19																	19762591		2203	4300	6503	SO:0001587	stop_gained	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19762591C>A	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.2242G>T	19.37:g.19762591C>A	ENSP00000349877:p.Gly748*					ATP13A1_ENST00000291503.5_Nonsense_Mutation_p.G630*	p.G748*	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN			17	2268	-			748					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Nonsense_Mutation	SNP	ENST00000357324.6	37	c.2242G>T	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	C	38	7.274310	0.98179	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	.	.	.	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.1869	14.7896	0.69830	0.0:1.0:0.0:0.0	.	.	.	.	X	630;748	.	ENSP00000291503:G630X	G	-	1	0	ATP13A1	19623591	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.376000	0.79658	2.082000	0.62665	0.563000	0.77884	GGA		0.597	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		7	15	1	0	0.000157383	1	0.000161063	7	15					A	19762591	C	A	19762591	4	1	435	1	0	0	0	0	0	1	0	0	1123	632	22	5	1412	5	ATP13A1	19	19762591	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13774	19762591	39366392	8162	29087											
ZNF101	94039	broad.mit.edu	37	chr19	19790271	19790271	+	Missense_Mutation	SNP	G	G	A																															ttcccccagtagtggtgcacGgcgcacagtaacaccaactc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19790271G>A	ENST00000592502.1	+	4	583	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.R38Q			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						AGTGGTGCACGGCGCACAGTA	0.483																																						ENST00000592502.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.(472-474)cGg>cAg		zinc finger protein 101							95	95	95					19																	19790271		2203	4300	6503	SO:0001583	missense	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790271G>A	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.473G>A	19.37:g.19790271G>A	ENSP00000468049:p.Arg158Gln					ZNF101_ENST00000415784.2_Missense_Mutation_p.R38Q|ZNF101_ENST00000444249.2_3'UTR	p.R158Q			Q8IZC7	ZN101_HUMAN			4	583	+			158					C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	c.473G>A	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	4.917	0.170455	0.09391	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.08008	3.14;3.14	0.235	-0.47	0.12131	.	.	.	.	.	T	0.03095	0.0091	N	0.08118	0	0.09310	N	0.999993	B	0.13145	0.007	B	0.04013	0.001	T	0.46843	-0.9162	8	0.11794	T	0.64	.	.	.	.	.	158	Q8IZC7	ZN101_HUMAN	Q	158;158;38	ENSP00000319716:R158Q;ENSP00000400952:R38Q	ENSP00000319716:R158Q	R	+	2	0	ZNF101	19651271	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	-3.177000	0.00570	-0.748000	0.04753	-0.752000	0.03492	CGG		0.483	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		34	32	0	0	0	1	0	34	32					A	19790271	G	A	19790271	3	1	435	1	0	0	0	0	1	0	0	0	17711	1116	39	2	487	2	ZNF101	19	19790271	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27680	19790271	39338712	8163	29088	135	2									
ZNF101	94039	broad.mit.edu	37	chr19	19790274	19790274	+	Missense_Mutation	SNP	G	G	A																															ccccagtagtggtgcacggcGcacagtaacaccaactcgaa																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19790274G>A	ENST00000592502.1	+	4	586	c.476G>A	c.(475-477)cGc>cAc	p.R159H	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.R39H			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R159H(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GGTGCACGGCGCACAGTAACA	0.478																																						ENST00000592502.1																			2	Substitution - Missense(2)	p.R159H(2)	large_intestine(1)|breast(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.(475-477)cGc>cAc		zinc finger protein 101							94	95	95					19																	19790274		2203	4300	6503	SO:0001583	missense	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790274G>A	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.476G>A	19.37:g.19790274G>A	ENSP00000468049:p.Arg159His					ZNF101_ENST00000415784.2_Missense_Mutation_p.R39H|ZNF101_ENST00000444249.2_3'UTR	p.R159H			Q8IZC7	ZN101_HUMAN			4	586	+			159					C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	c.476G>A	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.587963	0.00128	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.07800	3.16;3.16	0.235	-0.47	0.12131	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.23138	N	0.998238	B	0.02656	0.0	B	0.01281	0.0	T	0.44907	-0.9297	9	0.02654	T	1	.	5.548	0.17076	0.7377:0.0:0.2623:0.0	.	159	Q8IZC7	ZN101_HUMAN	H	159;159;39	ENSP00000319716:R159H;ENSP00000400952:R39H	ENSP00000319716:R159H	R	+	2	0	ZNF101	19651274	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	-1.475000	0.02335	-1.768000	0.01298	-1.745000	0.00682	CGC		0.478	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		33	33	0	0	0	1	0	33	33					A	19790274	G	A	19790274	3	1	435	1	0	0	0	0	1	0	0	0	17711	1087	38	1	490	1	ZNF101	19	19790274	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3	19790274	39338709	8164	29089	135	2									
ZNF14	7561	broad.mit.edu	37	chr19	19822634	19822634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtcgaaaggaactggaacGaatgaaaacttttccacact	16	8	8	9	2	0	1	0	1	0	0	2	5	1	3	1	2	3	0	1	2	6	2	rs200075394	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19822634G>A	ENST00000344099.3	-	4	1594	c.1456C>T	c.(1456-1458)Cgt>Tgt	p.R486C		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				GAACTGGAACGAATGAAAACT	0.403													G|||	2	0.000399361	0.0015	0	5008	,	,		22298	0		0	False		,,,				2504	0					ENST00000344099.3																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(1456-1458)Cgt>Tgt		zinc finger protein 14							85	80	82					19																	19822634		2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19822634G>A	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"Zinc fingers, C2H2-type", "-"	12924	protein-coding gene	gene with protein product		194556	"zinc finger protein 14 (KOX 6)"				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1456C>T	19.37:g.19822634G>A	ENSP00000340514:p.Arg486Cys						p.R486C	NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN			4	1594	-		Renal(1328;0.0474)	486					B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.1456C>T	CCDS12409.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.61	1.689042	0.29962	.	.	ENSG00000105708	ENST00000344099	T	0.16073	2.37	1.8	-1.59	0.08453	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11367	0.0277	L	0.43701	1.375	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35475	-0.9787	9	0.26408	T	0.33	.	3.5159	0.07725	0.2951:0.2175:0.4874:0.0	.	486	P17017	ZNF14_HUMAN	C	486	ENSP00000340514:R486C	ENSP00000340514:R486C	R	-	1	0	ZNF14	19683634	0.000000	0.05858	0.001000	0.08648	0.990000	0.78478	-0.131000	0.10482	-0.404000	0.07610	0.467000	0.42956	CGT		0.403	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		5	93	0	0	0	1	0	5	93					A	19822634	G	A	19822634	3	1	435	1	0	0	0	0	1	0	0	0	17725	1058	37	2	476	2	ZNF14	19	19822634	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32360	19822634	39306349	8165	29090											
ZNF506	440515	broad.mit.edu	37	chr19	19905509	19905509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacattcttcacatttgtacGgtttctctccagtatgaatt	9	17	5	10	1	3	1	1	1	2	0	5	1	4	1	1	1	1	3	1	1	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19905509G>A	ENST00000540806.2	-	4	1275	c.1187C>T	c.(1186-1188)cCg>cTg	p.P396L	ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000450683.2_Missense_Mutation_p.P364L|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000443905.2_Missense_Mutation_p.P396L			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						ACATTTGTACGGTTTCTCTCC	0.373																																						ENST00000443905.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						c.(1186-1188)cCg>cTg		zinc finger protein 506							61	65	63					19																	19905509		2131	4269	6400	SO:0001583	missense	440515				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr19:19905509G>A	AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"Zinc fingers, C2H2-type", "-"	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.1187C>T	19.37:g.19905509G>A	ENSP00000440625:p.Pro396Leu					ZNF506_ENST00000540806.2_Missense_Mutation_p.P396L|ZNF506_ENST00000450683.2_Missense_Mutation_p.P364L|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000587461.1_Intron	p.P396L			Q5JVG8	ZN506_HUMAN			4	1334	-			396					B3KTH6	Missense_Mutation	SNP	ENST00000540806.2	37	c.1187C>T	CCDS42531.1	.	.	.	.	.	.	.	.	.	.	g	14.30	2.495538	0.44352	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.17054	2.3;2.3;2.3	1.01	1.01	0.19927	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33556	0.0867	M	0.72576	2.205	0.49051	D	0.999743	D;D	0.89917	0.976;1.0	P;D	0.69654	0.604;0.965	T	0.06643	-1.0815	9	0.62326	D	0.03	.	7.4069	0.26995	0.0:0.0:1.0:0.0	.	396;364	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	L	396;396;364	ENSP00000393835:P396L;ENSP00000440625:P396L;ENSP00000408892:P364L	ENSP00000393835:P396L	P	-	2	0	ZNF506	19766509	0.999000	0.42202	0.008000	0.14137	0.008000	0.06430	3.838000	0.55828	0.430000	0.26230	0.430000	0.28490	CCG		0.373	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218		29	44	0	0	0	1	0	29	44					A	19905509	G	A	19905509	3	1	435	1	0	0	0	0	1	0	0	0	17949	1116	39	2	151	2	ZNF506	19	19905509	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	82875	19905509	39223474	8166	29091											
ZNF486	90649	broad.mit.edu	37	chr19	20308730	20308730	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaactcatactggagagaAaccctacaaatgtgaagaat	18	7	9	7	0	1	4	1	1	0	3	1	7	1	5	1	1	4	0	1	1	7	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:20308730A>G	ENST00000335117.8	+	4	1268	c.1211A>G	c.(1210-1212)aAa>aGa	p.K404R	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	404					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						ACTGGAGAGAAACCCTACAAA	0.388																																						ENST00000335117.8																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(1210-1212)aAa>aGa		zinc finger protein 486							33	36	35					19																	20308730		2187	4292	6479	SO:0001583	missense	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20308730A>G	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"Zinc fingers, C2H2-type", "-"	20807	protein-coding gene	gene with protein product			"KRAB domain only 2"	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.1211A>G	19.37:g.20308730A>G	ENSP00000335042:p.Lys404Arg					CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	p.K404R	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN			4	1268	+			404					Q0VG00	Missense_Mutation	SNP	ENST00000335117.8	37	c.1211A>G	CCDS46029.1	.	.	.	.	.	.	.	.	.	.	-	13.47	2.247745	0.39697	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.24908	1.83	0.85	0.85	0.18980	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31638	0.0803	N	0.26130	0.795	0.28439	N	0.91691	D	0.89917	1.0	D	0.91635	0.999	T	0.14090	-1.0485	9	0.59425	D	0.04	.	5.4501	0.16560	1.0:0.0:0.0:0.0	.	404	Q96H40	ZN486_HUMAN	R	443;404	ENSP00000335042:K404R	ENSP00000335042:K404R	K	+	2	0	ZNF486	20169730	0.236000	0.23804	0.858000	0.33744	0.858000	0.48976	0.212000	0.17497	0.166000	0.19597	0.164000	0.16699	AAA		0.388	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		24	32	0	0	0	1	0	24	32					G	20308730	A	G	20308730	3	3	435	1	0	0	0	0	1	0	0	0	17936	14	1	4	1225	4	ZNF486	19	20308730	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	403221	20308730	38820253	8167	29092											
ZNF737	100129842	broad.mit.edu	37	chr19	20728021	20728021	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtatgaattcttttatgtgTagtaaggacagaggggtgct	11	14	13	3	0	1	2	0	1	1	1	1	3	1	3	0	3	1	4	0	3	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:20728021T>C	ENST00000427401.4	-	4	1082	c.988A>G	c.(988-990)Aca>Gca	p.T330A		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTTTTATGTGTAGTAAGGACA	0.403																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(988-990)Aca>Gca		zinc finger protein 737							22	21	22					19																	20728021		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728021T>C	BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.988A>G	19.37:g.20728021T>C	ENSP00000395733:p.Thr330Ala						p.T330A	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	1082	-			330					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.988A>G	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	7.846	0.723008	0.15439	.	.	ENSG00000237440	ENST00000427401	T	0.07216	3.21	0.801	-0.554	0.11811	.	.	.	.	.	T	0.04770	0.0129	N	0.20766	0.605	0.09310	N	1	B	0.16396	0.017	B	0.15870	0.014	T	0.40156	-0.9578	9	0.44086	T	0.13	.	3.7789	0.08673	0.0:0.3207:0.0:0.6793	.	330	C9JHM3	.	A	330	ENSP00000395733:T330A	ENSP00000395733:T330A	T	-	1	0	ZNF737	20519861	0.000000	0.05858	0.496000	0.27539	0.498000	0.33706	-5.724000	0.00102	0.147000	0.19030	0.145000	0.16022	ACA		0.403	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		7	56	0	0	0	1	0	7	56					C	20728021	T	C	20728021	3	2	435	1	0	0	0	0	1	0	0	0	18123	1638	57	4	626	4	ZNF737	19	20728021	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	419291	20728021	38400962	8168	29093											
ZNF737	100129842	broad.mit.edu	37	chr19	20728103	20728103	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgctatgaattatcttatgCgcagtaaggatagaggagcg	12	10	12	7	3	1	2	0	1	1	1	1	4	1	4	1	2	2	3	1	2	6	5	rs572242337	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:20728103C>T	ENST00000427401.4	-	4	1000	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTATCTTATGCGCAGTAAGGA	0.403													t|||	2	0.000399361	8e-04	0	5008	,	,		22049	0		0.001	False		,,,				2504	0					ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(904-906)gcG>gcA		zinc finger protein 737							53	51	52					19																	20728103		692	1591	2283	SO:0001819	synonymous_variant	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728103C>T	BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.906G>A	19.37:g.20728103C>T							p.A302A	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	1000	-			302					C9JHM3	Silent	SNP	ENST00000427401.4	37	c.906G>A	CCDS54238.1																																																																																				0.403	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		17	34	0	0	0	1	0	17	34					T	20728103	C	T	20728103	2	4	435	1	0	0	0	0	0	0	0	1	18123	755	27	1		1	ZNF737	19	20728103	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	82	20728103	38400880	8169	29094											
ZNF626	199777	broad.mit.edu	37	chr19	20829186	20829186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctccagagagaattctatgGccacatctctaaattgcaat	13	11	6	11	0	2	2	0	0	2	2	4	3	3	2	3	1	1	1	3	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:20829186G>A	ENST00000601440.1	-	2	175	c.29C>T	c.(28-30)gCc>gTc	p.A10V	CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF626_ENST00000291750.6_Missense_Mutation_p.A10V	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	10	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						GAATTCTATGGCCACATCTCT	0.413																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(28-30)gCc>gTc		zinc finger protein 626							91	99	96					19																	20829186		2203	4297	6500	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20829186G>A	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.29C>T	19.37:g.20829186G>A	ENSP00000469958:p.Ala10Val					CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF626_ENST00000291750.6_Missense_Mutation_p.A10V	p.A10V	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			2	175	-			10			KRAB.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.29C>T	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	g	12.94	2.089677	0.36855	.	.	ENSG00000188171	ENST00000392298;ENST00000305570;ENST00000291750	T	0.03301	3.98	1.02	1.02	0.19986	Krueppel-associated box (4);	.	.	.	.	T	0.08891	0.0220	M	0.67625	2.065	0.09310	N	1	P;P	0.45126	0.851;0.698	P;P	0.52386	0.697;0.654	T	0.18209	-1.0344	9	0.56958	D	0.05	.	5.2452	0.15493	0.0:0.0:1.0:0.0	.	10;10	Q96QM1;Q68DY1	.;ZN626_HUMAN	V	10	ENSP00000291750:A10V	ENSP00000291750:A10V	A	-	2	0	ZNF626	20621026	0.814000	0.29104	0.162000	0.22713	0.153000	0.21895	1.899000	0.39818	0.439000	0.26476	0.442000	0.29010	GCC		0.413	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		52	95	0	0	0	1	0	52	95					A	20829186	G	A	20829186	3	1	435	1	0	0	0	0	1	0	0	0	18047	1203	42	3	1626	3	ZNF626	19	20829186	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	101083	20829186	38299797	8170	29095											
ZNF431	170959	broad.mit.edu	37	chr19	21365724	21365725	+	Frame_Shift_Ins	INS	-	-	A																															gaaagaaacctttcaaatgtINSaaaaaatgtggcaaatcatt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:21365724_21365725insA	ENST00000311048.7	+	5	762_763	c.618_619insA	c.(619-621)aaafs	p.K207fs	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	207					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						CTTTCAAATGTAAAAAATGTGG	0.292																																						ENST00000311048.7																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(616-621)tgaaaafs		zinc finger protein 431																																				SO:0001589	frameshift_variant	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21365724_21365725insA	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"Zinc fingers, C2H2-type", "-"	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.624dupA	19.37:g.21365730_21365730dupA	ENSP00000308578:p.Lys207fs					ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	p.*K206fs	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN			5	762_763	+			206					A8KAK7|Q8IWC4	Frame_Shift_Ins	INS	ENST00000311048.7	37	c.618_619insA	CCDS32979.1																																																																																				0.292	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		21	49						21	49	---	---	---	---	A	21365725	-	A	21365724	7	5	435	1	0	1	1	0	0	0	0	0	17902	1644	57	0	636	0	ZNF431	19	21365724	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	536538	21365724	37763259	8171	29096											
ZNF429	353088	broad.mit.edu	37	chr19	21719314	21719314	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatatatatgtaaaagtCttttatgcattttcaaatgc	13	18	6	4	0	2	1	1	1	1	0	2	1	2	1	0	0	2	2	0	0	7	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:21719314C>A	ENST00000358491.4	+	4	667	c.459C>A	c.(457-459)gtC>gtA	p.V153V	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ATGTAAAAGTCTTTTATGCAT	0.333																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(457-459)gtC>gtA		zinc finger protein 429							49	51	50					19																	21719314		2152	4282	6434	SO:0001819	synonymous_variant	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21719314C>A	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.459C>A	19.37:g.21719314C>A						ZNF429_ENST00000597078.1_Intron	p.V153V	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	667	+			153					A6NLV7|Q9BZE6	Silent	SNP	ENST00000358491.4	37	c.459C>A	CCDS42537.1																																																																																				0.333	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		19	23	1	0	3.99206e-14	1	4.34914e-14	19	23					A	21719314	C	A	21719314	2	1	435	1	0	0	0	0	0	0	0	1	17899	900	32	5		5	ZNF429	19	21719314	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	353590	21719314	37409669	8172	29097											
ZNF429	353088	broad.mit.edu	37	chr19	21720843	21720843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgggaggcagaggtgggcGgatcacgaggtcaggagatc	9	7	19	6	2	2	2	2	0	0	2	3	6	2	4	0	7	0	1	0	7	0	1	rs368726828		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:21720843G>A	ENST00000358491.4	+	4	2196	c.1988G>A	c.(1987-1989)cGg>cAg	p.R663Q	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	663					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						agaggtgggcggatcacgagg	0.453																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(1987-1989)cGg>cAg		zinc finger protein 429		G	GLN/ARG	0,3756		0,0,1878	23	23	23		1988	-0.8	0	19		23	2,8216		0,2,4107	no	missense	ZNF429	NM_001001415.2	43	0,2,5985	AA,AG,GG		0.0243,0.0,0.0167	benign	663/675	21720843	2,11972	1878	4109	5987	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720843G>A	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1988G>A	19.37:g.21720843G>A	ENSP00000351280:p.Arg663Gln					ZNF429_ENST00000597078.1_Intron	p.R663Q	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	2196	+			663					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.1988G>A	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	1.520	-0.547216	0.04024	0.0	2.43E-4	ENSG00000197013	ENST00000358491	T	0.50548	0.74	0.418	-0.836	0.10770	.	.	.	.	.	T	0.25827	0.0629	L	0.33339	1.005	0.09310	N	1	P	0.37594	0.601	B	0.25506	0.061	T	0.10590	-1.0623	9	0.59425	D	0.04	.	2.5455	0.04736	0.2633:0.3028:0.4338:0.0	.	663	Q86V71	ZN429_HUMAN	Q	663	ENSP00000351280:R663Q	ENSP00000351280:R663Q	R	+	2	0	ZNF429	21512683	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.498000	0.06420	-0.643000	0.05473	-0.706000	0.03657	CGG		0.453	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		13	37	0	0	0	1	0	13	37					A	21720843	G	A	21720843	3	1	435	1	0	0	0	0	1	0	0	0	17899	1116	39	2	2002	2	ZNF429	19	21720843	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1529	21720843	37408140	8173	29098											
ZNF43	7594	broad.mit.edu	37	chr19	21990620	21990620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggaatagttaaatgctttgCcacattcttcacatttgtag	12	15	7	7	0	2	0	1	0	1	0	2	1	2	1	1	1	2	3	1	1	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:21990620C>T	ENST00000354959.4	-	4	2388	c.2219G>A	c.(2218-2220)gGc>gAc	p.G740D	ZNF43_ENST00000595461.1_Missense_Mutation_p.G734D|ZNF43_ENST00000598381.1_Missense_Mutation_p.G734D|ZNF43_ENST00000594012.1_Missense_Mutation_p.G734D	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	740					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		AAATGCTTTGCCACATTCTTC	0.348																																						ENST00000594012.1																			0				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						c.(2200-2202)gGc>gAc		zinc finger protein 43							68	73	71					19																	21990620		2203	4300	6503	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21990620C>T	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2219G>A	19.37:g.21990620C>T	ENSP00000347045:p.Gly740Asp					ZNF43_ENST00000598381.1_Missense_Mutation_p.G734D|ZNF43_ENST00000595461.1_Missense_Mutation_p.G734D|ZNF43_ENST00000354959.4_Missense_Mutation_p.G740D	p.G734D	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2715	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	740					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.2201G>A	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262147	0.23051	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.58358	0.34	1.76	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56746	0.2006	L	0.31157	0.91	0.34717	D	0.728352	D	0.89917	1.0	D	0.71184	0.972	T	0.66077	-0.6013	9	0.59425	D	0.04	.	10.4707	0.44635	0.0:1.0:0.0:0.0	.	740	P17038	ZNF43_HUMAN	D	739;740	ENSP00000347045:G740D	ENSP00000347045:G740D	G	-	2	0	ZNF43	21782460	0.081000	0.21417	0.180000	0.23079	0.132000	0.20833	0.636000	0.24644	0.976000	0.38417	0.305000	0.20034	GGC		0.348	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		22	41	0	0	0	1	0	22	41					T	21990620	C	T	21990620	3	4	435	1	0	0	0	0	1	0	0	0	17900	739	26	3	214	3	ZNF43	19	21990620	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	269777	21990620	37138363	8174	29099											
ZNF208	7757	broad.mit.edu	37	chr19	22154228	22154228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggccacttataggctttgCcacattcttcacatttgtag	9	14	8	10	0	2	0	1	0	1	0	2	0	2	0	2	2	1	2	2	2	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:22154228C>T	ENST00000397126.4	-	4	3756	c.3608G>A	c.(3607-3609)gGc>gAc	p.G1203D	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)				ATAGGCTTTGCCACATTCTTC	0.383																																						ENST00000397126.4																			0				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						c.(3607-3609)gGc>gAc		zinc finger protein 208							34	36	36					19																	22154228		2115	4241	6356	SO:0001583	missense	7757							g.chr19:22154228C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3608G>A	19.37:g.22154228C>T	ENSP00000380315:p.Gly1203Asp					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.G1203D	NM_007153.3	NP_009084.2					4	3756	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.3608G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754451	0.49362	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.20069	2.1	2.92	-0.641	0.11490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22126	0.0533	.	.	.	0.23510	N	0.997525	P	0.48503	0.911	P	0.48368	0.575	T	0.14727	-1.0462	8	0.52906	T	0.07	.	6.8991	0.24273	0.0:0.649:0.0:0.351	.	1075	O43345	ZN208_HUMAN	D	1203;1075	ENSP00000380315:G1203D	ENSP00000380315:G1203D	G	-	2	0	ZNF208	21946068	0.015000	0.18098	0.000000	0.03702	0.018000	0.09664	0.482000	0.22276	-0.128000	0.11641	0.196000	0.17591	GGC		0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		22	50	0	0	0	1	0	22	50					T	22154228	C	T	22154228	3	4	435	1	0	0	0	0	1	0	0	0	17763	739	26	3	238	3	ZNF208	19	22154228	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	163608	22154228	36974755	8175	29100											
ZNF257	113835	broad.mit.edu	37	chr19	22272129	22272129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtggcaagccttttaatcGtttctcataccttaccgtac	9	15	6	11	2	1	0	1	0	1	0	3	0	1	0	3	1	4	3	3	1	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:22272129G>A	ENST00000594947.1	+	4	1721	c.1577G>A	c.(1576-1578)cGt>cAt	p.R526H		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	526				R -> T (in Ref. 1; AAD20957). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R526H(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCTTTTAATCGTTTCTCATAC	0.398																																						ENST00000594947.1																			1	Substitution - Missense(1)	p.R526H(1)	breast(1)	haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.(1576-1578)cGt>cAt		zinc finger protein 257							36	40	39					19																	22272129		2102	4257	6359	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22272129G>A	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1577G>A	19.37:g.22272129G>A	ENSP00000470209:p.Arg526His						p.R526H	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN			4	1721	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	526	R -> T (in Ref. 1; AAD20957).				B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.1577G>A	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	2.281	-0.364736	0.05103	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-2.23	0.06930	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17408	0.0418	N	0.25286	0.73	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.25745	-1.0123	8	0.16896	T	0.51	.	2.808	0.05433	0.6037:0.0:0.1779:0.2184	.	526	Q9Y2Q1	ZN257_HUMAN	H	526;498	.	ENSP00000380312:R498H	R	+	2	0	ZNF257	22063969	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	-5.288000	0.00134	-1.402000	0.02056	-0.657000	0.03884	CGT		0.398	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			18	30	0	0	0	1	0	18	30					A	22272129	G	A	22272129	3	1	435	1	0	0	0	0	1	0	0	0	17797	1145	40	1	1591	1	ZNF257	19	22272129	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	117901	22272129	36856854	8176	29101											
ZNF99	7652	broad.mit.edu	37	chr19	22939742	22939742	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacttaaaagctttaccAcattcttcacatttgtatgg	12	14	5	10	0	2	0	1	0	1	0	2	1	2	0	2	1	2	2	2	1	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:22939742A>G	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Splice_Site_p.C863C	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGCTTTACCACATTCTTCAC	0.353																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.e6+1		zinc finger protein 99							40	43	42					19																	22939742		2059	4215	6274	SO:0001628	intergenic_variant	7652							g.chr19:22939742A>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939742A>G							p.C863_splice							6	2588	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Splice_Site	SNP	ENST00000596209.1	37	c.2590_splice	CCDS59369.1																																																																																				0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		22	37	0	0	0	1	0	22	37					G	22939742	A	G	22939742	1	3	435	0	1	0	0	0	0	0	0	0	18201	173	6	4		4	ZNF99	19	22939742	IGR	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	667613	22939742	36189241	8177	29102											
ZNF99	7652	broad.mit.edu	37	chr19	22940490	22940490	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgaggaccacttaaaagCtttaccacattcttcacatt	12	15	4	10	0	2	1	1	1	1	0	2	2	2	2	2	1	2	1	2	1	3	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:22940490C>A	ENST00000596209.1	-	4	2311	c.2221G>T	c.(2221-2223)Gct>Tct	p.A741S	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.A650S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	741					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACTTAAAAGCTTTACCACAT	0.373																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1948-1950)Gct>Tct		zinc finger protein 99							25	26	26					19																	22940490		1874	3996	5870	SO:0001583	missense	7652							g.chr19:22940490C>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2221G>T	19.37:g.22940490C>A	ENSP00000472969:p.Ala741Ser					ZNF99_ENST00000596209.1_Missense_Mutation_p.A741S	p.A650S							5	1947	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1948G>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	9.841	1.191107	0.21954	.	.	ENSG00000213973	ENST00000397104	T	0.13420	2.59	0.726	-0.713	0.11223	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11324	0.0276	N	0.04260	-0.245	0.09310	N	1	D	0.62365	0.991	P	0.62491	0.903	T	0.28744	-1.0034	9	0.33940	T	0.23	.	6.1973	0.20557	0.472:0.528:0.0:0.0	.	650	A8MXY4	ZNF99_HUMAN	S	650	ENSP00000380293:A650S	ENSP00000380293:A650S	A	-	1	0	ZNF99	22732330	0.000000	0.05858	0.003000	0.11579	0.037000	0.13140	-0.992000	0.03724	-0.179000	0.10654	0.400000	0.26472	GCT		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		17	34	1	0	1.56452e-12	1	1.69366e-12	17	34					A	22940490	C	A	22940490	3	1	435	1	0	0	0	0	1	0	0	0	18201	797	28	5	1176	5	ZNF99	19	22940490	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	748	22940490	36188493	8178	29103											
ZNF91	7644	broad.mit.edu	37	chr19	23542635	23542635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacattcttcacacttgtaaGgtttctctccagtatgaatt	10	16	5	10	0	3	1	1	1	2	0	5	1	4	1	1	1	0	3	1	1	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:23542635G>T	ENST00000300619.7	-	4	3351	c.3146C>A	c.(3145-3147)cCt>cAt	p.P1049H	ZNF91_ENST00000397082.2_Missense_Mutation_p.P1017H|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1049					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACACTTGTAAGGTTTCTCTCC	0.363																																						ENST00000300619.7																			0											c.(3145-3147)cCt>cAt		zinc finger protein 91							65	70	68					19																	23542635		2189	4296	6485	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23542635G>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3146C>A	19.37:g.23542635G>T	ENSP00000300619:p.Pro1049His					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.P1017H	p.P1049H	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	3351	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	1049					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.3146C>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252099	0.22880	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17528	2.27;2.27	1.31	1.31	0.21738	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35624	0.0938	M	0.76574	2.34	0.18873	N	0.999982	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.07366	-1.0776	9	0.66056	D	0.02	.	4.9555	0.14036	0.2125:0.0:0.7875:0.0	.	1017;1049	Q05481-2;Q05481	.;ZNF91_HUMAN	H	1049;1017	ENSP00000300619:P1049H;ENSP00000380272:P1017H	ENSP00000300619:P1049H	P	-	2	0	ZNF91	23334475	1.000000	0.71417	0.079000	0.20413	0.615000	0.37417	4.896000	0.63222	0.676000	0.31285	0.196000	0.17591	CCT		0.363	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		25	47	1	0	1.42536e-11	1	1.5349e-11	25	47					T	23542635	G	T	23542635	3	4	435	1	0	0	0	0	1	0	0	0	18197	1000	35	5	433	5	ZNF91	19	23542635	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	602145	23542635	35586348	8179	29104											
ZNF675	171392	broad.mit.edu	37	chr19	23836705	23836705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttaaaagcttttccacattCttcacatttgtagggttttt	9	19	6	7	0	2	0	1	0	1	0	3	0	3	0	1	1	1	4	1	1	3	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:23836705C>T	ENST00000359788.4	-	4	1198	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	344					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTTCCACATTCTTCACATTTG	0.388																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1030-1032)Gaa>Aaa		zinc finger protein 675							51	53	52					19																	23836705		2203	4300	6503	SO:0001583	missense	171392				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	g.chr19:23836705C>T		CCDS32981.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	30768	protein-coding gene	gene with protein product	"TRAF6 inhibitory zinc finger"					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1030G>A	19.37:g.23836705C>T	ENSP00000352836:p.Glu344Lys					ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	p.E344K	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	1198	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	344					Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.1030G>A	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	6.387	0.439535	0.12104	.	.	ENSG00000197372	ENST00000359788	T	0.07327	3.2	0.916	0.916	0.19373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12008	0.0292	L	0.34521	1.04	0.09310	N	1	P	0.49961	0.93	P	0.54372	0.75	T	0.21484	-1.0244	9	0.52906	T	0.07	.	8.5828	0.33640	0.0:1.0:0.0:0.0	.	344	Q8TD23	ZN675_HUMAN	K	344	ENSP00000352836:E344K	ENSP00000352836:E344K	E	-	1	0	ZNF675	23628545	0.000000	0.05858	0.458000	0.27068	0.457000	0.32468	-0.511000	0.06321	0.300000	0.22699	0.305000	0.20034	GAA		0.388	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		17	49	0	0	0	1	0	17	49					T	23836705	C	T	23836705	3	4	435	1	0	0	0	0	1	0	0	0	18079	922	32	3	680	3	ZNF675	19	23836705	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	294070	23836705	35292278	8180	29105											
ZNF536	9745	broad.mit.edu	37	chr19	30934839	30934839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgacatcgaggacgacGcccgcaagaaccgcaagtac	13	3	12	13	6	0	2	0	1	0	1	1	6	0	3	2	1	3	3	2	1	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:30934839G>A	ENST00000355537.3	+	2	517	c.370G>A	c.(370-372)Gcc>Acc	p.A124T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	124					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			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)					CGAGGACGACGCCCGCAAGAA	0.632																																						ENST00000355537.3																			0				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						c.(370-372)Gcc>Acc		zinc finger protein 536							67	53	58					19																	30934839		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934839G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.370G>A	19.37:g.30934839G>A	ENSP00000347730:p.Ala124Thr						p.A124T	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	517	+	Esophageal squamous(110;0.0834)		124					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.370G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417360	0.42918	.	.	ENSG00000198597	ENST00000355537	T	0.09255	3.0	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	N	0.14661	0.345	0.58432	D	0.999995	D;D	0.89917	0.991;1.0	P;D	0.87578	0.757;0.998	T	0.09596	-1.0667	10	0.38643	T	0.18	-28.7366	20.0693	0.97712	0.0:0.0:1.0:0.0	.	124;124	A7E228;O15090	.;ZN536_HUMAN	T	124	ENSP00000347730:A124T	ENSP00000347730:A124T	A	+	1	0	ZNF536	35626679	1.000000	0.71417	0.949000	0.38748	0.004000	0.04260	8.054000	0.89451	2.758000	0.94735	0.563000	0.77884	GCC		0.632	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		11	20	0	0	0	1	0	11	20					A	30934839	G	A	30934839	3	1	435	1	0	0	0	0	1	0	0	0	17971	1087	38	1	372	1	ZNF536	19	30934839	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7098134	30934839	28194144	8181	29106											
ZNF536	9745	broad.mit.edu	37	chr19	30935423	30935423	+	Silent	SNP	C	C	T																															gaggaggagctcatcagccaCgtggagaaggcacacatcac																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:30935423C>T	ENST00000355537.3	+	2	1101	c.954C>T	c.(952-954)caC>caT	p.H318H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	318					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			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)					TCATCAGCCACGTGGAGAAGG	0.667																																						ENST00000355537.3																			0				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						c.(952-954)caC>caT		zinc finger protein 536							87	97	94					19																	30935423		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935423C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.954C>T	19.37:g.30935423C>T							p.H318H	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1101	+	Esophageal squamous(110;0.0834)		318					A2RU18	Silent	SNP	ENST00000355537.3	37	c.954C>T	CCDS32984.1																																																																																				0.667	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		26	63	0	0	0	1	0	26	63					T	30935423	C	T	30935423	2	4	435	1	0	0	0	0	0	0	0	1	17971	535	19	1		1	ZNF536	19	30935423	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	584	30935423	28193560	8182	29107	136	2									
ZNF536	9745	broad.mit.edu	37	chr19	30935424	30935424	+	Missense_Mutation	SNP	G	G	A																															aggaggagctcatcagccacGtggagaaggcacacatcacg																								rs142265762		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:30935424G>A	ENST00000355537.3	+	2	1102	c.955G>A	c.(955-957)Gtg>Atg	p.V319M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	319					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.V319L(1)|p.V319M(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CATCAGCCACGTGGAGAAGGC	0.667																																						ENST00000355537.3																			2	Substitution - Missense(2)	p.V319L(1)|p.V319M(1)	large_intestine(1)|lung(1)	NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(955-957)Gtg>Atg		zinc finger protein 536		G	MET/VAL	0,4406		0,0,2203	88	98	95		955	5.6	1	19	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF536	NM_014717.1	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	319/1301	30935424	1,13005	2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935424G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.955G>A	19.37:g.30935424G>A	ENSP00000347730:p.Val319Met						p.V319M	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1102	+	Esophageal squamous(110;0.0834)		319					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.955G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882687	0.33255	0.0	1.16E-4	ENSG00000198597	ENST00000355537	T	0.27720	1.65	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.35248	0.0925	N	0.04787	-0.16	0.51482	D	0.999927	D;D	0.89917	0.999;1.0	D;D	0.97110	0.963;1.0	T	0.36237	-0.9756	10	0.18710	T	0.47	-33.4233	19.5661	0.95393	0.0:0.0:1.0:0.0	.	319;319	A7E228;O15090	.;ZN536_HUMAN	M	319	ENSP00000347730:V319M	ENSP00000347730:V319M	V	+	1	0	ZNF536	35627264	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.024000	0.88770	2.631000	0.89168	0.491000	0.48974	GTG		0.667	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		26	62	0	0	0	1	0	26	62					A	30935424	G	A	30935424	3	1	435	1	0	0	0	0	1	0	0	0	17971	1145	40	1	957	1	ZNF536	19	30935424	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1	30935424	28193559	8183	29108	136	2									
ZNF536	9745	broad.mit.edu	37	chr19	30936384	30936384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgccccgactgcggccggGtgttccgcacttaccaccag	6	7	12	16	4	0	0	0	0	0	0	1	1	1	0	6	2	3	2	6	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:30936384G>A	ENST00000355537.3	+	2	2062	c.1915G>A	c.(1915-1917)Gtg>Atg	p.V639M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	639					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			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)					CTGCGGCCGGGTGTTCCGCAC	0.632																																						ENST00000355537.3																			0				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						c.(1915-1917)Gtg>Atg		zinc finger protein 536							81	92	88					19																	30936384		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936384G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1915G>A	19.37:g.30936384G>A	ENSP00000347730:p.Val639Met						p.V639M	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	2062	+	Esophageal squamous(110;0.0834)		639					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1915G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926589	0.52759	.	.	ENSG00000198597	ENST00000355537	T	0.53206	0.63	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.119454	0.56097	D	0.000030	T	0.59183	0.2175	L	0.31157	0.91	0.42513	D	0.992974	D;D	0.69078	0.997;0.997	D;D	0.68621	0.959;0.959	T	0.59899	-0.7367	10	0.52906	T	0.07	-36.3686	19.796	0.96484	0.0:0.0:1.0:0.0	.	639;639	A7E228;O15090	.;ZN536_HUMAN	M	639	ENSP00000347730:V639M	ENSP00000347730:V639M	V	+	1	0	ZNF536	35628224	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	6.334000	0.72944	2.659000	0.90383	0.655000	0.94253	GTG		0.632	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		44	51	0	0	0	1	0	44	51					A	30936384	G	A	30936384	3	1	435	1	0	0	0	0	1	0	0	0	17971	1261	44	3	1917	3	ZNF536	19	30936384	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	960	30936384	28192599	8184	29109											
ZNF536	9745	broad.mit.edu	37	chr19	31039262	31039262	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcattgtgagcaacggtgtGaatttccaagggtccttgca	10	11	12	8	1	0	2	0	2	0	0	2	2	2	2	2	2	4	3	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:31039262G>A	ENST00000355537.3	+	4	2883	c.2736G>A	c.(2734-2736)gtG>gtA	p.V912V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	912					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			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)					GCAACGGTGTGAATTTCCAAG	0.498																																						ENST00000355537.3																			0				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						c.(2734-2736)gtG>gtA		zinc finger protein 536							182	187	185					19																	31039262		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039262G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2736G>A	19.37:g.31039262G>A							p.V912V	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	2883	+	Esophageal squamous(110;0.0834)		912					A2RU18	Silent	SNP	ENST00000355537.3	37	c.2736G>A	CCDS32984.1																																																																																				0.498	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		89	100	0	0	0	1	0	89	100					A	31039262	G	A	31039262	2	1	435	1	0	0	0	0	0	0	0	1	17971	1277	45	3		3	ZNF536	19	31039262	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	102878	31039262	28089721	8185	29110											
TSHZ3	57616	broad.mit.edu	37	chr19	31769229	31769229	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctcttcttcgccaggCttgtctttttgcttaggttt	2	21	7	11	1	4	0	0	0	4	0	6	0	4	0	2	2	1	3	2	2	1	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:31769229C>T	ENST00000240587.4	-	2	1797	c.1470G>A	c.(1468-1470)aaG>aaA	p.K490K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	490					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)					CTTCGCCAGGCTTGTCTTTTT	0.468																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1468-1470)aaG>aaA		teashirt zinc finger homeobox 3							186	189	188					19																	31769229		2203	4300	6503	SO:0001819	synonymous_variant	57616				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	g.chr19:31769229C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1470G>A	19.37:g.31769229C>T							p.K490K	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1797	-	Esophageal squamous(110;0.226)		490					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.1470G>A	CCDS12421.2																																																																																				0.468	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		66	129	0	0	0	1	0	66	129					T	31769229	C	T	31769229	2	4	435	1	0	0	0	0	0	0	0	1	16622	796	28	3		3	TSHZ3	19	31769229	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	729967	31769229	27359754	8186	29111											
ZNF507	22847	broad.mit.edu	37	chr19	32845370	32845370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgtactcaaaaatgatgtCgccacttaaaaactcttcag	15	10	6	10	2	3	1	2	1	1	0	4	1	3	1	1	0	3	1	1	0	6	3	rs146402867	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:32845370C>T	ENST00000311921.4	+	2	1826	c.1634C>T	c.(1633-1635)tCg>tTg	p.S545L	ZNF507_ENST00000355898.5_Missense_Mutation_p.S545L|ZNF507_ENST00000544431.1_Missense_Mutation_p.S545L	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	545					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S545L(1)		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)					AAAATGATGTCGCCACTTAAA	0.443													C|||	4	0.000798722	0	0	5008	,	,		20784	0.004		0	False		,,,				2504	0					ENST00000311921.3																			1	Substitution - Missense(1)	p.S545L(1)	large_intestine(1)	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						c.(1633-1635)tCg>tTg		zinc finger protein 507							74	77	76					19																	32845370		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32845370C>T	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1634C>T	19.37:g.32845370C>T	ENSP00000312277:p.Ser545Leu					ZNF507_ENST00000544431.1_Missense_Mutation_p.S545L|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.S545L	p.S545L	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			2	1826	+	Esophageal squamous(110;0.162)		545					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.1634C>T	CCDS32985.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	17.42	3.385557	0.61956	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.07567	3.48;3.48;3.18	5.79	5.79	0.91817	.	0.166320	0.53938	D	0.000056	T	0.19685	0.0473	M	0.64997	1.995	0.32616	N	0.524006	B;D	0.89917	0.193;1.0	B;D	0.67900	0.013;0.954	T	0.01829	-1.1265	10	0.28530	T	0.3	.	20.0474	0.97616	0.0:1.0:0.0:0.0	.	545;545	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	L	545	ENSP00000348162:S545L;ENSP00000312277:S545L;ENSP00000441549:S545L	ENSP00000312277:S545L	S	+	2	0	ZNF507	37537210	1.000000	0.71417	0.971000	0.41717	0.986000	0.74619	5.673000	0.68109	2.722000	0.93159	0.655000	0.94253	TCG		0.443	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		20	44	0	0	0	1	0	20	44					T	32845370	C	T	32845370	3	4	435	1	0	0	0	0	1	0	0	0	17950	893	31	2	1636	2	ZNF507	19	32845370	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1076141	32845370	26283613	8187	29112											
ANKRD27	84079	broad.mit.edu	37	chr19	33089255	33089255	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagctggcaggttattCtgtctcagtgtgacactttg	6	15	11	9	0	3	2	1	2	3	0	4	2	3	2	0	2	1	3	0	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33089255C>A	ENST00000306065.4	-	29	3107	c.2949G>T	c.(2947-2949)caG>caT	p.Q983H		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	983					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GCAGGTTATTCTGTCTCAGTG	0.517																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(2947-2949)caG>caT		ankyrin repeat domain 27 (VPS9 domain)							133	120	125					19																	33089255		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33089255C>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.2949G>T	19.37:g.33089255C>A	ENSP00000304292:p.Gln983His						p.Q983H	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			29	3107	-	Esophageal squamous(110;0.137)		983					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.2949G>T	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	C	8.585	0.883172	0.17467	.	.	ENSG00000105186	ENST00000306065	T	0.62364	0.03	4.54	-0.0764	0.13723	.	0.426666	0.17403	N	0.175473	T	0.43055	0.1230	L	0.33485	1.01	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19614	-1.0300	10	0.34782	T	0.22	-2.3492	4.9055	0.13797	0.0:0.4715:0.3391:0.1894	.	983	Q96NW4	ANR27_HUMAN	H	983	ENSP00000304292:Q983H	ENSP00000304292:Q983H	Q	-	3	2	ANKRD27	37781095	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	-0.002000	0.12924	0.102000	0.17638	-0.136000	0.14681	CAG		0.517	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		45	84	1	0	8.04919e-23	1	8.95685e-23	45	84					A	33089255	C	A	33089255	3	1	435	1	0	0	0	0	1	0	0	0	655	912	32	5	207	5	ANKRD27	19	33089255	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	243885	33089255	26039728	8188	29113											
ANKRD27	84079	broad.mit.edu	37	chr19	33134217	33134217	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcctccatggtccccacGtatttaaagatcaggttgta	9	13	8	11	1	1	1	1	0	0	1	3	1	3	1	4	2	1	3	4	2	4	6	rs200412555		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33134217G>A	ENST00000306065.4	-	8	839	c.681C>T	c.(679-681)taC>taT	p.Y227Y	ANKRD27_ENST00000587352.1_Silent_p.Y227Y	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	227					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TGGTCCCCACGTATTTAAAGA	0.453																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(679-681)taC>taT		ankyrin repeat domain 27 (VPS9 domain)							130	131	130					19																	33134217		2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33134217G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.681C>T	19.37:g.33134217G>A						ANKRD27_ENST00000587352.1_Silent_p.Y227Y	p.Y227Y	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			8	839	-	Esophageal squamous(110;0.137)		227					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.681C>T	CCDS32986.1																																																																																				0.453	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		56	83	0	0	0	1	0	56	83					A	33134217	G	A	33134217	2	1	435	1	0	0	0	0	0	0	0	1	655	1140	40	1		1	ANKRD27	19	33134217	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44962	33134217	25994766	8189	29114											
ANKRD27	84079	broad.mit.edu	37	chr19	33135305	33135305	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgatgttcctgtcaaatcGctcggagtgtcttcccaaga	8	11	11	11	3	2	1	1	0	1	1	6	3	4	2	2	2	0	2	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33135305G>A	ENST00000306065.4	-	5	609	c.451C>T	c.(451-453)Cga>Tga	p.R151*	ANKRD27_ENST00000587352.1_Nonsense_Mutation_p.R151*	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	151					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTGTCAAATCGCTCGGAGTGT	0.493																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(451-453)Cga>Tga		ankyrin repeat domain 27 (VPS9 domain)							271	271	271					19																	33135305		2203	4300	6503	SO:0001587	stop_gained	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33135305G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.451C>T	19.37:g.33135305G>A	ENSP00000304292:p.Arg151*					ANKRD27_ENST00000587352.1_Nonsense_Mutation_p.R151*|ANKRD27_ENST00000586693.2_5'UTR	p.R151*	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			5	609	-	Esophageal squamous(110;0.137)		151					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Nonsense_Mutation	SNP	ENST00000306065.4	37	c.451C>T	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903422	0.92035	.	.	ENSG00000105186	ENST00000306065	.	.	.	5.61	3.46	0.39613	.	0.349077	0.26362	N	0.024811	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2186	12.4471	0.55657	0.0:0.0:0.2771:0.7229	.	.	.	.	X	151	.	ENSP00000304292:R151X	R	-	1	2	ANKRD27	37827145	1.000000	0.71417	0.221000	0.23827	0.277000	0.26821	3.326000	0.52037	0.398000	0.25338	-0.538000	0.04264	CGA		0.493	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		55	214	0	0	0	1	0	55	214					A	33135305	G	A	33135305	4	1	435	1	0	0	0	0	0	1	0	0	655	1095	38	1	2801	1	ANKRD27	19	33135305	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1088	33135305	25993678	8190	29115											
ANKRD27	84079	broad.mit.edu	37	chr19	33137498	33137498	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaccagctcctaatttaatCctgttcccttgaataaagac	14	12	4	11	0	0	2	0	1	0	1	3	2	3	2	4	0	2	2	4	0	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33137498C>T	ENST00000306065.4	-	4	395	c.237G>A	c.(235-237)agG>agA	p.R79R	ANKRD27_ENST00000587352.1_Silent_p.R79R	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	79					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTAATTTAATCCTGTTCCCTT	0.478																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(235-237)agG>agA		ankyrin repeat domain 27 (VPS9 domain)							73	72	72					19																	33137498		2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33137498C>T	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.237G>A	19.37:g.33137498C>T						ANKRD27_ENST00000587352.1_Silent_p.R79R|ANKRD27_ENST00000586693.2_5'UTR	p.R79R	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			4	395	-	Esophageal squamous(110;0.137)		79					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.237G>A	CCDS32986.1																																																																																				0.478	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		11	25	0	0	0	1	0	11	25					T	33137498	C	T	33137498	2	4	435	1	0	0	0	0	0	0	0	1	655	854	30	3		3	ANKRD27	19	33137498	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2193	33137498	25991485	8191	29116											
C19orf40	91442	broad.mit.edu	37	chr19	33464132	33464132	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacccccctgatgatacgggCcccgtgcacgtgcctttggg	6	8	12	15	3	0	2	0	2	0	0	0	2	0	2	6	2	4	1	6	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33464132C>A	ENST00000588258.1	+	2	140	c.30C>A	c.(28-30)ggC>ggA	p.G10G	CEP89_ENST00000590597.2_5'Flank|CEP89_ENST00000305768.5_5'Flank|C19orf40_ENST00000589646.1_Intron|CEP89_ENST00000591863.1_5'Flank|C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000590281.1_Silent_p.G10G	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	10					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					ATGATACGGGCCCCGTGCACG	0.617								Direct reversal of damage																														ENST00000588258.1																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(28-30)ggC>ggA	Direct reversal of damage	chromosome 19 open reading frame 40							76	74	75					19																	33464132		2203	4300	6503	SO:0001819	synonymous_variant	91442				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr19:33464132C>A	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 24kDa"	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.30C>A	19.37:g.33464132C>A						C19orf40_ENST00000589646.1_Intron|C19orf40_ENST00000590281.1_Silent_p.G10G|C19orf40_ENST00000590179.1_Intron	p.G10G	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN			2	140	+	Esophageal squamous(110;0.137)		10					B3KY46|Q8WUJ7|Q96FX6	Silent	SNP	ENST00000588258.1	37	c.30C>A	CCDS12426.1																																																																																				0.617	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266		20	29	1	0	2.37509e-13	1	2.57931e-13	20	29					A	33464132	C	A	33464132	2	1	435	1	0	0	0	0	0	0	0	1	1923	726	26	5		5	C19orf40	19	33464132	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	326634	33464132	25664851	8192	29117											
C19orf40	91442	broad.mit.edu	37	chr19	33465049	33465049	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctacagaagtttactgtGctggaccttggaatggtgct	8	12	12	9	0	0	1	0	0	0	1	0	3	0	3	2	3	4	3	2	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33465049G>A	ENST00000588258.1	+	4	437	c.327G>A	c.(325-327)gtG>gtA	p.V109V	CEP89_ENST00000590597.2_5'Flank|CEP89_ENST00000305768.5_5'Flank|C19orf40_ENST00000589646.1_Silent_p.V14V|CEP89_ENST00000591863.1_5'Flank|C19orf40_ENST00000590179.1_Silent_p.V14V|C19orf40_ENST00000590281.1_Silent_p.V109V	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	109					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					AGTTTACTGTGCTGGACCTTG	0.468								Direct reversal of damage																														ENST00000588258.1																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(325-327)gtG>gtA	Direct reversal of damage	chromosome 19 open reading frame 40							100	86	91					19																	33465049		2203	4300	6503	SO:0001819	synonymous_variant	91442				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr19:33465049G>A	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 24kDa"	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.327G>A	19.37:g.33465049G>A						C19orf40_ENST00000589646.1_Silent_p.V14V|C19orf40_ENST00000590281.1_Silent_p.V109V|C19orf40_ENST00000590179.1_Silent_p.V14V	p.V109V	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN			4	437	+	Esophageal squamous(110;0.137)		109					B3KY46|Q8WUJ7|Q96FX6	Silent	SNP	ENST00000588258.1	37	c.327G>A	CCDS12426.1																																																																																				0.468	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266		26	36	0	0	0	1	0	26	36					A	33465049	G	A	33465049	2	1	435	1	0	0	0	0	0	0	0	1	1923	1306	46	3		3	C19orf40	19	33465049	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	917	33465049	25663934	8193	29118											
LRP3	4037	broad.mit.edu	37	chr19	33696659	33696659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagacgctgtcctaccGcagcaaccaccggcccgtga	8	5	11	17	4	0	2	0	1	0	1	1	2	1	2	5	1	4	5	5	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33696659G>A	ENST00000253193.7	+	5	1185	c.983G>A	c.(982-984)cGc>cAc	p.R328H	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	328	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CTGTCCTACCGCAGCAACCAC	0.716																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(982-984)cGc>cAc		low density lipoprotein receptor-related protein 3							7	10	9					19																	33696659		2110	4158	6268	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33696659G>A	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.983G>A	19.37:g.33696659G>A	ENSP00000253193:p.Arg328His						p.R328H	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			5	1185	+	Esophageal squamous(110;0.137)		328			CUB 2.		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.983G>A	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	9.561	1.118524	0.20877	.	.	ENSG00000130881	ENST00000431491;ENST00000253193	T	0.51071	0.72	5.02	5.02	0.67125	CUB (5);	0.061464	0.64402	D	0.000002	T	0.23289	0.0563	N	0.10874	0.06	0.36060	D	0.841357	B;B;B	0.26363	0.147;0.001;0.079	B;B;B	0.20184	0.028;0.001;0.009	T	0.26258	-1.0108	10	0.14656	T	0.56	-42.6977	7.3576	0.26727	0.1889:0.0:0.8111:0.0	.	202;328;246	C9J8W0;O75074;B7ZAJ9	.;LRP3_HUMAN;.	H	202;328	ENSP00000253193:R328H	ENSP00000253193:R328H	R	+	2	0	LRP3	38388499	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	3.021000	0.49651	2.341000	0.79615	0.313000	0.20887	CGC		0.716	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			4	3	0	0	0	1	0	4	3					A	33696659	G	A	33696659	3	1	435	1	0	0	0	0	1	0	0	0	8958	1087	38	1	1001	1	LRP3	19	33696659	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	231610	33696659	25432324	8194	29119											
LRP3	4037	broad.mit.edu	37	chr19	33697049	33697049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcttctcctgccagcccgGcaccttccactgcggtacca	5	9	8	19	2	1	0	0	0	1	0	3	0	2	0	6	2	5	3	6	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33697049G>A	ENST00000253193.7	+	5	1575	c.1373G>A	c.(1372-1374)gGc>gAc	p.G458D	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	458	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.			G -> D (in Ref. 4; BAG51998). {ECO:0000305}.	receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TGCCAGCCCGGCACCTTCCAC	0.642																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(1372-1374)gGc>gAc		low density lipoprotein receptor-related protein 3							34	32	32					19																	33697049		2202	4300	6502	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33697049G>A	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1373G>A	19.37:g.33697049G>A	ENSP00000253193:p.Gly458Asp						p.G458D	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			5	1575	+	Esophageal squamous(110;0.137)		458	G -> D (in Ref. 4; BAG51998).		LDL-receptor class A 4.		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.1373G>A	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811535	0.70797	.	.	ENSG00000130881	ENST00000253193	D	0.95103	-3.61	5.35	5.35	0.76521	.	0.056570	0.64402	D	0.000001	D	0.95242	0.8457	L	0.35593	1.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93838	0.7134	10	0.25751	T	0.34	-23.1434	18.0406	0.89318	0.0:0.0:1.0:0.0	.	458;376	O75074;B7ZAJ9	LRP3_HUMAN;.	D	458	ENSP00000253193:G458D	ENSP00000253193:G458D	G	+	2	0	LRP3	38388889	1.000000	0.71417	0.994000	0.49952	0.439000	0.31926	9.815000	0.99349	2.518000	0.84900	0.491000	0.48974	GGC		0.642	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			8	3	0	0	0	1	0	8	3					A	33697049	G	A	33697049	3	1	435	1	0	0	0	0	1	0	0	0	8958	1203	42	3	1391	3	LRP3	19	33697049	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	390	33697049	25431934	8195	29120											
SLC7A10	56301	broad.mit.edu	37	chr19	33702165	33702165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtaaccattgatccctcCgaaggttgacagagccacgg	11	7	11	12	2	0	3	0	2	0	1	2	4	2	3	4	3	2	2	4	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33702165C>T	ENST00000253188.4	-	7	1128	c.982G>A	c.(982-984)Gga>Aga	p.G328R		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	328					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					TTGATCCCTCCGAAGGTTGAC	0.587																																						ENST00000253188.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.(982-984)Gga>Aga		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10							93	77	82					19																	33702165		2203	4300	6503	SO:0001583	missense	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33702165C>T	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"Solute carriers"	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.982G>A	19.37:g.33702165C>T	ENSP00000253188:p.Gly328Arg						p.G328R	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN			7	1128	-	Esophageal squamous(110;0.137)		328					B2RE84	Missense_Mutation	SNP	ENST00000253188.4	37	c.982G>A	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913620	0.72983	.	.	ENSG00000130876	ENST00000253188	D	0.92965	-3.14	5.45	5.45	0.79879	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97402	0.9150	H	0.95712	3.71	0.39563	D	0.96916	D	0.89917	1.0	D	0.80764	0.994	D	0.99308	1.0903	10	0.87932	D	0	.	18.2649	0.90049	0.0:1.0:0.0:0.0	.	328	Q9NS82	AAA1_HUMAN	R	328	ENSP00000253188:G328R	ENSP00000253188:G328R	G	-	1	0	SLC7A10	38394005	1.000000	0.71417	0.995000	0.50966	0.305000	0.27757	7.783000	0.85696	2.577000	0.86979	0.467000	0.42956	GGA		0.587	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		28	21	0	0	0	1	0	28	21					T	33702165	C	T	33702165	3	4	435	1	0	0	0	0	1	0	0	0	14693	661	23	2	609	2	SLC7A10	19	33702165	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5116	33702165	25426818	8196	29121											
CEBPG	1054	broad.mit.edu	37	chr19	33870419	33870419	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaagcacaagacacactgCagagagtcaatcagctcaaa	19	4	8	10	0	3	3	3	0	0	3	3	4	3	3	0	0	3	3	0	0	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33870419C>T	ENST00000284000.4	+	2	936	c.274C>T	c.(274-276)Cag>Tag	p.Q92*	CEBPG_ENST00000585933.2_Nonsense_Mutation_p.Q92*	NM_001806.3	NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma	92	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				B cell differentiation (GO:0030183)|enucleate erythrocyte differentiation (GO:0043353)|immune response (GO:0006955)|liver development (GO:0001889)|mRNA metabolic process (GO:0016071)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA repair (GO:0045739)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					AGACACACTGCAGAGAGTCAA	0.438																																						ENST00000284000.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7						c.(274-276)Cag>Tag		CCAAT/enhancer binding protein (C/EBP), gamma							98	86	90					19																	33870419		2203	4300	6503	SO:0001587	stop_gained	1054				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	g.chr19:33870419C>T	U20240	CCDS12432.1	19q13.2	2013-01-10				ENSG00000153879		"basic leucine zipper proteins"	1837	protein-coding gene	gene with protein product		138972				1884998	Standard	NM_001806		Approved	GPE1BP, IG/EBP-1	uc021usd.1	P53567		ENST00000284000.4:c.274C>T	19.37:g.33870419C>T	ENSP00000284000:p.Gln92*						p.Q92*	NM_001252296.1|NM_001806.3	NP_001239225.1|NP_001797.1	P53567	CEBPG_HUMAN			2	936	+	Esophageal squamous(110;0.137)		92					B2R946|Q5U052	Nonsense_Mutation	SNP	ENST00000284000.4	37	c.274C>T	CCDS12432.1	.	.	.	.	.	.	.	.	.	.	C	37	6.428537	0.97559	.	.	ENSG00000153879	ENST00000284000	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-17.4765	19.3504	0.94381	0.0:1.0:0.0:0.0	.	.	.	.	X	92	.	ENSP00000284000:Q92X	Q	+	1	0	CEBPG	38562259	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	7.711000	0.84669	2.885000	0.99019	0.655000	0.94253	CAG		0.438	CEBPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451427.2	NM_001806		9	13	0	0	0	1	0	9	13					T	33870419	C	T	33870419	4	4	435	1	0	0	0	0	0	1	0	0	3203	711	25	3	276	3	CEBPG	19	33870419	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	168254	33870419	25258564	8197	29122											
CHST8	64377	broad.mit.edu	37	chr19	34263822	34263822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccggttcaaggaccggCactcgcaggaggcgcggacc	7	4	14	16	5	1	0	1	0	0	0	3	3	2	3	4	6	0	3	4	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:34263822C>T	ENST00000262622.4	+	4	1887	c.1129C>T	c.(1129-1131)Cac>Tac	p.H377Y	CHST8_ENST00000434302.1_Missense_Mutation_p.H377Y|CHST8_ENST00000438847.3_Missense_Mutation_p.H377Y	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	377					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CAAGGACCGGCACTCGCAGGA	0.617																																						ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(1129-1131)Cac>Tac		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							50	48	49					19																	34263822		2203	4300	6503	SO:0001583	missense	64377				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	g.chr19:34263822C>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.1129C>T	19.37:g.34263822C>T	ENSP00000262622:p.His377Tyr					CHST8_ENST00000438847.2_Missense_Mutation_p.H377Y|CHST8_ENST00000434302.1_Missense_Mutation_p.H377Y	p.H377Y	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			4	1887	+	Esophageal squamous(110;0.162)		377					Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.1129C>T	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332636	0.60853	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.73469	-0.75;-0.75;-0.75	5.01	5.01	0.66863	.	0.061969	0.64402	D	0.000006	T	0.74861	0.3772	L	0.28458	0.855	0.41136	D	0.985923	P	0.46395	0.877	P	0.55667	0.781	T	0.70813	-0.4770	10	0.19590	T	0.45	-9.3628	17.2896	0.87152	0.0:1.0:0.0:0.0	.	377	Q9H2A9	CHST8_HUMAN	Y	377	ENSP00000392604:H377Y;ENSP00000393879:H377Y;ENSP00000262622:H377Y	ENSP00000262622:H377Y	H	+	1	0	CHST8	38955662	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	6.244000	0.72391	2.331000	0.79229	0.297000	0.19635	CAC		0.617	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		8	17	0	0	0	1	0	8	17					T	34263822	C	T	34263822	3	4	435	1	0	0	0	0	1	0	0	0	3410	710	25	3	1139	3	CHST8	19	34263822	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	393403	34263822	24865161	8198	29123											
KIAA0355	9710	broad.mit.edu	37	chr19	34791425	34791425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaatggactacaagcggcGcttcctgcttggcgggtcca	9	9	12	11	3	0	0	0	0	0	0	2	1	2	1	2	4	3	2	2	4	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:34791425G>A	ENST00000299505.6	+	2	920	c.47G>A	c.(46-48)cGc>cAc	p.R16H		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	16										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TACAAGCGGCGCTTCCTGCTT	0.597																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(46-48)cGc>cAc		KIAA0355							41	37	38					19																	34791425		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34791425G>A		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.47G>A	19.37:g.34791425G>A	ENSP00000299505:p.Arg16His						p.R16H	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			2	920	+	Esophageal squamous(110;0.162)		16					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.47G>A	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745988	0.89663	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71111	-0.4687	9	0.87932	D	0	-2.1836	19.2076	0.93739	0.0:0.0:1.0:0.0	.	16	O15063	K0355_HUMAN	H	16	.	ENSP00000299505:R16H	R	+	2	0	KIAA0355	39483265	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.607000	0.88179	0.561000	0.74099	CGC		0.597	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		14	22	0	0	0	1	0	14	22					A	34791425	G	A	34791425	3	1	435	1	0	0	0	0	1	0	0	0	8170	1087	38	1	49	1	KIAA0355	19	34791425	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	527603	34791425	24337558	8199	29124											
KIAA0355	9710	broad.mit.edu	37	chr19	34791438	34791438	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcggcgcttcctgcttggCgggtccaagcagaaggtgca	8	7	15	11	3	0	1	0	0	0	1	2	1	2	1	2	4	4	4	2	4	3	2	rs558834376	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:34791438C>T	ENST00000299505.6	+	2	933	c.60C>T	c.(58-60)ggC>ggT	p.G20G		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	20								p.G20G(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCCTGCTTGGCGGGTCCAAGC	0.622													C|||	3	0.000599042	0	0	5008	,	,		18118	0		0	False		,,,				2504	0.0031					ENST00000299505.6																			1	Substitution - coding silent(1)	p.G20G(1)	urinary_tract(1)	breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(58-60)ggC>ggT		KIAA0355							39	35	36					19																	34791438		2203	4300	6503	SO:0001819	synonymous_variant	9710							g.chr19:34791438C>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.60C>T	19.37:g.34791438C>T							p.G20G	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			2	933	+	Esophageal squamous(110;0.162)		20					Q2M3W4	Silent	SNP	ENST00000299505.6	37	c.60C>T	CCDS12436.1																																																																																				0.622	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		19	14	0	0	0	1	0	19	14					T	34791438	C	T	34791438	2	4	435	1	0	0	0	0	0	0	0	1	8170	755	27	1		1	KIAA0355	19	34791438	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13	34791438	24337545	8200	29125											
KIAA0355	9710	broad.mit.edu	37	chr19	34818459	34818459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacataaaaatcgacagtgCtttgcaagtaagtttttcag	15	12	8	6	1	1	0	1	0	0	0	2	2	1	0	0	0	3	4	0	0	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:34818459C>T	ENST00000299505.6	+	4	1712	c.839C>T	c.(838-840)gCt>gTt	p.A280V		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	280										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					ATCGACAGTGCTTTGCAAGTA	0.393																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(838-840)gCt>gTt		KIAA0355							103	114	110					19																	34818459		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34818459C>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.839C>T	19.37:g.34818459C>T	ENSP00000299505:p.Ala280Val						p.A280V	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			4	1712	+	Esophageal squamous(110;0.162)		280					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.839C>T	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116262	0.94339	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.46	5.46	0.80206	.	0.055502	0.64402	D	0.000001	T	0.50565	0.1623	L	0.29908	0.895	0.58432	D	0.999999	P	0.40180	0.705	B	0.38378	0.272	T	0.57306	-0.7834	9	0.87932	D	0	-1.8898	19.3067	0.94165	0.0:1.0:0.0:0.0	.	280	O15063	K0355_HUMAN	V	280	.	ENSP00000299505:A280V	A	+	2	0	KIAA0355	39510299	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.430000	0.80321	2.580000	0.87095	0.544000	0.68410	GCT		0.393	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		18	40	0	0	0	1	0	18	40					T	34818459	C	T	34818459	3	4	435	1	0	0	0	0	1	0	0	0	8170	797	28	3	849	3	KIAA0355	19	34818459	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27021	34818459	24310524	8201	29126											
KIAA0355	9710	broad.mit.edu	37	chr19	34818985	34818985	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctccccaccgtccctgtgCagataggatcgcacttcctg	7	9	9	16	2	0	1	0	0	0	1	4	2	3	2	5	1	2	3	5	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:34818985C>T	ENST00000299505.6	+	6	1906	c.1033C>T	c.(1033-1035)Cag>Tag	p.Q345*		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	345										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CGTCCCTGTGCAGATAGGATC	0.602																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(1033-1035)Cag>Tag		KIAA0355							69	71	70					19																	34818985		2203	4300	6503	SO:0001587	stop_gained	9710							g.chr19:34818985C>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1033C>T	19.37:g.34818985C>T	ENSP00000299505:p.Gln345*						p.Q345*	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			6	1906	+	Esophageal squamous(110;0.162)		345					Q2M3W4	Nonsense_Mutation	SNP	ENST00000299505.6	37	c.1033C>T	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	46	12.518326	0.99674	.	.	ENSG00000166398	ENST00000299505;ENST00000543188	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.2187	19.5227	0.95192	0.0:1.0:0.0:0.0	.	.	.	.	X	345;48	.	ENSP00000299505:Q345X	Q	+	1	0	KIAA0355	39510825	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.430000	0.80321	2.627000	0.88993	0.544000	0.68410	CAG		0.602	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		31	41	0	0	0	1	0	31	41					T	34818985	C	T	34818985	4	4	435	1	0	0	0	0	0	1	0	0	8170	711	25	3	1051	3	KIAA0355	19	34818985	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	526	34818985	24309998	8202	29127											
UBA2	10054	broad.mit.edu	37	chr19	34942995	34942995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttttcaaagagcatcgaGactttgagagttcatttagc	11	15	8	7	1	2	3	2	1	0	3	3	5	2	3	0	0	2	2	0	0	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:34942995G>A	ENST00000246548.4	+	10	1051	c.981G>A	c.(979-981)gaG>gaA	p.E327E	UBA2_ENST00000439527.2_Silent_p.E231E	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	327					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			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)			AGAGCATCGAGACTTTGAGAG	0.428																																						ENST00000439527.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(691-693)gaG>gaA		ubiquitin-like modifier activating enzyme 2							168	163	165					19																	34942995		2203	4300	6503	SO:0001819	synonymous_variant	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34942995G>A	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.981G>A	19.37:g.34942995G>A						UBA2_ENST00000246548.4_Silent_p.E327E	p.E231E			Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		10	1191	+	Esophageal squamous(110;0.162)		327					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Silent	SNP	ENST00000246548.4	37	c.693G>A	CCDS12439.1																																																																																				0.428	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		34	62	0	0	0	1	0	34	62					A	34942995	G	A	34942995	2	1	435	1	0	0	0	0	0	0	0	1	16825	933	33	3		3	UBA2	19	34942995	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	124010	34942995	24185988	8203	29128											
WTIP	126374	broad.mit.edu	37	chr19	34984203	34984203	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacggccgacaaatgcagCgtgtgtggacatctcatcat	11	8	11	11	3	2	1	2	0	1	1	3	3	2	2	1	2	2	1	1	2	1	0	rs541381388		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:34984203C>T	ENST00000590071.2	+	4	1210	c.873C>T	c.(871-873)agC>agT	p.S291S	WTIP_ENST00000270288.6_Silent_p.S515S	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	291	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ACAAATGCAGCGTGTGTGGAC	0.622													C|||	1	0.000199681	0	0.0014	5008	,	,		19446	0		0	False		,,,				2504	0					ENST00000590071.2																			0				NS(1)|large_intestine(2)|lung(1)	4						c.(871-873)agC>agT		Wilms tumor 1 interacting protein							35	38	37					19																	34984203		2089	4226	6315	SO:0001819	synonymous_variant	126374							g.chr19:34984203C>T	AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279			20964	protein-coding gene	gene with protein product	"WT1-interacting protein"	614790				14736876	Standard	NM_001080436		Approved		uc002nvm.3	A6NIX2		ENST00000590071.2:c.873C>T	19.37:g.34984203C>T						WTIP_ENST00000270288.6_Silent_p.S515S	p.S291S	NM_001080436.1	NP_001073905.1			LUSC - Lung squamous cell carcinoma(66;0.211)		4	1210	+	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)								Silent	SNP	ENST00000590071.2	37	c.873C>T	CCDS59375.1																																																																																				0.622	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459381.3	XM_059037		5	21	0	0	0	1	0	5	21					T	34984203	C	T	34984203	2	4	435	1	0	0	0	0	0	0	0	1	17407	767	27	1		1	WTIP	19	34984203	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	41208	34984203	24144780	8204	29129											
ZNF302	55900	broad.mit.edu	37	chr19	35175305	35175305	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttggaatatacagaatgCgacacatttagaagcacctt	16	11	7	7	1	0	2	0	0	0	2	0	4	0	3	1	1	3	1	1	1	7	6	rs375164167		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35175305C>T	ENST00000446502.2	+	6	703	c.495C>T	c.(493-495)tgC>tgT	p.C165C	ZNF302_ENST00000505242.1_Silent_p.C121C|ZNF302_ENST00000457781.2_Silent_p.C121C|ZNF302_ENST00000509528.1_3'UTR|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000507959.1_3'UTR|ZNF302_ENST00000423823.2_Silent_p.C121C			Q9NR11	ZN302_HUMAN	zinc finger protein 302	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ATACAGAATGCGACACATTTA	0.303																																						ENST00000505242.1																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(361-363)tgC>tgT		zinc finger protein 302		C	,	1,4201		0,1,2100	35	37	36		363,363	-0.1	0	19		36	0,8476		0,0,4238	no	coding-synonymous,coding-synonymous	ZNF302	NM_001012320.1,NM_018443.2	,	0,1,6338	TT,TC,CC		0.0,0.0238,0.0079	,	121/400,121/400	35175305	1,12677	2101	4238	6339	SO:0001819	synonymous_variant	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175305C>T	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"Zinc fingers, C2H2-type", "-"	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.495C>T	19.37:g.35175305C>T						ZNF302_ENST00000509528.1_3'UTR|ZNF302_ENST00000423823.2_Silent_p.C121C|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000507959.1_3'UTR|ZNF302_ENST00000457781.2_Silent_p.C121C|ZNF302_ENST00000446502.2_Silent_p.C165C	p.C121C			Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		5	857	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		200					Q658J3|Q9BZD8|Q9P0J4	Silent	SNP	ENST00000446502.2	37	c.363C>T																																																																																					0.303	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			10	12	0	0	0	1	0	10	12					T	35175305	C	T	35175305	2	4	435	1	0	0	0	0	0	0	0	1	17829	776	27	1		1	ZNF302	19	35175305	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	191102	35175305	23953678	8205	29130											
ZNF599	148103	broad.mit.edu	37	chr19	35250255	35250255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagtaaaaggcttttgcaCattctttgcactccaagggt	11	14	8	8	0	1	0	0	0	1	0	2	0	2	0	1	2	2	4	1	2	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35250255C>T	ENST00000329285.8	-	4	1824	c.1451G>A	c.(1450-1452)tGt>tAt	p.C484Y		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGCTTTTGCACATTCTTTGCA	0.423																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(1450-1452)tGt>tAt		zinc finger protein 599							124	126	125					19																	35250255		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35250255C>T	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1451G>A	19.37:g.35250255C>T	ENSP00000333802:p.Cys484Tyr						p.C484Y	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1824	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		484					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.1451G>A	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.301887	0.60195	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	D	0.85861	-2.04	2.67	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93307	0.7867	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94090	0.7352	9	0.87932	D	0	.	11.4934	0.50394	0.0:1.0:0.0:0.0	.	484	Q96NL3	ZN599_HUMAN	Y	483;484;258	ENSP00000333802:C484Y	ENSP00000333802:C484Y	C	-	2	0	ZNF599	39942095	0.997000	0.39634	0.832000	0.32986	0.961000	0.63080	5.024000	0.64090	1.807000	0.52817	0.591000	0.81541	TGT		0.423	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		4	126	0	0	0	1	0	4	126					T	35250255	C	T	35250255	3	4	435	1	0	0	0	0	1	0	0	0	18026	478	17	3	319	3	ZNF599	19	35250255	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	74950	35250255	23878728	8206	29131											
ZNF30	90075	broad.mit.edu	37	chr19	35434553	35434553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acataagagtattcatactgGgaagaaaccatatgagtgcg	16	9	10	6	1	1	3	1	1	0	2	1	4	1	4	1	1	3	1	1	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35434553G>A	ENST00000601142.1	+	5	920	c.683G>A	c.(682-684)gGg>gAg	p.G228E	ZNF30_ENST00000439785.1_Missense_Mutation_p.G229E|ZNF30_ENST00000303586.7_Missense_Mutation_p.G229E|ZNF30_ENST00000426813.2_Missense_Mutation_p.G147E|ZNF30_ENST00000601957.1_3'UTR			P17039	ZNF30_HUMAN	zinc finger protein 30	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		ATTCATACTGGGAAGAAACCA	0.428																																						ENST00000439785.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16						c.(685-687)gGg>gAg		zinc finger protein 30							39	44	42					19																	35434553		2040	4194	6234	SO:0001583	missense	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35434553G>A	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"Zinc fingers, C2H2-type", "-"	13090	protein-coding gene	gene with protein product			"zinc finger protein 30 (KOX 28)"				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.683G>A	19.37:g.35434553G>A	ENSP00000469954:p.Gly228Glu					ZNF30_ENST00000601142.1_Missense_Mutation_p.G228E|ZNF30_ENST00000426813.2_Missense_Mutation_p.G147E|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.G229E	p.G229E	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	1130	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		228					A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	c.686G>A	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820843	0.50633	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813	T;T	0.25749	1.78;1.78	2.12	-0.704	0.11256	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26882	0.0658	L	0.33624	1.015	0.24512	N	0.994206	D;P	0.61080	0.989;0.863	P;P	0.55545	0.778;0.725	T	0.15780	-1.0425	9	0.72032	D	0.01	.	5.3707	0.16138	0.0:0.2242:0.5465:0.2292	.	229;228	P17039-2;P17039	.;ZNF30_HUMAN	E	229;228;147	ENSP00000403441:G229E;ENSP00000416457:G147E	ENSP00000303889:G228E	G	+	2	0	ZNF30	40126393	0.386000	0.25180	0.001000	0.08648	0.073000	0.16967	1.097000	0.30988	-0.228000	0.09869	0.404000	0.27445	GGG		0.428	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		5	19	0	0	0	1	0	5	19					A	35434553	G	A	35434553	3	1	435	1	0	0	0	0	1	0	0	0	17827	1232	43	3	700	3	ZNF30	19	35434553	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	184298	35434553	23694430	8207	29132											
ZNF30	90075	broad.mit.edu	37	chr19	35435319	35435319	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatactgatgtaaagccCtatgaatgtaaggaatgtgg	14	12	10	5	0	1	2	1	2	0	0	1	3	1	3	1	2	2	2	1	2	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35435319C>T	ENST00000601142.1	+	5	1686	c.1449C>T	c.(1447-1449)ccC>ccT	p.P483P	ZNF30_ENST00000439785.1_Silent_p.P484P|ZNF30_ENST00000303586.7_Silent_p.P484P|ZNF30_ENST00000426813.2_Silent_p.P402P|ZNF30_ENST00000601957.1_3'UTR			P17039	ZNF30_HUMAN	zinc finger protein 30	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		ATGTAAAGCCCTATGAATGTA	0.433																																						ENST00000439785.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16						c.(1450-1452)ccC>ccT		zinc finger protein 30							79	84	82					19																	35435319		2202	4300	6502	SO:0001819	synonymous_variant	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35435319C>T	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"Zinc fingers, C2H2-type", "-"	13090	protein-coding gene	gene with protein product			"zinc finger protein 30 (KOX 28)"				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.1449C>T	19.37:g.35435319C>T						ZNF30_ENST00000601142.1_Silent_p.P483P|ZNF30_ENST00000426813.2_Silent_p.P402P|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Silent_p.P484P	p.P484P	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	1896	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		483					A5PLP1|A8K320|B4DIC0|Q6N068	Silent	SNP	ENST00000601142.1	37	c.1452C>T	CCDS46045.1																																																																																				0.433	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		8	20	0	0	0	1	0	8	20					T	35435319	C	T	35435319	2	4	435	1	0	0	0	0	0	0	0	1	17827	668	24	3		3	ZNF30	19	35435319	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	766	35435319	23693664	8208	29133											
ZNF30	90075	broad.mit.edu	37	chr19	35435549	35435549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacttattggacatcagaGtgttcacactggtgagaaac	14	10	9	8	0	2	2	2	1	0	2	2	4	2	3	0	2	2	1	0	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35435549G>A	ENST00000601142.1	+	5	1916	c.1679G>A	c.(1678-1680)aGt>aAt	p.S560N	ZNF30_ENST00000439785.1_Missense_Mutation_p.S561N|ZNF30_ENST00000303586.7_Missense_Mutation_p.S561N|ZNF30_ENST00000426813.2_Missense_Mutation_p.S479N|ZNF30_ENST00000601957.1_3'UTR			P17039	ZNF30_HUMAN	zinc finger protein 30	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GGACATCAGAGTGTTCACACT	0.413																																						ENST00000439785.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16						c.(1681-1683)aGt>aAt		zinc finger protein 30							55	63	60					19																	35435549		2194	4298	6492	SO:0001583	missense	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35435549G>A	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"Zinc fingers, C2H2-type", "-"	13090	protein-coding gene	gene with protein product			"zinc finger protein 30 (KOX 28)"				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.1679G>A	19.37:g.35435549G>A	ENSP00000469954:p.Ser560Asn					ZNF30_ENST00000601142.1_Missense_Mutation_p.S560N|ZNF30_ENST00000426813.2_Missense_Mutation_p.S479N|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.S561N	p.S561N	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	2126	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		560					A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	c.1682G>A	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	g	13.87	2.365712	0.41902	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813;ENST00000342559	T;T	0.18657	2.2;2.2	2.05	0.968	0.19680	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14960	0.0361	L	0.33792	1.035	0.20703	N	0.999868	B;B	0.21309	0.054;0.001	B;B	0.19946	0.027;0.005	T	0.26052	-1.0114	9	0.62326	D	0.03	.	6.1225	0.20161	0.1747:0.0:0.8253:0.0	.	561;560	P17039-2;P17039	.;ZNF30_HUMAN	N	561;560;479;269	ENSP00000403441:S561N;ENSP00000416457:S479N	ENSP00000303889:S560N	S	+	2	0	ZNF30	40127389	0.015000	0.18098	0.227000	0.23927	0.727000	0.41649	1.803000	0.38863	0.193000	0.20303	0.508000	0.49915	AGT		0.413	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		13	15	0	0	0	1	0	13	15					A	35435549	G	A	35435549	3	1	435	1	0	0	0	0	1	0	0	0	17827	1029	36	3	1696	3	ZNF30	19	35435549	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	230	35435549	23693434	8209	29134											
ZNF792	126375	broad.mit.edu	37	chr19	35449064	35449064	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaggctttcccacattcGctgcattcgtaaggcctgtc	7	13	9	12	2	0	1	0	1	0	0	4	1	1	1	2	2	1	4	2	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35449064G>A	ENST00000404801.1	-	4	2081	c.1695C>T	c.(1693-1695)agC>agT	p.S565S	ZNF792_ENST00000605484.1_Silent_p.S498S	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCCCACATTCGCTGCATTCGT	0.507																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(1693-1695)agC>agT		zinc finger protein 792							127	96	107					19																	35449064		2203	4300	6503	SO:0001819	synonymous_variant	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35449064G>A	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"Zinc fingers, C2H2-type", "-"	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1695C>T	19.37:g.35449064G>A						ZNF792_ENST00000605484.1_Silent_p.S498S	p.S565S	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	2081	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		565					B4E333|Q495L1|Q495L3|Q8N932	Silent	SNP	ENST00000404801.1	37	c.1695C>T	CCDS12440.2																																																																																				0.507	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		3	21	0	0	0	1	0	3	21					A	35449064	G	A	35449064	2	1	435	1	0	0	0	0	0	0	0	1	18161	1078	38	1		1	ZNF792	19	35449064	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13515	35449064	23679919	8210	29135											
ZNF792	126375	broad.mit.edu	37	chr19	35449581	35449581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacattcactgcactcatggGcacttctgcccgtatgaacc	9	10	7	15	1	3	1	2	1	1	0	3	1	3	1	2	1	3	3	2	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35449581G>A	ENST00000404801.1	-	4	1564	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	ZNF792_ENST00000605484.1_Missense_Mutation_p.A326V	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCACTCATGGGCACTTCTGCC	0.463																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(1177-1179)gCc>gTc		zinc finger protein 792							52	48	49					19																	35449581		2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35449581G>A	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"Zinc fingers, C2H2-type", "-"	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1178C>T	19.37:g.35449581G>A	ENSP00000385099:p.Ala393Val					ZNF792_ENST00000605484.1_Missense_Mutation_p.A326V	p.A393V	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	1564	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		393					B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.1178C>T	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	g	12.41	1.929471	0.34096	.	.	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.14893	2.47	2.55	2.55	0.30701	Zinc finger, C2H2 (1);	.	.	.	.	T	0.10809	0.0264	N	0.20881	0.62	0.09310	N	1	B	0.31910	0.346	B	0.14578	0.011	T	0.18366	-1.0339	9	0.87932	D	0	.	11.2502	0.49022	0.0:0.0:1.0:0.0	.	393	Q3KQV3	ZN792_HUMAN	V	393;153	ENSP00000385099:A393V	ENSP00000368487:A153V	A	-	2	0	ZNF792	40141421	0.993000	0.37304	0.003000	0.11579	0.958000	0.62258	2.448000	0.44926	1.740000	0.51718	0.563000	0.77884	GCC		0.463	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		5	36	0	0	0	1	0	5	36					A	35449581	G	A	35449581	3	1	435	1	0	0	0	0	1	0	0	0	18161	1203	42	3	724	3	ZNF792	19	35449581	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	517	35449581	23679402	8211	29136											
GRAMD1A	57655	broad.mit.edu	37	chr19	35510307	35510307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcagacgctgttccggCgcggcccccaggccggcggg	3	4	16	18	6	0	1	0	0	0	1	1	1	1	1	5	5	1	3	5	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35510307C>T	ENST00000317991.5	+	13	1537	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R442C|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R536C|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.R215C|CTD-2527I21.14_ENST00000605640.1_RNA	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	449						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	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)			GCTGTTCCGGCGCGGCCCCCA	0.687																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1606-1608)Cgc>Tgc		GRAM domain containing 1A							40	50	47					19																	35510307		2195	4289	6484	SO:0001583	missense	57655					integral to membrane		g.chr19:35510307C>T	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"KIAA1533"	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.1345C>T	19.37:g.35510307C>T	ENSP00000441032:p.Arg449Cys					GRAMD1A_ENST00000504615.2_Missense_Mutation_p.R215C|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R442C|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R449C	p.R536C			Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		14	1677	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		449					A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	c.1606C>T	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786747	0.49997	.	.	ENSG00000089351	ENST00000453966;ENST00000504615;ENST00000317991;ENST00000411896	T;T;T	0.42513	0.97;1.95;1.97	4.54	4.54	0.55810	.	0.060508	0.64402	D	0.000003	T	0.38026	0.1025	N	0.05177	-0.1	0.44603	D	0.997574	D;D;D;P	0.71674	0.998;0.993;0.998;0.625	P;B;P;B	0.59825	0.864;0.348;0.827;0.057	T	0.40534	-0.9558	10	0.37606	T	0.19	.	14.814	0.70017	0.0:1.0:0.0:0.0	.	449;449;215;442	Q96CP6-3;Q96CP6;B3KQF7;Q96CP6-2	.;GRM1A_HUMAN;.;.	C	535;215;449;442	ENSP00000423728:R215C;ENSP00000441032:R449C;ENSP00000439267:R442C	ENSP00000441032:R449C	R	+	1	0	GRAMD1A	40202147	0.633000	0.27181	0.987000	0.45799	0.978000	0.69477	1.070000	0.30653	2.346000	0.79739	0.491000	0.48974	CGC		0.687	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		21	34	0	0	0	1	0	21	34					T	35510307	C	T	35510307	3	4	435	1	0	0	0	0	1	0	0	0	6747	768	27	1	1395	1	GRAMD1A	19	35510307	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	60726	35510307	23618676	8212	29137											
GRAMD1A	57655	broad.mit.edu	37	chr19	35510429	35510429	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctggcccggaacaaggcGcggctccggtgagtggtggc	5	6	19	11	4	1	1	0	1	1	0	2	2	2	2	2	8	1	1	2	8	2	0	rs371585118		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35510429G>A	ENST00000317991.5	+	13	1659	c.1467G>A	c.(1465-1467)gcG>gcA	p.A489A	GRAMD1A_ENST00000411896.2_Silent_p.A482A|GRAMD1A_ENST00000599564.1_Silent_p.A576A|GRAMD1A_ENST00000504615.2_Silent_p.A255A|CTD-2527I21.14_ENST00000605640.1_RNA	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	489						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	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)			GGAACAAGGCGCGGCTCCGGT	0.662																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1726-1728)gcG>gcA		GRAM domain containing 1A		G	,	1,4233		0,1,2116	69	78	75		1446,1467	2.5	1	19		75	6,8452		0,6,4223	no	coding-synonymous,coding-synonymous	GRAMD1A	NM_001136199.1,NM_020895.3	,	0,7,6339	AA,AG,GG		0.0709,0.0236,0.0552	,	482/714,489/725	35510429	7,12685	2117	4229	6346	SO:0001819	synonymous_variant	57655					integral to membrane		g.chr19:35510429G>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"KIAA1533"	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.1467G>A	19.37:g.35510429G>A						GRAMD1A_ENST00000504615.2_Silent_p.A255A|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000411896.2_Silent_p.A482A|GRAMD1A_ENST00000317991.5_Silent_p.A489A	p.A576A			Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		14	1799	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		489					A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	c.1728G>A	CCDS42546.1																																																																																				0.662	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		43	52	0	0	0	1	0	43	52					A	35510429	G	A	35510429	2	1	435	1	0	0	0	0	0	0	0	1	6747	1074	38	1		1	GRAMD1A	19	35510429	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	122	35510429	23618554	8213	29138											
SCN1B	6324	broad.mit.edu	37	chr19	35523489	35523489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagaccgaggccgtgtatgGgatgaccttcaaaattcttt	10	11	12	8	2	2	2	1	1	1	1	2	5	2	3	3	3	0	1	3	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35523489G>A	ENST00000262631.5	+	2	235	c.98G>A	c.(97-99)gGg>gAg	p.G33E	SCN1B_ENST00000595652.1_Missense_Mutation_p.G33E|SCN1B_ENST00000415950.3_Missense_Mutation_p.G33E|SCN1B_ENST00000596348.1_3'UTR	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	33	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	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)		Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCGTGTATGGGATGACCTTC	0.622																																						ENST00000262631.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11						c.(97-99)gGg>gAg		sodium channel, voltage-gated, type I, beta subunit							140	133	135					19																	35523489		2203	4300	6503	SO:0001583	missense	6324				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	g.chr19:35523489G>A		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10586	protein-coding gene	gene with protein product		600235	"sodium channel, voltage-gated, type I, beta polypeptide", "sodium channel, voltage-gated, type I, beta"			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.98G>A	19.37:g.35523489G>A	ENSP00000262631:p.Gly33Glu					SCN1B_ENST00000415950.3_Missense_Mutation_p.G33E|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Missense_Mutation_p.G33E	p.G33E	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		2	235	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		33			Ig-like C2-type.		Q5TZZ4|Q6TN97	Missense_Mutation	SNP	ENST00000262631.5	37	c.98G>A	CCDS12441.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291535	0.40494	.	.	ENSG00000105711	ENST00000262631;ENST00000415950	T;T	0.43688	0.94;0.94	3.82	3.82	0.43975	Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	M	0.71036	2.16	0.80722	D	1	B;D;D	0.89917	0.241;1.0;1.0	B;D;D	0.97110	0.286;0.999;1.0	T	0.64875	-0.6304	10	0.87932	D	0	-52.1346	11.0836	0.48074	0.0:0.0:1.0:0.0	.	33;33;33	B4DI92;Q07699;Q07699-2	.;SCN1B_HUMAN;.	E	33	ENSP00000262631:G33E;ENSP00000396915:G33E	ENSP00000262631:G33E	G	+	2	0	SCN1B	40215329	1.000000	0.71417	0.997000	0.53966	0.039000	0.13416	4.547000	0.60712	1.969000	0.57287	0.563000	0.77884	GGG		0.622	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1			11	63	0	0	0	1	0	11	63					A	35523489	G	A	35523489	3	1	435	1	0	0	0	0	1	0	0	0	13915	1232	43	3	104	3	SCN1B	19	35523489	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13060	35523489	23605494	8214	29139											
SCN1B	6324	broad.mit.edu	37	chr19	35524561	35524561	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggcgactacgagtgccaCgtctaccgcctgctcttctt	5	11	10	15	5	3	0	0	0	3	0	4	2	3	0	3	1	4	1	3	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35524561C>T	ENST00000262631.5	+	3	503	c.366C>T	c.(364-366)caC>caT	p.H122H	SCN1B_ENST00000415950.3_Silent_p.H122H|CTD-2527I21.9_ENST00000601692.1_RNA|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Intron	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	122	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	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)		Valproic Acid(DB00313)|Zonisamide(DB00909)	ACGAGTGCCACGTCTACCGCC	0.552																																						ENST00000262631.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11						c.(364-366)caC>caT		sodium channel, voltage-gated, type I, beta subunit							176	137	150					19																	35524561		2203	4300	6503	SO:0001819	synonymous_variant	6324				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	g.chr19:35524561C>T		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10586	protein-coding gene	gene with protein product		600235	"sodium channel, voltage-gated, type I, beta polypeptide", "sodium channel, voltage-gated, type I, beta"			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.366C>T	19.37:g.35524561C>T						SCN1B_ENST00000415950.3_Silent_p.H122H|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Intron	p.H122H	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	503	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		122			Ig-like C2-type.		Q5TZZ4|Q6TN97	Silent	SNP	ENST00000262631.5	37	c.366C>T	CCDS12441.1																																																																																				0.552	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1			27	62	0	0	0	1	0	27	62					T	35524561	C	T	35524561	2	4	435	1	0	0	0	0	0	0	0	1	13915	535	19	1		1	SCN1B	19	35524561	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1072	35524561	23604422	8215	29140											
SCN1B	6324	broad.mit.edu	37	chr19	35530127	35530127	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttactgctacaagaagatCgctgccgccacggagactgc	11	8	10	12	3	0	3	0	0	0	3	1	4	0	3	2	1	5	2	2	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35530127C>T	ENST00000262631.5	+	4	692	c.555C>T	c.(553-555)atC>atT	p.I185I	HPN_ENST00000597419.1_5'Flank|CTD-2527I21.9_ENST00000601692.1_RNA|HPN_ENST00000262626.2_5'Flank|SCN1B_ENST00000595652.1_Silent_p.I114I|HPN_ENST00000392226.1_5'Flank	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	185					axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	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)		Valproic Acid(DB00313)|Zonisamide(DB00909)	ACAAGAAGATCGCTGCCGCCA	0.552																																						ENST00000262631.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11						c.(553-555)atC>atT		sodium channel, voltage-gated, type I, beta subunit							130	114	119					19																	35530127		2203	4300	6503	SO:0001819	synonymous_variant	6324				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	g.chr19:35530127C>T		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10586	protein-coding gene	gene with protein product		600235	"sodium channel, voltage-gated, type I, beta polypeptide", "sodium channel, voltage-gated, type I, beta"			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.555C>T	19.37:g.35530127C>T						SCN1B_ENST00000595652.1_Silent_p.I114I	p.I185I	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	692	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		185					Q5TZZ4|Q6TN97	Silent	SNP	ENST00000262631.5	37	c.555C>T	CCDS12441.1																																																																																				0.552	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1			34	41	0	0	0	1	0	34	41					T	35530127	C	T	35530127	2	4	435	1	0	0	0	0	0	0	0	1	13915	874	31	2		2	SCN1B	19	35530127	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5566	35530127	23598856	8216	29141											
HPN	3249	broad.mit.edu	37	chr19	35551573	35551573	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgagtgtttgccggtgcCgtggcccaggcctctcccca	3	9	14	15	3	1	0	0	0	1	0	2	1	1	0	6	4	2	1	6	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35551573C>T	ENST00000262626.2	+	9	1488	c.663C>T	c.(661-663)gcC>gcT	p.A221A	HPN_ENST00000597419.1_Silent_p.A63A|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Silent_p.A221A	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	221	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)	p.A221A(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	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)	TTGCCGGTGCCGTGGCCCAGG	0.677																																						ENST00000262626.2																			1	Substitution - coding silent(1)	p.A221A(1)	large_intestine(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(661-663)gcC>gcT		hepsin	Coagulation factor VIIa(DB00036)						75	68	70					19																	35551573		2203	4299	6502	SO:0001819	synonymous_variant	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35551573C>T		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"Serine peptidases / Transmembrane"	5155	protein-coding gene	gene with protein product	"transmembrane protease, serine 1"	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.663C>T	19.37:g.35551573C>T						HPN_ENST00000392226.1_Silent_p.A221A|HPN_ENST00000597419.1_Silent_p.A63A|HPN-AS1_ENST00000392227.2_RNA	p.A221A	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		9	1488	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		221			Peptidase S1.		B2RDS4	Silent	SNP	ENST00000262626.2	37	c.663C>T	CCDS32993.1																																																																																				0.677	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		4	31	0	0	0	1	0	4	31					T	35551573	C	T	35551573	2	4	435	1	0	0	0	0	0	0	0	1	7336	639	23	2		2	HPN	19	35551573	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21446	35551573	23577410	8217	29142											
LGI4	163175	broad.mit.edu	37	chr19	35617178	35617178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggcccagcctcaccatgGagtccccaatgtagcgtgtg	8	7	11	15	1	1	0	1	0	0	0	2	1	2	1	6	2	2	1	6	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35617178G>T	ENST00000310123.3	-	8	1814	c.1295C>A	c.(1294-1296)tCc>tAc	p.S432Y	LGI4_ENST00000392225.3_Missense_Mutation_p.P458T|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	432					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	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)			CCTCACCATGGAGTCCCCAAT	0.607																																						ENST00000392225.3																			0				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1372-1374)Cca>Aca		leucine-rich repeat LGI family, member 4							28	25	26					19																	35617178		2203	4298	6501	SO:0001583	missense	163175					extracellular region		g.chr19:35617178G>T	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.1295C>A	19.37:g.35617178G>T	ENSP00000312273:p.Ser432Tyr					LGI4_ENST00000310123.3_Missense_Mutation_p.S432Y|LGI4_ENST00000493050.1_5'UTR	p.P458T			Q8N135	LGI4_HUMAN	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)		7	1891	-	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		0					B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	37	c.1372C>A	CCDS12444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.611504|4.611504	0.87258|0.87258	.|.	.|.	ENSG00000153902|ENSG00000153902	ENST00000392225|ENST00000310123;ENST00000437421	T|D	0.70516|0.85629	-0.49|-2.01	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	.|0.000000	.|0.56097	.|D	.|0.000031	D|D	0.91660|0.91660	0.7364|0.7364	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.92787|0.92787	0.6245|0.6245	7|10	0.87932|0.87932	D|D	0|0	.|.	15.0589|15.0589	0.71936|0.71936	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|343;432	.|Q658V8;Q8N135	.|.;LGI4_HUMAN	T|Y	458|432	ENSP00000376059:P458T|ENSP00000312273:S432Y	ENSP00000376059:P458T|ENSP00000312273:S432Y	P|S	-|-	1|2	0|0	LGI4|LGI4	40309018|40309018	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	9.721000|9.721000	0.98766|0.98766	2.147000|2.147000	0.66899|0.66899	0.585000|0.585000	0.79938|0.79938	CCA|TCC		0.607	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			4	4	1	0	0.00024832	1	0.000253518	4	4					T	35617178	G	T	35617178	3	4	435	1	0	0	0	0	1	0	0	0	8754	1174	41	5	326	5	LGI4	19	35617178	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	65605	35617178	23511805	8218	29143											
LSR	51599	broad.mit.edu	37	chr19	35741376	35741376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgccgggaccgcatcgccGatgccttctccccggccagc	4	7	11	19	5	2	0	0	0	2	0	4	2	2	1	7	2	3	1	7	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35741376G>A	ENST00000361790.3	+	2	571	c.412G>A	c.(412-414)Gat>Aat	p.D138N	LSR_ENST00000360798.3_Missense_Mutation_p.D138N|LSR_ENST00000597933.1_3'UTR|AC002128.5_ENST00000604161.1_RNA|LSR_ENST00000427250.1_Missense_Mutation_p.D90N|LSR_ENST00000347609.4_Missense_Mutation_p.D101N|LSR_ENST00000602122.1_Missense_Mutation_p.D138N|LSR_ENST00000354900.3_Missense_Mutation_p.D138N	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	138	Ig-like V-type.				embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				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)			CCGCATCGCCGATGCCTTCTC	0.632																																						ENST00000602122.1																			0				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						c.(412-414)Gat>Aat		lipolysis stimulated lipoprotein receptor							141	119	126					19																	35741376		2203	4300	6503	SO:0001583	missense	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35741376G>A	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29572	protein-coding gene	gene with protein product	"lipolysis-stimulated remnant", "immunoglobulin-like domain containing receptor 3"					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.412G>A	19.37:g.35741376G>A	ENSP00000354575:p.Asp138Asn					LSR_ENST00000354900.3_Missense_Mutation_p.D138N|LSR_ENST00000347609.4_Missense_Mutation_p.D101N|LSR_ENST00000427250.1_Missense_Mutation_p.D90N|LSR_ENST00000361790.3_Missense_Mutation_p.D138N|LSR_ENST00000360798.3_Missense_Mutation_p.D138N|LSR_ENST00000597933.1_3'UTR	p.D138N			Q86X29	LSR_HUMAN	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)		2	899	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		138			Ig-like V-type.		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.412G>A	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102322	0.76983	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609;ENST00000427250	T;T;T;T;T	0.70516	0.09;0.17;-0.21;-0.13;-0.49	4.88	4.88	0.63580	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.055341	0.64402	D	0.000001	T	0.80752	0.4683	L	0.55990	1.75	0.35176	D	0.772069	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.76071	0.946;0.963;0.987;0.982;0.956;0.97	D	0.86070	0.1537	10	0.72032	D	0.01	-19.434	15.5729	0.76354	0.0:0.0:1.0:0.0	.	95;101;138;138;138;138	Q9BT33;Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;.;LSR_HUMAN	N	138;138;138;101;90	ENSP00000354575:D138N;ENSP00000346976:D138N;ENSP00000354034:D138N;ENSP00000262627:D101N;ENSP00000394479:D90N	ENSP00000262627:D101N	D	+	1	0	LSR	40433216	1.000000	0.71417	0.803000	0.32268	0.200000	0.23975	5.966000	0.70395	2.548000	0.85928	0.655000	0.94253	GAT		0.632	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		22	37	0	0	0	1	0	22	37					A	35741376	G	A	35741376	3	1	435	1	0	0	0	0	1	0	0	0	9064	1058	37	2	418	2	LSR	19	35741376	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	124198	35741376	23387607	8219	29144											
MAG	4099	broad.mit.edu	37	chr19	35800807	35800807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcctggagtcccactGcgcggcagcccgagacacgg	6	5	13	17	4	0	1	0	0	0	1	3	3	3	2	4	3	2	2	4	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35800807G>A	ENST00000392213.3	+	8	1421	c.1262G>A	c.(1261-1263)tGc>tAc	p.C421Y	MAG_ENST00000537831.2_Missense_Mutation_p.C396Y|MAG_ENST00000361922.4_Missense_Mutation_p.C421Y|MAG_ENST00000593348.1_3'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	421	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GAGTCCCACTGCGCGGCAGCC	0.677																																						ENST00000361922.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1261-1263)tGc>tAc		myelin associated glycoprotein							66	73	70					19																	35800807		2203	4298	6501	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35800807G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1262G>A	19.37:g.35800807G>A	ENSP00000376048:p.Cys421Tyr					MAG_ENST00000537831.2_Missense_Mutation_p.C396Y|MAG_ENST00000392213.3_Missense_Mutation_p.C421Y|MAG_ENST00000593348.1_3'UTR	p.C421Y	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	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)		8	1412	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	421			Ig-like C2-type 4.		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.1262G>A	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448085	0.84101	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.13778	2.56;2.56;2.56	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.22936	0.0554	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.83275	0.99;0.992;0.996	T	0.01386	-1.1368	10	0.02654	T	1	.	16.4987	0.84252	0.0:0.0:1.0:0.0	.	458;421;421	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	Y	458;421;421;396	ENSP00000355234:C421Y;ENSP00000376048:C421Y;ENSP00000440695:C396Y	ENSP00000262624:C458Y	C	+	2	0	MAG	40492647	1.000000	0.71417	0.946000	0.38457	0.945000	0.59286	6.731000	0.74785	2.497000	0.84241	0.462000	0.41574	TGC		0.677	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		35	52	0	0	0	1	0	35	52					A	35800807	G	A	35800807	3	1	435	1	0	0	0	0	1	0	0	0	9162	1319	46	3	1284	3	MAG	19	35800807	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59431	35800807	23328176	8220	29145											
FFAR3	2865	broad.mit.edu	37	chr19	35850518	35850518	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgctttgggccctacaaCgtgtcccatgtcgtgggcta	5	12	12	12	2	1	0	0	0	1	0	3	0	2	0	2	2	3	2	2	2	3	3	rs147416906		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35850518C>T	ENST00000327809.4	+	2	927	c.726C>T	c.(724-726)aaC>aaT	p.N242N	FFAR3_ENST00000594310.1_Silent_p.N242N	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	242					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.N242N(1)|p.N242K(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GGCCCTACAACGTGTCCCATG	0.632																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	ENST00000327809.4																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.N242N(1)|p.N242K(1)	large_intestine(1)|lung(1)	endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(724-726)aaC>aaT		free fatty acid receptor 3		T		0,4402		0,0,2201	172	130	144		726	-8.3	0	19	dbSNP_134	144	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	FFAR3	NM_005304.3		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		242/347	35850518	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850518C>T	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"GPCR / Class A : Fatty acid receptors"	4499	protein-coding gene	gene with protein product		603821	"G protein-coupled receptor 41"	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.726C>T	19.37:g.35850518C>T						FFAR3_ENST00000594310.1_Silent_p.N242N	p.N242N	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	927	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		242					B2RWM8|Q14CM7	Silent	SNP	ENST00000327809.4	37	c.726C>T	CCDS12459.1																																																																																				0.632	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		34	140	0	0	0	1	0	34	140					T	35850518	C	T	35850518	2	4	435	1	0	0	0	0	0	0	0	1	5829	535	19	1		1	FFAR3	19	35850518	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	49711	35850518	23278465	8221	29146											
DMKN	93099	broad.mit.edu	37	chr19	36001089	36001089	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacgccagccactcaccccGggtttatgtccatttcctcc	6	11	6	18	2	2	0	2	0	0	0	5	0	5	0	7	1	1	1	7	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36001089G>A	ENST00000339686.3	-	6	1160	c.984C>T	c.(982-984)ccC>ccT	p.P328P	DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000418261.1_Silent_p.P328P|DMKN_ENST00000461300.1_5'UTR|DMKN_ENST00000451297.2_Silent_p.P328P|DMKN_ENST00000474928.1_5'UTR|DMKN_ENST00000414866.2_Silent_p.P41P|DMKN_ENST00000472252.2_5'UTR|DMKN_ENST00000419602.1_Silent_p.P267P|DMKN_ENST00000488892.1_Silent_p.P41P|DMKN_ENST00000443640.1_Silent_p.P41P|DMKN_ENST00000467637.1_Silent_p.P41P|DMKN_ENST00000436012.1_Silent_p.P41P|DMKN_ENST00000402589.2_Silent_p.P41P|DMKN_ENST00000480502.1_Silent_p.P41P|DMKN_ENST00000458071.1_Silent_p.P41P|DMKN_ENST00000392206.2_Silent_p.P41P|DMKN_ENST00000602781.1_Silent_p.P41P|DMKN_ENST00000429837.1_Silent_p.P267P|DMKN_ENST00000424570.2_Silent_p.P328P|DMKN_ENST00000447113.2_Silent_p.P328P|DMKN_ENST00000440396.1_Silent_p.P328P|DMKN_ENST00000492341.2_5'UTR	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	328	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				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)			CACTCACCCCGGGTTTATGTC	0.612											OREG0025431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339686.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27						c.(982-984)ccC>ccT		dermokine							25	23	24					19																	36001089		2203	4300	6503	SO:0001819	synonymous_variant	93099					extracellular region		g.chr19:36001089G>A	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.984C>T	19.37:g.36001089G>A			OREG0025431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	859	DMKN_ENST00000461300.1_5'UTR|DMKN_ENST00000402589.2_Silent_p.P41P|DMKN_ENST00000414866.2_Silent_p.P41P|DMKN_ENST00000488892.1_Silent_p.P41P|DMKN_ENST00000474928.1_5'UTR|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000436012.1_Silent_p.P41P|DMKN_ENST00000440396.1_Silent_p.P328P|DMKN_ENST00000429837.1_Silent_p.P267P|DMKN_ENST00000458071.1_Silent_p.P41P|DMKN_ENST00000602781.1_Silent_p.P41P|DMKN_ENST00000451297.2_Silent_p.P328P|DMKN_ENST00000419602.1_Silent_p.P267P|DMKN_ENST00000480502.1_Silent_p.P41P|DMKN_ENST00000424570.2_Silent_p.P328P|DMKN_ENST00000418261.1_Silent_p.P328P|DMKN_ENST00000392206.2_Silent_p.P41P|DMKN_ENST00000472252.2_5'UTR|DMKN_ENST00000467637.1_Silent_p.P41P|DMKN_ENST00000443640.1_Silent_p.P41P|DMKN_ENST00000492341.2_5'UTR|DMKN_ENST00000447113.2_Silent_p.P328P	p.P328P	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		6	1160	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		328			Gly-rich.		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Silent	SNP	ENST00000339686.3	37	c.984C>T	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	G	7.801	0.713673	0.15306	.	.	ENSG00000161249	ENST00000434389	.	.	.	3.7	-4.19	0.03835	.	.	.	.	.	T	0.35624	0.0938	.	.	.	0.40820	D	0.983497	.	.	.	.	.	.	T	0.36744	-0.9735	4	.	.	.	-15.2397	0.6551	0.00833	0.191:0.2837:0.2367:0.2886	.	.	.	.	W	9	.	.	R	-	1	2	DMKN	40692929	0.090000	0.21635	0.027000	0.17364	0.043000	0.13939	-0.661000	0.05311	-0.685000	0.05177	0.655000	0.94253	CGG		0.612	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		3	7	0	0	0	1	0	3	7					A	36001089	G	A	36001089	2	1	435	1	0	0	0	0	0	0	0	1	4582	1103	39	2		2	DMKN	19	36001089	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	150571	36001089	23127894	8222	29147											
SBSN	374897	broad.mit.edu	37	chr19	36017621	36017621	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcagctccttcccggcctgGccagcagcatggtgggcacc	5	7	13	16	1	0	0	0	0	0	0	2	0	2	0	5	4	4	5	5	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36017621G>A	ENST00000452271.2	-	1	1591	c.1563C>T	c.(1561-1563)ggC>ggT	p.G521G	SBSN_ENST00000518157.1_Silent_p.G178G	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	521	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	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)			TCCCGGCCTGGCCAGCAGCAT	0.577																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(1561-1563)ggC>ggT		suprabasin							135	114	121					19																	36017621		2203	4300	6503	SO:0001819	synonymous_variant	374897					extracellular region		g.chr19:36017621G>A	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1563C>T	19.37:g.36017621G>A						SBSN_ENST00000518157.1_Silent_p.G178G	p.G521G	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	1591	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		178					A8K5J0|E9PBV3	Silent	SNP	ENST00000452271.2	37	c.1563C>T	CCDS54253.1																																																																																				0.577	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		29	53	0	0	0	1	0	29	53					A	36017621	G	A	36017621	2	1	435	1	0	0	0	0	0	0	0	1	13864	1190	42	3		3	SBSN	19	36017621	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16532	36017621	23111362	8223	29148											
TMEM147	10430	broad.mit.edu	37	chr19	36038088	36038088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatctgtaccacaccttccGgccagctgtcctcctgctga	6	11	8	16	1	1	2	0	2	1	0	4	2	4	2	6	1	3	3	6	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36038088G>A	ENST00000222284.5	+	6	642	c.497G>A	c.(496-498)cGg>cAg	p.R166Q	AD000090.2_ENST00000589137.1_RNA|TMEM147_ENST00000392204.2_Missense_Mutation_p.R117Q|AD000090.2_ENST00000588286.1_RNA|TMEM147_ENST00000392205.1_Missense_Mutation_p.R166Q|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	166						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	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)			CACACCTTCCGGCCAGCTGTC	0.552																																						ENST00000392204.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(349-351)cGg>cAg		transmembrane protein 147							129	119	122					19																	36038088		2203	4300	6503	SO:0001583	missense	10430					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:36038088G>A	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.497G>A	19.37:g.36038088G>A	ENSP00000222284:p.Arg166Gln					TMEM147_ENST00000392205.1_Missense_Mutation_p.R166Q|TMEM147_ENST00000222284.5_Missense_Mutation_p.R166Q	p.R117Q	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	678	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		166					A8MWW0|O75790	Missense_Mutation	SNP	ENST00000222284.5	37	c.350G>A	CCDS12466.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642610	0.47153	.	.	ENSG00000105677	ENST00000392204;ENST00000222284;ENST00000392205	T;T;T	0.44083	0.97;0.96;0.93	5.63	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	L	0.47716	1.5	0.53688	D	0.999976	B;B	0.27498	0.18;0.18	B;B	0.10450	0.003;0.005	T	0.08086	-1.0739	10	0.10636	T	0.68	.	12.1235	0.53905	0.0831:0.0:0.9169:0.0	.	117;166	A8MWW0;Q9BVK8	.;TM147_HUMAN	Q	117;166;166	ENSP00000376040:R117Q;ENSP00000222284:R166Q;ENSP00000376041:R166Q	ENSP00000222284:R166Q	R	+	2	0	TMEM147	40729928	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.536000	0.67180	1.386000	0.46466	0.655000	0.94253	CGG		0.552	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		19	34	0	0	0	1	0	19	34					A	36038088	G	A	36038088	3	1	435	1	0	0	0	0	1	0	0	0	16058	1116	39	2	519	2	TMEM147	19	36038088	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20467	36038088	23090895	8224	29149											
TMEM147	10430	broad.mit.edu	37	chr19	36038288	36038288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggcccgagcagtggtaaCggggctgctggccctcagca	7	6	15	13	2	1	0	1	0	0	0	1	1	1	0	2	5	4	5	2	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36038288C>T	ENST00000222284.5	+	7	759	c.614C>T	c.(613-615)aCg>aTg	p.T205M	AD000090.2_ENST00000589137.1_RNA|TMEM147_ENST00000392204.2_Missense_Mutation_p.T156M|AD000090.2_ENST00000588286.1_RNA|TMEM147_ENST00000392205.1_3'UTR|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	205				ALLARAVVT -> VLMAGVVVK (in Ref. 1; CAA77013). {ECO:0000305}.		endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	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)			GCAGTGGTAACGGGGCTGCTG	0.557																																						ENST00000392204.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(466-468)aCg>aTg		transmembrane protein 147							70	52	58					19																	36038288		2203	4300	6503	SO:0001583	missense	10430					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:36038288C>T	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.614C>T	19.37:g.36038288C>T	ENSP00000222284:p.Thr205Met					TMEM147_ENST00000392205.1_3'UTR|TMEM147_ENST00000222284.5_Missense_Mutation_p.T205M	p.T156M	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		6	795	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		205					A8MWW0|O75790	Missense_Mutation	SNP	ENST00000222284.5	37	c.467C>T	CCDS12466.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669673	0.88348	.	.	ENSG00000105677	ENST00000392204;ENST00000222284	T;T	0.50548	0.74;0.75	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.66723	0.2818	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.87578	0.998;0.818	T	0.67799	-0.5577	10	0.87932	D	0	.	17.4169	0.87503	0.0:1.0:0.0:0.0	.	156;205	A8MWW0;Q9BVK8	.;TM147_HUMAN	M	156;205	ENSP00000376040:T156M;ENSP00000222284:T205M	ENSP00000222284:T205M	T	+	2	0	TMEM147	40730128	1.000000	0.71417	0.989000	0.46669	0.909000	0.53808	5.851000	0.69481	2.717000	0.92951	0.655000	0.94253	ACG		0.557	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		13	16	0	0	0	1	0	13	16					T	36038288	C	T	36038288	3	4	435	1	0	0	0	0	1	0	0	0	16058	536	19	1	640	1	TMEM147	19	36038288	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	200	36038288	23090695	8225	29150											
ATP4A	495	broad.mit.edu	37	chr19	36051292	36051292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacatggtggagaagaaggCgatgttgcgggtctccagag	10	7	17	7	2	1	3	0	0	1	3	2	5	1	3	1	4	1	2	1	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36051292C>T	ENST00000262623.3	-	6	788	c.760G>A	c.(760-762)Gcc>Acc	p.A254T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	254					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GAGAAGAAGGCGATGTTGCGG	0.627																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(760-762)Gcc>Acc		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						96	98	97					19																	36051292		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36051292C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.760G>A	19.37:g.36051292C>T	ENSP00000262623:p.Ala254Thr						p.A254T	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		6	788	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		254					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.760G>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.045544	0.75846	.	.	ENSG00000105675	ENST00000262623	D	0.91011	-2.77	4.16	4.16	0.48862	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000005	D	0.91030	0.7178	M	0.86740	2.835	0.80722	D	1	P	0.40250	0.709	B	0.37692	0.256	D	0.91999	0.5609	10	0.48119	T	0.1	.	14.3183	0.66468	0.0:1.0:0.0:0.0	.	254	P20648	ATP4A_HUMAN	T	254	ENSP00000262623:A254T	ENSP00000262623:A254T	A	-	1	0	ATP4A	40743132	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.866000	0.69590	2.314000	0.78098	0.486000	0.48141	GCC		0.627	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		21	44	0	0	0	1	0	21	44					T	36051292	C	T	36051292	3	4	435	1	0	0	0	0	1	0	0	0	1145	768	27	1	2415	1	ATP4A	19	36051292	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13004	36051292	23077691	8226	29151											
RBM42	79171	broad.mit.edu	37	chr19	36122298	36122298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgagaagccatgttcctgCggcgggcaggtgagtctggg	6	8	17	10	3	1	2	0	1	1	1	3	3	2	2	2	4	2	2	2	4	1	1	rs538251490		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36122298C>T	ENST00000262633.4	+	4	538	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	RBM42_ENST00000589559.1_Missense_Mutation_p.R145W|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000592202.1_Intron|RBM42_ENST00000588161.1_Missense_Mutation_p.R145W|RBM42_ENST00000589871.1_Missense_Mutation_p.R145W|RBM42_ENST00000360475.4_Missense_Mutation_p.R145W	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	145						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R145W(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CATGTTCCTGCGGCGGGCAGG	0.567													C|||	1	0.000199681	0	0	5008	,	,		18214	0.001		0	False		,,,				2504	0					ENST00000262633.4																			1	Substitution - Missense(1)	p.R145W(1)	large_intestine(1)	breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21						c.(433-435)Cgg>Tgg		RNA binding motif protein 42							68	65	66					19																	36122298		2203	4300	6503	SO:0001583	missense	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36122298C>T	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"RNA binding motif (RRM) containing"	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.433C>T	19.37:g.36122298C>T	ENSP00000262633:p.Arg145Trp					RBM42_ENST00000586618.1_Intron|RBM42_ENST00000360475.4_Missense_Mutation_p.R145W|RBM42_ENST00000589871.1_Missense_Mutation_p.R145W|RBM42_ENST00000588161.1_Missense_Mutation_p.R145W|RBM42_ENST00000592202.1_Intron|RBM42_ENST00000589559.1_Missense_Mutation_p.R145W	p.R145W	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		4	538	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		145					O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	c.433C>T	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682969	0.68157	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.07908	3.22;3.15	4.99	3.89	0.44902	.	0.401671	0.24202	N	0.040601	T	0.14098	0.0341	N	0.22421	0.69	0.36145	D	0.847061	D;D;D;D	0.89917	1.0;0.983;0.983;0.999	D;B;B;D	0.70016	0.967;0.35;0.35;0.952	T	0.15464	-1.0436	10	0.46703	T	0.11	-11.7084	9.8339	0.40958	0.2832:0.7168:0.0:0.0	.	145;145;145;145	B4DWT0;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	W	145	ENSP00000262633:R145W;ENSP00000353663:R145W	ENSP00000262633:R145W	R	+	1	2	RBM42	40814138	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.911000	0.28584	1.130000	0.42092	0.555000	0.69702	CGG		0.567	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		26	28	0	0	0	1	0	26	28					T	36122298	C	T	36122298	3	4	435	1	0	0	0	0	1	0	0	0	13136	759	27	1	447	1	RBM42	19	36122298	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	71006	36122298	23006685	8227	29152											
MLL4	9757	broad.mit.edu	37	chr19	36215970	36215970	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccgatggtgtgcaccgCgtccgtgtggattttaaggt	5	13	13	10	4	1	0	0	0	1	0	3	2	2	1	3	3	1	1	3	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36215970C>T	ENST00000222270.7	+	10	3510	c.3510C>T	c.(3508-3510)cgC>cgT	p.R1170R	KMT2B_ENST00000420124.1_Silent_p.R1170R|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1170					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GTGTGCACCGCGTCCGTGTGG	0.572																																						ENST00000222270.7																			0											c.(3508-3510)cgC>cgT									65	71	69					19																	36215970		2020	4185	6205	SO:0001819	synonymous_variant	0							g.chr19:36215970C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3510C>T	19.37:g.36215970C>T						KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Silent_p.R1170R	p.R1170R	NM_014727.1	NP_055542.1					10	3510	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.3510C>T	CCDS46055.1																																																																																				0.572	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		16	29	0	0	0	1	0	16	29					T	36215970	C	T	36215970	2	4	435	1	0	0	0	0	0	0	0	1	9623	755	27	1		1	MLL4	19	36215970	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	93672	36215970	22913013	8228	29153											
MLL4	9757	broad.mit.edu	37	chr19	36216181	36216181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagtgtgctcacctctgtgCcagggggccccccgatggtg	4	9	15	13	1	2	1	1	1	1	0	2	2	2	1	5	3	2	1	5	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36216181C>T	ENST00000222270.7	+	11	3589	c.3589C>T	c.(3589-3591)Cca>Tca	p.P1197S	KMT2B_ENST00000420124.1_Missense_Mutation_p.P1197S|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1197					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CACCTCTGTGCCAGGGGGCCC	0.607																																						ENST00000222270.7																			0											c.(3589-3591)Cca>Tca									29	34	32					19																	36216181		1971	4126	6097	SO:0001583	missense	0							g.chr19:36216181C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3589C>T	19.37:g.36216181C>T	ENSP00000222270:p.Pro1197Ser					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.P1197S	p.P1197S	NM_014727.1	NP_055542.1					11	3589	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.3589C>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308978	0.60305	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.88277	-2.36;-2.36	5.54	5.54	0.83059	.	0.000000	0.44483	D	0.000450	D	0.91676	0.7369	L	0.39147	1.195	0.58432	D	0.999999	D	0.89917	1.0	D	0.69307	0.963	D	0.90201	0.4257	10	0.37606	T	0.19	.	18.4191	0.90582	0.0:1.0:0.0:0.0	.	1197	Q9UMN6	MLL4_HUMAN	S	1197	ENSP00000222270:P1197S;ENSP00000398837:P1197S	ENSP00000222270:P1197S	P	+	1	0	AD000671.1	40908021	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.489000	0.66875	2.884000	0.98904	0.655000	0.94253	CCA		0.607	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		10	7	0	0	0	1	0	10	7					T	36216181	C	T	36216181	3	4	435	1	0	0	0	0	1	0	0	0	9623	739	26	3	3631	3	MLL4	19	36216181	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	211	36216181	22912802	8229	29154											
MLL4	9757	broad.mit.edu	37	chr19	36219726	36219726	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctggatcatgtctatgcGcagtggagacagcaggaacc	10	8	12	11	1	2	1	1	0	1	1	3	4	3	3	2	3	3	2	2	3	2	1	rs377174050		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36219726G>A	ENST00000222270.7	+	20	4623	c.4623G>A	c.(4621-4623)gcG>gcA	p.A1541A	KMT2B_ENST00000420124.1_Silent_p.A1541A|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1541					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ATGTCTATGCGCAGTGGAGAC	0.617																																						ENST00000222270.7																			0											c.(4621-4623)gcG>gcA				G		1,4073		0,1,2036	54	59	57		4623	1.5	1	19		57	0,8388		0,0,4194	no	coding-synonymous	MLL4	NM_014727.1		0,1,6230	AA,AG,GG		0.0,0.0245,0.0080		1541/2716	36219726	1,12461	2037	4194	6231	SO:0001819	synonymous_variant	0							g.chr19:36219726G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4623G>A	19.37:g.36219726G>A						KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Silent_p.A1541A	p.A1541A	NM_014727.1	NP_055542.1					20	4623	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.4623G>A	CCDS46055.1																																																																																				0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		7	13	0	0	0	1	0	7	13					A	36219726	G	A	36219726	2	1	435	1	0	0	0	0	0	0	0	1	9623	1074	38	1		1	MLL4	19	36219726	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3545	36219726	22909257	8230	29155											
MLL4	9757	broad.mit.edu	37	chr19	36223002	36223002	+	Frame_Shift_Del	DEL	G	G	-																															tcgccatcccggaggcccttGgggggtgtctcctttggccc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36223002delG	ENST00000222270.7	+	27	5631	c.5631delG	c.(5629-5631)ttgfs	p.L1877fs	KMT2B_ENST00000420124.1_Frame_Shift_Del_p.L1877fs|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1877					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G1881fs*16(1)									GGAGGCCCTTGGGGGGTGTCT	0.672																																						ENST00000222270.7																			1	Deletion - Frameshift(1)	p.G1881fs*16(1)	large_intestine(1)								c.(5629-5631)ttfs									11	12	12					19																	36223002		1860	4086	5946	SO:0001589	frameshift_variant	0							g.chr19:36223002delG	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5631delG	19.37:g.36223002delG	ENSP00000222270:p.Leu1877fs					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Frame_Shift_Del_p.L1877fs	p.L1877fs	NM_014727.1	NP_055542.1					27	5631	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	ENST00000222270.7	37	c.5631delG	CCDS46055.1																																																																																				0.672	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		9	11						9	11	---	---	---	---	-	36223002	G	-	36223002	7	5	435	1	0	1	0	1	0	0	0	0	9623	1339	47	0	5737	0	MLL4	19	36223002	Frame_Shift_Del	DEL	G	TCGA-XK-AAIW-01A-11D-A41K-08	3276	36223002	22905981	8231	29156											
ARHGAP33	115703	broad.mit.edu	37	chr19	36271177	36271177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaatatccctgcagtggCggccgcccatgtgatcaaac	10	8	9	14	2	2	1	2	1	0	0	3	1	3	1	3	2	2	1	3	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36271177C>T	ENST00000007510.4	+	7	710	c.566C>T	c.(565-567)gCg>gTg	p.A189V	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A189V|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A53V			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	189	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)	p.A189V(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCTGCAGTGGCGGCCGCCCAT	0.592																																						ENST00000007510.4																			1	Substitution - Missense(1)	p.A189V(1)	large_intestine(1)	endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(565-567)gCg>gTg		Rho GTPase activating protein 33							45	46	45					19																	36271177		2203	4300	6503	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36271177C>T	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.566C>T	19.37:g.36271177C>T	ENSP00000007510:p.Ala189Val					ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A189V|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A53V	p.A189V			O14559	RHG33_HUMAN			7	710	+			189			SH3.		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.566C>T		.	.	.	.	.	.	.	.	.	.	C	20.1	3.932910	0.73442	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.27890	1.64;1.64;1.64	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000002	T	0.52741	0.1753	L	0.58428	1.81	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.55347	-0.8155	10	0.62326	D	0.03	.	16.6967	0.85337	0.0:1.0:0.0:0.0	.	53;189	O14559-10;O14559-11	.;.	V	189;189;53	ENSP00000007510:A189V;ENSP00000320038:A189V;ENSP00000368227:A53V	ENSP00000007510:A189V	A	+	2	0	ARHGAP33	40963017	1.000000	0.71417	0.956000	0.39512	0.031000	0.12232	7.382000	0.79729	2.227000	0.72691	0.561000	0.74099	GCG		0.592	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		27	18	0	0	0	1	0	27	18					T	36271177	C	T	36271177	3	4	435	1	0	0	0	0	1	0	0	0	882	768	27	1	592	1	ARHGAP33	19	36271177	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	48175	36271177	22857806	8232	29157											
NPHS1	4868	broad.mit.edu	37	chr19	36340544	36340544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcctattatctgagctcCggggtgtcaccctgggatga	7	11	12	11	1	2	2	1	2	1	0	3	3	3	3	3	3	2	1	3	3	2	2	rs114428177|rs386833956		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36340544C>T	ENST00000378910.5	-	6	619	c.620G>A	c.(619-621)cGg>cAg	p.R207Q	NPHS1_ENST00000591817.1_5'Flank|NPHS1_ENST00000353632.6_Missense_Mutation_p.R207Q	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	207	Ig-like C2-type 2.		TPR -> I (in NPHS1). {ECO:0000269|PubMed:20172850, ECO:0000269|PubMed:9915943}.		cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATCTGAGCTCCGGGGTGTCAC	0.542													c|||	1	0.000199681	0	0	5008	,	,		18301	0.001		0	False		,,,				2504	0					ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(619-621)cGg>cAg		nephrosis 1, congenital, Finnish type (nephrin)							63	62	63					19																	36340544		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36340544C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.620G>A	19.37:g.36340544C>T	ENSP00000368190:p.Arg207Gln					NPHS1_ENST00000353632.6_Missense_Mutation_p.R207Q	p.R207Q	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	619	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		207		TPR -> I (in NPHS1).	Ig-like C2-type 2.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.620G>A	CCDS32996.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	4.455	0.084189	0.08583	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.75704	-0.96;-0.96	5.53	0.782	0.18567	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.466841	0.23026	N	0.052783	T	0.37972	0.1023	N	0.02011	-0.69	0.26937	N	0.96633	B	0.06786	0.001	B	0.08055	0.003	T	0.17018	-1.0383	10	0.18276	T	0.48	-8.7913	1.961	0.03386	0.1315:0.1552:0.1362:0.577	.	207	O60500	NPHN_HUMAN	Q	207	ENSP00000368190:R207Q;ENSP00000343634:R207Q	ENSP00000343634:R207Q	R	-	2	0	NPHS1	41032384	1.000000	0.71417	0.999000	0.59377	0.129000	0.20672	0.769000	0.26604	0.405000	0.25532	-1.164000	0.01763	CGG		0.542	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			12	21	0	0	0	1	0	12	21					T	36340544	C	T	36340544	3	4	435	1	0	0	0	0	1	0	0	0	10582	652	23	2	3201	2	NPHS1	19	36340544	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	69367	36340544	22788439	8233	29158											
KIRREL2	84063	broad.mit.edu	37	chr19	36348250	36348250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgaactctcctaggccCgtcgccccatttcctgcaac	6	8	7	20	3	1	0	0	0	1	0	4	1	2	0	7	1	3	1	7	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36348250C>T	ENST00000360202.5	+	2	263	c.65C>T	c.(64-66)cCg>cTg	p.P22L	KIRREL2_ENST00000262625.7_Missense_Mutation_p.P22L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.P22L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	22					cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				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)			CTCCTAGGCCCGTCGCCCCAT	0.662																																						ENST00000360202.5																			0				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						c.(64-66)cCg>cTg		kin of IRRE like 2 (Drosophila)							45	54	51					19																	36348250		2198	4285	6483	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36348250C>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.65C>T	19.37:g.36348250C>T	ENSP00000353331:p.Pro22Leu					NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.P22L|KIRREL2_ENST00000262625.7_Missense_Mutation_p.P22L|KIRREL2_ENST00000586102.2_Missense_Mutation_p.P22L	p.P22L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	263	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		22					C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.65C>T	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	C	8.085	0.773225	0.16051	.	.	ENSG00000126259	ENST00000262625;ENST00000360202;ENST00000341658;ENST00000270294	T;T	0.65178	-0.14;-0.09	4.77	-5.61	0.02489	.	1.842020	0.02836	N	0.127344	T	0.29882	0.0747	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.21348	-1.0248	10	0.09338	T	0.73	0.4309	2.4855	0.04597	0.1233:0.3083:0.3671:0.2012	.	22;22;22	F1T0I2;Q6UWL6;Q6UWL6-2	.;KIRR2_HUMAN;.	L	22	ENSP00000262625:P22L;ENSP00000353331:P22L	ENSP00000262625:P22L	P	+	2	0	KIRREL2	41040090	0.000000	0.05858	0.000000	0.03702	0.275000	0.26752	-0.323000	0.07997	-0.423000	0.07394	0.650000	0.86243	CCG		0.662	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		34	46	0	0	0	1	0	34	46					T	36348250	C	T	36348250	3	4	435	1	0	0	0	0	1	0	0	0	8325	652	23	2	71	2	KIRREL2	19	36348250	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7706	36348250	22780733	8234	29159											
APLP1	333	broad.mit.edu	37	chr19	36365707	36365707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaggaacagaggcacaCgctgcgccactaccagcatg	13	3	12	13	2	0	2	0	0	0	2	0	3	0	3	2	2	4	4	2	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36365707C>T	ENST00000221891.4	+	10	1472	c.1280C>T	c.(1279-1281)aCg>aTg	p.T427M	APLP1_ENST00000586861.1_Missense_Mutation_p.T421M|APLP1_ENST00000537454.2_Missense_Mutation_p.T388M|APLP1_ENST00000589298.2_3'UTR	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	427	Heparin-binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGAGGCACACGCTGCGCCAC	0.652																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(1279-1281)aCg>aTg		amyloid beta (A4) precursor-like protein 1							61	48	53					19																	36365707		2203	4300	6503	SO:0001583	missense	333				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	g.chr19:36365707C>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1280C>T	19.37:g.36365707C>T	ENSP00000221891:p.Thr427Met					APLP1_ENST00000537454.2_Missense_Mutation_p.T388M|APLP1_ENST00000586861.1_Missense_Mutation_p.T421M|APLP1_ENST00000589298.2_3'UTR	p.T427M	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		10	1472	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		427			Heparin-binding (By similarity).		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.1280C>T	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489299	0.84962	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.52295	0.67;0.67	4.72	4.72	0.59763	Amyloidogenic glycoprotein, E2 domain (2);	0.139429	0.33813	N	0.004533	T	0.67468	0.2896	M	0.70842	2.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.993;1.0;1.0	T	0.71530	-0.4565	10	0.66056	D	0.02	-15.6803	15.1758	0.72910	0.0:1.0:0.0:0.0	.	421;388;427;427	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	M	388;427	ENSP00000441501:T388M;ENSP00000221891:T427M	ENSP00000221891:T427M	T	+	2	0	APLP1	41057547	1.000000	0.71417	0.918000	0.36340	0.974000	0.67602	5.381000	0.66208	2.171000	0.68590	0.555000	0.69702	ACG		0.652	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		15	16	0	0	0	1	0	15	16					T	36365707	C	T	36365707	3	4	435	1	0	0	0	0	1	0	0	0	778	536	19	1	1318	1	APLP1	19	36365707	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17457	36365707	22763276	8235	29160											
APLP1	333	broad.mit.edu	37	chr19	36365764	36365764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagaaggcacagcagatgcGcttccaggtgctcacatcct	10	7	11	13	2	1	2	1	0	0	2	3	3	3	2	2	2	3	4	2	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36365764G>A	ENST00000221891.4	+	10	1529	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	APLP1_ENST00000586861.1_Missense_Mutation_p.R440H|APLP1_ENST00000537454.2_Missense_Mutation_p.R407H|APLP1_ENST00000589298.2_3'UTR	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	446	Collagen-binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCAGATGCGCTTCCAGGTG	0.622																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(1336-1338)cGc>cAc		amyloid beta (A4) precursor-like protein 1							55	50	52					19																	36365764		2203	4300	6503	SO:0001583	missense	333				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	g.chr19:36365764G>A	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1337G>A	19.37:g.36365764G>A	ENSP00000221891:p.Arg446His					APLP1_ENST00000537454.2_Missense_Mutation_p.R407H|APLP1_ENST00000586861.1_Missense_Mutation_p.R440H|APLP1_ENST00000589298.2_3'UTR	p.R446H	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		10	1529	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		446			Collagen-binding (By similarity).		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.1337G>A	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830312	0.71258	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.55052	0.54;0.54	4.72	3.68	0.42216	Amyloidogenic glycoprotein, E2 domain (2);	0.279536	0.25978	N	0.027089	T	0.61652	0.2364	L	0.49350	1.555	0.38636	D	0.951508	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.72625	0.971;0.978;0.922;0.953	T	0.63462	-0.6632	10	0.54805	T	0.06	-5.928	7.3562	0.26721	0.2007:0.0:0.7993:0.0	.	440;407;446;446	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	H	407;446	ENSP00000441501:R407H;ENSP00000221891:R446H	ENSP00000221891:R446H	R	+	2	0	APLP1	41057604	1.000000	0.71417	0.994000	0.49952	0.849000	0.48306	4.280000	0.58959	0.977000	0.38444	0.555000	0.69702	CGC		0.622	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		4	15	0	0	0	1	0	4	15					A	36365764	G	A	36365764	3	1	435	1	0	0	0	0	1	0	0	0	778	1087	38	1	1375	1	APLP1	19	36365764	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	57	36365764	22763219	8236	29161											
LRFN3	79414	broad.mit.edu	37	chr19	36430574	36430574	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcgacctggccaacatgAcaggcctgctgcatctgagc	8	6	12	15	2	1	2	0	2	1	0	1	3	1	2	4	2	4	2	4	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36430574A>G	ENST00000588831.1	+	3	1301	c.247A>G	c.(247-249)Aca>Gca	p.T83A	LRFN3_ENST00000246529.3_Missense_Mutation_p.T83A			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	83					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGCCAACATGACAGGCCTGCT	0.711																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(247-249)Aca>Gca		leucine rich repeat and fibronectin type III domain containing 3							16	18	17					19																	36430574		2179	4252	6431	SO:0001583	missense	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36430574A>G	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.247A>G	19.37:g.36430574A>G	ENSP00000466989:p.Thr83Ala					LRFN3_ENST00000246529.3_Missense_Mutation_p.T83A	p.T83A			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	1301	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		83					Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.247A>G	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	A	19.12	3.766249	0.69878	.	.	ENSG00000126243	ENST00000246529	T	0.57436	0.4	4.44	4.44	0.53790	.	0.000000	0.37715	N	0.001969	T	0.65801	0.2726	M	0.75264	2.295	0.39019	D	0.959712	D	0.56968	0.978	P	0.60949	0.881	T	0.66610	-0.5880	10	0.25106	T	0.35	.	11.9686	0.53051	1.0:0.0:0.0:0.0	.	83	Q9BTN0	LRFN3_HUMAN	A	83	ENSP00000246529:T83A	ENSP00000246529:T83A	T	+	1	0	LRFN3	41122414	1.000000	0.71417	0.996000	0.52242	0.856000	0.48823	6.198000	0.72106	1.787000	0.52448	0.455000	0.32223	ACA		0.711	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		3	18	0	0	0	1	0	3	18					G	36430574	A	G	36430574	3	3	435	1	0	0	0	0	1	0	0	0	8939	275	10	4	249	4	LRFN3	19	36430574	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	64810	36430574	22698409	8237	29162											
LRFN3	79414	broad.mit.edu	37	chr19	36431691	36431691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggcctatcccgggcatccGcatgtaccagatccagtaca	9	7	10	15	3	0	1	0	0	0	1	3	1	3	1	5	2	2	4	5	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36431691G>A	ENST00000588831.1	+	3	2418	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H	LRFN3_ENST00000246529.3_Missense_Mutation_p.R455H			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	455	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGGGCATCCGCATGTACCAG	0.642																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(1363-1365)cGc>cAc		leucine rich repeat and fibronectin type III domain containing 3							30	27	28					19																	36431691		2203	4300	6503	SO:0001583	missense	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36431691G>A	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1364G>A	19.37:g.36431691G>A	ENSP00000466989:p.Arg455His					LRFN3_ENST00000246529.3_Missense_Mutation_p.R455H	p.R455H			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	2418	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		455			Fibronectin type-III.		Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.1364G>A	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963360	0.74016	.	.	ENSG00000126243	ENST00000246529	T	0.57752	0.38	4.77	4.77	0.60923	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.33457	N	0.004890	T	0.74589	0.3736	M	0.85630	2.765	0.46981	D	0.999271	D	0.89917	1.0	D	0.79784	0.993	T	0.78735	-0.2088	10	0.54805	T	0.06	.	15.3027	0.73966	0.0:0.0:1.0:0.0	.	455	Q9BTN0	LRFN3_HUMAN	H	455	ENSP00000246529:R455H	ENSP00000246529:R455H	R	+	2	0	LRFN3	41123531	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.718000	0.74713	2.204000	0.70986	0.591000	0.81541	CGC		0.642	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		9	5	0	0	0	1	0	9	5					A	36431691	G	A	36431691	3	1	435	1	0	0	0	0	1	0	0	0	8939	1087	38	1	1366	1	LRFN3	19	36431691	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1117	36431691	22697292	8238	29163											
WDR62	284403	broad.mit.edu	37	chr19	36557276	36557276	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacccaatatgaagcacAtcgtgtccatgggctaccaa	12	9	7	13	1	1	1	1	1	1	0	4	1	2	1	3	1	2	2	3	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36557276A>G	ENST00000270301.7	+	5	508	c.508A>G	c.(508-510)Atc>Gtc	p.I170V	WDR62_ENST00000401500.2_Missense_Mutation_p.I170V|WDR62_ENST00000388999.3_Missense_Mutation_p.I170V|WDR62_ENST00000378860.4_3'UTR			O43379	WDR62_HUMAN	WD repeat domain 62	170					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TATGAAGCACATCGTGTCCAT	0.577																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(508-510)Atc>Gtc		WD repeat domain 62							161	105	124					19																	36557276		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36557276A>G	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.508A>G	19.37:g.36557276A>G	ENSP00000270301:p.Ile170Val					WDR62_ENST00000270301.7_Missense_Mutation_p.I170V|WDR62_ENST00000388999.3_Missense_Mutation_p.I170V|WDR62_ENST00000378860.4_3'UTR	p.I170V	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		5	543	+	Esophageal squamous(110;0.162)		170					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.508A>G	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.790697	0.70452	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	5.79	5.79	0.91817	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.049342	0.85682	D	0.000000	T	0.59307	0.2184	N	0.24115	0.695	0.40490	D	0.980532	D;P;B	0.56521	0.976;0.844;0.285	P;P;B	0.59643	0.861;0.617;0.203	T	0.60566	-0.7238	10	0.37606	T	0.19	-26.3047	14.1367	0.65291	1.0:0.0:0.0:0.0	.	170;170;170	O43379-4;O43379;O43379-3	.;WDR62_HUMAN;.	V	170;170;170;170;192	ENSP00000384792:I170V;ENSP00000373651:I170V;ENSP00000368137:I170V;ENSP00000270301:I170V	ENSP00000270301:I170V	I	+	1	0	WDR62	41249116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.194000	0.58393	2.232000	0.73038	0.529000	0.55759	ATC		0.577	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		3	2	0	0	0	1	0	3	2					G	36557276	A	G	36557276	3	3	435	1	0	0	0	0	1	0	0	0	17310	217	8	4	526	4	WDR62	19	36557276	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	125585	36557276	22571707	8239	29164											
WDR62	284403	broad.mit.edu	37	chr19	36594100	36594100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagaccctggaggcctggCgcccaccacgtgagtgcccc	8	4	13	16	2	0	2	0	1	0	1	0	4	0	3	6	3	1	0	6	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36594100C>T	ENST00000270301.7	+	29	3490	c.3490C>T	c.(3490-3492)Cgc>Tgc	p.R1164C	WDR62_ENST00000401500.2_Missense_Mutation_p.R1169C			O43379	WDR62_HUMAN	WD repeat domain 62	1164					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGAGGCCTGGCGCCCACCACG	0.682																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(3505-3507)Cgc>Tgc		WD repeat domain 62							48	45	46					19																	36594100		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36594100C>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3490C>T	19.37:g.36594100C>T	ENSP00000270301:p.Arg1164Cys					WDR62_ENST00000270301.7_Missense_Mutation_p.R1164C	p.R1169C	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		29	3540	+	Esophageal squamous(110;0.162)		1164					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.3505C>T	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	C	9.828	1.187661	0.21870	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.44482	1.02;0.92	5.11	-2.74	0.05932	.	1.966960	0.02180	N	0.060421	T	0.18257	0.0438	N	0.03608	-0.345	0.23743	N	0.996963	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.11131	-1.0600	10	0.37606	T	0.19	-0.3012	2.168	0.03842	0.1501:0.405:0.1539:0.2909	.	1169;1164	O43379-4;O43379	.;WDR62_HUMAN	C	1169;1164	ENSP00000384792:R1169C;ENSP00000270301:R1164C	ENSP00000270301:R1164C	R	+	1	0	WDR62	41285940	0.000000	0.05858	0.027000	0.17364	0.063000	0.16089	-1.313000	0.02718	-0.208000	0.10171	-0.484000	0.04775	CGC		0.682	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		7	26	0	0	0	1	0	7	26					T	36594100	C	T	36594100	3	4	435	1	0	0	0	0	1	0	0	0	17310	768	27	1	3619	1	WDR62	19	36594100	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	36824	36594100	22534883	8240	29165											
WDR62	284403	broad.mit.edu	37	chr19	36594432	36594432	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatcacgcagcatctccctCggtgacagtgagggccctat	9	9	10	13	2	2	2	1	2	1	0	4	2	2	2	2	2	1	2	2	2	2	2	rs143638774		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36594432C>T	ENST00000270301.7	+	30	3687	c.3687C>T	c.(3685-3687)ctC>ctT	p.L1229L	WDR62_ENST00000401500.2_Silent_p.L1234L			O43379	WDR62_HUMAN	WD repeat domain 62	1229					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCATCTCCCTCGGTGACAGTG	0.667																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(3700-3702)ctC>ctT		WD repeat domain 62		C	,	1,4405	2.1+/-5.4	0,1,2202	78	71	73		3702,3687	-9.2	0	19	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	WDR62	NM_001083961.1,NM_173636.4	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	1234/1524,1229/1519	36594432	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	284403				cerebral cortex development	nucleus		g.chr19:36594432C>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3687C>T	19.37:g.36594432C>T						WDR62_ENST00000270301.7_Silent_p.L1229L	p.L1234L	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		30	3737	+	Esophageal squamous(110;0.162)		1229					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Silent	SNP	ENST00000270301.7	37	c.3702C>T	CCDS33001.1																																																																																				0.667	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		16	35	0	0	0	1	0	16	35					T	36594432	C	T	36594432	2	4	435	1	0	0	0	0	0	0	0	1	17310	871	31	2		2	WDR62	19	36594432	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	332	36594432	22534551	8241	29166											
CAPNS1	826	broad.mit.edu	37	chr19	36633826	36633826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggacatggaggtcagcGccacagaactcatgaacatt	13	6	11	11	2	2	2	2	1	0	1	2	4	2	4	1	3	3	1	1	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36633826G>A	ENST00000246533.3	+	5	947	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_Missense_Mutation_p.A117T|CAPNS1_ENST00000588815.1_Missense_Mutation_p.A117T|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000590874.1_Missense_Mutation_p.A87T|CAPNS1_ENST00000587718.1_Missense_Mutation_p.A117T	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	117	EF-hand 1; atypical. {ECO:0000255|PROSITE-ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGAGGTCAGCGCCACAGAACT	0.522																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)	ENST00000246533.3																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(349-351)Gcc>Acc		calpain, small subunit 1							105	90	95					19																	36633826		2203	4300	6503	SO:0001583	missense	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36633826G>A	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"EF-hand domain containing"	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.349G>A	19.37:g.36633826G>A	ENSP00000246533:p.Ala117Thr					CAPNS1_ENST00000587718.1_Missense_Mutation_p.A117T|CAPNS1_ENST00000590874.1_Missense_Mutation_p.A87T|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000588815.1_Missense_Mutation_p.A117T|CAPNS1_ENST00000588780.1_Missense_Mutation_p.A117T	p.A117T	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		5	947	+	Esophageal squamous(110;0.162)		117			EF-hand 1; atypical.		A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	ENST00000246533.3	37	c.349G>A	CCDS12489.1	.	.	.	.	.	.	.	.	.	.	g	21.1	4.095544	0.76870	.	.	ENSG00000126247	ENST00000246533	T	0.78816	-1.21	4.85	3.8	0.43715	EF-hand-like domain (1);	0.111281	0.64402	D	0.000009	D	0.88897	0.6562	M	0.93854	3.465	0.80722	D	1	D	0.76494	0.999	P	0.60012	0.867	D	0.91287	0.5056	10	0.62326	D	0.03	.	13.2061	0.59798	0.0:0.1614:0.8386:0.0	.	117	P04632	CPNS1_HUMAN	T	117	ENSP00000246533:A117T	ENSP00000246533:A117T	A	+	1	0	CAPNS1	41325666	0.998000	0.40836	0.969000	0.41365	0.995000	0.86356	3.179000	0.50887	1.380000	0.46344	0.655000	0.94253	GCC		0.522	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			18	21	0	0	0	1	0	18	21					A	36633826	G	A	36633826	3	1	435	1	0	0	0	0	1	0	0	0	2633	1087	38	1	363	1	CAPNS1	19	36633826	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	39394	36633826	22495157	8242	29167											
COX7A1	1346	broad.mit.edu	37	chr19	36642611	36642611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcgcactcggttctgaaagCggttccgggcggtggagctg	5	8	17	11	6	1	1	0	1	1	0	3	2	2	2	1	5	2	4	1	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36642611C>T	ENST00000292907.3	-	2	523	c.62G>A	c.(61-63)cGc>cAc	p.R21H	COX7A1_ENST00000437291.2_5'UTR	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	21					generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTTCTGAAAGCGGTTCCGGGC	0.706																																						ENST00000292907.3																			0				endometrium(2)|large_intestine(1)	3						c.(61-63)cGc>cAc		cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)							17	21	20					19																	36642611		2194	4297	6491	SO:0001583	missense	1346				generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr19:36642611C>T	BC002757	CCDS12490.1	19q13.1	2011-07-04			ENSG00000161281	ENSG00000161281	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2287	protein-coding gene	gene with protein product		123995		COX7A		1327965, 2550906	Standard	NM_001864		Approved	COX7AH	uc002odm.1	P24310	OTTHUMG00000048144	ENST00000292907.3:c.62G>A	19.37:g.36642611C>T	ENSP00000292907:p.Arg21His					COX7A1_ENST00000437291.2_5'UTR	p.R21H	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		2	523	-	Esophageal squamous(110;0.162)		21						Missense_Mutation	SNP	ENST00000292907.3	37	c.62G>A	CCDS12490.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.912|9.912	1.209733|1.209733	0.22289|0.22289	.|.	.|.	ENSG00000161281|ENSG00000161281	ENST00000437291|ENST00000292907	.|T	.|0.45668	.|0.89	5.62|5.62	-3.99|-3.99	0.04069|0.04069	.|.	.|0.863289	.|0.10403	.|N	.|0.678955	T|T	0.16085|0.16085	0.0387|0.0387	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.33752|0.33752	-0.9856|-0.9856	4|9	.|0.08599	.|T	.|0.76	-2.6948|-2.6948	5.7205|5.7205	0.17985|0.17985	0.1479:0.2725:0.0:0.5796|0.1479:0.2725:0.0:0.5796	.|.	.|21	.|P24310	.|CX7A1_HUMAN	T|H	51|21	.|ENSP00000292907:R21H	.|ENSP00000292907:R21H	A|R	-|-	1|2	0|0	COX7A1|COX7A1	41334451|41334451	0.091000|0.091000	0.21658|0.21658	0.396000|0.396000	0.26296|0.26296	0.033000|0.033000	0.12548|0.12548	-0.638000|-0.638000	0.05452|0.05452	-0.144000|-0.144000	0.11314|0.11314	0.639000|0.639000	0.83563|0.83563	GCT|CGC		0.706	COX7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109545.2	NM_001864		3	6	0	0	0	1	0	3	6					T	36642611	C	T	36642611	3	4	435	1	0	0	0	0	1	0	0	0	3779	768	27	1	189	1	COX7A1	19	36642611	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8785	36642611	22486372	8243	29168											
ZNF382	84911	broad.mit.edu	37	chr19	37118007	37118007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcaccagagaactcacaCaggagagaaaccgtatcagt	16	6	9	10	1	3	3	3	1	0	2	3	6	3	4	2	1	2	1	2	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:37118007C>T	ENST00000292928.2	+	5	1321	c.1208C>T	c.(1207-1209)aCa>aTa	p.T403I	ZNF382_ENST00000423582.1_Missense_Mutation_p.T354I|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000435416.1_Missense_Mutation_p.T402I|ZNF382_ENST00000439428.1_Missense_Mutation_p.T402I	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	403	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAACTCACACAGGAGAGAAA	0.453																																						ENST00000435416.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34						c.(1204-1206)aCa>aTa		zinc finger protein 382							94	92	93					19																	37118007		2203	4300	6503	SO:0001583	missense	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37118007C>T	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"Zinc fingers, C2H2-type", "-"	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1208C>T	19.37:g.37118007C>T	ENSP00000292928:p.Thr403Ile					ZNF382_ENST00000439428.1_Missense_Mutation_p.T402I|ZNF382_ENST00000292928.2_Missense_Mutation_p.T403I|ZNF382_ENST00000423582.1_Missense_Mutation_p.T354I	p.T402I			Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2700	+	Esophageal squamous(110;0.198)		403			Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	c.1205C>T	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935503	0.52866	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.27	4.27	0.50696	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000428	T	0.38188	0.1031	M	0.81802	2.56	0.31573	N	0.656077	P;P;P	0.44986	0.815;0.815;0.847	B;B;P	0.45195	0.342;0.342;0.473	T	0.56798	-0.7919	10	0.72032	D	0.01	.	14.5487	0.68050	0.0:1.0:0.0:0.0	.	402;402;403	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	I	354;403;402;402	ENSP00000389722:T354I;ENSP00000292928:T403I;ENSP00000407593:T402I;ENSP00000410113:T402I	ENSP00000292928:T403I	T	+	2	0	ZNF382	41809847	0.973000	0.33851	1.000000	0.80357	0.959000	0.62525	2.391000	0.44424	2.375000	0.81037	0.591000	0.81541	ACA		0.453	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		32	51	0	0	0	1	0	32	51					T	37118007	C	T	37118007	3	4	435	1	0	0	0	0	1	0	0	0	17870	478	17	3	1218	3	ZNF382	19	37118007	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	475396	37118007	22010976	8244	29169											
ZNF585A	199704	broad.mit.edu	37	chr19	37643374	37643374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taatgagatttgaccggttgGtgaatgccttcccacattta	10	14	9	8	1	0	3	0	3	0	1	1	4	1	3	3	2	1	1	3	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:37643374G>A	ENST00000356958.4	-	5	1685	c.1427C>T	c.(1426-1428)aCc>aTc	p.T476I	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.T421I|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.T421I			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			TGACCGGTTGGTGAATGCCTT	0.413																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1426-1428)aCc>aTc		zinc finger protein 585A							111	108	109					19																	37643374		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643374G>A	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"Zinc fingers, C2H2-type", "-"	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1427C>T	19.37:g.37643374G>A	ENSP00000349440:p.Thr476Ile					ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.T421I|ZNF585A_ENST00000292841.5_Missense_Mutation_p.T421I|ZNF585A_ENST00000588723.1_Intron	p.T476I			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1685	-			476					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.1427C>T		.	.	.	.	.	.	.	.	.	.	G	4.393	0.072563	0.08436	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.36520	1.25;1.25;1.25	2.72	0.0427	0.14218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.412814	0.17883	N	0.158817	T	0.42449	0.1203	.	.	.	0.09310	N	1	P	0.49447	0.924	P	0.57776	0.827	T	0.28106	-1.0054	9	0.27785	T	0.31	.	9.4417	0.38673	0.0:0.6109:0.3891:0.0	.	476	Q6P3V2	Z585A_HUMAN	I	476;421;421	ENSP00000349440:T476I;ENSP00000292841:T421I;ENSP00000375998:T421I	ENSP00000292841:T421I	T	-	2	0	ZNF585A	42335214	0.000000	0.05858	0.014000	0.15608	0.291000	0.27294	-5.687000	0.00104	0.426000	0.26116	0.561000	0.74099	ACC		0.413	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		27	170	0	0	0	1	0	27	170					A	37643374	G	A	37643374	3	1	435	1	0	0	0	0	1	0	0	0	18014	1261	44	3	886	3	ZNF585A	19	37643374	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	525367	37643374	21485609	8245	29170											
ZNF585A	199704	broad.mit.edu	37	chr19	37644232	37644232	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaaggattttccacatTcattgcatttaaagggtttc	14	14	7	6	0	1	0	1	0	0	0	3	2	2	1	1	2	1	2	1	2	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:37644232T>C	ENST00000356958.4	-	5	827	c.569A>G	c.(568-570)gAa>gGa	p.E190G	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E135G|ZNF585A_ENST00000355533.2_Missense_Mutation_p.E135G|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E135G			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			TTTTCCACATTCATTGCATTT	0.408																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(568-570)gAa>gGa		zinc finger protein 585A							111	106	108					19																	37644232		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37644232T>C	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"Zinc fingers, C2H2-type", "-"	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.569A>G	19.37:g.37644232T>C	ENSP00000349440:p.Glu190Gly					ZNF585A_ENST00000355533.2_Missense_Mutation_p.E135G|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E135G|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E135G|ZNF585A_ENST00000588723.1_Intron	p.E190G			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	827	-			190					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.569A>G		.	.	.	.	.	.	.	.	.	.	T	9.493	1.101307	0.20632	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	3.31	3.31	0.37934	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.410581	0.17875	N	0.159067	T	0.18215	0.0437	L	0.48218	1.51	0.24090	N	0.995914	B	0.15141	0.012	B	0.28232	0.087	T	0.19095	-1.0316	10	0.62326	D	0.03	.	11.057	0.47925	0.0:0.0:0.0:1.0	.	190	Q6P3V2	Z585A_HUMAN	G	190;135;135;135	ENSP00000349440:E190G;ENSP00000292841:E135G;ENSP00000375998:E135G;ENSP00000347724:E135G	ENSP00000292841:E135G	E	-	2	0	ZNF585A	42336072	0.005000	0.15991	0.292000	0.24919	0.662000	0.39071	1.619000	0.36965	1.498000	0.48600	0.459000	0.35465	GAA		0.408	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		24	112	0	0	0	1	0	24	112					C	37644232	T	C	37644232	3	2	435	1	0	0	0	0	1	0	0	0	18014	1783	62	4	1744	4	ZNF585A	19	37644232	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	858	37644232	21484751	8246	29171											
HKR1	284459	broad.mit.edu	37	chr19	37854238	37854238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaaatcaaccctgagcaCgcaccagaggacacactcag	14	3	9	15	2	2	2	2	1	0	1	2	4	2	4	3	2	2	2	3	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:37854238C>T	ENST00000324411.4	+	6	1810	c.1541C>T	c.(1540-1542)aCg>aTg	p.T514M	HKR1_ENST00000589392.1_Missense_Mutation_p.T496M|HKR1_ENST00000541583.2_Missense_Mutation_p.T453M|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Missense_Mutation_p.T495M|HKR1_ENST00000591471.1_Missense_Mutation_p.T241M|HKR1_ENST00000544914.1_Missense_Mutation_p.T241M	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	514					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			ACCCTGAGCACGCACCAGAGG	0.507																																						ENST00000591471.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(721-723)aCg>aTg		HKR1, GLI-Kruppel zinc finger family member							76	73	74					19																	37854238		2203	4300	6503	SO:0001583	missense	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37854238C>T	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"Zinc fingers, C2H2-type", "-"	4928	protein-coding gene	gene with protein product	"oncogene HKR1"	165250	"GLI-Kruppel family member HKR1"			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1541C>T	19.37:g.37854238C>T	ENSP00000315505:p.Thr514Met					HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Missense_Mutation_p.T241M|HKR1_ENST00000324411.4_Missense_Mutation_p.T514M|HKR1_ENST00000541583.2_Missense_Mutation_p.T453M|HKR1_ENST00000392153.3_Missense_Mutation_p.T495M|HKR1_ENST00000589392.1_Missense_Mutation_p.T496M	p.T241M			P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		9	2363	+			514					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	c.722C>T	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803795	0.31869	.	.	ENSG00000181666	ENST00000544914;ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	2.57	2.57	0.30868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19846	0.0477	N	0.20610	0.595	0.09310	N	0.999999	D;D;P;D	0.89917	0.999;1.0;0.857;0.997	D;P;B;P	0.63703	0.917;0.864;0.146;0.537	T	0.08638	-1.0712	9	0.46703	T	0.11	.	5.2622	0.15580	0.23:0.5453:0.2247:0.0	.	453;495;514;496	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	M	241;293;495;550;514;453	ENSP00000437774:T241M;ENSP00000375994:T495M;ENSP00000315505:T514M;ENSP00000438261:T453M	ENSP00000315505:T514M	T	+	2	0	HKR1	42546078	0.000000	0.05858	0.871000	0.34182	0.830000	0.47004	-4.605000	0.00209	1.751000	0.51876	0.644000	0.83932	ACG		0.507	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		14	34	0	0	0	1	0	14	34					T	37854238	C	T	37854238	3	4	435	1	0	0	0	0	1	0	0	0	7194	536	19	1	1555	1	HKR1	19	37854238	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	210006	37854238	21274745	8247	29172											
ZNF569	148266	broad.mit.edu	37	chr19	37905219	37905219	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaatttcttttgacatTcattgcctttttcttcagtc	7	21	4	9	0	4	1	2	1	2	0	5	1	4	1	1	0	2	1	1	0	1	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:37905219T>A	ENST00000316950.6	-	6	898	c.341A>T	c.(340-342)gAa>gTa	p.E114V	ZNF569_ENST00000592490.1_3'UTR|ZNF569_ENST00000392149.2_Missense_Mutation_p.E114V|ZNF569_ENST00000392150.2_5'UTR	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTTTGACATTCATTGCCTTT	0.348																																						ENST00000316950.6																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(340-342)gAa>gTa		zinc finger protein 569							77	75	75					19																	37905219		2203	4298	6501	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37905219T>A	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.341A>T	19.37:g.37905219T>A	ENSP00000325018:p.Glu114Val					ZNF569_ENST00000392150.2_5'UTR|ZNF569_ENST00000392149.2_Missense_Mutation_p.E114V|ZNF569_ENST00000592490.1_3'UTR	p.E114V	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	898	-			114					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.341A>T	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.890917	0.33348	.	.	ENSG00000196437	ENST00000316950	T	0.08102	3.13	3.58	2.54	0.30619	.	0.237748	0.21711	N	0.070265	T	0.06962	0.0177	L	0.34521	1.04	0.19300	N	0.99997	B	0.20052	0.041	B	0.14023	0.01	T	0.28170	-1.0052	10	0.56958	D	0.05	.	8.9726	0.35917	0.0:0.0:0.3583:0.6417	.	114	Q5MCW4	ZN569_HUMAN	V	114	ENSP00000325018:E114V	ENSP00000325018:E114V	E	-	2	0	ZNF569	42597059	0.499000	0.26083	0.884000	0.34674	0.920000	0.55202	2.690000	0.47001	0.542000	0.28846	0.482000	0.46254	GAA		0.348	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		19	34	0	0	0	1	0	19	34					A	37905219	T	A	37905219	3	1	435	1	0	0	0	0	1	0	0	0	17997	1783	62	5	1723	5	ZNF569	19	37905219	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	50981	37905219	21223764	8248	29173											
ZNF793	390927	broad.mit.edu	37	chr19	38028242	38028242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctacagaaaaaccccacGtctgtagtgagtgtgggaaa	14	7	10	10	1	1	2	0	1	1	1	1	3	1	3	3	1	2	1	3	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38028242G>A	ENST00000587143.1	+	6	917	c.682G>A	c.(682-684)Gtc>Atc	p.V228I	ZNF793_ENST00000445217.1_Missense_Mutation_p.V228I|ZNF793_ENST00000542455.1_Missense_Mutation_p.V228I|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAACCCCACGTCTGTAGTGA	0.478																																					Melanoma(44;400 1431 1499 19093)	ENST00000445217.1																			0				kidney(2)|lung(1)	3						c.(682-684)Gtc>Atc		zinc finger protein 793							32	33	33					19																	38028242		2034	4212	6246	SO:0001583	missense	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38028242G>A	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"Zinc fingers, C2H2-type", "-"	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.682G>A	19.37:g.38028242G>A	ENSP00000468605:p.Val228Ile					ZNF793_ENST00000587143.1_Missense_Mutation_p.V228I|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.V228I	p.V228I			Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	717	+			228					E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	c.682G>A	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322029	0.23994	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.07567	3.18;3.18	3.83	0.233	0.15386	.	0.814712	0.10008	N	0.727522	T	0.04272	0.0118	N	0.16037	0.36	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.42498	-0.9448	10	0.62326	D	0.03	.	1.2014	0.01886	0.2077:0.1727:0.4429:0.1768	.	228	E9PGN4	.	I	228;228;228;227	ENSP00000444355:V228I;ENSP00000396402:V228I	ENSP00000318811:V227I	V	+	1	0	ZNF793	42720082	0.000000	0.05858	0.119000	0.21687	0.991000	0.79684	-1.266000	0.02842	0.040000	0.15660	0.643000	0.83706	GTC		0.478	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		11	12	0	0	0	1	0	11	12					A	38028242	G	A	38028242	3	1	435	1	0	0	0	0	1	0	0	0	18162	1145	40	1	696	1	ZNF793	19	38028242	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	123023	38028242	21100741	8249	29174											
ZNF793	390927	broad.mit.edu	37	chr19	38028574	38028574	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcacacaggagaaagaccGtatcgttgcagagaatgtgg	14	7	13	7	2	0	3	0	0	0	3	1	5	0	3	1	2	2	4	1	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38028574G>A	ENST00000587143.1	+	6	1249	c.1014G>A	c.(1012-1014)ccG>ccA	p.P338P	ZNF793_ENST00000445217.1_Silent_p.P338P|ZNF793_ENST00000542455.1_Silent_p.P338P|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAAAGACCGTATCGTTGCA	0.453																																					Melanoma(44;400 1431 1499 19093)	ENST00000445217.1																			0				kidney(2)|lung(1)	3						c.(1012-1014)ccG>ccA		zinc finger protein 793							93	104	100					19																	38028574		2170	4281	6451	SO:0001819	synonymous_variant	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38028574G>A	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"Zinc fingers, C2H2-type", "-"	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.1014G>A	19.37:g.38028574G>A						ZNF793_ENST00000587143.1_Silent_p.P338P|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Silent_p.P338P	p.P338P			Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1049	+			338					E9PGN4|Q7Z3Q9	Silent	SNP	ENST00000587143.1	37	c.1014G>A	CCDS46062.1																																																																																				0.453	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		14	20	0	0	0	1	0	14	20					A	38028574	G	A	38028574	2	1	435	1	0	0	0	0	0	0	0	1	18162	1132	40	1		1	ZNF793	19	38028574	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	332	38028574	21100409	8250	29175											
ZNF793	390927	broad.mit.edu	37	chr19	38028666	38028666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagagaagccctatgggtGcaatgaatgtgggaaagctt	13	8	15	5	0	0	2	0	1	0	1	0	5	0	4	1	3	3	2	1	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38028666G>A	ENST00000587143.1	+	6	1341	c.1106G>A	c.(1105-1107)tGc>tAc	p.C369Y	ZNF793_ENST00000445217.1_Missense_Mutation_p.C369Y|ZNF793_ENST00000542455.1_Missense_Mutation_p.C369Y|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCTATGGGTGCAATGAATGT	0.428																																					Melanoma(44;400 1431 1499 19093)	ENST00000445217.1																			0				kidney(2)|lung(1)	3						c.(1105-1107)tGc>tAc		zinc finger protein 793							57	63	61					19																	38028666		2143	4286	6429	SO:0001583	missense	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38028666G>A	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"Zinc fingers, C2H2-type", "-"	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.1106G>A	19.37:g.38028666G>A	ENSP00000468605:p.Cys369Tyr					ZNF793_ENST00000587143.1_Missense_Mutation_p.C369Y|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.C369Y	p.C369Y			Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1141	+			190					E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	c.1106G>A	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662999	0.67700	.	.	ENSG00000188227	ENST00000542455;ENST00000445217	D;D	0.85088	-1.94;-1.94	3.95	3.95	0.45737	.	.	.	.	.	D	0.93986	0.8074	M	0.93462	3.42	0.37485	D	0.916148	D	0.89917	1.0	D	0.97110	1.0	D	0.96722	0.9533	8	.	.	.	.	15.2562	0.73588	0.0:0.0:1.0:0.0	.	369	E9PGN4	.	Y	369	ENSP00000444355:C369Y;ENSP00000396402:C369Y	.	C	+	2	0	ZNF793	42720506	1.000000	0.71417	0.100000	0.21137	0.981000	0.71138	8.546000	0.90661	2.172000	0.68678	0.650000	0.86243	TGC		0.428	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		17	28	0	0	0	1	0	17	28					A	38028666	G	A	38028666	3	1	435	1	0	0	0	0	1	0	0	0	18162	1319	46	3	1120	3	ZNF793	19	38028666	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	92	38028666	21100317	8251	29176											
ZNF781	163115	broad.mit.edu	37	chr19	38160644	38160644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatcagtgtgaattttcCgatgtctattaaatcagaaa	13	15	6	7	1	4	2	3	1	2	1	6	3	5	2	1	0	0	0	1	0	5	4	rs149425681		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38160644C>T	ENST00000590008.1	-	5	1258	c.406G>A	c.(406-408)Gga>Aga	p.G136R	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000593040.1_5'Flank|ZNF781_ENST00000358582.4_Missense_Mutation_p.G136R			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						GTGAATTTTCCGATGTCTATT	0.368													C|||	1	0.000199681	0	0	5008	,	,		21702	0		0.001	False		,,,				2504	0					ENST00000358582.4																			0				NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(406-408)Gga>Aga		zinc finger protein 781		C	ARG/GLY	2,4404	4.2+/-10.8	0,2,2201	130	131	131		406	-0.9	0.1	19	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF781	NM_152605.3	125	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	136/328	38160644	3,13003	2203	4300	6503	SO:0001583	missense	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160644C>T	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"Zinc fingers, C2H2-type"	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.406G>A	19.37:g.38160644C>T	ENSP00000466370:p.Gly136Arg					ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Missense_Mutation_p.G136R	p.G136R	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN			4	1154	-			136					Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	c.406G>A	CCDS12507.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.09	1.832395	0.32421	4.54E-4	1.16E-4	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.04970	3.52	1.85	-0.88	0.10610	.	.	.	.	.	T	0.01454	0.0047	N	0.00387	-1.565	0.21627	N	0.999619	D	0.54047	0.964	B	0.38194	0.267	T	0.44559	-0.9320	9	0.51188	T	0.08	-0.0686	5.6998	0.17875	0.0:0.295:0.0:0.705	.	136	Q8N8C0	ZN781_HUMAN	R	136	ENSP00000351391:G136R	ENSP00000351391:G136R	G	-	1	0	ZNF781	42852484	0.007000	0.16637	0.147000	0.22382	0.241000	0.25554	0.029000	0.13666	-0.445000	0.07159	-0.624000	0.04008	GGA		0.368	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		36	48	0	0	0	1	0	36	48					T	38160644	C	T	38160644	3	4	435	1	0	0	0	0	1	0	0	0	18151	661	23	2	581	2	ZNF781	19	38160644	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	131978	38160644	20968339	8252	29177											
ZNF607	84775	broad.mit.edu	37	chr19	38190090	38190090	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacatgtaaagcccttcccGcattccttgcattcataggg	9	12	7	13	1	1	0	1	0	0	0	3	0	3	0	3	1	3	3	3	1	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38190090G>A	ENST00000355202.4	-	5	1537	c.942C>T	c.(940-942)tgC>tgT	p.C314C	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.C313C	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AGCCCTTCCCGCATTCCTTGC	0.398																																						ENST00000355202.4																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27						c.(940-942)tgC>tgT		zinc finger protein 607							114	115	115					19																	38190090		2203	4300	6503	SO:0001819	synonymous_variant	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38190090G>A	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.942C>T	19.37:g.38190090G>A						CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.C313C	p.C314C	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	1537	-			314					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP	ENST00000355202.4	37	c.942C>T	CCDS33006.1																																																																																				0.398	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		33	75	0	0	0	1	0	33	75					A	38190090	G	A	38190090	2	1	435	1	0	0	0	0	0	0	0	1	18030	1079	38	1		1	ZNF607	19	38190090	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29446	38190090	20938893	8253	29178											
ZNF573	126231	broad.mit.edu	37	chr19	38229572	38229572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacattcataaggttttcCaccagtatgaattttctgat	11	18	5	7	0	2	2	1	2	1	0	3	2	3	2	2	1	1	2	2	1	4	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38229572C>T	ENST00000590414.2	-	4	1840	c.1819G>A	c.(1819-1821)Gga>Aga	p.G607R	ZNF573_ENST00000339503.4_Missense_Mutation_p.G549R|ZNF573_ENST00000536220.1_Missense_Mutation_p.G519R|ZNF573_ENST00000357309.3_Missense_Mutation_p.G519R|ZNF573_ENST00000392138.1_Missense_Mutation_p.G520R			Q86YE8	ZN573_HUMAN	zinc finger protein 573	607					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TAAGGTTTTCCACCAGTATGA	0.388																																						ENST00000339503.4																			0				NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1645-1647)Gga>Aga		zinc finger protein 573							76	77	77					19																	38229572		2203	4300	6503	SO:0001583	missense	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38229572C>T	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"Zinc fingers, C2H2-type", "-"	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1819G>A	19.37:g.38229572C>T	ENSP00000465020:p.Gly607Arg					ZNF573_ENST00000536220.1_Missense_Mutation_p.G519R|ZNF573_ENST00000357309.3_Missense_Mutation_p.G519R|ZNF573_ENST00000590414.2_Missense_Mutation_p.G607R|ZNF573_ENST00000392138.1_Missense_Mutation_p.G520R	p.G549R	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		8	2146	-			587					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	c.1645G>A	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379261	0.82682	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	2.4	-0.844	0.10741	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10121	0.0248	N	0.20357	0.565	0.24148	N	0.995702	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.001;0.002;0.001	T	0.29181	-1.0020	9	0.87932	D	0	.	6.5989	0.22689	0.0:0.6693:0.0:0.3307	.	520;549;587;519	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	R	520;519;519;549;519	ENSP00000375983:G520R;ENSP00000440464:G519R;ENSP00000349861:G519R;ENSP00000340171:G549R	ENSP00000340171:G549R	G	-	1	0	ZNF573	42921412	0.002000	0.14202	0.024000	0.17045	0.992000	0.81027	1.630000	0.37081	-0.454000	0.07066	0.585000	0.79938	GGA		0.388	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		41	43	0	0	0	1	0	41	43					T	38229572	C	T	38229572	3	4	435	1	0	0	0	0	1	0	0	0	18002	603	21	3	182	3	ZNF573	19	38229572	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	39482	38229572	20899411	8254	29179											
DPF1	8193	broad.mit.edu	37	chr19	38713072	38713072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcctccaacagcgggCggggtacgtgtaaatctgtc	7	12	11	11	3	2	0	0	0	2	0	5	0	4	0	2	3	3	2	2	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38713072C>T	ENST00000420980.2	-	3	330	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	DPF1_ENST00000416611.1_Missense_Mutation_p.A76T|DPF1_ENST00000412732.1_Missense_Mutation_p.A20T|DPF1_ENST00000456296.1_Missense_Mutation_p.A76T|DPF1_ENST00000355526.4_Missense_Mutation_p.A102T|DPF1_ENST00000414789.1_Missense_Mutation_p.A20T	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	102					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAACAGCGGGCGGGGTACGTG	0.697																																						ENST00000416611.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(226-228)Gcc>Acc		D4, zinc and double PHD fingers family 1							110	108	109					19																	38713072		2203	4300	6503	SO:0001583	missense	0				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38713072C>T	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"Zinc fingers, PHD-type"	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.304G>A	19.37:g.38713072C>T	ENSP00000397354:p.Ala102Thr					DPF1_ENST00000412732.1_Missense_Mutation_p.A20T|DPF1_ENST00000420980.2_Missense_Mutation_p.A102T|DPF1_ENST00000414789.1_Missense_Mutation_p.A20T|DPF1_ENST00000456296.1_Missense_Mutation_p.A76T|DPF1_ENST00000355526.4_Missense_Mutation_p.A102T	p.A76T			Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	349	-	all_cancers(60;1.24e-06)		102					B3KSY8|Q08AJ0	Missense_Mutation	SNP	ENST00000420980.2	37	c.226G>A	CCDS33008.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	26.9|26.9	4.781021|4.781021	0.90282|0.90282	.|.	.|.	ENSG00000011332|ENSG00000011332	ENST00000420980;ENST00000437720;ENST00000412732;ENST00000416611;ENST00000414789;ENST00000456296;ENST00000438060;ENST00000434076;ENST00000438365|ENST00000355526	D;D;D;D;D;T|.	0.91464|.	-2.35;-2.85;-2.3;-2.85;-2.76;2.06|.	3.36|3.36	3.36|3.36	0.38483|0.38483	.|.	0.177921|.	0.33938|.	N|.	0.004415|.	T|T	0.73791|0.73791	0.3632|0.3632	M|M	0.77103|0.77103	2.36|2.36	0.50039|0.50039	D|D	0.999846|0.999846	D;D;D;D;D;D|.	0.89917|.	0.999;0.971;0.999;1.0;1.0;0.999|.	D;P;D;D;D;D|.	0.80764|.	0.994;0.649;0.969;0.988;0.98;0.941|.	T|T	0.76291|0.76291	-0.3013|-0.3013	10|5	0.87932|.	D|.	0|.	-8.3071|-8.3071	14.021|14.021	0.64555|0.64555	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	76;76;75;102;102;102|.	B4DMQ8;E9PDV3;C8C3P2;Q6PJ73;Q92782-2;Q92782|.	.;.;.;.;.;DPF1_HUMAN|.	T|H	102;102;20;76;20;76;20;76;20|94	ENSP00000397354:A102T;ENSP00000412098:A20T;ENSP00000390223:A76T;ENSP00000391884:A20T;ENSP00000411569:A76T;ENSP00000416347:A20T|.	ENSP00000412098:A20T|.	A|R	-|-	1|2	0|0	DPF1|DPF1	43404912|43404912	0.998000|0.998000	0.40836|0.40836	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	4.081000|4.081000	0.57627|0.57627	1.902000|1.902000	0.55061|0.55061	0.394000|0.394000	0.25966|0.25966	GCC|CGC		0.697	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			38	63	0	0	0	1	0	38	63					T	38713072	C	T	38713072	3	4	435	1	0	0	0	0	1	0	0	0	4716	768	27	1	1010	1	DPF1	19	38713072	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	483500	38713072	20415911	8255	29180											
CATSPERG	57828	broad.mit.edu	37	chr19	38860668	38860668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttccccaaggcatctttgCccctgaattcttcttcaagg	7	14	7	13	0	4	1	1	1	3	0	5	1	5	1	4	2	1	2	4	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38860668C>T	ENST00000409235.3	+	27	3192	c.3077C>T	c.(3076-3078)gCc>gTc	p.A1026V	CATSPERG_ENST00000410018.1_Missense_Mutation_p.A986V|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1026					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GGCATCTTTGCCCCTGAATTC	0.557																																						ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(3076-3078)gCc>gTc		catsper channel auxiliary subunit gamma							213	196	202					19																	38860668		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38860668C>T	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.3077C>T	19.37:g.38860668C>T	ENSP00000386962:p.Ala1026Val					CATSPERG_ENST00000410018.1_Missense_Mutation_p.A986V|CATSPERG_ENST00000215069.4_3'UTR	p.A1026V	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			27	3192	+			1026					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.3077C>T	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	C	15.59	2.880015	0.51801	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.25414	1.81;1.8	5.9	4.84	0.62591	.	0.978321	0.08349	N	0.959480	T	0.28433	0.0703	L	0.27053	0.805	0.80722	D	1	P;P	0.46142	0.873;0.873	P;P	0.47346	0.544;0.466	T	0.01212	-1.1417	10	0.52906	T	0.07	-16.265	12.8615	0.57915	0.0:0.8366:0.1634:0.0	.	1026;986	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	V	986;1026;1026	ENSP00000387057:A986V;ENSP00000386962:A1026V	ENSP00000386962:A1026V	A	+	2	0	CATSPERG	43552508	0.041000	0.20044	0.676000	0.29932	0.121000	0.20230	2.951000	0.49089	1.448000	0.47680	0.549000	0.68633	GCC		0.557	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		50	99	0	0	0	1	0	50	99					T	38860668	C	T	38860668	3	4	435	1	0	0	0	0	1	0	0	0	2692	739	26	3	3179	3	CATSPERG	19	38860668	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	147596	38860668	20268315	8256	29181											
RASGRP4	115727	broad.mit.edu	37	chr19	38912645	38912645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctccagcagctcatcttCgctgcagccgccctcactca	6	11	6	18	2	5	0	3	0	2	0	7	0	5	0	3	0	4	4	3	0	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38912645C>T	ENST00000587738.1	-	2	242	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	RASGRP4_ENST00000426920.2_Missense_Mutation_p.E58K|RASGRP4_ENST00000293062.9_Missense_Mutation_p.E58K|RASGRP4_ENST00000454404.2_Missense_Mutation_p.E58K|RASGRP4_ENST00000586305.1_Missense_Mutation_p.E58K|RASGRP4_ENST00000433821.2_Missense_Mutation_p.E58K|RASGRP4_ENST00000587753.1_Missense_Mutation_p.E58K			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	58	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGCTCATCTTCGCTGCAGCCG	0.622																																						ENST00000454404.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23						c.(172-174)Gaa>Aaa		RAS guanyl releasing protein 4							33	38	36					19																	38912645		2054	4203	6257	SO:0001583	missense	115727				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	g.chr19:38912645C>T	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"EF-hand domain containing"	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.172G>A	19.37:g.38912645C>T	ENSP00000465772:p.Glu58Lys					RASGRP4_ENST00000587753.1_Missense_Mutation_p.E58K|RASGRP4_ENST00000293062.9_Missense_Mutation_p.E58K|RASGRP4_ENST00000586305.1_Missense_Mutation_p.E58K|RASGRP4_ENST00000426920.2_Missense_Mutation_p.E58K|RASGRP4_ENST00000433821.2_Missense_Mutation_p.E58K|RASGRP4_ENST00000587738.1_Missense_Mutation_p.E58K	p.E58K	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		2	385	-	all_cancers(60;4.21e-06)		58			N-terminal Ras-GEF.		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	c.172G>A	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191564	0.58017	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.2	3.07	0.35406	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.314320	0.29396	N	0.012279	T	0.32793	0.0841	L	0.51422	1.61	0.35592	D	0.807124	P;P;D;P;D;P;P	0.63046	0.665;0.527;0.992;0.92;0.969;0.934;0.92	B;B;P;B;P;B;B	0.48901	0.107;0.107;0.594;0.212;0.49;0.236;0.212	T	0.46076	-0.9217	10	0.56958	D	0.05	-3.0435	10.0657	0.42301	0.0:0.6777:0.3223:0.0	.	58;58;58;58;58;58;58	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	K	58	ENSP00000411878:E58K;ENSP00000293062:E58K;ENSP00000445966:E58K;ENSP00000416463:E58K	ENSP00000293062:E58K	E	-	1	0	RASGRP4	43604485	0.153000	0.22777	0.974000	0.42286	0.894000	0.52154	1.802000	0.38853	2.354000	0.79902	0.563000	0.77884	GAA		0.622	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		7	11	0	0	0	1	0	7	11					T	38912645	C	T	38912645	3	4	435	1	0	0	0	0	1	0	0	0	13077	893	31	2	1913	2	RASGRP4	19	38912645	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	51977	38912645	20216338	8257	29182											
RYR1	6261	broad.mit.edu	37	chr19	38945986	38945986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtcctggaaagagattGtgaatcttctctatgaactc	11	12	9	9	1	2	3	0	2	2	1	5	6	3	4	2	1	1	0	2	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38945986G>A	ENST00000359596.3	+	14	1552	c.1552G>A	c.(1552-1554)Gtg>Atg	p.V518M	RYR1_ENST00000360985.3_Missense_Mutation_p.V518M|RYR1_ENST00000355481.4_Missense_Mutation_p.V518M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	518			V -> A (in MHS1; unknown pathological significance). {ECO:0000269|PubMed:23558838}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			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)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GAAAGAGATTGTGAATCTTCT	0.542																																						ENST00000355481.4																			0				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						c.(1552-1554)Gtg>Atg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						118	112	114					19																	38945986		2203	4300	6503	SO:0001583	missense	6261				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	g.chr19:38945986G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1552G>A	19.37:g.38945986G>A	ENSP00000352608:p.Val518Met					RYR1_ENST00000360985.3_Missense_Mutation_p.V518M|RYR1_ENST00000359596.3_Missense_Mutation_p.V518M	p.V518M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		14	1683	+	all_cancers(60;7.91e-06)		518					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.1552G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094788	0.36952	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.95853	-3.83;-3.83;-3.83	4.12	4.12	0.48240	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000014	D	0.96488	0.8854	L	0.56769	1.78	0.40077	D	0.976089	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.986	D	0.95780	0.8816	10	0.38643	T	0.18	.	12.4749	0.55807	0.0:0.0:0.8323:0.1677	.	518;518	P21817-2;P21817	.;RYR1_HUMAN	M	518	ENSP00000352608:V518M;ENSP00000347667:V518M;ENSP00000354254:V518M	ENSP00000347667:V518M	V	+	1	0	RYR1	43637826	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	2.538000	0.45710	2.127000	0.65507	0.407000	0.27541	GTG		0.542	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			24	38	0	0	0	1	0	24	38					A	38945986	G	A	38945986	3	1	435	1	0	0	0	0	1	0	0	0	13768	1377	48	3	1606	3	RYR1	19	38945986	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33341	38945986	20182997	8258	29183											
RYR1	6261	broad.mit.edu	37	chr19	38976522	38976522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcacgcctgagacccgcGccatcacgctcttccctcct	5	8	6	22	4	3	1	2	1	1	1	5	2	5	1	6	0	0	1	6	0	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38976522G>A	ENST00000359596.3	+	34	5227	c.5227G>A	c.(5227-5229)Gcc>Acc	p.A1743T	RYR1_ENST00000360985.3_Missense_Mutation_p.A1743T|RYR1_ENST00000355481.4_Missense_Mutation_p.A1743T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1743	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			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)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGAGACCCGCGCCATCACGCT	0.622																																						ENST00000355481.4																			0				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						c.(5227-5229)Gcc>Acc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						64	62	63					19																	38976522		2203	4300	6503	SO:0001583	missense	6261				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	g.chr19:38976522G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5227G>A	19.37:g.38976522G>A	ENSP00000352608:p.Ala1743Thr					RYR1_ENST00000360985.3_Missense_Mutation_p.A1743T|RYR1_ENST00000359596.3_Missense_Mutation_p.A1743T	p.A1743T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5358	+	all_cancers(60;7.91e-06)		1743			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5227G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297479	0.40694	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.72615	-0.67;-0.67;-0.67	3.77	1.49	0.22878	.	0.137822	0.45126	U	0.000388	T	0.41581	0.1165	N	0.14661	0.345	0.29121	N	0.880273	B;B	0.33940	0.433;0.274	B;B	0.26614	0.071;0.056	T	0.23368	-1.0190	10	0.19590	T	0.45	.	4.2144	0.10528	0.5402:0.0:0.4598:0.0	.	1743;1743	P21817-2;P21817	.;RYR1_HUMAN	T	1743	ENSP00000352608:A1743T;ENSP00000347667:A1743T;ENSP00000354254:A1743T	ENSP00000347667:A1743T	A	+	1	0	RYR1	43668362	0.108000	0.22018	1.000000	0.80357	0.613000	0.37349	0.876000	0.28092	0.796000	0.33947	-0.225000	0.12378	GCC		0.622	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			20	33	0	0	0	1	0	20	33					A	38976522	G	A	38976522	3	1	435	1	0	0	0	0	1	0	0	0	13768	1087	38	1	5361	1	RYR1	19	38976522	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	30536	38976522	20152461	8259	29184											
RYR1	6261	broad.mit.edu	37	chr19	39052042	39052042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtcacgccgcatcgagcGcatctacttcgagatctcag	8	8	10	15	7	3	1	2	0	2	1	6	3	3	1	1	0	2	2	1	0	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39052042G>A	ENST00000359596.3	+	90	12572	c.12572G>A	c.(12571-12573)cGc>cAc	p.R4191H	RYR1_ENST00000360985.3_Missense_Mutation_p.R4186H|RYR1_ENST00000355481.4_Missense_Mutation_p.R4186H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4191					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			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)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGCATCGAGCGCATCTACTTC	0.657																																						ENST00000355481.4																			0				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						c.(12556-12558)cGc>cAc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						71	55	61					19																	39052042		2203	4300	6503	SO:0001583	missense	6261				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	g.chr19:39052042G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12572G>A	19.37:g.39052042G>A	ENSP00000352608:p.Arg4191His					RYR1_ENST00000360985.3_Missense_Mutation_p.R4186H|RYR1_ENST00000359596.3_Missense_Mutation_p.R4191H	p.R4186H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		89	12688	+	all_cancers(60;7.91e-06)		4191					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.12557G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895501	0.52121	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98207	-4.79;-4.79;-4.79	3.43	3.43	0.39272	.	0.000000	0.64402	U	0.000010	D	0.99001	0.9659	M	0.90198	3.095	0.53688	D	0.999972	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.987	D	0.99229	1.0881	10	0.87932	D	0	.	15.0702	0.72030	0.0:0.0:1.0:0.0	.	4186;4186;4191	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	H	4191;4186;4186	ENSP00000352608:R4191H;ENSP00000347667:R4186H;ENSP00000354254:R4186H	ENSP00000347667:R4186H	R	+	2	0	RYR1	43743882	1.000000	0.71417	0.936000	0.37596	0.931000	0.56810	9.549000	0.98106	1.963000	0.57068	0.298000	0.19748	CGC		0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			15	19	0	0	0	1	0	15	19					A	39052042	G	A	39052042	3	1	435	1	0	0	0	0	1	0	0	0	13768	1087	38	1	12930	1	RYR1	19	39052042	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	75520	39052042	20076941	8260	29185											
MAP4K1	11184	broad.mit.edu	37	chr19	39096286	39096286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggtgggggcccactggCacaccggaccagcacccccg	6	5	14	16	2	0	0	0	0	0	0	0	1	0	1	5	5	1	3	5	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39096286C>T	ENST00000591517.1	-	18	1313	c.1285G>A	c.(1285-1287)Gcc>Acc	p.A429T	MAP4K1_ENST00000396857.2_Missense_Mutation_p.A429T|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000423454.2_Missense_Mutation_p.A91T|MAP4K1_ENST00000589130.1_Missense_Mutation_p.A425T|MAP4K1_ENST00000589002.1_5'Flank	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	429					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCCCACTGGCACACCGGACC	0.662																																						ENST00000591517.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(1285-1287)Gcc>Acc		mitogen-activated protein kinase kinase kinase kinase 1							9	10	10					19																	39096286		1914	4090	6004	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39096286C>T	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1285G>A	19.37:g.39096286C>T	ENSP00000465039:p.Ala429Thr					MAP4K1_ENST00000589130.1_Missense_Mutation_p.A425T|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000423454.2_Missense_Mutation_p.A91T|MAP4K1_ENST00000396857.2_Missense_Mutation_p.A429T	p.A429T	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		18	1313	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		429						Missense_Mutation	SNP	ENST00000591517.1	37	c.1285G>A	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	15.32	2.797356	0.50208	.	.	ENSG00000104814	ENST00000396857;ENST00000221409;ENST00000423454	T;T	0.24538	1.85;2.87	5.21	2.78	0.32641	.	1.080200	0.07164	N	0.851206	T	0.18257	0.0438	N	0.24115	0.695	0.26205	N	0.979383	D;P;P	0.53151	0.958;0.775;0.666	B;B;B	0.41894	0.369;0.225;0.112	T	0.07121	-1.0789	10	0.14252	T	0.57	.	11.5572	0.50755	0.3917:0.6083:0.0:0.0	.	91;429;429	B4E087;Q92918-2;Q92918	.;.;M4K1_HUMAN	T	429;429;91	ENSP00000380066:A429T;ENSP00000396383:A91T	ENSP00000221409:A429T	A	-	1	0	MAP4K1	43788126	0.992000	0.36948	1.000000	0.80357	0.939000	0.58152	0.164000	0.16542	1.133000	0.42147	0.462000	0.41574	GCC		0.662	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		12	6	0	0	0	1	0	12	6					T	39096286	C	T	39096286	3	4	435	1	0	0	0	0	1	0	0	0	9259	710	25	3	1338	3	MAP4K1	19	39096286	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44244	39096286	20032697	8261	29186											
ACTN4	81	broad.mit.edu	37	chr19	39191247	39191247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttccccagaccttcaCggcatggtgcaactcccacc	7	9	7	18	1	2	1	1	0	1	1	4	1	4	1	5	2	3	3	5	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39191247C>T	ENST00000252699.2	+	2	246	c.170C>T	c.(169-171)aCg>aTg	p.T57M	ACTN4_ENST00000424234.2_Missense_Mutation_p.T57M|ACTN4_ENST00000390009.3_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	57	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGACCTTCACGGCATGGTGC	0.607																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(169-171)aCg>aTg		actinin, alpha 4							115	93	101					19																	39191247		2203	4300	6503	SO:0001583	missense	81				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	g.chr19:39191247C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.170C>T	19.37:g.39191247C>T	ENSP00000252699:p.Thr57Met					ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Missense_Mutation_p.T57M	p.T57M	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		2	246	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		57			Actin-binding.|CH 1.		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.170C>T	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954600	0.73902	.	.	ENSG00000130402	ENST00000252699;ENST00000445727;ENST00000424234	D;D	0.95001	-3.58;-3.58	4.35	4.35	0.52113	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98046	0.9356	H	0.95745	3.715	0.43919	D	0.996564	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.99184	1.0868	10	0.87932	D	0	.	16.1499	0.81605	0.0:1.0:0.0:0.0	.	57;57	E7EV83;O43707	.;ACTN4_HUMAN	M	57	ENSP00000252699:T57M;ENSP00000411187:T57M	ENSP00000252699:T57M	T	+	2	0	ACTN4	43883087	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	7.566000	0.82347	2.426000	0.82243	0.561000	0.74099	ACG		0.607	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			15	26	0	0	0	1	0	15	26					T	39191247	C	T	39191247	3	4	435	1	0	0	0	0	1	0	0	0	207	536	19	1	176	1	ACTN4	19	39191247	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	94961	39191247	19937736	8262	29187											
ACTN4	81	broad.mit.edu	37	chr19	39207768	39207768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcccctggctggaggacCgtgtgccccaaaagactatc	9	7	10	15	1	0	1	0	0	0	1	2	3	1	3	6	3	1	1	6	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39207768C>T	ENST00000252699.2	+	10	1031	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Missense_Mutation_p.R100C	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	319					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCTGGAGGACCGTGTGCCCCA	0.642																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(955-957)Cgt>Tgt		actinin, alpha 4							67	54	58					19																	39207768		2203	4300	6503	SO:0001583	missense	81				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	g.chr19:39207768C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.955C>T	19.37:g.39207768C>T	ENSP00000252699:p.Arg319Cys					ACTN4_ENST00000390009.3_Missense_Mutation_p.R100C|ACTN4_ENST00000424234.2_Intron	p.R319C	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		10	1031	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		319					A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.955C>T	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001870	0.93227	.	.	ENSG00000130402	ENST00000252699;ENST00000445727;ENST00000390009	T;T	0.52295	0.67;0.67	4.32	4.32	0.51571	.	0.148719	0.45867	D	0.000335	T	0.76758	0.4032	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	D	0.84449	0.0587	10	0.87932	D	0	.	16.088	0.81070	0.0:1.0:0.0:0.0	.	319;319	E7EV83;O43707	.;ACTN4_HUMAN	C	319;319;100	ENSP00000252699:R319C;ENSP00000439497:R100C	ENSP00000252699:R319C	R	+	1	0	ACTN4	43899608	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.854000	0.69503	2.399000	0.81585	0.561000	0.74099	CGT		0.642	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			5	8	0	0	0	1	0	5	8					T	39207768	C	T	39207768	3	4	435	1	0	0	0	0	1	0	0	0	207	652	23	2	993	2	ACTN4	19	39207768	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16521	39207768	19921215	8263	29188											
ACTN4	81	broad.mit.edu	37	chr19	39218657	39218657	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggctacgacgtggagaaCgaccggcaggtactgcaccc	9	5	14	13	4	0	1	0	0	0	1	0	4	0	1	2	4	4	4	2	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39218657C>T	ENST00000252699.2	+	19	2485	c.2409C>T	c.(2407-2409)aaC>aaT	p.N803N	ACTN4_ENST00000424234.2_Silent_p.N413N|ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Silent_p.N584N	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	803	Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACGTGGAGAACGACCGGCAGG	0.652																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(2407-2409)aaC>aaT		actinin, alpha 4							43	37	39					19																	39218657		2202	4300	6502	SO:0001819	synonymous_variant	81				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	g.chr19:39218657C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2409C>T	19.37:g.39218657C>T						ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Silent_p.N584N|ACTN4_ENST00000424234.2_Silent_p.N413N	p.N803N	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		19	2485	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		803					A4K467|D6PXK4|O76048	Silent	SNP	ENST00000252699.2	37	c.2409C>T	CCDS12518.1																																																																																				0.652	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			8	12	0	0	0	1	0	8	12					T	39218657	C	T	39218657	2	4	435	1	0	0	0	0	0	0	0	1	207	535	19	1		1	ACTN4	19	39218657	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10889	39218657	19910326	8264	29189											
ACTN4	81	broad.mit.edu	37	chr19	39220008	39220008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccataccagggccctgacgCcgtgcccggtgccctcgact	5	6	12	18	4	0	1	0	1	0	0	1	2	0	1	6	2	3	0	6	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39220008C>T	ENST00000252699.2	+	21	2748	c.2672C>T	c.(2671-2673)gCc>gTc	p.A891V	ACTN4_ENST00000424234.2_Missense_Mutation_p.A501V|ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Missense_Mutation_p.A672V	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	891	Mediates interaction with MICALL2. {ECO:0000250}.			AVP -> GVR (in Ref. 3; AAC17470). {ECO:0000305}.	actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCCCTGACGCCGTGCCCGGT	0.667																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(2671-2673)gCc>gTc		actinin, alpha 4							38	40	39					19																	39220008		2202	4299	6501	SO:0001583	missense	81				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	g.chr19:39220008C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2672C>T	19.37:g.39220008C>T	ENSP00000252699:p.Ala891Val					ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Missense_Mutation_p.A672V|ACTN4_ENST00000424234.2_Missense_Mutation_p.A501V	p.A891V	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		21	2748	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		891	AVP -> GVR (in Ref. 3; AAC17470).				A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.2672C>T	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767730	0.31320	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.63417	0.88;-0.04;-0.04;-0.04	3.48	3.48	0.39840	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.074160	0.52532	D	0.000068	T	0.59998	0.2235	M	0.63843	1.955	0.52099	D	0.999945	B	0.02656	0.0	B	0.18263	0.021	T	0.64732	-0.6338	10	0.66056	D	0.02	.	14.2674	0.66129	0.0:1.0:0.0:0.0	.	891	O43707	ACTN4_HUMAN	V	891;501;672;322	ENSP00000252699:A891V;ENSP00000411187:A501V;ENSP00000439497:A672V;ENSP00000398393:A322V	ENSP00000252699:A891V	A	+	2	0	ACTN4	43911848	0.998000	0.40836	0.041000	0.18516	0.020000	0.10135	3.657000	0.54474	1.959000	0.56917	0.455000	0.32223	GCC		0.667	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			11	17	0	0	0	1	0	11	17					T	39220008	C	T	39220008	3	4	435	1	0	0	0	0	1	0	0	0	207	739	26	3	2754	3	ACTN4	19	39220008	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1351	39220008	19908975	8265	29190											
LGALS7B	653499	broad.mit.edu	37	chr19	39281406	39281406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacccccggctggacacgtCggaggtggtcttcaacagca	9	6	12	14	3	2	0	1	0	1	0	3	2	2	2	2	5	3	2	2	5	2	1	rs548125638	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39281406C>T	ENST00000314980.4	+	3	189	c.173C>T	c.(172-174)tCg>tTg	p.S58L		NM_001042507.3	NP_001035972.1	P47929	LEG7_HUMAN	lectin, galactoside-binding, soluble, 7B	58	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|heterophilic cell-cell adhesion (GO:0007157)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carbohydrate binding (GO:0030246)	p.S58L(1)									CTGGACACGTCGGAGGTGGTC	0.672																																						ENST00000314980.4																			1	Substitution - Missense(1)	p.S58L(1)	large_intestine(1)								c.(172-174)tCg>tTg		lectin, galactoside-binding, soluble, 7B							27	30	29					19																	39281406		2201	4296	6497	SO:0001583	missense	653499				apoptosis|heterophilic cell-cell adhesion	cytoplasm|extracellular space|nucleus	sugar binding	g.chr19:39281406C>T		CCDS42565.1	19q13.2	2011-08-04			ENSG00000178934	ENSG00000178934		"Lectins, galactoside-binding"	34447	protein-coding gene	gene with protein product	"galectin 7B"						Standard	NM_001042507		Approved	GAL7	uc002ojf.4	P47929		ENST00000314980.4:c.173C>T	19.37:g.39281406C>T	ENSP00000313571:p.Ser58Leu						p.S58L	NM_001042507.3	NP_001035972.1	P47929	LEG7_HUMAN			3	189	+			58			Galectin.		Q6IB87	Missense_Mutation	SNP	ENST00000314980.4	37	c.173C>T	CCDS42565.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284120	0.59867	.	.	ENSG00000178934	ENST00000314980	T	0.18657	2.2	4.07	-1.81	0.07882	.	0.950501	0.08674	N	0.910450	T	0.21550	0.0519	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.42103	-0.9471	7	0.62326	D	0.03	-26.194	7.4277	0.27109	0.2865:0.2482:0.4653:0.0	.	.	.	.	L	58	ENSP00000313571:S58L	ENSP00000313571:S58L	S	+	2	0	LGALS7B	43973246	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.288000	0.18939	-0.005000	0.14395	-0.182000	0.12963	TCG		0.672	LGALS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462638.1			7	32	0	0	0	1	0	7	32					T	39281406	C	T	39281406	3	4	435	1	0	0	0	0	1	0	0	0	8746	893	31	2	183	2	LGALS7B	19	39281406	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	61398	39281406	19847577	8266	29191											
LGALS4	3960	broad.mit.edu	37	chr19	39299546	39299546	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattgaagtggaaggcgacGtctgagcccggatcctgccc	8	7	15	11	3	1	2	0	2	1	0	2	6	2	5	3	4	2	0	3	4	2	1	rs148221331	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39299546G>A	ENST00000307751.4	-	3	654	c.177C>T	c.(175-177)gaC>gaT	p.D59D	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	59	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGAAGGCGACGTCTGAGCCCG	0.632													G|||	2	0.000399361	0	0	5008	,	,		15633	0		0.002	False		,,,				2504	0					ENST00000307751.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(175-177)gaC>gaT		lectin, galactoside-binding, soluble, 4							89	71	77					19																	39299546		2203	4300	6503	SO:0001819	synonymous_variant	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39299546G>A		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"Lectins, galactoside-binding"	6565	protein-coding gene	gene with protein product	"galectin 4"	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.177C>T	19.37:g.39299546G>A						LGALS4_ENST00000597803.1_Intron	p.D59D	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		3	654	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		59			Galectin 1.			Silent	SNP	ENST00000307751.4	37	c.177C>T	CCDS12521.1																																																																																				0.632	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		8	12	0	0	0	1	0	8	12					A	39299546	G	A	39299546	2	1	435	1	0	0	0	0	0	0	0	1	8745	1136	40	1		1	LGALS4	19	39299546	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18140	39299546	19829437	8267	29192											
LGALS4	3960	broad.mit.edu	37	chr19	39303130	39303130	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattcccacgttgagcccGcccgggatgggctggtagta	7	8	14	12	3	0	1	0	1	0	0	1	3	1	2	3	3	1	4	3	3	2	4	rs201486930		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39303130G>A	ENST00000307751.4	-	2	552	c.75C>T	c.(73-75)ggC>ggT	p.G25G	LGALS4_ENST00000597803.1_5'UTR	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	25	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CGTTGAGCCCGCCCGGGATGG	0.607													G|||	1	0.000199681	0	0.0014	5008	,	,		18084	0		0	False		,,,				2504	0					ENST00000307751.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(73-75)ggC>ggT		lectin, galactoside-binding, soluble, 4							68	62	64					19																	39303130		2203	4300	6503	SO:0001819	synonymous_variant	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39303130G>A		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"Lectins, galactoside-binding"	6565	protein-coding gene	gene with protein product	"galectin 4"	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.75C>T	19.37:g.39303130G>A						LGALS4_ENST00000597803.1_5'UTR	p.G25G	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		2	552	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		25			Galectin 1.			Silent	SNP	ENST00000307751.4	37	c.75C>T	CCDS12521.1																																																																																				0.607	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		9	19	0	0	0	1	0	9	19					A	39303130	G	A	39303130	2	1	435	1	0	0	0	0	0	0	0	1	8745	1074	38	1		1	LGALS4	19	39303130	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3584	39303130	19825853	8268	29193											
ECH1	1891	broad.mit.edu	37	chr19	39308102	39308102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagtcaccctctcgatgaCgttgaaggtctcctggtatc	8	12	10	11	2	3	3	1	2	2	1	6	4	3	3	2	2	0	2	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39308102C>T	ENST00000221418.4	-	4	695	c.463G>A	c.(463-465)Gtc>Atc	p.V155I	AC104534.2_ENST00000594558.1_RNA	NM_001398.2	NP_001389.2	Q13011	ECH1_HUMAN	enoyl CoA hydratase 1, peroxisomal	155					fatty acid beta-oxidation (GO:0006635)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	isomerase activity (GO:0016853)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CTCTCGATGACGTTGAAGGTC	0.592																																						ENST00000221418.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6						c.(463-465)Gtc>Atc		enoyl CoA hydratase 1, peroxisomal							80	70	73					19																	39308102		2203	4300	6503	SO:0001583	missense	1891							g.chr19:39308102C>T	U16660	CCDS33014.1	19q13.1	2010-04-30	2010-04-30			ENSG00000104823			3149	protein-coding gene	gene with protein product		600696	"enoyl Coenzyme A hydratase 1, peroxisomal"			7558027	Standard	XM_005258610		Approved	HPXEL		Q13011		ENST00000221418.4:c.463G>A	19.37:g.39308102C>T	ENSP00000221418:p.Val155Ile						p.V155I	NM_001398.2	NP_001389.2			Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		4	695	-	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)							A8K745|Q8WVX0|Q96EZ9	Missense_Mutation	SNP	ENST00000221418.4	37	c.463G>A	CCDS33014.1	.	.	.	.	.	.	.	.	.	.	c	11.45	1.642272	0.29246	.	.	ENSG00000104823	ENST00000221418	T	0.67171	-0.25	5.04	2.86	0.33363	Crotonase, core (1);	0.000000	0.64402	D	0.000001	T	0.54951	0.1890	L	0.52905	1.665	0.58432	D	0.999998	P;B	0.36577	0.558;0.086	B;B	0.26969	0.026;0.075	T	0.54596	-0.8270	10	0.46703	T	0.11	.	11.0063	0.47635	0.0:0.8417:0.0:0.1583	.	155;155	B4DVS4;Q13011	.;ECH1_HUMAN	I	155	ENSP00000221418:V155I	ENSP00000221418:V155I	V	-	1	0	ECH1	43999942	1.000000	0.71417	0.573000	0.28510	0.058000	0.15608	5.124000	0.64709	0.627000	0.30340	0.491000	0.48974	GTC		0.592	ECH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462650.1			4	13	0	0	0	1	0	4	13					T	39308102	C	T	39308102	3	4	435	1	0	0	0	0	1	0	0	0	4892	536	19	1	551	1	ECH1	19	39308102	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4972	39308102	19820881	8269	29194											
NFKBIB	4793	broad.mit.edu	37	chr19	39398152	39398152	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcccgcatgtacggtggCcgcaccccactcggcagtgc	5	6	13	17	4	0	0	0	0	0	0	1	0	0	0	4	3	3	5	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39398152C>T	ENST00000313582.5	+	5	856	c.822C>T	c.(820-822)ggC>ggT	p.G274G	NFKBIB_ENST00000572515.1_Silent_p.G274G|NFKBIB_ENST00000392079.3_Silent_p.G242G	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	274					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TGTACGGTGGCCGCACCCCAC	0.697																																					Pancreas(165;1492 2005 6979 7739 34483)	ENST00000392079.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(724-726)ggC>ggT		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta							31	32	32					19																	39398152		2199	4296	6495	SO:0001819	synonymous_variant	4793				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	g.chr19:39398152C>T	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"Ankyrin repeat domain containing"	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.822C>T	19.37:g.39398152C>T						NFKBIB_ENST00000313582.5_Silent_p.G274G|NFKBIB_ENST00000572515.1_Silent_p.G274G	p.G242G			Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		5	824	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		274					A8K3F4|Q96BJ7	Silent	SNP	ENST00000313582.5	37	c.726C>T	CCDS12524.1																																																																																				0.697	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503		15	26	0	0	0	1	0	15	26					T	39398152	C	T	39398152	2	4	435	1	0	0	0	0	0	0	0	1	10378	726	26	3		3	NFKBIB	19	39398152	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	90050	39398152	19730831	8270	29195											
NFKBIB	4793	broad.mit.edu	37	chr19	39399383	39399383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccccaggatgaatacgacGacattgtggttcacagcagc	11	7	11	12	2	1	1	1	1	0	0	1	4	1	2	2	2	3	2	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39399383G>A	ENST00000313582.5	+	6	1016	c.982G>A	c.(982-984)Gac>Aac	p.D328N	NFKBIB_ENST00000392079.3_3'UTR	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	328					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TGAATACGACGACATTGTGGT	0.587																																					Pancreas(165;1492 2005 6979 7739 34483)	ENST00000313582.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(982-984)Gac>Aac		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta							81	86	85					19																	39399383		2203	4300	6503	SO:0001583	missense	4793				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	g.chr19:39399383G>A	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"Ankyrin repeat domain containing"	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.982G>A	19.37:g.39399383G>A	ENSP00000312988:p.Asp328Asn					NFKBIB_ENST00000392079.3_3'UTR	p.D328N	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		6	1016	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		328					A8K3F4|Q96BJ7	Missense_Mutation	SNP	ENST00000313582.5	37	c.982G>A	CCDS12524.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631094	0.87660	.	.	ENSG00000104825	ENST00000313582	T	0.57107	0.42	5.08	5.08	0.68730	.	0.000000	0.51477	D	0.000088	T	0.55970	0.1954	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.47407	-0.9120	10	0.18710	T	0.47	-10.5432	13.836	0.63410	0.0:0.0:1.0:0.0	.	328	Q15653	IKBB_HUMAN	N	328	ENSP00000312988:D328N	ENSP00000312988:D328N	D	+	1	0	NFKBIB	44091223	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	4.873000	0.63057	2.630000	0.89119	0.655000	0.94253	GAC		0.587	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503		11	28	0	0	0	1	0	11	28					A	39399383	G	A	39399383	3	1	435	1	0	0	0	0	1	0	0	0	10378	1058	37	2	1052	2	NFKBIB	19	39399383	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1231	39399383	19729600	8271	29196											
FBXO27	126433	broad.mit.edu	37	chr19	39521716	39521716	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccactatccagcagttctggCcacagaccctcctcctctag	8	9	6	18	0	2	1	0	0	2	1	5	1	5	1	6	1	1	2	6	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39521716C>T	ENST00000292853.4	-	4	644	c.525G>A	c.(523-525)tgG>tgA	p.W175*	FBXO27_ENST00000600828.1_Nonsense_Mutation_p.W174*|FBXO27_ENST00000509137.2_Nonsense_Mutation_p.W175*|CTB-189B5.3_ENST00000597303.1_RNA	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	175	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCAGTTCTGGCCACAGACCCT	0.507																																						ENST00000292853.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17						c.(523-525)tgG>tgA		F-box protein 27							183	162	169					19																	39521716		2203	4300	6503	SO:0001587	stop_gained	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39521716C>T	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"F-boxes /  "other""	18753	protein-coding gene	gene with protein product		609099	"F-box only protein 27"			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.525G>A	19.37:g.39521716C>T	ENSP00000292853:p.Trp175*					CTB-189B5.3_ENST00000597303.1_RNA|FBXO27_ENST00000509137.2_Nonsense_Mutation_p.W175*|FBXO27_ENST00000600828.1_Nonsense_Mutation_p.W174*	p.W175*	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		4	644	-	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)		175			FBA.		Q96C87	Nonsense_Mutation	SNP	ENST00000292853.4	37	c.525G>A	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	C	36	5.692157	0.96793	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	.	.	.	3.99	2.95	0.34219	.	0.291586	0.24511	N	0.037900	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-8.4167	7.6111	0.28131	0.0:0.8813:0.0:0.1187	.	.	.	.	X	175	.	ENSP00000292853:W175X	W	-	3	0	FBXO27	44213556	1.000000	0.71417	0.405000	0.26409	0.985000	0.73830	2.330000	0.43885	1.033000	0.39918	0.479000	0.44913	TGG		0.507	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			21	99	0	0	0	1	0	21	99					T	39521716	C	T	39521716	4	4	435	1	0	0	0	0	0	1	0	0	5737	740	26	3	338	3	FBXO27	19	39521716	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	122333	39521716	19607267	8272	29197											
IL28A	282616	broad.mit.edu	37	chr19	39759403	39759403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtcgccaggctccacGgggctctcccggatgcaagg	5	8	13	15	3	1	0	0	0	1	0	5	1	3	1	4	5	1	3	4	5	1	1	rs368918145		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39759403G>A	ENST00000331982.5	+	2	152	c.97G>A	c.(97-99)Ggg>Agg	p.G33R		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	33					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CAGGCTCCACGGGGCTCTCCC	0.607																																						ENST00000331982.5																			0											c.(97-99)Ggg>Agg		interferon, lambda 2		G	ARG/GLY	0,4406		0,0,2203	48	51	50		97	-6.2	0	19		50	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL28A	NM_172138.1	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	33/201	39759403	1,13005	2203	4300	6503	SO:0001583	missense	282616							g.chr19:39759403G>A	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"Interferons"	18364	protein-coding gene	gene with protein product		607401	"interleukin 28A", "interleukin 28A (interferon, lambda 2)"	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.97G>A	19.37:g.39759403G>A	ENSP00000333639:p.Gly33Arg						p.G33R	NM_172138.1	NP_742150.1					2	152	+								Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP	ENST00000331982.5	37	c.97G>A	CCDS42567.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.580794	0.00879	0.0	1.16E-4	ENSG00000183709	ENST00000331982	T	0.12147	2.71	3.08	-6.15	0.02105	.	1.126930	0.06660	N	0.764322	T	0.04634	0.0126	N	0.05383	-0.06	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.41858	-0.9485	10	0.06236	T	0.91	-0.0017	6.5448	0.22400	0.3088:0.1522:0.539:0.0	.	33	Q8IZJ0	IL28A_HUMAN	R	33	ENSP00000333639:G33R	ENSP00000333639:G33R	G	+	1	0	IL28A	44451243	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-3.363000	0.00497	-1.497000	0.01826	-1.112000	0.02068	GGG		0.607	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1	NM_172138		14	16	0	0	0	1	0	14	16					A	39759403	G	A	39759403	3	1	435	1	0	0	0	0	1	0	0	0	7682	1116	39	2	103	2	IL28A	19	39759403	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	237687	39759403	19369580	8273	29198											
GMFG	9535	broad.mit.edu	37	chr19	39823717	39823717	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcttcccccaggatacCtgggctgtctctccggcaac	5	11	8	17	1	2	0	0	0	2	0	5	1	4	1	5	3	2	2	5	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39823717C>A	ENST00000597595.1	-	4	408	c.200G>T	c.(199-201)aGg>aTg	p.R67M	GMFG_ENST00000601387.1_Splice_Site_p.R26M|GMFG_ENST00000598034.1_Splice_Site_p.R67M|GMFG_ENST00000595636.1_Splice_Site_p.R67M|GMFG_ENST00000600322.1_Splice_Site_p.R34M|GMFG_ENST00000602185.1_Splice_Site_p.R18M|GMFG_ENST00000253054.8_Splice_Site_p.R34M|GMFG_ENST00000594700.1_Intron	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma	67	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)			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)			CCCAGGATACCTGGGCTGTCT	0.532																																						ENST00000598034.1																			0				breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10						c.e4+1		glia maturation factor, gamma							92	86	88					19																	39823717		2203	4300	6503	SO:0001630	splice_region_variant	9535				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity	g.chr19:39823717C>A	AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.200+1G>T	19.37:g.39823717C>A						GMFG_ENST00000594700.1_Intron|GMFG_ENST00000600322.1_Splice_Site_p.R34_splice|GMFG_ENST00000595636.1_Splice_Site_p.R67_splice|GMFG_ENST00000597595.1_Splice_Site_p.R67_splice|GMFG_ENST00000602185.1_Splice_Site_p.R18_splice|GMFG_ENST00000253054.8_Splice_Site_p.R34_splice|GMFG_ENST00000601387.1_Splice_Site_p.R26_splice	p.R67_splice			O60234	GMFG_HUMAN	Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		4	229	-	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)		67			ADF-H.		Q6IB37	Splice_Site	SNP	ENST00000597595.1	37	c.200_splice	CCDS12532.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202440	0.79127	.	.	ENSG00000130755	ENST00000253054	.	.	.	3.75	3.75	0.43078	Actin-binding, cofilin/tropomyosin type (3);	0.084158	0.42172	D	0.000743	D	0.84933	0.5582	H	0.94698	3.57	0.58432	D	0.999994	D;D	0.89917	0.996;1.0	D;D	0.97110	0.944;1.0	D	0.88153	0.2852	8	.	.	.	-11.9604	11.2937	0.49265	0.0:1.0:0.0:0.0	.	67;67	O60234;Q6IB37	GMFG_HUMAN;.	M	67	.	.	R	-	2	0	GMFG	44515557	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.219000	0.72231	2.096000	0.63516	0.632000	0.83419	AGG		0.532	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463839.1		Missense_Mutation	21	35	1	0	1.2644e-06	1	1.31806e-06	21	35					A	39823717	C	A	39823717	5	1	435	1	0	0	0	0	0	0	1	0	6490	695	24	5	244	5	GMFG	19	39823717	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	64314	39823717	19305266	8274	29199											
PAF1	55095	broad.mit.edu	37	chr19	39876748	39876748	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgctgcggctgtggctccgGctccgctggccacccccatt	2	8	13	18	4	0	0	0	0	0	0	2	0	2	0	5	4	1	5	5	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39876748G>A	ENST00000314471.6	+	0	4519				PAF1_ENST00000595564.1_Missense_Mutation_p.A422V|PAF1_ENST00000221266.7_Missense_Mutation_p.A399V|PAF1_ENST00000221265.3_Silent_p.S493S	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			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)			TGTGGCTCCGGCTCCGCTGGC	0.627																																						ENST00000595564.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17						c.(1264-1266)gCc>gTc		Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)							73	69	70					19																	39876748		2203	4300	6503	SO:0001628	intergenic_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39876748G>A		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9			19.37:g.39876748G>A						PAF1_ENST00000221266.7_Missense_Mutation_p.A399V|PAF1_ENST00000221265.3_Silent_p.S493S	p.A422V	NM_001256826.1	NP_001243755.1	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		13	1554	-	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)		0			Glu-rich.		A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.1265C>T	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	g	9.381	1.073039	0.20147	.	.	ENSG00000006712	ENST00000221266	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	T	0.59662	0.2210	.	.	.	0.80722	D	1	B	0.32829	0.386	B	0.36666	0.23	T	0.66221	-0.5978	7	0.87932	D	0	-20.1293	14.2595	0.66076	0.0:0.0:1.0:0.0	.	399	F8W9Q2	.	V	399	.	ENSP00000221266:A399V	A	-	2	0	PAF1	44568588	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	2.601000	0.46249	2.303000	0.77524	0.503000	0.49774	GCC		0.627	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		5	60	0	0	0	1	0	5	60					A	39876748	G	A	39876748	1	1	435	0	1	0	0	0	0	0	0	0	11383	1194	42	3		3	PAF1	19	39876748	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	53031	39876748	19252235	8275	29200											
PAF1	55588	broad.mit.edu	37	chr19	39879256	39879256	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccgctttcgtttcttcaaCgtctcttctacaggcaggaa	7	14	7	13	3	4	0	1	0	3	0	7	1	5	1	1	2	2	3	1	2	3	5	rs143167089	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39879256C>T	ENST00000599213.2	+	0	0				MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000595564.1_Silent_p.T257T|PAF1_ENST00000221266.7_Silent_p.T234T|PAF1_ENST00000221265.3_Silent_p.T267T|MED29_ENST00000315588.5_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GTTTCTTCAACGTCTCTTCTA	0.512																																						ENST00000221265.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17						c.(799-801)acG>acA		Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)		C		3,4403	6.2+/-15.9	0,3,2200	132	123	126		801	-10	0	19	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	PAF1	NM_019088.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		267/532	39879256	3,13003	2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39879256C>T	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39879256C>T	Exception_encountered					PAF1_ENST00000595564.1_Silent_p.T257T|PAF1_ENST00000221266.7_Silent_p.T234T	p.T267T	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		10	1131	-	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)		267					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Silent	SNP	ENST00000599213.2	37	c.801G>A																																																																																					0.512	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		13	61	0	0	0	1	0	13	61					T	39879256	C	T	39879256	1	4	435	0	1	0	0	0	0	0	0	0	11383	523	19	1		1	PAF1	19	39879256	5'Flank	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2508	39879256	19249727	8276	29201											
PLEKHG2	64857	broad.mit.edu	37	chr19	39911459	39911459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtctcctcgacctcgagatGctagaagttttacccctggg	7	11	11	12	2	1	2	0	0	1	2	4	4	1	2	4	2	2	2	4	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39911459G>A	ENST00000409794.3	+	13	2216	c.1366G>A	c.(1366-1368)Gct>Act	p.A456T	PLEKHG2_ENST00000378550.1_Missense_Mutation_p.A456T|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.A397T|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.A456T|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.A456T	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	456					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCTCGAGATGCTAGAAGTTT	0.602																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1366-1368)Gct>Act		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							67	73	71					19																	39911459		2203	4300	6503	SO:0001583	missense	64857				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	g.chr19:39911459G>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1366G>A	19.37:g.39911459G>A	ENSP00000386733:p.Ala456Thr					PLEKHG2_ENST00000378550.1_Missense_Mutation_p.A456T|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.A456T|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.A456T|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.A397T	p.A456T			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		13	1691	+	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)		456					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.1366G>A	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.84|15.84	2.952182|2.952182	0.53293|0.53293	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797|ENST00000205135	T;T;T;T;T|.	0.71341|.	-0.3;-0.27;-0.56;-0.43;-0.56|.	4.65|4.65	3.62|3.62	0.41486|0.41486	.|.	0.231613|.	0.27473|.	N|.	0.019210|.	T|T	0.36110|0.36110	0.0955|0.0955	L|L	0.36672|0.36672	1.1|1.1	0.29692|0.29692	N|N	0.84084|0.84084	B;B;B;B|.	0.17852|.	0.024;0.012;0.017;0.001|.	B;B;B;B|.	0.15052|.	0.01;0.012;0.009;0.005|.	T|T	0.27434|0.27434	-1.0074|-1.0074	10|5	0.13853|.	T|.	0.58|.	.|.	8.4163|8.4163	0.32672|0.32672	0.106:0.0:0.894:0.0|0.106:0.0:0.894:0.0	.|.	456;456;397;456|.	Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2|.	.;PKHG2_HUMAN;.;.|.	T|I	456;456;456;397;456|352	ENSP00000386733:A456T;ENSP00000392906:A456T;ENSP00000367812:A456T;ENSP00000408857:A397T;ENSP00000386492:A456T|.	ENSP00000367812:A456T|.	A|M	+|+	1|3	0|0	PLEKHG2|PLEKHG2	44603299|44603299	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.842000|1.842000	0.39250|0.39250	1.177000|1.177000	0.42855|0.42855	0.655000|0.655000	0.94253|0.94253	GCT|ATG		0.602	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		4	70	0	0	0	1	0	4	70					A	39911459	G	A	39911459	3	1	435	1	0	0	0	0	1	0	0	0	12069	1319	46	3	1412	3	PLEKHG2	19	39911459	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32203	39911459	19217524	8277	29202											
SUPT5H	6829	broad.mit.edu	37	chr19	39962264	39962264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgagaaggggagattcGccatctcttccgaagcttcg	8	8	14	11	4	1	2	0	0	1	2	5	5	2	2	3	3	1	1	3	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39962264G>A	ENST00000599117.1	+	21	2211	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H	SUPT5H_ENST00000402194.2_Missense_Mutation_p.R611H|SUPT5H_ENST00000432763.2_Missense_Mutation_p.R615H|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R611H|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R615H			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	615	KOW 4.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			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)			GGGGAGATTCGCCATCTCTTC	0.577																																						ENST00000599117.1																			0				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						c.(1843-1845)cGc>cAc		suppressor of Ty 5 homolog (S. cerevisiae)							51	54	53					19																	39962264		2203	4300	6503	SO:0001583	missense	6829				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	g.chr19:39962264G>A	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1844G>A	19.37:g.39962264G>A	ENSP00000470252:p.Arg615His					SUPT5H_ENST00000432763.2_Missense_Mutation_p.R615H|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R615H|SUPT5H_ENST00000402194.2_Missense_Mutation_p.R611H|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R611H	p.R615H			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		21	2211	+	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)		615			KOW 4.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.1844G>A	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559311	0.86335	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.42	5.42	0.78866	KOW (1);	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	L	0.29908	0.895	0.80722	D	1	D;D;D	0.71674	0.981;0.998;0.993	P;P;P	0.59703	0.54;0.862;0.731	T	0.59595	-0.7425	8	.	.	.	-18.8327	17.9916	0.89171	0.0:0.0:1.0:0.0	.	407;611;615	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	H	615;611;593;615	.	.	R	+	2	0	SUPT5H	44654104	1.000000	0.71417	0.981000	0.43875	0.482000	0.33219	9.554000	0.98121	2.516000	0.84829	0.563000	0.77884	CGC		0.577	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		24	16	0	0	0	1	0	24	16					A	39962264	G	A	39962264	3	1	435	1	0	0	0	0	1	0	0	0	15396	1087	38	1	1918	1	SUPT5H	19	39962264	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	50805	39962264	19166719	8278	29203											
SUPT5H	6829	broad.mit.edu	37	chr19	39963546	39963546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcatcggccagaccgtgcGcatctcccaggggccctaca	8	6	10	17	3	2	1	1	0	1	1	4	1	2	1	4	3	2	1	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39963546G>A	ENST00000599117.1	+	23	2499	c.2132G>A	c.(2131-2133)cGc>cAc	p.R711H	SUPT5H_ENST00000402194.2_Missense_Mutation_p.R707H|SUPT5H_ENST00000432763.2_Missense_Mutation_p.R711H|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R707H|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R711H			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	711	KOW 5.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.R711H(1)		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)			CAGACCGTGCGCATCTCCCAG	0.692																																						ENST00000599117.1																			1	Substitution - Missense(1)	p.R711H(1)	large_intestine(1)	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						c.(2131-2133)cGc>cAc		suppressor of Ty 5 homolog (S. cerevisiae)							44	45	45					19																	39963546		2203	4300	6503	SO:0001583	missense	6829				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	g.chr19:39963546G>A	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2132G>A	19.37:g.39963546G>A	ENSP00000470252:p.Arg711His					SUPT5H_ENST00000432763.2_Missense_Mutation_p.R711H|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R711H|SUPT5H_ENST00000402194.2_Missense_Mutation_p.R707H|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R707H	p.R711H			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		23	2499	+	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)		711			KOW 5.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.2132G>A	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019380	0.93462	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.9	4.9	0.64082	KOW (2);	0.053606	0.64402	D	0.000001	T	0.74635	0.3742	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.74348	0.932;0.983;0.961;0.969	T	0.74241	-0.3729	8	.	.	.	-15.5295	16.8478	0.85985	0.0:0.0:1.0:0.0	.	689;503;707;711	B4DZJ7;B4DJK4;O00267-2;O00267	.;.;.;SPT5H_HUMAN	H	711;707;689;711	.	.	R	+	2	0	SUPT5H	44655386	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.237000	0.95368	2.263000	0.75096	0.557000	0.71058	CGC		0.692	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		11	13	0	0	0	1	0	11	13					A	39963546	G	A	39963546	3	1	435	1	0	0	0	0	1	0	0	0	15396	1087	38	1	2214	1	SUPT5H	19	39963546	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1282	39963546	19165437	8279	29204											
TIMM50	92609	broad.mit.edu	37	chr19	39977113	39977113	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attccgggacgccacaagatAcatggatggacaccatgtaa	14	7	10	10	2	0	1	0	0	0	1	1	4	1	4	3	3	1	1	3	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39977113A>G	ENST00000607714.1	+	8	696	c.674A>G	c.(673-675)tAc>tGc	p.Y225C	TIMM50_ENST00000544017.1_Missense_Mutation_p.Y112C|TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000314349.4_Missense_Mutation_p.Y328C			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	225	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	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)			GCCACAAGATACATGGATGGA	0.587																																						ENST00000314349.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14						c.(982-984)tAc>tGc		translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)							81	72	75					19																	39977113		2203	4300	6503	SO:0001583	missense	92609				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	g.chr19:39977113A>G	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	23656	protein-coding gene	gene with protein product		607381	"translocase of inner mitochondrial membrane 50 homolog (yeast)"			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.674A>G	19.37:g.39977113A>G	ENSP00000475531:p.Tyr225Cys					TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000607714.1_Missense_Mutation_p.Y225C|TIMM50_ENST00000544017.1_Missense_Mutation_p.Y112C	p.Y328C	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		8	1116	+	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)		225					Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	37	c.983A>G		.	.	.	.	.	.	.	.	.	.	A	21.2	4.114539	0.77210	.	.	ENSG00000105197	ENST00000314349;ENST00000544017	T;T	0.17691	2.26;2.26	4.93	4.93	0.64822	NLI interacting factor (3);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	M	0.64170	1.965	0.80722	D	1	D;P	0.89917	1.0;0.732	D;P	0.97110	1.0;0.528	T	0.07829	-1.0752	9	.	.	.	-16.2476	13.6787	0.62469	1.0:0.0:0.0:0.0	.	225;328	Q3ZCQ8;Q3ZCQ8-2	TIM50_HUMAN;.	C	328;112	ENSP00000318115:Y328C;ENSP00000445806:Y112C	.	Y	+	2	0	TIMM50	44668953	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	8.633000	0.90999	2.059000	0.61396	0.379000	0.24179	TAC		0.587	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		21	33	0	0	0	1	0	21	33					G	39977113	A	G	39977113	3	3	435	1	0	0	0	0	1	0	0	0	15910	391	14	4	1013	4	TIMM50	19	39977113	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	13567	39977113	19151870	8280	29205											
TIMM50	92609	broad.mit.edu	37	chr19	39979204	39979204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgaatggtgtggaggaCgtgcgaaccgtgctggagca	9	7	17	8	3	0	1	0	1	0	0	0	5	0	4	1	4	4	3	1	4	2	0	rs571764361		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39979204C>T	ENST00000607714.1	+	10	901	c.879C>T	c.(877-879)gaC>gaT	p.D293D	TIMM50_ENST00000544017.1_Silent_p.D180D|TIMM50_ENST00000599794.1_Silent_p.D97D|TIMM50_ENST00000314349.4_Silent_p.D396D			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	293					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	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)			GTGTGGAGGACGTGCGAACCG	0.622													C|||	1	0.000199681	0	0	5008	,	,		18973	0		0	False		,,,				2504	0.001					ENST00000314349.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14						c.(1186-1188)gaC>gaT		translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)							142	142	142					19																	39979204		2203	4300	6503	SO:0001819	synonymous_variant	92609				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	g.chr19:39979204C>T	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	23656	protein-coding gene	gene with protein product		607381	"translocase of inner mitochondrial membrane 50 homolog (yeast)"			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.879C>T	19.37:g.39979204C>T						TIMM50_ENST00000599794.1_Silent_p.D97D|TIMM50_ENST00000607714.1_Silent_p.D293D|TIMM50_ENST00000544017.1_Silent_p.D180D	p.D396D	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		10	1321	+	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)		293					Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Silent	SNP	ENST00000607714.1	37	c.1188C>T																																																																																					0.622	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		26	132	0	0	0	1	0	26	132					T	39979204	C	T	39979204	2	4	435	1	0	0	0	0	0	0	0	1	15910	535	19	1		1	TIMM50	19	39979204	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2091	39979204	19149779	8281	29206											
LGALS14	56891	broad.mit.edu	37	chr19	40199920	40199920	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgctgcaagtcttcagagaTatctccctgaccagagtgct	10	11	9	11	0	3	3	1	1	2	2	4	4	3	3	2	0	3	3	2	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:40199920T>C	ENST00000392052.3	+	4	610	c.387T>C	c.(385-387)gaT>gaC	p.D129D	LGALS14_ENST00000360675.3_Silent_p.D158D	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	129	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)	nucleus (GO:0005634)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TCTTCAGAGATATCTCCCTGA	0.473																																						ENST00000392052.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14						c.(385-387)gaT>gaC		lectin, galactoside-binding, soluble, 14							104	95	98					19																	40199920		2203	4300	6503	SO:0001819	synonymous_variant	56891					nucleus	sugar binding	g.chr19:40199920T>C	AF267852	CCDS12542.1, CCDS46073.1	19q13.2	2014-03-19			ENSG00000006659	ENSG00000006659		"Lectins, galactoside-binding"	30054	protein-coding gene	gene with protein product		607260				11997112	Standard	NM_020129		Approved	PPL13, CLC2	uc002omg.3	Q8TCE9	OTTHUMG00000183143	ENST00000392052.3:c.387T>C	19.37:g.40199920T>C						LGALS14_ENST00000360675.3_Silent_p.D158D	p.D129D	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)		4	610	+	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	129			Galectin.		A8MPV8|B2R530|C5HZ19|Q7Z4X8|Q96KD4|Q96KD5|Q96KD6|Q9NR03	Silent	SNP	ENST00000392052.3	37	c.387T>C	CCDS46073.1																																																																																				0.473	LGALS14-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465222.1	NM_020129		25	34	0	0	0	1	0	25	34					C	40199920	T	C	40199920	2	2	435	1	0	0	0	0	0	0	0	1	8741	1403	49	4		4	LGALS14	19	40199920	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	220716	40199920	18929063	8282	29207											
DYRK1B	9149	broad.mit.edu	37	chr19	40316606	40316606	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggggacgaccaaggtatcGgggctgggggggtaactggg	7	6	22	6	2	0	0	0	0	0	0	1	2	0	1	1	9	1	3	1	9	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:40316606G>A	ENST00000593685.1	-	11	2107	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*	DYRK1B_ENST00000430012.2_Nonsense_Mutation_p.R507*|DYRK1B_ENST00000348817.3_Nonsense_Mutation_p.R519*|DYRK1B_ENST00000597639.1_Nonsense_Mutation_p.R519*|DYRK1B_ENST00000323039.5_Nonsense_Mutation_p.R547*			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	547					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			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)			CCAAGGTATCGGGGCTGGGGG	0.687																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1639-1641)Cga>Tga		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							23	29	27					19																	40316606		2161	4242	6403	SO:0001587	stop_gained	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316606G>A	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1639C>T	19.37:g.40316606G>A	ENSP00000469863:p.Arg547*					DYRK1B_ENST00000597639.1_Nonsense_Mutation_p.R519*|DYRK1B_ENST00000348817.3_Nonsense_Mutation_p.R519*|DYRK1B_ENST00000323039.5_Nonsense_Mutation_p.R547*|DYRK1B_ENST00000430012.2_Nonsense_Mutation_p.R507*	p.R547*			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2107	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		547					O75258|O75788|O75789	Nonsense_Mutation	SNP	ENST00000593685.1	37	c.1639C>T	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	G	39	7.659000	0.98415	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	.	.	.	5.01	5.01	0.66863	.	0.442996	0.22299	N	0.061893	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8016	0.78456	0.0:0.0:1.0:0.0	.	.	.	.	X	547;519;507	.	ENSP00000312789:R547X	R	-	1	2	DYRK1B	45008446	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.010000	0.70753	2.289000	0.77006	0.462000	0.41574	CGA		0.687	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		19	26	0	0	0	1	0	19	26					A	40316606	G	A	40316606	4	1	435	1	0	0	0	0	0	1	0	0	4855	1124	39	2	254	2	DYRK1B	19	40316606	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	116686	40316606	18812377	8283	29208											
FCGBP	8857	broad.mit.edu	37	chr19	40364195	40364195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctggcccacactcacagCgccgctcacactcagggccc	8	4	8	21	2	3	0	3	0	0	0	3	0	3	0	4	2	1	1	4	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:40364195C>T	ENST00000221347.6	-	31	14454	c.14447G>A	c.(14446-14448)cGc>cAc	p.R4816H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4816						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACACTCACAGCGCCGCTCACA	0.662																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(14446-14448)cGc>cAc		Fc fragment of IgG binding protein							31	34	33					19																	40364195		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40364195C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14447G>A	19.37:g.40364195C>T	ENSP00000221347:p.Arg4816His						p.R4816H	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		31	14454	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4816					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.14447G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274221	0.23221	.	.	ENSG00000090920	ENST00000221347	T	0.05025	3.51	5.04	-4.84	0.03151	.	0.624433	0.14643	N	0.307064	T	0.04318	0.0119	L	0.48986	1.54	0.23016	N	0.998428	B	0.30236	0.274	B	0.20767	0.031	T	0.28459	-1.0043	10	0.39692	T	0.17	.	4.4119	0.11438	0.2382:0.3989:0.0:0.3629	.	4816	Q9Y6R7	FCGBP_HUMAN	H	4816	ENSP00000221347:R4816H	ENSP00000221347:R4816H	R	-	2	0	FCGBP	45056035	0.000000	0.05858	0.761000	0.31378	0.303000	0.27691	-0.726000	0.04936	-0.534000	0.06315	0.313000	0.20887	CGC		0.662	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		6	27	0	0	0	1	0	6	27					T	40364195	C	T	40364195	3	4	435	1	0	0	0	0	1	0	0	0	5778	768	27	1	1794	1	FCGBP	19	40364195	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	47589	40364195	18764788	8284	29209											
FCGBP	8857	broad.mit.edu	37	chr19	40398445	40398445	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcaccaccacgtcggcGccgctcaggtgtgcgtgcag	5	7	15	14	5	2	0	2	0	0	0	3	0	2	0	3	3	2	2	3	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:40398445G>A	ENST00000221347.6	-	14	6529	c.6522C>T	c.(6520-6522)ggC>ggT	p.G2174G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2174	VWFD 5. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCACGTCGGCGCCGCTCAGGT	0.682																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(6520-6522)ggC>ggT		Fc fragment of IgG binding protein							23	26	25					19																	40398445		1825	3500	5325	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40398445G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6522C>T	19.37:g.40398445G>A							p.G2174G	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		14	6529	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2174			VWFD 5.		O95784	Silent	SNP	ENST00000221347.6	37	c.6522C>T	CCDS12546.1																																																																																				0.682	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		18	23	0	0	0	1	0	18	23					A	40398445	G	A	40398445	2	1	435	1	0	0	0	0	0	0	0	1	5778	1074	38	1		1	FCGBP	19	40398445	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	34250	40398445	18730538	8285	29210											
AKT2	208	broad.mit.edu	37	chr19	40762906	40762906	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctccttgtacccaatgaaGgagccgtcgctcttcagcag	8	10	9	14	2	3	1	1	1	2	0	5	2	3	2	3	1	3	3	3	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:40762906G>T	ENST00000392038.2	-	3	400	c.102C>A	c.(100-102)tcC>tcA	p.S34S	AKT2_ENST00000424901.1_Silent_p.S34S|AKT2_ENST00000311278.6_Silent_p.S34S|AKT2_ENST00000579047.1_5'UTR	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	34	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			ACCCAATGAAGGAGCCGTCGC	0.552			A		"ovarian, pancreatic "																																	ENST00000392038.2				Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			"ovarian, pancreatic "		0				breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27						c.(100-102)tcC>tcA		v-akt murine thymoma viral oncogene homolog 2							87	79	82					19																	40762906		2203	4300	6503	SO:0001819	synonymous_variant	208				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	g.chr19:40762906G>T	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"Pleckstrin homology (PH) domain containing"	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.102C>A	19.37:g.40762906G>T						AKT2_ENST00000424901.1_Silent_p.S34S|AKT2_ENST00000579047.1_5'UTR|AKT2_ENST00000311278.6_Silent_p.S34S	p.S34S	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	Lung(22;0.000499)		3	400	-			34			PH.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Silent	SNP	ENST00000392038.2	37	c.102C>A	CCDS12552.1																																																																																				0.552	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		16	25	1	0	1.02788e-11	1	1.10723e-11	16	25					T	40762906	G	T	40762906	2	4	435	1	0	0	0	0	0	0	0	1	480	987	35	5		5	AKT2	19	40762906	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	364461	40762906	18366077	8286	29211											
C19orf47	126526	broad.mit.edu	37	chr19	40834430	40834430	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggagagtcatggttcAggctgttggtgatcattcgg	6	13	17	5	1	3	2	3	1	0	1	4	3	3	2	0	6	0	3	0	6	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:40834430A>C	ENST00000582783.1	-	6	452	c.440T>G	c.(439-441)cTg>cGg	p.L147R	C19orf47_ENST00000392035.2_Missense_Mutation_p.L80R	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	147						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			GTCATGGTTCAGGCTGTTGGT	0.607																																						ENST00000582783.1																			0				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(439-441)cTg>cGg		chromosome 19 open reading frame 47							180	183	182					19																	40834430		2203	4300	6503	SO:0001583	missense	126526							g.chr19:40834430A>C	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.440T>G	19.37:g.40834430A>C	ENSP00000463159:p.Leu147Arg					C19orf47_ENST00000392035.2_Missense_Mutation_p.L80R	p.L147R	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		6	452	-			147					Q8IZ33|Q8N0V9	Missense_Mutation	SNP	ENST00000582783.1	37	c.440T>G	CCDS58662.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.861769	0.71949	.	.	ENSG00000160392	ENST00000357884;ENST00000392035	D	0.99214	-5.57	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	D	0.99205	0.9724	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99940	1.1398	10	0.21540	T	0.41	0.006	14.4282	0.67230	1.0:0.0:0.0:0.0	.	147	Q8N9M1	CS047_HUMAN	R	147;80	ENSP00000375889:L80R	ENSP00000350556:L147R	L	-	2	0	C19orf47	45526270	1.000000	0.71417	0.999000	0.59377	0.323000	0.28346	8.567000	0.90737	2.119000	0.64992	0.379000	0.24179	CTG		0.607	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		27	101	0	0	0	1	0	27	101					C	40834430	A	C	40834430	3	2	435	1	0	0	0	0	1	0	0	0	1930	188	7	5	844	5	C19orf47	19	40834430	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	71524	40834430	18294553	8287	29212											
PRX	57716	broad.mit.edu	37	chr19	40899994	40899994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtccccactcccactcCgggccttggggcttagggac	4	8	12	17	1	0	0	0	0	0	0	3	1	3	1	6	5	0	1	6	5	1	2	rs142436702	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:40899994C>T	ENST00000324001.7	-	7	4535	c.4265G>A	c.(4264-4266)cGg>cAg	p.R1422Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1422					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)			ACTCCCACTCCGGGCCTTGGG	0.687																																						ENST00000324001.7																			0				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						c.(4264-4266)cGg>cAg		periaxin		C	,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	54	64	61		,4265	1.2	1	19	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	yes	utr-3,missense	PRX	NM_020956.2,NM_181882.2	,43	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,probably-damaging	,1422/1462	40899994	4,13002	2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40899994C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4265G>A	19.37:g.40899994C>T	ENSP00000326018:p.Arg1422Gln					PRX_ENST00000291825.7_3'UTR	p.R1422Q	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	4535	-			1422					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.4265G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650836	0.29336	6.81E-4	1.16E-4	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02085	4.46	4.67	1.2	0.21068	.	0.627824	0.14245	N	0.331830	T	0.00936	0.0031	N	0.08118	0	0.80722	D	1	B	0.34181	0.44	B	0.21917	0.037	T	0.60362	-0.7278	10	0.15952	T	0.53	-6.842	3.1724	0.06556	0.0:0.4871:0.2231:0.2899	.	1422	Q9BXM0	PRAX_HUMAN	Q	1422;1357	ENSP00000326018:R1422Q	ENSP00000326018:R1422Q	R	-	2	0	PRX	45591834	0.001000	0.12720	0.996000	0.52242	0.996000	0.88848	-0.683000	0.05179	0.587000	0.29643	0.655000	0.94253	CGG		0.687	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		6	45	0	0	0	1	0	6	45					T	40899994	C	T	40899994	3	4	435	1	0	0	0	0	1	0	0	0	12642	652	23	2	124	2	PRX	19	40899994	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	65564	40899994	18228989	8288	29213											
SPTBN4	57731	broad.mit.edu	37	chr19	41025863	41025863	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcgcatcgtggcggccagCgaggcgctgctggccgccga	4	5	17	15	7	0	0	0	0	0	0	2	2	0	0	3	4	2	4	3	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41025863C>T	ENST00000352632.3	+	16	3545	c.3459C>T	c.(3457-3459)agC>agT	p.S1153S	SPTBN4_ENST00000595535.1_Silent_p.S1153S|SPTBN4_ENST00000344104.3_Silent_p.S1153S|SPTBN4_ENST00000338932.3_Silent_p.S1153S|SPTBN4_ENST00000598249.1_Silent_p.S1153S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1153					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			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)			TGGCGGCCAGCGAGGCGCTGC	0.687																																						ENST00000352632.3																			0				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						c.(3457-3459)agC>agT		spectrin, beta, non-erythrocytic 4							5	6	6					19																	41025863		1813	3660	5473	SO:0001819	synonymous_variant	57731				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	g.chr19:41025863C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3459C>T	19.37:g.41025863C>T						SPTBN4_ENST00000595535.1_Silent_p.S1153S|SPTBN4_ENST00000338932.3_Silent_p.S1153S|SPTBN4_ENST00000598249.1_Silent_p.S1153S|SPTBN4_ENST00000344104.3_Silent_p.S1153S	p.S1153S			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		16	3545	+			1153					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.3459C>T	CCDS12559.1																																																																																				0.687	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			3	5	0	0	0	1	0	3	5					T	41025863	C	T	41025863	2	4	435	1	0	0	0	0	0	0	0	1	15120	767	27	1		1	SPTBN4	19	41025863	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	125869	41025863	18103120	8289	29214											
SPTBN4	57731	broad.mit.edu	37	chr19	41063166	41063166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcataagttcttcagtgacGcccgagagcttcagggacag	10	10	11	10	2	4	2	3	1	1	1	4	4	4	3	1	1	1	2	1	1	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41063166G>A	ENST00000352632.3	+	26	5613	c.5527G>A	c.(5527-5529)Gcc>Acc	p.A1843T	SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1843T|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A586T|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A519T|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1843T|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1843T			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1843					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A519S(1)|p.A1843S(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTCAGTGACGCCCGAGAGCT	0.662																																						ENST00000352632.3																			2	Substitution - Missense(2)	p.A519S(1)|p.A1843S(1)	lung(2)	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						c.(5527-5529)Gcc>Acc		spectrin, beta, non-erythrocytic 4							26	30	29					19																	41063166		2203	4299	6502	SO:0001583	missense	57731				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	g.chr19:41063166G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5527G>A	19.37:g.41063166G>A	ENSP00000263373:p.Ala1843Thr					SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1843T|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A519T|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1843T|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A586T|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1843T	p.A1843T			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	5613	+			1843					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5527G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742149	0.69418	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	3.63	3.63	0.41609	.	0.197662	0.35936	N	0.002898	T	0.55000	0.1893	L	0.39898	1.24	0.31596	N	0.653332	D;D;D;D	0.65815	0.995;0.986;0.992;0.993	P;P;P;P	0.51974	0.565;0.548;0.515;0.686	T	0.63171	-0.6697	10	0.62326	D	0.03	.	8.8292	0.35074	0.0:0.0:0.6445:0.3555	.	586;519;1843;1843	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	T	1843;1843;1843;586;519	ENSP00000263373:A1843T;ENSP00000340345:A1843T;ENSP00000375879:A586T;ENSP00000375877:A519T	ENSP00000340345:A1843T	A	+	1	0	SPTBN4	45755006	0.359000	0.24955	0.985000	0.45067	0.867000	0.49689	1.563000	0.36364	2.036000	0.60181	0.455000	0.32223	GCC		0.662	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			14	25	0	0	0	1	0	14	25					A	41063166	G	A	41063166	3	1	435	1	0	0	0	0	1	0	0	0	15120	1087	38	1	5625	1	SPTBN4	19	41063166	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	37303	41063166	18065817	8290	29215											
LTBP4	8425	broad.mit.edu	37	chr19	41125316	41125316	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgaaaatgtcgaaggCtccttcctctgtgtctgccc	6	13	10	12	1	2	1	0	1	2	0	5	2	4	1	3	1	1	1	3	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41125316C>T	ENST00000308370.7	+	26	3333	c.3333C>T	c.(3331-3333)ggC>ggT	p.G1111G	LTBP4_ENST00000545697.1_Silent_p.G479G|LTBP4_ENST00000243562.9_Silent_p.G165G|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Silent_p.G1044G|LTBP4_ENST00000204005.9_Silent_p.G1074G	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1112	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGTCGAAGGCTCCTTCCTCT	0.537																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(3331-3333)ggC>ggT		latent transforming growth factor beta binding protein 4							121	123	122					19																	41125316		1997	4176	6173	SO:0001819	synonymous_variant	8425				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	g.chr19:41125316C>T	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3333C>T	19.37:g.41125316C>T						LTBP4_ENST00000243562.9_Silent_p.G165G|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.G1074G|LTBP4_ENST00000396819.3_Silent_p.G1044G|LTBP4_ENST00000545697.1_Silent_p.G479G	p.G1111G	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	3333	+			1112			Cys-rich.		O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37	c.3333C>T																																																																																					0.537	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		23	41	0	0	0	1	0	23	41					T	41125316	C	T	41125316	2	4	435	1	0	0	0	0	0	0	0	1	9076	784	28	3		3	LTBP4	19	41125316	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	62150	41125316	18003667	8291	29216											
LTBP4	8425	broad.mit.edu	37	chr19	41129556	41129556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggtgtgcaagagtggcGtgtgtgtgaacacggccccg	8	7	16	10	3	0	2	0	1	0	1	0	2	0	2	3	3	2	1	3	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41129556G>A	ENST00000308370.7	+	29	3802	c.3802G>A	c.(3802-3804)Gtg>Atg	p.V1268M	LTBP4_ENST00000545697.1_Missense_Mutation_p.V636M|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.V1201M|LTBP4_ENST00000204005.9_Missense_Mutation_p.V1231M	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1269	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAAGAGTGGCGTGTGTGTGAA	0.597																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(3802-3804)Gtg>Atg		latent transforming growth factor beta binding protein 4							85	91	89					19																	41129556		2106	4230	6336	SO:0001583	missense	8425				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	g.chr19:41129556G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3802G>A	19.37:g.41129556G>A	ENSP00000311905:p.Val1268Met					LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.V1231M|LTBP4_ENST00000396819.3_Missense_Mutation_p.V1201M|LTBP4_ENST00000545697.1_Missense_Mutation_p.V636M	p.V1268M	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		29	3802	+			1269			EGF-like 13; calcium-binding (Potential).		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.3802G>A		.	.	.	.	.	.	.	.	.	.	G	9.446	1.089321	0.20390	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	4.02	4.02	0.46733	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.30455	U	0.009582	T	0.38161	0.1030	.	.	.	0.36684	D	0.879192	D;D;D;B;B;B	0.76494	0.999;0.999;0.983;0.106;0.106;0.106	P;D;P;B;B;B	0.63192	0.871;0.912;0.692;0.066;0.027;0.027	T	0.43081	-0.9413	9	0.46703	T	0.11	.	10.4477	0.44503	0.0:0.0:0.8046:0.1954	.	29;281;489;1201;1269;1231	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	M	1231;636;1268;1201;29	ENSP00000204005:V1231M;ENSP00000441054:V636M;ENSP00000311905:V1268M;ENSP00000380031:V1201M	ENSP00000204005:V1231M	V	+	1	0	LTBP4	45821396	0.284000	0.24287	0.992000	0.48379	0.512000	0.34134	0.776000	0.26704	2.077000	0.62373	0.313000	0.20887	GTG		0.597	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		8	14	0	0	0	1	0	8	14					A	41129556	G	A	41129556	3	1	435	1	0	0	0	0	1	0	0	0	9076	1145	40	1	4207	1	LTBP4	19	41129556	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4240	41129556	17999427	8292	29217											
ADCK4	79934	broad.mit.edu	37	chr19	41209498	41209498	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagcaggttctggacatcGctctgaatgctctgggctat	7	11	12	11	1	3	1	0	1	3	0	4	2	3	2	1	3	2	5	1	3	2	2	rs368884308		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41209498G>A	ENST00000324464.3	-	9	1048	c.747C>T	c.(745-747)agC>agT	p.S249S	ADCK4_ENST00000243583.6_Silent_p.S208S|ADCK4_ENST00000450541.1_Silent_p.S208S	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	249	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			TCTGGACATCGCTCTGAATGC	0.642																																						ENST00000324464.3																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17						c.(745-747)agC>agT		aarF domain containing kinase 4		G	,	1,4405	2.1+/-5.4	0,1,2202	63	63	63		624,747	-10.1	0	19		63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ADCK4	NM_001142555.2,NM_024876.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	208/504,249/545	41209498	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41209498G>A	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.747C>T	19.37:g.41209498G>A						ADCK4_ENST00000450541.1_Silent_p.S208S|ADCK4_ENST00000243583.6_Silent_p.S208S	p.S249S	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		9	1048	-			249			Protein kinase.		Q8TAJ1|Q9HA52	Silent	SNP	ENST00000324464.3	37	c.747C>T	CCDS12562.1																																																																																				0.642	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		9	13	0	0	0	1	0	9	13					A	41209498	G	A	41209498	2	1	435	1	0	0	0	0	0	0	0	1	290	1078	38	1		1	ADCK4	19	41209498	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	79942	41209498	17919485	8293	29218											
RAB4B	53916	broad.mit.edu	37	chr19	41292636	41292636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaggcgttcctcaagtgtgCccgcactatcctcaacaaga	10	8	10	13	2	2	1	2	0	0	1	4	2	4	2	3	2	2	2	3	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41292636C>T	ENST00000594800.1	+	6	657	c.497C>T	c.(496-498)gCc>gTc	p.A166V	RAB4B-EGLN2_ENST00000601949.1_3'UTR|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.A166V|RAB4B_ENST00000602069.1_3'UTR|RAB4B_ENST00000357052.2_Missense_Mutation_p.A166V			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	166					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTCAAGTGTGCCCGCACTATC	0.637																																						ENST00000594136.1																			0											c.(496-498)gCc>gTc									80	69	73					19																	41292636		2203	4300	6503	SO:0001583	missense	0							g.chr19:41292636C>T	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"RAB, member RAS oncogene"	9782	protein-coding gene	gene with protein product	"ras-related GTP-binding protein 4b", "small GTP binding protein RAB4B"	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.497C>T	19.37:g.41292636C>T	ENSP00000470246:p.Ala166Val					RAB4B_ENST00000594800.1_Missense_Mutation_p.A166V|RAB4B_ENST00000602069.1_3'UTR|RAB4B-EGLN2_ENST00000601949.1_3'UTR|RAB4B_ENST00000357052.2_Missense_Mutation_p.A166V	p.A166V							6	602	+								P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	c.497C>T	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	-	14.71	2.617309	0.46736	.	.	ENSG00000167578	ENST00000357052	T	0.79454	-1.27	4.29	3.26	0.37387	.	0.061412	0.64402	N	0.000005	T	0.67429	0.2892	L	0.37561	1.115	0.80722	D	1	P;B	0.35328	0.495;0.257	B;B	0.34536	0.185;0.077	T	0.68941	-0.5276	10	0.72032	D	0.01	.	10.8785	0.46925	0.0:0.9051:0.0:0.0949	.	201;166	P61018-2;P61018	.;RAB4B_HUMAN	V	166	ENSP00000349560:A166V	ENSP00000349560:A166V	A	+	2	0	RAB4B	45984476	1.000000	0.71417	0.945000	0.38365	0.470000	0.32858	7.560000	0.82277	1.021000	0.39600	0.187000	0.17357	GCC		0.637	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154		10	18	0	0	0	1	0	10	18					T	41292636	C	T	41292636	3	4	435	1	0	0	0	0	1	0	0	0	12947	739	26	3	519	3	RAB4B	19	41292636	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	83138	41292636	17836347	8294	29219											
RAB4B	53916	broad.mit.edu	37	chr19	41292855	41292855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccgtggcccctcagcCgtgtggctgctgagctctgt	3	9	14	15	2	2	1	1	1	1	0	2	1	2	1	5	3	3	3	5	3	0	0	rs372611375		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41292855C>T	ENST00000594800.1	+	7	789	c.629C>T	c.(628-630)cCg>cTg	p.P210L	RAB4B-EGLN2_ENST00000601949.1_3'UTR|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.P210L|RAB4B_ENST00000357052.2_Missense_Mutation_p.P210L			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	210					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCCCCTCAGCCGTGTGGCTGC	0.667																																						ENST00000594136.1																			0											c.(628-630)cCg>cTg					LEU/PRO	0,4404		0,0,2202	25	26	26		629	1.1	1	19		26	2,8590		0,2,4294	no	missense	RAB4B	NM_016154.4	98	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	benign	210/214	41292855	2,12994	2202	4296	6498	SO:0001583	missense	0							g.chr19:41292855C>T	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"RAB, member RAS oncogene"	9782	protein-coding gene	gene with protein product	"ras-related GTP-binding protein 4b", "small GTP binding protein RAB4B"	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.629C>T	19.37:g.41292855C>T	ENSP00000470246:p.Pro210Leu					RAB4B_ENST00000594800.1_Missense_Mutation_p.P210L|RAB4B-EGLN2_ENST00000601949.1_3'UTR|RAB4B_ENST00000357052.2_Missense_Mutation_p.P210L	p.P210L							7	734	+								P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	c.629C>T	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	-	9.814	1.183977	0.21870	0.0	2.33E-4	ENSG00000167578	ENST00000357052	T	0.61627	0.09	4.77	1.15	0.20763	.	0.069626	0.64402	D	0.000014	T	0.31451	0.0797	N	0.08118	0	0.80722	D	1	P;B	0.34864	0.473;0.029	B;B	0.29524	0.103;0.018	T	0.11299	-1.0593	10	0.33940	T	0.23	.	11.8841	0.52592	0.6585:0.3415:0.0:0.0	.	245;210	P61018-2;P61018	.;RAB4B_HUMAN	L	210	ENSP00000349560:P210L	ENSP00000349560:P210L	P	+	2	0	RAB4B	45984695	0.937000	0.31787	0.985000	0.45067	0.005000	0.04900	1.754000	0.38369	0.588000	0.29660	-0.455000	0.05494	CCG		0.667	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154		5	10	0	0	0	1	0	5	10					T	41292855	C	T	41292855	3	4	435	1	0	0	0	0	1	0	0	0	12947	652	23	2	655	2	RAB4B	19	41292855	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	219	41292855	17836128	8295	29220											
EGLN2	112398	broad.mit.edu	37	chr19	41307260	41307260	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcatggcccatgtggaCgccgtcatccgccactgcgc	5	7	11	18	4	2	0	2	0	0	0	3	1	3	1	5	2	1	0	5	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41307260C>T	ENST00000593726.1	+	1	1811	c.783C>T	c.(781-783)gaC>gaT	p.D261D	CTC-490E21.12_ENST00000601627.1_Missense_Mutation_p.T20M|EGLN2_ENST00000594140.1_5'Flank|EGLN2_ENST00000406058.2_Silent_p.D261D|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000303961.4_Silent_p.D261D			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	261					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|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 (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	CCCATGTGGACGCCGTCATCC	0.657																																						ENST00000601627.1																			0											c.(58-60)aCg>aTg									36	33	34					19																	41307260		2203	4294	6497	SO:0001819	synonymous_variant	0							g.chr19:41307260C>T	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 1"	606424	"EGL nine (C.elegans) homolog 2", "egl nine homolog 2 (C. elegans)"				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.783C>T	19.37:g.41307260C>T						RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Silent_p.D261D|EGLN2_ENST00000303961.4_Silent_p.D261D|EGLN2_ENST00000593726.1_Silent_p.D261D	p.T20M							1	59	+								A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	ENST00000593726.1	37	c.59C>T	CCDS12567.1																																																																																				0.657	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			9	16	0	0	0	1	0	9	16					T	41307260	C	T	41307260	2	4	435	1	0	0	0	0	0	0	0	1	4969	535	19	1		1	EGLN2	19	41307260	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14405	41307260	17821723	8296	29221											
CYP2A6	1548	broad.mit.edu	37	chr19	41354570	41354570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcctcctcctggatgcGctcctcgatgcctcgcttgc	2	10	10	19	4	0	0	0	0	0	0	5	2	3	1	6	1	3	2	6	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41354570G>A	ENST00000301141.5	-	3	462	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	148					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|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 (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TCCTGGATGCGCTCCTCGATG	0.692																																						ENST00000301141.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37						c.(442-444)Cgc>Tgc		cytochrome P450, family 2, subfamily A, polypeptide 6	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)						40	42	42					19																	41354570		2203	4299	6502	SO:0001583	missense	1548				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	g.chr19:41354570G>A	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"Cytochrome P450s"	2610	protein-coding gene	gene with protein product		122720	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.442C>T	19.37:g.41354570G>A	ENSP00000301141:p.Arg148Cys					CTC-490E21.12_ENST00000601627.1_Intron	p.R148C	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	462	-			148					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.442C>T	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	18.41	3.617654	0.66787	.	.	ENSG00000255974	ENST00000301141	T	0.69926	-0.44	2.95	0.504	0.16946	.	0.066533	0.64402	U	0.000010	T	0.60025	0.2237	L	0.48642	1.525	0.37884	D	0.930477	D	0.54207	0.965	P	0.48677	0.586	T	0.60642	-0.7223	10	0.72032	D	0.01	.	5.946	0.19219	0.1125:0.0:0.7008:0.1866	.	148	P11509	CP2A6_HUMAN	C	148	ENSP00000301141:R148C	ENSP00000301141:R148C	R	-	1	0	CYP2A6	46046410	0.001000	0.12720	0.975000	0.42487	0.346000	0.29079	0.632000	0.24583	-0.016000	0.14127	0.380000	0.24917	CGC		0.692	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		6	38	0	0	0	1	0	6	38					A	41354570	G	A	41354570	3	1	435	1	0	0	0	0	1	0	0	0	4162	1087	38	1	1070	1	CYP2A6	19	41354570	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	47310	41354570	17774413	8297	29222											
CYP2A7	1549	broad.mit.edu	37	chr19	41386435	41386435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccgactcctcctggatgcGctcctcgatgcctcgcttgc	3	10	10	18	4	0	0	0	0	0	0	5	3	3	1	5	1	3	2	5	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41386435G>A	ENST00000301146.4	-	3	983	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.R97C	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	148						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCCTGGATGCGCTCCTCGATG	0.662																																						ENST00000301146.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(442-444)Cgc>Tgc		cytochrome P450, family 2, subfamily A, polypeptide 7							46	42	43					19																	41386435		2202	4300	6502	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41386435G>A	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.442C>T	19.37:g.41386435G>A	ENSP00000301146:p.Arg148Cys					CYP2A7_ENST00000291764.3_Missense_Mutation_p.R97C|CTC-490E21.12_ENST00000601627.1_Intron	p.R148C	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	983	-			148					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.442C>T	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	g	14.61	2.588256	0.46110	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.69926	-0.44;-0.44	2.2	2.2	0.27929	.	0.066533	0.64402	U	0.000010	T	0.72260	0.3438	L	0.50993	1.605	0.35200	D	0.774183	D;D;D	0.76494	0.999;0.994;0.979	P;P;P	0.62491	0.903;0.811;0.652	T	0.80233	-0.1467	10	0.72032	D	0.01	.	11.4542	0.50171	0.0:0.0:1.0:0.0	.	148;97;148	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	C	148;97	ENSP00000301146:R148C;ENSP00000291764:R97C	ENSP00000291764:R97C	R	-	1	0	CYP2A7	46078275	0.873000	0.30073	0.116000	0.21606	0.027000	0.11550	1.974000	0.40559	1.216000	0.43427	0.187000	0.17357	CGC		0.662	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		9	24	0	0	0	1	0	9	24					A	41386435	G	A	41386435	3	1	435	1	0	0	0	0	1	0	0	0	4163	1087	38	1	1070	1	CYP2A7	19	41386435	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31865	41386435	17742548	8298	29223											
CYP2A13	1553	broad.mit.edu	37	chr19	41601670	41601670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctctcctcctcaggaaagCggtactgttttggagaaggc	8	10	12	11	1	2	1	1	0	1	1	4	3	3	2	3	4	2	2	3	4	3	3	rs559504306	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41601670C>T	ENST00000330436.3	+	9	1309	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	437					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.R437W(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CTCAGGAAAGCGGTACTGTTT	0.572													c|||	2	0.000399361	8e-04	0	5008	,	,		15125	0.001		0	False		,,,				2504	0					ENST00000330436.3																			1	Substitution - Missense(1)	p.R437W(1)	kidney(1)	breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(1309-1311)Cgg>Tgg		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						119	112	115					19																	41601670		2203	4300	6503	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41601670C>T	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.1309C>T	19.37:g.41601670C>T	ENSP00000332679:p.Arg437Trp						p.R437W	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			9	1309	+			437					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.1309C>T	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	18.27	3.587684	0.66105	.	.	ENSG00000197838	ENST00000330436	D	0.84873	-1.91	4.18	4.18	0.49190	Cytochrome P450, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94466	0.8219	H	0.95504	3.68	0.33608	D	0.603247	D	0.89917	1.0	D	0.97110	1.0	D	0.98106	1.0417	10	0.87932	D	0	.	15.6121	0.76733	0.0:1.0:0.0:0.0	.	437	Q16696	CP2AD_HUMAN	W	437	ENSP00000332679:R437W	ENSP00000332679:R437W	R	+	1	2	CYP2A13	46293510	0.964000	0.33143	0.993000	0.49108	0.960000	0.62799	1.199000	0.32235	2.225000	0.72522	0.568000	0.79292	CGG		0.572	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		27	26	0	0	0	1	0	27	26					T	41601670	C	T	41601670	3	4	435	1	0	0	0	0	1	0	0	0	4161	759	27	1	1343	1	CYP2A13	19	41601670	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	215235	41601670	17527313	8299	29224											
AXL	558	broad.mit.edu	37	chr19	41737137	41737137	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtctcccgccaacccacGgagctggaggtggcttggac	6	7	14	14	2	1	0	0	0	1	0	2	3	1	3	3	6	2	2	3	6	1	1	rs142452494		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41737137G>A	ENST00000301178.4	+	6	907	c.717G>A	c.(715-717)acG>acA	p.T239T	AXL_ENST00000593513.1_5'UTR|AXL_ENST00000359092.3_Silent_p.T239T	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	239	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T239T(1)		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						GCCAACCCACGGAGCTGGAGG	0.612																																						ENST00000301178.4																			1	Substitution - coding silent(1)	p.T239T(1)	large_intestine(1)	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						c.(715-717)acG>acA		AXL receptor tyrosine kinase		G	,	0,4406		0,0,2203	62	59	60		717,717	-9.4	0.7	19	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AXL	NM_001699.4,NM_021913.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	239/886,239/895	41737137	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41737137G>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.717G>A	19.37:g.41737137G>A						AXL_ENST00000593513.1_5'UTR|AXL_ENST00000359092.3_Silent_p.T239T	p.T239T	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			6	907	+			239			Fibronectin type-III 1.		Q8N5L2|Q9UD27	Silent	SNP	ENST00000301178.4	37	c.717G>A	CCDS12575.1																																																																																				0.612	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			11	18	0	0	0	1	0	11	18					A	41737137	G	A	41737137	2	1	435	1	0	0	0	0	0	0	0	1	1238	1103	39	2		2	AXL	19	41737137	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	135467	41737137	17391846	8300	29225											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41808629	41808629	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttctgttcattgagctgCagcgggaggaagcggacaag	10	8	16	7	2	2	1	1	1	1	0	2	4	2	4	0	4	4	4	0	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41808629C>T	ENST00000392006.3	+	12	1920	c.1747C>T	c.(1747-1749)Cag>Tag	p.Q583*	HNRNPUL1_ENST00000378215.4_Nonsense_Mutation_p.Q469*|HNRNPUL1_ENST00000602130.1_Nonsense_Mutation_p.Q583*|HNRNPUL1_ENST00000595018.1_Nonsense_Mutation_p.Q483*|HNRNPUL1_ENST00000263367.3_Nonsense_Mutation_p.Q494*|HNRNPUL1_ENST00000352456.3_Nonsense_Mutation_p.Q483*|HNRNPUL1_ENST00000593587.1_Nonsense_Mutation_p.Q483*	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	583	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			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						CATTGAGCTGCAGCGGGAGGA	0.562																																						ENST00000392006.3																			0				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						c.(1747-1749)Cag>Tag		heterogeneous nuclear ribonucleoprotein U-like 1							84	79	81					19																	41808629		2203	4300	6503	SO:0001587	stop_gained	11100				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	g.chr19:41808629C>T	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"E1B 55kDa associated protein 5"	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1747C>T	19.37:g.41808629C>T	ENSP00000375863:p.Gln583*					HNRNPUL1_ENST00000593587.1_Nonsense_Mutation_p.Q483*|HNRNPUL1_ENST00000378215.4_Nonsense_Mutation_p.Q469*|HNRNPUL1_ENST00000352456.3_Nonsense_Mutation_p.Q483*|HNRNPUL1_ENST00000602130.1_Nonsense_Mutation_p.Q583*|HNRNPUL1_ENST00000263367.3_Nonsense_Mutation_p.Q494*|HNRNPUL1_ENST00000595018.1_Nonsense_Mutation_p.Q483*	p.Q583*	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN			12	1920	+			583			Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Nonsense_Mutation	SNP	ENST00000392006.3	37	c.1747C>T	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	39	7.632872	0.98403	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-12.7685	17.9067	0.88920	0.0:1.0:0.0:0.0	.	.	.	.	X	483;583;469;494	.	ENSP00000263367:Q494X	Q	+	1	0	HNRNPUL1	46500469	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.283000	0.78640	2.837000	0.97791	0.591000	0.81541	CAG		0.562	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		20	29	0	0	0	1	0	20	29					T	41808629	C	T	41808629	4	4	435	1	0	0	0	0	0	1	0	0	7274	711	25	3	1793	3	HNRNPUL1	19	41808629	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	71492	41808629	17320354	8301	29226											
CCDC97	90324	broad.mit.edu	37	chr19	41822696	41822696	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccggccccgcaccctgcgtAcccgcctgcgtaaccggcgc	4	4	11	22	7	0	0	0	0	0	0	0	0	0	0	7	2	4	3	7	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41822696A>G	ENST00000269967.3	+	2	576	c.454A>G	c.(454-456)Acc>Gcc	p.T152A		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	152										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CACCCTGCGTACCCGCCTGCG	0.682																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(454-456)Acc>Gcc		coiled-coil domain containing 97							25	28	27					19																	41822696		2202	4294	6496	SO:0001583	missense	90324							g.chr19:41822696A>G	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.454A>G	19.37:g.41822696A>G	ENSP00000269967:p.Thr152Ala						p.T152A	NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN			2	576	+			152					Q658N6|Q96IF3	Missense_Mutation	SNP	ENST00000269967.3	37	c.454A>G	CCDS12578.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.753238	0.69648	.	.	ENSG00000142039	ENST00000269967	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.49321	0.1550	L	0.44542	1.39	0.47341	D	0.999393	D	0.61080	0.989	P	0.49140	0.601	T	0.40365	-0.9567	9	0.15499	T	0.54	-3.5863	12.9979	0.58657	1.0:0.0:0.0:0.0	.	152	Q96F63	CCD97_HUMAN	A	152	.	ENSP00000269967:T152A	T	+	1	0	CCDC97	46514536	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.742000	0.74843	1.718000	0.51419	0.455000	0.32223	ACC		0.682	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		16	29	0	0	0	1	0	16	29					G	41822696	A	G	41822696	3	3	435	1	0	0	0	0	1	0	0	0	2875	391	14	4	460	4	CCDC97	19	41822696	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	14067	41822696	17306287	8302	29227											
CCDC97	90324	broad.mit.edu	37	chr19	41828534	41828534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accccgacttcgacaacctcGacatcgtggcacgggatgag	10	6	11	14	5	0	1	0	1	0	0	3	5	0	2	3	2	1	1	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41828534G>A	ENST00000269967.3	+	5	1068	c.946G>A	c.(946-948)Gac>Aac	p.D316N		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	316										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CGACAACCTCGACATCGTGGC	0.612																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(946-948)Gac>Aac		coiled-coil domain containing 97							146	118	127					19																	41828534		2203	4300	6503	SO:0001583	missense	90324							g.chr19:41828534G>A	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.946G>A	19.37:g.41828534G>A	ENSP00000269967:p.Asp316Asn						p.D316N	NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN			5	1068	+			316					Q658N6|Q96IF3	Missense_Mutation	SNP	ENST00000269967.3	37	c.946G>A	CCDS12578.1	.	.	.	.	.	.	.	.	.	.	g	19.82	3.897943	0.72639	.	.	ENSG00000142039	ENST00000269967	.	.	.	4.35	4.35	0.52113	.	0.000000	0.64402	U	0.000001	T	0.66781	0.2824	L	0.39085	1.19	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.67011	-0.5778	9	0.40728	T	0.16	-11.4511	15.653	0.77112	0.0:0.0:1.0:0.0	.	316	Q96F63	CCD97_HUMAN	N	316	.	ENSP00000269967:D316N	D	+	1	0	CCDC97	46520374	1.000000	0.71417	1.000000	0.80357	0.147000	0.21601	7.809000	0.86057	1.981000	0.57761	0.298000	0.19748	GAC		0.612	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		10	48	0	0	0	1	0	10	48					A	41828534	G	A	41828534	3	1	435	1	0	0	0	0	1	0	0	0	2875	1058	37	2	964	2	CCDC97	19	41828534	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5838	41828534	17300449	8303	29228											
EXOSC5	56915	broad.mit.edu	37	chr19	41903140	41903140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggttctgttcgcaggCaaagtgccggaggctgcagc	8	7	15	11	2	1	0	0	0	1	0	2	1	1	1	1	4	4	7	1	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41903140C>T	ENST00000221233.4	-	1	244	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000269980.2_5'Flank|BCKDHA_ENST00000595085.1_Intron|BCKDHA_ENST00000457836.2_5'Flank|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A32T|CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.10_ENST00000598988.1_RNA	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	32					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TGTTCGCAGGCAAAGTGCCGG	0.587																																						ENST00000221233.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(94-96)Gcc>Acc		exosome component 5							128	121	123					19																	41903140		2203	4300	6503	SO:0001583	missense	56915				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	g.chr19:41903140C>T	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"exosome component Rrp46"	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.94G>A	19.37:g.41903140C>T	ENSP00000221233:p.Ala32Thr					CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A32T|BCKDHA_ENST00000595085.1_Intron	p.A32T	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN			1	244	-			32					Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	c.94G>A	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168575	0.57584	.	.	ENSG00000077348	ENST00000221233	T	0.62105	0.05	5.55	5.55	0.83447	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.159578	0.53938	D	0.000054	T	0.37892	0.1020	N	0.03608	-0.345	0.42547	D	0.993098	B	0.27656	0.184	B	0.22152	0.038	T	0.34229	-0.9837	10	0.14656	T	0.56	-17.2989	16.5422	0.84395	0.0:1.0:0.0:0.0	.	32	Q9NQT4	EXOS5_HUMAN	T	32	ENSP00000221233:A32T	ENSP00000221233:A32T	A	-	1	0	EXOSC5	46594980	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.291000	0.51764	2.893000	0.99171	0.590000	0.80494	GCC		0.587	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158		36	51	0	0	0	1	0	36	51					T	41903140	C	T	41903140	3	4	435	1	0	0	0	0	1	0	0	0	5318	710	25	3	637	3	EXOSC5	19	41903140	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	74606	41903140	17225843	8304	29229											
B3GNT8	593	broad.mit.edu	37	chr19	41931655	41931655	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctggggcaccaggcccagGgctcggatgcaaaggccagt	8	4	16	13	1	0	0	0	0	0	0	1	1	0	1	4	6	1	3	4	6	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41931655G>A	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000601379.1_5'Flank|CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000321702.2_Silent_p.A343A	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CCAGGCCCAGGGCTCGGATGC	0.687																																						ENST00000321702.2																			0				cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						c.(1027-1029)gcC>gcT		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8							32	36	35					19																	41931655		2199	4294	6493	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41931655G>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41931655G>A						CTC-435M10.6_ENST00000598887.1_RNA	p.A343A	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN			3	1482	-			343					B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	c.1029C>T	CCDS12581.1																																																																																				0.687	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		17	22	0	0	0	1	0	17	22					A	41931655	G	A	41931655	1	1	435	0	1	0	0	0	0	0	0	0	1263	1219	43	3		3	B3GNT8	19	41931655	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28515	41931655	17197328	8305	29230											
CEACAM6	4680	broad.mit.edu	37	chr19	42260867	42260867	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggacagttccatgtatacCgtgagtatttccacatgacc	10	11	8	12	2	0	2	0	2	0	0	2	3	2	3	5	1	1	3	5	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42260867C>T	ENST00000199764.6	+	2	642	c.424C>T	c.(424-426)Ccg>Tcg	p.P142S	AC011513.4_ENST00000601409.1_RNA|CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	142	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P142S(1)		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)		CCATGTATACCGTGAGTATTT	0.488																																						ENST00000199764.6																			1	Substitution - Missense(1)	p.P142S(1)	breast(1)	breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.e2+1		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							242	241	241					19																	42260867		2203	4300	6503	SO:0001630	splice_region_variant	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42260867C>T	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.424+1C>T	19.37:g.42260867C>T						CEA_ENST00000598976.1_Intron	p.P142_splice	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	2	642	+			142			Ig-like V-type.		Q13774|Q14920|Q53XP7	Splice_Site	SNP	ENST00000199764.6	37	c.424_splice	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	C	5.781	0.328519	0.10956	.	.	ENSG00000086548	ENST00000199764	T	0.21191	2.02	2.15	-0.876	0.10624	.	.	.	.	.	T	0.10895	0.0266	N	0.25992	0.78	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40496	-0.9560	9	0.07813	T	0.8	.	7.1362	0.25529	0.0:0.4392:0.5608:0.0	.	142	P40199	CEAM6_HUMAN	S	142	ENSP00000199764:P142S	ENSP00000199764:P142S	P	+	1	0	CEACAM6	46952707	0.001000	0.12720	0.010000	0.14722	0.046000	0.14306	-1.270000	0.02831	0.164000	0.19529	0.305000	0.20034	CCG		0.488	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1		Missense_Mutation	5	204	0	0	0	1	0	5	204					T	42260867	C	T	42260867	5	4	435	1	0	0	0	0	0	0	1	0	3196	666	23	2	430	2	CEACAM6	19	42260867	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	329212	42260867	16868116	8306	29231											
LYPD4	147719	broad.mit.edu	37	chr19	42342249	42342249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggaggcaatggacactcCgggtggggaaacaaggtagg	12	5	18	6	1	0	0	0	0	0	0	1	3	1	3	1	8	1	3	1	8	5	2	rs550628417		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42342249C>T	ENST00000330743.3	-	4	1509	c.298G>A	c.(298-300)Gga>Aga	p.G100R	LYPD4_ENST00000343055.4_Missense_Mutation_p.G65R|LYPD4_ENST00000601246.1_Missense_Mutation_p.G65R|AC020956.3_ENST00000593354.1_lincRNA	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	100						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						ATGGACACTCCGGGTGGGGAA	0.542													-|||	1	0.000199681	8e-04	0	5008	,	,		17762	0		0	False		,,,				2504	0					ENST00000330743.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(298-300)Gga>Aga		LY6/PLAUR domain containing 4							123	111	115					19																	42342249		2203	4300	6503	SO:0001583	missense	147719					anchored to membrane|plasma membrane		g.chr19:42342249C>T	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.298G>A	19.37:g.42342249C>T	ENSP00000328737:p.Gly100Arg					LYPD4_ENST00000343055.4_Missense_Mutation_p.G65R|LYPD4_ENST00000601246.1_Missense_Mutation_p.G65R	p.G100R	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN			4	1509	-			100					Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	37	c.298G>A	CCDS12587.1	.	.	.	.	.	.	.	.	.	.	c	16.32	3.090324	0.55968	.	.	ENSG00000183103	ENST00000330743;ENST00000343055	T;T	0.59502	2.53;0.26	3.99	3.99	0.46301	.	0.000000	0.49305	D	0.000154	T	0.75547	0.3864	M	0.83223	2.63	0.37352	D	0.910864	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.81556	-0.0879	10	0.87932	D	0	-11.1126	11.9434	0.52913	0.0:1.0:0.0:0.0	.	65;100	Q6UWN0-2;Q6UWN0	.;LYPD4_HUMAN	R	100;65	ENSP00000328737:G100R;ENSP00000339568:G65R	ENSP00000328737:G100R	G	-	1	0	LYPD4	47034089	0.976000	0.34144	0.984000	0.44739	0.333000	0.28666	2.958000	0.49145	2.544000	0.85801	0.451000	0.29950	GGA		0.542	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		10	23	0	0	0	1	0	10	23					T	42342249	C	T	42342249	3	4	435	1	0	0	0	0	1	0	0	0	9112	661	23	2	450	2	LYPD4	19	42342249	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	81382	42342249	16786734	8307	29232											
ARHGEF1	9138	broad.mit.edu	37	chr19	42409371	42409371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccggatccctgaaagtccCtgcccctgcctctcgcccta	5	9	8	19	2	1	1	0	1	1	0	4	2	3	2	7	1	3	0	7	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42409371C>T	ENST00000354532.3	+	24	2442	c.2294C>T	c.(2293-2295)cCt>cTt	p.P765L	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.P732L|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.P780L|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.P821L|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.P747L	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	765					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CTGAAAGTCCCTGCCCCTGCC	0.672																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2461-2463)cCt>cTt		Rho guanine nucleotide exchange factor (GEF) 1							52	51	51					19																	42409371		2203	4300	6503	SO:0001583	missense	0				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42409371C>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2294C>T	19.37:g.42409371C>T	ENSP00000346532:p.Pro765Leu					ARHGEF1_ENST00000337665.4_Missense_Mutation_p.P780L|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.P765L|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.P732L|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.P747L	p.P821L			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	25	2587	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	765					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.2462C>T	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662499	0.67700	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.64803	0.02;0.04;0.02;-0.12	3.93	3.93	0.45458	.	0.094359	0.43579	D	0.000551	T	0.72803	0.3506	L	0.54323	1.7	0.51482	D	0.99992	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.997;0.997;0.993	T	0.71167	-0.4672	10	0.32370	T	0.25	-9.2464	13.8408	0.63437	0.0:1.0:0.0:0.0	.	747;780;732;765	Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;ARHG1_HUMAN	L	765;732;780;747	ENSP00000346532:P765L;ENSP00000344429:P732L;ENSP00000337261:P780L;ENSP00000367394:P747L	ENSP00000337261:P780L	P	+	2	0	ARHGEF1	47101211	0.624000	0.27102	0.997000	0.53966	0.878000	0.50629	1.514000	0.35834	1.917000	0.55516	0.555000	0.69702	CCT		0.672	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		22	30	0	0	0	1	0	22	30					T	42409371	C	T	42409371	3	4	435	1	0	0	0	0	1	0	0	0	893	681	24	3	2433	3	ARHGEF1	19	42409371	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	67122	42409371	16719612	8308	29233											
ZNF574	64763	broad.mit.edu	37	chr19	42583593	42583593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccacagttacgagctgCgcaatggtgaagccattggg	10	8	13	10	2	0	2	0	2	0	0	0	3	0	2	2	2	4	3	2	2	3	2	rs376269644		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42583593C>T	ENST00000600245.1	+	2	1490	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.R279C|ZNF574_ENST00000222339.7_Missense_Mutation_p.R369C			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R279C(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TTACGAGCTGCGCAATGGTGA	0.647																																						ENST00000600245.1																			1	Substitution - Missense(1)	p.R279C(1)	large_intestine(1)	endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(835-837)Cgc>Tgc		zinc finger protein 574		C	CYS/ARG	0,4406		0,0,2203	46	55	52		835	5	1	19		52	2,8596	2.2+/-6.3	0,2,4297	no	missense	ZNF574	NM_022752.5	180	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	279/897	42583593	2,13002	2203	4299	6502	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42583593C>T	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"Zinc fingers, C2H2-type"	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.835C>T	19.37:g.42583593C>T	ENSP00000469029:p.Arg279Cys					ZNF574_ENST00000359044.4_Missense_Mutation_p.R279C|ZNF574_ENST00000222339.7_Missense_Mutation_p.R369C|CTB-59C6.3_ENST00000594531.1_RNA	p.R279C			Q6ZN55	ZN574_HUMAN			2	1490	+		Prostate(69;0.059)	279					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.835C>T	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522455	0.64747	0.0	2.33E-4	ENSG00000105732	ENST00000222339;ENST00000359044	T;T	0.06768	3.26;3.27	4.96	4.96	0.65561	.	0.250136	0.27710	N	0.018173	T	0.13200	0.0320	N	0.08118	0	0.40490	D	0.980532	D;D	0.89917	0.999;1.0	P;D	0.72338	0.898;0.977	T	0.35500	-0.9786	10	0.52906	T	0.07	-27.9299	15.7534	0.78005	0.0:1.0:0.0:0.0	.	279;368	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	C	369;279	ENSP00000222339:R369C;ENSP00000351939:R279C	ENSP00000222339:R369C	R	+	1	0	ZNF574	47275433	0.718000	0.27976	1.000000	0.80357	0.875000	0.50365	1.738000	0.38207	2.559000	0.86315	0.655000	0.94253	CGC		0.647	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		18	36	0	0	0	1	0	18	36					T	42583593	C	T	42583593	3	4	435	1	0	0	0	0	1	0	0	0	18003	768	27	1	837	1	ZNF574	19	42583593	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	174222	42583593	16545390	8309	29234											
ZNF574	64763	broad.mit.edu	37	chr19	42585299	42585299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcaagacccatcagcagcaGcatcaggcagctgtgcggca	11	4	12	14	2	2	1	2	0	0	1	2	1	2	1	1	2	5	7	1	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42585299G>A	ENST00000600245.1	+	2	3196	c.2541G>A	c.(2539-2541)caG>caA	p.Q847Q	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Silent_p.Q847Q|ZNF574_ENST00000222339.7_Silent_p.Q937Q			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	847					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				ATCAGCAGCAGCATCAGGCAG	0.642																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(2539-2541)caG>caA		zinc finger protein 574							62	66	65					19																	42585299		2203	4300	6503	SO:0001819	synonymous_variant	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42585299G>A	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"Zinc fingers, C2H2-type"	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.2541G>A	19.37:g.42585299G>A						ZNF574_ENST00000359044.4_Silent_p.Q847Q|ZNF574_ENST00000222339.7_Silent_p.Q937Q	p.Q847Q			Q6ZN55	ZN574_HUMAN			2	3196	+		Prostate(69;0.059)	847					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Silent	SNP	ENST00000600245.1	37	c.2541G>A	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	G	3.014	-0.203304	0.06180	.	.	ENSG00000105732	ENST00000535775	.	.	.	4.71	3.65	0.41850	.	.	.	.	.	T	0.34135	0.0887	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12889	-1.0530	5	0.02654	T	1	-20.8292	12.3237	0.54999	0.0857:0.0:0.9143:0.0	.	.	.	.	N	454	.	ENSP00000445515:S454N	S	+	2	0	ZNF574	47277139	0.698000	0.27777	1.000000	0.80357	0.966000	0.64601	0.000000	0.12993	1.174000	0.42811	0.460000	0.39030	AGC		0.642	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		7	50	0	0	0	1	0	7	50					A	42585299	G	A	42585299	2	1	435	1	0	0	0	0	0	0	0	1	18003	962	34	3		3	ZNF574	19	42585299	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1706	42585299	16543684	8310	29235											
POU2F2	5452	broad.mit.edu	37	chr19	42596302	42596302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgctgttggtggtggccGggggtgggggagtgacagag	4	10	23	4	1	0	2	0	1	0	1	0	3	0	3	1	7	1	2	1	7	0	2	rs185988799	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42596302G>A	ENST00000526816.2	-	13	1334	c.1319C>T	c.(1318-1320)cCg>cTg	p.P440L	POU2F2_ENST00000560558.1_Missense_Mutation_p.P385L|POU2F2_ENST00000342301.4_Missense_Mutation_p.P440L|POU2F2_ENST00000529067.1_Intron|POU2F2_ENST00000529952.1_Missense_Mutation_p.P440L|POU2F2_ENST00000389341.5_Missense_Mutation_p.P424L|POU2F2_ENST00000560398.1_Missense_Mutation_p.P446L|POU2F2_ENST00000533720.1_Missense_Mutation_p.P424L			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	440					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			Dolutegravir(DB08930)	GGTGGTGGCCGGGGGTGGGGG	0.706													G|||	4	0.000798722	0	0	5008	,	,		10306	0		0.001	False		,,,				2504	0.0031					ENST00000389341.5																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1270-1272)cCg>cTg		POU class 2 homeobox 2		G	LEU/PRO,LEU/PRO,LEU/PRO	0,4404		0,0,2202	20	24	23		1319,1319,1271	3.6	1	19		23	3,8585		0,3,4291	no	missense,missense,missense	POU2F2	NM_001207025.1,NM_001207026.1,NM_002698.3	98,98,98	0,3,6493	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	440/480,440/468,424/464	42596302	3,12989	2202	4294	6496	SO:0001583	missense	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42596302G>A		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9213	protein-coding gene	gene with protein product		164176	"POU domain class 2, transcription factor 2"	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.1319C>T	19.37:g.42596302G>A	ENSP00000431603:p.Pro440Leu					POU2F2_ENST00000529952.1_Missense_Mutation_p.P440L|POU2F2_ENST00000560398.1_Missense_Mutation_p.P446L|POU2F2_ENST00000342301.4_Missense_Mutation_p.P440L|POU2F2_ENST00000533720.1_Missense_Mutation_p.P424L|POU2F2_ENST00000560558.1_Missense_Mutation_p.P385L|POU2F2_ENST00000529067.1_Intron|POU2F2_ENST00000526816.2_Missense_Mutation_p.P440L	p.P424L	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN			13	1337	-		Prostate(69;0.059)	440			Gly-rich.		Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.1271C>T	CCDS56095.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.20	3.782185	0.70222	0.0	3.49E-4	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529952	D;D;D;D;D	0.83250	-1.59;-1.62;-1.63;-1.7;-1.6	3.62	3.62	0.41486	.	1.321280	0.05805	U	0.612920	D	0.87014	0.6072	L	0.32530	0.975	0.53688	D	0.999975	D;D	0.76494	0.994;0.999	D;D	0.68765	0.931;0.96	T	0.79938	-0.1592	10	0.52906	T	0.07	.	12.6335	0.56671	0.0:0.0:1.0:0.0	.	440;424	P09086;P09086-3	PO2F2_HUMAN;.	L	424;440;440;424;439;440	ENSP00000373992:P424L;ENSP00000339369:P440L;ENSP00000437221:P424L;ENSP00000431603:P439L;ENSP00000436988:P440L	ENSP00000292077:P440L	P	-	2	0	POU2F2	47288142	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.823000	0.69272	2.035000	0.60131	0.462000	0.41574	CCG		0.706	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			3	3	0	0	0	1	0	3	3					A	42596302	G	A	42596302	3	1	435	1	0	0	0	0	1	0	0	0	12272	1116	39	2	128	2	POU2F2	19	42596302	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11003	42596302	16532681	8311	29236											
DEDD2	162989	broad.mit.edu	37	chr19	42713926	42713926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggctggggcccctctcCgccgccgtctggcaccacca	3	6	13	19	4	2	0	0	0	2	0	3	0	2	0	7	4	1	2	7	4	0	0	rs372874604		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42713926C>T	ENST00000595337.1	-	4	602	c.515G>A	c.(514-516)cGg>cAg	p.R172Q	DEDD2_ENST00000598727.1_Missense_Mutation_p.R172Q|DEDD2_ENST00000336034.4_Missense_Mutation_p.R167Q|DEDD2_ENST00000596251.1_Missense_Mutation_p.R172Q|DEDD2_ENST00000593804.1_5'UTR	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	172					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				GGCCCCTCTCCGCCGCCGTCT	0.657																																						ENST00000595337.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5						c.(514-516)cGg>cAg		death effector domain containing 2							31	33	32					19																	42713926		2202	4296	6498	SO:0001583	missense	162989				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	g.chr19:42713926C>T	AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.515G>A	19.37:g.42713926C>T	ENSP00000470082:p.Arg172Gln					DEDD2_ENST00000336034.4_Missense_Mutation_p.R167Q|DEDD2_ENST00000598727.1_Missense_Mutation_p.R172Q|DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000596251.1_Missense_Mutation_p.R172Q	p.R172Q	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN			4	602	-		Prostate(69;0.0704)	172					Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Missense_Mutation	SNP	ENST00000595337.1	37	c.515G>A	CCDS12597.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845090	0.71603	.	.	ENSG00000160570	ENST00000336034	.	.	.	3.81	0.52	0.17040	.	0.486373	0.21473	N	0.073966	T	0.27765	0.0683	N	0.08118	0	0.36780	D	0.88426	B;B	0.18310	0.027;0.016	B;B	0.14023	0.01;0.004	T	0.08534	-1.0717	9	0.42905	T	0.14	-17.8418	8.1166	0.30946	0.0:0.7426:0.0:0.2574	.	167;172	Q8WXF8-2;Q8WXF8	.;DEDD2_HUMAN	Q	172	.	ENSP00000336972:R172Q	R	-	2	0	DEDD2	47405766	0.985000	0.35326	0.998000	0.56505	0.932000	0.56968	0.272000	0.18644	0.216000	0.20781	0.467000	0.42956	CGG		0.657	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463508.1	NM_133328		20	31	0	0	0	1	0	20	31					T	42713926	C	T	42713926	3	4	435	1	0	0	0	0	1	0	0	0	4385	652	23	2	473	2	DEDD2	19	42713926	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	117624	42713926	16415057	8312	29237											
ZNF526	116115	broad.mit.edu	37	chr19	42729173	42729173	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgagtgctctaccctctgCgccacccctgaggagttctt	5	11	9	16	1	3	2	0	2	3	0	3	3	3	3	5	1	3	2	5	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42729173C>T	ENST00000301215.3	+	3	843	c.618C>T	c.(616-618)tgC>tgT	p.C206C		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	206	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CTACCCTCTGCGCCACCCCTG	0.587																																						ENST00000301215.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22						c.(616-618)tgC>tgT		zinc finger protein 526							140	132	135					19																	42729173		2203	4300	6503	SO:0001819	synonymous_variant	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42729173C>T	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"Zinc fingers, C2H2-type"	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.618C>T	19.37:g.42729173C>T							p.C206C	NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN			3	843	+		Prostate(69;0.0704)	206			Glu-rich.		B3KV29|Q69YI2|Q96E24	Silent	SNP	ENST00000301215.3	37	c.618C>T	CCDS12598.1																																																																																				0.587	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		42	64	0	0	0	1	0	42	64					T	42729173	C	T	42729173	2	4	435	1	0	0	0	0	0	0	0	1	17964	776	27	1		1	ZNF526	19	42729173	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15247	42729173	16399810	8313	29238											
GSK3A	2931	broad.mit.edu	37	chr19	42736822	42736822	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatggcctctggcggcgttcGagatttgaacacctgaggga	8	9	15	9	3	1	3	0	2	1	1	2	6	1	4	2	4	1	1	2	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42736822G>A	ENST00000222330.3	-	9	1238	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	GSK3A_ENST00000398249.4_Nonsense_Mutation_p.R289*	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	371	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				GGCGGCGTTCGAGATTTGAAC	0.592																																						ENST00000398249.4																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(865-867)Cga>Tga		glycogen synthase kinase 3 alpha							48	49	49					19																	42736822		2203	4300	6503	SO:0001587	stop_gained	2931				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	g.chr19:42736822G>A		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1111C>T	19.37:g.42736822G>A	ENSP00000222330:p.Arg371*					GSK3A_ENST00000222330.3_Nonsense_Mutation_p.R371*	p.R289*			P49840	GSK3A_HUMAN			8	2578	-		Prostate(69;0.00682)	371			Protein kinase.		O14959	Nonsense_Mutation	SNP	ENST00000222330.3	37	c.865C>T	CCDS12599.1	.	.	.	.	.	.	.	.	.	.	G	38	7.199391	0.98129	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	.	.	.	4.92	2.71	0.32032	.	0.081794	0.47093	D	0.000256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.9812	10.4079	0.44274	0.1673:0.0:0.8327:0.0	.	.	.	.	X	371;289;316	.	ENSP00000222330:R371X	R	-	1	2	GSK3A	47428662	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	4.097000	0.57741	1.194000	0.43101	0.561000	0.74099	CGA		0.592	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1			6	12	0	0	0	1	0	6	12					A	42736822	G	A	42736822	4	1	435	1	0	0	0	0	0	1	0	0	6823	1066	37	2	352	2	GSK3A	19	42736822	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7649	42736822	16392161	8314	29239											
ERF	2077	broad.mit.edu	37	chr19	42753014	42753014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggtggcgggggcggtgggGctagcgcccctgccccctca	2	6	19	14	3	1	0	1	0	0	0	1	0	1	0	4	7	2	1	4	7	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42753014G>A	ENST00000222329.4	-	4	1407	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V	ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Missense_Mutation_p.A342V|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	417					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGGCGGTGGGGCTAGCGCCCC	0.677																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1249-1251)gCc>gTc		Ets2 repressor factor							38	47	44					19																	42753014		2143	4188	6331	SO:0001583	missense	2077				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	g.chr19:42753014G>A	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1250C>T	19.37:g.42753014G>A	ENSP00000222329:p.Ala417Val					ERF_ENST00000440177.2_Missense_Mutation_p.A342V|AC006486.9_ENST00000594664.1_Intron	p.A417V	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1407	-		Prostate(69;0.00682)	417					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	c.1250C>T	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	G	3.426	-0.117119	0.06838	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.20463	3.11;2.07	4.25	3.22	0.36961	.	3.737890	0.00589	N	0.000357	T	0.14399	0.0348	N	0.14661	0.345	0.18873	N	0.999985	B	0.33494	0.414	B	0.23275	0.045	T	0.27571	-1.0070	10	0.34782	T	0.22	.	11.0287	0.47759	0.093:0.0:0.907:0.0	.	417	P50548	ERF_HUMAN	V	417;342	ENSP00000222329:A417V;ENSP00000388173:A342V	ENSP00000222329:A417V	A	-	2	0	ERF	47444854	0.300000	0.24435	0.488000	0.27440	0.087000	0.18053	0.778000	0.26732	1.143000	0.42306	0.655000	0.94253	GCC		0.677	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		41	49	0	0	0	1	0	41	49					A	42753014	G	A	42753014	3	1	435	1	0	0	0	0	1	0	0	0	5221	1203	42	3	400	3	ERF	19	42753014	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16192	42753014	16375969	8315	29240											
CIC	23152	broad.mit.edu	37	chr19	42795296	42795296	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggtgggaccactgcGggctcaggagcaggtgctgg	5	7	19	10	1	1	0	1	0	0	0	1	2	1	2	2	7	3	3	2	7	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42795296G>A	ENST00000575354.2	+	10	2416	c.2376G>A	c.(2374-2376)gcG>gcA	p.A792A	CIC_ENST00000572681.2_Silent_p.A1701A|CIC_ENST00000160740.3_Silent_p.A792A	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	792	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			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)				GGACCACTGCGGGCTCAGGAG	0.682			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(5101-5103)gcG>gcA		capicua transcriptional repressor							13	15	14					19																	42795296		2196	4288	6484	SO:0001819	synonymous_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795296G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2376G>A	19.37:g.42795296G>A						CIC_ENST00000160740.3_Silent_p.A792A|CIC_ENST00000575354.2_Silent_p.A792A	p.A1701A			Q96RK0	CIC_HUMAN			11	5171	+		Prostate(69;0.00682)	792					Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	37	c.5103G>A	CCDS12601.1																																																																																				0.682	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			9	17	0	0	0	1	0	9	17					A	42795296	G	A	42795296	2	1	435	1	0	0	0	0	0	0	0	1	3424	1103	39	2		2	CIC	19	42795296	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42282	42795296	16333687	8316	29241											
MEGF8	1954	broad.mit.edu	37	chr19	42848911	42848911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgtccctggaggcctgcGtcacccagagcttcctgcct	5	9	10	17	2	2	1	2	0	0	1	4	2	4	2	5	2	3	1	5	2	0	1	rs374100226		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42848911G>A	ENST00000251268.6	+	12	2023	c.2023G>A	c.(2023-2025)Gtc>Atc	p.V675I	MEGF8_ENST00000334370.4_Missense_Mutation_p.V675I	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	675					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGAGGCCTGCGTCACCCAGAG	0.662																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2023-2025)Gtc>Atc		multiple EGF-like-domains 8		G	ILE/VAL	0,4406		0,0,2203	70	69	69		2023	0	1	19		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	MEGF8	NM_001410.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	675/2779	42848911	1,13005	2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42848911G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2023G>A	19.37:g.42848911G>A	ENSP00000251268:p.Val675Ile					MEGF8_ENST00000251268.6_Missense_Mutation_p.V675I	p.V675I	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			12	2658	+		Prostate(69;0.00682)	725					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.2023G>A		.	.	.	.	.	.	.	.	.	.	G	13.51	2.259281	0.39995	0.0	1.16E-4	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20463	2.07;2.07	4.93	0.0177	0.14113	.	0.382752	0.25175	N	0.032580	T	0.08223	0.0205	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.12156	0.0;0.007	T	0.19647	-1.0299	10	0.32370	T	0.25	-17.5609	4.7127	0.12880	0.2715:0.2609:0.4675:0.0	.	675;675	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	I	675	ENSP00000334219:V675I;ENSP00000251268:V675I	ENSP00000251268:V675I	V	+	1	0	MEGF8	47540751	0.967000	0.33354	0.955000	0.39395	0.957000	0.61999	1.997000	0.40786	0.152000	0.19188	-0.379000	0.06801	GTC		0.662	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		35	57	0	0	0	1	0	35	57					A	42848911	G	A	42848911	3	1	435	1	0	0	0	0	1	0	0	0	9463	1145	40	1	2069	1	MEGF8	19	42848911	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	53615	42848911	16280072	8317	29242											
MEGF8	1954	broad.mit.edu	37	chr19	42855367	42855367	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcccaactgacccccaGgaccccttctgtgagtggca	7	8	9	17	0	2	2	0	2	2	0	2	3	2	3	5	2	2	1	5	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42855367G>T	ENST00000251268.6	+	16	2736		c.e16-1		MEGF8_ENST00000334370.4_Splice_Site	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8						BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTGACCCCCAGGACCCCTTCT	0.667																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.e15-1		multiple EGF-like-domains 8							7	7	7					19																	42855367		2136	4227	6363	SO:0001630	splice_region_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42855367G>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2737-1G>T	19.37:g.42855367G>T						MEGF8_ENST00000251268.6_Splice_Site		NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			15	3170	+		Prostate(69;0.00682)						A8KAY0|O75097	Splice_Site	SNP	ENST00000251268.6	37			.	.	.	.	.	.	.	.	.	.	G	21.8	4.201147	0.79015	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1648	0.81747	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEGF8	47547207	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	8.180000	0.89694	2.408000	0.81797	0.655000	0.94253	.		0.667	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	Intron	3	2	1	0	0.00024832	1	0.000253518	3	2					T	42855367	G	T	42855367	5	4	435	1	0	0	0	0	0	0	1	0	9463	1014	35	5	2593	5	MEGF8	19	42855367	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6456	42855367	16273616	8318	29243											
LIPE	3991	broad.mit.edu	37	chr19	42910406	42910406	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagaggcggcaggctgcaGcattgtggccgggtaggctg	6	6	21	8	2	0	1	0	0	0	1	0	2	0	1	1	7	2	6	1	7	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42910406G>A	ENST00000244289.4	-	7	2548	c.2272C>T	c.(2272-2274)Ctg>Ttg	p.L758L	LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	758					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			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)				GCAGGCTGCAGCATTGTGGCC	0.662																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(2272-2274)Ctg>Ttg		lipase, hormone-sensitive							46	44	44					19																	42910406		2203	4300	6503	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42910406G>A	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2272C>T	19.37:g.42910406G>A						LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	p.L758L	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			7	2548	-		Prostate(69;0.00682)	758					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.2272C>T	CCDS12607.1																																																																																				0.662	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		8	19	0	0	0	1	0	8	19					A	42910406	G	A	42910406	2	1	435	1	0	0	0	0	0	0	0	1	8821	962	34	3		3	LIPE	19	42910406	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	55039	42910406	16218577	8319	29244											
PSG3	5671	broad.mit.edu	37	chr19	43233462	43233462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagagtccgcgaagcaggaCaagtagaggttttctcctga	11	10	12	8	2	1	3	0	1	1	2	3	5	2	4	2	2	1	3	2	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:43233462C>T	ENST00000327495.5	-	5	1240	c.1056G>A	c.(1054-1056)ttG>ttA	p.L352L	PSG3_ENST00000595140.1_Silent_p.L352L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	352	Ig-like C2-type 3.			Missing (in Ref. 9). {ECO:0000305}.	defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CGAAGCAGGACAAGTAGAGGT	0.443																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1054-1056)ttG>ttA		pregnancy specific beta-1-glycoprotein 3							153	163	159					19																	43233462		2203	4300	6503	SO:0001819	synonymous_variant	5671				defense response|female pregnancy	extracellular region		g.chr19:43233462C>T		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.1056G>A	19.37:g.43233462C>T						PSG3_ENST00000595140.1_Silent_p.L352L	p.L352L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			5	1240	-		Prostate(69;0.00682)	352	Missing (in Ref. 9).		Ig-like C2-type 3.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Silent	SNP	ENST00000327495.5	37	c.1056G>A	CCDS12611.1																																																																																				0.443	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		55	101	0	0	0	1	0	55	101					T	43233462	C	T	43233462	2	4	435	1	0	0	0	0	0	0	0	1	12656	477	17	3		3	PSG3	19	43233462	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	323056	43233462	15895521	8320	29245											
PSG7	5676	broad.mit.edu	37	chr19	43439705	43439705	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttctcatccactgtatGcaggcccatatttaattatt	9	17	5	10	0	1	0	1	0	1	0	3	0	2	0	2	1	1	3	2	1	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:43439705G>A	ENST00000406070.2	-	0	377				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TCCACTGTATGCAGGCCCATA	0.408																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							302	298	300					19																	43439705		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43439705G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439705G>A						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	377	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.408	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		46	238	0	0	0	1	0	46	238					A	43439705	G	A	43439705	1	1	435	0	1	0	0	0	0	0	0	0	12660	1319	46	3		3	PSG7	19	43439705	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	206243	43439705	15689278	8321	29246											
PSG2	5670	broad.mit.edu	37	chr19	43579557	43579557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggcactccctgagttccGtatttcacattcatagggtc	7	13	9	12	1	2	1	2	1	0	0	5	1	4	1	2	2	0	4	2	2	2	5	rs146901045	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:43579557G>A	ENST00000406487.1	-	3	756	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	220	Ig-like C2-type 1.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R220W(1)		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)				CCTGAGTTCCGTATTTCACAT	0.507													G|||	13	0.00259585	0.0076	0.0014	5008	,	,		19839	0.001		0	False		,,,				2504	0.001					ENST00000406487.1																			1	Substitution - Missense(1)	p.R220W(1)	lung(1)	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						c.(658-660)Cgg>Tgg		pregnancy specific beta-1-glycoprotein 2		G	TRP/ARG	21,4383		2,17,2183	231	242	238		658	-2.7	0	19	dbSNP_134	238	2,8594		0,2,4296	no	missense	PSG2	NM_031246.3	101	2,19,6479	AA,AG,GG		0.0233,0.4768,0.1769		220/336	43579557	23,12977	2202	4298	6500	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43579557G>A		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.658C>T	19.37:g.43579557G>A	ENSP00000385706:p.Arg220Trp						p.R220W	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN			3	756	-		Prostate(69;0.00682)	220			Ig-like C2-type 1.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.658C>T	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.825994	0.00589	0.004768	2.33E-4	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.13901	2.55	1.33	-2.66	0.06077	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07279	0.0184	N	0.17564	0.495	0.09310	N	1	B;B	0.22276	0.034;0.067	B;B	0.27170	0.022;0.077	T	0.24048	-1.0171	9	0.42905	T	0.14	.	2.9936	0.05991	0.3723:0.0:0.3049:0.3227	rs1058092;rs3198702;rs16976439	220;220	B5MCM8;P11465	.;PSG2_HUMAN	W	220	ENSP00000385706:R220W	ENSP00000332984:R220W	R	-	1	2	PSG2	48271397	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.886000	0.00342	-3.875000	0.00096	-3.574000	0.00029	CGG		0.507	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		14	245	0	0	0	1	0	14	245					A	43579557	G	A	43579557	3	1	435	1	0	0	0	0	1	0	0	0	12655	1144	40	1	361	1	PSG2	19	43579557	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	139852	43579557	15549426	8322	29247											
PSG9	5678	broad.mit.edu	37	chr19	43766195	43766195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catccaccataggtagcttgCgtccagagtctcaggatcac	10	9	9	13	1	2	1	2	0	1	1	5	2	4	2	3	2	2	2	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:43766195C>T	ENST00000270077.3	-	3	622	c.526G>A	c.(526-528)Gca>Aca	p.A176T	PSG9_ENST00000443718.3_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.A176T|PSG9_ENST00000244293.7_Missense_Mutation_p.A176T|PSG9_ENST00000418820.2_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	176	Ig-like C2-type 1.		A -> T (in dbSNP:rs1058085).		female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGGTAGCTTGCGTCCAGAGTC	0.527																																						ENST00000244293.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(526-528)Gca>Aca		pregnancy specific beta-1-glycoprotein 9							244	237	239					19																	43766195		2203	4300	6503	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43766195C>T	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.526G>A	19.37:g.43766195C>T	ENSP00000270077:p.Ala176Thr					PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.A176T|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.A176T	p.A176T			Q00887	PSG9_HUMAN			3	592	-		Prostate(69;0.00682)	176		A -> T (in dbSNP:rs1058085).	Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.526G>A	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	0.016	-1.537949	0.00942	.	.	ENSG00000183668	ENST00000270077;ENST00000435220;ENST00000244293	T;T	0.12465	2.68;2.68	2.12	-2.91	0.05631	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03739	0.0106	N	0.04090	-0.28	0.09310	N	1	B;B;B	0.29085	0.069;0.232;0.089	B;B;B	0.29267	0.1;0.089;0.08	T	0.39251	-0.9623	9	0.02654	T	1	.	3.1105	0.06356	0.0:0.4122:0.2622:0.3257	.	176;176;176	Q15227;Q6LEU7;Q00887	.;.;PSG9_HUMAN	T	176;137;176	ENSP00000270077:A176T;ENSP00000244293:A176T	ENSP00000244293:A176T	A	-	1	0	PSG9	48458035	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.520000	0.02241	-0.087000	0.12528	0.194000	0.17425	GCA		0.527	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		8	201	0	0	0	1	0	8	201					T	43766195	C	T	43766195	3	4	435	1	0	0	0	0	1	0	0	0	12662	768	27	1	770	1	PSG9	19	43766195	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	186638	43766195	15362788	8323	29248											
LYPD3	27076	broad.mit.edu	37	chr19	43965686	43965686	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatcccgggaggcctcGtgttctactccctgtctcgg	3	12	10	16	3	3	0	1	0	2	0	8	1	6	1	4	3	1	1	4	3	1	2	rs34879346		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:43965686G>A	ENST00000244333.3	-	5	946	c.858C>T	c.(856-858)caC>caT	p.H286H		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	286					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GGGAGGCCTCGTGTTCTACTC	0.632																																						ENST00000244333.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11						c.(856-858)caC>caT		LY6/PLAUR domain containing 3							92	93	93					19																	43965686		2203	4300	6503	SO:0001819	synonymous_variant	27076					anchored to plasma membrane		g.chr19:43965686G>A	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.858C>T	19.37:g.43965686G>A							p.H286H	NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN			5	946	-		Prostate(69;0.0153)	286					Q9UJ74	Silent	SNP	ENST00000244333.3	37	c.858C>T	CCDS12620.1																																																																																				0.632	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		24	33	0	0	0	1	0	24	33					A	43965686	G	A	43965686	2	1	435	1	0	0	0	0	0	0	0	1	9111	1136	40	1		1	LYPD3	19	43965686	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	199491	43965686	15163297	8324	29249											
IRGQ	126298	broad.mit.edu	37	chr19	44096981	44096981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccaatccccctccacctgCgttctttaagctctcgccct	5	12	4	20	2	2	0	0	0	2	0	6	0	5	0	6	0	2	2	6	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44096981C>T	ENST00000602269.1	-	2	1254	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	IRGQ_ENST00000422989.1_Missense_Mutation_p.A357T|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Intron			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	357	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCTCCACCTGCGTTCTTTAAG	0.592																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(1069-1071)Gca>Aca		immunity-related GTPase family, Q							221	220	221					19																	44096981		2203	4300	6503	SO:0001583	missense	126298						protein binding	g.chr19:44096981C>T	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1069G>A	19.37:g.44096981C>T	ENSP00000472250:p.Ala357Thr					IRGQ_ENST00000602269.1_Missense_Mutation_p.A357T|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Intron	p.A357T	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			3	1224	-		Prostate(69;0.0199)	357					B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.1069G>A	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	4.084	0.013467	0.07959	.	.	ENSG00000167378	ENST00000422989	T	0.50548	0.74	3.75	-4.34	0.03666	.	2.497930	0.01532	N	0.018841	T	0.22781	0.0550	N	0.12182	0.205	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.05289	-1.0894	10	0.16420	T	0.52	-21.3881	0.8385	0.01145	0.2703:0.3586:0.126:0.2451	.	357	Q8WZA9	IRGQ_HUMAN	T	357	ENSP00000387535:A357T	ENSP00000387535:A357T	A	-	1	0	IRGQ	48788821	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	-0.019000	0.12546	-0.752000	0.04728	0.591000	0.81541	GCA		0.592	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		28	69	0	0	0	1	0	28	69					T	44096981	C	T	44096981	3	4	435	1	0	0	0	0	1	0	0	0	7839	768	27	1	806	1	IRGQ	19	44096981	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	131295	44096981	15032002	8325	29250											
IRGC	56269	broad.mit.edu	37	chr19	44223605	44223605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttgctcatccactcactgCgtggctaccaccgcagcttt	6	11	8	16	3	2	0	2	0	0	0	3	0	3	0	3	1	4	5	3	1	1	3	rs184064504		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44223605C>T	ENST00000244314.5	+	2	1094	c.895C>T	c.(895-897)Cgt>Tgt	p.R299C		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	299						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCACTCACTGCGTGGCTACCA	0.662																																					Colon(189;350 2037 11447 13433 38914)	ENST00000244314.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25						c.(895-897)Cgt>Tgt		immunity-related GTPase family, cinema							68	65	66					19																	44223605		2203	4299	6502	SO:0001583	missense	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223605C>T	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"immunity-related GTPase family, cinema 1"	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.895C>T	19.37:g.44223605C>T	ENSP00000244314:p.Arg299Cys						p.R299C	NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN			2	1094	+		Prostate(69;0.0435)	299					Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	c.895C>T	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037789	0.54896	.	.	ENSG00000124449	ENST00000244314	T	0.23950	1.88	4.79	2.3	0.28687	.	0.415828	0.21894	N	0.067548	T	0.31451	0.0797	L	0.34521	1.04	0.43426	D	0.995586	D	0.76494	0.999	P	0.62649	0.905	T	0.04825	-1.0924	10	0.66056	D	0.02	.	7.9247	0.29867	0.16:0.54:0.3:0.0	.	299	Q6NXR0	IIGP5_HUMAN	C	299	ENSP00000244314:R299C	ENSP00000244314:R299C	R	+	1	0	IRGC	48915445	0.000000	0.05858	1.000000	0.80357	0.722000	0.41435	-0.265000	0.08644	2.194000	0.70268	0.655000	0.94253	CGT		0.662	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		26	46	0	0	0	1	0	26	46					T	44223605	C	T	44223605	3	4	435	1	0	0	0	0	1	0	0	0	7838	768	27	1	897	1	IRGC	19	44223605	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	126624	44223605	14905378	8326	29251											
C19orf61	56006	broad.mit.edu	37	chr19	44241781	44241781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtctgtgaaccagtcctgGacaacaatcaccacatggca	13	7	9	12	0	2	1	1	1	1	0	3	2	3	2	3	3	2	1	3	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44241781G>A	ENST00000270066.6	-	9	1305	c.963C>T	c.(961-963)gtC>gtT	p.V321V	SMG9_ENST00000601170.1_Silent_p.V321V	NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	321					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|intracellular (GO:0005622)	identical protein binding (GO:0042802)			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						ACCAGTCCTGGACAACAATCA	0.572																																						ENST00000601170.1																			0				kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						c.(961-963)gtC>gtT		SMG9 nonsense mediated mRNA decay factor							133	102	113					19																	44241781		2203	4300	6503	SO:0001819	synonymous_variant	56006				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding	g.chr19:44241781G>A	BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771			25763	protein-coding gene	gene with protein product		613176	"chromosome 19 open reading frame 61", "smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C19orf61		11230166, 19417104	Standard	NM_019108		Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000270066.6:c.963C>T	19.37:g.44241781G>A						SMG9_ENST00000270066.6_Silent_p.V321V	p.V321V			Q9H0W8	SMG9_HUMAN			9	1277	-			321					O60429|Q9H9A9	Silent	SNP	ENST00000270066.6	37	c.963C>T	CCDS33043.2																																																																																				0.572	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317668.1	NM_019108		10	26	0	0	0	1	0	10	26					A	44241781	G	A	44241781	2	1	435	1	0	0	0	0	0	0	0	1	1943	1161	41	3		3	C19orf61	19	44241781	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18176	44241781	14887202	8327	29252											
LYPD5	284348	broad.mit.edu	37	chr19	44301832	44301832	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtggctgaagcactggTgaagggctgggtcatggatt	7	10	19	5	0	1	2	1	2	0	0	1	3	1	3	0	7	1	3	0	7	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44301832T>C	ENST00000377950.3	-	5	747	c.667A>G	c.(667-669)Acc>Gcc	p.T223A	LYPD5_ENST00000594013.1_Missense_Mutation_p.T180A|AC115522.3_ENST00000595680.1_lincRNA|LYPD5_ENST00000414615.2_Missense_Mutation_p.T180A	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	223						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				GAAGCACTGGTGAAGGGCTGG	0.657																																						ENST00000377950.3																			0				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8						c.(667-669)Acc>Gcc		LY6/PLAUR domain containing 5							132	118	123					19																	44301832		2203	4300	6503	SO:0001583	missense	284348					anchored to membrane|plasma membrane		g.chr19:44301832T>C	AK055031	CCDS12631.1, CCDS46096.1	19q13.31	2008-02-05				ENSG00000159871			26397	protein-coding gene	gene with protein product						12477932	Standard	NM_182573		Approved	FLJ30469	uc002oxm.4	Q6UWN5		ENST00000377950.3:c.667A>G	19.37:g.44301832T>C	ENSP00000367185:p.Thr223Ala					LYPD5_ENST00000414615.2_Missense_Mutation_p.T180A|LYPD5_ENST00000594013.1_Missense_Mutation_p.T180A	p.T223A	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN			5	747	-		Prostate(69;0.0352)	223					Q6PEX9|Q96DR2	Missense_Mutation	SNP	ENST00000377950.3	37	c.667A>G	CCDS46096.1	.	.	.	.	.	.	.	.	.	.	T	7.288	0.610431	0.14066	.	.	ENSG00000159871	ENST00000377950;ENST00000414615	T;T	0.23147	3.26;1.92	3.4	-0.279	0.12890	.	1.367370	0.05357	N	0.533049	T	0.16342	0.0393	L	0.27053	0.805	0.09310	N	1	B	0.19200	0.034	B	0.12156	0.007	T	0.26780	-1.0093	10	0.30078	T	0.28	-1.4734	4.0906	0.09968	0.0:0.2284:0.3941:0.3776	.	223	Q6UWN5	LYPD5_HUMAN	A	223;180	ENSP00000367185:T223A;ENSP00000408433:T180A	ENSP00000367185:T223A	T	-	1	0	LYPD5	48993672	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-2.209000	0.01228	-0.246000	0.09611	0.454000	0.30748	ACC		0.657	LYPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463611.1	NM_182573		10	19	0	0	0	1	0	10	19					C	44301832	T	C	44301832	3	2	435	1	0	0	0	0	1	0	0	0	9113	1696	59	4	92	4	LYPD5	19	44301832	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	60051	44301832	14827151	8328	29253											
ZNF45	7596	broad.mit.edu	37	chr19	44418988	44418988	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacttgaaaaccgacggaaGgcattatcacatttttcaca	15	10	7	9	2	2	2	2	1	0	1	2	4	2	3	1	2	1	1	1	2	4	4	rs541398617		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44418988G>T	ENST00000269973.5	-	10	1690	c.600C>A	c.(598-600)gcC>gcA	p.A200A	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.A200A	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	200					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ACCGACGGAAGGCATTATCAC	0.418																																						ENST00000269973.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(598-600)gcC>gcA		zinc finger protein 45							173	182	179					19																	44418988		2203	4300	6503	SO:0001819	synonymous_variant	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44418988G>T	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"Zinc fingers, C2H2-type", "-"	13111	protein-coding gene	gene with protein product		194554	"zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)", "zinc finger protein 13"	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.600C>A	19.37:g.44418988G>T						ZNF45_ENST00000589703.1_Silent_p.A200A|RP11-15A1.2_ENST00000586247.1_RNA	p.A200A	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN			10	1690	-			200					P17016|P78472|Q9P1U9	Silent	SNP	ENST00000269973.5	37	c.600C>A	CCDS12632.1																																																																																				0.418	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		56	104	1	0	2.23044e-30	1	2.49988e-30	56	104					T	44418988	G	T	44418988	2	4	435	1	0	0	0	0	0	0	0	1	17918	987	35	5		5	ZNF45	19	44418988	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	117156	44418988	14709995	8329	29254											
ZNF221	7638	broad.mit.edu	37	chr19	44470941	44470941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtgaagaatgtgggaaGggattttatacaaattcacg	16	11	11	3	1	1	2	1	1	0	1	1	4	1	4	0	2	1	0	0	2	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44470941G>T	ENST00000251269.5	+	6	1615	c.1287G>T	c.(1285-1287)aaG>aaT	p.K429N	ZNF221_ENST00000592350.1_Missense_Mutation_p.K429N|ZNF221_ENST00000587682.1_Missense_Mutation_p.K429N	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)				AATGTGGGAAGGGATTTTATA	0.418																																						ENST00000251269.5																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1285-1287)aaG>aaT		zinc finger protein 221							71	72	72					19																	44470941		2203	4300	6503	SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44470941G>T	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"Zinc fingers, C2H2-type", "-"	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1287G>T	19.37:g.44470941G>T	ENSP00000251269:p.Lys429Asn					ZNF221_ENST00000587682.1_Missense_Mutation_p.K429N|ZNF221_ENST00000592350.1_Missense_Mutation_p.K429N	p.K429N	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN			6	1615	+		Prostate(69;0.0352)	429					B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	c.1287G>T	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	g	18.64	3.666479	0.67814	.	.	ENSG00000159905	ENST00000251269	T	0.27890	1.64	2.33	-2.08	0.07254	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53834	0.1821	M	0.91459	3.21	0.09310	N	0.999991	D	0.76494	0.999	D	0.72982	0.979	T	0.44498	-0.9324	9	0.87932	D	0	.	3.2952	0.06964	0.5026:0.0:0.3042:0.1933	.	429	Q9UK13	ZN221_HUMAN	N	429	ENSP00000251269:K429N	ENSP00000251269:K429N	K	+	3	2	ZNF221	49162781	0.010000	0.17322	0.004000	0.12327	0.961000	0.63080	0.050000	0.14120	-0.519000	0.06444	0.313000	0.20887	AAG		0.418	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			24	33	1	0	1.85244e-09	1	1.96811e-09	24	33					T	44470941	G	T	44470941	3	4	435	1	0	0	0	0	1	0	0	0	17772	991	35	5	1301	5	ZNF221	19	44470941	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	51953	44470941	14658042	8330	29255											
ZNF230	7773	broad.mit.edu	37	chr19	44514886	44514886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgtgagcaatgtgggaaagGcttcagatgtagagcgatac	13	9	14	5	1	1	3	1	1	0	2	1	5	1	4	0	2	3	3	0	2	4	3	rs151068123		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44514886G>A	ENST00000429154.2	+	5	923	c.695G>A	c.(694-696)gGc>gAc	p.G232D		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TGTGGGAAAGGCTTCAGATGT	0.443													G|||	1	0.000199681	8e-04	0	5008	,	,		22507	0		0	False		,,,				2504	0				GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(694-696)gGc>gAc		zinc finger protein 230		G	ASP/GLY	2,4404	4.2+/-10.8	0,2,2201	113	115	114		695	-5.3	0	19	dbSNP_134	114	0,8600		0,0,4300	no	missense	ZNF230	NM_006300.3	94	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	232/475	44514886	2,13004	2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44514886G>A	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"Zinc fingers, C2H2-type", "-"	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.695G>A	19.37:g.44514886G>A	ENSP00000409318:p.Gly232Asp						p.G232D	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN			5	923	+		Prostate(69;0.0352)	232					O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.695G>A	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886605	0.33348	4.54E-4	0.0	ENSG00000159882	ENST00000429154	T	0.18016	2.24	2.67	-5.34	0.02705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21145	0.0509	L	0.33710	1.025	0.21499	N	0.999661	D	0.57571	0.98	P	0.62184	0.899	T	0.19031	-1.0318	9	0.62326	D	0.03	.	7.5139	0.27590	0.0:0.2557:0.3547:0.3896	.	232	Q9UIE0	ZN230_HUMAN	D	232	ENSP00000409318:G232D	ENSP00000409318:G232D	G	+	2	0	ZNF230	49206726	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-2.740000	0.00799	-0.838000	0.04218	-1.977000	0.00459	GGC		0.443	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			33	54	0	0	0	1	0	33	54					A	44514886	G	A	44514886	3	1	435	1	0	0	0	0	1	0	0	0	17781	1203	42	3	709	3	ZNF230	19	44514886	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43945	44514886	14614097	8331	29256											
ZNF224	7767	broad.mit.edu	37	chr19	44610888	44610888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttacatctcagcccttcGtattcatcagagagtccaca	10	13	6	12	1	3	1	3	0	1	1	6	2	4	1	2	0	2	2	2	0	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44610888G>A	ENST00000336976.6	+	6	829	c.575G>A	c.(574-576)cGt>cAt	p.R192H	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	192					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TCAGCCCTTCGTATTCATCAG	0.418																																						ENST00000336976.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						c.(574-576)cGt>cAt		zinc finger protein 224							132	132	132					19																	44610888		2203	4300	6503	SO:0001583	missense	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44610888G>A	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"Zinc fingers, C2H2-type", "-"	13017	protein-coding gene	gene with protein product		194555	"zinc finger protein 255", "zinc finger protein 27"	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.575G>A	19.37:g.44610888G>A	ENSP00000337368:p.Arg192His					AC084219.4_ENST00000592946.1_RNA	p.R192H	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN			6	829	+		Prostate(69;0.0435)	192					A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	c.575G>A	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	g	10.20	1.285245	0.23478	.	.	ENSG00000186019	ENST00000336976	T	0.22539	1.95	1.85	-3.7	0.04437	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11495	0.0280	L	0.35249	1.045	0.09310	N	1	B	0.24651	0.108	B	0.16722	0.016	T	0.27123	-1.0083	9	0.32370	T	0.25	.	3.6022	0.08028	0.235:0.0:0.3141:0.4509	.	192	Q9NZL3	ZN224_HUMAN	H	192	ENSP00000337368:R192H	ENSP00000337368:R192H	R	+	2	0	ZNF224	49302728	0.000000	0.05858	0.000000	0.03702	0.665000	0.39181	-8.471000	0.00020	-0.968000	0.03578	-0.293000	0.09583	CGT		0.418	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		73	91	0	0	0	1	0	73	91					A	44610888	G	A	44610888	3	1	435	1	0	0	0	0	1	0	0	0	17775	1145	40	1	589	1	ZNF224	19	44610888	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	96002	44610888	14518095	8332	29257											
ZNF225	7768	broad.mit.edu	37	chr19	44635250	44635250	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcctttagtgatgtctcCgtccttgatcttcatcaaca	9	15	6	11	1	4	2	2	2	2	0	7	2	6	2	3	0	1	0	3	0	3	4	rs201221735		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44635250C>T	ENST00000262894.6	+	5	763	c.483C>T	c.(481-483)tcC>tcT	p.S161S	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Silent_p.S161S	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GTGATGTCTCCGTCCTTGATC	0.413													C|||	1	0.000199681	0	0	5008	,	,		23490	0.001		0	False		,,,				2504	0					ENST00000262894.6																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16						c.(481-483)tcC>tcT		zinc finger protein 225							110	110	110					19																	44635250		2032	4213	6245	SO:0001819	synonymous_variant	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44635250C>T	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.483C>T	19.37:g.44635250C>T						ZNF225_ENST00000590612.1_Silent_p.S161S|ZNF225_ENST00000592780.1_3'UTR	p.S161S	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN			5	763	+		Prostate(69;0.0352)|all_neural(266;0.202)	161					A8K8S2|Q53F12|Q9NS46|Q9UID8	Silent	SNP	ENST00000262894.6	37	c.483C>T	CCDS46100.1																																																																																				0.413	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			27	33	0	0	0	1	0	27	33					T	44635250	C	T	44635250	2	4	435	1	0	0	0	0	0	0	0	1	17776	639	23	2		2	ZNF225	19	44635250	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	24362	44635250	14493733	8333	29258											
ZNF234	10780	broad.mit.edu	37	chr19	44661065	44661065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtggtaagaacttccgtcGtagatcagcacttaataatc	13	12	8	8	2	1	2	1	0	0	2	4	2	2	2	1	1	2	3	1	1	5	5	rs374520249		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44661065G>A	ENST00000426739.2	+	6	1154	c.896G>A	c.(895-897)cGt>cAt	p.R299H	ZNF234_ENST00000592437.1_Missense_Mutation_p.R299H	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AACTTCCGTCGTAGATCAGCA	0.428																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(895-897)cGt>cAt		zinc finger protein 234		G	HIS/ARG,HIS/ARG	0,4392		0,0,2196	134	143	140		896,896	0.1	0	19		140	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF234	NM_001144824.1,NM_006630.2	29,29	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	299/701,299/701	44661065	1,12991	2196	4300	6496	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661065G>A	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.896G>A	19.37:g.44661065G>A	ENSP00000400878:p.Arg299His					ZNF234_ENST00000592437.1_Missense_Mutation_p.R299H	p.R299H	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	1154	+		Prostate(69;0.0435)	299					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.896G>A	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255619	0.39896	0.0	1.16E-4	ENSG00000167380	ENST00000426739	T	0.07327	3.2	3.98	0.114	0.14639	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12902	0.0313	L	0.41124	1.26	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.31280	-0.9949	9	0.15066	T	0.55	.	2.6012	0.04867	0.2909:0.0:0.3434:0.3657	.	299	Q14588	ZN234_HUMAN	H	299	ENSP00000400878:R299H	ENSP00000400878:R299H	R	+	2	0	ZNF226	49352905	0.000000	0.05858	0.000000	0.03702	0.972000	0.66771	-1.755000	0.01814	0.397000	0.25310	0.586000	0.80456	CGT		0.428	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			35	68	0	0	0	1	0	35	68					A	44661065	G	A	44661065	3	1	435	1	0	0	0	0	1	0	0	0	17784	1145	40	1	910	1	ZNF234	19	44661065	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25815	44661065	14467918	8334	29259											
ZNF226	7769	broad.mit.edu	37	chr19	44680182	44680182	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcgtaccagtgtaatgAgtgtaaaaaacccttcagtg	15	10	9	7	1	1	1	1	1	0	0	2	2	1	1	2	0	2	3	2	0	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44680182A>G	ENST00000590089.1	+	7	1134	c.767A>G	c.(766-768)gAg>gGg	p.E256G	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.E256G|ZNF226_ENST00000337433.5_Missense_Mutation_p.E256G			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				CAGTGTAATGAGTGTAAAAAA	0.383																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(766-768)gAg>gGg		zinc finger protein 226							78	76	76					19																	44680182		1954	4159	6113	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44680182A>G	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"Zinc fingers, C2H2-type", "-"	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.767A>G	19.37:g.44680182A>G	ENSP00000465121:p.Glu256Gly					ZNF226_ENST00000337433.5_Missense_Mutation_p.E256G|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.E256G	p.E256G			Q9NYT6	ZN226_HUMAN			7	1134	+		Prostate(69;0.0352)|all_neural(266;0.202)	256					Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.767A>G	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	A	5.161	0.215222	0.09810	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.50548	0.74;0.74	3.67	1.43	0.22495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.543741	0.13834	N	0.359502	T	0.42630	0.1211	M	0.73372	2.23	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.41215	-0.9521	10	0.52906	T	0.07	.	4.9584	0.14054	0.5216:0.1627:0.0:0.3157	.	256	Q9NYT6	ZN226_HUMAN	G	256	ENSP00000336719:E256G;ENSP00000393265:E256G	ENSP00000336719:E256G	E	+	2	0	ZNF226	49372022	0.000000	0.05858	0.001000	0.08648	0.444000	0.32077	-0.065000	0.11617	0.107000	0.17824	-0.301000	0.09380	GAG		0.383	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			14	29	0	0	0	1	0	14	29					G	44680182	A	G	44680182	3	3	435	1	0	0	0	0	1	0	0	0	17777	304	11	4	835	4	ZNF226	19	44680182	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	19117	44680182	14448801	8335	29260											
ZNF227	7770	broad.mit.edu	37	chr19	44740962	44740962	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttacatatcatcagaaagtCcatactggtaaaaagcttta	16	12	5	8	0	2	1	2	0	0	1	3	1	3	1	1	1	3	2	1	1	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44740962C>T	ENST00000313040.7	+	6	2584	c.2379C>T	c.(2377-2379)gtC>gtT	p.V793V	ZNF227_ENST00000589005.1_Silent_p.V742V|ZNF227_ENST00000391961.2_Silent_p.V742V|ZNF235_ENST00000589799.1_Intron	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	793					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				ATCAGAAAGTCCATACTGGTA	0.403																																						ENST00000313040.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24						c.(2377-2379)gtC>gtT		zinc finger protein 227							42	39	40					19																	44740962		2203	4300	6503	SO:0001819	synonymous_variant	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44740962C>T	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.2379C>T	19.37:g.44740962C>T						ZNF235_ENST00000589799.1_Intron|ZNF227_ENST00000391961.2_Silent_p.V742V|ZNF227_ENST00000589005.1_Silent_p.V742V	p.V793V	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN			6	2584	+		Prostate(69;0.0435)	793					B3KRU7|B7Z5P9	Silent	SNP	ENST00000313040.7	37	c.2379C>T	CCDS12636.1																																																																																				0.403	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		17	30	0	0	0	1	0	17	30					T	44740962	C	T	44740962	2	4	435	1	0	0	0	0	0	0	0	1	17778	842	30	3		3	ZNF227	19	44740962	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	60780	44740962	14388021	8336	29261											
ZNF233	353355	broad.mit.edu	37	chr19	44777926	44777926	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagagaagttgtgtacAtgtggcaggtgtgggaaggg	10	8	19	4	0	0	1	0	0	0	1	0	4	0	3	1	5	1	3	1	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44777926A>G	ENST00000391958.2	+	5	1240	c.1113A>G	c.(1111-1113)acA>acG	p.T371T	ZNF233_ENST00000334152.1_Silent_p.T353T|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)				AGTTGTGTACATGTGGCAGGT	0.473																																						ENST00000391958.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(1111-1113)acA>acG		zinc finger protein 233							103	105	104					19																	44777926		2203	4300	6503	SO:0001819	synonymous_variant	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44777926A>G	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"Zinc fingers, C2H2-type", "-"	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1113A>G	19.37:g.44777926A>G						ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.T353T|ZNF235_ENST00000589799.1_Intron	p.T371T	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN			5	1240	+		Prostate(69;0.0435)|all_neural(266;0.226)	371					B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	37	c.1113A>G	CCDS33047.1																																																																																				0.473	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		21	23	0	0	0	1	0	21	23					G	44777926	A	G	44777926	2	3	435	1	0	0	0	0	0	0	0	1	17783	204	8	4		4	ZNF233	19	44777926	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	36964	44777926	14351057	8337	29262											
ZFP112	7771	broad.mit.edu	37	chr19	44831640	44831640	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgatgaagggtagtcCttaccatagtcttcgctttt	7	17	8	9	1	2	2	0	2	2	0	5	2	3	2	2	1	1	2	2	1	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44831640C>T	ENST00000337401.4	-	5	2776	c.2688G>A	c.(2686-2688)aaG>aaA	p.K896K	ZNF112_ENST00000354340.4_Silent_p.K890K|ZNF112_ENST00000536500.1_Silent_p.K913K	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	896					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AAGGGTAGTCCTTACCATAGT	0.393																																						ENST00000354340.4																			0											c.(2668-2670)aaG>aaA		zinc finger protein 112							66	63	64					19																	44831640		2203	4299	6502	SO:0001819	synonymous_variant	7665							g.chr19:44831640C>T	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2688G>A	19.37:g.44831640C>T						ZNF112_ENST00000337401.4_Silent_p.K896K|ZNF112_ENST00000536500.1_Silent_p.K913K	p.K890K	NM_013380.3	NP_037512.3					4	2721	-								A4FU53|Q9HCA7	Silent	SNP	ENST00000337401.4	37	c.2670G>A	CCDS54276.1																																																																																				0.393	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		20	35	0	0	0	1	0	20	35					T	44831640	C	T	44831640	2	4	435	1	0	0	0	0	0	0	0	1	17635	680	24	3		3	ZFP112	19	44831640	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	53714	44831640	14297343	8338	29263											
ZFP112	7771	broad.mit.edu	37	chr19	44833243	44833243	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaggctttctcataaatgTtgtgcctataggacatctca	11	14	8	8	0	2	1	2	1	2	0	4	2	2	2	1	2	1	2	1	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44833243T>C	ENST00000337401.4	-	5	1173	c.1085A>G	c.(1084-1086)aAc>aGc	p.N362S	ZNF112_ENST00000354340.4_Missense_Mutation_p.N356S|ZNF112_ENST00000536500.1_Missense_Mutation_p.N379S	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CTCATAAATGTTGTGCCTATA	0.388																																						ENST00000354340.4																			0											c.(1066-1068)aAc>aGc		zinc finger protein 112							105	90	95					19																	44833243		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44833243T>C	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1085A>G	19.37:g.44833243T>C	ENSP00000337081:p.Asn362Ser					ZNF112_ENST00000337401.4_Missense_Mutation_p.N362S|ZNF112_ENST00000536500.1_Missense_Mutation_p.N379S	p.N356S	NM_013380.3	NP_037512.3					4	1118	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.1067A>G	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	8.156	0.788371	0.16258	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.14640	2.49;2.49;2.49	4.71	-4.54	0.03452	.	0.477822	0.15538	N	0.257120	T	0.06554	0.0168	N	0.17631	0.505	0.09310	N	1	B;B;B	0.11235	0.003;0.004;0.003	B;B;B	0.08055	0.001;0.003;0.001	T	0.36065	-0.9763	10	0.18710	T	0.47	-1.1802	9.4903	0.38955	0.0:0.4083:0.4217:0.1699	.	361;379;362	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	S	362;362;356;379;361	ENSP00000337081:N362S;ENSP00000346305:N356S;ENSP00000441990:N379S	ENSP00000253426:N361S	N	-	2	0	ZNF285	49525083	0.000000	0.05858	0.000000	0.03702	0.419000	0.31324	-1.141000	0.03207	-1.204000	0.02648	0.459000	0.35465	AAC		0.388	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		16	56	0	0	0	1	0	16	56					C	44833243	T	C	44833243	3	2	435	1	0	0	0	0	1	0	0	0	17635	1725	60	4	1660	4	ZFP112	19	44833243	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1603	44833243	14295740	8339	29264											
ZNF180	7733	broad.mit.edu	37	chr19	44980970	44980970	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacactgattacattcataCggtttttccccagtgtgaat	10	14	6	11	1	1	2	1	2	0	0	2	2	2	2	3	1	2	1	3	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44980970C>T	ENST00000221327.4	-	5	2009	c.1728G>A	c.(1726-1728)ccG>ccA	p.P576P	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Silent_p.P551P|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000592529.1_Silent_p.P549P	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TACATTCATACGGTTTTTCCC	0.403																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1726-1728)ccG>ccA		zinc finger protein 180							104	104	104					19																	44980970		2203	4300	6503	SO:0001819	synonymous_variant	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44980970C>T	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1728G>A	19.37:g.44980970C>T						ZNF180_ENST00000391956.4_Silent_p.P551P|ZNF180_ENST00000592529.1_Silent_p.P549P	p.P576P	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	2009	-		Prostate(69;0.0435)	576					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Silent	SNP	ENST00000221327.4	37	c.1728G>A	CCDS12639.1																																																																																				0.403	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		40	55	0	0	0	1	0	40	55					T	44980970	C	T	44980970	2	4	435	1	0	0	0	0	0	0	0	1	17745	523	19	1		1	ZNF180	19	44980970	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	147727	44980970	14148013	8340	29265											
ZNF180	7733	broad.mit.edu	37	chr19	44981523	44981523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaacaaggtgcgagctcCggctgaaggattttccacat	11	8	13	9	2	0	1	0	1	0	0	2	4	2	3	2	4	3	2	2	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44981523C>T	ENST00000221327.4	-	5	1456	c.1175G>A	c.(1174-1176)cGg>cAg	p.R392Q	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Missense_Mutation_p.R367Q|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000592529.1_Missense_Mutation_p.R365Q	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GTGCGAGCTCCGGCTGAAGGA	0.458																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1174-1176)cGg>cAg		zinc finger protein 180							67	69	68					19																	44981523		2203	4300	6503	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981523C>T	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1175G>A	19.37:g.44981523C>T	ENSP00000221327:p.Arg392Gln					ZNF180_ENST00000391956.4_Missense_Mutation_p.R367Q|ZNF180_ENST00000592529.1_Missense_Mutation_p.R365Q	p.R392Q	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	1456	-		Prostate(69;0.0435)	392					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1175G>A	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	C	3.482	-0.105750	0.06924	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.18502	2.21;2.21	5.47	3.25	0.37280	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38897	N	0.001539	T	0.06050	0.0157	L	0.27944	0.81	0.09310	N	0.999999	P;P;P	0.39181	0.611;0.663;0.663	B;B;B	0.23716	0.029;0.048;0.048	T	0.18618	-1.0331	10	0.07813	T	0.8	-19.4306	2.8875	0.05665	0.1463:0.554:0.1417:0.1579	.	367;391;392	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	Q	392;367	ENSP00000221327:R392Q;ENSP00000375818:R367Q	ENSP00000221327:R392Q	R	-	2	0	ZNF180	49673363	0.000000	0.05858	0.997000	0.53966	0.001000	0.01503	-0.063000	0.11655	1.292000	0.44672	-0.150000	0.13652	CGG		0.458	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		26	65	0	0	0	1	0	26	65					T	44981523	C	T	44981523	3	4	435	1	0	0	0	0	1	0	0	0	17745	652	23	2	907	2	ZNF180	19	44981523	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	553	44981523	14147460	8341	29266											
CEACAM20	125931	broad.mit.edu	37	chr19	45026872	45026872	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtcatgctggagcccTccatcacctcaaccacctcc	10	7	7	17	0	3	1	3	0	0	1	5	2	5	2	6	2	3	1	6	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45026872T>C	ENST00000454753.1	-	0	820							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GCTGGAGCCCTCCATCACCTC	0.498																																						ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20							96	105	102					19																	45026872		2127	4240	6367			125931					integral to membrane		g.chr19:45026872T>C	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45026872T>C										Q6UY09	CEA20_HUMAN			0	820	-		Prostate(69;0.0352)							RNA	SNP	ENST00000454753.1	37																																																																																						0.498	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		6	4	0	0	0	1	0	6	4					C	45026872	T	C	45026872	1	2	435	0	1	0	0	0	0	0	0	0	3191	1551	54	4		4	CEACAM20	19	45026872	RNA	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	45349	45026872	14102111	8342	29267											
CEACAM16	388551	broad.mit.edu	37	chr19	45207440	45207440	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcgctctccgcctgggcCtgtcccctgacggccgggtg	1	8	14	18	5	1	1	0	1	1	0	4	1	2	1	7	3	0	1	7	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45207440C>T	ENST00000405314.2	+	3	632	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	CEACAM16_ENST00000587331.1_Silent_p.L179L|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	179	Ig-like C2-type 1.				sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				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)				CCGCCTGGGCCTGTCCCCTGA	0.706																																						ENST00000587331.1																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(535-537)Ctg>Ttg		carcinoembryonic antigen-related cell adhesion molecule 16							12	16	15					19																	45207440		1940	4098	6038	SO:0001819	synonymous_variant	388551							g.chr19:45207440C>T		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.535C>T	19.37:g.45207440C>T						CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Silent_p.L179L	p.L179L	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN			4	750	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	179					A7LI12	Silent	SNP	ENST00000405314.2	37	c.535C>T	CCDS54278.1																																																																																				0.706	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		3	3	0	0	0	1	0	3	3					T	45207440	C	T	45207440	2	4	435	1	0	0	0	0	0	0	0	1	3188	680	24	3		3	CEACAM16	19	45207440	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	180568	45207440	13921543	8343	29268											
CBLC	23624	broad.mit.edu	37	chr19	45284308	45284308	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggaaagttgcggagcccGgtgagtaagcccttgtcctc	8	8	15	10	2	0	1	0	1	0	0	2	4	1	3	3	3	3	2	3	3	2	3	rs201807125		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45284308G>A	ENST00000270279.3	+	2	563	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	CBLC_ENST00000341505.4_Splice_Site_p.R167Q	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	167	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|EF-hand-like.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				TGCGGAGCCCGGTGAGTAAGC	0.652			M		AML								G|||	1	0.000199681	0	0	5008	,	,		17576	0.001		0	False		,,,				2504	0					ENST00000270279.3				Rec	yes		19	19q13.2	23624	M	Cas-Br-M (murine) ecotropic retroviral transforming sequence c			L			AML		0				breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.e2+1		Cbl proto-oncogene C, E3 ubiquitin protein ligase		G	GLN/ARG,GLN/ARG	1,4405		0,1,2202	45	46	46		500,500	3.9	1	19		46	0,8600		0,0,4300	yes	missense-near-splice,missense-near-splice	CBLC	NM_001130852.1,NM_012116.3	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	167/429,167/475	45284308	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	23624				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	g.chr19:45284308G>A	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"RING-type (C3HC4) zinc fingers"	15961	protein-coding gene	gene with protein product		608453	"Cas-Br-M (murine) ectropic retroviral transforming sequence c", "Cas-Br-M (murine) ecotropic retroviral transforming sequence c"			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.500+1G>A	19.37:g.45284308G>A						CBLC_ENST00000341505.4_Splice_Site_p.R167_splice	p.R167_splice	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN			2	563	+	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)	167			Cbl-PTB.|EF-hand-like.		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Splice_Site	SNP	ENST00000270279.3	37	c.500_splice	CCDS12643.1	.	.	.	.	.	.	.	.	.	.	.	15.03	2.710769	0.48517	2.27E-4	0.0	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.87334	-2.24;-2.24	4.98	3.87	0.44632	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.343652	0.23256	N	0.050191	D	0.90424	0.7002	M	0.66939	2.045	0.35579	D	0.806145	D;D	0.89917	0.999;1.0	D;D	0.71656	0.922;0.974	D	0.90477	0.4457	10	0.42905	T	0.14	-12.2086	7.0034	0.24823	0.2266:0.0:0.7734:0.0	.	167;167	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	Q	167	ENSP00000270279:R167Q;ENSP00000340250:R167Q	ENSP00000270279:R167Q	R	+	2	0	CBLC	49976148	1.000000	0.71417	0.985000	0.45067	0.125000	0.20455	3.382000	0.52463	0.965000	0.38133	0.491000	0.48974	CGG		0.652	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116	Missense_Mutation	5	15	0	0	0	1	0	5	15					A	45284308	G	A	45284308	5	1	435	1	0	0	0	0	0	0	1	0	2702	1130	39	2	506	2	CBLC	19	45284308	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	76868	45284308	13844675	8344	29269											
PVRL2	5819	broad.mit.edu	37	chr19	45368708	45368708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgccttccaccctaagatggGtcccagcttccccagcccga	7	7	8	19	2	0	1	0	0	0	1	3	2	3	1	7	1	2	1	7	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45368708G>A	ENST00000252483.5	+	2	269	c.269G>A	c.(268-270)gGt>gAt	p.G90D	PVRL2_ENST00000252485.4_Missense_Mutation_p.G90D	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	90	Ig-like V-type.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	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)		CCTAAGATGGGTCCCAGCTTC	0.637																																						ENST00000252483.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(268-270)gGt>gAt		poliovirus receptor-related 2 (herpesvirus entry mediator B)							56	48	51					19																	45368708		2203	4300	6503	SO:0001583	missense	5819				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	g.chr19:45368708G>A	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.269G>A	19.37:g.45368708G>A	ENSP00000252483:p.Gly90Asp					PVRL2_ENST00000252485.4_Missense_Mutation_p.G90D	p.G90D	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	2	269	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	90			Ig-like V-type.		A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	c.269G>A	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331754	0.81801	.	.	ENSG00000130202	ENST00000252483;ENST00000252485	T;T	0.65916	-0.18;-0.18	4.74	4.74	0.60224	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000039	T	0.80549	0.4644	M	0.87682	2.9	0.32537	N	0.534216	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.986	D	0.85895	0.1431	10	0.87932	D	0	.	13.41	0.60938	0.0:0.0:1.0:0.0	.	90;90	Q92692;Q92692-2	PVRL2_HUMAN;.	D	90	ENSP00000252483:G90D;ENSP00000252485:G90D	ENSP00000252483:G90D	G	+	2	0	PVRL2	50060548	1.000000	0.71417	0.146000	0.22360	0.441000	0.31987	4.520000	0.60524	2.625000	0.88918	0.542000	0.68232	GGT		0.637	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		4	10	0	0	0	1	0	4	10					A	45368708	G	A	45368708	3	1	435	1	0	0	0	0	1	0	0	0	12840	1261	44	3	275	3	PVRL2	19	45368708	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	84400	45368708	13760275	8345	29270											
APOE	348	broad.mit.edu	37	chr19	45411122	45411122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggaactggcactgggtcGcttttgggattacctgcgct	5	12	14	10	2	0	0	0	0	0	0	1	2	0	2	1	4	3	3	1	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45411122G>A	ENST00000252486.4	+	3	260	c.149G>A	c.(148-150)cGc>cAc	p.R50H		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	50					aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	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)	GCACTGGGTCGCTTTTGGGAT	0.652																																						ENST00000252486.4																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(148-150)cGc>cAc		apolipoprotein E	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						44	42	43					19																	45411122		2203	4300	6503	SO:0001583	missense	348				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	g.chr19:45411122G>A	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"Apolipoproteins"	613	protein-coding gene	gene with protein product		107741	"Alzheimer disease 2 (APOE*E4-associated, late onset)"	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.149G>A	19.37:g.45411122G>A	ENSP00000252486:p.Arg50His						p.R50H	NM_000041.2	NP_000032.1	P02649	APOE_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	3	260	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	50					B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	SNP	ENST00000252486.4	37	c.149G>A	CCDS12647.1	.	.	.	.	.	.	.	.	.	.	g	14.97	2.693536	0.48202	.	.	ENSG00000130203	ENST00000252486;ENST00000446996;ENST00000434152;ENST00000425718	D;D;D	0.82081	-1.57;-1.57;-1.57	4.85	2.71	0.32032	Apolipoprotein/apolipophorin (1);	0.115026	0.39615	N	0.001311	D	0.89842	0.6832	M	0.85373	2.75	0.32725	N	0.509767	D	0.89917	1.0	D	0.87578	0.998	D	0.89739	0.3932	10	0.56958	D	0.05	0.3621	7.974	0.30145	0.1919:0.0:0.8081:0.0	.	50	P02649	APOE_HUMAN	H	50;50;95;50	ENSP00000252486:R50H;ENSP00000413135:R50H;ENSP00000410423:R50H	ENSP00000252486:R50H	R	+	2	0	APOE	50102962	0.985000	0.35326	0.899000	0.35326	0.242000	0.25591	1.467000	0.35321	0.590000	0.29694	-0.215000	0.12644	CGC		0.652	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		14	12	0	0	0	1	0	14	12					A	45411122	G	A	45411122	3	1	435	1	0	0	0	0	1	0	0	0	802	1087	38	1	155	1	APOE	19	45411122	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42414	45411122	13717861	8346	29271											
APOC1	341	broad.mit.edu	37	chr19	45419502	45419502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgccttggataagctgaaGgagtttggaaacacactgga	13	9	13	6	0	0	1	0	1	0	0	0	5	0	5	1	4	3	2	1	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45419502G>T	ENST00000588750.1	+	4	439	c.114G>T	c.(112-114)aaG>aaT	p.K38N	APOC1_ENST00000586638.1_Missense_Mutation_p.K38N|APOC1_ENST00000588802.1_Missense_Mutation_p.K38N|APOC1_ENST00000589781.1_Intron|APOC1_ENST00000592885.1_Missense_Mutation_p.K38N|APOC1_ENST00000252491.4_Missense_Mutation_p.K38N			P02654	APOC1_HUMAN	apolipoprotein C-I	38					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phosphatidylcholine catabolic process (GO:0010900)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|plasma lipoprotein particle remodeling (GO:0034369)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|regulation of cholesterol transport (GO:0032374)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)|very-low-density lipoprotein particle clearance (GO:0034447)	chylomicron (GO:0042627)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	fatty acid binding (GO:0005504)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipase inhibitor activity (GO:0004859)			cervix(1)|large_intestine(1)|lung(2)	4	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)		ATAAGCTGAAGGAGTTTGGAA	0.532																																						ENST00000588750.1																			0				cervix(1)|large_intestine(1)|lung(2)	4						c.(112-114)aaG>aaT		apolipoprotein C-I							78	75	76					19																	45419502		2203	4300	6503	SO:0001583	missense	341				cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity	g.chr19:45419502G>T	X00570	CCDS12648.1	19q13.2	2013-01-24				ENSG00000130208		"Apolipoproteins"	607	protein-coding gene	gene with protein product		107710					Standard	NM_001645		Approved		uc002pae.1	P02654		ENST00000588750.1:c.114G>T	19.37:g.45419502G>T	ENSP00000465356:p.Lys38Asn					APOC1_ENST00000586638.1_Missense_Mutation_p.K38N|APOC1_ENST00000252491.4_Missense_Mutation_p.K38N|APOC1_ENST00000588802.1_Missense_Mutation_p.K38N|APOC1_ENST00000592885.1_Missense_Mutation_p.K38N|APOC1_ENST00000589781.1_Intron	p.K38N			P02654	APOC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	4	439	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	38					B2R526|Q6IB97	Missense_Mutation	SNP	ENST00000588750.1	37	c.114G>T	CCDS12648.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386374	0.61956	.	.	ENSG00000130208	ENST00000252491	T	0.55234	0.53	4.26	3.19	0.36642	.	0.000000	0.45361	D	0.000368	T	0.66665	0.2812	.	.	.	0.28298	N	0.923235	D	0.89917	1.0	D	0.77557	0.99	T	0.59679	-0.7409	9	0.59425	D	0.04	-22.9895	8.511	0.33217	0.1093:0.0:0.8907:0.0	.	38	P02654	APOC1_HUMAN	N	38	ENSP00000252491:K38N	ENSP00000252491:K38N	K	+	3	2	APOC1	50111342	0.055000	0.20627	0.273000	0.24645	0.303000	0.27691	0.722000	0.25925	1.123000	0.41961	0.555000	0.69702	AAG		0.532	APOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453245.1			15	29	1	0	3.8784e-16	1	4.25337e-16	15	29					T	45419502	G	T	45419502	3	4	435	1	0	0	0	0	1	0	0	0	797	991	35	5	120	5	APOC1	19	45419502	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8380	45419502	13709481	8347	29272											
CLPTM1	1209	broad.mit.edu	37	chr19	45490618	45490618	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccagagcaccaagtcGccctggaacttcctgggtga	8	7	12	14	1	0	2	0	1	0	1	2	3	1	3	4	2	3	2	4	2	2	1	rs573473703		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45490618G>A	ENST00000337392.5	+	8	1125	c.975G>A	c.(973-975)tcG>tcA	p.S325S	CLPTM1_ENST00000541297.2_Silent_p.S311S|CLPTM1_ENST00000546079.1_Silent_p.S223S|CLPTM1_ENST00000589158.1_3'UTR	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	325					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GCACCAAGTCGCCCTGGAACT	0.642																																						ENST00000541297.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(931-933)tcG>tcA		cleft lip and palate associated transmembrane protein 1							71	68	69					19																	45490618		2203	4300	6503	SO:0001819	synonymous_variant	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45490618G>A	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.975G>A	19.37:g.45490618G>A						CLPTM1_ENST00000546079.1_Silent_p.S223S|CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000337392.5_Silent_p.S325S	p.S311S			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	8	1398	+		all_neural(266;0.224)|Ovarian(192;0.231)	325					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP	ENST00000337392.5	37	c.933G>A	CCDS12651.1																																																																																				0.642	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		24	17	0	0	0	1	0	24	17					A	45490618	G	A	45490618	2	1	435	1	0	0	0	0	0	0	0	1	3554	1074	38	1		1	CLPTM1	19	45490618	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	71116	45490618	13638365	8348	29273											
RELB	5971	broad.mit.edu	37	chr19	45515271	45515271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggcgaggggctgccaCgcctggtgtctcgcggggct	2	6	19	14	5	1	0	0	0	1	0	2	1	1	0	3	6	1	2	3	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45515271C>T	ENST00000221452.8	+	4	391	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	RELB_ENST00000540120.1_Missense_Mutation_p.R81C|RELB_ENST00000505236.1_Missense_Mutation_p.R78C	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	81					antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GGGGCTGCCACGCCTGGTGTC	0.711																																						ENST00000221452.8																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12						c.(241-243)Cgc>Tgc		v-rel avian reticuloendotheliosis viral oncogene homolog B							7	8	8					19																	45515271		1773	3846	5619	SO:0001583	missense	5971					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:45515271C>T	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.241C>T	19.37:g.45515271C>T	ENSP00000221452:p.Arg81Cys					RELB_ENST00000540120.1_Missense_Mutation_p.R81C|RELB_ENST00000505236.1_Missense_Mutation_p.R78C	p.R81C	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00986)	4	391	+		Ovarian(192;0.0728)|all_neural(266;0.112)	81					Q6GTX7|Q9UEI7	Missense_Mutation	SNP	ENST00000221452.8	37	c.241C>T	CCDS46110.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829676	0.32329	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.52754	0.66;0.66;0.65	4.21	3.18	0.36537	.	0.659663	0.12642	N	0.451245	T	0.29524	0.0736	N	0.14661	0.345	0.09310	N	1	B	0.16166	0.016	B	0.04013	0.001	T	0.21484	-1.0244	10	0.87932	D	0	-16.3496	7.4306	0.27126	0.0:0.881:0.0:0.119	.	78	D6R992	.	C	81;81;78	ENSP00000221452:R81C;ENSP00000445542:R81C;ENSP00000423287:R78C	ENSP00000221452:R81C	R	+	1	0	RELB	50207111	0.859000	0.29813	0.070000	0.20053	0.095000	0.18619	0.986000	0.29590	0.984000	0.38629	0.462000	0.41574	CGC		0.711	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			4	9	0	0	0	1	0	4	9					T	45515271	C	T	45515271	3	4	435	1	0	0	0	0	1	0	0	0	13217	536	19	1	247	1	RELB	19	45515271	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	24653	45515271	13613712	8349	29274											
RELB	5971	broad.mit.edu	37	chr19	45515383	45515383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggccgactagtgtccccagCgccgggcccgggcccgcagc	4	3	16	18	5	0	0	0	0	0	0	1	1	1	0	6	3	2	1	6	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45515383C>T	ENST00000221452.8	+	4	503	c.353C>T	c.(352-354)gCg>gTg	p.A118V	RELB_ENST00000540120.1_Missense_Mutation_p.A118V|RELB_ENST00000505236.1_Missense_Mutation_p.A115V	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	118					antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GTGTCCCCAGCGCCGGGCCCG	0.776																																						ENST00000221452.8																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12						c.(352-354)gCg>gTg		v-rel avian reticuloendotheliosis viral oncogene homolog B							5	6	6					19																	45515383		1662	3554	5216	SO:0001583	missense	5971					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:45515383C>T	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.353C>T	19.37:g.45515383C>T	ENSP00000221452:p.Ala118Val					RELB_ENST00000540120.1_Missense_Mutation_p.A118V|RELB_ENST00000505236.1_Missense_Mutation_p.A115V	p.A118V	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00986)	4	503	+		Ovarian(192;0.0728)|all_neural(266;0.112)	118					Q6GTX7|Q9UEI7	Missense_Mutation	SNP	ENST00000221452.8	37	c.353C>T	CCDS46110.1	.	.	.	.	.	.	.	.	.	.	C	8.071	0.770223	0.15983	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.48201	0.83;0.83;0.82	2.52	2.52	0.30459	.	1.377230	0.04843	N	0.440872	T	0.25306	0.0615	N	0.08118	0	0.09310	N	1	P	0.36438	0.553	B	0.24701	0.055	T	0.12863	-1.0531	10	0.32370	T	0.25	-6.5569	8.6823	0.34216	0.0:1.0:0.0:0.0	.	115	D6R992	.	V	118;118;115	ENSP00000221452:A118V;ENSP00000445542:A118V;ENSP00000423287:A115V	ENSP00000221452:A118V	A	+	2	0	RELB	50207223	0.000000	0.05858	0.019000	0.16419	0.010000	0.07245	0.266000	0.18534	1.739000	0.51704	0.462000	0.41574	GCG		0.776	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			4	15	0	0	0	1	0	4	15					T	45515383	C	T	45515383	3	4	435	1	0	0	0	0	1	0	0	0	13217	768	27	1	359	1	RELB	19	45515383	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	112	45515383	13613600	8350	29275											
GEMIN7	79760	broad.mit.edu	37	chr19	45593396	45593396	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactccagtgaacattccCgtgcctgtgctccggctgcc	7	9	9	16	2	0	1	0	1	0	0	3	1	3	1	5	1	5	2	5	1	2	1	rs151025211		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45593396C>T	ENST00000270257.4	+	3	271	c.24C>T	c.(22-24)ccC>ccT	p.P8P	GEMIN7_ENST00000591607.1_Silent_p.P8P|GEMIN7_ENST00000591747.1_Silent_p.P8P|PPP1R37_ENST00000221462.4_5'Flank|CTB-179K24.3_ENST00000586556.1_RNA|PPP1R37_ENST00000421905.1_5'Flank|GEMIN7_ENST00000391951.2_Silent_p.P8P|CTB-179K24.3_ENST00000586744.1_RNA	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	8					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		TGAACATTCCCGTGCCTGTGC	0.572																																						ENST00000270257.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7						c.(22-24)ccC>ccT		gem (nuclear organelle) associated protein 7		C	,,	2,4404		0,2,2201	90	100	97		24,24,24	-8.4	0.8	19	dbSNP_134	97	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	GEMIN7	NM_001007269.1,NM_001007270.1,NM_024707.2	,,	0,2,6498	TT,TC,CC		0.0,0.0454,0.0154	,,	8/132,8/132,8/132	45593396	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	0				ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr19:45593396C>T	AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.24C>T	19.37:g.45593396C>T						GEMIN7_ENST00000591607.1_Silent_p.P8P|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000391951.2_Silent_p.P8P|CTB-179K24.4_ENST00000586744.1_RNA|GEMIN7_ENST00000591747.1_Silent_p.P8P	p.P8P	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0131)	3	271	+		Ovarian(192;0.0728)|all_neural(266;0.112)	8					Q6IA34	Silent	SNP	ENST00000270257.4	37	c.24C>T	CCDS12654.1																																																																																				0.572	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457533.1			36	53	0	0	0	1	0	36	53					T	45593396	C	T	45593396	2	4	435	1	0	0	0	0	0	0	0	1	6333	639	23	2		2	GEMIN7	19	45593396	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	78013	45593396	13535587	8351	29276											
NKPD1	284353	broad.mit.edu	37	chr19	45656163	45656163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggtagccgttatcggccGtgcccttcatgttgcccgcg	5	10	13	13	5	1	1	1	0	0	1	2	1	1	1	4	2	3	3	4	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45656163G>A	ENST00000438936.2	-	3	1077	c.866C>T	c.(865-867)aCg>aTg	p.T289M	NKPD1_ENST00000429338.1_Missense_Mutation_p.T289M|NKPD1_ENST00000317951.4_Missense_Mutation_p.T511M|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000589776.1_Missense_Mutation_p.T289M			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	289	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GTTATCGGCCGTGCCCTTCAT	0.637																																						ENST00000317951.4																			0				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8						c.(1531-1533)aCg>aTg		NTPase, KAP family P-loop domain containing 1							11	13	13					19																	45656163		2081	4208	6289	SO:0001583	missense	284353							g.chr19:45656163G>A	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.866C>T	19.37:g.45656163G>A	ENSP00000401739:p.Thr289Met					NKPD1_ENST00000429338.1_Missense_Mutation_p.T289M|NKPD1_ENST00000438936.2_Missense_Mutation_p.T289M|NKPD1_ENST00000589776.1_Missense_Mutation_p.T289M	p.T511M	NM_198478.3	NP_940880.3				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	1531	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	ENST00000438936.2	37	c.1532C>T		.	.	.	.	.	.	.	.	.	.	G	10.20	1.284666	0.23392	.	.	ENSG00000179846	ENST00000317951;ENST00000438936;ENST00000429338	T;T;T	0.32515	1.45;1.45;1.45	5.3	4.05	0.47172	KAP P-loop (1);	0.299857	0.36374	N	0.002621	T	0.20251	0.0487	L	0.33485	1.01	0.30470	N	0.773396	P	0.50066	0.931	B	0.39706	0.307	T	0.12656	-1.0539	10	0.45353	T	0.12	-20.883	8.1352	0.31050	0.1917:0.0:0.8083:0.0	.	289	Q17RQ9	NKPD1_HUMAN	M	511;289;289	ENSP00000321976:T511M;ENSP00000401739:T289M;ENSP00000404706:T289M	ENSP00000321976:T511M	T	-	2	0	NKPD1	50348003	0.992000	0.36948	1.000000	0.80357	0.611000	0.37282	1.900000	0.39828	2.476000	0.83614	0.462000	0.41574	ACG		0.637	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2	NM_198478		4	3	0	0	0	1	0	4	3					A	45656163	G	A	45656163	3	1	435	1	0	0	0	0	1	0	0	0	10446	1145	40	1	970	1	NKPD1	19	45656163	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62767	45656163	13472820	8352	29277											
PPP1R13L	10848	broad.mit.edu	37	chr19	45888900	45888900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggcgccgtcgctgagcGtggtggcgaagattgcagcg	5	7	19	10	7	0	2	0	1	0	1	1	3	0	2	1	4	3	2	1	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45888900G>A	ENST00000418234.2	-	11	2246	c.2168C>T	c.(2167-2169)aCg>aTg	p.T723M	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.T723M	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	723					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			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)		GTCGCTGAGCGTGGTGGCGAA	0.667																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				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						c.(2167-2169)aCg>aTg		protein phosphatase 1, regulatory subunit 13 like							51	43	46					19																	45888900		2201	4298	6499	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45888900G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2168C>T	19.37:g.45888900G>A	ENSP00000403902:p.Thr723Met					PPP1R13L_ENST00000360957.5_Missense_Mutation_p.T723M	p.T723M	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	11	2246	-		all_neural(266;0.224)|Ovarian(192;0.231)	723					Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.2168C>T	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265926	0.80358	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.62232	0.04;0.04	5.44	5.44	0.79542	Src homology-3 domain (1);Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.82079	0.4959	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85201	0.1015	10	0.87932	D	0	.	16.7407	0.85458	0.0:0.0:1.0:0.0	.	723;302	Q8WUF5;A7YME7	IASPP_HUMAN;.	M	723;723;297	ENSP00000403902:T723M;ENSP00000354218:T723M	ENSP00000221478:T297M	T	-	2	0	PPP1R13L	50580740	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	9.010000	0.93611	2.553000	0.86117	0.561000	0.74099	ACG		0.667	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		5	15	0	0	0	1	0	5	15					A	45888900	G	A	45888900	3	1	435	1	0	0	0	0	1	0	0	0	12358	1145	40	1	330	1	PPP1R13L	19	45888900	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	232737	45888900	13240083	8353	29278											
ERCC1	2067	broad.mit.edu	37	chr19	45923631	45923631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcacatagtcgggaattaCgtcgccaaattcccagggca	12	7	10	12	3	0	0	0	0	0	0	3	1	1	1	2	2	2	2	2	2	4	3	rs374992813		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45923631C>T	ENST00000300853.3	-	4	967	c.376G>A	c.(376-378)Gta>Ata	p.V126I	ERCC1_ENST00000013807.5_Missense_Mutation_p.V126I|ERCC1_ENST00000340192.7_Missense_Mutation_p.V126I|ERCC1_ENST00000589165.1_Missense_Mutation_p.V126I|ERCC1_ENST00000423698.2_Missense_Mutation_p.V54I|ERCC1_ENST00000591636.1_Missense_Mutation_p.V126I	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	126					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		TCGGGAATTACGTCGCCAAAT	0.607								Nucleotide excision repair (NER)																														ENST00000300853.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15						c.(376-378)Gta>Ata	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)		C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	109	83	92		376,376,376	4.2	0	19		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ERCC1	NM_001166049.1,NM_001983.3,NM_202001.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	126/274,126/298,126/324	45923631	1,13005	2203	4300	6503	SO:0001583	missense	2067				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	g.chr19:45923631C>T		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.376G>A	19.37:g.45923631C>T	ENSP00000300853:p.Val126Ile					ERCC1_ENST00000423698.2_Missense_Mutation_p.V54I|ERCC1_ENST00000591636.1_Missense_Mutation_p.V126I|ERCC1_ENST00000589165.1_Missense_Mutation_p.V126I|ERCC1_ENST00000340192.7_Missense_Mutation_p.V126I|ERCC1_ENST00000013807.5_Missense_Mutation_p.V126I	p.V126I	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	4	967	-		Ovarian(192;0.051)|all_neural(266;0.112)	126					B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	c.376G>A	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	C	2.312	-0.357571	0.05138	0.0	1.16E-4	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000423698;ENST00000013807	T;T;T;T	0.35973	1.33;1.32;1.28;1.33	5.28	4.18	0.49190	Restriction endonuclease, type II-like (1);	0.135403	0.50627	D	0.000115	T	0.08626	0.0214	N	0.00859	-1.14	0.27297	N	0.9577	B;B;B;B	0.22080	0.064;0.002;0.032;0.017	B;B;B;B	0.11329	0.006;0.001;0.002;0.003	T	0.37663	-0.9696	10	0.02654	T	1	-12.33	5.9127	0.19037	0.0:0.8341:0.0:0.1659	.	126;54;126;126	Q7Z7F5;B3KRR0;Q96S40;P07992	.;.;.;ERCC1_HUMAN	I	126;126;54;126	ENSP00000300853:V126I;ENSP00000345203:V126I;ENSP00000394875:V54I;ENSP00000013807:V126I	ENSP00000013807:V126I	V	-	1	0	ERCC1	50615471	0.969000	0.33509	0.020000	0.16555	0.487000	0.33371	2.263000	0.43293	2.489000	0.83994	0.455000	0.32223	GTA		0.607	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983		13	25	0	0	0	1	0	13	25					T	45923631	C	T	45923631	3	4	435	1	0	0	0	0	1	0	0	0	5212	536	19	1	674	1	ERCC1	19	45923631	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	34731	45923631	13205352	8354	29279											
QPCTL	54814	broad.mit.edu	37	chr19	46205061	46205061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcccccacttccagagaagCgtctgcaccgtttgaacctg	8	8	9	16	3	1	2	0	1	1	1	2	3	2	2	5	0	3	2	5	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46205061C>T	ENST00000012049.5	+	6	1113	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	QPCTL_ENST00000366382.4_Missense_Mutation_p.R204C	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	298					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		TCCAGAGAAGCGTCTGCACCG	0.552																																						ENST00000012049.5																			0				breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11						c.(892-894)Cgt>Tgt		glutaminyl-peptide cyclotransferase-like							78	74	75					19																	46205061		2203	4300	6503	SO:0001583	missense	54814				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	g.chr19:46205061C>T	AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"glutaminyl cyclase-like"						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.892C>T	19.37:g.46205061C>T	ENSP00000012049:p.Arg298Cys					QPCTL_ENST00000366382.4_Missense_Mutation_p.R204C	p.R298C	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)	6	1113	+		Ovarian(192;0.051)|all_neural(266;0.112)	298					Q53HE4|Q96F74	Missense_Mutation	SNP	ENST00000012049.5	37	c.892C>T	CCDS12672.1	.	.	.	.	.	.	.	.	.	.	c	19.10	3.762578	0.69763	.	.	ENSG00000011478	ENST00000012049;ENST00000366382	T;T	0.23552	1.9;1.9	5.96	5.96	0.96718	Peptidase M28 (1);	0.047424	0.85682	D	0.000000	T	0.63498	0.2516	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72937	-0.4140	10	0.87932	D	0	-24.5357	15.9192	0.79547	0.0:1.0:0.0:0.0	.	298	Q9NXS2	QPCTL_HUMAN	C	298;204	ENSP00000012049:R298C;ENSP00000387944:R204C	ENSP00000012049:R298C	R	+	1	0	QPCTL	50896901	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	1.713000	0.37951	2.834000	0.97654	0.556000	0.70494	CGT		0.552	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459656.1	NM_017659		30	61	0	0	0	1	0	30	61					T	46205061	C	T	46205061	3	4	435	1	0	0	0	0	1	0	0	0	12875	768	27	1	914	1	QPCTL	19	46205061	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	281430	46205061	12923922	8355	29280											
FBXO46	23403	broad.mit.edu	37	chr19	46216179	46216179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggcgctggggtggtcggtCgtgggtagctctgcagggcc	3	8	20	10	3	1	0	0	0	1	0	3	0	1	0	1	7	2	4	1	7	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46216179C>T	ENST00000317683.3	-	2	708	c.575G>A	c.(574-576)cGa>cAa	p.R192Q		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	192										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGTGGTCGGTCGTGGGTAGCT	0.697																																						ENST00000317683.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(574-576)cGa>cAa		F-box protein 46							12	15	14					19																	46216179		1997	4146	6143	SO:0001583	missense	23403						protein binding	g.chr19:46216179C>T	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.575G>A	19.37:g.46216179C>T	ENSP00000410007:p.Arg192Gln						p.R192Q	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	708	-		Ovarian(192;0.179)|all_neural(266;0.224)	192						Missense_Mutation	SNP	ENST00000317683.3	37	c.575G>A	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	C	8.103	0.777158	0.16120	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.12	3.09	0.35607	.	.	.	.	.	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	P	0.51791	0.948	B	0.36959	0.237	T	0.05903	-1.0857	8	0.62326	D	0.03	-19.276	7.5088	0.27562	0.0:0.8826:0.0:0.1174	.	192	Q6PJ61	FBX46_HUMAN	Q	192	.	ENSP00000410007:R192Q	R	-	2	0	FBXO46	50908019	0.003000	0.15002	0.354000	0.25760	0.077000	0.17291	1.729000	0.38115	0.957000	0.37930	0.462000	0.41574	CGA		0.697	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		6	6	0	0	0	1	0	6	6					T	46216179	C	T	46216179	3	4	435	1	0	0	0	0	1	0	0	0	5755	884	31	2	1240	2	FBXO46	19	46216179	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11118	46216179	12912804	8356	29281											
DMWD	1762	broad.mit.edu	37	chr19	46289586	46289586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctccccatcagcaccggCtgctgtcgccgcctcctctg	3	8	9	21	4	2	0	1	0	1	0	5	0	4	0	7	1	2	4	7	1	0	0	rs267605546		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46289586C>T	ENST00000270223.6	-	3	1213	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000377735.3_Missense_Mutation_p.A390T|DMWD_ENST00000601370.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	390										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		TCAGCACCGGCTGCTGTCGCC	0.711																																						ENST00000270223.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1168-1170)Gcc>Acc		dystrophia myotonica, WD repeat containing							35	39	38					19																	46289586		2171	4231	6402	SO:0001583	missense	1762				meiosis			g.chr19:46289586C>T	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1168G>A	19.37:g.46289586C>T	ENSP00000270223:p.Ala390Thr					DMWD_ENST00000377735.3_Missense_Mutation_p.A390T	p.A390T	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	1213	-		Ovarian(192;0.0308)|all_neural(266;0.112)	390						Missense_Mutation	SNP	ENST00000270223.6	37	c.1168G>A	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	C	4.004	-0.001987	0.07819	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.59224	0.29;0.28	4.01	1.76	0.24704	WD40 repeat-like-containing domain (1);	0.536026	0.14036	N	0.345741	T	0.28797	0.0714	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.10450	0.005;0.002;0.003	T	0.16897	-1.0387	10	0.59425	D	0.04	-12.2326	3.1496	0.06483	0.2133:0.5619:0.0:0.2249	.	75;390;390	Q8WUW6;G5E9A7;Q09019	.;.;DMWD_HUMAN	T	390	ENSP00000366964:A390T;ENSP00000270223:A390T	ENSP00000270223:A390T	A	-	1	0	DMWD	50981426	0.001000	0.12720	0.001000	0.08648	0.025000	0.11179	0.046000	0.14035	0.424000	0.26061	0.462000	0.41574	GCC		0.711	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		10	58	0	0	0	1	0	10	58					T	46289586	C	T	46289586	3	4	435	1	0	0	0	0	1	0	0	0	4593	797	28	3	868	3	DMWD	19	46289586	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	73407	46289586	12839397	8357	29282											
RSPH6A	81492	broad.mit.edu	37	chr19	46299297	46299297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcttgttgaatgggggctgGcagggccgggttgaagctct	5	11	17	8	1	2	2	0	2	2	0	2	2	2	2	1	5	1	5	1	5	2	3	rs577242494	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46299297G>A	ENST00000221538.3	-	6	2126	c.1984C>T	c.(1984-1986)Cca>Tca	p.P662S	RSPH6A_ENST00000600188.1_Missense_Mutation_p.P398S|RSPH6A_ENST00000597055.1_Silent_p.C660C	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	662	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ATGGGGGCTGGCAGGGCCGGG	0.552													G|||	3	0.000599042	0	0	5008	,	,		13254	0		0	False		,,,				2504	0.0031					ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(1984-1986)Cca>Tca		radial spoke head 6 homolog A (Chlamydomonas)							111	122	119					19																	46299297		2203	4300	6503	SO:0001583	missense	81492					intracellular		g.chr19:46299297G>A	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1984C>T	19.37:g.46299297G>A	ENSP00000221538:p.Pro662Ser					RSPH6A_ENST00000597055.1_Silent_p.C660C|RSPH6A_ENST00000600188.1_Missense_Mutation_p.P398S	p.P662S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2126	-			662			Glu-rich.		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	c.1984C>T	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	g	20.9	4.067963	0.76301	.	.	ENSG00000104941	ENST00000221538	T	0.26223	1.75	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	M	0.72353	2.195	0.33688	D	0.613011	D	0.89917	1.0	D	0.80764	0.994	T	0.64266	-0.6448	10	0.66056	D	0.02	-17.129	14.6161	0.68549	0.0:0.0:1.0:0.0	.	662	Q9H0K4	RSH6A_HUMAN	S	662	ENSP00000221538:P662S	ENSP00000221538:P662S	P	-	1	0	RSPH6A	50991137	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.835000	0.69368	2.382000	0.81193	0.551000	0.68910	CCA		0.552	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			47	69	0	0	0	1	0	47	69					A	46299297	G	A	46299297	3	1	435	1	0	0	0	0	1	0	0	0	13707	1203	42	3	173	3	RSPH6A	19	46299297	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9711	46299297	12829686	8358	29283											
SYMPK	8189	broad.mit.edu	37	chr19	46331150	46331150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctctgtgatgagtggcGcctccagcacaaccttggtg	7	10	11	13	1	1	2	0	2	1	0	3	2	2	2	3	2	2	1	3	2	1	1	rs536424856		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46331150G>A	ENST00000245934.7	-	15	2256	c.2012C>T	c.(2011-2013)gCg>gTg	p.A671V	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	671					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GATGAGTGGCGCCTCCAGCAC	0.647																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(2011-2013)gCg>gTg		symplekin							93	91	92					19																	46331150		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46331150G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2012C>T	19.37:g.46331150G>A	ENSP00000245934:p.Ala671Val						p.A671V	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	15	2256	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	671					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.2012C>T	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082074	0.76528	.	.	ENSG00000125755	ENST00000245934	.	.	.	5.46	5.46	0.80206	Armadillo-type fold (1);	0.118801	0.56097	D	0.000025	T	0.41696	0.1170	L	0.41236	1.265	0.80722	D	1	D;B	0.55605	0.972;0.072	B;B	0.34301	0.179;0.027	T	0.51568	-0.8689	9	0.62326	D	0.03	.	16.8671	0.86032	0.0:0.0:1.0:0.0	.	686;671	Q4LE61;Q92797	.;SYMPK_HUMAN	V	671	.	ENSP00000245934:A671V	A	-	2	0	SYMPK	51022990	1.000000	0.71417	0.958000	0.39756	0.955000	0.61496	9.444000	0.97578	2.591000	0.87537	0.650000	0.86243	GCG		0.647	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		38	68	0	0	0	1	0	38	68					A	46331150	G	A	46331150	3	1	435	1	0	0	0	0	1	0	0	0	15436	1087	38	1	1864	1	SYMPK	19	46331150	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31853	46331150	12797833	8359	29284											
SYMPK	8189	broad.mit.edu	37	chr19	46332278	46332278	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagacaacaggcggatgagGcagtcctcatacttgtccag	11	7	11	12	1	1	2	1	1	0	1	3	3	3	3	3	3	2	1	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46332278G>A	ENST00000245934.7	-	14	2179	c.1935C>T	c.(1933-1935)tgC>tgT	p.C645C	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	645					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGCGGATGAGGCAGTCCTCAT	0.652																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(1933-1935)tgC>tgT		symplekin							70	70	70					19																	46332278		2203	4300	6503	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46332278G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1935C>T	19.37:g.46332278G>A							p.C645C	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	14	2179	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	645					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.1935C>T	CCDS12676.2																																																																																				0.652	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		20	34	0	0	0	1	0	20	34					A	46332278	G	A	46332278	2	1	435	1	0	0	0	0	0	0	0	1	15436	1195	42	3		3	SYMPK	19	46332278	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1128	46332278	12796705	8360	29285											
FOXA3	3171	broad.mit.edu	37	chr19	46375966	46375966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccaggaacgggacaGggtctgctgcctcgaccacc	9	4	11	17	2	1	0	0	0	1	0	2	3	1	2	6	3	3	1	6	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46375966G>A	ENST00000302177.2	+	2	900	c.703G>A	c.(703-705)Ggg>Agg	p.G235R		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	235					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			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)		GAACGGGACAGGGTCTGCTGC	0.682																																						ENST00000302177.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13						c.(703-705)Ggg>Agg		forkhead box A3							7	8	8					19																	46375966		2158	4238	6396	SO:0001583	missense	3171				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	g.chr19:46375966G>A	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"Forkhead boxes"	5023	protein-coding gene	gene with protein product		602295	"hepatocyte nuclear factor 3, gamma"	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.703G>A	19.37:g.46375966G>A	ENSP00000304004:p.Gly235Arg						p.G235R	NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	2	900	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	235					A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	ENST00000302177.2	37	c.703G>A	CCDS12677.1	.	.	.	.	.	.	.	.	.	.	G	4.040	0.004993	0.07866	.	.	ENSG00000170608	ENST00000302177	D	0.92199	-2.99	3.87	2.82	0.32997	.	3.275650	0.00983	N	0.003400	D	0.85146	0.5630	N	0.19112	0.55	0.09310	N	1	B	0.29085	0.232	B	0.24269	0.052	T	0.74677	-0.3585	10	0.23302	T	0.38	.	5.9314	0.19140	0.2384:0.0:0.7616:0.0	.	235	P55318	FOXA3_HUMAN	R	235	ENSP00000304004:G235R	ENSP00000304004:G235R	G	+	1	0	FOXA3	51067806	0.187000	0.23238	0.024000	0.17045	0.501000	0.33797	2.140000	0.42159	0.945000	0.37605	0.453000	0.30009	GGG		0.682	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1			9	8	0	0	0	1	0	9	8					A	46375966	G	A	46375966	3	1	435	1	0	0	0	0	1	0	0	0	5991	1000	35	3	709	3	FOXA3	19	46375966	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43688	46375966	12753017	8361	29286											
HIF3A	64344	broad.mit.edu	37	chr19	46807241	46807241	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtgctgtaccagctggCtcacacgctgcccttcgccc	5	8	11	17	3	1	0	1	0	0	0	2	1	1	0	3	2	4	5	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46807241C>A	ENST00000377670.4	+	2	144	c.113C>A	c.(112-114)gCt>gAt	p.A38D	HIF3A_ENST00000339613.2_5'UTR|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000300862.3_Missense_Mutation_p.A36D|HIF3A_ENST00000244303.6_Missense_Mutation_p.L18I|HIF3A_ENST00000472815.1_Missense_Mutation_p.L18I|HIF3A_ENST00000420102.2_Missense_Mutation_p.L36I|HIF3A_ENST00000600383.1_Missense_Mutation_p.L18I	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	38	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TACCAGCTGGCTCACACGCTG	0.692																																						ENST00000377670.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(112-114)gCt>gAt		hypoxia inducible factor 3, alpha subunit							12	14	13					19																	46807241		2188	4290	6478	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46807241C>A	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.113C>A	19.37:g.46807241C>A	ENSP00000366898:p.Ala38Asp					HIF3A_ENST00000420102.2_Missense_Mutation_p.L36I|HIF3A_ENST00000600383.1_Missense_Mutation_p.L18I|HIF3A_ENST00000472815.1_Missense_Mutation_p.L18I|HIF3A_ENST00000244303.6_Missense_Mutation_p.L18I|HIF3A_ENST00000300862.3_Missense_Mutation_p.A36D|HIF3A_ENST00000339613.2_5'UTR	p.A38D	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	2	144	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	38			Helix-loop-helix motif.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.113C>A	CCDS12681.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.493593|5.493593	0.96339|0.96339	.|.	.|.	ENSG00000124440|ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000414707;ENST00000472815;ENST00000300862|ENST00000457865;ENST00000244303;ENST00000533145;ENST00000457771;ENST00000420102	T;T|T;T	0.60171|0.70516	0.21;0.21|-0.22;-0.49	4.82|4.82	4.82|4.82	0.62117|0.62117	Helix-loop-helix DNA-binding (3);|.	0.186704|.	0.26338|.	N|.	0.024944|.	T|T	0.77089|0.77089	0.4079|0.4079	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	D;D;D;D|B;B;B	0.89917|0.23540	1.0;1.0;0.997;0.999|0.087;0.052;0.052	D;D;P;D|B;B;B	0.79108|0.27796	0.992;0.982;0.879;0.986|0.083;0.038;0.038	T|T	0.78770|0.78770	-0.2074|-0.2074	10|9	0.87932|0.87932	D|D	0|0	.|.	15.8032|15.8032	0.78471|0.78471	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	36;38;38;38|36;18;36	Q9Y2N7-2;Q9Y2N7;B0M185;E7EWV6|F5H884;B4DNA2;B4DSD9	.;HIF3A_HUMAN;.;.|.;.;.	D|I	38;38;38;38;59;36|18;18;18;18;36	ENSP00000366898:A38D;ENSP00000300862:A36D|ENSP00000244303:L18I;ENSP00000407771:L36I	ENSP00000244302:A38D|ENSP00000244303:L18I	A|L	+|+	2|1	0|0	HIF3A|HIF3A	51499081|51499081	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.520000|7.520000	0.81821|0.81821	2.687000|2.687000	0.91594|0.91594	0.563000|0.563000	0.77884|0.77884	GCT|CTC		0.692	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			3	3	1	0	0.00024832	1	0.000253518	3	3					A	46807241	C	A	46807241	3	1	435	1	0	0	0	0	1	0	0	0	7105	797	28	5	143	5	HIF3A	19	46807241	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	431275	46807241	12321742	8362	29287											
PPP5C	5536	broad.mit.edu	37	chr19	46857144	46857144	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgctgggagacgccacgcgGgccattgagctggacaagaa	10	4	16	11	4	0	3	0	1	0	2	0	5	0	4	2	3	1	2	2	3	2	1	rs556367863		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46857144G>A	ENST00000012443.4	+	2	364	c.261G>A	c.(259-261)cgG>cgA	p.R87R	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	87					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		ACGCCACGCGGGCCATTGAGC	0.612													G|||	1	0.000199681	8e-04	0	5008	,	,		16976	0		0	False		,,,				2504	0					ENST00000012443.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18						c.(259-261)cgG>cgA		protein phosphatase 5, catalytic subunit							42	30	34					19																	46857144		2203	4300	6503	SO:0001819	synonymous_variant	5536				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	g.chr19:46857144G>A		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "Tetratricopeptide (TTC) repeat domain containing"	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.261G>A	19.37:g.46857144G>A						PPP5C_ENST00000391919.1_5'UTR	p.R87R	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)	2	364	+		Ovarian(192;0.0731)|all_neural(266;0.196)	87					Q16722|Q53XV2	Silent	SNP	ENST00000012443.4	37	c.261G>A	CCDS12684.1																																																																																				0.612	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		4	4	0	0	0	1	0	4	4					A	46857144	G	A	46857144	2	1	435	1	0	0	0	0	0	0	0	1	12406	1219	43	3		3	PPP5C	19	46857144	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	49903	46857144	12271839	8363	29288											
CCDC8	83987	broad.mit.edu	37	chr19	46915402	46915402	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggccagccgggcctcGcccaccccggggcccgccct	3	3	15	20	4	0	0	0	0	0	0	1	1	0	1	8	5	1	0	8	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46915402G>A	ENST00000307522.3	-	1	1439	c.666C>T	c.(664-666)ggC>ggT	p.G222G		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	222					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCCGGGCCTCGCCCACCCCGG	0.701																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(664-666)ggC>ggT		coiled-coil domain containing 8							13	16	15					19																	46915402		2196	4279	6475	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46915402G>A	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.666C>T	19.37:g.46915402G>A							p.G222G	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1439	-			222					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.666C>T	CCDS12685.1																																																																																				0.701	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		8	4	0	0	0	1	0	8	4					A	46915402	G	A	46915402	2	1	435	1	0	0	0	0	0	0	0	1	2853	1074	38	1		1	CCDC8	19	46915402	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	58258	46915402	12213581	8364	29289											
PNMAL1	55228	broad.mit.edu	37	chr19	46973978	46973978	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcattcagattttttaaaaaCtcggcatcctgggtagggtc	10	14	9	8	1	2	1	2	0	0	1	5	1	3	1	1	3	1	2	1	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46973978C>A	ENST00000313683.10	-	2	620	c.315G>T	c.(313-315)gaG>gaT	p.E105D	PNMAL1_ENST00000438932.2_Missense_Mutation_p.E105D|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	105										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tttttaaaaactcggcatcct	0.567																																						ENST00000313683.10																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(313-315)gaG>gaT		paraneoplastic Ma antigen family-like 1							42	43	43					19																	46973978		2203	4300	6503	SO:0001583	missense	55228							g.chr19:46973978C>A	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"Paraneoplastic Ma antigens"	25578	protein-coding gene	gene with protein product			"PNMA-like 1"			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.315G>T	19.37:g.46973978C>A	ENSP00000318131:p.Glu105Asp					PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.E105D	p.E105D	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	620	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	105					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	ENST00000313683.10	37	c.315G>T	CCDS33059.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049694	0.36181	.	.	ENSG00000182013	ENST00000438932;ENST00000313683;ENST00000417103	T;T	0.12039	2.72;2.72	3.36	-0.0611	0.13786	.	0.215315	0.23591	N	0.046541	T	0.11707	0.0285	L	0.58428	1.81	0.20074	N	0.999936	B;B	0.24576	0.106;0.028	B;B	0.26202	0.067;0.016	T	0.18745	-1.0327	10	0.51188	T	0.08	-19.098	3.8742	0.09050	0.0:0.5668:0.1995:0.2337	.	105;105	Q86V59-2;Q86V59	.;PNML1_HUMAN	D	105	ENSP00000410273:E105D;ENSP00000318131:E105D	ENSP00000318131:E105D	E	-	3	2	PNMAL1	51665818	0.992000	0.36948	0.436000	0.26797	0.968000	0.65278	0.646000	0.24797	0.087000	0.17167	-0.137000	0.14449	GAG		0.567	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		8	48	1	0	3.09899e-07	1	3.24337e-07	8	48					A	46973978	C	A	46973978	3	1	435	1	0	0	0	0	1	0	0	0	12157	564	20	5	1034	5	PNMAL1	19	46973978	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	58576	46973978	12155005	8365	29290											
PNMAL2	57469	broad.mit.edu	37	chr19	46997592	46997592	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagtgtccttggacatgacGgacaagacctgtcggagggg	9	9	15	8	2	0	2	0	1	0	1	2	5	1	5	2	5	0	0	2	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46997592G>A	ENST00000377655.2	-	1	734				PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_5'Flank|PNMAL2_ENST00000599531.1_Silent_p.S377S			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											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)		TGGACATGACGGACAAGACCT	0.642																																						ENST00000599531.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8						c.(1129-1131)tcC>tcT		paraneoplastic Ma antigen family-like 2							24	26	25					19																	46997592		1953	4117	6070	SO:0001627	intron_variant	57469							g.chr19:46997592G>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"Paraneoplastic Ma antigens"	29206	protein-coding gene	gene with protein product			"PNMA-like 2"			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+396C>T	19.37:g.46997592G>A						PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron	p.S377S	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	2163	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	377					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37	c.1131C>T																																																																																					0.642	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		15	26	0	0	0	1	0	15	26					A	46997592	G	A	46997592	1	1	435	0	1	0	0	0	0	0	0	0	12158	1103	39	2		2	PNMAL2	19	46997592	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23614	46997592	12131391	8366	29291											
PNMAL2	57469	broad.mit.edu	37	chr19	46998410	46998410	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcaggcgtctcatctGcctcaggaccctcgtgtcct	6	9	10	16	2	3	0	2	0	2	0	6	1	4	1	3	2	3	2	3	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46998410G>A	ENST00000377655.2	-	1	312	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Missense_Mutation_p.C174Y|PNMAL2_ENST00000599531.1_Nonsense_Mutation_p.Q105*			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	105										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)		CGTCTCATCTGCCTCAGGACC	0.687																																						ENST00000599531.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8						c.(313-315)Cag>Tag		paraneoplastic Ma antigen family-like 2							99	105	103					19																	46998410		2203	4300	6503	SO:0001587	stop_gained	57469							g.chr19:46998410G>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"Paraneoplastic Ma antigens"	29206	protein-coding gene	gene with protein product			"PNMA-like 2"			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.313C>T	19.37:g.46998410G>A	ENSP00000366883:p.Gln105*					PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Missense_Mutation_p.C174Y|PNMAL2_ENST00000377655.2_Nonsense_Mutation_p.Q105*	p.Q105*	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	1345	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	105					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Nonsense_Mutation	SNP	ENST00000377655.2	37	c.313C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.840742|5.840742	0.97009|0.97009	.|.	.|.	ENSG00000204850|ENSG00000204851	ENST00000377652|ENST00000377655	.|.	.|.	.|.	2.72|2.72	2.72|2.72	0.32119|0.32119	.|.	.|.	.|.	.|.	.|.	T|.	0.42877|.	0.1222|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	D|.	0.76494|.	0.999|.	D|.	0.85130|.	0.997|.	T|.	0.51865|.	-0.8651|.	6|.	0.87932|0.27785	D|T	0|0.31	-10.1627|-10.1627	9.1281|9.1281	0.36828|0.36828	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	174|.	Q6ZVU4|.	.|.	Y|X	174|105	.|.	ENSP00000366880:C174Y|ENSP00000366883:Q105X	C|Q	+|-	2|1	0|0	AC011484.1|PNMAL2	51690250|51690250	0.928000|0.928000	0.31464|0.31464	0.984000|0.984000	0.44739|0.44739	0.882000|0.882000	0.50991|0.50991	2.359000|2.359000	0.44142|0.44142	1.811000|1.811000	0.52892|0.52892	0.561000|0.561000	0.74099|0.74099	TGC|CAG		0.687	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		10	114	0	0	0	1	0	10	114					A	46998410	G	A	46998410	4	1	435	1	0	0	0	0	0	1	0	0	12158	1328	46	3	1598	3	PNMAL2	19	46998410	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	818	46998410	12130573	8367	29292											
PTGIR	5739	broad.mit.edu	37	chr19	47127272	47127272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgcataggccacgaacaCggccgggctcaggaagctgg	9	3	16	13	5	1	0	1	0	0	0	1	2	1	1	2	5	2	3	2	5	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47127272C>T	ENST00000291294.2	-	2	344	c.211G>A	c.(211-213)Gtg>Atg	p.V71M	PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.V71M|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000594275.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	71					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	GCCACGAACACGGCCGGGCTC	0.731																																						ENST00000291294.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13						c.(211-213)Gtg>Atg		prostaglandin I2 (prostacyclin) receptor (IP)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)						7	10	9					19																	47127272		2078	4018	6096	SO:0001583	missense	0				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity	g.chr19:47127272C>T		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.211G>A	19.37:g.47127272C>T	ENSP00000291294:p.Val71Met					PTGIR_ENST00000596260.1_Missense_Mutation_p.V71M|PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000598865.1_Intron	p.V71M	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	2	344	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	71						Missense_Mutation	SNP	ENST00000291294.2	37	c.211G>A	CCDS12686.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740280	0.89573	.	.	ENSG00000160013	ENST00000291294	T	0.36157	1.27	4.73	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.66446	0.2790	M	0.89840	3.065	0.53005	D	0.999968	D	0.89917	1.0	D	0.97110	1.0	T	0.73097	-0.4090	10	0.54805	T	0.06	-12.8915	15.244	0.73493	0.0:1.0:0.0:0.0	.	71	P43119	PI2R_HUMAN	M	71	ENSP00000291294:V71M	ENSP00000291294:V71M	V	-	1	0	PTGIR	51819112	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	7.527000	0.81931	2.451000	0.82905	0.563000	0.77884	GTG		0.731	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			4	2	0	0	0	1	0	4	2					T	47127272	C	T	47127272	3	4	435	1	0	0	0	0	1	0	0	0	12751	536	19	1	957	1	PTGIR	19	47127272	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	128862	47127272	12001711	8368	29293											
PRKD2	25865	broad.mit.edu	37	chr19	47195019	47195019	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccactccaaactgccctgAgcccagcacttcgtcaggga	10	6	9	16	1	1	1	1	1	0	0	3	3	2	2	4	1	4	1	4	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47195019A>G	ENST00000291281.4	-	12	1900	c.1675T>C	c.(1675-1677)Tca>Cca	p.S559P	PRKD2_ENST00000601806.1_Missense_Mutation_p.S402P|PRKD2_ENST00000600194.1_Missense_Mutation_p.S402P|PRKD2_ENST00000433867.1_Missense_Mutation_p.S559P|PRKD2_ENST00000595515.1_Missense_Mutation_p.S559P|RN7SL364P_ENST00000473668.2_RNA			Q9BZL6	KPCD2_HUMAN	protein kinase D2	559	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		AACTGCCCTGAGCCCAGCACT	0.587																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(1675-1677)Tca>Cca		protein kinase D2							91	87	88					19																	47195019		2203	4300	6503	SO:0001583	missense	25865				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	g.chr19:47195019A>G	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1675T>C	19.37:g.47195019A>G	ENSP00000291281:p.Ser559Pro					PRKD2_ENST00000291281.4_Missense_Mutation_p.S559P|PRKD2_ENST00000601806.1_Missense_Mutation_p.S402P|PRKD2_ENST00000600194.1_Missense_Mutation_p.S402P|PRKD2_ENST00000595515.1_Missense_Mutation_p.S559P	p.S559P	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	13	2152	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	559			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.1675T>C	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.318286	0.81469	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.68025	-0.3;-0.3	4.5	4.5	0.54988	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.81143	0.4761	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.979;0.999	D	0.83801	0.0236	10	0.87932	D	0	-9.6302	12.0941	0.53744	1.0:0.0:0.0:0.0	.	559;559	E7ER94;Q9BZL6	.;KPCD2_HUMAN	P	559	ENSP00000291281:S559P;ENSP00000393978:S559P	ENSP00000291281:S559P	S	-	1	0	PRKD2	51886859	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.326000	0.79133	1.816000	0.52996	0.454000	0.30748	TCA		0.587	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		22	35	0	0	0	1	0	22	35					G	47195019	A	G	47195019	3	3	435	1	0	0	0	0	1	0	0	0	12519	304	11	4	989	4	PRKD2	19	47195019	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	67747	47195019	11933964	8369	29294											
STRN4	29888	broad.mit.edu	37	chr19	47228829	47228829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtggaaggccagggaaCgaatgccgtcgtagtgcgag	9	7	18	7	4	0	0	0	0	0	0	1	4	0	2	2	4	3	1	2	4	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47228829C>T	ENST00000263280.6	-	10	1374	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H	STRN4_ENST00000539396.1_Missense_Mutation_p.R323H|STRN4_ENST00000391910.3_Missense_Mutation_p.R449H|STRN4_ENST00000594357.2_5'UTR	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	442						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GGCCAGGGAACGAATGCCGTC	0.612																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1345-1347)cGt>cAt		striatin, calmodulin binding protein 4							84	84	84					19																	47228829		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47228829C>T	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1325G>A	19.37:g.47228829C>T	ENSP00000263280:p.Arg442His					STRN4_ENST00000263280.6_Missense_Mutation_p.R442H|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Missense_Mutation_p.R323H	p.R449H			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	10	1796	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	442					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.1346G>A	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993046	0.93167	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.62105	0.05;0.05;0.05	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76371	0.3978	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78339	-0.2242	10	0.59425	D	0.04	-23.8563	16.8978	0.86105	0.0:1.0:0.0:0.0	.	449;442	F8VYA6;Q9NRL3	.;STRN4_HUMAN	H	449;442;323	ENSP00000375777:R449H;ENSP00000263280:R442H;ENSP00000440901:R323H	ENSP00000263280:R442H	R	-	2	0	STRN4	51920669	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	5.774000	0.68906	2.290000	0.77057	0.561000	0.74099	CGT		0.612	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			9	25	0	0	0	1	0	9	25					T	47228829	C	T	47228829	3	4	435	1	0	0	0	0	1	0	0	0	15330	536	19	1	968	1	STRN4	19	47228829	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33810	47228829	11900154	8370	29295											
STRN4	29888	broad.mit.edu	37	chr19	47231891	47231891	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcacccagctcatgggggctCccatccacagtgcaccgccg	7	6	10	18	2	2	0	2	0	0	0	4	0	4	0	5	2	2	3	5	2	0	0	rs372710891		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47231891C>T	ENST00000263280.6	-	7	1072	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	STRN4_ENST00000539396.1_Silent_p.G222G|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000391910.3_Silent_p.G341G|STRN4_ENST00000594357.2_5'Flank	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	341						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CATGGGGGCTCCCATCCACAG	0.632																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1021-1023)ggG>ggA		striatin, calmodulin binding protein 4							59	58	58					19																	47231891		2203	4300	6503	SO:0001819	synonymous_variant	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47231891C>T	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1023G>A	19.37:g.47231891C>T						STRN4_ENST00000263280.6_Silent_p.G341G|STRN4_ENST00000539396.1_Silent_p.G222G|CTB-174O21.2_ENST00000600716.1_RNA	p.G341G			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	7	1473	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	341					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Silent	SNP	ENST00000263280.6	37	c.1023G>A	CCDS12690.1																																																																																				0.632	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			8	17	0	0	0	1	0	8	17					T	47231891	C	T	47231891	2	4	435	1	0	0	0	0	0	0	0	1	15330	842	30	3		3	STRN4	19	47231891	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3062	47231891	11897092	8371	29296											
SLC1A5	6510	broad.mit.edu	37	chr19	47278811	47278811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgaccgtggcatcccctgCgggcccccgatagtgtttga	5	8	14	14	4	0	1	0	1	0	0	1	3	1	1	5	3	1	2	5	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47278811C>T	ENST00000542575.2	-	8	2210	c.1582G>A	c.(1582-1584)Gca>Aca	p.A528T	SLC1A5_ENST00000412532.2_Missense_Mutation_p.A300T|SLC1A5_ENST00000434726.2_Missense_Mutation_p.A326T|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000594991.1_Missense_Mutation_p.A352T	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	528					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		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)	GCATCCCCTGCGGGCCCCCGA	0.592																																						ENST00000542575.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13						c.(1582-1584)Gca>Aca		solute carrier family 1 (neutral amino acid transporter), member 5	L-Asparagine(DB00174)|L-Glutamine(DB00130)						90	101	97					19																	47278811		2203	4300	6503	SO:0001583	missense	6510				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	g.chr19:47278811C>T	U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"Solute carriers"	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.1582G>A	19.37:g.47278811C>T	ENSP00000444408:p.Ala528Thr					SLC1A5_ENST00000434726.2_Missense_Mutation_p.A326T|SLC1A5_ENST00000412532.2_Missense_Mutation_p.A300T|SLC1A5_ENST00000594991.1_Missense_Mutation_p.A352T|FKRP_ENST00000600646.1_Intron	p.A528T	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	8	2210	-		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)	528					A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	ENST00000542575.2	37	c.1582G>A	CCDS12692.1	.	.	.	.	.	.	.	.	.	.	c	10.89	1.478403	0.26511	.	.	ENSG00000105281	ENST00000542575;ENST00000434726;ENST00000412532;ENST00000306894	T;T;T	0.65178	0.66;-0.14;-0.12	4.88	-2.36	0.06663	.	0.485954	0.20230	N	0.096505	T	0.38134	0.1029	L	0.39898	1.24	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.09377	0.004;0.004;0.004	T	0.13124	-1.0521	10	0.14656	T	0.56	-34.2952	0.5073	0.00590	0.37:0.2308:0.1208:0.2783	.	326;528;528	E9PC01;Q15758;Q71UA6	.;AAAT_HUMAN;.	T	528;326;300;535	ENSP00000444408:A528T;ENSP00000406532:A326T;ENSP00000397924:A300T	ENSP00000303623:A535T	A	-	1	0	SLC1A5	51970651	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.514000	0.02254	-0.441000	0.07201	-1.328000	0.01277	GCA		0.592	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			40	66	0	0	0	1	0	40	66					T	47278811	C	T	47278811	3	4	435	1	0	0	0	0	1	0	0	0	14435	768	27	1	47	1	SLC1A5	19	47278811	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	46920	47278811	11850172	8372	29297											
ARHGAP35	2909	broad.mit.edu	37	chr19	47424426	47424426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatcggactgcacaagaagCggattgaactgtctgttctt	11	11	10	9	2	2	2	0	1	2	1	3	4	2	4	0	2	3	2	0	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47424426C>T	ENST00000404338.3	+	1	2494	c.2494C>T	c.(2494-2496)Cgg>Tgg	p.R832W		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	832					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GCACAAGAAGCGGATTGAACT	0.423																																						ENST00000404338.3																			0											c.(2494-2496)Cgg>Tgg		Rho GTPase activating protein 35							171	160	164					19																	47424426		1914	4122	6036	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424426C>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2494C>T	19.37:g.47424426C>T	ENSP00000385720:p.Arg832Trp						p.R832W	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2494	+			832					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2494C>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501574	0.64298	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.48836	0.8	5.49	5.49	0.81192	.	0.207880	0.50627	D	0.000116	T	0.67183	0.2866	M	0.62723	1.935	0.54753	D	0.999983	D	0.89917	1.0	D	0.71870	0.975	T	0.68796	-0.5314	10	0.87932	D	0	-22.015	18.5057	0.90896	0.0:1.0:0.0:0.0	.	832	Q9NRY4-2	.	W	832	ENSP00000385720:R832W	ENSP00000324820:R832W	R	+	1	2	ARHGAP35	52116266	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.930000	0.56522	2.743000	0.94032	0.655000	0.94253	CGG		0.423	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		30	56	0	0	0	1	0	30	56					T	47424426	C	T	47424426	3	4	435	1	0	0	0	0	1	0	0	0	6795	759	27	1	2496	1	ARHGAP35	19	47424426	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	145615	47424426	11704557	8373	29298											
ZC3H4	23211	broad.mit.edu	37	chr19	47570545	47570545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcgggcacggggggcactgCgtcctgcttggggatgggta	4	7	20	10	4	0	0	0	0	0	0	1	1	1	1	1	7	2	4	1	7	1	2	rs555579595		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47570545C>T	ENST00000253048.5	-	15	3017	c.2980G>A	c.(2980-2982)Gca>Aca	p.A994T	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	994							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)		GGGGGCACTGCGTCCTGCTTG	0.716													C|||	1	0.000199681	0	0	5008	,	,		11829	0		0	False		,,,				2504	0.001					ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2980-2982)Gca>Aca		zinc finger CCCH-type containing 4							39	47	44					19																	47570545		2041	4171	6212	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47570545C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2980G>A	19.37:g.47570545C>T	ENSP00000253048:p.Ala994Thr					ZC3H4_ENST00000594019.1_5'UTR	p.A994T	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	15	3017	-		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)	994					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.2980G>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	5.668	0.307803	0.10733	.	.	ENSG00000130749	ENST00000253048	T	0.17213	2.29	5.02	-4.87	0.03123	.	1.182110	0.05859	N	0.622624	T	0.06280	0.0162	N	0.14661	0.345	0.09310	N	1	P	0.48998	0.918	B	0.33454	0.164	T	0.36138	-0.9760	10	0.32370	T	0.25	.	5.0346	0.14428	0.4323:0.2723:0.0:0.2954	.	994	Q9UPT8	ZC3H4_HUMAN	T	994	ENSP00000253048:A994T	ENSP00000253048:A994T	A	-	1	0	ZC3H4	52262385	0.000000	0.05858	0.000000	0.03702	0.193000	0.23685	-0.770000	0.04705	-0.523000	0.06409	0.563000	0.77884	GCA		0.716	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			35	33	0	0	0	1	0	35	33					T	47570545	C	T	47570545	3	4	435	1	0	0	0	0	1	0	0	0	17567	768	27	1	935	1	ZC3H4	19	47570545	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	146119	47570545	11558438	8374	29299											
ZC3H4	23211	broad.mit.edu	37	chr19	47585445	47585445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcactaaaggatatcgtgCatataagggcagttctcagc	12	10	11	8	1	1	0	1	0	1	0	3	1	1	1	0	3	2	4	0	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47585445C>T	ENST00000253048.5	-	10	1363	c.1326G>A	c.(1324-1326)atG>atA	p.M442I	RN7SL533P_ENST00000584468.1_RNA|ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	442							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)		GGATATCGTGCATATAAGGGC	0.463																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(1324-1326)atG>atA		zinc finger CCCH-type containing 4							160	149	153					19																	47585445		1981	4165	6146	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47585445C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1326G>A	19.37:g.47585445C>T	ENSP00000253048:p.Met442Ile					ZC3H4_ENST00000594019.1_Intron	p.M442I	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	10	1363	-		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)	442					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.1326G>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229481	0.79688	.	.	ENSG00000130749	ENST00000253048	T	0.37235	1.21	5.87	5.87	0.94306	Zinc finger, CCCH-type (3);	0.163359	0.56097	D	0.000032	T	0.56630	0.1998	L	0.49126	1.545	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.51340	-0.8718	10	0.49607	T	0.09	.	18.9794	0.92749	0.0:1.0:0.0:0.0	.	442	Q9UPT8	ZC3H4_HUMAN	I	442	ENSP00000253048:M442I	ENSP00000253048:M442I	M	-	3	0	ZC3H4	52277285	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.572000	0.82409	2.781000	0.95711	0.655000	0.94253	ATG		0.463	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			31	36	0	0	0	1	0	31	36					T	47585445	C	T	47585445	3	4	435	1	0	0	0	0	1	0	0	0	17567	710	25	3	2609	3	ZC3H4	19	47585445	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14900	47585445	11543538	8375	29300											
ZC3H4	23211	broad.mit.edu	37	chr19	47587613	47587613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccttacccaggtgcagcGcccttccacgaagtacttgc	7	9	9	16	2	0	0	0	0	0	0	2	1	2	0	4	1	5	3	4	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47587613G>A	ENST00000253048.5	-	9	1244	c.1207C>T	c.(1207-1209)Cgc>Tgc	p.R403C	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	403							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)		CAGGTGCAGCGCCCTTCCACG	0.592																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(1207-1209)Cgc>Tgc		zinc finger CCCH-type containing 4							70	73	72					19																	47587613		2076	4214	6290	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47587613G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1207C>T	19.37:g.47587613G>A	ENSP00000253048:p.Arg403Cys					ZC3H4_ENST00000594019.1_Intron	p.R403C	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	9	1244	-		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)	403					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.1207C>T	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966890	0.53507	.	.	ENSG00000130749	ENST00000253048	T	0.38240	1.15	5.67	5.67	0.87782	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.58466	0.2124	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59364	-0.7468	10	0.87932	D	0	.	14.4205	0.67180	0.0:0.0:0.8518:0.1482	.	403	Q9UPT8	ZC3H4_HUMAN	C	403	ENSP00000253048:R403C	ENSP00000253048:R403C	R	-	1	0	ZC3H4	52279453	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.315000	0.51951	2.837000	0.97791	0.655000	0.94253	CGC		0.592	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			9	17	0	0	0	1	0	9	17					A	47587613	G	A	47587613	3	1	435	1	0	0	0	0	1	0	0	0	17567	1087	38	1	2732	1	ZC3H4	19	47587613	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2168	47587613	11541370	8376	29301											
GPR77	27202	broad.mit.edu	37	chr19	47844630	47844630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgtggtggactacggcGgctcctccagcaccgagaat	8	8	14	11	3	0	1	0	0	0	1	2	3	2	2	3	4	2	2	3	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47844630G>A	ENST00000595464.1	+	2	792	c.574G>A	c.(574-576)Ggc>Agc	p.G192S	C5AR2_ENST00000257267.2_Missense_Mutation_p.G192S|C5AR2_ENST00000600626.1_Missense_Mutation_p.G192S	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	192					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										GGACTACGGCGGCTCCTCCAG	0.667																																						ENST00000595464.1																			0											c.(574-576)Ggc>Agc		complement component 5a receptor 2							54	62	59					19																	47844630		2203	4299	6502	SO:0001583	missense	27202							g.chr19:47844630G>A	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"GPCR / Class A : Complement component receptors"	4527	protein-coding gene	gene with protein product		609949	"G protein-coupled receptor 77"	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.574G>A	19.37:g.47844630G>A	ENSP00000472620:p.Gly192Ser					C5AR2_ENST00000600626.1_Missense_Mutation_p.G192S|C5AR2_ENST00000257267.2_Missense_Mutation_p.G192S	p.G192S	NM_001271749.1	NP_001258678.1					2	792	+								B2RA09	Missense_Mutation	SNP	ENST00000595464.1	37	c.574G>A	CCDS12699.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311262	0.40895	.	.	ENSG00000134830	ENST00000257267	T	0.31247	1.5	4.41	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.670368	0.14069	N	0.343536	T	0.22322	0.0538	N	0.25789	0.76	0.33923	D	0.64106	D	0.58970	0.984	P	0.44561	0.453	T	0.17592	-1.0364	10	0.20519	T	0.43	.	10.203	0.43097	0.0981:0.0:0.9019:0.0	.	192	Q9P296	C5ARL_HUMAN	S	192	ENSP00000257267:G192S	ENSP00000257267:G192S	G	+	1	0	GPR77	52536470	0.000000	0.05858	0.223000	0.23860	0.044000	0.14063	0.005000	0.13129	1.072000	0.40860	0.313000	0.20887	GGC		0.667	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485		21	37	0	0	0	1	0	21	37					A	47844630	G	A	47844630	3	1	435	1	0	0	0	0	1	0	0	0	6709	1116	39	2	576	2	GPR77	19	47844630	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	257017	47844630	11284353	8377	29302											
DHX34	9704	broad.mit.edu	37	chr19	47876928	47876928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagaggagcatcgactgtacGaaatggccaaccttcggcgc	11	7	12	11	4	0	1	0	0	0	1	2	4	0	2	2	3	3	2	2	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47876928G>A	ENST00000328771.4	+	9	2384	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	679					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			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)		TCGACTGTACGAAATGGCCAA	0.612																																						ENST00000328771.4																			0				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						c.(2035-2037)Gaa>Aaa		DEAH (Asp-Glu-Ala-His) box polypeptide 34							69	56	60					19																	47876928		2202	4300	6502	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47876928G>A	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2035G>A	19.37:g.47876928G>A	ENSP00000331907:p.Glu679Lys						p.E679K	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	9	2384	+		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)	679					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.2035G>A	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450870	0.96205	.	.	ENSG00000134815	ENST00000328771	T	0.03330	3.97	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000007	T	0.16257	0.0391	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00325	-1.1816	10	0.49607	T	0.09	-36.7225	17.0766	0.86588	0.0:0.0:1.0:0.0	.	679	Q14147	DHX34_HUMAN	K	679	ENSP00000331907:E679K	ENSP00000331907:E679K	E	+	1	0	DHX34	52568728	1.000000	0.71417	0.974000	0.42286	0.752000	0.42762	8.478000	0.90428	2.328000	0.79073	0.561000	0.74099	GAA		0.612	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		5	12	0	0	0	1	0	5	12					A	47876928	G	A	47876928	3	1	435	1	0	0	0	0	1	0	0	0	4507	1059	37	2	2065	2	DHX34	19	47876928	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32298	47876928	11252055	8378	29303											
DHX34	9704	broad.mit.edu	37	chr19	47884452	47884452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgccacagaatgacacaGacctgtacagcgactgtctc	11	7	9	14	1	1	3	0	1	1	2	2	4	1	3	3	0	3	1	3	0	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47884452G>A	ENST00000328771.4	+	16	3518	c.3169G>A	c.(3169-3171)Gac>Aac	p.D1057N		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1057					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			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)		GAATGACACAGACCTGTACAG	0.672																																						ENST00000328771.4																			0				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						c.(3169-3171)Gac>Aac		DEAH (Asp-Glu-Ala-His) box polypeptide 34							68	70	70					19																	47884452		2203	4300	6503	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47884452G>A	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.3169G>A	19.37:g.47884452G>A	ENSP00000331907:p.Asp1057Asn						p.D1057N	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	16	3518	+		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)	1057					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.3169G>A	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123794	0.37436	.	.	ENSG00000134815	ENST00000328771	T	0.02837	4.14	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000019	T	0.03011	0.0089	L	0.28400	0.85	0.47123	D	0.999324	B	0.28512	0.214	B	0.20767	0.031	T	0.58284	-0.7663	10	0.27082	T	0.32	-39.6339	15.7157	0.77667	0.0:0.0:1.0:0.0	.	1057	Q14147	DHX34_HUMAN	N	1057	ENSP00000331907:D1057N	ENSP00000331907:D1057N	D	+	1	0	DHX34	52576283	1.000000	0.71417	0.923000	0.36655	0.320000	0.28249	4.617000	0.61204	2.440000	0.82611	0.561000	0.74099	GAC		0.672	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		19	37	0	0	0	1	0	19	37					A	47884452	G	A	47884452	3	1	435	1	0	0	0	0	1	0	0	0	4507	942	33	3	3227	3	DHX34	19	47884452	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7524	47884452	11244531	8379	29304											
SLC8A2	6543	broad.mit.edu	37	chr19	47941165	47941165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagttctccccaagaactgGcttgcccatctctgctatcc	7	11	7	16	0	2	1	0	0	2	1	5	1	3	1	4	1	3	4	4	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47941165G>A	ENST00000236877.6	-	7	2346	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S	SLC8A2_ENST00000539381.1_Missense_Mutation_p.P114S|SLC8A2_ENST00000542837.1_Missense_Mutation_p.P407S|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	651					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			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)		CCAAGAACTGGCTTGCCCATC	0.582																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(1951-1953)Cca>Tca		solute carrier family 8 (sodium/calcium exchanger), member 2							120	116	117					19																	47941165		2203	4300	6503	SO:0001583	missense	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47941165G>A	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1951C>T	19.37:g.47941165G>A	ENSP00000236877:p.Pro651Ser					SLC8A2_ENST00000542837.1_Missense_Mutation_p.P407S|SLC8A2_ENST00000539381.1_Missense_Mutation_p.P114S|SLC8A2_ENST00000601757.1_5'UTR	p.P651S	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	7	2346	-		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)	651					B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.1951C>T	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997918	0.74818	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000539381;ENST00000542837	T;T;T	0.27720	1.65;1.65;1.65	2.54	2.54	0.30619	.	0.000000	0.64402	U	0.000003	T	0.60064	0.2240	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.71066	-0.4700	10	0.87932	D	0	.	12.953	0.58411	0.0:0.0:1.0:0.0	.	479;651	E9PGS7;Q9UPR5	.;NAC2_HUMAN	S	479;651;114;407	ENSP00000236877:P651S;ENSP00000440588:P114S;ENSP00000437536:P407S	ENSP00000236877:P651S	P	-	1	0	SLC8A2	52632977	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.532000	0.98057	1.751000	0.51876	0.456000	0.33151	CCA		0.582	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			39	78	0	0	0	1	0	39	78					A	47941165	G	A	47941165	3	1	435	1	0	0	0	0	1	0	0	0	14707	1203	42	3	830	3	SLC8A2	19	47941165	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	56713	47941165	11187818	8380	29305											
SLC8A2	6543	broad.mit.edu	37	chr19	47951338	47951338	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgggccgcccgccgccGtccggctcgaacatgccctg	3	6	12	20	6	0	0	0	0	0	0	2	1	1	0	7	2	2	1	7	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47951338G>A	ENST00000236877.6	-	4	1886	c.1491C>T	c.(1489-1491)gaC>gaT	p.D497D	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Silent_p.D253D|SLC8A2_ENST00000601757.1_5'Flank	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	497					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			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)		GCCCGCCGCCGTCCGGCTCGA	0.687																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(1489-1491)gaC>gaT		solute carrier family 8 (sodium/calcium exchanger), member 2							13	14	13					19																	47951338		2180	4250	6430	SO:0001819	synonymous_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47951338G>A	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1491C>T	19.37:g.47951338G>A						SLC8A2_ENST00000542837.1_Silent_p.D253D|SLC8A2_ENST00000539381.1_Intron	p.D497D	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	4	1886	-		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)	497					B4DYQ9	Silent	SNP	ENST00000236877.6	37	c.1491C>T	CCDS33065.1																																																																																				0.687	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			6	5	0	0	0	1	0	6	5					A	47951338	G	A	47951338	2	1	435	1	0	0	0	0	0	0	0	1	14707	1136	40	1		1	SLC8A2	19	47951338	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10173	47951338	11177645	8381	29306											
GLTSCR1	29998	broad.mit.edu	37	chr19	48183474	48183474	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgcatcgcacacccacGcccatccagcccaagcccgc	9	4	6	22	3	0	0	0	0	0	0	3	0	2	0	6	0	3	2	6	0	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:48183474G>A	ENST00000396720.3	+	6	1241	c.1047G>A	c.(1045-1047)acG>acA	p.T349T	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	349										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCACACCCACGCCCATCCAGC	0.746																																						ENST00000396720.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(1045-1047)acG>acA		glioma tumor suppressor candidate region gene 1							3	3	3					19																	48183474		1596	3403	4999	SO:0001819	synonymous_variant	29998						protein binding	g.chr19:48183474G>A	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.1047G>A	19.37:g.48183474G>A						CTD-2571L23.8_ENST00000599924.1_lincRNA	p.T349T	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	6	1241	+		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)	349					A8MW01	Silent	SNP	ENST00000396720.3	37	c.1047G>A	CCDS46134.1																																																																																				0.746	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		7	4	0	0	0	1	0	7	4					A	48183474	G	A	48183474	2	1	435	1	0	0	0	0	0	0	0	1	6474	1074	38	1		1	GLTSCR1	19	48183474	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	232136	48183474	10945509	8382	29307											
GLTSCR2	29997	broad.mit.edu	37	chr19	48259855	48259855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgatcgagcctcgagagaGagccaagtaaggggcggccg	11	5	16	9	4	0	3	0	1	0	2	2	6	0	3	3	3	2	1	3	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:48259855G>T	ENST00000246802.5	+	11	1405	c.1367G>T	c.(1366-1368)aGa>aTa	p.R456I	GLTSCR2_ENST00000598681.1_3'UTR|CTD-2571L23.6_ENST00000602048.1_RNA|SNORD23_ENST00000408876.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	456				EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413). {ECO:0000305}.|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5). {ECO:0000305}.		intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		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)		CCTCGAGAGAGAGCCAAGTAA	0.617																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(1366-1368)aGa>aTa		glioma tumor suppressor candidate region gene 2							42	47	45					19																	48259855		2203	4300	6503	SO:0001583	missense	29997					nucleolus		g.chr19:48259855G>T	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1367G>T	19.37:g.48259855G>T	ENSP00000246802:p.Arg456Ile					GLTSCR2_ENST00000598681.1_3'UTR	p.R456I	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	11	1405	+		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)	456	EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413).|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5).				Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	c.1367G>T	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736443	0.89482	.	.	ENSG00000105373	ENST00000246802;ENST00000325566;ENST00000446535	T	0.34859	1.34	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.45895	0.1365	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.42447	-0.9451	10	0.62326	D	0.03	-11.8295	13.5075	0.61491	0.0:0.0:1.0:0.0	.	456	Q9NZM5	GSCR2_HUMAN	I	456;450;241	ENSP00000246802:R456I	ENSP00000246802:R456I	R	+	2	0	GLTSCR2	52951667	1.000000	0.71417	0.999000	0.59377	0.884000	0.51177	7.204000	0.77872	2.657000	0.90304	0.655000	0.94253	AGA		0.617	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		8	18	1	0	0.000274275	1	0.000279654	8	18					T	48259855	G	T	48259855	3	4	435	1	0	0	0	0	1	0	0	0	6475	942	33	5	1409	5	GLTSCR2	19	48259855	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	76381	48259855	10869128	8383	29308											
KDELR1	10945	broad.mit.edu	37	chr19	48887660	48887660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggctggtgatggtctccGcctcgccggtcttgctcacc	3	11	13	14	3	3	1	1	1	2	0	5	1	3	1	4	4	1	2	4	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:48887660G>A	ENST00000330720.2	-	4	625	c.431C>T	c.(430-432)gCg>gTg	p.A144V	KDELR1_ENST00000597017.1_Missense_Mutation_p.A82V	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	144					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		GATGGTCTCCGCCTCGCCGGT	0.572																																						ENST00000597017.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(244-246)gCg>gTg		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1							64	55	58					19																	48887660		2203	4300	6503	SO:0001583	missense	10945				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity	g.chr19:48887660G>A	X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.431C>T	19.37:g.48887660G>A	ENSP00000329471:p.Ala144Val					KDELR1_ENST00000330720.2_Missense_Mutation_p.A144V	p.A82V			P24390	ERD21_HUMAN		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)	3	670	-		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)	144					B2R6N4|Q54A39|Q8NBW7	Missense_Mutation	SNP	ENST00000330720.2	37	c.245C>T	CCDS12718.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492592	0.64074	.	.	ENSG00000105438	ENST00000330720	T	0.38722	1.12	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000014	T	0.39627	0.1085	L	0.56396	1.775	0.80722	D	1	P	0.34800	0.469	B	0.31495	0.131	T	0.24548	-1.0157	10	0.25751	T	0.34	.	17.0435	0.86496	0.0:0.0:1.0:0.0	.	144	P24390	ERD21_HUMAN	V	144	ENSP00000329471:A144V	ENSP00000329471:A144V	A	-	2	0	KDELR1	53579472	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.520000	0.98027	2.639000	0.89480	0.655000	0.94253	GCG		0.572	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465708.1			10	9	0	0	0	1	0	10	9					A	48887660	G	A	48887660	3	1	435	1	0	0	0	0	1	0	0	0	8119	1087	38	1	215	1	KDELR1	19	48887660	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	627805	48887660	10241323	8384	29309											
KCNJ14	3770	broad.mit.edu	37	chr19	48965165	48965165	+	Missense_Mutation	SNP	C	C	T																															aagacgggcactgcaacgtgCgtttcgtaaacctgggtggc																								rs370291546		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:48965165C>T	ENST00000391884.1	+	1	660	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	KCNJ14_ENST00000342291.2_Missense_Mutation_p.R62C			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	62					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CTGCAACGTGCGTTTCGTAAA	0.687																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(184-186)Cgt>Tgt		potassium inwardly-rectifying channel, subfamily J, member 14		C	CYS/ARG,CYS/ARG	0,4404		0,0,2202	52	34	40		184,184	4.3	1	19		40	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	KCNJ14	NM_013348.2,NM_170720.1	180,180	0,3,6499	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	62/437,62/437	48965165	3,13001	2202	4300	6502	SO:0001583	missense	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48965165C>T	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.184C>T	19.37:g.48965165C>T	ENSP00000375756:p.Arg62Cys					KCNJ14_ENST00000342291.2_Missense_Mutation_p.R62C	p.R62C			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	1	660	+		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)	62						Missense_Mutation	SNP	ENST00000391884.1	37	c.184C>T	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811321	0.70797	0.0	3.49E-4	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.94232	-3.38;-3.38	4.26	4.26	0.50523	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.299511	0.33161	N	0.005212	D	0.94794	0.8319	M	0.64997	1.995	0.44227	D	0.997061	D	0.67145	0.996	D	0.65443	0.935	D	0.93837	0.7133	10	0.46703	T	0.11	.	10.4401	0.44460	0.0:0.8019:0.1981:0.0	.	62	Q9UNX9	IRK14_HUMAN	C	62	ENSP00000341479:R62C;ENSP00000375756:R62C	ENSP00000341479:R62C	R	+	1	0	KCNJ14	53656977	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.105000	0.31086	2.371000	0.80710	0.655000	0.94253	CGT		0.687	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		6	5	0	0	0	1	0	6	5					T	48965165	C	T	48965165	3	4	435	1	0	0	0	0	1	0	0	0	8048	768	27	1	186	1	KCNJ14	19	48965165	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	77505	48965165	10163818	8385	29310	137	2									
KCNJ14	3770	broad.mit.edu	37	chr19	48965166	48965166	+	Missense_Mutation	SNP	G	G	A																															agacgggcactgcaacgtgcGtttcgtaaacctgggtggcc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:48965166G>A	ENST00000391884.1	+	1	661	c.185G>A	c.(184-186)cGt>cAt	p.R62H	KCNJ14_ENST00000342291.2_Missense_Mutation_p.R62H			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	62					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	TGCAACGTGCGTTTCGTAAAC	0.687																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(184-186)cGt>cAt		potassium inwardly-rectifying channel, subfamily J, member 14							53	35	41					19																	48965166		2202	4300	6502	SO:0001583	missense	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48965166G>A	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.185G>A	19.37:g.48965166G>A	ENSP00000375756:p.Arg62His					KCNJ14_ENST00000342291.2_Missense_Mutation_p.R62H	p.R62H			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	1	661	+		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)	62						Missense_Mutation	SNP	ENST00000391884.1	37	c.185G>A	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670327	0.29693	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.94046	-3.34;-3.34	4.26	4.26	0.50523	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.299511	0.33161	N	0.005212	D	0.82875	0.5132	N	0.12527	0.23	0.32810	D	0.501303	B	0.22346	0.068	B	0.22386	0.039	T	0.77544	-0.2548	10	0.09590	T	0.72	.	8.2071	0.31463	0.107:0.0:0.893:0.0	.	62	Q9UNX9	IRK14_HUMAN	H	62	ENSP00000341479:R62H;ENSP00000375756:R62H	ENSP00000341479:R62H	R	+	2	0	KCNJ14	53656978	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.777000	0.62361	2.371000	0.80710	0.655000	0.94253	CGT		0.687	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		4	7	0	0	0	1	0	4	7					A	48965166	G	A	48965166	3	1	435	1	0	0	0	0	1	0	0	0	8048	1145	40	1	187	1	KCNJ14	19	48965166	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1	48965166	10163817	8386	29311	137	2									
FAM83E	54854	broad.mit.edu	37	chr19	49113195	49113195	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacttctcccgcacggtgccGctcacctgccgtcgccagcg	5	7	10	19	6	2	0	1	0	1	0	4	0	2	0	5	1	4	2	5	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49113195G>A	ENST00000263266.3	-	3	885	c.696C>T	c.(694-696)agC>agT	p.S232S		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	232								p.S232R(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCACGGTGCCGCTCACCTGCC	0.672																																						ENST00000263266.3																			1	Substitution - Missense(1)	p.S232R(1)	lung(1)	NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.(694-696)agC>agT		family with sequence similarity 83, member E							22	27	25					19																	49113195		2128	4231	6359	SO:0001819	synonymous_variant	54854							g.chr19:49113195G>A	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.696C>T	19.37:g.49113195G>A							p.S232S	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	3	885	-		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)	232					Q9NXK1	Silent	SNP	ENST00000263266.3	37	c.696C>T	CCDS42587.1																																																																																				0.672	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		14	11	0	0	0	1	0	14	11					A	49113195	G	A	49113195	2	1	435	1	0	0	0	0	0	0	0	1	5637	1078	38	1		1	FAM83E	19	49113195	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	148029	49113195	10015788	8387	29312											
FUT2	2524	broad.mit.edu	37	chr19	49206450	49206450	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaaccagatgggcgagtaCgccacactgtacgccctggc	9	5	14	13	3	0	1	0	0	0	1	0	3	0	2	3	3	3	2	3	3	3	2	rs368563249		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49206450C>T	ENST00000425340.2	+	2	354	c.237C>T	c.(235-237)taC>taT	p.Y79Y	FUT2_ENST00000391876.4_Silent_p.Y79Y	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	79					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		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)		TGGGCGAGTACGCCACACTGT	0.632																																						ENST00000425340.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(235-237)taC>taT		fucosyltransferase 2 (secretor status included)		C	,	0,4406		0,0,2203	53	49	51		237,237	-1.9	1	19		51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FUT2	NM_000511.5,NM_001097638.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	79/344,79/344	49206450	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2524				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49206450C>T		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"Fucosyltransferases"	4013	protein-coding gene	gene with protein product	"alpha (1,2) fucosyltransferase", "galactoside 2-alpha-L-fucosyltransferase 2", "GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2", "alpha(1,2)FT2", "secretor factor", "secretor blood group alpha-2-fucosyltransferase"	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.237C>T	19.37:g.49206450C>T						FUT2_ENST00000391876.4_Silent_p.Y79Y	p.Y79Y	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)	2	354	+		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)	79					Q0VAG5|Q14338|Q5D0G2	Silent	SNP	ENST00000425340.2	37	c.237C>T	CCDS33069.1																																																																																				0.632	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		5	9	0	0	0	1	0	5	9					T	49206450	C	T	49206450	2	4	435	1	0	0	0	0	0	0	0	1	6104	547	19	1		1	FUT2	19	49206450	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	93255	49206450	9922533	8388	29313											
RASIP1	54922	broad.mit.edu	37	chr19	49238616	49238616	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgtctccgctcctgcTgccgccgccgccgcccctga	1	8	10	22	5	1	1	0	1	1	0	3	1	2	1	9	0	3	3	9	0	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49238616T>C	ENST00000222145.4	-	4	1220	c.1016A>G	c.(1015-1017)cAg>cGg	p.Q339R	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	339					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				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)		CCGCTCCTGCTGCCGCCGCCG	0.657																																						ENST00000222145.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21						c.(1015-1017)cAg>cGg		Ras interacting protein 1							21	22	22					19																	49238616		2201	4298	6499	SO:0001583	missense	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49238616T>C	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1016A>G	19.37:g.49238616T>C	ENSP00000222145:p.Gln339Arg					RASIP1_ENST00000594232.1_5'UTR	p.Q339R	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	4	1220	-		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)	339					Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	c.1016A>G	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046298	0.55110	.	.	ENSG00000105538	ENST00000222145	T	0.07216	3.21	5.27	5.27	0.74061	.	0.309004	0.30901	N	0.008659	T	0.09069	0.0224	L	0.40543	1.245	0.30641	N	0.75642	P	0.37864	0.61	B	0.37989	0.262	T	0.04509	-1.0946	10	0.48119	T	0.1	-10.7772	11.8741	0.52537	0.0:0.0:0.0:1.0	.	339	Q5U651	RAIN_HUMAN	R	339	ENSP00000222145:Q339R	ENSP00000222145:Q339R	Q	-	2	0	RASIP1	53930428	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.450000	0.35134	2.126000	0.65437	0.459000	0.35465	CAG		0.657	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		8	12	0	0	0	1	0	8	12					C	49238616	T	C	49238616	3	2	435	1	0	0	0	0	1	0	0	0	13078	1580	55	4	1911	4	RASIP1	19	49238616	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	32166	49238616	9890367	8389	29314											
IZUMO1	284359	broad.mit.edu	37	chr19	49244260	49244260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgaggatttgatgaaatCgatcaccttccttcgacgaa	12	11	9	9	3	1	3	1	3	0	0	4	7	2	4	2	1	0	0	2	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49244260C>T	ENST00000332955.2	-	10	1505	c.958G>A	c.(958-960)Gat>Aat	p.D320N	RASIP1_ENST00000594232.1_5'Flank|RASIP1_ENST00000222145.4_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	320					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTGATGAAATCGATCACCTTC	0.517																																						ENST00000332955.2																			0				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(958-960)Gat>Aat		izumo sperm-egg fusion 1							118	104	109					19																	49244260		2203	4300	6503	SO:0001583	missense	284359				fusion of sperm to egg plasma membrane	integral to membrane		g.chr19:49244260C>T	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"-"	28539	protein-coding gene	gene with protein product	"oocyte binding/fusion factor"	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.958G>A	19.37:g.49244260C>T	ENSP00000327786:p.Asp320Asn						p.D320N	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	10	1505	-		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)	320					Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	c.958G>A	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	C	9.996	1.232155	0.22626	.	.	ENSG00000182264	ENST00000332955	T	0.26660	1.72	3.11	-1.93	0.07594	.	3.286190	0.01067	N	0.004759	T	0.12860	0.0312	N	0.19112	0.55	0.09310	N	1	B	0.28470	0.213	B	0.15870	0.014	T	0.08351	-1.0726	10	0.12430	T	0.62	0.0495	3.5485	0.07837	0.0:0.4402:0.1948:0.365	.	320	Q8IYV9	IZUM1_HUMAN	N	320	ENSP00000327786:D320N	ENSP00000327786:D320N	D	-	1	0	IZUMO1	53936072	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.629000	0.05508	-0.218000	0.10018	-0.150000	0.13652	GAT		0.517	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575		27	32	0	0	0	1	0	27	32					T	49244260	C	T	49244260	3	4	435	1	0	0	0	0	1	0	0	0	7933	884	31	2	98	2	IZUMO1	19	49244260	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5644	49244260	9884723	8390	29315											
BCAT2	587	broad.mit.edu	37	chr19	49303237	49303237	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccctggagttgggcccaCctcgttcccaatgagcacag	8	7	11	15	1	0	1	0	1	0	0	2	2	1	2	4	2	2	3	4	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49303237C>T	ENST00000316273.6	-	5	544		c.e5+1		BCAT2_ENST00000545387.2_Splice_Site|BCAT2_ENST00000597011.1_Splice_Site|BCAT2_ENST00000402551.1_Splice_Site|BCAT2_ENST00000599246.1_Splice_Site|BCAT2_ENST00000598162.1_Splice_Site	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial						branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	GTTGGGCCCACCTCGTTCCCA	0.682																																						ENST00000402551.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12						c.e6+1		branched chain amino-acid transaminase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)						20	23	22					19																	49303237		2202	4298	6500	SO:0001630	splice_region_variant	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49303237C>T	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"branched chain aminotransferase 2, mitochondrial"	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.531+1G>A	19.37:g.49303237C>T						BCAT2_ENST00000598162.1_Splice_Site|BCAT2_ENST00000597011.1_Splice_Site|BCAT2_ENST00000545387.2_Splice_Site|BCAT2_ENST00000599246.1_Splice_Site|BCAT2_ENST00000316273.6_Splice_Site				O15382	BCAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	6	1032	-		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)						B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Splice_Site	SNP	ENST00000316273.6	37		CCDS12735.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819477	0.32145	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	.	.	.	4.86	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3758	0.55279	0.17:0.8299:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BCAT2	53995049	1.000000	0.71417	0.956000	0.39512	0.099000	0.18886	7.070000	0.76763	1.125000	0.41998	0.561000	0.74099	.		0.682	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1		Intron	7	19	0	0	0	1	0	7	19					T	49303237	C	T	49303237	5	4	435	1	0	0	0	0	0	0	1	0	1355	521	18	3	674	3	BCAT2	19	49303237	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	58977	49303237	9825746	8391	29316											
BCAT2	587	broad.mit.edu	37	chr19	49309972	49309972	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttccagctgcaggtctgcAgcctgaggaaagacaggggt	10	8	14	9	0	1	2	0	1	1	1	2	3	2	3	2	4	4	3	2	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49309972A>G	ENST00000316273.6	-	3	114	c.102T>C	c.(100-102)gcT>gcC	p.A34A	BCAT2_ENST00000545387.2_Intron|BCAT2_ENST00000597011.1_5'UTR|BCAT2_ENST00000402551.1_5'UTR|BCAT2_ENST00000601496.1_5'Flank|BCAT2_ENST00000599246.1_Intron|BCAT2_ENST00000598162.1_Silent_p.A34A	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	34					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)	p.A35fs*7(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	GCAGGTCTGCAGCCTGAGGAA	0.547																																						ENST00000316273.6																			1	Deletion - Frameshift(1)	p.A35fs*7(1)	ovary(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12						c.(100-102)gcT>gcC		branched chain amino-acid transaminase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)						53	54	54					19																	49309972		2203	4300	6503	SO:0001819	synonymous_variant	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49309972A>G	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"branched chain aminotransferase 2, mitochondrial"	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.102T>C	19.37:g.49309972A>G						BCAT2_ENST00000598162.1_Silent_p.A34A|BCAT2_ENST00000597011.1_5'UTR|BCAT2_ENST00000545387.2_Intron|BCAT2_ENST00000402551.1_5'UTR|BCAT2_ENST00000599246.1_Intron	p.A34A	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	3	114	-		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)	34					B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Silent	SNP	ENST00000316273.6	37	c.102T>C	CCDS12735.1																																																																																				0.547	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			22	22	0	0	0	1	0	22	22					G	49309972	A	G	49309972	2	3	435	1	0	0	0	0	0	0	0	1	1355	175	7	4		4	BCAT2	19	49309972	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	6735	49309972	9819011	8392	29317											
PLEKHA4	57664	broad.mit.edu	37	chr19	49362848	49362848	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccggtgattctgagatGcgcccctcttcccctctgct	4	13	8	16	2	3	2	0	2	3	1	5	3	5	2	5	1	2	1	5	1	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49362848G>A	ENST00000263265.6	-	7	1125	c.570C>T	c.(568-570)cgC>cgT	p.R190R	PLEKHA4_ENST00000355496.5_Silent_p.R190R|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	190	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			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)		ATTCTGAGATGCGCCCCTCTT	0.677																																						ENST00000263265.6																			0				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						c.(568-570)cgC>cgT		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							62	49	53					19																	49362848		2203	4300	6503	SO:0001819	synonymous_variant	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49362848G>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.570C>T	19.37:g.49362848G>A						PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Silent_p.R190R	p.R190R	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	7	1125	-		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)	190			Pro-rich.		Q8N4M8|Q8N658	Silent	SNP	ENST00000263265.6	37	c.570C>T	CCDS12737.1																																																																																				0.677	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			23	37	0	0	0	1	0	23	37					A	49362848	G	A	49362848	2	1	435	1	0	0	0	0	0	0	0	1	12058	1306	46	3		3	PLEKHA4	19	49362848	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	52876	49362848	9766135	8393	29318											
PLEKHA4	57664	broad.mit.edu	37	chr19	49363659	49363659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcgcccgtagccagccccGcaggtcttctaaggtgtcag	7	7	12	15	3	3	0	1	0	2	0	3	0	3	0	4	2	3	2	4	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49363659G>A	ENST00000263265.6	-	6	979	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R142W|PLEKHA4_ENST00000596713.1_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	142	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			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)		AGCCAGCCCCGCAGGTCTTCT	0.652																																						ENST00000263265.6																			0				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						c.(424-426)Cgg>Tgg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							55	59	58					19																	49363659		2203	4300	6503	SO:0001583	missense	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49363659G>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.424C>T	19.37:g.49363659G>A	ENSP00000263265:p.Arg142Trp					PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R142W	p.R142W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	6	979	-		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)	142			PH.		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.424C>T	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287922	0.80803	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.76578	-1.03;-1.03	4.46	0.633	0.17712	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.328142	0.25402	N	0.030933	D	0.83788	0.5330	M	0.62723	1.935	0.33118	D	0.541429	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.85623	0.1265	10	0.87932	D	0	.	10.8462	0.46744	0.0:0.0:0.3926:0.6074	.	142;142	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	W	142	ENSP00000263265:R142W;ENSP00000347683:R142W	ENSP00000263265:R142W	R	-	1	2	PLEKHA4	54055471	0.988000	0.35896	0.998000	0.56505	0.991000	0.79684	0.387000	0.20718	0.099000	0.17552	0.462000	0.41574	CGG		0.652	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			29	45	0	0	0	1	0	29	45					A	49363659	G	A	49363659	3	1	435	1	0	0	0	0	1	0	0	0	12058	1086	38	1	1975	1	PLEKHA4	19	49363659	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	811	49363659	9765324	8394	29319											
PLEKHA4	57664	broad.mit.edu	37	chr19	49363689	49363689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaggtgtcagcggccaaaaCgtaggtcctcatgcccgggt	9	8	13	11	3	2	0	2	0	0	0	3	0	3	0	3	4	3	1	3	4	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49363689C>T	ENST00000263265.6	-	6	949	c.394G>A	c.(394-396)Gtt>Att	p.V132I	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.V132I|PLEKHA4_ENST00000596713.1_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	132	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			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)		GCGGCCAAAACGTAGGTCCTC	0.652																																						ENST00000263265.6																			0				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						c.(394-396)Gtt>Att		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							58	58	58					19																	49363689		2203	4300	6503	SO:0001583	missense	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49363689C>T	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.394G>A	19.37:g.49363689C>T	ENSP00000263265:p.Val132Ile					PLEKHA4_ENST00000355496.5_Missense_Mutation_p.V132I	p.V132I	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	6	949	-		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)	132			PH.		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.394G>A	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601811	0.46423	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.12465	2.68;2.68	4.46	4.46	0.54185	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.294371	0.26075	N	0.026495	T	0.10465	0.0256	N	0.13327	0.33	0.31312	N	0.687074	P;P	0.44659	0.84;0.799	B;P	0.44696	0.225;0.458	T	0.04053	-1.0981	10	0.31617	T	0.26	.	12.8046	0.57605	0.0:1.0:0.0:0.0	.	132;132	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	I	132	ENSP00000263265:V132I;ENSP00000347683:V132I	ENSP00000263265:V132I	V	-	1	0	PLEKHA4	54055501	0.899000	0.30636	0.988000	0.46212	0.996000	0.88848	1.408000	0.34668	2.492000	0.84095	0.462000	0.41574	GTT		0.652	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			26	30	0	0	0	1	0	26	30					T	49363689	C	T	49363689	3	4	435	1	0	0	0	0	1	0	0	0	12058	536	19	1	2005	1	PLEKHA4	19	49363689	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30	49363689	9765294	8395	29320											
NUCB1	4924	broad.mit.edu	37	chr19	49409102	49409102	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggaggtgtcacggctgcgGatgctgctcaaggccaagat	9	7	15	10	2	2	1	2	0	0	1	2	3	2	3	1	5	3	3	1	5	2	0	rs371520715		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49409102G>A	ENST00000405315.4	+	4	670	c.336G>A	c.(334-336)cgG>cgA	p.R112R	NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000263273.5_Silent_p.R112R|NUCB1_ENST00000407032.1_Silent_p.R112R	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	112						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			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)		CACGGCTGCGGATGCTGCTCA	0.657																																						ENST00000405315.4																			0				cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17						c.(334-336)cgG>cgA		nucleobindin 1							39	37	38					19																	49409102		2203	4300	6503	SO:0001819	synonymous_variant	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49409102G>A	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"EF-hand domain containing"	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.336G>A	19.37:g.49409102G>A						NUCB1_ENST00000407032.1_Silent_p.R112R|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000263273.5_Silent_p.R112R	p.R112R	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	4	670	+		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)	112					B2RD64|Q15838|Q7Z4J7|Q9BUR1	Silent	SNP	ENST00000405315.4	37	c.336G>A	CCDS12740.1																																																																																				0.657	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		12	18	0	0	0	1	0	12	18					A	49409102	G	A	49409102	2	1	435	1	0	0	0	0	0	0	0	1	10718	1161	41	3		3	NUCB1	19	49409102	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	45413	49409102	9719881	8396	29321											
NUCB1	4924	broad.mit.edu	37	chr19	49416276	49416276	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctttccccaggccacccgGgaccttgcccagtacgacgc	6	6	10	19	3	0	0	0	0	0	0	1	2	1	1	7	2	2	1	7	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49416276G>A	ENST00000405315.4	+	6	823	c.489G>A	c.(487-489)cgG>cgA	p.R163R	NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000263273.5_Silent_p.R163R|NUCB1_ENST00000407032.1_Silent_p.R163R|NUCB1-AS1_ENST00000416432.1_RNA	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	163						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			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)		AGGCCACCCGGGACCTTGCCC	0.607																																						ENST00000405315.4																			0				cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17						c.(487-489)cgG>cgA		nucleobindin 1							87	76	79					19																	49416276		2203	4300	6503	SO:0001819	synonymous_variant	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49416276G>A	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"EF-hand domain containing"	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.489G>A	19.37:g.49416276G>A						NUCB1_ENST00000407032.1_Silent_p.R163R|NUCB1_ENST00000485798.1_Intron|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000263273.5_Silent_p.R163R	p.R163R	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	6	823	+		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)	163					B2RD64|Q15838|Q7Z4J7|Q9BUR1	Silent	SNP	ENST00000405315.4	37	c.489G>A	CCDS12740.1	.	.	.	.	.	.	.	.	.	.	G	9.143	1.014245	0.19277	.	.	ENSG00000104805	ENST00000424608	.	.	.	5.07	-1.23	0.09465	.	.	.	.	.	T	0.39358	0.1075	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24476	-1.0159	4	.	.	.	.	1.2391	0.01959	0.161:0.2678:0.297:0.2743	.	.	.	.	E	133	.	.	G	+	2	0	NUCB1	54108088	0.946000	0.32159	0.994000	0.49952	0.818000	0.46254	-0.011000	0.12721	-0.249000	0.09569	-0.346000	0.07831	GGG		0.607	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		8	22	0	0	0	1	0	8	22					A	49416276	G	A	49416276	2	1	435	1	0	0	0	0	0	0	0	1	10718	1219	43	3		3	NUCB1	19	49416276	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7174	49416276	9712707	8397	29322											
GYS1	2997	broad.mit.edu	37	chr19	49490492	49490492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaaagccaaagaggacagCgtcgttggcctcgcggtcgt	10	6	14	11	5	0	2	0	0	0	2	3	3	0	3	2	3	2	1	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49490492C>T	ENST00000323798.3	-	3	647	c.451G>A	c.(451-453)Gct>Act	p.A151T	GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_Missense_Mutation_p.A71T|GYS1_ENST00000540532.1_Missense_Mutation_p.A71T|GYS1_ENST00000263276.6_Intron|GYS1_ENST00000457974.1_5'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	151					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AAGAGGACAGCGTCGTTGGCC	0.607																																						ENST00000323798.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(451-453)Gct>Act		glycogen synthase 1 (muscle)							89	68	75					19																	49490492		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49490492C>T		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.451G>A	19.37:g.49490492C>T	ENSP00000317904:p.Ala151Thr					GYS1_ENST00000544287.1_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000540532.1_Missense_Mutation_p.A71T|GYS1_ENST00000541188.1_Missense_Mutation_p.A71T|GYS1_ENST00000263276.6_Intron	p.A151T	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	3	647	-		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)	151					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.451G>A	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193954	0.58017	.	.	ENSG00000104812	ENST00000323798;ENST00000541188;ENST00000540532;ENST00000457974	T;T;T	0.68181	-0.31;-0.31;-0.31	3.82	3.82	0.43975	.	0.056312	0.64402	D	0.000001	T	0.61413	0.2345	L	0.35793	1.09	0.58432	D	0.999999	B;P	0.51653	0.128;0.947	B;P	0.47827	0.055;0.558	T	0.60606	-0.7230	10	0.30854	T	0.27	-12.7705	14.0486	0.64719	0.0:1.0:0.0:0.0	.	71;151	B7Z806;P13807	.;GYS1_HUMAN	T	151;71;71;150	ENSP00000317904:A151T;ENSP00000437922:A71T;ENSP00000445197:A71T	ENSP00000317904:A151T	A	-	1	0	GYS1	54182304	0.997000	0.39634	0.967000	0.41034	0.943000	0.58893	3.512000	0.53407	2.088000	0.63022	0.557000	0.71058	GCT		0.607	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		6	11	0	0	0	1	0	6	11					T	49490492	C	T	49490492	3	4	435	1	0	0	0	0	1	0	0	0	6912	768	27	1	1818	1	GYS1	19	49490492	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	74216	49490492	9638491	8398	29323											
GYS1	2997	broad.mit.edu	37	chr19	49494707	49494707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcgtcccctgtcaccttcGccttcgtctgcagcaccgtg	4	12	8	17	4	2	0	1	0	1	0	6	0	3	0	5	0	2	2	5	0	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49494707G>A	ENST00000323798.3	-	2	348	c.152C>T	c.(151-153)gCg>gTg	p.A51V	RUVBL2_ENST00000595090.1_5'Flank|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_Intron|RUVBL2_ENST00000413176.2_5'Flank|RUVBL2_ENST00000601968.1_5'Flank|GYS1_ENST00000540532.1_Intron|GYS1_ENST00000263276.6_Missense_Mutation_p.A51V|GYS1_ENST00000457974.1_5'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	51					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGTCACCTTCGCCTTCGTCTG	0.672																																						ENST00000323798.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(151-153)gCg>gTg		glycogen synthase 1 (muscle)							116	129	125					19																	49494707		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49494707G>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.152C>T	19.37:g.49494707G>A	ENSP00000317904:p.Ala51Val					GYS1_ENST00000544287.1_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000540532.1_Intron|GYS1_ENST00000541188.1_Intron|GYS1_ENST00000263276.6_Missense_Mutation_p.A51V	p.A51V	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	2	348	-		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)	51					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.152C>T	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472560	0.63737	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000457974	T;T	0.77877	-0.63;-1.13	5.0	3.97	0.46021	.	0.051301	0.85682	D	0.000000	D	0.83613	0.5292	M	0.62209	1.925	0.80722	D	1	P;D	0.71674	0.593;0.998	B;D	0.65010	0.124;0.931	D	0.83365	0.0004	10	0.46703	T	0.11	-26.5184	11.4877	0.50363	0.089:0.0:0.911:0.0	.	51;51	Q9BTT9;P13807	.;GYS1_HUMAN	V	51;51;50	ENSP00000317904:A51V;ENSP00000263276:A51V	ENSP00000263276:A51V	A	-	2	0	GYS1	54186519	1.000000	0.71417	0.991000	0.47740	0.693000	0.40251	9.176000	0.94839	1.259000	0.44117	-0.229000	0.12294	GCG		0.672	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		54	84	0	0	0	1	0	54	84					A	49494707	G	A	49494707	3	1	435	1	0	0	0	0	1	0	0	0	6912	1087	38	1	2121	1	GYS1	19	49494707	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4215	49494707	9634276	8399	29324											
RUVBL2	10856	broad.mit.edu	37	chr19	49507653	49507653	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgctggccagccgggcacGgggaagacggccatcgccat	8	5	15	13	4	0	1	0	0	0	1	1	2	0	2	4	5	2	2	4	5	1	1	rs377545771		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49507653G>A	ENST00000595090.1	+	4	707	c.243G>A	c.(241-243)acG>acA	p.T81T	RUVBL2_ENST00000413176.2_Silent_p.T36T|RUVBL2_ENST00000601968.1_Silent_p.T36T	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	81					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		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)		AGCCGGGCACGGGGAAGACGG	0.617																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(106-108)acG>acA		RuvB-like AAA ATPase 2		G		1,3881		0,1,1940	47	53	51		243	-9.9	0	19		51	0,8286		0,0,4143	no	coding-synonymous	RUVBL2	NM_006666.1		0,1,6083	AA,AG,GG		0.0,0.0258,0.0082		81/464	49507653	1,12167	1941	4143	6084	SO:0001819	synonymous_variant	10856				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	g.chr19:49507653G>A	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.243G>A	19.37:g.49507653G>A						RUVBL2_ENST00000595090.1_Silent_p.T81T|RUVBL2_ENST00000601968.1_Silent_p.T36T	p.T36T			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	4	1256	+		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)	81					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Silent	SNP	ENST00000595090.1	37	c.108G>A	CCDS42588.1																																																																																				0.617	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			7	57	0	0	0	1	0	7	57					A	49507653	G	A	49507653	2	1	435	1	0	0	0	0	0	0	0	1	13753	1103	39	2		2	RUVBL2	19	49507653	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12946	49507653	9621330	8400	29325											
RUVBL2	10856	broad.mit.edu	37	chr19	49510398	49510398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggcggtccatcggcgttcGcatcaagtaagcgggggacc	7	6	15	13	6	1	0	1	0	0	0	4	1	2	1	3	5	1	3	3	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49510398G>A	ENST00000595090.1	+	5	853	c.389G>A	c.(388-390)cGc>cAc	p.R130H	RUVBL2_ENST00000413176.2_Missense_Mutation_p.R85H|RUVBL2_ENST00000601968.1_Missense_Mutation_p.R85H	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	130					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		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)		ATCGGCGTTCGCATCAAGTAA	0.657																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(253-255)cGc>cAc		RuvB-like AAA ATPase 2							36	40	39					19																	49510398		1939	4129	6068	SO:0001583	missense	10856				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	g.chr19:49510398G>A	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.389G>A	19.37:g.49510398G>A	ENSP00000473172:p.Arg130His					RUVBL2_ENST00000595090.1_Missense_Mutation_p.R130H|RUVBL2_ENST00000601968.1_Missense_Mutation_p.R85H	p.R85H			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	5	1402	+		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)	130					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.254G>A	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829808	0.71258	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.58652	0.32;0.55	5.33	5.33	0.75918	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.81740	0.4886	H	0.94542	3.55	0.80722	D	1	D;P;D	0.89917	1.0;0.458;0.999	D;B;D	0.65233	0.926;0.07;0.933	D	0.86680	0.1916	10	0.72032	D	0.01	-22.1592	16.8831	0.86068	0.0:0.0:1.0:0.0	.	130;130;96	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	H	130;85	ENSP00000221413:R130H;ENSP00000413890:R85H	ENSP00000221413:R130H	R	+	2	0	RUVBL2	54202210	1.000000	0.71417	0.985000	0.45067	0.551000	0.35334	8.874000	0.92363	2.667000	0.90743	0.561000	0.74099	CGC		0.657	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			22	27	0	0	0	1	0	22	27					A	49510398	G	A	49510398	3	1	435	1	0	0	0	0	1	0	0	0	13753	1087	38	1	407	1	RUVBL2	19	49510398	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2745	49510398	9618585	8401	29326											
KCNA7	3743	broad.mit.edu	37	chr19	49573733	49573733	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagaggaccacaccgatgaAgaggaaaaagatgaggaggc	19	2	14	6	1	0	5	0	2	0	3	0	9	0	8	2	4	0	0	2	4	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49573733A>G	ENST00000221444.1	-	2	1313	c.958T>C	c.(958-960)Ttc>Ctc	p.F320L		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	320					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	ACACCGATGAAGAGGAAAAAG	0.582																																					Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(958-960)Ttc>Ctc		potassium voltage-gated channel, shaker-related subfamily, member 7							52	53	53					19																	49573733		2203	4300	6503	SO:0001583	missense	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49573733A>G	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.958T>C	19.37:g.49573733A>G	ENSP00000221444:p.Phe320Leu						p.F320L	NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	2	1313	-		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)	320					A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	c.958T>C	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.962140	0.53400	.	.	ENSG00000104848	ENST00000221444	D	0.98150	-4.75	4.65	3.62	0.41486	Ion transport (1);	0.051718	0.85682	D	0.000000	D	0.93311	0.7868	N	0.17474	0.49	0.51482	D	0.999921	B	0.16603	0.018	B	0.16722	0.016	D	0.88725	0.3232	10	0.46703	T	0.11	.	10.7321	0.46102	0.8394:0.1606:0.0:0.0	.	320	Q96RP8	KCNA7_HUMAN	L	320	ENSP00000221444:F320L	ENSP00000221444:F320L	F	-	1	0	KCNA7	54265545	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.366000	0.59492	0.737000	0.32582	0.402000	0.26972	TTC		0.582	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		4	9	0	0	0	1	0	4	9					G	49573733	A	G	49573733	3	3	435	1	0	0	0	0	1	0	0	0	8008	72	3	4	416	4	KCNA7	19	49573733	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	63335	49573733	9555250	8402	29327											
PPFIA3	8541	broad.mit.edu	37	chr19	49643082	49643082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagatgggggacccccacGgggaaggtcagcagggacaa	12	2	18	9	1	1	1	1	0	0	1	1	5	1	5	2	7	1	1	2	7	3	0	rs531660941		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49643082G>A	ENST00000334186.4	+	17	2583	c.2234G>A	c.(2233-2235)cGg>cAg	p.R745Q	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R745Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	745					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGACCCCCACGGGGAAGGTCA	0.642													g|||	1	0.000199681	0	0.0014	5008	,	,		15975	0		0	False		,,,				2504	0					ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(2233-2235)cGg>cAg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							29	33	32					19																	49643082		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49643082G>A	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2234G>A	19.37:g.49643082G>A	ENSP00000335614:p.Arg745Gln					PPFIA3_ENST00000602351.1_Missense_Mutation_p.R745Q	p.R745Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	17	2583	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	745					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.2234G>A	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	g	14.36	2.513354	0.44660	.	.	ENSG00000177380	ENST00000334186	T	0.21361	2.01	4.31	4.31	0.51392	.	0.181585	0.25436	U	0.030698	T	0.24084	0.0583	M	0.61703	1.905	0.80722	D	1	B;B	0.31040	0.087;0.305	B;B	0.29353	0.101;0.082	T	0.05146	-1.0903	10	0.30854	T	0.27	-12.3853	15.9305	0.79656	0.0:0.0:1.0:0.0	.	745;745	O75145-2;O75145	.;LIPA3_HUMAN	Q	745	ENSP00000335614:R745Q	ENSP00000335614:R745Q	R	+	2	0	PPFIA3	54334894	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.968000	0.63728	2.112000	0.64535	0.552000	0.68991	CGG		0.642	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		12	14	0	0	0	1	0	12	14					A	49643082	G	A	49643082	3	1	435	1	0	0	0	0	1	0	0	0	12311	1116	39	2	2296	2	PPFIA3	19	49643082	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	69349	49643082	9485901	8403	29328											
HRC	3270	broad.mit.edu	37	chr19	49656894	49656894	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtcttcctcttcttccTcctcctggttcaggctgagg	2	16	8	15	0	4	1	1	1	3	0	8	1	8	1	5	3	0	2	5	3	0	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49656894T>C	ENST00000252825.4	-	1	1787	c.1601A>G	c.(1600-1602)gAg>gGg	p.E534G	HRC_ENST00000595625.1_Missense_Mutation_p.E534G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	534					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			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)		ctcttcttcctcctcctGGTT	0.597																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(1600-1602)gAg>gGg		histidine rich calcium binding protein							64	38	47					19																	49656894		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49656894T>C		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1601A>G	19.37:g.49656894T>C	ENSP00000252825:p.Glu534Gly					HRC_ENST00000595625.1_Missense_Mutation_p.E534G	p.E534G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1787	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	534					Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.1601A>G	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.215295	0.39102	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.50813	0.73	3.29	3.29	0.37713	.	.	.	.	.	T	0.48714	0.1515	L	0.46157	1.445	0.26365	N	0.976987	D	0.55172	0.97	P	0.51297	0.665	T	0.33266	-0.9875	9	0.51188	T	0.08	.	8.5807	0.33626	0.0:0.0:0.0:1.0	.	534	P23327	SRCH_HUMAN	G	534;233	ENSP00000252825:E534G	ENSP00000252825:E534G	E	-	2	0	HRC	54348706	0.243000	0.23878	0.991000	0.47740	0.202000	0.24057	1.163000	0.31798	1.467000	0.48044	0.379000	0.24179	GAG		0.597	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		7	17	0	0	0	1	0	7	17					C	49656894	T	C	49656894	3	2	435	1	0	0	0	0	1	0	0	0	7352	1551	54	4	522	4	HRC	19	49656894	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	13812	49656894	9472089	8404	29329											
HRC	3270	broad.mit.edu	37	chr19	49657622	49657622	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgcctgtggctggggtcGcgatgatggtgtccatctga	4	11	17	9	3	1	2	0	2	1	0	3	3	2	2	2	5	1	1	2	5	0	0	rs142129715		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49657622G>A	ENST00000252825.4	-	1	1059	c.873C>T	c.(871-873)cgC>cgT	p.R291R	HRC_ENST00000595625.1_Silent_p.R291R	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	291	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			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)		GGCTGGGGTCGCGATGATGGT	0.512																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(871-873)cgC>cgT		histidine rich calcium binding protein		G		1,4405	2.1+/-5.4	0,1,2202	162	125	138		873	-5.7	0	19	dbSNP_134	138	0,8600		0,0,4300	no	coding-synonymous	HRC	NM_002152.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		291/700	49657622	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657622G>A		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.873C>T	19.37:g.49657622G>A						HRC_ENST00000595625.1_Silent_p.R291R	p.R291R	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1059	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	291			4 X tandem repeats, acidic.|6 X approximate tandem repeats.		Q504Y6	Silent	SNP	ENST00000252825.4	37	c.873C>T	CCDS12759.1																																																																																				0.512	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		20	37	0	0	0	1	0	20	37					A	49657622	G	A	49657622	2	1	435	1	0	0	0	0	0	0	0	1	7352	1074	38	1		1	HRC	19	49657622	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	728	49657622	9471361	8405	29330											
TRPM4	54795	broad.mit.edu	37	chr19	49713566	49713566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcggcccgcgctggccccgCcctttatcgtcatctcccac	3	9	8	21	5	2	0	1	0	1	0	5	0	2	0	5	2	0	1	5	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49713566C>T	ENST00000252826.5	+	21	3358	c.3232C>T	c.(3232-3234)Ccc>Tcc	p.P1078S	TRPM4_ENST00000355712.5_Missense_Mutation_p.P724S|TRPM4_ENST00000427978.2_Missense_Mutation_p.P933S	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1078	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCTGGCCCCGCCCTTTATCGT	0.627																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(3232-3234)Ccc>Tcc		transient receptor potential cation channel, subfamily M, member 4							58	58	58					19																	49713566		2203	4300	6503	SO:0001583	missense	54795				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	g.chr19:49713566C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3232C>T	19.37:g.49713566C>T	ENSP00000252826:p.Pro1078Ser					TRPM4_ENST00000427978.2_Missense_Mutation_p.P933S|TRPM4_ENST00000355712.5_Missense_Mutation_p.P724S	p.P1078S	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	21	3358	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	1078			Calmodulin-binding.		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.3232C>T	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393412	0.83011	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.55052	0.54;0.54;0.54	5.34	4.29	0.51040	.	0.055479	0.64402	D	0.000001	T	0.79528	0.4461	H	0.94306	3.52	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.936;0.959;0.959;0.999	D	0.85767	0.1353	10	0.87932	D	0	-31.6284	14.5082	0.67767	0.1485:0.8515:0.0:0.0	.	724;904;933;1078	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	S	1078;933;724	ENSP00000252826:P1078S;ENSP00000407492:P933S;ENSP00000347944:P724S	ENSP00000252826:P1078S	P	+	1	0	TRPM4	54405378	1.000000	0.71417	0.997000	0.53966	0.681000	0.39784	7.401000	0.79962	1.365000	0.46057	-0.500000	0.04577	CCC		0.627	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		18	31	0	0	0	1	0	18	31					T	49713566	C	T	49713566	3	4	435	1	0	0	0	0	1	0	0	0	16585	739	26	3	3314	3	TRPM4	19	49713566	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	55944	49713566	9415417	8406	29331											
SLC6A16	28968	broad.mit.edu	37	chr19	49793460	49793460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttttgaacctctttactggGtgttagctggtgacttaggg	6	16	12	7	0	1	2	0	2	1	0	1	2	1	2	1	3	3	2	1	3	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49793460G>A	ENST00000335875.4	-	12	2372	c.2131C>T	c.(2131-2133)Ccc>Tcc	p.P711S	SLC6A16_ENST00000454748.3_3'UTR	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	711					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		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)		TCTTTACTGGGTGTTAGCTGG	0.448																																						ENST00000335875.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2131-2133)Ccc>Tcc		solute carrier family 6, member 16							170	160	163					19																	49793460		1888	4124	6012	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49793460G>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.2131C>T	19.37:g.49793460G>A	ENSP00000338627:p.Pro711Ser					SLC6A16_ENST00000454748.3_3'UTR	p.P711S	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	12	2372	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	711					Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.2131C>T	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	G	6.956	0.546255	0.13312	.	.	ENSG00000063127	ENST00000335875	T	0.74209	-0.82	3.8	-1.85	0.07784	.	318.091000	0.00166	N	0.000000	T	0.56514	0.1990	N	0.24115	0.695	0.09310	N	1	B	0.22800	0.075	B	0.16289	0.015	T	0.36768	-0.9734	10	0.44086	T	0.13	.	0.642	0.00812	0.1781:0.1848:0.3032:0.3338	.	711	Q9GZN6	S6A16_HUMAN	S	711	ENSP00000338627:P711S	ENSP00000338627:P711S	P	-	1	0	SLC6A16	54485272	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.343000	0.07791	-0.228000	0.09869	0.591000	0.81541	CCC		0.448	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		47	74	0	0	0	1	0	47	74					A	49793460	G	A	49793460	3	1	435	1	0	0	0	0	1	0	0	0	14679	1261	44	3	83	3	SLC6A16	19	49793460	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	79894	49793460	9335523	8407	29332											
SLC6A16	28968	broad.mit.edu	37	chr19	49814513	49814513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaacccttgtcttcccacGtttgacttcctgggacactg	7	13	8	13	1	1	2	0	2	1	0	3	3	3	3	3	1	1	1	3	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49814513G>A	ENST00000335875.4	-	2	333	c.92C>T	c.(91-93)aCg>aTg	p.T31M	SLC6A16_ENST00000454748.3_Missense_Mutation_p.T31M|MIR4324_ENST00000584846.1_RNA	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	31					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		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)		GTCTTCCCACGTTTGACTTCC	0.557																																						ENST00000454748.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(91-93)aCg>aTg		solute carrier family 6, member 16							85	82	83					19																	49814513		2015	4173	6188	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49814513G>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.92C>T	19.37:g.49814513G>A	ENSP00000338627:p.Thr31Met					SLC6A16_ENST00000335875.4_Missense_Mutation_p.T31M	p.T31M			Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	2	293	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	31					Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.92C>T	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630771	0.46944	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.74421	-0.84;-0.8	4.16	-7.19	0.01500	.	26.323400	0.00166	N	0.000000	T	0.58424	0.2121	N	0.24115	0.695	0.09310	N	1	B;B	0.31318	0.319;0.319	B;B	0.14578	0.011;0.011	T	0.55186	-0.8180	10	0.72032	D	0.01	.	13.1016	0.59222	0.759:0.0:0.241:0.0	.	31;31	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	M	31	ENSP00000338627:T31M;ENSP00000404022:T31M	ENSP00000338627:T31M	T	-	2	0	SLC6A16	54506325	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.552000	0.00927	-1.392000	0.02082	0.585000	0.79938	ACG		0.557	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		35	25	0	0	0	1	0	35	25					A	49814513	G	A	49814513	3	1	435	1	0	0	0	0	1	0	0	0	14679	1145	40	1	2162	1	SLC6A16	19	49814513	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	21053	49814513	9314470	8408	29333											
DKKL1	27120	broad.mit.edu	37	chr19	49869055	49869055	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcggatcctcacagatgacCgacaacaagacaggagaggt	15	5	11	10	2	1	4	1	1	0	3	3	7	2	5	2	3	1	0	2	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49869055C>T	ENST00000221498.2	+	4	735	c.330C>T	c.(328-330)acC>acT	p.T110T	AC010524.2_ENST00000599433.1_RNA|DKKL1_ENST00000594268.1_Intron	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	110					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CACAGATGACCGACAACAAGA	0.567																																						ENST00000221498.2																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(328-330)acC>acT		dickkopf-like 1							100	87	91					19																	49869055		2203	4300	6503	SO:0001819	synonymous_variant	27120				anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity	g.chr19:49869055C>T	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"cancer/testis antigen 34", "soggy"	605418	"dickkopf-like 1 (soggy)"			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.330C>T	19.37:g.49869055C>T						DKKL1_ENST00000594268.1_Intron	p.T110T	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)	4	735	+		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	110						Silent	SNP	ENST00000221498.2	37	c.330C>T	CCDS12762.1																																																																																				0.567	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419		3	24	0	0	0	1	0	3	24					T	49869055	C	T	49869055	2	4	435	1	0	0	0	0	0	0	0	1	4548	639	23	2		2	DKKL1	19	49869055	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	54542	49869055	9259928	8409	29334											
CCDC155	147872	broad.mit.edu	37	chr19	49897812	49897812	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaatactcaactccacgttCgaagcttgtgaccctcagag	12	9	7	13	2	2	2	2	1	0	1	4	3	3	2	2	0	3	2	2	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49897812C>T	ENST00000447857.3	+	3	328	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	41						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						ACTCCACGTTCGAAGCTTGTG	0.637																																						ENST00000447857.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(121-123)ttC>ttT		coiled-coil domain containing 155							80	83	82					19																	49897812		2085	4222	6307	SO:0001819	synonymous_variant	147872					integral to membrane	calcium ion binding	g.chr19:49897812C>T		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.123C>T	19.37:g.49897812C>T							p.F41F	NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN			3	328	+			41					Q96MC3	Silent	SNP	ENST00000447857.3	37	c.123C>T	CCDS46140.1																																																																																				0.637	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		23	50	0	0	0	1	0	23	50					T	49897812	C	T	49897812	2	4	435	1	0	0	0	0	0	0	0	1	2788	883	31	2		2	CCDC155	19	49897812	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	28757	49897812	9231171	8410	29335											
PIH1D1	55011	broad.mit.edu	37	chr19	49950633	49950633	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggcgggcgtgtacaggtcCcccagctcctggatccgagg	5	6	17	13	3	0	0	0	0	0	0	3	2	3	1	4	6	2	2	4	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49950633C>A	ENST00000262265.5	-	6	808	c.573G>T	c.(571-573)ggG>ggT	p.G191G	PIH1D1_ENST00000596049.1_Silent_p.G191G|PIH1D1_ENST00000602226.1_5'Flank	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	191					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		TGTACAGGTCCCCCAGCTCCT	0.627																																						ENST00000262265.5																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11						c.(571-573)ggG>ggT		PIH1 domain containing 1							64	68	67					19																	49950633		2203	4300	6503	SO:0001819	synonymous_variant	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49950633C>A	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.573G>T	19.37:g.49950633C>A						PIH1D1_ENST00000596049.1_Silent_p.G191G	p.G191G	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	6	808	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	191					B4DGN7|B4E2X7|Q9BVL0	Silent	SNP	ENST00000262265.5	37	c.573G>T	CCDS12765.1																																																																																				0.627	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		8	56	1	0	0.000274275	1	0.000279654	8	56					A	49950633	C	A	49950633	2	1	435	1	0	0	0	0	0	0	0	1	11906	610	22	5		5	PIH1D1	19	49950633	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	52821	49950633	9178350	8411	29336											
PIH1D1	55011	broad.mit.edu	37	chr19	49954061	49954061	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgaggctggatttgtgtCgattctggtctggttgtctg	3	16	16	6	1	3	1	0	1	3	0	4	3	3	2	0	5	0	3	0	5	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49954061C>T	ENST00000262265.5	-	2	370	c.135G>A	c.(133-135)tcG>tcA	p.S45S	PIH1D1_ENST00000596049.1_Silent_p.S45S|ALDH16A1_ENST00000540132.1_5'Flank|ALDH16A1_ENST00000293350.4_5'Flank|ALDH16A1_ENST00000455361.2_5'Flank|ALDH16A1_ENST00000433981.2_5'Flank	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	45					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GGATTTGTGTCGATTCTGGTC	0.552																																						ENST00000262265.5																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11						c.(133-135)tcG>tcA		PIH1 domain containing 1							197	172	181					19																	49954061		2203	4300	6503	SO:0001819	synonymous_variant	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49954061C>T	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.135G>A	19.37:g.49954061C>T						PIH1D1_ENST00000596049.1_Silent_p.S45S	p.S45S	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	2	370	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	45					B4DGN7|B4E2X7|Q9BVL0	Silent	SNP	ENST00000262265.5	37	c.135G>A	CCDS12765.1																																																																																				0.552	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		35	73	0	0	0	1	0	35	73					T	49954061	C	T	49954061	2	4	435	1	0	0	0	0	0	0	0	1	11906	871	31	2		2	PIH1D1	19	49954061	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3428	49954061	9174922	8412	29337											
RCN3	57333	broad.mit.edu	37	chr19	50031839	50031839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggagggtgcaccaggCggcccccctgagcgacgctc	6	3	16	16	3	0	1	0	1	0	0	1	3	0	2	5	5	2	2	5	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50031839C>T	ENST00000270645.3	+	2	557	c.110C>T	c.(109-111)gCg>gTg	p.A37V	RCN3_ENST00000593644.1_3'UTR	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	37						endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		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)		GTGCACCAGGCGGCCCCCCTG	0.642																																						ENST00000270645.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(109-111)gCg>gTg		reticulocalbin 3, EF-hand calcium binding domain							67	71	69					19																	50031839		2203	4300	6503	SO:0001583	missense	57333					endoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr19:50031839C>T	AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"EF-hand domain containing"	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.110C>T	19.37:g.50031839C>T	ENSP00000270645:p.Ala37Val					RCN3_ENST00000593644.1_3'UTR	p.A37V	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)	2	557	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	37					Q9HBZ8	Missense_Mutation	SNP	ENST00000270645.3	37	c.110C>T	CCDS12771.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208949	0.58343	.	.	ENSG00000142552	ENST00000270645	T	0.09911	2.93	4.75	-2.55	0.06288	.	0.739381	0.13199	N	0.406109	T	0.06050	0.0157	N	0.24115	0.695	0.09310	N	1	B	0.21452	0.056	B	0.13407	0.009	T	0.34725	-0.9817	10	0.39692	T	0.17	-15.097	7.54	0.27733	0.4218:0.3333:0.245:0.0	.	37	Q96D15	RCN3_HUMAN	V	37	ENSP00000270645:A37V	ENSP00000270645:A37V	A	+	2	0	RCN3	54723651	0.000000	0.05858	0.995000	0.50966	0.977000	0.68977	-0.230000	0.09083	0.058000	0.16222	0.456000	0.33151	GCG		0.642	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650		26	45	0	0	0	1	0	26	45					T	50031839	C	T	50031839	3	4	435	1	0	0	0	0	1	0	0	0	13181	768	27	1	112	1	RCN3	19	50031839	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	77778	50031839	9097144	8413	29338											
NOSIP	51070	broad.mit.edu	37	chr19	50059642	50059642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggtccaccatgtccttccGaatcagcttctccacgcatt	8	11	7	15	2	2	0	1	0	1	0	6	1	5	0	5	1	1	2	5	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50059642G>A	ENST00000596358.1	-	8	824	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	NOSIP_ENST00000339093.3_Missense_Mutation_p.R259W|NOSIP_ENST00000391853.3_Missense_Mutation_p.R256W	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	256					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		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)		ATGTCCTTCCGAATCAGCTTC	0.622																																						ENST00000391853.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11						c.(766-768)Cgg>Tgg		nitric oxide synthase interacting protein							108	83	91					19																	50059642		2203	4300	6503	SO:0001583	missense	0				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding	g.chr19:50059642G>A	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.766C>T	19.37:g.50059642G>A	ENSP00000470034:p.Arg256Trp					NOSIP_ENST00000596358.1_Missense_Mutation_p.R256W|NOSIP_ENST00000339093.3_Missense_Mutation_p.R259W	p.R256W	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)	9	917	-		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	256					Q96FD2	Missense_Mutation	SNP	ENST00000596358.1	37	c.766C>T	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935888	0.52972	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T	0.77358	-1.09	5.15	4.09	0.47781	Zinc finger, RING/FYVE/PHD-type (1);	0.147912	0.44097	D	0.000481	T	0.72676	0.3490	L	0.58101	1.795	0.42845	D	0.99406	B	0.22414	0.069	B	0.16289	0.015	T	0.71414	-0.4600	10	0.66056	D	0.02	-18.9981	11.3806	0.49754	0.0:0.0:0.5497:0.4503	.	256	Q9Y314	NOSIP_HUMAN	W	256	ENSP00000375726:R256W	ENSP00000343497:R256W	R	-	1	2	NOSIP	54751454	0.756000	0.28383	1.000000	0.80357	0.966000	0.64601	1.348000	0.33987	1.132000	0.42129	0.462000	0.41574	CGG		0.622	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1			15	17	0	0	0	1	0	15	17					A	50059642	G	A	50059642	3	1	435	1	0	0	0	0	1	0	0	0	10545	1057	37	2	147	2	NOSIP	19	50059642	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27803	50059642	9069341	8414	29339											
NOSIP	51070	broad.mit.edu	37	chr19	50062167	50062167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatcaccttcatctgccggGcaatctccttcttctggtgc	5	13	7	16	1	6	0	2	0	4	0	7	0	6	0	4	2	2	1	4	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50062167G>A	ENST00000596358.1	-	4	303	c.245C>T	c.(244-246)gCc>gTc	p.A82V	NOSIP_ENST00000339093.3_Missense_Mutation_p.A82V|NOSIP_ENST00000391853.3_Missense_Mutation_p.A82V	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	82					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		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)		CATCTGCCGGGCAATCTCCTT	0.562																																						ENST00000391853.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11						c.(244-246)gCc>gTc		nitric oxide synthase interacting protein							348	331	337					19																	50062167		2203	4300	6503	SO:0001583	missense	0				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding	g.chr19:50062167G>A	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.245C>T	19.37:g.50062167G>A	ENSP00000470034:p.Ala82Val					NOSIP_ENST00000596358.1_Missense_Mutation_p.A82V|NOSIP_ENST00000339093.3_Missense_Mutation_p.A82V	p.A82V	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)	5	396	-		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	82					Q96FD2	Missense_Mutation	SNP	ENST00000596358.1	37	c.245C>T	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337530	0.81911	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T;T	0.77750	-1.12;-1.12	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.86834	0.6028	M	0.70275	2.135	0.80722	D	1	D	0.71674	0.998	D	0.67548	0.952	D	0.87215	0.2250	10	0.51188	T	0.08	-32.6986	17.597	0.88014	0.0:0.0:1.0:0.0	.	82	Q9Y314	NOSIP_HUMAN	V	82	ENSP00000343497:A82V;ENSP00000375726:A82V	ENSP00000343497:A82V	A	-	2	0	NOSIP	54753979	1.000000	0.71417	0.983000	0.44433	0.682000	0.39822	5.663000	0.68038	2.444000	0.82710	0.462000	0.41574	GCC		0.562	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1			106	187	0	0	0	1	0	106	187					A	50062167	G	A	50062167	3	1	435	1	0	0	0	0	1	0	0	0	10545	1203	42	3	684	3	NOSIP	19	50062167	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2525	50062167	9066816	8415	29340											
PRR12	57479	broad.mit.edu	37	chr19	50097976	50097976	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcacacgccaggccccacGgagctcttcatctcgggtgc	7	7	11	16	3	3	0	1	0	2	0	4	1	3	1	3	3	3	2	3	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50097976G>T	ENST00000418929.2	+	4	396	c.384G>T	c.(382-384)acG>acT	p.T128T		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			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)		CAGGCCCCACGGAGCTCTTCA	0.677																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(382-384)acG>acT		proline rich 12							27	31	30					19																	50097976		2037	4185	6222	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50097976G>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.384G>T	19.37:g.50097976G>T							p.T128T	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	396	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	542			Pro-rich.		E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.384G>T	CCDS46143.1																																																																																				0.677	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		12	17	1	0	2.27111e-07	1	2.37911e-07	12	17					T	50097976	G	T	50097976	2	4	435	1	0	0	0	0	0	0	0	1	12584	1103	39	5		5	PRR12	19	50097976	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	35809	50097976	9031007	8416	29341											
SCAF1	58506	broad.mit.edu	37	chr19	50154650	50154650	+	Missense_Mutation	SNP	C	C	T																															gccgactcccgcccctggaaCgccgccccaggtggactcca																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50154650C>T	ENST00000360565.3	+	7	1128	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	335					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			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)		GCCCCTGGAACGCCGCCCCAG	0.701																																						ENST00000360565.3																			0				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						c.(1003-1005)aCg>aTg		SR-related CTD-associated factor 1							15	16	16					19																	50154650		2190	4290	6480	SO:0001583	missense	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50154650C>T	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.1004C>T	19.37:g.50154650C>T	ENSP00000353769:p.Thr335Met						p.T335M	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	1128	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	335					Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.1004C>T	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	C	9.388	1.074665	0.20227	.	.	ENSG00000126461	ENST00000360565	T	0.33865	1.39	4.07	3.03	0.35002	.	0.391739	0.18723	N	0.132955	T	0.27241	0.0668	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	P	0.53954	0.738	T	0.04961	-1.0915	9	.	.	.	-10.2404	5.0364	0.14436	0.0:0.665:0.2186:0.1165	.	335	Q9H7N4	SFR19_HUMAN	M	335	ENSP00000353769:T335M	.	T	+	2	0	SCAF1	54846462	0.000000	0.05858	0.012000	0.15200	0.027000	0.11550	0.202000	0.17295	2.187000	0.69744	0.591000	0.81541	ACG		0.701	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		3	8	0	0	0	1	0	3	8					T	50154650	C	T	50154650	3	4	435	1	0	0	0	0	1	0	0	0	13868	536	19	1	1026	1	SCAF1	19	50154650	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	56674	50154650	8974333	8417	29342	138	2									
SCAF1	58506	broad.mit.edu	37	chr19	50154651	50154651	+	Silent	SNP	G	G	A																															ccgactcccgcccctggaacGccgccccaggtggactccac																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50154651G>A	ENST00000360565.3	+	7	1129	c.1005G>A	c.(1003-1005)acG>acA	p.T335T		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	335					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			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)		CCCCTGGAACGCCGCCCCAGG	0.701																																						ENST00000360565.3																			0				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						c.(1003-1005)acG>acA		SR-related CTD-associated factor 1							15	16	16					19																	50154651		2192	4290	6482	SO:0001819	synonymous_variant	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50154651G>A	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.1005G>A	19.37:g.50154651G>A							p.T335T	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	1129	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	335					Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	c.1005G>A	CCDS33074.1																																																																																				0.701	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		3	8	0	0	0	1	0	3	8					A	50154651	G	A	50154651	2	1	435	1	0	0	0	0	0	0	0	1	13868	1074	38	1		1	SCAF1	19	50154651	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1	50154651	8974332	8418	29343	138	2									
PRMT1	126129	broad.mit.edu	37	chr19	50191419	50191419	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccccacctctccctgcagCgggacctggacttcaccatc	6	8	8	19	1	2	0	1	0	1	0	4	2	2	2	6	2	3	1	6	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50191419C>T	ENST00000392518.4	+	0	0				CTB-33G10.6_ENST00000596472.1_RNA|PRMT1_ENST00000527866.1_3'UTR|CPT1C_ENST00000405931.2_5'Flank|ADM5_ENST00000420022.3_5'Flank|PRMT1_ENST00000532489.1_Splice_Site_p.R299W|PRMT1_ENST00000454376.2_Splice_Site_p.R345W|CPT1C_ENST00000354199.5_5'Flank|CPT1C_ENST00000598293.1_5'Flank|PRMT1_ENST00000391851.4_Splice_Site_p.R327W|CPT1C_ENST00000323446.5_5'Flank	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C						carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTCCCTGCAGCGGGACCTGGA	0.692																																						ENST00000532489.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12						c.e11-1		protein arginine methyltransferase 1							104	89	94					19																	50191419		2203	4300	6503	SO:0001631	upstream_gene_variant	0					cytoplasm	protein methyltransferase activity	g.chr19:50191419C>T	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5			19.37:g.50191419C>T	Exception_encountered					PRMT1_ENST00000391851.4_Splice_Site_p.R327_splice|PRMT1_ENST00000527866.1_3'UTR|PRMT1_ENST00000454376.2_Splice_Site_p.R345_splice	p.R299_splice			Q8WUW5	Q8WUW5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)	11	1401	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	326					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Splice_Site	SNP	ENST00000392518.4	37	c.894_splice	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	c	19.30	3.801386	0.70567	.	.	ENSG00000126457	ENST00000532489;ENST00000391851;ENST00000454376	D;D;D	0.91521	-2.86;-2.86;-2.86	4.4	4.4	0.53042	.	0.000000	0.85682	U	0.000000	D	0.96947	0.9003	H	0.97440	4.005	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;1.0	D	0.98104	1.0416	9	.	.	.	-14.1466	14.5746	0.68238	0.0:1.0:0.0:0.0	.	335;299;327;321	Q99873;E9PKG1;G5E9B6;Q99873-2	ANM1_HUMAN;.;.;.	W	299;327;345	ENSP00000433556:R299W;ENSP00000375724:R327W;ENSP00000406162:R345W	.	R	+	1	2	PRMT1	54883231	1.000000	0.71417	0.995000	0.50966	0.797000	0.45037	4.535000	0.60629	2.309000	0.77851	0.450000	0.29827	CGG		0.692	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		24	49	0	0	0	1	0	24	49					T	50191419	C	T	50191419	1	4	435	0	1	0	0	0	0	0	0	0	12535	782	27	1		1	PRMT1	19	50191419	5'Flank	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	36768	50191419	8937564	8419	29344											
AP2A1	160	broad.mit.edu	37	chr19	50285952	50285952	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgggcgaggcctttgcCgctgacatcccccgcatcct	6	8	12	15	3	0	2	0	1	0	1	2	4	2	2	5	2	1	2	5	2	0	1	rs376406307		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50285952C>T	ENST00000359032.5	+	4	444	c.444C>T	c.(442-444)gcC>gcT	p.A148A	AP2A1_ENST00000600199.1_3'UTR|AP2A1_ENST00000354293.5_Silent_p.A148A	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	148					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		AGGCCTTTGCCGCTGACATCC	0.667																																						ENST00000354293.5																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.(442-444)gcC>gcT		adaptor-related protein complex 2, alpha 1 subunit		C	,	1,4311		0,1,2155	22	23	23		444,444	-4.7	0.8	19		23	0,8502		0,0,4251	no	coding-synonymous,coding-synonymous	AP2A1	NM_014203.2,NM_130787.2	,	0,1,6406	TT,TC,CC		0.0,0.0232,0.0078	,	148/978,148/956	50285952	1,12813	2156	4251	6407	SO:0001819	synonymous_variant	160				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	g.chr19:50285952C>T	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.444C>T	19.37:g.50285952C>T						AP2A1_ENST00000359032.5_Silent_p.A148A|AP2A1_ENST00000600199.1_3'UTR	p.A148A	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	4	610	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	148					Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	c.444C>T	CCDS46148.1																																																																																				0.667	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			5	6	0	0	0	1	0	5	6					T	50285952	C	T	50285952	2	4	435	1	0	0	0	0	0	0	0	1	739	639	23	2		2	AP2A1	19	50285952	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	94533	50285952	8843031	8420	29345											
AP2A1	160	broad.mit.edu	37	chr19	50302734	50302734	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagacgcacattgacacCgtcatcaatgccctcaaggt	12	8	8	13	2	4	2	4	1	0	1	4	2	4	2	2	1	1	1	2	1	3	1	rs371940152	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50302734C>T	ENST00000359032.5	+	9	1116	c.1116C>T	c.(1114-1116)acC>acT	p.T372T	AP2A1_ENST00000354293.5_Silent_p.T372T	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	372					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ACATTGACACCGTCATCAATG	0.642													C|||	2	0.000399361	0.0015	0	5008	,	,		18120	0		0	False		,,,				2504	0					ENST00000354293.5																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.(1114-1116)acC>acT		adaptor-related protein complex 2, alpha 1 subunit		C	,	1,4231		0,1,2115	20	23	22		1116,1116	-8.5	0.9	19		22	0,8480		0,0,4240	no	coding-synonymous,coding-synonymous	AP2A1	NM_014203.2,NM_130787.2	,	0,1,6355	TT,TC,CC		0.0,0.0236,0.0079	,	372/978,372/956	50302734	1,12711	2116	4240	6356	SO:0001819	synonymous_variant	160				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	g.chr19:50302734C>T	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1116C>T	19.37:g.50302734C>T						AP2A1_ENST00000359032.5_Silent_p.T372T	p.T372T	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	9	1282	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	372					Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	c.1116C>T	CCDS46148.1																																																																																				0.642	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			7	13	0	0	0	1	0	7	13					T	50302734	C	T	50302734	2	4	435	1	0	0	0	0	0	0	0	1	739	639	23	2		2	AP2A1	19	50302734	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16782	50302734	8826249	8421	29346											
AP2A1	160	broad.mit.edu	37	chr19	50304787	50304787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catccagggcgtcctgcgggCcggctcccagctgcgcaatg	5	6	14	16	4	0	0	0	0	0	0	3	0	3	0	4	3	3	3	4	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50304787C>T	ENST00000359032.5	+	13	1694	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	AP2A1_ENST00000354293.5_Missense_Mutation_p.A565V	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	565					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GTCCTGCGGGCCGGCTCCCAG	0.662																																						ENST00000354293.5																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.(1693-1695)gCc>gTc		adaptor-related protein complex 2, alpha 1 subunit							44	46	45					19																	50304787		2095	4221	6316	SO:0001583	missense	160				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	g.chr19:50304787C>T	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1694C>T	19.37:g.50304787C>T	ENSP00000351926:p.Ala565Val					AP2A1_ENST00000359032.5_Missense_Mutation_p.A565V	p.A565V	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	13	1860	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	565					Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	37	c.1694C>T	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506401	0.26949	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.26223	1.75;1.75	4.88	4.88	0.63580	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.118916	0.56097	D	0.000029	T	0.25754	0.0627	L	0.38175	1.15	0.32909	D	0.514248	B;P	0.36086	0.029;0.536	B;B	0.40256	0.062;0.324	T	0.22103	-1.0226	10	0.27785	T	0.31	.	16.9651	0.86283	0.0:1.0:0.0:0.0	.	565;565	O95782-2;O95782	.;AP2A1_HUMAN	V	565	ENSP00000346246:A565V;ENSP00000351926:A565V	ENSP00000346246:A565V	A	+	2	0	AP2A1	54996599	0.093000	0.21703	1.000000	0.80357	0.876000	0.50452	0.637000	0.24659	2.535000	0.85469	0.442000	0.29010	GCC		0.662	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			16	37	0	0	0	1	0	16	37					T	50304787	C	T	50304787	3	4	435	1	0	0	0	0	1	0	0	0	739	739	26	3	1744	3	AP2A1	19	50304787	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2053	50304787	8824196	8422	29347											
FUZ	80199	broad.mit.edu	37	chr19	50310485	50310485	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggactctggggagacaGcagcagcagcagccgccgaa	10	3	17	11	2	1	1	0	0	1	1	1	4	1	2	2	4	5	4	2	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50310485G>A	ENST00000313777.4	-	11	1343	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000533418.1_Silent_p.L344L|FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_Silent_p.L358L	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	394	Leu-rich.				cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TGGGGAGACAGCAGCAGCAGC	0.637																																						ENST00000313777.4																			0				endometrium(1)|lung(3)	4						c.(1180-1182)Ctg>Ttg		fuzzy planar cell polarity protein							53	51	51					19																	50310485		2203	4300	6503	SO:0001819	synonymous_variant	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50310485G>A	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"fuzzy homolog (Drosophila)"			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.1180C>T	19.37:g.50310485G>A						FUZ_ENST00000533418.1_Silent_p.L344L|FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_Silent_p.L358L	p.L394L	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	11	1343	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	394			Leu-rich.		B2RD86|B5MDH0|Q6PJY0|Q9H613	Silent	SNP	ENST00000313777.4	37	c.1180C>T	CCDS12781.1																																																																																				0.637	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		4	38	0	0	0	1	0	4	38					A	50310485	G	A	50310485	2	1	435	1	0	0	0	0	0	0	0	1	6112	962	34	3		3	FUZ	19	50310485	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5698	50310485	8818498	8423	29348											
MED25	81857	broad.mit.edu	37	chr19	50338353	50338353	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcccctacgaccagagCggcttcgtcaacggcatccg	8	7	9	17	5	2	1	2	0	0	1	5	2	4	1	4	2	3	2	4	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50338353C>T	ENST00000312865.6	+	14	1646	c.1593C>T	c.(1591-1593)agC>agT	p.S531S	MED25_ENST00000538643.1_Silent_p.S318S	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	531	Interaction with CREBBP.|Interaction with VP16.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)	p.S531S(2)		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)		ACGACCAGAGCGGCTTCGTCA	0.607																																					GBM(51;894 1657 37868)	ENST00000312865.6																			2	Substitution - coding silent(2)	p.S531S(2)	kidney(2)	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						c.(1591-1593)agC>agT		mediator complex subunit 25							198	174	182					19																	50338353		2203	4300	6503	SO:0001819	synonymous_variant	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50338353C>T	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1593C>T	19.37:g.50338353C>T						MED25_ENST00000538643.1_Silent_p.S318S	p.S531S	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	14	1646	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	531			Interaction with CREBBP.|Interaction with VP16.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Silent	SNP	ENST00000312865.6	37	c.1593C>T	CCDS33075.1																																																																																				0.607	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		9	125	0	0	0	1	0	9	125					T	50338353	C	T	50338353	2	4	435	1	0	0	0	0	0	0	0	1	9443	767	27	1		1	MED25	19	50338353	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27868	50338353	8790630	8424	29349											
AKT1S1	84335	broad.mit.edu	37	chr19	50374839	50374839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgatgaccgcgcctctgTcctcttctccttgaagcccc	5	12	7	17	2	4	3	0	3	4	0	6	3	5	3	6	0	1	0	6	0	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50374839T>C	ENST00000391833.1	-	3	2581	c.592A>G	c.(592-594)Aca>Gca	p.T198A	AKT1S1_ENST00000391834.2_Missense_Mutation_p.T198A|AKT1S1_ENST00000391831.1_Missense_Mutation_p.T198A|AKT1S1_ENST00000391832.3_Missense_Mutation_p.T198A|AKT1S1_ENST00000391835.1_Missense_Mutation_p.T218A|AKT1S1_ENST00000344175.5_Missense_Mutation_p.T198A	NM_001278160.1	NP_001265089.1			AKT1 substrate 1 (proline-rich)											kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CGCGCCTCTGTCCTCTTCTCC	0.647																																						ENST00000391833.1																			0				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(592-594)Aca>Gca		AKT1 substrate 1 (proline-rich)							119	123	122					19																	50374839		2203	4300	6503	SO:0001583	missense	84335				negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression	cytosolic part	protein binding	g.chr19:50374839T>C	BC022241	CCDS12784.1, CCDS59410.1	19q13.33	2008-02-05			ENSG00000204673	ENSG00000204673			28426	protein-coding gene	gene with protein product	"proline-rich Akt substrate, 40 kDa"	610221				12524439	Standard	NM_032375		Approved	PRAS40, MGC2865, Lobe	uc031rmg.1	Q96B36	OTTHUMG00000150246	ENST00000391833.1:c.592A>G	19.37:g.50374839T>C	ENSP00000375709:p.Thr198Ala					AKT1S1_ENST00000391835.1_Missense_Mutation_p.T218A|AKT1S1_ENST00000391834.2_Missense_Mutation_p.T198A|AKT1S1_ENST00000344175.5_Missense_Mutation_p.T198A|AKT1S1_ENST00000391831.1_Missense_Mutation_p.T198A|AKT1S1_ENST00000391832.3_Missense_Mutation_p.T198A	p.T198A	NM_001278160.1	NP_001265089.1	Q96B36	AKTS1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	3	2581	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	198						Missense_Mutation	SNP	ENST00000391833.1	37	c.592A>G	CCDS12784.1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.246330	0.22796	.	.	ENSG00000204673	ENST00000391833;ENST00000344175;ENST00000391832;ENST00000391834;ENST00000391835;ENST00000391831	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	4.66	-0.532	0.11890	.	0.782790	0.11346	N	0.573486	T	0.16599	0.0399	N	0.04203	-0.255	0.27499	N	0.952056	B	0.02656	0.0	B	0.01281	0.0	T	0.16070	-1.0415	10	0.35671	T	0.21	-1.2903	2.78	0.05358	0.1437:0.0914:0.431:0.3339	.	198	Q96B36	AKTS1_HUMAN	A	198;198;198;198;218;198	ENSP00000375709:T198A;ENSP00000341698:T198A;ENSP00000375708:T198A;ENSP00000375710:T198A;ENSP00000375711:T218A;ENSP00000375707:T198A	ENSP00000341698:T198A	T	-	1	0	AKT1S1	55066651	0.988000	0.35896	0.997000	0.53966	0.996000	0.88848	0.817000	0.27281	-0.061000	0.13110	0.533000	0.62120	ACA		0.647	AKT1S1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317073.1	NM_032375		53	85	0	0	0	1	0	53	85					C	50374839	T	C	50374839	3	2	435	1	0	0	0	0	1	0	0	0	479	1667	58	4	186	4	AKT1S1	19	50374839	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	36486	50374839	8754144	8425	29350											
IL4I1	259307	broad.mit.edu	37	chr19	50397557	50397557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catctggtagatgtcttcggGcgagtggcccttttcctggg	4	13	14	10	2	2	1	0	0	2	1	4	2	3	1	2	4	0	1	2	4	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50397557G>T	ENST00000391826.2	-	5	677	c.535C>A	c.(535-537)Ccc>Acc	p.P179T	IL4I1_ENST00000341114.3_Missense_Mutation_p.P201T|IL4I1_ENST00000595948.1_Missense_Mutation_p.P201T	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	179						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			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)	Flavin adenine dinucleotide(DB03147)	ATGTCTTCGGGCGAGTGGCCC	0.637																																						ENST00000595948.1																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(601-603)Ccc>Acc		interleukin 4 induced 1							95	91	92					19																	50397557		2203	4300	6503	SO:0001583	missense	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50397557G>T	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.535C>A	19.37:g.50397557G>T	ENSP00000375702:p.Pro179Thr					IL4I1_ENST00000391826.2_Missense_Mutation_p.P179T|IL4I1_ENST00000341114.3_Missense_Mutation_p.P201T	p.P201T	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	7	1221	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	179					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Missense_Mutation	SNP	ENST00000391826.2	37	c.601C>A	CCDS12787.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085050	0.55861	.	.	ENSG00000104951	ENST00000341114;ENST00000391826	T;T	0.09163	3.01;3.01	5.38	5.38	0.77491	Amine oxidase (1);	0.238388	0.44097	D	0.000498	T	0.31513	0.0799	M	0.72894	2.215	0.42338	D	0.992321	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.72982	0.964;0.979;0.936	T	0.01269	-1.1400	10	0.51188	T	0.08	-27.8797	14.6045	0.68466	0.0:0.0:1.0:0.0	.	201;201;179	Q96RQ9-2;Q1WMJ3;Q96RQ9	.;.;OXLA_HUMAN	T	201;179	ENSP00000342557:P201T;ENSP00000375702:P179T	ENSP00000342557:P201T	P	-	1	0	IL4I1	55089369	0.999000	0.42202	0.714000	0.30535	0.224000	0.24922	4.251000	0.58778	2.521000	0.84997	0.491000	0.48974	CCC		0.637	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			5	9	1	0	0.000602214	1	0.000612743	5	9					T	50397557	G	T	50397557	3	4	435	1	0	0	0	0	1	0	0	0	7697	1203	42	5	1184	5	IL4I1	19	50397557	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22718	50397557	8731426	8426	29351											
NUP62	23636	broad.mit.edu	37	chr19	50412681	50412681	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctggctggaggtgacGgtgctcgatatggcattagt	6	11	16	8	2	0	1	0	1	0	0	1	3	0	2	1	5	2	3	1	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50412681G>A	ENST00000596217.1	-	2	2271	c.384C>T	c.(382-384)acC>acT	p.T128T	NUP62_ENST00000597723.1_Silent_p.T128T|NUP62_ENST00000413454.1_Silent_p.T128T|NUP62_ENST00000422090.2_Silent_p.T128T|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000600583.1_5'Flank|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Silent_p.T128T|NUP62_ENST00000597029.1_Silent_p.T128T			P37198	NUP62_HUMAN	nucleoporin 62kDa	128	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			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)		TGGAGGTGACGGTGCTCGATA	0.597																																						ENST00000596217.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19						c.(382-384)acC>acT		nucleoporin 62kDa							69	72	71					19																	50412681		2203	4300	6503	SO:0001819	synonymous_variant	23636				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	g.chr19:50412681G>A	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.384C>T	19.37:g.50412681G>A						NUP62_ENST00000597029.1_Silent_p.T128T|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Silent_p.T128T|NUP62_ENST00000597723.1_Silent_p.T128T|NUP62_ENST00000413454.1_Silent_p.T128T|NUP62_ENST00000352066.3_Silent_p.T128T|IL4I1_ENST00000341114.3_Intron	p.T128T			P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	2271	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	128			15 X 9 AA approximate repeats.|Thr-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	ENST00000596217.1	37	c.384C>T	CCDS12788.1																																																																																				0.597	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		18	31	0	0	0	1	0	18	31					A	50412681	G	A	50412681	2	1	435	1	0	0	0	0	0	0	0	1	10768	1103	39	2		2	NUP62	19	50412681	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15124	50412681	8716302	8427	29352											
ATF5	22809	broad.mit.edu	37	chr19	50434121	50434121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagccatgtcactcctggCgaccctggggctggagctgg	6	8	14	13	1	1	0	1	0	0	0	2	2	2	1	3	5	3	2	3	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50434121C>T	ENST00000423777.2	+	2	391	c.14C>T	c.(13-15)gCg>gTg	p.A5V	NUP62_ENST00000597723.1_5'Flank|NUP62_ENST00000413454.1_5'Flank|NUP62_ENST00000422090.2_5'Flank|IL4I1_ENST00000341114.3_5'Flank|ATF5_ENST00000600336.1_Missense_Mutation_p.A5V|NUP62_ENST00000600583.1_5'Flank|IL4I1_ENST00000595948.1_5'Flank|CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.A5V|NUP62_ENST00000596217.1_5'Flank|NUP62_ENST00000352066.3_5'Flank|MIR4751_ENST00000578027.1_RNA|NUP62_ENST00000597029.1_5'Flank	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	5					multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			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)	Pseudoephedrine(DB00852)	TCACTCCTGGCGACCCTGGGG	0.667																																					GBM(48;768 989 9196 9511 26329)	ENST00000423777.2																			0				NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7						c.(13-15)gCg>gTg		activating transcription factor 5							20	20	20					19																	50434121		2201	4298	6499	SO:0001583	missense	22809				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	g.chr19:50434121C>T	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"basic leucine zipper proteins"	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.14C>T	19.37:g.50434121C>T	ENSP00000396954:p.Ala5Val					ATF5_ENST00000600336.1_Missense_Mutation_p.A5V|CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.A5V	p.A5V	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	2	391	+		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	5					B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	ENST00000423777.2	37	c.14C>T	CCDS12789.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020596	0.93462	.	.	ENSG00000169136	ENST00000423777	T	0.27557	1.66	4.65	4.65	0.58169	.	0.000000	0.42420	D	0.000711	T	0.46190	0.1380	L	0.40543	1.245	0.47009	D	0.999289	D	0.76494	0.999	D	0.70716	0.97	T	0.46721	-0.9171	10	0.87932	D	0	-9.1546	15.3916	0.74747	0.0:1.0:0.0:0.0	.	5	Q9Y2D1	ATF5_HUMAN	V	5	ENSP00000396954:A5V	ENSP00000396954:A5V	A	+	2	0	ATF5	55125933	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	4.579000	0.60936	2.308000	0.77769	0.462000	0.41574	GCG		0.667	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			5	10	0	0	0	1	0	5	10					T	50434121	C	T	50434121	3	4	435	1	0	0	0	0	1	0	0	0	1083	768	27	1	16	1	ATF5	19	50434121	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21440	50434121	8694862	8428	29353											
ATF5	22809	broad.mit.edu	37	chr19	50436130	50436130	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccacccgaggggaccgCaagcaaaagaagagagacca	16	0	12	13	2	0	3	0	0	0	3	0	6	0	4	5	2	1	2	5	2	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50436130C>T	ENST00000423777.2	+	3	1007	c.630C>T	c.(628-630)cgC>cgT	p.R210R	CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Silent_p.R210R|MIR4751_ENST00000578027.1_RNA	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	210	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|Interaction with PTP4A1. {ECO:0000250}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			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)	Pseudoephedrine(DB00852)	GAGGGGACCGCAAGCAAAAGA	0.682																																					GBM(48;768 989 9196 9511 26329)	ENST00000423777.2																			0				NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7						c.(628-630)cgC>cgT		activating transcription factor 5							33	28	30					19																	50436130		2201	4300	6501	SO:0001819	synonymous_variant	22809				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	g.chr19:50436130C>T	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"basic leucine zipper proteins"	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.630C>T	19.37:g.50436130C>T						CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Silent_p.R210R	p.R210R	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	3	1007	+		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	210			Interaction with PTP4A1 (By similarity).		B3KND3|Q9BSA1|Q9UNQ3	Silent	SNP	ENST00000423777.2	37	c.630C>T	CCDS12789.1																																																																																				0.682	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			3	7	0	0	0	1	0	3	7					T	50436130	C	T	50436130	2	4	435	1	0	0	0	0	0	0	0	1	1083	697	25	3		3	ATF5	19	50436130	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2009	50436130	8692853	8429	29354											
VRK3	51231	broad.mit.edu	37	chr19	50519379	50519379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggggcagaatttgaatgccGcttggatacttttgccacag	10	11	12	8	1	0	2	0	1	0	1	0	3	0	3	2	3	3	2	2	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50519379G>A	ENST00000599538.1	-	3	705	c.41C>T	c.(40-42)gCg>gTg	p.A14V	VRK3_ENST00000601912.1_Missense_Mutation_p.A14V|VRK3_ENST00000601341.1_Missense_Mutation_p.A14V|VRK3_ENST00000594092.1_Missense_Mutation_p.A14V|VRK3_ENST00000594948.1_Missense_Mutation_p.A14V|VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000316763.3_Missense_Mutation_p.A14V|VRK3_ENST00000377011.2_Missense_Mutation_p.A14V|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000593919.1_Missense_Mutation_p.A14V			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	14					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TTTGAATGCCGCTTGGATACT	0.468																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	ENST00000599538.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23						c.(40-42)gCg>gTg		vaccinia related kinase 3							108	104	105					19																	50519379		2203	4300	6503	SO:0001583	missense	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50519379G>A	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.41C>T	19.37:g.50519379G>A	ENSP00000469880:p.Ala14Val					VRK3_ENST00000594948.1_Missense_Mutation_p.A14V|VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000593919.1_Missense_Mutation_p.A14V|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000316763.3_Missense_Mutation_p.A14V|VRK3_ENST00000601912.1_Missense_Mutation_p.A14V|VRK3_ENST00000601341.1_Missense_Mutation_p.A14V|VRK3_ENST00000377011.2_Missense_Mutation_p.A14V|VRK3_ENST00000594092.1_Missense_Mutation_p.A14V	p.A14V			Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	3	705	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	14					A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	c.41C>T	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	G	3.416	-0.119082	0.06838	.	.	ENSG00000105053	ENST00000316763;ENST00000377011;ENST00000424804	T;T	0.25912	1.77;1.79	4.52	2.36	0.29203	.	0.598744	0.17197	N	0.183287	T	0.14570	0.0352	L	0.52759	1.655	0.09310	N	1	P;B;B;B;B	0.38300	0.626;0.054;0.027;0.066;0.066	B;B;B;B;B	0.27170	0.077;0.011;0.02;0.019;0.019	T	0.13953	-1.0490	10	0.11485	T	0.65	-0.861	5.109	0.14800	0.1072:0.0:0.6879:0.2049	.	14;14;14;14;14	E7EMG6;Q8IV63-2;B4E0U5;A6NEG5;Q8IV63	.;.;.;.;VRK3_HUMAN	V	14	ENSP00000324636:A14V;ENSP00000366210:A14V	ENSP00000324636:A14V	A	-	2	0	VRK3	55211191	0.004000	0.15560	0.007000	0.13788	0.166000	0.22503	0.811000	0.27198	0.802000	0.34089	0.650000	0.86243	GCG		0.468	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440		5	57	0	0	0	1	0	5	57					A	50519379	G	A	50519379	3	1	435	1	0	0	0	0	1	0	0	0	17218	1087	38	1	1431	1	VRK3	19	50519379	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	83249	50519379	8609604	8430	29355											
C19orf41	126123	broad.mit.edu	37	chr19	50657963	50657963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccatctggtactgcagggCcacgcggggttgccggtcga	5	8	16	12	4	1	0	0	0	1	0	3	1	2	0	3	5	3	3	3	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50657963C>T	ENST00000293405.3	-	6	517	c.517G>A	c.(517-519)Gcc>Acc	p.A173T		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	173						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TACTGCAGGGCCACGCGGGGT	0.607																																						ENST00000293405.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(517-519)Gcc>Acc		IZUMO family member 2							108	120	116					19																	50657963		2042	4159	6201	SO:0001583	missense	126123					integral to membrane		g.chr19:50657963C>T	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"-"	28518	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 41"	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.517G>A	19.37:g.50657963C>T	ENSP00000293405:p.Ala173Thr						p.A173T	NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN			6	517	-			173					Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	c.517G>A	CCDS12792.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.792|7.792	0.711752|0.711752	0.15306|0.15306	.|.	.|.	ENSG00000161652|ENSG00000161652	ENST00000293405|ENST00000377000	T|.	0.24151|.	1.87|.	3.43|3.43	-3.92|-3.92	0.04155|0.04155	.|.	.|.	.|.	.|.	.|.	T|.	0.11410|.	0.0278|.	N|N	0.04880|0.04880	-0.145|-0.145	0.21878|0.21878	N|N	0.999499|0.999499	B|.	0.13145|.	0.007|.	B|.	0.06405|.	0.002|.	T|.	0.22382|.	-1.0218|.	9|.	0.19590|0.62326	T|D	0.45|0.03	.|.	0.7906|0.7906	0.01057|0.01057	0.1662:0.2707:0.1641:0.399|0.1662:0.2707:0.1641:0.399	.|.	173|.	Q6UXV1|.	IZUM2_HUMAN|.	T|X	173|137	ENSP00000293405:A173T|.	ENSP00000293405:A173T|ENSP00000366199:W137X	A|W	-|-	1|3	0|0	IZUMO2|IZUMO2	55349775|55349775	0.001000|0.001000	0.12720|0.12720	0.818000|0.818000	0.32626|0.32626	0.158000|0.158000	0.22134|0.22134	-1.687000|-1.687000	0.01927|0.01927	-0.689000|-0.689000	0.05149|0.05149	0.305000|0.305000	0.20034|0.20034	GCC|TGG		0.607	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		10	54	0	0	0	1	0	10	54					T	50657963	C	T	50657963	3	4	435	1	0	0	0	0	1	0	0	0	1924	739	26	3	156	3	C19orf41	19	50657963	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	138584	50657963	8471020	8431	29356											
MYH14	79784	broad.mit.edu	37	chr19	50730173	50730173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccagggcaaattcatccGcatcaactttgatgttgccg	9	11	8	13	2	2	1	2	1	0	0	4	1	4	1	3	1	2	3	3	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50730173G>A	ENST00000596571.1	+	6	800	c.800G>A	c.(799-801)cGc>cAc	p.R267H	MYH14_ENST00000440075.2_Missense_Mutation_p.R275H|MYH14_ENST00000262269.8_Missense_Mutation_p.R275H|MYH14_ENST00000425460.1_Missense_Mutation_p.R275H|MYH14_ENST00000601313.1_Missense_Mutation_p.R275H|MYH14_ENST00000376970.2_Missense_Mutation_p.R267H|MYH14_ENST00000598205.1_Missense_Mutation_p.R275H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	267	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AAATTCATCCGCATCAACTTT	0.587																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(823-825)cGc>cAc		myosin, heavy chain 14, non-muscle							72	74	73					19																	50730173		2203	4300	6503	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50730173G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.800G>A	19.37:g.50730173G>A	ENSP00000472819:p.Arg267His					MYH14_ENST00000425460.1_Missense_Mutation_p.R275H|MYH14_ENST00000376970.2_Missense_Mutation_p.R267H|MYH14_ENST00000262269.8_Missense_Mutation_p.R275H|MYH14_ENST00000601313.1_Missense_Mutation_p.R275H|MYH14_ENST00000598205.1_Missense_Mutation_p.R275H|MYH14_ENST00000596571.1_Missense_Mutation_p.R267H	p.R275H			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	8	871	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	267			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.824G>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.162712	0.78226	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	3.92	3.92	0.45320	Myosin head, motor domain (3);	.	.	.	.	D	0.87826	0.6275	H	0.95294	3.65	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.991;0.985	D	0.91280	0.5051	9	0.87932	D	0	.	13.8168	0.63297	0.0:0.0:1.0:0.0	.	275;267;275	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	267;275;267;275;267;275	ENSP00000406273:R275H;ENSP00000366169:R267H;ENSP00000407879:R275H;ENSP00000262269:R275H	ENSP00000262269:R275H	R	+	2	0	MYH14	55421985	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	7.088000	0.76901	2.199000	0.70637	0.574000	0.79327	CGC		0.587	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		16	41	0	0	0	1	0	16	41					A	50730173	G	A	50730173	3	1	435	1	0	0	0	0	1	0	0	0	10033	1087	38	1	850	1	MYH14	19	50730173	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	72210	50730173	8398810	8432	29357											
MYH14	79784	broad.mit.edu	37	chr19	50783375	50783375	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggagctgagcagcacaGaagcccagctgcacgatgcc	12	3	13	13	1	0	2	0	1	0	1	0	4	0	3	2	1	7	6	2	1	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50783375G>T	ENST00000596571.1	+	28	3991	c.3991G>T	c.(3991-3993)Gaa>Taa	p.E1331*	MYH14_ENST00000440075.2_Nonsense_Mutation_p.E1372*|MYH14_ENST00000262269.8_Nonsense_Mutation_p.E1372*|MYH14_ENST00000425460.1_Nonsense_Mutation_p.E1339*|MYH14_ENST00000601313.1_Nonsense_Mutation_p.E1372*|MYH14_ENST00000376970.2_Nonsense_Mutation_p.E1364*|MYH14_ENST00000598205.1_Nonsense_Mutation_p.E1339*			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1331					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GAGCAGCACAGAAGCCCAGCT	0.622																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(4114-4116)Gaa>Taa		myosin, heavy chain 14, non-muscle							56	65	62					19																	50783375		2191	4283	6474	SO:0001587	stop_gained	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50783375G>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3991G>T	19.37:g.50783375G>T	ENSP00000472819:p.Glu1331*					MYH14_ENST00000425460.1_Nonsense_Mutation_p.E1339*|MYH14_ENST00000376970.2_Nonsense_Mutation_p.E1364*|MYH14_ENST00000262269.8_Nonsense_Mutation_p.E1372*|MYH14_ENST00000601313.1_Nonsense_Mutation_p.E1372*|MYH14_ENST00000598205.1_Nonsense_Mutation_p.E1339*|MYH14_ENST00000596571.1_Nonsense_Mutation_p.E1331*	p.E1372*			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	31	4161	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1331					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Nonsense_Mutation	SNP	ENST00000596571.1	37	c.4114G>T	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	39	7.726547	0.98456	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269	.	.	.	3.38	3.38	0.38709	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.6516	0.56764	0.0:0.0:1.0:0.0	.	.	.	.	X	1331;1372;1364;1339;1372	.	ENSP00000262269:E1372X	E	+	1	0	MYH14	55475187	1.000000	0.71417	0.760000	0.31359	0.203000	0.24098	5.991000	0.70602	1.922000	0.55676	0.455000	0.32223	GAA		0.622	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		6	4	1	0	0.0293803	1	0.0295506	6	4					T	50783375	G	T	50783375	4	4	435	1	0	0	0	0	0	1	0	0	10033	943	33	5	4232	5	MYH14	19	50783375	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	53202	50783375	8345608	8433	29358											
MYH14	79784	broad.mit.edu	37	chr19	50792779	50792779	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagaactggaggatgagctGacagcggccgaggatgccaa	13	4	15	9	2	0	3	0	2	0	1	0	7	0	6	2	4	4	1	2	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50792779G>A	ENST00000596571.1	+	32	4716	c.4716G>A	c.(4714-4716)ctG>ctA	p.L1572L	MYH14_ENST00000440075.2_Silent_p.L1613L|MYH14_ENST00000262269.8_Silent_p.L1613L|MYH14_ENST00000425460.1_Silent_p.L1580L|MYH14_ENST00000601313.1_Silent_p.L1613L|MYH14_ENST00000376970.2_Silent_p.L1605L|MYH14_ENST00000598205.1_Silent_p.L1580L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1572					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGATGAGCTGACAGCGGCCG	0.607																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(4837-4839)ctG>ctA		myosin, heavy chain 14, non-muscle							43	52	49					19																	50792779		2193	4290	6483	SO:0001819	synonymous_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50792779G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4716G>A	19.37:g.50792779G>A						MYH14_ENST00000425460.1_Silent_p.L1580L|MYH14_ENST00000376970.2_Silent_p.L1605L|MYH14_ENST00000262269.8_Silent_p.L1613L|MYH14_ENST00000601313.1_Silent_p.L1613L|MYH14_ENST00000598205.1_Silent_p.L1580L|MYH14_ENST00000596571.1_Silent_p.L1572L	p.L1613L			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	35	4886	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1572					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	c.4839G>A	CCDS59411.1																																																																																				0.607	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		8	16	0	0	0	1	0	8	16					A	50792779	G	A	50792779	2	1	435	1	0	0	0	0	0	0	0	1	10033	1277	45	3		3	MYH14	19	50792779	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9404	50792779	8336204	8434	29359											
POLD1	5424	broad.mit.edu	37	chr19	50912858	50912858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggcgctgaaggtgagcGccaactccgtatacggcttc	8	8	13	12	4	0	2	0	2	0	0	2	2	1	2	2	3	4	4	2	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50912858G>A	ENST00000440232.2	+	17	2142	c.2089G>A	c.(2089-2091)Gcc>Acc	p.A697T	POLD1_ENST00000595904.1_Missense_Mutation_p.A723T|POLD1_ENST00000599857.1_Missense_Mutation_p.A697T	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	697					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GAAGGTGAGCGCCAACTCCGT	0.687								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2089-2091)Gcc>Acc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							56	63	60					19																	50912858		2203	4300	6503	SO:0001583	missense	5424				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	g.chr19:50912858G>A		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2089G>A	19.37:g.50912858G>A	ENSP00000406046:p.Ala697Thr					POLD1_ENST00000595904.1_Missense_Mutation_p.A723T|POLD1_ENST00000599857.1_Missense_Mutation_p.A697T	p.A697T	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	17	2142	+		all_neural(266;0.0571)	697					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.2089G>A	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	35	5.475944	0.96291	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.22134	1.97	4.38	4.38	0.52667	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.56321	0.1977	H	0.95043	3.615	0.80722	D	1	D;D	0.67145	0.996;0.982	P;P	0.62560	0.904;0.799	T	0.73033	-0.4110	10	0.87932	D	0	-21.7061	16.0916	0.81094	0.0:0.0:1.0:0.0	.	723;697	E7EVW0;P28340	.;DPOD1_HUMAN	T	697;698	ENSP00000406046:A697T	ENSP00000366129:A698T	A	+	1	0	POLD1	55604670	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.856000	0.92245	2.190000	0.69967	0.561000	0.74099	GCC		0.687	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			36	50	0	0	0	1	0	36	50					A	50912858	G	A	50912858	3	1	435	1	0	0	0	0	1	0	0	0	12190	1087	38	1	2151	1	POLD1	19	50912858	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	120079	50912858	8216125	8435	29360											
POLD1	5424	broad.mit.edu	37	chr19	50918754	50918754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggacctgctgtgcaaccGcatcgatatctcccagctgg	7	9	10	15	3	1	0	0	0	1	0	4	2	1	1	3	2	4	4	3	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50918754G>A	ENST00000440232.2	+	21	2677	c.2624G>A	c.(2623-2625)cGc>cAc	p.R875H	CTD-2545M3.6_ENST00000599632.1_5'Flank|POLD1_ENST00000595904.1_Missense_Mutation_p.R901H|POLD1_ENST00000599857.1_Missense_Mutation_p.R875H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	875					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CTGTGCAACCGCATCGATATC	0.657								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2623-2625)cGc>cAc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							45	36	39					19																	50918754		2203	4300	6503	SO:0001583	missense	5424				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	g.chr19:50918754G>A		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2624G>A	19.37:g.50918754G>A	ENSP00000406046:p.Arg875His					POLD1_ENST00000595904.1_Missense_Mutation_p.R901H|POLD1_ENST00000599857.1_Missense_Mutation_p.R875H	p.R875H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	21	2677	+		all_neural(266;0.0571)	875					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.2624G>A	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604917	0.87157	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.18174	2.23	4.25	4.25	0.50352	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.059138	0.64402	D	0.000002	T	0.40886	0.1135	M	0.92219	3.285	0.80722	D	1	P;P	0.47409	0.792;0.895	B;P	0.49502	0.429;0.613	T	0.58487	-0.7628	10	0.62326	D	0.03	-20.3747	15.8183	0.78621	0.0:0.0:1.0:0.0	.	901;875	E7EVW0;P28340	.;DPOD1_HUMAN	H	875;876	ENSP00000406046:R875H	ENSP00000366129:R876H	R	+	2	0	POLD1	55610566	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	5.860000	0.69546	2.114000	0.64651	0.450000	0.29827	CGC		0.657	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			13	11	0	0	0	1	0	13	11					A	50918754	G	A	50918754	3	1	435	1	0	0	0	0	1	0	0	0	12190	1087	38	1	2702	1	POLD1	19	50918754	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5896	50918754	8210229	8436	29361											
MYBPC2	4606	broad.mit.edu	37	chr19	50962223	50962223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccgccagacctacatccGcaaagtgggcgagcagctca	10	6	10	15	3	2	1	1	0	1	1	4	2	3	1	4	1	3	3	4	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50962223G>A	ENST00000357701.5	+	22	2606	c.2555G>A	c.(2554-2556)cGc>cAc	p.R852H		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	852	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R852H(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ACCTACATCCGCAAAGTGGGC	0.697																																						ENST00000357701.5																			1	Substitution - Missense(1)	p.R852H(1)	kidney(1)	breast(1)	1						c.(2554-2556)cGc>cAc		myosin binding protein C, fast type							21	27	25					19																	50962223		2014	4221	6235	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50962223G>A		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2555G>A	19.37:g.50962223G>A	ENSP00000350332:p.Arg852His						p.R852H	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	22	2606	+		all_neural(266;0.057)	852			Ig-like C2-type 6.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.2555G>A	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	g	16.43	3.121337	0.56613	.	.	ENSG00000086967	ENST00000357701	T	0.66995	-0.24	4.01	4.01	0.46588	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.505595	0.13386	U	0.391790	T	0.66819	0.2828	M	0.88241	2.94	0.31567	N	0.6568	P	0.34800	0.469	B	0.31686	0.134	T	0.70766	-0.4783	10	0.36615	T	0.2	.	6.6699	0.23062	0.2134:0.0:0.7866:0.0	.	852	Q14324	MYPC2_HUMAN	H	852	ENSP00000350332:R852H	ENSP00000350332:R852H	R	+	2	0	MYBPC2	55654035	0.246000	0.23909	0.993000	0.49108	0.609000	0.37215	0.754000	0.26390	1.967000	0.57214	0.457000	0.33378	CGC		0.697	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		7	7	0	0	0	1	0	7	7					A	50962223	G	A	50962223	3	1	435	1	0	0	0	0	1	0	0	0	10012	1087	38	1	2641	1	MYBPC2	19	50962223	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43469	50962223	8166760	8437	29362											
FAM71E1	112703	broad.mit.edu	37	chr19	50979390	50979390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggctcccctctctcacctgCcatcccacctggttccacct	4	11	5	21	0	2	0	1	0	1	0	6	0	5	0	8	2	1	2	8	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50979390C>T	ENST00000600100.1	-	1	620	c.256G>A	c.(256-258)Gca>Aca	p.A86T	EMC10_ENST00000334976.6_5'Flank|EMC10_ENST00000598585.1_5'Flank|EMC10_ENST00000376918.3_5'Flank|FAM71E1_ENST00000595790.1_Missense_Mutation_p.A86T			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	86										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)		CTCTCACCTGCCATCCCACCT	0.662																																						ENST00000600100.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(256-258)Gca>Aca		family with sequence similarity 71, member E1							55	66	62					19																	50979390		2186	4287	6473	SO:0001583	missense	112703							g.chr19:50979390C>T		CCDS33081.1	19q13.33	2007-11-20				ENSG00000142530			25107	protein-coding gene	gene with protein product							Standard	XM_005258472		Approved		uc002psg.3	Q6IPT2		ENST00000600100.1:c.256G>A	19.37:g.50979390C>T	ENSP00000472421:p.Ala86Thr					FAM71E1_ENST00000595790.1_Missense_Mutation_p.A86T	p.A86T			Q6IPT2	F71E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)	1	620	-		all_neural(266;0.131)	86					Q96EJ5|Q9BSM9	Missense_Mutation	SNP	ENST00000600100.1	37	c.256G>A		.	.	.	.	.	.	.	.	.	.	C	21.9	4.212160	0.79240	.	.	ENSG00000142530	ENST00000391816;ENST00000270620	T;T	0.12672	2.68;2.66	4.38	-1.4	0.08968	.	.	.	.	.	T	0.07818	0.0196	L	0.38175	1.15	0.28157	N	0.929146	B;B	0.19331	0.02;0.035	B;B	0.17098	0.014;0.017	T	0.40213	-0.9575	9	0.22109	T	0.4	.	0.9388	0.01351	0.1662:0.3767:0.2344:0.2227	.	86;86	Q6IPT2;Q6IPT2-2	F71E1_HUMAN;.	T	86	ENSP00000375692:A86T;ENSP00000270620:A86T	ENSP00000270620:A86T	A	-	1	0	FAM71E1	55671202	0.518000	0.26234	0.998000	0.56505	0.851000	0.48451	-0.059000	0.11731	0.076000	0.16826	0.563000	0.77884	GCA		0.662	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2			22	42	0	0	0	1	0	22	42					T	50979390	C	T	50979390	3	4	435	1	0	0	0	0	1	0	0	0	5611	739	26	3	455	3	FAM71E1	19	50979390	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17167	50979390	8149593	8438	29363											
SYT3	84258	broad.mit.edu	37	chr19	51135606	51135606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgggcaagcccccaccaCtggggggcagcaggagcaac	10	2	14	15	0	0	0	0	0	0	0	0	1	0	1	3	5	4	4	3	5	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:51135606C>A	ENST00000338916.4	-	2	1244	c.611G>T	c.(610-612)aGt>aTt	p.S204I	SYT3_ENST00000600079.1_Missense_Mutation_p.S204I|SYT3_ENST00000544769.1_Missense_Mutation_p.S204I|SYT3_ENST00000593901.1_Missense_Mutation_p.S204I	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	204					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GCCCCCACCACTGGGGGGCAG	0.647																																						ENST00000338916.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(610-612)aGt>aTt		synaptotagmin III							43	47	45					19																	51135606		2203	4300	6503	SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51135606C>A	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.611G>T	19.37:g.51135606C>A	ENSP00000340914:p.Ser204Ile					SYT3_ENST00000600079.1_Missense_Mutation_p.S204I|SYT3_ENST00000593901.1_Missense_Mutation_p.S204I|SYT3_ENST00000544769.1_Missense_Mutation_p.S204I	p.S204I	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	2	1244	-		all_neural(266;0.131)	204					Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	c.611G>T	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568169	0.45798	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.60548	0.18;0.18	5.14	5.14	0.70334	.	0.394979	0.23336	U	0.049292	T	0.32346	0.0826	N	0.08118	0	0.23478	N	0.997596	P	0.38978	0.652	B	0.30316	0.114	T	0.34875	-0.9811	10	0.87932	D	0	.	10.0989	0.42493	0.0:0.9067:0.0:0.0933	.	204	Q9BQG1	SYT3_HUMAN	I	204	ENSP00000340914:S204I;ENSP00000438883:S204I	ENSP00000340914:S204I	S	-	2	0	SYT3	55827418	0.147000	0.22687	0.978000	0.43139	0.996000	0.88848	1.421000	0.34815	2.548000	0.85928	0.655000	0.94253	AGT		0.647	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		25	15	1	0	7.92952e-12	1	8.55149e-12	25	15					A	51135606	C	A	51135606	3	1	435	1	0	0	0	0	1	0	0	0	15472	565	20	5	1189	5	SYT3	19	51135606	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	156216	51135606	7993377	8439	29364											
KLK15	55554	broad.mit.edu	37	chr19	51329883	51329883	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctaggctctgacctcacaGgattctgcgcctctgccctc	5	11	8	17	1	5	1	1	1	4	0	6	2	5	2	3	2	2	1	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:51329883G>T	ENST00000598239.1	-	4	642	c.612C>A	c.(610-612)tcC>tcA	p.S204S	KLK15_ENST00000326856.4_Silent_p.S203S|KLK1_ENST00000448701.2_5'Flank|KLK1_ENST00000301420.2_5'Flank|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000596931.1_Intron|KLK15_ENST00000301421.2_Intron	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	204	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGACCTCACAGGATTCTGCGC	0.577																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(607-609)tcC>tcA		kallikrein-related peptidase 15							80	83	82					19																	51329883		2203	4300	6503	SO:0001819	synonymous_variant	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51329883G>T	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"Kallikreins"	20453	protein-coding gene	gene with protein product		610601	"kallikrein 15"			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.612C>A	19.37:g.51329883G>T						KLK15_ENST00000416184.1_Intron|KLK15_ENST00000598239.1_Silent_p.S204S|KLK15_ENST00000301421.2_Intron|KLK15_ENST00000596931.1_Intron	p.S203S	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	5	738	-		all_neural(266;0.057)	204			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Silent	SNP	ENST00000598239.1	37	c.609C>A	CCDS12805.1																																																																																				0.577	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		18	35	1	0	7.45023e-12	1	8.03714e-12	18	35					T	51329883	G	T	51329883	2	4	435	1	0	0	0	0	0	0	0	1	8403	987	35	5		5	KLK15	19	51329883	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	194277	51329883	7799100	8440	29365											
KLK5	25818	broad.mit.edu	37	chr19	51451971	51451971	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtctcgggtaagcatcctcGcaccttttctgacttagcac	7	13	8	13	2	2	1	0	1	2	0	5	1	3	1	2	1	2	4	2	1	2	4	rs200214119		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:51451971G>A	ENST00000336334.3	-	5	1003	c.651C>T	c.(649-651)tgC>tgT	p.C217C	CTB-147C22.8_ENST00000594939.1_RNA|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000391809.2_Silent_p.C217C|KLK5_ENST00000593428.1_Silent_p.C217C	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	217	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			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)		AAGCATCCTCGCACCTTTTCT	0.498																																						ENST00000336334.3																			0				NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15						c.(649-651)tgC>tgT		kallikrein-related peptidase 5		G	,,	0,4406		0,0,2203	154	126	136		651,651,651	2	0.1	19		136	2,8598	1.2+/-3.3	0,2,4298	yes	coding-synonymous,coding-synonymous,coding-synonymous	KLK5	NM_001077491.1,NM_001077492.1,NM_012427.4	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	217/294,217/294,217/294	51451971	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51451971G>A	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"Kallikreins"	6366	protein-coding gene	gene with protein product		605643	"kallikrein 5"			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.651C>T	19.37:g.51451971G>A						KLK5_ENST00000391809.2_Silent_p.C217C|KLK5_ENST00000593428.1_Silent_p.C217C	p.C217C	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	5	1003	-		all_neural(266;0.026)	217			Peptidase S1.		Q53ZR3|Q9HBG8	Silent	SNP	ENST00000336334.3	37	c.651C>T	CCDS12810.1																																																																																				0.498	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		25	31	0	0	0	1	0	25	31					A	51451971	G	A	51451971	2	1	435	1	0	0	0	0	0	0	0	1	8407	1079	38	1		1	KLK5	19	51451971	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	122088	51451971	7677012	8441	29366											
KLK6	5653	broad.mit.edu	37	chr19	51466703	51466703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcctggtcatggctggcGgcatcatagtcagggtggat	7	11	15	8	1	3	0	3	0	0	0	4	1	4	1	1	6	0	2	1	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:51466703G>A	ENST00000376851.3	-	4	739	c.300C>T	c.(298-300)gcC>gcT	p.A100A	CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000594641.1_Silent_p.A100A|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000456750.2_5'Flank|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000310157.2_Silent_p.A100A	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	100	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CATGGCTGGCGGCATCATAGT	0.582																																						ENST00000376851.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13						c.(298-300)gcC>gcT		kallikrein-related peptidase 6							81	63	69					19																	51466703		2203	4300	6503	SO:0001819	synonymous_variant	5653				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	g.chr19:51466703G>A	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"Kallikreins", "Serine peptidases / Serine peptidases"	6367	protein-coding gene	gene with protein product		602652	"protease, serine, 18", "kallikrein 6 (neurosin, zyme)"	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.300C>T	19.37:g.51466703G>A						KLK6_ENST00000310157.2_Silent_p.A100A|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000594641.1_Silent_p.A100A|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Intron	p.A100A	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	4	739	-		all_neural(266;0.026)	100			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Silent	SNP	ENST00000376851.3	37	c.300C>T	CCDS12811.1																																																																																				0.582	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		12	13	0	0	0	1	0	12	13					A	51466703	G	A	51466703	2	1	435	1	0	0	0	0	0	0	0	1	8408	1103	39	2		2	KLK6	19	51466703	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14732	51466703	7662280	8442	29367											
KLK9	284366	broad.mit.edu	37	chr19	51507095	51507095	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtgtgactggaaacagCgctgtcagggaagagaactg	12	7	15	7	1	1	2	1	1	0	1	1	5	1	4	0	2	4	2	0	2	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:51507095C>T	ENST00000594211.1	-	4	468	c.468G>A	c.(466-468)gcG>gcA	p.A156A	KLK9_ENST00000376832.4_Splice_Site_p.A156A|KLK9_ENST00000250366.6_Splice_Site_p.A156A|KLK8_ENST00000391806.2_5'Flank|KLK8_ENST00000347619.4_5'Flank|KLK8_ENST00000593490.1_5'Flank|KLK8_ENST00000320838.5_5'Flank|KLK8_ENST00000600767.1_5'Flank|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000291726.7_5'Flank			Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	156	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CTGGAAACAGCGCTGTCAGGG	0.537																																						ENST00000376832.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						c.e4-1		kallikrein-related peptidase 9							115	80	92					19																	51507095		2203	4300	6503	SO:0001630	splice_region_variant	284366				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51507095C>T	AF135026	CCDS12816.1	19q13.33	2008-02-05	2006-10-27					"Kallikreins"	6370	protein-coding gene	gene with protein product		605504	"kallikrein 9"			16800724, 16800723	Standard	NM_012315		Approved	KLK-L3	uc002pux.1	Q9UKQ9		ENST00000594211.1:c.467-1G>A	19.37:g.51507095C>T						CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000594211.1_Splice_Site_p.A156_splice|KLK9_ENST00000250366.6_Splice_Site_p.A156_splice	p.A156_splice	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)	4	501	-		all_neural(266;0.0652)	156			Peptidase S1.		Q6QA55	Splice_Site	SNP	ENST00000594211.1	37	c.466_splice	CCDS12816.1																																																																																				0.537	KLK9-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465226.1	NM_012315	Silent	16	26	0	0	0	1	0	16	26					T	51507095	C	T	51507095	5	4	435	1	0	0	0	0	0	0	1	0	8411	782	27	1	292	1	KLK9	19	51507095	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	40392	51507095	7621888	8443	29368											
KLK9	284366	broad.mit.edu	37	chr19	51509868	51509868	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcattgtggtcattggcGctgaggtccttgttgaagcc	6	14	12	9	1	3	2	3	2	0	0	4	2	4	2	2	3	1	2	2	3	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:51509868G>A	ENST00000594211.1	-	3	312	c.312C>T	c.(310-312)agC>agT	p.S104S	KLK9_ENST00000376832.4_Silent_p.S104S|KLK9_ENST00000250366.6_Silent_p.S104S|CTB-147C22.9_ENST00000594512.1_RNA			Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	104	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GGTCATTGGCGCTGAGGTCCT	0.602																																						ENST00000376832.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						c.(310-312)agC>agT		kallikrein-related peptidase 9							83	68	73					19																	51509868		2203	4297	6500	SO:0001819	synonymous_variant	284366				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51509868G>A	AF135026	CCDS12816.1	19q13.33	2008-02-05	2006-10-27					"Kallikreins"	6370	protein-coding gene	gene with protein product		605504	"kallikrein 9"			16800724, 16800723	Standard	NM_012315		Approved	KLK-L3	uc002pux.1	Q9UKQ9		ENST00000594211.1:c.312C>T	19.37:g.51509868G>A						CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000594211.1_Silent_p.S104S|KLK9_ENST00000250366.6_Silent_p.S104S	p.S104S	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)	3	345	-		all_neural(266;0.0652)	104			Peptidase S1.		Q6QA55	Silent	SNP	ENST00000594211.1	37	c.312C>T	CCDS12816.1	.	.	.	.	.	.	.	.	.	.	g	4.580	0.107816	0.08780	.	.	ENSG00000213022	ENST00000544410	.	.	.	3.8	-7.6	0.01303	.	.	.	.	.	T	0.35008	0.0917	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.48387	-0.9040	5	0.87932	D	0	.	5.8608	0.18745	0.1604:0.1021:0.5359:0.2016	.	.	.	.	V	52	.	ENSP00000443289:A52V	A	-	2	0	KLK9	56201680	0.000000	0.05858	0.003000	0.11579	0.909000	0.53808	-5.865000	0.00093	-4.014000	0.00081	-1.560000	0.00886	GCG		0.602	KLK9-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465226.1	NM_012315		14	24	0	0	0	1	0	14	24					A	51509868	G	A	51509868	2	1	435	1	0	0	0	0	0	0	0	1	8411	1078	38	1		1	KLK9	19	51509868	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2773	51509868	7619115	8444	29369											
KLK12	43849	broad.mit.edu	37	chr19	51535246	51535246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttacgcggacgggcaggcGcagccgcagcagccggaggt	7	3	19	12	6	0	0	0	0	0	0	0	2	0	2	2	6	4	5	2	6	1	1	rs376059650		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:51535246G>A	ENST00000525263.1	-	3	462	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	KLK12_ENST00000319590.4_Missense_Mutation_p.R115C|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000529888.1_Intron|KLK12_ENST00000250351.4_Missense_Mutation_p.R115C|KLK12_ENST00000250352.11_Intron			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	115	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		ACGGGCAGGCGCAGCCGCAGC	0.682													G|||	1	0.000199681	0	0	5008	,	,		12629	0.001		0	False		,,,				2504	0					ENST00000525263.1																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12						c.(343-345)Cgc>Tgc		kallikrein-related peptidase 12							32	31	32					19																	51535246		2195	4287	6482	SO:0001583	missense	43849				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity	g.chr19:51535246G>A		CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"Kallikreins"	6360	protein-coding gene	gene with protein product		605539	"kallikrein 12"			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.343C>T	19.37:g.51535246G>A	ENSP00000436458:p.Arg115Cys					KLK12_ENST00000529888.1_Intron|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Missense_Mutation_p.R115C|KLK12_ENST00000250351.4_Missense_Mutation_p.R115C|KLK12_ENST00000250352.11_Intron	p.R115C			Q9UKR0	KLK12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)	3	462	-		all_neural(266;0.026)	115			Peptidase S1.		Q9UKR1|Q9UKR2	Missense_Mutation	SNP	ENST00000525263.1	37	c.343C>T	CCDS12821.1	.	.	.	.	.	.	.	.	.	.	g	13.10	2.135915	0.37728	.	.	ENSG00000186474	ENST00000525263;ENST00000319590;ENST00000250351	D;D;D	0.89050	-2.46;-2.46;-2.46	4.07	-2.66	0.06077	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.295300	0.05519	N	0.561801	D	0.89188	0.6644	M	0.69358	2.11	0.21416	N	0.999699	P;D	0.54964	0.951;0.969	P;B	0.51229	0.663;0.289	T	0.79897	-0.1609	10	0.87932	D	0	.	5.7177	0.17970	0.0:0.2758:0.5056:0.2186	.	115;115	Q9UKR0-2;Q9UKR0	.;KLK12_HUMAN	C	115	ENSP00000436458:R115C;ENSP00000324181:R115C;ENSP00000250351:R115C	ENSP00000250351:R115C	R	-	1	0	KLK12	56227058	0.000000	0.05858	0.247000	0.24249	0.174000	0.22865	-0.406000	0.07187	-0.107000	0.12088	-0.153000	0.13522	CGC		0.682	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386288.1	NM_019598		11	11	0	0	0	1	0	11	11					A	51535246	G	A	51535246	3	1	435	1	0	0	0	0	1	0	0	0	8400	1087	38	1	477	1	KLK12	19	51535246	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25378	51535246	7593737	8445	29370											
NKG7	4818	broad.mit.edu	37	chr19	51875455	51875455	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttgagacaagcgggccgtgGcctggggggaacagtgaggg	8	5	21	7	2	0	2	0	2	0	1	0	4	0	3	2	6	2	1	2	6	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:51875455G>A	ENST00000221978.5	-	2	443	c.264C>T	c.(262-264)ggC>ggT	p.G88G	NKG7_ENST00000595217.1_Splice_Site_p.G53G|NKG7_ENST00000600427.1_Splice_Site_p.G53G	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	88						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCGGGCCGTGGCCTGGGGGGA	0.622																																						ENST00000595217.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.e2-1		natural killer cell group 7 sequence							88	94	92					19																	51875455		2203	4300	6503	SO:0001819	synonymous_variant	4818					integral to plasma membrane		g.chr19:51875455G>A		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"granule membrane protein 17"	606008	"natural killer cell group 7 sequence"			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.264C>T	19.37:g.51875455G>A						NKG7_ENST00000221978.5_Silent_p.G88G|NKG7_ENST00000600427.1_Splice_Site_p.G53_splice	p.G53_splice			Q16617	NKG7_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	324	-		all_neural(266;0.0199)	88						Splice_Site	SNP	ENST00000221978.5	37	c.157_splice	CCDS12830.1																																																																																				0.622	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601		30	36	0	0	0	1	0	30	36					A	51875455	G	A	51875455	2	1	435	1	0	0	0	0	0	0	0	1	10443	1190	42	3		3	NKG7	19	51875455	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	340209	51875455	7253528	8446	29371											
CEACAM18	729767	broad.mit.edu	37	chr19	51981850	51981850	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggagcagaggaggtggCtgtgtctctggagggacccc	7	6	20	8	0	1	1	0	0	1	1	2	6	1	6	2	7	1	2	2	7	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:51981850C>T	ENST00000396477.4	+	0	0				CEACAM18_ENST00000451626.1_Missense_Mutation_p.A46V	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18											breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GAGGAGGTGGCTGTGTCTCTG	0.642																																						ENST00000451626.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17						c.(136-138)gCt>gTt		carcinoembryonic antigen-related cell adhesion molecule 18							28	33	31					19																	51981850		1987	4151	6138	SO:0001631	upstream_gene_variant	729767					integral to membrane		g.chr19:51981850C>T			19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9			19.37:g.51981850C>T	Exception_encountered						p.A46V			A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	137	+		all_neural(266;0.0529)	46					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.137C>T		.	.	.	.	.	.	.	.	.	.	.	13.97	2.394972	0.42512	.	.	ENSG00000213822	ENST00000451626	T	0.07444	3.19	2.41	0.191	0.15130	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.42275	-0.9461	9	0.38643	T	0.18	.	7.2097	0.25927	0.0:0.7313:0.0:0.2687	.	46	A8MTB9	CEA18_HUMAN	V	46	ENSP00000402203:A46V	ENSP00000402203:A46V	A	+	2	0	CEACAM18	56673662	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.043000	0.12043	-0.121000	0.11787	-0.797000	0.03246	GCT		0.642	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			9	9	0	0	0	1	0	9	9					T	51981850	C	T	51981850	1	4	435	0	1	0	0	0	0	0	0	0	3189	797	28	3		3	CEACAM18	19	51981850	5'Flank	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	106395	51981850	7147133	8447	29372											
SIGLEC12	89858	broad.mit.edu	37	chr19	52002816	52002816	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcatcgaggagcgagtGatagtggggtccagggagga	10	6	19	6	2	0	2	0	2	0	0	2	7	1	5	1	5	2	1	1	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:52002816G>T	ENST00000291707.3	-	3	1018	c.963C>A	c.(961-963)atC>atA	p.I321I	SIGLEC12_ENST00000598614.1_Silent_p.I203I	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	321	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGGAGCGAGTGATAGTGGGGT	0.662																																						ENST00000291707.3																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(961-963)atC>atA		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							68	58	61					19																	52002816		2203	4300	6503	SO:0001819	synonymous_variant	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52002816G>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.963C>A	19.37:g.52002816G>T						SIGLEC12_ENST00000598614.1_Silent_p.I203I	p.I321I	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	3	1018	-		all_neural(266;0.0199)	321			Ig-like C2-type 1.		Q8IYH7	Silent	SNP	ENST00000291707.3	37	c.963C>A	CCDS12833.1																																																																																				0.662	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		11	24	1	0	1.58986e-06	1	1.65464e-06	11	24					T	52002816	G	T	52002816	2	4	435	1	0	0	0	0	0	0	0	1	14308	1280	45	5		5	SIGLEC12	19	52002816	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20966	52002816	7126167	8448	29373											
HAS1	3036	broad.mit.edu	37	chr19	52219536	52219536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cataacccatgctgagcatgCggttggtgaggtgccggtca	8	9	14	10	2	1	2	1	2	0	0	1	2	1	2	2	4	5	3	2	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:52219536C>T	ENST00000222115.1	-	4	1068	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	HAS1_ENST00000594621.1_Intron|HAS1_ENST00000540069.2_Missense_Mutation_p.R344H|HAS1_ENST00000601714.1_Missense_Mutation_p.R352H	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	345					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.R345H(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCTGAGCATGCGGTTGGTGAG	0.522																																					NSCLC(132;636 2450 45807 47979)	ENST00000540069.2																			1	Substitution - Missense(1)	p.R345H(1)	kidney(1)	breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(1030-1032)cGc>cAc		hyaluronan synthase 1							106	97	100					19																	52219536		2203	4300	6503	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52219536C>T	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1034G>A	19.37:g.52219536C>T	ENSP00000222115:p.Arg345His					HAS1_ENST00000601714.1_Missense_Mutation_p.R352H|HAS1_ENST00000594621.1_Intron|HAS1_ENST00000222115.1_Missense_Mutation_p.R345H	p.R344H			Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	4	1091	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	345					Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.1031G>A	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	c	20.5	4.002682	0.74932	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.69040	-0.37;-0.37	3.35	3.35	0.38373	.	0.073864	0.56097	U	0.000031	D	0.82852	0.5127	M	0.90483	3.12	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.70935	0.927;0.971;0.971	D	0.86306	0.1683	10	0.66056	D	0.02	-17.0936	12.592	0.56447	0.0:1.0:0.0:0.0	.	344;345;344	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	H	344;345	ENSP00000445021:R344H;ENSP00000222115:R345H	ENSP00000222115:R345H	R	-	2	0	HAS1	56911348	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.614000	0.82996	1.608000	0.50180	0.165000	0.16767	CGC		0.522	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		31	37	0	0	0	1	0	31	37					T	52219536	C	T	52219536	3	4	435	1	0	0	0	0	1	0	0	0	6961	768	27	1	710	1	HAS1	19	52219536	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	216720	52219536	6909447	8449	29374											
ZNF649	65251	broad.mit.edu	37	chr19	52394712	52394712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctctcctctgtgagctCtctcgtgttcagtgagcctg	3	16	10	12	1	4	2	1	2	3	0	8	2	5	2	2	0	2	3	2	0	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:52394712C>A	ENST00000354957.3	-	5	961	c.677G>T	c.(676-678)aGa>aTa	p.R226I	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Intron	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		TCTGTGAGCTCTCTCGTGTTC	0.498																																						ENST00000354957.3																			0				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						c.(676-678)aGa>aTa		zinc finger protein 649							116	113	114					19																	52394712		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394712C>A	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.677G>T	19.37:g.52394712C>A	ENSP00000347043:p.Arg226Ile					ZNF649_ENST00000600738.1_Intron|CTC-429C10.2_ENST00000600329.1_RNA	p.R226I	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	961	-		all_neural(266;0.0602)	226					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.677G>T	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044028	0.36085	.	.	ENSG00000198093	ENST00000354957	T	0.24908	1.83	2.33	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43055	0.1230	M	0.79693	2.465	0.18873	N	0.999982	D	0.63046	0.992	P	0.57244	0.816	T	0.21827	-1.0234	9	0.59425	D	0.04	.	7.7614	0.28955	0.0:0.8629:0.0:0.137	.	226	Q9BS31	ZN649_HUMAN	I	226	ENSP00000347043:R226I	ENSP00000347043:R226I	R	-	2	0	ZNF649	57086524	0.000000	0.05858	0.017000	0.16124	0.067000	0.16453	-5.167000	0.00145	0.204000	0.20548	0.398000	0.26397	AGA		0.498	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		11	80	1	0	4.68919e-08	1	4.93693e-08	11	80					A	52394712	C	A	52394712	3	1	435	1	0	0	0	0	1	0	0	0	18061	913	32	5	844	5	ZNF649	19	52394712	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	175176	52394712	6734271	8450	29375											
ZNF615	284370	broad.mit.edu	37	chr19	52496341	52496341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaataagatcatttttgCgcaaagagaattttccacat	14	14	7	6	1	1	2	1	0	0	2	2	3	2	2	1	0	1	2	1	0	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:52496341C>T	ENST00000602063.1	-	6	2337	c.1988G>A	c.(1987-1989)cGc>cAc	p.R663H	ZNF615_ENST00000391795.3_Missense_Mutation_p.R668H|ZNF615_ENST00000598071.1_Missense_Mutation_p.R674H|ZNF615_ENST00000594083.1_Missense_Mutation_p.R674H|ZNF615_ENST00000376716.5_Missense_Mutation_p.R663H			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	663					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ATCATTTTTGCGCAAAGAGAA	0.408																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(1987-1989)cGc>cAc		zinc finger protein 615							151	149	150					19																	52496341		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496341C>T	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1988G>A	19.37:g.52496341C>T	ENSP00000473089:p.Arg663His					ZNF615_ENST00000598071.1_Missense_Mutation_p.R674H|ZNF615_ENST00000594083.1_Missense_Mutation_p.R674H|ZNF615_ENST00000391795.3_Missense_Mutation_p.R668H|ZNF615_ENST00000376716.5_Missense_Mutation_p.R663H	p.R663H			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2337	-		all_neural(266;0.117)	663					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.1988G>A	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	C	9.961	1.222759	0.22457	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.36157	1.27;1.27	3.14	-0.54	0.11861	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18173	0.0436	N	0.16016	0.355	0.09310	N	1	B;B;B;B	0.14012	0.007;0.009;0.009;0.007	B;B;B;B	0.06405	0.002;0.001;0.001;0.002	T	0.23013	-1.0200	9	0.28530	T	0.3	.	6.2946	0.21079	0.0:0.3629:0.0:0.6371	.	668;670;674;663	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	H	663;673;668;617	ENSP00000365906:R663H;ENSP00000375672:R668H	ENSP00000347019:R673H	R	-	2	0	ZNF615	57188153	0.000000	0.05858	0.068000	0.19968	0.996000	0.88848	-1.753000	0.01818	0.107000	0.17824	0.655000	0.94253	CGC		0.408	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		7	154	0	0	0	1	0	7	154					T	52496341	C	T	52496341	3	4	435	1	0	0	0	0	1	0	0	0	18037	768	27	1	211	1	ZNF615	19	52496341	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	101629	52496341	6632642	8451	29376											
ZNF615	284370	broad.mit.edu	37	chr19	52497638	52497638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacatactgcatacatgagGtttttctccagtgtgaactc	11	13	7	10	0	1	2	0	2	1	0	3	2	1	2	1	1	4	2	1	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:52497638G>A	ENST00000602063.1	-	6	1040	c.691C>T	c.(691-693)Cct>Tct	p.P231S	ZNF615_ENST00000391795.3_Missense_Mutation_p.P236S|ZNF615_ENST00000598071.1_Missense_Mutation_p.P242S|ZNF615_ENST00000594083.1_Missense_Mutation_p.P242S|ZNF615_ENST00000376716.5_Missense_Mutation_p.P231S			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CATACATGAGGTTTTTCTCCA	0.408																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(691-693)Cct>Tct		zinc finger protein 615							167	160	162					19																	52497638		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497638G>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.691C>T	19.37:g.52497638G>A	ENSP00000473089:p.Pro231Ser					ZNF615_ENST00000598071.1_Missense_Mutation_p.P242S|ZNF615_ENST00000594083.1_Missense_Mutation_p.P242S|ZNF615_ENST00000391795.3_Missense_Mutation_p.P236S|ZNF615_ENST00000376716.5_Missense_Mutation_p.P231S	p.P231S			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1040	-		all_neural(266;0.117)	231					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.691C>T	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	9.691	1.151810	0.21371	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.16743	2.32;2.32	3.23	2.19	0.27852	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17662	0.0424	L	0.56769	1.78	0.32886	D	0.511199	B;B;B;B	0.13145	0.007;0.005;0.005;0.007	B;B;B;B	0.14578	0.011;0.006;0.006;0.007	T	0.09751	-1.0660	9	0.45353	T	0.12	.	9.743	0.40429	0.108:0.0:0.892:0.0	.	236;238;242;231	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	S	231;241;236;241	ENSP00000365906:P231S;ENSP00000375672:P236S	ENSP00000347019:P241S	P	-	1	0	ZNF615	57189450	0.644000	0.27277	0.788000	0.31933	0.763000	0.43281	1.802000	0.38853	0.687000	0.31509	-0.263000	0.10527	CCT		0.408	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		56	85	0	0	0	1	0	56	85					A	52497638	G	A	52497638	3	1	435	1	0	0	0	0	1	0	0	0	18037	1261	44	3	1508	3	ZNF615	19	52497638	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1297	52497638	6631345	8452	29377											
ZNF614	80110	broad.mit.edu	37	chr19	52521726	52521726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgaattccacagccaCatcctccagggtcagtgatt	10	9	8	14	0	1	2	1	2	0	0	4	2	4	2	5	1	2	1	5	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:52521726C>T	ENST00000270649.6	-	3	581	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	ZNF614_ENST00000356322.6_Missense_Mutation_p.V13M	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	13	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCCACAGCCACATCCTCCAGG	0.398																																						ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(37-39)Gtg>Atg		zinc finger protein 614							88	85	86					19																	52521726		2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52521726C>T	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"Zinc fingers, C2H2-type", "-"	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.37G>A	19.37:g.52521726C>T	ENSP00000270649:p.Val13Met					ZNF614_ENST00000356322.6_Missense_Mutation_p.V13M	p.V13M	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	3	581	-		all_neural(266;0.0505)	13			KRAB.		Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.37G>A	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969578	0.53614	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	T;T	0.10382	2.88;2.88	3.23	2.18	0.27775	Krueppel-associated box (4);	.	.	.	.	T	0.37679	0.1012	M	0.92367	3.3	0.22940	N	0.998532	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.98	T	0.10800	-1.0614	9	0.72032	D	0.01	.	8.0022	0.30304	0.0:0.8731:0.0:0.1269	.	13;13	Q8N883;Q9BSN8	ZN614_HUMAN;.	M	13	ENSP00000348674:V13M;ENSP00000270649:V13M	ENSP00000270649:V13M	V	-	1	0	ZNF614	57213538	0.980000	0.34600	0.928000	0.36995	0.863000	0.49368	2.734000	0.47368	0.684000	0.31448	0.591000	0.81541	GTG		0.398	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		28	34	0	0	0	1	0	28	34					T	52521726	C	T	52521726	3	4	435	1	0	0	0	0	1	0	0	0	18036	478	17	3	1732	3	ZNF614	19	52521726	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	24088	52521726	6607257	8453	29378											
ZNF616	90317	broad.mit.edu	37	chr19	52619034	52619034	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatttataagctttctcGccggtatgaattctccaatg	9	16	7	9	2	2	1	0	1	2	0	4	1	2	1	2	1	2	3	2	1	5	7	rs139023956		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:52619034G>A	ENST00000600228.1	-	4	1644	c.1383C>T	c.(1381-1383)ggC>ggT	p.G461G	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		AAGCTTTCTCGCCGGTATGAA	0.383																																						ENST00000600228.1																			0				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						c.(1381-1383)ggC>ggT		zinc finger protein 616		G		3,4403	6.2+/-15.9	0,3,2200	142	127	132		1383	0	0	19	dbSNP_134	132	0,8600		0,0,4300	no	coding-synonymous	ZNF616	NM_178523.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		461/782	52619034	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619034G>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1383C>T	19.37:g.52619034G>A						ZNF616_ENST00000330123.5_3'UTR	p.G461G	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1644	-			461					B3KRV1|Q0P658|Q658V7	Silent	SNP	ENST00000600228.1	37	c.1383C>T	CCDS33090.1																																																																																				0.383	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		52	97	0	0	0	1	0	52	97					A	52619034	G	A	52619034	2	1	435	1	0	0	0	0	0	0	0	1	18038	1074	38	1		1	ZNF616	19	52619034	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	97308	52619034	6509949	8454	29379											
ZNF616	90317	broad.mit.edu	37	chr19	52619169	52619169	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaacgtttactgaagacCttgccacattcattgcattt	10	15	6	10	1	1	3	1	2	0	1	1	3	1	3	2	0	4	2	2	0	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:52619169C>T	ENST00000600228.1	-	4	1509	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		TACTGAAGACCTTGCCACATT	0.408																																						ENST00000600228.1																			0				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						c.(1246-1248)aaG>aaA		zinc finger protein 616							175	162	166					19																	52619169		2203	4300	6503	SO:0001819	synonymous_variant	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619169C>T	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1248G>A	19.37:g.52619169C>T						ZNF616_ENST00000330123.5_3'UTR	p.K416K	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1509	-			416					B3KRV1|Q0P658|Q658V7	Silent	SNP	ENST00000600228.1	37	c.1248G>A	CCDS33090.1																																																																																				0.408	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		21	167	0	0	0	1	0	21	167					T	52619169	C	T	52619169	2	4	435	1	0	0	0	0	0	0	0	1	18038	680	24	3		3	ZNF616	19	52619169	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	135	52619169	6509814	8455	29380											
ZNF611	81856	broad.mit.edu	37	chr19	53208330	53208330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaggagtgaattacgcaCgaaagccttgtcacaaattg	14	9	10	8	2	1	2	1	2	0	0	1	4	1	3	1	1	2	1	1	1	4	3	rs200121663	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53208330C>T	ENST00000319783.1	-	7	2294	c.1978G>A	c.(1978-1980)Gtg>Atg	p.V660M	ZNF611_ENST00000453741.2_Missense_Mutation_p.V591M|ZNF611_ENST00000595798.1_Missense_Mutation_p.V591M|ZNF611_ENST00000602162.1_Missense_Mutation_p.V591M|ZNF611_ENST00000540744.1_Missense_Mutation_p.V660M|ZNF611_ENST00000543227.1_Missense_Mutation_p.V660M	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	660					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GAATTACGCACGAAAGCCTTG	0.408													-|||	3	0.000599042	0.0023	0	5008	,	,		24527	0		0	False		,,,				2504	0					ENST00000543227.1																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1978-1980)Gtg>Atg		zinc finger protein 611		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	160	154	156		1978,1978,1771,1978	-2.9	0	19		156	1,8599		0,1,4299	no	missense,missense,missense,missense	ZNF611	NM_001161499.1,NM_001161500.1,NM_001161501.1,NM_030972.3	21,21,21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	660/706,660/706,591/637,660/706	53208330	1,13005	2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208330C>T	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"Zinc fingers, C2H2-type", "-"	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1978G>A	19.37:g.53208330C>T	ENSP00000322427:p.Val660Met					ZNF611_ENST00000319783.1_Missense_Mutation_p.V660M|ZNF611_ENST00000602162.1_Missense_Mutation_p.V591M|ZNF611_ENST00000540744.1_Missense_Mutation_p.V660M|ZNF611_ENST00000595798.1_Missense_Mutation_p.V591M|ZNF611_ENST00000453741.2_Missense_Mutation_p.V591M	p.V660M	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	2252	-			660					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1978G>A	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	6.736	0.504617	0.12822	0.0	1.16E-4	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	1.46	-2.92	0.05615	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	L	0.35487	1.065	0.09310	N	1	P	0.52316	0.952	B	0.42343	0.384	T	0.19451	-1.0305	9	0.62326	D	0.03	.	3.2044	0.06661	0.1985:0.2285:0.0:0.573	.	660	Q8N823	ZN611_HUMAN	M	660;660;591;660	ENSP00000437616:V660M;ENSP00000439211:V660M;ENSP00000443505:V591M;ENSP00000322427:V660M	ENSP00000322427:V660M	V	-	1	0	ZNF611	57900142	0.000000	0.05858	0.000000	0.03702	0.168000	0.22595	-0.392000	0.07314	-0.384000	0.07845	0.194000	0.17425	GTG		0.408	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		54	86	0	0	0	1	0	54	86					T	53208330	C	T	53208330	3	4	435	1	0	0	0	0	1	0	0	0	18034	536	19	1	143	1	ZNF611	19	53208330	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	589161	53208330	5920653	8456	29381											
ZNF468	90333	broad.mit.edu	37	chr19	53344567	53344567	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcacaaaccttacatttgTatggtttctctccagtatga	11	15	5	10	0	2	1	1	1	1	0	4	1	3	1	2	1	2	3	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53344567T>C	ENST00000595646.1	-	4	1100	c.980A>G	c.(979-981)tAc>tGc	p.Y327C	ZNF468_ENST00000390651.4_Missense_Mutation_p.Y274C|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Missense_Mutation_p.Y274C|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		CTTACATTTGTATGGTTTCTC	0.363																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(979-981)tAc>tGc		zinc finger protein 468							121	125	124					19																	53344567		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53344567T>C	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.980A>G	19.37:g.53344567T>C	ENSP00000470381:p.Tyr327Cys					ZNF468_ENST00000390651.4_Missense_Mutation_p.Y274C|ZNF468_ENST00000396409.4_Missense_Mutation_p.Y274C|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR	p.Y327C			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	1100	-			327					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.980A>G	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	-	7.402	0.632947	0.14322	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651;ENST00000393865	T;T	0.25414	1.8;1.8	1.99	1.99	0.26369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48466	0.1501	M	0.80616	2.505	0.09310	N	1	D	0.89917	1.0	D	0.71414	0.973	T	0.22312	-1.0220	9	0.87932	D	0	.	8.6967	0.34301	0.0:0.0:0.0:1.0	.	327	Q5VIY5	ZN468_HUMAN	C	327;274;274;77	ENSP00000379690:Y274C;ENSP00000445669:Y274C	ENSP00000243639:Y327C	Y	-	2	0	ZNF468	58036379	0.240000	0.23847	0.056000	0.19401	0.148000	0.21650	0.808000	0.27154	0.899000	0.36444	0.386000	0.25728	TAC		0.363	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		4	120	0	0	0	1	0	4	120					C	53344567	T	C	53344567	3	2	435	1	0	0	0	0	1	0	0	0	17925	1638	57	4	592	4	ZNF468	19	53344567	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	136237	53344567	5784416	8457	29382											
ZNF468	90333	broad.mit.edu	37	chr19	53345180	53345180	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttgatcatgttggcctgTactaccagccaactctttga	8	14	7	12	0	2	2	1	2	1	0	2	2	2	2	4	1	4	2	4	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53345180T>C	ENST00000595646.1	-	4	487	c.367A>G	c.(367-369)Aca>Gca	p.T123A	ZNF468_ENST00000390651.4_Missense_Mutation_p.T70A|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Missense_Mutation_p.T70A|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		TGTTGGCCTGTACTACCAGCC	0.428																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(367-369)Aca>Gca		zinc finger protein 468							215	195	202					19																	53345180		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53345180T>C	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.367A>G	19.37:g.53345180T>C	ENSP00000470381:p.Thr123Ala					ZNF468_ENST00000390651.4_Missense_Mutation_p.T70A|ZNF468_ENST00000396409.4_Missense_Mutation_p.T70A|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR	p.T123A			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	487	-			123					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.367A>G	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	t	3.180	-0.168162	0.06461	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.06449	3.3;3.3	1.2	1.2	0.21068	.	.	.	.	.	T	0.10035	0.0246	L	0.42245	1.32	0.09310	N	1	P	0.52463	0.953	D	0.65443	0.935	T	0.19321	-1.0309	9	0.06494	T	0.89	.	3.3086	0.07009	0.3709:0.0:0.0:0.6291	.	123	Q5VIY5	ZN468_HUMAN	A	123;70;70	ENSP00000379690:T70A;ENSP00000445669:T70A	ENSP00000243639:T123A	T	-	1	0	ZNF468	58036992	0.000000	0.05858	0.011000	0.14972	0.013000	0.08279	-0.286000	0.08399	0.788000	0.33755	0.147000	0.16070	ACA		0.428	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		5	218	0	0	0	1	0	5	218					C	53345180	T	C	53345180	3	2	435	1	0	0	0	0	1	0	0	0	17925	1638	57	4	1205	4	ZNF468	19	53345180	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	613	53345180	5783803	8458	29383											
ZNF321	399669	broad.mit.edu	37	chr19	53432418	53432418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttaataggcttgtttccaGcatgcctttgatcatgtcgg	7	16	9	9	1	1	1	1	1	0	0	3	1	2	1	2	2	2	3	2	2	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53432418G>A	ENST00000391777.3	-	4	561	c.440C>T	c.(439-441)gCt>gTt	p.A147V	ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF816_ENST00000434371.2_Missense_Mutation_p.A147V|ZNF816_ENST00000549216.1_Missense_Mutation_p.A78V			Q8N8H1	ZN321_HUMAN	zinc finger protein 321, pseudogene	78										endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						CTTGTTTCCAGCATGCCTTTG	0.433																																						ENST00000549216.1																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(232-234)gCt>gTt		zinc finger protein 816							192	189	190					19																	53432418		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53432418G>A	AK096828		19q13.4	2013-01-08	2011-04-19	2011-04-19	ENSG00000221874	ENSG00000221874			13827	pseudogene	pseudogene			"zinc finger protein 321"	ZNF321			Standard	NR_037805		Approved	MGC35402		Q8N8H1	OTTHUMG00000167760	ENST00000391777.3:c.440C>T	19.37:g.53432418G>A	ENSP00000375656:p.Ala147Val					ZNF816_ENST00000434371.2_Missense_Mutation_p.A147V|ZNF321P_ENST00000391777.3_Missense_Mutation_p.A147V|ZNF816-ZNF321P_ENST00000313956.4_RNA	p.A78V	NM_001202473.1	NP_001189402.1	Q0VGE8	ZN816_HUMAN			2	303	-			147			KRAB.		B7ZB38|Q68DZ0|Q86SS5	Missense_Mutation	SNP	ENST00000391777.3	37	c.233C>T	CCDS56101.1	.	.	.	.	.	.	.	.	.	.	g	12.91	2.079192	0.36662	.	.	ENSG00000180257;ENSG00000180257;ENSG00000221874	ENST00000549216;ENST00000434371;ENST00000391777	T;T;T	0.02236	4.38;5.65;5.65	1.78	0.6	0.17524	.	.	.	.	.	T	0.06462	0.0166	M	0.61703	1.905	0.09310	N	1	D	0.61697	0.99	P	0.62014	0.897	T	0.33979	-0.9847	9	0.33141	T	0.24	.	5.2838	0.15690	0.0:0.0:0.6613:0.3387	.	78	Q8N8H1	ZN321_HUMAN	V	78;147;147	ENSP00000449832:A78V;ENSP00000438519:A147V;ENSP00000375656:A147V	ENSP00000375656:A147V	A	-	2	0	ZNF321P;ZNF816	58124230	0.002000	0.14202	0.004000	0.12327	0.085000	0.17905	0.663000	0.25053	0.080000	0.16959	0.134000	0.15878	GCT		0.433	ZNF321P-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000396130.1	NR_037805		5	218	0	0	0	1	0	5	218					A	53432418	G	A	53432418	3	1	435	1	0	0	0	0	1	0	0	0	17837	971	34	3	265	3	ZNF321	19	53432418	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	87238	53432418	5696565	8459	29384											
ZNF816A	125893	broad.mit.edu	37	chr19	53453281	53453281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagtatgaactctctgatGttgtgcaaggattccttttt	8	17	8	8	0	1	2	0	2	1	0	4	3	3	3	2	1	2	3	2	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53453281G>A	ENST00000357666.4	-	5	2047	c.1747C>T	c.(1747-1749)Cat>Tat	p.H583Y	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.H583Y	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ACTCTCTGATGTTGTGCAAGG	0.373																																						ENST00000357666.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(1747-1749)Cat>Tat		zinc finger protein 816							78	79	78					19																	53453281		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53453281G>A	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"Zinc fingers, C2H2-type", "-"	26995	protein-coding gene	gene with protein product			"zinc finger protein 816A"	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1747C>T	19.37:g.53453281G>A	ENSP00000350295:p.His583Tyr					ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.H583Y|ZNF321P_ENST00000391777.3_Intron	p.H583Y	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN			5	2047	-			583					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.1747C>T	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	18.96	3.734052	0.69189	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	D;D	0.86769	-2.17;-2.17	1.79	1.79	0.24919	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93890	0.8045	M	0.92459	3.31	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.93779	0.7082	9	0.87932	D	0	.	10.5237	0.44934	0.0:0.0:1.0:0.0	.	583	Q0VGE8	ZN816_HUMAN	Y	583	ENSP00000350295:H583Y;ENSP00000403266:H583Y	ENSP00000350295:H583Y	H	-	1	0	ZNF816	58145093	1.000000	0.71417	0.004000	0.12327	0.605000	0.37080	5.739000	0.68622	0.965000	0.38133	0.205000	0.17691	CAT		0.373	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		34	46	0	0	0	1	0	34	46					A	53453281	G	A	53453281	3	1	435	1	0	0	0	0	1	0	0	0	18174	1377	48	3	212	3	ZNF816A	19	53453281	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20863	53453281	5675702	8460	29385											
ZNF160	90338	broad.mit.edu	37	chr19	53572740	53572740	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtttgaatgtcctctaaaGgcttttccacactcattaca	11	14	6	10	0	2	1	1	1	1	0	4	1	4	1	2	2	1	2	2	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53572740G>T	ENST00000429604.1	-	7	1462	c.1047C>A	c.(1045-1047)gcC>gcA	p.A349A	ZNF160_ENST00000601421.1_Silent_p.A313A|ZNF160_ENST00000418871.1_Silent_p.A349A|ZNF160_ENST00000599056.1_Silent_p.A349A	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	349					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GTCCTCTAAAGGCTTTTCCAC	0.403																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(937-939)gcC>gcA		zinc finger protein 160							85	87	86					19																	53572740		2203	4300	6503	SO:0001819	synonymous_variant	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572740G>T	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"Zinc fingers, C2H2-type", "-"	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1047C>A	19.37:g.53572740G>T						ZNF160_ENST00000418871.1_Silent_p.A349A|ZNF160_ENST00000429604.1_Silent_p.A349A|ZNF160_ENST00000599056.1_Silent_p.A349A	p.A313A			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	1815	-			349					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Silent	SNP	ENST00000429604.1	37	c.939C>A	CCDS12859.1																																																																																				0.403	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		26	46	1	0	4.59853e-10	1	4.90296e-10	26	46					T	53572740	G	T	53572740	2	4	435	1	0	0	0	0	0	0	0	1	17736	987	35	5		5	ZNF160	19	53572740	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	119459	53572740	5556243	8461	29386											
ZNF415	55786	broad.mit.edu	37	chr19	53611696	53611696	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagaggtttgggcgcacActaaaggacttcccacaatc	12	8	10	11	1	0	2	0	1	0	1	2	3	1	3	1	3	0	2	1	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53611696A>G	ENST00000500065.4	-	4	1935	c.1602T>C	c.(1600-1602)agT>agC	p.S534S	ZNF415_ENST00000421033.1_Silent_p.S546S|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000455735.2_Silent_p.S582S|ZNF415_ENST00000448501.1_Silent_p.S582S|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000243643.4_Silent_p.S534S|ZNF415_ENST00000601493.1_Silent_p.S304S|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Silent_p.S521S|ZNF415_ENST00000594011.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	582					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TTGGGCGCACACTAAAGGACT	0.388																																						ENST00000455735.2																			0				breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1744-1746)agT>agC		zinc finger protein 415							145	140	142					19																	53611696		2203	4300	6503	SO:0001819	synonymous_variant	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53611696A>G	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"Zinc fingers, C2H2-type", "-"	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1602T>C	19.37:g.53611696A>G						ZNF415_ENST00000243643.4_Silent_p.S534S|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Silent_p.S304S|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000500065.4_Silent_p.S534S|ZNF415_ENST00000448501.1_Silent_p.S582S|ZNF415_ENST00000440291.1_Silent_p.S521S|ZNF415_ENST00000421033.1_Silent_p.S546S	p.S582S			Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	2066	-			582					F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Silent	SNP	ENST00000500065.4	37	c.1746T>C	CCDS54313.1																																																																																				0.388	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		53	116	0	0	0	1	0	53	116					G	53611696	A	G	53611696	2	3	435	1	0	0	0	0	0	0	0	1	17889	156	6	4		4	ZNF415	19	53611696	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	38956	53611696	5517287	8462	29387											
ZNF415	55786	broad.mit.edu	37	chr19	53612554	53612554	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactaaagaccttgccacaCagatcacatttatatccttt	13	13	4	11	0	1	3	1	1	0	2	2	3	2	3	3	0	1	0	3	0	4	6	rs145985814		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53612554C>T	ENST00000500065.4	-	4	1077	c.744G>A	c.(742-744)ctG>ctA	p.L248L	ZNF415_ENST00000421033.1_Silent_p.L260L|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000455735.2_Silent_p.L296L|ZNF415_ENST00000448501.1_Silent_p.L296L|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000243643.4_Silent_p.L248L|ZNF415_ENST00000601493.1_Silent_p.L18L|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Silent_p.L235L|ZNF415_ENST00000594011.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CCTTGCCACACAGATCACATT	0.398																																						ENST00000455735.2																			0				breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(886-888)ctG>ctA		zinc finger protein 415		C	,,	0,4406		0,0,2203	97	87	91		744,744,744	-2.4	0	19	dbSNP_134	91	1,8599	818.9+/-406.8	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF415	NM_001136038.2,NM_001164309.1,NM_018355.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	248/556,248/556,248/556	53612554	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612554C>T	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"Zinc fingers, C2H2-type", "-"	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.744G>A	19.37:g.53612554C>T						ZNF415_ENST00000243643.4_Silent_p.L248L|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Silent_p.L18L|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000500065.4_Silent_p.L248L|ZNF415_ENST00000448501.1_Silent_p.L296L|ZNF415_ENST00000440291.1_Silent_p.L235L|ZNF415_ENST00000421033.1_Silent_p.L260L	p.L296L			Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1208	-			296					F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Silent	SNP	ENST00000500065.4	37	c.888G>A	CCDS54313.1																																																																																				0.398	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		15	71	0	0	0	1	0	15	71					T	53612554	C	T	53612554	2	4	435	1	0	0	0	0	0	0	0	1	17889	465	17	3		3	ZNF415	19	53612554	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	858	53612554	5516429	8463	29388											
ZNF665	79788	broad.mit.edu	37	chr19	53668564	53668564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttctccggtatggatgatCtgatgcttagttaagtttga	8	18	10	5	1	2	3	0	3	2	0	3	4	2	4	1	2	1	4	1	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53668564C>T	ENST00000600412.1	-	2	1099	c.984G>A	c.(982-984)caG>caA	p.Q328Q	ZNF665_ENST00000396424.3_Silent_p.Q393Q|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TATGGATGATCTGATGCTTAG	0.398																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(982-984)caG>caA		zinc finger protein 665							100	104	103					19																	53668564		2203	4299	6502	SO:0001819	synonymous_variant	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668564C>T		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.984G>A	19.37:g.53668564C>T						ZNF665_ENST00000396424.3_Silent_p.Q393Q	p.Q328Q			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	1099	-			328					A8K5T8	Silent	SNP	ENST00000600412.1	37	c.984G>A																																																																																					0.398	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		10	46	0	0	0	1	0	10	46					T	53668564	C	T	53668564	2	4	435	1	0	0	0	0	0	0	0	1	18070	912	32	3		3	ZNF665	19	53668564	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	56010	53668564	5460419	8464	29389											
ZNF845	91664	broad.mit.edu	37	chr19	53854688	53854688	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgtggcaaggtctttaatCaaaagcgatatcttgcatgt	11	14	10	6	1	3	0	1	0	2	0	3	1	3	0	0	2	2	2	0	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53854688C>T	ENST00000595091.1	+	5	979	c.760C>T	c.(760-762)Caa>Taa	p.Q254*	ZNF845_ENST00000458035.1_Nonsense_Mutation_p.Q254*			Q96IR2	ZN845_HUMAN	zinc finger protein 845	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GGTCTTTAATCAAAAGCGATA	0.388																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(760-762)Caa>Taa		zinc finger protein 845							116	95	101					19																	53854688		692	1591	2283	SO:0001587	stop_gained	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854688C>T	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.760C>T	19.37:g.53854688C>T	ENSP00000470005:p.Gln254*					ZNF845_ENST00000595091.1_Nonsense_Mutation_p.Q254*	p.Q254*	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	877	+			254						Nonsense_Mutation	SNP	ENST00000595091.1	37	c.760C>T	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828632	0.71258	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	.	.	.	1.91	-1.02	0.10135	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	3.8144	0.08809	0.4021:0.4612:0.0:0.1367	.	.	.	.	X	254	.	ENSP00000412086:Q254X	Q	+	1	0	ZNF845	58546500	0.000000	0.05858	0.000000	0.03702	0.464000	0.32679	-2.781000	0.00773	-0.333000	0.08476	0.205000	0.17691	CAA		0.388	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		23	28	0	0	0	1	0	23	28					T	53854688	C	T	53854688	4	4	435	1	0	0	0	0	0	1	0	0	18188	827	29	3	770	3	ZNF845	19	53854688	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	186124	53854688	5274295	8465	29390											
ZNF845	91664	broad.mit.edu	37	chr19	53855127	53855127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggaagtcatcccttacacGccatcgtagacttcatactg	10	11	7	13	3	2	1	2	0	0	1	5	2	3	2	2	1	2	1	2	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53855127G>A	ENST00000595091.1	+	5	1418	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R400H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCCCTTACACGCCATCGTAGA	0.403																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1198-1200)cGc>cAc		zinc finger protein 845							44	42	43					19																	53855127		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855127G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1199G>A	19.37:g.53855127G>A	ENSP00000470005:p.Arg400His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R400H	p.R400H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1316	+			400						Missense_Mutation	SNP	ENST00000595091.1	37	c.1199G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	9.238	1.037645	0.19669	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.26810	1.71	1.91	-3.81	0.04294	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15046	0.0363	L	0.46567	1.45	0.09310	N	1	B	0.29188	0.236	B	0.20384	0.029	T	0.10428	-1.0630	9	0.40728	T	0.16	.	0.7926	0.01060	0.3046:0.1275:0.3229:0.2451	.	400	Q96IR2	ZN845_HUMAN	H	400	ENSP00000388311:R400H	ENSP00000412086:R400H	R	+	2	0	ZNF845	58546939	0.000000	0.05858	0.000000	0.03702	0.508000	0.34012	-20.000000	0.00000	-2.287000	0.00669	0.205000	0.17691	CGC		0.403	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		33	48	0	0	0	1	0	33	48					A	53855127	G	A	53855127	3	1	435	1	0	0	0	0	1	0	0	0	18188	1087	38	1	1209	1	ZNF845	19	53855127	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	439	53855127	5273856	8466	29391											
ZNF761	388561	broad.mit.edu	37	chr19	53958865	53958865	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctttagtcacaagtcatcCcttacatgccatcatagact	12	12	4	13	0	3	1	3	0	0	1	4	1	4	1	3	0	2	0	3	0	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53958865C>A	ENST00000454407.1	+	0	1557							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACAAGTCATCCCTTACATGCC	0.428																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							170	168	168					19																	53958865		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958865C>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958865C>A										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1557	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.428	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		5	178	1	0	0.014758	1	0.0148771	5	178					A	53958865	C	A	53958865	1	1	435	0	1	0	0	0	0	0	0	0	18133	610	22	5		5	ZNF761	19	53958865	RNA	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	103738	53958865	5170118	8467	29392											
ZNF813	126017	broad.mit.edu	37	chr19	53987091	53987091	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagggatggctcttcctcaGgtgagatgatatttttggtg	7	15	13	6	0	3	2	2	2	1	1	4	4	4	3	1	4	0	1	1	4	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53987091G>T	ENST00000396403.4	+	2	143	c.15G>T	c.(13-15)caG>caT	p.Q5H	ZNF813_ENST00000396421.4_Splice_Site_p.Q5H	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CTCTTCCTCAGGTGAGATGAT	0.463																																						ENST00000396403.4																			0				large_intestine(1)	1						c.e2+1		zinc finger protein 813							117	98	105					19																	53987091		1511	2709	4220	SO:0001630	splice_region_variant	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53987091G>T	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.15+1G>T	19.37:g.53987091G>T						ZNF813_ENST00000396421.4_Splice_Site_p.Q5_splice	p.Q5_splice	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	2	143	+			5						Splice_Site	SNP	ENST00000396403.4	37	c.15_splice	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396734	0.25205	.	.	ENSG00000198346	ENST00000396403;ENST00000490956;ENST00000396421	T;T;T	0.01059	5.39;5.39;5.39	0.74	0.74	0.18330	Krueppel-associated box (1);	.	.	.	.	T	0.04724	0.0128	M	0.74389	2.26	0.35386	D	0.79036	D	0.71674	0.998	D	0.63877	0.919	T	0.38373	-0.9664	8	0.87932	D	0	.	.	.	.	.	5	Q6ZN06	ZN813_HUMAN	H	5	ENSP00000379684:Q5H;ENSP00000418289:Q5H;ENSP00000379699:Q5H	ENSP00000379684:Q5H	Q	+	3	2	ZNF813	58678903	0.007000	0.16637	0.014000	0.15608	0.079000	0.17450	0.818000	0.27295	0.659000	0.30945	0.195000	0.17529	CAG		0.463	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301	Missense_Mutation	8	21	1	0	5.50884e-06	1	5.70893e-06	8	21					T	53987091	G	T	53987091	5	4	435	1	0	0	0	0	0	0	1	0	18172	1014	35	5	17	5	ZNF813	19	53987091	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28226	53987091	5141892	8468	29393											
CACNG8	59283	broad.mit.edu	37	chr19	54483212	54483212	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcctcccgcgtctacaaGtccaagaggaacatcattct	10	8	9	14	3	3	1	1	0	2	1	5	2	5	2	3	2	2	0	3	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54483212G>A	ENST00000270458.2	+	3	562	c.459G>A	c.(457-459)aaG>aaA	p.K153K	MIR935_ENST00000401179.1_RNA	NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	153					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GCGTCTACAAGTCCAAGAGGA	0.687																																						ENST00000270458.2																			0				kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13						c.(457-459)aaG>aaA		calcium channel, voltage-dependent, gamma subunit 8							39	39	39					19																	54483212		2203	4300	6503	SO:0001819	synonymous_variant	59283				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	g.chr19:54483212G>A	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"Calcium channel subunits"	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.459G>A	19.37:g.54483212G>A							p.K153K	NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	3	562	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		153					Q9BXT0|Q9BY23	Silent	SNP	ENST00000270458.2	37	c.459G>A	CCDS33104.1																																																																																				0.687	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			4	6	0	0	0	1	0	4	6					A	54483212	G	A	54483212	2	1	435	1	0	0	0	0	0	0	0	1	2563	1020	36	3		3	CACNG8	19	54483212	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	496121	54483212	4645771	8469	29394											
VSTM1	284415	broad.mit.edu	37	chr19	54545614	54545614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaagatggcgacaaagatgGttctggtgtctggaggggga	10	9	18	4	1	2	3	0	1	2	2	2	6	2	5	0	6	0	1	0	6	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54545614G>A	ENST00000338372.2	-	5	579	c.404C>T	c.(403-405)aCc>aTc	p.T135I	VSTM1_ENST00000376626.1_Intron|VSTM1_ENST00000366170.2_Missense_Mutation_p.T47I|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	135					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				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)		GACAAAGATGGTTCTGGTGTC	0.532																																						ENST00000338372.2																			0				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(403-405)aCc>aTc		V-set and transmembrane domain containing 1							86	68	74					19																	54545614		2203	4300	6503	SO:0001583	missense	284415					integral to membrane		g.chr19:54545614G>A	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.404C>T	19.37:g.54545614G>A	ENSP00000343366:p.Thr135Ile					VSTM1_ENST00000376626.1_Intron|VSTM1_ENST00000366170.2_Missense_Mutation_p.T47I|VSTM1_ENST00000425006.2_3'UTR	p.T135I	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	5	579	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		135					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	c.404C>T	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	G	0.767	-0.767069	0.02974	.	.	ENSG00000189068	ENST00000338372;ENST00000366170	T;T	0.52295	6.76;0.67	3.58	0.342	0.15996	.	.	.	.	.	T	0.28167	0.0695	N	0.20685	0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17471	-1.0368	9	0.34782	T	0.22	-8.5867	5.7553	0.18170	0.6059:0.0:0.3941:0.0	.	135	Q6UX27	VSTM1_HUMAN	I	135;47	ENSP00000343366:T135I;ENSP00000444153:T47I	ENSP00000343366:T135I	T	-	2	0	VSTM1	59237426	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.580000	0.05827	-0.004000	0.14419	-0.333000	0.08304	ACC		0.532	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		3	11	0	0	0	1	0	3	11					A	54545614	G	A	54545614	3	1	435	1	0	0	0	0	1	0	0	0	17225	1261	44	3	326	3	VSTM1	19	54545614	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62402	54545614	4583369	8470	29395											
CNOT3	4849	broad.mit.edu	37	chr19	54647752	54647752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctctacagcaaatggaacGgttcaaagttgtggaacgag	13	9	11	8	2	2	0	1	0	1	0	3	3	2	2	0	3	4	3	0	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54647752G>A	ENST00000406403.1	+	5	1872	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R90Q			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	90					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAAATGGAACGGTTCAAAGTT	0.557																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(268-270)cGg>cAg		CCR4-NOT transcription complex, subunit 3							84	84	84					19																	54647752		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54647752G>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.269G>A	19.37:g.54647752G>A	ENSP00000383954:p.Arg90Gln					CNOT3_ENST00000221232.5_Missense_Mutation_p.R90Q|CNOT3_ENST00000358389.3_5'UTR	p.R90Q			O75175	CNOT3_HUMAN			5	1872	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		90					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.269G>A	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.350687|4.350687	0.82132|0.82132	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000440571|ENST00000221232;ENST00000406403	.|T;T	.|0.48836	.|0.8;0.8	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Not CCR4-Not complex component, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56529|0.56529	0.1991|0.1991	N|N	0.25201|0.25201	0.72|0.72	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.998;1.0	.|D;D;D	.|0.87578	.|0.998;0.992;0.998	T|T	0.56378|0.56378	-0.7989|-0.7989	5|10	.|0.41790	.|T	.|0.15	-32.5338|-32.5338	18.0727|18.0727	0.89415|0.89415	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|90;90;14	.|B7Z6J7;O75175;Q6ZMJ6	.|.;CNOT3_HUMAN;.	S|Q	11|90	.|ENSP00000221232:R90Q;ENSP00000383954:R90Q	.|ENSP00000221232:R90Q	G|R	+|+	1|2	0|0	CNOT3|CNOT3	59339564|59339564	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.149000|9.149000	0.94659|0.94659	2.641000|2.641000	0.89580|0.89580	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.557	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		33	46	0	0	0	1	0	33	46					A	54647752	G	A	54647752	3	1	435	1	0	0	0	0	1	0	0	0	3620	1116	39	2	287	2	CNOT3	19	54647752	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	102138	54647752	4481231	8471	29396											
LILRB5	10990	broad.mit.edu	37	chr19	54760570	54760570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggcccctgacaccagaggGtcacgggcttcccccgagct	6	5	14	16	2	1	2	1	1	0	1	2	3	2	2	5	4	1	2	5	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54760570G>A	ENST00000316219.5	-	3	244	c.137C>T	c.(136-138)aCc>aTc	p.T46I	LILRB5_ENST00000450632.1_Missense_Mutation_p.T46I|LILRB5_ENST00000449561.2_Missense_Mutation_p.T46I|LILRB5_ENST00000345866.6_Missense_Mutation_p.T46I	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	46	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.T46I(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACACCAGAGGGTCACGGGCTT	0.622																																						ENST00000450632.1																			2	Substitution - Missense(2)	p.T46I(2)	kidney(2)	NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(136-138)aCc>aTc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							85	89	88					19																	54760570		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760570G>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.137C>T	19.37:g.54760570G>A	ENSP00000320390:p.Thr46Ile					LILRB5_ENST00000316219.5_Missense_Mutation_p.T46I|LILRB5_ENST00000345866.6_Missense_Mutation_p.T46I|LILRB5_ENST00000449561.2_Missense_Mutation_p.T46I	p.T46I			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	214	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		46			Ig-like C2-type 1.		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.137C>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127772	0.37533	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	3.18	2.12	0.27331	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.232248	0.30347	N	0.009824	T	0.32224	0.0822	M	0.62154	1.92	0.09310	N	1	D;D;D;D;D	0.89917	0.992;0.999;1.0;1.0;0.998	D;D;D;D;D	0.76575	0.959;0.967;0.947;0.988;0.949	T	0.02991	-1.1085	10	0.66056	D	0.02	.	6.5944	0.22664	0.1402:0.0:0.8598:0.0	.	46;37;46;46;46	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	I	46	ENSP00000320390:T46I;ENSP00000414225:T46I;ENSP00000406478:T46I;ENSP00000263430:T46I	ENSP00000320390:T46I	T	-	2	0	LILRB5	59452382	0.108000	0.22018	0.030000	0.17652	0.002000	0.02628	0.642000	0.24735	0.670000	0.31165	-0.203000	0.12734	ACC		0.622	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			11	99	0	0	0	1	0	11	99					A	54760570	G	A	54760570	3	1	435	1	0	0	0	0	1	0	0	0	8794	1261	44	3	1682	3	LILRB5	19	54760570	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	112818	54760570	4368413	8472	29397											
LILRB2	10288	broad.mit.edu	37	chr19	54778648	54778648	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaagctgtgcagctgggcGtaggtcacatcctggggggc	6	8	17	10	1	2	0	2	0	0	0	3	0	3	0	1	5	3	4	1	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54778648G>A	ENST00000391749.4	-	14	1957	c.1686C>T	c.(1684-1686)taC>taT	p.Y562Y	LILRB2_ENST00000391748.1_Silent_p.Y561Y|LILRB2_ENST00000434421.1_Silent_p.Y446Y|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000314446.5_Silent_p.Y561Y	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	562					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCAGCTGGGCGTAGGTCACAT	0.652																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1681-1683)taC>taT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							93	88	90					19																	54778648		2203	4300	6503	SO:0001819	synonymous_variant	0				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	g.chr19:54778648G>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1686C>T	19.37:g.54778648G>A						LILRB2_ENST00000434421.1_Silent_p.Y446Y|LILRB2_ENST00000391749.4_Silent_p.Y562Y|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000314446.5_Silent_p.Y561Y	p.Y561Y	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	14	1810	-	Ovarian(34;0.19)		562					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	c.1683C>T	CCDS12886.1																																																																																				0.652	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			14	28	0	0	0	1	0	14	28					A	54778648	G	A	54778648	2	1	435	1	0	0	0	0	0	0	0	1	8791	1140	40	1		1	LILRB2	19	54778648	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18078	54778648	4350335	8473	29398											
LILRA4	23547	broad.mit.edu	37	chr19	54848844	54848844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcgctgggggaggccatcgGccccctccttgtacagagtg	5	7	16	13	2	0	1	0	0	0	1	2	2	1	2	4	5	1	2	4	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54848844G>A	ENST00000291759.4	-	5	835	c.779C>T	c.(778-780)gCc>gTc	p.A260V	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	260	Ig-like C2-type 3.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.A260fs*51(1)		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)		GAGGCCATCGGCCCCCTCCTT	0.667																																						ENST00000291759.4																			1	Insertion - Frameshift(1)	p.A260fs*51(1)	central_nervous_system(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(778-780)gCc>gTc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							23	26	25					19																	54848844		2203	4298	6501	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54848844G>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.779C>T	19.37:g.54848844G>A	ENSP00000291759:p.Ala260Val						p.A260V	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	5	835	-	Ovarian(34;0.19)		260			Ig-like C2-type 3.		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.779C>T	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	5.886	0.347645	0.11126	.	.	ENSG00000239961	ENST00000291759	T	0.00700	5.82	2.51	-5.02	0.02982	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.239410	0.00805	N	0.001448	T	0.00936	0.0031	N	0.17674	0.51	0.09310	N	1	B	0.29590	0.25	B	0.38880	0.284	T	0.33701	-0.9858	10	0.62326	D	0.03	.	5.7236	0.18000	0.113:0.1363:0.5641:0.1866	.	260	P59901	LIRA4_HUMAN	V	260	ENSP00000291759:A260V	ENSP00000291759:A260V	A	-	2	0	LILRA4	59540656	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.732000	0.00102	-3.538000	0.00144	-0.387000	0.06579	GCC		0.667	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		11	18	0	0	0	1	0	11	18					A	54848844	G	A	54848844	3	1	435	1	0	0	0	0	1	0	0	0	8787	1203	42	3	736	3	LILRA4	19	54848844	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	70196	54848844	4280139	8474	29399											
LENG8	114823	broad.mit.edu	37	chr19	54965781	54965781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaggcggggcccgccaCgggccaggcctatgggccac	6	2	16	17	3	0	0	0	0	0	0	0	0	0	0	6	6	1	0	6	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54965781C>T	ENST00000326764.5	+	6	1078	c.599C>T	c.(598-600)aCg>aTg	p.T200M	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	163										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)		GGGCCCGCCACGGGCCAGGCC	0.642																																						ENST00000326764.5																			0				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						c.(598-600)aCg>aTg		leukocyte receptor cluster (LRC) member 8							13	13	13					19																	54965781		2085	4155	6240	SO:0001583	missense	114823						protein binding	g.chr19:54965781C>T	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.599C>T	19.37:g.54965781C>T	ENSP00000318374:p.Thr200Met					LENG8_ENST00000376514.2_Intron	p.T200M	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	6	1078	+	Ovarian(34;0.19)		163					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.599C>T	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451963	0.26074	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000439657;ENST00000376526;ENST00000431846	T;T;T;T	0.46451	1.48;0.87;1.46;1.44	4.85	3.79	0.43588	.	2.094530	0.02205	N	0.062618	T	0.36690	0.0976	L	0.36672	1.1	0.23304	N	0.997942	P;P	0.46020	0.481;0.871	B;B	0.38225	0.268;0.216	T	0.33675	-0.9859	10	0.36615	T	0.2	0.5162	9.8721	0.41180	0.0:0.8927:0.0:0.1073	.	200;163	Q96PV6-2;F8W9Q9	.;.	M	200;163;200;163;200	ENSP00000318374:T200M;ENSP00000399507:T200M;ENSP00000365709:T163M;ENSP00000388053:T200M	ENSP00000301196:T163M	T	+	2	0	LENG8	59657593	0.004000	0.15560	0.002000	0.10522	0.442000	0.32017	1.947000	0.40293	1.328000	0.45358	0.655000	0.94253	ACG		0.642	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		5	10	0	0	0	1	0	5	10					T	54965781	C	T	54965781	3	4	435	1	0	0	0	0	1	0	0	0	8724	536	19	1	617	1	LENG8	19	54965781	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	116937	54965781	4163202	8475	29400											
LENG8	114823	broad.mit.edu	37	chr19	54967330	54967330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaccaagtttggcaacCgcaacgtcttcatgaaggac	11	9	9	12	2	3	1	2	1	1	0	3	2	3	2	2	2	2	4	2	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54967330C>T	ENST00000326764.5	+	9	1689	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	367	Ser-rich.									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)		GTTTGGCAACCGCAACGTCTT	0.677																																						ENST00000326764.5																			0				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						c.(1210-1212)Cgc>Tgc		leukocyte receptor cluster (LRC) member 8							86	100	96					19																	54967330		2193	4287	6480	SO:0001583	missense	114823						protein binding	g.chr19:54967330C>T	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1210C>T	19.37:g.54967330C>T	ENSP00000318374:p.Arg404Cys					LENG8_ENST00000376514.2_Intron	p.R404C	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	9	1689	+	Ovarian(34;0.19)		367			Ser-rich.		B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.1210C>T	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043393	0.75732	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.38401	1.18;1.18;1.14	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.53400	0.1794	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.966	T	0.54029	-0.8354	10	0.59425	D	0.04	-31.202	10.8684	0.46869	0.1882:0.8118:0.0:0.0	.	404;367	Q96PV6-2;F8W9Q9	.;.	C	404;367;367;404	ENSP00000318374:R404C;ENSP00000365709:R367C;ENSP00000388053:R404C	ENSP00000301196:R367C	R	+	1	0	LENG8	59659142	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.369000	0.52365	2.367000	0.80283	0.561000	0.74099	CGC		0.677	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		32	48	0	0	0	1	0	32	48					T	54967330	C	T	54967330	3	4	435	1	0	0	0	0	1	0	0	0	8724	652	23	2	1240	2	LENG8	19	54967330	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1549	54967330	4161653	8476	29401											
LENG8	114823	broad.mit.edu	37	chr19	54969333	54969333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagctcaagtcgctgtacGccgagaacttgcctggcaat	9	8	11	13	4	1	1	1	0	0	1	2	2	1	1	2	1	4	5	2	1	4	2	rs368155889		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54969333G>A	ENST00000326764.5	+	14	2433	c.1954G>A	c.(1954-1956)Gcc>Acc	p.A652T	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	615										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)		GTCGCTGTACGCCGAGAACTT	0.577																																						ENST00000326764.5																			0				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						c.(1954-1956)Gcc>Acc		leukocyte receptor cluster (LRC) member 8		G	THR/ALA	0,4406		0,0,2203	102	96	98		1954	5.2	0.2	19		98	2,8598	2.2+/-6.3	0,2,4298	no	missense	LENG8	NM_052925.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	652/801	54969333	2,13004	2203	4300	6503	SO:0001583	missense	114823						protein binding	g.chr19:54969333G>A	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1954G>A	19.37:g.54969333G>A	ENSP00000318374:p.Ala652Thr					LENG8_ENST00000376514.2_Intron	p.A652T	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	14	2433	+	Ovarian(34;0.19)		615					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.1954G>A	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208632	0.39003	0.0	2.33E-4	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.32272	1.46;1.46;1.46	5.16	5.16	0.70880	.	0.135259	0.50627	D	0.000102	T	0.28400	0.0702	L	0.45581	1.43	0.80722	D	1	P;P	0.37781	0.608;0.588	B;B	0.33620	0.167;0.167	T	0.04708	-1.0932	10	0.38643	T	0.18	-20.2089	16.5215	0.84318	0.0:0.0:1.0:0.0	.	652;615	Q96PV6-2;F8W9Q9	.;.	T	652;615;615;652	ENSP00000318374:A652T;ENSP00000365709:A615T;ENSP00000388053:A652T	ENSP00000301196:A615T	A	+	1	0	LENG8	59661145	0.999000	0.42202	0.246000	0.24233	0.121000	0.20230	4.187000	0.58344	2.582000	0.87167	0.561000	0.74099	GCC		0.577	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		11	50	0	0	0	1	0	11	50					A	54969333	G	A	54969333	3	1	435	1	0	0	0	0	1	0	0	0	8724	1087	38	1	2004	1	LENG8	19	54969333	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2003	54969333	4159650	8477	29402											
LENG8	114823	broad.mit.edu	37	chr19	54969700	54969700	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcaaggccatgatcaaaaCgtatgtggtgccaagctccc	11	8	9	13	1	2	1	2	1	0	0	3	1	3	1	4	2	3	2	4	2	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54969700C>T	ENST00000326764.5	+	15	2719	c.2240C>T	c.(2239-2241)aCc>aTc	p.T747I	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	710										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)		ATGATCAAAACGTATGTGGTG	0.617																																						ENST00000326764.5																			0				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						c.e15+1		leukocyte receptor cluster (LRC) member 8							64	57	59					19																	54969700		2203	4300	6503	SO:0001630	splice_region_variant	114823						protein binding	g.chr19:54969700C>T	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.2240+1C>T	19.37:g.54969700C>T						LENG8_ENST00000376514.2_Intron	p.T747_splice	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	15	2719	+	Ovarian(34;0.19)		710					B0VJY9|Q8IZ27|Q8NCX6	Splice_Site	SNP	ENST00000326764.5	37	c.2240_splice	CCDS12894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.652991|4.652991	0.88056|0.88056	.|.	.|.	ENSG00000167615|ENSG00000167615	ENST00000326764;ENST00000421200|ENST00000301196;ENST00000376526;ENST00000431846	T;T|T;T	0.33438|0.33654	1.41;1.41|1.4;1.4	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.062472|0.062472	0.64402|0.64402	D|D	0.000007|0.000007	T|T	0.54351|0.54351	0.1853|0.1853	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D|D	0.56521|0.76494	0.976|0.999	P|D	0.54100|0.66602	0.742|0.945	T|T	0.56920|0.56920	-0.7899|-0.7899	10|10	0.72032|0.87932	D|D	0.01|0	-42.413|-42.413	16.2559|16.2559	0.82517|0.82517	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	747|710	Q96PV6-2|F8W9Q9	.|.	I|M	747;36|710;710;747	ENSP00000318374:T747I;ENSP00000390612:T36I|ENSP00000365709:T710M;ENSP00000388053:T747M	ENSP00000318374:T747I|ENSP00000301196:T710M	T|T	+|+	2|2	0|0	LENG8|LENG8	59661512|59661512	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	6.786000|6.786000	0.75094|0.75094	2.514000|2.514000	0.84764|0.84764	0.561000|0.561000	0.74099|0.74099	ACC;ACT|ACG		0.617	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925	Missense_Mutation	16	17	0	0	0	1	0	16	17					T	54969700	C	T	54969700	5	4	435	1	0	0	0	0	0	0	1	0	8724	550	19	1	2294	1	LENG8	19	54969700	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	367	54969700	4159283	8478	29403											
LILRA2	11027	broad.mit.edu	37	chr19	55085828	55085828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatcatccagggaagtcCtgtgaccctcaggtgtcagg	8	10	13	10	0	3	2	3	2	0	0	5	3	5	3	3	3	0	0	3	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55085828C>T	ENST00000251377.3	+	4	264	c.131C>T	c.(130-132)cCt>cTt	p.P44L	LILRA2_ENST00000251376.3_Missense_Mutation_p.P44L|LILRA2_ENST00000391738.3_Missense_Mutation_p.P44L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.P32L			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	44	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CAGGGAAGTCCTGTGACCCTC	0.547																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(130-132)cCt>cTt		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							95	97	97					19																	55085828		2203	4300	6503	SO:0001583	missense	0							g.chr19:55085828C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.131C>T	19.37:g.55085828C>T	ENSP00000251377:p.Pro44Leu					LILRA2_ENST00000391738.3_Missense_Mutation_p.P44L|LILRA2_ENST00000391737.1_Missense_Mutation_p.P32L|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P44L|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron	p.P44L						GBM - Glioblastoma multiforme(193;0.0963)	4	264	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.131C>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.197304	0.38806	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00760	5.73;5.73;5.73;5.73;5.73	2.69	1.57	0.23409	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.579180	0.03702	N	0.248710	T	0.05318	0.0141	M	0.87827	2.91	0.09310	N	0.999999	B;P;D;D;D	0.89917	0.117;0.5;0.989;0.99;1.0	B;P;D;D;D	0.83275	0.067;0.61;0.937;0.916;0.996	T	0.20273	-1.0280	10	0.87932	D	0	.	6.0222	0.19634	0.0:0.8417:0.0:0.1583	.	44;44;32;44;44	Q99702;E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;.;LIRA2_HUMAN;.	L	44;44;44;44;32	ENSP00000388131:P44L;ENSP00000251377:P44L;ENSP00000375618:P44L;ENSP00000251376:P44L;ENSP00000375617:P32L	ENSP00000251376:P44L	P	+	2	0	LILRA2	59777640	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	-0.954000	0.03873	0.432000	0.26286	0.508000	0.49915	CCT		0.547	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			28	34	0	0	0	1	0	28	34					T	55085828	C	T	55085828	3	4	435	1	0	0	0	0	1	0	0	0	8785	681	24	3	141	3	LILRA2	19	55085828	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	116128	55085828	4043155	8479	29404											
NLRP7	199713	broad.mit.edu	37	chr19	55447772	55447772	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagacagaagtcccggtaCgcggtgtcaggggtgacgtt	9	7	16	9	4	1	3	1	1	0	2	2	3	2	3	1	4	1	3	1	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55447772C>T	ENST00000590030.1	-	5	2197	c.2157G>A	c.(2155-2157)gcG>gcA	p.A719A	NLRP7_ENST00000588756.1_Silent_p.A719A|NLRP7_ENST00000448121.2_Silent_p.A691A|NLRP7_ENST00000340844.2_Silent_p.A719A|NLRP7_ENST00000328092.5_Silent_p.A691A|NLRP7_ENST00000446217.1_Silent_p.A747A|NLRP7_ENST00000592784.1_Silent_p.A719A			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	719							ATP binding (GO:0005524)			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)		AGTCCCGGTACGCGGTGTCAG	0.493																																						ENST00000446217.1																			0				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						c.(2239-2241)gcG>gcA		NLR family, pyrin domain containing 7							94	81	85					19																	55447772		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55447772C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2157G>A	19.37:g.55447772C>T						NLRP7_ENST00000328092.5_Silent_p.A691A|NLRP7_ENST00000448121.2_Silent_p.A691A|NLRP7_ENST00000590030.1_Silent_p.A719A|NLRP7_ENST00000340844.2_Silent_p.A719A|NLRP7_ENST00000592784.1_Silent_p.A719A|NLRP7_ENST00000588756.1_Silent_p.A719A	p.A747A			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	8	2643	-			719					E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.2241G>A	CCDS33109.1																																																																																				0.493	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		4	16	0	0	0	1	0	4	16					T	55447772	C	T	55447772	2	4	435	1	0	0	0	0	0	0	0	1	10482	523	19	1		1	NLRP7	19	55447772	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	361944	55447772	3681211	8480	29405											
PPP1R12C	54776	broad.mit.edu	37	chr19	55603041	55603041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctcctcctccagctctgCggccttgcgttccagggccc	3	9	10	19	2	1	0	0	0	1	0	5	0	5	0	6	2	4	3	6	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55603041C>T	ENST00000263433.3	-	21	2254	c.2239G>A	c.(2239-2241)Gca>Aca	p.A747T	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.A684T|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.A672T	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											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)		TCCAGCTCTGCGGCCTTGCGT	0.692																																						ENST00000263433.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(2239-2241)Gca>Aca		protein phosphatase 1, regulatory subunit 12C							21	22	22					19																	55603041		2200	4299	6499	SO:0001583	missense	54776					cytoplasm		g.chr19:55603041C>T	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.2239G>A	19.37:g.55603041C>T	ENSP00000263433:p.Ala747Thr					PPP1R12C_ENST00000435544.2_Missense_Mutation_p.A672T|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.A684T	p.A747T	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	21	2254	-			747						Missense_Mutation	SNP	ENST00000263433.3	37	c.2239G>A	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354696	0.41700	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.14766	2.48;2.48;2.48	4.32	3.23	0.37069	.	0.416431	0.21189	N	0.078678	T	0.25644	0.0624	L	0.46157	1.445	0.09310	N	1	D;D;D	0.76494	0.999;0.994;0.999	P;P;D	0.65773	0.798;0.734;0.938	T	0.02269	-1.1185	10	0.66056	D	0.02	.	9.6031	0.39617	0.2093:0.7906:0.0:0.0	.	672;745;747	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	T	747;684;672	ENSP00000263433:A747T;ENSP00000365573:A684T;ENSP00000387833:A672T	ENSP00000263433:A747T	A	-	1	0	PPP1R12C	60294853	0.975000	0.34042	0.029000	0.17559	0.602000	0.36980	2.384000	0.44362	0.910000	0.36722	0.556000	0.70494	GCA		0.692	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		3	9	0	0	0	1	0	3	9					T	55603041	C	T	55603041	3	4	435	1	0	0	0	0	1	0	0	0	12356	768	27	1	117	1	PPP1R12C	19	55603041	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	155269	55603041	3525942	8481	29406											
PPP1R12C	54776	broad.mit.edu	37	chr19	55623925	55623925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcactgttgacggcggCgatgttggccccgtggctca	4	9	14	14	5	2	1	2	1	0	0	2	2	2	1	3	4	0	3	3	4	0	2	rs139818172		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55623925C>T	ENST00000263433.3	-	3	496	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.A161T|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.A87T	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											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)		TTGACGGCGGCGATGTTGGCC	0.726																																						ENST00000263433.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(481-483)Gcc>Acc		protein phosphatase 1, regulatory subunit 12C		C	THR/ALA	0,4406		0,0,2203	25	30	28		481	4.1	0.7	19	dbSNP_134	28	2,8592	2.2+/-6.3	0,2,4295	yes	missense	PPP1R12C	NM_017607.2	58	0,2,6498	TT,TC,CC		0.0233,0.0,0.0154	benign	161/783	55623925	2,12998	2203	4297	6500	SO:0001583	missense	54776					cytoplasm		g.chr19:55623925C>T	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.481G>A	19.37:g.55623925C>T	ENSP00000263433:p.Ala161Thr					PPP1R12C_ENST00000435544.2_Missense_Mutation_p.A87T|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.A161T	p.A161T	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	3	496	-			161						Missense_Mutation	SNP	ENST00000263433.3	37	c.481G>A	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612455	0.87258	0.0	2.33E-4	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.52295	0.67;0.67;0.67	5.24	4.13	0.48395	Ankyrin repeat-containing domain (4);	0.309877	0.29410	N	0.012226	T	0.40522	0.1120	N	0.03154	-0.405	0.46749	D	0.999189	D;D;D	0.76494	0.999;0.998;0.999	D;P;P	0.65573	0.936;0.815;0.884	T	0.32428	-0.9907	10	0.22109	T	0.4	.	13.3308	0.60485	0.0:0.8401:0.1599:0.0	.	87;161;161	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	T	161;161;87	ENSP00000263433:A161T;ENSP00000365573:A161T;ENSP00000387833:A87T	ENSP00000263433:A161T	A	-	1	0	PPP1R12C	60315737	0.231000	0.23751	0.715000	0.30552	0.958000	0.62258	1.087000	0.30865	2.633000	0.89246	0.561000	0.74099	GCC		0.726	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		21	12	0	0	0	1	0	21	12					T	55623925	C	T	55623925	3	4	435	1	0	0	0	0	1	0	0	0	12356	768	27	1	1947	1	PPP1R12C	19	55623925	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20884	55623925	3505058	8482	29407											
PPP1R12C	54776	broad.mit.edu	37	chr19	55624037	55624037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcccttgcctcacctggCgatatctaggtagccacagg	7	9	9	16	1	2	0	1	0	1	0	3	1	3	0	5	3	2	1	5	3	3	4	rs202214879	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55624037C>T	ENST00000263433.3	-	2	463	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.A150T|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.A76T	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C									p.A150T(1)		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)		CCTCACCTGGCGATATCTAGG	0.692													C|||	4	0.000798722	0	0	5008	,	,		15519	0.004		0	False		,,,				2504	0					ENST00000263433.3																			1	Substitution - Missense(1)	p.A150T(1)	endometrium(1)	central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(448-450)Gcc>Acc		protein phosphatase 1, regulatory subunit 12C		C	THR/ALA	0,4406		0,0,2203	44	42	43		448	1.3	0.9	19		43	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPP1R12C	NM_017607.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	150/783	55624037	1,13005	2203	4300	6503	SO:0001583	missense	54776					cytoplasm		g.chr19:55624037C>T	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.448G>A	19.37:g.55624037C>T	ENSP00000263433:p.Ala150Thr					PPP1R12C_ENST00000435544.2_Missense_Mutation_p.A76T|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.A150T	p.A150T	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	2	463	-			150						Missense_Mutation	SNP	ENST00000263433.3	37	c.448G>A	CCDS12916.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.18	2.758395	0.49468	0.0	1.16E-4	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.67523	-0.27;-0.27;-0.27	4.71	1.3	0.21679	Ankyrin repeat-containing domain (4);	0.188366	0.44285	D	0.000468	T	0.53126	0.1777	L	0.50847	1.595	0.51233	D	0.999918	B;B;B	0.26147	0.143;0.118;0.143	B;B;B	0.18561	0.022;0.007;0.013	T	0.39603	-0.9606	10	0.27082	T	0.32	.	8.1569	0.31173	0.0:0.6128:0.3016:0.0857	.	76;150;150	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	T	150;150;76	ENSP00000263433:A150T;ENSP00000365573:A150T;ENSP00000387833:A76T	ENSP00000263433:A150T	A	-	1	0	PPP1R12C	60315849	0.426000	0.25506	0.862000	0.33874	0.578000	0.36192	1.712000	0.37940	0.288000	0.22398	0.561000	0.74099	GCC		0.692	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		14	19	0	0	0	1	0	14	19					T	55624037	C	T	55624037	3	4	435	1	0	0	0	0	1	0	0	0	12356	768	27	1	1984	1	PPP1R12C	19	55624037	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	112	55624037	3504946	8483	29408											
PTPRH	5794	broad.mit.edu	37	chr19	55698949	55698949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccaccatctgagactggCtgtggcccaccagggagagt	10	6	13	12	0	1	2	0	1	1	2	1	4	1	2	4	3	1	1	4	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55698949C>A	ENST00000376350.3	-	14	2520	c.2498G>T	c.(2497-2499)aGc>aTc	p.S833I	PTPRH_ENST00000263434.5_Missense_Mutation_p.S655I	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	833	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			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)		CTGAGACTGGCTGTGGCCCAC	0.587																																						ENST00000376350.3																			0				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						c.(2497-2499)aGc>aTc		protein tyrosine phosphatase, receptor type, H							95	77	83					19																	55698949		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55698949C>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2498G>T	19.37:g.55698949C>A	ENSP00000365528:p.Ser833Ile					PTPRH_ENST00000263434.5_Missense_Mutation_p.S655I	p.S833I	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	14	2520	-		Renal(1328;0.245)	833			Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.2498G>T	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198220	0.38806	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.11385	2.78;2.78	5.11	-4.36	0.03645	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	1.227220	0.06040	N	0.654638	T	0.06781	0.0173	N	0.25094	0.71	0.09310	N	1	P;P	0.51653	0.947;0.947	B;B	0.41374	0.355;0.355	T	0.35276	-0.9795	10	0.66056	D	0.02	.	5.9737	0.19367	0.0:0.2788:0.2407:0.4805	.	655;833	C9JCH2;Q9HD43	.;PTPRH_HUMAN	I	833;655	ENSP00000365528:S833I;ENSP00000263434:S655I	ENSP00000263434:S655I	S	-	2	0	PTPRH	60390761	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	0.072000	0.14617	-0.542000	0.06249	-0.136000	0.14681	AGC		0.587	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			16	22	1	0	1.45105e-14	1	1.58388e-14	16	22					A	55698949	C	A	55698949	3	1	435	1	0	0	0	0	1	0	0	0	12803	797	28	5	877	5	PTPRH	19	55698949	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	74912	55698949	3430034	8484	29409											
SAPS1	22870	broad.mit.edu	37	chr19	55743183	55743183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcacctgagctgcagggCgtcacgggcaggagggctgg	6	7	17	11	2	2	1	2	1	1	0	3	2	2	2	1	5	2	4	1	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55743183C>T	ENST00000412770.2	-	19	2859	c.2293G>A	c.(2293-2295)Gcc>Acc	p.A765T	PPP6R1_ENST00000587283.1_Missense_Mutation_p.A765T|AC010327.1_ENST00000581390.1_RNA|TMEM86B_ENST00000327042.4_5'Flank	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	765	Pro-rich.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						AGCTGCAGGGCGTCACGGGCA	0.677																																						ENST00000412770.2																			0				breast(1)	1						c.(2293-2295)Gcc>Acc		protein phosphatase 6, regulatory subunit 1							11	13	12					19																	55743183		1966	4138	6104	SO:0001583	missense	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55743183C>T	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	29195	protein-coding gene	gene with protein product		610875	"KIAA1115", "SAPS domain family, member 1"	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.2293G>A	19.37:g.55743183C>T	ENSP00000414202:p.Ala765Thr					PPP6R1_ENST00000587283.1_Missense_Mutation_p.A765T	p.A765T	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN			19	2859	-			765			Pro-rich.		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Missense_Mutation	SNP	ENST00000412770.2	37	c.2293G>A	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	C	8.235	0.805527	0.16467	.	.	ENSG00000105063	ENST00000444538;ENST00000412770	T	0.49139	0.79	3.55	-2.83	0.05769	.	1.458410	0.04379	N	0.360416	T	0.22399	0.0540	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.09422	-1.0675	10	0.16420	T	0.52	-1.6611	3.5666	0.07903	0.1893:0.3343:0.0:0.4764	.	765;127	Q9UPN7;Q96ID3	PP6R1_HUMAN;.	T	280;765	ENSP00000414202:A765T	ENSP00000414202:A765T	A	-	1	0	PPP6R1	60434995	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-0.521000	0.06245	-0.429000	0.07329	-0.258000	0.10820	GCC		0.677	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		5	3	0	0	0	1	0	5	3					T	55743183	C	T	55743183	3	4	435	1	0	0	0	0	1	0	0	0	13836	768	27	1	376	1	SAPS1	19	55743183	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44234	55743183	3385800	8485	29410											
BRSK1	84446	broad.mit.edu	37	chr19	55814126	55814126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggccgccgggtagccatgCggagcctgccatccaacgga	7	5	14	15	4	0	0	0	0	0	0	1	2	1	2	6	4	5	1	6	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55814126C>T	ENST00000309383.1	+	10	1196	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	BRSK1_ENST00000585418.1_Missense_Mutation_p.R307W|BRSK1_ENST00000326848.7_Missense_Mutation_p.R2W|BRSK1_ENST00000590333.1_Missense_Mutation_p.R323W	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	307					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			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)		GGTAGCCATGCGGAGCCTGCC	0.652																																						ENST00000309383.1																			0				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						c.(919-921)Cgg>Tgg		BR serine/threonine kinase 1							48	48	48					19																	55814126		2203	4300	6503	SO:0001583	missense	84446				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	g.chr19:55814126C>T	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.919C>T	19.37:g.55814126C>T	ENSP00000310649:p.Arg307Trp					BRSK1_ENST00000326848.7_Missense_Mutation_p.R2W|BRSK1_ENST00000585418.1_Missense_Mutation_p.R307W|BRSK1_ENST00000590333.1_Missense_Mutation_p.R323W	p.R307W	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	10	1196	+		Renal(1328;0.245)	307					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.919C>T	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	19.01	3.742936	0.69418	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.73152	-0.72;0.97	4.68	2.46	0.29980	Protein kinase-like domain (1);	0.067042	0.53938	D	0.000042	T	0.78886	0.4354	M	0.62723	1.935	0.30312	N	0.7884	D;D	0.89917	1.0;1.0	P;D	0.65987	0.872;0.94	T	0.76889	-0.2792	10	0.56958	D	0.05	.	11.9176	0.52774	0.4531:0.5469:0.0:0.0	.	307;323	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	W	307;2;2	ENSP00000310649:R307W;ENSP00000320853:R2W	ENSP00000310649:R307W	R	+	1	2	BRSK1	60505938	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.594000	0.24014	0.494000	0.27859	0.650000	0.86243	CGG		0.652	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		8	63	0	0	0	1	0	8	63					T	55814126	C	T	55814126	3	4	435	1	0	0	0	0	1	0	0	0	1523	759	27	1	957	1	BRSK1	19	55814126	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	70943	55814126	3314857	8486	29411											
BRSK1	84446	broad.mit.edu	37	chr19	55814226	55814226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggctgcatcgcgagctgcGcagtgaggagtaagacccca	10	5	15	11	3	0	2	0	1	0	1	1	5	0	3	2	2	3	5	2	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55814226G>A	ENST00000309383.1	+	10	1296	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	BRSK1_ENST00000585418.1_Missense_Mutation_p.R340H|BRSK1_ENST00000326848.7_Missense_Mutation_p.R35H|BRSK1_ENST00000590333.1_Missense_Mutation_p.R356H	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	340	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.R340H(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)		CGCGAGCTGCGCAGTGAGGAG	0.662																																						ENST00000309383.1																			2	Substitution - Missense(2)	p.R340H(2)	haematopoietic_and_lymphoid_tissue(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						c.(1018-1020)cGc>cAc		BR serine/threonine kinase 1							55	43	47					19																	55814226		2203	4300	6503	SO:0001583	missense	84446				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	g.chr19:55814226G>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1019G>A	19.37:g.55814226G>A	ENSP00000310649:p.Arg340His					BRSK1_ENST00000326848.7_Missense_Mutation_p.R35H|BRSK1_ENST00000585418.1_Missense_Mutation_p.R340H|BRSK1_ENST00000590333.1_Missense_Mutation_p.R356H	p.R340H	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	10	1296	+		Renal(1328;0.245)	340			UBA.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.1019G>A	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	15.60	2.880241	0.51801	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.71817	-0.6;1.96	4.69	3.57	0.40892	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);	0.301128	0.28865	N	0.013882	T	0.60366	0.2263	N	0.08118	0	0.32308	N	0.564093	D;D	0.71674	0.996;0.998	P;P	0.61201	0.771;0.885	T	0.66122	-0.6002	10	0.87932	D	0	.	3.8622	0.09001	0.184:0.0:0.6122:0.2038	.	340;356	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	H	340;35;35	ENSP00000310649:R340H;ENSP00000320853:R35H	ENSP00000310649:R340H	R	+	2	0	BRSK1	60506038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.993000	0.29680	2.345000	0.79718	0.655000	0.94253	CGC		0.662	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		9	27	0	0	0	1	0	9	27					A	55814226	G	A	55814226	3	1	435	1	0	0	0	0	1	0	0	0	1523	1087	38	1	1057	1	BRSK1	19	55814226	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	100	55814226	3314757	8487	29412											
TMEM190	147744	broad.mit.edu	37	chr19	55889218	55889218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctggtctggacgtgcagcgGcctcctcctcctgagctgca	4	9	13	15	2	1	1	0	1	1	0	4	2	4	2	4	3	4	4	4	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55889218G>A	ENST00000291934.3	+	4	287	c.269G>A	c.(268-270)gGc>gAc	p.G90D	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	90					hematopoietic progenitor cell differentiation (GO:0002244)	inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACGTGCAGCGGCCTCCTCCTC	0.697																																						ENST00000291934.3																			0				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						c.(268-270)gGc>gAc		transmembrane protein 190							48	50	49					19																	55889218		2203	4300	6503	SO:0001583	missense	147744					integral to membrane		g.chr19:55889218G>A	AF442729	CCDS33113.1	19q13.42	2011-09-28				ENSG00000160472			29632	protein-coding gene	gene with protein product						21273369	Standard	NM_139172		Approved	MDAC1	uc002qkt.1	Q8WZ59		ENST00000291934.3:c.269G>A	19.37:g.55889218G>A	ENSP00000291934:p.Gly90Asp					CTD-2105E13.15_ENST00000595064.1_RNA	p.G90D	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	4	287	+	Breast(117;0.191)		90					A6NJL5	Missense_Mutation	SNP	ENST00000291934.3	37	c.269G>A	CCDS33113.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639183	0.29157	.	.	ENSG00000160472	ENST00000291934	.	.	.	3.31	3.31	0.37934	.	0.164142	0.28718	N	0.014363	T	0.38585	0.1046	N	0.24115	0.695	0.29399	N	0.862044	D	0.57257	0.979	P	0.53518	0.728	T	0.25676	-1.0125	9	0.56958	D	0.05	.	10.2689	0.43470	0.0:0.0:1.0:0.0	.	90	Q8WZ59	TM190_HUMAN	D	90	.	ENSP00000291934:G90D	G	+	2	0	TMEM190	60581030	0.139000	0.22563	0.997000	0.53966	0.087000	0.18053	1.685000	0.37659	1.869000	0.54173	0.313000	0.20887	GGC		0.697	TMEM190-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453042.1	NM_139172		9	16	0	0	0	1	0	9	16					A	55889218	G	A	55889218	3	1	435	1	0	0	0	0	1	0	0	0	16111	1203	42	3	283	3	TMEM190	19	55889218	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	74992	55889218	3239765	8488	29413											
RPL28	6158	broad.mit.edu	37	chr19	55899546	55899546	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctactccccacacccagCattggcctagggggcggctt	7	7	11	16	1	0	0	0	0	0	0	1	0	1	0	5	4	3	2	5	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55899546C>T	ENST00000344063.2	+	5	953				RPL28_ENST00000558815.1_Intron|RPL28_ENST00000458349.2_Intron|RPL28_ENST00000559463.1_Intron|RPL28_ENST00000558131.1_Intron|RPL28_ENST00000560583.1_Missense_Mutation_p.H152Y|RPL28_ENST00000560055.1_Intron			P46779	RL28_HUMAN	ribosomal protein L28						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		CCACACCCAGCATTGGCCTAG	0.647																																						ENST00000560583.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(454-456)Cat>Tat		ribosomal protein L28							45	48	47					19																	55899546		692	1591	2283	SO:0001627	intron_variant	6158				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:55899546C>T	U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"L ribosomal proteins"	10330	protein-coding gene	gene with protein product	"60S ribosomal protein L28"	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.325-65C>T	19.37:g.55899546C>T						RPL28_ENST00000560055.1_Intron|RPL28_ENST00000344063.2_Intron|RPL28_ENST00000458349.2_Intron|RPL28_ENST00000558815.1_Intron|RPL28_ENST00000559463.1_Intron|RPL28_ENST00000558131.1_Intron	p.H152Y	NM_001136134.1	NP_001129606.1	P46779	RL28_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)	4	494	+	Breast(117;0.191)	Renal(1328;0.245)	0					B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	ENST00000344063.2	37	c.454C>T	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	C	8.025	0.760480	0.15914	.	.	ENSG00000108107	ENST00000426763	.	.	.	2.17	-3.96	0.04106	.	.	.	.	.	T	0.19886	0.0478	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21690	-1.0238	6	.	.	.	.	4.8741	0.13648	0.0:0.2615:0.1982:0.5404	.	152	B4DEP9	.	Y	152	.	.	H	+	1	0	RPL28	60591358	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.159000	0.10056	-0.728000	0.04882	-0.379000	0.06801	CAT		0.647	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	NM_000991		5	3	0	0	0	1	0	5	3					T	55899546	C	T	55899546	1	4	435	0	1	0	0	0	0	0	0	0	13577	710	25	3		3	RPL28	19	55899546	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10328	55899546	3229437	8489	29414											
FIZ1	84922	broad.mit.edu	37	chr19	56109064	56109064	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcttgaaacccttgccGcagcgcggacatgcgtgggg	6	8	15	12	4	0	1	0	1	0	0	0	2	0	2	2	3	5	2	2	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56109064G>A	ENST00000221665.3	-	2	257	c.168C>T	c.(166-168)tgC>tgT	p.C56C	ZNF524_ENST00000301073.3_5'Flank|FIZ1_ENST00000592585.1_Intron	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	56					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AACCCTTGCCGCAGCGCGGAC	0.657																																						ENST00000221665.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(166-168)tgC>tgT		FLT3-interacting zinc finger 1							62	56	58					19																	56109064		2203	4300	6503	SO:0001819	synonymous_variant	84922				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	g.chr19:56109064G>A	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"Zinc fingers, C2H2-type"	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.168C>T	19.37:g.56109064G>A						FIZ1_ENST00000592585.1_Intron	p.C56C	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	2	257	-			56					A2RU72|Q6ZMJ7	Silent	SNP	ENST00000221665.3	37	c.168C>T	CCDS12928.1																																																																																				0.657	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		24	30	0	0	0	1	0	24	30					A	56109064	G	A	56109064	2	1	435	1	0	0	0	0	0	0	0	1	5900	1079	38	1		1	FIZ1	19	56109064	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	209518	56109064	3019919	8490	29415											
U2AF2	11338	broad.mit.edu	37	chr19	56170636	56170636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctctcggagccgggaccGcaaacgccggagccggagcc	7	2	15	17	7	1	0	0	0	1	0	2	4	1	4	6	4	4	2	6	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56170636G>A	ENST00000308924.4	+	2	150	c.110G>A	c.(109-111)cGc>cAc	p.R37H	CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000450554.2_Missense_Mutation_p.R37H|CTD-2537I9.12_ENST00000585940.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	37	Arg/Ser-rich (RS domain).|Required for interaction with PRPF19. {ECO:0000269|PubMed:21536736}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			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)		AGCCGGGACCGCAAACGCCGG	0.711																																						ENST00000450554.2																			0				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						c.(109-111)cGc>cAc		U2 small nuclear RNA auxiliary factor 2																																				SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56170636G>A	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"RNA binding motif (RRM) containing"	23156	protein-coding gene	gene with protein product	"U2 small nuclear ribonucleoprotein auxiliary factor (65kD)", "splicing factor U2AF 65 kD subunit", "U2 snRNP auxiliary factor large subunit"	191318	"U2 (RNU2) small nuclear RNA auxiliary factor 2"			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.110G>A	19.37:g.56170636G>A	ENSP00000307863:p.Arg37His					U2AF2_ENST00000308924.4_Missense_Mutation_p.R37H	p.R37H	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	2	1069	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	37			Arg/Ser-rich (RS domain).		Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.110G>A	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423479	0.83559	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.13538	2.58;2.59	3.99	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.16428	0.0395	L	0.46157	1.445	0.80722	D	1	D;P	0.54047	0.964;0.94	B;P	0.45474	0.289;0.482	T	0.03898	-1.0994	10	0.31617	T	0.26	-18.3011	15.4549	0.75305	0.0:0.0:1.0:0.0	.	37;37	P26368;P26368-2	U2AF2_HUMAN;.	H	37	ENSP00000307863:R37H;ENSP00000388475:R37H	ENSP00000307863:R37H	R	+	2	0	U2AF2	60862448	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.227000	0.72282	2.244000	0.73946	0.485000	0.47835	CGC		0.711	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		5	10	0	0	0	1	0	5	10					A	56170636	G	A	56170636	3	1	435	1	0	0	0	0	1	0	0	0	16820	1087	38	1	116	1	U2AF2	19	56170636	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	61572	56170636	2958347	8491	29416											
NLRP9	338321	broad.mit.edu	37	chr19	56223303	56223303	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgctgcggcgatgtcgtcGcagcaggcacgggtgatcgg	6	7	18	10	6	0	1	0	1	0	0	3	2	0	1	0	4	3	4	0	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56223303G>A	ENST00000332836.2	-	8	2733	c.2706C>T	c.(2704-2706)tgC>tgT	p.C902C	CTD-2611O12.8_ENST00000596293.1_RNA|CTD-2611O12.7_ENST00000597680.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	902						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			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)		CGATGTCGTCGCAGCAGGCAC	0.567																																						ENST00000332836.2																			0				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						c.(2704-2706)tgC>tgT		NLR family, pyrin domain containing 9							80	69	73					19																	56223303		2202	4298	6500	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56223303G>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2706C>T	19.37:g.56223303G>A							p.C902C	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	8	2733	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	902					B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.2706C>T	CCDS12934.1																																																																																				0.567	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		16	19	0	0	0	1	0	16	19					A	56223303	G	A	56223303	2	1	435	1	0	0	0	0	0	0	0	1	10484	1079	38	1		1	NLRP9	19	56223303	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	52667	56223303	2905680	8492	29417											
NLRP9	338321	broad.mit.edu	37	chr19	56228221	56228221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcaggccaggacggaggCgatgtcttcacaaacttcac	10	8	12	11	2	3	0	2	0	1	0	3	3	3	2	1	4	2	2	1	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56228221C>T	ENST00000332836.2	-	5	2230	c.2203G>A	c.(2203-2205)Gcc>Acc	p.A735T		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	735						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			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)		AGGACGGAGGCGATGTCTTCA	0.493																																						ENST00000332836.2																			0				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						c.(2203-2205)Gcc>Acc		NLR family, pyrin domain containing 9							184	146	159					19																	56228221		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56228221C>T	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2203G>A	19.37:g.56228221C>T	ENSP00000331857:p.Ala735Thr						p.A735T	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	5	2230	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	735					B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.2203G>A	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073173	0.36566	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.15256	2.44	2.51	-0.967	0.10316	.	.	.	.	.	T	0.23330	0.0564	M	0.72479	2.2	0.09310	N	1	D	0.65815	0.995	P	0.52159	0.691	T	0.13282	-1.0515	9	0.56958	D	0.05	.	2.4865	0.04600	0.2323:0.4943:0.0:0.2734	.	735	Q7RTR0	NALP9_HUMAN	T	735	ENSP00000331857:A735T	ENSP00000331857:A735T	A	-	1	0	NLRP9	60920033	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.703000	0.05063	-0.084000	0.12595	-0.190000	0.12839	GCC		0.493	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		17	29	0	0	0	1	0	17	29					T	56228221	C	T	56228221	3	4	435	1	0	0	0	0	1	0	0	0	10484	768	27	1	792	1	NLRP9	19	56228221	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4918	56228221	2900762	8493	29418											
NLRP11	204801	broad.mit.edu	37	chr19	56307518	56307518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatcccgtcgctcctcagcGgattgctggataaggtcagt	7	11	11	12	3	3	0	3	0	0	0	6	2	5	2	2	3	2	2	2	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56307518G>A	ENST00000589093.1	-	6	2363	c.2270C>T	c.(2269-2271)cCg>cTg	p.P757L	NLRP11_ENST00000443188.1_Missense_Mutation_p.P757L|NLRP11_ENST00000592953.1_Missense_Mutation_p.P658L|NLRP11_ENST00000589824.2_Missense_Mutation_p.P703L|NLRP11_ENST00000360133.3_Missense_Mutation_p.P703L			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	757							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			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)		GCTCCTCAGCGGATTGCTGGA	0.498																																						ENST00000443188.1																			0				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						c.(2269-2271)cCg>cTg		NLR family, pyrin domain containing 11							191	168	176					19																	56307518		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56307518G>A	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2270C>T	19.37:g.56307518G>A	ENSP00000466285:p.Pro757Leu					NLRP11_ENST00000589093.1_Missense_Mutation_p.P757L|NLRP11_ENST00000592953.1_Missense_Mutation_p.P658L|NLRP11_ENST00000360133.3_Missense_Mutation_p.P703L|NLRP11_ENST00000589824.2_Missense_Mutation_p.P703L	p.P757L	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	8	2980	-		Colorectal(82;0.0002)	757					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2270C>T	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	9.440	1.087770	0.20390	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.13089	2.62;2.62	2.58	-4.08	0.03963	.	.	.	.	.	T	0.14399	0.0348	L	0.60957	1.885	0.09310	N	1	P;D	0.56035	0.796;0.974	B;P	0.48454	0.195;0.578	T	0.10800	-1.0614	9	0.31617	T	0.26	.	4.8849	0.13697	0.1283:0.0:0.2501:0.6215	.	757;703	P59045;P59045-2	NAL11_HUMAN;.	L	757;703	ENSP00000409898:P757L;ENSP00000353251:P703L	ENSP00000353251:P703L	P	-	2	0	NLRP11	60999330	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.714000	0.01881	-0.730000	0.04869	0.609000	0.83330	CCG		0.498	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		52	78	0	0	0	1	0	52	78					A	56307518	G	A	56307518	3	1	435	1	0	0	0	0	1	0	0	0	10473	1116	39	2	851	2	NLRP11	19	56307518	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	79297	56307518	2821465	8494	29419											
NLRP13	126204	broad.mit.edu	37	chr19	56424065	56424065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcatggattcactaatgagGccttaagatctctcacaaac	14	10	7	10	0	3	2	2	1	1	1	4	3	3	3	1	2	2	1	1	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56424065G>A	ENST00000342929.3	-	5	1117	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	NLRP13_ENST00000588751.1_Missense_Mutation_p.A373V	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	373	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			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)		CACTAATGAGGCCTTAAGATC	0.438																																						ENST00000588751.1																			0				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						c.(1117-1119)gCc>gTc		NLR family, pyrin domain containing 13							120	114	116					19																	56424065		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56424065G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1118C>T	19.37:g.56424065G>A	ENSP00000343891:p.Ala373Val					NLRP13_ENST00000342929.3_Missense_Mutation_p.A373V	p.A373V			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1142	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	373			NACHT.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.1118C>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	5.115	0.206808	0.09704	.	.	ENSG00000173572	ENST00000342929	T	0.78816	-1.21	2.81	-5.62	0.02481	.	.	.	.	.	T	0.53465	0.1798	N	0.08118	0	0.09310	N	1	B	0.21821	0.061	B	0.29716	0.106	T	0.44952	-0.9294	9	0.30078	T	0.28	.	5.8513	0.18694	0.0:0.5054:0.3032:0.1914	.	373	Q86W25	NAL13_HUMAN	V	373	ENSP00000343891:A373V	ENSP00000343891:A373V	A	-	2	0	NLRP13	61115877	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.313000	0.01126	-1.299000	0.02344	-1.181000	0.01715	GCC		0.438	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		45	109	0	0	0	1	0	45	109					A	56424065	G	A	56424065	3	1	435	1	0	0	0	0	1	0	0	0	10475	1203	42	3	2039	3	NLRP13	19	56424065	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	116547	56424065	2704918	8495	29420											
NLRP13	126204	broad.mit.edu	37	chr19	56424125	56424125	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaggtagccaggggaaccAattctttcttcaacaagctg	12	10	10	9	0	3	0	1	0	2	0	3	1	3	1	2	3	4	3	2	3	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56424125A>G	ENST00000342929.3	-	5	1057	c.1058T>C	c.(1057-1059)tTg>tCg	p.L353S	NLRP13_ENST00000588751.1_Missense_Mutation_p.L353S	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	353	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			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)		CAGGGGAACCAATTCTTTCTT	0.473																																						ENST00000588751.1																			0				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						c.(1057-1059)tTg>tCg		NLR family, pyrin domain containing 13							112	106	108					19																	56424125		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56424125A>G	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1058T>C	19.37:g.56424125A>G	ENSP00000343891:p.Leu353Ser					NLRP13_ENST00000342929.3_Missense_Mutation_p.L353S	p.L353S			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1082	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	353			NACHT.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.1058T>C	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.084117	0.36758	.	.	ENSG00000173572	ENST00000342929	D	0.82167	-1.58	2.7	1.65	0.23941	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.88548	0.6466	M	0.78344	2.41	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76326	-0.3000	9	0.87932	D	0	.	4.6068	0.12382	0.8275:0.0:0.1725:0.0	.	353	Q86W25	NAL13_HUMAN	S	353	ENSP00000343891:L353S	ENSP00000343891:L353S	L	-	2	0	NLRP13	61115937	0.021000	0.18746	0.000000	0.03702	0.052000	0.14988	3.211000	0.51137	0.270000	0.21984	0.482000	0.46254	TTG		0.473	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		32	67	0	0	0	1	0	32	67					G	56424125	A	G	56424125	3	3	435	1	0	0	0	0	1	0	0	0	10475	131	5	4	2099	4	NLRP13	19	56424125	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	60	56424125	2704858	8496	29421											
NLRP8	126205	broad.mit.edu	37	chr19	56465875	56465875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacaaatctaggtaaaataCggcggtataaatcgaatgtg	16	10	9	6	3	2	0	1	0	1	0	3	1	2	0	0	3	1	2	0	3	9	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56465875C>T	ENST00000291971.3	+	3	522	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	NLRP8_ENST00000590542.1_Missense_Mutation_p.R151W	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	151					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			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)		AGGTAAAATACGGCGGTATAA	0.408																																						ENST00000291971.3																			0				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						c.(451-453)Cgg>Tgg		NLR family, pyrin domain containing 8							81	82	82					19																	56465875		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56465875C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.451C>T	19.37:g.56465875C>T	ENSP00000291971:p.Arg151Trp					NLRP8_ENST00000590542.1_Missense_Mutation_p.R151W	p.R151W	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	522	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	151					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.451C>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	3.567	-0.088520	0.07097	.	.	ENSG00000179709	ENST00000291971	T	0.74421	-0.84	1.77	-3.53	0.04667	.	.	.	.	.	T	0.55737	0.1939	N	0.14661	0.345	0.09310	N	1	D;B	0.64830	0.994;0.004	P;B	0.50049	0.629;0.001	T	0.49409	-0.8943	9	0.46703	T	0.11	.	0.2525	0.00207	0.2049:0.2849:0.2028:0.3074	.	151;151	Q86W28-2;Q86W28	.;NALP8_HUMAN	W	151	ENSP00000291971:R151W	ENSP00000291971:R151W	R	+	1	2	NLRP8	61157687	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.877000	0.04197	-1.112000	0.02984	-1.499000	0.00960	CGG		0.408	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		37	35	0	0	0	1	0	37	35					T	56465875	C	T	56465875	3	4	435	1	0	0	0	0	1	0	0	0	10483	527	19	1	461	1	NLRP8	19	56465875	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	41750	56465875	2663108	8497	29422											
NLRP8	126205	broad.mit.edu	37	chr19	56466968	56466968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttttcaggaattttttgCggccttgttttatgttctct	5	21	8	7	1	2	0	1	0	1	0	3	2	2	1	1	2	1	2	1	2	2	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56466968C>T	ENST00000291971.3	+	3	1615	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V	NLRP8_ENST00000590542.1_Missense_Mutation_p.A515V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	515	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			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)		GAATTTTTTGCGGCCTTGTTT	0.468																																						ENST00000291971.3																			0				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						c.(1543-1545)gCg>gTg		NLR family, pyrin domain containing 8							192	187	189					19																	56466968		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466968C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1544C>T	19.37:g.56466968C>T	ENSP00000291971:p.Ala515Val					NLRP8_ENST00000590542.1_Missense_Mutation_p.A515V	p.A515V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1615	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	515			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1544C>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.862872	0.71949	.	.	ENSG00000179709	ENST00000291971	D	0.90504	-2.68	1.92	1.92	0.25849	.	.	.	.	.	D	0.94499	0.8229	M	0.86268	2.805	0.22435	N	0.999104	D;D	0.89917	1.0;1.0	D;D	0.79108	0.968;0.992	D	0.85147	0.0984	9	0.87932	D	0	.	7.3591	0.26735	0.0:1.0:0.0:0.0	.	515;515	Q86W28-2;Q86W28	.;NALP8_HUMAN	V	515	ENSP00000291971:A515V	ENSP00000291971:A515V	A	+	2	0	NLRP8	61158780	0.991000	0.36638	0.010000	0.14722	0.564000	0.35744	3.092000	0.50207	1.389000	0.46526	0.514000	0.50259	GCG		0.468	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		54	84	0	0	0	1	0	54	84					T	56466968	C	T	56466968	3	4	435	1	0	0	0	0	1	0	0	0	10483	768	27	1	1554	1	NLRP8	19	56466968	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1093	56466968	2662015	8498	29423											
ZNF787	126208	broad.mit.edu	37	chr19	56600280	56600280	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgggccgctcgccggtgtgCgtgcgctggtgccgcgtcag	1	9	18	13	7	1	0	1	0	0	0	2	0	1	0	3	3	3	2	3	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56600280C>T	ENST00000270459.3	-	3	379	c.261G>A	c.(259-261)acG>acA	p.T87T		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CGCCGGTGTGCGTGCGCTGGT	0.716																																						ENST00000270459.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						c.(259-261)acG>acA		zinc finger protein 787							15	16	16					19																	56600280		2198	4287	6485	SO:0001819	synonymous_variant	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56600280C>T	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"Zinc fingers, C2H2-type"	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.261G>A	19.37:g.56600280C>T							p.T87T	NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	3	379	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	87					O00455	Silent	SNP	ENST00000270459.3	37	c.261G>A	CCDS42634.1																																																																																				0.716	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		8	15	0	0	0	1	0	8	15					T	56600280	C	T	56600280	2	4	435	1	0	0	0	0	0	0	0	1	18156	755	27	1		1	ZNF787	19	56600280	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	133312	56600280	2528703	8499	29424											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56701610	56701610	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatgatttattgcacacGtcacatgcaaagggcggcag	13	10	10	8	2	1	1	1	1	0	0	1	1	1	1	0	2	2	3	0	2	4	4	rs537974249		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56701610G>A	ENST00000586855.2	-	5	1387	c.1074C>T	c.(1072-1074)gaC>gaT	p.D358D	ZSCAN5B_ENST00000358992.3_Silent_p.D358D			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	358					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TATTGCACACGTCACATGCAA	0.532													G|||	1	0.000199681	0	0	5008	,	,		19498	0.001		0	False		,,,				2504	0					ENST00000586855.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1072-1074)gaC>gaT		zinc finger and SCAN domain containing 5B							75	78	77					19																	56701610		2201	4295	6496	SO:0001819	synonymous_variant	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701610G>A		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1074C>T	19.37:g.56701610G>A						ZSCAN5B_ENST00000358992.3_Silent_p.D358D	p.D358D			A6NJL1	ZSA5B_HUMAN			5	1387	-			358						Silent	SNP	ENST00000586855.2	37	c.1074C>T	CCDS46203.1																																																																																				0.532	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		24	35	0	0	0	1	0	24	35					A	56701610	G	A	56701610	2	1	435	1	0	0	0	0	0	0	0	1	18236	1136	40	1		1	ZSCAN5B	19	56701610	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	101330	56701610	2427373	8500	29425											
ZNF583	147949	broad.mit.edu	37	chr19	56935181	56935181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accctacgaatgtaaggaatGtaggaaagccttcagccagt	14	8	10	9	1	1	0	1	0	0	0	1	3	1	2	3	2	3	2	3	2	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56935181G>A	ENST00000333201.9	+	5	1364	c.1154G>A	c.(1153-1155)tGt>tAt	p.C385Y	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.C385Y	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TGTAAGGAATGTAGGAAAGCC	0.418																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1153-1155)tGt>tAt		zinc finger protein 583							88	89	88					19																	56935181		2203	4299	6502	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935181G>A	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1154G>A	19.37:g.56935181G>A	ENSP00000388502:p.Cys385Tyr					ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.C385Y	p.C385Y	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1364	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	385					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1154G>A	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198502	0.79015	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	D;D	0.85861	-2.04;-2.04	4.33	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000265	D	0.94338	0.8180	H	0.94808	3.585	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.95825	0.8853	9	.	.	.	.	16.1017	0.81175	0.0:0.0:1.0:0.0	.	385	Q96ND8	ZN583_HUMAN	Y	385	ENSP00000291598:C385Y;ENSP00000388502:C385Y	.	C	+	2	0	ZNF583	61626993	1.000000	0.71417	0.942000	0.38095	0.994000	0.84299	9.392000	0.97252	2.415000	0.81967	0.462000	0.41574	TGT		0.418	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		24	39	0	0	0	1	0	24	39					A	56935181	G	A	56935181	3	1	435	1	0	0	0	0	1	0	0	0	18012	1377	48	3	1168	3	ZNF583	19	56935181	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	233571	56935181	2193802	8501	29426											
ZNF835	90485	broad.mit.edu	37	chr19	57175979	57175979	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggccttgccgcagtcggcGcagcggtgcggcttctcgcc	4	7	15	15	6	1	0	0	0	1	0	3	0	1	0	3	4	3	3	3	4	1	2	rs376712708		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:57175979G>A	ENST00000537055.2	-	2	819	c.588C>T	c.(586-588)tgC>tgT	p.C196C		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGCAGTCGGCGCAGCGGTGCG	0.726																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(586-588)tgC>tgT		zinc finger protein 835							12	13	13					19																	57175979		2185	4241	6426	SO:0001819	synonymous_variant	90485							g.chr19:57175979G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.588C>T	19.37:g.57175979G>A							p.C196C	NM_001005850.2	NP_001005850.2					2	819	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.588C>T	CCDS56105.1																																																																																				0.726	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		11	8	0	0	0	1	0	11	8					A	57175979	G	A	57175979	2	1	435	1	0	0	0	0	0	0	0	1	18183	1079	38	1		1	ZNF835	19	57175979	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	240798	57175979	1953004	8502	29427											
ZNF835	90485	broad.mit.edu	37	chr19	57176450	57176450	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtctcccttgcaggccacGgcctctggctctggacagct	4	9	13	15	1	3	0	0	0	3	0	4	1	3	1	3	5	2	3	3	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:57176450G>A	ENST00000537055.2	-	2	348	c.117C>T	c.(115-117)gcC>gcT	p.A39A		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	39					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGCAGGCCACGGCCTCTGGCT	0.602																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(115-117)gcC>gcT		zinc finger protein 835							78	84	82					19																	57176450		1994	4165	6159	SO:0001819	synonymous_variant	90485							g.chr19:57176450G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.117C>T	19.37:g.57176450G>A							p.A39A	NM_001005850.2	NP_001005850.2					2	348	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.117C>T	CCDS56105.1																																																																																				0.602	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		10	34	0	0	0	1	0	10	34					A	57176450	G	A	57176450	2	1	435	1	0	0	0	0	0	0	0	1	18183	1103	39	2		2	ZNF835	19	57176450	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	471	57176450	1952533	8503	29428											
ZIM2	23619	broad.mit.edu	37	chr19	57286765	57286765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgattgtttactaagattaGagcttctctcaaattcatca	12	17	5	7	0	4	3	3	1	1	2	5	3	4	3	0	0	2	2	0	0	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:57286765G>T	ENST00000391708.3	-	12	1417	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	ZIM2_ENST00000599935.1_Missense_Mutation_p.S292Y|ZIM2_ENST00000221722.5_Missense_Mutation_p.S292Y|ZIM2_ENST00000593711.1_Missense_Mutation_p.S292Y|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.S292Y|AC006115.3_ENST00000597946.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		ACTAAGATTAGAGCTTCTCTC	0.463																																						ENST00000391708.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(874-876)tCt>tAt		zinc finger, imprinted 2							126	121	122					19																	57286765		2203	4300	6503	SO:0001583	missense	23619							g.chr19:57286765G>T	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"Zinc fingers, C2H2-type"	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.875C>A	19.37:g.57286765G>T	ENSP00000375589:p.Ser292Tyr					ZIM2_ENST00000601070.1_Missense_Mutation_p.S292Y|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.S292Y|ZIM2_ENST00000599935.1_Missense_Mutation_p.S292Y|ZIM2_ENST00000593711.1_Missense_Mutation_p.S292Y|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA	p.S292Y	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1				GBM - Glioblastoma multiforme(193;0.0314)	12	1417	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)						Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.875C>A	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041604	0.35989	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.05139	3.49;3.49	3.94	0.182	0.15077	.	.	.	.	.	T	0.04318	0.0119	N	0.24115	0.695	.	.	.	P	0.46277	0.875	B	0.41571	0.36	T	0.34875	-0.9811	8	0.59425	D	0.04	.	4.0301	0.09705	0.3366:0.1969:0.4665:0.0	.	292	Q9NZV7	ZIM2_HUMAN	Y	292	ENSP00000375589:S292Y;ENSP00000221722:S292Y	ENSP00000221722:S292Y	S	-	2	0	ZIM2	61978577	.	.	0.000000	0.03702	0.007000	0.05969	.	.	0.150000	0.19136	0.655000	0.94253	TCT		0.463	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			29	62	1	0	1.06801e-11	1	1.15033e-11	29	62					T	57286765	G	T	57286765	3	4	435	1	0	0	0	0	1	0	0	0	17681	942	33	5	712	5	ZIM2	19	57286765	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	110315	57286765	1842218	8504	29429											
PEG3	5178	broad.mit.edu	37	chr19	57325822	57325822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccttgcattcatagaatgGtatagctcctttgaggggct	9	14	10	8	0	1	2	1	1	0	1	3	2	3	2	2	3	2	4	2	3	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:57325822G>A	ENST00000326441.9	-	10	4351	c.3988C>T	c.(3988-3990)Cca>Tca	p.P1330S	PEG3_ENST00000598410.1_Missense_Mutation_p.P1206S|PEG3_ENST00000593695.1_Missense_Mutation_p.P1204S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.P1330S|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1330					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			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)		TCATAGAATGGTATAGCTCCT	0.423																																						ENST00000326441.9																			0				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						c.(3988-3990)Cca>Tca		paternally expressed 3							89	87	88					19																	57325822		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325822G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3988C>T	19.37:g.57325822G>A	ENSP00000326581:p.Pro1330Ser					PEG3_ENST00000593695.1_Missense_Mutation_p.P1204S|PEG3_ENST00000423103.2_Missense_Mutation_p.P1330S|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.P1206S|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron	p.P1330S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	4351	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1330					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3988C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273784	0.59649	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02916	4.11;4.11	4.48	2.38	0.29361	.	0.000000	0.47093	D	0.000246	T	0.11153	0.0272	M	0.73753	2.245	.	.	.	B;D;D	0.89917	0.192;1.0;1.0	B;D;D	0.83275	0.048;0.996;0.996	T	0.12400	-1.0549	9	0.33141	T	0.24	-7.766	9.0036	0.36097	0.1831:0.0:0.8169:0.0	.	1206;1330;1265	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	1330	ENSP00000326581:P1330S;ENSP00000403051:P1330S	ENSP00000326581:P1330S	P	-	1	0	ZIM2	62017634	0.092000	0.21681	0.085000	0.20634	0.993000	0.82548	1.387000	0.34430	0.830000	0.34757	0.655000	0.94253	CCA		0.423	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			25	53	0	0	0	1	0	25	53					A	57325822	G	A	57325822	3	1	435	1	0	0	0	0	1	0	0	0	11720	1261	44	3	782	3	PEG3	19	57325822	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	39057	57325822	1803161	8505	29430											
USP29	57663	broad.mit.edu	37	chr19	57640482	57640482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccaagttatcagaagatgCctttgtttatgtcaaaatca	14	13	7	7	0	3	2	3	0	0	2	3	2	3	2	2	0	2	2	2	0	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:57640482C>T	ENST00000254181.4	+	4	893	c.439C>T	c.(439-441)Cct>Tct	p.P147S	USP29_ENST00000598197.1_Missense_Mutation_p.P147S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	147					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			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)		TCAGAAGATGCCTTTGTTTAT	0.363																																						ENST00000254181.4																			0				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						c.(439-441)Cct>Tct		ubiquitin specific peptidase 29							81	76	78					19																	57640482		2203	4300	6503	SO:0001583	missense	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640482C>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.439C>T	19.37:g.57640482C>T	ENSP00000254181:p.Pro147Ser					USP29_ENST00000598197.1_Missense_Mutation_p.P147S	p.P147S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	893	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	147						Missense_Mutation	SNP	ENST00000254181.4	37	c.439C>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658628	0.29515	.	.	ENSG00000131864	ENST00000254181	T	0.56611	0.45	2.53	1.48	0.22813	.	1.055250	0.07639	U	0.930035	T	0.56717	0.2004	L	0.54323	1.7	0.09310	N	1	D	0.62365	0.991	P	0.54210	0.745	T	0.44697	-0.9311	10	0.66056	D	0.02	-3.9695	4.979	0.14155	0.0:0.8264:0.0:0.1736	.	147	Q9HBJ7	UBP29_HUMAN	S	147	ENSP00000254181:P147S	ENSP00000254181:P147S	P	+	1	0	USP29	62332294	0.000000	0.05858	0.004000	0.12327	0.078000	0.17371	-0.110000	0.10824	0.590000	0.29694	0.591000	0.81541	CCT		0.363	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			20	33	0	0	0	1	0	20	33					T	57640482	C	T	57640482	3	4	435	1	0	0	0	0	1	0	0	0	17056	739	26	3	441	3	USP29	19	57640482	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	314660	57640482	1488501	8506	29431											
AURKC	6795	broad.mit.edu	37	chr19	57746297	57746297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactacttgccgccagaaatGattgaggggagaacatatga	14	8	12	7	1	0	5	0	3	0	2	0	7	0	5	2	2	3	0	2	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:57746297G>A	ENST00000302804.7	+	6	816	c.630G>A	c.(628-630)atG>atA	p.M210I	AURKC_ENST00000598785.1_Missense_Mutation_p.M176I|AURKC_ENST00000415300.2_Missense_Mutation_p.M191I|AURKC_ENST00000448930.1_Missense_Mutation_p.M176I|AURKC_ENST00000599062.1_Missense_Mutation_p.M207I	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.M176I(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CGCCAGAAATGATTGAGGGGA	0.507																																						ENST00000302804.7																			1	Substitution - Missense(1)	p.M176I(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25						c.(628-630)atG>atA		aurora kinase C							143	117	126					19																	57746297		2203	4300	6503	SO:0001583	missense	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57746297G>A		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"serine/threonine kinase 13 (aurora/IPL1-like)"	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.630G>A	19.37:g.57746297G>A	ENSP00000302898:p.Met210Ile					AURKC_ENST00000599062.1_Missense_Mutation_p.M207I|AURKC_ENST00000415300.2_Missense_Mutation_p.M191I|AURKC_ENST00000448930.1_Missense_Mutation_p.M176I|AURKC_ENST00000598785.1_Missense_Mutation_p.M176I	p.M210I	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	6	816	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	210			Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	c.630G>A	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956976	0.34565	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.62364	0.03;0.03;0.03	4.09	1.92	0.25849	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.076845	0.85682	N	0.000000	T	0.35189	0.0923	N	0.01631	-0.79	0.51012	D	0.999902	B;B;B	0.28378	0.072;0.157;0.209	B;B;B	0.37267	0.245;0.115;0.16	T	0.26916	-1.0089	10	0.66056	D	0.02	-33.7327	7.4897	0.27454	0.0959:0.1695:0.7346:0.0	.	207;210;191	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	I	191;176;210	ENSP00000407162:M191I;ENSP00000406798:M176I;ENSP00000302898:M210I	ENSP00000302898:M210I	M	+	3	0	AURKC	62438109	1.000000	0.71417	0.660000	0.29694	0.522000	0.34438	5.197000	0.65141	0.663000	0.31027	0.655000	0.94253	ATG		0.507	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		6	19	0	0	0	1	0	6	19					A	57746297	G	A	57746297	3	1	435	1	0	0	0	0	1	0	0	0	1224	1290	45	3	657	3	AURKC	19	57746297	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	105815	57746297	1382686	8507	29432											
AURKC	6795	broad.mit.edu	37	chr19	57746642	57746642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaggtttccactatcaatgCctctgggggcccgggacttg	6	11	13	11	1	2	1	1	1	1	0	3	2	3	2	3	4	1	1	3	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:57746642C>T	ENST00000302804.7	+	7	973	c.787C>T	c.(787-789)Cct>Tct	p.P263S	AURKC_ENST00000598785.1_Missense_Mutation_p.P229S|AURKC_ENST00000415300.2_Missense_Mutation_p.P244S|AURKC_ENST00000448930.1_Missense_Mutation_p.P229S|AURKC_ENST00000599062.1_Missense_Mutation_p.P260S	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACTATCAATGCCTCTGGGGGC	0.527																																						ENST00000302804.7																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25						c.(787-789)Cct>Tct		aurora kinase C							72	76	74					19																	57746642		2203	4300	6503	SO:0001583	missense	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57746642C>T		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"serine/threonine kinase 13 (aurora/IPL1-like)"	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.787C>T	19.37:g.57746642C>T	ENSP00000302898:p.Pro263Ser					AURKC_ENST00000599062.1_Missense_Mutation_p.P260S|AURKC_ENST00000415300.2_Missense_Mutation_p.P244S|AURKC_ENST00000448930.1_Missense_Mutation_p.P229S|AURKC_ENST00000598785.1_Missense_Mutation_p.P229S	p.P263S	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	7	973	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	263			Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	c.787C>T	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.364778	0.01235	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.05996	3.36;3.36;3.36	3.88	0.573	0.17363	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.225743	0.47093	N	0.000244	T	0.01976	0.0062	N	0.03891	-0.335	0.09310	N	1	B;B;B	0.11235	0.004;0.003;0.001	B;B;B	0.10450	0.005;0.004;0.003	T	0.47661	-0.9100	10	0.02654	T	1	-8.747	6.3539	0.21390	0.0:0.5799:0.0:0.4201	.	260;263;244	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	S	244;229;263	ENSP00000407162:P244S;ENSP00000406798:P229S;ENSP00000302898:P263S	ENSP00000302898:P263S	P	+	1	0	AURKC	62438454	0.006000	0.16342	0.003000	0.11579	0.102000	0.19082	0.301000	0.19174	0.230000	0.21059	0.655000	0.94253	CCT		0.527	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		5	20	0	0	0	1	0	5	20					T	57746642	C	T	57746642	3	4	435	1	0	0	0	0	1	0	0	0	1224	739	26	3	818	3	AURKC	19	57746642	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	345	57746642	1382341	8508	29433											
ZNF547	284306	broad.mit.edu	37	chr19	57883175	57883175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtggtttttgaagacgtggCcatatatttctcccaggagg	8	14	12	7	1	1	2	0	1	1	1	2	3	1	3	2	4	0	1	2	4	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:57883175C>T	ENST00000282282.3	+	3	200	c.50C>T	c.(49-51)gCc>gTc	p.A17V	AC003002.4_ENST00000597658.1_Missense_Mutation_p.A17V	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		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)		GAAGACGTGGCCATATATTTC	0.428																																						ENST00000282282.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12						c.(49-51)gCc>gTc		zinc finger protein 547							287	268	275					19																	57883175		2203	4300	6503	SO:0001583	missense	284306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57883175C>T	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"Zinc fingers, C2H2-type", "-"	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.50C>T	19.37:g.57883175C>T	ENSP00000282282:p.Ala17Val					AC003002.4_ENST00000597658.1_Missense_Mutation_p.A17V	p.A17V	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	200	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	17			KRAB.		A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	c.50C>T	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111660	0.56398	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.03301	3.98	2.01	2.01	0.26516	Krueppel-associated box (4);	.	.	.	.	T	0.16257	0.0391	M	0.82517	2.595	0.09310	N	0.999994	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.02313	-1.1178	9	0.62326	D	0.03	.	7.5401	0.27733	0.0:1.0:0.0:0.0	.	17;17	Q8IVP9-2;Q8IVP9	.;ZN547_HUMAN	V	17	ENSP00000282282:A17V	ENSP00000282282:A17V	A	+	2	0	ZNF547	62574987	0.789000	0.28775	0.383000	0.26132	0.984000	0.73092	1.123000	0.31308	1.438000	0.47492	0.561000	0.74099	GCC		0.428	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		73	112	0	0	0	1	0	73	112					T	57883175	C	T	57883175	3	4	435	1	0	0	0	0	1	0	0	0	17976	739	26	3	56	3	ZNF547	19	57883175	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	136533	57883175	1245808	8509	29434											
ZNF548	147694	broad.mit.edu	37	chr19	57910579	57910579	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcacaccggagaaaggccGtatgagtgcagggaatgtgg	11	7	16	7	2	1	2	1	1	0	1	1	4	1	3	2	4	1	3	2	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:57910579G>A	ENST00000366197.5	+	3	1174	c.924G>A	c.(922-924)ccG>ccA	p.P308P	AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Silent_p.P320P|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		GAGAAAGGCCGTATGAGTGCA	0.443																																						ENST00000366197.5																			0				breast(1)	1						c.(922-924)ccG>ccA		zinc finger protein 548							75	78	77					19																	57910579		2198	4299	6497	SO:0001819	synonymous_variant	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910579G>A	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"Zinc fingers, C2H2-type", "-"	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.924G>A	19.37:g.57910579G>A						AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Silent_p.P320P	p.P308P	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1174	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	308					Q96M05	Silent	SNP	ENST00000366197.5	37	c.924G>A	CCDS46209.1																																																																																				0.443	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		22	37	0	0	0	1	0	22	37					A	57910579	G	A	57910579	2	1	435	1	0	0	0	0	0	0	0	1	17977	1132	40	1		1	ZNF548	19	57910579	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27404	57910579	1218404	8510	29435											
ZNF416	55659	broad.mit.edu	37	chr19	58084040	58084040	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcccacactggccacacTcataaggccttgctgtagtg	9	11	8	13	0	1	0	1	0	0	0	2	0	2	0	3	2	1	2	3	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58084040T>G	ENST00000196489.3	-	4	1454	c.1232A>C	c.(1231-1233)gAg>gCg	p.E411A		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTGGCCACACTCATAAGGCCT	0.463																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(1231-1233)gAg>gCg		zinc finger protein 416							107	97	100					19																	58084040		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084040T>G	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"Zinc fingers, C2H2-type", "-"	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1232A>C	19.37:g.58084040T>G	ENSP00000196489:p.Glu411Ala						p.E411A	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	1454	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	411					Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.1232A>C	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	T	12.39	1.923938	0.34002	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.21932	1.98	3.86	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13372	0.0324	N	0.17674	0.51	0.19300	N	0.999974	P	0.38551	0.636	B	0.39876	0.312	T	0.15723	-1.0427	9	0.56958	D	0.05	.	4.4105	0.11431	0.2004:0.0:0.2074:0.5922	.	411	Q9BWM5	ZN416_HUMAN	A	411;370;309	ENSP00000196489:E411A	ENSP00000196489:E411A	E	-	2	0	ZNF416	62775852	0.000000	0.05858	0.985000	0.45067	0.983000	0.72400	-1.733000	0.01850	0.596000	0.29794	0.533000	0.62120	GAG		0.463	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		32	57	0	0	0	1	0	32	57					G	58084040	T	G	58084040	3	3	435	1	0	0	0	0	1	0	0	0	17890	1551	54	5	556	5	ZNF416	19	58084040	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	173461	58084040	1044943	8511	29436											
ZNF530	348327	broad.mit.edu	37	chr19	58117342	58117342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagctctttaaagtggatgGggaccaggcctcatttatga	11	11	12	7	0	2	1	1	1	1	0	2	4	2	3	2	4	1	1	2	4	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58117342G>A	ENST00000332854.6	+	3	669	c.449G>A	c.(448-450)gGg>gAg	p.G150E	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAAGTGGATGGGGACCAGGCC	0.473																																						ENST00000332854.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20						c.(448-450)gGg>gAg		zinc finger protein 530							57	57	57					19																	58117342		2203	4300	6503	SO:0001583	missense	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58117342G>A	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"Zinc fingers, C2H2-type", "-"	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.449G>A	19.37:g.58117342G>A	ENSP00000332861:p.Gly150Glu					ZNF530_ENST00000597864.1_Intron	p.G150E	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	669	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	150					O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	c.449G>A	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	G	0.065	-1.214210	0.01555	.	.	ENSG00000183647	ENST00000332854	T	0.01438	4.89	2.01	-0.234	0.13074	.	.	.	.	.	T	0.00384	0.0012	N	0.00272	-1.73	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.45745	-0.9240	9	0.02654	T	1	.	2.5347	0.04711	0.0:0.1889:0.3063:0.5048	.	150	Q6P9A1	ZN530_HUMAN	E	150	ENSP00000332861:G150E	ENSP00000332861:G150E	G	+	2	0	ZNF530	62809154	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.376000	0.07465	-0.114000	0.11936	-0.578000	0.04140	GGG		0.473	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		6	49	0	0	0	1	0	6	49					A	58117342	G	A	58117342	3	1	435	1	0	0	0	0	1	0	0	0	17968	1232	43	3	459	3	ZNF530	19	58117342	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33302	58117342	1011641	8512	29437											
ZNF134	7693	broad.mit.edu	37	chr19	58131867	58131867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttagcaaagaacctcatcCgtcagagaagccctttacgt	13	9	8	11	2	2	2	2	0	0	2	3	3	3	2	3	0	4	2	3	0	5	3	rs80178068		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58131867C>T	ENST00000396161.5	+	3	690	c.380C>T	c.(379-381)cCg>cTg	p.P127L		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GAACCTCATCCGTCAGAGAAG	0.463																																						ENST00000396161.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(379-381)cCg>cTg		zinc finger protein 134							57	56	56					19																	58131867		1973	4168	6141	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58131867C>T	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"Zinc fingers, C2H2-type"	12918	protein-coding gene	gene with protein product		604076	"zinc finger protein 134 (clone pHZ-15)"			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.380C>T	19.37:g.58131867C>T	ENSP00000379464:p.Pro127Leu						p.P127L	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	690	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	127					Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.380C>T	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	C	2.609	-0.291200	0.05568	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.07444	3.19	3.42	0.0211	0.14127	.	.	.	.	.	T	0.03390	0.0098	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41592	-0.9500	9	0.62326	D	0.03	.	7.6013	0.28077	0.0:0.594:0.0:0.406	.	127	P52741	ZN134_HUMAN	L	194;47;127	ENSP00000379464:P127L	ENSP00000379464:P127L	P	+	2	0	ZNF134	62823679	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.097000	0.15168	-0.044000	0.13491	-0.312000	0.09012	CCG		0.463	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		13	12	0	0	0	1	0	13	12					T	58131867	C	T	58131867	3	4	435	1	0	0	0	0	1	0	0	0	17721	652	23	2	386	2	ZNF134	19	58131867	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14525	58131867	997116	8513	29438											
ZNF134	7693	broad.mit.edu	37	chr19	58132278	58132278	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgccttataagtgcaatgAatgtgggaaatattttagcc	14	13	9	5	0	0	1	0	1	0	0	0	2	0	2	2	1	3	1	2	1	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58132278A>G	ENST00000396161.5	+	3	1101	c.791A>G	c.(790-792)gAa>gGa	p.E264G		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AAGTGCAATGAATGTGGGAAA	0.413																																						ENST00000396161.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(790-792)gAa>gGa		zinc finger protein 134							73	79	77					19																	58132278		2197	4298	6495	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58132278A>G	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"Zinc fingers, C2H2-type"	12918	protein-coding gene	gene with protein product		604076	"zinc finger protein 134 (clone pHZ-15)"			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.791A>G	19.37:g.58132278A>G	ENSP00000379464:p.Glu264Gly						p.E264G	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1101	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	264					Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.791A>G	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732250	0.48939	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.33865	1.39	3.99	3.99	0.46301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47248	0.1435	L	0.33668	1.02	0.09310	N	1	D	0.67145	0.996	D	0.69479	0.964	T	0.31475	-0.9942	9	0.72032	D	0.01	.	12.2628	0.54660	1.0:0.0:0.0:0.0	.	264	P52741	ZN134_HUMAN	G	331;184;264	ENSP00000379464:E264G	ENSP00000379464:E264G	E	+	2	0	ZNF134	62824090	0.000000	0.05858	0.592000	0.28758	0.980000	0.70556	1.378000	0.34328	1.798000	0.52647	0.459000	0.35465	GAA		0.413	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		16	68	0	0	0	1	0	16	68					G	58132278	A	G	58132278	3	3	435	1	0	0	0	0	1	0	0	0	17721	246	9	4	797	4	ZNF134	19	58132278	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	411	58132278	996705	8514	29439											
ZNF211	10520	broad.mit.edu	37	chr19	58152510	58152510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaataacagtaacaagtgtgCggtggccttttacagtggaa	14	10	11	6	1	0	0	0	0	0	0	0	1	0	1	1	3	4	1	1	3	6	4	rs191070229	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58152510C>T	ENST00000347302.3	+	3	835	c.656C>T	c.(655-657)gCg>gTg	p.A219V	ZNF211_ENST00000544273.1_Missense_Mutation_p.A231V|ZNF211_ENST00000240731.4_Missense_Mutation_p.A232V|ZNF211_ENST00000391703.3_Missense_Mutation_p.A158V|ZNF211_ENST00000299871.5_Missense_Mutation_p.A284V|ZNF211_ENST00000254182.7_Missense_Mutation_p.A210V|ZNF211_ENST00000541801.1_Missense_Mutation_p.A210V|ZNF211_ENST00000420680.1_Missense_Mutation_p.A223V	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A232V(1)		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)		AACAAGTGTGCGGTGGCCTTT	0.473													C|||	2	0.000399361	0	0	5008	,	,		21546	0		0.002	False		,,,				2504	0					ENST00000544273.1																			1	Substitution - Missense(1)	p.A232V(1)	lung(1)	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						c.(691-693)gCg>gTg		zinc finger protein 211							60	61	61					19																	58152510		2203	4300	6503	SO:0001583	missense	0					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152510C>T	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"Zinc fingers, C2H2-type", "-"	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.656C>T	19.37:g.58152510C>T	ENSP00000339562:p.Ala219Val					ZNF211_ENST00000299871.5_Missense_Mutation_p.A284V|ZNF211_ENST00000391703.3_Missense_Mutation_p.A158V|ZNF211_ENST00000541801.1_Missense_Mutation_p.A210V|ZNF211_ENST00000347302.3_Missense_Mutation_p.A219V|ZNF211_ENST00000254182.7_Missense_Mutation_p.A210V|ZNF211_ENST00000240731.4_Missense_Mutation_p.A232V|ZNF211_ENST00000420680.1_Missense_Mutation_p.A223V	p.A231V			Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1019	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	219					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.692C>T	CCDS12957.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	0.018	-1.478997	0.01035	.	.	ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	T;T;T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42	3.24	-6.49	0.01890	.	.	.	.	.	T	0.05686	0.0149	N	0.12746	0.255	0.09310	N	1	B;B;B;B;B;B	0.28178	0.009;0.004;0.001;0.202;0.002;0.002	B;B;B;B;B;B	0.15052	0.002;0.001;0.002;0.012;0.001;0.001	T	0.22556	-1.0213	9	0.37606	T	0.19	.	0.9109	0.01295	0.2927:0.1912:0.3258:0.1903	.	223;231;284;210;219;232	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.;.;.;.;ZN211_HUMAN;.	V	223;219;210;158;210;284;231;232	ENSP00000399193:A223V;ENSP00000339562:A219V;ENSP00000254182:A210V;ENSP00000375584:A158V;ENSP00000442601:A210V;ENSP00000299871:A284V;ENSP00000441386:A231V;ENSP00000240731:A232V	ENSP00000240731:A232V	A	+	2	0	ZNF211	62844322	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-2.308000	0.01131	-2.446000	0.00546	-1.221000	0.01599	GCG		0.473	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			12	49	0	0	0	1	0	12	49					T	58152510	C	T	58152510	3	4	435	1	0	0	0	0	1	0	0	0	17764	768	27	1	709	1	ZNF211	19	58152510	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20232	58152510	976473	8515	29440											
ZNF671	79891	broad.mit.edu	37	chr19	58232531	58232531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcataaggcctttctccaGtgtggattctctgatgccga	8	13	9	11	1	3	1	1	1	2	0	5	3	3	2	3	2	1	0	3	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58232531G>A	ENST00000317398.6	-	4	1018	c.923C>T	c.(922-924)aCt>aTt	p.T308I	ZNF671_ENST00000335820.3_Missense_Mutation_p.T210I|ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCTTTCTCCAGTGTGGATTCT	0.483																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(922-924)aCt>aTt		zinc finger protein 671							96	91	92					19																	58232531		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232531G>A		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"Zinc fingers, C2H2-type", "-"	26279	protein-coding gene	gene with protein product	"hypothetical protein FLJ23506"					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.923C>T	19.37:g.58232531G>A	ENSP00000321848:p.Thr308Ile					AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.T210I	p.T308I	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1018	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	308					A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.923C>T	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825859	0.50739	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.25749	1.78;1.78	1.94	0.786	0.18590	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40222	0.1108	M	0.80422	2.495	0.22156	N	0.999324	D	0.58620	0.983	P	0.53593	0.73	T	0.21724	-1.0237	9	0.72032	D	0.01	.	7.5952	0.28044	0.0:0.529:0.471:0.0	.	308	Q8TAW3	ZN671_HUMAN	I	308;210	ENSP00000321848:T308I;ENSP00000338670:T210I	ENSP00000321848:T308I	T	-	2	0	ZNF671	62924343	0.054000	0.20591	0.291000	0.24904	0.979000	0.70002	0.581000	0.23819	0.330000	0.23485	0.467000	0.42956	ACT		0.483	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		38	54	0	0	0	1	0	38	54					A	58232531	G	A	58232531	3	1	435	1	0	0	0	0	1	0	0	0	18075	1029	36	3	685	3	ZNF671	19	58232531	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	80021	58232531	896452	8516	29441											
ZNF587	84914	broad.mit.edu	37	chr19	58371214	58371214	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatttggcaataagcacagCgtgactatacatcagaggat	14	11	9	7	1	1	2	1	1	0	1	1	3	1	3	0	2	3	2	0	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58371214C>T	ENST00000339656.5	+	3	1616	c.1434C>T	c.(1432-1434)agC>agT	p.S478S	ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000419854.1_Silent_p.S435S|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Silent_p.S477S	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S478R(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(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;0.0264)		ATAAGCACAGCGTGACTATAC	0.423																																					Pancreas(59;641 1233 1885 20055 50741)	ENST00000339656.5																			1	Substitution - Missense(1)	p.S478R(1)	lung(1)	central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15						c.(1432-1434)agC>agT		zinc finger protein 587							152	146	148					19																	58371214		2203	4300	6503	SO:0001819	synonymous_variant	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58371214C>T	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"Zinc fingers, C2H2-type", "-"	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1434C>T	19.37:g.58371214C>T						ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Silent_p.S477S|ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000419854.1_Silent_p.S435S	p.S478S	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	3	1616	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	478					A0AV72|G3V0H5|Q6ZMK8	Silent	SNP	ENST00000339656.5	37	c.1434C>T	CCDS12964.1																																																																																				0.423	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		54	92	0	0	0	1	0	54	92					T	58371214	C	T	58371214	2	4	435	1	0	0	0	0	0	0	0	1	18017	767	27	1		1	ZNF587	19	58371214	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	138683	58371214	757769	8517	29442											
ZNF814	730051	broad.mit.edu	37	chr19	58384980	58384980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatgaacgcgctgatggCtcctaaggtgcccgattgaa	10	9	12	10	3	0	3	0	3	0	0	1	4	1	3	2	2	2	3	2	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58384980C>T	ENST00000435989.2	-	3	2012	c.1778G>A	c.(1777-1779)aGc>aAc	p.S593N	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	593					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						GCGCTGATGGCTCCTAAGGTG	0.478																																						ENST00000435989.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1777-1779)aGc>aAc		zinc finger protein 814							95	77	83					19																	58384980		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58384980C>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1778G>A	19.37:g.58384980C>T	ENSP00000410545:p.Ser593Asn					ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	p.S593N	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	2012	-			593					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1778G>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	4.196	0.035084	0.08148	.	.	ENSG00000204514	ENST00000435989	T	0.07327	3.2	2.02	-2.78	0.05859	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	L	0.35593	1.075	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.45963	-0.9225	9	0.17832	T	0.49	.	3.2781	0.06906	0.4804:0.1452:0.0:0.3744	.	593	B7Z6K7	ZN814_HUMAN	N	593	ENSP00000410545:S593N	ENSP00000410545:S593N	S	-	2	0	ZNF814	63076792	0.000000	0.05858	0.001000	0.08648	0.211000	0.24417	-1.310000	0.02725	-0.345000	0.08325	0.305000	0.20034	AGC		0.478	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		14	15	0	0	0	1	0	14	15					T	58384980	C	T	58384980	3	4	435	1	0	0	0	0	1	0	0	0	18173	797	28	3	793	3	ZNF814	19	58384980	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13766	58384980	744003	8518	29443											
ZNF418	147686	broad.mit.edu	37	chr19	58437963	58437963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctccagtatgaactctcCgatgtcgaaggagggaacag	11	10	11	9	2	2	1	0	1	2	0	5	5	2	3	2	2	2	1	2	2	4	2	rs200332982		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58437963C>T	ENST00000396147.1	-	4	1877	c.1586G>A	c.(1585-1587)cGg>cAg	p.R529Q	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.R444Q|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000425570.3_Missense_Mutation_p.R550Q|ZNF418_ENST00000595830.1_Missense_Mutation_p.R529Q	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		ATGAACTCTCCGATGTCGAAG	0.453													C|||	1	0.000199681	8e-04	0	5008	,	,		23252	0		0	False		,,,				2504	0					ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(1585-1587)cGg>cAg		zinc finger protein 418		C	GLN/ARG	2,4378		0,2,2188	91	94	93		1586	-1.5	0	19		93	0,8592		0,0,4296	yes	missense	ZNF418	NM_133460.1	43	0,2,6484	TT,TC,CC		0.0,0.0457,0.0154	probably-damaging	529/677	58437963	2,12970	2190	4296	6486	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58437963C>T	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1586G>A	19.37:g.58437963C>T	ENSP00000379451:p.Arg529Gln					ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.R444Q|ZNF418_ENST00000425570.3_Missense_Mutation_p.R550Q|ZNF418_ENST00000595830.1_Missense_Mutation_p.R529Q	p.R529Q	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	1877	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	529					Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.1586G>A	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	4.703	0.130733	0.08981	4.57E-4	0.0	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.17691	2.26;2.26	2.33	-1.47	0.08772	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06050	0.0157	N	0.11201	0.11	0.09310	N	1	B	0.22276	0.067	B	0.09377	0.004	T	0.40627	-0.9553	9	0.02654	T	1	.	6.9817	0.24706	0.0:0.2574:0.0:0.7426	.	529	Q8TF45	ZN418_HUMAN	Q	529;550;495	ENSP00000379451:R529Q;ENSP00000407039:R550Q	ENSP00000379451:R529Q	R	-	2	0	ZNF418	63129775	0.007000	0.16637	0.001000	0.08648	0.231000	0.25187	0.463000	0.21972	-0.240000	0.09696	0.313000	0.20887	CGG		0.453	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		25	83	0	0	0	1	0	25	83					T	58437963	C	T	58437963	3	4	435	1	0	0	0	0	1	0	0	0	17892	652	23	2	448	2	ZNF418	19	58437963	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	52983	58437963	691020	8519	29444											
ZNF418	147686	broad.mit.edu	37	chr19	58438297	58438297	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttctccagtgtgacctcGctgatggttcctaaggtgtc	5	15	10	11	1	2	2	0	2	2	0	6	2	3	2	3	2	0	2	3	2	1	3	rs572586331		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58438297G>A	ENST00000396147.1	-	4	1543	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Nonsense_Mutation_p.R333*|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000425570.3_Nonsense_Mutation_p.R439*|ZNF418_ENST00000595830.1_Nonsense_Mutation_p.R418*	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GTGTGACCTCGCTGATGGTTC	0.468																																						ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(1252-1254)Cga>Tga		zinc finger protein 418							158	162	161					19																	58438297		2203	4300	6503	SO:0001587	stop_gained	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58438297G>A	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1252C>T	19.37:g.58438297G>A	ENSP00000379451:p.Arg418*					ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Nonsense_Mutation_p.R333*|ZNF418_ENST00000425570.3_Nonsense_Mutation_p.R439*|ZNF418_ENST00000595830.1_Nonsense_Mutation_p.R418*	p.R418*	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	1543	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	418					Q2M1S2|Q670L5|Q96N18	Nonsense_Mutation	SNP	ENST00000396147.1	37	c.1252C>T	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	42	9.345644	0.99143	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	.	.	.	2.36	-0.401	0.12407	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1129	0.30924	0.0:0.0:0.4021:0.5979	.	.	.	.	X	418;439;384	.	ENSP00000379451:R418X	R	-	1	2	ZNF418	63130109	0.000000	0.05858	0.011000	0.14972	0.872000	0.50106	-1.812000	0.01726	-0.261000	0.09405	-0.898000	0.02899	CGA		0.468	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		47	95	0	0	0	1	0	47	95					A	58438297	G	A	58438297	4	1	435	1	0	0	0	0	0	1	0	0	17892	1095	38	1	782	1	ZNF418	19	58438297	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	334	58438297	690686	8520	29445											
ZNF256	10172	broad.mit.edu	37	chr19	58454003	58454003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgcctcctcatcccctGctccagaaccacctgaaaga	11	7	7	16	0	1	3	1	1	0	2	4	3	4	3	7	1	3	1	7	1	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58454003G>A	ENST00000282308.3	-	3	369	c.173C>T	c.(172-174)gCa>gTa	p.A58V	ZNF256_ENST00000598928.1_Nonsense_Mutation_p.Q16*	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	58	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		CTCATCCCCTGCTCCAGAACC	0.527																																					NSCLC(55;1313 1552 8040 11996)	ENST00000598928.1																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(46-48)Cag>Tag		zinc finger protein 256							79	80	80					19																	58454003		2201	4292	6493	SO:0001583	missense	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58454003G>A	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"Zinc fingers, C2H2-type", "-"	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.173C>T	19.37:g.58454003G>A	ENSP00000282308:p.Ala58Val					ZNF256_ENST00000282308.3_Missense_Mutation_p.A58V	p.Q16*			Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	2	246	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	0			KRAB.		B2RA92|Q53Y85|Q9BV71	Nonsense_Mutation	SNP	ENST00000282308.3	37	c.46C>T	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	3.969	-0.008825	0.07727	.	.	ENSG00000152454	ENST00000282308	T	0.07114	3.22	3.04	-0.431	0.12295	Krueppel-associated box (3);	.	.	.	.	T	0.03305	0.0096	N	0.04320	-0.23	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45571	-0.9252	9	0.26408	T	0.33	.	5.2845	0.15694	0.4481:0.0:0.5519:0.0	.	58	Q9Y2P7	ZN256_HUMAN	V	58	ENSP00000282308:A58V	ENSP00000282308:A58V	A	-	2	0	ZNF256	63145815	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	-2.065000	0.01386	-0.001000	0.14495	0.467000	0.42956	GCA		0.527	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			28	37	0	0	0	1	0	28	37					A	58454003	G	A	58454003	3	1	435	1	0	0	0	0	1	0	0	0	17796	1319	46	3	1714	3	ZNF256	19	58454003	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15706	58454003	674980	8521	29446											
ZSCAN22	342945	broad.mit.edu	37	chr19	58846467	58846467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggagcagttcctgggtgCgctgcccccagagatccaag	7	7	14	13	1	0	1	0	0	0	1	2	3	2	2	4	2	3	4	4	2	1	1	rs375568613		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58846467C>T	ENST00000329665.4	+	2	446	c.299C>T	c.(298-300)gCg>gTg	p.A100V		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	100	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TTCCTGGGTGCGCTGCCCCCA	0.652																																						ENST00000329665.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.(298-300)gCg>gTg		zinc finger and SCAN domain containing 22		C	VAL/ALA	0,4406		0,0,2203	33	35	34		299	-1.6	0	19		34	1,8599		0,1,4299	no	missense	ZSCAN22	NM_181846.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	100/492	58846467	1,13005	2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58846467C>T	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"-", "Zinc fingers, C2H2-type"	4929	protein-coding gene	gene with protein product	"oncogene HKR2"	165260	"zinc finger protein 50", "GLI-Kruppel family member HKR2"	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.299C>T	19.37:g.58846467C>T	ENSP00000332433:p.Ala100Val						p.A100V	NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	2	446	+		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)	100			SCAN box.		Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.299C>T	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	C	8.236	0.805715	0.16467	0.0	1.16E-4	ENSG00000182318	ENST00000329665	T	0.03801	3.8	4.34	-1.61	0.08399	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.02494	0.0076	N	0.04880	-0.145	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.44019	-0.9355	9	0.52906	T	0.07	.	7.5446	0.27759	0.0:0.4065:0.0:0.5935	.	100	P10073	ZSC22_HUMAN	V	100	ENSP00000332433:A100V	ENSP00000332433:A100V	A	+	2	0	ZSCAN22	63538279	0.000000	0.05858	0.000000	0.03702	0.430000	0.31655	-2.088000	0.01359	-0.066000	0.12998	-0.137000	0.14449	GCG		0.652	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		14	18	0	0	0	1	0	14	18					T	58846467	C	T	58846467	3	4	435	1	0	0	0	0	1	0	0	0	18231	768	27	1	301	1	ZSCAN22	19	58846467	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	392464	58846467	282516	8522	29447											
ZNF497	162968	broad.mit.edu	37	chr19	58867511	58867511	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcgtcctcgggtcagggCgcagcgcggcccccgtgccg	3	4	18	16	7	1	0	1	0	0	0	3	0	2	0	4	4	2	1	4	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58867511C>T	ENST00000311044.3	-	3	1679	c.1491G>A	c.(1489-1491)gcG>gcA	p.A497A	A1BG-AS1_ENST00000600379.1_RNA|ZNF497_ENST00000425453.3_Silent_p.A497A|A1BG_ENST00000263100.3_5'Flank|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CGGGTCAGGGCGCAGCGCGGC	0.697																																						ENST00000311044.3																			0				central_nervous_system(2)|lung(3)|skin(2)	7						c.(1489-1491)gcG>gcA		zinc finger protein 497							15	15	15					19																	58867511		2146	4211	6357	SO:0001819	synonymous_variant	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58867511C>T	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"Zinc fingers, C2H2-type"	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.1491G>A	19.37:g.58867511C>T						CTD-2619J13.8_ENST00000599109.1_RNA|ZNF497_ENST00000425453.3_Silent_p.A497A	p.A497A	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	3	1679	-		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)	497					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Silent	SNP	ENST00000311044.3	37	c.1491G>A	CCDS12977.1																																																																																				0.697	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		7	11	0	0	0	1	0	7	11					T	58867511	C	T	58867511	2	4	435	1	0	0	0	0	0	0	0	1	17943	755	27	1		1	ZNF497	19	58867511	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21044	58867511	261472	8523	29448											
RPS5	6193	broad.mit.edu	37	chr19	58904796	58904796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactccacacgcattgggcGcgccgggactgtgagacgac	8	5	15	13	5	0	1	0	1	0	1	1	5	1	3	2	3	0	1	2	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58904796G>A	ENST00000596046.1	+	3	1238	c.389G>A	c.(388-390)cGc>cAc	p.R130H	RPS5_ENST00000601521.1_Missense_Mutation_p.R130H|RPS5_ENST00000196551.3_Missense_Mutation_p.R130H|AC012313.1_ENST00000601382.1_5'Flank|RPS5_ENST00000598098.1_Missense_Mutation_p.R60H|RPS5_ENST00000598495.1_Missense_Mutation_p.R151H			P46782	RS5_HUMAN	ribosomal protein S5	130					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		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)		CGCATTGGGCGCGCCGGGACT	0.622																																						ENST00000596046.1																			0				cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(388-390)cGc>cAc		ribosomal protein S5							79	68	72					19																	58904796		2203	4300	6503	SO:0001583	missense	6193				endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome	g.chr19:58904796G>A	U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"S ribosomal proteins"	10426	protein-coding gene	gene with protein product	"40S ribosomal protein S5"	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.389G>A	19.37:g.58904796G>A	ENSP00000472985:p.Arg130His					RPS5_ENST00000598098.1_Missense_Mutation_p.R60H|RPS5_ENST00000598495.1_Missense_Mutation_p.R151H|RPS5_ENST00000601521.1_Missense_Mutation_p.R130H|RPS5_ENST00000196551.3_Missense_Mutation_p.R130H	p.R130H			P46782	RS5_HUMAN		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)	3	1238	+		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)	130					B2R4T2|Q96BN0	Missense_Mutation	SNP	ENST00000596046.1	37	c.389G>A	CCDS12978.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363841	0.61513	.	.	ENSG00000083845	ENST00000196551	.	.	.	4.78	4.78	0.61160	Ribosomal protein S7 domain (3);	0.131112	0.50627	D	0.000106	D	0.84047	0.5386	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87454	0.2403	9	0.87932	D	0	-3.9012	15.6905	0.77446	0.0:0.0:1.0:0.0	.	130	P46782	RS5_HUMAN	H	130	.	ENSP00000196551:R130H	R	+	2	0	RPS5	63596608	1.000000	0.71417	0.986000	0.45419	0.630000	0.37929	8.383000	0.90157	2.389000	0.81357	0.655000	0.94253	CGC		0.622	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467016.1	NM_001009		13	37	0	0	0	1	0	13	37					A	58904796	G	A	58904796	3	1	435	1	0	0	0	0	1	0	0	0	13648	1087	38	1	399	1	RPS5	19	58904796	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	37285	58904796	224187	8524	29449											
ZNF324	25799	broad.mit.edu	37	chr19	58981203	58981203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaccacctacaggaggcGcaaccctggtgagagggagc	11	3	15	12	1	0	1	0	1	0	1	0	5	0	4	3	5	3	1	3	5	2	1	rs543699538		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58981203G>A	ENST00000536459.2	+	3	939	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ZNF324_ENST00000196482.3_Missense_Mutation_p.R77H|ZNF324_ENST00000535298.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	77					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TACAGGAGGCGCAACCCTGGT	0.622																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(229-231)cGc>cAc		zinc finger protein 324							41	29	33					19																	58981203		2202	4299	6501	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58981203G>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"Zinc fingers, C2H2-type", "-"	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.230G>A	19.37:g.58981203G>A	ENSP00000444812:p.Arg77His					ZNF324_ENST00000196482.3_Missense_Mutation_p.R77H	p.R77H			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	939	+		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)	77					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.230G>A	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393948	0.42410	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459	T;T	0.05786	3.39;3.39	4.68	-6.05	0.02172	.	1.429250	0.04773	N	0.428426	T	0.02380	0.0073	N	0.19112	0.55	0.09310	N	1	P	0.46277	0.875	B	0.32289	0.143	T	0.45556	-0.9253	10	0.30854	T	0.27	.	0.8609	0.01193	0.3488:0.1872:0.2844:0.1797	.	77	O75467	Z324A_HUMAN	H	77	ENSP00000196482:R77H;ENSP00000444812:R77H	ENSP00000196482:R77H	R	+	2	0	ZNF324	63673015	0.000000	0.05858	0.000000	0.03702	0.236000	0.25371	-0.390000	0.07332	-0.414000	0.07495	-0.291000	0.09656	CGC		0.622	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		3	2	0	0	0	1	0	3	2					A	58981203	G	A	58981203	3	1	435	1	0	0	0	0	1	0	0	0	17841	1087	38	1	236	1	ZNF324	19	58981203	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	76407	58981203	147780	8525	29450											
ZNF324	25799	broad.mit.edu	37	chr19	58982235	58982235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaaagcctgcagagacaaCggggtgcctccccatctcgg	11	6	11	13	2	1	1	0	0	1	1	3	2	2	1	4	3	4	1	4	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58982235C>T	ENST00000536459.2	+	4	1085	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	ZNF324_ENST00000196482.3_Missense_Mutation_p.R126W|ZNF324_ENST00000535298.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAGAGACAACGGGGTGCCTC	0.602																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(376-378)Cgg>Tgg		zinc finger protein 324							92	99	97					19																	58982235		2203	4300	6503	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982235C>T	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"Zinc fingers, C2H2-type", "-"	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.376C>T	19.37:g.58982235C>T	ENSP00000444812:p.Arg126Trp					ZNF324_ENST00000196482.3_Missense_Mutation_p.R126W	p.R126W			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1085	+		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)	126					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.376C>T	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404906	0.42613	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101	T;T	0.06068	3.35;3.35	3.21	-0.204	0.13200	.	1.832110	0.03211	N	0.176143	T	0.08088	0.0202	L	0.29908	0.895	0.09310	N	1	D	0.62365	0.991	P	0.47528	0.549	T	0.34725	-0.9817	10	0.45353	T	0.12	.	7.2497	0.26142	0.0:0.6682:0.0:0.3318	.	126	O75467	Z324A_HUMAN	W	126;126;126;116	ENSP00000196482:R126W;ENSP00000444812:R126W	ENSP00000196482:R126W	R	+	1	2	ZNF324	63674047	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	0.098000	0.15189	0.054000	0.16065	-0.391000	0.06502	CGG		0.602	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		7	66	0	0	0	1	0	7	66					T	58982235	C	T	58982235	3	4	435	1	0	0	0	0	1	0	0	0	17841	527	19	1	386	1	ZNF324	19	58982235	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1032	58982235	146748	8526	29451											
ZNF324	25799	broad.mit.edu	37	chr19	58983156	58983156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcccacagtgcggccgcGcctttagccacagctccaac	7	6	9	19	3	0	0	0	0	0	0	1	0	1	0	6	1	5	1	6	1	2	2	rs374316385		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58983156G>A	ENST00000536459.2	+	4	2006	c.1297G>A	c.(1297-1299)Gcc>Acc	p.A433T	ZNF324_ENST00000196482.3_Missense_Mutation_p.A433T|ZNF324_ENST00000535298.1_Missense_Mutation_p.A210T|ZNF446_ENST00000596341.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GTGCGGCCGCGCCTTTAGCCA	0.687																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(1297-1299)Gcc>Acc		zinc finger protein 324		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	40	41	41		1297	3.8	1	19		41	0,8598		0,0,4299	no	missense	ZNF324	NM_014347.2	58	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	433/554	58983156	1,13003	2203	4299	6502	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58983156G>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"Zinc fingers, C2H2-type", "-"	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1297G>A	19.37:g.58983156G>A	ENSP00000444812:p.Ala433Thr					ZNF324_ENST00000535298.1_Missense_Mutation_p.A210T|ZNF324_ENST00000196482.3_Missense_Mutation_p.A433T	p.A433T			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	2006	+		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)	433					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.1297G>A	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.594091	0.46214	2.27E-4	0.0	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.16897	2.31;2.31;2.56	3.84	3.84	0.44239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41712	D	0.000837	T	0.13713	0.0332	N	0.13235	0.315	0.30207	N	0.798127	P	0.49185	0.92	P	0.49829	0.623	T	0.01805	-1.1270	10	0.45353	T	0.12	.	9.0291	0.36247	0.0:0.0:0.7802:0.2197	.	433	O75467	Z324A_HUMAN	T	433;433;423;210	ENSP00000196482:A433T;ENSP00000444812:A433T;ENSP00000439588:A210T	ENSP00000196482:A433T	A	+	1	0	ZNF324	63674968	0.000000	0.05858	0.994000	0.49952	0.358000	0.29455	-0.464000	0.06688	2.433000	0.82419	0.400000	0.26472	GCC		0.687	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		22	32	0	0	0	1	0	22	32					A	58983156	G	A	58983156	3	1	435	1	0	0	0	0	1	0	0	0	17841	1087	38	1	1307	1	ZNF324	19	58983156	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	921	58983156	145827	8527	29452											
SLC27A5	10998	broad.mit.edu	37	chr19	59012676	59012676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaatgttacacaagtaccGcaggagctcgcccacataca	13	6	10	12	2	0	0	0	0	0	0	1	2	0	2	2	2	4	4	2	2	5	3	rs371423777		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:59012676G>A	ENST00000263093.2	-	4	1268	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000599700.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.R303W	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	387					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CACAAGTACCGCAGGAGCTCG	0.522																																						ENST00000263093.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1159-1161)Cgg>Tgg		solute carrier family 27 (fatty acid transporter), member 5		G	TRP/ARG	0,4406		0,0,2203	127	131	129		1159	3.9	1	19		129	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC27A5	NM_012254.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	387/691	59012676	1,13005	2203	4300	6503	SO:0001583	missense	10998				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	g.chr19:59012676G>A	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1159C>T	19.37:g.59012676G>A	ENSP00000263093:p.Arg387Trp					SLC27A5_ENST00000601355.1_Missense_Mutation_p.R303W	p.R387W	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	4	1268	-		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)	387					B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1159C>T	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943916	0.73672	0.0	1.16E-4	ENSG00000083807	ENST00000263093	T	0.48201	0.82	4.9	3.86	0.44501	AMP-dependent synthetase/ligase (1);	0.135756	0.49305	D	0.000150	T	0.76983	0.4064	H	0.97732	4.065	0.37857	D	0.92958	D	0.89917	1.0	D	0.97110	1.0	D	0.83643	0.0151	10	0.87932	D	0	-32.5211	9.5172	0.39113	0.0992:0.0:0.9008:0.0	.	387	Q9Y2P5	S27A5_HUMAN	W	387	ENSP00000263093:R387W	ENSP00000263093:R387W	R	-	1	2	SLC27A5	63704488	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.569000	0.53827	1.204000	0.43247	0.563000	0.77884	CGG		0.522	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		39	81	0	0	0	1	0	39	81					A	59012676	G	A	59012676	3	1	435	1	0	0	0	0	1	0	0	0	14529	1086	38	1	941	1	SLC27A5	19	59012676	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29520	59012676	116307	8528	29453											
RBCK1	10616	broad.mit.edu	37	chr20	409724	409724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggtcaccaagggcccaCgctggggccctggggtgagt	5	6	18	12	1	1	1	1	1	0	0	1	1	1	1	3	6	0	2	3	6	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:409724C>T	ENST00000356286.5	+	11	2143	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C	RBCK1_ENST00000353660.3_Missense_Mutation_p.R438C|RBCK1_ENST00000382181.2_Missense_Mutation_p.R310C	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	480					negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CAAGGGCCCACGCTGGGGCCC	0.637																																						ENST00000356286.5																			0				kidney(1)|lung(4)	5						c.(1438-1440)Cgc>Tgc		RanBP-type and C3HC4-type zinc finger containing 1							35	39	37					20																	409724		2203	4300	6503	SO:0001583	missense	10616				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	g.chr20:409724C>T	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"RING-type (C3HC4) zinc fingers", "Zinc fingers, RAN-binding domain containing"	15864	protein-coding gene	gene with protein product	"heme-oxidized IRP2 ubiquitin ligase 1"	610924	"chromosome 20 open reading frame 18"	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.1438C>T	20.37:g.409724C>T	ENSP00000348632:p.Arg480Cys					RBCK1_ENST00000382181.2_Missense_Mutation_p.R310C|RBCK1_ENST00000353660.3_Missense_Mutation_p.R438C	p.R480C	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN			11	2143	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	480					O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	c.1438C>T	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018491	0.93404	.	.	ENSG00000125826	ENST00000356286;ENST00000353660;ENST00000382181	T;T;T	0.63744	-0.06;-0.06;-0.06	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.80649	0.4663	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81052	-0.1107	10	0.40728	T	0.16	-5.8773	15.9126	0.79482	0.0:1.0:0.0:0.0	.	310;438;480	A6PVK0;Q9BYM8-3;Q9BYM8	.;.;HOIL1_HUMAN	C	480;438;310	ENSP00000348632:R480C;ENSP00000254960:R438C;ENSP00000371616:R310C	ENSP00000254960:R438C	R	+	1	0	RBCK1	357724	0.999000	0.42202	0.966000	0.40874	0.992000	0.81027	4.356000	0.59430	2.624000	0.88883	0.655000	0.94253	CGC		0.637	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		18	14	0	0	0	1	0	18	14					T	409724	C	T	409724	3	4	435	1	0	0	0	0	1	0	0	0	13107	536	19	1	1499	1	RBCK1	20	409724	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08		409724	62615796	8529	29454											
ANGPT4	51378	broad.mit.edu	37	chr20	896759	896759	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctggactacaagtgtctcGcagcccctatccgcctcctg	6	10	9	16	2	1	0	0	0	1	0	4	1	3	1	5	1	3	2	5	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:896759G>A	ENST00000381922.3	-	1	201	c.99C>T	c.(97-99)tgC>tgT	p.C33C	ANGPT4_ENST00000546022.1_Silent_p.C33C	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	33					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CAAGTGTCTCGCAGCCCCTAT	0.612																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(97-99)tgC>tgT		angiopoietin 4							85	82	83					20																	896759		2203	4300	6503	SO:0001819	synonymous_variant	51378				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	g.chr20:896759G>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.99C>T	20.37:g.896759G>A						ANGPT4_ENST00000546022.1_Silent_p.C33C	p.C33C	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			1	201	-			33					B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	c.99C>T	CCDS13009.1																																																																																				0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		18	23	0	0	0	1	0	18	23					A	896759	G	A	896759	2	1	435	1	0	0	0	0	0	0	0	1	612	1079	38	1		1	ANGPT4	20	896759	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	487035	896759	62128761	8530	29455											
NSFL1C	55968	broad.mit.edu	37	chr20	1426346	1426346	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttctgcaccagcctcccGccgtctgcaagccgaatttg	8	10	8	15	3	2	0	0	0	2	0	3	1	3	0	5	0	4	2	5	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:1426346G>A	ENST00000216879.4	-	8	1782	c.915C>T	c.(913-915)ggC>ggT	p.G305G	NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Silent_p.G307G|NSFL1C_ENST00000381658.4_Silent_p.G194G|NSFL1C_ENST00000353088.2_Silent_p.G274G|NSFL1C_ENST00000350991.4_Silent_p.G307G	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	305	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CCAGCCTCCCGCCGTCTGCAA	0.517																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(913-915)ggC>ggT		NSFL1 (p97) cofactor (p47)							165	159	161					20																	1426346		2203	4300	6503	SO:0001819	synonymous_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1426346G>A	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"UBX domain containing"	15912	protein-coding gene	gene with protein product	"SHP1 homolog (S. cerevisiae)", "UBX domain protein 2C"	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.915C>T	20.37:g.1426346G>A						NSFL1C_ENST00000350991.4_Silent_p.G307G|NSFL1C_ENST00000381658.4_Silent_p.G194G|NSFL1C_ENST00000353088.2_Silent_p.G274G|NSFL1C_ENST00000476071.1_Silent_p.G307G|NSFL1C_ENST00000461211.1_5'UTR	p.G305G	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			8	1782	-			305			UBX.		A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	37	c.915C>T	CCDS13015.1																																																																																				0.517	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		101	37	0	0	0	1	0	101	37					A	1426346	G	A	1426346	2	1	435	1	0	0	0	0	0	0	0	1	10672	1074	38	1		1	NSFL1C	20	1426346	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	529587	1426346	61599174	8531	29456											
TGM6	343641	broad.mit.edu	37	chr20	2397994	2397994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctgtctctggcgtgacGacctcctggagcctgccacc	4	9	12	16	3	1	1	0	1	1	0	4	3	2	2	5	2	2	1	5	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:2397994G>T	ENST00000202625.2	+	10	1514	c.1453G>T	c.(1453-1455)Gac>Tac	p.D485Y	TGM6_ENST00000381423.1_Missense_Mutation_p.D485Y	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	485					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CTGGCGTGACGACCTCCTGGA	0.637																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(1453-1455)Gac>Tac		transglutaminase 6	L-Glutamine(DB00130)						45	38	41					20																	2397994		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2397994G>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1453G>T	20.37:g.2397994G>T	ENSP00000202625:p.Asp485Tyr					TGM6_ENST00000381423.1_Missense_Mutation_p.D485Y	p.D485Y	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			10	1514	+			485					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1453G>T	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687710	0.29962	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.81163	-1.31;-1.46	4.54	3.59	0.41128	.	0.714197	0.13531	N	0.380946	T	0.81837	0.4907	L	0.44542	1.39	0.31031	N	0.717418	D;D	0.63046	0.992;0.982	P;P	0.58172	0.834;0.612	T	0.78615	-0.2135	10	0.59425	D	0.04	-28.4651	8.6355	0.33945	0.1039:0.0:0.8961:0.0	.	485;485	O95932-2;O95932	.;TGM3L_HUMAN	Y	485	ENSP00000202625:D485Y;ENSP00000370831:D485Y	ENSP00000202625:D485Y	D	+	1	0	TGM6	2345994	0.998000	0.40836	0.660000	0.29694	0.036000	0.12997	3.776000	0.55356	1.155000	0.42497	-0.222000	0.12452	GAC		0.637	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		6	15	1	0	0.0293803	1	0.0295506	6	15					T	2397994	G	T	2397994	3	4	435	1	0	0	0	0	1	0	0	0	15831	1058	37	5	1491	5	TGM6	20	2397994	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	971648	2397994	60627526	8532	29457											
TMC2	117532	broad.mit.edu	37	chr20	2552882	2552882	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgggaaaggggaaaggcaaGcaactatatgcctacaagat	16	7	12	6	0	0	1	0	0	0	1	0	3	0	3	1	4	4	2	1	4	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:2552882G>T	ENST00000358864.1	+	5	627	c.612G>T	c.(610-612)aaG>aaT	p.K204N		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	204	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGAAAGGCAAGCAACTATATG	0.493																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(610-612)aaG>aaT		transmembrane channel-like 2							119	112	114					20																	2552882		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2552882G>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.612G>T	20.37:g.2552882G>T	ENSP00000351732:p.Lys204Asn						p.K204N	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			5	627	+			204			Arg/Asp/Glu/Lys-rich (highly charged).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.612G>T	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931235	0.52866	.	.	ENSG00000149488	ENST00000358864	T	0.50548	0.74	5.16	0.958	0.19619	.	0.090050	0.85682	N	0.000000	T	0.56891	0.2016	M	0.63428	1.95	0.34650	D	0.721557	D;D;D;D	0.76494	0.977;0.987;0.999;0.999	P;P;D;D	0.72982	0.821;0.584;0.979;0.971	T	0.62388	-0.6865	10	0.66056	D	0.02	-22.9794	4.4993	0.11856	0.3517:0.1557:0.4926:0.0	.	35;36;204;204	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	N	204	ENSP00000351732:K204N	ENSP00000351732:K204N	K	+	3	2	TMC2	2500882	1.000000	0.71417	0.137000	0.22149	0.717000	0.41224	1.127000	0.31357	0.024000	0.15214	0.655000	0.94253	AAG		0.493	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			16	26	1	0	3.99206e-14	1	4.34914e-14	16	26					T	2552882	G	T	2552882	3	4	435	1	0	0	0	0	1	0	0	0	15982	962	34	5	630	5	TMC2	20	2552882	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	154888	2552882	60472638	8533	29458											
CPXM1	56265	broad.mit.edu	37	chr20	2774860	2774860	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctgtccccttagccgCtccaggcgcctgcgaaggtc	4	10	10	17	3	1	0	0	0	1	0	5	1	4	0	6	2	2	1	6	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:2774860C>T	ENST00000380605.2	-	14	2245	c.2181G>A	c.(2179-2181)gaG>gaA	p.E727E		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	727					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCCTTAGCCGCTCCAGGCGCC	0.617																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2179-2181)gaG>gaA		carboxypeptidase X (M14 family), member 1							37	42	40					20																	2774860		2202	4298	6500	SO:0001819	synonymous_variant	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2774860C>T	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.2181G>A	20.37:g.2774860C>T							p.E727E	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			14	2245	-			727					Q6P4G8|Q6UW65|Q9NUB5	Silent	SNP	ENST00000380605.2	37	c.2181G>A	CCDS13033.1																																																																																				0.617	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		24	32	0	0	0	1	0	24	32					T	2774860	C	T	2774860	2	4	435	1	0	0	0	0	0	0	0	1	3837	796	28	3		3	CPXM1	20	2774860	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	221978	2774860	60250660	8534	29459											
FAM113A	64773	broad.mit.edu	37	chr20	2819013	2819013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggtgctgtactgcatgccGgaagtgaaagtggaggtcta	10	9	15	7	2	1	1	0	1	1	0	1	3	1	3	1	4	4	3	1	4	4	2	rs200943983		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:2819013G>A	ENST00000360652.2	-	6	1208	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	VPS16_ENST00000380469.3_5'Flank|PCED1A_ENST00000356872.3_Missense_Mutation_p.R185W|VPS16_ENST00000380445.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	236	His-rich.																ACTGCATGCCGGAAGTGAAAG	0.607																																						ENST00000360652.2																			0											c.(706-708)Cgg>Tgg		PC-esterase domain containing 1A							143	121	128					20																	2819013		2203	4300	6503	SO:0001583	missense	64773							g.chr20:2819013G>A	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 81", "family with sequence similarity 113, member A"	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.706C>T	20.37:g.2819013G>A	ENSP00000353868:p.Arg236Trp					PCED1A_ENST00000356872.3_Missense_Mutation_p.R185W	p.R236W	NM_022760.3	NP_073597.2					6	1208	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	37	c.706C>T	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089244	0.76756	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000448755;ENST00000439542	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	4.14	4.14	0.48551	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.987;0.984;0.971;0.999	T	0.61372	-0.7076	10	0.87932	D	0	-21.0297	14.2925	0.66289	0.0:0.0:1.0:0.0	.	185;232;83;236	Q9H1Q7-2;D3DVX4;B4DEI2;Q9H1Q7	.;.;.;F113A_HUMAN	W	185;236;185;236	ENSP00000349334:R185W;ENSP00000353868:R236W;ENSP00000388935:R185W;ENSP00000401711:R236W	ENSP00000349334:R185W	R	-	1	2	FAM113A	2767013	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.182000	0.65059	2.309000	0.77851	0.563000	0.77884	CGG		0.607	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		19	25	0	0	0	1	0	19	25					A	2819013	G	A	2819013	3	1	435	1	0	0	0	0	1	0	0	0	5401	1115	39	2	670	2	FAM113A	20	2819013	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44153	2819013	60206507	8535	29460											
VPS16	64601	broad.mit.edu	37	chr20	2845812	2845812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctacagaggatcaaatgCggctcctacggctgcagcgg	10	6	14	11	3	1	1	1	0	0	1	2	2	2	2	1	5	5	4	1	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:2845812C>T	ENST00000380445.3	+	21	2095	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W	VPS16_ENST00000380443.3_Missense_Mutation_p.R361W|VPS16_ENST00000380469.3_Missense_Mutation_p.R531W|PTPRA_ENST00000380393.3_5'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	675					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GGATCAAATGCGGCTCCTACG	0.582																																						ENST00000380445.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(2023-2025)Cgg>Tgg		vacuolar protein sorting 16 homolog (S. cerevisiae)							65	71	69					20																	2845812		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2845812C>T	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.2023C>T	20.37:g.2845812C>T	ENSP00000369810:p.Arg675Trp					VPS16_ENST00000380443.3_Missense_Mutation_p.R361W|PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.R531W	p.R675W	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN			21	2095	+			675					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.2023C>T	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271586	0.59649	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	T;T;T	0.52983	0.64;0.64;0.64	4.89	-1.44	0.08856	Vps16, C-terminal (1);	0.112447	0.56097	D	0.000027	T	0.63165	0.2488	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	0.997;0.999;1.0;0.999	P;D;D;D	0.65987	0.875;0.94;0.926;0.94	T	0.69522	-0.5123	10	0.87932	D	0	-22.8414	14.661	0.68870	0.7619:0.2381:0.0:0.0	.	151;361;531;675	A1A4H0;Q5JUA8;Q9H269-2;Q9H269	.;.;.;VPS16_HUMAN	W	675;531;361	ENSP00000369810:R675W;ENSP00000369836:R531W;ENSP00000369808:R361W	ENSP00000369808:R361W	R	+	1	2	VPS16	2793812	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	1.586000	0.36611	-0.081000	0.12662	-0.182000	0.12963	CGG		0.582	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		18	38	0	0	0	1	0	18	38					T	2845812	C	T	2845812	3	4	435	1	0	0	0	0	1	0	0	0	17190	759	27	1	2105	1	VPS16	20	2845812	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26799	2845812	60179708	8536	29461											
PTPRA	5786	broad.mit.edu	37	chr20	2967425	2967425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcagatgagacaccaattAttgcggtgatggtggccctg	9	12	12	8	1	1	3	1	2	0	2	1	4	1	3	2	3	1	0	2	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:2967425A>G	ENST00000216877.6	+	6	830	c.430A>G	c.(430-432)Att>Gtt	p.I144V	PTPRA_ENST00000399903.2_Missense_Mutation_p.I153V|PTPRA_ENST00000318266.5_Missense_Mutation_p.I144V|PTPRA_ENST00000425918.2_Missense_Mutation_p.I164V|PTPRA_ENST00000380393.3_Missense_Mutation_p.I153V|PTPRA_ENST00000356147.3_Missense_Mutation_p.I144V|PTPRA_ENST00000358719.4_5'UTR	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	144					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GACACCAATTATTGCGGTGAT	0.433																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(430-432)Att>Gtt		protein tyrosine phosphatase, receptor type, A							338	263	289					20																	2967425		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:2967425A>G		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.430A>G	20.37:g.2967425A>G	ENSP00000216877:p.Ile144Val					PTPRA_ENST00000399903.2_Missense_Mutation_p.I153V|PTPRA_ENST00000425918.2_Missense_Mutation_p.I164V|PTPRA_ENST00000380393.3_Missense_Mutation_p.I153V|PTPRA_ENST00000356147.3_Missense_Mutation_p.I144V|PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000318266.5_Missense_Mutation_p.I144V	p.I144V	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			6	830	+			144					A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.430A>G	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598420	0.66332	.	.	ENSG00000132670	ENST00000380393;ENST00000455631;ENST00000216877;ENST00000399903;ENST00000418580;ENST00000425918;ENST00000318266;ENST00000430705;ENST00000356147	T;T;T;T;T;T;T;T	0.58358	3.8;0.57;3.87;3.8;3.8;3.87;0.34;3.87	5.81	5.81	0.92471	.	0.056814	0.64402	U	0.000002	T	0.39989	0.1099	N	0.24115	0.695	0.80722	D	1	B;B;B	0.28850	0.144;0.225;0.225	B;B;B	0.30316	0.053;0.114;0.114	T	0.24584	-1.0156	10	0.15499	T	0.54	.	16.1677	0.81782	1.0:0.0:0.0:0.0	.	164;153;144	B7Z2A4;P18433-3;P18433-4	.;.;.	V	153;144;144;153;153;164;144;153;144	ENSP00000369756:I153V;ENSP00000414089:I144V;ENSP00000216877:I144V;ENSP00000382787:I153V;ENSP00000393553:I164V;ENSP00000314568:I144V;ENSP00000394132:I153V;ENSP00000348468:I144V	ENSP00000216877:I144V	I	+	1	0	PTPRA	2915425	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.989000	0.93506	2.218000	0.71995	0.528000	0.53228	ATT		0.433	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			31	58	0	0	0	1	0	31	58					G	2967425	A	G	2967425	3	3	435	1	0	0	0	0	1	0	0	0	12795	449	16	4	471	4	PTPRA	20	2967425	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	121613	2967425	60058095	8537	29462											
PTPRA	5786	broad.mit.edu	37	chr20	3007406	3007406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaacatgaagaagaaccGtgttttacagatcattccat	15	10	7	9	1	1	4	1	1	0	3	2	4	2	4	3	0	4	1	3	0	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:3007406G>A	ENST00000216877.6	+	17	2061	c.1661G>A	c.(1660-1662)cGt>cAt	p.R554H	PTPRA_ENST00000399903.2_Missense_Mutation_p.R563H|PTPRA_ENST00000318266.5_Missense_Mutation_p.R554H|PTPRA_ENST00000425918.2_Missense_Mutation_p.R574H|PTPRA_ENST00000380393.3_Missense_Mutation_p.R563H|PTPRA_ENST00000356147.3_Missense_Mutation_p.R554H|PTPRA_ENST00000358719.4_Missense_Mutation_p.R419H	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	563	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGAAGAACCGTGTTTTACAG	0.473																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1660-1662)cGt>cAt		protein tyrosine phosphatase, receptor type, A							109	79	89					20																	3007406		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3007406G>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1661G>A	20.37:g.3007406G>A	ENSP00000216877:p.Arg554His					PTPRA_ENST00000399903.2_Missense_Mutation_p.R563H|PTPRA_ENST00000425918.2_Missense_Mutation_p.R574H|PTPRA_ENST00000380393.3_Missense_Mutation_p.R563H|PTPRA_ENST00000356147.3_Missense_Mutation_p.R554H|PTPRA_ENST00000358719.4_Missense_Mutation_p.R419H|PTPRA_ENST00000318266.5_Missense_Mutation_p.R554H	p.R554H	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			17	2061	+			563			Tyrosine-protein phosphatase 2.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.1661G>A	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136625	0.77662	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.28	5.28	0.74379	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	U	0.000001	T	0.79441	0.4446	H	0.99689	4.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.89149	0.3522	10	0.87932	D	0	.	19.2769	0.94034	0.0:0.0:1.0:0.0	.	574;563;554	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	H	563;554;563;419;173;574;554;554	ENSP00000369756:R563H;ENSP00000216877:R554H;ENSP00000382787:R563H;ENSP00000351559:R419H;ENSP00000393553:R574H;ENSP00000314568:R554H;ENSP00000348468:R554H	ENSP00000216877:R554H	R	+	2	0	PTPRA	2955406	1.000000	0.71417	0.968000	0.41197	0.189000	0.23516	9.813000	0.99286	2.619000	0.88677	0.561000	0.74099	CGT		0.473	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			17	15	0	0	0	1	0	17	15					A	3007406	G	A	3007406	3	1	435	1	0	0	0	0	1	0	0	0	12795	1145	40	1	1746	1	PTPRA	20	3007406	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	39981	3007406	60018114	8538	29463											
ATRN	8455	broad.mit.edu	37	chr20	3520965	3520965	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggactcaatttatgcaccGctagttgctgcatttaggta	9	13	11	8	1	1	0	1	0	0	0	1	1	1	1	1	3	3	6	1	3	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:3520965G>A	ENST00000262919.5	+	3	659	c.591G>A	c.(589-591)ccG>ccA	p.P197P	ATRN_ENST00000446916.2_Silent_p.P197P	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	197	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTTATGCACCGCTAGTTGCTG	0.368																																						ENST00000262919.5																			0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(589-591)ccG>ccA		attractin							157	153	154					20																	3520965		2203	4300	6503	SO:0001819	synonymous_variant	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3520965G>A	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.591G>A	20.37:g.3520965G>A						ATRN_ENST00000446916.2_Silent_p.P197P	p.P197P	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN			3	659	+			197			CUB.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Silent	SNP	ENST00000262919.5	37	c.591G>A	CCDS13053.1																																																																																				0.368	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		49	78	0	0	0	1	0	49	78					A	3520965	G	A	3520965	2	1	435	1	0	0	0	0	0	0	0	1	1206	1074	38	1		1	ATRN	20	3520965	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	513559	3520965	59504555	8539	29464											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673761	3673761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggaggtaggtcaggcGcaggttgcggggcgcgtctg	5	7	19	10	4	2	0	1	0	1	0	3	1	3	1	1	7	1	3	1	7	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:3673761G>A	ENST00000344754.4	-	14	3525	c.3526C>T	c.(3526-3528)Cgc>Tgc	p.R1176C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1176C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1176	Ig-like C2-type 12.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			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						TAGGTCAGGCGCAGGTTGCGG	0.677																																						ENST00000344754.4																			0				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						c.(3526-3528)Cgc>Tgc		sialic acid binding Ig-like lectin 1, sialoadhesin							17	24	22					20																	3673761		2172	4269	6441	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673761G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3526C>T	20.37:g.3673761G>A	ENSP00000341141:p.Arg1176Cys					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1176C	p.R1176C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			14	3525	-			1176			Ig-like C2-type 12.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3526C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782835	0.70222	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.25912	1.8;1.77	4.83	4.83	0.62350	.	0.605964	0.13805	N	0.361491	T	0.34395	0.0896	L	0.36672	1.1	0.40147	D	0.976902	D;D	0.89917	1.0;0.999	P;P	0.56514	0.8;0.738	T	0.02037	-1.1225	10	0.38643	T	0.18	.	13.2775	0.60196	0.0:0.0:1.0:0.0	.	1176;1176	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	C	1176	ENSP00000341141:R1176C;ENSP00000202578:R1176C	ENSP00000202578:R1176C	R	-	1	0	SIGLEC1	3621761	0.000000	0.05858	0.431000	0.26735	0.922000	0.55478	0.625000	0.24477	2.512000	0.84698	0.655000	0.94253	CGC		0.677	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		7	14	0	0	0	1	0	7	14					A	3673761	G	A	3673761	3	1	435	1	0	0	0	0	1	0	0	0	14305	1087	38	1	1635	1	SIGLEC1	20	3673761	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	152796	3673761	59351759	8540	29465											
SIGLEC1	6614	broad.mit.edu	37	chr20	3682283	3682283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcaggactggagtgagagGcgggtctgtgtggagacgag	8	8	20	5	2	2	2	1	1	1	2	2	7	2	4	0	5	0	0	0	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:3682283G>A	ENST00000344754.4	-	6	1233	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P412S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	412	Ig-like C2-type 4.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			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						GGAGTGAGAGGCGGGTCTGTG	0.612																																						ENST00000344754.4																			0				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						c.(1234-1236)Cct>Tct		sialic acid binding Ig-like lectin 1, sialoadhesin							34	34	34					20																	3682283		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3682283G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1234C>T	20.37:g.3682283G>A	ENSP00000341141:p.Pro412Ser					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P412S	p.P412S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			6	1233	-			412			Ig-like C2-type 4.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.1234C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844582	0.51164	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.35236	1.34;1.32	5.79	5.79	0.91817	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41294	D	0.000901	T	0.66771	0.2823	M	0.86740	2.835	0.51012	D	0.999905	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.71213	-0.4659	10	0.66056	D	0.02	.	17.5373	0.87835	0.0:0.0:1.0:0.0	.	412;412	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	S	412	ENSP00000341141:P412S;ENSP00000202578:P412S	ENSP00000202578:P412S	P	-	1	0	SIGLEC1	3630283	1.000000	0.71417	0.914000	0.36105	0.007000	0.05969	5.947000	0.70242	2.731000	0.93534	0.650000	0.86243	CCT		0.612	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		6	10	0	0	0	1	0	6	10					A	3682283	G	A	3682283	3	1	435	1	0	0	0	0	1	0	0	0	14305	1203	42	3	3959	3	SIGLEC1	20	3682283	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8522	3682283	59343237	8541	29466											
CDC25B	994	broad.mit.edu	37	chr20	3784075	3784075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtgaacttgcccctggaaCgcgacgccgagagcttccta	8	7	12	14	5	0	2	0	1	0	1	1	5	1	3	4	2	4	1	4	2	3	3	rs377681163		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:3784075C>T	ENST00000245960.5	+	14	2078	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C	CDC25B_ENST00000344256.6_Missense_Mutation_p.R397C|CDC25B_ENST00000439880.2_Missense_Mutation_p.R447C|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_Missense_Mutation_p.R370C|CDC25B_ENST00000340833.4_Missense_Mutation_p.R420C	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	461	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GCCCCTGGAACGCGACGCCGA	0.612													C|||	1	0.000199681	0	0	5008	,	,		19605	0.001		0	False		,,,				2504	0					ENST00000245960.5																			0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(1381-1383)Cgc>Tgc		cell division cycle 25B		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	103	94	97		1339,1258,1381	2.4	0.2	20		97	0,8600		0,0,4300	no	missense,missense,missense	CDC25B	NM_004358.3,NM_021872.2,NM_021873.2	180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	447/567,420/540,461/581	3784075	1,13005	2203	4300	6503	SO:0001583	missense	994				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	g.chr20:3784075C>T		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1381C>T	20.37:g.3784075C>T	ENSP00000245960:p.Arg461Cys					CDC25B_ENST00000379598.5_Missense_Mutation_p.R370C|CDC25B_ENST00000439880.2_Missense_Mutation_p.R447C|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Missense_Mutation_p.R397C|CDC25B_ENST00000340833.4_Missense_Mutation_p.R420C	p.R461C	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN			14	2078	+			461			Rhodanese.		D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	c.1381C>T	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527168	0.64860	2.27E-4	0.0	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.55	2.42	0.29668	Rhodanese-like (5);	0.612109	0.16971	N	0.192117	T	0.47173	0.1431	L	0.60904	1.88	0.43494	D	0.995739	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.998;0.999	P;P;P;P;P;P	0.61477	0.833;0.833;0.833;0.823;0.742;0.889	T	0.45190	-0.9278	10	0.87932	D	0	-18.2499	13.1484	0.59477	0.4159:0.5841:0.0:0.0	.	370;383;397;420;447;461	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	C	397;370;461;447;420	ENSP00000339125:R397C;ENSP00000368918:R370C;ENSP00000245960:R461C;ENSP00000405972:R447C;ENSP00000339170:R420C	ENSP00000245960:R461C	R	+	1	0	CDC25B	3732075	0.427000	0.25514	0.160000	0.22671	0.582000	0.36321	0.232000	0.17891	0.334000	0.23590	0.655000	0.94253	CGC		0.612	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		26	23	0	0	0	1	0	26	23					T	3784075	C	T	3784075	3	4	435	1	0	0	0	0	1	0	0	0	3063	536	19	1	1435	1	CDC25B	20	3784075	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	101792	3784075	59241445	8542	29467											
PANK2	80025	broad.mit.edu	37	chr20	3888801	3888801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcaatctgcactttatacGctttcccactcatgacatgc	10	12	6	13	1	2	1	1	1	1	0	3	1	3	1	1	1	3	3	1	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:3888801G>A	ENST00000316562.4	+	2	863	c.857G>A	c.(856-858)cGc>cAc	p.R286H	PANK2_ENST00000497424.1_5'UTR|PANK2_ENST00000610179.1_Missense_Mutation_p.R163H	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	286			R -> C (in NBIA1). {ECO:0000269|PubMed:11479594}.		aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACTTTATACGCTTTCCCACT	0.502																																						ENST00000316562.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(856-858)cGc>cAc		pantothenate kinase 2							141	117	125					20																	3888801		2203	4300	6503	SO:0001583	missense	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3888801G>A	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"Hallervorden-Spatz syndrome"	606157	"neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.857G>A	20.37:g.3888801G>A	ENSP00000313377:p.Arg286His					PANK2_ENST00000497424.1_5'UTR|PANK2_ENST00000336066.3_Intron	p.R286H	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN			2	863	+			286		R -> C (in NBIA1).			B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	37	c.857G>A	CCDS13071.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385080	0.82792	.	.	ENSG00000125779	ENST00000316562;ENST00000399552	D	0.99545	-6.13	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.98492	0.9497	M	0.64676	1.99	0.80722	D	1	P	0.46512	0.879	B	0.32022	0.139	D	0.99727	1.1011	10	0.59425	D	0.04	.	17.2626	0.87075	0.0:0.0:1.0:0.0	.	286	Q9BZ23	PANK2_HUMAN	H	286;102	ENSP00000313377:R286H	ENSP00000313377:R286H	R	+	2	0	PANK2	3836801	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.591000	0.98241	2.941000	0.99782	0.655000	0.94253	CGC		0.502	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		36	35	0	0	0	1	0	36	35					A	3888801	G	A	3888801	3	1	435	1	0	0	0	0	1	0	0	0	11417	1087	38	1	863	1	PANK2	20	3888801	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	104726	3888801	59136719	8543	29468											
RNF24	11237	broad.mit.edu	37	chr20	3915668	3915668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggcgtgcttacatgggCaaatccccaactcatctcga	11	8	10	12	2	2	0	1	0	1	0	4	2	3	1	2	3	3	2	2	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:3915668C>T	ENST00000336095.6	-	5	532	c.281G>A	c.(280-282)tGc>tAc	p.C94Y	RNF24_ENST00000545616.2_Missense_Mutation_p.C115Y|RNF24_ENST00000358395.6_Missense_Mutation_p.C94Y|RNF24_ENST00000432261.2_Missense_Mutation_p.C115Y	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	94						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(1)|upper_aerodigestive_tract(1)	2						CTTACATGGGCAAATCCCCAA	0.448																																						ENST00000336095.5																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(280-282)tGc>tAc		ring finger protein 24							152	126	135					20																	3915668		2203	4300	6503	SO:0001583	missense	0					Golgi membrane|integral to membrane	zinc ion binding	g.chr20:3915668C>T	AF151081	CCDS13074.1, CCDS46577.1	20p13	2013-01-09			ENSG00000101236	ENSG00000101236		"RING-type (C3HC4) zinc fingers"	13779	protein-coding gene	gene with protein product		612489					Standard	NM_007219		Approved	G1L	uc002wki.2	Q9Y225	OTTHUMG00000031770	ENST00000336095.6:c.281G>A	20.37:g.3915668C>T	ENSP00000336753:p.Cys94Tyr					RNF24_ENST00000545616.1_Missense_Mutation_p.C115Y|RNF24_ENST00000358395.6_Missense_Mutation_p.C94Y|RNF24_ENST00000432261.2_Missense_Mutation_p.C115Y	p.C94Y	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN			5	532	-			94					D3DVZ2|D3DVZ3|Q9UMH1	Missense_Mutation	SNP	ENST00000336095.6	37	c.281G>A	CCDS13074.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312316	0.81358	.	.	ENSG00000101236	ENST00000336095;ENST00000358395;ENST00000545616;ENST00000432261	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.9	4.95	0.65309	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.57169	0.2035	L	0.48642	1.525	0.58432	D	0.999999	D;D	0.71674	0.998;0.971	D;P	0.72338	0.977;0.5	T	0.60677	-0.7216	10	0.87932	D	0	-9.3382	14.2529	0.66031	0.1501:0.8499:0.0:0.0	.	115;94	Q9Y225-2;Q9Y225	.;RNF24_HUMAN	Y	94;94;115;115	ENSP00000336753:C94Y;ENSP00000351166:C94Y;ENSP00000444711:C115Y;ENSP00000388550:C115Y	ENSP00000336753:C94Y	C	-	2	0	RNF24	3863668	1.000000	0.71417	0.963000	0.40424	0.994000	0.84299	6.731000	0.74785	1.476000	0.48215	0.561000	0.74099	TGC		0.448	RNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077795.2			9	25	0	0	0	1	0	9	25					T	3915668	C	T	3915668	3	4	435	1	0	0	0	0	1	0	0	0	13484	710	25	3	173	3	RNF24	20	3915668	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26867	3915668	59109852	8544	29469											
SMOX	54498	broad.mit.edu	37	chr20	4163429	4163429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcggggaggaggccctcGtcatggagaagtgtgatgac	8	8	17	8	2	2	3	1	2	1	1	3	6	2	5	1	5	1	0	1	5	1	0	rs150061281	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:4163429G>A	ENST00000305958.4	+	5	1528	c.1303G>A	c.(1303-1305)Gtc>Atc	p.V435I	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Missense_Mutation_p.V382I|SMOX_ENST00000339123.6_Missense_Mutation_p.V382I|SMOX_ENST00000379460.2_Missense_Mutation_p.V435I	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	435					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GGAGGCCCTCGTCATGGAGAA	0.637																																						ENST00000305958.4																			0				breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(1303-1305)Gtc>Atc		spermine oxidase	Spermine(DB00127)	G	ILE/VAL,ILE/VAL,,ILE/VAL	0,4406		0,0,2203	66	61	63		1303,1144,,1144	4.6	1	20	dbSNP_134	63	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,intron,missense	SMOX	NM_175839.1,NM_175840.1,NM_175841.1,NM_175842.1	29,29,,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,,benign	435/556,382/503,,382/533	4163429	2,13004	2203	4300	6503	SO:0001583	missense	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4163429G>A	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"chromosome 20 open reading frame 16"	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1303G>A	20.37:g.4163429G>A	ENSP00000307252:p.Val435Ile					SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.V435I|SMOX_ENST00000278795.3_Missense_Mutation_p.V382I|SMOX_ENST00000339123.6_Missense_Mutation_p.V382I	p.V435I	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN			5	1528	+			435					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	c.1303G>A	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.925090	0.34002	0.0	2.33E-4	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000379460;ENST00000457205	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	5.5	4.55	0.56014	Amine oxidase (1);	0.522854	0.22556	N	0.058522	T	0.76622	0.4013	N	0.02412	-0.56	0.24237	N	0.995371	B;B;B;B;B	0.25850	0.007;0.136;0.013;0.005;0.029	B;B;B;B;B	0.15870	0.003;0.014;0.005;0.004;0.004	T	0.64997	-0.6275	10	0.19590	T	0.45	-32.9553	8.2145	0.31503	0.1777:0.0:0.8223:0.0	.	359;435;435;382;382	B4DE63;Q9NWM0-6;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;SMOX_HUMAN;.;.	I	382;435;382;435;292	ENSP00000344595:V382I;ENSP00000307252:V435I;ENSP00000278795:V382I;ENSP00000368773:V435I;ENSP00000407269:V292I	ENSP00000278795:V382I	V	+	1	0	SMOX	4111429	0.978000	0.34361	0.969000	0.41365	0.997000	0.91878	1.982000	0.40638	1.340000	0.45581	0.650000	0.86243	GTC		0.637	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		6	23	0	0	0	1	0	6	23					A	4163429	G	A	4163429	3	1	435	1	0	0	0	0	1	0	0	0	14803	1145	40	1	1317	1	SMOX	20	4163429	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	247761	4163429	58862091	8545	29470											
SMOX	54498	broad.mit.edu	37	chr20	4167394	4167394	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggcttcctcaccagcatgGaagctccacaaagcagcagc	11	6	9	15	0	1	0	1	0	0	0	3	1	3	1	3	2	5	5	3	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:4167394G>A	ENST00000305958.4	+	7	1755				SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Missense_Mutation_p.G459E|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000379460.2_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase						cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	caccagcatggaagctccaca	0.512																																						ENST00000278795.3																			0				breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(1375-1377)gGa>gAa		spermine oxidase	Spermine(DB00127)						92	85	87					20																	4167394		2203	4300	6503	SO:0001627	intron_variant	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4167394G>A	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"chromosome 20 open reading frame 16"	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1531-523G>A	20.37:g.4167394G>A						SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Intron|SMOX_ENST00000305958.4_Intron|SMOX_ENST00000339123.6_Intron	p.G459E	NM_175842.1	NP_787036.1	Q9NWM0	SMOX_HUMAN			8	1601	+			510					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	c.1376G>A	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021971	0.35701	.	.	ENSG00000088826	ENST00000278795;ENST00000457205	T;T	0.28666	1.61;1.6	3.34	3.34	0.38264	.	.	.	.	.	T	0.38665	0.1049	.	.	.	0.80722	D	1	B;D	0.69078	0.205;0.997	B;D	0.70487	0.062;0.969	T	0.10660	-1.0620	8	0.08381	T	0.77	.	10.478	0.44676	0.0:0.0:1.0:0.0	.	512;459	Q9NWM0-6;Q9NWM0-4	.;.	E	459;369	ENSP00000278795:G459E;ENSP00000407269:G369E	ENSP00000278795:G459E	G	+	2	0	SMOX	4115394	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.708000	0.54845	2.177000	0.69029	0.655000	0.94253	GGA		0.512	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		17	96	0	0	0	1	0	17	96					A	4167394	G	A	4167394	1	1	435	0	1	0	0	0	0	0	0	0	14803	1174	41	3		3	SMOX	20	4167394	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3965	4167394	58858126	8546	29471											
PRNP	5621	broad.mit.edu	37	chr20	4680520	4680520	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagatgtgtatcacccagtaCgagagggaatctcaggccta	12	8	11	10	1	2	2	2	0	1	2	3	4	2	3	2	2	1	2	2	2	4	3	rs375057882		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:4680520C>T	ENST00000379440.4	+	2	941	c.654C>T	c.(652-654)taC>taT	p.Y218Y	PRNP_ENST00000430350.2_Silent_p.Y218Y	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TCACCCAGTACGAGAGGGAAT	0.532																																						ENST00000379440.4																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						c.(652-654)taC>taT		prion protein	Tetracycline(DB00759)	C	,,,,	0,4406		0,0,2203	136	117	123		654,654,654,654,654	3.7	0.9	20		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRNP	NM_000311.3,NM_001080121.1,NM_001080122.1,NM_001080123.1,NM_183079.2	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	218/254,218/254,218/254,218/254,218/254	4680520	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5621				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	g.chr20:4680520C>T	M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"CD molecules"	9449	protein-coding gene	gene with protein product	"Creutzfeldt-Jakob disease", "Gerstmann-Strausler-Scheinker syndrome", "fatal familial insomnia", "p27-30"	176640	"prion protein (p27-30)"	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.654C>T	20.37:g.4680520C>T						PRNP_ENST00000430350.2_Silent_p.Y218Y	p.Y218Y	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN			2	941	+			218			Interaction with GRB2, ERI3 and SYN1 (By similarity).			Silent	SNP	ENST00000379440.4	37	c.654C>T	CCDS13080.1																																																																																				0.532	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		14	17	0	0	0	1	0	14	17					T	4680520	C	T	4680520	2	4	435	1	0	0	0	0	0	0	0	1	12544	547	19	1		1	PRNP	20	4680520	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	513126	4680520	58345000	8547	29472											
PCNA	5111	broad.mit.edu	37	chr20	5098243	5098243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagcatctccaatatggCtgagatctcggcatatacgt	12	10	8	11	2	2	1	0	1	2	1	4	2	2	1	1	2	3	3	1	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:5098243C>T	ENST00000379160.3	-	5	697	c.455G>A	c.(454-456)aGc>aAc	p.S152N	PCNA_ENST00000379143.5_Missense_Mutation_p.S152N	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	152					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|epithelial cell differentiation (GO:0030855)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|leading strand elongation (GO:0006272)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of deoxyribonuclease activity (GO:0032077)|regulation of DNA replication (GO:0006275)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cadmium ion (GO:0046686)|response to lipid (GO:0033993)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)|translesion synthesis (GO:0019985)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|nuclear replication fork (GO:0043596)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA complex (GO:0043626)|PCNA-p21 complex (GO:0070557)	dinucleotide insertion or deletion binding (GO:0032139)|DNA polymerase binding (GO:0070182)|DNA polymerase processivity factor activity (GO:0030337)|identical protein binding (GO:0042802)|MutLalpha complex binding (GO:0032405)|purine-specific mismatch base pair DNA N-glycosylase activity (GO:0000701)|receptor tyrosine kinase binding (GO:0030971)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						TCCAATATGGCTGAGATCTCG	0.373								DNA polymerases (catalytic subunits)																														ENST00000379160.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						c.(454-456)aGc>aAc	DNA polymerases (catalytic subunits)	proliferating cell nuclear antigen							110	107	108					20																	5098243		2203	4300	6503	SO:0001583	missense	5111				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	g.chr20:5098243C>T	J04718	CCDS13087.1	20p13-p12.3	2013-09-19			ENSG00000132646	ENSG00000132646			8729	protein-coding gene	gene with protein product		176740				2565339	Standard	NM_002592		Approved		uc002wlp.3	P12004	OTTHUMG00000031798	ENST00000379160.3:c.455G>A	20.37:g.5098243C>T	ENSP00000368458:p.Ser152Asn					PCNA_ENST00000379143.5_Missense_Mutation_p.S152N	p.S152N	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN			5	697	-			152					B2R897|D3DW02	Missense_Mutation	SNP	ENST00000379160.3	37	c.455G>A	CCDS13087.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313402	0.81358	.	.	ENSG00000132646	ENST00000379143;ENST00000379160	.	.	.	5.24	5.24	0.73138	Proliferating cell nuclear antigen, PCNA, C-terminal (1);	0.126165	0.64402	D	0.000001	T	0.73590	0.3606	M	0.74647	2.275	0.80722	D	1	P	0.44006	0.824	P	0.51895	0.683	T	0.74194	-0.3744	9	0.42905	T	0.14	-10.4414	17.3773	0.87396	0.0:1.0:0.0:0.0	.	152	P12004	PCNA_HUMAN	N	152	.	ENSP00000368438:S152N	S	-	2	0	PCNA	5046243	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.127000	0.71642	2.459000	0.83118	0.462000	0.41574	AGC		0.373	PCNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077852.2			5	114	0	0	0	1	0	5	114					T	5098243	C	T	5098243	3	4	435	1	0	0	0	0	1	0	0	0	11588	797	28	3	342	3	PCNA	20	5098243	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	417723	5098243	57927277	8548	29473											
CDS2	8760	broad.mit.edu	37	chr20	5159511	5159511	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctatggtgagacagtgacGgattacttcttcaccctggt	8	14	10	9	1	3	2	1	2	2	1	3	4	3	3	1	3	1	0	1	3	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:5159511G>A	ENST00000460006.1	+	5	745	c.438G>A	c.(436-438)acG>acA	p.T146T	CDS2_ENST00000379062.4_Silent_p.T26T|CDS2_ENST00000535100.1_5'UTR|CDS2_ENST00000379070.3_3'UTR	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	146					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						AGACAGTGACGGATTACTTCT	0.448																																						ENST00000460006.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						c.(436-438)acG>acA		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2							171	152	158					20																	5159511		2203	4300	6503	SO:0001819	synonymous_variant	8760				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	g.chr20:5159511G>A	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.438G>A	20.37:g.5159511G>A						CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Silent_p.T26T|CDS2_ENST00000535100.1_5'UTR	p.T146T	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN			5	745	+			146					B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Silent	SNP	ENST00000460006.1	37	c.438G>A	CCDS13088.1																																																																																				0.448	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			35	47	0	0	0	1	0	35	47					A	5159511	G	A	5159511	2	1	435	1	0	0	0	0	0	0	0	1	3178	1103	39	2		2	CDS2	20	5159511	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	61268	5159511	57866009	8549	29474											
CDS2	8760	broad.mit.edu	37	chr20	5169772	5169772	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctctctccacctttgcctcGctcattggcccctttggagg	3	13	9	16	1	2	0	1	0	1	0	5	1	3	1	5	3	1	2	5	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:5169772G>A	ENST00000460006.1	+	11	1348	c.1041G>A	c.(1039-1041)tcG>tcA	p.S347S	CDS2_ENST00000379062.4_Silent_p.S227S|CDS2_ENST00000535100.1_Silent_p.S117S|CDS2_ENST00000379070.3_3'UTR	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	347					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						CCTTTGCCTCGCTCATTGGCC	0.463																																						ENST00000460006.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						c.(1039-1041)tcG>tcA		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2							170	158	162					20																	5169772		2203	4300	6503	SO:0001819	synonymous_variant	8760				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	g.chr20:5169772G>A	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.1041G>A	20.37:g.5169772G>A						CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Silent_p.S227S|CDS2_ENST00000535100.1_Silent_p.S117S	p.S347S	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN			11	1348	+			347					B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Silent	SNP	ENST00000460006.1	37	c.1041G>A	CCDS13088.1																																																																																				0.463	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			11	64	0	0	0	1	0	11	64					A	5169772	G	A	5169772	2	1	435	1	0	0	0	0	0	0	0	1	3178	1074	38	1		1	CDS2	20	5169772	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10261	5169772	57855748	8550	29475											
CDS2	8760	broad.mit.edu	37	chr20	5170424	5170424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatggaggcatcatggatcGctttgactgccagtatctga	9	11	11	10	1	2	2	1	2	1	0	3	4	2	4	2	3	1	3	2	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:5170424G>A	ENST00000460006.1	+	12	1452	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	CDS2_ENST00000379062.4_Missense_Mutation_p.R262H|CDS2_ENST00000535100.1_Missense_Mutation_p.R152H|CDS2_ENST00000379070.3_3'UTR	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	382					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						ATCATGGATCGCTTTGACTGC	0.478																																						ENST00000460006.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						c.(1144-1146)cGc>cAc		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2							234	200	211					20																	5170424		2203	4300	6503	SO:0001583	missense	8760				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	g.chr20:5170424G>A	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.1145G>A	20.37:g.5170424G>A	ENSP00000419879:p.Arg382His					CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Missense_Mutation_p.R262H|CDS2_ENST00000535100.1_Missense_Mutation_p.R152H	p.R382H	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN			12	1452	+			382					B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	ENST00000460006.1	37	c.1145G>A	CCDS13088.1	.	.	.	.	.	.	.	.	.	.	G	33	5.245325	0.95272	.	.	ENSG00000101290	ENST00000460006;ENST00000379062;ENST00000535100	T;T;T	0.61274	0.12;0.12;0.12	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.84602	0.5508	H	0.97077	3.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.988;0.974;0.993	D	0.89406	0.3699	10	0.87932	D	0	-15.928	18.3704	0.90405	0.0:0.0:1.0:0.0	.	152;262;382	F6VWC5;E7EQ83;O95674	.;.;CDS2_HUMAN	H	382;262;152	ENSP00000419879:R382H;ENSP00000368352:R262H;ENSP00000440555:R152H	ENSP00000368352:R262H	R	+	2	0	CDS2	5118424	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.785000	0.99042	2.755000	0.94549	0.555000	0.69702	CGC		0.478	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			39	63	0	0	0	1	0	39	63					A	5170424	G	A	5170424	3	1	435	1	0	0	0	0	1	0	0	0	3178	1087	38	1	1191	1	CDS2	20	5170424	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	652	5170424	57855096	8551	29476											
PROKR2	128674	broad.mit.edu	37	chr20	5283038	5283038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaccgtcttcctgcggcagCgcagccgcttgcgaatctgc	5	8	13	15	5	2	0	0	0	2	0	3	2	3	1	3	2	5	3	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:5283038C>T	ENST00000217270.3	-	2	802	c.803G>A	c.(802-804)cGc>cAc	p.R268H	PROKR2_ENST00000546004.1_Missense_Mutation_p.R268H	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	268			R -> C (in HH3; uncertain pathological significance; phenotype consistent with Kallmann syndrome; some patients also carry pathogenic mutations in SEMA3A; dbSNP:rs78861628). {ECO:0000269|PubMed:17054399, ECO:0000269|PubMed:22927827}.		circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CCTGCGGCAGCGCAGCCGCTT	0.597										HNSCC(71;0.22)																												ENST00000546004.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(802-804)cGc>cAc		prokineticin receptor 2							59	51	54					20																	5283038		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283038C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.803G>A	20.37:g.5283038C>T	ENSP00000217270:p.Arg268His	HNSCC(71;0.22)				PROKR2_ENST00000217270.3_Missense_Mutation_p.R268H	p.R268H			Q8NFJ6	PKR2_HUMAN			3	1049	-			268		R -> C.			A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.803G>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867046	0.72065	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.41400	1.0;1.0	5.05	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.048823	0.85682	D	0.000000	T	0.61173	0.2326	M	0.77616	2.38	0.54753	D	0.999987	D	0.67145	0.996	P	0.61397	0.888	T	0.66862	-0.5816	10	0.87932	D	0	.	13.1366	0.59413	0.0:0.8379:0.1621:0.0	.	268	Q8NFJ6	PKR2_HUMAN	H	268	ENSP00000440790:R268H;ENSP00000217270:R268H	ENSP00000217270:R268H	R	-	2	0	PROKR2	5231038	0.984000	0.35163	1.000000	0.80357	0.994000	0.84299	2.723000	0.47277	1.103000	0.41568	0.655000	0.94253	CGC		0.597	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		8	27	0	0	0	1	0	8	27					T	5283038	C	T	5283038	3	4	435	1	0	0	0	0	1	0	0	0	12553	768	27	1	354	1	PROKR2	20	5283038	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	112614	5283038	57742482	8552	29477											
MCM8	84515	broad.mit.edu	37	chr20	5958549	5958549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgttgccccacgtggcGtgtatgtttgtggtaacacc	7	12	12	10	2	0	0	0	0	0	0	0	0	0	0	3	2	2	5	3	2	3	4	rs376216985		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:5958549G>A	ENST00000378896.3	+	13	1800	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	MCM8_ENST00000378886.2_Missense_Mutation_p.V515M|MCM8_ENST00000265187.4_Missense_Mutation_p.V459M|MCM8_ENST00000378883.1_Missense_Mutation_p.V428M	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	475	MCM.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CCCACGTGGCGTGTATGTTTG	0.453																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(1423-1425)Gtg>Atg		minichromosome maintenance complex component 8		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	111	92	98		1423,1375	4.8	0.9	20		98	0,8600		0,0,4300	no	missense,missense	MCM8	NM_032485.4,NM_182802.1	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	475/841,459/825	5958549	1,13005	2203	4300	6503	SO:0001583	missense	84515				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	g.chr20:5958549G>A	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"REC homolog (Drosophila)"	608187	"chromosome 20 open reading frame 154"	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1423G>A	20.37:g.5958549G>A	ENSP00000368174:p.Val475Met					MCM8_ENST00000378886.2_Missense_Mutation_p.V515M|MCM8_ENST00000378883.1_Missense_Mutation_p.V428M|MCM8_ENST00000265187.4_Missense_Mutation_p.V459M	p.V475M	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			13	1800	+			475			MCM.		B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.1423G>A	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138135	0.77775	2.27E-4	0.0	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.12569	2.67;2.95;2.67;2.67	5.73	4.78	0.61160	ATPase, AAA+ type, core (1);	0.121201	0.56097	D	0.000031	T	0.45316	0.1336	M	0.92268	3.29	0.54753	D	0.999985	D;D;D;D	0.71674	0.998;0.997;0.977;0.998	P;D;P;D	0.66602	0.86;0.934;0.746;0.945	T	0.59925	-0.7362	10	0.87932	D	0	-9.1474	14.4691	0.67504	0.0704:0.0:0.9296:0.0	.	428;515;459;475	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	M	475;428;515;459	ENSP00000368174:V475M;ENSP00000368161:V428M;ENSP00000368164:V515M;ENSP00000265187:V459M	ENSP00000265187:V459M	V	+	1	0	MCM8	5906549	1.000000	0.71417	0.904000	0.35570	0.956000	0.61745	4.889000	0.63171	1.413000	0.46997	0.650000	0.86243	GTG		0.453	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		3	43	0	0	0	1	0	3	43					A	5958549	G	A	5958549	3	1	435	1	0	0	0	0	1	0	0	0	9393	1145	40	1	1469	1	MCM8	20	5958549	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	675511	5958549	57066971	8553	29478											
MCM8	84515	broad.mit.edu	37	chr20	5967973	5967973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaagcaaccaaagaagacGctgaggatatagtggaaatt	18	6	12	5	1	0	3	0	1	0	2	0	6	0	6	1	3	2	2	1	3	7	3	rs146056799	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:5967973G>A	ENST00000378896.3	+	17	2586	c.2209G>A	c.(2209-2211)Gct>Act	p.A737T	MCM8_ENST00000378886.2_Missense_Mutation_p.A777T|MCM8_ENST00000265187.4_Missense_Mutation_p.A721T|MCM8_ENST00000378883.1_Missense_Mutation_p.A690T	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	737					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CAAAGAAGACGCTGAGGATAT	0.318													G|||	4	0.000798722	0.0015	0	5008	,	,		17997	0		0.002	False		,,,				2504	0					ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(2209-2211)Gct>Act		minichromosome maintenance complex component 8		G	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	106	111	109		2209,2161	5.9	1	20	dbSNP_134	109	14,8586	10.5+/-38.8	0,14,4286	yes	missense,missense	MCM8	NM_032485.4,NM_182802.1	58,58	0,16,6487	AA,AG,GG		0.1628,0.0454,0.123	probably-damaging,probably-damaging	737/841,721/825	5967973	16,12990	2203	4300	6503	SO:0001583	missense	84515				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	g.chr20:5967973G>A	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"REC homolog (Drosophila)"	608187	"chromosome 20 open reading frame 154"	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2209G>A	20.37:g.5967973G>A	ENSP00000368174:p.Ala737Thr					MCM8_ENST00000378886.2_Missense_Mutation_p.A777T|MCM8_ENST00000378883.1_Missense_Mutation_p.A690T|MCM8_ENST00000265187.4_Missense_Mutation_p.A721T	p.A737T	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			17	2586	+			737					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.2209G>A	CCDS13094.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	34	5.293312	0.95546	4.54E-4	0.001628	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.38665	0.1049	M	0.89601	3.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.998	T	0.33650	-0.9860	10	0.62326	D	0.03	-19.9751	18.4246	0.90605	0.0:0.0:1.0:0.0	.	690;777;721;737	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	T	737;690;777;721	ENSP00000368174:A737T;ENSP00000368161:A690T;ENSP00000368164:A777T;ENSP00000265187:A721T	ENSP00000265187:A721T	A	+	1	0	MCM8	5915973	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.685000	0.91246	2.774000	0.95407	0.655000	0.94253	GCT		0.318	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		22	23	0	0	0	1	0	22	23					A	5967973	G	A	5967973	3	1	435	1	0	0	0	0	1	0	0	0	9393	1087	38	1	2271	1	MCM8	20	5967973	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9424	5967973	57057547	8554	29479											
BMP2	650	broad.mit.edu	37	chr20	6750939	6750939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgagcgagttcgagttgCggctgctcagcatgttcggc	5	11	14	11	4	1	1	1	1	0	0	4	3	2	1	1	2	4	6	1	2	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:6750939C>T	ENST00000378827.4	+	2	1385	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	56					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						GTTCGAGTTGCGGCTGCTCAG	0.667																																						ENST00000378827.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						c.(166-168)Cgg>Tgg		bone morphogenetic protein 2	Simvastatin(DB00641)						20	22	21					20																	6750939		2203	4295	6498	SO:0001583	missense	650				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	g.chr20:6750939C>T		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"Bone morphogenetic proteins", "Endogenous ligands"	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.166C>T	20.37:g.6750939C>T	ENSP00000368104:p.Arg56Trp						p.R56W	NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN			2	1385	+			56						Missense_Mutation	SNP	ENST00000378827.4	37	c.166C>T	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081631	0.94050	.	.	ENSG00000125845	ENST00000378827	T	0.67345	-0.26	5.14	4.17	0.49024	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	M	0.85945	2.785	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.85606	0.1255	10	0.66056	D	0.02	.	14.5229	0.67867	0.1525:0.8475:0.0:0.0	.	56	P12643	BMP2_HUMAN	W	56	ENSP00000368104:R56W	ENSP00000368104:R56W	R	+	1	2	BMP2	6698939	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.679000	0.37597	1.215000	0.43411	0.557000	0.71058	CGG		0.667	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			6	12	0	0	0	1	0	6	12					T	6750939	C	T	6750939	3	4	435	1	0	0	0	0	1	0	0	0	1459	759	27	1	168	1	BMP2	20	6750939	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	782966	6750939	56274581	8555	29480											
BMP2	650	broad.mit.edu	37	chr20	6751119	6751119	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcagcttccaccatgaaGgtgaggcatggagcagggcg	9	6	16	10	2	0	2	0	2	0	0	1	3	1	3	2	4	3	4	2	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:6751119G>T	ENST00000378827.4	+	2	1565	c.346G>T	c.(346-348)Gaa>Taa	p.E116*		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	116					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						CCACCATGAAGGTGAGGCATG	0.687																																						ENST00000378827.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						c.e2+1		bone morphogenetic protein 2	Simvastatin(DB00641)						15	17	17					20																	6751119		2177	4272	6449	SO:0001630	splice_region_variant	650				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	g.chr20:6751119G>T		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"Bone morphogenetic proteins", "Endogenous ligands"	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.346+1G>T	20.37:g.6751119G>T							p.E116_splice	NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN			2	1565	+			116						Splice_Site	SNP	ENST00000378827.4	37	c.346_splice	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	G	47	13.048342	0.99715	.	.	ENSG00000125845	ENST00000378827	.	.	.	5.47	4.53	0.55603	.	0.045866	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.9536	0.64133	0.0738:0.0:0.9262:0.0	.	.	.	.	X	116	.	ENSP00000368104:E116X	E	+	1	0	BMP2	6699119	1.000000	0.71417	1.000000	0.80357	0.162000	0.22319	9.759000	0.98931	1.292000	0.44672	-0.145000	0.13849	GAA		0.687	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3		Nonsense_Mutation	11	15	1	0	7.03913e-09	1	7.44699e-09	11	15					T	6751119	G	T	6751119	5	4	435	1	0	0	0	0	0	0	1	0	1459	1014	35	5	348	5	BMP2	20	6751119	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	180	6751119	56274401	8556	29481											
PAK7	57144	broad.mit.edu	37	chr20	9543668	9543668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaatcccgcatgatcaCgacctggggaaacgggaaat	12	7	13	9	3	1	1	1	1	0	0	2	4	2	3	2	4	1	2	2	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:9543668C>T	ENST00000378429.3	-	7	2032	c.1486G>A	c.(1486-1488)Gtg>Atg	p.V496M	PAK7_ENST00000378423.1_Missense_Mutation_p.V496M|PAK7_ENST00000353224.5_Missense_Mutation_p.V496M	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	496	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CGCATGATCACGACCTGGGGA	0.453																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1486-1488)Gtg>Atg		p21 protein (Cdc42/Rac)-activated kinase 7							167	154	158					20																	9543668		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9543668C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1486G>A	20.37:g.9543668C>T	ENSP00000367686:p.Val496Met					PAK7_ENST00000353224.5_Missense_Mutation_p.V496M|PAK7_ENST00000378423.1_Missense_Mutation_p.V496M	p.V496M	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		7	2032	-			496			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1486G>A	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253965	0.80135	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.65364	-0.15;-0.15;-0.15	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67664	0.2917	N	0.16790	0.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.64807	-0.6320	9	.	.	.	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	496;496	B0AZM9;Q9P286	.;PAK7_HUMAN	M	496;496;496;444	ENSP00000367686:V496M;ENSP00000322957:V496M;ENSP00000367679:V496M	.	V	-	1	0	PAK7	9491668	1.000000	0.71417	0.999000	0.59377	0.403000	0.30841	7.747000	0.85070	2.894000	0.99253	0.591000	0.81541	GTG		0.453	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			33	102	0	0	0	1	0	33	102					T	9543668	C	T	9543668	3	4	435	1	0	0	0	0	1	0	0	0	11405	536	19	1	693	1	PAK7	20	9543668	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2792549	9543668	53481852	8557	29482											
JAG1	182	broad.mit.edu	37	chr20	10628675	10628675	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgccctcatagtcctcgggGcacttgcagaaatagtcact	9	11	9	12	1	2	1	2	0	0	1	4	1	3	1	2	2	2	2	2	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:10628675G>A	ENST00000254958.5	-	13	2168	c.1653C>T	c.(1651-1653)tgC>tgT	p.C551C	JAG1_ENST00000423891.2_Silent_p.C392C|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	551	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			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						AGTCCTCGGGGCACTTGCAGA	0.562									Alagille Syndrome																													ENST00000254958.5																			0				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						c.(1651-1653)tgC>tgT		jagged 1							154	132	140					20																	10628675		2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	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	g.chr20:10628675G>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1653C>T	20.37:g.10628675G>A						JAG1_ENST00000423891.2_Silent_p.C392C	p.C551C	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			13	2168	-			551			EGF-like 9.		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.1653C>T	CCDS13112.1																																																																																				0.562	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		16	26	0	0	0	1	0	16	26					A	10628675	G	A	10628675	2	1	435	1	0	0	0	0	0	0	0	1	7934	1195	42	3		3	JAG1	20	10628675	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1085007	10628675	52396845	8558	29483											
TASP1	55617	broad.mit.edu	37	chr20	13604122	13604122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccagtgctgcagtgactgCgtcagttgcaagagcaccgg	9	7	13	12	2	1	2	1	1	0	1	1	2	1	2	2	1	5	5	2	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:13604122C>T	ENST00000337743.4	-	4	373	c.253G>A	c.(253-255)Gca>Aca	p.A85T	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Missense_Mutation_p.A85T|TASP1_ENST00000544472.1_Missense_Mutation_p.A85T	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	85					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						GCAGTGACTGCGTCAGTTGCA	0.363																																						ENST00000337743.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						c.(253-255)Gca>Aca		taspase, threonine aspartase, 1							17	20	19					20																	13604122		2195	4287	6482	SO:0001583	missense	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13604122C>T	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"chromosome 20 open reading frame 13"	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.253G>A	20.37:g.13604122C>T	ENSP00000338624:p.Ala85Thr					TASP1_ENST00000544472.1_Missense_Mutation_p.A85T|TASP1_ENST00000539805.1_Missense_Mutation_p.A85T|TASP1_ENST00000480436.1_5'UTR	p.A85T	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN			4	373	-			85					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	37	c.253G>A	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948984	0.92660	.	.	ENSG00000089123	ENST00000539805;ENST00000337743;ENST00000544472	D	0.89196	-2.48	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.95007	0.8384	M	0.82323	2.585	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.74023	0.982;0.907	D	0.94995	0.8138	10	0.66056	D	0.02	-13.8008	19.7441	0.96245	0.0:1.0:0.0:0.0	.	85;85	B7Z963;Q9H6P5	.;TASP1_HUMAN	T	85	ENSP00000338624:A85T	ENSP00000338624:A85T	A	-	1	0	TASP1	13552122	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.745000	0.68672	2.669000	0.90835	0.585000	0.79938	GCA		0.363	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714		14	17	0	0	0	1	0	14	17					T	13604122	C	T	13604122	3	4	435	1	0	0	0	0	1	0	0	0	15586	768	27	1	1053	1	TASP1	20	13604122	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2975447	13604122	49421398	8559	29484											
MACROD2	140733	broad.mit.edu	37	chr20	14665495	14665495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctttctcccttagtggatgGctgtattcatagagcagccg	7	14	10	10	1	3	1	1	0	2	1	4	2	3	2	2	2	2	3	2	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:14665495G>A	ENST00000310348.4	+	5	308	c.308G>A	c.(307-309)gGc>gAc	p.G103D	MACROD2_ENST00000217246.4_Missense_Mutation_p.G103D|MACROD2_ENST00000464883.1_3'UTR			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	103	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTAGTGGATGGCTGTATTCAT	0.408																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(307-309)gGc>gAc		MACRO domain containing 2							135	125	128					20																	14665495		1862	4098	5960	SO:0001583	missense	140733							g.chr20:14665495G>A	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.308G>A	20.37:g.14665495G>A	ENSP00000309809:p.Gly103Asp					MACROD2_ENST00000310348.4_Missense_Mutation_p.G103D|MACROD2_ENST00000464883.1_3'UTR	p.G103D	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			5	703	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	103			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.308G>A	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978578	0.92982	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.25414	1.8;1.8	5.62	5.62	0.85841	Appr-1-p processing (3);	0.081704	0.46145	D	0.000311	T	0.64875	0.2638	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	T	0.75252	-0.3383	10	0.87932	D	0	-4.5489	18.6571	0.91458	0.0:0.0:1.0:0.0	.	103;103	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	D	103	ENSP00000217246:G103D;ENSP00000309809:G103D	ENSP00000217246:G103D	G	+	2	0	MACROD2	14613495	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.642000	0.89623	0.655000	0.94253	GGC		0.408	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		30	67	0	0	0	1	0	30	67					A	14665495	G	A	14665495	3	1	435	1	0	0	0	0	1	0	0	0	9146	1203	42	3	326	3	MACROD2	20	14665495	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1061373	14665495	48360025	8560	29485											
KIF16B	55614	broad.mit.edu	37	chr20	16359569	16359569	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctcttcaatctccatGcccagggtggagtgcctctg	5	12	10	14	0	5	0	1	0	4	0	6	1	5	1	3	2	3	1	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:16359569G>A	ENST00000354981.2	-	19	3235	c.3078C>T	c.(3076-3078)ggC>ggT	p.G1026G	KIF16B_ENST00000355755.3_Silent_p.G1026G|KIF16B_ENST00000408042.1_Silent_p.G1026G|KIF16B_ENST00000378003.2_Silent_p.G252G	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1026	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			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						CAATCTCCATGCCCAGGGTGG	0.612																																						ENST00000354981.2																			0				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						c.(3076-3078)ggC>ggT		kinesin family member 16B							78	81	80					20																	16359569		2203	4300	6503	SO:0001819	synonymous_variant	55614				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	g.chr20:16359569G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3078C>T	20.37:g.16359569G>A						KIF16B_ENST00000378003.2_Silent_p.G252G|KIF16B_ENST00000408042.1_Silent_p.G1026G|KIF16B_ENST00000355755.3_Silent_p.G1026G	p.G1026G	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	3235	-			1026			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.3078C>T	CCDS13122.1																																																																																				0.612	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		10	49	0	0	0	1	0	10	49					A	16359569	G	A	16359569	2	1	435	1	0	0	0	0	0	0	0	1	8278	1306	46	3		3	KIF16B	20	16359569	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1694074	16359569	46665951	8561	29486											
KIF16B	55614	broad.mit.edu	37	chr20	16387065	16387065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcctttggatggttaaagCgaaacatattggttcttccc	9	15	8	9	1	1	0	0	0	1	0	3	2	3	1	2	3	2	2	2	3	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:16387065C>T	ENST00000354981.2	-	16	1806	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	KIF16B_ENST00000355755.3_Missense_Mutation_p.R550H|KIF16B_ENST00000408042.1_Missense_Mutation_p.R550H|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	550					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			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						ATGGTTAAAGCGAAACATATT	0.463																																						ENST00000354981.2																			0				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						c.(1648-1650)cGc>cAc		kinesin family member 16B							219	198	205					20																	16387065		2203	4300	6503	SO:0001583	missense	55614				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	g.chr20:16387065C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1649G>A	20.37:g.16387065C>T	ENSP00000347076:p.Arg550His					KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.R550H|KIF16B_ENST00000355755.3_Missense_Mutation_p.R550H	p.R550H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			16	1806	-			550					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.1649G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421083	0.96111	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.80653	-1.4;-1.36;-1.36	5.95	5.95	0.96441	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.82481	0.5046	L	0.41824	1.3	0.80722	D	1	D;D;D;D	0.61697	0.99;0.99;0.99;0.983	P;P;P;P	0.51974	0.686;0.686;0.686;0.488	D	0.83861	0.0268	10	0.87932	D	0	.	19.1462	0.93469	0.0:1.0:0.0:0.0	.	550;550;550;550	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	H	550	ENSP00000347076:R550H;ENSP00000347995:R550H;ENSP00000384164:R550H	ENSP00000347076:R550H	R	-	2	0	KIF16B	16335065	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.105000	0.77031	2.817000	0.96982	0.563000	0.77884	CGC		0.463	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		24	66	0	0	0	1	0	24	66					T	16387065	C	T	16387065	3	4	435	1	0	0	0	0	1	0	0	0	8278	768	27	1	2348	1	KIF16B	20	16387065	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27496	16387065	46638455	8562	29487											
KIF16B	55614	broad.mit.edu	37	chr20	16488647	16488647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgagacctgctactgaCgtcgttcatcccagtcgctg	7	10	11	13	3	1	2	1	2	0	1	4	3	2	2	2	1	2	4	2	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:16488647C>T	ENST00000354981.2	-	7	812	c.655G>A	c.(655-657)Gtc>Atc	p.V219I	KIF16B_ENST00000355755.3_Missense_Mutation_p.V219I|KIF16B_ENST00000408042.1_Missense_Mutation_p.V219I|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	219	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			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						CTGCTACTGACGTCGTTCATC	0.493																																						ENST00000354981.2																			0				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						c.(655-657)Gtc>Atc		kinesin family member 16B							251	207	222					20																	16488647		2203	4300	6503	SO:0001583	missense	55614				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	g.chr20:16488647C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.655G>A	20.37:g.16488647C>T	ENSP00000347076:p.Val219Ile					KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.V219I|KIF16B_ENST00000355755.3_Missense_Mutation_p.V219I	p.V219I	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			7	812	-			219			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.655G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619667	0.87460	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.74947	-0.89;-0.89;-0.89	5.84	5.84	0.93424	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	T	0.80412	0.4618	M	0.85197	2.74	0.80722	D	1	P;D;P;P	0.52996	0.87;0.957;0.755;0.794	B;B;B;B	0.42827	0.215;0.399;0.181;0.276	D	0.83933	0.0307	10	0.59425	D	0.04	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	219;219;219;219	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	I	219	ENSP00000347076:V219I;ENSP00000347995:V219I;ENSP00000384164:V219I	ENSP00000347076:V219I	V	-	1	0	KIF16B	16436647	1.000000	0.71417	0.998000	0.56505	0.874000	0.50279	4.071000	0.57556	2.763000	0.94921	0.557000	0.71058	GTC		0.493	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		65	87	0	0	0	1	0	65	87					T	16488647	C	T	16488647	3	4	435	1	0	0	0	0	1	0	0	0	8278	536	19	1	3378	1	KIF16B	20	16488647	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	101582	16488647	46536873	8563	29488											
OTOR	56914	broad.mit.edu	37	chr20	16729588	16729588	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attaacgttaaaaaagggcaGcagatctatgtgtactcaaa	17	10	8	6	1	2	1	1	0	1	1	2	1	2	1	0	1	3	4	0	1	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:16729588G>A	ENST00000246081.2	+	2	236	c.192G>A	c.(190-192)caG>caA	p.Q64Q		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	64	SH3.				cartilage condensation (GO:0001502)|sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						AAAAAGGGCAGCAGATCTATG	0.363																																						ENST00000246081.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(190-192)caG>caA		otoraplin							76	79	78					20																	16729588		2203	4300	6503	SO:0001819	synonymous_variant	56914				sensory perception of sound	extracellular region		g.chr20:16729588G>A	AF233261	CCDS13124.1	20p12.1-p11.23	2005-11-14			ENSG00000125879	ENSG00000125879			8517	protein-coding gene	gene with protein product		606067				10873378	Standard	NM_020157		Approved	MIAL, MIAL1, FDP	uc002wpj.3	Q9NRC9	OTTHUMG00000031931	ENST00000246081.2:c.192G>A	20.37:g.16729588G>A							p.Q64Q	NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN			2	236	+			64			SH3.		D3DW22|Q3MIU6	Silent	SNP	ENST00000246081.2	37	c.192G>A	CCDS13124.1																																																																																				0.363	OTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078108.2			10	54	0	0	0	1	0	10	54					A	16729588	G	A	16729588	2	1	435	1	0	0	0	0	0	0	0	1	11308	962	34	3		3	OTOR	20	16729588	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	240941	16729588	46295932	8564	29489											
POLR3F	10621	broad.mit.edu	37	chr20	18464142	18464142	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtttttgatgactgccaCgaaggtggtgagatttcacc	10	12	12	7	1	1	3	1	3	0	1	1	5	1	3	2	3	1	1	2	3	2	3	rs562828889	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:18464142C>T	ENST00000377603.4	+	9	1271	c.891C>T	c.(889-891)caC>caT	p.H297H	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	297					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)	2						ATGACTGCCACGAAGGTGGTG	0.289													c|||	2	0.000399361	8e-04	0	5008	,	,		16173	0.001		0	False		,,,				2504	0				GBM(69;898 1468 19907 52011)	ENST00000377603.4																			0				breast(2)	2						c.(889-891)caC>caT		polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa							40	38	39					20																	18464142		2203	4299	6502	SO:0001819	synonymous_variant	10621				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr20:18464142C>T	U93869	CCDS13135.1	20p11.23	2013-01-21	2002-08-29		ENSG00000132664	ENSG00000132664		"RNA polymerase subunits"	15763	protein-coding gene	gene with protein product	"RNA polymerase III C39 subunit"		"polymerase (RNA) III (DNA directed) polypeptide F (39 kDa)"			9171375	Standard	NM_006466		Approved	RPC39, RPC6	uc002wqv.3	Q9H1D9	OTTHUMG00000031971	ENST00000377603.4:c.891C>T	20.37:g.18464142C>T						POLR3F_ENST00000462997.1_3'UTR	p.H297H	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN			9	1271	+			297					A8K4C7|O15319	Silent	SNP	ENST00000377603.4	37	c.891C>T	CCDS13135.1																																																																																				0.289	POLR3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078170.2	NM_006466		34	59	0	0	0	1	0	34	59					T	18464142	C	T	18464142	2	4	435	1	0	0	0	0	0	0	0	1	12233	535	19	1		1	POLR3F	20	18464142	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1734554	18464142	44561378	8565	29490											
RBBP9	10741	broad.mit.edu	37	chr20	18470588	18470588	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaaactgcacaatgtaaggGcagttggccttgatcttctc	10	11	9	11	0	2	1	0	1	2	0	3	1	2	1	2	2	2	4	2	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:18470588G>A	ENST00000337227.4	-	5	456	c.381C>T	c.(379-381)tgC>tgT	p.C127C	RBBP9_ENST00000493184.1_5'UTR	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	127					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						CAATGTAAGGGCAGTTGGCCT	0.473																																						ENST00000337227.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						c.(379-381)tgC>tgT		retinoblastoma binding protein 9							74	72	73					20																	18470588		2203	4300	6503	SO:0001819	synonymous_variant	10741					cytoplasm|nucleus	hydrolase activity	g.chr20:18470588G>A	AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"retinoblastoma-binding protein 9"			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.381C>T	20.37:g.18470588G>A						RBBP9_ENST00000493184.1_5'UTR	p.C127C	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN			5	456	-			127					D3DW31|Q5JPH9|Q9H1D8	Silent	SNP	ENST00000337227.4	37	c.381C>T	CCDS13136.1																																																																																				0.473	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	NM_006606		16	27	0	0	0	1	0	16	27					A	18470588	G	A	18470588	2	1	435	1	0	0	0	0	0	0	0	1	13106	1195	42	3		3	RBBP9	20	18470588	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6446	18470588	44554932	8566	29491											
DTD1	92675	broad.mit.edu	37	chr20	18724893	18724893	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcctctgaacgggagccGtagctcaggaggcagaattc	9	8	14	10	2	2	2	1	1	1	1	4	4	3	4	2	3	3	3	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:18724893G>A	ENST00000377452.3	+	5	807	c.627G>A	c.(625-627)ccG>ccA	p.P209P		NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	209					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			large_intestine(4)|lung(1)|ovary(2)	7						AACGGGAGCCGTAGCTCAGGA	0.547																																						ENST00000377452.3																			0				large_intestine(4)|lung(1)|ovary(2)	7						c.(625-627)ccG>ccA		D-tyrosyl-tRNA deacylase 1							55	48	50					20																	18724893		2203	4300	6503	SO:0001819	synonymous_variant	92675				D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds	g.chr20:18724893G>A	AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"chromosome 20 open reading frame 88", "D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.627G>A	20.37:g.18724893G>A							p.P209P	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN			5	807	+			209					A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Silent	SNP	ENST00000377452.3	37	c.627G>A	CCDS13138.1																																																																																				0.547	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078189.3	NM_080820		15	11	0	0	0	1	0	15	11					A	18724893	G	A	18724893	2	1	435	1	0	0	0	0	0	0	0	1	4786	1132	40	1		1	DTD1	20	18724893	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	254305	18724893	44300627	8567	29492											
NAA20	51126	broad.mit.edu	37	chr20	20007509	20007509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctgttgccccagaatttcGacgccttggtttggctgcta	5	14	11	11	2	1	1	0	0	1	1	2	2	1	1	3	2	2	4	3	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:20007509G>A	ENST00000334982.4	+	4	532	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	NAA20_ENST00000398602.2_Missense_Mutation_p.R72Q|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000310450.4_Missense_Mutation_p.R84Q	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	84	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.R84Q(1)		endometrium(3)|lung(2)|prostate(1)	6						CCAGAATTTCGACGCCTTGGT	0.448																																						ENST00000398602.2																			1	Substitution - Missense(1)	p.R84Q(1)	endometrium(1)	endometrium(3)|lung(2)|prostate(1)	6						c.(214-216)cGa>cAa		N(alpha)-acetyltransferase 20, NatB catalytic subunit							192	173	179					20																	20007509		2203	4300	6503	SO:0001583	missense	51126					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	g.chr20:20007509G>A	AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"N(alpha)-acetyltransferase subunits"	15908	protein-coding gene	gene with protein product	"N-acetyltransferase 3 homolog (S. cerevisiae)"	610833	"N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)", "N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)", "N-acetyltransferase 5", "N-acetyltransferase 5 (GCN5-related, putative)"	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	ENST00000334982.4:c.251G>A	20.37:g.20007509G>A	ENSP00000335636:p.Arg84Gln					NAA20_ENST00000310450.4_Missense_Mutation_p.R84Q|NAA20_ENST00000334982.4_Missense_Mutation_p.R84Q|NAA20_ENST00000484480.1_3'UTR	p.R72Q	NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN			4	850	+			84			N-acetyltransferase.		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Missense_Mutation	SNP	ENST00000334982.4	37	c.215G>A	CCDS13141.1	.	.	.	.	.	.	.	.	.	.	G	35	5.503034	0.96371	.	.	ENSG00000173418	ENST00000334982;ENST00000310450;ENST00000398602	T;T;T	0.33216	1.42;1.42;1.42	5.37	5.37	0.77165	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.059447	0.64402	N	0.000003	T	0.57975	0.2090	M	0.80847	2.515	0.80722	D	1	D;D;D	0.69078	0.994;0.997;0.994	D;P;D	0.67548	0.923;0.84;0.952	T	0.60424	-0.7266	9	.	.	.	-11.6391	17.8745	0.88821	0.0:0.0:1.0:0.0	.	72;84;84	A8MZB2;A6NHA3;P61599	.;.;NAA20_HUMAN	Q	84;84;72	ENSP00000335636:R84Q;ENSP00000311027:R84Q;ENSP00000381603:R72Q	.	R	+	2	0	NAA20	19955509	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.000000	0.88501	2.521000	0.84997	0.655000	0.94253	CGA		0.448	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078217.2	NM_016100		54	48	0	0	0	1	0	54	48					A	20007509	G	A	20007509	3	1	435	1	0	0	0	0	1	0	0	0	10120	1058	37	2	286	2	NAA20	20	20007509	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1282616	20007509	43018011	8568	29493											
C20orf26	26074	broad.mit.edu	37	chr20	20071554	20071554	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaattctgaaggaaacttaCggtgaatacttcctggccga	13	10	9	9	2	1	2	0	2	1	0	2	4	2	3	2	3	3	0	2	3	6	4	rs144410560	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:20071554C>T	ENST00000245957.5	+	7	709	c.633C>T	c.(631-633)taC>taT	p.Y211Y	C20orf26_ENST00000451767.2_Silent_p.Y211Y|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Silent_p.Y211Y	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		211										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGGAAACTTACGGTGAATACT	0.433																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(631-633)taC>taT		chromosome 20 open reading frame 26		C	,	0,4406		0,0,2203	200	184	189		633,633	-8.3	0	20	dbSNP_134	189	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	C20orf26	NM_001167816.1,NM_015585.3	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	211/471,211/1238	20071554	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20071554C>T																												ENST00000245957.5:c.633C>T	20.37:g.20071554C>T						C20orf26_ENST00000377306.1_Silent_p.Y211Y|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Silent_p.Y211Y|C20orf26_ENST00000389656.3_5'UTR	p.Y211Y	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	7	709	+			211					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.633C>T	CCDS33447.1																																																																																				0.433	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			55	83	0	0	0	1	0	55	83					T	20071554	C	T	20071554	2	4	435	1	0	0	0	0	0	0	0	1	2106	547	19	1		1	C20orf26	20	20071554	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	64045	20071554	42953966	8569	29494											
INSM1	3642	broad.mit.edu	37	chr20	20349842	20349842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagctgcccggccaacctgGcctcgcaccgccgctggcac	5	5	11	20	4	1	0	1	0	0	0	2	0	1	0	6	3	3	4	6	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:20349842G>A	ENST00000310227.1	+	1	1078	c.931G>A	c.(931-933)Gcc>Acc	p.A311T		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	311					adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		GGCCAACCTGGCCTCGCACCG	0.746																																						ENST00000310227.1																			0				liver(1)|lung(3)|ovary(1)|prostate(1)	6						c.(931-933)Gcc>Acc		insulinoma-associated 1							7	7	7					20																	20349842		2046	4000	6046	SO:0001583	missense	3642				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:20349842G>A		CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.931G>A	20.37:g.20349842G>A	ENSP00000312631:p.Ala311Thr						p.A311T	NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN		READ - Rectum adenocarcinoma(2;0.0649)	1	1078	+			311						Missense_Mutation	SNP	ENST00000310227.1	37	c.931G>A	CCDS13143.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498479	0.85069	.	.	ENSG00000173404	ENST00000310227	T	0.50001	0.76	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.51975	0.1706	N	0.16602	0.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54316	-0.8312	10	0.34782	T	0.22	.	15.9712	0.80024	0.0:0.0:1.0:0.0	.	311	Q01101	INSM1_HUMAN	T	311	ENSP00000312631:A311T	ENSP00000312631:A311T	A	+	1	0	INSM1	20297842	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.268000	0.58883	1.913000	0.55393	0.306000	0.20318	GCC		0.746	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078223.1	NM_002196		3	5	0	0	0	1	0	3	5					A	20349842	G	A	20349842	3	1	435	1	0	0	0	0	1	0	0	0	7771	1203	42	3	933	3	INSM1	20	20349842	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	278288	20349842	42675678	8570	29495											
RALGAPA2	57186	broad.mit.edu	37	chr20	20517421	20517421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacagtgacagcctctgaaCgaggcgcctgcacataagga	12	5	13	11	2	1	2	0	2	1	0	1	5	1	4	2	3	3	1	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:20517421C>T	ENST00000202677.7	-	25	3300	c.3293G>A	c.(3292-3294)cGt>cAt	p.R1098H		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1098					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			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						AGCCTCTGAACGAGGCGCCTG	0.433																																						ENST00000202677.6																			0				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						c.(3292-3294)cGt>cAt		Ral GTPase activating protein, alpha subunit 2 (catalytic)							51	51	51					20																	20517421		1891	4114	6005	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20517421C>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.3293G>A	20.37:g.20517421C>T	ENSP00000202677:p.Arg1098His						p.R1098H	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			25	3435	-			1098					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.3293G>A	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.43|12.43	1.936329|1.936329	0.34189|0.34189	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	T|.	0.79247|.	-1.25|.	5.61|5.61	2.57|2.57	0.30868|0.30868	.|.	0.110120|.	0.64402|.	N|.	0.000012|.	T|T	0.73171|0.73171	0.3553|0.3553	M|M	0.83223|0.83223	2.63|2.63	0.41741|0.41741	D|D	0.989613|0.989613	B;B|.	0.26147|.	0.143;0.143|.	B;B|.	0.29785|.	0.107;0.107|.	T|T	0.71935|0.71935	-0.4442|-0.4442	10|5	0.54805|.	T|.	0.06|.	.|.	10.3241|10.3241	0.43783|0.43783	0.0:0.7861:0.0:0.2139|0.0:0.7861:0.0:0.2139	.|.	936;1098|.	A8MSM5;Q2PPJ7|.	.;RGPA2_HUMAN|.	H|I	1098|915	ENSP00000202677:R1098H|.	ENSP00000202677:R1098H|.	R|V	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20465421|20465421	0.998000|0.998000	0.40836|0.40836	0.434000|0.434000	0.26772|0.26772	0.244000|0.244000	0.25665|0.25665	3.994000|3.994000	0.56994|0.56994	0.296000|0.296000	0.22592|0.22592	0.650000|0.650000	0.86243|0.86243	CGT|GTT		0.433	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		3	11	0	0	0	1	0	3	11					T	20517421	C	T	20517421	3	4	435	1	0	0	0	0	1	0	0	0	13014	536	19	1	2388	1	RALGAPA2	20	20517421	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	167579	20517421	42508099	8571	29496											
RALGAPA2	57186	broad.mit.edu	37	chr20	20618022	20618022	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaccaagtacaggtttgtAgatgtttgttaacttagtaa	12	16	8	5	0	0	1	0	0	0	1	0	1	0	1	1	1	3	6	1	1	7	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:20618022A>G	ENST00000202677.7	-	8	797	c.790T>C	c.(790-792)Tac>Cac	p.Y264H		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	264					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			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						ACAGGTTTGTAGATGTTTGTT	0.318																																						ENST00000202677.6																			0				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						c.(790-792)Tac>Cac		Ral GTPase activating protein, alpha subunit 2 (catalytic)							38	37	37					20																	20618022		1823	4072	5895	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20618022A>G	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.790T>C	20.37:g.20618022A>G	ENSP00000202677:p.Tyr264His						p.Y264H	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			8	932	-			264					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.790T>C	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.484795|4.484795	0.84854|0.84854	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000432524|ENST00000202677;ENST00000424981;ENST00000424490;ENST00000438161	.|T;T;T	.|0.78246	.|-1.16;-1.16;-1.16	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.110851	.|0.64402	.|D	.|0.000005	D|D	0.88370|0.88370	0.6418|0.6418	M|M	0.81497|0.81497	2.545|2.545	0.54753|0.54753	D|D	0.999989|0.999989	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	D|D	0.89972|0.89972	0.4094|0.4094	5|10	.|0.87932	.|D	.|0	.|.	15.9212|15.9212	0.79575|0.79575	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|264	.|Q2PPJ7	.|RGPA2_HUMAN	P|H	115|264;116;116;264	.|ENSP00000202677:Y264H;ENSP00000400901:Y116H;ENSP00000412795:Y264H	.|ENSP00000202677:Y264H	L|Y	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20566022|20566022	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.499000|8.499000	0.90494|0.90494	2.224000|2.224000	0.72417|0.72417	0.528000|0.528000	0.53228|0.53228	CTA|TAC		0.318	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		5	15	0	0	0	1	0	5	15					G	20618022	A	G	20618022	3	3	435	1	0	0	0	0	1	0	0	0	13014	420	15	4	4959	4	RALGAPA2	20	20618022	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	100601	20618022	42407498	8572	29497											
PAX1	5075	broad.mit.edu	37	chr20	21687107	21687107	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaggtgaaccagctgggCggtgtgttcgtcaacggccg	6	7	18	10	5	1	1	1	1	0	0	2	2	1	1	2	5	3	2	2	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:21687107C>T	ENST00000398485.2	+	2	372	c.318C>T	c.(316-318)ggC>ggT	p.G106G	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.G82G	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	106	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						ACCAGCTGGGCGGTGTGTTCG	0.662																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(316-318)ggC>ggT		paired box 1							34	39	37					20																	21687107		2203	4299	6502	SO:0001819	synonymous_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687107C>T		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.318C>T	20.37:g.21687107C>T						PAX1_ENST00000444366.2_Silent_p.G82G|PAX1_ENST00000460221.1_Intron	p.G106G	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			2	372	+			106			Paired.		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.318C>T	CCDS13146.2																																																																																				0.662	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			20	32	0	0	0	1	0	20	32					T	21687107	C	T	21687107	2	4	435	1	0	0	0	0	0	0	0	1	11478	755	27	1		1	PAX1	20	21687107	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1069085	21687107	41338413	8573	29498											
FOXA2	3170	broad.mit.edu	37	chr20	22563481	22563481	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatggagttcatgttggcGtagggggccaggccgcccat	6	9	15	11	2	2	0	2	0	0	0	2	1	2	1	3	5	0	3	3	5	1	3	rs151323690		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:22563481G>A	ENST00000377115.4	-	3	562	c.381C>T	c.(379-381)taC>taT	p.Y127Y	FOXA2_ENST00000419308.2_Silent_p.Y133Y	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	127					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TCATGTTGGCGTAGGGGGCCA	0.751																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(379-381)taC>taT		forkhead box A2			,	0,4392		0,0,2196	25	28	27		399,381	-0.6	1	20	dbSNP_134	27	1,8589		0,1,4294	no	coding-synonymous,coding-synonymous	FOXA2	NM_021784.4,NM_153675.2	,	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	,	133/464,127/458	22563481	1,12981	2196	4295	6491	SO:0001819	synonymous_variant	3170				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	g.chr20:22563481G>A	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.381C>T	20.37:g.22563481G>A						FOXA2_ENST00000319993.4_Silent_p.Y133Y|FOXA2_ENST00000377115.4_Silent_p.Y127Y	p.Y127Y	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	583	-	Lung NSC(19;0.188)		127					Q8WUW4|Q96DF7	Silent	SNP	ENST00000377115.4	37	c.381C>T	CCDS13147.1																																																																																				0.751	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			19	21	0	0	0	1	0	19	21					A	22563481	G	A	22563481	2	1	435	1	0	0	0	0	0	0	0	1	5990	1140	40	1		1	FOXA2	20	22563481	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	876374	22563481	40462039	8574	29499											
SSTR4	6754	broad.mit.edu	37	chr20	23016836	23016836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatcgtgggcaagatgcGcgccgtggccctgcgcgctg	4	7	16	14	6	1	1	1	0	0	1	2	1	1	1	2	2	2	3	2	2	1	0	rs375423682		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:23016836G>A	ENST00000255008.3	+	1	780	c.716G>A	c.(715-717)cGc>cAc	p.R239H	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	239					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			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)					GGCAAGATGCGCGCCGTGGCC	0.642																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(715-717)cGc>cAc		somatostatin receptor 4		G	HIS/ARG	0,4328		0,0,2164	75	85	81		716	2.6	0.9	20		81	1,8553		0,1,4276	no	missense	SSTR4	NM_001052.2	29	0,1,6440	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging	239/389	23016836	1,12881	2164	4277	6441	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016836G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.716G>A	20.37:g.23016836G>A	ENSP00000255008:p.Arg239His					RP4-753D10.3_ENST00000440921.1_RNA	p.R239H	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	780	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		239					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.716G>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316756	0.60524	0.0	1.17E-4	ENSG00000132671	ENST00000255008	T	0.42513	0.97	3.6	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000028	T	0.58061	0.2096	M	0.65320	2	0.38522	D	0.948741	D	0.89917	1.0	D	0.83275	0.996	T	0.62450	-0.6852	10	0.87932	D	0	.	10.6779	0.45797	0.0:0.0:0.807:0.193	.	239	P31391	SSR4_HUMAN	H	239	ENSP00000255008:R239H	ENSP00000255008:R239H	R	+	2	0	SSTR4	22964836	0.989000	0.36119	0.888000	0.34837	0.991000	0.79684	2.616000	0.46376	0.648000	0.30732	0.655000	0.94253	CGC		0.642	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			22	47	0	0	0	1	0	22	47					A	23016836	G	A	23016836	3	1	435	1	0	0	0	0	1	0	0	0	15199	1087	38	1	718	1	SSTR4	20	23016836	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	453355	23016836	40008684	8575	29500											
CD93	22918	broad.mit.edu	37	chr20	23065690	23065690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacatcctgacaggccccCtctccaggaccgcccggctc	6	6	8	21	2	1	1	0	1	1	0	5	2	3	2	7	3	0	1	7	3	0	0	rs541179008		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:23065690C>A	ENST00000246006.4	-	1	1287	c.1140G>T	c.(1138-1140)gaG>gaT	p.E380D		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	380	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			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)					GACAGGCCCCCTCTCCAGGAC	0.632																																						ENST00000246006.4																			0				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						c.(1138-1140)gaG>gaT		CD93 molecule							49	49	49					20																	23065690		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065690C>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1140G>T	20.37:g.23065690C>A	ENSP00000246006:p.Glu380Asp						p.E380D	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1287	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		380			EGF-like 3; calcium-binding (Potential).		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.1140G>T	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	C	0.406	-0.915900	0.02415	.	.	ENSG00000125810	ENST00000246006	T	0.26810	1.71	5.42	-10.8	0.00216	EGF-like calcium-binding (1);	0.972048	0.08442	N	0.945335	T	0.07954	0.0199	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.17899	-1.0354	10	0.16896	T	0.51	-9.1534	1.3591	0.02188	0.2346:0.124:0.2136:0.4277	.	380	Q9NPY3	C1QR1_HUMAN	D	380	ENSP00000246006:E380D	ENSP00000246006:E380D	E	-	3	2	CD93	23013690	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.313000	0.08103	-1.778000	0.01282	-0.873000	0.02984	GAG		0.632	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		12	18	1	0	9.31168e-06	1	9.64599e-06	12	18					A	23065690	C	A	23065690	3	1	435	1	0	0	0	0	1	0	0	0	3047	680	24	5	826	5	CD93	20	23065690	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	48854	23065690	39959830	8576	29501											
C20orf3	57136	broad.mit.edu	37	chr20	24959425	24959425	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatatgtgctatggactcCggtccaacaagttgattttc	10	13	8	10	1	0	1	0	1	0	0	3	2	2	2	3	2	2	2	3	2	5	5	rs144418356		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:24959425C>T	ENST00000217456.2	-	3	596	c.306G>A	c.(304-306)ccG>ccA	p.P102P	APMAP_ENST00000447138.1_Silent_p.P102P	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	102					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										CTATGGACTCCGGTCCAACAA	0.542																																						ENST00000217456.2																			0											c.(304-306)ccG>ccA		adipocyte plasma membrane associated protein		C		0,4406		0,0,2203	73	75	74		306	-1.7	1	20	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C20orf3	NM_020531.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		102/417	24959425	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57136							g.chr20:24959425C>T	AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"chromosome 20 open reading frame 3"	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.306G>A	20.37:g.24959425C>T						APMAP_ENST00000447138.1_Silent_p.P102P	p.P102P	NM_020531.2	NP_065392.1					3	596	-								A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Silent	SNP	ENST00000217456.2	37	c.306G>A	CCDS13166.1	.	.	.	.	.	.	.	.	.	.	C	9.517	1.107160	0.20714	0.0	1.16E-4	ENSG00000101474	ENST00000451442	.	.	.	5.08	-1.67	0.08238	.	.	.	.	.	T	0.50360	0.1611	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41716	-0.9493	4	.	.	.	-13.2427	6.0147	0.19596	0.0:0.3651:0.1367:0.4982	.	.	.	.	Q	87	.	.	R	-	2	0	C20orf3	24907425	0.700000	0.27796	0.996000	0.52242	0.908000	0.53690	-0.251000	0.08818	-0.188000	0.10499	-0.305000	0.09177	CGG		0.542	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531		24	47	0	0	0	1	0	24	47					T	24959425	C	T	24959425	2	4	435	1	0	0	0	0	0	0	0	1	2109	639	23	2		2	C20orf3	20	24959425	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1893735	24959425	38066095	8577	29502											
PYGB	5834	broad.mit.edu	37	chr20	25257937	25257937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaacttggctgagaacatctCcagggtcctgtatccaaatg	11	10	10	10	0	1	1	0	1	1	1	4	3	3	1	3	2	2	2	3	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:25257937C>T	ENST00000216962.4	+	7	940	c.830C>T	c.(829-831)tCc>tTc	p.S277F		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	277					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GAGAACATCTCCAGGGTCCTG	0.572																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(829-831)tCc>tTc		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						157	128	138					20																	25257937		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25257937C>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.830C>T	20.37:g.25257937C>T	ENSP00000216962:p.Ser277Phe						p.S277F	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			7	940	+			277					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.830C>T	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613953	0.87359	.	.	ENSG00000100994	ENST00000216962	D	0.94931	-3.56	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.99572	1.0971	10	0.87932	D	0	-36.8295	16.0807	0.81003	0.0:1.0:0.0:0.0	.	277	P11216	PYGB_HUMAN	F	277	ENSP00000216962:S277F	ENSP00000216962:S277F	S	+	2	0	PYGB	25205937	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.525000	0.81892	2.200000	0.70718	0.563000	0.77884	TCC		0.572	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		13	50	0	0	0	1	0	13	50					T	25257937	C	T	25257937	3	4	435	1	0	0	0	0	1	0	0	0	12860	855	30	3	856	3	PYGB	20	25257937	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	298512	25257937	37767583	8578	29503											
PYGB	5834	broad.mit.edu	37	chr20	25259028	25259028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgctccaggacatcatccGccgcttcaagtcgtccaagt	9	8	8	16	4	2	0	2	0	0	0	6	1	5	1	4	1	0	2	4	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:25259028G>A	ENST00000216962.4	+	8	1039	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	310					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GACATCATCCGCCGCTTCAAG	0.607																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(928-930)cGc>cAc		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						83	77	79					20																	25259028		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25259028G>A		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.929G>A	20.37:g.25259028G>A	ENSP00000216962:p.Arg310His						p.R310H	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			8	1039	+			310					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.929G>A	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916622	0.92249	.	.	ENSG00000100994	ENST00000216962	D	0.94497	-3.44	3.61	3.61	0.41365	.	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	M	0.88377	2.95	0.80722	D	1	D	0.71674	0.998	D	0.65233	0.933	D	0.97772	1.0227	10	0.59425	D	0.04	-24.528	15.4242	0.75038	0.0:0.0:1.0:0.0	.	310	P11216	PYGB_HUMAN	H	310	ENSP00000216962:R310H	ENSP00000216962:R310H	R	+	2	0	PYGB	25207028	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	9.378000	0.97191	2.027000	0.59764	0.462000	0.41574	CGC		0.607	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		9	22	0	0	0	1	0	9	22					A	25259028	G	A	25259028	3	1	435	1	0	0	0	0	1	0	0	0	12860	1087	38	1	959	1	PYGB	20	25259028	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1091	25259028	37766492	8579	29504											
PYGB	5834	broad.mit.edu	37	chr20	25263878	25263878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgccgctggtcagtgacGaggtgttcatcagggacgtg	6	10	16	9	3	3	1	3	1	0	0	3	3	3	2	1	3	2	3	1	3	0	1	rs377297438		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:25263878G>A	ENST00000216962.4	+	13	1695	c.1585G>A	c.(1585-1587)Gag>Aag	p.E529K		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	529					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GGTCAGTGACGAGGTGTTCAT	0.622																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1585-1587)Gag>Aag		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)	G	LYS/GLU	0,4406		0,0,2203	70	62	64		1585	3.7	0.8	20		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	PYGB	NM_002862.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	529/844	25263878	1,13005	2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25263878G>A		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1585G>A	20.37:g.25263878G>A	ENSP00000216962:p.Glu529Lys						p.E529K	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			13	1695	+			529					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.1585G>A	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758802	0.31137	0.0	1.16E-4	ENSG00000100994	ENST00000216962	D	0.93488	-3.23	3.66	3.66	0.41972	.	0.102344	0.64402	D	0.000004	D	0.85923	0.5810	N	0.12831	0.26	0.58432	D	0.999999	B	0.13145	0.007	B	0.11329	0.006	T	0.81564	-0.0875	10	0.27785	T	0.31	-40.4442	15.512	0.75789	0.0:0.0:1.0:0.0	.	529	P11216	PYGB_HUMAN	K	529	ENSP00000216962:E529K	ENSP00000216962:E529K	E	+	1	0	PYGB	25211878	1.000000	0.71417	0.844000	0.33320	0.067000	0.16453	9.492000	0.97957	2.038000	0.60285	0.462000	0.41574	GAG		0.622	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		17	26	0	0	0	1	0	17	26					A	25263878	G	A	25263878	3	1	435	1	0	0	0	0	1	0	0	0	12860	1059	37	2	1635	2	PYGB	20	25263878	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4850	25263878	37761642	8580	29505											
PYGB	5834	broad.mit.edu	37	chr20	25276269	25276269	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttgcagactatgaagcctAcatgcagtgccaggcacagg	11	8	12	10	0	0	2	0	1	0	1	0	2	0	2	2	2	5	4	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:25276269A>G	ENST00000216962.4	+	19	2452	c.2342A>G	c.(2341-2343)tAc>tGc	p.Y781C	ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	781					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						TATGAAGCCTACATGCAGTGC	0.622																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(2341-2343)tAc>tGc		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						85	82	83					20																	25276269		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25276269A>G		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.2342A>G	20.37:g.25276269A>G	ENSP00000216962:p.Tyr781Cys					PYGB_ENST00000471359.1_3'UTR|ABHD12_ENST00000376542.3_Intron	p.Y781C	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			19	2452	+			781					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.2342A>G	CCDS13171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.95|15.95	2.982843|2.982843	0.53827|0.53827	.|.	.|.	ENSG00000100994|ENSG00000100994	ENST00000428458|ENST00000216962	.|D	.|0.96300	.|-3.97	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98460|0.98460	0.9487|0.9487	H|H	0.97415|0.97415	4|4	0.80722|0.80722	D|D	1|1	.|D	.|0.60160	.|0.987	.|P	.|0.57283	.|0.817	D|D	0.99529|0.99529	1.0960|1.0960	5|10	.|0.87932	.|D	.|0	-30.7105|-30.7105	14.1805|14.1805	0.65572|0.65572	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|781	.|P11216	.|PYGB_HUMAN	A|C	200|781	.|ENSP00000216962:Y781C	.|ENSP00000216962:Y781C	T|Y	+|+	1|2	0|0	PYGB|PYGB	25224269|25224269	1.000000|1.000000	0.71417|0.71417	0.081000|0.081000	0.20488|0.20488	0.173000|0.173000	0.22820|0.22820	8.985000|8.985000	0.93487|0.93487	2.086000|2.086000	0.62901|0.62901	0.459000|0.459000	0.35465|0.35465	ACA|TAC		0.622	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		14	17	0	0	0	1	0	14	17					G	25276269	A	G	25276269	3	3	435	1	0	0	0	0	1	0	0	0	12860	391	14	4	2416	4	PYGB	20	25276269	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	12391	25276269	37749251	8581	29506											
NANP	140838	broad.mit.edu	37	chr20	25596943	25596943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagtaggcggacctcctttCgaagttcagtaagcatggct	10	10	12	9	2	1	0	1	0	0	0	3	3	2	1	2	3	1	5	2	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:25596943C>T	ENST00000304788.3	-	2	591	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	122					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate biosynthetic process (GO:0046380)		N-acylneuraminate-9-phosphatase activity (GO:0050124)			endometrium(2)|lung(2)|prostate(1)	5						GACCTCCTTTCGAAGTTCAGT	0.433																																						ENST00000304788.3																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(364-366)cGa>cAa		N-acetylneuraminic acid phosphatase							109	107	107					20																	25596943		2203	4300	6503	SO:0001583	missense	140838				N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity	g.chr20:25596943C>T	AL031673	CCDS13173.1	20p11.1	2006-10-24	2006-01-24	2006-01-24	ENSG00000170191	ENSG00000170191			16140	protein-coding gene	gene with protein product		610763	"chromosome 20 open reading frame 147", "haloacid dehalogenase-like hydrolase domain containing 4"	C20orf147, HDHD4		16237198	Standard	NM_152667		Approved	dJ694B14.3, MGC26833	uc002wuy.3	Q8TBE9	OTTHUMG00000032132	ENST00000304788.3:c.365G>A	20.37:g.25596943C>T	ENSP00000302441:p.Arg122Gln						p.R122Q	NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN			2	591	-			122					B3KP12|Q5JYN8|Q8TE97|Q9Y3N0	Missense_Mutation	SNP	ENST00000304788.3	37	c.365G>A	CCDS13173.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905506	0.52333	.	.	ENSG00000170191	ENST00000304788	T	0.05319	3.46	5.4	3.44	0.39384	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.122798	0.56097	D	0.000031	T	0.10937	0.0267	L	0.56280	1.765	0.44149	D	0.996943	D	0.64830	0.994	P	0.52710	0.707	T	0.23440	-1.0188	10	0.20519	T	0.43	-19.2015	9.0402	0.36314	0.0:0.7689:0.1489:0.0821	.	122	Q8TBE9	NANP_HUMAN	Q	122	ENSP00000302441:R122Q	ENSP00000302441:R122Q	R	-	2	0	NANP	25544943	1.000000	0.71417	0.956000	0.39512	0.942000	0.58702	5.368000	0.66133	0.632000	0.30432	0.485000	0.47835	CGA		0.433	NANP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078457.2	NM_152667		28	37	0	0	0	1	0	28	37					T	25596943	C	T	25596943	3	4	435	1	0	0	0	0	1	0	0	0	10154	884	31	2	385	2	NANP	20	25596943	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	320674	25596943	37428577	8582	29507											
ZNF337	26152	broad.mit.edu	37	chr20	25657081	25657081	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgtgtgttctctcatgCacagtgaggtatgacttact	7	15	10	9	0	2	2	1	2	1	0	3	2	2	2	1	1	2	3	1	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:25657081C>T	ENST00000376436.1	-	4	1382	c.843G>A	c.(841-843)gtG>gtA	p.V281V	RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000538750.1_Silent_p.V249V|ZNF337_ENST00000252979.5_Silent_p.V281V|ZNF337_ENST00000481610.1_5'Flank			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						TTCTCTCATGCACAGTGAGGT	0.498																																						ENST00000376436.1																			0				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						c.(841-843)gtG>gtA		zinc finger protein 337							180	167	171					20																	25657081		2203	4300	6503	SO:0001819	synonymous_variant	26152							g.chr20:25657081C>T		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.843G>A	20.37:g.25657081C>T						RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Silent_p.V281V|ZNF337_ENST00000538750.1_Silent_p.V249V|RP4-694B14.5_ENST00000455791.1_RNA	p.V281V							4	1382	-								B4DSM2|Q9Y3Y5	Silent	SNP	ENST00000376436.1	37	c.843G>A	CCDS13174.1																																																																																				0.498	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			42	85	0	0	0	1	0	42	85					T	25657081	C	T	25657081	2	4	435	1	0	0	0	0	0	0	0	1	17850	697	25	3		3	ZNF337	20	25657081	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	60138	25657081	37368439	8583	29508											
COX4I2	84701	broad.mit.edu	37	chr20	30227798	30227798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccagcgctactaccccatgCcagaagagcccttctgcaca	10	6	7	18	1	1	2	0	0	1	2	1	2	1	2	5	0	6	2	5	0	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:30227798C>T	ENST00000376075.3	+	3	220	c.145C>T	c.(145-147)Cca>Tca	p.P49S	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	49					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CTACCCCATGCCAGAAGAGCC	0.617																																						ENST00000376075.3																			0				breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11						c.(145-147)Cca>Tca		cytochrome c oxidase subunit IV isoform 2 (lung)							74	64	67					20																	30227798		2203	4300	6503	SO:0001583	missense	84701				cellular respiration		cytochrome-c oxidase activity	g.chr20:30227798C>T	AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"Mitochondrial respiratory chain complex / Complex IV"	16232	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit IV-like 2"	607976	"cytochrome c oxidase subunit IV isoform 2"	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.145C>T	20.37:g.30227798C>T	ENSP00000365243:p.Pro49Ser					COX4I2_ENST00000490030.1_3'UTR	p.P49S	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		3	220	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		49					Q6GTF4|Q9H0Z4	Missense_Mutation	SNP	ENST00000376075.3	37	c.145C>T	CCDS13187.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277861	0.80692	.	.	ENSG00000131055	ENST00000376075	T	0.79749	-1.3	4.74	4.74	0.60224	.	0.066064	0.64402	D	0.000010	D	0.88962	0.6580	M	0.84082	2.675	0.54753	D	0.999986	D	0.76494	0.999	D	0.67382	0.951	D	0.90117	0.4196	10	0.66056	D	0.02	-6.3176	13.1003	0.59216	0.0:1.0:0.0:0.0	.	49	Q96KJ9	COX42_HUMAN	S	49	ENSP00000365243:P49S	ENSP00000365243:P49S	P	+	1	0	COX4I2	29691459	1.000000	0.71417	0.992000	0.48379	0.950000	0.60333	5.078000	0.64425	2.452000	0.82932	0.555000	0.69702	CCA		0.617	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609		9	26	0	0	0	1	0	9	26					T	30227798	C	T	30227798	3	4	435	1	0	0	0	0	1	0	0	0	3770	739	26	3	151	3	COX4I2	20	30227798	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4570717	30227798	32797722	8584	29509											
TTLL9	164395	broad.mit.edu	37	chr20	30507689	30507689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcccggtctcaagggaaagGcatcttcctcttccgtaggc	8	9	11	13	2	3	0	1	0	3	0	6	1	5	1	3	4	1	2	3	4	3	3	rs200968357		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:30507689G>A	ENST00000375938.4	+	7	780	c.527G>A	c.(526-528)gGc>gAc	p.G176D	TTLL9_ENST00000310998.4_Missense_Mutation_p.G126D|TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000375934.4_Missense_Mutation_p.G158D|TTLL9_ENST00000375921.2_Intron|TTLL9_ENST00000535842.1_Missense_Mutation_p.G176D			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	176	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			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)			CAAGGGAAAGGCATCTTCCTC	0.622													G|||	1	0.000199681	0	0	5008	,	,		19248	0.001		0	False		,,,				2504	0					ENST00000375938.4																			0				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						c.(526-528)gGc>gAc		tubulin tyrosine ligase-like family, member 9							93	97	96					20																	30507689		1970	4149	6119	SO:0001583	missense	164395				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	g.chr20:30507689G>A	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"Tubulin tyrosine ligase-like family"	16118	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 125"	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.527G>A	20.37:g.30507689G>A	ENSP00000365105:p.Gly176Asp					TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000375934.4_Missense_Mutation_p.G158D|TTLL9_ENST00000375921.2_Intron|TTLL9_ENST00000535842.1_Missense_Mutation_p.G176D|TTLL9_ENST00000310998.4_Missense_Mutation_p.G126D	p.G176D			Q3SXZ7	TTLL9_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		7	780	+			176			TTL.		A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	ENST00000375938.4	37	c.527G>A	CCDS42863.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.4	4.411718	0.83340	.	.	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375935;ENST00000375934	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	4.53	4.53	0.55603	.	0.059364	0.64402	D	0.000002	T	0.56352	0.1979	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69030	-0.5253	10	0.87932	D	0	.	15.996	0.80243	0.0:0.0:1.0:0.0	.	176	Q3SXZ7	TTLL9_HUMAN	D	176;176;126;121;158	ENSP00000365105:G176D;ENSP00000442515:G176D;ENSP00000308980:G126D;ENSP00000365100:G158D	ENSP00000308980:G126D	G	+	2	0	TTLL9	29971350	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.978000	0.88095	2.367000	0.80283	0.462000	0.41574	GGC		0.622	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409		13	27	0	0	0	1	0	13	27					A	30507689	G	A	30507689	3	1	435	1	0	0	0	0	1	0	0	0	16731	1203	42	3	549	3	TTLL9	20	30507689	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	279891	30507689	32517831	8585	29510											
HCK	3055	broad.mit.edu	37	chr20	30659548	30659548	+	Missense_Mutation	SNP	C	C	A																															cagcgccagcccacactgtcCtgtgtacgtgccggatccca																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:30659548C>A	ENST00000520553.1	+	2	329	c.83C>A	c.(82-84)cCt>cAt	p.P28H	HCK_ENST00000518730.1_Missense_Mutation_p.P28H|HCK_ENST00000538448.1_Missense_Mutation_p.P28H|HCK_ENST00000375862.2_Missense_Mutation_p.P49H|HCK_ENST00000375852.2_Missense_Mutation_p.P49H|HCK_ENST00000534862.1_Missense_Mutation_p.P29H	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	49					cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CCACACTGTCCTGTGTACGTG	0.577																																						ENST00000534862.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(85-87)cCt>cAt		hemopoietic cell kinase							103	82	89					20																	30659548		2203	4300	6503	SO:0001583	missense	3055				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	g.chr20:30659548C>A	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.83C>A	20.37:g.30659548C>A	ENSP00000429848:p.Pro28His					HCK_ENST00000518730.1_Missense_Mutation_p.P28H|HCK_ENST00000375862.2_Missense_Mutation_p.P49H|HCK_ENST00000520553.1_Missense_Mutation_p.P28H|HCK_ENST00000375852.2_Missense_Mutation_p.P49H|HCK_ENST00000538448.1_Missense_Mutation_p.P28H	p.P29H	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	449	+			49					A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.86C>A	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	C	9.951	1.220205	0.22457	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.74002	-0.78;-0.78;-0.8;-0.78;-0.8;-0.79	4.28	3.32	0.38043	.	0.656367	0.14400	N	0.321935	T	0.61375	0.2342	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.54146	-0.8337	10	0.48119	T	0.1	.	10.2333	0.43268	0.0:0.7982:0.2018:0.0	.	28;49	P08631-3;P08631	.;HCK_HUMAN	H	29;28;49;28;28;49	ENSP00000444986:P29H;ENSP00000441169:P28H;ENSP00000365022:P49H;ENSP00000429848:P28H;ENSP00000427757:P28H;ENSP00000365012:P49H	ENSP00000365012:P49H	P	+	2	0	HCK	30123209	0.034000	0.19679	0.001000	0.08648	0.040000	0.13550	2.552000	0.45828	1.147000	0.42369	0.305000	0.20034	CCT		0.577	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			8	23	1	0	0.000157383	1	0.000161063	8	23					A	30659548	C	A	30659548	3	1	435	1	0	0	0	0	1	0	0	0	6994	681	24	5	158	5	HCK	20	30659548	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	151859	30659548	32365972	8586	29511	139	2									
HCK	3055	broad.mit.edu	37	chr20	30659555	30659555	+	Silent	SNP	C	C	T																															agcccacactgtcctgtgtaCgtgccggatcccacatccac																								rs112610391	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:30659555C>T	ENST00000520553.1	+	2	336	c.90C>T	c.(88-90)taC>taT	p.Y30Y	HCK_ENST00000518730.1_Silent_p.Y30Y|HCK_ENST00000538448.1_Silent_p.Y30Y|HCK_ENST00000375862.2_Silent_p.Y51Y|HCK_ENST00000375852.2_Silent_p.Y51Y|HCK_ENST00000534862.1_Silent_p.Y31Y	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	51					cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	GTCCTGTGTACGTGCCGGATC	0.582																																						ENST00000534862.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(91-93)taC>taT		hemopoietic cell kinase							94	75	81					20																	30659555		2203	4300	6503	SO:0001819	synonymous_variant	3055				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	g.chr20:30659555C>T	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.90C>T	20.37:g.30659555C>T						HCK_ENST00000518730.1_Silent_p.Y30Y|HCK_ENST00000375862.2_Silent_p.Y51Y|HCK_ENST00000520553.1_Silent_p.Y30Y|HCK_ENST00000375852.2_Silent_p.Y51Y|HCK_ENST00000538448.1_Silent_p.Y30Y	p.Y31Y	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	456	+			51					A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.93C>T	CCDS54455.1																																																																																				0.582	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			18	14	0	0	0	1	0	18	14					T	30659555	C	T	30659555	2	4	435	1	0	0	0	0	0	0	0	1	6994	547	19	1		1	HCK	20	30659555	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7	30659555	32365965	8587	29512	139	2									
PLAGL2	5326	broad.mit.edu	37	chr20	30784255	30784255	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagggcctctgtgggggCtactggaatgcttgatggaa	7	10	17	7	0	1	2	0	2	1	0	1	4	1	4	1	5	2	3	1	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:30784255C>T	ENST00000246229.4	-	3	1755	c.1491G>A	c.(1489-1491)taG>taA	p.*497*		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	0					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			TCTGTGGGGGCTACTGGAATG	0.577																																					Colon(163;15 1893 11280 16306 47518)	ENST00000246229.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1489-1491)taG>taA		pleiomorphic adenoma gene-like 2							47	52	50					20																	30784255		2203	4299	6502	SO:0001819	synonymous_variant	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30784255C>T		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"Zinc fingers, C2H2-type"	9047	protein-coding gene	gene with protein product	"C2H2-type zinc finger protein"	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1491G>A	20.37:g.30784255C>T							p.*497*	NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	1755	-			0					A8K8T5|E1P5M3|Q92584	Silent	SNP	ENST00000246229.4	37	c.1491G>A	CCDS13197.1																																																																																				0.577	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		12	17	0	0	0	1	0	12	17					T	30784255	C	T	30784255	2	4	435	1	0	0	0	0	0	0	0	1	12020	808	28	3		3	PLAGL2	20	30784255	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	124700	30784255	32241265	8588	29513											
PLAGL2	5326	broad.mit.edu	37	chr20	30785232	30785232	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggccttcaggtgctctaGcagggcctgggtactctcaa	6	10	14	11	0	3	0	2	0	2	0	4	0	3	0	2	4	3	3	2	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:30785232G>A	ENST00000246229.4	-	3	778	c.514C>T	c.(514-516)Cta>Tta	p.L172L		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	172					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			AGGTGCTCTAGCAGGGCCTGG	0.632																																					Colon(163;15 1893 11280 16306 47518)	ENST00000246229.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(514-516)Cta>Tta		pleiomorphic adenoma gene-like 2							25	23	24					20																	30785232		2202	4300	6502	SO:0001819	synonymous_variant	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30785232G>A		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"Zinc fingers, C2H2-type"	9047	protein-coding gene	gene with protein product	"C2H2-type zinc finger protein"	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.514C>T	20.37:g.30785232G>A							p.L172L	NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	778	-			172					A8K8T5|E1P5M3|Q92584	Silent	SNP	ENST00000246229.4	37	c.514C>T	CCDS13197.1																																																																																				0.632	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		7	3	0	0	0	1	0	7	3					A	30785232	G	A	30785232	2	1	435	1	0	0	0	0	0	0	0	1	12020	962	34	3		3	PLAGL2	20	30785232	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	977	30785232	32240288	8589	29514											
POFUT1	23509	broad.mit.edu	37	chr20	30803241	30803241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagcccagataagaagaCgtgccccatgaaggtgggtc	12	5	14	10	2	0	4	0	1	0	3	1	5	0	4	3	2	2	0	3	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:30803241C>T	ENST00000375749.3	+	3	478	c.416C>T	c.(415-417)aCg>aTg	p.T139M	POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000375730.3_Missense_Mutation_p.T139M|POFUT1_ENST00000539210.1_Intron	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	139					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GATAAGAAGACGTGCCCCATG	0.577																																						ENST00000375749.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6						c.(415-417)aCg>aTg		protein O-fucosyltransferase 1							67	71	70					20																	30803241		2203	4300	6503	SO:0001583	missense	23509				fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity	g.chr20:30803241C>T	AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"Fucosyltransferases"	14988	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 1"	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.416C>T	20.37:g.30803241C>T	ENSP00000364902:p.Thr139Met					POFUT1_ENST00000375730.3_Missense_Mutation_p.T139M|POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000486717.1_3'UTR	p.T139M	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	478	+			139					A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Missense_Mutation	SNP	ENST00000375749.3	37	c.416C>T	CCDS13198.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646670	0.67358	.	.	ENSG00000101346	ENST00000375749;ENST00000375730	T	0.31247	1.5	5.64	5.64	0.86602	.	0.142966	0.56097	D	0.000021	T	0.49949	0.1587	L	0.57536	1.79	0.80722	D	1	D;D	0.76494	0.991;0.999	P;D	0.63703	0.759;0.917	T	0.47522	-0.9111	10	0.66056	D	0.02	-18.9715	15.2249	0.73342	0.0:0.86:0.14:0.0	.	139;139	Q9H488;Q9H488-2	OFUT1_HUMAN;.	M	139	ENSP00000364902:T139M	ENSP00000364882:T139M	T	+	2	0	POFUT1	30266902	0.990000	0.36364	0.996000	0.52242	0.991000	0.79684	2.690000	0.47001	2.664000	0.90586	0.655000	0.94253	ACG		0.577	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078613.1	NM_015352		14	56	0	0	0	1	0	14	56					T	30803241	C	T	30803241	3	4	435	1	0	0	0	0	1	0	0	0	12183	536	19	1	426	1	POFUT1	20	30803241	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18009	30803241	32222279	8590	29515											
KIF3B	9371	broad.mit.edu	37	chr20	30897908	30897908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacaccatggaaggaatcCgtggtgaccctgaaaaaaga	15	6	10	10	1	0	3	0	2	0	1	1	5	1	5	4	3	1	0	4	3	6	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:30897908C>T	ENST00000375712.3	+	2	495	c.328C>T	c.(328-330)Cgt>Tgt	p.R110C	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	110	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.R110C(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAAGGAATCCGTGGTGACCC	0.463																																						ENST00000375712.3																			1	Substitution - Missense(1)	p.R110C(1)	breast(1)	NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(328-330)Cgt>Tgt		kinesin family member 3B							74	68	70					20																	30897908		2203	4300	6503	SO:0001583	missense	9371				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	g.chr20:30897908C>T	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.328C>T	20.37:g.30897908C>T	ENSP00000364864:p.Arg110Cys						p.R110C	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	495	+			110			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.328C>T	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857657	0.51376	.	.	ENSG00000101350	ENST00000375712	T	0.75050	-0.9	4.95	4.0	0.46444	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.77916	0.4202	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.66979	0.886;0.948	T	0.78682	-0.2109	10	0.54805	T	0.06	.	14.2121	0.65771	0.0:0.9241:0.0:0.0759	.	110;110	B4DYF2;O15066	.;KIF3B_HUMAN	C	110	ENSP00000364864:R110C	ENSP00000364864:R110C	R	+	1	0	KIF3B	30361569	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.063000	0.49978	2.732000	0.93576	0.561000	0.74099	CGT		0.463	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		38	38	0	0	0	1	0	38	38					T	30897908	C	T	30897908	3	4	435	1	0	0	0	0	1	0	0	0	8301	652	23	2	330	2	KIF3B	20	30897908	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	94667	30897908	32127612	8591	29516											
KIF3B	9371	broad.mit.edu	37	chr20	30915393	30915393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcggccagtctcagccGtgggatataagagaccattg	11	8	13	9	2	1	2	1	1	1	1	2	4	1	3	3	2	2	0	3	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:30915393G>A	ENST00000375712.3	+	7	2064	c.1897G>A	c.(1897-1899)Gtg>Atg	p.V633M	KIF3B_ENST00000418717.2_Missense_Mutation_p.V259M	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	633	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGTCTCAGCCGTGGGATATAA	0.517																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1897-1899)Gtg>Atg		kinesin family member 3B							117	105	109					20																	30915393		2203	4300	6503	SO:0001583	missense	9371				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	g.chr20:30915393G>A	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1897G>A	20.37:g.30915393G>A	ENSP00000364864:p.Val633Met					KIF3B_ENST00000418717.2_Missense_Mutation_p.V259M	p.V633M	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		7	2064	+			633			Globular.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.1897G>A	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139901	0.56936	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.75050	-0.9;0.39	5.32	5.32	0.75619	.	0.274240	0.34314	N	0.004068	T	0.64994	0.2649	L	0.31578	0.945	0.49798	D	0.999829	D;B	0.53885	0.963;0.2	B;B	0.44315	0.446;0.046	T	0.63804	-0.6554	10	0.34782	T	0.22	.	12.8454	0.57827	0.0741:0.0:0.9259:0.0	.	259;633	B4DSR5;O15066	.;KIF3B_HUMAN	M	633;259	ENSP00000364864:V633M;ENSP00000406287:V259M	ENSP00000364864:V633M	V	+	1	0	KIF3B	30379054	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	7.347000	0.79356	2.941000	0.99782	0.655000	0.94253	GTG		0.517	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		9	49	0	0	0	1	0	9	49					A	30915393	G	A	30915393	3	1	435	1	0	0	0	0	1	0	0	0	8301	1145	40	1	1919	1	KIF3B	20	30915393	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17485	30915393	32110127	8592	29517											
ASXL1	171023	broad.mit.edu	37	chr20	31021232	31021232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatgggcattttaagaaaCgctctcggccagatctccga	11	9	11	10	3	2	3	0	0	2	3	4	5	2	3	2	2	1	2	2	2	2	2	rs148964601		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31021232C>T	ENST00000375687.4	+	12	1655	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	ASXL1_ENST00000306058.5_Missense_Mutation_p.R406C	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	411	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			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						TTTTAAGAAACGCTCTCGGCC	0.517			"F, N, Mis"		"MDS, CMML"																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"F, N, Mis"	additional sex combs like 1			L			"MDS, CMML"		0				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						c.(1231-1233)Cgc>Tgc		additional sex combs like 1 (Drosophila)		C	CYS/ARG	0,4406		0,0,2203	91	89	90		1231	4.5	1	20	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASXL1	NM_015338.5	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	411/1542	31021232	1,13005	2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021232C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1231C>T	20.37:g.31021232C>T	ENSP00000364839:p.Arg411Cys					ASXL1_ENST00000306058.5_Missense_Mutation_p.R406C	p.R411C	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			12	1655	+			411					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.1231C>T	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904594	0.72868	0.0	1.16E-4	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.17854	2.25;2.25	4.49	4.49	0.54785	.	0.109676	0.64402	D	0.000005	T	0.36991	0.0987	M	0.67953	2.075	0.80722	D	1	D;P	0.89917	1.0;0.931	D;B	0.74348	0.983;0.265	T	0.07214	-1.0784	10	0.62326	D	0.03	-4.4039	11.269	0.49127	0.0:0.9154:0.0:0.0846	.	406;411	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	C	411;411;411;350;406	ENSP00000364839:R411C;ENSP00000305119:R406C	ENSP00000305119:R406C	R	+	1	0	ASXL1	30484893	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.700000	0.61803	2.493000	0.84123	0.655000	0.94253	CGC		0.517	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		26	27	0	0	0	1	0	26	27					T	31021232	C	T	31021232	3	4	435	1	0	0	0	0	1	0	0	0	1066	536	19	1	1283	1	ASXL1	20	31021232	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	105839	31021232	32004288	8593	29518											
ASXL1	171023	broad.mit.edu	37	chr20	31022609	31022609	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgaacacaactactgccGccttatcctctaaatgggga	12	8	8	13	2	1	0	0	0	1	0	2	2	2	1	3	2	5	0	3	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31022609G>A	ENST00000375687.4	+	13	2518	c.2094G>A	c.(2092-2094)ccG>ccA	p.P698P	ASXL1_ENST00000306058.5_Silent_p.P693P	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	698					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			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						AACTACTGCCGCCTTATCCTC	0.587			"F, N, Mis"		"MDS, CMML"																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"F, N, Mis"	additional sex combs like 1			L			"MDS, CMML"		0				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						c.(2092-2094)ccG>ccA		additional sex combs like 1 (Drosophila)							54	47	50					20																	31022609		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022609G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2094G>A	20.37:g.31022609G>A						ASXL1_ENST00000306058.5_Silent_p.P693P	p.P698P	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	2518	+			698					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.2094G>A	CCDS13201.1																																																																																				0.587	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		9	8	0	0	0	1	0	9	8					A	31022609	G	A	31022609	2	1	435	1	0	0	0	0	0	0	0	1	1066	1074	38	1		1	ASXL1	20	31022609	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1377	31022609	32002911	8594	29519											
ASXL1	171023	broad.mit.edu	37	chr20	31025073	31025073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatcatgtgccaaggctgcGgtgcgttctgtcacgatgac	7	11	13	10	3	3	2	2	2	1	0	3	3	3	2	1	2	3	2	1	2	1	1	rs146743741		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31025073G>A	ENST00000375687.4	+	13	4982	c.4558G>A	c.(4558-4560)Ggt>Agt	p.G1520S	ASXL1_ENST00000306058.5_Missense_Mutation_p.G1515S	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1520					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			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						CCAAGGCTGCGGTGCGTTCTG	0.473			"F, N, Mis"		"MDS, CMML"																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"F, N, Mis"	additional sex combs like 1			L			"MDS, CMML"		0				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						c.(4558-4560)Ggt>Agt		additional sex combs like 1 (Drosophila)							146	127	133					20																	31025073		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31025073G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.4558G>A	20.37:g.31025073G>A	ENSP00000364839:p.Gly1520Ser					ASXL1_ENST00000306058.5_Missense_Mutation_p.G1515S	p.G1520S	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	4982	+			1520					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.4558G>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812452	0.90707	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.75260	-0.9;-0.92	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.86871	0.6037	M	0.73598	2.24	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87067	0.2157	10	0.87932	D	0	-16.6291	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1515;1520	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	S	1520;1520;1520;1441;1515	ENSP00000364839:G1520S;ENSP00000305119:G1515S	ENSP00000305119:G1515S	G	+	1	0	ASXL1	30488734	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.203000	0.95033	2.941000	0.99782	0.655000	0.94253	GGT		0.473	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		46	58	0	0	0	1	0	46	58					A	31025073	G	A	31025073	3	1	435	1	0	0	0	0	1	0	0	0	1066	1116	39	2	4614	2	ASXL1	20	31025073	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2464	31025073	32000447	8595	29520											
COMMD7	149951	broad.mit.edu	37	chr20	31294522	31294522	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacccagagttatgaaatcCgcctggacctgcttggctgt	8	11	10	12	1	0	2	0	1	0	1	1	3	1	3	4	2	2	3	4	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31294522C>T	ENST00000278980.6	-	4	887	c.282G>A	c.(280-282)gcG>gcA	p.A94A	COMMD7_ENST00000446419.2_Silent_p.A93A	NM_001099339.1|NM_053041.2	NP_001092809.1|NP_444269.2	Q86VX2	COMD7_HUMAN	COMM domain containing 7	94					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular vesicular exosome (GO:0070062)	NF-kappaB binding (GO:0051059)	p.A94A(1)		breast(1)|endometrium(1)|lung(3)	5						TTATGAAATCCGCCTGGACCT	0.473																																						ENST00000446419.1																			1	Substitution - coding silent(1)	p.A94A(1)	lung(1)	breast(1)|endometrium(1)|lung(3)	5						c.(277-279)gcG>gcA		COMM domain containing 7							77	74	75					20																	31294522		1925	4129	6054	SO:0001819	synonymous_variant	149951				negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding	g.chr20:31294522C>T	AY542162	CCDS42864.1, CCDS46587.1	20q11	2004-03-02	2004-02-13	2004-02-18	ENSG00000149600	ENSG00000149600			16223	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 92"	C20orf92		15799966	Standard	NM_001099339		Approved	dJ1085F17.3	uc002wya.4	Q86VX2	OTTHUMG00000032229	ENST00000278980.6:c.282G>A	20.37:g.31294522C>T						COMMD7_ENST00000278980.6_Silent_p.A94A	p.A93A	NM_001099339.1	NP_001092809.1	Q86VX2	COMD7_HUMAN			4	895	-			94					A2BHJ2|B3KTZ2|Q5JYB0|Q96SI7|Q9BW53	Silent	SNP	ENST00000278980.6	37	c.279G>A	CCDS42864.1																																																																																				0.473	COMMD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078648.2	NM_053041		18	31	0	0	0	1	0	18	31					T	31294522	C	T	31294522	2	4	435	1	0	0	0	0	0	0	0	1	3721	639	23	2		2	COMMD7	20	31294522	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	269449	31294522	31730998	8596	29521											
DNMT3B	1789	broad.mit.edu	37	chr20	31374388	31374388	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccacccgaggccggcagggCcgcaaccatgtggacgagtc	8	4	14	15	4	0	0	0	0	0	0	2	3	1	1	5	4	1	2	5	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31374388C>T	ENST00000328111.2	+	5	708	c.387C>T	c.(385-387)ggC>ggT	p.G129G	DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000201963.3_Silent_p.G141G|DNMT3B_ENST00000344505.4_Silent_p.G129G|DNMT3B_ENST00000348286.2_Silent_p.G129G|DNMT3B_ENST00000353855.2_Silent_p.G129G|DNMT3B_ENST00000456297.2_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	129	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			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						GCCGGCAGGGCCGCAACCATG	0.622																																						ENST00000328111.2																			0				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						c.(385-387)ggC>ggT		DNA (cytosine-5-)-methyltransferase 3 beta							65	63	63					20																	31374388		2203	4300	6503	SO:0001819	synonymous_variant	1789				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	g.chr20:31374388C>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.387C>T	20.37:g.31374388C>T						DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000344505.4_Silent_p.G129G|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000353855.2_Silent_p.G129G|DNMT3B_ENST00000201963.3_Silent_p.G141G|DNMT3B_ENST00000348286.2_Silent_p.G129G	p.G129G	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			5	708	+			129			Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	ENST00000328111.2	37	c.387C>T	CCDS13205.1																																																																																				0.622	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		19	20	0	0	0	1	0	19	20					T	31374388	C	T	31374388	2	4	435	1	0	0	0	0	0	0	0	1	4677	726	26	3		3	DNMT3B	20	31374388	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	79866	31374388	31651132	8597	29522											
DNMT3B	1789	broad.mit.edu	37	chr20	31386391	31386391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcgtcctgcggcgccGgaaggactggaacgtgcgcc	6	6	16	13	6	1	0	1	0	0	0	2	3	2	3	3	5	3	0	3	5	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31386391G>A	ENST00000328111.2	+	15	1937	c.1616G>A	c.(1615-1617)cGg>cAg	p.R539Q	DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R477Q|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R531Q|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R519Q|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R519Q|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R519Q|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R443Q	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	539	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			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						CTGCGGCGCCGGAAGGACTGG	0.642																																						ENST00000328111.2																			0				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						c.(1615-1617)cGg>cAg		DNA (cytosine-5-)-methyltransferase 3 beta							43	48	46					20																	31386391		2203	4300	6503	SO:0001583	missense	1789				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	g.chr20:31386391G>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1616G>A	20.37:g.31386391G>A	ENSP00000328547:p.Arg539Gln					DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R519Q|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R477Q|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R443Q|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R519Q|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R531Q|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R519Q	p.R539Q	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			15	1937	+			539			ADD.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1616G>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	36	5.650408	0.96714	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.76	5.76	0.90799	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.90106	0.6909	M	0.86740	2.835	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.977;0.918;0.918;0.978;0.974;0.978;0.999	D	0.90605	0.4547	10	0.66056	D	0.02	-27.6164	19.3309	0.94288	0.0:0.0:1.0:0.0	.	443;477;238;531;519;519;539	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	Q	539;519;519;477;443;519;531	ENSP00000328547:R539Q;ENSP00000313397:R519Q;ENSP00000337764:R519Q;ENSP00000403169:R477Q;ENSP00000412305:R443Q;ENSP00000345105:R519Q;ENSP00000201963:R531Q	ENSP00000201963:R531Q	R	+	2	0	DNMT3B	30850052	0.999000	0.42202	0.813000	0.32504	0.804000	0.45430	7.937000	0.87672	2.880000	0.98712	0.650000	0.86243	CGG		0.642	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		6	23	0	0	0	1	0	6	23					A	31386391	G	A	31386391	3	1	435	1	0	0	0	0	1	0	0	0	4677	1116	39	2	1710	2	DNMT3B	20	31386391	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12003	31386391	31639129	8598	29523											
SUN5	140732	broad.mit.edu	37	chr20	31571729	31571729	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagatcttcaccttgacCgcactgaaagcccgggccgg	8	8	11	14	3	2	3	1	3	1	1	2	4	2	3	4	2	1	1	4	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31571729C>T	ENST00000356173.3	-	13	1103	c.1011G>A	c.(1009-1011)gcG>gcA	p.A337A	SUN5_ENST00000375523.3_Silent_p.A312A	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	337	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TCACCTTGACCGCACTGAAAG	0.607																																						ENST00000356173.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						c.(1009-1011)gcG>gcA		Sad1 and UNC84 domain containing 5							81	86	84					20																	31571729		2203	4300	6503	SO:0001819	synonymous_variant	140732				spermatogenesis			g.chr20:31571729C>T	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"testis and spermatogenesis related gene 4"	613942	"sperm associated antigen 4-like"	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.1011G>A	20.37:g.31571729C>T						SUN5_ENST00000375523.3_Silent_p.A312A	p.A337A	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN			13	1103	-			337			SUN.		A6NJ82|Q5T9R0	Silent	SNP	ENST00000356173.3	37	c.1011G>A	CCDS13209.1																																																																																				0.607	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		30	51	0	0	0	1	0	30	51					T	31571729	C	T	31571729	2	4	435	1	0	0	0	0	0	0	0	1	15391	639	23	2		2	SUN5	20	31571729	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	185338	31571729	31453791	8599	29524											
SUN5	140732	broad.mit.edu	37	chr20	31575487	31575487	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggatcacgtctgggggCtgtgcgtagttccacagctg	7	10	14	10	2	3	0	2	0	1	0	4	1	4	1	1	3	2	4	1	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31575487C>T	ENST00000356173.3	-	10	800	c.708G>A	c.(706-708)caG>caA	p.Q236Q	SUN5_ENST00000375523.3_Silent_p.Q211Q	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	236	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CGTCTGGGGGCTGTGCGTAGT	0.602																																						ENST00000356173.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						c.(706-708)caG>caA		Sad1 and UNC84 domain containing 5							89	67	74					20																	31575487		2203	4300	6503	SO:0001819	synonymous_variant	140732				spermatogenesis			g.chr20:31575487C>T	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"testis and spermatogenesis related gene 4"	613942	"sperm associated antigen 4-like"	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.708G>A	20.37:g.31575487C>T						SUN5_ENST00000375523.3_Silent_p.Q211Q	p.Q236Q	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN			10	800	-			236			SUN.		A6NJ82|Q5T9R0	Silent	SNP	ENST00000356173.3	37	c.708G>A	CCDS13209.1																																																																																				0.602	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		7	6	0	0	0	1	0	7	6					T	31575487	C	T	31575487	2	4	435	1	0	0	0	0	0	0	0	1	15391	796	28	3		3	SUN5	20	31575487	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3758	31575487	31450033	8600	29525											
C20orf185	359710	broad.mit.edu	37	chr20	31643282	31643282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgctctggggcctggCgactccatgccaggagctgc	4	9	14	14	1	2	0	0	0	2	0	3	2	3	1	3	4	4	3	3	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31643282C>T	ENST00000375494.3	+	1	53	c.53C>T	c.(52-54)gCg>gTg	p.A18V	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	18	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.A18V(1)									TGGGGCCTGGCGACTCCATGC	0.607																																						ENST00000375494.3																			1	Substitution - Missense(1)	p.A18V(1)	pancreas(1)								c.(52-54)gCg>gTg		BPI fold containing family B, member 3							100	95	97					20																	31643282		2203	4300	6503	SO:0001583	missense	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31643282C>T	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.53C>T	20.37:g.31643282C>T	ENSP00000364643:p.Ala18Val						p.A18V	NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN			1	53	+			18			Leu-rich.		Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	c.53C>T	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	C	2.129	-0.399460	0.04865	.	.	ENSG00000186190	ENST00000375494	T	0.01335	5.0	4.9	-9.81	0.00487	.	1.007380	0.07988	N	0.986689	T	0.00875	0.0029	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.49854	-0.8895	10	0.02654	T	1	-4.1004	13.8282	0.63363	0.0:0.1344:0.0973:0.7684	.	18	P59826	BPIB3_HUMAN	V	18	ENSP00000364643:A18V	ENSP00000364643:A18V	A	+	2	0	BPIFB3	31106943	0.000000	0.05858	0.001000	0.08648	0.721000	0.41392	-2.884000	0.00713	-2.418000	0.00566	-1.786000	0.00637	GCG		0.607	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		8	41	0	0	0	1	0	8	41					T	31643282	C	T	31643282	3	4	435	1	0	0	0	0	1	0	0	0	2097	768	27	1	55	1	C20orf185	20	31643282	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	67795	31643282	31382238	8601	29526											
C20orf185	359710	broad.mit.edu	37	chr20	31652621	31652621	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactcctgcagaccaacggCgccctcgacatggacatcac	10	5	10	16	3	1	1	1	0	0	1	3	4	2	3	3	3	2	1	3	3	1	0	rs199598368	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31652621C>T	ENST00000375494.3	+	8	894	c.894C>T	c.(892-894)ggC>ggT	p.G298G		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	298					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGACCAACGGCGCCCTCGACA	0.617													C|||	3	0.000599042	0	0.0014	5008	,	,		18643	0.002		0	False		,,,				2504	0					ENST00000375494.3																			0											c.(892-894)ggC>ggT		BPI fold containing family B, member 3							63	53	56					20																	31652621		2203	4300	6503	SO:0001819	synonymous_variant	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31652621C>T	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.894C>T	20.37:g.31652621C>T							p.G298G	NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN			8	894	+			298					Q5TDX7	Silent	SNP	ENST00000375494.3	37	c.894C>T	CCDS13212.1																																																																																				0.617	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		5	27	0	0	0	1	0	5	27					T	31652621	C	T	31652621	2	4	435	1	0	0	0	0	0	0	0	1	2097	755	27	1		1	C20orf185	20	31652621	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9339	31652621	31372899	8602	29527											
C20orf114	92747	broad.mit.edu	37	chr20	31889214	31889214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcatggtcctgttggactCtgtggtaaacctcagcacaa	10	12	9	10	0	3	0	2	0	1	0	4	1	4	1	2	3	2	3	2	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31889214C>T	ENST00000253354.1	+	9	1084	c.923C>T	c.(922-924)tCt>tTt	p.S308F	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	308					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CTGTTGGACTCTGTGGTAAAC	0.542																																						ENST00000253354.1																			0											c.(922-924)tCt>tTt		BPI fold containing family B, member 1							82	72	76					20																	31889214		2203	4300	6503	SO:0001583	missense	92747					extracellular space	lipid binding	g.chr20:31889214C>T	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"BPI fold containing"	16108	protein-coding gene	gene with protein product	"von Ebner minor salivary gland protein"		"chromosome 20 open reading frame 114"	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.923C>T	20.37:g.31889214C>T	ENSP00000253354:p.Ser308Phe					BPIFB1_ENST00000464032.1_3'UTR	p.S308F	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN			9	1084	+			308					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.923C>T	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	C	1.362	-0.588524	0.03799	.	.	ENSG00000125999	ENST00000253354;ENST00000375378	T	0.06687	3.27	4.81	-5.49	0.02584	.	0.955334	0.08672	N	0.910714	T	0.05090	0.0136	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.44314	-0.9336	10	0.24483	T	0.36	-0.764	7.1904	0.25822	0.2013:0.4898:0.0:0.3089	.	308	Q8TDL5	BPIB1_HUMAN	F	308;139	ENSP00000253354:S308F	ENSP00000253354:S308F	S	+	2	0	BPIFB1	31352875	0.000000	0.05858	0.038000	0.18304	0.140000	0.21249	-0.672000	0.05244	-0.664000	0.05324	-0.538000	0.04264	TCT		0.542	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		17	28	0	0	0	1	0	17	28					T	31889214	C	T	31889214	3	4	435	1	0	0	0	0	1	0	0	0	2082	913	32	3	953	3	C20orf114	20	31889214	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	236593	31889214	31136306	8603	29528											
SNTA1	6640	broad.mit.edu	37	chr20	31998065	31998065	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccacaccgtgacgcgtGcccgtgcgcagggcaaaaga	9	5	14	13	5	0	2	0	1	0	1	1	2	1	2	3	1	2	2	3	1	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31998065G>A	ENST00000217381.2	-	6	1384	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	371	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CGTGACGCGTGCCCGTGCGCA	0.672																																						ENST00000217381.2																			0				breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						c.(1111-1113)ggC>ggT		syntrophin, alpha 1							36	31	33					20																	31998065		2203	4300	6503	SO:0001819	synonymous_variant	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:31998065G>A	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"pro-TGF-alpha cytoplasmic domain-interacting protein 1", "dystrophin-associated protein A1, 59kDa, acidic component"	601017	"syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.1113C>T	20.37:g.31998065G>A							p.G371G	NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN			6	1384	-			371			PH 2.		A8K7H9|B4DX40|E1P5N1|Q16438	Silent	SNP	ENST00000217381.2	37	c.1113C>T	CCDS13220.1																																																																																				0.672	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098		9	7	0	0	0	1	0	9	7					A	31998065	G	A	31998065	2	1	435	1	0	0	0	0	0	0	0	1	14871	1306	46	3		3	SNTA1	20	31998065	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	108851	31998065	31027455	8604	29529											
CBFA2T2	9139	broad.mit.edu	37	chr20	32211077	32211077	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctcatggaggtgcacggaAatgggaagaggcccagtcca	11	6	15	9	1	1	1	1	0	0	1	2	4	2	4	2	5	2	2	2	5	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:32211077A>G	ENST00000346541.3	+	6	1231	c.694A>G	c.(694-696)Aat>Gat	p.N232D	CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.N232D|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.N203D|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.N203D|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.N203D|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.N223D|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.N203D|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.N242D	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	232					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GGTGCACGGAAATGGGAAGAG	0.552																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(694-696)Aat>Gat		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							123	119	120					20																	32211077		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32211077A>G	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"Zinc fingers, MYND-type"	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.694A>G	20.37:g.32211077A>G	ENSP00000262653:p.Asn232Asp					CBFA2T2_ENST00000359606.3_Missense_Mutation_p.N242D|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.N232D|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.N203D|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.N203D|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.N223D|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.N203D	p.N232D	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			6	1231	+			232					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.694A>G	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.872307	0.72180	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000344201;ENST00000346541;ENST00000397800;ENST00000397798;ENST00000359606	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.81;1.39	6.02	6.02	0.97574	.	0.192961	0.56097	D	0.000038	T	0.47728	0.1461	M	0.64404	1.975	0.80722	D	1	P;P	0.39250	0.665;0.545	B;B	0.35114	0.157;0.196	T	0.53690	-0.8403	10	0.72032	D	0.01	-14.4014	16.5494	0.84464	1.0:0.0:0.0:0.0	.	232;223	O43439;F8W6D7	MTG8R_HUMAN;.	D	6;232;223;203;232;203;203;242	ENSP00000364428:N232D;ENSP00000345810:N223D;ENSP00000262653:N232D;ENSP00000380902:N203D;ENSP00000352622:N242D	ENSP00000345810:N223D	N	+	1	0	CBFA2T2	31674738	0.689000	0.27690	0.984000	0.44739	0.573000	0.36030	2.820000	0.48057	2.299000	0.77371	0.528000	0.53228	AAT		0.552	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		11	18	0	0	0	1	0	11	18					G	32211077	A	G	32211077	3	3	435	1	0	0	0	0	1	0	0	0	2697	14	1	4	750	4	CBFA2T2	20	32211077	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	213012	32211077	30814443	8605	29530											
E2F1	1869	broad.mit.edu	37	chr20	32264549	32264549	+	Frame_Shift_Del	DEL	G	G	-																															caagccctgtcagaaatccaGgggggtgaggtccccaaagt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:32264549delG	ENST00000343380.5	-	7	1442	c.1303delC	c.(1303-1305)ctgfs	p.L435fs	RP1-63M2.5_ENST00000606866.1_RNA|NECAB3_ENST00000246190.6_5'Flank|NECAB3_ENST00000375238.4_5'Flank	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	435	Transactivation.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						CAGAAATCCAGGGGGGTGAGG	0.642																																						ENST00000343380.5																			0				NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1303-1305)tgfs		E2F transcription factor 1							22	19	20					20																	32264549		2201	4300	6501	SO:0001589	frameshift_variant	1869				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	g.chr20:32264549delG		CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.1303delC	20.37:g.32264549delG	ENSP00000345571:p.Leu435fs						p.L435fs	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN			7	1442	-			435			Transactivation.		Q13143|Q92768	Frame_Shift_Del	DEL	ENST00000343380.5	37	c.1303delC	CCDS13224.1																																																																																				0.642	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078731.2			5	4						5	4	---	---	---	---	-	32264549	G	-	32264549	7	5	435	1	0	1	0	1	0	0	0	0	4866	991	35	0	14	0	E2F1	20	32264549	Frame_Shift_Del	DEL	G	TCGA-XK-AAIW-01A-11D-A41K-08	53472	32264549	30760971	8606	29531											
E2F1	1869	broad.mit.edu	37	chr20	32267636	32267636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttggtgatgtcatagatgCgccgcttctgcaccttcagc	6	12	11	12	3	3	2	2	1	1	1	3	2	3	2	2	1	3	3	2	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:32267636C>T	ENST00000343380.5	-	3	636	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	166	Interaction with BIRC2/c-IAP1.|Leucine-zipper.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						GTCATAGATGCGCCGCTTCTG	0.592																																						ENST00000343380.5																			0				NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(496-498)cGc>cAc		E2F transcription factor 1							178	148	158					20																	32267636		2203	4300	6503	SO:0001583	missense	1869				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	g.chr20:32267636C>T		CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.497G>A	20.37:g.32267636C>T	ENSP00000345571:p.Arg166His						p.R166H	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN			3	636	-			166			Leucine-zipper.		Q13143|Q92768	Missense_Mutation	SNP	ENST00000343380.5	37	c.497G>A	CCDS13224.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201519	0.94997	.	.	ENSG00000101412	ENST00000343380	T	0.65916	-0.18	4.72	4.72	0.59763	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.87354	0.6156	H	0.98577	4.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92226	0.5788	10	0.87932	D	0	-12.7834	16.9679	0.86291	0.0:1.0:0.0:0.0	.	166	Q01094	E2F1_HUMAN	H	166	ENSP00000345571:R166H	ENSP00000345571:R166H	R	-	2	0	E2F1	31731297	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.609000	0.82925	2.608000	0.88229	0.462000	0.41574	CGC		0.592	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078731.2			42	7	0	0	0	1	0	42	7					T	32267636	C	T	32267636	3	4	435	1	0	0	0	0	1	0	0	0	4866	768	27	1	836	1	E2F1	20	32267636	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3087	32267636	30757884	8607	29532											
RALY	22913	broad.mit.edu	37	chr20	32660076	32660076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttcagtactccaatgagCgccatgcccgggcagctgtg	7	10	12	12	2	1	1	1	1	0	0	2	1	2	1	3	1	4	4	3	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:32660076C>T	ENST00000246194.3	+	3	698	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	RALY_ENST00000493399.1_Intron|RALY_ENST00000375114.3_Missense_Mutation_p.R66C	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	66	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CTCCAATGAGCGCCATGCCCG	0.547																																						ENST00000375114.3																			0				kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(196-198)Cgc>Tgc		RALY heterogeneous nuclear ribonucleoprotein							64	65	65					20																	32660076		2203	4300	6503	SO:0001583	missense	22913					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr20:32660076C>T	AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"RNA binding motif (RRM) containing"	15921	protein-coding gene	gene with protein product		614663	"RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)", "RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.196C>T	20.37:g.32660076C>T	ENSP00000246194:p.Arg66Cys					RALY_ENST00000246194.3_Missense_Mutation_p.R66C|RALY_ENST00000493399.1_Intron	p.R66C	NM_007367.3	NP_031393.2	Q9UKM9	RALY_HUMAN			3	774	+			66			RRM.		Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	ENST00000246194.3	37	c.196C>T	CCDS13230.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008732	0.75046	.	.	ENSG00000125970	ENST00000375114;ENST00000448364;ENST00000246194;ENST00000413297;ENST00000442805	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	5.45	5.45	0.79879	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.06058	-1.0848	10	0.87932	D	0	-15.2722	13.9294	0.63986	0.2573:0.7427:0.0:0.0	.	66;66	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	C	66	ENSP00000364255:R66C;ENSP00000413638:R66C;ENSP00000246194:R66C;ENSP00000403744:R66C;ENSP00000415973:R66C	ENSP00000246194:R66C	R	+	1	0	RALY	32123737	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.193000	0.32162	2.833000	0.97629	0.585000	0.79938	CGC		0.547	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1			16	30	0	0	0	1	0	16	30					T	32660076	C	T	32660076	3	4	435	1	0	0	0	0	1	0	0	0	13019	768	27	1	198	1	RALY	20	32660076	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	392440	32660076	30365444	8608	29533											
AHCY	191	broad.mit.edu	37	chr20	32873427	32873427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcgcccattcttcaacCgataccggtccacctacacg	8	8	8	17	5	2	0	1	0	1	0	3	1	3	0	5	2	4	0	5	2	3	4	rs116262714		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:32873427C>T	ENST00000217426.2	-	9	1063	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	CTD-3216D2.5_ENST00000609218.1_RNA|AHCY_ENST00000538132.1_Missense_Mutation_p.R301Q	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	329					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATTCTTCAACCGATACCGGTC	0.637													C|||	1	0.000199681	8e-04	0	5008	,	,		15203	0		0	False		,,,				2504	0					ENST00000538132.1																			0				endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(901-903)cGg>cAg		adenosylhomocysteinase							55	46	49					20																	32873427		2203	4300	6503	SO:0001583	missense	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32873427C>T	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"S-adenosylhomocysteine hydrolase"			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.986G>A	20.37:g.32873427C>T	ENSP00000217426:p.Arg329Gln					AHCY_ENST00000217426.2_Missense_Mutation_p.R329Q	p.R301Q	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN			9	1288	-			329					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	37	c.902G>A	CCDS13233.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	3.829	-0.036144	0.07497	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	T;T	0.76709	-1.04;-1.03	5.01	-8.72	0.00845	S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	2.313190	0.01323	N	0.010993	T	0.55513	0.1925	N	0.20881	0.62	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40079	-0.9582	10	0.21540	T	0.41	.	1.9096	0.03284	0.479:0.1192:0.1353:0.2664	.	329	P23526	SAHH_HUMAN	Q	329;301	ENSP00000217426:R329Q;ENSP00000442820:R301Q	ENSP00000217426:R329Q	R	-	2	0	AHCY	32337088	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.408000	0.07169	-1.141000	0.02873	-0.314000	0.08810	CGG		0.637	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		9	19	0	0	0	1	0	9	19					T	32873427	C	T	32873427	3	4	435	1	0	0	0	0	1	0	0	0	409	652	23	2	320	2	AHCY	20	32873427	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	213351	32873427	30152093	8609	29534											
ITCH	83737	broad.mit.edu	37	chr20	32981637	32981637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtctgacagtggatcacAacttggttcaatgggtagcc	10	12	11	8	0	3	1	2	1	1	0	3	2	3	2	1	3	2	2	1	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:32981637A>G	ENST00000262650.6	+	3	156	c.20A>G	c.(19-21)cAa>cGa	p.Q7R	ITCH_ENST00000535650.1_5'UTR|ITCH_ENST00000374864.4_Missense_Mutation_p.Q7R			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	7	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGTGGATCACAACTTGGTTCA	0.378																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(19-21)cAa>cGa		itchy E3 ubiquitin protein ligase							185	161	169					20																	32981637		2203	4300	6503	SO:0001583	missense	83737				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	g.chr20:32981637A>G	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"itchy (mouse homolog) E3 ubiquitin protein ligase", "itchy E3 ubiquitin protein ligase homolog (mouse)"			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.20A>G	20.37:g.32981637A>G	ENSP00000262650:p.Gln7Arg					ITCH_ENST00000535650.1_5'UTR|ITCH_ENST00000262650.6_Missense_Mutation_p.Q7R	p.Q7R	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			3	233	+			7			C2.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.20A>G	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	A	3.708	-0.060113	0.07317	.	.	ENSG00000078747	ENST00000374864;ENST00000262650	T;T	0.27402	1.67;2.08	5.07	3.94	0.45596	.	4.215730	0.00639	N	0.000513	T	0.07503	0.0189	N	0.00116	-2.08	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.55354	-0.8154	10	0.02654	T	1	.	8.0318	0.30470	0.8964:0.0:0.1035:0.0	.	7;7	Q96J02;Q5QP37	ITCH_HUMAN;.	R	7	ENSP00000363998:Q7R;ENSP00000262650:Q7R	ENSP00000262650:Q7R	Q	+	2	0	ITCH	32445298	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.944000	0.40263	2.129000	0.65627	0.533000	0.62120	CAA		0.378	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			50	99	0	0	0	1	0	50	99					G	32981637	A	G	32981637	3	3	435	1	0	0	0	0	1	0	0	0	7868	130	5	4	22	4	ITCH	20	32981637	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	108210	32981637	30043883	8610	29535											
GGT7	2686	broad.mit.edu	37	chr20	33440320	33440320	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagtcattgatatggccccgGaggtaggcggcctccacctt	7	9	13	12	2	1	1	1	1	0	0	2	3	2	2	5	5	0	1	5	5	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:33440320G>A	ENST00000336431.5	-	11	1385	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	GGT7_ENST00000469018.1_5'Flank	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	447					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TATGGCCCCGGAGGTAGGCGG	0.577																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(1339-1341)ctC>ctT		gamma-glutamyltransferase 7							36	39	38					20																	33440320		2203	4300	6503	SO:0001819	synonymous_variant	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33440320G>A	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1341C>T	20.37:g.33440320G>A							p.L447L	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			11	1385	-			447					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	ENST00000336431.5	37	c.1341C>T	CCDS13242.2																																																																																				0.577	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		8	46	0	0	0	1	0	8	46					A	33440320	G	A	33440320	2	1	435	1	0	0	0	0	0	0	0	1	6364	1161	41	3		3	GGT7	20	33440320	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	458683	33440320	29585200	8611	29536											
GGT7	2686	broad.mit.edu	37	chr20	33447281	33447281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtgaggttgccacctgCgtagaaggcagccgggccgg	7	6	17	11	3	0	2	0	1	0	1	0	2	0	2	4	4	3	3	4	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:33447281C>T	ENST00000336431.5	-	7	1023	c.979G>A	c.(979-981)Gca>Aca	p.A327T		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	327					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TTGCCACCTGCGTAGAAGGCA	0.662																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(979-981)Gca>Aca		gamma-glutamyltransferase 7							31	30	30					20																	33447281		2203	4300	6503	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33447281C>T	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.979G>A	20.37:g.33447281C>T	ENSP00000338964:p.Ala327Thr						p.A327T	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			7	1023	-			327					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.979G>A	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	C	3.694	-0.063012	0.07273	.	.	ENSG00000131067	ENST00000336431	T	0.05925	3.37	5.84	2.57	0.30868	.	0.667620	0.15177	N	0.276318	T	0.02119	0.0066	N	0.01493	-0.835	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.14023	0.01;0.006	T	0.48536	-0.9027	10	0.11182	T	0.66	-15.8471	7.5443	0.27757	0.0:0.568:0.0:0.432	.	327;327	A4FU32;Q9UJ14	.;GGT7_HUMAN	T	327	ENSP00000338964:A327T	ENSP00000338964:A327T	A	-	1	0	GGT7	32910942	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.604000	0.24164	0.256000	0.21614	0.561000	0.74099	GCA		0.662	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		6	5	0	0	0	1	0	6	5					T	33447281	C	T	33447281	3	4	435	1	0	0	0	0	1	0	0	0	6364	768	27	1	1045	1	GGT7	20	33447281	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6961	33447281	29578239	8612	29537											
EDEM2	55741	broad.mit.edu	37	chr20	33722573	33722573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaccggctctcccagaggcGcatcaaagccactctggcca	9	6	10	16	2	3	2	1	1	2	1	4	2	3	2	4	3	1	2	4	3	1	0	rs368321216		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:33722573G>A	ENST00000374492.3	-	6	775	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C	EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000540582.1_Missense_Mutation_p.R183C|EDEM2_ENST00000374491.3_Missense_Mutation_p.R187C	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	224					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TCCCAGAGGCGCATCAAAGCC	0.572													G|||	1	0.000199681	8e-04	0	5008	,	,		18434	0		0	False		,,,				2504	0				Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000540582.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(547-549)Cgc>Tgc		ER degradation enhancer, mannosidase alpha-like 2		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	82	74	77		559,670	4.9	1	20		77	0,8600		0,0,4300	no	missense,missense	EDEM2	NM_001145025.1,NM_018217.2	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	187/542,224/579	33722573	1,13005	2203	4300	6503	SO:0001583	missense	55741				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	g.chr20:33722573G>A	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"chromosome 20 open reading frame 31"	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.670C>T	20.37:g.33722573G>A	ENSP00000363616:p.Arg224Cys					EDEM2_ENST00000374491.2_Missense_Mutation_p.R187C|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374492.3_Missense_Mutation_p.R224C|EDEM2_ENST00000541621.1_5'UTR	p.R183C			Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		10	1268	-			224					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	37	c.547C>T	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.693924	0.68386	2.27E-4	0.0	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000540582	T;T;T	0.42900	0.96;0.96;0.96	5.87	4.86	0.63082	.	0.190596	0.56097	D	0.000034	T	0.39253	0.1071	L	0.38175	1.15	0.48087	D	0.999587	P;P;P	0.52577	0.954;0.881;0.903	B;P;P	0.48677	0.174;0.451;0.586	T	0.17561	-1.0365	10	0.72032	D	0.01	-17.2399	9.4491	0.38714	0.0:0.3132:0.5683:0.1185	.	183;187;224	F5GZ44;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	C	187;224;183	ENSP00000363615:R187C;ENSP00000363616:R224C;ENSP00000441548:R183C	ENSP00000363615:R187C	R	-	1	0	EDEM2	33186234	0.996000	0.38824	1.000000	0.80357	0.972000	0.66771	2.892000	0.48625	2.941000	0.99782	0.655000	0.94253	CGC		0.572	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		8	19	0	0	0	1	0	8	19					A	33722573	G	A	33722573	3	1	435	1	0	0	0	0	1	0	0	0	4912	1087	38	1	1090	1	EDEM2	20	33722573	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	275292	33722573	29302947	8613	29538											
PROCR	10544	broad.mit.edu	37	chr20	33762558	33762558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccgcgacccctatcacGtgtggtaccagggcaacgcg	8	7	11	15	5	1	0	1	0	0	0	2	1	2	0	4	2	2	2	4	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:33762558G>A	ENST00000216968.4	+	2	206	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	42					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CCCCTATCACGTGTGGTACCA	0.632																																						ENST00000216968.4																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(124-126)Gtg>Atg		protein C receptor, endothelial	Drotrecogin alfa(DB00055)						103	95	98					20																	33762558		2203	4300	6503	SO:0001583	missense	10544				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	g.chr20:33762558G>A	L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"CD molecules"	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.124G>A	20.37:g.33762558G>A	ENSP00000216968:p.Val42Met					EDEM2_ENST00000540582.1_Intron	p.V42M	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0152)		2	206	+			42					B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	ENST00000216968.4	37	c.124G>A	CCDS13248.1	.	.	.	.	.	.	.	.	.	.	g	28.7	4.945868	0.92593	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	D	0.83163	-1.69	5.49	5.49	0.81192	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.220120	0.31697	N	0.007213	D	0.90280	0.6960	M	0.76574	2.34	0.38603	D	0.950704	D	0.89917	1.0	D	0.74023	0.982	D	0.92024	0.5628	10	0.87932	D	0	.	14.8787	0.70516	0.0:0.0:1.0:0.0	.	42	Q9UNN8	EPCR_HUMAN	M	42	ENSP00000216968:V42M	ENSP00000216968:V42M	V	+	1	0	PROCR	33226219	0.994000	0.37717	0.995000	0.50966	0.771000	0.43674	3.147000	0.50639	2.592000	0.87571	0.556000	0.70494	GTG		0.632	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3			29	45	0	0	0	1	0	29	45					A	33762558	G	A	33762558	3	1	435	1	0	0	0	0	1	0	0	0	12547	1145	40	1	130	1	PROCR	20	33762558	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	39985	33762558	29262962	8614	29539											
PROCR	10544	broad.mit.edu	37	chr20	33764034	33764034	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagggctctagagcccatgTcttcttcgaagtggctgtga	7	11	13	10	2	3	2	0	1	3	1	4	4	3	2	1	2	1	2	1	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:33764034T>C	ENST00000216968.4	+	3	468	c.386T>C	c.(385-387)gTc>gCc	p.V129A	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	129					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	AGAGCCCATGTCTTCTTCGAA	0.602																																						ENST00000216968.4																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(385-387)gTc>gCc		protein C receptor, endothelial	Drotrecogin alfa(DB00055)						81	82	82					20																	33764034		2203	4300	6503	SO:0001583	missense	10544				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	g.chr20:33764034T>C	L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"CD molecules"	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.386T>C	20.37:g.33764034T>C	ENSP00000216968:p.Val129Ala					EDEM2_ENST00000540582.1_Intron	p.V129A	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0152)		3	468	+			129					B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	ENST00000216968.4	37	c.386T>C	CCDS13248.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.091995	0.55968	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	T	0.00644	6.01	5.61	2.18	0.27775	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.838949	0.10634	N	0.651784	T	0.01661	0.0053	M	0.78223	2.4	0.27259	N	0.958687	P	0.43024	0.798	P	0.49332	0.607	T	0.41698	-0.9494	10	0.25751	T	0.34	-8.8246	6.4458	0.21875	0.0:0.2777:0.0:0.7223	.	129	Q9UNN8	EPCR_HUMAN	A	129	ENSP00000216968:V129A	ENSP00000216968:V129A	V	+	2	0	PROCR	33227695	0.454000	0.25728	0.593000	0.28771	0.944000	0.59088	0.369000	0.20416	0.430000	0.26230	0.459000	0.35465	GTC		0.602	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3			26	38	0	0	0	1	0	26	38					C	33764034	T	C	33764034	3	2	435	1	0	0	0	0	1	0	0	0	12547	1667	58	4	396	4	PROCR	20	33764034	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1476	33764034	29261486	8615	29540											
FAM83C	128876	broad.mit.edu	37	chr20	33874706	33874706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgccccagggtctgccgccGctcatctggtgcccgtctgg	2	9	14	16	3	4	0	1	0	3	0	4	0	4	0	5	3	3	1	5	3	0	0	rs141772980		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:33874706G>A	ENST00000374408.3	-	4	1972	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W	EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374443.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	626								p.R626W(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GTCTGCCGCCGCTCATCTGGT	0.627													G|||	1	0.000199681	0	0	5008	,	,		18343	0		0	False		,,,				2504	0.001					ENST00000374408.3																			1	Substitution - Missense(1)	p.R626W(1)	urinary_tract(1)	central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1876-1878)Cgg>Tgg		family with sequence similarity 83, member C		G	TRP/ARG	0,4406		0,0,2203	47	46	46		1876	1.2	1	20	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM83C	NM_178468.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	626/748	33874706	1,13005	2203	4300	6503	SO:0001583	missense	128876							g.chr20:33874706G>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1876C>T	20.37:g.33874706G>A	ENSP00000363529:p.Arg626Trp						p.R626W	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1972	-			626					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.1876C>T	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884868	0.51908	0.0	1.16E-4	ENSG00000125998	ENST00000374408	T	0.15487	2.42	4.54	1.19	0.21007	.	0.655352	0.12655	N	0.450090	T	0.23727	0.0574	L	0.46157	1.445	0.29320	N	0.867402	D	0.76494	0.999	P	0.51945	0.685	T	0.15065	-1.0450	10	0.59425	D	0.04	-12.5281	11.404	0.49887	0.0:0.0:0.5415:0.4585	.	626	Q9BQN1	FA83C_HUMAN	W	626	ENSP00000363529:R626W	ENSP00000363529:R626W	R	-	1	2	FAM83C	33338120	0.000000	0.05858	0.981000	0.43875	0.766000	0.43426	-0.204000	0.09425	0.630000	0.30394	0.561000	0.74099	CGG		0.627	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			13	16	0	0	0	1	0	13	16					A	33874706	G	A	33874706	3	1	435	1	0	0	0	0	1	0	0	0	5635	1086	38	1	371	1	FAM83C	20	33874706	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	110672	33874706	29150814	8616	29541											
FAM83C	128876	broad.mit.edu	37	chr20	33875362	33875362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattggccctatagagcccaGgaggggagccgtggttaggg	8	7	18	8	1	0	1	0	0	0	1	0	4	0	3	3	6	2	1	3	6	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:33875362G>T	ENST00000374408.3	-	4	1316	c.1220C>A	c.(1219-1221)cCt>cAt	p.P407H	EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374443.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	407										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ATAGAGCCCAGGAGGGGAGCC	0.627																																						ENST00000374408.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1219-1221)cCt>cAt		family with sequence similarity 83, member C							98	78	85					20																	33875362		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33875362G>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1220C>A	20.37:g.33875362G>T	ENSP00000363529:p.Pro407His						p.P407H	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1316	-			407					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.1220C>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	5.752	0.323229	0.10900	.	.	ENSG00000125998	ENST00000374408	T	0.06768	3.26	5.05	0.338	0.15974	.	0.929306	0.08920	N	0.874600	T	0.08313	0.0207	L	0.60455	1.87	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.43589	-0.9382	10	0.62326	D	0.03	-14.4273	0.9538	0.01382	0.2806:0.1569:0.4013:0.1612	.	407	Q9BQN1	FA83C_HUMAN	H	407	ENSP00000363529:P407H	ENSP00000363529:P407H	P	-	2	0	FAM83C	33338776	0.003000	0.15002	0.034000	0.17996	0.382000	0.30200	0.890000	0.28295	0.209000	0.20645	0.561000	0.74099	CCT		0.627	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			11	9	1	0	3.86212e-05	1	3.97146e-05	11	9					T	33875362	G	T	33875362	3	4	435	1	0	0	0	0	1	0	0	0	5635	1000	35	5	1027	5	FAM83C	20	33875362	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	656	33875362	29150158	8617	29542											
UQCC	55245	broad.mit.edu	37	chr20	33935022	33935022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acataaaatgaactatgataCgacacatgtacttcccactc	16	10	4	11	1	0	2	0	2	0	0	2	3	1	2	1	0	3	1	1	0	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:33935022C>T	ENST00000374385.5	-	7	695	c.518G>A	c.(517-519)cGt>cAt	p.R173H	UQCC1_ENST00000349714.5_Missense_Mutation_p.R146H|UQCC1_ENST00000374377.5_Missense_Mutation_p.R61H|UQCC1_ENST00000542501.1_Silent_p.S129S|UQCC1_ENST00000540457.1_Missense_Mutation_p.R18H|UQCC1_ENST00000374380.2_Missense_Mutation_p.R105H|UQCC1_ENST00000359226.2_Intron|UQCC1_ENST00000374384.2_Missense_Mutation_p.R173H|UQCC1_ENST00000407996.2_Intron|UQCC1_ENST00000397554.1_Missense_Mutation_p.R173H|UQCC1_ENST00000397556.3_Missense_Mutation_p.R74H|UQCC1_ENST00000491125.1_5'UTR	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	173						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											AACTATGATACGACACATGTA	0.478																																						ENST00000397554.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17						c.(517-519)cGt>cAt									264	227	240					20																	33935022		2203	4300	6503	SO:0001583	missense	0					cytoplasmic membrane-bounded vesicle		g.chr20:33935022C>T	AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"Mitochondrial respiratory chain complex assembly factors"	15891	protein-coding gene	gene with protein product	"Basic FGF-repressed Zic-binding protein", "cytochrome B protein synthesis 3 homolog (S. cerevisiae)"	611797	"chromosome 20 open reading frame 44", "ubiquinol-cytochrome c reductase complex chaperone"	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.518G>A	20.37:g.33935022C>T	ENSP00000363506:p.Arg173His					UQCC_ENST00000542501.1_Silent_p.S129S|UQCC_ENST00000540457.1_Missense_Mutation_p.R18H|UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000349714.5_Missense_Mutation_p.R146H|UQCC_ENST00000359226.2_Intron|UQCC_ENST00000407996.2_Intron|UQCC_ENST00000397556.3_Missense_Mutation_p.R74H|UQCC_ENST00000374385.5_Missense_Mutation_p.R173H|UQCC_ENST00000374377.5_Missense_Mutation_p.R61H|UQCC_ENST00000374380.2_Missense_Mutation_p.R105H|UQCC_ENST00000374384.2_Missense_Mutation_p.R173H	p.R173H			Q9NVA1	UQCC_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		7	528	-			173					B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	ENST00000374385.5	37	c.518G>A	CCDS13252.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101380	0.56183	.	.	ENSG00000101019	ENST00000349714;ENST00000374384;ENST00000374380;ENST00000374385;ENST00000374377;ENST00000397556;ENST00000540457;ENST00000424405;ENST00000438533;ENST00000397554	T;T;T;T;T;T	0.44083	1.52;1.41;1.47;0.93;1.42;1.38	4.32	1.16	0.20824	.	0.132116	0.53938	N	0.000059	T	0.35740	0.0942	L	0.56769	1.78	0.80722	D	1	B;B;B;B;B;B;B;B	0.20459	0.045;0.025;0.008;0.025;0.002;0.006;0.003;0.001	B;B;B;B;B;B;B;B	0.19148	0.024;0.024;0.012;0.016;0.004;0.009;0.022;0.005	T	0.15065	-1.0450	10	0.42905	T	0.14	-5.9787	9.4284	0.38595	0.0:0.7725:0.0:0.2275	.	105;165;173;173;58;74;146;173	B1AKV5;Q59FR0;B7ZBG3;B1AKV2;Q9NVA1-3;B7Z314;B7ZBG4;Q9NVA1	.;.;.;.;.;.;.;UQCC_HUMAN	H	146;173;105;173;61;74;18;141;187;173	ENSP00000335364:R146H;ENSP00000363505:R173H;ENSP00000363506:R173H;ENSP00000399713:R141H;ENSP00000398531:R187H;ENSP00000380686:R173H	ENSP00000335364:R146H	R	-	2	0	UQCC	33398436	1.000000	0.71417	0.844000	0.33320	0.997000	0.91878	2.298000	0.43602	0.176000	0.19873	0.491000	0.48974	CGT		0.478	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078866.1	NM_018244		6	153	0	0	0	1	0	6	153					T	33935022	C	T	33935022	3	4	435	1	0	0	0	0	1	0	0	0	17012	536	19	1	397	1	UQCC	20	33935022	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	59660	33935022	29090498	8618	29543											
CEP250	11190	broad.mit.edu	37	chr20	34060621	34060621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaggctcttactctggtgCgttcagtgctgactcggaga	8	11	12	10	2	3	2	1	1	2	1	4	3	3	2	0	3	3	3	0	3	2	2	rs370543710		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:34060621C>T	ENST00000397527.1	+	12	1894	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	CEP250_ENST00000342580.4_Missense_Mutation_p.R392C	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	392					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TACTCTGGTGCGTTCAGTGCT	0.512																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1174-1176)Cgt>Tgt		centrosomal protein 250kDa		C	CYS/ARG	0,4406		0,0,2203	196	178	184		1174	4.4	1	20		184	3,8597	3.0+/-9.4	0,3,4297	no	missense	CEP250	NM_007186.3	180	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	392/2443	34060621	3,13003	2203	4300	6503	SO:0001583	missense	11190				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	g.chr20:34060621C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.1174C>T	20.37:g.34060621C>T	ENSP00000380661:p.Arg392Cys					CEP250_ENST00000342580.4_Missense_Mutation_p.R392C	p.R392C	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		12	1894	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		392					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.1174C>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982793	0.53827	0.0	3.49E-4	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000425934	T;T;T	0.25414	2.74;2.78;1.8	5.35	4.4	0.53042	.	0.507255	0.18936	N	0.127073	T	0.26304	0.0642	L	0.54323	1.7	0.41012	D	0.985016	B	0.20780	0.048	B	0.16289	0.015	T	0.08953	-1.0697	10	0.87932	D	0	.	12.1375	0.53979	0.0:0.921:0.0:0.079	.	392	Q9BV73	CP250_HUMAN	C	392;392;391	ENSP00000380661:R392C;ENSP00000341541:R392C;ENSP00000413827:R391C	ENSP00000341541:R392C	R	+	1	0	CEP250	33524035	0.991000	0.36638	1.000000	0.80357	0.932000	0.56968	1.782000	0.38654	1.627000	0.50400	0.655000	0.94253	CGT		0.512	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		29	58	0	0	0	1	0	29	58					T	34060621	C	T	34060621	3	4	435	1	0	0	0	0	1	0	0	0	3252	768	27	1	1208	1	CEP250	20	34060621	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	125599	34060621	28964899	8619	29544											
CEP250	11190	broad.mit.edu	37	chr20	34067059	34067059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacattcttcccctcagtcaCgtcaccagcaggaggcagcc	9	7	8	17	1	4	0	3	0	1	0	5	1	5	1	4	2	2	2	4	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:34067059C>T	ENST00000397527.1	+	18	2818	c.2098C>T	c.(2098-2100)Cgt>Tgt	p.R700C	RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.R700C|RP3-477O4.14_ENST00000444933.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	700	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCCTCAGTCACGTCACCAGCA	0.587																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2098-2100)Cgt>Tgt		centrosomal protein 250kDa							66	58	60					20																	34067059		2203	4300	6503	SO:0001583	missense	11190				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	g.chr20:34067059C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2098C>T	20.37:g.34067059C>T	ENSP00000380661:p.Arg700Cys					RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.R700C|RP3-477O4.14_ENST00000416260.1_RNA	p.R700C	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		18	2818	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		700			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.2098C>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595271	0.28445	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.10005	2.92;2.94	5.04	-1.29	0.09288	.	1.909510	0.01844	N	0.035473	T	0.13114	0.0318	L	0.51422	1.61	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.38845	-0.9642	10	0.38643	T	0.18	.	10.2081	0.43124	0.0:0.4315:0.0:0.5685	.	700	Q9BV73	CP250_HUMAN	C	700	ENSP00000380661:R700C;ENSP00000341541:R700C	ENSP00000341541:R700C	R	+	1	0	CEP250	33530473	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	0.110000	0.15437	-0.385000	0.07833	-0.136000	0.14681	CGT		0.587	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		8	17	0	0	0	1	0	8	17					T	34067059	C	T	34067059	3	4	435	1	0	0	0	0	1	0	0	0	3252	536	19	1	2156	1	CEP250	20	34067059	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6438	34067059	28958461	8620	29545											
CEP250	11190	broad.mit.edu	37	chr20	34091237	34091237	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggacccggcagaccaagatCctggaggaggacctggaaca	13	3	14	11	1	0	2	0	0	0	2	1	7	1	7	4	6	1	1	4	6	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:34091237C>T	ENST00000397527.1	+	30	5760	c.5040C>T	c.(5038-5040)atC>atT	p.I1680I	CEP250_ENST00000342580.4_Silent_p.I1624I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1680	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGACCAAGATCCTGGAGGAGG	0.582																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(5038-5040)atC>atT		centrosomal protein 250kDa							107	115	112					20																	34091237		2203	4300	6503	SO:0001819	synonymous_variant	11190				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	g.chr20:34091237C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5040C>T	20.37:g.34091237C>T						CEP250_ENST00000342580.4_Silent_p.I1624I	p.I1680I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		30	5760	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1680			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	c.5040C>T	CCDS13255.1																																																																																				0.582	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		28	54	0	0	0	1	0	28	54					T	34091237	C	T	34091237	2	4	435	1	0	0	0	0	0	0	0	1	3252	845	30	3		3	CEP250	20	34091237	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	24178	34091237	28934283	8621	29546											
CEP250	11190	broad.mit.edu	37	chr20	34099321	34099321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacactcacttcttgccgtgGcccaggcccctgaggccact	6	8	9	18	1	2	1	1	1	1	0	2	1	2	1	5	3	1	0	5	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:34099321G>A	ENST00000397527.1	+	35	7915	c.7195G>A	c.(7195-7197)Gcc>Acc	p.A2399T	CEP250_ENST00000342580.4_Missense_Mutation_p.A2343T	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2399					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCTTGCCGTGGCCCAGGCCCC	0.632																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(7195-7197)Gcc>Acc		centrosomal protein 250kDa							56	53	54					20																	34099321		2203	4300	6503	SO:0001583	missense	11190				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	g.chr20:34099321G>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.7195G>A	20.37:g.34099321G>A	ENSP00000380661:p.Ala2399Thr					CEP250_ENST00000342580.4_Missense_Mutation_p.A2343T	p.A2399T	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		35	7915	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2399					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.7195G>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721968	0.68959	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.53423	2.59;2.56;0.62	4.41	4.41	0.53225	.	0.253385	0.28187	N	0.016275	T	0.66086	0.2754	M	0.75447	2.3	0.29660	N	0.843286	D	0.89917	1.0	D	0.87578	0.998	T	0.64351	-0.6428	10	0.54805	T	0.06	.	11.7642	0.51920	0.0875:0.0:0.9125:0.0	.	2399	Q9BV73	CP250_HUMAN	T	2399;2343;834	ENSP00000380661:A2399T;ENSP00000341541:A2343T;ENSP00000395992:A834T	ENSP00000341541:A2343T	A	+	1	0	CEP250	33562735	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	2.689000	0.46993	2.303000	0.77524	0.655000	0.94253	GCC		0.632	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		5	29	0	0	0	1	0	5	29					A	34099321	G	A	34099321	3	1	435	1	0	0	0	0	1	0	0	0	3252	1203	42	3	7321	3	CEP250	20	34099321	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8084	34099321	28926199	8622	29547											
ERGIC3	51614	broad.mit.edu	37	chr20	34135185	34135185	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgggaaagtcgaggtgacGgtgtttgaccctgactccct	7	11	13	10	2	0	3	0	3	0	0	2	5	1	4	2	3	0	1	2	3	1	2	rs201814399		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:34135185G>A	ENST00000348547.2	+	5	467	c.390G>A	c.(388-390)acG>acA	p.T130T	ERGIC3_ENST00000279052.6_Silent_p.T130T|ERGIC3_ENST00000357394.4_Silent_p.T130T|ERGIC3_ENST00000447986.1_Silent_p.T130T	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	130					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TCGAGGTGACGGTGTTTGACC	0.592																																						ENST00000348547.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16						c.(388-390)acG>acA		ERGIC and golgi 3		G	,	0,4406		0,0,2203	126	87	100		390,390	-2.2	1	20		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ERGIC3	NM_015966.2,NM_198398.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	130/384,130/389	34135185	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51614				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding	g.chr20:34135185G>A	AF077030	CCDS13257.1, CCDS13258.1	20q11.22	2013-09-19	2006-01-19	2006-01-19	ENSG00000125991	ENSG00000125991			15927	protein-coding gene	gene with protein product			"serologically defined breast cancer antigen 84", "chromosome 20 open reading frame 47"	SDBCAG84, C20orf47		10810093	Standard	NM_015966		Approved	CGI-54, PRO0989, NY-BR-84, Erv46	uc002xcs.3	Q9Y282	OTTHUMG00000032346	ENST00000348547.2:c.390G>A	20.37:g.34135185G>A						ERGIC3_ENST00000447986.1_Silent_p.T130T|ERGIC3_ENST00000357394.4_Silent_p.T130T|ERGIC3_ENST00000279052.6_Silent_p.T130T	p.T130T	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		5	467	+	Lung NSC(9;0.00489)|all_lung(11;0.00729)		130					Q5JWS3|Q6ZWP7|Q9H276|Q9P1L3	Silent	SNP	ENST00000348547.2	37	c.390G>A	CCDS13257.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.345|9.345	1.064138|1.064138	0.20067|0.20067	0.0|0.0	1.16E-4|1.16E-4	ENSG00000125991|ENSG00000125991	ENST00000413587|ENST00000416206	.|.	.|.	.|.	4.4|4.4	-2.17|-2.17	0.07059|0.07059	.|.	.|.	.|.	.|.	.|.	T|T	0.48077|0.48077	0.1480|0.1480	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.36720|0.36720	-0.9736|-0.9736	4|4	.|.	.|.	.|.	-25.4455|-25.4455	5.023|5.023	0.14370|0.14370	0.4075:0.2692:0.3233:0.0|0.4075:0.2692:0.3233:0.0	.|.	.|.	.|.	.|.	S|Q	132|129	.|.	.|.	G|R	+|+	1|2	0|0	ERGIC3|ERGIC3	33598599|33598599	0.718000|0.718000	0.27976|0.27976	0.987000|0.987000	0.45799|0.45799	0.977000|0.977000	0.68977|0.68977	0.213000|0.213000	0.17521|0.17521	-0.456000|-0.456000	0.07043|0.07043	-0.266000|-0.266000	0.10368|0.10368	GGT|CGG		0.592	ERGIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078880.2	NM_015966		3	13	0	0	0	1	0	3	13					A	34135185	G	A	34135185	2	1	435	1	0	0	0	0	0	0	0	1	5225	1103	39	2		2	ERGIC3	20	34135185	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	35864	34135185	28890335	8623	29548											
RBM12	10137	broad.mit.edu	37	chr20	34243008	34243008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagttcaatcatattctgCatttccgtcttactactcaa	10	16	3	12	1	6	0	4	0	2	0	7	0	7	0	1	0	3	2	1	0	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:34243008C>T	ENST00000374114.3	-	3	500	c.237G>A	c.(235-237)atG>atA	p.M79I	CPNE1_ENST00000317677.5_5'Flank|RBM12_ENST00000359646.1_Missense_Mutation_p.M79I|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.M79I|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	79						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCATATTCTGCATTTCCGTCT	0.428											OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(235-237)atG>atA		RNA binding motif protein 12							181	162	169					20																	34243008		2203	4300	6503	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34243008C>T	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.237G>A	20.37:g.34243008C>T	ENSP00000363228:p.Met79Ile		OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	846	CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.M79I|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.M79I|CPNE1_ENST00000397445.1_Intron	p.M79I	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	500	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		79					B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.237G>A	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793590	0.50102	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000424458;ENST00000431148;ENST00000435161	T;T;T;T;T;T	0.28069	1.67;1.67;1.67;1.63;2.03;2.06	5.45	5.45	0.79879	.	0.049226	0.85682	N	0.000000	T	0.45637	0.1352	L	0.32530	0.975	0.80722	D	1	D	0.54964	0.969	D	0.63381	0.914	T	0.35992	-0.9766	10	0.72032	D	0.01	-7.3943	19.4929	0.95059	0.0:1.0:0.0:0.0	.	79	Q9NTZ6	RBM12_HUMAN	I	79	ENSP00000363228:M79I;ENSP00000352668:M79I;ENSP00000363217:M79I;ENSP00000411036:M79I;ENSP00000392642:M79I;ENSP00000411692:M79I	ENSP00000352668:M79I	M	-	3	0	RBM12	33706422	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.320000	0.79064	2.835000	0.97688	0.650000	0.86243	ATG		0.428	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		26	43	0	0	0	1	0	26	43					T	34243008	C	T	34243008	3	4	435	1	0	0	0	0	1	0	0	0	13113	710	25	3	2565	3	RBM12	20	34243008	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	107823	34243008	28782512	8624	29549											
RBM39	9584	broad.mit.edu	37	chr20	34309768	34309768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacttcccttttgtaaattgTttgccattgctgcagctctg	6	17	7	11	0	1	0	0	0	1	0	2	0	2	0	2	0	4	5	2	0	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:34309768T>C	ENST00000253363.6	-	9	742	c.719A>G	c.(718-720)aAc>aGc	p.N240S	RBM39_ENST00000407261.4_Missense_Mutation_p.N83S|RBM39_ENST00000361162.6_Missense_Mutation_p.N240S|RBM39_ENST00000528062.3_Missense_Mutation_p.N218S			Q14498	RBM39_HUMAN	RNA binding motif protein 39	240					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TTGTAAATTGTTTGCCATTGC	0.408																																						ENST00000361162.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(718-720)aAc>aGc		RNA binding motif protein 39							170	154	159					20																	34309768		2203	4300	6503	SO:0001583	missense	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34309768T>C	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"RNA binding motif (RRM) containing"	15923	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen receptors", "functional spliceosome-associated protein 59"	604739	"RNA-binding region (RNP1, RRM) containing 2"	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.719A>G	20.37:g.34309768T>C	ENSP00000253363:p.Asn240Ser					RBM39_ENST00000253363.6_Missense_Mutation_p.N240S|RBM39_ENST00000528062.3_Missense_Mutation_p.N218S|RBM39_ENST00000407261.4_Missense_Mutation_p.N83S	p.N240S	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN			9	1103	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		240					A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	c.719A>G	CCDS13266.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562905	0.45694	.	.	ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261	T;T;T;T	0.19669	2.15;2.15;2.13;2.45	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.11793	0.0287	N	0.12831	0.26	0.80722	D	1	B;B;B;B;B	0.17268	0.001;0.001;0.007;0.021;0.001	B;B;B;B;B	0.14023	0.003;0.001;0.01;0.01;0.001	T	0.08722	-1.0708	10	0.07644	T	0.81	.	15.4442	0.75216	0.0:0.0:0.0:1.0	.	218;218;240;240;216	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.;.;.;RBM39_HUMAN;.	S	240;240;218;83	ENSP00000253363:N240S;ENSP00000354437:N240S;ENSP00000436747:N218S;ENSP00000384541:N83S	ENSP00000253363:N240S	N	-	2	0	RBM39	33773182	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.936000	0.87665	2.115000	0.64714	0.529000	0.55759	AAC		0.408	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		20	36	0	0	0	1	0	20	36					C	34309768	T	C	34309768	3	2	435	1	0	0	0	0	1	0	0	0	13133	1725	60	4	909	4	RBM39	20	34309768	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	66760	34309768	28715752	8625	29550											
C20orf4	25980	broad.mit.edu	37	chr20	34843606	34843606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttccggtgggactttgctgCggaacctgaggactgtgccc	5	10	15	11	2	0	1	0	1	0	0	1	4	1	4	3	4	4	2	3	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:34843606C>T	ENST00000373932.3	+	4	1440	c.1094C>T	c.(1093-1095)gCg>gTg	p.A365V	AAR2_ENST00000320849.4_Missense_Mutation_p.A365V|AAR2_ENST00000397286.3_Intron	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	365																	GACTTTGCTGCGGAACCTGAG	0.602																																						ENST00000373932.3																			0											c.(1093-1095)gCg>gTg		AAR2 splicing factor homolog (S. cerevisiae)							84	88	87					20																	34843606		2203	4300	6503	SO:0001583	missense	25980							g.chr20:34843606C>T		CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 4"	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.1094C>T	20.37:g.34843606C>T	ENSP00000363043:p.Ala365Val					AAR2_ENST00000397286.3_Intron|AAR2_ENST00000320849.4_Missense_Mutation_p.A365V	p.A365V	NM_015511.3	NP_056326.2					4	1440	+								E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Missense_Mutation	SNP	ENST00000373932.3	37	c.1094C>T	CCDS13273.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858368	0.32791	.	.	ENSG00000131043	ENST00000320849;ENST00000373932	T;T	0.44881	0.91;0.91	6.17	4.15	0.48705	.	.	.	.	.	T	0.26557	0.0649	N	0.20685	0.6	0.34630	D	0.719512	B	0.12013	0.005	B	0.12156	0.007	T	0.26189	-1.0110	9	0.33940	T	0.23	.	8.466	0.32956	0.2581:0.6712:0.0:0.0707	.	365	Q9Y312	CT004_HUMAN	V	365	ENSP00000313674:A365V;ENSP00000363043:A365V	ENSP00000313674:A365V	A	+	2	0	C20orf4	34307020	0.996000	0.38824	0.075000	0.20258	0.669000	0.39330	3.572000	0.53849	1.630000	0.50440	0.655000	0.94253	GCG		0.602	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		12	63	0	0	0	1	0	12	63					T	34843606	C	T	34843606	3	4	435	1	0	0	0	0	1	0	0	0	2111	768	27	1	1104	1	C20orf4	20	34843606	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	533838	34843606	28181914	8626	29551											
DLGAP4	22839	broad.mit.edu	37	chr20	35060648	35060648	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagggtggcatggaggaCggcaagggccggagggccaa	12	2	20	7	2	0	1	0	0	0	1	0	4	0	4	2	8	0	2	2	8	4	0	rs199906699		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:35060648C>T	ENST00000373907.2	+	2	727	c.528C>T	c.(526-528)gaC>gaT	p.D176D	DLGAP4_ENST00000339266.5_Silent_p.D176D|DLGAP4_ENST00000401952.2_Silent_p.D176D|DLGAP4_ENST00000373913.3_Silent_p.D176D			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	176					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCATGGAGGACGGCAAGGGCC	0.642																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(526-528)gaC>gaT		discs, large (Drosophila) homolog-associated protein 4		C		6,4400	9.9+/-24.2	0,6,2197	40	45	43		528	1.4	1	20		43	0,8600		0,0,4300	no	coding-synonymous	DLGAP4	NM_014902.4		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		176/990	35060648	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060648C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.528C>T	20.37:g.35060648C>T						DLGAP4_ENST00000373907.2_Silent_p.D176D|DLGAP4_ENST00000401952.2_Silent_p.D176D|DLGAP4_ENST00000339266.5_Silent_p.D176D	p.D176D			Q9Y2H0	DLGP4_HUMAN			3	1008	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	176					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.528C>T																																																																																					0.642	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		15	21	0	0	0	1	0	15	21					T	35060648	C	T	35060648	2	4	435	1	0	0	0	0	0	0	0	1	4562	535	19	1		1	DLGAP4	20	35060648	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	217042	35060648	27964872	8627	29552											
DSN1	79980	broad.mit.edu	37	chr20	35399356	35399356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccgccaggattgcctcCtgtcttgataactggcagat	7	11	10	13	2	1	2	0	1	1	1	3	3	2	3	4	2	2	1	4	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:35399356C>A	ENST00000426836.1	-	3	647	c.275G>T	c.(274-276)aGg>aTg	p.R92M	DSN1_ENST00000373740.3_Missense_Mutation_p.R20M|DSN1_ENST00000373745.3_Missense_Mutation_p.R92M|DSN1_ENST00000448110.2_Missense_Mutation_p.R76M|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373750.4_Missense_Mutation_p.R92M|DSN1_ENST00000373734.4_Intron	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	92					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				GGATTGCCTCCTGTCTTGATA	0.507																																						ENST00000426836.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(274-276)aGg>aTg		DSN1, MIS12 kinetochore complex component							150	148	149					20																	35399356		2203	4300	6503	SO:0001583	missense	79980				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr20:35399356C>A	AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"kinetochore null 3 homolog (C. elegans)"	609175	"chromosome 20 open reading frame 172", "DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.275G>T	20.37:g.35399356C>A	ENSP00000389810:p.Arg92Met					DSN1_ENST00000373734.4_Intron|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373740.3_Missense_Mutation_p.R20M|DSN1_ENST00000373745.3_Missense_Mutation_p.R92M|DSN1_ENST00000373750.4_Missense_Mutation_p.R92M|DSN1_ENST00000448110.1_Missense_Mutation_p.R76M	p.R92M	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN			3	647	-		Myeloproliferative disorder(115;0.00874)	92					B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	ENST00000426836.1	37	c.275G>T	CCDS13286.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686276	0.68157	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373733;ENST00000373750;ENST00000373740;ENST00000449595;ENST00000447406	.	.	.	5.12	3.09	0.35607	.	0.207045	0.40908	D	0.001000	T	0.51058	0.1652	L	0.29908	0.895	0.35801	D	0.82315	P	0.51791	0.948	P	0.57548	0.823	T	0.61387	-0.7073	9	0.72032	D	0.01	-13.4184	7.4232	0.27083	0.0:0.79:0.0:0.21	.	92	Q9H410	DSN1_HUMAN	M	92;92;76;25;92;20;76;92	.	ENSP00000362838:R25M	R	-	2	0	DSN1	34832770	0.767000	0.28508	0.992000	0.48379	0.747000	0.42532	0.028000	0.13644	1.310000	0.45006	0.655000	0.94253	AGG		0.507	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		66	67	1	0	6.52717e-41	1	7.33653e-41	66	67					A	35399356	C	A	35399356	3	1	435	1	0	0	0	0	1	0	0	0	4780	681	24	5	831	5	DSN1	20	35399356	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	338708	35399356	27626164	8628	29553											
C20orf117	140710	broad.mit.edu	37	chr20	35443659	35443659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggactgcatctgccttcCgcgtgaaggcattcagctcc	7	9	11	14	3	2	1	1	1	1	0	4	3	4	2	3	2	3	3	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:35443659C>T	ENST00000357779.3	-	5	1798	c.1472G>A	c.(1471-1473)cGg>cAg	p.R491Q	SOGA1_ENST00000456801.2_Missense_Mutation_p.R332Q|SOGA1_ENST00000279034.6_Missense_Mutation_p.R491Q|SOGA1_ENST00000237536.4_Missense_Mutation_p.R729Q			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	491					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						ATCTGCCTTCCGCGTGAAGGC	0.622																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(2185-2187)cGg>cAg		suppressor of glucose, autophagy associated 1							60	69	66					20																	35443659		2199	4294	6493	SO:0001583	missense	140710							g.chr20:35443659C>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1472G>A	20.37:g.35443659C>T	ENSP00000350424:p.Arg491Gln					SOGA1_ENST00000456801.2_Missense_Mutation_p.R332Q|SOGA1_ENST00000279034.5_Missense_Mutation_p.R491Q|SOGA1_ENST00000357779.3_Missense_Mutation_p.R491Q	p.R729Q	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			5	2527	-			491					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.2186G>A		.	.	.	.	.	.	.	.	.	.	C	14.46	2.543194	0.45280	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.17691	2.26;2.26;2.27;2.27	5.04	5.04	0.67666	.	0.131490	0.50627	D	0.000107	T	0.19565	0.0470	L	0.44542	1.39	0.27988	N	0.935795	D	0.55385	0.971	P	0.48166	0.569	T	0.06570	-1.0819	10	0.39692	T	0.17	-35.0276	10.8385	0.46700	0.0:0.9128:0.0:0.0872	.	491	O94964-4	.	Q	729;491;332;491	ENSP00000237536:R729Q;ENSP00000279034:R491Q;ENSP00000413886:R332Q;ENSP00000350424:R491Q	ENSP00000237536:R729Q	R	-	2	0	KIAA0889	34877073	0.993000	0.37304	0.062000	0.19696	0.046000	0.14306	4.478000	0.60230	2.629000	0.89072	0.561000	0.74099	CGG		0.622	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		29	33	0	0	0	1	0	29	33					T	35443659	C	T	35443659	3	4	435	1	0	0	0	0	1	0	0	0	2083	652	23	2	2905	2	C20orf117	20	35443659	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44303	35443659	27581861	8629	29554											
SAMHD1	25939	broad.mit.edu	37	chr20	35539668	35539668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtcaattgctgtagaaatgCgatacttttttcctccagca	10	14	7	10	2	1	1	1	0	0	1	3	2	3	1	2	0	4	3	2	0	4	6	rs140417977		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:35539668C>T	ENST00000262878.4	-	11	1422	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	408					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TGTAGAAATGCGATACTTTTT	0.358																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(1222-1224)cGc>cAc		SAM domain and HD domain 1		C	HIS/ARG	0,4406		0,0,2203	148	126	133		1223	-10	0	20	dbSNP_134	133	2,8598	2.2+/-6.3	0,2,4298	no	missense	SAMHD1	NM_015474.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	408/627	35539668	2,13004	2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35539668C>T	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1223G>A	20.37:g.35539668C>T	ENSP00000262878:p.Arg408His						p.R408H	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			11	1422	-		Myeloproliferative disorder(115;0.00878)	408					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.1223G>A	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	C	3.762	-0.049490	0.07407	0.0	2.33E-4	ENSG00000101347	ENST00000262878	D	0.95137	-3.62	5.29	-10.0	0.00425	.	1.685210	0.03147	N	0.167436	D	0.85452	0.5700	N	0.11427	0.14	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.73892	-0.3839	10	0.31617	T	0.26	-2.2311	11.4457	0.50123	0.0:0.5263:0.2757:0.198	.	408	Q9Y3Z3	SAMH1_HUMAN	H	408	ENSP00000262878:R408H	ENSP00000262878:R408H	R	-	2	0	SAMHD1	34973082	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	-1.948000	0.01533	-1.691000	0.01430	-0.384000	0.06662	CGC		0.358	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		4	92	0	0	0	1	0	4	92					T	35539668	C	T	35539668	3	4	435	1	0	0	0	0	1	0	0	0	13828	768	27	1	681	1	SAMHD1	20	35539668	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	96009	35539668	27485852	8630	29555											
SAMHD1	25939	broad.mit.edu	37	chr20	35539724	35539724	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtcatctgctttgaggaaAgcatctgtaatcctaaaaat	14	13	7	7	0	3	1	1	1	2	0	4	2	4	2	1	1	2	3	1	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:35539724A>T	ENST00000262878.4	-	11	1366	c.1167T>A	c.(1165-1167)gcT>gcA	p.A389A		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	389					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CTTTGAGGAAAGCATCTGTAA	0.333																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(1165-1167)gcT>gcA		SAM domain and HD domain 1							97	91	93					20																	35539724		2203	4300	6503	SO:0001819	synonymous_variant	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35539724A>T	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1167T>A	20.37:g.35539724A>T							p.A389A	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			11	1366	-		Myeloproliferative disorder(115;0.00878)	389					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Silent	SNP	ENST00000262878.4	37	c.1167T>A	CCDS13288.1																																																																																				0.333	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		36	47	0	0	0	1	0	36	47					T	35539724	A	T	35539724	2	4	435	1	0	0	0	0	0	0	0	1	13828	59	3	5		5	SAMHD1	20	35539724	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	56	35539724	27485796	8631	29556											
SAMHD1	25939	broad.mit.edu	37	chr20	35545171	35545171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtctacttcacagacaCgggcaaacttaataaagcgc	14	9	7	11	2	2	1	1	0	1	1	2	1	2	1	0	1	3	1	0	1	5	5	rs201250022		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:35545171C>T	ENST00000262878.4	-	9	1215	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	SAMHD1_ENST00000373694.5_Missense_Mutation_p.R124H	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	339					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTCACAGACACGGGCAAACTT	0.383																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(1015-1017)cGt>cAt		SAM domain and HD domain 1							187	202	197					20																	35545171		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35545171C>T	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1016G>A	20.37:g.35545171C>T	ENSP00000262878:p.Arg339His					SAMHD1_ENST00000373694.5_Missense_Mutation_p.R124H	p.R339H	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			9	1215	-		Myeloproliferative disorder(115;0.00878)	339					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.1016G>A	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045935	0.93685	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.95171	-3.63;-3.63	5.79	4.85	0.62838	HD domain (1);	0.051878	0.85682	D	0.000000	D	0.97623	0.9221	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.98406	1.0570	10	0.87932	D	0	-19.3775	14.4769	0.67551	0.0:0.9288:0.0:0.0711	.	339	Q9Y3Z3	SAMH1_HUMAN	H	339;124	ENSP00000262878:R339H;ENSP00000362798:R124H	ENSP00000262878:R339H	R	-	2	0	SAMHD1	34978585	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.614000	0.82996	1.444000	0.47605	0.591000	0.81541	CGT		0.383	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		70	119	0	0	0	1	0	70	119					T	35545171	C	T	35545171	3	4	435	1	0	0	0	0	1	0	0	0	13828	536	19	1	896	1	SAMHD1	20	35545171	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5447	35545171	27480349	8632	29557											
RBL1	5933	broad.mit.edu	37	chr20	35689594	35689594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacactttgggtggctgatgCaacaggagtaatgactgctt	10	11	12	8	0	0	2	0	2	0	0	0	3	0	3	0	3	3	4	0	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:35689594C>T	ENST00000373664.3	-	9	1228	c.1162G>A	c.(1162-1164)Gca>Aca	p.A388T	RBL1_ENST00000344359.3_Missense_Mutation_p.A388T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	388	Domain A.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			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)				GTGGCTGATGCAACAGGAGTA	0.413																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1162-1164)Gca>Aca		retinoblastoma-like 1 (p107)							119	113	115					20																	35689594		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35689594C>T	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1162G>A	20.37:g.35689594C>T	ENSP00000362768:p.Ala388Thr					RBL1_ENST00000344359.3_Missense_Mutation_p.A388T	p.A388T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			9	1228	-		Myeloproliferative disorder(115;0.00878)	388			Domain A.|Pocket; binds T and E1A.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.1162G>A	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953626	0.73902	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.87412	-2.25;-2.25	4.44	4.44	0.53790	Retinoblastoma-associated protein, A-box (1);	0.057277	0.64402	D	0.000001	T	0.77054	0.4074	N	0.17723	0.515	0.46499	D	0.999075	P;B	0.48089	0.905;0.1	B;B	0.42343	0.384;0.06	T	0.74609	-0.3608	10	0.16896	T	0.51	-10.2026	12.3981	0.55397	0.1679:0.8321:0.0:0.0	.	388;388	P28749-2;P28749	.;RBL1_HUMAN	T	388	ENSP00000362768:A388T;ENSP00000343646:A388T	ENSP00000343646:A388T	A	-	1	0	RBL1	35123008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.700000	0.68318	2.309000	0.77851	0.655000	0.94253	GCA		0.413	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		4	80	0	0	0	1	0	4	80					T	35689594	C	T	35689594	3	4	435	1	0	0	0	0	1	0	0	0	13109	710	25	3	2109	3	RBL1	20	35689594	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	144423	35689594	27335926	8633	29558											
RBL1	5933	broad.mit.edu	37	chr20	35690594	35690594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttccaatttcctcttctgCgtctgctcccaaaaagatcc	8	14	5	14	1	3	1	0	0	3	1	7	1	7	1	4	0	2	2	4	0	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:35690594C>T	ENST00000373664.3	-	8	1042	c.976G>A	c.(976-978)Gca>Aca	p.A326T	RBL1_ENST00000344359.3_Missense_Mutation_p.A326T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	326				Missing (in Ref. 8; AA sequence). {ECO:0000305}.	chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			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)				TCCTCTTCTGCGTCTGCTCCC	0.413																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(976-978)Gca>Aca		retinoblastoma-like 1 (p107)							154	134	141					20																	35690594		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35690594C>T	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.976G>A	20.37:g.35690594C>T	ENSP00000362768:p.Ala326Thr					RBL1_ENST00000344359.3_Missense_Mutation_p.A326T	p.A326T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			8	1042	-		Myeloproliferative disorder(115;0.00878)	326	Missing (in Ref. 8; AA sequence).				A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.976G>A	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348815	0.95807	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.94092	-3.12;-3.35	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.96651	0.8907	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.989	D	0.95056	0.8191	10	0.15499	T	0.54	-23.6504	18.5852	0.91187	0.0:1.0:0.0:0.0	.	326;326	P28749-2;P28749	.;RBL1_HUMAN	T	326	ENSP00000362768:A326T;ENSP00000343646:A326T	ENSP00000343646:A326T	A	-	1	0	RBL1	35124008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.284000	0.78650	2.612000	0.88384	0.655000	0.94253	GCA		0.413	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		7	51	0	0	0	1	0	7	51					T	35690594	C	T	35690594	3	4	435	1	0	0	0	0	1	0	0	0	13109	768	27	1	2299	1	RBL1	20	35690594	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1000	35690594	27334926	8634	29559											
RPN2	6185	broad.mit.edu	37	chr20	35833290	35833290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggatcatgtggggactgagCcatccattaaggaggtacct	10	10	13	8	0	1	1	1	1	0	0	2	4	2	4	3	5	2	1	3	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:35833290C>T	ENST00000237530.6	+	6	987	c.676C>T	c.(676-678)Cca>Tca	p.P226S	RPN2_ENST00000373622.5_Missense_Mutation_p.P194S	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	226					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GGGGACTGAGCCATCCATTAA	0.468																																						ENST00000237530.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.(676-678)Cca>Tca		ribophorin II							91	84	86					20																	35833290		2203	4300	6503	SO:0001583	missense	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35833290C>T	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.676C>T	20.37:g.35833290C>T	ENSP00000237530:p.Pro226Ser					RPN2_ENST00000373622.5_Missense_Mutation_p.P194S	p.P226S	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN			6	987	+		Myeloproliferative disorder(115;0.00878)	226					Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	ENST00000237530.6	37	c.676C>T	CCDS13291.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554048	0.86231	.	.	ENSG00000118705	ENST00000456102;ENST00000237530;ENST00000373622;ENST00000373632;ENST00000338768	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.60983	0.2311	M	0.64170	1.965	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;0.998	T	0.52689	-0.8542	10	0.25106	T	0.35	-10.4369	16.6999	0.85346	0.0:1.0:0.0:0.0	.	101;194;226;226	A6NKT1;Q5JYR6;P04844;B2RE46	.;.;RPN2_HUMAN;.	S	69;226;194;242;242	ENSP00000399137:P69S;ENSP00000237530:P226S;ENSP00000362724:P194S;ENSP00000362735:P242S	ENSP00000237530:P226S	P	+	1	0	RPN2	35266704	1.000000	0.71417	0.988000	0.46212	0.974000	0.67602	7.047000	0.76599	2.809000	0.96659	0.557000	0.71058	CCA		0.468	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		6	55	0	0	0	1	0	6	55					T	35833290	C	T	35833290	3	4	435	1	0	0	0	0	1	0	0	0	13608	739	26	3	698	3	RPN2	20	35833290	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	142696	35833290	27192230	8635	29560											
KIAA0406	9675	broad.mit.edu	37	chr20	36641108	36641108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttctgacaagatgtcagCgagggctttgttgcccacca	8	11	11	11	1	2	2	1	1	1	1	2	3	2	2	2	1	2	3	2	1	1	3	rs372043570		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:36641108C>T	ENST00000373448.2	-	3	1349	c.1111G>A	c.(1111-1113)Gct>Act	p.A371T	TTI1_ENST00000449821.1_Missense_Mutation_p.A371T|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Missense_Mutation_p.A371T	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	371					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AAGATGTCAGCGAGGGCTTTG	0.458																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(1111-1113)Gct>Act		TELO2 interacting protein 1							157	160	159					20																	36641108		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36641108C>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1111G>A	20.37:g.36641108C>T	ENSP00000362547:p.Ala371Thr					TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Missense_Mutation_p.A371T|TTI1_ENST00000449821.1_Missense_Mutation_p.A371T	p.A371T	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	1349	-			371					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.1111G>A	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	C	2.618	-0.289333	0.05605	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.13307	2.6;2.6;2.6	5.64	1.58	0.23477	Armadillo-like helical (1);Armadillo-type fold (1);	0.262306	0.44688	N	0.000425	T	0.10680	0.0261	L	0.48877	1.53	0.32084	N	0.59272	B	0.06786	0.001	B	0.04013	0.001	T	0.24941	-1.0146	10	0.13470	T	0.59	-7.3339	9.9958	0.41898	0.0:0.7243:0.0:0.2757	.	371	O43156	TTI1_HUMAN	T	371	ENSP00000362547:A371T;ENSP00000362546:A371T;ENSP00000407270:A371T	ENSP00000362546:A371T	A	-	1	0	TTI1	36074522	0.128000	0.22383	0.661000	0.29709	0.311000	0.27955	0.506000	0.22658	0.504000	0.28082	-0.133000	0.14855	GCT		0.458	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		47	69	0	0	0	1	0	47	69					T	36641108	C	T	36641108	3	4	435	1	0	0	0	0	1	0	0	0	8173	768	27	1	2186	1	KIAA0406	20	36641108	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	807818	36641108	26384412	8636	29561											
TGM2	7052	broad.mit.edu	37	chr20	36767992	36767992	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagacaaagggcgcatcGtacttggtgctcaggtcgcc	10	7	13	11	3	1	1	1	0	0	1	3	1	1	1	1	3	2	4	1	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:36767992G>A	ENST00000361475.2	-	9	1337	c.1164C>T	c.(1162-1164)taC>taT	p.Y388Y	TGM2_ENST00000536701.1_Silent_p.Y307Y|TGM2_ENST00000536724.1_Silent_p.Y328Y	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	388					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AGGGCGCATCGTACTTGGTGC	0.587																																						ENST00000361475.2																			0				endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1162-1164)taC>taT		transglutaminase 2	L-Glutamine(DB00130)						115	83	94					20																	36767992		2203	4300	6503	SO:0001819	synonymous_variant	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36767992G>A	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"Transglutaminases"	11778	protein-coding gene	gene with protein product	"C polypeptide, protein-glutamine-gamma-glutamyltransferase"	190196	"transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1164C>T	20.37:g.36767992G>A						TGM2_ENST00000536724.1_Silent_p.Y328Y|TGM2_ENST00000536701.1_Silent_p.Y307Y	p.Y388Y	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN			9	1337	-		Myeloproliferative disorder(115;0.00878)	388					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	ENST00000361475.2	37	c.1164C>T	CCDS13302.1																																																																																				0.587	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		16	29	0	0	0	1	0	16	29					A	36767992	G	A	36767992	2	1	435	1	0	0	0	0	0	0	0	1	15827	1140	40	1		1	TGM2	20	36767992	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	126884	36767992	26257528	8637	29562											
TGM2	7052	broad.mit.edu	37	chr20	36770599	36770599	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggatgcccaggcacctcaGcactgttggagaggagtgga	10	6	16	9	0	1	1	1	0	0	1	1	5	1	4	2	5	2	3	2	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:36770599G>A	ENST00000361475.2	-	7	1035	c.862C>T	c.(862-864)Ctg>Ttg	p.L288L	TGM2_ENST00000536701.1_Silent_p.L207L|TGM2_ENST00000536724.1_Silent_p.L228L	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	288					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AGGCACCTCAGCACTGTTGGA	0.587																																						ENST00000361475.2																			0				endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(862-864)Ctg>Ttg		transglutaminase 2	L-Glutamine(DB00130)						157	127	137					20																	36770599		2203	4300	6503	SO:0001819	synonymous_variant	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36770599G>A	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"Transglutaminases"	11778	protein-coding gene	gene with protein product	"C polypeptide, protein-glutamine-gamma-glutamyltransferase"	190196	"transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.862C>T	20.37:g.36770599G>A						TGM2_ENST00000536724.1_Silent_p.L228L|TGM2_ENST00000536701.1_Silent_p.L207L	p.L288L	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN			7	1035	-		Myeloproliferative disorder(115;0.00878)	288					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	ENST00000361475.2	37	c.862C>T	CCDS13302.1																																																																																				0.587	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		10	26	0	0	0	1	0	10	26					A	36770599	G	A	36770599	2	1	435	1	0	0	0	0	0	0	0	1	15827	962	34	3		3	TGM2	20	36770599	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2607	36770599	26254921	8638	29563											
TGM2	7052	broad.mit.edu	37	chr20	36789870	36789870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacactggcctcgtagttgcGgccctcaaagtgcagggtca	8	9	12	12	2	2	0	2	0	0	0	3	0	2	0	2	3	3	3	2	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:36789870G>A	ENST00000361475.2	-	2	315	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	TGM2_ENST00000536701.1_Missense_Mutation_p.R48C|TGM2_ENST00000536724.1_Intron	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	48					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R48C(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TCGTAGTTGCGGCCCTCAAAG	0.637																																						ENST00000361475.2																			1	Substitution - Missense(1)	p.R48C(1)	skin(1)	endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(142-144)Cgc>Tgc		transglutaminase 2	L-Glutamine(DB00130)						73	57	62					20																	36789870		2203	4300	6503	SO:0001583	missense	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36789870G>A	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"Transglutaminases"	11778	protein-coding gene	gene with protein product	"C polypeptide, protein-glutamine-gamma-glutamyltransferase"	190196	"transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.142C>T	20.37:g.36789870G>A	ENSP00000355330:p.Arg48Cys					TGM2_ENST00000536724.1_Intron|TGM2_ENST00000536701.1_Missense_Mutation_p.R48C	p.R48C	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN			2	315	-		Myeloproliferative disorder(115;0.00878)	48					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	c.142C>T	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855884	0.32791	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000373403;ENST00000453095	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	3.52	1.48	0.22813	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.266404	0.31392	N	0.007722	D	0.94958	0.8369	M	0.91038	3.17	0.49299	D	0.999779	P;D;D;D	0.89917	0.948;1.0;1.0;1.0	P;D;D;D	0.80764	0.594;0.994;0.977;0.972	D	0.93230	0.6616	10	0.87932	D	0	-14.3744	7.2535	0.26162	0.0929:0.0:0.7209:0.1863	.	48;48;48;48	B4DIT7;P21980-3;P21980-2;P21980	.;.;.;TGM2_HUMAN	C	48	ENSP00000355330:R48C;ENSP00000444701:R48C;ENSP00000362502:R48C;ENSP00000387642:R48C	ENSP00000355330:R48C	R	-	1	0	TGM2	36223284	0.902000	0.30710	0.736000	0.30914	0.112000	0.19704	0.679000	0.25291	0.426000	0.26116	-0.258000	0.10820	CGC		0.637	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		12	25	0	0	0	1	0	12	25					A	36789870	G	A	36789870	3	1	435	1	0	0	0	0	1	0	0	0	15827	1116	39	2	2001	2	TGM2	20	36789870	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19271	36789870	26235650	8639	29564											
KIAA1755	85449	broad.mit.edu	37	chr20	36846737	36846737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcagtgattgcaggcacCgccttccttcctgctccatc	5	11	10	15	1	1	1	1	1	0	0	5	1	4	1	5	2	2	3	5	2	0	3	rs139310550		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:36846737C>T	ENST00000279024.4	-	12	2859	c.2588G>A	c.(2587-2589)cGg>cAg	p.R863Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	863										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)				TTGCAGGCACCGCCTTCCTTC	0.582																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(2587-2589)cGg>cAg		KIAA1755		C	GLN/ARG	0,4406		0,0,2203	73	64	67		2588	-2.5	0.8	20	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KIAA1755	NM_001029864.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	863/1201	36846737	1,13005	2203	4300	6503	SO:0001583	missense	85449							g.chr20:36846737C>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2588G>A	20.37:g.36846737C>T	ENSP00000279024:p.Arg863Gln						p.R863Q	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			12	2859	-		Myeloproliferative disorder(115;0.00874)	863					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.2588G>A	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	2.186	-0.386424	0.04966	0.0	1.16E-4	ENSG00000149633	ENST00000279024;ENST00000373398;ENST00000435901	T;T	0.34072	3.52;1.38	4.91	-2.45	0.06481	.	1.215000	0.06258	N	0.693348	T	0.19327	0.0464	L	0.29908	0.895	0.09310	N	1	B;B	0.29037	0.231;0.043	B;B	0.15484	0.013;0.008	T	0.19224	-1.0312	10	0.09843	T	0.71	.	6.3098	0.21159	0.0:0.337:0.1437:0.5193	.	863;371	Q5JYT7;E9PFS1	K1755_HUMAN;.	Q	863;371;162	ENSP00000279024:R863Q;ENSP00000393503:R162Q	ENSP00000279024:R863Q	R	-	2	0	KIAA1755	36280151	0.000000	0.05858	0.762000	0.31397	0.010000	0.07245	-1.283000	0.02796	-0.219000	0.10003	-0.258000	0.10820	CGG		0.582	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		4	24	0	0	0	1	0	4	24					T	36846737	C	T	36846737	3	4	435	1	0	0	0	0	1	0	0	0	8257	652	23	2	1026	2	KIAA1755	20	36846737	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	56867	36846737	26178783	8640	29565											
BPI	671	broad.mit.edu	37	chr20	36937458	36937458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggcacaaaagagattCttgtgcgtttccatgcttgc	10	12	11	8	1	1	1	0	0	1	1	2	3	2	2	1	2	3	3	1	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:36937458C>A	ENST00000262865.4	+	3	473	c.384C>A	c.(382-384)ttC>ttA	p.F128L	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	128					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				AAAAGAGATTCTTGTGCGTTT	0.488																																						ENST00000262865.4																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(382-384)ttC>ttA		bactericidal/permeability-increasing protein							184	148	160					20																	36937458		2203	4300	6503	SO:0001583	missense	671				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	g.chr20:36937458C>A	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"BPI fold containing"	1095	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.384C>A	20.37:g.36937458C>A	ENSP00000262865:p.Phe128Leu					CTD-2308N23.2_ENST00000437016.1_RNA	p.F128L	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN			3	473	+		Myeloproliferative disorder(115;0.00878)	128					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.384C>A	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672831	0.47781	.	.	ENSG00000101425	ENST00000262865	T	0.05925	3.37	3.99	3.0	0.34707	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.423942	0.21929	N	0.067045	T	0.07638	0.0192	M	0.80508	2.5	0.09310	N	1	P	0.46952	0.887	B	0.37601	0.254	T	0.26224	-1.0109	10	0.16896	T	0.51	-20.1887	6.9606	0.24595	0.0:0.8671:0.0:0.1329	.	128	P17213	BPI_HUMAN	L	128	ENSP00000262865:F128L	ENSP00000262865:F128L	F	+	3	2	BPI	36370872	0.123000	0.22298	0.086000	0.20670	0.000000	0.00434	0.659000	0.24994	1.193000	0.43086	-0.355000	0.07637	TTC		0.488	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		14	45	1	0	1.3612e-06	1	1.41782e-06	14	45					A	36937458	C	A	36937458	3	1	435	1	0	0	0	0	1	0	0	0	1490	912	32	5	394	5	BPI	20	36937458	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	90721	36937458	26088062	8641	29566											
RALGAPB	57148	broad.mit.edu	37	chr20	37168467	37168467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcgagccatcagttctGtgtgcacctacattgtttat	9	13	10	9	1	2	0	1	0	1	0	2	2	2	1	2	1	4	3	2	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:37168467G>A	ENST00000262879.6	+	17	2712	c.2428G>A	c.(2428-2430)Gtg>Atg	p.V810M	RALGAPB_ENST00000397042.3_Missense_Mutation_p.V806M|RALGAPB_ENST00000397038.1_Missense_Mutation_p.V588M|RALGAPB_ENST00000397040.1_Missense_Mutation_p.V810M			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	810					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			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						CATCAGTTCTGTGTGCACCTA	0.468																																						ENST00000262879.6																			0				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						c.(2428-2430)Gtg>Atg		Ral GTPase activating protein, beta subunit (non-catalytic)							153	125	135					20																	37168467		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37168467G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.2428G>A	20.37:g.37168467G>A	ENSP00000262879:p.Val810Met					RALGAPB_ENST00000397038.1_Missense_Mutation_p.V588M|RALGAPB_ENST00000397040.1_Missense_Mutation_p.V810M|RALGAPB_ENST00000397042.3_Missense_Mutation_p.V806M	p.V810M			Q86X10	RLGPB_HUMAN			17	2712	+			810					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.2428G>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373757	0.82573	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.62	4.66	0.58398	.	0.182670	0.48286	D	0.000184	T	0.55178	0.1904	L	0.40543	1.245	0.58432	D	0.999999	P;P;P;P	0.35908	0.527;0.527;0.527;0.527	B;B;B;B	0.42138	0.377;0.377;0.377;0.377	T	0.59563	-0.7431	9	0.59425	D	0.04	.	14.8007	0.69913	0.0702:0.0:0.9298:0.0	.	638;810;806;810	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	M	810;806;810;588;810;638	.	ENSP00000262879:V810M	V	+	1	0	RALGAPB	36601881	1.000000	0.71417	0.990000	0.47175	0.982000	0.71751	5.998000	0.70653	2.648000	0.89879	0.591000	0.81541	GTG		0.468	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		10	39	0	0	0	1	0	10	39					A	37168467	G	A	37168467	3	1	435	1	0	0	0	0	1	0	0	0	13015	1377	48	3	2490	3	RALGAPB	20	37168467	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	231009	37168467	25857053	8642	29567											
RALGAPB	57148	broad.mit.edu	37	chr20	37194073	37194073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctgtattatgctgatGcccttacagaaattgctttt	9	16	9	7	0	0	2	0	1	0	1	0	2	0	2	1	1	5	4	1	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:37194073G>A	ENST00000262879.6	+	25	4053	c.3769G>A	c.(3769-3771)Gcc>Acc	p.A1257T	RALGAPB_ENST00000397042.3_Missense_Mutation_p.A1254T|RALGAPB_ENST00000397038.1_Missense_Mutation_p.A1036T|RALGAPB_ENST00000397040.1_Missense_Mutation_p.A1257T			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1257	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			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						TTATGCTGATGCCCTTACAGA	0.383																																						ENST00000262879.6																			0				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						c.(3769-3771)Gcc>Acc		Ral GTPase activating protein, beta subunit (non-catalytic)							252	236	242					20																	37194073		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37194073G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3769G>A	20.37:g.37194073G>A	ENSP00000262879:p.Ala1257Thr					RALGAPB_ENST00000397038.1_Missense_Mutation_p.A1036T|RALGAPB_ENST00000397040.1_Missense_Mutation_p.A1257T|RALGAPB_ENST00000397042.3_Missense_Mutation_p.A1254T	p.A1257T			Q86X10	RLGPB_HUMAN			25	4053	+			1257			Rap-GAP.		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.3769G>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	36	5.707424	0.96821	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29	5.63	5.63	0.86233	Rap/ran-GAP (1);	0.000000	0.85682	D	0.000000	D	0.95752	0.8618	L	0.58101	1.795	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.76071	0.987;0.987	D	0.93644	0.6967	10	0.22109	T	0.4	.	19.6895	0.95993	0.0:0.0:1.0:0.0	.	1254;1257	A2A2E9;Q86X10	.;RLGPB_HUMAN	T	1257;1254;1036;1257;1086	ENSP00000262879:A1257T;ENSP00000380235:A1254T;ENSP00000380231:A1036T;ENSP00000380233:A1257T;ENSP00000416646:A1086T	ENSP00000262879:A1257T	A	+	1	0	RALGAPB	36627487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.415000	0.97375	2.644000	0.89710	0.591000	0.81541	GCC		0.383	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		51	83	0	0	0	1	0	51	83					A	37194073	G	A	37194073	3	1	435	1	0	0	0	0	1	0	0	0	13015	1319	46	3	3863	3	RALGAPB	20	37194073	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25606	37194073	25831447	8643	29568											
DHX35	60625	broad.mit.edu	37	chr20	37659397	37659397	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaccctgcgtcagtcctctAtgcagagaagccgcctcgct	8	8	9	16	3	2	1	1	0	1	1	4	2	3	1	4	0	3	2	4	0	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:37659397A>C	ENST00000252011.3	+	20	1967	c.1934A>C	c.(1933-1935)tAt>tCt	p.Y645S	DHX35_ENST00000373323.4_Missense_Mutation_p.Y614S|DHX35_ENST00000373325.2_Intron	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	645					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TCAGTCCTCTATGCAGAGAAG	0.468																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(1933-1935)tAt>tCt		DEAH (Asp-Glu-Ala-His) box polypeptide 35							130	102	112					20																	37659397		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37659397A>C	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1934A>C	20.37:g.37659397A>C	ENSP00000252011:p.Tyr645Ser					DHX35_ENST00000373323.4_Missense_Mutation_p.Y614S|DHX35_ENST00000373325.2_Intron	p.Y645S	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			20	1967	+		Myeloproliferative disorder(115;0.00878)	645					A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.1934A>C	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.996911	0.74818	.	.	ENSG00000101452	ENST00000252011;ENST00000373323;ENST00000373321;ENST00000449559	T;T;T	0.30182	4.24;4.16;1.54	5.76	5.76	0.90799	Domain of unknown function DUF1605 (1);	0.054747	0.85682	D	0.000000	T	0.34366	0.0895	L	0.60012	1.86	0.80722	D	1	P;B	0.35575	0.51;0.267	B;B	0.35770	0.21;0.081	T	0.19943	-1.0290	10	0.87932	D	0	.	15.3444	0.74324	1.0:0.0:0.0:0.0	.	614;645	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	S	645;614;125;109	ENSP00000252011:Y645S;ENSP00000362420:Y614S;ENSP00000397997:Y109S	ENSP00000252011:Y645S	Y	+	2	0	DHX35	37092811	1.000000	0.71417	0.984000	0.44739	0.913000	0.54294	7.641000	0.83368	2.324000	0.78689	0.533000	0.62120	TAT		0.468	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		7	39	0	0	0	1	0	7	39					C	37659397	A	C	37659397	3	2	435	1	0	0	0	0	1	0	0	0	4508	449	16	5	2012	5	DHX35	20	37659397	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	465324	37659397	25366123	8644	29569											
DHX35	60625	broad.mit.edu	37	chr20	37662960	37662960	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttttatcaacaaggaacGgtaggaatgaactgagtctg	14	10	10	7	1	2	2	1	2	1	0	2	4	2	4	0	3	3	1	0	3	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:37662960G>A	ENST00000252011.3	+	21	2100	c.2067G>A	c.(2065-2067)acG>acA	p.T689T	DHX35_ENST00000373323.4_Splice_Site_p.T658T|DHX35_ENST00000373325.2_Splice_Site_p.T665T	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	689					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AACAAGGAACGGTAGGAATGA	0.453																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.e21+1		DEAH (Asp-Glu-Ala-His) box polypeptide 35							82	76	78					20																	37662960		2203	4300	6503	SO:0001630	splice_region_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37662960G>A	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.2067+1G>A	20.37:g.37662960G>A						DHX35_ENST00000373323.4_Splice_Site_p.T658_splice|DHX35_ENST00000373325.2_Splice_Site_p.T665_splice	p.T689_splice	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			21	2100	+		Myeloproliferative disorder(115;0.00878)	689					A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Splice_Site	SNP	ENST00000252011.3	37	c.2067_splice	CCDS13310.1																																																																																				0.453	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931	Silent	4	22	0	0	0	1	0	4	22					A	37662960	G	A	37662960	5	1	435	1	0	0	0	0	0	0	1	0	4508	1130	39	2	2149	2	DHX35	20	37662960	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3563	37662960	25362560	8645	29570											
LPIN3	64900	broad.mit.edu	37	chr20	39986551	39986551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagttcctgtactgctcggCgcgggccattggcatggcgg	5	9	15	12	4	0	0	0	0	0	0	2	0	1	0	2	5	2	4	2	5	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:39986551C>T	ENST00000373257.3	+	17	2160	c.2069C>T	c.(2068-2070)gCg>gTg	p.A690V		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	690	C-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			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)				TACTGCTCGGCGCGGGCCATT	0.617																																						ENST00000373257.3																			0				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						c.(2068-2070)gCg>gTg		lipin 3							48	53	51					20																	39986551		2203	4300	6503	SO:0001583	missense	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39986551C>T	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.2069C>T	20.37:g.39986551C>T	ENSP00000362354:p.Ala690Val						p.A690V	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			17	2160	+		Myeloproliferative disorder(115;0.000739)	690			C-LIP.		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	c.2069C>T	CCDS33469.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.510212|5.510212	0.96386|0.96386	.|.	.|.	ENSG00000132793|ENSG00000132793	ENST00000373257;ENST00000373259|ENST00000445975	T|.	0.78126|.	-1.15|.	5.37|5.37	5.37|5.37	0.77165|0.77165	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86678|0.86678	0.5990|0.5990	M|M	0.92691|0.92691	3.335|3.335	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.994;1.0|.	D|D	0.89778|0.89778	0.3959|0.3959	9|5	.|.	.|.	.|.	-17.9613|-17.9613	19.1228|19.1228	0.93371|0.93371	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	691;690|.	Q9BQK8-2;Q9BQK8|.	.;LPIN3_HUMAN|.	V|C	690;323|180	ENSP00000362354:A690V|.	.|.	A|R	+|+	2|1	0|0	LPIN3|LPIN3	39419965|39419965	1.000000|1.000000	0.71417|0.71417	0.273000|0.273000	0.24645|0.24645	0.939000|0.939000	0.58152|0.58152	5.773000|5.773000	0.68898|0.68898	2.505000|2.505000	0.84491|0.84491	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.617	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		21	24	0	0	0	1	0	21	24					T	39986551	C	T	39986551	3	4	435	1	0	0	0	0	1	0	0	0	8920	768	27	1	2131	1	LPIN3	20	39986551	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2323591	39986551	23038969	8646	29571											
CHD6	84181	broad.mit.edu	37	chr20	40033327	40033327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggcactgggttcggcaCagttctcatcaccgctgggc	7	8	14	12	2	2	0	2	0	1	0	4	0	2	0	1	5	0	5	1	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:40033327C>T	ENST00000373233.3	-	37	8231	c.8054G>A	c.(8053-8055)tGt>tAt	p.C2685Y	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2685					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGGTTCGGCACAGTTCTCATC	0.572																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(8053-8055)tGt>tAt		chromodomain helicase DNA binding protein 6							110	118	115					20																	40033327		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40033327C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.8054G>A	20.37:g.40033327C>T	ENSP00000362330:p.Cys2685Tyr					CHD6_ENST00000480022.1_5'UTR	p.C2685Y	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			37	8231	-		Myeloproliferative disorder(115;0.00425)	2685					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.8054G>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768574	0.49680	.	.	ENSG00000124177	ENST00000373233	D	0.89617	-2.54	5.99	5.05	0.67936	.	0.096640	0.46442	N	0.000283	D	0.84320	0.5446	L	0.34521	1.04	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.80817	-0.1213	10	0.72032	D	0.01	-4.9883	15.1961	0.73088	0.0:0.933:0.0:0.067	.	2685	Q8TD26	CHD6_HUMAN	Y	2685	ENSP00000362330:C2685Y	ENSP00000362330:C2685Y	C	-	2	0	CHD6	39466741	1.000000	0.71417	0.996000	0.52242	0.346000	0.29079	3.655000	0.54460	1.548000	0.49413	0.655000	0.94253	TGT		0.572	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			24	54	0	0	0	1	0	24	54					T	40033327	C	T	40033327	3	4	435	1	0	0	0	0	1	0	0	0	3329	478	17	3	97	3	CHD6	20	40033327	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	46776	40033327	22992193	8647	29572											
CHD6	84181	broad.mit.edu	37	chr20	40076586	40076586	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttcagcttttaggtagtAcagcatccggactcgcaaaa	12	12	8	9	2	1	0	1	0	0	0	3	1	2	1	1	2	3	5	1	2	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:40076586A>G	ENST00000373233.3	-	24	3886	c.3709T>C	c.(3709-3711)Tac>Cac	p.Y1237H	CHD6_ENST00000309279.7_Missense_Mutation_p.Y720H	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1237					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTAGGTAGTACAGCATCCGG	0.398																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(3709-3711)Tac>Cac		chromodomain helicase DNA binding protein 6							131	124	127					20																	40076586		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40076586A>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3709T>C	20.37:g.40076586A>G	ENSP00000362330:p.Tyr1237His					CHD6_ENST00000309279.7_Missense_Mutation_p.Y720H	p.Y1237H	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			24	3886	-		Myeloproliferative disorder(115;0.00425)	1237					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.3709T>C	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.849557	0.91277	.	.	ENSG00000124177	ENST00000373233;ENST00000309279	D;D	0.91792	-2.91;-2.91	5.65	5.65	0.86999	.	0.000000	0.49916	D	0.000137	D	0.94886	0.8347	M	0.64404	1.975	0.30836	N	0.736179	D;P	0.67145	0.996;0.947	D;P	0.67725	0.953;0.688	D	0.93867	0.7159	10	0.87932	D	0	-9.3501	15.0659	0.71996	1.0:0.0:0.0:0.0	.	720;1237	C9JFU2;Q8TD26	.;CHD6_HUMAN	H	1237;720	ENSP00000362330:Y1237H;ENSP00000308684:Y720H	ENSP00000308684:Y720H	Y	-	1	0	CHD6	39510000	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.287000	0.95975	2.156000	0.67533	0.533000	0.62120	TAC		0.398	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			23	122	0	0	0	1	0	23	122					G	40076586	A	G	40076586	3	3	435	1	0	0	0	0	1	0	0	0	3329	391	14	4	4494	4	CHD6	20	40076586	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	43259	40076586	22948934	8648	29573											
CHD6	84181	broad.mit.edu	37	chr20	40102132	40102132	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaggtttccccgtactcGcccatcaattcgctcatagg	7	10	9	15	4	2	0	2	0	0	0	5	0	3	0	3	2	1	4	3	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:40102132G>A	ENST00000373233.3	-	17	2671	c.2494C>T	c.(2494-2496)Cga>Tga	p.R832*	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	832	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCCCGTACTCGCCCATCAATT	0.537																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(2494-2496)Cga>Tga		chromodomain helicase DNA binding protein 6							83	75	78					20																	40102132		2203	4300	6503	SO:0001587	stop_gained	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40102132G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2494C>T	20.37:g.40102132G>A	ENSP00000362330:p.Arg832*					CHD6_ENST00000309279.7_Intron	p.R832*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			17	2671	-		Myeloproliferative disorder(115;0.00425)	832			Helicase C-terminal.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Nonsense_Mutation	SNP	ENST00000373233.3	37	c.2494C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	41	8.537393	0.98854	.	.	ENSG00000124177	ENST00000373233	.	.	.	5.45	4.46	0.54185	.	0.000000	0.44483	D	0.000445	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3315	13.4338	0.61071	0.0:0.0:0.7187:0.2813	.	.	.	.	X	832	.	ENSP00000362330:R832X	R	-	1	2	CHD6	39535546	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.154000	0.64894	2.571000	0.86741	0.650000	0.86243	CGA		0.537	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			25	25	0	0	0	1	0	25	25					A	40102132	G	A	40102132	4	1	435	1	0	0	0	0	0	1	0	0	3329	1095	38	1	5737	1	CHD6	20	40102132	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25546	40102132	22923388	8649	29574											
CHD6	84181	broad.mit.edu	37	chr20	40126825	40126825	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaaatttctatacttaacGtagaacagctccaagtcgaa	16	11	5	9	2	1	1	0	0	1	1	3	2	2	1	1	0	5	2	1	0	9	6	rs200662558		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:40126825G>A	ENST00000373233.3	-	7	1134	c.957C>T	c.(955-957)taC>taT	p.Y319Y	CHD6_ENST00000373222.3_Silent_p.Y354Y|CHD6_ENST00000309279.7_Silent_p.Y319Y	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	319	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TATACTTAACGTAGAACAGCT	0.383																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(955-957)taC>taT		chromodomain helicase DNA binding protein 6		G		0,4406		0,0,2203	60	58	59		957	4.4	1	20		59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHD6	NM_032221.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		319/2716	40126825	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40126825G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.957C>T	20.37:g.40126825G>A						CHD6_ENST00000373222.3_Silent_p.Y354Y|CHD6_ENST00000309279.7_Silent_p.Y319Y	p.Y319Y	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			7	1134	-		Myeloproliferative disorder(115;0.00425)	319			Chromo 1.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.957C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	8.416	0.845178	0.16963	0.0	1.16E-4	ENSG00000124177	ENST00000440697	.	.	.	5.36	4.42	0.53409	.	.	.	.	.	T	0.70072	0.3182	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69580	-0.5107	4	.	.	.	-14.4083	14.4186	0.67168	0.0712:0.0:0.9288:0.0	.	.	.	.	M	22	.	.	T	-	2	0	CHD6	39560239	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.102000	0.41796	1.415000	0.47037	0.650000	0.86243	ACG		0.383	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			17	23	0	0	0	1	0	17	23					A	40126825	G	A	40126825	2	1	435	1	0	0	0	0	0	0	0	1	3329	1140	40	1		1	CHD6	20	40126825	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24693	40126825	22898695	8650	29575											
L3MBTL	26013	broad.mit.edu	37	chr20	42169534	42169534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagcaggtgccctccccagCgtcacttctgctaaggaggg	8	7	13	13	1	2	0	1	0	1	0	3	2	3	1	3	3	4	2	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:42169534C>T	ENST00000373134.1	+	18	2237	c.2218C>T	c.(2218-2220)Cgt>Tgt	p.R740C	L3MBTL1_ENST00000418998.1_Intron|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.R735C|L3MBTL1_ENST00000373135.3_Intron|L3MBTL1_ENST00000427442.2_Intron			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	0	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CCCTCCCCAGCGTCACTTCTG	0.582																																						ENST00000444063.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(2203-2205)Cgt>Tgt		l(3)mbt-like 1 (Drosophila)							58	56	57					20																	42169534		2203	4300	6503	SO:0001583	missense	26013				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	g.chr20:42169534C>T	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"Zinc fingers, C2HC-type containing", "Sterile alpha motif (SAM) domain containing"	15905	protein-coding gene	gene with protein product	"lethal (3) malignant brain tumor l(3)"	608802	"l(3)mbt (Drosophila)-like", "l(3)mbt-like (Drosophila)"	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000373134.1:c.2218C>T	20.37:g.42169534C>T	ENSP00000362226:p.Arg740Cys					L3MBTL1_ENST00000427442.2_Intron|L3MBTL1_ENST00000418998.1_Intron|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.R740C|L3MBTL1_ENST00000373135.3_Intron	p.R735C			Q9Y468	LMBL1_HUMAN			18	2335	+			0			SAM.		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000373134.1	37	c.2203C>T		.	.	.	.	.	.	.	.	.	.	C	11.63	1.695288	0.30052	.	.	ENSG00000185513	ENST00000444063;ENST00000373134;ENST00000373133	T;T	0.21191	2.02;2.02	4.16	1.16	0.20824	.	.	.	.	.	T	0.11153	0.0272	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34775	-0.9815	7	.	.	.	.	5.6258	0.17482	0.0:0.6533:0.0:0.3467	.	387;735	Q9Y468-3;Q9Y468-2	.;.	C	735;740;387	ENSP00000403316:R735C;ENSP00000362226:R740C	.	R	+	1	0	L3MBTL1	41602948	0.000000	0.05858	0.008000	0.14137	0.001000	0.01503	-0.732000	0.04904	0.475000	0.27415	-0.232000	0.12228	CGT		0.582	L3MBTL1-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000079296.2	NM_032107		4	9	0	0	0	1	0	4	9					T	42169534	C	T	42169534	3	4	435	1	0	0	0	0	1	0	0	0	8591	768	27	1	2273	1	L3MBTL	20	42169534	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2042709	42169534	20855986	8651	29576											
MYBL2	4605	broad.mit.edu	37	chr20	42315709	42315709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatcgccaagatgttgccagGgaggtaagctgtcttcttgg	8	11	14	8	1	2	1	0	0	2	1	3	3	2	2	2	3	2	3	2	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:42315709G>T	ENST00000217026.4	+	5	624	c.497G>T	c.(496-498)gGg>gTg	p.G166V	MYBL2_ENST00000396863.4_Missense_Mutation_p.G142V	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	166	HTH myb-type 3. {ECO:0000255|PROSITE- ProRule:PRU00625}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ATGTTGCCAGGGAGGTAAGCT	0.617																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(496-498)gGg>gTg		v-myb avian myeloblastosis viral oncogene homolog-like 2							27	23	24					20																	42315709		2203	4297	6500	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42315709G>T		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.497G>T	20.37:g.42315709G>T	ENSP00000217026:p.Gly166Val					MYBL2_ENST00000396863.4_Missense_Mutation_p.G142V	p.G166V	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		5	624	+		Myeloproliferative disorder(115;0.00452)	166			HTH myb-type 3.		B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.497G>T	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509504	0.85282	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.57107	1.79;0.42	5.1	5.1	0.69264	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.84534	0.5493	H	0.99104	4.43	0.80722	D	1	D;D	0.69078	0.997;0.99	D;D	0.78314	0.991;0.924	D	0.91308	0.5072	10	0.87932	D	0	-43.1245	17.6578	0.88182	0.0:0.0:1.0:0.0	.	142;166	F8W6N6;P10244	.;MYBB_HUMAN	V	142;166	ENSP00000380072:G142V;ENSP00000217026:G166V	ENSP00000217026:G166V	G	+	2	0	MYBL2	41749123	1.000000	0.71417	0.999000	0.59377	0.844000	0.47949	9.726000	0.98782	2.538000	0.85594	0.462000	0.41574	GGG		0.617	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		11	10	1	0	2.68362e-12	1	2.90084e-12	11	10					T	42315709	G	T	42315709	3	4	435	1	0	0	0	0	1	0	0	0	10010	1232	43	5	515	5	MYBL2	20	42315709	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	146175	42315709	20709811	8652	29577											
MYBL2	4605	broad.mit.edu	37	chr20	42320929	42320929	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagctcgaggacaaggacggCctccagagtgcccagcccac	10	3	13	15	2	0	1	0	0	0	1	2	5	1	3	4	3	3	1	4	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:42320929C>T	ENST00000217026.4	+	6	760	c.633C>T	c.(631-633)ggC>ggT	p.G211G	MYBL2_ENST00000396863.4_Silent_p.G187G	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	211					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACAAGGACGGCCTCCAGAGTG	0.547																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(631-633)ggC>ggT		v-myb avian myeloblastosis viral oncogene homolog-like 2							72	74	74					20																	42320929		2203	4300	6503	SO:0001819	synonymous_variant	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42320929C>T		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.633C>T	20.37:g.42320929C>T						MYBL2_ENST00000396863.4_Silent_p.G187G	p.G211G	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		6	760	+		Myeloproliferative disorder(115;0.00452)	211					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	c.633C>T	CCDS13322.1																																																																																				0.547	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		21	27	0	0	0	1	0	21	27					T	42320929	C	T	42320929	2	4	435	1	0	0	0	0	0	0	0	1	10010	726	26	3		3	MYBL2	20	42320929	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5220	42320929	20704591	8653	29578											
MYBL2	4605	broad.mit.edu	37	chr20	42331427	42331427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcggcagaggaagaggCgtgtggctctgtcccctgtc	7	8	15	11	2	2	2	1	0	1	2	4	3	3	3	2	4	1	2	2	4	2	0	rs199513514		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:42331427C>T	ENST00000217026.4	+	8	1376	c.1249C>T	c.(1249-1251)Cgt>Tgt	p.R417C	MYBL2_ENST00000396863.4_Missense_Mutation_p.R393C	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	417					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R417C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GAGGAAGAGGCGTGTGGCTCT	0.617																																						ENST00000217026.4																			1	Substitution - Missense(1)	p.R417C(1)	kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(1249-1251)Cgt>Tgt		v-myb avian myeloblastosis viral oncogene homolog-like 2							108	85	92					20																	42331427		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42331427C>T		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1249C>T	20.37:g.42331427C>T	ENSP00000217026:p.Arg417Cys					MYBL2_ENST00000396863.4_Missense_Mutation_p.R393C	p.R417C	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		8	1376	+		Myeloproliferative disorder(115;0.00452)	417					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.1249C>T	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795831	0.70452	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.18338	2.22;2.22	4.99	3.93	0.45458	.	0.248943	0.35179	N	0.003398	T	0.20941	0.0504	N	0.24115	0.695	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	P;P	0.59056	0.851;0.791	T	0.00710	-1.1599	10	0.56958	D	0.05	-10.8439	10.1731	0.42922	0.3791:0.6209:0.0:0.0	.	393;417	F8W6N6;P10244	.;MYBB_HUMAN	C	393;417	ENSP00000380072:R393C;ENSP00000217026:R417C	ENSP00000217026:R417C	R	+	1	0	MYBL2	41764841	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	3.525000	0.53502	2.488000	0.83962	0.462000	0.41574	CGT		0.617	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		13	17	0	0	0	1	0	13	17					T	42331427	C	T	42331427	3	4	435	1	0	0	0	0	1	0	0	0	10010	768	27	1	1279	1	MYBL2	20	42331427	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10498	42331427	20694093	8654	29579											
TOX2	84969	broad.mit.edu	37	chr20	42635356	42635356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctgcctactcctatcaggCcatggacctcccagccatca	8	8	6	19	0	2	0	2	0	0	0	4	1	4	1	7	2	3	0	7	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:42635356C>T	ENST00000358131.5	+	3	570	c.362C>T	c.(361-363)gCc>gTc	p.A121V	TOX2_ENST00000341197.4_Missense_Mutation_p.A112V|TOX2_ENST00000372999.1_Missense_Mutation_p.A70V|TOX2_ENST00000423191.2_Missense_Mutation_p.A70V|RN7SL443P_ENST00000464331.2_RNA	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	121					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCCTATCAGGCCATGGACCTC	0.647																																						ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(361-363)gCc>gTc		TOX high mobility group box family member 2							99	74	83					20																	42635356		2203	4300	6503	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42635356C>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.362C>T	20.37:g.42635356C>T	ENSP00000350849:p.Ala121Val					TOX2_ENST00000423191.1_Missense_Mutation_p.A70V|TOX2_ENST00000372999.1_Missense_Mutation_p.A70V|TOX2_ENST00000341197.3_Missense_Mutation_p.A112V	p.A121V	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	570	+		Myeloproliferative disorder(115;0.00452)	121					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.362C>T	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297860	0.60086	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.24	3.09	0.35607	.	0.328094	0.28072	N	0.016711	T	0.34832	0.0911	N	0.22421	0.69	0.80722	D	1	P;D;P;P	0.61697	0.867;0.99;0.791;0.791	P;P;B;B	0.51701	0.542;0.677;0.138;0.34	T	0.10847	-1.0612	10	0.52906	T	0.07	.	6.9353	0.24463	0.3814:0.4878:0.1308:0.0	.	112;70;121;70	G3XAC7;A8K1J1;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	V	112;70;70;70;121	ENSP00000344724:A112V;ENSP00000396584:A70V;ENSP00000390278:A70V;ENSP00000362090:A70V;ENSP00000350849:A121V	ENSP00000344724:A112V	A	+	2	0	TOX2	42068770	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.124000	0.57924	1.162000	0.42619	0.655000	0.94253	GCC		0.647	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			12	16	0	0	0	1	0	12	16					T	42635356	C	T	42635356	3	4	435	1	0	0	0	0	1	0	0	0	16375	739	26	3	475	3	TOX2	20	42635356	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	303929	42635356	20390164	8655	29580											
TOX2	84969	broad.mit.edu	37	chr20	42694485	42694485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggacctgcaggccttccGcagtggggcctcccctgcca	4	7	13	17	2	0	0	0	0	0	0	3	1	2	1	7	4	2	2	7	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:42694485G>A	ENST00000358131.5	+	6	1248	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	TOX2_ENST00000341197.4_Missense_Mutation_p.R365H|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Missense_Mutation_p.R323H|TOX2_ENST00000423191.2_Missense_Mutation_p.R323H	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	347					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CAGGCCTTCCGCAGTGGGGCC	0.697																																						ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(1039-1041)cGc>cAc		TOX high mobility group box family member 2							53	57	56					20																	42694485		2203	4300	6503	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42694485G>A	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1040G>A	20.37:g.42694485G>A	ENSP00000350849:p.Arg347His					TOX2_ENST00000423191.1_Missense_Mutation_p.R323H|TOX2_ENST00000435864.2_Missense_Mutation_p.R243H|TOX2_ENST00000372999.1_Missense_Mutation_p.R323H|TOX2_ENST00000341197.3_Missense_Mutation_p.R365H	p.R347H	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1248	+		Myeloproliferative disorder(115;0.00452)	347					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.1040G>A	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675593	0.67928	.	.	ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	T;T;T;T;T	0.16597	2.72;2.73;2.73;2.33;2.49	5.11	4.16	0.48862	.	0.426017	0.27518	N	0.019018	T	0.32041	0.0816	L	0.48642	1.525	0.41391	D	0.987616	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.83275	0.987;0.996;0.991;0.991	T	0.02307	-1.1179	10	0.27785	T	0.31	.	12.5979	0.56481	0.0818:0.0:0.9182:0.0	.	243;365;347;323	B4DQV8;G3XAC7;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	H	365;323;323;347;243	ENSP00000344724:R365H;ENSP00000390278:R323H;ENSP00000362090:R323H;ENSP00000350849:R347H;ENSP00000396777:R243H	ENSP00000344724:R365H	R	+	2	0	TOX2	42127899	0.998000	0.40836	0.995000	0.50966	0.834000	0.47266	2.845000	0.48254	1.282000	0.44496	-0.136000	0.14681	CGC		0.697	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			23	25	0	0	0	1	0	23	25					A	42694485	G	A	42694485	3	1	435	1	0	0	0	0	1	0	0	0	16375	1087	38	1	1250	1	TOX2	20	42694485	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59129	42694485	20331035	8656	29581											
SERINC3	10955	broad.mit.edu	37	chr20	43135507	43135507	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatataatagaagccacaacGcaaaggatcaggttaatact	18	8	8	7	1	1	1	1	0	0	1	1	3	1	2	1	2	3	2	1	2	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:43135507G>A	ENST00000342374.4	-	6	901	c.744C>T	c.(742-744)tgC>tgT	p.C248C	SERINC3_ENST00000255175.1_Silent_p.C248C|SERINC3_ENST00000541235.1_Silent_p.C193C	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	248					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			AAGCCACAACGCAAAGGATCA	0.373																																						ENST00000342374.4																			0				endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18						c.(742-744)tgC>tgT		serine incorporator 3							108	100	102					20																	43135507		2203	4300	6503	SO:0001819	synonymous_variant	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43135507G>A	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"tumor differentially expressed 1"	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.744C>T	20.37:g.43135507G>A						SERINC3_ENST00000255175.1_Silent_p.C248C|SERINC3_ENST00000541235.1_Silent_p.C193C	p.C248C	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		6	901	-		Myeloproliferative disorder(115;0.0122)	248					B4DUE9|O43717|Q9BR33	Silent	SNP	ENST00000342374.4	37	c.744C>T	CCDS13333.1																																																																																				0.373	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		23	34	0	0	0	1	0	23	34					A	43135507	G	A	43135507	2	1	435	1	0	0	0	0	0	0	0	1	14081	1079	38	1		1	SERINC3	20	43135507	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	441022	43135507	19890013	8657	29582											
YWHAB	7529	broad.mit.edu	37	chr20	43530232	43530232	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactcgctgagcaggctgagCgatatgatgatatggctgca	11	9	13	8	2	0	4	0	4	0	0	1	5	0	4	0	2	4	5	0	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:43530232C>T	ENST00000372839.3	+	3	332	c.58C>T	c.(58-60)Cga>Tga	p.R20*	YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Nonsense_Mutation_p.R20*	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	20					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				GCAGGCTGAGCGATATGATGA	0.458																																						ENST00000372839.3																			0				breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12						c.(58-60)Cga>Tga		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide							69	67	68					20																	43530232		2203	4300	6503	SO:0001587	stop_gained	7529				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	g.chr20:43530232C>T	X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"14-3-3 beta", "14-3-3 alpha"	601289	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide", "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.58C>T	20.37:g.43530232C>T	ENSP00000361930:p.Arg20*					YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Nonsense_Mutation_p.R20*	p.R20*	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN			3	332	+		Myeloproliferative disorder(115;0.0122)	20					A8K9K2|E1P616	Nonsense_Mutation	SNP	ENST00000372839.3	37	c.58C>T	CCDS13339.1	.	.	.	.	.	.	.	.	.	.	C	36	5.937782	0.97122	.	.	ENSG00000166913	ENST00000353703;ENST00000372839;ENST00000428262;ENST00000445830	.	.	.	5.65	5.65	0.86999	.	0.045255	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6777	20.1057	0.97893	0.0:1.0:0.0:0.0	.	.	.	.	X	20	.	ENSP00000300161:R20X	R	+	1	2	YWHAB	42963646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.827000	0.97445	0.650000	0.86243	CGA		0.458	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3	NM_003404		28	37	0	0	0	1	0	28	37					T	43530232	C	T	43530232	4	4	435	1	0	0	0	0	0	1	0	0	17498	760	27	1	60	1	YWHAB	20	43530232	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	394725	43530232	19495288	8658	29583											
STK4	6789	broad.mit.edu	37	chr20	43703711	43703711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggctcttggccctggaccCcatgatggagcaggagattg	8	8	15	10	0	1	2	0	1	1	1	1	6	1	4	3	5	1	2	3	5	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:43703711C>T	ENST00000372806.3	+	11	1453	c.1358C>T	c.(1357-1359)cCc>cTc	p.P453L	STK4_ENST00000372801.1_3'UTR|STK4_ENST00000499879.2_Missense_Mutation_p.P398L	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	453	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GCCCTGGACCCCATGATGGAG	0.517																																					GBM(187;1039 2137 11798 21916 33213)	ENST00000372806.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(1357-1359)cCc>cTc		serine/threonine kinase 4							60	57	58					20																	43703711		2203	4300	6503	SO:0001583	missense	6789				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	g.chr20:43703711C>T		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"mammalian sterile 20-like 1", "yeast Ste20-like", "kinase responsive to stress 2"	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.1358C>T	20.37:g.43703711C>T	ENSP00000361892:p.Pro453Leu					STK4_ENST00000372801.1_3'UTR|STK4_ENST00000499879.2_Missense_Mutation_p.P398L	p.P453L	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN			11	1453	+		Myeloproliferative disorder(115;0.0122)	453			SARAH.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.1358C>T	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540514	0.65085	.	.	ENSG00000101109	ENST00000372806;ENST00000499879	T;T	0.71698	-0.59;0.39	5.81	5.81	0.92471	SARAH domain (1);SARAH (1);	0.000000	0.85682	D	0.000000	T	0.68869	0.3048	L	0.49350	1.555	0.80722	D	1	B;B	0.18013	0.02;0.025	B;B	0.21360	0.033;0.034	T	0.62139	-0.6917	10	0.37606	T	0.19	.	20.074	0.97736	0.0:1.0:0.0:0.0	.	398;453	F5H5B4;Q13043	.;STK4_HUMAN	L	453;398	ENSP00000361892:P453L;ENSP00000443514:P398L	ENSP00000361892:P453L	P	+	2	0	STK4	43137125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.432000	0.80349	2.746000	0.94184	0.655000	0.94253	CCC		0.517	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		16	36	0	0	0	1	0	16	36					T	43703711	C	T	43703711	3	4	435	1	0	0	0	0	1	0	0	0	15305	623	22	3	1400	3	STK4	20	43703711	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	173479	43703711	19321809	8659	29584											
SEMG2	6407	broad.mit.edu	37	chr20	43851292	43851292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagtcaagatcaagagcatgGccataaggaaaataaaatat	20	8	8	5	0	2	2	2	0	0	2	2	3	2	3	1	2	1	1	1	2	9	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:43851292G>A	ENST00000372769.3	+	2	1109	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	340	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CAAGAGCATGGCCATAAGGAA	0.378																																						ENST00000372769.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1018-1020)gGc>gAc		semenogelin II							76	73	74					20																	43851292		2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851292G>A		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1019G>A	20.37:g.43851292G>A	ENSP00000361855:p.Gly340Asp						p.G340D	NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN			2	1109	+		Myeloproliferative disorder(115;0.0122)	340			4 X 60 AA tandem repeats, type I.|Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.1019G>A	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307558	0.23821	.	.	ENSG00000124157	ENST00000372769	T	0.08807	3.05	0.945	-0.076	0.13724	.	.	.	.	.	T	0.18923	0.0454	L	0.61036	1.89	0.09310	N	1	D;D;D	0.89917	0.993;1.0;1.0	P;D;D	0.97110	0.883;1.0;1.0	T	0.11916	-1.0568	9	0.49607	T	0.09	.	3.3032	0.06990	0.3107:0.0:0.6893:0.0	.	340;340;340	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	D	340	ENSP00000361855:G340D	ENSP00000361855:G340D	G	+	2	0	SEMG2	43284706	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.179000	0.09768	-0.021000	0.14009	-0.474000	0.04947	GGC		0.378	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		18	41	0	0	0	1	0	18	41					A	43851292	G	A	43851292	3	1	435	1	0	0	0	0	1	0	0	0	14045	1203	42	3	1025	3	SEMG2	20	43851292	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	147581	43851292	19174228	8660	29585											
MATN4	8785	broad.mit.edu	37	chr20	43932934	43932934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggactctacgaggaagaCgtgctcgtctagcgggggcg	9	6	17	9	5	2	1	0	0	2	1	3	5	2	3	0	4	3	1	0	4	4	2	rs202071474	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:43932934C>T	ENST00000372754.1	-	2	585	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000342716.4_Missense_Mutation_p.V193I|MATN4_ENST00000372756.1_Missense_Mutation_p.V193I|MATN4_ENST00000353917.5_Missense_Mutation_p.V193I|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000537548.1_Missense_Mutation_p.V193I|MATN4_ENST00000372751.4_Intron|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000360607.6_Missense_Mutation_p.V193I			O95460	MATN4_HUMAN	matrilin 4	193	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ACGAGGAAGACGTGCTCGTCT	0.657													C|||	2	0.000399361	0	0	5008	,	,		16902	0		0.001	False		,,,				2504	0.001					ENST00000537548.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(577-579)Gtc>Atc		matrilin 4							45	43	44					20																	43932934		2203	4299	6502	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43932934C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.577G>A	20.37:g.43932934C>T	ENSP00000361840:p.Val193Ile					MATN4_ENST00000353917.5_Missense_Mutation_p.V193I|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.V193I|MATN4_ENST00000372754.1_Missense_Mutation_p.V193I|MATN4_ENST00000360607.5_Missense_Mutation_p.V193I|MATN4_ENST00000372756.1_Missense_Mutation_p.V193I|MATN4_ENST00000372751.4_Intron	p.V193I			O95460	MATN4_HUMAN			4	821	-		Myeloproliferative disorder(115;0.0122)	193			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.577G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.6	4.553663	0.86231	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	4.81	4.81	0.61882	.	0.000000	0.39834	N	0.001256	D	0.88444	0.6438	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	P;D;D	0.85130	0.863;0.997;0.96	D	0.88372	0.2995	10	0.48119	T	0.1	.	17.0299	0.86458	0.0:1.0:0.0:0.0	.	193;193;193	A6NNA4;O95460-4;O95460-2	.;.;.	I	193	ENSP00000361840:V193I;ENSP00000361842:V193I;ENSP00000243983:V193I;ENSP00000353819:V193I;ENSP00000343164:V193I;ENSP00000440328:V193I	ENSP00000255132:V193I	V	-	1	0	MATN4	43366348	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.893000	0.69798	2.506000	0.84524	0.462000	0.41574	GTC		0.657	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			12	21	0	0	0	1	0	12	21					T	43932934	C	T	43932934	3	4	435	1	0	0	0	0	1	0	0	0	9336	536	19	1	1200	1	MATN4	20	43932934	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	81642	43932934	19092586	8661	29586											
RBPJL	11317	broad.mit.edu	37	chr20	43940962	43940962	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcgggggccgggagctgggTaccttccacagccgccttat	5	7	15	14	4	0	0	0	0	0	0	1	1	1	1	5	4	3	2	5	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:43940962T>C	ENST00000343694.3	+	6	618	c.546T>C	c.(544-546)ggT>ggC	p.G182G	RBPJL_ENST00000372741.3_Silent_p.G182G|RBPJL_ENST00000372743.1_Silent_p.G182G	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	182					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GGGAGCTGGGTACCTTCCACA	0.622																																						ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(544-546)ggT>ggC		recombination signal binding protein for immunoglobulin kappa J region-like							30	33	32					20																	43940962		2203	4299	6502	SO:0001819	synonymous_variant	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43940962T>C	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.546T>C	20.37:g.43940962T>C						RBPJL_ENST00000372743.1_Silent_p.G182G|RBPJL_ENST00000372741.3_Silent_p.G182G	p.G182G	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN			6	618	+		Myeloproliferative disorder(115;0.0122)	182					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Silent	SNP	ENST00000343694.3	37	c.546T>C	CCDS13349.1																																																																																				0.622	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		7	8	0	0	0	1	0	7	8					C	43940962	T	C	43940962	2	2	435	1	0	0	0	0	0	0	0	1	13162	1625	57	4		4	RBPJL	20	43940962	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	8028	43940962	19084558	8662	29587											
SDC4	6385	broad.mit.edu	37	chr20	43956030	43956030	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagacggcaaagaggatGcccacgatgccacccacaat	15	3	11	12	2	0	2	0	0	0	2	0	5	0	4	3	3	2	1	3	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:43956030G>A	ENST00000372733.3	-	5	510	c.471C>T	c.(469-471)ggC>ggT	p.G157G	SDC4_ENST00000537976.1_Silent_p.G85G	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	157					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				CAAAGAGGATGCCCACGATGC	0.537			T	ROS1	NSCLC																																	ENST00000372733.3				Dom	yes		20	20q12	6385	T	syndecan 4			E	ROS1		NSCLC	SDC4/ROS1(7)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5						c.(469-471)ggC>ggT		syndecan 4							87	79	82					20																	43956030		2203	4300	6503	SO:0001819	synonymous_variant	6385					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	g.chr20:43956030G>A	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"Proteoglycans / Cell Surface : Syndecans"	10661	protein-coding gene	gene with protein product	"syndecan proteoglycan 4"	600017	"syndecan 4 (amphiglycan, ryudocan)"			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.471C>T	20.37:g.43956030G>A						SDC4_ENST00000537976.1_Silent_p.G85G	p.G157G	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN			5	510	-		Myeloproliferative disorder(115;0.0122)	157					O00773|Q16833|Q53FN9|Q6FGN3	Silent	SNP	ENST00000372733.3	37	c.471C>T	CCDS13350.1																																																																																				0.537	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999		14	18	0	0	0	1	0	14	18					A	43956030	G	A	43956030	2	1	435	1	0	0	0	0	0	0	0	1	13954	1306	46	3		3	SDC4	20	43956030	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15068	43956030	19069490	8663	29588											
SDC4	6385	broad.mit.edu	37	chr20	43961680	43961680	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaagggatggacaacttCagggccgatcatggagtctt	11	9	12	9	1	3	0	2	0	1	0	3	4	3	3	2	4	2	0	2	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:43961680C>A	ENST00000372733.3	-	3	268	c.229G>T	c.(229-231)Gaa>Taa	p.E77*	SDC4_ENST00000537976.1_Nonsense_Mutation_p.E5*	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	77					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				TGGACAACTTCAGGGCCGATC	0.502			T	ROS1	NSCLC																																	ENST00000372733.3				Dom	yes		20	20q12	6385	T	syndecan 4			E	ROS1		NSCLC	SDC4/ROS1(7)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5						c.(229-231)Gaa>Taa		syndecan 4							192	155	167					20																	43961680		2203	4300	6503	SO:0001587	stop_gained	6385					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	g.chr20:43961680C>A	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"Proteoglycans / Cell Surface : Syndecans"	10661	protein-coding gene	gene with protein product	"syndecan proteoglycan 4"	600017	"syndecan 4 (amphiglycan, ryudocan)"			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.229G>T	20.37:g.43961680C>A	ENSP00000361818:p.Glu77*					SDC4_ENST00000537976.1_Nonsense_Mutation_p.E5*	p.E77*	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN			3	268	-		Myeloproliferative disorder(115;0.0122)	77					O00773|Q16833|Q53FN9|Q6FGN3	Nonsense_Mutation	SNP	ENST00000372733.3	37	c.229G>T	CCDS13350.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452815	0.43531	.	.	ENSG00000124145	ENST00000372733;ENST00000537976	.	.	.	4.54	-0.655	0.11439	.	1.093280	0.06765	N	0.782500	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-7.2571	7.1779	0.25755	0.0:0.4944:0.0:0.5056	.	.	.	.	X	77;5	.	ENSP00000361818:E77X	E	-	1	0	SDC4	43395094	0.000000	0.05858	0.011000	0.14972	0.041000	0.13682	-0.738000	0.04871	0.015000	0.14971	-0.252000	0.11476	GAA		0.502	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999		8	34	1	0	0.0381472	1	0.0383569	8	34					A	43961680	C	A	43961680	4	1	435	1	0	0	0	0	0	1	0	0	13954	835	29	5	379	5	SDC4	20	43961680	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5650	43961680	19063840	8664	29589											
TP53TG5	27296	broad.mit.edu	37	chr20	44003714	44003714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cataggcatttcaagtgatgCggagcagaagcgggtgcagc	11	7	15	8	2	1	2	1	1	0	1	1	3	1	3	0	3	5	3	0	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:44003714C>T	ENST00000372726.3	-	4	889	c.733G>A	c.(733-735)Gca>Aca	p.A245T	SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.A229T|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000426004.1_3'UTR|TP53TG5_ENST00000494455.1_5'Flank	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	245					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TCAAGTGATGCGGAGCAGAAG	0.617																																						ENST00000372726.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(733-735)Gca>Aca		TP53 target 5							65	64	64					20																	44003714		2203	4300	6503	SO:0001583	missense	27296				intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus		g.chr20:44003714C>T	AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 10"	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.733G>A	20.37:g.44003714C>T	ENSP00000361811:p.Ala245Thr					SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000426004.1_3'UTR|TP53TG5_ENST00000537995.1_Missense_Mutation_p.A229T|SYS1-DBNDD2_ENST00000475242.1_Intron	p.A245T	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN			4	889	-			245						Missense_Mutation	SNP	ENST00000372726.3	37	c.733G>A	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395533	0.83011	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.22539	1.95;1.95	5.72	5.72	0.89469	.	0.085770	0.50627	D	0.000109	T	0.42494	0.1205	L	0.49778	1.585	0.36643	D	0.876978	D	0.89917	1.0	D	0.83275	0.996	T	0.42582	-0.9443	10	0.66056	D	0.02	-7.4054	16.6161	0.84916	0.0:1.0:0.0:0.0	.	245	Q9Y2B4	T53G5_HUMAN	T	245;229	ENSP00000361811:A245T;ENSP00000438374:A229T	ENSP00000361811:A245T	A	-	1	0	TP53TG5	43437128	0.165000	0.22948	0.903000	0.35520	0.625000	0.37756	1.530000	0.36007	2.691000	0.91804	0.655000	0.94253	GCA		0.617	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477		23	29	0	0	0	1	0	23	29					T	44003714	C	T	44003714	3	4	435	1	0	0	0	0	1	0	0	0	16388	768	27	1	147	1	TP53TG5	20	44003714	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	42034	44003714	19021806	8665	29590											
PIGT	51604	broad.mit.edu	37	chr20	44049219	44049219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccactacatatcaggacGtcatcctaggcactcggaag	12	7	9	13	3	2	0	2	0	0	0	4	3	3	2	2	3	1	1	2	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:44049219G>A	ENST00000279036.6	+	8	999	c.919G>A	c.(919-921)Gtc>Atc	p.V307I	PIGT_ENST00000372689.5_Missense_Mutation_p.V307I|PIGT_ENST00000535404.1_Missense_Mutation_p.V152I|PIGT_ENST00000543458.2_Missense_Mutation_p.V251I|PIGT_ENST00000341555.5_Missense_Mutation_p.V113I|PIGT_ENST00000279035.9_Missense_Mutation_p.V205I|PIGT_ENST00000545755.1_Missense_Mutation_p.V45I	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	307					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				ATATCAGGACGTCATCCTAGG	0.532																																						ENST00000279036.6																			0				breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22						c.(919-921)Gtc>Atc		phosphatidylinositol glycan anchor biosynthesis, class T							138	100	113					20																	44049219		2203	4300	6503	SO:0001583	missense	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44049219G>A		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"Phosphatidylinositol glycan anchor biosynthesis"	14938	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610272	"phosphatidylinositol glycan, class T"			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.919G>A	20.37:g.44049219G>A	ENSP00000279036:p.Val307Ile					PIGT_ENST00000543458.2_Missense_Mutation_p.V251I|PIGT_ENST00000279035.9_Missense_Mutation_p.V205I|PIGT_ENST00000372689.5_Missense_Mutation_p.V307I|PIGT_ENST00000341555.5_Missense_Mutation_p.V113I|PIGT_ENST00000545755.1_Missense_Mutation_p.V45I|PIGT_ENST00000535404.1_Missense_Mutation_p.V152I	p.V307I	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN			8	999	+		Myeloproliferative disorder(115;0.0122)	307					B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	ENST00000279036.6	37	c.919G>A	CCDS13353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.214|6.214	0.407574|0.407574	0.11754|0.11754	.|.	.|.	ENSG00000124155|ENSG00000124155	ENST00000432270|ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000455050;ENST00000545755;ENST00000341555;ENST00000535404	.|T;T;T;T;T;T;T	.|0.44083	.|0.95;1.0;0.95;0.95;0.95;0.96;0.93	5.38|5.38	3.39|3.39	0.38822|0.38822	.|.	.|0.360538	.|0.27876	.|N	.|0.017498	T|T	0.20901|0.20901	0.0503|0.0503	N|N	0.25144|0.25144	0.715|0.715	0.40078|0.40078	D|D	0.976096|0.976096	.|B;B;B;B;B;B;P;B;B	.|0.35982	.|0.027;0.012;0.143;0.023;0.013;0.403;0.531;0.051;0.008	.|B;B;B;B;B;B;B;B;B	.|0.24974	.|0.033;0.007;0.018;0.015;0.015;0.024;0.057;0.022;0.008	T|T	0.06445|0.06445	-1.0826|-1.0826	5|10	.|0.19590	.|T	.|0.45	-23.8665|-23.8665	7.4098|7.4098	0.27011|0.27011	0.3112:0.0:0.6888:0.0|0.3112:0.0:0.6888:0.0	.|.	.|145;205;152;251;45;113;163;45;307	.|B7Z3L1;Q969N2-4;F5GWY0;B7Z3N1;B7ZAP3;Q969N2-2;Q969N2-3;B7Z1N3;Q969N2	.|.;.;.;.;.;.;.;.;PIGT_HUMAN	H|I	104|251;307;205;307;205;45;113;152	.|ENSP00000441577:V251I;ENSP00000361774:V307I;ENSP00000279035:V205I;ENSP00000279036:V307I;ENSP00000443963:V45I;ENSP00000343783:V113I;ENSP00000440528:V152I	.|ENSP00000279035:V205I	R|V	+|+	2|1	0|0	PIGT|PIGT	43482633|43482633	0.957000|0.957000	0.32711|0.32711	0.661000|0.661000	0.29709|0.29709	0.005000|0.005000	0.04900|0.04900	1.566000|1.566000	0.36396|0.36396	0.767000|0.767000	0.33267|0.33267	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.532	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		5	34	0	0	0	1	0	5	34					A	44049219	G	A	44049219	3	1	435	1	0	0	0	0	1	0	0	0	11899	1145	40	1	949	1	PIGT	20	44049219	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	45505	44049219	18976301	8666	29591											
WFDC8	90199	broad.mit.edu	37	chr20	44184457	44184457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaaagtcaaaatgccagcGctgtgcctcatgattacagt	12	12	8	9	1	2	1	2	1	0	0	2	1	2	1	2	0	4	1	2	0	5	3	rs545695082	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:44184457G>A	ENST00000357199.4	-	4	406	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	WFDC8_ENST00000289953.2_Missense_Mutation_p.R110C	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	110	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R110C(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				AAATGCCAGCGCTGTGCCTCA	0.458													G|||	2	0.000399361	0.0015	0	5008	,	,		20764	0		0	False		,,,				2504	0					ENST00000357199.4																			1	Substitution - Missense(1)	p.R110C(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(328-330)Cgc>Tgc		WAP four-disulfide core domain 8							112	100	104					20																	44184457		2203	4300	6503	SO:0001583	missense	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44184457G>A	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"WAP four-disulfide core domain containing"	16163	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 170"	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.328C>T	20.37:g.44184457G>A	ENSP00000361735:p.Arg110Cys					WFDC8_ENST00000289953.2_Missense_Mutation_p.R110C	p.R110C	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN			4	406	-		Myeloproliferative disorder(115;0.0122)	110			BPTI/Kunitz inhibitor.		E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	37	c.328C>T	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927543	0.52759	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	T;T	0.63096	-0.02;-0.02	4.26	3.29	0.37713	Proteinase inhibitor I2, Kunitz metazoa (5);	0.463132	0.20651	N	0.088214	T	0.81597	0.4856	H	0.94264	3.515	0.09310	N	0.999994	D	0.89917	1.0	D	0.67103	0.949	T	0.73033	-0.4110	10	0.87932	D	0	.	9.5521	0.39317	0.0:0.0:0.7905:0.2095	.	110	Q8IUA0	WFDC8_HUMAN	C	110	ENSP00000361735:R110C;ENSP00000289953:R110C	ENSP00000289953:R110C	R	-	1	0	WFDC8	43617871	0.065000	0.20965	0.011000	0.14972	0.059000	0.15707	2.441000	0.44864	1.358000	0.45922	0.655000	0.94253	CGC		0.458	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			25	41	0	0	0	1	0	25	41					A	44184457	G	A	44184457	3	1	435	1	0	0	0	0	1	0	0	0	17353	1087	38	1	409	1	WFDC8	20	44184457	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	135238	44184457	18841063	8667	29592											
DNTTIP1	116092	broad.mit.edu	37	chr20	44433838	44433838	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgttgggatctcgagcCaacaagtaagtttaagagct	11	13	11	6	1	1	1	0	0	1	1	2	3	1	2	1	1	3	4	1	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:44433838C>T	ENST00000372622.3	+	9	725	c.657C>T	c.(655-657)gcC>gcT	p.A219A		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	219						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GATCTCGAGCCAACAAGTAAG	0.448																																						ENST00000372622.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.(655-657)gcC>gcT		deoxynucleotidyltransferase, terminal, interacting protein 1							186	190	188					20																	44433838		2203	4300	6503	SO:0001819	synonymous_variant	116092					nucleus		g.chr20:44433838C>T	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.657C>T	20.37:g.44433838C>T							p.A219A	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN			9	725	+		Myeloproliferative disorder(115;0.0122)	219					B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	ENST00000372622.3	37	c.657C>T	CCDS13369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.25|10.25	1.297932|1.297932	0.23650|0.23650	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000435014|ENST00000456939	.|.	.|.	.|.	4.86|4.86	3.89|3.89	0.44902|0.44902	.|.	.|.	.|.	.|.	.|.	T|.	0.54631|.	0.1870|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.51140|.	-0.8743|.	4|.	.|.	.|.	.|.	-11.1775|-11.1775	5.7038|5.7038	0.17897|0.17897	0.3509:0.5587:0.0:0.0905|0.3509:0.5587:0.0:0.0905	.|.	.|.	.|.	.|.	L|X	146|170	.|.	.|.	P|Q	+|+	2|1	0|0	DNTTIP1|DNTTIP1	43867245|43867245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.745000|0.745000	0.26259|0.26259	1.209000|1.209000	0.43321|0.43321	0.514000|0.514000	0.50259|0.50259	CCA|CAA		0.448	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		20	108	0	0	0	1	0	20	108					T	44433838	C	T	44433838	2	4	435	1	0	0	0	0	0	0	0	1	4681	581	21	3		3	DNTTIP1	20	44433838	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	249381	44433838	18591682	8668	29593											
SNX21	90203	broad.mit.edu	37	chr20	44469548	44469548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacctgcaggacttcttcGtgctgccggagctgcggcgg	4	8	16	13	5	1	0	0	0	1	0	2	3	1	3	2	5	5	3	2	5	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:44469548G>A	ENST00000491381.1	+	4	786	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	SNX21_ENST00000342644.5_Intron|SNX21_ENST00000372542.1_Missense_Mutation_p.V231M|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000462307.1_3'UTR			Q969T3	SNX21_HUMAN	sorting nexin family member 21	240	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GGACTTCTTCGTGCTGCCGGA	0.647																																						ENST00000372542.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(691-693)Gtg>Atg		sorting nexin family member 21							26	29	28					20																	44469548		2202	4294	6496	SO:0001583	missense	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44469548G>A	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"Sorting nexins", "Tetratricopeptide (TTC) repeat domain containing"	16154	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 161"	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.718G>A	20.37:g.44469548G>A	ENSP00000418593:p.Val240Met					SNX21_ENST00000491381.1_Missense_Mutation_p.V240M|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron|SNX21_ENST00000462307.1_3'UTR	p.V231M			Q969T3	SNX21_HUMAN			3	1003	+		Myeloproliferative disorder(115;0.0122)	240			PX.		Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Missense_Mutation	SNP	ENST00000491381.1	37	c.691G>A	CCDS13377.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986943	0.53934	.	.	ENSG00000124104	ENST00000491381;ENST00000372542	T;T	0.64260	-0.09;-0.09	4.32	2.2	0.27929	Phox homologous domain (4);	0.213089	0.40554	N	0.001073	T	0.31040	0.0784	N	0.02539	-0.55	0.80722	D	1	P;P	0.50156	0.932;0.932	B;B	0.43867	0.434;0.434	T	0.06972	-1.0797	10	0.35671	T	0.21	-17.1691	3.255	0.06828	0.2241:0.0:0.4442:0.3317	.	231;240	Q5JZH3;Q969T3	.;SNX21_HUMAN	M	240;231	ENSP00000418593:V240M;ENSP00000361620:V231M	ENSP00000361620:V231M	V	+	1	0	SNX21	43902955	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	1.768000	0.38511	1.048000	0.40298	0.462000	0.41574	GTG		0.647	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		22	32	0	0	0	1	0	22	32					A	44469548	G	A	44469548	3	1	435	1	0	0	0	0	1	0	0	0	14893	1145	40	1	747	1	SNX21	20	44469548	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	35710	44469548	18555972	8669	29594											
ZSWIM3	140831	broad.mit.edu	37	chr20	44505430	44505430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcagacatgtgcccagCgtacttgctcctaaggtaca	10	8	12	11	1	0	1	0	0	0	1	1	2	1	2	2	3	5	4	2	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:44505430C>T	ENST00000255152.2	+	2	442	c.233C>T	c.(232-234)gCg>gTg	p.A78V	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.A72V	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	78							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				ATGTGCCCAGCGTACTTGCTC	0.463																																						ENST00000255152.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35						c.(232-234)gCg>gTg		zinc finger, SWIM-type containing 3							119	106	111					20																	44505430		2203	4300	6503	SO:0001583	missense	140831						zinc ion binding	g.chr20:44505430C>T	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"Zinc fingers, SWIM-type"	16157	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 174"		"chromosome 20 open reading frame 164"	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.233C>T	20.37:g.44505430C>T	ENSP00000255152:p.Ala78Val					ZSWIM3_ENST00000454862.2_Missense_Mutation_p.A72V	p.A78V	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN			2	442	+		Myeloproliferative disorder(115;0.0122)	78					Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	c.233C>T	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891381	0.52014	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.36878	1.3;1.23	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000003	T	0.51329	0.1668	L	0.34521	1.04	0.45962	D	0.998785	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.46048	-0.9219	10	0.48119	T	0.1	-15.7931	18.868	0.92301	0.0:1.0:0.0:0.0	.	72;78	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	V	78;72	ENSP00000255152:A78V;ENSP00000406313:A72V	ENSP00000255152:A78V	A	+	2	0	ZSWIM3	43938837	0.997000	0.39634	0.965000	0.40720	0.046000	0.14306	4.606000	0.61126	2.797000	0.96272	0.561000	0.74099	GCG		0.463	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		29	35	0	0	0	1	0	29	35					T	44505430	C	T	44505430	3	4	435	1	0	0	0	0	1	0	0	0	18239	768	27	1	239	1	ZSWIM3	20	44505430	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	35882	44505430	18520090	8670	29595											
ZSWIM3	140831	broad.mit.edu	37	chr20	44505965	44505965	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactttgctgtgctcaaggcGgagacagtcacctctgtggc	7	10	12	12	1	3	1	2	0	1	1	3	2	3	1	1	3	2	2	1	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:44505965G>A	ENST00000255152.2	+	2	977	c.768G>A	c.(766-768)gcG>gcA	p.A256A	ZSWIM3_ENST00000454862.2_Silent_p.A250A	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	256							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TGCTCAAGGCGGAGACAGTCA	0.527																																						ENST00000255152.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35						c.(766-768)gcG>gcA		zinc finger, SWIM-type containing 3							75	71	73					20																	44505965		2203	4300	6503	SO:0001819	synonymous_variant	140831						zinc ion binding	g.chr20:44505965G>A	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"Zinc fingers, SWIM-type"	16157	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 174"		"chromosome 20 open reading frame 164"	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.768G>A	20.37:g.44505965G>A						ZSWIM3_ENST00000454862.2_Silent_p.A250A	p.A256A	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN			2	977	+		Myeloproliferative disorder(115;0.0122)	256					Q9BR13	Silent	SNP	ENST00000255152.2	37	c.768G>A	CCDS13381.1																																																																																				0.527	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		28	24	0	0	0	1	0	28	24					A	44505965	G	A	44505965	2	1	435	1	0	0	0	0	0	0	0	1	18239	1103	39	2		2	ZSWIM3	20	44505965	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	535	44505965	18519555	8671	29596											
PCIF1	63935	broad.mit.edu	37	chr20	44576010	44576010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagcagagccgcttcaaaCgccaccagttgatcctgcct	9	8	10	14	2	1	2	1	1	0	1	2	3	2	3	5	1	4	3	5	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:44576010C>T	ENST00000372409.3	+	16	2180	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	606					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CCGCTTCAAACGCCACCAGTT	0.622																																						ENST00000372409.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						c.(1816-1818)Cgc>Tgc		PDX1 C-terminal inhibiting factor 1							56	50	52					20																	44576010		2203	4300	6503	SO:0001583	missense	63935					nucleus		g.chr20:44576010C>T	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 121"		"chromosome 20 open reading frame 67"	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1816C>T	20.37:g.44576010C>T	ENSP00000361486:p.Arg606Cys					PCIF1_ENST00000479348.1_3'UTR	p.R606C	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN			16	2180	+			606					E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	c.1816C>T	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922864	0.73213	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.03	5.03	0.67393	Phosphorylated CTD interacting factor 1, WW domain (1);	0.059271	0.64402	D	0.000005	D	0.83751	0.5322	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86428	0.1759	9	0.72032	D	0.01	-24.1547	14.1532	0.65401	0.1501:0.8499:0.0:0.0	.	606;606	B7Z5U5;Q9H4Z3	.;PCIF1_HUMAN	C	606	.	ENSP00000361486:R606C	R	+	1	0	PCIF1	44009417	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.493000	0.53266	2.616000	0.88540	0.455000	0.32223	CGC		0.622	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		9	10	0	0	0	1	0	9	10					T	44576010	C	T	44576010	3	4	435	1	0	0	0	0	1	0	0	0	11580	536	19	1	1870	1	PCIF1	20	44576010	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	70045	44576010	18449510	8672	29597											
CDH22	64405	broad.mit.edu	37	chr20	44869715	44869715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgactcgggctccagtaggCggttggtggcgcgatcccga	5	7	16	13	6	0	0	0	0	0	0	3	3	2	0	3	5	0	3	3	5	1	2	rs540366948		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:44869715C>T	ENST00000372262.3	-	2	837	c.437G>A	c.(436-438)cGc>cAc	p.R146H	CDH22_ENST00000537909.1_Missense_Mutation_p.R146H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	146	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CTCCAGTAGGCGGTTGGTGGC	0.627																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(436-438)cGc>cAc		cadherin 22, type 2							82	65	71					20																	44869715		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44869715C>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.437G>A	20.37:g.44869715C>T	ENSP00000361336:p.Arg146His					CDH22_ENST00000537909.1_Missense_Mutation_p.R146H	p.R146H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			2	837	-		Myeloproliferative disorder(115;0.0122)	146			Cadherin 1.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.437G>A	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839037	0.71373	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.52526	0.66;0.66	4.22	3.28	0.37604	Cadherin (4);Cadherin-like (1);	0.231159	0.38217	N	0.001780	T	0.49490	0.1560	M	0.72479	2.2	0.25932	N	0.982982	D	0.60160	0.987	P	0.48368	0.575	T	0.50372	-0.8836	10	0.66056	D	0.02	.	7.8798	0.29616	0.0:0.8351:0.0:0.1649	.	146	Q9UJ99	CAD22_HUMAN	H	146	ENSP00000361336:R146H;ENSP00000437790:R146H	ENSP00000361336:R146H	R	-	2	0	CDH22	44303122	0.984000	0.35163	1.000000	0.80357	0.988000	0.76386	1.338000	0.33873	2.369000	0.80426	0.462000	0.41574	CGC		0.627	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		15	35	0	0	0	1	0	15	35					T	44869715	C	T	44869715	3	4	435	1	0	0	0	0	1	0	0	0	3107	768	27	1	2089	1	CDH22	20	44869715	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	293705	44869715	18155805	8673	29598											
SLC13A3	64849	broad.mit.edu	37	chr20	45188748	45188748	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcccagtccgggaaggtGcccagctggaagatggtctg	8	7	15	11	1	2	1	1	0	1	1	3	3	3	3	3	4	3	1	3	4	2	0	rs574792227		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:45188748G>A	ENST00000279027.4	-	13	1740	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	SLC13A3_ENST00000435032.1_Silent_p.G159G|SLC13A3_ENST00000396360.1_Silent_p.G492G|SLC13A3_ENST00000413164.2_Silent_p.G524G|SLC13A3_ENST00000472148.1_Silent_p.G492G|SLC13A3_ENST00000495082.1_Silent_p.G527G|SLC13A3_ENST00000290317.5_Silent_p.G527G	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	574					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCGGGAAGGTGCCCAGCTGGA	0.562																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1720-1722)ggC>ggT		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						176	148	157					20																	45188748		2203	4300	6503	SO:0001819	synonymous_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45188748G>A	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"Solute carriers"	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1722C>T	20.37:g.45188748G>A						SLC13A3_ENST00000396360.1_Silent_p.G492G|SLC13A3_ENST00000472148.1_Silent_p.G492G|SLC13A3_ENST00000413164.2_Silent_p.G524G|SLC13A3_ENST00000290317.5_Silent_p.G527G|SLC13A3_ENST00000435032.1_Silent_p.G159G|SLC13A3_ENST00000495082.1_Silent_p.G527G	p.G574G	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			13	1740	-		Myeloproliferative disorder(115;0.0122)	574					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Silent	SNP	ENST00000279027.4	37	c.1722C>T	CCDS13400.1																																																																																				0.562	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			27	37	0	0	0	1	0	27	37					A	45188748	G	A	45188748	2	1	435	1	0	0	0	0	0	0	0	1	14393	1306	46	3		3	SLC13A3	20	45188748	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	319033	45188748	17836772	8674	29599											
SLC2A10	81031	broad.mit.edu	37	chr20	45355587	45355587	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caacagcttcaactgggcggCcaacctcttcatcagcctct	9	9	7	16	1	5	0	3	0	2	0	5	0	5	0	3	2	5	1	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:45355587C>A	ENST00000359271.2	+	3	1623	c.1373C>A	c.(1372-1374)gCc>gAc	p.A458D		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	458					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				AACTGGGCGGCCAACCTCTTC	0.542																																						ENST00000359271.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1372-1374)gCc>gAc		solute carrier family 2 (facilitated glucose transporter), member 10							161	148	153					20																	45355587		2203	4300	6503	SO:0001583	missense	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45355587C>A	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"Solute carriers"	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1373C>A	20.37:g.45355587C>A	ENSP00000352216:p.Ala458Asp						p.A458D	NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN			3	1623	+		Myeloproliferative disorder(115;0.0122)	458					A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	c.1373C>A	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573232	0.65765	.	.	ENSG00000197496	ENST00000359271	D	0.82526	-1.62	5.8	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.277093	0.39834	N	0.001247	D	0.92244	0.7540	M	0.93106	3.38	0.43863	D	0.996469	D	0.56968	0.978	D	0.63283	0.913	D	0.92621	0.6108	10	0.34782	T	0.22	-12.7805	16.7486	0.85479	0.0:0.8636:0.1364:0.0	.	458	O95528	GTR10_HUMAN	D	458	ENSP00000352216:A458D	ENSP00000352216:A458D	A	+	2	0	SLC2A10	44788994	0.295000	0.24389	0.885000	0.34714	0.532000	0.34746	1.960000	0.40422	1.436000	0.47453	0.467000	0.42956	GCC		0.542	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			44	53	1	0	2.59497e-14	1	2.8301e-14	44	53					A	45355587	C	A	45355587	3	1	435	1	0	0	0	0	1	0	0	0	14539	739	26	5	1383	5	SLC2A10	20	45355587	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	166839	45355587	17669933	8675	29600											
EYA2	2139	broad.mit.edu	37	chr20	45797813	45797813	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagatccacgttgatgaCgtctcatcagatgacaatgg	12	9	10	10	2	2	5	2	3	1	2	4	6	3	5	2	1	0	1	2	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:45797813C>T	ENST00000327619.5	+	11	1379	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D	EYA2_ENST00000317304.6_Silent_p.D305D|MIR3616_ENST00000584070.1_RNA|EYA2_ENST00000357410.3_Silent_p.D335D	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	335					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ACGTTGATGACGTCTCATCAG	0.418																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1003-1005)gaC>gaT		eyes absent homolog 2 (Drosophila)							155	147	150					20																	45797813		2203	4300	6503	SO:0001819	synonymous_variant	2139				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	g.chr20:45797813C>T		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.1005C>T	20.37:g.45797813C>T						EYA2_ENST00000317304.6_Silent_p.D305D|EYA2_ENST00000357410.3_Silent_p.D335D	p.D335D	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			11	1379	+		Myeloproliferative disorder(115;0.0241)	335					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Silent	SNP	ENST00000327619.5	37	c.1005C>T	CCDS13403.1																																																																																				0.418	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		37	74	0	0	0	1	0	37	74					T	45797813	C	T	45797813	2	4	435	1	0	0	0	0	0	0	0	1	5329	535	19	1		1	EYA2	20	45797813	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	442226	45797813	17227707	8676	29601											
EYA2	2139	broad.mit.edu	37	chr20	45801489	45801489	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggcgggtgaaggagatgtAcaatacctacaagaacaacg	15	5	12	9	3	0	3	0	1	0	2	0	4	0	3	2	3	5	1	2	3	8	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:45801489A>G	ENST00000327619.5	+	12	1546	c.1172A>G	c.(1171-1173)tAc>tGc	p.Y391C	EYA2_ENST00000317304.6_Missense_Mutation_p.Y361C|EYA2_ENST00000357410.3_Missense_Mutation_p.Y391C	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	391					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AAGGAGATGTACAATACCTAC	0.602																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1171-1173)tAc>tGc		eyes absent homolog 2 (Drosophila)							85	68	74					20																	45801489		2203	4300	6503	SO:0001583	missense	2139				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	g.chr20:45801489A>G		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.1172A>G	20.37:g.45801489A>G	ENSP00000333640:p.Tyr391Cys					EYA2_ENST00000317304.6_Missense_Mutation_p.Y361C|EYA2_ENST00000357410.3_Missense_Mutation_p.Y391C	p.Y391C	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			12	1546	+		Myeloproliferative disorder(115;0.0241)	391					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.1172A>G	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.548187	0.86022	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	D;D;D	0.82893	-1.66;-1.66;-1.66	5.59	5.59	0.84812	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.91576	0.7339	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.92806	0.6260	10	0.87932	D	0	-17.1213	15.7516	0.77989	1.0:0.0:0.0:0.0	.	391;361;391;391	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	C	391;391;361;361	ENSP00000333640:Y391C;ENSP00000349986:Y391C;ENSP00000321590:Y361C	ENSP00000321590:Y361C	Y	+	2	0	EYA2	45234896	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.232000	0.95325	2.127000	0.65507	0.533000	0.62120	TAC		0.602	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		14	21	0	0	0	1	0	14	21					G	45801489	A	G	45801489	3	3	435	1	0	0	0	0	1	0	0	0	5329	391	14	4	1214	4	EYA2	20	45801489	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	3676	45801489	17224031	8677	29602											
ZMYND8	23613	broad.mit.edu	37	chr20	45867671	45867671	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacgacccgctgcacggcCggggcagtctccttcggtaa	7	6	12	16	5	1	0	0	0	1	0	3	1	1	0	3	4	1	4	3	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:45867671C>T	ENST00000311275.7	-	15	2689	c.2436G>A	c.(2434-2436)ccG>ccA	p.P812P	ZMYND8_ENST00000536340.1_Silent_p.P839P|ZMYND8_ENST00000355972.4_Silent_p.P812P|ZMYND8_ENST00000471951.2_Silent_p.P832P|ZMYND8_ENST00000352431.2_Silent_p.P832P|ZMYND8_ENST00000540497.1_Silent_p.P760P|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Silent_p.P812P|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000372023.3_Silent_p.P807P|ZMYND8_ENST00000360911.3_Silent_p.P807P|ZMYND8_ENST00000446994.2_Silent_p.P749P|ZMYND8_ENST00000396281.4_Silent_p.P812P|ZMYND8_ENST00000461685.1_Silent_p.P832P	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	812					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCTGCACGGCCGGGGCAGTCT	0.622																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(2434-2436)ccG>ccA		zinc finger, MYND-type containing 8							61	73	69					20																	45867671		2193	4287	6480	SO:0001819	synonymous_variant	23613						protein binding|zinc ion binding	g.chr20:45867671C>T	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2436G>A	20.37:g.45867671C>T						ZMYND8_ENST00000352431.2_Silent_p.P832P|ZMYND8_ENST00000540497.1_Silent_p.P760P|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000396281.4_Silent_p.P812P|ZMYND8_ENST00000262975.4_Silent_p.P812P|ZMYND8_ENST00000536340.1_Silent_p.P839P|ZMYND8_ENST00000471951.2_Silent_p.P832P|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Silent_p.P812P|ZMYND8_ENST00000372023.3_Silent_p.P807P|ZMYND8_ENST00000360911.3_Silent_p.P807P|ZMYND8_ENST00000461685.1_Silent_p.P832P|ZMYND8_ENST00000446994.2_Silent_p.P749P	p.P812P			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		15	2689	-			812					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37	c.2436G>A		.	.	.	.	.	.	.	.	.	.	C	7.138	0.581189	0.13686	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.71	-0.179	0.13299	.	.	.	.	.	T	0.50548	0.1622	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37709	-0.9694	4	.	.	.	-3.2474	5.2	0.15258	0.2081:0.3343:0.0:0.4576	.	.	.	.	S	740	.	.	G	-	1	0	ZMYND8	45301078	0.249000	0.23941	0.998000	0.56505	0.651000	0.38670	-0.473000	0.06615	0.072000	0.16694	0.591000	0.81541	GGC		0.622	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		33	54	0	0	0	1	0	33	54					T	45867671	C	T	45867671	2	4	435	1	0	0	0	0	0	0	0	1	17708	639	23	2		2	ZMYND8	20	45867671	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	66182	45867671	17157849	8678	29603											
ZMYND8	23613	broad.mit.edu	37	chr20	45867699	45867699	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccttcggtaaaagcggcCtctgctttttcactgggctt	5	15	9	12	2	3	0	1	0	2	0	5	0	3	0	2	3	2	3	2	3	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:45867699C>A	ENST00000311275.7	-	15	2661	c.2408G>T	c.(2407-2409)aGg>aTg	p.R803M	ZMYND8_ENST00000536340.1_Missense_Mutation_p.R830M|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R803M|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R823M|ZMYND8_ENST00000352431.2_Missense_Mutation_p.R823M|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R751M|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R803M|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R798M|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R798M|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R740M|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R803M|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R823M	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	803					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TAAAAGCGGCCTCTGCTTTTT	0.632																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(2407-2409)aGg>aTg		zinc finger, MYND-type containing 8							54	67	63					20																	45867699		2199	4297	6496	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45867699C>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2408G>T	20.37:g.45867699C>A	ENSP00000312237:p.Arg803Met					ZMYND8_ENST00000352431.2_Missense_Mutation_p.R823M|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R751M|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R803M|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R803M|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R830M|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R823M|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R803M|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R798M|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R798M|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R823M|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R740M	p.R803M			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		15	2661	-			803					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.2408G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.324986|4.324986	0.81580|0.81580	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|D;D;D;D;D;D;D;D;D;D	.|0.92348	.|-2.0;-2.55;-1.89;-2.69;-2.6;-2.57;-2.89;-1.9;-1.94;-3.02	5.71|5.71	4.77|4.77	0.60923|0.60923	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95560|0.95560	0.8557|0.8557	M|M	0.75264|0.75264	2.295|2.295	0.44048|0.44048	D|D	0.996786|0.996786	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.91635	.|0.999;0.998;0.998;0.998;0.998;0.999;0.999;0.999;0.999;0.999;0.998;0.998;0.998;0.998;0.998;0.998	D|D	0.95805|0.95805	0.8836|0.8836	5|10	.|0.66056	.|D	.|0.02	-8.2087|-8.2087	14.6692|14.6692	0.68932|0.68932	0.0:0.9305:0.0:0.0695|0.0:0.9305:0.0:0.0695	.|.	.|830;798;798;778;797;823;803;798;823;823;803;740;798;751;751;803	.|F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.	D|M	730|798;803;804;824;823;803;830;803;740;823;798;751	.|ENSP00000354166:R798M;ENSP00000312237:R803M;ENSP00000335537:R823M;ENSP00000379577:R803M;ENSP00000439800:R830M;ENSP00000348246:R803M;ENSP00000396725:R740M;ENSP00000418210:R823M;ENSP00000361093:R798M;ENSP00000443086:R751M	.|ENSP00000262975:R804M	E|R	-|-	3|2	2|0	ZMYND8|ZMYND8	45301106|45301106	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.784000|0.784000	0.44337|0.44337	7.670000|7.670000	0.83925|0.83925	1.419000|1.419000	0.47118|0.47118	-0.229000|-0.229000	0.12294|0.12294	GAG|AGG		0.632	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		12	64	1	0	9.31168e-06	1	9.64599e-06	12	64					A	45867699	C	A	45867699	3	1	435	1	0	0	0	0	1	0	0	0	17708	681	24	5	1134	5	ZMYND8	20	45867699	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	28	45867699	17157821	8679	29604											
ZMYND8	23613	broad.mit.edu	37	chr20	45905186	45905186	+	Missense_Mutation	SNP	C	C	T																															agtttgtgctcatgggggagCgcggcatatccgacaaggaa																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:45905186C>T	ENST00000311275.7	-	11	1545	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	ZMYND8_ENST00000536340.1_Missense_Mutation_p.R458H|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R431H|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R451H|ZMYND8_ENST00000352431.2_Missense_Mutation_p.R451H|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R426H|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R431H|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R426H|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R426H|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R426H|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R368H|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R431H|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R451H	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	431					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CATGGGGGAGCGCGGCATATC	0.597																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(1291-1293)cGc>cAc		zinc finger, MYND-type containing 8							71	61	64					20																	45905186		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45905186C>T	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1292G>A	20.37:g.45905186C>T	ENSP00000312237:p.Arg431His					ZMYND8_ENST00000352431.2_Missense_Mutation_p.R451H|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R426H|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R426H|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R431H|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R431H|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R458H|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R451H|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R431H|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R426H|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R426H|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R451H|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R368H	p.R431H			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		11	1545	-			431					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.1292G>A		.	.	.	.	.	.	.	.	.	.	C	23.6	4.436503	0.83885	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	D;D;D;D;D;D;D;D;D;D;D;D;D	0.92495	-2.15;-2.02;-2.11;-2.06;-2.04;-2.04;-2.15;-2.04;-2.03;-3.05;-2.07;-2.16;-1.97	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.95411	0.8510	L	0.59436	1.845	0.53688	D	0.999978	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0;1.0;1.0;1.0;1.0;0.998;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D	0.83275	0.964;0.975;0.996;0.993;0.991;0.988;0.975;0.993;0.939;0.954;0.993;0.996;0.996;0.996;0.996;0.855;0.971;0.99	D	0.95441	0.8525	10	0.66056	D	0.02	-16.9423	19.451	0.94867	0.0:1.0:0.0:0.0	.	426;458;426;426;406;425;451;431;426;451;451;431;368;426;426;451;426;431	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	H	426;431;426;431;451;451;431;458;431;368;451;426;426	ENSP00000354166:R426H;ENSP00000312237:R431H;ENSP00000392964:R426H;ENSP00000262975:R431H;ENSP00000420095:R451H;ENSP00000335537:R451H;ENSP00000379577:R431H;ENSP00000439800:R458H;ENSP00000348246:R431H;ENSP00000396725:R368H;ENSP00000418210:R451H;ENSP00000361093:R426H;ENSP00000443086:R426H	ENSP00000262975:R431H	R	-	2	0	ZMYND8	45338593	1.000000	0.71417	0.719000	0.30619	0.460000	0.32559	7.711000	0.84669	2.593000	0.87608	0.655000	0.94253	CGC		0.597	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		25	20	0	0	0	1	0	25	20					T	45905186	C	T	45905186	3	4	435	1	0	0	0	0	1	0	0	0	17708	768	27	1	2266	1	ZMYND8	20	45905186	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	37487	45905186	17120334	8680	29605	140	2									
ZMYND8	23613	broad.mit.edu	37	chr20	45905189	45905189	+	Missense_Mutation	SNP	G	G	A																															ttgtgctcatgggggagcgcGgcatatccgacaaggaaatc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:45905189G>A	ENST00000311275.7	-	11	1542	c.1289C>T	c.(1288-1290)cCg>cTg	p.P430L	ZMYND8_ENST00000536340.1_Missense_Mutation_p.P457L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P430L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P450L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P450L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P425L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P430L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P425L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P425L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P425L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P367L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P430L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P450L	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	430					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.P450L(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGGGGAGCGCGGCATATCCGA	0.597																																						ENST00000311275.7																			1	Substitution - Missense(1)	p.P450L(1)	kidney(1)	NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(1288-1290)cCg>cTg		zinc finger, MYND-type containing 8							76	65	69					20																	45905189		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45905189G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1289C>T	20.37:g.45905189G>A	ENSP00000312237:p.Pro430Leu					ZMYND8_ENST00000352431.2_Missense_Mutation_p.P450L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P425L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P425L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P430L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P430L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P457L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P450L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P430L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P425L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P425L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P450L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P367L	p.P430L			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		11	1542	-			430					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.1289C>T		.	.	.	.	.	.	.	.	.	.	G	21.1	4.093744	0.76870	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	D;D;D;D;D;D;D;D;D;D;D;D;D	0.96491	-3.05;-2.88;-2.96;-2.99;-2.93;-2.96;-3.02;-2.93;-2.9;-4.03;-3.02;-3.06;-1.77	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.97642	0.9227	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.985;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D	0.97110	0.994;0.992;1.0;1.0;1.0;1.0;0.992;1.0;0.989;0.992;1.0;1.0;1.0;1.0;1.0;0.579;0.994;0.997	D	0.97752	1.0215	10	0.51188	T	0.08	-16.235	19.451	0.94867	0.0:0.0:1.0:0.0	.	425;457;425;425;405;424;450;430;425;450;450;430;367;425;425;450;425;430	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	L	425;430;425;430;450;450;430;457;430;367;450;425;425	ENSP00000354166:P425L;ENSP00000312237:P430L;ENSP00000392964:P425L;ENSP00000262975:P430L;ENSP00000420095:P450L;ENSP00000335537:P450L;ENSP00000379577:P430L;ENSP00000439800:P457L;ENSP00000348246:P430L;ENSP00000396725:P367L;ENSP00000418210:P450L;ENSP00000361093:P425L;ENSP00000443086:P425L	ENSP00000262975:P430L	P	-	2	0	ZMYND8	45338596	1.000000	0.71417	0.945000	0.38365	0.341000	0.28922	9.731000	0.98807	2.593000	0.87608	0.655000	0.94253	CCG		0.597	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		18	31	0	0	0	1	0	18	31					A	45905189	G	A	45905189	3	1	435	1	0	0	0	0	1	0	0	0	17708	1116	39	2	2269	2	ZMYND8	20	45905189	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3	45905189	17120331	8681	29606	140	2									
PREX1	57580	broad.mit.edu	37	chr20	47270020	47270020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcacagagccctgcaGccatggcctcagagcctaag	11	4	11	15	0	1	2	1	0	0	2	1	3	1	2	5	1	5	2	5	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:47270020G>A	ENST00000371941.3	-	20	2247	c.2225C>T	c.(2224-2226)gCt>gTt	p.A742V	PREX1_ENST00000396220.1_Missense_Mutation_p.A742V	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	742					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GAGCCCTGCAGCCATGGCCTC	0.602																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(2224-2226)gCt>gTt		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							117	106	109					20																	47270020		2203	4300	6503	SO:0001583	missense	57580				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	g.chr20:47270020G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2225C>T	20.37:g.47270020G>A	ENSP00000361009:p.Ala742Val					PREX1_ENST00000371941.3_Missense_Mutation_p.A742V	p.A742V			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		20	2247	-			742					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.2225C>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.237265	0.22711	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.17370	2.28;2.28	4.88	4.88	0.63580	PDZ/DHR/GLGF (2);	0.000000	0.53938	U	0.000049	T	0.31670	0.0804	L	0.39397	1.21	0.53688	D	0.999979	B;D	0.65815	0.038;0.995	B;D	0.64687	0.024;0.928	T	0.01834	-1.1264	10	0.48119	T	0.1	.	16.2413	0.82409	0.0:0.0:1.0:0.0	.	742;39	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	V	742	ENSP00000361009:A742V;ENSP00000379522:A742V	ENSP00000361009:A742V	A	-	2	0	PREX1	46703427	0.997000	0.39634	0.782000	0.31804	0.065000	0.16274	3.406000	0.52637	2.269000	0.75478	0.462000	0.41574	GCT		0.602	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		33	51	0	0	0	1	0	33	51					A	47270020	G	A	47270020	3	1	435	1	0	0	0	0	1	0	0	0	12476	971	34	3	2838	3	PREX1	20	47270020	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1364831	47270020	15755500	8682	29607											
ARFGEF2	10564	broad.mit.edu	37	chr20	47649586	47649586	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcacatgcttcaatgtactaCccctacttgtgtgaaattat	11	14	6	10	0	1	1	1	1	0	0	1	1	1	1	2	0	4	3	2	0	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:47649586C>T	ENST00000371917.4	+	39	5208	c.5208C>T	c.(5206-5208)taC>taT	p.Y1736Y		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1736					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			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)			CAATGTACTACCCCTACTTGT	0.398																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				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						c.(5206-5208)taC>taT		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							85	75	78					20																	47649586		2203	4300	6503	SO:0001819	synonymous_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47649586C>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.5208C>T	20.37:g.47649586C>T							p.Y1736Y	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		39	5208	+			1736					Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	c.5208C>T	CCDS13411.1																																																																																				0.398	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		3	42	0	0	0	1	0	3	42					T	47649586	C	T	47649586	2	4	435	1	0	0	0	0	0	0	0	1	853	518	18	3		3	ARFGEF2	20	47649586	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	379566	47649586	15375934	8683	29608											
CSE1L	1434	broad.mit.edu	37	chr20	47706244	47706244	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaagcattcttagaacgCggttcaaacacaatagcaag	15	9	7	10	2	3	1	2	0	1	1	3	1	3	1	0	1	4	3	0	1	7	5	rs369869448		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:47706244C>T	ENST00000262982.2	+	19	2265	c.2142C>T	c.(2140-2142)cgC>cgT	p.R714R	CSE1L_ENST00000542325.1_Silent_p.R497R|CSE1L_ENST00000396192.3_Silent_p.R658R	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	714					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			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)			TCTTAGAACGCGGTTCAAACA	0.423													C|||	1	0.000199681	0	0	5008	,	,		17767	0		0	False		,,,				2504	0.001					ENST00000262982.2																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35						c.(2140-2142)cgC>cgT		CSE1 chromosome segregation 1-like (yeast)							73	74	74					20																	47706244		2203	4300	6503	SO:0001819	synonymous_variant	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47706244C>T	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2142C>T	20.37:g.47706244C>T						CSE1L_ENST00000396192.3_Silent_p.R658R|CSE1L_ENST00000542325.1_Silent_p.R497R	p.R714R	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		19	2265	+			714					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP	ENST00000262982.2	37	c.2142C>T	CCDS13412.1																																																																																				0.423	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		12	48	0	0	0	1	0	12	48					T	47706244	C	T	47706244	2	4	435	1	0	0	0	0	0	0	0	1	3930	755	27	1		1	CSE1L	20	47706244	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	56658	47706244	15319276	8684	29609											
ZNFX1	57169	broad.mit.edu	37	chr20	47864034	47864034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacttgaaccagtgaccacGaggataacctatggcactga	13	7	10	11	1	0	3	0	3	0	0	0	5	0	4	3	2	2	2	3	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:47864034G>A	ENST00000396105.1	-	14	5773	c.5527C>T	c.(5527-5529)Cgt>Tgt	p.R1843C	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1843C|ZNFX1_ENST00000469991.1_5'Flank	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1843							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)			CAGTGACCACGAGGATAACCT	0.542																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(5527-5529)Cgt>Tgt		zinc finger, NFX1-type containing 1							114	96	102					20																	47864034		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47864034G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.5527C>T	20.37:g.47864034G>A	ENSP00000379412:p.Arg1843Cys					ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1843C|ZNFX1_ENST00000371754.4_Intron	p.R1843C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	5773	-			1843					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.5527C>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968393	0.92855	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.87029	-2.2;-2.2	6.04	6.04	0.98038	.	0.134885	0.53938	D	0.000056	D	0.91379	0.7280	L	0.61218	1.895	0.48040	D	0.999579	D	0.89917	1.0	P	0.57152	0.814	D	0.91438	0.5171	10	0.72032	D	0.01	-8.6187	19.1586	0.93522	0.0:0.0:1.0:0.0	.	1843	Q9P2E3	ZNFX1_HUMAN	C	1843	ENSP00000360817:R1843C;ENSP00000379412:R1843C	ENSP00000360817:R1843C	R	-	1	0	ZNFX1	47297441	0.998000	0.40836	0.991000	0.47740	0.981000	0.71138	6.491000	0.73649	2.873000	0.98535	0.563000	0.77884	CGT		0.542	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		22	28	0	0	0	1	0	22	28					A	47864034	G	A	47864034	3	1	435	1	0	0	0	0	1	0	0	0	18202	1058	37	2	233	2	ZNFX1	20	47864034	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	157790	47864034	15161486	8685	29610											
ZNFX1	57169	broad.mit.edu	37	chr20	47864562	47864562	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggctcttcctctccagcaGggccttaagccgttcctggc	5	10	11	15	1	2	0	0	0	2	0	5	1	4	0	5	3	2	3	5	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:47864562G>A	ENST00000396105.1	-	14	5245	c.4999C>T	c.(4999-5001)Ctg>Ttg	p.L1667L	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Silent_p.L1667L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1667							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)			CTCTCCAGCAGGGCCTTAAGC	0.507																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(4999-5001)Ctg>Ttg		zinc finger, NFX1-type containing 1							81	87	85					20																	47864562		2203	4300	6503	SO:0001819	synonymous_variant	57169						metal ion binding	g.chr20:47864562G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4999C>T	20.37:g.47864562G>A						ZNFX1_ENST00000371752.1_Silent_p.L1667L|ZNFX1_ENST00000371754.4_Intron	p.L1667L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	5245	-			1667					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	c.4999C>T	CCDS13417.1																																																																																				0.507	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		42	67	0	0	0	1	0	42	67					A	47864562	G	A	47864562	2	1	435	1	0	0	0	0	0	0	0	1	18202	991	35	3		3	ZNFX1	20	47864562	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	528	47864562	15160958	8686	29611											
ZNFX1	57169	broad.mit.edu	37	chr20	47865182	47865182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttgcagggctgctgacagCgttcatggaaacgcccttcg	7	9	13	12	3	1	1	1	1	0	0	2	2	1	2	1	2	4	5	1	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:47865182C>T	ENST00000396105.1	-	14	4625	c.4379G>A	c.(4378-4380)cGc>cAc	p.R1460H	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1460H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1460							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)			CTGCTGACAGCGTTCATGGAA	0.587																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(4378-4380)cGc>cAc		zinc finger, NFX1-type containing 1							51	49	49					20																	47865182		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47865182C>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4379G>A	20.37:g.47865182C>T	ENSP00000379412:p.Arg1460His					ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1460H|ZNFX1_ENST00000371754.4_Intron	p.R1460H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	4625	-			1460					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.4379G>A	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497680	0.26861	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	T;T	0.56611	0.45;0.45	6.07	5.03	0.67393	.	0.329179	0.31747	N	0.007137	T	0.37732	0.1014	L	0.28115	0.83	0.28339	N	0.92143	B	0.10296	0.003	B	0.04013	0.001	T	0.28618	-1.0038	10	0.45353	T	0.12	-18.7749	8.7804	0.34787	0.0:0.6818:0.2343:0.0839	.	1460	Q9P2E3	ZNFX1_HUMAN	H	1460	ENSP00000360817:R1460H;ENSP00000379412:R1460H	ENSP00000360817:R1460H	R	-	2	0	ZNFX1	47298589	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	0.428000	0.21395	1.415000	0.47037	0.655000	0.94253	CGC		0.587	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		8	11	0	0	0	1	0	8	11					T	47865182	C	T	47865182	3	4	435	1	0	0	0	0	1	0	0	0	18202	768	27	1	1381	1	ZNFX1	20	47865182	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	620	47865182	15160338	8687	29612											
ZNFX1	57169	broad.mit.edu	37	chr20	47872451	47872451	+	Frame_Shift_Del	DEL	T	T	-																															gcgaagctcatccttcactcTttttttcattttctttttct																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:47872451delT	ENST00000396105.1	-	9	2944	c.2698delA	c.(2698-2700)agafs	p.R900fs	ZNFX1_ENST00000371754.4_Frame_Shift_Del_p.R900fs|ZNFX1_ENST00000371752.1_Frame_Shift_Del_p.R900fs	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	900							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)			TCCTTCACTCTTTTTTTCATT	0.517																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(2698-2700)gafs		zinc finger, NFX1-type containing 1							131	100	110					20																	47872451		2203	4300	6503	SO:0001589	frameshift_variant	57169						metal ion binding	g.chr20:47872451delT	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2698delA	20.37:g.47872451delT	ENSP00000379412:p.Arg900fs					ZNFX1_ENST00000371752.1_Frame_Shift_Del_p.R900fs|ZNFX1_ENST00000371754.4_Frame_Shift_Del_p.R900fs	p.R900fs	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		9	2944	-			900					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Frame_Shift_Del	DEL	ENST00000396105.1	37	c.2698delA	CCDS13417.1																																																																																				0.517	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		15	31						15	31	---	---	---	---	-	47872451	T	-	47872451	7	5	435	1	0	1	0	1	0	0	0	0	18202	1617	56	0	3082	0	ZNFX1	20	47872451	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	7269	47872451	15153069	8688	29613											
ZNFX1	57169	broad.mit.edu	37	chr20	47881294	47881294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatggggaggttgcggcGgaattcccgcttgttcctca	5	11	15	10	3	1	0	1	0	0	0	3	2	3	2	2	5	2	4	2	5	1	4	rs201534130		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:47881294G>A	ENST00000396105.1	-	5	2356	c.2110C>T	c.(2110-2112)Cgc>Tgc	p.R704C	ZNFX1_ENST00000371754.4_Missense_Mutation_p.R704C|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R704C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	704							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)			AGGTTGCGGCGGAATTCCCGC	0.527																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(2110-2112)Cgc>Tgc		zinc finger, NFX1-type containing 1							171	149	156					20																	47881294		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47881294G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2110C>T	20.37:g.47881294G>A	ENSP00000379412:p.Arg704Cys					ZNFX1_ENST00000371752.1_Missense_Mutation_p.R704C|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R704C	p.R704C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		5	2356	-			704					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.2110C>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270249	0.80469	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;T	0.86030	-2.06;-1.58;-1.58;1.91;1.91	5.83	5.83	0.93111	.	0.166726	0.52532	D	0.000076	D	0.91606	0.7348	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	D	0.91382	0.5128	10	0.56958	D	0.05	-25.8262	18.6976	0.91607	0.0:0.0:1.0:0.0	.	704	Q9P2E3	ZNFX1_HUMAN	C	704;704;704;704;704;508	ENSP00000360819:R704C;ENSP00000360817:R704C;ENSP00000379412:R704C;ENSP00000360809:R704C;ENSP00000413800:R508C	ENSP00000360809:R704C	R	-	1	0	ZNFX1	47314701	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.176000	0.50863	2.770000	0.95276	0.655000	0.94253	CGC		0.527	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		36	57	0	0	0	1	0	36	57					A	47881294	G	A	47881294	3	1	435	1	0	0	0	0	1	0	0	0	18202	1116	39	2	3686	2	ZNFX1	20	47881294	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8843	47881294	15144226	8689	29614											
KCNB1	3745	broad.mit.edu	37	chr20	47991512	47991512	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaggacgatgaacatgatGgaaattatggcaaggatctg	15	8	14	4	1	1	3	0	2	1	1	1	8	1	6	0	4	1	1	0	4	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:47991512G>T	ENST00000371741.4	-	2	751	c.585C>A	c.(583-585)tcC>tcA	p.S195S		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	195					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TGAACATGATGGAAATTATGG	0.517																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(583-585)tcC>tcA		potassium voltage-gated channel, Shab-related subfamily, member 1							101	85	91					20																	47991512		2203	4300	6503	SO:0001819	synonymous_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47991512G>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.585C>A	20.37:g.47991512G>T							p.S195S	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	751	-			195					Q14193	Silent	SNP	ENST00000371741.4	37	c.585C>A	CCDS13418.1																																																																																				0.517	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		10	12	1	0	1.08611e-07	1	1.14056e-07	10	12					T	47991512	G	T	47991512	2	4	435	1	0	0	0	0	0	0	0	1	8012	1335	47	5		5	KCNB1	20	47991512	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	110218	47991512	15034008	8690	29615											
PTGIS	5740	broad.mit.edu	37	chr20	48129687	48129687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaggaggcggtcaccaCgtcgcaggttgaattctcgc	9	7	15	10	4	2	2	1	1	1	1	4	4	2	4	1	5	0	2	1	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:48129687C>T	ENST00000244043.4	-	8	1165	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	379			R -> S (in allele CYP8A1*4; dbSNP:rs56195291). {ECO:0000269|PubMed:11281454}.		apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	GCGGTCACCACGTCGCAGGTT	0.612																																						ENST00000244043.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(1135-1137)cGt>cAt		prostaglandin I2 (prostacyclin) synthase	Phenylbutazone(DB00812)						106	100	102					20																	48129687		2203	4300	6503	SO:0001583	missense	5740				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	g.chr20:48129687C>T		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"Cytochrome P450s"	9603	protein-coding gene	gene with protein product	"cytochrome P450, family 8, subfamily A, polypeptide 1"	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.1136G>A	20.37:g.48129687C>T	ENSP00000244043:p.Arg379His					PTGIS_ENST00000478971.1_5'UTR	p.R379H	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		8	1165	-			379		R -> S (in allele CYP8A1*4; dbSNP:rs56195291).			Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	37	c.1136G>A	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428888	0.43122	.	.	ENSG00000124212	ENST00000244043	T	0.01313	5.02	4.75	2.53	0.30540	.	0.266512	0.30051	N	0.010529	T	0.02418	0.0074	L	0.43152	1.355	0.22787	N	0.99873	D	0.67145	0.996	P	0.52066	0.689	T	0.45731	-0.9241	10	0.51188	T	0.08	-19.1176	6.2668	0.20932	0.0:0.6531:0.0:0.3469	.	379	Q16647	PTGIS_HUMAN	H	379	ENSP00000244043:R379H	ENSP00000244043:R379H	R	-	2	0	PTGIS	47563094	0.982000	0.34865	0.986000	0.45419	0.993000	0.82548	2.097000	0.41748	1.005000	0.39183	0.561000	0.74099	CGT		0.612	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			19	36	0	0	0	1	0	19	36					T	48129687	C	T	48129687	3	4	435	1	0	0	0	0	1	0	0	0	12752	536	19	1	378	1	PTGIS	20	48129687	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	138175	48129687	14895833	8691	29616											
SLC9A8	23315	broad.mit.edu	37	chr20	48472001	48472001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttggctccctaatatctgCtgtcgatccagtggccacta	7	13	9	12	1	1	0	0	0	1	0	4	1	3	0	3	2	1	3	3	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:48472001C>T	ENST00000361573.2	+	8	638	c.596C>T	c.(595-597)gCt>gTt	p.A199V	SLC9A8_ENST00000539601.1_5'UTR|SLC9A8_ENST00000417961.1_Missense_Mutation_p.A215V|SLC9A8_ENST00000541138.1_5'UTR			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	199					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CTAATATCTGCTGTCGATCCA	0.448																																						ENST00000417961.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(643-645)gCt>gTt		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8							209	190	196					20																	48472001		2203	4300	6503	SO:0001583	missense	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48472001C>T	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"Solute carriers"	20728	protein-coding gene	gene with protein product		612730	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 8", "solute carrier family 9 (sodium/hydrogen exchanger), member 8"			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.596C>T	20.37:g.48472001C>T	ENSP00000354966:p.Ala199Val					SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000361573.2_Missense_Mutation_p.A199V|SLC9A8_ENST00000539601.1_5'UTR	p.A215V	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		8	854	+			199					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	c.644C>T	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404842	0.83230	.	.	ENSG00000197818	ENST00000417961;ENST00000361573	T;T	0.18338	2.22;2.22	5.24	5.24	0.73138	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77539	-0.2550	10	0.87932	D	0	.	19.2019	0.93714	0.0:1.0:0.0:0.0	.	199	Q9Y2E8	SL9A8_HUMAN	V	215;199	ENSP00000416418:A215V;ENSP00000354966:A199V	ENSP00000354966:A199V	A	+	2	0	SLC9A8	47905408	1.000000	0.71417	0.966000	0.40874	0.196000	0.23810	7.652000	0.83633	2.598000	0.87819	0.650000	0.86243	GCT		0.448	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		36	60	0	0	0	1	0	36	60					T	48472001	C	T	48472001	3	4	435	1	0	0	0	0	1	0	0	0	14720	797	28	3	626	3	SLC9A8	20	48472001	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	342314	48472001	14553519	8692	29617											
PTPN1	5770	broad.mit.edu	37	chr20	49191125	49191125	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagacacaaatttgaaattAacattgatctctgaagatat	18	12	6	5	0	1	5	0	3	1	2	2	6	1	5	0	0	1	0	0	0	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:49191125A>G	ENST00000371621.3	+	5	600	c.426A>G	c.(424-426)ttA>ttG	p.L142L	RP4-530I15.9_ENST00000431019.1_RNA|PTPN1_ENST00000541713.1_Silent_p.L69L	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	142	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	atttgaaattaacattgatct	0.358																																						ENST00000371621.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16						c.(424-426)ttA>ttG		protein tyrosine phosphatase, non-receptor type 1	Clodronate(DB00720)|Tiludronate(DB01133)						98	96	97					20																	49191125		2203	4300	6503	SO:0001819	synonymous_variant	5770				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	g.chr20:49191125A>G		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.426A>G	20.37:g.49191125A>G						PTPN1_ENST00000541713.1_Silent_p.L69L|RP4-530I15.9_ENST00000431019.1_RNA	p.L142L	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN			5	600	+		Lung NSC(126;0.163)	142			Tyrosine-protein phosphatase.		Q5TGD8|Q9BQV9|Q9NQQ4	Silent	SNP	ENST00000371621.3	37	c.426A>G	CCDS13430.1																																																																																				0.358	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2			18	36	0	0	0	1	0	18	36					G	49191125	A	G	49191125	2	3	435	1	0	0	0	0	0	0	0	1	12779	359	13	4		4	PTPN1	20	49191125	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	719124	49191125	13834395	8693	29618											
FAM65C	140876	broad.mit.edu	37	chr20	49225025	49225025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtcggcgatgtcacacGtcactgcacccacagccagc	11	5	10	15	3	2	1	2	0	0	1	3	2	2	1	2	1	3	1	2	1	1	0	rs200061776		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:49225025G>A	ENST00000327979.2	-	11	1256	c.845C>T	c.(844-846)aCg>aTg	p.T282M	FAM65C_ENST00000535356.1_Missense_Mutation_p.T286M|FAM65C_ENST00000045083.2_Missense_Mutation_p.T282M			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	282										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GATGTCACACGTCACTGCACC	0.657																																						ENST00000327979.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(844-846)aCg>aTg		family with sequence similarity 65, member C		G	MET/THR	0,4406		0,0,2203	99	90	93		845	2.9	0	20		93	2,8598	2.2+/-6.3	0,2,4298	no	missense	FAM65C	NM_080829.2	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	282/947	49225025	2,13004	2203	4300	6503	SO:0001583	missense	140876							g.chr20:49225025G>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.845C>T	20.37:g.49225025G>A	ENSP00000332663:p.Thr282Met					FAM65C_ENST00000535356.1_Missense_Mutation_p.T286M|FAM65C_ENST00000045083.2_Missense_Mutation_p.T282M	p.T282M			Q96MK2	FA65C_HUMAN			11	1256	-			282					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.845C>T	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514465	0.44763	0.0	2.33E-4	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.02525	4.26;4.26;4.26	4.84	2.86	0.33363	.	0.050019	0.85682	D	0.000000	T	0.06917	0.0176	L	0.43152	1.355	0.27652	N	0.947351	D;D	0.76494	0.989;0.999	P;P	0.58520	0.512;0.84	T	0.03166	-1.1065	10	0.87932	D	0	-19.0199	10.6803	0.45811	0.146:0.0:0.854:0.0	.	286;282	F5H0X2;Q96MK2	.;FA65C_HUMAN	M	282;282;286	ENSP00000332663:T282M;ENSP00000045083:T282M;ENSP00000439802:T286M	ENSP00000045083:T282M	T	-	2	0	FAM65C	48658432	0.078000	0.21339	0.034000	0.17996	0.461000	0.32589	1.572000	0.36461	2.255000	0.74692	0.561000	0.74099	ACG		0.657	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			32	38	0	0	0	1	0	32	38					A	49225025	G	A	49225025	3	1	435	1	0	0	0	0	1	0	0	0	5601	1145	40	1	2043	1	FAM65C	20	49225025	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33900	49225025	13800495	8694	29619											
PARD6B	84612	broad.mit.edu	37	chr20	49354420	49354420	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgaatttcgtcggttttcGctggaaagatcaaaacctgg	10	12	11	8	3	1	2	1	1	0	1	4	3	1	3	1	3	1	3	1	3	4	3	rs75953522	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:49354420G>A	ENST00000371610.2	+	2	336	c.93G>A	c.(91-93)tcG>tcA	p.S31S	PARD6B_ENST00000396039.1_Silent_p.S31S	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	31	OPR.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						GTCGGTTTTCGCTGGAAAGAT	0.338													G|||	5	0.000998403	0.003	0	5008	,	,		15453	0		0.001	False		,,,				2504	0					ENST00000371610.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						c.(91-93)tcG>tcA		par-6 family cell polarity regulator beta		G		23,4383	29.0+/-57.7	0,23,2180	66	66	66		93	-11.7	0.8	20	dbSNP_133	66	0,8600		0,0,4300	no	coding-synonymous	PARD6B	NM_032521.2		0,23,6480	AA,AG,GG		0.0,0.522,0.1768		31/373	49354420	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	84612				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	g.chr20:49354420G>A	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.93G>A	20.37:g.49354420G>A						PARD6B_ENST00000396039.1_Silent_p.S31S	p.S31S	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN			2	336	+			31			OPR.		A2A2A7|Q9Y510	Silent	SNP	ENST00000371610.2	37	c.93G>A	CCDS33485.1																																																																																				0.338	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		17	27	0	0	0	1	0	17	27					A	49354420	G	A	49354420	2	1	435	1	0	0	0	0	0	0	0	1	11446	1074	38	1		1	PARD6B	20	49354420	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	129395	49354420	13671100	8695	29620											
DPM1	8813	broad.mit.edu	37	chr20	49552742	49552742	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcatctccatctggaagacGtagcctttagaaacacattt	13	12	6	10	1	3	2	1	0	2	2	4	3	3	3	2	1	2	1	2	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:49552742G>A	ENST00000371588.5	-	8	647	c.621C>T	c.(619-621)taC>taT	p.Y207Y	RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371582.4_Silent_p.Y234Y|DPM1_ENST00000371583.5_Silent_p.Y202Y|AL034553.1_ENST00000584882.1_RNA|DPM1_ENST00000466152.1_5'UTR	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	207					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						TCTGGAAGACGTAGCCTTTAG	0.333																																						ENST00000371582.4																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						c.(700-702)taC>taT		dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit							106	98	100					20																	49552742		2203	4300	6503	SO:0001819	synonymous_variant	8813				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	g.chr20:49552742G>A	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.621C>T	20.37:g.49552742G>A						DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371588.5_Silent_p.Y207Y|RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371583.5_Silent_p.Y202Y	p.Y234Y			O60762	DPM1_HUMAN			9	733	-			207					O15157|Q6IB78|Q96HK0	Silent	SNP	ENST00000371588.5	37	c.702C>T	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	G	9.027	0.986282	0.18889	.	.	ENSG00000000419	ENST00000371584	.	.	.	5.64	-7.54	0.01332	.	.	.	.	.	T	0.61899	0.2384	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67015	-0.5777	4	.	.	.	-2.0574	15.2809	0.73784	0.6285:0.0:0.3715:0.0	.	.	.	.	C	242	.	.	R	-	1	0	DPM1	48986149	0.017000	0.18338	0.940000	0.37924	0.996000	0.88848	-0.803000	0.04540	-1.264000	0.02452	-0.137000	0.14449	CGT		0.333	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		21	42	0	0	0	1	0	21	42					A	49552742	G	A	49552742	2	1	435	1	0	0	0	0	0	0	0	1	4724	1140	40	1		1	DPM1	20	49552742	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	198322	49552742	13472778	8696	29621											
ATP9A	10079	broad.mit.edu	37	chr20	50226672	50226672	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatccttgatagagagggacGgaggcaaagtaaaacacgga	17	5	13	6	2	0	2	0	1	0	1	1	6	1	5	1	4	1	2	1	4	5	3	rs148713102		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:50226672G>A	ENST00000338821.5	-	24	2868	c.2604C>T	c.(2602-2604)tcC>tcT	p.S868S	ATP9A_ENST00000402822.1_Silent_p.S747S|ATP9A_ENST00000311637.5_Silent_p.S732S	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	868					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGAGAGGGACGGAGGCAAAGT	0.413																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2602-2604)tcC>tcT		ATPase, class II, type 9A		G		1,4405	2.1+/-5.4	0,1,2202	133	117	122		2604	-0.8	1	20	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous	ATP9A	NM_006045.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		868/1048	50226672	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10079				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	g.chr20:50226672G>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2604C>T	20.37:g.50226672G>A						ATP9A_ENST00000402822.1_Silent_p.S747S|ATP9A_ENST00000311637.5_Silent_p.S732S	p.S868S	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			24	2868	-			868					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	c.2604C>T	CCDS33489.1																																																																																				0.413	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		11	14	0	0	0	1	0	11	14					A	50226672	G	A	50226672	2	1	435	1	0	0	0	0	0	0	0	1	1198	1103	39	2		2	ATP9A	20	50226672	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	673930	50226672	12798848	8697	29622											
ATP9A	10079	broad.mit.edu	37	chr20	50230313	50230313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgcaccataagcaaccggCcaagatgcttaaattgagtg	14	8	9	10	1	0	2	0	1	0	1	0	2	0	2	3	1	4	3	3	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:50230313C>T	ENST00000338821.5	-	23	2738	c.2474G>A	c.(2473-2475)gGc>gAc	p.G825D	ATP9A_ENST00000402822.1_Missense_Mutation_p.G704D|ATP9A_ENST00000311637.5_Missense_Mutation_p.G689D	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	825					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AAGCAACCGGCCAAGATGCTT	0.507																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2473-2475)gGc>gAc		ATPase, class II, type 9A							160	158	158					20																	50230313		2203	4300	6503	SO:0001583	missense	10079				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	g.chr20:50230313C>T	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2474G>A	20.37:g.50230313C>T	ENSP00000342481:p.Gly825Asp					ATP9A_ENST00000402822.1_Missense_Mutation_p.G704D|ATP9A_ENST00000311637.5_Missense_Mutation_p.G689D	p.G825D	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			23	2738	-			825					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.2474G>A	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347663	0.82022	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.67523	-0.27;-0.27;-0.27	4.92	4.92	0.64577	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.76579	0.4007	L	0.41824	1.3	0.80722	D	1	D;D	0.89917	1.0;0.968	D;P	0.83275	0.996;0.536	T	0.78932	-0.2009	10	0.62326	D	0.03	-31.8097	18.1056	0.89519	0.0:1.0:0.0:0.0	.	704;825	O75110-2;O75110	.;ATP9A_HUMAN	D	689;825;704	ENSP00000309086:G689D;ENSP00000342481:G825D;ENSP00000385875:G704D	ENSP00000309086:G689D	G	-	2	0	ATP9A	49663720	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	7.380000	0.79704	2.265000	0.75225	0.561000	0.74099	GGC		0.507	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		49	79	0	0	0	1	0	49	79					T	50230313	C	T	50230313	3	4	435	1	0	0	0	0	1	0	0	0	1198	739	26	3	693	3	ATP9A	20	50230313	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3641	50230313	12795207	8698	29623											
ATP9A	10079	broad.mit.edu	37	chr20	50241791	50241791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctgcctgcagctggtcCtccacgcccgtcaggcacag	7	7	10	17	2	2	0	1	0	1	0	4	0	4	0	4	2	3	3	4	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:50241791C>A	ENST00000338821.5	-	18	2220	c.1956G>T	c.(1954-1956)gaG>gaT	p.E652D	ATP9A_ENST00000402822.1_Missense_Mutation_p.E531D|ATP9A_ENST00000311637.5_Missense_Mutation_p.E516D	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	652					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCAGCTGGTCCTCCACGCCCG	0.647																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1954-1956)gaG>gaT		ATPase, class II, type 9A							102	84	90					20																	50241791		2203	4300	6503	SO:0001583	missense	10079				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	g.chr20:50241791C>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1956G>T	20.37:g.50241791C>A	ENSP00000342481:p.Glu652Asp					ATP9A_ENST00000402822.1_Missense_Mutation_p.E531D|ATP9A_ENST00000311637.5_Missense_Mutation_p.E516D	p.E652D	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			18	2220	-			652					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.1956G>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972738	0.74246	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.96011	-3.88;-3.88;-3.88	4.94	1.53	0.23141	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.98099	0.9373	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	0.974;1.0	D;D	0.97110	0.953;1.0	D	0.96689	0.9509	10	0.87932	D	0	-37.7891	7.5522	0.27804	0.0:0.5301:0.0:0.4699	.	531;652	O75110-2;O75110	.;ATP9A_HUMAN	D	516;652;531	ENSP00000309086:E516D;ENSP00000342481:E652D;ENSP00000385875:E531D	ENSP00000309086:E516D	E	-	3	2	ATP9A	49675198	0.999000	0.42202	1.000000	0.80357	0.948000	0.59901	0.610000	0.24253	0.500000	0.27991	0.555000	0.69702	GAG		0.647	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		11	10	1	0	4.3838e-07	1	4.58243e-07	11	10					A	50241791	C	A	50241791	3	1	435	1	0	0	0	0	1	0	0	0	1198	680	24	5	1231	5	ATP9A	20	50241791	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11478	50241791	12783729	8699	29624											
SALL4	57167	broad.mit.edu	37	chr20	50401076	50401076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccacacaacagggtccaCattcactgaaggggccagga	12	6	11	12	0	1	1	1	1	0	0	3	2	3	2	3	4	1	1	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:50401076C>T	ENST00000217086.4	-	4	3001	c.2890G>A	c.(2890-2892)Gtg>Atg	p.V964M	SALL4_ENST00000371539.3_Missense_Mutation_p.V187M|SALL4_ENST00000395997.3_Missense_Mutation_p.V527M	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	964					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						ACAGGGTCCACATTCACTGAA	0.522																																						ENST00000217086.4																			0				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						c.(2890-2892)Gtg>Atg		spalt-like transcription factor 4							123	106	112					20																	50401076		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50401076C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2890G>A	20.37:g.50401076C>T	ENSP00000217086:p.Val964Met					SALL4_ENST00000395997.3_Missense_Mutation_p.V527M|SALL4_ENST00000371539.3_Missense_Mutation_p.V187M	p.V964M	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			4	3001	-			964					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2890G>A	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	5.883	0.347019	0.11126	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.45276	0.9;0.9;0.9	4.8	-3.95	0.04118	.	0.792782	0.10703	N	0.643780	T	0.27629	0.0679	L	0.33339	1.005	0.18873	N	0.999989	B;B;B	0.21905	0.007;0.016;0.062	B;B;B	0.21360	0.004;0.015;0.034	T	0.29518	-1.0009	10	0.48119	T	0.1	-12.0575	8.8008	0.34907	0.0:0.1857:0.1801:0.6342	.	527;187;964	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	M	964;527;187	ENSP00000217086:V964M;ENSP00000379319:V527M;ENSP00000360594:V187M	ENSP00000217086:V964M	V	-	1	0	SALL4	49834483	0.884000	0.30299	0.027000	0.17364	0.100000	0.18952	0.085000	0.14912	-0.349000	0.08274	-0.367000	0.07326	GTG		0.522	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			40	52	0	0	0	1	0	40	52					T	50401076	C	T	50401076	3	4	435	1	0	0	0	0	1	0	0	0	13813	478	17	3	275	3	SALL4	20	50401076	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	159285	50401076	12624444	8700	29625											
SALL4	57167	broad.mit.edu	37	chr20	50407775	50407775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttggtggtgaagcgatgaCcacagacagagcacacgaag	13	5	13	10	2	0	4	0	2	0	2	0	6	0	4	2	2	2	1	2	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:50407775C>T	ENST00000217086.4	-	2	1358	c.1247G>A	c.(1246-1248)gGt>gAt	p.G416D	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	416					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						GAAGCGATGACCACAGACAGA	0.542																																						ENST00000217086.4																			0				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						c.(1246-1248)gGt>gAt		spalt-like transcription factor 4							60	53	55					20																	50407775		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407775C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1247G>A	20.37:g.50407775C>T	ENSP00000217086:p.Gly416Asp					SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	p.G416D	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	1358	-			416					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.1247G>A	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091989	0.76756	.	.	ENSG00000101115	ENST00000217086	T	0.07444	3.19	5.29	5.29	0.74685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000275	T	0.17619	0.0423	N	0.25031	0.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01899	-1.1251	10	0.72032	D	0.01	-17.5081	15.3359	0.74255	0.14:0.86:0.0:0.0	.	416	Q9UJQ4	SALL4_HUMAN	D	416	ENSP00000217086:G416D	ENSP00000217086:G416D	G	-	2	0	SALL4	49841182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.771000	0.85420	2.466000	0.83321	0.655000	0.94253	GGT		0.542	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			25	34	0	0	0	1	0	25	34					T	50407775	C	T	50407775	3	4	435	1	0	0	0	0	1	0	0	0	13813	507	18	3	1926	3	SALL4	20	50407775	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6699	50407775	12617745	8701	29626											
TSHZ2	128553	broad.mit.edu	37	chr20	51870105	51870105	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggacagCggttcagtagctcaactgca	12	5	17	7	1	2	0	2	0	0	0	2	6	2	5	0	6	4	4	0	6	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:51870105C>T	ENST00000371497.5	+	2	995	c.108C>T	c.(106-108)agC>agT	p.S36S	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.S33S|TSHZ2_ENST00000603338.2_Silent_p.S33S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	36					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S36S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			aggaggaCAGCGGTTCAGTAG	0.527																																						ENST00000371497.5																			1	Substitution - coding silent(1)	p.S36S(1)	large_intestine(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(106-108)agC>agT		teashirt zinc finger homeobox 2							64	61	62					20																	51870105		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870105C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.108C>T	20.37:g.51870105C>T						TSHZ2_ENST00000329613.6_Silent_p.S33S|TSHZ2_ENST00000603338.2_Silent_p.S33S	p.S36S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	995	+			36					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.108C>T	CCDS33490.1																																																																																				0.527	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		8	10	0	0	0	1	0	8	10					T	51870105	C	T	51870105	2	4	435	1	0	0	0	0	0	0	0	1	16621	767	27	1		1	TSHZ2	20	51870105	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1462330	51870105	11155415	8702	29627											
TSHZ2	128553	broad.mit.edu	37	chr20	51872367	51872367	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtccccacctcagaagcaCgctctgtctgacatcgccga	9	8	8	16	3	3	2	1	1	2	1	5	3	4	2	4	0	1	2	4	0	1	0	rs138612067		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:51872367C>T	ENST00000371497.5	+	2	3257	c.2370C>T	c.(2368-2370)caC>caT	p.H790H	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.H787H|TSHZ2_ENST00000603338.2_Silent_p.H787H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	790					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H790H(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTCAGAAGCACGCTCTGTCTG	0.557																																						ENST00000371497.5																			1	Substitution - coding silent(1)	p.H790H(1)	endometrium(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(2368-2370)caC>caT		teashirt zinc finger homeobox 2		C	,	1,4405	2.1+/-5.4	0,1,2202	111	103	106		2361,2370	-3.5	1	20	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TSHZ2	NM_001193421.1,NM_173485.5	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	787/1032,790/1035	51872367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872367C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2370C>T	20.37:g.51872367C>T						TSHZ2_ENST00000329613.6_Silent_p.H787H|TSHZ2_ENST00000603338.2_Silent_p.H787H	p.H790H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3257	+			790					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.2370C>T	CCDS33490.1																																																																																				0.557	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		22	32	0	0	0	1	0	22	32					T	51872367	C	T	51872367	2	4	435	1	0	0	0	0	0	0	0	1	16621	535	19	1		1	TSHZ2	20	51872367	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2262	51872367	11153153	8703	29628											
TSHZ2	128553	broad.mit.edu	37	chr20	51872787	51872787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcttttattgcagtgaCtgtgcctcccagttcagaac	8	13	7	13	0	2	2	1	1	1	1	3	2	3	2	3	0	3	2	3	0	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:51872787C>A	ENST00000371497.5	+	2	3677	c.2790C>A	c.(2788-2790)gaC>gaA	p.D930E	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.D927E|TSHZ2_ENST00000603338.2_Missense_Mutation_p.D927E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	930					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			ATTGCAGTGACTGTGCCTCCC	0.498																																						ENST00000371497.5																			0				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						c.(2788-2790)gaC>gaA		teashirt zinc finger homeobox 2							70	71	71					20																	51872787		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872787C>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2790C>A	20.37:g.51872787C>A	ENSP00000360552:p.Asp930Glu					TSHZ2_ENST00000329613.6_Missense_Mutation_p.D927E|TSHZ2_ENST00000603338.2_Missense_Mutation_p.D927E|RP4-678D15.1_ENST00000606932.1_RNA	p.D930E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3677	+			930					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.2790C>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308095	0.81247	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.26223	1.75;1.75	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	L	0.28649	0.875	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.22871	-1.0204	10	0.54805	T	0.06	-16.8666	19.8272	0.96622	0.0:1.0:0.0:0.0	.	930	Q9NRE2	TSH2_HUMAN	E	930;927;456	ENSP00000360552:D930E;ENSP00000333114:D927E	ENSP00000333114:D927E	D	+	3	2	TSHZ2	51306194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.482000	0.81143	2.685000	0.91497	0.643000	0.83706	GAC		0.498	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		15	22	1	0	6.31663e-08	1	6.64488e-08	15	22					A	51872787	C	A	51872787	3	1	435	1	0	0	0	0	1	0	0	0	16621	564	20	5	2796	5	TSHZ2	20	51872787	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	420	51872787	11152733	8704	29629											
TFAP2C	7022	broad.mit.edu	37	chr20	55211734	55211734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatttcctagtaaaccagtgGcagaatatttaaccagacct	15	11	6	9	0	0	2	0	0	0	2	1	2	1	2	4	1	2	2	4	1	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:55211734G>A	ENST00000201031.2	+	6	1234	c.991G>A	c.(991-993)Gca>Aca	p.A331T	TFAP2C_ENST00000544508.1_Missense_Mutation_p.A162T	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	331	H-S-H (helix-span-helix), dimerization.				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TAAACCAGTGGCAGAATATTT	0.438																																						ENST00000201031.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(991-993)Gca>Aca		transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)							144	124	131					20																	55211734		2203	4300	6503	SO:0001583	missense	7022				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	g.chr20:55211734G>A		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"estrogen receptor factor 1"	601602	"transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.991G>A	20.37:g.55211734G>A	ENSP00000201031:p.Ala331Thr					TFAP2C_ENST00000544508.1_Missense_Mutation_p.A162T	p.A331T	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		6	1234	+			331			H-S-H (helix-span-helix), dimerization.		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	ENST00000201031.2	37	c.991G>A	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	G	36	5.652917	0.96724	.	.	ENSG00000087510	ENST00000201031;ENST00000544508	D;D	0.97505	-4.41;-4.41	5.56	5.56	0.83823	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98823	0.9603	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.99560	1.0968	10	0.87932	D	0	-22.9166	19.6143	0.95626	0.0:0.0:1.0:0.0	.	331	Q92754	AP2C_HUMAN	T	331;162	ENSP00000201031:A331T;ENSP00000442274:A162T	ENSP00000201031:A331T	A	+	1	0	TFAP2C	54645141	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	7.493000	0.81493	2.632000	0.89209	0.586000	0.80456	GCA		0.438	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		21	38	0	0	0	1	0	21	38					A	55211734	G	A	55211734	3	1	435	1	0	0	0	0	1	0	0	0	15786	1203	42	3	1013	3	TFAP2C	20	55211734	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3338947	55211734	7813786	8705	29630											
BMP7	655	broad.mit.edu	37	chr20	55746114	55746114	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggagatggcattgagctgCgtgggcgcacagcagggctt	8	7	17	9	3	0	2	0	1	0	1	0	3	0	2	0	4	3	5	0	4	0	2	rs376461446		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:55746114C>T	ENST00000395863.3	-	7	1702	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Silent_p.T333T	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	399					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	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)			CATTGAGCTGCGTGGGCGCAC	0.562													c|||	1	0.000199681	8e-04	0	5008	,	,		19695	0		0	False		,,,				2504	0					ENST00000395863.3																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(1195-1197)acG>acA		bone morphogenetic protein 7		C		2,4404	4.2+/-10.8	0,2,2201	110	90	97		1197	-10.9	0.2	20		97	0,8600		0,0,4300	no	coding-synonymous	BMP7	NM_001719.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		399/432	55746114	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	655				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	g.chr20:55746114C>T		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"Bone morphogenetic proteins", "Endogenous ligands"	1074	protein-coding gene	gene with protein product	"osteogenic protein 1"	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.1197G>A	20.37:g.55746114C>T						BMP7_ENST00000395864.3_Silent_p.T333T|BMP7_ENST00000460817.1_5'UTR	p.T399T	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		7	1702	-	all_lung(29;0.0133)|Melanoma(10;0.242)		399					Q9H512|Q9NTQ7	Silent	SNP	ENST00000395863.3	37	c.1197G>A	CCDS13455.1																																																																																				0.562	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			5	13	0	0	0	1	0	5	13					T	55746114	C	T	55746114	2	4	435	1	0	0	0	0	0	0	0	1	1465	755	27	1		1	BMP7	20	55746114	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	534380	55746114	7279406	8706	29631											
RAE1	8480	broad.mit.edu	37	chr20	55948750	55948750	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttcacctttaaatgtcatCgatctaatggaaccaacact	14	12	4	11	1	3	0	2	0	1	0	4	2	3	1	2	1	2	0	2	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:55948750C>T	ENST00000395841.2	+	10	1201	c.781C>T	c.(781-783)Cga>Tga	p.R261*	RAE1_ENST00000395840.2_Nonsense_Mutation_p.R261*|RAE1_ENST00000371242.2_Nonsense_Mutation_p.R261*|RAE1_ENST00000527947.1_Nonsense_Mutation_p.R261*	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	261					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)	p.R261*(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	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)			TAAATGTCATCGATCTAATGG	0.403																																						ENST00000395841.2																			1	Substitution - Nonsense(1)	p.R261*(1)	large_intestine(1)	breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21						c.(781-783)Cga>Tga		ribonucleic acid export 1							224	215	218					20																	55948750		2203	4300	6503	SO:0001587	stop_gained	8480				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	g.chr20:55948750C>T	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"WD repeat domain containing"	9828	protein-coding gene	gene with protein product		603343	"RAE1 (RNA export 1, S.pombe) homolog", "RAE1 RNA export 1 homolog (S. pombe)"			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.781C>T	20.37:g.55948750C>T	ENSP00000379182:p.Arg261*					RAE1_ENST00000371242.2_Nonsense_Mutation_p.R261*|RAE1_ENST00000395840.2_Nonsense_Mutation_p.R261*|RAE1_ENST00000527947.1_Nonsense_Mutation_p.R261*	p.R261*	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		10	1201	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		261					A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Nonsense_Mutation	SNP	ENST00000395841.2	37	c.781C>T	CCDS13458.1	.	.	.	.	.	.	.	.	.	.	C	38	7.231739	0.98150	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000395840	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.6719	19.9598	0.97242	0.0:1.0:0.0:0.0	.	.	.	.	X	261	.	ENSP00000360286:R261X	R	+	1	2	RAE1	55382157	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.794000	0.62482	2.716000	0.92895	0.655000	0.94253	CGA		0.403	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2			5	209	0	0	0	1	0	5	209					T	55948750	C	T	55948750	4	4	435	1	0	0	0	0	0	1	0	0	12998	876	31	2	815	2	RAE1	20	55948750	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	202636	55948750	7076770	8707	29632											
ZBP1	81030	broad.mit.edu	37	chr20	56185392	56185392	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaattcttgcttcaaaCgaagcttctgggccggcagc	8	10	12	11	2	3	0	1	0	2	0	3	2	3	1	1	3	4	3	1	3	3	4	rs374383138		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:56185392C>T	ENST00000371173.3	-	7	1083	c.906G>A	c.(904-906)tcG>tcA	p.S302S	ZBP1_ENST00000340462.4_Silent_p.S279S|ZBP1_ENST00000395822.3_Silent_p.S227S|ZBP1_ENST00000343535.4_Silent_p.S302S	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	302					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.S302S(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TTGCTTCAAACGAAGCTTCTG	0.607																																						ENST00000340462.4																			1	Substitution - coding silent(1)	p.S302S(1)	large_intestine(1)	large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(835-837)tcG>tcA		Z-DNA binding protein 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	127	140	135		903,681,906	-8	0	20		135	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ZBP1	NM_001160417.1,NM_001160418.1,NM_030776.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	301/429,227/355,302/430	56185392	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56185392C>T	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"DNA-dependent activator of IRFs"	606750	"chromosome 20 open reading frame 183"	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.906G>A	20.37:g.56185392C>T						ZBP1_ENST00000395822.3_Silent_p.S227S|ZBP1_ENST00000371173.3_Silent_p.S302S|ZBP1_ENST00000343535.4_Silent_p.S302S	p.S279S			Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		6	1117	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		302					A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	ENST00000371173.3	37	c.837G>A	CCDS13461.1																																																																																				0.607	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		9	141	0	0	0	1	0	9	141					T	56185392	C	T	56185392	2	4	435	1	0	0	0	0	0	0	0	1	17518	523	19	1		1	ZBP1	20	56185392	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	236642	56185392	6840128	8708	29633											
PMEPA1	56937	broad.mit.edu	37	chr20	56227286	56227286	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacctcgctgtaggtgggCggcggcccctccatgcgccc	4	7	14	16	4	0	1	0	1	0	0	2	1	1	1	5	4	1	2	5	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:56227286C>T	ENST00000341744.3	-	4	1006	c.687G>A	c.(685-687)ccG>ccA	p.P229P	PMEPA1_ENST00000395816.3_Silent_p.P179P|PMEPA1_ENST00000395814.1_Silent_p.P179P|PMEPA1_ENST00000265626.4_Silent_p.P179P|PMEPA1_ENST00000347215.4_Silent_p.P194P	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	229					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			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						TGTAGGTGGGCGGCGGCCCCT	0.716																																						ENST00000341744.3																			0				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						c.(685-687)ccG>ccA		prostate transmembrane protein, androgen induced 1							13	16	15					20																	56227286		2193	4289	6482	SO:0001819	synonymous_variant	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227286C>T	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"solid tumor-associated 1"	606564	"transmembrane, prostate androgen induced RNA"	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.687G>A	20.37:g.56227286C>T						PMEPA1_ENST00000395816.3_Silent_p.P179P|PMEPA1_ENST00000265626.4_Silent_p.P179P|PMEPA1_ENST00000395814.1_Silent_p.P179P|PMEPA1_ENST00000347215.4_Silent_p.P194P	p.P229P	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			4	1006	-			229					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Silent	SNP	ENST00000341744.3	37	c.687G>A	CCDS13463.1																																																																																				0.716	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		10	10	0	0	0	1	0	10	10					T	56227286	C	T	56227286	2	4	435	1	0	0	0	0	0	0	0	1	12132	755	27	1		1	PMEPA1	20	56227286	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	41894	56227286	6798234	8709	29634											
STX16	8675	broad.mit.edu	37	chr20	57243061	57243061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agattcagtatgatgttggcCggattaagcagaagatgaaa	15	10	12	4	1	1	5	1	2	0	3	1	6	1	6	1	2	1	3	1	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:57243061C>T	ENST00000371141.4	+	4	995	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	STX16_ENST00000496003.1_3'UTR|STX16_ENST00000371132.4_Missense_Mutation_p.R70W|STX16_ENST00000355957.5_Missense_Mutation_p.R74W|STX16_ENST00000359617.4_Missense_Mutation_p.R38W|STX16_ENST00000361830.3_Missense_Mutation_p.R91W|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.R91W|STX16_ENST00000358029.4_Missense_Mutation_p.R87W|STX16_ENST00000361770.5_Missense_Mutation_p.R74W	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	91					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			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)			TGATGTTGGCCGGATTAAGCA	0.468																																						ENST00000371141.4																			0				breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(271-273)Cgg>Tgg		syntaxin 16							128	115	120					20																	57243061		2203	4300	6503	SO:0001583	missense	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57243061C>T	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.271C>T	20.37:g.57243061C>T	ENSP00000360183:p.Arg91Trp					STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.R91W|STX16_ENST00000359617.4_Missense_Mutation_p.R38W|STX16_ENST00000358029.4_Missense_Mutation_p.R87W|STX16_ENST00000361830.3_Missense_Mutation_p.R91W|STX16_ENST00000361770.5_Missense_Mutation_p.R74W|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000355957.5_Missense_Mutation_p.R74W|STX16_ENST00000371132.4_Missense_Mutation_p.R70W	p.R91W	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		4	995	+	all_lung(29;0.0175)		91					A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	ENST00000371141.4	37	c.271C>T	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172448	0.78452	.	.	ENSG00000124222	ENST00000458280;ENST00000355957;ENST00000361770;ENST00000312283;ENST00000412911;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253	T;T;T;T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.31	4.3	0.51218	t-SNARE (1);Syntaxin, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.49592	0.1566	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.978;0.975;0.988;0.993	T	0.56842	-0.7912	10	0.87932	D	0	.	12.4528	0.55686	0.2323:0.7677:0.0:0.0	.	87;74;70;91	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	W	38;74;74;38;38;38;91;38;70;87;91;33	ENSP00000388348:R38W;ENSP00000348229:R74W;ENSP00000355408:R74W;ENSP00000312086:R38W;ENSP00000416852:R38W;ENSP00000352634:R38W;ENSP00000360183:R91W;ENSP00000360173:R70W;ENSP00000350723:R87W;ENSP00000354445:R91W;ENSP00000401801:R33W	ENSP00000360180:R38W	R	+	1	2	STX16	56676467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.094000	0.50227	2.490000	0.84030	0.585000	0.79938	CGG		0.468	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		12	23	0	0	0	1	0	12	23					T	57243061	C	T	57243061	3	4	435	1	0	0	0	0	1	0	0	0	15338	643	23	2	285	2	STX16	20	57243061	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1015775	57243061	5782459	8710	29635											
STX16	8675	broad.mit.edu	37	chr20	57246283	57246283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcgggaacgagagattcGccagattgtacagtccattt	12	9	12	8	3	0	3	0	0	0	3	2	6	1	4	2	1	3	1	2	1	2	4	rs148806774		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:57246283G>A	ENST00000371141.4	+	7	1446	c.722G>A	c.(721-723)cGc>cAc	p.R241H	STX16_ENST00000496003.1_Intron|STX16_ENST00000371132.4_Missense_Mutation_p.R220H|STX16_ENST00000355957.5_Missense_Mutation_p.R224H|STX16_ENST00000359617.4_Missense_Mutation_p.R188H|STX16_ENST00000361830.3_Missense_Mutation_p.R241H|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.R241H|STX16_ENST00000358029.4_Missense_Mutation_p.R237H|STX16_ENST00000361770.5_Missense_Mutation_p.R224H	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	241	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			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)			CGAGAGATTCGCCAGATTGTA	0.488																																						ENST00000371141.4																			0				breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(721-723)cGc>cAc		syntaxin 16							146	132	137					20																	57246283		2203	4300	6503	SO:0001583	missense	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57246283G>A	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.722G>A	20.37:g.57246283G>A	ENSP00000360183:p.Arg241His					STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.R241H|STX16_ENST00000359617.4_Missense_Mutation_p.R188H|STX16_ENST00000358029.4_Missense_Mutation_p.R237H|STX16_ENST00000361830.3_Missense_Mutation_p.R241H|STX16_ENST00000361770.5_Missense_Mutation_p.R224H|STX16_ENST00000496003.1_Intron|STX16_ENST00000355957.5_Missense_Mutation_p.R224H|STX16_ENST00000371132.4_Missense_Mutation_p.R220H	p.R241H	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		7	1446	+	all_lung(29;0.0175)		241			t-SNARE coiled-coil homology.		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	ENST00000371141.4	37	c.722G>A	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.639042	0.47153	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000312283;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000435446	T;T;T;T;T;T;T;T	0.46819	1.88;1.88;0.86;1.88;1.88;1.88;1.88;1.88	5.79	2.79	0.32731	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.000000	0.85682	U	0.000000	T	0.36276	0.0961	L	0.42529	1.33	0.49483	D	0.999794	B;B;P;B	0.37122	0.013;0.01;0.583;0.011	B;B;B;B	0.36335	0.025;0.01;0.222;0.027	T	0.08722	-1.0708	10	0.46703	T	0.11	.	7.5975	0.28056	0.1402:0.0:0.725:0.1349	.	237;224;220;241	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	H	224;224;188;188;241;188;220;237;241;55	ENSP00000348229:R224H;ENSP00000355408:R224H;ENSP00000312086:R188H;ENSP00000352634:R188H;ENSP00000360183:R241H;ENSP00000360173:R220H;ENSP00000350723:R237H;ENSP00000354445:R241H	ENSP00000360180:R188H	R	+	2	0	STX16	56679689	1.000000	0.71417	0.857000	0.33713	0.443000	0.32047	4.532000	0.60608	0.362000	0.24319	0.650000	0.86243	CGC		0.488	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		21	34	0	0	0	1	0	21	34					A	57246283	G	A	57246283	3	1	435	1	0	0	0	0	1	0	0	0	15338	1087	38	1	748	1	STX16	20	57246283	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3222	57246283	5779237	8711	29636											
NPEPL1	79716	broad.mit.edu	37	chr20	57269496	57269496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agatggtctgcgagcagccgGaggtctttgcttccgcctgt	5	11	14	11	3	2	1	0	0	2	1	3	3	3	2	3	3	4	2	3	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:57269496G>A	ENST00000356091.6	+	3	643	c.355G>A	c.(355-357)Gag>Aag	p.E119K	NPEPL1_ENST00000525967.1_Missense_Mutation_p.E91K|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.E71K	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	119						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)	p.E119K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CGAGCAGCCGGAGGTCTTTGC	0.667																																						ENST00000356091.6																			1	Substitution - Missense(1)	p.E119K(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						c.(355-357)Gag>Aag		aminopeptidase-like 1							68	76	73					20																	57269496		2037	4187	6224	SO:0001583	missense	79716				proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	g.chr20:57269496G>A	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.355G>A	20.37:g.57269496G>A	ENSP00000348395:p.Glu119Lys					STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.E71K|NPEPL1_ENST00000525967.1_Missense_Mutation_p.E91K	p.E119K	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)		3	643	+	all_lung(29;0.0175)		119					A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	ENST00000356091.6	37	c.355G>A	CCDS46621.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825132	0.50739	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.30981	1.51;1.53;1.52	4.58	4.58	0.56647	.	0.256963	0.43919	D	0.000510	T	0.36441	0.0967	L	0.56769	1.78	0.58432	D	0.999999	B;B;B;B	0.33103	0.018;0.018;0.078;0.397	B;B;B;B	0.38458	0.017;0.038;0.027;0.274	T	0.23547	-1.0185	10	0.41790	T	0.15	-15.9043	16.4186	0.83751	0.0:0.0:1.0:0.0	.	119;71;91;119	Q8NDH3;G5EA34;E9PN47;Q8NDH3-3	PEPL1_HUMAN;.;.;.	K	91;71;119	ENSP00000434810:E91K;ENSP00000437112:E71K;ENSP00000348395:E119K	ENSP00000348395:E119K	E	+	1	0	NPEPL1	56702903	1.000000	0.71417	0.040000	0.18447	0.077000	0.17291	9.406000	0.97321	2.122000	0.65172	0.549000	0.68633	GAG		0.667	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		25	52	0	0	0	1	0	25	52					A	57269496	G	A	57269496	3	1	435	1	0	0	0	0	1	0	0	0	10574	1175	41	3	211	3	NPEPL1	20	57269496	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23213	57269496	5756024	8712	29637											
NPEPL1	79716	broad.mit.edu	37	chr20	57289700	57289700	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccggagtctgggtccacCtggacattgctgcaccggtg	5	8	15	13	2	1	0	0	0	1	0	2	2	2	2	4	5	2	2	4	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:57289700C>A	ENST00000356091.6	+	11	1675	c.1387C>A	c.(1387-1389)Ctg>Atg	p.L463M	NPEPL1_ENST00000525967.1_Missense_Mutation_p.L435M|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.L415M	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	463						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CTGGGTCCACCTGGACATTGC	0.657																																						ENST00000356091.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						c.(1387-1389)Ctg>Atg		aminopeptidase-like 1							66	78	73					20																	57289700		2201	4296	6497	SO:0001583	missense	79716				proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	g.chr20:57289700C>A	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.1387C>A	20.37:g.57289700C>A	ENSP00000348395:p.Leu463Met					STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.L415M|NPEPL1_ENST00000525967.1_Missense_Mutation_p.L435M	p.L463M	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)		11	1675	+	all_lung(29;0.0175)		463					A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	ENST00000356091.6	37	c.1387C>A	CCDS46621.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388710	0.61956	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.56941	0.43;0.43;0.43	5.58	2.49	0.30216	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.234256	0.37348	N	0.002136	T	0.50086	0.1595	L	0.51422	1.61	0.35194	D	0.773614	P;P;P	0.41498	0.752;0.488;0.619	P;B;B	0.48488	0.579;0.443;0.409	T	0.59306	-0.7479	10	0.66056	D	0.02	-9.5656	4.6274	0.12484	0.1517:0.5091:0.261:0.0783	.	463;415;435	Q8NDH3;G5EA34;E9PN47	PEPL1_HUMAN;.;.	M	435;415;463	ENSP00000434810:L435M;ENSP00000437112:L415M;ENSP00000348395:L463M	ENSP00000348395:L463M	L	+	1	2	NPEPL1	56723107	0.994000	0.37717	1.000000	0.80357	0.856000	0.48823	2.091000	0.41691	0.684000	0.31448	0.650000	0.86243	CTG		0.657	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		3	2	1	0	1	1	1	3	2					A	57289700	C	A	57289700	3	1	435	1	0	0	0	0	1	0	0	0	10574	680	24	5	1275	5	NPEPL1	20	57289700	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20204	57289700	5735820	8713	29638											
TH1L	51497	broad.mit.edu	37	chr20	57564939	57564939	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgccacggggagcacacGtacctgtttgcccaggccat	7	8	13	13	2	0	0	0	0	0	0	0	1	0	1	4	3	4	3	4	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:57564939G>A	ENST00000344018.3	+	7	738	c.711G>A	c.(709-711)acG>acA	p.T237T	NELFCD_ENST00000602795.1_Silent_p.T246T			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	237					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											GGGAGCACACGTACCTGTTTG	0.642																																						ENST00000602795.1																			0											c.(736-738)acG>acA		negative elongation factor complex member C/D							70	58	62					20																	57564939		2203	4300	6503	SO:0001819	synonymous_variant	51497							g.chr20:57564939G>A	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"trihydrophobin 1"	605297	"TH1-like (Drosophila homolog)", "TH1-like (Drosophila)"	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.711G>A	20.37:g.57564939G>A						NELFCD_ENST00000344018.3_Silent_p.T237T	p.T246T							7	786	+								B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Silent	SNP	ENST00000344018.3	37	c.738G>A																																																																																					0.642	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		23	29	0	0	0	1	0	23	29					A	57564939	G	A	57564939	2	1	435	1	0	0	0	0	0	0	0	1	15836	1132	40	1		1	TH1L	20	57564939	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	275239	57564939	5460581	8714	29639											
TUBB1	81027	broad.mit.edu	37	chr20	57597952	57597952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacttggctgggagcgaccGcggggcctcggccttgcagc	4	6	17	14	5	0	0	0	0	0	0	1	3	0	1	3	5	3	2	3	5	0	2	rs375670709		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:57597952G>A	ENST00000217133.1	+	2	379	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	37					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			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)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGGAGCGACCGCGGGGCCTCG	0.597																																						ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(109-111)cGc>cAc		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	62	58	59		110	-3.2	0	20		59	0,8600		0,0,4300	no	missense	TUBB1	NM_030773.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	37/452	57597952	1,13005	2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57597952G>A	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"Tubulins"	16257	protein-coding gene	gene with protein product	"class VI beta-tubulin"	612901	"tubulin, beta 1"				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.110G>A	20.37:g.57597952G>A	ENSP00000217133:p.Arg37His						p.R37H	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		2	379	+	all_lung(29;0.00711)		37						Missense_Mutation	SNP	ENST00000217133.1	37	c.110G>A	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.894261	0.00522	2.27E-4	0.0	ENSG00000101162	ENST00000217133	T	0.68025	-0.3	4.36	-3.17	0.05202	Tubulin/FtsZ, GTPase domain (3);	1.322820	0.04588	N	0.396251	T	0.35537	0.0935	N	0.01284	-0.91	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31696	-0.9934	10	0.87932	D	0	.	5.8714	0.18805	0.5289:0.0:0.3404:0.1307	.	37	Q9H4B7	TBB1_HUMAN	H	37	ENSP00000217133:R37H	ENSP00000217133:R37H	R	+	2	0	TUBB1	57031347	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.225000	0.09151	-0.482000	0.06782	-0.145000	0.13849	CGC		0.597	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		9	17	0	0	0	1	0	9	17					A	57597952	G	A	57597952	3	1	435	1	0	0	0	0	1	0	0	0	16750	1087	38	1	116	1	TUBB1	20	57597952	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33013	57597952	5427568	8715	29640											
ZNF831	128611	broad.mit.edu	37	chr20	57829414	57829414	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggagaccttcatctggAcaaagaatttcagattcggt	12	10	10	9	1	3	3	2	0	1	3	4	5	3	4	2	3	0	0	2	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:57829414A>T	ENST00000371030.2	+	5	4650	c.4650A>T	c.(4648-4650)ggA>ggT	p.G1550G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1550							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			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)					CTTCATCTGGACAAAGAATTT	0.498																																						ENST00000371030.2																			0				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						c.(4648-4650)ggA>ggT		zinc finger protein 831							40	43	42					20																	57829414		1955	4158	6113	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829414A>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4650A>T	20.37:g.57829414A>T							p.G1550G	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			5	4650	+	all_lung(29;0.0085)		1550					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.4650A>T	CCDS42894.1																																																																																				0.498	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		7	10	0	0	0	1	0	7	10					T	57829414	A	T	57829414	2	4	435	1	0	0	0	0	0	0	0	1	18182	262	10	5		5	ZNF831	20	57829414	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	231462	57829414	5196106	8716	29641											
EDN3	1908	broad.mit.edu	37	chr20	57899383	57899383	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccccctttccccaagaCaggttgaagtcaaggaccaa	11	9	8	13	0	1	2	1	1	0	1	2	3	2	3	5	2	1	1	5	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:57899383C>T	ENST00000337938.2	+	5	974				EDN3_ENST00000395654.3_Splice_Site_p.Q182*|EDN3_ENST00000371025.3_Intron|EDN3_ENST00000311585.7_Intron|EDN3_ENST00000371028.2_Intron	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3						blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			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)					TTCCCCAAGACAGGTTGAAGT	0.498																																						ENST00000395654.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19						c.e4-1		endothelin 3							83	86	85					20																	57899383		2203	4300	6503	SO:0001627	intron_variant	1908				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	g.chr20:57899383C>T	X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"Endogenous ligands"	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.589-3C>T	20.37:g.57899383C>T						EDN3_ENST00000371028.2_Intron|EDN3_ENST00000311585.7_Intron|EDN3_ENST00000371025.3_Intron|EDN3_ENST00000337938.2_Intron	p.Q182_splice	NM_207033.1	NP_996916.1	P14138	EDN3_HUMAN			4	654	+	all_lung(29;0.0115)		196					E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Splice_Site	SNP	ENST00000337938.2	37	c.542_splice	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842047	0.32513	.	.	ENSG00000124205	ENST00000395654	.	.	.	4.78	-5.11	0.02901	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999952	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	13.1787	0.59642	0.0:0.6355:0.0:0.3645	.	.	.	.	X	182	.	ENSP00000379015:Q182X	Q	+	1	0	EDN3	57332778	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.751000	0.01821	-1.150000	0.02840	-1.021000	0.02439	CAG		0.498	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		6	73	0	0	0	1	0	6	73					T	57899383	C	T	57899383	1	4	435	0	1	0	0	0	0	0	0	0	4918	492	17	3		3	EDN3	20	57899383	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	69969	57899383	5126137	8717	29642											
SYCP2	10388	broad.mit.edu	37	chr20	58476773	58476773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attagtgatttctagtgatgCgtcaaaatacaaaagcaatt	16	13	7	5	1	2	2	1	2	1	0	2	2	2	2	0	0	3	1	0	0	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:58476773C>T	ENST00000357552.3	-	16	1351	c.1126G>A	c.(1126-1128)Gca>Aca	p.A376T	SYCP2_ENST00000371001.2_Missense_Mutation_p.A376T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	376					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			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)			TCTAGTGATGCGTCAAAATAC	0.274																																						ENST00000357552.3																			0				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						c.(1126-1128)Gca>Aca		synaptonemal complex protein 2							72	70	71					20																	58476773		2199	4288	6487	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58476773C>T	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1126G>A	20.37:g.58476773C>T	ENSP00000350162:p.Ala376Thr					SYCP2_ENST00000371001.2_Missense_Mutation_p.A376T	p.A376T			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		16	1351	-	all_lung(29;0.00344)		376					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.1126G>A	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966788	0.34659	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.18810	2.45;2.45;2.19	5.59	1.07	0.20283	.	1.172000	0.06052	N	0.656683	T	0.14743	0.0356	L	0.47716	1.5	0.19300	N	0.999979	B;B	0.27498	0.054;0.18	B;B	0.20384	0.013;0.029	T	0.31641	-0.9936	10	0.10636	T	0.68	-0.9909	2.8299	0.05496	0.1196:0.5126:0.129:0.2388	.	376;376	A2A341;Q9BX26	.;SYCP2_HUMAN	T	376	ENSP00000360040:A376T;ENSP00000350162:A376T;ENSP00000402456:A376T	ENSP00000350162:A376T	A	-	1	0	SYCP2	57910168	0.660000	0.27420	0.619000	0.29118	0.977000	0.68977	-0.016000	0.12613	0.309000	0.22966	0.650000	0.86243	GCA		0.274	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		16	44	0	0	0	1	0	16	44					T	58476773	C	T	58476773	3	4	435	1	0	0	0	0	1	0	0	0	15429	768	27	1	3586	1	SYCP2	20	58476773	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	577390	58476773	4548747	8718	29643											
CDH26	60437	broad.mit.edu	37	chr20	58562607	58562607	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcagcttggagagcaaaaTtcaacatattgcatggcaat	15	10	8	8	0	2	1	2	0	0	1	2	2	2	1	0	2	4	4	0	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:58562607T>C	ENST00000244047.5	+	8	1248	c.937T>C	c.(937-939)Ttc>Ctc	p.F313L	CDH26_ENST00000348616.4_Missense_Mutation_p.F313L			Q8IXH8	CAD26_HUMAN	cadherin 26	313	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GAGAGCAAAATTCAACATATT	0.458																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(937-939)Ttc>Ctc		cadherin 26							114	92	100					20																	58562607		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58562607T>C	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.937T>C	20.37:g.58562607T>C	ENSP00000244047:p.Phe313Leu					CDH26_ENST00000244047.5_Missense_Mutation_p.F313L	p.F313L	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		8	1237	+	all_lung(29;0.00963)		313			Cadherin 3.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.937T>C		.	.	.	.	.	.	.	.	.	.	T	14.04	2.417314	0.42918	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.64991	-0.13;-0.13	4.66	3.52	0.40303	.	0.123149	0.56097	D	0.000027	T	0.72495	0.3467	M	0.75264	2.295	0.23685	N	0.997114	D	0.54772	0.968	P	0.59171	0.853	T	0.64723	-0.6340	10	0.87932	D	0	.	9.3926	0.38383	0.0:0.0:0.18:0.82	.	313	Q8IXH8-4	.	L	313	ENSP00000244047:F313L;ENSP00000339390:F313L	ENSP00000244047:F313L	F	+	1	0	CDH26	57996002	0.971000	0.33674	0.032000	0.17829	0.027000	0.11550	5.449000	0.66619	0.699000	0.31761	0.533000	0.62120	TTC		0.458	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		24	35	0	0	0	1	0	24	35					C	58562607	T	C	58562607	3	2	435	1	0	0	0	0	1	0	0	0	3110	1493	52	4	967	4	CDH26	20	58562607	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	85834	58562607	4462913	8719	29644											
CDH26	60437	broad.mit.edu	37	chr20	58562618	58562618	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagcaaaattcaacatattGcatggcaatgaagaggggca	17	7	11	6	0	1	3	1	1	0	2	1	3	1	3	0	3	3	4	0	3	6	3	rs367871268		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:58562618G>A	ENST00000244047.5	+	8	1259	c.948G>A	c.(946-948)ttG>ttA	p.L316L	CDH26_ENST00000348616.4_Silent_p.L316L			Q8IXH8	CAD26_HUMAN	cadherin 26	316	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TCAACATATTGCATGGCAATG	0.463																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(946-948)ttG>ttA		cadherin 26		G		0,4406		0,0,2203	121	98	106		948	-7	0	20		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH26	NM_177980.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		316/833	58562618	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58562618G>A	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.948G>A	20.37:g.58562618G>A						CDH26_ENST00000244047.5_Silent_p.L316L	p.L316L	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		8	1248	+	all_lung(29;0.00963)		316			Cadherin 3.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.948G>A																																																																																					0.463	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		27	40	0	0	0	1	0	27	40					A	58562618	G	A	58562618	2	1	435	1	0	0	0	0	0	0	0	1	3110	1310	46	3		3	CDH26	20	58562618	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11	58562618	4462902	8720	29645											
CDH26	60437	broad.mit.edu	37	chr20	58564159	58564159	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtcaataaagaggagggCgccaggcctgggaccctgtt	10	8	14	9	1	1	1	1	0	0	1	1	3	1	3	3	4	0	1	3	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:58564159C>T	ENST00000244047.5	+	9	1535	c.1224C>T	c.(1222-1224)ggC>ggT	p.G408G	CDH26_ENST00000348616.4_Silent_p.G408G			Q8IXH8	CAD26_HUMAN	cadherin 26	408	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AAGAGGAGGGCGCCAGGCCTG	0.562																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1222-1224)ggC>ggT		cadherin 26							148	175	165					20																	58564159		2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58564159C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1224C>T	20.37:g.58564159C>T						CDH26_ENST00000244047.5_Silent_p.G408G	p.G408G	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		9	1524	+	all_lung(29;0.00963)		408			Cadherin 4.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.1224C>T																																																																																					0.562	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		53	109	0	0	0	1	0	53	109					T	58564159	C	T	58564159	2	4	435	1	0	0	0	0	0	0	0	1	3110	755	27	1		1	CDH26	20	58564159	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1541	58564159	4461361	8721	29646											
CDH26	60437	broad.mit.edu	37	chr20	58571005	58571005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtccatgtaaggatctGcccctgtgccagtgggctca	8	10	11	12	0	2	0	1	0	1	0	3	1	3	1	4	2	3	2	4	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:58571005G>A	ENST00000244047.5	+	12	2095	c.1784G>A	c.(1783-1785)tGc>tAc	p.C595Y	CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000348616.4_Missense_Mutation_p.C595Y|CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000497614.1_3'UTR			Q8IXH8	CAD26_HUMAN	cadherin 26	595					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTAAGGATCTGCCCCTGTGCC	0.532																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1783-1785)tGc>tAc		cadherin 26							123	106	112					20																	58571005		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58571005G>A	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1784G>A	20.37:g.58571005G>A	ENSP00000244047:p.Cys595Tyr					CDH26_ENST00000244047.5_Missense_Mutation_p.C595Y|CDH26_ENST00000497614.1_3'UTR	p.C595Y	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		12	2084	+	all_lung(29;0.00963)		595					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.1784G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.99|13.99	2.403250|2.403250	0.42613|0.42613	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000370991|ENST00000244047;ENST00000348616	.|T;T	.|0.61627	.|0.09;0.09	4.56|4.56	4.56|4.56	0.56223|0.56223	.|Cadherin-like (1);	.|0.058626	.|0.64402	.|D	.|0.000002	T|T	0.77935|0.77935	0.4205|0.4205	M|M	0.82517|0.82517	2.595|2.595	0.36788|0.36788	D|D	0.884709|0.884709	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.85178|0.85178	0.1002|0.1002	5|10	.|0.87932	.|D	.|0	.|.	16.4509|16.4509	0.83990|0.83990	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|595;595	.|Q8IXH8;Q8IXH8-4	.|CAD26_HUMAN;.	T|Y	187|595	.|ENSP00000244047:C595Y;ENSP00000339390:C595Y	.|ENSP00000244047:C595Y	A|C	+|+	1|2	0|0	CDH26|CDH26	58004400|58004400	0.997000|0.997000	0.39634|0.39634	0.026000|0.026000	0.17262|0.17262	0.354000|0.354000	0.29330|0.29330	3.999000|3.999000	0.57031|0.57031	2.239000|2.239000	0.73571|0.73571	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.532	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		22	27	0	0	0	1	0	22	27					A	58571005	G	A	58571005	3	1	435	1	0	0	0	0	1	0	0	0	3110	1319	46	3	1830	3	CDH26	20	58571005	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6846	58571005	4454515	8722	29647											
TAF4	6874	broad.mit.edu	37	chr20	60581673	60581673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggccgccgtcttcccggCcgtgcgctggaccgagctac	3	7	15	16	6	1	0	0	0	1	0	2	2	2	1	5	4	3	2	5	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60581673C>T	ENST00000252996.4	-	7	2115	c.2116G>A	c.(2116-2118)Gcc>Acc	p.A706T		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	706					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			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)			GTCTTCCCGGCCGTGCGCTGG	0.721																																						ENST00000252996.3																			0				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						c.(2116-2118)Gcc>Acc		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							16	19	18					20																	60581673		2197	4282	6479	SO:0001583	missense	6874				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	g.chr20:60581673C>T	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2116G>A	20.37:g.60581673C>T	ENSP00000252996:p.Ala706Thr					TAF4_ENST00000488539.1_5'UTR	p.A706T	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		7	2115	-	Breast(26;1e-08)		706					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2116G>A	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954498	0.73902	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.26223	1.76;1.75	5.46	5.46	0.80206	.	0.192215	0.45606	D	0.000353	T	0.45518	0.1346	L	0.47716	1.5	0.58432	D	0.999997	D	0.69078	0.997	D	0.77004	0.989	T	0.09997	-1.0649	10	0.28530	T	0.3	-18.8187	19.2974	0.94128	0.0:1.0:0.0:0.0	.	706	O00268	TAF4_HUMAN	T	706;570	ENSP00000252996:A706T;ENSP00000399091:A570T	ENSP00000252996:A706T	A	-	1	0	TAF4	60015068	0.998000	0.40836	0.999000	0.59377	0.981000	0.71138	5.108000	0.64609	2.550000	0.86006	0.563000	0.77884	GCC		0.721	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		5	9	0	0	0	1	0	5	9					T	60581673	C	T	60581673	3	4	435	1	0	0	0	0	1	0	0	0	15523	739	26	3	1177	3	TAF4	20	60581673	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2010668	60581673	2443847	8723	29648											
LSM14B	149986	broad.mit.edu	37	chr20	60701437	60701437	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccgagggatggcgccctaCggcccgctggcggccagctc	4	6	15	16	5	0	0	0	0	0	0	2	2	1	1	4	5	2	2	4	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60701437C>T	ENST00000279068.6	+	3	529	c.369C>T	c.(367-369)taC>taT	p.Y123Y	LSM14B_ENST00000253001.4_Silent_p.Y123Y|LSM14B_ENST00000370915.1_Silent_p.Y123Y	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	123					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TGGCGCCCTACGGCCCGCTGG	0.627																																						ENST00000253001.4																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(367-369)taC>taT		LSM14B, SCD6 homolog B (S. cerevisiae)							45	47	46					20																	60701437		2046	4178	6224	SO:0001819	synonymous_variant	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60701437C>T	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 40", "family with sequence similarity 61, member B", "LSM14 homolog B (SCD6, S. cerevisiae)"	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.369C>T	20.37:g.60701437C>T						LSM14B_ENST00000279068.6_Silent_p.Y123Y|LSM14B_ENST00000370915.1_Silent_p.Y123Y	p.Y123Y			Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		3	575	+	Breast(26;3.97e-09)		123					Q6PFW8|Q96LH8	Silent	SNP	ENST00000279068.6	37	c.369C>T	CCDS46626.1																																																																																				0.627	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703		8	18	0	0	0	1	0	8	18					T	60701437	C	T	60701437	2	4	435	1	0	0	0	0	0	0	0	1	9055	547	19	1		1	LSM14B	20	60701437	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	119764	60701437	2324083	8724	29649											
SS18L1	26039	broad.mit.edu	37	chr20	60733759	60733759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccaccacctgatccagtGcatcctggagtaccagagca	12	6	9	14	0	0	2	0	1	0	1	2	4	2	3	6	1	4	3	6	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60733759G>A	ENST00000331758.3	+	2	127	c.101G>A	c.(100-102)tGc>tAc	p.C34Y	SS18L1_ENST00000370848.4_5'Flank|SS18L1_ENST00000421564.1_Missense_Mutation_p.C34Y	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	34	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CTGATCCAGTGCATCCTGGAG	0.627			T	SSX1	synovial sarcoma																																	ENST00000331758.3				Dom	yes		20	20q13.3	26039	T	synovial sarcoma translocation gene on chromosome 18-like 1			M	SSX1		synovial sarcoma	SS18L1/SSX1(2)	0				ovary(2)|skin(1)	3						c.(100-102)tGc>tAc		synovial sarcoma translocation gene on chromosome 18-like 1							89	63	72					20																	60733759		2203	4299	6502	SO:0001583	missense	26039				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore		g.chr20:60733759G>A	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.101G>A	20.37:g.60733759G>A	ENSP00000333012:p.Cys34Tyr					SS18L1_ENST00000421564.1_Missense_Mutation_p.C34Y	p.C34Y	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		2	127	+	Breast(26;3.97e-09)		34			N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	ENST00000331758.3	37	c.101G>A	CCDS13491.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306878	0.95629	.	.	ENSG00000184402	ENST00000421564;ENST00000331758	T;T	0.34859	1.34;1.34	5.38	5.38	0.77491	.	.	.	.	.	T	0.62829	0.2460	M	0.76170	2.325	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.66416	-0.5929	9	0.87932	D	0	.	19.1325	0.93413	0.0:0.0:1.0:0.0	.	34;34	B4DSR7;O75177	.;CREST_HUMAN	Y	34	ENSP00000393999:C34Y;ENSP00000333012:C34Y	ENSP00000333012:C34Y	C	+	2	0	SS18L1	60167154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.456000	0.97628	2.533000	0.85409	0.591000	0.81541	TGC		0.627	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			19	19	0	0	0	1	0	19	19					A	60733759	G	A	60733759	3	1	435	1	0	0	0	0	1	0	0	0	15175	1319	46	3	107	3	SS18L1	20	60733759	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32322	60733759	2291761	8725	29650											
GTPBP5	26164	broad.mit.edu	37	chr20	60773769	60773769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagatgagtacattgccgCgctgggcggggcaggaggga	8	5	21	7	3	0	2	0	1	0	1	0	5	0	4	1	6	2	3	1	6	1	2	rs138156304	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60773769C>T	ENST00000370823.3	+	5	566	c.548C>T	c.(547-549)gCg>gTg	p.A183V	MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	183	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										TACATTGCCGCGCTGGGCGGG	0.637													C|||	2	0.000399361	0.0015	0	5008	,	,		18212	0		0	False		,,,				2504	0					ENST00000370823.3																			0											c.(547-549)gCg>gTg		mitochondrial ribosome-associated GTPase 2		C	VAL/ALA	4,4402	8.1+/-20.4	0,4,2199	97	75	82		548	5.5	0.1	20	dbSNP_134	82	0,8600		0,0,4300	yes	missense	GTPBP5	NM_015666.3	64	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	possibly-damaging	183/407	60773769	4,13002	2203	4300	6503	SO:0001583	missense	26164							g.chr20:60773769C>T	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"GTP-binding protein 5 (putative)", "GTP binding protein 5 (putative)"	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.548C>T	20.37:g.60773769C>T	ENSP00000359859:p.Ala183Val					MTG2_ENST00000436421.2_Intron|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000461411.1_3'UTR	p.A183V	NM_015666.3	NP_056481.1					5	566	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	ENST00000370823.3	37	c.548C>T	CCDS13492.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.38	2.519481	0.44866	9.08E-4	0.0	ENSG00000101181	ENST00000370823;ENST00000448254	T;T	0.26373	1.74;1.74	5.52	5.52	0.82312	GTP1/OBG subdomain (3);	0.102097	0.64402	D	0.000003	T	0.49150	0.1540	M	0.87328	2.875	0.80722	D	1	D;D	0.60160	0.977;0.987	P;P	0.55577	0.636;0.779	T	0.55418	-0.8144	10	0.54805	T	0.06	-29.0069	13.697	0.62587	0.0:0.9264:0.0:0.0736	.	183;183	Q5JXJ0;Q9H4K7	.;GTPB5_HUMAN	V	183	ENSP00000359859:A183V;ENSP00000414693:A183V	ENSP00000359859:A183V	A	+	2	0	GTPBP5	60207164	0.755000	0.28372	0.139000	0.22197	0.080000	0.17528	1.408000	0.34668	2.586000	0.87340	0.561000	0.74099	GCG		0.637	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		11	17	0	0	0	1	0	11	17					T	60773769	C	T	60773769	3	4	435	1	0	0	0	0	1	0	0	0	6883	768	27	1	562	1	GTPBP5	20	60773769	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	40010	60773769	2251751	8726	29651											
OSBPL2	9885	broad.mit.edu	37	chr20	60859167	60859167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggggcatagatcctgtttCgtatgaatccttcaagaagc	10	12	11	8	1	1	3	1	1	0	2	4	3	3	3	2	2	1	3	2	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60859167C>T	ENST00000313733.3	+	10	1140	c.938C>T	c.(937-939)tCg>tTg	p.S313L	OSBPL2_ENST00000439951.2_Missense_Mutation_p.S221L|OSBPL2_ENST00000358053.2_Missense_Mutation_p.S301L	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	313					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GATCCTGTTTCGTATGAATCC	0.483																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(937-939)tCg>tTg		oxysterol binding protein-like 2							100	92	95					20																	60859167		2203	4300	6503	SO:0001583	missense	9885				lipid transport		lipid binding	g.chr20:60859167C>T	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"Oxysterol binding proteins"	15761	protein-coding gene	gene with protein product		606731	"oxysterol-binding protein-like 2"			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.938C>T	20.37:g.60859167C>T	ENSP00000316649:p.Ser313Leu					OSBPL2_ENST00000439951.2_Missense_Mutation_p.S221L|OSBPL2_ENST00000358053.2_Missense_Mutation_p.S301L	p.S313L	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		10	1140	+	Breast(26;7.76e-09)		313					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	c.938C>T	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	C	8.104	0.777285	0.16120	.	.	ENSG00000130703	ENST00000358053;ENST00000313733;ENST00000439951	T;T;T	0.33216	1.42;1.42;1.42	5.2	5.2	0.72013	.	0.384991	0.29073	N	0.013234	T	0.27765	0.0683	L	0.33624	1.015	0.09310	N	1	B;B;B;B	0.11235	0.004;0.001;0.0;0.001	B;B;B;B	0.11329	0.006;0.002;0.001;0.002	T	0.10177	-1.0641	10	0.34782	T	0.22	-14.6156	18.6933	0.91592	0.0:1.0:0.0:0.0	.	221;313;301;313	E7ET92;B2RDK3;Q9H1P3-2;Q9H1P3	.;.;.;OSBL2_HUMAN	L	301;313;221	ENSP00000350755:S301L;ENSP00000316649:S313L;ENSP00000397602:S221L	ENSP00000316649:S313L	S	+	2	0	OSBPL2	60292562	0.002000	0.14202	0.005000	0.12908	0.006000	0.05464	1.752000	0.38349	2.568000	0.86640	0.655000	0.94253	TCG		0.483	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		30	29	0	0	0	1	0	30	29					T	60859167	C	T	60859167	3	4	435	1	0	0	0	0	1	0	0	0	11278	893	31	2	972	2	OSBPL2	20	60859167	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	85398	60859167	2166353	8727	29652											
LAMA5	3911	broad.mit.edu	37	chr20	60889421	60889421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcgatgcttaggactgcagGgcccgcctcacccagctgat	8	8	11	14	2	1	1	1	1	0	0	2	3	1	2	3	2	3	3	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60889421G>A	ENST00000252999.3	-	62	8509	c.8443C>T	c.(8443-8445)Cct>Tct	p.P2815S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2815	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			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)			AGGACTGCAGGGCCCGCCTCA	0.617																																						ENST00000252999.3																			0				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						c.(8443-8445)Cct>Tct		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						106	88	94					20																	60889421		2201	4300	6501	SO:0001583	missense	3911				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	g.chr20:60889421G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.8443C>T	20.37:g.60889421G>A	ENSP00000252999:p.Pro2815Ser						p.P2815S	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		62	8509	-	Breast(26;1.57e-08)		2815			Laminin G-like 1.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.8443C>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	9.853	1.194104	0.22037	.	.	ENSG00000130702	ENST00000252999	T	0.18657	2.2	3.88	2.88	0.33553	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.336263	0.31031	U	0.008389	T	0.15305	0.0369	L	0.35288	1.05	0.21355	N	0.999719	P	0.42078	0.77	B	0.40375	0.327	T	0.14200	-1.0481	10	0.12766	T	0.61	.	12.5536	0.56240	0.0:0.1699:0.83:0.0	.	2815	O15230	LAMA5_HUMAN	S	2815	ENSP00000252999:P2815S	ENSP00000252999:P2815S	P	-	1	0	LAMA5	60322816	0.966000	0.33281	0.002000	0.10522	0.012000	0.07955	5.252000	0.65445	0.560000	0.29169	0.457000	0.33378	CCT		0.617	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		9	22	0	0	0	1	0	9	22					A	60889421	G	A	60889421	3	1	435	1	0	0	0	0	1	0	0	0	8609	1232	43	3	2720	3	LAMA5	20	60889421	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	30254	60889421	2136099	8728	29653											
LAMA5	3911	broad.mit.edu	37	chr20	60892518	60892518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgcagcagtggggtcCgagccccatccaggctggcg	5	7	14	15	2	1	0	0	0	1	0	4	1	4	0	5	4	3	3	5	4	0	0	rs200632605		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60892518C>T	ENST00000252999.3	-	55	7460	c.7394G>A	c.(7393-7395)cGg>cAg	p.R2465Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2465	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			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)			CAGTGGGGTCCGAGCCCCATC	0.672													.|||	1	0.000199681	0	0	5008	,	,		17186	0.001		0	False		,,,				2504	0					ENST00000252999.3																			0				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						c.(7393-7395)cGg>cAg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						22	25	24					20																	60892518		2176	4263	6439	SO:0001583	missense	3911				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	g.chr20:60892518C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7394G>A	20.37:g.60892518C>T	ENSP00000252999:p.Arg2465Gln						p.R2465Q	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		55	7460	-	Breast(26;1.57e-08)		2465			Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.7394G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	14.39	2.522255	0.44866	.	.	ENSG00000130702	ENST00000252999	T	0.19806	2.12	3.54	3.54	0.40534	.	0.279863	0.31589	U	0.007392	T	0.17280	0.0415	M	0.62723	1.935	0.43462	D	0.99566	B	0.34181	0.44	B	0.19148	0.024	T	0.05084	-1.0907	10	0.27082	T	0.32	.	10.1161	0.42591	0.0:0.894:0.0:0.106	.	2465	O15230	LAMA5_HUMAN	Q	2465	ENSP00000252999:R2465Q	ENSP00000252999:R2465Q	R	-	2	0	LAMA5	60325913	0.000000	0.05858	0.254000	0.24359	0.059000	0.15707	0.577000	0.23758	1.522000	0.49001	0.436000	0.28706	CGG		0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		8	17	0	0	0	1	0	8	17					T	60892518	C	T	60892518	3	4	435	1	0	0	0	0	1	0	0	0	8609	652	23	2	3797	2	LAMA5	20	60892518	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3097	60892518	2133002	8729	29654											
LAMA5	3911	broad.mit.edu	37	chr20	60895811	60895811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtacctgcaggtcagcgatgGaggcgttcagcctgtgcaga	8	8	15	10	2	2	1	2	0	0	1	2	3	2	2	2	3	5	4	2	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60895811G>A	ENST00000252999.3	-	49	6698	c.6632C>T	c.(6631-6633)tCc>tTc	p.S2211F		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2211	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			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)			GTCAGCGATGGAGGCGTTCAG	0.677																																						ENST00000252999.3																			0				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						c.(6631-6633)tCc>tTc		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						46	40	42					20																	60895811		2186	4278	6464	SO:0001583	missense	3911				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	g.chr20:60895811G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6632C>T	20.37:g.60895811G>A	ENSP00000252999:p.Ser2211Phe						p.S2211F	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		49	6698	-	Breast(26;1.57e-08)		2211			Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.6632C>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	-	22.1	4.242062	0.79912	.	.	ENSG00000130702	ENST00000252999	T	0.10573	2.86	4.23	4.23	0.50019	Laminin I (1);	0.239775	0.43579	D	0.000549	T	0.27241	0.0668	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.01972	-1.1237	10	0.62326	D	0.03	.	17.2045	0.86914	0.0:0.0:1.0:0.0	.	2211	O15230	LAMA5_HUMAN	F	2211	ENSP00000252999:S2211F	ENSP00000252999:S2211F	S	-	2	0	LAMA5	60329206	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	7.289000	0.78701	2.354000	0.79902	0.537000	0.68136	TCC		0.677	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		4	13	0	0	0	1	0	4	13					A	60895811	G	A	60895811	3	1	435	1	0	0	0	0	1	0	0	0	8609	1174	41	3	4583	3	LAMA5	20	60895811	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3293	60895811	2129709	8730	29655											
LAMA5	3911	broad.mit.edu	37	chr20	60904261	60904261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttatccaggggctcctcccGgaggtagccaaagctgtaga	9	9	12	11	1	0	1	0	0	0	1	3	2	3	2	4	4	2	4	4	4	4	4	rs563144177		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60904261G>A	ENST00000252999.3	-	33	4234	c.4168C>T	c.(4168-4170)Cgg>Tgg	p.R1390W		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1390	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			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)			GGCTCCTCCCGGAGGTAGCCA	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		16748	0		0	False		,,,				2504	0					ENST00000252999.3																			0				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						c.(4168-4170)Cgg>Tgg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						58	66	63					20																	60904261		2203	4299	6502	SO:0001583	missense	3911				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	g.chr20:60904261G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4168C>T	20.37:g.60904261G>A	ENSP00000252999:p.Arg1390Trp						p.R1390W	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		33	4234	-	Breast(26;1.57e-08)		1390			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.4168C>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267478	0.40095	.	.	ENSG00000130702	ENST00000252999	T	0.19532	2.14	4.7	2.66	0.31614	.	0.785271	0.12264	U	0.484426	T	0.18882	0.0453	L	0.47716	1.5	0.19300	N	0.999971	D	0.65815	0.995	B	0.44315	0.446	T	0.16867	-1.0388	10	0.62326	D	0.03	.	3.9881	0.09525	0.0788:0.1421:0.4862:0.293	.	1390	O15230	LAMA5_HUMAN	W	1390	ENSP00000252999:R1390W	ENSP00000252999:R1390W	R	-	1	2	LAMA5	60337656	0.830000	0.29337	0.092000	0.20876	0.794000	0.44872	1.615000	0.36922	0.353000	0.24079	-0.310000	0.09108	CGG		0.637	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		22	40	0	0	0	1	0	22	40					A	60904261	G	A	60904261	3	1	435	1	0	0	0	0	1	0	0	0	8609	1115	39	2	7111	2	LAMA5	20	60904261	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8450	60904261	2121259	8731	29656											
LAMA5	3911	broad.mit.edu	37	chr20	60904282	60904282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtagccaaagctgtagaCgttctcagggaccacgagta	12	7	13	9	2	1	1	1	0	1	1	2	4	1	2	2	2	2	5	2	2	4	4	rs202031005		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60904282C>T	ENST00000252999.3	-	33	4213	c.4147G>A	c.(4147-4149)Gtc>Atc	p.V1383I		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1383	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			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)			AAGCTGTAGACGTTCTCAGGG	0.637																																						ENST00000252999.3																			0				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						c.(4147-4149)Gtc>Atc		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	58	64	62		4147	2.8	0.2	20		62	0,8598		0,0,4299	yes	missense	LAMA5	NM_005560.3	29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	1383/3696	60904282	1,13003	2203	4299	6502	SO:0001583	missense	3911				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	g.chr20:60904282C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4147G>A	20.37:g.60904282C>T	ENSP00000252999:p.Val1383Ile						p.V1383I	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		33	4213	-	Breast(26;1.57e-08)		1383			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.4147G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	9.509	1.105271	0.20632	2.27E-4	0.0	ENSG00000130702	ENST00000252999	T	0.18338	2.22	4.79	2.85	0.33270	.	0.259442	0.42053	U	0.000763	T	0.10165	0.0249	N	0.22421	0.69	0.58432	D	0.999994	B	0.12013	0.005	B	0.06405	0.002	T	0.15350	-1.0440	10	0.39692	T	0.17	.	6.5521	0.22440	0.0:0.566:0.0:0.434	.	1383	O15230	LAMA5_HUMAN	I	1383	ENSP00000252999:V1383I	ENSP00000252999:V1383I	V	-	1	0	LAMA5	60337677	0.909000	0.30893	0.215000	0.23724	0.194000	0.23727	2.398000	0.44486	0.428000	0.26173	-0.254000	0.11334	GTC		0.637	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		25	35	0	0	0	1	0	25	35					T	60904282	C	T	60904282	3	4	435	1	0	0	0	0	1	0	0	0	8609	536	19	1	7132	1	LAMA5	20	60904282	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21	60904282	2121238	8732	29657											
GATA5	140628	broad.mit.edu	37	chr20	61041509	61041509	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttcatgtagaggccgcaGgcattgcacacgggctcccc	8	7	12	14	2	1	1	1	0	0	1	2	1	2	1	3	3	2	6	3	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61041509G>T	ENST00000252997.2	-	4	859	c.798C>A	c.(796-798)gcC>gcA	p.A266A		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	266			A -> P (probable disease-associated mutation found in patients with atrial fibrillation). {ECO:0000269|PubMed:22483626}.		blood coagulation (GO:0007596)|cellular response to BMP stimulus (GO:0071773)|intestinal epithelial cell differentiation (GO:0060575)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			AGAGGCCGCAGGCATTGCACA	0.701																																						ENST00000252997.2																			0				kidney(1)|lung(3)|ovary(1)|stomach(1)	6						c.(796-798)gcC>gcA		GATA binding protein 5							29	28	28					20																	61041509		2193	4291	6484	SO:0001819	synonymous_variant	140628				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	g.chr20:61041509G>T	BC047790, BC117356	CCDS13499.1	20q13.33	2013-07-17	2001-11-28		ENSG00000130700	ENSG00000130700		"GATA zinc finger domain containing"	15802	protein-coding gene	gene with protein product		611496	"GATA-binding protein 5"			9566909	Standard	NM_080473		Approved	bB379O24.1, GATAS	uc002ycx.1	Q9BWX5	OTTHUMG00000032919	ENST00000252997.2:c.798C>A	20.37:g.61041509G>T							p.A266A	NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.08e-06)		4	859	-	Breast(26;2.05e-08)		266					D9ZGF7|Q17RE2|Q86VU4	Silent	SNP	ENST00000252997.2	37	c.798C>A	CCDS13499.1																																																																																				0.701	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080038.2	NM_080473		3	2	1	0	0.004672	1	0.00472505	3	2					T	61041509	G	T	61041509	2	4	435	1	0	0	0	0	0	0	0	1	6257	987	35	5		5	GATA5	20	61041509	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	137227	61041509	1984011	8733	29658											
GATA5	140628	broad.mit.edu	37	chr20	61048565	61048565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtctcggcgccacagcGgtgtggacagggccccgcag	5	5	16	15	5	1	0	0	0	1	0	2	1	1	1	4	4	2	1	4	4	0	0	rs542925110		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61048565G>A	ENST00000252997.2	-	3	654	c.593C>T	c.(592-594)cCg>cTg	p.P198L		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	198					blood coagulation (GO:0007596)|cellular response to BMP stimulus (GO:0071773)|intestinal epithelial cell differentiation (GO:0060575)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			GCGCCACAGCGGTGTGGACAG	0.662													G|||	1	0.000199681	0	0	5008	,	,		11735	0		0	False		,,,				2504	0.001					ENST00000252997.2																			0				kidney(1)|lung(3)|ovary(1)|stomach(1)	6						c.(592-594)cCg>cTg		GATA binding protein 5							46	39	41					20																	61048565		2195	4298	6493	SO:0001583	missense	140628				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	g.chr20:61048565G>A	BC047790, BC117356	CCDS13499.1	20q13.33	2013-07-17	2001-11-28		ENSG00000130700	ENSG00000130700		"GATA zinc finger domain containing"	15802	protein-coding gene	gene with protein product		611496	"GATA-binding protein 5"			9566909	Standard	NM_080473		Approved	bB379O24.1, GATAS	uc002ycx.1	Q9BWX5	OTTHUMG00000032919	ENST00000252997.2:c.593C>T	20.37:g.61048565G>A	ENSP00000252997:p.Pro198Leu						p.P198L	NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.08e-06)		3	654	-	Breast(26;2.05e-08)		198					D9ZGF7|Q17RE2|Q86VU4	Missense_Mutation	SNP	ENST00000252997.2	37	c.593C>T	CCDS13499.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145994	0.94603	.	.	ENSG00000130700	ENST00000370545;ENST00000540404;ENST00000252997	D	0.99711	-6.49	4.78	4.78	0.61160	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96615	0.9455	10	0.87932	D	0	-39.3521	17.8742	0.88819	0.0:0.0:1.0:0.0	.	198	Q9BWX5	GATA5_HUMAN	L	198;218;198	ENSP00000252997:P198L	ENSP00000252997:P198L	P	-	2	0	GATA5	60481960	1.000000	0.71417	0.982000	0.44146	0.840000	0.47671	9.681000	0.98653	2.218000	0.71995	0.556000	0.70494	CCG		0.662	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080038.2	NM_080473		3	3	0	0	0	1	0	3	3					A	61048565	G	A	61048565	3	1	435	1	0	0	0	0	1	0	0	0	6257	1116	39	2	620	2	GATA5	20	61048565	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7056	61048565	1976955	8734	29659											
NTSR1	4923	broad.mit.edu	37	chr20	61340858	61340858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagagcctgcagagcaCggtgcattaccacctgggca	9	6	13	13	1	0	2	0	0	0	2	0	2	0	2	3	2	6	6	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61340858C>T	ENST00000370501.3	+	1	670	c.299C>T	c.(298-300)aCg>aTg	p.T100M		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	100					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CTGCAGAGCACGGTGCATTAC	0.662																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(298-300)aCg>aTg		neurotensin receptor 1 (high affinity)							70	58	62					20																	61340858		2203	4299	6502	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61340858C>T		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.299C>T	20.37:g.61340858C>T	ENSP00000359532:p.Thr100Met						p.T100M	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		1	670	+	Breast(26;3.65e-08)		100					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.299C>T	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599044	0.46318	.	.	ENSG00000101188	ENST00000370501	T	0.38077	1.16	4.93	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.120716	0.53938	D	0.000042	T	0.58552	0.2130	M	0.72894	2.215	0.49389	D	0.999788	D	0.89917	1.0	D	0.81914	0.995	T	0.62959	-0.6743	10	0.62326	D	0.03	-26.6427	14.7348	0.69409	0.0:0.8537:0.1463:0.0	.	100	P30989	NTR1_HUMAN	M	100	ENSP00000359532:T100M	ENSP00000359532:T100M	T	+	2	0	NTSR1	60811303	1.000000	0.71417	0.850000	0.33497	0.003000	0.03518	4.682000	0.61671	1.038000	0.40049	0.561000	0.74099	ACG		0.662	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			6	16	0	0	0	1	0	6	16					T	61340858	C	T	61340858	3	4	435	1	0	0	0	0	1	0	0	0	10710	536	19	1	301	1	NTSR1	20	61340858	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	292293	61340858	1684662	8735	29660											
NTSR1	4923	broad.mit.edu	37	chr20	61340973	61340973	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccctgggccttcggcgaCgccggctgccgcggctacta	4	6	13	18	6	0	0	0	0	0	0	1	1	0	0	5	4	2	2	5	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61340973C>T	ENST00000370501.3	+	1	785	c.414C>T	c.(412-414)gaC>gaT	p.D138D		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	138					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CCTTCGGCGACGCCGGCTGCC	0.687																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(412-414)gaC>gaT		neurotensin receptor 1 (high affinity)							41	47	45					20																	61340973		2202	4299	6501	SO:0001819	synonymous_variant	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61340973C>T		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.414C>T	20.37:g.61340973C>T							p.D138D	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		1	785	+	Breast(26;3.65e-08)		138					Q9H4H1|Q9H4T5	Silent	SNP	ENST00000370501.3	37	c.414C>T	CCDS13502.1																																																																																				0.687	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			18	25	0	0	0	1	0	18	25					T	61340973	C	T	61340973	2	4	435	1	0	0	0	0	0	0	0	1	10710	535	19	1		1	NTSR1	20	61340973	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	115	61340973	1684547	8736	29661											
NTSR1	4923	broad.mit.edu	37	chr20	61389666	61389666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgccctaccacgtgcGgcgcctcatgttctgctaca	5	10	10	16	3	2	0	1	0	1	0	2	0	2	0	3	2	5	3	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61389666G>A	ENST00000370501.3	+	3	1336	c.965G>A	c.(964-966)cGg>cAg	p.R322Q	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	322	Neurotensin binding. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TACCACGTGCGGCGCCTCATG	0.587																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(964-966)cGg>cAg		neurotensin receptor 1 (high affinity)							159	110	127					20																	61389666		2203	4300	6503	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61389666G>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.965G>A	20.37:g.61389666G>A	ENSP00000359532:p.Arg322Gln					NTSR1_ENST00000482259.1_3'UTR	p.R322Q	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		3	1336	+	Breast(26;3.65e-08)		322					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.965G>A	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832510	0.71258	.	.	ENSG00000101188	ENST00000370501	T	0.72051	-0.62	4.36	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.074698	0.52532	N	0.000078	T	0.70422	0.3222	N	0.17379	0.485	0.50313	D	0.999865	D	0.71674	0.998	D	0.69142	0.962	T	0.66512	-0.5905	10	0.14252	T	0.57	-22.9404	16.8674	0.86033	0.0:0.0:1.0:0.0	.	322	P30989	NTR1_HUMAN	Q	322	ENSP00000359532:R322Q	ENSP00000359532:R322Q	R	+	2	0	NTSR1	60860111	1.000000	0.71417	0.972000	0.41901	0.938000	0.57974	8.025000	0.88777	1.976000	0.57569	0.467000	0.42956	CGG		0.587	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			21	25	0	0	0	1	0	21	25					A	61389666	G	A	61389666	3	1	435	1	0	0	0	0	1	0	0	0	10710	1116	39	2	975	2	NTSR1	20	61389666	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	48693	61389666	1635854	8737	29662											
COL9A3	1299	broad.mit.edu	37	chr20	61467852	61467852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaggccagcgagcagcGcatcagggagctgtgtgggg	9	4	20	8	2	1	0	1	0	0	0	1	4	1	2	1	5	4	3	1	5	1	0	rs373382239		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61467852G>A	ENST00000343916.3	+	29	1574	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	COL9A3_ENST00000462700.1_Intron	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	524	Nonhelical region 3 (NC3).			R -> H (in Ref. 5; CAA62495). {ECO:0000305}.	axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					AGCGAGCAGCGCATCAGGGAG	0.672																																						ENST00000343916.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1570-1572)cGc>cAc		collagen, type IX, alpha 3		G	HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	31	35	34		1571	2.2	1	20		34	0,8600		0,0,4300	no	missense	COL9A3	NM_001853.3	29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	524/685	61467852	1,13003	2202	4300	6502	SO:0001583	missense	1299				axon guidance	collagen type IX		g.chr20:61467852G>A	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1571G>A	20.37:g.61467852G>A	ENSP00000341640:p.Arg524His					COL9A3_ENST00000462700.1_Intron	p.R524H	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN			29	1574	+	Breast(26;5.68e-08)		524	R -> H (in Ref. 5; CAA62495).		Nonhelical region 3 (NC3).		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	c.1571G>A	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.424080	0.43020	2.27E-4	0.0	ENSG00000092758	ENST00000343916	D	0.94280	-3.39	4.33	2.18	0.27775	.	0.156736	0.56097	N	0.000029	T	0.76772	0.4034	N	0.01352	-0.895	0.40860	D	0.983826	B;B	0.12013	0.005;0.0	B;B	0.04013	0.001;0.0	T	0.63786	-0.6558	10	0.29301	T	0.29	.	5.253	0.15532	0.6744:0.0:0.3256:0.0	.	27;524	Q9BT15;Q14050	.;CO9A3_HUMAN	H	524	ENSP00000341640:R524H	ENSP00000341640:R524H	R	+	2	0	COL9A3	60938297	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	2.502000	0.45398	0.282000	0.22254	0.561000	0.74099	CGC		0.672	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		8	9	0	0	0	1	0	8	9					A	61467852	G	A	61467852	3	1	435	1	0	0	0	0	1	0	0	0	3709	1087	38	1	1685	1	COL9A3	20	61467852	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	78186	61467852	1557668	8738	29663											
DIDO1	11083	broad.mit.edu	37	chr20	61511164	61511164	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcactggaggagagcgcGgagggcggcccggcctcctc	5	3	19	14	5	0	1	0	0	0	1	2	4	1	3	3	7	1	1	3	7	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61511164G>A	ENST00000266070.4	-	16	6469	c.6144C>T	c.(6142-6144)tcC>tcT	p.S2048S	DIDO1_ENST00000395343.1_Silent_p.S2048S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2048					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			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)					AGGAGAGCGCGGAGGGCGGCC	0.721																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				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						c.(6142-6144)tcC>tcT		death inducer-obliterator 1							36	44	41					20																	61511164		2010	3928	5938	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511164G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6144C>T	20.37:g.61511164G>A						DIDO1_ENST00000395343.1_Silent_p.S2048S	p.S2048S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6469	-	Breast(26;5.68e-08)		2048					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.6144C>T	CCDS33506.1																																																																																				0.721	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		34	50	0	0	0	1	0	34	50					A	61511164	G	A	61511164	2	1	435	1	0	0	0	0	0	0	0	1	4522	1103	39	2		2	DIDO1	20	61511164	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43312	61511164	1514356	8739	29664											
DIDO1	11083	broad.mit.edu	37	chr20	61527732	61527732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtcatgattaagtcatcGctgtcattgactctgaacag	10	14	8	9	1	5	3	3	3	2	0	6	3	5	3	0	0	1	1	0	0	2	2	rs369989573		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61527732G>A	ENST00000266070.4	-	8	2392	c.2067C>T	c.(2065-2067)agC>agT	p.S689S	DIDO1_ENST00000395335.2_Silent_p.S689S|DIDO1_ENST00000395340.1_Silent_p.S689S|DIDO1_ENST00000395343.1_Silent_p.S689S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	689	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			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)					TTAAGTCATCGCTGTCATTGA	0.358																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				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						c.(2065-2067)agC>agT		death inducer-obliterator 1		G	,,,	1,4405	2.1+/-5.4	0,1,2202	81	76	77		2067,2067,2067,2067	-7.1	0.8	20		77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DIDO1	NM_001193369.1,NM_001193370.1,NM_033081.2,NM_080797.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	689/2241,689/1190,689/2241,689/1190	61527732	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61527732G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2067C>T	20.37:g.61527732G>A						DIDO1_ENST00000395343.1_Silent_p.S689S|DIDO1_ENST00000395340.1_Silent_p.S689S|DIDO1_ENST00000395335.2_Silent_p.S689S	p.S689S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			8	2392	-	Breast(26;5.68e-08)		689			TFIIS central.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.2067C>T	CCDS33506.1																																																																																				0.358	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		24	25	0	0	0	1	0	24	25					A	61527732	G	A	61527732	2	1	435	1	0	0	0	0	0	0	0	1	4522	1078	38	1		1	DIDO1	20	61527732	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16568	61527732	1497788	8740	29665											
DIDO1	11083	broad.mit.edu	37	chr20	61538606	61538606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaaacttcattgtcgctgCggcgtgtttgaggatacagt	9	13	12	7	3	1	2	1	1	0	1	2	3	1	3	0	2	3	2	0	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61538606C>T	ENST00000266070.4	-	5	1592	c.1267G>A	c.(1267-1269)Gca>Aca	p.A423T	DIDO1_ENST00000266071.5_Missense_Mutation_p.A423T|DIDO1_ENST00000370371.4_Missense_Mutation_p.A423T|DIDO1_ENST00000395335.2_Missense_Mutation_p.A423T|DIDO1_ENST00000370366.1_Missense_Mutation_p.A423T|DIDO1_ENST00000370368.1_Missense_Mutation_p.A423T|DIDO1_ENST00000354665.4_Missense_Mutation_p.A423T|DIDO1_ENST00000395340.1_Missense_Mutation_p.A423T|DIDO1_ENST00000395343.1_Missense_Mutation_p.A423T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	423					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A423T(1)		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)					ATTGTCGCTGCGGCGTGTTTG	0.522																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			1	Substitution - Missense(1)	p.A423T(1)	large_intestine(1)	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						c.(1267-1269)Gca>Aca		death inducer-obliterator 1							218	211	213					20																	61538606		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61538606C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1267G>A	20.37:g.61538606C>T	ENSP00000266070:p.Ala423Thr					DIDO1_ENST00000395343.1_Missense_Mutation_p.A423T|DIDO1_ENST00000370368.1_Missense_Mutation_p.A423T|DIDO1_ENST00000395340.1_Missense_Mutation_p.A423T|DIDO1_ENST00000395335.2_Missense_Mutation_p.A423T|DIDO1_ENST00000370366.1_Missense_Mutation_p.A423T|DIDO1_ENST00000266071.5_Missense_Mutation_p.A423T|DIDO1_ENST00000370371.4_Missense_Mutation_p.A423T|DIDO1_ENST00000354665.4_Missense_Mutation_p.A423T	p.A423T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			5	1592	-	Breast(26;5.68e-08)		423					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.1267G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136914	0.77662	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.23348	2.77;2.77;2.41;2.41;1.91;1.91;1.91;1.92;1.92	4.96	4.96	0.65561	.	0.000000	0.42821	D	0.000654	T	0.44705	0.1306	L	0.41079	1.255	0.80722	D	1	D;D;D;P	0.89917	0.999;0.999;1.0;0.774	D;D;D;B	0.97110	0.939;0.939;1.0;0.051	T	0.39941	-0.9589	10	0.66056	D	0.02	-27.938	18.5732	0.91144	0.0:1.0:0.0:0.0	.	423;423;423;423	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	T	423	ENSP00000266070:A423T;ENSP00000378752:A423T;ENSP00000378749:A423T;ENSP00000378744:A423T;ENSP00000359397:A423T;ENSP00000359394:A423T;ENSP00000346692:A423T;ENSP00000359391:A423T;ENSP00000266071:A423T	ENSP00000266070:A423T	A	-	1	0	DIDO1	61009051	1.000000	0.71417	0.324000	0.25361	0.087000	0.18053	7.666000	0.83877	2.472000	0.83506	0.561000	0.74099	GCA		0.522	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		54	84	0	0	0	1	0	54	84					T	61538606	C	T	61538606	3	4	435	1	0	0	0	0	1	0	0	0	4522	768	27	1	5633	1	DIDO1	20	61538606	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10874	61538606	1486914	8741	29666											
CHRNA4	1137	broad.mit.edu	37	chr20	61982381	61982381	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgaagtccccgtcagcacTgggcaggaagagagcgaagg	11	3	16	11	4	1	1	1	0	0	1	2	5	2	2	2	3	2	2	2	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61982381T>C	ENST00000370263.4	-	5	605		c.e5-2		CHRNA4_ENST00000463705.1_Splice_Site	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)						action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			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)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CCGTCAGCACTGGGCAGGAAG	0.652																																						ENST00000370263.4																			0				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						c.e5-2		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						31	31	31					20																	61982381		2201	4300	6501	SO:0001630	splice_region_variant	1137				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	g.chr20:61982381T>C		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.384-2A>G	20.37:g.61982381T>C						CHRNA4_ENST00000463705.1_Splice_Site		NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	605	-	all_cancers(38;1.71e-10)							Q4JGR7|Q4VAQ5|Q4VAQ6	Splice_Site	SNP	ENST00000370263.4	37		CCDS13517.1	.	.	.	.	.	.	.	.	.	.	T	10.36	1.328934	0.24167	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4626	0.67462	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHRNA4	61452825	1.000000	0.71417	0.349000	0.25694	0.011000	0.07611	6.133000	0.71682	1.806000	0.52798	0.459000	0.35465	.		0.652	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3		Intron	3	11	0	0	0	1	0	3	11					C	61982381	T	C	61982381	5	2	435	1	0	0	0	0	0	0	1	0	3385	1594	55	4	1509	4	CHRNA4	20	61982381	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	443775	61982381	1043139	8742	29667											
PTK6	5753	broad.mit.edu	37	chr20	62163964	62163964	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggacaccacggcgtacagCgccaggatgtgtttgtgccg	8	7	14	12	5	0	0	0	0	0	0	0	2	0	2	3	3	3	2	3	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:62163964C>T	ENST00000217185.2	-	5	774	c.747G>A	c.(745-747)gcG>gcA	p.A249A	PTK6_ENST00000542869.1_Silent_p.A148A	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	CGGCGTACAGCGCCAGGATGT	0.652																																						ENST00000217185.2																			0				endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(745-747)gcG>gcA		protein tyrosine kinase 6							118	95	103					20																	62163964		2203	4300	6503	SO:0001819	synonymous_variant	5753					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62163964C>T	U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"SH2 domain containing"	9617	protein-coding gene	gene with protein product		602004	"PTK6 protein tyrosine kinase 6"			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.747G>A	20.37:g.62163964C>T						PTK6_ENST00000542869.1_Silent_p.A148A	p.A249A	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		5	774	-	all_cancers(38;2.51e-11)		249			Protein kinase.		B2RCR3|B4DW46|Q58F01	Silent	SNP	ENST00000217185.2	37	c.747G>A	CCDS13524.1																																																																																				0.652	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1			19	26	0	0	0	1	0	19	26					T	62163964	C	T	62163964	2	4	435	1	0	0	0	0	0	0	0	1	12764	755	27	1		1	PTK6	20	62163964	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	181583	62163964	861556	8743	29668											
SRMS	6725	broad.mit.edu	37	chr20	62172602	62172602	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggacgccgaaggaccaGacgtctgacttctgggagaa	12	5	14	10	3	2	3	0	1	2	2	2	7	2	5	2	3	1	1	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:62172602G>T	ENST00000217188.1	-	7	1267	c.1227C>A	c.(1225-1227)gtC>gtA	p.V409V		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	409	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGAAGGACCAGACGTCTGACT	0.607																																						ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(1225-1227)gtC>gtA		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							98	103	101					20																	62172602		2203	4300	6503	SO:0001819	synonymous_variant	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62172602G>T		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1227C>A	20.37:g.62172602G>T							p.V409V	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		7	1267	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		409			Protein kinase.			Silent	SNP	ENST00000217188.1	37	c.1227C>A	CCDS13525.1																																																																																				0.607	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		31	52	1	0	3.99451e-17	1	4.39387e-17	31	52					T	62172602	G	T	62172602	2	4	435	1	0	0	0	0	0	0	0	1	15151	929	33	5		5	SRMS	20	62172602	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8638	62172602	852918	8744	29669											
SRMS	6725	broad.mit.edu	37	chr20	62173545	62173545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcctgcaggttccccttgCgcatgagttccgtgacgatg	6	10	13	12	3	0	2	0	2	0	0	2	3	2	2	4	2	2	4	4	2	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:62173545C>T	ENST00000217188.1	-	5	957	c.917G>A	c.(916-918)cGc>cAc	p.R306H		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GTTCCCCTTGCGCATGAGTTC	0.682																																						ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(916-918)cGc>cAc		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							94	74	81					20																	62173545		2200	4300	6500	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62173545C>T		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.917G>A	20.37:g.62173545C>T	ENSP00000217188:p.Arg306His						p.R306H	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		5	957	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		306			Protein kinase.			Missense_Mutation	SNP	ENST00000217188.1	37	c.917G>A	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577223	0.45902	.	.	ENSG00000125508	ENST00000217188	T	0.11495	2.77	4.62	3.67	0.42095	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.356310	0.22531	N	0.058851	T	0.12135	0.0295	N	0.20685	0.6	0.22050	N	0.999394	D	0.58620	0.983	P	0.54706	0.759	T	0.06899	-1.0801	10	0.52906	T	0.07	.	8.2596	0.31777	0.0:0.7576:0.1567:0.0857	.	306	Q9H3Y6	SRMS_HUMAN	H	306	ENSP00000217188:R306H	ENSP00000217188:R306H	R	-	2	0	SRMS	61643989	0.923000	0.31300	0.991000	0.47740	0.120000	0.20174	1.564000	0.36375	0.942000	0.37525	-0.258000	0.10820	CGC		0.682	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		6	22	0	0	0	1	0	6	22					T	62173545	C	T	62173545	3	4	435	1	0	0	0	0	1	0	0	0	15151	768	27	1	565	1	SRMS	20	62173545	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	943	62173545	851975	8745	29670											
PRIC285	85441	broad.mit.edu	37	chr20	62195572	62195572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggaactcagccacgaGcctattaaactgaatcatgt	14	8	7	12	1	2	1	2	1	0	0	2	3	2	2	3	1	4	0	3	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:62195572G>T	ENST00000467148.1	-	8	4672	c.4603C>A	c.(4603-4605)Ctc>Atc	p.L1535I	HELZ2_ENST00000427522.2_Missense_Mutation_p.L966I	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1535					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCAGCCACGAGCCTATTAAAC	0.642																																						ENST00000467148.1																			0											c.(4603-4605)Ctc>Atc		helicase with zinc finger 2, transcriptional coactivator							36	24	28					20																	62195572		2192	4296	6488	SO:0001583	missense	85441							g.chr20:62195572G>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4603C>A	20.37:g.62195572G>T	ENSP00000417401:p.Leu1535Ile					HELZ2_ENST00000427522.2_Missense_Mutation_p.L966I	p.L1535I	NM_001037335.2	NP_001032412.2					8	4672	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.4603C>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	2.792	-0.251042	0.05867	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.38722	1.12;1.12	4.63	2.04	0.26737	Ribonuclease II/R (2);	1.490130	0.03939	N	0.286614	T	0.37489	0.1005	L	0.60957	1.885	0.09310	N	1	B;B	0.27679	0.185;0.154	B;B	0.28465	0.09;0.04	T	0.15954	-1.0419	10	0.22706	T	0.39	-2.0057	2.235	0.04006	0.4703:0.0:0.238:0.2917	.	1535;966	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	I	966;1535	ENSP00000393257:L966I;ENSP00000417401:L1535I	ENSP00000393257:L966I	L	-	1	0	RP4-697K14.7	61666016	0.090000	0.21635	0.141000	0.22245	0.009000	0.06853	1.077000	0.30741	0.346000	0.23899	0.491000	0.48974	CTC		0.642	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		6	13	1	0	3.59834e-05	1	3.7043e-05	6	13					T	62195572	G	T	62195572	3	4	435	1	0	0	0	0	1	0	0	0	12485	971	34	5	3394	5	PRIC285	20	62195572	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22027	62195572	829948	8746	29671											
STMN3	50861	broad.mit.edu	37	chr20	62272715	62272715	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgacatctcttctcgctgCtccttgttcctgcgcacctc	3	13	6	19	3	2	0	0	0	2	0	7	1	4	0	4	0	2	4	4	0	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:62272715C>T	ENST00000370053.1	-	5	600	c.519G>A	c.(517-519)gaG>gaA	p.E173E	STMN3_ENST00000540534.1_Silent_p.E162E	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	173	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			CTTCTCGCTGCTCCTTGTTCC	0.667																																						ENST00000370053.1																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8						c.(517-519)gaG>gaA		stathmin-like 3							17	17	17					20																	62272715		2166	4247	6413	SO:0001819	synonymous_variant	50861				cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding	g.chr20:62272715C>T	AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.519G>A	20.37:g.62272715C>T						STMN3_ENST00000540534.1_Silent_p.E162E	p.E173E	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)		5	600	-	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		173					B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Silent	SNP	ENST00000370053.1	37	c.519G>A	CCDS13529.1																																																																																				0.667	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080163.1	NM_015894		4	1	0	0	0	1	0	4	1					T	62272715	C	T	62272715	2	4	435	1	0	0	0	0	0	0	0	1	15309	796	28	3		3	STMN3	20	62272715	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	77143	62272715	752805	8747	29672											
RTEL1	51750	broad.mit.edu	37	chr20	62324233	62324233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcaggagttgagccaaGccaactttgccaccttcacc	11	8	9	13	0	1	2	1	2	0	0	1	3	1	3	5	1	5	2	5	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:62324233G>T	ENST00000360203.5	+	29	3053	c.2728G>T	c.(2728-2730)Gcc>Tcc	p.A910S	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A910S|RTEL1_ENST00000370003.1_Missense_Mutation_p.A155S|RTEL1_ENST00000318100.4_Missense_Mutation_p.A910S|RTEL1_ENST00000508582.2_Missense_Mutation_p.A934S|RTEL1_ENST00000370018.3_Missense_Mutation_p.A910S					regulator of telomere elongation helicase 1											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)			GTTGAGCCAAGCCAACTTTGC	0.652																																						ENST00000318100.4																			0				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						c.(2728-2730)Gcc>Tcc		regulator of telomere elongation helicase 1							109	103	105					20																	62324233		2199	4295	6494	SO:0001583	missense	51750				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	g.chr20:62324233G>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2728G>T	20.37:g.62324233G>T	ENSP00000353332:p.Ala910Ser					RTEL1_ENST00000370003.1_Missense_Mutation_p.A155S|RTEL1_ENST00000360203.5_Missense_Mutation_p.A910S|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A910S|RTEL1_ENST00000370018.3_Missense_Mutation_p.A910S|RTEL1_ENST00000508582.2_Missense_Mutation_p.A934S	p.A910S			Q9NZ71	RTEL1_HUMAN	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)		29	3555	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		910						Missense_Mutation	SNP	ENST00000360203.5	37	c.2728G>T		.	.	.	.	.	.	.	.	.	.	G	10.89	1.478612	0.26511	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	4.59	3.64	0.41730	.	0.524574	0.20064	N	0.100007	T	0.22936	0.0554	M	0.64997	1.995	0.28070	N	0.932611	P;D;B;P	0.89917	0.887;1.0;0.155;0.876	P;D;B;P	0.87578	0.604;0.998;0.109;0.62	T	0.06250	-1.0837	10	0.11485	T	0.65	-16.2369	8.1448	0.31104	0.0909:0.1603:0.7488:0.0	.	934;155;910;910	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	S	910;910;934;910;155	ENSP00000359035:A910S;ENSP00000322287:A910S;ENSP00000424307:A934S;ENSP00000353332:A910S;ENSP00000359020:A155S	ENSP00000353332:A910S	A	+	1	0	AL353715.1	61794677	0.954000	0.32549	0.998000	0.56505	0.171000	0.22731	1.454000	0.35178	1.063000	0.40649	0.442000	0.29010	GCC		0.652	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		25	46	1	0	3.01185e-09	1	3.19065e-09	25	46					T	62324233	G	T	62324233	3	4	435	1	0	0	0	0	1	0	0	0	13720	971	34	5	2838	5	RTEL1	20	62324233	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	51518	62324233	701287	8748	29673											
OPRL1	4987	broad.mit.edu	37	chr20	62730088	62730088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtgtctgaccgcgtgcGcagcattgccaaggacgtgg	7	7	16	11	4	1	1	0	1	1	0	1	2	1	2	2	3	3	3	2	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:62730088G>A	ENST00000349451.3	+	6	1461	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	OPRL1_ENST00000336866.2_Missense_Mutation_p.R350H|OPRL1_ENST00000355631.4_Missense_Mutation_p.R350H	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	350					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GACCGCGTGCGCAGCATTGCC	0.642																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(1048-1050)cGc>cAc		opiate receptor-like 1							65	58	60					20																	62730088		2201	4298	6499	SO:0001583	missense	4987				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	g.chr20:62730088G>A		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"GPCR / Class A : Opioid receptors"	8155	protein-coding gene	gene with protein product	"LC132 receptor-like", "orphanin FQ receptor", "kappa3-related opioid receptor"	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.1049G>A	20.37:g.62730088G>A	ENSP00000336764:p.Arg350His					OPRL1_ENST00000336866.2_Missense_Mutation_p.R350H|OPRL1_ENST00000355631.4_Missense_Mutation_p.R350H	p.R350H	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			6	1461	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		350					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.1049G>A	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789401	0.90367	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.65364	-0.15;-0.15;-0.15	5.12	5.12	0.69794	.	0.120219	0.56097	D	0.000035	T	0.75421	0.3847	M	0.69523	2.12	0.58432	D	0.999997	D;D	0.64830	0.994;0.989	P;P	0.56916	0.809;0.649	T	0.79045	-0.1964	10	0.72032	D	0.01	.	18.5716	0.91137	0.0:0.0:1.0:0.0	.	345;350	P41146-2;P41146	.;OPRX_HUMAN	H	350	ENSP00000336843:R350H;ENSP00000347848:R350H;ENSP00000336764:R350H	ENSP00000336843:R350H	R	+	2	0	OPRL1	62200532	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	6.489000	0.73641	2.381000	0.81170	0.550000	0.68814	CGC		0.642	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		10	23	0	0	0	1	0	10	23					A	62730088	G	A	62730088	3	1	435	1	0	0	0	0	1	0	0	0	10886	1087	38	1	1059	1	OPRL1	20	62730088	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	405855	62730088	295432	8749	29674											
NPBWR2	2832	broad.mit.edu	37	chr20	62737666	62737666	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaccaggaccgtgacGcccagccagacacacaggct	12	2	12	15	2	0	3	0	1	0	2	0	4	0	4	4	3	2	2	4	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:62737666G>A	ENST00000369768.1	-	1	858	c.519C>T	c.(517-519)ggC>ggT	p.G173G		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	173					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GGACCGTGACGCCCAGCCAGA	0.667																																						ENST00000369768.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(517-519)ggC>ggT		neuropeptides B/W receptor 2							29	30	29					20																	62737666		2201	4293	6494	SO:0001819	synonymous_variant	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737666G>A	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"GPCR / Class A : Neuropeptide receptors : W/B"	4530	protein-coding gene	gene with protein product		600731	"G protein-coupled receptor 8"	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.519C>T	20.37:g.62737666G>A							p.G173G	NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN			1	858	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		173					Q6NWQ6|Q9H4K3	Silent	SNP	ENST00000369768.1	37	c.519C>T	CCDS13557.1																																																																																				0.667	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		11	20	0	0	0	1	0	11	20					A	62737666	G	A	62737666	2	1	435	1	0	0	0	0	0	0	0	1	10569	1074	38	1		1	NPBWR2	20	62737666	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7578	62737666	287854	8750	29675											
MYT1	4661	broad.mit.edu	37	chr20	62848581	62848581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcaggtttttggcaaacGcatgcttgccccaaagattc	9	12	9	11	1	1	1	1	0	0	1	2	1	1	1	2	2	4	5	2	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:62848581G>A	ENST00000328439.1	+	11	2157	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	MYT1_ENST00000536311.1_Missense_Mutation_p.R598H|MYT1_ENST00000360149.4_Missense_Mutation_p.R300H	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R598H(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)					TTTGGCAAACGCATGCTTGCC	0.512																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			1	Substitution - Missense(1)	p.R598H(1)	large_intestine(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						c.(1792-1794)cGc>cAc		myelin transcription factor 1							109	101	104					20																	62848581		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62848581G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1793G>A	20.37:g.62848581G>A	ENSP00000327465:p.Arg598His					MYT1_ENST00000328439.1_Missense_Mutation_p.R598H|MYT1_ENST00000360149.4_Missense_Mutation_p.R300H	p.R598H			Q01538	MYT1_HUMAN			11	2157	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		598					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.1793G>A	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244531	0.79912	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.60920	0.15;0.15;0.15	5.55	5.55	0.83447	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.71986	0.3405	L	0.48877	1.53	0.80722	D	1	D;D;D	0.89917	1.0;0.969;1.0	D;P;D	0.81914	0.985;0.786;0.995	T	0.72239	-0.4351	10	0.56958	D	0.05	-27.1996	19.5144	0.95157	0.0:0.0:1.0:0.0	.	598;598;300	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	H	300;598;598	ENSP00000353269:R300H;ENSP00000327465:R598H;ENSP00000442412:R598H	ENSP00000327465:R598H	R	+	2	0	MYT1	62319025	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.725000	0.98778	2.618000	0.88619	0.655000	0.94253	CGC		0.512	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		29	39	0	0	0	1	0	29	39					A	62848581	G	A	62848581	3	1	435	1	0	0	0	0	1	0	0	0	10106	1087	38	1	1827	1	MYT1	20	62848581	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	110915	62848581	176939	8751	29676											
TPTE	7179	broad.mit.edu	37	chr21	10933852	10933852	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggaaaatgttattacCtgtgcctcctttacagtgaa	15	12	7	7	0	0	1	0	1	0	0	1	2	1	2	3	1	3	1	3	1	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:10933852C>A	ENST00000361285.4	-	17	1356	c.1027G>T	c.(1027-1029)Gat>Tat	p.D343Y	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.D305Y|TPTE_ENST00000298232.7_Splice_Site_p.D325Y	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	343	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATGTTATTACCTGTGCCTCCT	0.323																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e16+1		transmembrane phosphatase with tensin homology							231	225	227					21																	10933852		2203	4300	6503	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10933852C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1027+1G>T	21.37:g.10933852C>A						TPTE_ENST00000361285.4_Splice_Site_p.D343_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.D305_splice	p.D325_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	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)	16	1340	-			343			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37	c.973_splice	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	11.02	1.515098	0.27123	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85629	-2.01;-2.01;-2.01	2.07	2.07	0.26955	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74313	0.3700	N	0.08118	0	0.26565	N	0.973663	B;B;P	0.40515	0.273;0.273;0.719	B;B;P	0.49477	0.04;0.04;0.612	T	0.65055	-0.6261	9	.	.	.	-10.3928	7.7201	0.28727	0.0:1.0:0.0:0.0	.	305;325;343	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Y	325;343;305	ENSP00000298232:D325Y;ENSP00000355208:D343Y;ENSP00000344441:D305Y	.	D	-	1	0	TPTE	9955723	1.000000	0.71417	0.803000	0.32268	0.006000	0.05464	5.711000	0.68400	1.470000	0.48102	0.194000	0.17425	GAT		0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Missense_Mutation	28	131	1	0	1.80694e-10	1	1.9322e-10	28	131					A	10933852	C	A	10933852	5	1	435	1	0	0	0	0	0	0	1	0	16427	695	24	5	660	5	TPTE	21	10933852	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08		10933852	37196043	8752	29677											
TPTE	7179	broad.mit.edu	37	chr21	10934954	10934954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactgcatagattgtagactCgatagtggtttcggtgtttc	8	16	11	6	2	0	2	0	0	0	2	3	3	0	2	0	2	2	4	0	2	4	7	rs532485045		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:10934954C>T	ENST00000361285.4	-	15	1168	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R242Q|TPTE_ENST00000298232.7_Missense_Mutation_p.R262Q	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	280	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R262Q(1)|p.R262L(1)|p.R280L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTGTAGACTCGATAGTGGTT	0.333													.|||	1	0.000199681	8e-04	0	5008	,	,		49948	0		0	False		,,,				2504	0					ENST00000298232.7																			3	Substitution - Missense(3)	p.R262Q(1)|p.R262L(1)|p.R280L(1)	lung(2)|large_intestine(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(784-786)cGa>cAa		transmembrane phosphatase with tensin homology							267	237	247					21																	10934954		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10934954C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.839G>A	21.37:g.10934954C>T	ENSP00000355208:p.Arg280Gln					TPTE_ENST00000361285.4_Missense_Mutation_p.R280Q|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R242Q	p.R262Q	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	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)	14	1152	-			280			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.785G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	3.250	-0.153497	0.06585	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98602	-5.02;-5.02;-5.02	2.25	-3.65	0.04502	Phosphatase tensin type (1);	0.370901	0.27739	N	0.018043	D	0.90577	0.7046	N	0.16233	0.39	0.21841	N	0.99951	B;B;P	0.35542	0.261;0.261;0.508	B;B;B	0.26416	0.019;0.019;0.069	D	0.87346	0.2334	10	0.30854	T	0.27	-0.3035	3.1876	0.06606	0.2135:0.4408:0.0:0.3456	.	242;262;280	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Q	262;280;242	ENSP00000298232:R262Q;ENSP00000355208:R280Q;ENSP00000344441:R242Q	ENSP00000298232:R262Q	R	-	2	0	TPTE	9956825	1.000000	0.71417	0.017000	0.16124	0.161000	0.22273	0.533000	0.23082	-0.865000	0.04073	0.194000	0.17425	CGA		0.333	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			20	150	0	0	0	1	0	20	150					T	10934954	C	T	10934954	3	4	435	1	0	0	0	0	1	0	0	0	16427	884	31	2	856	2	TPTE	21	10934954	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1102	10934954	37194941	8753	29678											
TPTE	7179	broad.mit.edu	37	chr21	10944758	10944758	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatggcagtatctaaaatgTtaaataagtcagaaaaatac	20	11	6	4	0	2	1	1	0	1	1	2	1	2	1	0	1	1	3	0	1	10	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:10944758T>C	ENST00000361285.4	-	11	805	c.476A>G	c.(475-477)aAc>aGc	p.N159S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.N121S|TPTE_ENST00000298232.7_Missense_Mutation_p.N141S	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	159					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N159I(1)|p.N141I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCTAAAATGTTAAATAAGTC	0.318																																						ENST00000298232.7																			2	Substitution - Missense(2)	p.N159I(1)|p.N141I(1)	lung(2)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(421-423)aAc>aGc		transmembrane phosphatase with tensin homology							118	129	125					21																	10944758		2203	4296	6499	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10944758T>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.476A>G	21.37:g.10944758T>C	ENSP00000355208:p.Asn159Ser					TPTE_ENST00000361285.4_Missense_Mutation_p.N159S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.N121S	p.N141S	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	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)	10	789	-			159					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.422A>G	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	11.92	1.783294	0.31593	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.99245	-5.62;-5.62;-5.62	2.31	2.31	0.28768	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.98826	0.9604	L	0.59967	1.855	0.47341	D	0.99939	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.76575	0.98;0.98;0.988	D	0.98290	1.0513	10	0.62326	D	0.03	-34.0326	6.5921	0.22651	0.0:0.0:0.0:1.0	.	121;141;159	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	S	141;159;121	ENSP00000298232:N141S;ENSP00000355208:N159S;ENSP00000344441:N121S	ENSP00000298232:N141S	N	-	2	0	TPTE	9966629	0.998000	0.40836	0.447000	0.26932	0.339000	0.28857	4.507000	0.60434	1.303000	0.44873	0.163000	0.16589	AAC		0.318	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			20	119	0	0	0	1	0	20	119					C	10944758	T	C	10944758	3	2	435	1	0	0	0	0	1	0	0	0	16427	1725	60	4	1235	4	TPTE	21	10944758	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	9804	10944758	37185137	8754	29679											
BAGE2	85319	broad.mit.edu	37	chr21	11058218	11058218	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggaagatgtgactgaaatCctgaaaggtgtcggctcctg	11	9	13	8	1	0	4	0	3	0	1	3	5	2	5	2	3	0	1	2	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:11058218C>A	ENST00000470054.1	-	0	429							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								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)		TGACTGAAATCCTGAAAGGTG	0.413																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							93	74	79					21																	11058218		692	1591	2283			85319							g.chr21:11058218C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058218C>A												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)	0	429	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.413	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		22	65	1	0	5.35356e-11	1	5.74024e-11	22	65					A	11058218	C	A	11058218	1	1	435	0	1	0	0	0	0	0	0	0	1292	854	30	5		5	BAGE2	21	11058218	RNA	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	113460	11058218	37071677	8755	29680											
BAGE2	85319	broad.mit.edu	37	chr21	11058296	11058296	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagcatttgatagtggCtccaaagtgcttacaaaatg	13	12	8	8	0	1	1	1	1	0	0	2	1	2	1	1	1	3	3	1	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:11058296C>T	ENST00000470054.1	-	0	351							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								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)		TTGATAGTGGCTCCAAAGTGC	0.408																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							132	98	109					21																	11058296		692	1591	2283			85319							g.chr21:11058296C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058296C>T												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)	0	351	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.408	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		11	190	0	0	0	1	0	11	190					T	11058296	C	T	11058296	1	4	435	0	1	0	0	0	0	0	0	0	1292	796	28	3		3	BAGE2	21	11058296	RNA	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	78	11058296	37071599	8756	29681											
LIPI	149998	broad.mit.edu	37	chr21	15516970	15516970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtatgtaagtgattttaaCatgagtctctggatcttgta	10	16	11	4	0	2	2	0	2	2	0	3	3	2	3	0	2	1	3	0	2	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:15516970C>T	ENST00000536861.1	-	9	1268	c.1269G>A	c.(1267-1269)atG>atA	p.M423I	AP001347.6_ENST00000428809.1_RNA|AP001347.6_ENST00000432621.1_RNA|LIPI_ENST00000344577.2_Missense_Mutation_p.M444I			Q6XZB0	LIPI_HUMAN	lipase, member I	423					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			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)		GTGATTTTAACATGAGTCTCT	0.294																																						ENST00000344577.2																			0				endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54						c.(1330-1332)atG>atA		lipase, member I							68	72	71					21																	15516970		2202	4297	6499	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15516970C>T	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.1269G>A	21.37:g.15516970C>T	ENSP00000440381:p.Met423Ile					LIPI_ENST00000536861.1_Missense_Mutation_p.M423I	p.M444I	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	9	1357	-			423		D -> E.			G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.1332G>A		.	.	.	.	.	.	.	.	.	.	C	12.28	1.890701	0.33348	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.87491	-2.26;-2.24	5.34	2.49	0.30216	.	0.235404	0.24559	U	0.037485	T	0.79805	0.4509	L	0.44542	1.39	0.09310	N	1	B	0.28605	0.217	B	0.28139	0.086	T	0.67019	-0.5776	10	0.33940	T	0.23	.	7.9175	0.29827	0.0:0.7232:0.0:0.2767	.	444	Q6XZB0-2	.	I	444;423	ENSP00000343331:M444I;ENSP00000440381:M423I	ENSP00000343331:M444I	M	-	3	0	LIPI	14438841	0.998000	0.40836	0.707000	0.30419	0.973000	0.67179	1.204000	0.32296	0.739000	0.32628	0.650000	0.86243	ATG		0.294	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		27	14	0	0	0	1	0	27	14					T	15516970	C	T	15516970	3	4	435	1	0	0	0	0	1	0	0	0	8825	478	17	3	121	3	LIPI	21	15516970	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4458674	15516970	32612925	8757	29682											
HSPA13	6782	broad.mit.edu	37	chr21	15746111	15746111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactcttgaatgacttgacGgatccgaggaatacgagtgg	12	9	13	7	3	1	3	0	3	1	0	2	8	2	5	1	3	2	0	1	3	4	3	rs200646454		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:15746111G>A	ENST00000285667.3	-	5	1310	c.1243C>T	c.(1243-1245)Cgt>Tgt	p.R415C	HSPA13_ENST00000544452.1_Missense_Mutation_p.R207C	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	415						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ATGACTTGACGGATCCGAGGA	0.478													G|||	1	0.000199681	0	0	5008	,	,		17656	0		0.001	False		,,,				2504	0					ENST00000285667.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1243-1245)Cgt>Tgt		heat shock protein 70kDa family, member 13							110	113	112					21																	15746111		2203	4300	6503	SO:0001583	missense	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15746111G>A		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"Heat shock proteins / HSP70"	11375	protein-coding gene	gene with protein product		601100	"stress 70 protein chaperone, microsome-associated, 60kD", "stress 70 protein chaperone, microsome-associated, 60kDa"	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.1243C>T	21.37:g.15746111G>A	ENSP00000285667:p.Arg415Cys					HSPA13_ENST00000544452.1_Missense_Mutation_p.R207C	p.R415C	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN			5	1310	-			415					B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	c.1243C>T	CCDS13567.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.2	4.106115	0.77096	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.01092	5.35;5.35	5.65	5.65	0.86999	Heat shock protein 70, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.11537	0.0281	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.00579	-1.1661	10	0.87932	D	0	-4.2409	20.1	0.97870	0.0:0.0:1.0:0.0	.	415	P48723	HSP13_HUMAN	C	415;207	ENSP00000285667:R415C;ENSP00000441986:R207C	ENSP00000285667:R415C	R	-	1	0	HSPA13	14667982	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.229000	0.72294	2.829000	0.97493	0.655000	0.94253	CGT		0.478	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			31	18	0	0	0	1	0	31	18					A	15746111	G	A	15746111	3	1	435	1	0	0	0	0	1	0	0	0	7406	1116	39	2	176	2	HSPA13	21	15746111	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	229141	15746111	32383784	8758	29683											
NRIP1	8204	broad.mit.edu	37	chr21	16339101	16339101	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acatctgggacttttggatcCcaagtgtttagcaaggattg	10	13	11	7	0	1	0	0	0	1	0	2	3	2	3	1	3	1	2	1	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:16339101C>T	ENST00000400202.1	-	3	2125	c.1413G>A	c.(1411-1413)tgG>tgA	p.W471*	NRIP1_ENST00000318948.4_Nonsense_Mutation_p.W471*|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.W471*|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	471	Repression domain 2.|Required for targeting to small nuclear foci.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			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)		CTTTTGGATCCCAAGTGTTTA	0.393																																						ENST00000400202.1																			0				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						c.(1411-1413)tgG>tgA		nuclear receptor interacting protein 1							135	131	132					21																	16339101		2203	4300	6503	SO:0001587	stop_gained	8204				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	g.chr21:16339101C>T	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1413G>A	21.37:g.16339101C>T	ENSP00000383063:p.Trp471*					NRIP1_ENST00000400199.1_Nonsense_Mutation_p.W471*|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.W471*	p.W471*			P48552	NRIP1_HUMAN		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)	3	2125	-			471			Repression domain 2.|Required for targeting to small nuclear foci.		Q8IWE8	Nonsense_Mutation	SNP	ENST00000400202.1	37	c.1413G>A	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	C	43	10.385200	0.99395	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4934	20.1669	0.98153	0.0:1.0:0.0:0.0	.	.	.	.	X	471	.	ENSP00000327213:W471X	W	-	3	0	NRIP1	15260972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.398000	0.79919	2.770000	0.95276	0.650000	0.86243	TGG		0.393	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		18	36	0	0	0	1	0	18	36					T	16339101	C	T	16339101	4	4	435	1	0	0	0	0	0	1	0	0	10652	624	22	3	2067	3	NRIP1	21	16339101	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	592990	16339101	31790794	8759	29684											
NRIP1	8204	broad.mit.edu	37	chr21	16339794	16339794	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accatgcttgcaacagcctgTaatcttgcagcacatgacaa	13	9	7	12	0	1	1	0	1	1	0	1	1	1	1	2	0	6	5	2	0	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:16339794T>C	ENST00000400202.1	-	3	1432	c.720A>G	c.(718-720)ttA>ttG	p.L240L	NRIP1_ENST00000318948.4_Silent_p.L240L|NRIP1_ENST00000400199.1_Silent_p.L240L			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	240	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			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)		CAACAGCCTGTAATCTTGCAG	0.458																																						ENST00000400202.1																			0				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						c.(718-720)ttA>ttG		nuclear receptor interacting protein 1							202	173	183					21																	16339794		2203	4300	6503	SO:0001819	synonymous_variant	8204				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	g.chr21:16339794T>C	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.720A>G	21.37:g.16339794T>C						NRIP1_ENST00000400199.1_Silent_p.L240L|NRIP1_ENST00000318948.4_Silent_p.L240L	p.L240L			P48552	NRIP1_HUMAN		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)	3	1432	-			240			Repression domain 1.		Q8IWE8	Silent	SNP	ENST00000400202.1	37	c.720A>G	CCDS13568.1																																																																																				0.458	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		62	22	0	0	0	1	0	62	22					C	16339794	T	C	16339794	2	2	435	1	0	0	0	0	0	0	0	1	10652	1635	57	4		4	NRIP1	21	16339794	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	693	16339794	31790101	8760	29685											
BTG3	10950	broad.mit.edu	37	chr21	18966550	18966550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataaccaaatggaacaggaGgaggatagtgattctgatgg	15	8	14	4	0	1	2	0	2	1	0	1	7	1	6	1	5	2	0	1	5	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:18966550G>T	ENST00000348354.6	-	5	876	c.620C>A	c.(619-621)cCt>cAt	p.P207H	BTG3_ENST00000339775.6_Missense_Mutation_p.P251H	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	207					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TGGAACAGGAGGAGGATAGTG	0.448																																						ENST00000339775.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8						c.(751-753)cCt>cAt		BTG family, member 3							144	127	133					21																	18966550		2203	4299	6502	SO:0001583	missense	10950				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm		g.chr21:18966550G>T	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.620C>A	21.37:g.18966550G>T	ENSP00000284879:p.Pro207His					BTG3_ENST00000348354.6_Missense_Mutation_p.P207H	p.P251H	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN		Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)	6	905	-			207					D3DSC4|Q53XV1|Q96ET7	Missense_Mutation	SNP	ENST00000348354.6	37	c.752C>A	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	G	7.671	0.687070	0.14973	.	.	ENSG00000154640	ENST00000339775;ENST00000348354	.	.	.	4.27	4.27	0.50696	.	0.250491	0.31909	N	0.006863	T	0.48021	0.1477	L	0.29908	0.895	0.27301	N	0.95758	D;D	0.89917	1.0;0.998	D;D	0.77557	0.971;0.99	T	0.28106	-1.0054	9	0.22706	T	0.39	-8.4952	12.4973	0.55935	0.0:0.0:1.0:0.0	.	251;207	Q14201-2;Q14201	.;BTG3_HUMAN	H	251;207	.	ENSP00000344609:P251H	P	-	2	0	BTG3	17888421	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.169000	0.58223	2.668000	0.90789	0.591000	0.81541	CCT		0.448	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806		12	25	1	0	0.000219431	1	0.000224427	12	25					T	18966550	G	T	18966550	3	4	435	1	0	0	0	0	1	0	0	0	1555	1000	35	5	142	5	BTG3	21	18966550	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2626756	18966550	29163345	8761	29686											
MRPL39	54148	broad.mit.edu	37	chr21	26961154	26961154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaacacttaccattttcCgagatctttccaatagctta	14	13	3	11	1	1	1	0	0	1	1	3	2	3	1	3	0	3	1	3	0	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:26961154C>T	ENST00000352957.4	-	9	1003	c.962G>A	c.(961-963)cGg>cAg	p.R321Q	MRPL39_ENST00000307301.7_Missense_Mutation_p.R321Q	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	321						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TACCATTTTCCGAGATCTTTC	0.323																																						ENST00000307301.7																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						c.(961-963)cGg>cAg		mitochondrial ribosomal protein L39							124	134	130					21																	26961154		2203	4298	6501	SO:0001583	missense	54148					mitochondrial ribosome	nucleotide binding	g.chr21:26961154C>T	AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"Mitochondrial ribosomal proteins / large subunits"	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.962G>A	21.37:g.26961154C>T	ENSP00000284967:p.Arg321Gln					MRPL39_ENST00000352957.4_Missense_Mutation_p.R321Q	p.R321Q	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN			9	1003	-			321					C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Missense_Mutation	SNP	ENST00000352957.4	37	c.962G>A	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189335	0.38707	.	.	ENSG00000154719	ENST00000352957;ENST00000307301	T;T	0.46063	0.91;0.88	5.04	5.04	0.67666	.	0.410282	0.27012	N	0.021378	T	0.26195	0.0639	N	0.16130	0.375	0.32566	N	0.530474	B;B	0.28378	0.085;0.209	B;B	0.28553	0.031;0.091	T	0.28490	-1.0042	10	0.38643	T	0.18	-6.4834	11.1412	0.48404	0.0:0.9139:0.0:0.0861	.	321;321	Q9NYK5;Q9NYK5-2	RM39_HUMAN;.	Q	321	ENSP00000284967:R321Q;ENSP00000305682:R321Q	ENSP00000305682:R321Q	R	-	2	0	MRPL39	25883025	0.972000	0.33761	1.000000	0.80357	0.999000	0.98932	-0.092000	0.11129	2.779000	0.95612	0.655000	0.94253	CGG		0.323	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446		44	22	0	0	0	1	0	44	22					T	26961154	C	T	26961154	3	4	435	1	0	0	0	0	1	0	0	0	9802	652	23	2	155	2	MRPL39	21	26961154	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7994604	26961154	21168741	8762	29687											
ADAMTS1	9510	broad.mit.edu	37	chr21	28209961	28209961	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtttctttaaaggatcacaGctctcatgagataacacccc	12	11	7	11	0	3	1	2	1	2	1	4	3	3	2	2	2	2	2	2	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:28209961G>A	ENST00000284984.3	-	9	3295	c.2841C>T	c.(2839-2841)agC>agT	p.S947S		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	947	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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)		AAGGATCACAGCTCTCATGAG	0.428																																						ENST00000284984.2																			0				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						c.(2839-2841)agC>agT		ADAM metallopeptidase with thrombospondin type 1 motif, 1							120	119	120					21																	28209961		2203	4300	6503	SO:0001819	synonymous_variant	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28209961G>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2841C>T	21.37:g.28209961G>A							p.S947S	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	9	3295	-		Breast(209;0.000962)	947			TSP type-1 3.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	ENST00000284984.3	37	c.2841C>T	CCDS33524.1																																																																																				0.428	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			37	9	0	0	0	1	0	37	9					A	28209961	G	A	28209961	2	1	435	1	0	0	0	0	0	0	0	1	255	962	34	3		3	ADAMTS1	21	28209961	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1248807	28209961	19919934	8763	29688											
ADAMTS1	9510	broad.mit.edu	37	chr21	28214308	28214308	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgggacccacacaagTcctacaaaaagcaaaggtaa	17	6	8	10	0	1	0	0	0	1	0	2	1	2	1	2	2	2	2	2	2	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:28214308T>C	ENST00000284984.3	-	3	1533	c.1079A>G	c.(1078-1080)gAc>gGc	p.D360G		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	360	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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)		CCCACACAAGTCCTACAAAAA	0.448																																						ENST00000284984.2																			0				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						c.e3-1		ADAM metallopeptidase with thrombospondin type 1 motif, 1							69	62	64					21																	28214308		2203	4300	6503	SO:0001630	splice_region_variant	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28214308T>C	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1078-1A>G	21.37:g.28214308T>C							p.D360_splice	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	3	1533	-		Breast(209;0.000962)	360			Peptidase M12B.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Splice_Site	SNP	ENST00000284984.3	37	c.1077_splice	CCDS33524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.89|17.89	3.500789|3.500789	0.64298|0.64298	.|.	.|.	ENSG00000154734|ENSG00000154734	ENST00000284984;ENST00000517777;ENST00000517452|ENST00000451462	D;D;D|.	0.89875|.	-2.58;-2.58;-2.58|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);|.	.|.	.|.	.|.	.|.	T|T	0.77294|0.77294	0.4109|0.4109	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	P|.	0.38473|.	0.633|.	P|.	0.49683|.	0.619|.	T|T	0.78568|0.78568	-0.2154|-0.2154	9|5	0.87932|.	D|.	0|.	.|.	15.8615|15.8615	0.79026|0.79026	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	360|.	Q9UHI8|.	ATS1_HUMAN|.	G|A	360;98;122|142	ENSP00000284984:D360G;ENSP00000429557:D98G;ENSP00000431065:D122G|.	ENSP00000284984:D360G|.	D|T	-|-	2|1	0|0	ADAMTS1|ADAMTS1	27136179|27136179	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.779000|0.779000	0.44077|0.44077	7.868000|7.868000	0.87116|0.87116	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	GAC|ACT		0.448	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2		Missense_Mutation	21	7	0	0	0	1	0	21	7					C	28214308	T	C	28214308	5	2	435	1	0	0	0	0	0	0	1	0	255	1681	58	4	1852	4	ADAMTS1	21	28214308	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	4347	28214308	19915587	8764	29689											
RNF160	26046	broad.mit.edu	37	chr21	30308907	30308907	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggtccttatttgggaccTcaactgctgtctctgcatag	7	14	10	10	0	2	0	1	0	1	0	4	1	3	1	2	2	3	2	2	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:30308907T>C	ENST00000361371.5	-	26	4674	c.4595A>G	c.(4594-4596)gAg>gGg	p.E1532G	LTN1_ENST00000389194.2_Missense_Mutation_p.E1578G			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1532					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATTTGGGACCTCAACTGCTGT	0.393																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(4594-4596)gAg>gGg		listerin E3 ubiquitin protein ligase 1							236	240	239					21																	30308907		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30308907T>C	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4595A>G	21.37:g.30308907T>C	ENSP00000354977:p.Glu1532Gly					LTN1_ENST00000389194.2_Missense_Mutation_p.E1578G	p.E1532G	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			26	4745	-			1532					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.4595A>G		.	.	.	.	.	.	.	.	.	.	T	12.85	2.060763	0.36373	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.20069	2.1;2.1	5.22	5.22	0.72569	.	0.151249	0.64402	D	0.000017	T	0.09686	0.0238	N	0.03608	-0.345	0.51233	D	0.999918	P	0.49090	0.919	B	0.37550	0.253	T	0.23762	-1.0179	10	0.36615	T	0.2	.	15.2663	0.73663	0.0:0.0:0.0:1.0	.	1532	O94822	LTN1_HUMAN	G	1578;1532	ENSP00000373846:E1578G;ENSP00000354977:E1532G	ENSP00000354977:E1532G	E	-	2	0	LTN1	29230778	1.000000	0.71417	0.392000	0.26245	0.363000	0.29612	4.920000	0.63390	2.183000	0.69458	0.533000	0.62120	GAG		0.393	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		73	38	0	0	0	1	0	73	38					C	30308907	T	C	30308907	3	2	435	1	0	0	0	0	1	0	0	0	13455	1551	54	4	725	4	RNF160	21	30308907	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	2094599	30308907	17820988	8765	29690											
USP16	10600	broad.mit.edu	37	chr21	30415788	30415788	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatctgaaaaagacagtGgaggatgaagatcaagatag	21	6	11	3	0	2	5	1	2	1	3	2	7	2	7	0	2	0	0	0	2	7	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:30415788G>T	ENST00000334352.4	+	14	1455	c.1224G>T	c.(1222-1224)gtG>gtT	p.V408V	USP16_ENST00000399976.2_Silent_p.V408V|USP16_ENST00000399975.3_Silent_p.V407V|USP16_ENST00000535828.1_Silent_p.V37V	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AAAAGACAGTGGAGGATGAAG	0.308																																					Melanoma(92;625 1444 27493 34101 44971)	ENST00000334352.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						c.(1222-1224)gtG>gtT		ubiquitin specific peptidase 16							78	71	73					21																	30415788		2203	4300	6503	SO:0001819	synonymous_variant	0				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	g.chr21:30415788G>T	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"Ubiquitin-specific peptidases"	12614	protein-coding gene	gene with protein product		604735	"ubiquitin specific protease 16"			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.1224G>T	21.37:g.30415788G>T						USP16_ENST00000535828.1_Silent_p.V37V|USP16_ENST00000399975.3_Silent_p.V407V|USP16_ENST00000399976.2_Silent_p.V408V	p.V408V	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN			14	1455	+			408						Silent	SNP	ENST00000334352.4	37	c.1224G>T	CCDS13583.1																																																																																				0.308	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			15	10	1	0	0.000422831	1	0.000430994	15	10					T	30415788	G	T	30415788	2	4	435	1	0	0	0	0	0	0	0	1	17044	1335	47	5		5	USP16	21	30415788	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	106881	30415788	17714107	8766	29691											
GRIK1	2897	broad.mit.edu	37	chr21	30927538	30927538	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcggggcagccattcccacgCcaccacttctctttcatcat	7	11	6	17	2	3	0	2	0	1	0	6	0	4	0	4	2	1	1	4	2	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:30927538C>T	ENST00000399907.1	-	16	2853	c.2442G>A	c.(2440-2442)tgG>tgA	p.W814*	GRIK1_ENST00000389125.3_Nonsense_Mutation_p.W799*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.W814*|GRIK1_ENST00000399914.1_Nonsense_Mutation_p.W799*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.W814*|GRIK1_ENST00000309434.7_Nonsense_Mutation_p.W816*|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.W799*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.W814*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.W816*	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	814					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CATTCCCACGCCACCACTTCT	0.483																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(2395-2397)tgG>tgA		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						96	98	98					21																	30927538		2203	4299	6502	SO:0001587	stop_gained	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30927538C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2442G>A	21.37:g.30927538C>T	ENSP00000382791:p.Trp814*					GRIK1_ENST00000389125.3_Nonsense_Mutation_p.W799*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.W814*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.W816*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.W814*|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.W799*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.W814*|GRIK1_ENST00000309434.7_Nonsense_Mutation_p.W816*|GRIK1_ENST00000399907.1_Nonsense_Mutation_p.W814*	p.W799*			P39086	GRIK1_HUMAN			15	2918	-			814					Q13001|Q86SU9	Nonsense_Mutation	SNP	ENST00000399907.1	37	c.2397G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	38	6.910232	0.97928	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	.	.	.	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6293	0.88102	0.0:1.0:0.0:0.0	.	.	.	.	X	814;799;814;799;816;675;814;814;799;816	.	ENSP00000311646:W816X	W	-	3	0	GRIK1	29849409	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.582000	0.82546	2.549000	0.85964	0.650000	0.86243	TGG		0.483	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			30	19	0	0	0	1	0	30	19					T	30927538	C	T	30927538	4	4	435	1	0	0	0	0	0	1	0	0	6773	740	26	3	482	3	GRIK1	21	30927538	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	511750	30927538	17202357	8767	29692											
GRIK1	2897	broad.mit.edu	37	chr21	30959709	30959709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaatcacaaagagtacacaGctgactcccaagcaggctaa	16	5	8	12	0	1	2	1	1	0	1	2	2	2	2	1	1	3	5	1	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:30959709G>T	ENST00000399907.1	-	12	2181	c.1770C>A	c.(1768-1770)agC>agA	p.S590R	GRIK1_ENST00000389125.3_Missense_Mutation_p.S575R|GRIK1_ENST00000327783.4_Missense_Mutation_p.S590R|GRIK1_ENST00000399914.1_Missense_Mutation_p.S575R|GRIK1_ENST00000399913.1_Missense_Mutation_p.S590R|GRIK1_ENST00000309434.7_Missense_Mutation_p.S592R|GRIK1_ENST00000399909.1_Missense_Mutation_p.S575R|GRIK1_ENST00000389124.2_Missense_Mutation_p.S590R|GRIK1_ENST00000535441.1_Missense_Mutation_p.S592R	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	590					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	AGAGTACACAGCTGACTCCCA	0.468																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(1723-1725)agC>agA		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						66	55	59					21																	30959709		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30959709G>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1770C>A	21.37:g.30959709G>T	ENSP00000382791:p.Ser590Arg					GRIK1_ENST00000389125.3_Missense_Mutation_p.S575R|GRIK1_ENST00000399913.1_Missense_Mutation_p.S590R|GRIK1_ENST00000535441.1_Missense_Mutation_p.S592R|GRIK1_ENST00000327783.4_Missense_Mutation_p.S590R|GRIK1_ENST00000399909.1_Missense_Mutation_p.S575R|GRIK1_ENST00000389124.2_Missense_Mutation_p.S590R|GRIK1_ENST00000309434.7_Missense_Mutation_p.S592R|GRIK1_ENST00000399907.1_Missense_Mutation_p.S590R	p.S575R			P39086	GRIK1_HUMAN			11	2246	-			590					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.1725C>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656332	0.67586	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.09	-5.54	0.02544	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.80628	0.4659	H	0.97587	4.035	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.84802	0.0785	10	0.87932	D	0	.	14.7596	0.69596	0.478:0.0:0.522:0.0	.	575;590;575;590;575	E7EPY9;E9PD61;E7EPZ0;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	R	590;575;590;575;592;451;590;590;575;592	ENSP00000327687:S590R;ENSP00000373777:S575R;ENSP00000382797:S590R;ENSP00000382798:S575R;ENSP00000446326:S592R;ENSP00000373776:S590R;ENSP00000382791:S590R;ENSP00000382793:S575R;ENSP00000311646:S592R	ENSP00000311646:S592R	S	-	3	2	GRIK1	29881580	0.977000	0.34250	0.928000	0.36995	0.994000	0.84299	0.240000	0.18042	-0.949000	0.03663	-0.238000	0.12139	AGC		0.468	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			6	8	1	0	3.59834e-05	1	3.7043e-05	6	8					T	30959709	G	T	30959709	3	4	435	1	0	0	0	0	1	0	0	0	6773	962	34	5	1170	5	GRIK1	21	30959709	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32171	30959709	17170186	8768	29693											
KRTAP13-2	337959	broad.mit.edu	37	chr21	31744251	31744251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagagacccagagtaagtcGtcttgcaaggactgcagagc	12	7	12	10	1	1	3	0	0	1	3	2	5	1	4	1	1	3	3	1	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:31744251G>A	ENST00000399889.2	-	1	306	c.281C>T	c.(280-282)aCg>aTg	p.T94M		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	94	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)		p.T94M(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						AGAGTAAGTCGTCTTGCAAGG	0.617																																						ENST00000399889.2																			1	Substitution - Missense(1)	p.T94M(1)	kidney(1)	endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						c.(280-282)aCg>aTg		keratin associated protein 13-2							62	61	62					21																	31744251		2203	4300	6503	SO:0001583	missense	337959					intermediate filament		g.chr21:31744251G>A	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"Keratin associated proteins"	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.281C>T	21.37:g.31744251G>A	ENSP00000382777:p.Thr94Met						p.T94M	NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN			1	306	-			94			5 X 10 AA approximate repeats.			Missense_Mutation	SNP	ENST00000399889.2	37	c.281C>T	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504543	0.44558	.	.	ENSG00000182816	ENST00000399889	T	0.03663	3.85	4.57	-5.79	0.02354	.	0.716625	0.11867	N	0.521762	T	0.04363	0.0120	M	0.64997	1.995	0.09310	N	1	D	0.56035	0.974	P	0.46237	0.508	T	0.02966	-1.1088	10	0.59425	D	0.04	.	1.8824	0.03231	0.3431:0.3485:0.1882:0.1202	.	94	Q52LG2	KR132_HUMAN	M	94	ENSP00000382777:T94M	ENSP00000382777:T94M	T	-	2	0	KRTAP13-2	30666122	0.000000	0.05858	0.000000	0.03702	0.908000	0.53690	-0.412000	0.07132	-1.134000	0.02899	0.655000	0.94253	ACG		0.617	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			3	12	0	0	0	1	0	3	12					A	31744251	G	A	31744251	3	1	435	1	0	0	0	0	1	0	0	0	8523	1145	40	1	250	1	KRTAP13-2	21	31744251	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	784542	31744251	16385644	8769	29694											
KRTAP19-3	337970	broad.mit.edu	37	chr21	31864120	31864120	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccagagccatatccataGcctccaaagccagagccata	15	5	7	14	0	0	2	0	0	0	2	2	2	2	2	7	0	5	0	7	0	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:31864120G>A	ENST00000334063.4	-	1	155	c.156C>T	c.(154-156)ggC>ggT	p.G52G		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	52						intermediate filament (GO:0005882)				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						CATATCCATAGCCTCCAAAGC	0.542																																						ENST00000334063.4																			0				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						c.(154-156)ggC>ggT		keratin associated protein 19-3							191	196	194					21																	31864120		2203	4300	6503	SO:0001819	synonymous_variant	337970					intermediate filament		g.chr21:31864120G>A	AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"Keratin associated proteins"	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.156C>T	21.37:g.31864120G>A							p.G52G	NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN			1	155	-			52						Silent	SNP	ENST00000334063.4	37	c.156C>T	CCDS13596.1																																																																																				0.542	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2			80	36	0	0	0	1	0	80	36					A	31864120	G	A	31864120	2	1	435	1	0	0	0	0	0	0	0	1	8530	958	34	3		3	KRTAP19-3	21	31864120	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	119869	31864120	16265775	8770	29695											
KRTAP19-7	337974	broad.mit.edu	37	chr21	31933435	31933435	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attcaatagaatccagaagaCcagtatcccccatagcatga	16	8	6	11	0	1	4	1	1	0	3	3	4	3	4	4	0	1	2	4	0	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:31933435C>T	ENST00000334849.2	-	1	198	c.174G>A	c.(172-174)tgG>tgA	p.W58*		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	58						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						ATCCAGAAGACCAGTATCCCC	0.433																																						ENST00000334849.2																			0				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						c.(172-174)tgG>tgA		keratin associated protein 19-7							113	120	118					21																	31933435		2203	4300	6503	SO:0001587	stop_gained	337974					intermediate filament		g.chr21:31933435C>T	AP001708	CCDS13599.1	21q22.1	2006-03-13			ENSG00000244362	ENSG00000244362		"Keratin associated proteins"	18942	protein-coding gene	gene with protein product						12359730	Standard	NM_181614		Approved	KAP19.7	uc011adb.2	Q3SYF9	OTTHUMG00000057785	ENST00000334849.2:c.174G>A	21.37:g.31933435C>T	ENSP00000334696:p.Trp58*						p.W58*	NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN			1	198	-			58					Q08EP7	Nonsense_Mutation	SNP	ENST00000334849.2	37	c.174G>A	CCDS13599.1	.	.	.	.	.	.	.	.	.	.	c	15.59	2.878240	0.51801	.	.	ENSG00000244362	ENST00000334849	.	.	.	3.98	3.09	0.35607	.	0.819404	0.10366	U	0.683441	.	.	.	.	.	.	0.23314	N	0.997923	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.3464	0.32275	0.0:0.884:0.0:0.116	.	.	.	.	X	58	.	ENSP00000334696:W58X	W	-	3	0	KRTAP19-7	30855306	0.026000	0.19158	0.805000	0.32314	0.679000	0.39708	0.580000	0.23803	1.018000	0.39521	0.524000	0.50904	TGG		0.433	KRTAP19-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128237.2			23	13	0	0	0	1	0	23	13					T	31933435	C	T	31933435	4	4	435	1	0	0	0	0	0	1	0	0	8534	508	18	3	20	3	KRTAP19-7	21	31933435	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	69315	31933435	16196460	8771	29696											
KRTAP19-8	728299	broad.mit.edu	37	chr21	32410757	32410757	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccataatagcttctgtagtaGctcatggttcagcaactgta	11	13	8	9	0	3	0	2	0	1	0	3	0	3	0	1	1	4	7	1	1	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:32410757G>A	ENST00000382822.2	-	1	38	c.6C>T	c.(4-6)agC>agT	p.S2S		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	2						intermediate filament (GO:0005882)				endometrium(2)|upper_aerodigestive_tract(1)	3						TTCTGTAGTAGCTCATGGTTC	0.517																																						ENST00000382822.2																			0				endometrium(2)|upper_aerodigestive_tract(1)	3						c.(4-6)agC>agT		keratin associated protein 19-8							109	122	118					21																	32410757		2203	4300	6503	SO:0001819	synonymous_variant	728299					intermediate filament		g.chr21:32410757G>A	AB096964	CCDS42917.1	21q22.11	2007-11-23			ENSG00000206102	ENSG00000206102		"Keratin associated proteins"	33898	protein-coding gene	gene with protein product							Standard	NM_001099219		Approved		uc010glt.3	Q3LI54	OTTHUMG00000057787	ENST00000382822.2:c.6C>T	21.37:g.32410757G>A							p.S2S	NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN			1	38	-			2						Silent	SNP	ENST00000382822.2	37	c.6C>T	CCDS42917.1																																																																																				0.517	KRTAP19-8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000128239.3	NM_001099219		37	18	0	0	0	1	0	37	18					A	32410757	G	A	32410757	2	1	435	1	0	0	0	0	0	0	0	1	8535	962	34	3		3	KRTAP19-8	21	32410757	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	477322	32410757	15719138	8772	29697											
TIAM1	7074	broad.mit.edu	37	chr21	32554924	32554924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcagggcgtcagcagcacGattattgatctcaagaatct	11	11	10	9	2	4	2	3	1	2	1	5	3	4	2	0	1	2	3	0	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:32554924G>A	ENST00000286827.3	-	16	3172	c.2701C>T	c.(2701-2703)Cgt>Tgt	p.R901C	TIAM1_ENST00000541036.1_Missense_Mutation_p.R841C	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	901	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCAGCAGCACGATTATTGATC	0.488																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(2701-2703)Cgt>Tgt		T-cell lymphoma invasion and metastasis 1							78	72	74					21																	32554924		2203	4300	6503	SO:0001583	missense	7074				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	g.chr21:32554924G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2701C>T	21.37:g.32554924G>A	ENSP00000286827:p.Arg901Cys					TIAM1_ENST00000541036.1_Missense_Mutation_p.R841C	p.R901C	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			16	3172	-			901			PDZ.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.2701C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883028	0.51908	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.29142	1.58;1.58	4.42	2.43	0.29744	PDZ/DHR/GLGF (4);	0.141968	0.44902	D	0.000402	T	0.25005	0.0607	L	0.34521	1.04	0.29180	N	0.876575	P;D;D	0.53619	0.952;0.961;0.961	P;P;P	0.48627	0.448;0.584;0.584	T	0.08868	-1.0701	10	0.59425	D	0.04	.	4.8025	0.13303	0.1118:0.0:0.6032:0.285	.	841;841;901	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	C	901;742;841	ENSP00000286827:R901C;ENSP00000441570:R841C	ENSP00000286827:R901C	R	-	1	0	TIAM1	31476795	0.253000	0.23982	0.754000	0.31244	0.973000	0.67179	1.856000	0.39389	1.091000	0.41335	0.555000	0.69702	CGT		0.488	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		12	9	0	0	0	1	0	12	9					A	32554924	G	A	32554924	3	1	435	1	0	0	0	0	1	0	0	0	15887	1058	37	2	2130	2	TIAM1	21	32554924	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	144167	32554924	15574971	8773	29698											
GART	2618	broad.mit.edu	37	chr21	34894556	34894556	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accagcatatttccagctgcGatatctactccagattcctt	10	13	5	13	1	1	1	0	0	1	1	4	2	4	1	4	0	4	2	4	0	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:34894556G>A	ENST00000381831.3	-	12	1595	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	GART_ENST00000381839.3_Silent_p.I444I|GART_ENST00000543717.1_5'UTR|GART_ENST00000381815.4_Silent_p.I444I	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	444	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TTCCAGCTGCGATATCTACTC	0.333																																						ENST00000381831.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.(1330-1332)atC>atT		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)						105	93	97					21																	34894556		2203	4300	6503	SO:0001819	synonymous_variant	2618				'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	g.chr21:34894556G>A	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.1332C>T	21.37:g.34894556G>A						GART_ENST00000381839.3_Silent_p.I444I|GART_ENST00000543717.1_5'UTR|GART_ENST00000381815.4_Silent_p.I444I	p.I444I	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN			12	1595	-			444			AIRS.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Silent	SNP	ENST00000381831.3	37	c.1332C>T	CCDS13627.1																																																																																				0.333	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		25	13	0	0	0	1	0	25	13					A	34894556	G	A	34894556	2	1	435	1	0	0	0	0	0	0	0	1	6243	1048	37	2		2	GART	21	34894556	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2339632	34894556	13235339	8774	29699											
SON	6651	broad.mit.edu	37	chr21	34924073	34924073	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaccatggattctcagatgTtagcaaccagcaccatggac	12	8	9	12	0	1	1	1	0	1	1	2	3	1	3	3	2	3	4	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:34924073T>C	ENST00000356577.4	+	3	3011	c.2536T>C	c.(2536-2538)Tta>Cta	p.L846L	SON_ENST00000300278.4_Silent_p.L846L|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.L846L|SON_ENST00000381679.4_Silent_p.L846L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	846	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTCTCAGATGTTAGCAACCAG	0.493																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2536-2538)Tta>Cta		SON DNA binding protein							202	197	198					21																	34924073		2203	4300	6503	SO:0001819	synonymous_variant	6651				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	g.chr21:34924073T>C	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2536T>C	21.37:g.34924073T>C						SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.L846L|SON_ENST00000290239.6_Silent_p.L846L|SON_ENST00000300278.4_Silent_p.L846L	p.L846L	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	3011	+			846			17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.2536T>C	CCDS13629.1																																																																																				0.493	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		85	34	0	0	0	1	0	85	34					C	34924073	T	C	34924073	2	2	435	1	0	0	0	0	0	0	0	1	14926	1722	60	4		4	SON	21	34924073	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	29517	34924073	13205822	8775	29700											
SON	6651	broad.mit.edu	37	chr21	34924855	34924855	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccggtctatgatgtcatcGtactctgcagctgaccgatc	8	11	10	12	3	3	2	1	2	2	0	5	4	3	2	2	1	3	3	2	1	2	2	rs201429291		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:34924855G>A	ENST00000356577.4	+	3	3793	c.3318G>A	c.(3316-3318)tcG>tcA	p.S1106S	SON_ENST00000300278.4_Silent_p.S1106S|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.S1106S|SON_ENST00000381679.4_Silent_p.S1106S	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1106	14 X 6 AA repeats of [ED]-R-S-M-M-S.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGATGTCATCGTACTCTGCAG	0.468																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(3316-3318)tcG>tcA		SON DNA binding protein							207	157	174					21																	34924855		2203	4300	6503	SO:0001819	synonymous_variant	6651				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	g.chr21:34924855G>A	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3318G>A	21.37:g.34924855G>A						SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.S1106S|SON_ENST00000290239.6_Silent_p.S1106S|SON_ENST00000300278.4_Silent_p.S1106S	p.S1106S	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	3793	+			1106			14 X 6 AA repeats of [ED]-R-S-M-M-S.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.3318G>A	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	3.529	-0.096070	0.07010	.	.	ENSG00000159140	ENST00000436227	.	.	.	6.06	4.21	0.49690	.	.	.	.	.	T	0.60183	0.2249	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58183	-0.7681	4	.	.	.	.	9.7269	0.40337	0.0846:0.1744:0.741:0.0	.	.	.	.	H	101	.	.	R	+	2	0	SON	33846725	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.296000	0.19083	1.565000	0.49641	0.655000	0.94253	CGT		0.468	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		4	54	0	0	0	1	0	4	54					A	34924855	G	A	34924855	2	1	435	1	0	0	0	0	0	0	0	1	14926	1132	40	1		1	SON	21	34924855	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	782	34924855	13205040	8776	29701											
DONSON	29980	broad.mit.edu	37	chr21	34958331	34958331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgccctacaatgctggaCaagaccttgagcttcttcct	8	13	8	12	0	1	2	0	1	1	1	2	3	2	3	3	1	4	3	3	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:34958331C>T	ENST00000303071.5	-	3	625	c.559G>A	c.(559-561)Gtc>Atc	p.V187I	DONSON_ENST00000303113.6_Missense_Mutation_p.V187I|DONSON_ENST00000432378.1_Missense_Mutation_p.V187I|DONSON_ENST00000453626.1_Missense_Mutation_p.V187I|AP000304.12_ENST00000429238.1_Missense_Mutation_p.C148Y	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	187					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						CAATGCTGGACAAGACCTTGA	0.388																																						ENST00000453626.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						c.(559-561)Gtc>Atc		downstream neighbor of SON							118	104	109					21																	34958331		2203	4300	6503	SO:0001583	missense	29980				multicellular organismal development	nucleus		g.chr21:34958331C>T	AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.559G>A	21.37:g.34958331C>T	ENSP00000307143:p.Val187Ile					DONSON_ENST00000303071.5_Missense_Mutation_p.V187I|DONSON_ENST00000432378.1_Missense_Mutation_p.V187I|AP000304.12_ENST00000429238.1_Missense_Mutation_p.C148Y|DONSON_ENST00000303113.6_Missense_Mutation_p.V187I	p.V187I			Q9NYP3	DONS_HUMAN			3	563	-			187					Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	c.559G>A	CCDS13632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.69|13.69	2.312060|2.312060	0.40895|0.40895	.|.	.|.	ENSG00000159147;ENSG00000249209|ENSG00000159147	ENST00000440810;ENST00000429238|ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378	.|.	.|.	.|.	5.5|5.5	-2.45|-2.45	0.06481|0.06481	.|.	.|0.763892	.|0.12918	.|N	.|0.428401	T|T	0.22399|0.22399	0.0540|0.0540	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.10296	.|0.001;0.003;0.001	.|B;B;B	.|0.11329	.|0.006;0.004;0.006	T|T	0.23261|0.23261	-1.0193|-1.0193	5|9	.|0.20046	.|T	.|0.44	-3.9277|-3.9277	11.7564|11.7564	0.51878|0.51878	0.0:0.5928:0.0:0.4072|0.0:0.5928:0.0:0.4072	.|.	.|187;187;187	.|F8W8A5;C9J4K5;Q9NYP3	.|.;.;DONS_HUMAN	Y|I	45;148|187	.|.	.|ENSP00000307143:V187I	C|V	-|-	2|1	0|0	DONSON;AP000304.12|DONSON	33880201|33880201	0.052000|0.052000	0.20516|0.20516	0.802000|0.802000	0.32245|0.32245	0.990000|0.990000	0.78478|0.78478	0.060000|0.060000	0.14342|0.14342	-0.470000|-0.470000	0.06901|0.06901	0.563000|0.563000	0.77884|0.77884	TGT|GTC		0.388	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613		31	26	0	0	0	1	0	31	26					T	34958331	C	T	34958331	3	4	435	1	0	0	0	0	1	0	0	0	4706	478	17	3	1173	3	DONSON	21	34958331	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33476	34958331	13171564	8777	29702											
ITSN1	6453	broad.mit.edu	37	chr21	35257765	35257765	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcccaaagggcaacaggCattggaaggttgatggtgaa	12	8	14	7	1	0	2	0	2	0	0	1	3	1	3	1	5	1	4	1	5	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:35257765C>T	ENST00000381318.3	+	38	5070	c.4782C>T	c.(4780-4782)ggC>ggT	p.G1594G	ITSN1_ENST00000437442.2_Silent_p.G1533G|ITSN1_ENST00000381285.4_Silent_p.G1594G|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Silent_p.G1589G|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1594	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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						GGGCAACAGGCATTGGAAGGT	0.527																																						ENST00000381318.3																			0				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						c.(4780-4782)ggC>ggT		intersectin 1 (SH3 domain protein)							217	184	195					21																	35257765		2203	4300	6503	SO:0001819	synonymous_variant	6453				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	g.chr21:35257765C>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4782C>T	21.37:g.35257765C>T						ITSN1_ENST00000399367.3_Silent_p.G1589G|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Silent_p.G1594G|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.G1533G	p.G1594G	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			38	5070	+			1594			C2.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.4782C>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.335945	0.24253	.	.	ENSG00000205726	ENST00000381284	.	.	.	5.87	-11.7	0.00046	.	.	.	.	.	T	0.41511	0.1162	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51212	-0.8734	4	.	.	.	.	5.8043	0.18432	0.0708:0.5275:0.3013:0.1003	.	.	.	.	Y	274	.	.	H	+	1	0	ITSN1	34179635	0.088000	0.21588	0.052000	0.19188	0.968000	0.65278	-0.670000	0.05256	-2.686000	0.00406	0.643000	0.83706	CAT		0.527	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		15	6	0	0	0	1	0	15	6					T	35257765	C	T	35257765	2	4	435	1	0	0	0	0	0	0	0	1	7926	697	25	3		3	ITSN1	21	35257765	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	299434	35257765	12872130	8778	29703											
CHAF1B	8208	broad.mit.edu	37	chr21	37781094	37781094	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggtgaaaatgtaatgaatAccacttatgttttctccagg	12	14	8	7	0	1	2	0	2	1	0	2	2	1	2	2	2	1	2	2	2	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:37781094A>G	ENST00000314103.5	+	9	944	c.793A>G	c.(793-795)Acc>Gcc	p.T265A		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	265					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TGTAATGAATACCACTTATGT	0.403																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(793-795)Acc>Gcc		chromatin assembly factor 1, subunit B (p60)							111	101	104					21																	37781094		2203	4300	6503	SO:0001583	missense	8208				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	g.chr21:37781094A>G	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"WD repeat domain containing"	1911	protein-coding gene	gene with protein product	"M-phase phosphoprotein 7", "Chromatin assembly factor I, p60 subunit", "human chromatin assembly factor-I p60 subunit"	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.793A>G	21.37:g.37781094A>G	ENSP00000315700:p.Thr265Ala						p.T265A	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			9	944	+			265					Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	c.793A>G	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.856778	0.51376	.	.	ENSG00000159259	ENST00000314103	T	0.69040	-0.37	5.71	4.53	0.55603	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.100261	0.64402	D	0.000001	T	0.62060	0.2397	L	0.55743	1.74	0.58432	D	0.999998	P	0.42827	0.791	B	0.41135	0.348	T	0.58825	-0.7568	10	0.30854	T	0.27	-17.3756	12.7863	0.57507	0.863:0.137:0.0:0.0	.	265	Q13112	CAF1B_HUMAN	A	265	ENSP00000315700:T265A	ENSP00000315700:T265A	T	+	1	0	CHAF1B	36702964	1.000000	0.71417	0.017000	0.16124	0.973000	0.67179	8.268000	0.89876	0.948000	0.37687	0.533000	0.62120	ACC		0.403	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		7	22	0	0	0	1	0	7	22					G	37781094	A	G	37781094	3	3	435	1	0	0	0	0	1	0	0	0	3312	391	14	4	823	4	CHAF1B	21	37781094	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2523329	37781094	10348801	8779	29704											
SIM2	6493	broad.mit.edu	37	chr21	38072205	38072205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagctacctgaagatgcgCgccgtcttccccgaaggtga	9	7	12	13	5	1	3	0	2	1	1	2	5	2	3	4	1	3	1	4	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:38072205C>T	ENST00000290399.6	+	1	772	c.159C>T	c.(157-159)cgC>cgT	p.R53R	SIM2_ENST00000430056.3_Silent_p.R53R|AP000697.6_ENST00000430607.1_RNA|SIM2_ENST00000460783.1_3'UTR	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	53	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TGAAGATGCGCGCCGTCTTCC	0.697																																						ENST00000290399.6																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						c.(157-159)cgC>cgT		single-minded family bHLH transcription factor 2							49	40	43					21																	38072205		2198	4298	6496	SO:0001819	synonymous_variant	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38072205C>T		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"Basic helix-loop-helix proteins"	10883	protein-coding gene	gene with protein product	"transcription factor SIM2"	600892	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.159C>T	21.37:g.38072205C>T						SIM2_ENST00000430056.3_Silent_p.R53R|AP000697.6_ENST00000430607.1_RNA|SIM2_ENST00000460783.1_3'UTR	p.R53R	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN			1	772	+			53			Helix-loop-helix motif.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Silent	SNP	ENST00000290399.6	37	c.159C>T	CCDS13646.1																																																																																				0.697	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		7	1	0	0	0	1	0	7	1					T	38072205	C	T	38072205	2	4	435	1	0	0	0	0	0	0	0	1	14324	755	27	1		1	SIM2	21	38072205	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	291111	38072205	10057690	8780	29705											
HLCS	3141	broad.mit.edu	37	chr21	38269241	38269241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtctgcagattttggCgatagatctctaagttgaaa	10	14	11	6	1	2	3	0	1	2	2	3	4	2	3	0	2	1	3	0	2	3	6	rs74574054		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:38269241C>T	ENST00000399120.1	-	7	2600	c.1370G>A	c.(1369-1371)cGc>cAc	p.R457H	HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.4_Missense_Mutation_p.R457H	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	457					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			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)	CAGATTTTGGCGATAGATCTC	0.468													C|||	1	0.000199681	8e-04	0	5008	,	,		20730	0		0	False		,,,				2504	0					ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1369-1371)cGc>cAc		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)	C	HIS/ARG,HIS/ARG,HIS/ARG	6,4400	11.4+/-27.6	0,6,2197	111	97	102		1370,1370,1370	3.3	0.2	21	dbSNP_131	102	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	HLCS	NM_000411.6,NM_001242784.1,NM_001242785.1	29,29,29	0,7,6496	TT,TC,CC		0.0116,0.1362,0.0538	probably-damaging,probably-damaging,probably-damaging	457/727,457/727,457/727	38269241	7,12999	2203	4300	6503	SO:0001583	missense	3141				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	g.chr21:38269241C>T		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1370G>A	21.37:g.38269241C>T	ENSP00000382071:p.Arg457His					HLCS_ENST00000336648.3_Missense_Mutation_p.R457H|HLCS_ENST00000482273.1_5'UTR	p.R457H	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			7	2600	-		Myeloproliferative disorder(46;0.0422)	457					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.1370G>A	CCDS13647.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.87	2.367515	0.42003	0.001362	1.16E-4	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.97041	-4.22;-4.22	5.12	3.28	0.37604	.	0.306610	0.33959	N	0.004385	D	0.94866	0.8341	M	0.61703	1.905	0.21290	N	0.999739	D	0.63046	0.992	P	0.45343	0.477	D	0.87953	0.2725	10	0.16420	T	0.52	.	8.849	0.35188	0.0:0.7092:0.0:0.2908	.	457	P50747	BPL1_HUMAN	H	457	ENSP00000382071:R457H;ENSP00000338387:R457H	ENSP00000338387:R457H	R	-	2	0	HLCS	37191111	0.690000	0.27699	0.240000	0.24138	0.262000	0.26303	1.173000	0.31920	0.659000	0.30945	0.563000	0.77884	CGC		0.468	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			5	27	0	0	0	1	0	5	27					T	38269241	C	T	38269241	3	4	435	1	0	0	0	0	1	0	0	0	7213	768	27	1	834	1	HLCS	21	38269241	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	197036	38269241	9860654	8781	29706											
BRWD1	54014	broad.mit.edu	37	chr21	40568702	40568702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cataggtcctgagtcttctgCcattccacctgcgcagccca	7	10	8	16	1	2	1	0	1	2	0	4	1	4	1	5	1	3	1	5	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:40568702C>T	ENST00000333229.2	-	41	6620	c.6293G>A	c.(6292-6294)gGc>gAc	p.G2098D	BRWD1_ENST00000342449.3_Missense_Mutation_p.G2098D|BRWD1_ENST00000380800.3_Missense_Mutation_p.G2098D	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2098					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				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)				GAGTCTTCTGCCATTCCACCT	0.418																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				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						c.(6292-6294)gGc>gAc		bromodomain and WD repeat domain containing 1							172	165	167					21																	40568702		2203	4298	6501	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40568702C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6293G>A	21.37:g.40568702C>T	ENSP00000330753:p.Gly2098Asp					BRWD1_ENST00000380800.3_Missense_Mutation_p.G2098D|BRWD1_ENST00000333229.2_Missense_Mutation_p.G2098D	p.G2098D	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			41	6371	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	2098					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.6293G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798251	0.50208	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56103	0.52;0.48;0.61	5.53	4.64	0.57946	.	0.372309	0.26460	N	0.024256	T	0.42562	0.1208	L	0.51914	1.62	0.80722	D	1	B;B	0.14438	0.01;0.006	B;B	0.16722	0.016;0.007	T	0.42378	-0.9455	10	0.41790	T	0.15	-3.3483	5.5222	0.16939	0.0:0.6483:0.1867:0.1649	.	2098;2098	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	D	2098	ENSP00000330753:G2098D;ENSP00000344333:G2098D;ENSP00000370178:G2098D	ENSP00000330753:G2098D	G	-	2	0	BRWD1	39490572	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	0.941000	0.29005	2.596000	0.87737	0.655000	0.94253	GGC		0.418	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		57	37	0	0	0	1	0	57	37					T	40568702	C	T	40568702	3	4	435	1	0	0	0	0	1	0	0	0	1525	739	26	3	916	3	BRWD1	21	40568702	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2299461	40568702	7561193	8782	29707											
BRWD1	54014	broad.mit.edu	37	chr21	40582837	40582837	+	Frame_Shift_Del	DEL	T	T	-																															atagttcgtagctctgatgcTttttttcccatcatggacct																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:40582837delT	ENST00000333229.2	-	35	4246	c.3919delA	c.(3919-3921)agcfs	p.S1307fs	BRWD1_ENST00000342449.3_Frame_Shift_Del_p.S1307fs|BRWD1_ENST00000380800.3_Frame_Shift_Del_p.S1307fs	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1307					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				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)				GCTCTGATGCTTTTTTTCCCA	0.348																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				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						c.(3919-3921)gcfs		bromodomain and WD repeat domain containing 1							90	84	86					21																	40582837		2203	4300	6503	SO:0001589	frameshift_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40582837delT	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3919delA	21.37:g.40582837delT	ENSP00000330753:p.Ser1307fs					BRWD1_ENST00000380800.3_Frame_Shift_Del_p.S1307fs|BRWD1_ENST00000333229.2_Frame_Shift_Del_p.S1307fs	p.S1307fs	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			35	3997	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1307					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Frame_Shift_Del	DEL	ENST00000333229.2	37	c.3919delA	CCDS13662.1																																																																																				0.348	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		11	21						11	21	---	---	---	---	-	40582837	T	-	40582837	7	5	435	1	0	1	0	1	0	0	0	0	1525	1609	56	0	3314	0	BRWD1	21	40582837	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	14135	40582837	7547058	8783	29708											
LCA5L	150082	broad.mit.edu	37	chr21	40781905	40781905	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaagagttaaaattacCttcatattttctcttagaat	14	18	3	6	0	2	2	1	0	1	2	3	2	2	2	1	0	1	1	1	0	8	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:40781905C>T	ENST00000358268.2	-	9	1810	c.1282G>A	c.(1282-1284)Gat>Aat	p.D428N	LCA5L_ENST00000380671.2_Splice_Site_p.D428N|LCA5L_ENST00000495240.1_5'UTR|LCA5L_ENST00000288350.3_Splice_Site_p.D428N|WRB_ENST00000541890.1_Intron			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	428										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTAAAATTACCTTCATATTTT	0.294																																						ENST00000358268.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.e9+1		Leber congenital amaurosis 5-like							88	82	84					21																	40781905		2202	4296	6498	SO:0001630	splice_region_variant	150082							g.chr21:40781905C>T	AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 13"	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1282+1G>A	21.37:g.40781905C>T						LCA5L_ENST00000288350.3_Splice_Site_p.D428_splice|LCA5L_ENST00000495240.1_5'UTR|LCA5L_ENST00000380671.2_Splice_Site_p.D428_splice|WRB_ENST00000541890.1_Intron	p.D428_splice			O95447	LCA5L_HUMAN			9	1810	-		Prostate(19;1.2e-06)	428					D3DSI0|Q3ZCT0	Splice_Site	SNP	ENST00000358268.2	37	c.1282_splice	CCDS13665.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423758	0.43020	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	T;T;T	0.55413	0.52;0.52;0.52	4.51	3.55	0.40652	.	1.223630	0.05872	N	0.624754	T	0.50309	0.1608	L	0.55481	1.735	0.33504	D	0.590266	B	0.14012	0.009	B	0.12156	0.007	T	0.46133	-0.9213	9	.	.	.	-2.8614	11.3449	0.49554	0.0:0.8162:0.1838:0.0	.	428	O95447	LCA5L_HUMAN	N	428	ENSP00000288350:D428N;ENSP00000370046:D428N;ENSP00000351008:D428N	.	D	-	1	0	LCA5L	39703775	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	2.303000	0.43646	2.228000	0.72767	0.650000	0.86243	GAT		0.294	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2	NM_152505	Missense_Mutation	11	10	0	0	0	1	0	11	10					T	40781905	C	T	40781905	5	4	435	1	0	0	0	0	0	0	1	0	8657	695	24	3	738	3	LCA5L	21	40781905	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	199068	40781905	7347990	8784	29709											
B3GALT5	10317	broad.mit.edu	37	chr21	41033253	41033253	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgaaaggctgaacatcaGattggaggagctccactccc	11	7	10	13	1	1	2	1	1	0	1	4	5	3	4	3	3	2	2	3	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:41033253G>T	ENST00000380620.4	+	5	1359	c.767G>T	c.(766-768)aGa>aTa	p.R256I	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000398714.2_Missense_Mutation_p.R256I|B3GALT5_ENST00000343118.4_Missense_Mutation_p.R256I|B3GALT5_ENST00000380618.1_Missense_Mutation_p.R256I			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	256					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				CTGAACATCAGATTGGAGGAG	0.552																																						ENST00000380620.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16						c.(766-768)aGa>aTa		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5							91	91	91					21																	41033253		2203	4300	6503	SO:0001583	missense	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41033253G>T	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"Beta 3-glycosyltransferases"	920	protein-coding gene	gene with protein product	"homolog of C. elegans Bt toxin resistance gene bre-5", "GlcNAc-beta-1,3-galactosyltransferase 5"	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.767G>T	21.37:g.41033253G>T	ENSP00000369994:p.Arg256Ile					B3GALT5_ENST00000398714.2_Missense_Mutation_p.R256I|B3GALT5_ENST00000380618.1_Missense_Mutation_p.R256I|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.R256I	p.R256I			Q9Y2C3	B3GT5_HUMAN			5	1359	+		Prostate(19;2.55e-06)	256					A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	c.767G>T	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	G	9.333	1.060946	0.19987	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.64	-1.7	0.08159	.	0.782790	0.11146	N	0.594673	T	0.80308	0.4599	L	0.45352	1.415	0.19775	N	0.999954	B	0.33198	0.401	B	0.36378	0.223	T	0.67177	-0.5736	10	0.38643	T	0.18	.	6.7662	0.23568	0.6012:0.2697:0.1292:0.0	.	256	Q9Y2C3	B3GT5_HUMAN	I	256	ENSP00000369994:R256I;ENSP00000369992:R256I;ENSP00000343318:R256I;ENSP00000381699:R256I	ENSP00000343318:R256I	R	+	2	0	B3GALT5	39955123	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.142000	0.16096	-0.542000	0.06249	0.655000	0.94253	AGA		0.552	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		27	39	1	0	4.22769e-11	1	4.54161e-11	27	39					T	41033253	G	T	41033253	3	4	435	1	0	0	0	0	1	0	0	0	1250	942	33	5	769	5	B3GALT5	21	41033253	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	251348	41033253	7096642	8785	29710											
DSCAM	1826	broad.mit.edu	37	chr21	41424022	41424022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatccgtcaacagaaccGtggagcgatcatctacagga	13	6	10	12	3	3	1	2	0	1	1	4	4	4	3	2	2	5	1	2	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:41424022G>A	ENST00000400454.1	-	30	5525	c.5048C>T	c.(5047-5049)aCg>aTg	p.T1683M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1683					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				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)				CAACAGAACCGTGGAGCGATC	0.537																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				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						c.(5047-5049)aCg>aTg		Down syndrome cell adhesion molecule							82	82	82					21																	41424022		2041	4194	6235	SO:0001583	missense	1826				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	g.chr21:41424022G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5048C>T	21.37:g.41424022G>A	ENSP00000383303:p.Thr1683Met						p.T1683M	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			30	5525	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1683					O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.5048C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654113	0.88056	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.65549	-0.16;-0.0	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.71533	0.3351	L	0.32530	0.975	0.52501	D	0.999957	D	0.89917	1.0	D	0.64410	0.925	T	0.73414	-0.3990	10	0.87932	D	0	.	20.0545	0.97645	0.0:0.0:1.0:0.0	.	1683	O60469	DSCAM_HUMAN	M	1683;1435	ENSP00000383303:T1683M;ENSP00000385342:T1435M	ENSP00000383303:T1683M	T	-	2	0	DSCAM	40345892	1.000000	0.71417	0.961000	0.40146	0.874000	0.50279	9.357000	0.97099	2.748000	0.94277	0.655000	0.94253	ACG		0.537	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		9	21	0	0	0	1	0	9	21					A	41424022	G	A	41424022	3	1	435	1	0	0	0	0	1	0	0	0	4768	1145	40	1	1006	1	DSCAM	21	41424022	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	390769	41424022	6705873	8786	29711											
DSCAM	1826	broad.mit.edu	37	chr21	41710040	41710040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttacctttcacggtcaCgtggacgctctggctggtgg	4	11	15	11	3	3	0	2	0	1	0	3	1	3	1	1	6	1	3	1	6	1	2	rs376716215		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:41710040C>T	ENST00000400454.1	-	8	2248	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	591	Ig-like C2-type 6.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				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)				TTCACGGTCACGTGGACGCTC	0.502																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				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						c.(1771-1773)Gtg>Atg		Down syndrome cell adhesion molecule							140	141	140					21																	41710040		2081	4214	6295	SO:0001583	missense	1826				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	g.chr21:41710040C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1771G>A	21.37:g.41710040C>T	ENSP00000383303:p.Val591Met						p.V591M	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			8	2248	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	591			Ig-like C2-type 6.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1771G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390084	0.82902	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.80123	-1.34;-1.34	5.27	5.27	0.74061	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.067420	0.64402	D	0.000015	D	0.88455	0.6441	M	0.88775	2.98	0.58432	D	0.999997	D	0.61080	0.989	P	0.51016	0.656	D	0.90751	0.4657	10	0.72032	D	0.01	.	19.2329	0.93847	0.0:1.0:0.0:0.0	.	591	O60469	DSCAM_HUMAN	M	591;343	ENSP00000383303:V591M;ENSP00000385342:V343M	ENSP00000383303:V591M	V	-	1	0	DSCAM	40631910	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.607000	0.82883	2.617000	0.88574	0.655000	0.94253	GTG		0.502	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		31	13	0	0	0	1	0	31	13					T	41710040	C	T	41710040	3	4	435	1	0	0	0	0	1	0	0	0	4768	536	19	1	4371	1	DSCAM	21	41710040	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	286018	41710040	6419855	8787	29712											
BACE2	25825	broad.mit.edu	37	chr21	42622768	42622768	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtcttacttccctaaaatCtccatctacctgagagacga	11	12	6	12	1	3	2	0	1	3	1	5	4	4	2	3	1	2	0	3	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:42622768C>T	ENST00000330333.6	+	7	1537	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	BACE2_ENST00000328735.6_Silent_p.I358I|BACE2_ENST00000347667.5_Intron|BACE2_ENST00000466122.1_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	358					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TCCCTAAAATCTCCATCTACC	0.463																																						ENST00000330333.6																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1072-1074)atC>atT		beta-site APP-cleaving enzyme 2							123	104	111					21																	42622768		2203	4300	6503	SO:0001819	synonymous_variant	25825				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	g.chr21:42622768C>T	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.1074C>T	21.37:g.42622768C>T						BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Silent_p.I358I|BACE2_ENST00000347667.4_Intron	p.I358I	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN			7	1537	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	358					A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Silent	SNP	ENST00000330333.6	37	c.1074C>T	CCDS13668.1																																																																																				0.463	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			31	17	0	0	0	1	0	31	17					T	42622768	C	T	42622768	2	4	435	1	0	0	0	0	0	0	0	1	1282	903	32	3		3	BACE2	21	42622768	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	912728	42622768	5507127	8788	29713											
MX1	4599	broad.mit.edu	37	chr21	42823102	42823102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttgattagatatggtcCggcttgctttcacagatgtt	7	17	9	8	1	2	3	1	1	1	2	3	3	3	3	1	2	1	3	1	2	2	6	rs149908360		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:42823102C>T	ENST00000398600.2	+	17	2466	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	MX1_ENST00000398598.3_Missense_Mutation_p.R481W|MX1_ENST00000288383.6_Missense_Mutation_p.R458W|MX1_ENST00000455164.2_Missense_Mutation_p.R481W	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	481	Middle domain.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AGATATGGTCCGGCTTGCTTT	0.323													C|||	1	0.000199681	8e-04	0	5008	,	,		13628	0		0	False		,,,				2504	0					ENST00000398600.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1441-1443)Cgg>Tgg		myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	172	192	185		1441,1441,1441	2.7	0.2	21	dbSNP_134	185	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MX1	NM_001144925.1,NM_001178046.1,NM_002462.3	101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	481/663,481/663,481/663	42823102	1,13005	2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42823102C>T		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"interferon-inducible protein p78"	147150	"myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)", "myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1441C>T	21.37:g.42823102C>T	ENSP00000381601:p.Arg481Trp					MX1_ENST00000455164.2_Missense_Mutation_p.R481W|MX1_ENST00000398598.3_Missense_Mutation_p.R481W|MX1_ENST00000288383.6_Missense_Mutation_p.R458W	p.R481W	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN			17	2466	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	481					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.1441C>T	CCDS13673.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.811	0.150771	0.09185	0.0	1.16E-4	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	4.62	2.72	0.32119	Dynamin central domain (1);	0.386186	0.27654	N	0.018412	T	0.67344	0.2883	M	0.65975	2.015	0.09310	N	0.999997	B	0.25312	0.123	B	0.28139	0.086	T	0.59963	-0.7355	10	0.48119	T	0.1	-16.13	3.8511	0.08955	0.1666:0.5782:0.162:0.0932	.	481	P20591	MX1_HUMAN	W	481;481;481;458	ENSP00000381601:R481W;ENSP00000381599:R481W;ENSP00000410523:R481W;ENSP00000288383:R458W	ENSP00000288383:R458W	R	+	1	2	MX1	41744972	0.298000	0.24417	0.166000	0.22797	0.102000	0.19082	1.132000	0.31418	0.582000	0.29556	0.655000	0.94253	CGG		0.323	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			47	30	0	0	0	1	0	47	30					T	42823102	C	T	42823102	3	4	435	1	0	0	0	0	1	0	0	0	9997	643	23	2	1483	2	MX1	21	42823102	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	200334	42823102	5306793	8789	29714											
RIPK4	54101	broad.mit.edu	37	chr21	43161904	43161904	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctccacgacaccccgCaccctcctctccacggccat	8	5	7	21	3	1	0	0	0	1	0	4	2	3	1	7	2	1	2	7	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:43161904C>T	ENST00000352483.2	-	9	1657	c.1593G>A	c.(1591-1593)gtG>gtA	p.V531V	RIPK4_ENST00000332512.3_Silent_p.V483V|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Silent_p.V420V|RIPK4_ENST00000542057.1_Silent_p.V420V			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	531					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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						CGACACCCCGCACCCTCCTCT	0.632																																						ENST00000352483.2																			0				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						c.(1591-1593)gtG>gtA		receptor-interacting serine-threonine kinase 4							96	84	89					21																	43161904		2203	4300	6503	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161904C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1593G>A	21.37:g.43161904C>T						RIPK4_ENST00000332512.3_Silent_p.V483V|RIPK4_ENST00000542057.1_Silent_p.V420V|RIPK4_ENST00000544709.1_Silent_p.V420V	p.V531V			Q96T11	Q96T11_HUMAN			9	1657	-			483					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1593G>A																																																																																					0.632	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		33	15	0	0	0	1	0	33	15					T	43161904	C	T	43161904	2	4	435	1	0	0	0	0	0	0	0	1	13383	697	25	3		3	RIPK4	21	43161904	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	338802	43161904	4967991	8790	29715											
PRDM15	63977	broad.mit.edu	37	chr21	43282055	43282055	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacgttcaaaggtatctcGtgcggctctagcaagtgtga	9	12	11	9	3	4	1	2	1	2	0	5	1	4	1	0	2	2	4	0	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:43282055G>A	ENST00000269844.3	-	6	791	c.681C>T	c.(679-681)caC>caT	p.H227H	PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000447207.2_5'Flank	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AAGGTATCTCGTGCGGCTCTA	0.512																																						ENST00000269844.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(679-681)caC>caT		PR domain containing 15							91	72	78					21																	43282055		2203	4300	6503	SO:0001819	synonymous_variant	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43282055G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.681C>T	21.37:g.43282055G>A						PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000422911.1_Intron	p.H227H	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN			6	791	-			227					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	c.681C>T	CCDS13676.1																																																																																				0.512	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		14	7	0	0	0	1	0	14	7					A	43282055	G	A	43282055	2	1	435	1	0	0	0	0	0	0	0	1	12456	1136	40	1		1	PRDM15	21	43282055	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	120151	43282055	4847840	8791	29716											
C2CD2	25966	broad.mit.edu	37	chr21	43327200	43327200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acagggcatcaccgtgcggtCcttttctatttttgcagcag	7	13	10	11	2	2	0	1	0	1	0	3	0	3	0	2	2	3	3	2	2	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:43327200C>T	ENST00000380486.3	-	10	1460	c.1219G>A	c.(1219-1221)Gac>Aac	p.D407N	C2CD2_ENST00000329623.7_Missense_Mutation_p.D252N	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	407						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						ACCGTGCGGTCCTTTTCTATT	0.562																																						ENST00000380486.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						c.(1219-1221)Gac>Aac		C2 calcium-dependent domain containing 2							74	71	72					21																	43327200		2203	4300	6503	SO:0001583	missense	25966					cytosol|extracellular region|nucleus		g.chr21:43327200C>T	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1219G>A	21.37:g.43327200C>T	ENSP00000369853:p.Asp407Asn					C2CD2_ENST00000329623.7_Missense_Mutation_p.D252N	p.D407N	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN			10	1460	-			407					Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	c.1219G>A	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654996	0.88056	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.32515	1.47;1.45	4.9	4.9	0.64082	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	M	0.81802	2.56	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62186	-0.6907	10	0.46703	T	0.11	-23.334	18.0791	0.89437	0.0:1.0:0.0:0.0	.	252;407	Q6P6D1;Q9Y426	.;CU025_HUMAN	N	252;407	ENSP00000329302:D252N;ENSP00000369853:D407N	ENSP00000329302:D252N	D	-	1	0	C2CD2	42200269	1.000000	0.71417	0.971000	0.41717	0.496000	0.33645	7.192000	0.77771	2.413000	0.81919	0.655000	0.94253	GAC		0.562	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		17	7	0	0	0	1	0	17	7					T	43327200	C	T	43327200	3	4	435	1	0	0	0	0	1	0	0	0	2152	855	30	3	891	3	C2CD2	21	43327200	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	45145	43327200	4802695	8792	29717											
PDE9A	5152	broad.mit.edu	37	chr21	44152048	44152048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctaccaggaaggccagcGcatccctccaggtaacgggc	9	5	12	15	2	0	0	0	0	0	0	2	1	2	1	4	4	4	3	4	4	3	2	rs139833833		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:44152048G>A	ENST00000291539.6	+	5	491	c.431G>A	c.(430-432)cGc>cAc	p.R144H	PDE9A_ENST00000398232.3_Missense_Mutation_p.R77H|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000398225.3_Missense_Mutation_p.R103H|AP001627.1_ENST00000437426.1_RNA|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000328862.6_Missense_Mutation_p.R118H|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000470987.1_Intron|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000335440.6_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	144					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GAAGGCCAGCGCATCCCTCCA	0.632																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(430-432)cGc>cAc		phosphodiesterase 9A		G	,,,,,,,,,,,,,,HIS/ARG,HIS/ARG,HIS/ARG,,,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	50	51	50		,,,,,,,,,,,,,,230,308,353,,,431	-0.3	0	21	dbSNP_134	50	0,8598		0,0,4299	no	intron,intron,intron,intron,intron,intron,utr-5,intron,intron,intron,intron,intron,intron,intron,missense,missense,missense,intron,utr-5,missense	PDE9A	NM_001001567.1,NM_001001568.1,NM_001001569.1,NM_001001570.1,NM_001001571.1,NM_001001572.1,NM_001001573.1,NM_001001574.1,NM_001001575.1,NM_001001576.1,NM_001001577.1,NM_001001578.1,NM_001001579.1,NM_001001580.1,NM_001001581.1,NM_001001582.1,NM_001001583.1,NM_001001584.2,NM_001001585.1,NM_002606.2	,,,,,,,,,,,,,,29,29,29,,,29	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	,,,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,77/527,103/553,118/568,,,144/594	44152048	2,13002	2203	4299	6502	SO:0001583	missense	5152				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	g.chr21:44152048G>A	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"Phosphodiesterases"	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.431G>A	21.37:g.44152048G>A	ENSP00000291539:p.Arg144His					PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000398232.3_Missense_Mutation_p.R77H|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000328862.6_Missense_Mutation_p.R118H|PDE9A_ENST00000398225.3_Missense_Mutation_p.R103H|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000470987.1_Intron	p.R144H	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN			5	491	+			144					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	c.431G>A	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	G	5.485	0.274445	0.10403	4.54E-4	0.0	ENSG00000160191	ENST00000291539;ENST00000398232;ENST00000328862;ENST00000398225	T;T;T;T	0.68765	-0.33;-0.35;-0.34;-0.34	2.85	-0.332	0.12675	.	7739.210000	0.00166	N	0.000000	T	0.41396	0.1157	N	0.08118	0	0.09310	N	1	P;P;P;B	0.36909	0.573;0.573;0.573;0.437	B;B;B;B	0.26517	0.07;0.07;0.07;0.032	T	0.36016	-0.9765	10	0.45353	T	0.12	.	4.5236	0.11971	0.2622:0.1901:0.5476:0.0	.	77;118;103;144	O76083-13;O76083-15;O76083-14;O76083	.;.;.;PDE9A_HUMAN	H	144;77;118;103	ENSP00000291539:R144H;ENSP00000381287:R77H;ENSP00000328699:R118H;ENSP00000381281:R103H	ENSP00000291539:R144H	R	+	2	0	PDE9A	43025117	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.415000	0.07106	-0.238000	0.09724	-0.921000	0.02739	CGC		0.632	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			5	2	0	0	0	1	0	5	2					A	44152048	G	A	44152048	3	1	435	1	0	0	0	0	1	0	0	0	11655	1087	38	1	529	1	PDE9A	21	44152048	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	824848	44152048	3977847	8793	29718											
PDE9A	5152	broad.mit.edu	37	chr21	44189204	44189204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgagacaaagtgaccaaggCcacagcccagattgggttca	13	5	11	12	1	1	3	1	1	0	2	1	4	1	3	4	2	1	1	4	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:44189204C>T	ENST00000291539.6	+	17	1589	c.1529C>T	c.(1528-1530)gCc>gTc	p.A510V	PDE9A_ENST00000398232.3_Missense_Mutation_p.A443V|PDE9A_ENST00000398236.3_Missense_Mutation_p.A424V|PDE9A_ENST00000398225.3_Missense_Mutation_p.A469V|PDE9A_ENST00000349112.3_Missense_Mutation_p.A382V|PDE9A_ENST00000398229.3_Missense_Mutation_p.A376V|PDE9A_ENST00000328862.6_Missense_Mutation_p.A484V|PDE9A_ENST00000539837.1_Missense_Mutation_p.A382V|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335512.4_Missense_Mutation_p.A450V|PDE9A_ENST00000398224.3_Missense_Mutation_p.A383V|PDE9A_ENST00000380328.2_Missense_Mutation_p.A457V|PDE9A_ENST00000398234.3_Missense_Mutation_p.A409V|PDE9A_ENST00000398227.3_Missense_Mutation_p.A350V|PDE9A_ENST00000335440.6_Missense_Mutation_p.A408V	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	510	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GTGACCAAGGCCACAGCCCAG	0.507																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1528-1530)gCc>gTc		phosphodiesterase 9A							214	168	184					21																	44189204		2203	4300	6503	SO:0001583	missense	5152				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	g.chr21:44189204C>T	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"Phosphodiesterases"	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1529C>T	21.37:g.44189204C>T	ENSP00000291539:p.Ala510Val					PDE9A_ENST00000398236.3_Missense_Mutation_p.A424V|PDE9A_ENST00000380328.2_Missense_Mutation_p.A457V|PDE9A_ENST00000335512.4_Missense_Mutation_p.A450V|PDE9A_ENST00000398232.3_Missense_Mutation_p.A443V|PDE9A_ENST00000398227.3_Missense_Mutation_p.A350V|PDE9A_ENST00000349112.3_Missense_Mutation_p.A382V|PDE9A_ENST00000398229.3_Missense_Mutation_p.A376V|PDE9A_ENST00000328862.6_Missense_Mutation_p.A484V|PDE9A_ENST00000398225.3_Missense_Mutation_p.A469V|PDE9A_ENST00000398234.3_Missense_Mutation_p.A409V|PDE9A_ENST00000539837.1_Missense_Mutation_p.A382V|PDE9A_ENST00000398224.3_Missense_Mutation_p.A383V|PDE9A_ENST00000335440.6_Missense_Mutation_p.A408V|PDE9A_ENST00000470987.1_3'UTR	p.A510V	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN			17	1589	+			510			Catalytic (By similarity).		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	c.1529C>T	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942725	0.73672	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	4.75	4.75	0.60458	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.108656	0.64402	D	0.000005	T	0.80071	0.4556	M	0.80332	2.49	0.46725	D	0.999173	P;B;B;P;P;P;B;P;P;B;P;P;P;B;P	0.47910	0.806;0.383;0.383;0.806;0.902;0.729;0.383;0.583;0.583;0.383;0.806;0.834;0.692;0.383;0.839	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.40636	0.193;0.139;0.139;0.335;0.215;0.156;0.255;0.255;0.255;0.139;0.139;0.215;0.139;0.255;0.292	D	0.85052	0.0929	10	0.72032	D	0.01	.	17.7454	0.88419	0.0:1.0:0.0:0.0	.	443;424;409;484;469;402;450;293;350;376;382;408;457;383;510	O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	V	450;382;510;457;443;409;424;484;408;469;376;350;382;383	ENSP00000335242:A450V;ENSP00000441899:A382V;ENSP00000291539:A510V;ENSP00000369685:A457V;ENSP00000381287:A443V;ENSP00000381289:A409V;ENSP00000381291:A424V;ENSP00000328699:A484V;ENSP00000335365:A408V;ENSP00000381281:A469V;ENSP00000381285:A376V;ENSP00000381283:A350V;ENSP00000344730:A382V;ENSP00000381280:A383V	ENSP00000291539:A510V	A	+	2	0	PDE9A	43062273	1.000000	0.71417	0.990000	0.47175	0.783000	0.44284	7.356000	0.79445	2.190000	0.69967	0.313000	0.20887	GCC		0.507	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			11	7	0	0	0	1	0	11	7					T	44189204	C	T	44189204	3	4	435	1	0	0	0	0	1	0	0	0	11655	739	26	3	1675	3	PDE9A	21	44189204	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	37156	44189204	3940691	8794	29719											
NDUFV3	4731	broad.mit.edu	37	chr21	44323568	44323568	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgggtcggaaagtgaCgtcgccttcgtcttcatcct	6	12	12	11	4	3	1	2	1	1	0	7	2	4	2	2	3	0	0	2	3	1	2	rs370855866		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:44323568C>T	ENST00000340344.4	+	3	235				NDUFV3_ENST00000354250.2_Missense_Mutation_p.T149M|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		CGGAAAGTGACGTCGCCTTCG	0.488																																						ENST00000354250.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(445-447)aCg>aTg		NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NADH(DB00157)	C	,MET/THR	0,4406		0,0,2203	115	118	117		,446	-1.7	0	21		117	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	NDUFV3	NM_001001503.1,NM_021075.3	,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,possibly-damaging	,149/474	44323568	1,13005	2203	4300	6503	SO:0001627	intron_variant	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44323568C>T		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7719	protein-coding gene	gene with protein product	"complex I 10kDa subunit"	602184	"NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-5406C>T	21.37:g.44323568C>T						NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	p.T149M	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	3	515	+			0					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	ENST00000340344.4	37	c.446C>T	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932899	0.52866	0.0	1.16E-4	ENSG00000160194	ENST00000354250	T	0.41400	1.0	5.21	-1.73	0.08081	.	1.124850	0.06662	N	0.764615	T	0.23688	0.0573	L	0.29908	0.895	0.09310	N	1	P	0.34864	0.473	B	0.24701	0.055	T	0.19582	-1.0301	10	0.72032	D	0.01	0.2371	2.3213	0.04211	0.2186:0.2979:0.3381:0.1454	.	149	P56181-2	.	M	149	ENSP00000346196:T149M	ENSP00000346196:T149M	T	+	2	0	NDUFV3	43196637	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.913000	0.01580	-0.316000	0.08690	-0.136000	0.14681	ACG		0.488	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			53	26	0	0	0	1	0	53	26					T	44323568	C	T	44323568	1	4	435	0	1	0	0	0	0	0	0	0	10301	536	19	1		1	NDUFV3	21	44323568	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	134364	44323568	3806327	8795	29720											
HSF2BP	11077	broad.mit.edu	37	chr21	44949656	44949656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacattatgctccagagtgCggagatcttccaggagctcc	10	9	10	12	1	1	2	0	0	1	2	4	4	4	3	3	2	3	2	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:44949656C>T	ENST00000291560.2	-	9	1314	c.983G>A	c.(982-984)cGc>cAc	p.R328H	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R253H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	328					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CTCCAGAGTGCGGAGATCTTC	0.587																																						ENST00000291560.2																			0				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7						c.(982-984)cGc>cAc		heat shock transcription factor 2 binding protein							53	53	53					21																	44949656		2203	4300	6503	SO:0001583	missense	11077				spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding	g.chr21:44949656C>T	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"heat shock factor 2 binding protein"	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.983G>A	21.37:g.44949656C>T	ENSP00000291560:p.Arg328His					HSF2BP_ENST00000542962.1_Missense_Mutation_p.R253H	p.R328H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)	9	1314	-			328					B4DX36	Missense_Mutation	SNP	ENST00000291560.2	37	c.983G>A	CCDS13697.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008415	0.35415	.	.	ENSG00000160207	ENST00000291560;ENST00000542962	T	0.67865	-0.29	5.57	0.619	0.17630	Armadillo-type fold (1);	0.377447	0.28077	N	0.016699	T	0.48840	0.1522	L	0.29908	0.895	0.22199	N	0.99929	B	0.10296	0.003	B	0.06405	0.002	T	0.43081	-0.9413	10	0.62326	D	0.03	-14.9653	7.1069	0.25368	0.0:0.3369:0.0:0.6631	.	328	O75031	HSF2B_HUMAN	H	328;253	ENSP00000291560:R328H	ENSP00000291560:R328H	R	-	2	0	HSF2BP	43774084	0.917000	0.31117	0.238000	0.24106	0.020000	0.10135	1.484000	0.35508	0.183000	0.20059	0.563000	0.77884	CGC		0.587	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	NM_007031		12	9	0	0	0	1	0	12	9					T	44949656	C	T	44949656	3	4	435	1	0	0	0	0	1	0	0	0	7397	768	27	1	25	1	HSF2BP	21	44949656	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	626088	44949656	3180239	8796	29721											
PDXK	8566	broad.mit.edu	37	chr21	45172433	45172433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcactctatgggccccgacaCcgtggtcatcaccagctccg	7	7	10	17	3	3	0	2	0	1	0	4	1	4	0	5	2	1	2	5	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:45172433C>T	ENST00000291565.4	+	8	728	c.545C>T	c.(544-546)aCc>aTc	p.T182I	PDXK_ENST00000468090.1_Missense_Mutation_p.T154I|PDXK_ENST00000467908.1_Missense_Mutation_p.T142I	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	182					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GGCCCCGACACCGTGGTCATC	0.642																																						ENST00000291565.4																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(544-546)aCc>aTc		pyridoxal (pyridoxine, vitamin B6) kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)						122	78	93					21																	45172433		2203	4300	6503	SO:0001583	missense	8566				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	g.chr21:45172433C>T	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"chromosome 21 open reading frame 97", "chromosome 21 open reading frame 124"	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.545C>T	21.37:g.45172433C>T	ENSP00000291565:p.Thr182Ile					PDXK_ENST00000467908.1_Missense_Mutation_p.T142I|PDXK_ENST00000468090.1_Missense_Mutation_p.T154I	p.T182I	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	8	728	+			182					Q7Z2Y0|Q9BS02	Missense_Mutation	SNP	ENST00000291565.4	37	c.545C>T	CCDS13699.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958549	0.53400	.	.	ENSG00000160209	ENST00000468090;ENST00000291565;ENST00000463355;ENST00000467908	T;T;T	0.77750	-1.12;-1.12;-1.12	5.0	5.0	0.66597	Carbohydrate/purine kinase (1);	0.000000	0.85682	D	0.000000	D	0.83128	0.5187	L	0.54323	1.7	0.80722	D	1	B;P;P	0.40376	0.197;0.675;0.715	B;B;P	0.55161	0.346;0.382;0.77	T	0.78380	-0.2226	10	0.19590	T	0.45	-40.0324	18.2893	0.90124	0.0:1.0:0.0:0.0	.	182;154;182	F2Z3F8;O00764-2;O00764	.;.;PDXK_HUMAN	I	154;182;182;142	ENSP00000418359:T154I;ENSP00000291565:T182I;ENSP00000420708:T142I	ENSP00000291565:T182I	T	+	2	0	PDXK	43996861	1.000000	0.71417	0.891000	0.34965	0.497000	0.33675	6.866000	0.75506	2.487000	0.83934	0.530000	0.56133	ACC		0.642	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	NM_003681		15	6	0	0	0	1	0	15	6					T	45172433	C	T	45172433	3	4	435	1	0	0	0	0	1	0	0	0	11697	507	18	3	575	3	PDXK	21	45172433	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	222777	45172433	2957462	8797	29722											
PWP2	5822	broad.mit.edu	37	chr21	45547935	45547935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagggtgcgcgaggcactgCgccagcaggacttcaccagg	8	4	17	12	3	1	0	1	0	0	0	1	3	1	2	2	5	3	2	2	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:45547935C>T	ENST00000291576.7	+	18	2390	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	755					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CGAGGCACTGCGCCAGCAGGA	0.667																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(2263-2265)Cgc>Tgc		PWP2 periodic tryptophan protein homolog (yeast)							33	31	32					21																	45547935		2202	4299	6501	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45547935C>T		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2263C>T	21.37:g.45547935C>T	ENSP00000291576:p.Arg755Cys					PWP2_ENST00000494310.1_3'UTR	p.R755C	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	18	2390	+			755					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.2263C>T	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694763	0.68386	.	.	ENSG00000241945	ENST00000291576	T	0.59364	0.27	4.47	3.57	0.40892	.	0.294543	0.34133	N	0.004240	T	0.60130	0.2245	M	0.78637	2.42	0.41254	D	0.986735	D	0.71674	0.998	P	0.46825	0.528	T	0.64816	-0.6318	10	0.59425	D	0.04	-5.7151	8.4844	0.33063	0.1504:0.7672:0.0:0.0824	.	755	Q15269	PWP2_HUMAN	C	755	ENSP00000291576:R755C	ENSP00000291576:R755C	R	+	1	0	PWP2	44372363	0.985000	0.35326	0.869000	0.34112	0.939000	0.58152	0.812000	0.27211	1.172000	0.42781	0.655000	0.94253	CGC		0.667	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		5	18	0	0	0	1	0	5	18					T	45547935	C	T	45547935	3	4	435	1	0	0	0	0	1	0	0	0	12844	768	27	1	2333	1	PWP2	21	45547935	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	375502	45547935	2581960	8798	29723											
TRPM2	7226	broad.mit.edu	37	chr21	45773734	45773734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggctacagtgccccttcGgcaacaatgacaaggtaggc	11	6	13	11	1	0	1	0	1	0	0	1	2	0	2	2	5	3	3	2	5	5	3	rs369318694		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:45773734G>A	ENST00000397928.1	+	1	596	c.151G>A	c.(151-153)Ggc>Agc	p.G51S	TRPM2_ENST00000300482.5_Missense_Mutation_p.G51S|TRPM2_ENST00000300481.9_Missense_Mutation_p.G51S|TRPM2_ENST00000397932.2_Missense_Mutation_p.G51S	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	51					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GTGCCCCTTCGGCAACAATGA	0.607																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(151-153)Ggc>Agc		transient receptor potential cation channel, subfamily M, member 2		G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	42	34	37		151	0.4	0	21		37	0,8600		0,0,4300	no	missense	TRPM2	NM_003307.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	51/1504	45773734	1,13005	2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45773734G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.151G>A	21.37:g.45773734G>A	ENSP00000381023:p.Gly51Ser					TRPM2_ENST00000397932.2_Missense_Mutation_p.G51S|TRPM2_ENST00000300481.9_Missense_Mutation_p.G51S|TRPM2_ENST00000300482.5_Missense_Mutation_p.G51S	p.G51S	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			1	596	+			51					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.151G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	2.719	-0.266988	0.05754	2.27E-4	0.0	ENSG00000142185	ENST00000300482;ENST00000431901;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T;T	0.50813	0.84;1.01;0.84;0.86;0.73	4.01	0.401	0.16338	.	0.853340	0.10017	N	0.726481	T	0.23649	0.0572	N	0.08118	0	0.19945	N	0.999948	B;B	0.16166	0.016;0.004	B;B	0.08055	0.003;0.001	T	0.20207	-1.0282	10	0.24483	T	0.36	-14.3202	6.4771	0.22043	0.4273:0.0:0.5727:0.0	.	51;51	E9PGK7;O94759	.;TRPM2_HUMAN	S	51	ENSP00000300482:G51S;ENSP00000393982:G51S;ENSP00000381023:G51S;ENSP00000300481:G51S;ENSP00000381026:G51S	ENSP00000300481:G51S	G	+	1	0	TRPM2	44598162	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.262000	0.08682	-0.308000	0.08792	0.561000	0.74099	GGC		0.607	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		5	4	0	0	0	1	0	5	4					A	45773734	G	A	45773734	3	1	435	1	0	0	0	0	1	0	0	0	16583	1116	39	2	153	2	TRPM2	21	45773734	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	225799	45773734	2356161	8799	29724											
TRPM2	7226	broad.mit.edu	37	chr21	45784133	45784133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgcctttggcgacatcGtcttcacgggcctgagccag	6	9	12	14	4	2	1	1	1	1	0	3	3	2	1	4	2	2	0	4	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:45784133G>A	ENST00000397928.1	+	3	836	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	TRPM2_ENST00000300482.5_Missense_Mutation_p.V131I|TRPM2_ENST00000300481.9_Missense_Mutation_p.V131I|TRPM2_ENST00000397932.2_Missense_Mutation_p.V131I	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	131					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGGCGACATCGTCTTCACGGG	0.577																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(391-393)Gtc>Atc		transient receptor potential cation channel, subfamily M, member 2							180	140	154					21																	45784133		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45784133G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.391G>A	21.37:g.45784133G>A	ENSP00000381023:p.Val131Ile					TRPM2_ENST00000397932.2_Missense_Mutation_p.V131I|TRPM2_ENST00000300481.9_Missense_Mutation_p.V131I|TRPM2_ENST00000300482.5_Missense_Mutation_p.V131I	p.V131I	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			3	836	+			131					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.391G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	7.246	0.602339	0.13939	.	.	ENSG00000142185	ENST00000300482;ENST00000431901;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	4.18	3.29	0.37713	.	0.564837	0.18220	N	0.147907	T	0.34658	0.0905	L	0.53249	1.67	0.22280	N	0.999232	P;P	0.46277	0.743;0.875	B;B	0.27500	0.08;0.08	T	0.37454	-0.9705	10	0.44086	T	0.13	-25.2883	4.5024	0.11870	0.2788:0.1826:0.5386:0.0	.	131;131	E9PGK7;O94759	.;TRPM2_HUMAN	I	131	ENSP00000300482:V131I;ENSP00000393982:V131I;ENSP00000381023:V131I;ENSP00000300481:V131I;ENSP00000381026:V131I	ENSP00000300481:V131I	V	+	1	0	TRPM2	44608561	0.007000	0.16637	0.865000	0.33974	0.092000	0.18411	1.757000	0.38400	0.727000	0.32360	0.462000	0.41574	GTC		0.577	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		21	15	0	0	0	1	0	21	15					A	45784133	G	A	45784133	3	1	435	1	0	0	0	0	1	0	0	0	16583	1145	40	1	401	1	TRPM2	21	45784133	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10399	45784133	2345762	8800	29725											
C21orf29	54084	broad.mit.edu	37	chr21	45941817	45941817	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagtcggatgtagaggtgCgagtgcaccttggtggaggt	8	9	19	5	2	0	1	0	0	0	1	1	5	0	4	1	6	2	2	1	6	1	2	rs150444121		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:45941817C>T	ENST00000323084.4	-	9	1580	c.1515G>A	c.(1513-1515)tcG>tcA	p.S505S	TSPEAR_ENST00000397916.1_Silent_p.S437S|C21orf90_ENST00000465978.1_Intron	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	505					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TGTAGAGGTGCGAGTGCACCT	0.642													c|||	1	0.000199681	0	0	5008	,	,		17606	0		0.001	False		,,,				2504	0					ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(1513-1515)tcG>tcA		thrombospondin-type laminin G domain and EAR repeats		C		1,4405	2.1+/-5.4	0,1,2202	132	126	128		1515	-9.5	0.2	21	dbSNP_134	128	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	TSPEAR	NM_144991.2		0,8,6495	TT,TC,CC		0.0814,0.0227,0.0615		505/670	45941817	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45941817C>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1515G>A	21.37:g.45941817C>T						C21orf90_ENST00000465978.1_Intron|TSPEAR_ENST00000397916.1_Silent_p.S437S	p.S505S	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			9	1580	-			505						Silent	SNP	ENST00000323084.4	37	c.1515G>A	CCDS13712.1																																																																																				0.642	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		23	7	0	0	0	1	0	23	7					T	45941817	C	T	45941817	2	4	435	1	0	0	0	0	0	0	0	1	2124	755	27	1		1	C21orf29	21	45941817	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	157684	45941817	2188078	8801	29726											
KRTAP10-1	386677	broad.mit.edu	37	chr21	45960029	45960029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agacggacatggtggacgcgGccatgctggggtggggagga	8	5	21	7	3	0	1	0	0	0	1	0	5	0	5	1	9	1	1	1	9	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:45960029G>A	ENST00000400375.1	-	1	49	c.5C>T	c.(4-6)gCc>gTc	p.A2V	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	2				A -> T (in Ref. 3; AAI20960). {ECO:0000305}.		keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGTGGACGCGGCCATGCTGGG	0.637																																						ENST00000400375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(4-6)gCc>gTc		keratin associated protein 10-1							87	93	91					21																	45960029		2203	4300	6503	SO:0001583	missense	386677					keratin filament		g.chr21:45960029G>A	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"Keratin associated proteins"	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.5C>T	21.37:g.45960029G>A	ENSP00000383226:p.Ala2Val					TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.A2V	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN			1	49	-			2	A -> T (in Ref. 3; AAI20960).				Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	c.5C>T	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	g	8.543	0.873622	0.17322	.	.	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.52526	0.66	3.71	3.71	0.42584	.	.	.	.	.	T	0.65801	0.2726	M	0.71920	2.185	0.18873	N	0.999987	D	0.76494	0.999	D	0.75484	0.986	T	0.54977	-0.8212	9	0.87932	D	0	.	11.3191	0.49410	0.0:0.0:1.0:0.0	.	2	P60331	KR101_HUMAN	V	2	ENSP00000383226:A2V	ENSP00000383226:A2V	A	-	2	0	KRTAP10-1	44784457	0.873000	0.30073	0.091000	0.20842	0.060000	0.15804	2.352000	0.44080	1.784000	0.52394	0.313000	0.20887	GCC		0.637	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			31	10	0	0	0	1	0	31	10					A	45960029	G	A	45960029	3	1	435	1	0	0	0	0	1	0	0	0	8505	1203	42	3	847	3	KRTAP10-1	21	45960029	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18212	45960029	2169866	8802	29727											
ADARB1	104	broad.mit.edu	37	chr21	46624623	46624623	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaggacctgccacctctCtacaccctcaacaagccttt	11	9	5	16	0	2	1	1	0	1	1	3	2	2	2	5	1	4	0	5	1	4	3	rs141463450	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:46624623C>A	ENST00000360697.3	+	8	1854	c.1839C>A	c.(1837-1839)ctC>ctA	p.L613L	ADARB1_ENST00000389863.4_Silent_p.L613L|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000348831.4_Silent_p.L573L|ADARB1_ENST00000539173.1_Silent_p.L613L			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	613	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TGCCACCTCTCTACACCCTCA	0.478																																						ENST00000539173.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17						c.(1837-1839)ctC>ctA		adenosine deaminase, RNA-specific, B1							120	103	109					21																	46624623		2203	4300	6503	SO:0001819	synonymous_variant	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46624623C>A	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"RED1 homolog (rat)"	601218	"adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.1839C>A	21.37:g.46624623C>A						ADARB1_ENST00000389863.4_Silent_p.L613L|ADARB1_ENST00000360697.3_Silent_p.L613L|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000348831.4_Silent_p.L573L	p.L613L	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN		Colorectal(79;0.115)	10	2274	+			613			A to I editase.		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Silent	SNP	ENST00000360697.3	37	c.1839C>A	CCDS33589.1																																																																																				0.478	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		19	9	1	0	1.55795e-14	1	1.69983e-14	19	9					A	46624623	C	A	46624623	2	1	435	1	0	0	0	0	0	0	0	1	282	900	32	5		5	ADARB1	21	46624623	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	664594	46624623	1505272	8803	29728											
COL18A1	80781	broad.mit.edu	37	chr21	46888394	46888394	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgccatcacggactcggcGcaggccatggtcttgctggg	5	9	14	13	4	2	0	1	0	1	0	4	1	2	1	2	5	1	2	2	5	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:46888394G>A	ENST00000359759.4	+	2	1611	c.1590G>A	c.(1588-1590)gcG>gcA	p.A530A	COL18A1_ENST00000400337.2_Silent_p.A115A|COL18A1_ENST00000355480.5_Silent_p.A295A			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	530	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			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)		CGGACTCGGCGCAGGCCATGG	0.632																																						ENST00000359759.4																			0				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						c.(1588-1590)gcG>gcA		collagen, type XVIII, alpha 1							70	83	78					21																	46888394		2151	4250	6401	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46888394G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1590G>A	21.37:g.46888394G>A						COL18A1_ENST00000400337.2_Silent_p.A115A|COL18A1_ENST00000355480.5_Silent_p.A295A	p.A530A			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	2	1611	+			530			TSP N-terminal.		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.1590G>A																																																																																					0.632	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			23	8	0	0	0	1	0	23	8					A	46888394	G	A	46888394	2	1	435	1	0	0	0	0	0	0	0	1	3675	1074	38	1		1	COL18A1	21	46888394	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	263771	46888394	1241501	8804	29729											
COL18A1	80781	broad.mit.edu	37	chr21	46907409	46907409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggtcaacagcccgaagcGctgatgggccacaggtagtg	9	7	14	11	2	2	1	1	1	1	0	2	2	2	1	2	3	3	2	2	3	3	1	rs181012655	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:46907409G>A	ENST00000359759.4	+	16	3148	c.3127G>A	c.(3127-3129)Gct>Act	p.A1043T	COL18A1_ENST00000400337.2_Missense_Mutation_p.A628T|COL18A1_ENST00000355480.5_Missense_Mutation_p.A808T			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1043	Nonhelical region 4 (NC4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			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)		AGCCCGAAGCGCTGATGGGCC	0.642													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		3420	0		0	False		,,,				2504	0					ENST00000359759.4																			0				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						c.(3127-3129)Gct>Act		collagen, type XVIII, alpha 1		G	THR/ALA,THR/ALA	7,4057		0,7,2025	50	57	55		2422,1882	-2.8	0	21		55	0,8354		0,0,4177	yes	missense,missense	COL18A1	NM_030582.3,NM_130445.2	58,58	0,7,6202	AA,AG,GG		0.0,0.1722,0.0564	possibly-damaging,possibly-damaging	808/1520,628/1340	46907409	7,12411	2032	4177	6209	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46907409G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3127G>A	21.37:g.46907409G>A	ENSP00000352798:p.Ala1043Thr					COL18A1_ENST00000400337.2_Missense_Mutation_p.A628T|COL18A1_ENST00000355480.5_Missense_Mutation_p.A808T	p.A1043T			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	16	3148	+			1043			Nonhelical region 4 (NC4).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.3127G>A		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	12.63	1.994197	0.35226	0.001722	0.0	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.93604	-3.25;-3.25;-3.25	4.01	-2.83	0.05769	.	2.790810	0.02267	U	0.068065	D	0.83473	0.5262	N	0.20483	0.58	0.09310	N	1	B;B;B	0.33748	0.423;0.37;0.168	B;B;B	0.21151	0.033;0.02;0.02	T	0.76539	-0.2922	10	0.09338	T	0.73	.	7.6133	0.28144	0.1112:0.0:0.6535:0.2352	.	1043;808;628	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	T	628;628;808;1043;1043	ENSP00000383191:A628T;ENSP00000347665:A808T;ENSP00000352798:A1043T	ENSP00000347665:A808T	A	+	1	0	COL18A1	45731837	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.510000	0.06328	-0.312000	0.08741	-0.397000	0.06425	GCT		0.642	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			24	11	0	0	0	1	0	24	11					A	46907409	G	A	46907409	3	1	435	1	0	0	0	0	1	0	0	0	3675	1087	38	1	3303	1	COL18A1	21	46907409	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19015	46907409	1222486	8805	29730											
SLC19A1	6573	broad.mit.edu	37	chr21	46951819	46951819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgctggtagcgcgcgggccGcacgagagagaagatgtagg	10	4	18	9	6	0	3	0	0	0	3	0	5	0	3	1	3	1	4	1	3	3	2	rs375248262		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:46951819G>A	ENST00000311124.4	-	3	585	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	SLC19A1_ENST00000567670.1_Missense_Mutation_p.R145W|SLC19A1_ENST00000485649.2_Missense_Mutation_p.R105W|SLC19A1_ENST00000380010.4_Missense_Mutation_p.R145W	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	145					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	CGCGCGGGCCGCACGAGAGAG	0.672																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(433-435)Cgg>Tgg		solute carrier family 19 (folate transporter), member 1		G	TRP/ARG,TRP/ARG,TRP/ARG	0,4352		0,0,2176	20	20	20		433,313,433	-3.4	0	21		20	1,8567		0,1,4283	no	missense,missense,missense	SLC19A1	NM_001205206.1,NM_001205207.1,NM_194255.2	101,101,101	0,1,6459	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	145/490,105/552,145/592	46951819	1,12919	2176	4284	6460	SO:0001583	missense	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951819G>A	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"Solute carriers"	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.433C>T	21.37:g.46951819G>A	ENSP00000308895:p.Arg145Trp					SLC19A1_ENST00000380010.4_Missense_Mutation_p.R145W|SLC19A1_ENST00000567670.1_Missense_Mutation_p.R145W|SLC19A1_ENST00000485649.2_Missense_Mutation_p.R105W	p.R145W	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	585	-			145					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.433C>T	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905629	0.33628	0.0	1.17E-4	ENSG00000173638	ENST00000311124;ENST00000380010;ENST00000485649;ENST00000427839;ENST00000443742	T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;0.27;0.35	4.95	-3.38	0.04883	Major facilitator superfamily domain, general substrate transporter (1);	1.132380	0.06447	N	0.726989	T	0.82015	0.4945	L	0.51422	1.61	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.68765	0.96;0.96;0.932;0.96	T	0.69803	-0.5046	10	0.72032	D	0.01	-9.1009	1.7831	0.03036	0.2338:0.1038:0.1676:0.4948	.	105;167;145;145	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	W	145;145;105;145;145	ENSP00000308895:R145W;ENSP00000369347:R145W;ENSP00000441772:R105W;ENSP00000401850:R145W;ENSP00000411345:R145W	ENSP00000308895:R145W	R	-	1	2	SLC19A1	45776247	0.011000	0.17503	0.001000	0.08648	0.001000	0.01503	0.431000	0.21444	-0.307000	0.08804	-0.521000	0.04368	CGG		0.672	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			6	0	0	0	0	1	0	6	0					A	46951819	G	A	46951819	3	1	435	1	0	0	0	0	1	0	0	0	14428	1086	38	1	1358	1	SLC19A1	21	46951819	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44410	46951819	1178076	8806	29731											
COL6A2	1292	broad.mit.edu	37	chr21	47552194	47552194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgccatcaatgccatcgtgCgcagcccgcgtggcggggcc	6	5	14	16	6	1	0	1	0	0	0	2	0	1	0	4	3	3	1	4	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:47552194C>T	ENST00000300527.4	+	28	2892	c.2788C>T	c.(2788-2790)Cgc>Tgc	p.R930C		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	930	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGCCATCGTGCGCAGCCCGCG	0.667																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2788-2790)Cgc>Tgc		collagen, type VI, alpha 2							25	27	26					21																	47552194		2199	4297	6496	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47552194C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2788C>T	21.37:g.47552194C>T	ENSP00000300527:p.Arg930Cys						p.R930C	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	2892	+	Breast(49;0.245)		930			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2788C>T	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	5.318	0.243980	0.10077	.	.	ENSG00000142173	ENST00000300527	D	0.83914	-1.78	4.18	0.873	0.19118	von Willebrand factor, type A (3);	2.456540	0.02146	U	0.057573	T	0.80747	0.4682	L	0.34521	1.04	0.09310	N	1	P	0.52170	0.951	P	0.47645	0.553	T	0.70029	-0.4984	10	0.56958	D	0.05	-0.3515	9.3015	0.37849	0.2016:0.573:0.2253:0.0	.	930	P12110	CO6A2_HUMAN	C	930	ENSP00000300527:R930C	ENSP00000300527:R930C	R	+	1	0	COL6A2	46376622	0.116000	0.22171	0.015000	0.15790	0.008000	0.06430	1.099000	0.31013	0.715000	0.32103	0.313000	0.20887	CGC		0.667	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			3	1	0	0	0	1	0	3	1					T	47552194	C	T	47552194	3	4	435	1	0	0	0	0	1	0	0	0	3700	768	27	1	3224	1	COL6A2	21	47552194	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	600375	47552194	577701	8807	29732											
FTCD	10841	broad.mit.edu	37	chr21	47556899	47556899	+	3'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagaggcctcccgcacCgtcactcctgccgggtctcc	4	6	11	20	4	2	1	1	0	1	1	5	2	4	1	7	3	1	1	7	3	0	0	rs200850490		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:47556899C>T	ENST00000291670.5	-	0	1671				FTCD_ENST00000359679.2_Silent_p.T536T|FTCD_ENST00000397748.1_Silent_p.T536T|FTCD_ENST00000397746.3_3'UTR|FTCD_ENST00000397743.1_3'UTR|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_3'UTR	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase						cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	CCTCCCGCACCGTCACTCCTG	0.657																																						ENST00000397748.1																			0				endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19						c.(1606-1608)acG>acA		formimidoyltransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	C	,	1,4405	2.1+/-5.4	0,1,2202	54	51	52		,	-2.2	0	21		52	0,8600		0,0,4300	yes	utr-3,utr-3	FTCD	NM_006657.2,NM_206965.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	,	47556899	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47556899C>T	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"formiminotransferase cyclodeaminase"			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.*2G>A	21.37:g.47556899C>T						FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000359679.2_Silent_p.T536T|FTCD_ENST00000291670.5_3'UTR|FTCD_ENST00000397746.3_3'UTR|FTCD_ENST00000355384.2_3'UTR|FTCD_ENST00000397743.1_3'UTR	p.T536T			O95954	FTCD_HUMAN		Colorectal(79;0.235)	14	1651	-	Breast(49;0.214)		43			Cyclodeaminase/cyclohydrolase (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Silent	SNP	ENST00000291670.5	37	c.1608G>A	CCDS13731.1	.	.	.	.	.	.	.	.	.	.	C	1.631	-0.518942	0.04171	2.27E-4	0.0	ENSG00000160282	ENST00000446405	.	.	.	1.9	-2.23	0.06930	.	.	.	.	.	T	0.21590	0.0520	.	.	.	0.21290	N	0.999735	.	.	.	.	.	.	T	0.27739	-1.0065	4	.	.	.	.	4.3096	0.10964	0.0:0.2278:0.1969:0.5753	.	.	.	.	Q	77	.	.	R	-	2	0	FTCD	46381327	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.274000	0.01163	-0.753000	0.04721	-0.834000	0.03071	CGG		0.657	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		9	1	0	0	0	1	0	9	1					T	47556899	C	T	47556899	1	4	435	0	1	0	0	0	0	0	0	0	6081	666	23	2		2	FTCD	21	47556899	3'UTR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4705	47556899	572996	8808	29733											
MCM3AP	8888	broad.mit.edu	37	chr21	47674369	47674369	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaccagcttccaaaacAcatgctcctgcctcccaggg	10	6	7	18	0	0	0	0	0	0	0	3	0	3	0	6	1	5	3	6	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:47674369A>G	ENST00000397708.1	-	20	4327	c.4073T>C	c.(4072-4074)gTg>gCg	p.V1358A	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|AP001469.9_ENST00000430259.1_RNA|AP001469.9_ENST00000447037.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.V1358A			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1358					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			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)					CTTCCAAAACACATGCTCCTG	0.597																																						ENST00000397708.1																			0				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						c.(4072-4074)gTg>gCg		minichromosome maintenance complex component 3 associated protein							93	79	83					21																	47674369		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47674369A>G	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4073T>C	21.37:g.47674369A>G	ENSP00000380820:p.Val1358Ala					MCM3AP_ENST00000291688.1_Missense_Mutation_p.V1358A|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA	p.V1358A			O60318	MCM3A_HUMAN			20	4327	-	Breast(49;0.112)		1358					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.4073T>C	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	A	9.642	1.139149	0.21205	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.48836	0.8;0.8	5.22	1.31	0.21738	.	0.537315	0.20664	N	0.087980	T	0.39172	0.1068	M	0.65975	2.015	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.29882	-0.9997	10	0.34782	T	0.22	-1.6106	4.2229	0.10567	0.6768:0.1299:0.0691:0.1243	.	1358	O60318	MCM3A_HUMAN	A	1358	ENSP00000380820:V1358A;ENSP00000291688:V1358A	ENSP00000291688:V1358A	V	-	2	0	MCM3AP	46498797	0.147000	0.22687	0.020000	0.16555	0.504000	0.33889	3.523000	0.53488	-0.021000	0.14009	0.533000	0.62120	GTG		0.597	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		12	4	0	0	0	1	0	12	4					G	47674369	A	G	47674369	3	3	435	1	0	0	0	0	1	0	0	0	9388	159	6	4	1909	4	MCM3AP	21	47674369	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	117470	47674369	455526	8809	29734											
MCM3AP	8888	broad.mit.edu	37	chr21	47697477	47697477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctctctggtcaagcaggcGgtacttctccttggatgtct	5	14	11	11	1	5	0	1	0	4	0	7	1	5	1	1	4	2	2	1	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:47697477G>A	ENST00000397708.1	-	6	2076	c.1822C>T	c.(1822-1824)Cgc>Tgc	p.R608C	MCM3AP_ENST00000291688.1_Missense_Mutation_p.R608C			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	608					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			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)					TCAAGCAGGCGGTACTTCTCC	0.592																																						ENST00000397708.1																			0				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						c.(1822-1824)Cgc>Tgc		minichromosome maintenance complex component 3 associated protein							164	132	143					21																	47697477		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47697477G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1822C>T	21.37:g.47697477G>A	ENSP00000380820:p.Arg608Cys					MCM3AP_ENST00000291688.1_Missense_Mutation_p.R608C	p.R608C			O60318	MCM3A_HUMAN			6	2076	-	Breast(49;0.112)		608					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.1822C>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827009	0.90955	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.05025	3.51;3.51	5.74	5.74	0.90152	.	0.046970	0.85682	D	0.000000	T	0.23611	0.0571	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.00034	-1.2264	10	0.87932	D	0	-21.2632	16.2065	0.82133	0.0:0.0:0.8665:0.1335	.	608	O60318	MCM3A_HUMAN	C	608	ENSP00000380820:R608C;ENSP00000291688:R608C	ENSP00000291688:R608C	R	-	1	0	MCM3AP	46521905	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.406000	0.73276	2.715000	0.92844	0.655000	0.94253	CGC		0.592	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		40	11	0	0	0	1	0	40	11					A	47697477	G	A	47697477	3	1	435	1	0	0	0	0	1	0	0	0	9388	1116	39	2	4216	2	MCM3AP	21	47697477	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23108	47697477	432418	8810	29735											
MCM3AP	8888	broad.mit.edu	37	chr21	47704923	47704923	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggcccagaggtagccacaAaggtggaagtgtgctcaagt	13	6	14	8	0	1	1	1	0	0	1	1	2	1	2	2	4	2	2	2	4	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:47704923A>G	ENST00000397708.1	-	2	532	c.278T>C	c.(277-279)tTt>tCt	p.F93S	YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000397701.4_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.F93S|YBEY_ENST00000339195.6_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	93	FG-repeats.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			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)					GGTAGCCACAAAGGTGGAAGT	0.483																																						ENST00000397708.1																			0				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						c.(277-279)tTt>tCt		minichromosome maintenance complex component 3 associated protein							93	89	90					21																	47704923		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47704923A>G	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.278T>C	21.37:g.47704923A>G	ENSP00000380820:p.Phe93Ser					MCM3AP_ENST00000291688.1_Missense_Mutation_p.F93S	p.F93S			O60318	MCM3A_HUMAN			2	532	-	Breast(49;0.112)		93					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.278T>C	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932865	0.52866	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000426537	T;T	0.04603	3.59;3.59	5.37	4.15	0.48705	.	0.248338	0.39759	N	0.001269	T	0.03434	0.0099	L	0.27053	0.805	0.09310	N	1	B	0.23442	0.085	B	0.19391	0.025	T	0.34625	-0.9821	10	0.62326	D	0.03	-15.1186	3.2331	0.06755	0.6733:0.0:0.1316:0.195	.	93	O60318	MCM3A_HUMAN	S	93	ENSP00000380820:F93S;ENSP00000291688:F93S	ENSP00000291688:F93S	F	-	2	0	MCM3AP	46529351	1.000000	0.71417	0.391000	0.26233	0.872000	0.50106	4.257000	0.58816	2.026000	0.59711	0.459000	0.35465	TTT		0.483	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		15	5	0	0	0	1	0	15	5					G	47704923	A	G	47704923	3	3	435	1	0	0	0	0	1	0	0	0	9388	14	1	4	5776	4	MCM3AP	21	47704923	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	7446	47704923	424972	8811	29736											
PCNT	5116	broad.mit.edu	37	chr21	47821621	47821621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacacagagagcactcctgCggcgcgagagcgaggtgagt	10	5	16	10	4	0	4	0	2	0	2	1	7	1	4	1	2	3	1	1	2	0	0	rs201187205		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:47821621C>T	ENST00000359568.5	+	26	5055	c.4948C>T	c.(4948-4950)Cgg>Tgg	p.R1650W	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1650					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				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)					AGCACTCCTGCGGCGCGAGAG	0.602													C|||	1	0.000199681	0	0	5008	,	,		13303	0		0.001	False		,,,				2504	0					ENST00000359568.5																			0				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						c.(4948-4950)Cgg>Tgg		pericentrin							66	63	64					21																	47821621		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47821621C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4948C>T	21.37:g.47821621C>T	ENSP00000352572:p.Arg1650Trp					PCNT_ENST00000480896.1_3'UTR	p.R1650W	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			26	5055	+	Breast(49;0.112)		1650					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.4948C>T	CCDS33592.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.04	3.008780	0.54361	.	.	ENSG00000160299	ENST00000359568	T	0.58797	0.31	5.43	3.42	0.39159	.	0.792238	0.09987	N	0.730183	T	0.45617	0.1351	L	0.39245	1.2	0.09310	N	1	P;P	0.44044	0.825;0.733	B;B	0.33890	0.172;0.083	T	0.44467	-0.9326	10	0.72032	D	0.01	.	11.545	0.50688	0.3177:0.6823:0.0:0.0	.	1532;1650	O95613-2;O95613	.;PCNT_HUMAN	W	1650	ENSP00000352572:R1650W	ENSP00000352572:R1650W	R	+	1	2	PCNT	46646049	0.000000	0.05858	0.028000	0.17463	0.004000	0.04260	0.190000	0.17057	2.543000	0.85770	0.655000	0.94253	CGG		0.602	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		15	8	0	0	0	1	0	15	8					T	47821621	C	T	47821621	3	4	435	1	0	0	0	0	1	0	0	0	11590	759	27	1	5050	1	PCNT	21	47821621	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	116698	47821621	308274	8812	29737											
PCNT	5116	broad.mit.edu	37	chr21	47851715	47851715	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaggacacaggaggcttgCgtgcaccaggacacacaggc	12	3	14	12	1	0	1	0	0	0	1	0	4	0	4	1	5	2	2	1	5	0	1	rs572339918		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:47851715C>T	ENST00000359568.5	+	38	8444	c.8337C>T	c.(8335-8337)tgC>tgT	p.C2779C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2779					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.C2779C(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)					AGGAGGCTTGCGTGCACCAGG	0.627													C|||	1	0.000199681	8e-04	0	5008	,	,		19408	0		0	False		,,,				2504	0					ENST00000359568.5																			1	Substitution - coding silent(1)	p.C2779C(1)	large_intestine(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						c.(8335-8337)tgC>tgT		pericentrin							35	36	35					21																	47851715		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47851715C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8337C>T	21.37:g.47851715C>T						PCNT_ENST00000480896.1_3'UTR	p.C2779C	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			38	8444	+	Breast(49;0.112)		2779					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.8337C>T	CCDS33592.1																																																																																				0.627	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		5	6	0	0	0	1	0	5	6					T	47851715	C	T	47851715	2	4	435	1	0	0	0	0	0	0	0	1	11590	776	27	1		1	PCNT	21	47851715	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30094	47851715	278180	8813	29738											
PCNT	5116	broad.mit.edu	37	chr21	47855835	47855835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgagaattagaactgcagCgtcagcgtgacttgcataag	13	8	12	8	3	1	3	1	1	0	2	1	4	1	3	0	0	6	2	0	0	4	3	rs559208618		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:47855835C>T	ENST00000359568.5	+	39	8877	c.8770C>T	c.(8770-8772)Cgt>Tgt	p.R2924C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2924					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				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)					AGAACTGCAGCGTCAGCGTGA	0.532													C|||	1	0.000199681	8e-04	0	5008	,	,		19077	0		0	False		,,,				2504	0					ENST00000359568.5																			0				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						c.(8770-8772)Cgt>Tgt		pericentrin							71	75	74					21																	47855835		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47855835C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8770C>T	21.37:g.47855835C>T	ENSP00000352572:p.Arg2924Cys					PCNT_ENST00000480896.1_3'UTR	p.R2924C	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			39	8877	+	Breast(49;0.112)		2924					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.8770C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223298	0.39300	.	.	ENSG00000160299	ENST00000359568	T	0.01745	4.66	5.58	4.7	0.59300	.	.	.	.	.	T	0.01730	0.0055	L	0.29908	0.895	0.34542	D	0.710404	P;P	0.51057	0.941;0.902	B;B	0.37239	0.244;0.124	T	0.56890	-0.7904	9	0.87932	D	0	.	11.4299	0.50034	0.0:0.9176:0.0:0.0824	.	2727;2924	O95613-2;O95613	.;PCNT_HUMAN	C	2924	ENSP00000352572:R2924C	ENSP00000352572:R2924C	R	+	1	0	PCNT	46680263	0.985000	0.35326	0.923000	0.36655	0.540000	0.34992	1.255000	0.32909	1.353000	0.45828	0.467000	0.42956	CGT		0.532	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		44	25	0	0	0	1	0	44	25					T	47855835	C	T	47855835	3	4	435	1	0	0	0	0	1	0	0	0	11590	768	27	1	8924	1	PCNT	21	47855835	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4120	47855835	274060	8814	29739											
DIP2A	23181	broad.mit.edu	37	chr21	47959821	47959821	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtgacgccttcctcaaCgtcttccagtccagaggtct	6	12	8	15	2	3	2	1	1	2	1	7	2	7	2	5	1	1	0	5	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:47959821C>T	ENST00000417564.2	+	17	1974	c.1953C>T	c.(1951-1953)aaC>aaT	p.N651N	DIP2A_ENST00000400274.1_Silent_p.N647N|DIP2A_ENST00000466639.1_Silent_p.N608N|DIP2A_ENST00000435722.3_Silent_p.N651N|DIP2A_ENST00000427143.2_Silent_p.N587N|DIP2A_ENST00000457905.3_Silent_p.N651N|DIP2A_ENST00000318711.7_Silent_p.N652N			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	651					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			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)		CCTTCCTCAACGTCTTCCAGT	0.587																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1954-1956)aaC>aaT		DIP2 disco-interacting protein 2 homolog A (Drosophila)							146	155	152					21																	47959821		2131	4226	6357	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47959821C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1953C>T	21.37:g.47959821C>T						DIP2A_ENST00000427143.2_Silent_p.N587N|DIP2A_ENST00000400274.1_Silent_p.N647N|DIP2A_ENST00000466639.1_Silent_p.N608N|DIP2A_ENST00000457905.3_Silent_p.N651N|DIP2A_ENST00000435722.3_Silent_p.N651N|DIP2A_ENST00000417564.2_Silent_p.N651N	p.N652N	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		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)	17	2139	+	Breast(49;0.0933)		651					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.1956C>T	CCDS46655.1																																																																																				0.587	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		28	22	0	0	0	1	0	28	22					T	47959821	C	T	47959821	2	4	435	1	0	0	0	0	0	0	0	1	4527	535	19	1		1	DIP2A	21	47959821	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	103986	47959821	170074	8815	29740											
POTEH	23784	broad.mit.edu	37	chr22	16287624	16287624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtgtcttcatagcagaatCgtcgtggtctccagaagtgc	9	11	12	9	2	3	2	1	0	2	2	6	3	3	2	1	1	2	1	1	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:16287624C>T	ENST00000343518.6	-	1	313	c.262G>A	c.(262-264)Gat>Aat	p.D88N		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	88										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ATAGCAGAATCGTCGTGGTCT	0.607																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(262-264)Gat>Aat		POTE ankyrin domain family, member H							57	67	64					22																	16287624		1820	3476	5296	SO:0001583	missense	23784							g.chr22:16287624C>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.262G>A	22.37:g.16287624C>T	ENSP00000340610:p.Asp88Asn						p.D88N	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	313	-			88					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.262G>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	10.81	1.456809	0.26161	.	.	ENSG00000198062	ENST00000343518;ENST00000355872	T	0.36340	1.26	.	.	.	.	.	.	.	.	T	0.31136	0.0787	L	0.40543	1.245	0.09310	N	1	D	0.53312	0.959	P	0.47705	0.555	T	0.14811	-1.0459	7	0.37606	T	0.19	.	.	.	.	.	88	Q6S545	POTEH_HUMAN	N	88	ENSP00000340610:D88N	ENSP00000340610:D88N	D	-	1	0	POTEH	14667624	0.004000	0.15560	0.011000	0.14972	0.011000	0.07611	0.240000	0.18042	0.149000	0.19098	0.152000	0.16155	GAT		0.607	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		8	301	0	0	0	1	0	8	301					T	16287624	C	T	16287624	3	4	435	1	0	0	0	0	1	0	0	0	12267	884	31	2	1415	2	POTEH	22	16287624	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08		16287624	35016942	8816	29741											
POTEH	23784	broad.mit.edu	37	chr22	16287735	16287735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtgtcttcatagcagaatCgtcgtggtctccagaagtgc	9	11	12	9	2	3	2	1	0	2	2	6	3	3	2	1	1	2	1	1	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:16287735C>T	ENST00000343518.6	-	1	202	c.151G>A	c.(151-153)Gat>Aat	p.D51N		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	51										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ATAGCAGAATCGTCGTGGTCT	0.602																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(151-153)Gat>Aat		POTE ankyrin domain family, member H							100	116	110					22																	16287735		1677	3225	4902	SO:0001583	missense	23784							g.chr22:16287735C>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.151G>A	22.37:g.16287735C>T	ENSP00000340610:p.Asp51Asn						p.D51N	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	202	-			51					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.151G>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	9.609	1.130718	0.21041	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.48522	0.81	.	.	.	.	.	.	.	.	T	0.46541	0.1398	N	0.24115	0.695	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.39418	-0.9615	7	0.22109	T	0.4	.	.	.	.	.	51	Q6S545	POTEH_HUMAN	N	51	ENSP00000340610:D51N	ENSP00000340610:D51N	D	-	1	0	POTEH	14667735	0.010000	0.17322	0.004000	0.12327	0.004000	0.04260	0.190000	0.17057	0.073000	0.16731	0.074000	0.15403	GAT		0.602	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		43	210	0	0	0	1	0	43	210					T	16287735	C	T	16287735	3	4	435	1	0	0	0	0	1	0	0	0	12267	884	31	2	1526	2	POTEH	22	16287735	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	111	16287735	35016831	8817	29742											
XKR3	150165	broad.mit.edu	37	chr22	17288731	17288731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggataatttgatccaaaattGcccccacaataataaagctg	16	10	6	9	0	0	1	0	1	0	0	1	2	1	2	3	1	2	1	3	1	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:17288731G>A	ENST00000331428.5	-	2	335	c.233C>T	c.(232-234)gCa>gTa	p.A78V		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ATCCAAAATTGCCCCCACAAT	0.353																																						ENST00000331428.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(232-234)gCa>gTa		XK, Kell blood group complex subunit-related family, member 3							87	81	83					22																	17288731		1831	4080	5911	SO:0001583	missense	150165					integral to membrane|plasma membrane		g.chr22:17288731G>A	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"X Kell blood group precursor-related family, member 3"			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.233C>T	22.37:g.17288731G>A	ENSP00000331704:p.Ala78Val						p.A78V	NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN			2	335	-	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)	78					B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	c.233C>T	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	1.418	-0.573607	0.03882	.	.	ENSG00000172967	ENST00000331428	T	0.63255	-0.03	0.539	-1.08	0.09936	.	0.162297	0.40728	U	0.001030	T	0.37892	0.1020	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16689	-1.0394	10	0.18710	T	0.47	.	6.824	0.23872	0.2495:0.0:0.7505:0.0	.	78	Q5GH77	XKR3_HUMAN	V	78	ENSP00000331704:A78V	ENSP00000331704:A78V	A	-	2	0	XKR3	15668731	0.033000	0.19621	0.005000	0.12908	0.051000	0.14879	-1.336000	0.02660	-1.932000	0.01053	-2.365000	0.00237	GCA		0.353	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		31	39	0	0	0	1	0	31	39					A	17288731	G	A	17288731	3	1	435	1	0	0	0	0	1	0	0	0	17429	1319	46	3	1158	3	XKR3	22	17288731	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1000996	17288731	34015835	8818	29743											
IL17RA	23765	broad.mit.edu	37	chr22	17583129	17583129	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctacccattaccagatcctGctgaccagttttccgcacat	9	12	5	15	1	1	2	0	1	1	1	3	2	3	2	5	0	3	3	5	0	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:17583129G>A	ENST00000319363.6	+	7	832	c.699G>A	c.(697-699)ctG>ctA	p.L233L		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	233					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			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)		ACCAGATCCTGCTGACCAGTT	0.552																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(697-699)ctG>ctA		interleukin 17 receptor A							199	180	187					22																	17583129		2203	4300	6503	SO:0001819	synonymous_variant	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17583129G>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"Interleukins and interleukin receptors", "CD molecules"	5985	protein-coding gene	gene with protein product		605461	"interleukin 17 receptor"	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.699G>A	22.37:g.17583129G>A							p.L233L	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	7	832	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	233					O43844|Q20WK1	Silent	SNP	ENST00000319363.6	37	c.699G>A	CCDS13739.1																																																																																				0.552	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		48	57	0	0	0	1	0	48	57					A	17583129	G	A	17583129	2	1	435	1	0	0	0	0	0	0	0	1	7639	1306	46	3		3	IL17RA	22	17583129	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	294398	17583129	33721437	8819	29744											
IL17RA	23765	broad.mit.edu	37	chr22	17584433	17584433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacgtcacactcactctacGcaaccttaaagggtgctgtc	11	9	7	14	2	3	0	2	0	1	0	4	0	3	0	1	1	4	2	1	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:17584433G>A	ENST00000319363.6	+	8	945	c.812G>A	c.(811-813)cGc>cAc	p.R271H		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	271					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			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)		CTCACTCTACGCAACCTTAAA	0.557																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(811-813)cGc>cAc		interleukin 17 receptor A							117	70	86					22																	17584433		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17584433G>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"Interleukins and interleukin receptors", "CD molecules"	5985	protein-coding gene	gene with protein product		605461	"interleukin 17 receptor"	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.812G>A	22.37:g.17584433G>A	ENSP00000320936:p.Arg271His						p.R271H	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	8	945	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	271					O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.812G>A	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896890	0.33535	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.05855	3.38	5.44	-10.5	0.00291	.	1.832950	0.02230	N	0.064807	T	0.04724	0.0128	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23368	-1.0190	10	0.42905	T	0.14	0.206	12.3624	0.55211	0.1459:0.5172:0.337:0.0	.	271;271	D3YTB4;Q96F46	.;I17RA_HUMAN	H	271	ENSP00000320936:R271H	ENSP00000320936:R271H	R	+	2	0	IL17RA	15964433	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.659000	0.01975	-1.882000	0.01122	-1.300000	0.01332	CGC		0.557	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		11	5	0	0	0	1	0	11	5					A	17584433	G	A	17584433	3	1	435	1	0	0	0	0	1	0	0	0	7639	1087	38	1	842	1	IL17RA	22	17584433	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1304	17584433	33720133	8820	29745											
CECR6	27439	broad.mit.edu	37	chr22	17600946	17600946	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagagcaggggcaccgacaGcgccatggtgagacggaagc	11	3	17	10	3	0	2	0	1	0	2	0	5	0	3	2	4	3	3	2	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:17600946G>A	ENST00000331437.3	-	1	1197	c.1072C>T	c.(1072-1074)Ctg>Ttg	p.L358L	AC006946.15_ENST00000441544.1_5'Flank|CECR6_ENST00000399875.1_Silent_p.L3L	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	358										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GGCACCGACAGCGCCATGGTG	0.697																																						ENST00000331437.3																			0				haematopoietic_and_lymphoid_tissue(1)	1						c.(1072-1074)Ctg>Ttg		cat eye syndrome chromosome region, candidate 6							39	31	33					22																	17600946		2202	4296	6498	SO:0001819	synonymous_variant	27439							g.chr22:17600946G>A	AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.1072C>T	22.37:g.17600946G>A						CECR6_ENST00000399875.1_Silent_p.L3L	p.L358L	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN		Colorectal(9;0.221)	1	1197	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	358					A8MYY1	Silent	SNP	ENST00000331437.3	37	c.1072C>T	CCDS13740.1																																																																																				0.697	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075359.4	NM_031890		15	45	0	0	0	1	0	15	45					A	17600946	G	A	17600946	2	1	435	1	0	0	0	0	0	0	0	1	3208	962	34	3		3	CECR6	22	17600946	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16513	17600946	33703620	8821	29746											
CECR5	27440	broad.mit.edu	37	chr22	17619480	17619480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggggcggcccagccccGcctctccgcctgtcgcctga	3	6	14	18	4	1	1	0	1	1	0	3	2	1	1	7	3	1	0	7	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:17619480G>A	ENST00000336737.4	-	7	920	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Missense_Mutation_p.R269W	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	299						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				GCCCAGCCCCGCCTCTCCGCC	0.612																																						ENST00000336737.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21						c.(895-897)Cgg>Tgg		cat eye syndrome chromosome region, candidate 5							120	127	125					22																	17619480		2203	4300	6503	SO:0001583	missense	27440						hydrolase activity	g.chr22:17619480G>A	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.895C>T	22.37:g.17619480G>A	ENSP00000337358:p.Arg299Trp					CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Missense_Mutation_p.R269W	p.R299W	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN			7	920	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	299					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	37	c.895C>T	CCDS33595.1	.	.	.	.	.	.	.	.	.	.	G	5.435	0.265298	0.10294	.	.	ENSG00000069998	ENST00000155674;ENST00000336737	T;T	0.22945	1.93;1.93	4.43	1.04	0.20106	HAD-like domain (2);	0.204910	0.41294	N	0.000903	T	0.22898	0.0553	M	0.78637	2.42	0.80722	D	1	B;B;B	0.32693	0.111;0.231;0.38	B;B;B	0.27715	0.03;0.022;0.082	T	0.02829	-1.1105	10	0.38643	T	0.18	-9.4691	4.9552	0.14035	0.1562:0.0:0.4166:0.4272	.	269;299;163	Q9BXW7-2;Q9BXW7;B3KVW8	.;CECR5_HUMAN;.	W	269;299	ENSP00000155674:R269W;ENSP00000337358:R299W	ENSP00000155674:R269W	R	-	1	2	CECR5	15999480	0.137000	0.22531	0.804000	0.32291	0.014000	0.08584	1.278000	0.33179	0.198000	0.20407	-0.335000	0.08231	CGG		0.612	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		47	77	0	0	0	1	0	47	77					A	17619480	G	A	17619480	3	1	435	1	0	0	0	0	1	0	0	0	3207	1086	38	1	384	1	CECR5	22	17619480	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18534	17619480	33685086	8822	29747											
CECR2	27443	broad.mit.edu	37	chr22	18022110	18022110	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaattcctcccagccatatgTatcgatcgtacaagtacctg	12	11	6	12	2	0	0	0	0	0	0	4	1	2	0	4	0	3	3	4	0	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:18022110T>C	ENST00000400585.2	+	16	2227	c.1789T>C	c.(1789-1791)Tat>Cat	p.Y597H	CECR2_ENST00000262608.8_Missense_Mutation_p.Y739H|CECR2_ENST00000400573.5_Missense_Mutation_p.Y738H			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	780					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CAGCCATATGTATCGATCGTA	0.562																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2215-2217)Tat>Cat		cat eye syndrome chromosome region, candidate 2							30	31	31					22																	18022110		1885	4120	6005	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022110T>C	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1789T>C	22.37:g.18022110T>C	ENSP00000383428:p.Tyr597His					CECR2_ENST00000400573.4_Missense_Mutation_p.Y738H|CECR2_ENST00000400585.2_Missense_Mutation_p.Y597H	p.Y739H	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2215	+		all_epithelial(15;0.139)	780					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.2215T>C		.	.	.	.	.	.	.	.	.	.	T	19.60	3.857970	0.71834	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.39406	1.2;1.17;1.08	5.43	5.43	0.79202	.	0.000000	0.48767	D	0.000175	T	0.61413	0.2345	M	0.67953	2.075	0.40331	D	0.978921	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.996	T	0.60826	-0.7186	10	0.34782	T	0.22	-13.1271	14.1944	0.65659	0.0:0.0:0.0:1.0	.	780;597;738	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	H	597;738;739	ENSP00000383428:Y597H;ENSP00000383417:Y738H;ENSP00000262608:Y739H	ENSP00000262608:Y739H	Y	+	1	0	CECR2	16402110	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.524000	0.67105	2.279000	0.76181	0.533000	0.62120	TAT		0.562	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		10	16	0	0	0	1	0	10	16					C	18022110	T	C	18022110	3	2	435	1	0	0	0	0	1	0	0	0	3206	1638	57	4	2272	4	CECR2	22	18022110	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	402630	18022110	33282456	8823	29748											
SLC25A18	83733	broad.mit.edu	37	chr22	18072396	18072396	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcaagaaaggcctgggCgaggacatgtacagtgggat	12	6	14	9	1	1	1	1	0	0	1	1	4	1	3	2	4	1	1	2	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:18072396C>T	ENST00000327451.6	+	10	1309	c.771C>T	c.(769-771)ggC>ggT	p.G257G	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Silent_p.G257G	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	257						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		AAGGCCTGGGCGAGGACATGT	0.507																																					Colon(118;1560 1625 18964 29606 50093)	ENST00000327451.5																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18						c.(769-771)ggC>ggT		solute carrier family 25 (glutamate carrier), member 18	L-Glutamic Acid(DB00142)						85	79	81					22																	18072396		2203	4300	6503	SO:0001819	synonymous_variant	83733					integral to membrane|mitochondrial inner membrane	binding|symporter activity	g.chr22:18072396C>T	AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"Solute carriers"	10988	protein-coding gene	gene with protein product		609303	"solute carrier family 25 (mitochondrial carrier), member 18"			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.771C>T	22.37:g.18072396C>T						SLC25A18_ENST00000399813.1_Silent_p.G257G	p.G257G	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN		Lung(27;0.124)	10	1309	+			257						Silent	SNP	ENST00000327451.6	37	c.771C>T	CCDS13744.1																																																																																				0.507	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316214.3	NM_031481		10	15	0	0	0	1	0	10	15					T	18072396	C	T	18072396	2	4	435	1	0	0	0	0	0	0	0	1	14480	755	27	1		1	SLC25A18	22	18072396	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	50286	18072396	33232170	8824	29749											
MICAL3	57553	broad.mit.edu	37	chr22	18300494	18300494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggggagtcaggccggcGctccttgccctgggagggtg	3	8	20	10	2	1	0	1	0	0	0	2	2	2	2	3	6	1	1	3	6	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:18300494G>A	ENST00000441493.2	-	26	5285	c.4933C>T	c.(4933-4935)Cgc>Tgc	p.R1645C	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1645					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCAGGCCGGCGCTCCTTGCCC	0.711																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(4933-4935)Cgc>Tgc		microtubule associated monooxygenase, calponin and LIM domain containing 3																																				SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18300494G>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4933C>T	22.37:g.18300494G>A	ENSP00000416015:p.Arg1645Cys						p.R1645C	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	5285	-		all_epithelial(15;0.198)	1645					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.4933C>T	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	G	5.606	0.296474	0.10622	.	.	ENSG00000093100	ENST00000441493	T	0.62498	0.02	4.65	1.25	0.21368	.	2.091240	0.02041	N	0.049305	T	0.38799	0.1054	N	0.08118	0	0.09310	N	1	P	0.35774	0.519	B	0.31547	0.132	T	0.34054	-0.9844	10	0.54805	T	0.06	.	1.7571	0.02984	0.181:0.2996:0.3657:0.1537	.	1645	Q7RTP6	MICA3_HUMAN	C	1645	ENSP00000416015:R1645C	ENSP00000416015:R1645C	R	-	1	0	XXbac-B461K10.4	16680494	0.000000	0.05858	0.001000	0.08648	0.294000	0.27393	0.514000	0.22786	0.052000	0.16007	0.561000	0.74099	CGC		0.711	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			8	14	0	0	0	1	0	8	14					A	18300494	G	A	18300494	3	1	435	1	0	0	0	0	1	0	0	0	9571	1087	38	1	1103	1	MICAL3	22	18300494	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	228098	18300494	33004072	8825	29750											
MICAL3	57553	broad.mit.edu	37	chr22	18378157	18378157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggggtggtctgaggcaGcaacctgtaaatactttccc	9	10	11	11	0	2	1	1	1	1	0	3	1	3	1	2	4	3	3	2	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:18378157G>T	ENST00000441493.2	-	10	1694	c.1342C>A	c.(1342-1344)Ctg>Atg	p.L448M	MICAL3_ENST00000207726.7_Missense_Mutation_p.L448M|MICAL3_ENST00000429452.1_Missense_Mutation_p.L448M|MICAL3_ENST00000444520.1_Missense_Mutation_p.L448M|MICAL3_ENST00000383094.3_Missense_Mutation_p.L448M|MICAL3_ENST00000400561.2_Missense_Mutation_p.L448M|MICAL3_ENST00000414725.2_Missense_Mutation_p.L448M|MICAL3_ENST00000585038.1_Missense_Mutation_p.L448M	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	448	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GTCTGAGGCAGCAACCTGTAA	0.478																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(1342-1344)Ctg>Atg		microtubule associated monooxygenase, calponin and LIM domain containing 3							154	126	135					22																	18378157		1568	3582	5150	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18378157G>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.1342C>A	22.37:g.18378157G>T	ENSP00000416015:p.Leu448Met					MICAL3_ENST00000400561.2_Missense_Mutation_p.L448M|MICAL3_ENST00000383094.3_Missense_Mutation_p.L448M|MICAL3_ENST00000429452.1_Missense_Mutation_p.L448M|MICAL3_ENST00000444520.1_Missense_Mutation_p.L448M|MICAL3_ENST00000414725.2_Missense_Mutation_p.L448M|MICAL3_ENST00000585038.1_Missense_Mutation_p.L448M|MICAL3_ENST00000207726.7_Missense_Mutation_p.L448M	p.L448M	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	10	1694	-		all_epithelial(15;0.198)	448					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.1342C>A	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832483	0.71258	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65	5.86	4.85	0.62838	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.38904	0.1058	M	0.77712	2.385	0.49798	D	0.999828	D;D;D;D	0.89917	0.999;0.998;1.0;0.999	D;D;D;D	0.87578	0.996;0.983;0.998;0.996	T	0.31503	-0.9941	10	0.62326	D	0.03	.	14.5316	0.67929	0.0696:0.0:0.9304:0.0	.	448;448;448;448	B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;MICA3_HUMAN	M	448	ENSP00000416015:L448M;ENSP00000414846:L448M;ENSP00000383406:L448M;ENSP00000410315:L448M;ENSP00000391827:L448M;ENSP00000372574:L448M;ENSP00000207726:L448M	ENSP00000207726:L448M	L	-	1	2	XXbac-B461K10.4;MICAL3	16758157	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.790000	0.69038	1.486000	0.48398	0.655000	0.94253	CTG		0.478	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			7	7	1	0	5.18039e-06	1	5.37127e-06	7	7					T	18378157	G	T	18378157	3	4	435	1	0	0	0	0	1	0	0	0	9571	962	34	5	5495	5	MICAL3	22	18378157	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	77663	18378157	32926409	8826	29751											
TUBA8	51807	broad.mit.edu	37	chr22	18613794	18613794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgtgggagaggggatggAagaaggagaattttctgagg	12	9	19	1	0	1	4	0	1	1	3	1	8	1	6	0	6	0	1	0	6	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:18613794A>G	ENST00000330423.3	+	5	1314	c.1241A>G	c.(1240-1242)gAa>gGa	p.E414G	TUBA8_ENST00000316027.6_Missense_Mutation_p.E348G	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	414					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GAGGGGATGGAAGAAGGAGAA	0.542																																						ENST00000330423.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(1240-1242)gAa>gGa		tubulin, alpha 8							72	68	69					22																	18613794		2203	4300	6503	SO:0001583	missense	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18613794A>G	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"Tubulins"	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.1241A>G	22.37:g.18613794A>G	ENSP00000333326:p.Glu414Gly					TUBA8_ENST00000316027.6_Missense_Mutation_p.E348G	p.E414G	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN			5	1314	+			414					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	c.1241A>G	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	.	19.93	3.918128	0.73098	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.85861	-2.04;-2.04;-2.04	5.19	5.19	0.71726	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.050010	0.85682	N	0.000000	D	0.93910	0.8051	H	0.94423	3.535	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.65573	0.936;0.839	D	0.95457	0.8539	10	0.87932	D	0	.	14.5342	0.67947	1.0:0.0:0.0:0.0	.	438;414	C9J2C0;Q9NY65	.;TBA8_HUMAN	G	348;414;438	ENSP00000318575:E348G;ENSP00000333326:E414G;ENSP00000412646:E438G	ENSP00000318575:E348G	E	+	2	0	TUBA8	16993794	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.307000	0.96226	2.077000	0.62373	0.533000	0.62120	GAA		0.542	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		31	41	0	0	0	1	0	31	41					G	18613794	A	G	18613794	3	3	435	1	0	0	0	0	1	0	0	0	16747	246	9	4	1259	4	TUBA8	22	18613794	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	235637	18613794	32690772	8827	29752											
TSSK2	23617	broad.mit.edu	37	chr22	19119414	19119414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcgggacagcaatgggCgcatcatcctcagcaagacc	10	5	12	14	2	2	1	2	0	0	1	3	2	3	2	3	2	3	3	3	2	2	0	rs200993519		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19119414C>T	ENST00000399635.2	+	1	1094	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	168	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CAGCAATGGGCGCATCATCCT	0.587																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(502-504)Cgc>Tgc		testis-specific serine kinase 2		C	,CYS/ARG	0,4406		0,0,2203	123	111	115		,502	3.2	0.1	22		115	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,missense	DGCR14,TSSK2	NM_022719.2,NM_053006.4	,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging	,168/359	19119414	1,13005	2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119414C>T	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"serine/threonine kinase 22B (spermiogenesis associated)"	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.502C>T	22.37:g.19119414C>T	ENSP00000382544:p.Arg168Cys					DGCR14_ENST00000252137.6_3'UTR	p.R168C	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	1094	+	Colorectal(54;0.0993)		168			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.502C>T	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	C	8.932	0.963636	0.18583	0.0	1.16E-4	ENSG00000206203	ENST00000399635	T	0.66995	-0.24	5.48	3.19	0.36642	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.149550	0.30762	N	0.008937	T	0.58481	0.2125	L	0.54323	1.7	0.09310	N	1	B	0.30605	0.287	B	0.28385	0.089	T	0.55774	-0.8088	10	0.44086	T	0.13	.	11.7575	0.51884	0.2734:0.7266:0.0:0.0	.	168	Q96PF2	TSSK2_HUMAN	C	168	ENSP00000382544:R168C	ENSP00000382544:R168C	R	+	1	0	TSSK2	17499414	0.000000	0.05858	0.057000	0.19452	0.374000	0.29953	0.052000	0.14163	2.575000	0.86900	0.655000	0.94253	CGC		0.587	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			26	40	0	0	0	1	0	26	40					T	19119414	C	T	19119414	3	4	435	1	0	0	0	0	1	0	0	0	16666	768	27	1	504	1	TSSK2	22	19119414	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	505620	19119414	32185152	8828	29753											
TSSK2	23617	broad.mit.edu	37	chr22	19119445	19119445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcaagaccttctgcgggtCggcagcatatgcagcccccg	8	6	12	15	3	1	1	0	0	1	1	2	1	1	1	3	2	5	4	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19119445C>T	ENST00000399635.2	+	1	1125	c.533C>T	c.(532-534)tCg>tTg	p.S178L	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					TTCTGCGGGTCGGCAGCATAT	0.582																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(532-534)tCg>tTg		testis-specific serine kinase 2							100	96	98					22																	19119445		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119445C>T	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"serine/threonine kinase 22B (spermiogenesis associated)"	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.533C>T	22.37:g.19119445C>T	ENSP00000382544:p.Ser178Leu					DGCR14_ENST00000252137.6_3'UTR	p.S178L	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	1125	+	Colorectal(54;0.0993)		178			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.533C>T	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875501	0.72180	.	.	ENSG00000206203	ENST00000399635	D	0.84944	-1.92	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000402	D	0.93491	0.7923	M	0.87097	2.86	0.45272	D	0.998271	D	0.89917	1.0	D	0.91635	0.999	D	0.94293	0.7530	10	0.87932	D	0	.	18.1358	0.89618	0.0:1.0:0.0:0.0	.	178	Q96PF2	TSSK2_HUMAN	L	178	ENSP00000382544:S178L	ENSP00000382544:S178L	S	+	2	0	TSSK2	17499445	1.000000	0.71417	0.952000	0.39060	0.360000	0.29518	5.733000	0.68571	2.575000	0.86900	0.655000	0.94253	TCG		0.582	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			24	60	0	0	0	1	0	24	60					T	19119445	C	T	19119445	3	4	435	1	0	0	0	0	1	0	0	0	16666	893	31	2	535	2	TSSK2	22	19119445	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31	19119445	32185121	8829	29754											
DGCR14	8220	broad.mit.edu	37	chr22	19124849	19124849	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacccaccttaaaagctgggCcgggtgtcctgtccacgtag	9	8	11	13	2	0	0	0	0	0	0	2	0	2	0	5	2	2	2	5	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19124849C>A	ENST00000252137.6	-	8	1065	c.1022G>T	c.(1021-1023)gGc>gTc	p.G341V		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	341					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					AAAAGCTGGGCCGGGTGTCCT	0.612																																						ENST00000252137.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(1021-1023)gGc>gTc		DiGeorge syndrome critical region gene 14							193	175	181					22																	19124849		2203	4300	6503	SO:0001583	missense	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19124849C>A	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"DiGeorge syndrome critical region gene 13"	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1022G>T	22.37:g.19124849C>A	ENSP00000252137:p.Gly341Val						p.G341V	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			8	1065	-	Colorectal(54;0.0993)		341					Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	c.1022G>T	CCDS13756.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029852	0.54790	.	.	ENSG00000100056	ENST00000252137	T	0.45276	0.9	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.70081	0.3183	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76219	-0.3039	10	0.72032	D	0.01	-30.3839	17.8175	0.88639	0.0:1.0:0.0:0.0	.	341	Q96DF8	DGC14_HUMAN	V	341	ENSP00000252137:G341V	ENSP00000252137:G341V	G	-	2	0	DGCR14	17504849	1.000000	0.71417	0.397000	0.26308	0.020000	0.10135	7.000000	0.76290	2.549000	0.85964	0.491000	0.48974	GGC		0.612	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			59	57	1	0	4.90955e-16	1	5.38364e-16	59	57					A	19124849	C	A	19124849	3	1	435	1	0	0	0	0	1	0	0	0	4460	739	26	5	420	5	DGCR14	22	19124849	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5404	19124849	32179717	8830	29755											
DGCR14	8220	broad.mit.edu	37	chr22	19126686	19126686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacctgggcattgagggCggctgcctgctggagctggc	4	8	17	12	1	1	1	1	1	0	0	1	2	1	2	2	5	3	5	2	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19126686C>T	ENST00000252137.6	-	6	851	c.808G>A	c.(808-810)Gcc>Acc	p.A270T		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	270					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GCATTGAGGGCGGCTGCCTGC	0.637																																						ENST00000252137.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(808-810)Gcc>Acc		DiGeorge syndrome critical region gene 14							31	31	31					22																	19126686		2203	4299	6502	SO:0001583	missense	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19126686C>T	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"DiGeorge syndrome critical region gene 13"	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.808G>A	22.37:g.19126686C>T	ENSP00000252137:p.Ala270Thr						p.A270T	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			6	851	-	Colorectal(54;0.0993)		270					Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	c.808G>A	CCDS13756.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332104	0.81801	.	.	ENSG00000100056	ENST00000252137	T	0.48201	0.82	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	L	0.45698	1.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55503	-0.8131	10	0.21014	T	0.42	-16.9578	17.7639	0.88471	0.0:1.0:0.0:0.0	.	270	Q96DF8	DGC14_HUMAN	T	270	ENSP00000252137:A270T	ENSP00000252137:A270T	A	-	1	0	DGCR14	17506686	1.000000	0.71417	0.971000	0.41717	0.966000	0.64601	7.451000	0.80668	2.284000	0.76573	0.563000	0.77884	GCC		0.637	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			7	4	0	0	0	1	0	7	4					T	19126686	C	T	19126686	3	4	435	1	0	0	0	0	1	0	0	0	4460	768	27	1	642	1	DGCR14	22	19126686	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1837	19126686	32177880	8831	29756											
CLTCL1	8218	broad.mit.edu	37	chr22	19168289	19168289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatgctcctcttgcttgcGcagactctccaaggcatcca	8	10	7	16	1	2	1	0	0	2	1	5	1	4	1	3	1	3	4	3	1	1	2	rs201397985	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19168289G>A	ENST00000263200.10	-	31	4930	c.4858C>T	c.(4858-4860)Cgc>Tgc	p.R1620C	CLTCL1_ENST00000442042.2_5'UTR|SLC25A1_ENST00000215882.5_5'Flank|SLC25A1_ENST00000451283.1_5'Flank|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1563C|SLC25A1_ENST00000461267.1_5'Flank|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1620C	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1620	Heavy chain arm.|Proximal segment.|Trimerization. {ECO:0000250}.		R -> H (in dbSNP:rs5748024).	RKQEEHVTEPAPLVFDFDGHE -> PPSKRSM (in Ref. 3; AAB40908/AAB40909). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCTTGCTTGCGCAGACTCTCC	0.602			T	?	ALCL								G|||	2	0.000399361	0	0.0029	5008	,	,		20311	0		0	False		,,,				2504	0					ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(4858-4860)Cgc>Tgc		clathrin, heavy chain-like 1		G	CYS/ARG,CYS/ARG	0,4276		0,0,2138	85	93	91		4687,4858	-4.9	0	22		91	2,8514		0,2,4256	no	missense,missense	CLTCL1	NM_001835.3,NM_007098.3	180,180	0,2,6394	AA,AG,GG		0.0235,0.0,0.0156	probably-damaging,probably-damaging	1563/1584,1620/1641	19168289	2,12790	2138	4258	6396	SO:0001583	missense	8218				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	g.chr22:19168289G>A		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4858C>T	22.37:g.19168289G>A	ENSP00000445677:p.Arg1620Cys					CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1563C|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1620C|CLTCL1_ENST00000442042.2_5'UTR	p.R1620C	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			31	4930	-	Colorectal(54;0.0993)		1620	RKQEEHVTEPAPLVFDFDGHE -> PPSKRSM (in Ref. 3; AAB40908/AAB40909).	R -> H (in dbSNP:rs5748024).	Heavy chain arm.|Proximal segment.|Trimerization (By similarity).		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.4858C>T	CCDS46662.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	12.60	1.988042	0.35036	0.0	2.35E-4	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.33438	1.41;1.41;1.41	4.81	-4.88	0.03113	.	0.540718	0.17323	N	0.178427	T	0.46964	0.1420	M	0.90309	3.105	0.21762	N	0.999551	B;B;D	0.59357	0.016;0.0;0.985	B;B;P	0.59115	0.002;0.0;0.852	T	0.38585	-0.9654	10	0.72032	D	0.01	0.3547	5.6115	0.17408	0.2874:0.0:0.2265:0.4861	.	1563;349;1620	P53675-2;B7Z1Z7;P53675	.;.;CLH2_HUMAN	C	1563;1620;1620	ENSP00000439662:R1563C;ENSP00000445677:R1620C;ENSP00000441158:R1620C	ENSP00000445677:R1620C	R	-	1	0	CLTCL1	17548289	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.145000	0.10265	-0.552000	0.06167	-0.137000	0.14449	CGC		0.602	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		4	55	0	0	0	1	0	4	55					A	19168289	G	A	19168289	3	1	435	1	0	0	0	0	1	0	0	0	3567	1087	38	1	72	1	CLTCL1	22	19168289	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	41603	19168289	32136277	8832	29757											
CLTCL1	8218	broad.mit.edu	37	chr22	19178854	19178854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaggtgtggtccagccGgggtgaaagcaccagcagca	9	6	15	11	1	0	1	0	1	0	0	2	1	2	1	4	4	4	3	4	4	1	0	rs190366603	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19178854G>A	ENST00000263200.10	-	27	4357	c.4285C>T	c.(4285-4287)Cgg>Tgg	p.R1429W	CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1429W|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1429W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1429	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TGGTCCAGCCGGGGTGAAAGC	0.493			T	?	ALCL								G|||	3	0.000599042	0.0023	0	5008	,	,		16783	0		0	False		,,,				2504	0					ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(4285-4287)Cgg>Tgg		clathrin, heavy chain-like 1		G	TRP/ARG,TRP/ARG	5,3907		0,5,1951	80	84	83		4285,4285	3.6	1	22		83	0,8286		0,0,4143	yes	missense,missense	CLTCL1	NM_007098.3,NM_001835.3	101,101	0,5,6094	AA,AG,GG		0.0,0.1278,0.041	benign,benign	1429/1641,1429/1584	19178854	5,12193	1956	4143	6099	SO:0001583	missense	8218				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	g.chr22:19178854G>A		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4285C>T	22.37:g.19178854G>A	ENSP00000445677:p.Arg1429Trp					CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1429W|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1429W|CLTCL1_ENST00000442042.2_5'UTR	p.R1429W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			27	4357	-	Colorectal(54;0.0993)		1429			Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.4285C>T	CCDS46662.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	18.39	3.613700	0.66672	0.001278	0.0	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.20332	2.08;2.08;2.08	3.61	3.61	0.41365	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.40956	0.1138	M	0.92649	3.33	0.80722	D	1	B;B;B	0.33171	0.4;0.318;0.266	B;B;B	0.39217	0.283;0.256;0.294	T	0.57888	-0.7733	10	0.87932	D	0	-17.9135	15.4348	0.75137	0.0:0.0:1.0:0.0	.	1429;252;1429	P53675-2;B7Z1Z7;P53675	.;.;CLH2_HUMAN	W	1429	ENSP00000439662:R1429W;ENSP00000445677:R1429W;ENSP00000441158:R1429W	ENSP00000445677:R1429W	R	-	1	2	CLTCL1	17558854	1.000000	0.71417	0.998000	0.56505	0.787000	0.44495	2.973000	0.49264	1.868000	0.54150	0.585000	0.79938	CGG		0.493	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		30	35	0	0	0	1	0	30	35					A	19178854	G	A	19178854	3	1	435	1	0	0	0	0	1	0	0	0	3567	1115	39	2	661	2	CLTCL1	22	19178854	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10565	19178854	32125712	8833	29758											
CLTCL1	8218	broad.mit.edu	37	chr22	19210286	19210286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcatggacaaagccaaaaCgatcacacacgatgatgagg	16	5	11	9	2	2	2	2	2	0	0	2	5	2	3	1	3	2	0	1	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19210286C>T	ENST00000263200.10	-	15	2411	c.2339G>A	c.(2338-2340)cGt>cAt	p.R780H	CLTCL1_ENST00000353891.5_Missense_Mutation_p.R780H|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R780H	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	780	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AAAGCCAAAACGATCACACAC	0.502			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2338-2340)cGt>cAt		clathrin, heavy chain-like 1							108	112	110					22																	19210286		2109	4220	6329	SO:0001583	missense	8218				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	g.chr22:19210286C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2339G>A	22.37:g.19210286C>T	ENSP00000445677:p.Arg780His					CLTCL1_ENST00000353891.5_Missense_Mutation_p.R780H|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R780H	p.R780H	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			15	2411	-	Colorectal(54;0.0993)		780			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.2339G>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871457	0.51695	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.15256	2.45;2.44;2.44	4.17	3.14	0.36123	Tetratricopeptide-like helical (1);	0.071181	0.56097	D	0.000033	T	0.47746	0.1462	M	0.91818	3.245	0.58432	D	0.999995	D;D	0.89917	1.0;0.998	D;D	0.75484	0.985;0.986	T	0.58797	-0.7573	10	0.87932	D	0	-15.2981	12.2086	0.54367	0.0:0.9155:0.0:0.0845	.	780;780	P53675-2;P53675	.;CLH2_HUMAN	H	780	ENSP00000439662:R780H;ENSP00000445677:R780H;ENSP00000441158:R780H	ENSP00000445677:R780H	R	-	2	0	CLTCL1	17590286	1.000000	0.71417	0.132000	0.22025	0.026000	0.11368	4.183000	0.58317	0.960000	0.38005	0.561000	0.74099	CGT		0.502	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		4	7	0	0	0	1	0	4	7					T	19210286	C	T	19210286	3	4	435	1	0	0	0	0	1	0	0	0	3567	536	19	1	2655	1	CLTCL1	22	19210286	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31432	19210286	32094280	8834	29759											
CLTCL1	8218	broad.mit.edu	37	chr22	19211575	19211575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagcccaggaagtagaagaGgcctatgaagagagaccatt	15	6	13	7	0	0	6	0	2	0	4	0	8	0	7	3	2	1	1	3	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19211575G>T	ENST00000263200.10	-	14	2203	c.2131C>A	c.(2131-2133)Ctc>Atc	p.L711I	CLTCL1_ENST00000353891.5_Missense_Mutation_p.L711I|CLTCL1_ENST00000427926.1_Missense_Mutation_p.L711I	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	711	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AAGTAGAAGAGGCCTATGAAG	0.522			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2131-2133)Ctc>Atc		clathrin, heavy chain-like 1							79	83	82					22																	19211575		2036	4180	6216	SO:0001583	missense	8218				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	g.chr22:19211575G>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2131C>A	22.37:g.19211575G>T	ENSP00000445677:p.Leu711Ile					CLTCL1_ENST00000353891.5_Missense_Mutation_p.L711I|CLTCL1_ENST00000427926.1_Missense_Mutation_p.L711I	p.L711I	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			14	2203	-	Colorectal(54;0.0993)		711			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.2131C>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037316	0.75617	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.33216	1.42;1.42;1.42	3.51	3.51	0.40186	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000010	T	0.55545	0.1927	M	0.76938	2.355	0.58432	D	0.999998	D;D	0.65815	0.995;0.964	D;D	0.72338	0.977;0.939	T	0.63102	-0.6712	10	0.56958	D	0.05	-11.6597	15.5588	0.76223	0.0:0.0:1.0:0.0	.	711;711	P53675-2;P53675	.;CLH2_HUMAN	I	711	ENSP00000439662:L711I;ENSP00000445677:L711I;ENSP00000441158:L711I	ENSP00000445677:L711I	L	-	1	0	CLTCL1	17591575	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.440000	0.52886	1.966000	0.57179	0.467000	0.42956	CTC		0.522	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		15	16	1	0	1.99824e-07	1	2.09433e-07	15	16					T	19211575	G	T	19211575	3	4	435	1	0	0	0	0	1	0	0	0	3567	1000	35	5	2867	5	CLTCL1	22	19211575	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1289	19211575	32092991	8835	29760											
CLTCL1	8218	broad.mit.edu	37	chr22	19230441	19230441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagagtagagctgcattgCtccaaccacacggttttgct	10	10	9	12	1	0	2	0	0	0	2	1	2	1	2	2	1	5	6	2	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19230441C>T	ENST00000263200.10	-	4	610	c.538G>A	c.(538-540)Gca>Aca	p.A180T	CLTCL1_ENST00000353891.5_Missense_Mutation_p.A180T|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A180T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	180	Globular terminal domain.|WD40-like repeat 4.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AGCTGCATTGCTCCAACCACA	0.408			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(538-540)Gca>Aca		clathrin, heavy chain-like 1							59	54	56					22																	19230441		1882	4120	6002	SO:0001583	missense	8218				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	g.chr22:19230441C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.538G>A	22.37:g.19230441C>T	ENSP00000445677:p.Ala180Thr					CLTCL1_ENST00000353891.5_Missense_Mutation_p.A180T|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A180T	p.A180T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			4	610	-	Colorectal(54;0.0993)		180			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.538G>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333525	0.41297	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.22539	1.95;1.95;1.95	3.85	2.83	0.33086	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.171591	0.38548	N	0.001655	T	0.36413	0.0966	M	0.66297	2.02	0.53688	D	0.999971	P;P	0.44090	0.667;0.826	P;P	0.61003	0.62;0.882	T	0.11717	-1.0576	10	0.14656	T	0.56	-1.0517	11.088	0.48099	0.0:0.9086:0.0:0.0914	.	180;180	P53675-2;P53675	.;CLH2_HUMAN	T	180	ENSP00000439662:A180T;ENSP00000445677:A180T;ENSP00000441158:A180T	ENSP00000445677:A180T	A	-	1	0	CLTCL1	17610441	1.000000	0.71417	0.991000	0.47740	0.943000	0.58893	5.116000	0.64661	0.814000	0.34374	0.655000	0.94253	GCA		0.408	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		10	16	0	0	0	1	0	10	16					T	19230441	C	T	19230441	3	4	435	1	0	0	0	0	1	0	0	0	3567	797	28	3	4500	3	CLTCL1	22	19230441	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18866	19230441	32074125	8836	29761											
UFD1L	7353	broad.mit.edu	37	chr22	19455394	19455394	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccgcttatttgaaaaagatAcacggctttggggttggtga	10	13	12	6	2	0	3	0	2	0	1	1	3	1	3	1	4	1	3	1	4	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19455394A>G	ENST00000263202.10	-	5	552		c.e5+1		UFD1L_ENST00000360834.4_Splice_Site|UFD1L_ENST00000399523.1_Splice_Site|UFD1L_ENST00000484101.1_Splice_Site	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					TGAAAAAGATACACGGCTTTG	0.493																																						ENST00000263202.9																			0				large_intestine(3)|upper_aerodigestive_tract(1)	4						c.e5+1		ubiquitin fusion degradation 1 like (yeast)							120	121	120					22																	19455394		2203	4300	6503	SO:0001630	splice_region_variant	7353				skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity	g.chr22:19455394A>G	AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"ubiquitin fusion degradation 1-like"			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.422+1T>C	22.37:g.19455394A>G						UFD1L_ENST00000484101.1_Splice_Site|UFD1L_ENST00000360834.4_Splice_Site|UFD1L_ENST00000399523.1_Splice_Site		NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN			5	552	-	Colorectal(54;0.0993)							A8MW31|Q9Y5N0	Splice_Site	SNP	ENST00000263202.10	37		CCDS13761.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.992789	0.74703	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000447868;ENST00000421968	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5641	0.68162	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UFD1L	17835394	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.739000	0.91574	2.087000	0.62958	0.454000	0.30748	.		0.493	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316460.6		Intron	17	81	0	0	0	1	0	17	81					G	19455394	A	G	19455394	5	3	435	1	0	0	0	0	0	0	1	0	16932	405	14	4	531	4	UFD1L	22	19455394	Splice_Site	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	224953	19455394	31849172	8837	29762											
CDC45	8318	broad.mit.edu	37	chr22	19502541	19502541	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatccctaagcctgctcagCaaacacctgctcaagtcctt	10	9	6	16	0	2	0	2	0	0	0	4	0	4	0	4	0	5	4	4	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19502541C>T	ENST00000407835.1	+	16	1666	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	CDC45_ENST00000404724.3_Silent_p.S424S|CDC45_ENST00000263201.1_Silent_p.S470S|CDC45_ENST00000437685.2_Silent_p.S502S			O75419	CDC45_HUMAN	cell division cycle 45	470					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S470R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GCCTGCTCAGCAAACACCTGC	0.602																																						ENST00000407835.1																			1	Substitution - Missense(1)	p.S470R(1)	breast(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						c.(1408-1410)agC>agT		cell division cycle 45							81	71	75					22																	19502541		2203	4300	6503	SO:0001819	synonymous_variant	8318				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	g.chr22:19502541C>T	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"human CDC45"	603465	"CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like", "CDC45 cell division cycle 45-like (S. cerevisiae)", "cell division cycle 45 homolog (S. cerevisiae)"	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1410C>T	22.37:g.19502541C>T						CDC45_ENST00000437685.2_Silent_p.S502S|CDC45_ENST00000263201.1_Silent_p.S470S|CDC45_ENST00000404724.3_Silent_p.S424S	p.S470S			O75419	CDC45_HUMAN			16	1666	+			470					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Silent	SNP	ENST00000407835.1	37	c.1410C>T	CCDS13762.1																																																																																				0.602	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		9	16	0	0	0	1	0	9	16					T	19502541	C	T	19502541	2	4	435	1	0	0	0	0	0	0	0	1	3081	709	25	3		3	CDC45	22	19502541	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	47147	19502541	31802025	8838	29763											
CDC45	8318	broad.mit.edu	37	chr22	19504132	19504132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcacagtgaccgtggtggGcatccccccagagaccgaca	9	5	13	14	2	0	2	0	1	0	1	1	4	1	2	5	3	0	2	5	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19504132G>A	ENST00000407835.1	+	17	1779	c.1523G>A	c.(1522-1524)gGc>gAc	p.G508D	CDC45_ENST00000404724.3_Missense_Mutation_p.G462D|CDC45_ENST00000263201.1_Missense_Mutation_p.G508D|CDC45_ENST00000437685.2_Missense_Mutation_p.G540D			O75419	CDC45_HUMAN	cell division cycle 45	508					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						ACCGTGGTGGGCATCCCCCCA	0.607																																						ENST00000407835.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						c.(1522-1524)gGc>gAc		cell division cycle 45							62	64	63					22																	19504132		2203	4300	6503	SO:0001583	missense	8318				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	g.chr22:19504132G>A	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"human CDC45"	603465	"CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like", "CDC45 cell division cycle 45-like (S. cerevisiae)", "cell division cycle 45 homolog (S. cerevisiae)"	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1523G>A	22.37:g.19504132G>A	ENSP00000385240:p.Gly508Asp					CDC45_ENST00000437685.2_Missense_Mutation_p.G540D|CDC45_ENST00000263201.1_Missense_Mutation_p.G508D|CDC45_ENST00000404724.3_Missense_Mutation_p.G462D	p.G508D			O75419	CDC45_HUMAN			17	1779	+			508					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	ENST00000407835.1	37	c.1523G>A	CCDS13762.1	.	.	.	.	.	.	.	.	.	.	g	24.9	4.584080	0.86748	.	.	ENSG00000093009	ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	5.29	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74456	-0.3659	10	0.87932	D	0	-32.5124	14.6881	0.69065	0.0:0.0:0.8542:0.1458	.	540;462;540;508	E9PDH7;B4DDB4;B4DDU3;O75419	.;.;.;CDC45_HUMAN	D	508;540;508;462	ENSP00000385240:G508D;ENSP00000405726:G540D;ENSP00000263201:G508D;ENSP00000384978:G462D	ENSP00000263201:G508D	G	+	2	0	CDC45	17884132	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.512000	0.81728	2.482000	0.83794	0.563000	0.77884	GGC		0.607	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		14	18	0	0	0	1	0	14	18					A	19504132	G	A	19504132	3	1	435	1	0	0	0	0	1	0	0	0	3081	1203	42	3	1685	3	CDC45	22	19504132	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1591	19504132	31800434	8839	29764											
GNB1L	54584	broad.mit.edu	37	chr22	19776365	19776365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacggccagtggctgcatcGtccgccagtggaacacgcgg	7	5	15	14	5	0	0	0	0	0	0	2	1	1	1	3	4	2	3	3	4	1	0	rs73148914	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19776365G>A	ENST00000329517.6	-	8	1087	c.851C>T	c.(850-852)aCg>aTg	p.T284M	GNB1L_ENST00000403325.1_Missense_Mutation_p.T284M|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Intron	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	284					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					TGGCTGCATCGTCCGCCAGTG	0.687													G|||	30	0.00599042	0.0015	0.0029	5008	,	,		16293	0		0.0249	False		,,,				2504	0.001					ENST00000329517.6																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12						c.(850-852)aCg>aTg		guanine nucleotide binding protein (G protein), beta polypeptide 1-like		G	MET/THR	19,4361		0,19,2171	28	28	28		851	3.4	0.7	22	dbSNP_130	28	207,8357		1,205,4076	yes	missense	GNB1L	NM_053004.2	81	1,224,6247	AA,AG,GG		2.4171,0.4338,1.746	probably-damaging	284/328	19776365	226,12718	2190	4282	6472	SO:0001583	missense	0				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19776365G>A	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"WD repeat domain containing"	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.851C>T	22.37:g.19776365G>A	ENSP00000331313:p.Thr284Met					GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Missense_Mutation_p.T284M	p.T284M	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN			8	1087	-	Colorectal(54;0.0993)		284					Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	37	c.851C>T	CCDS13768.1	23	0.010531135531135532	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	20	0.026385224274406333	G	13.86	2.363950	0.41902	0.004338	0.024171	ENSG00000185838	ENST00000329517;ENST00000403325	T;T	0.22743	1.94;1.94	5.53	3.36	0.38483	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.196671	0.41823	U	0.000810	T	0.09686	0.0238	M	0.85041	2.73	0.80722	D	1	D	0.55385	0.971	B	0.40329	0.326	T	0.04664	-1.0935	10	0.66056	D	0.02	-16.4818	8.1334	0.31039	0.0:0.1138:0.411:0.4751	.	284	Q9BYB4	GNB1L_HUMAN	M	284	ENSP00000331313:T284M;ENSP00000385154:T284M	ENSP00000331313:T284M	T	-	2	0	GNB1L	18156365	0.998000	0.40836	0.724000	0.30704	0.077000	0.17291	2.869000	0.48444	1.346000	0.45694	-0.152000	0.13540	ACG		0.687	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			10	18	0	0	0	1	0	10	18					A	19776365	G	A	19776365	3	1	435	1	0	0	0	0	1	0	0	0	6516	1145	40	1	136	1	GNB1L	22	19776365	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	272233	19776365	31528201	8840	29765											
C22orf29	79680	broad.mit.edu	37	chr22	19838799	19838799	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgtctccaaaacctccTcctctgttttctggggtttt	4	17	6	14	0	4	0	0	0	4	0	7	0	6	0	5	2	1	2	5	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19838799T>C	ENST00000405640.1	-	2	1654	c.986A>G	c.(985-987)gAg>gGg	p.E329G	C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.E329G|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.E329G			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	329					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CAAAACCTCCTCCTCTGTTTT	0.602																																						ENST00000405640.1																			0				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(985-987)gAg>gGg		chromosome 22 open reading frame 29							47	43	44					22																	19838799		2203	4300	6503	SO:0001583	missense	79680							g.chr22:19838799T>C	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.986A>G	22.37:g.19838799T>C	ENSP00000384924:p.Glu329Gly					GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.E329G|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.E329G|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Intron	p.E329G			Q7L3V2	CV029_HUMAN			2	1654	-	Colorectal(54;0.0993)		329					A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Missense_Mutation	SNP	ENST00000405640.1	37	c.986A>G	CCDS13769.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.588146	0.28268	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640	T;T;T	0.24151	1.87;1.87;1.87	3.1	2.06	0.26882	.	.	.	.	.	T	0.23410	0.0566	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	D	0.64321	0.924	T	0.07712	-1.0758	9	0.59425	D	0.04	.	4.9196	0.13864	0.0:0.1428:0.0:0.8572	.	329	Q7L3V2	CV029_HUMAN	G	329	ENSP00000386111:E329G;ENSP00000330596:E329G;ENSP00000384924:E329G	ENSP00000330596:E329G	E	-	2	0	C22orf29	18218799	0.012000	0.17670	0.010000	0.14722	0.090000	0.18270	1.896000	0.39789	0.594000	0.29761	0.528000	0.53228	GAG		0.602	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	NM_024627		3	18	0	0	0	1	0	3	18					C	19838799	T	C	19838799	3	2	435	1	0	0	0	0	1	0	0	0	2141	1551	54	4	112	4	C22orf29	22	19838799	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	62434	19838799	31465767	8841	29766											
ARVCF	421	broad.mit.edu	37	chr22	19959484	19959484	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctccctccggtccaccgtGgagtatccgtctgtagatgg	5	10	12	14	4	1	1	0	0	1	1	5	2	5	2	5	3	0	3	5	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19959484G>T	ENST00000263207.3	-	18	2997	c.2706C>A	c.(2704-2706)tcC>tcA	p.S902S	ARVCF_ENST00000401994.1_Silent_p.S839S|ARVCF_ENST00000344269.3_Silent_p.S839S|ARVCF_ENST00000406522.1_Silent_p.S833S|ARVCF_ENST00000406259.1_Silent_p.S896S	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	902					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GGTCCACCGTGGAGTATCCGT	0.632																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(2704-2706)tcC>tcA		armadillo repeat gene deleted in velocardiofacial syndrome							59	58	59					22																	19959484		2203	4300	6503	SO:0001819	synonymous_variant	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19959484G>T		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2706C>A	22.37:g.19959484G>T						ARVCF_ENST00000344269.3_Silent_p.S839S|ARVCF_ENST00000406522.1_Silent_p.S833S|ARVCF_ENST00000406259.1_Silent_p.S896S|ARVCF_ENST00000401994.1_Silent_p.S839S	p.S902S	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			18	2997	-	Colorectal(54;0.0993)		902					B7WNV2	Silent	SNP	ENST00000263207.3	37	c.2706C>A	CCDS13771.1																																																																																				0.632	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		9	19	1	0	2.80697e-09	1	2.97546e-09	9	19					T	19959484	G	T	19959484	2	4	435	1	0	0	0	0	0	0	0	1	1003	1335	47	5		5	ARVCF	22	19959484	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	120685	19959484	31345082	8842	29767											
ARVCF	421	broad.mit.edu	37	chr22	19966463	19966463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacagttgtccactcggCgtcccgtggcttggagtcct	6	10	13	12	3	0	1	0	0	0	1	4	3	3	2	3	3	0	2	3	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19966463C>T	ENST00000263207.3	-	7	1828	c.1537G>A	c.(1537-1539)Gcc>Acc	p.A513T	ARVCF_ENST00000401994.1_Missense_Mutation_p.A450T|ARVCF_ENST00000344269.3_Missense_Mutation_p.A450T|ARVCF_ENST00000406522.1_Missense_Mutation_p.A450T|ARVCF_ENST00000406259.1_Missense_Mutation_p.A513T|ARVCF_ENST00000487793.1_5'Flank	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	513					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GTCCACTCGGCGTCCCGTGGC	0.622																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(1537-1539)Gcc>Acc		armadillo repeat gene deleted in velocardiofacial syndrome							155	104	121					22																	19966463		2203	4300	6503	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19966463C>T		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1537G>A	22.37:g.19966463C>T	ENSP00000263207:p.Ala513Thr					ARVCF_ENST00000344269.3_Missense_Mutation_p.A450T|ARVCF_ENST00000406522.1_Missense_Mutation_p.A450T|ARVCF_ENST00000406259.1_Missense_Mutation_p.A513T|ARVCF_ENST00000401994.1_Missense_Mutation_p.A450T	p.A513T	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			7	1828	-	Colorectal(54;0.0993)		513					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.1537G>A	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941257	0.73557	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	4.43	4.43	0.53597	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78591	0.4307	L	0.28504	0.86	0.80722	D	1	D;D	0.89917	0.99;1.0	P;D	0.71656	0.707;0.974	T	0.77019	-0.2743	9	.	.	.	-5.8494	17.6161	0.88068	0.0:1.0:0.0:0.0	.	513;35	O00192;E7EV58	ARVC_HUMAN;.	T	513;450;450;450;513	ENSP00000263207:A513T;ENSP00000342042:A450T;ENSP00000384341:A450T;ENSP00000384732:A450T;ENSP00000385444:A513T	.	A	-	1	0	ARVCF	18346463	0.990000	0.36364	0.911000	0.35937	0.510000	0.34073	2.964000	0.49192	2.472000	0.83506	0.563000	0.77884	GCC		0.622	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		8	21	0	0	0	1	0	8	21					T	19966463	C	T	19966463	3	4	435	1	0	0	0	0	1	0	0	0	1003	768	27	1	1403	1	ARVCF	22	19966463	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6979	19966463	31338103	8843	29768											
ARVCF	421	broad.mit.edu	37	chr22	19967464	19967464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaagcagcggcagcccccGcaactgccgtacacgccgct	9	3	10	19	5	0	0	0	0	0	0	0	0	0	0	4	1	6	5	4	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19967464G>A	ENST00000263207.3	-	6	1489	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	ARVCF_ENST00000401994.1_Missense_Mutation_p.R337W|ARVCF_ENST00000344269.3_Missense_Mutation_p.R337W|ARVCF_ENST00000406522.1_Missense_Mutation_p.R337W|ARVCF_ENST00000406259.1_Missense_Mutation_p.R400W|ARVCF_ENST00000487793.1_5'Flank	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	400					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GGCAGCCCCCGCAACTGCCGT	0.697																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(1198-1200)Cgg>Tgg		armadillo repeat gene deleted in velocardiofacial syndrome							15	15	15					22																	19967464		2177	4261	6438	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19967464G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1198C>T	22.37:g.19967464G>A	ENSP00000263207:p.Arg400Trp					ARVCF_ENST00000344269.3_Missense_Mutation_p.R337W|ARVCF_ENST00000406522.1_Missense_Mutation_p.R337W|ARVCF_ENST00000406259.1_Missense_Mutation_p.R400W|ARVCF_ENST00000401994.1_Missense_Mutation_p.R337W	p.R400W	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			6	1489	-	Colorectal(54;0.0993)		400					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.1198C>T	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361131	0.82353	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	4.61	3.52	0.40303	Armadillo-like helical (1);Armadillo-type fold (1);	0.054518	0.64402	D	0.000001	T	0.72630	0.3484	L	0.48642	1.525	0.40583	D	0.981419	D	0.76494	0.999	D	0.72625	0.978	T	0.71144	-0.4678	9	.	.	.	-21.2059	10.5617	0.45150	0.0:0.0:0.6286:0.3714	.	400	O00192	ARVC_HUMAN	W	400;337;337;337;400	ENSP00000263207:R400W;ENSP00000342042:R337W;ENSP00000384341:R337W;ENSP00000384732:R337W;ENSP00000385444:R400W	.	R	-	1	2	ARVCF	18347464	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.515000	0.60489	2.589000	0.87451	0.650000	0.86243	CGG		0.697	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		5	2	0	0	0	1	0	5	2					A	19967464	G	A	19967464	3	1	435	1	0	0	0	0	1	0	0	0	1003	1086	38	1	1746	1	ARVCF	22	19967464	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1001	19967464	31337102	8844	29769											
ARVCF	421	broad.mit.edu	37	chr22	19969197	19969197	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatccagcagggggagtcCatctgggcccacgggcacct	7	5	14	15	1	1	0	0	0	1	0	3	1	3	1	5	4	1	2	5	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19969197C>A	ENST00000263207.3	-	5	724	c.433G>T	c.(433-435)Gga>Tga	p.G145*	ARVCF_ENST00000401994.1_Nonsense_Mutation_p.G82*|ARVCF_ENST00000344269.3_Nonsense_Mutation_p.G82*|ARVCF_ENST00000406522.1_Nonsense_Mutation_p.G82*|ARVCF_ENST00000406259.1_Nonsense_Mutation_p.G145*|ARVCF_ENST00000487793.1_5'UTR	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	145					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					AGGGGGAGTCCATCTGGGCCC	0.642																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(433-435)Gga>Tga		armadillo repeat gene deleted in velocardiofacial syndrome							38	46	43					22																	19969197		2190	4261	6451	SO:0001587	stop_gained	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19969197C>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.433G>T	22.37:g.19969197C>A	ENSP00000263207:p.Gly145*					ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000344269.3_Nonsense_Mutation_p.G82*|ARVCF_ENST00000406522.1_Nonsense_Mutation_p.G82*|ARVCF_ENST00000406259.1_Nonsense_Mutation_p.G145*|ARVCF_ENST00000401994.1_Nonsense_Mutation_p.G82*	p.G145*	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			5	724	-	Colorectal(54;0.0993)		145					B7WNV2	Nonsense_Mutation	SNP	ENST00000263207.3	37	c.433G>T	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	C	37	6.554885	0.97658	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	.	.	.	4.43	2.32	0.28847	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.993	10.872	0.46889	0.0:0.8446:0.0:0.1554	.	.	.	.	X	145;82;82;82;145	.	.	G	-	1	0	ARVCF	18349197	1.000000	0.71417	0.980000	0.43619	0.860000	0.49131	5.601000	0.67606	0.608000	0.30000	0.551000	0.68910	GGA		0.642	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		19	36	1	0	5.35356e-11	1	5.74024e-11	19	36					A	19969197	C	A	19969197	4	1	435	1	0	0	0	0	0	1	0	0	1003	603	21	5	2515	5	ARVCF	22	19969197	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1733	19969197	31335369	8845	29770											
ARVCF	421	broad.mit.edu	37	chr22	19969540	19969540	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccggggtcctcctccacCgtcacggtctcctccagcac	4	8	10	19	3	2	0	1	0	1	0	7	0	6	0	7	3	2	1	7	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19969540C>T	ENST00000263207.3	-	4	576	c.285G>A	c.(283-285)acG>acA	p.T95T	ARVCF_ENST00000401994.1_Silent_p.T32T|ARVCF_ENST00000344269.3_Silent_p.T32T|ARVCF_ENST00000406522.1_Silent_p.T32T|ARVCF_ENST00000406259.1_Silent_p.T95T|ARVCF_ENST00000487793.1_5'UTR	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	95					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CCTCCTCCACCGTCACGGTCT	0.647																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(283-285)acG>acA		armadillo repeat gene deleted in velocardiofacial syndrome							113	91	98					22																	19969540		2203	4300	6503	SO:0001819	synonymous_variant	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19969540C>T		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.285G>A	22.37:g.19969540C>T						ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000344269.3_Silent_p.T32T|ARVCF_ENST00000406522.1_Silent_p.T32T|ARVCF_ENST00000406259.1_Silent_p.T95T|ARVCF_ENST00000401994.1_Silent_p.T32T	p.T95T	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			4	576	-	Colorectal(54;0.0993)		95					B7WNV2	Silent	SNP	ENST00000263207.3	37	c.285G>A	CCDS13771.1																																																																																				0.647	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		20	23	0	0	0	1	0	20	23					T	19969540	C	T	19969540	2	4	435	1	0	0	0	0	0	0	0	1	1003	639	23	2		2	ARVCF	22	19969540	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	343	19969540	31335026	8846	29771											
DGCR8	54487	broad.mit.edu	37	chr22	20078990	20078990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgaagctacctggagaagCgttttgactttgagcaagtt	10	13	11	7	2	0	3	0	2	0	1	1	5	0	3	1	1	4	4	1	1	4	6	rs369018600		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:20078990C>T	ENST00000351989.3	+	6	1768	c.1339C>T	c.(1339-1341)Cgt>Tgt	p.R447C	DGCR8_ENST00000383024.2_Missense_Mutation_p.R447C|DGCR8_ENST00000407755.1_Missense_Mutation_p.R447C	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	447	Necessary for heme-binding and pri-miRNA processing.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CCTGGAGAAGCGTTTTGACTT	0.473																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1339-1341)Cgt>Tgt		DGCR8 microprocessor complex subunit							123	135	131					22																	20078990		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20078990C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1339C>T	22.37:g.20078990C>T	ENSP00000263209:p.Arg447Cys					DGCR8_ENST00000383024.2_Missense_Mutation_p.R447C|DGCR8_ENST00000407755.1_Missense_Mutation_p.R447C	p.R447C	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			6	1768	+	Colorectal(54;0.0993)		447			Necessary for heme-binding and pri-miRNA processing.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.1339C>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651869	0.47362	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.32988	1.45;1.43;1.43	4.77	4.77	0.60923	.	0.049930	0.85682	D	0.000000	T	0.21962	0.0529	N	0.21448	0.665	0.80722	D	1	B;B	0.18968	0.009;0.032	B;B	0.12156	0.007;0.004	T	0.03969	-1.0988	10	0.54805	T	0.06	-9.664	12.6525	0.56770	0.1653:0.8347:0.0:0.0	.	447;447	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	C	447	ENSP00000263209:R447C;ENSP00000372488:R447C;ENSP00000384726:R447C	ENSP00000263209:R447C	R	+	1	0	DGCR8	18458990	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.302000	0.59092	2.472000	0.83506	0.591000	0.81541	CGT		0.473	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			51	78	0	0	0	1	0	51	78					T	20078990	C	T	20078990	3	4	435	1	0	0	0	0	1	0	0	0	4464	768	27	1	1357	1	DGCR8	22	20078990	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	109450	20078990	31225576	8847	29772											
DGCR8	54487	broad.mit.edu	37	chr22	20079068	20079068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattcaatcgggaaatgaagCggaagcaggcggagtccgag	14	5	15	7	4	1	1	1	1	0	0	3	5	2	4	1	4	2	1	1	4	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:20079068C>T	ENST00000351989.3	+	6	1846	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	DGCR8_ENST00000383024.2_Missense_Mutation_p.R473W|DGCR8_ENST00000407755.1_Missense_Mutation_p.R473W	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	473	Necessary for heme-binding and pri-miRNA processing.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGAAATGAAGCGGAAGCAGGC	0.483																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1417-1419)Cgg>Tgg		DGCR8 microprocessor complex subunit							159	177	171					22																	20079068		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20079068C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1417C>T	22.37:g.20079068C>T	ENSP00000263209:p.Arg473Trp					DGCR8_ENST00000383024.2_Missense_Mutation_p.R473W|DGCR8_ENST00000407755.1_Missense_Mutation_p.R473W	p.R473W	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			6	1846	+	Colorectal(54;0.0993)		473			Necessary for heme-binding and pri-miRNA processing.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.1417C>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644881	0.67358	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.35236	1.37;1.32;1.32	4.62	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.43765	0.1262	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61874	0.895;0.857	T	0.36672	-0.9738	10	0.72032	D	0.01	-3.6362	8.3837	0.32488	0.1537:0.7635:0.0:0.0829	.	473;473	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	W	473	ENSP00000263209:R473W;ENSP00000372488:R473W;ENSP00000384726:R473W	ENSP00000263209:R473W	R	+	1	2	DGCR8	18459068	1.000000	0.71417	0.998000	0.56505	0.665000	0.39181	2.271000	0.43364	1.158000	0.42547	0.591000	0.81541	CGG		0.483	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			30	126	0	0	0	1	0	30	126					T	20079068	C	T	20079068	3	4	435	1	0	0	0	0	1	0	0	0	4464	759	27	1	1435	1	DGCR8	22	20079068	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	78	20079068	31225498	8848	29773											
ZDHHC8	29801	broad.mit.edu	37	chr22	20128155	20128155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtgactgggaagttcCgcgggggtgtgaaccctttc	7	9	15	10	2	0	2	0	2	0	0	2	3	1	3	2	4	1	1	2	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:20128155C>T	ENST00000334554.7	+	6	817	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.R134C|ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.R226C	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	226					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TGGGAAGTTCCGCGGGGGTGT	0.697																																						ENST00000334554.7																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20						c.(676-678)Cgc>Tgc		zinc finger, DHHC-type containing 8							33	29	31					22																	20128155		2199	4298	6497	SO:0001583	missense	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20128155C>T	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"Zinc fingers, DHHC-type"	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.676C>T	22.37:g.20128155C>T	ENSP00000334490:p.Arg226Cys					ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.R134C|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.R226C	p.R226C	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN			6	817	+	Colorectal(54;0.0993)		226					Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	c.676C>T	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270173	0.80469	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.75260	1.03;-0.92;1.0	4.94	4.94	0.65067	.	0.068134	0.64402	D	0.000008	D	0.84705	0.5531	M	0.64997	1.995	0.80722	D	1	B;D;D	0.89917	0.1;1.0;1.0	B;D;D	0.83275	0.011;0.996;0.974	D	0.84604	0.0674	10	0.45353	T	0.12	.	18.5305	0.90990	0.0:1.0:0.0:0.0	.	134;226;226	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	C	226;134;226	ENSP00000334490:R226C;ENSP00000317804:R134C;ENSP00000384716:R226C	ENSP00000317804:R134C	R	+	1	0	ZDHHC8	18508155	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.574000	0.67424	2.432000	0.82394	0.655000	0.94253	CGC		0.697	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		3	3	0	0	0	1	0	3	3					T	20128155	C	T	20128155	3	4	435	1	0	0	0	0	1	0	0	0	17618	652	23	2	698	2	ZDHHC8	22	20128155	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	49087	20128155	31176411	8849	29774											
ZDHHC8	29801	broad.mit.edu	37	chr22	20132768	20132768	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggaccaccctcagctgAagactcccccaagtaagctt	11	6	9	15	0	1	2	1	1	0	1	2	3	2	3	4	1	2	4	4	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:20132768A>G	ENST00000334554.7	+	11	2284	c.2143A>G	c.(2143-2145)Aag>Gag	p.K715E	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.K623E|ZDHHC8_ENST00000405930.3_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	715					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.K715*(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCCTCAGCTGAAGACTCCCCC	0.632																																						ENST00000334554.7																			1	Substitution - Nonsense(1)	p.K715*(1)	lung(1)	breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20						c.(2143-2145)Aag>Gag		zinc finger, DHHC-type containing 8							158	162	161					22																	20132768		2203	4300	6503	SO:0001583	missense	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20132768A>G	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"Zinc fingers, DHHC-type"	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.2143A>G	22.37:g.20132768A>G	ENSP00000334490:p.Lys715Glu					ZDHHC8_ENST00000320602.7_Missense_Mutation_p.K623E|ZDHHC8_ENST00000405930.3_Intron	p.K715E	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN			11	2284	+	Colorectal(54;0.0993)		715					Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	c.2143A>G	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	.	17.74	3.464695	0.63513	.	.	ENSG00000099904	ENST00000334554;ENST00000320602	T;T	0.74421	1.15;-0.84	5.06	5.06	0.68205	.	1.011550	0.07941	N	0.979297	D	0.86669	0.5988	M	0.71036	2.16	0.80722	D	1	D;B	0.67145	0.996;0.164	D;B	0.77557	0.99;0.04	T	0.81066	-0.1101	10	0.72032	D	0.01	.	15.149	0.72681	1.0:0.0:0.0:0.0	.	623;715	Q9ULC8-2;Q9ULC8	.;ZDHC8_HUMAN	E	715;623	ENSP00000334490:K715E;ENSP00000317804:K623E	ENSP00000317804:K623E	K	+	1	0	ZDHHC8	18512768	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.772000	0.75001	2.053000	0.61076	0.451000	0.29950	AAG		0.632	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		72	111	0	0	0	1	0	72	111					G	20132768	A	G	20132768	3	3	435	1	0	0	0	0	1	0	0	0	17618	247	9	4	2185	4	ZDHHC8	22	20132768	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	4613	20132768	31171798	8850	29775											
ZNF74	7625	broad.mit.edu	37	chr22	20759925	20759925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggacccttgctggacacacGcaagaacgtccaggccactg	10	5	12	14	2	0	1	0	0	0	1	1	3	1	3	3	3	2	2	3	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:20759925G>A	ENST00000400451.2	+	5	1116	c.602G>A	c.(601-603)cGc>cAc	p.R201H	ZNF74_ENST00000356671.5_Missense_Mutation_p.R201H|ZNF74_ENST00000405993.1_Missense_Mutation_p.R169H|ZNF74_ENST00000403682.3_Silent_p.T172T|ZNF74_ENST00000357502.5_Silent_p.T206T	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	201					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTGGACACACGCAAGAACGTC	0.637																																						ENST00000400451.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(601-603)cGc>cAc		zinc finger protein 74							29	35	33					22																	20759925		1998	4160	6158	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20759925G>A	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"Zinc fingers, C2H2-type", "-"	13144	protein-coding gene	gene with protein product		194548	"zinc finger protein 74 (Cos52)"			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.602G>A	22.37:g.20759925G>A	ENSP00000383301:p.Arg201His					ZNF74_ENST00000357502.5_Silent_p.T206T|ZNF74_ENST00000356671.5_Missense_Mutation_p.R201H|ZNF74_ENST00000403682.3_Silent_p.T172T|ZNF74_ENST00000405993.1_Missense_Mutation_p.R169H	p.R201H	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		5	1116	+	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)	201					B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.602G>A	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	G	5.231	0.228044	0.09916	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.05996	3.46;3.46;3.36	3.85	-7.7	0.01259	.	2.759500	0.01608	N	0.022418	T	0.02807	0.0084	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38714	-0.9648	10	0.36615	T	0.2	.	7.5061	0.27545	0.3096:0.226:0.4644:0.0	.	201	Q16587	ZNF74_HUMAN	H	201;201;169	ENSP00000383301:R201H;ENSP00000349098:R201H;ENSP00000385855:R169H	ENSP00000349098:R201H	R	+	2	0	ZNF74	19089925	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-1.954000	0.01025	-0.794000	0.03295	CGC		0.637	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		6	6	0	0	0	1	0	6	6					A	20759925	G	A	20759925	3	1	435	1	0	0	0	0	1	0	0	0	18124	1087	38	1	620	1	ZNF74	22	20759925	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	627157	20759925	30544641	8851	29776											
ZNF74	7625	broad.mit.edu	37	chr22	20761115	20761115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctcagcacatactacGtgcctggcagcctgctgggt	7	9	11	14	1	1	0	1	0	0	0	1	0	1	0	3	2	7	4	3	2	2	2	rs548640768		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:20761115G>A	ENST00000400451.2	+	5	2306	c.1792G>A	c.(1792-1794)Gtg>Atg	p.V598M	ZNF74_ENST00000356671.5_Missense_Mutation_p.V598M|ZNF74_ENST00000405993.1_Missense_Mutation_p.V566M|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	598					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			cacatactacgtgcctggcag	0.612													G|||	1	0.000199681	8e-04	0	5008	,	,		21569	0		0	False		,,,				2504	0					ENST00000400451.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1792-1794)Gtg>Atg		zinc finger protein 74							44	50	48					22																	20761115		2146	4261	6407	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20761115G>A	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"Zinc fingers, C2H2-type", "-"	13144	protein-coding gene	gene with protein product		194548	"zinc finger protein 74 (Cos52)"			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.1792G>A	22.37:g.20761115G>A	ENSP00000383301:p.Val598Met					ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.V598M|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.V566M	p.V598M	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		5	2306	+	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)	598					B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.1792G>A	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	G	5.943	0.357914	0.11239	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.06371	3.41;3.41;3.31	4.17	-5.72	0.02406	.	0.942976	0.08673	N	0.910542	T	0.04182	0.0116	N	0.16790	0.44	0.09310	N	1	B	0.22003	0.063	B	0.13407	0.009	T	0.40232	-0.9574	10	0.56958	D	0.05	.	12.2036	0.54340	0.6767:0.0:0.3233:0.0	.	598	Q16587	ZNF74_HUMAN	M	598;598;566	ENSP00000383301:V598M;ENSP00000349098:V598M;ENSP00000385855:V566M	ENSP00000349098:V598M	V	+	1	0	ZNF74	19091115	0.000000	0.05858	0.001000	0.08648	0.113000	0.19764	-1.319000	0.02702	-1.085000	0.03088	-0.140000	0.14226	GTG		0.612	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		8	26	0	0	0	1	0	8	26					A	20761115	G	A	20761115	3	1	435	1	0	0	0	0	1	0	0	0	18124	1145	40	1	1810	1	ZNF74	22	20761115	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1190	20761115	30543451	8852	29777											
KLHL22	84861	broad.mit.edu	37	chr22	20800831	20800831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgccaggcgcgccgcacagGcccatcagccagtgtgtgcc	6	5	14	16	3	1	0	1	0	0	0	1	0	1	0	5	2	3	1	5	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:20800831G>A	ENST00000328879.4	-	6	1594	c.1438C>T	c.(1438-1440)Cct>Tct	p.P480S	KLHL22_ENST00000440659.2_Missense_Mutation_p.P337S	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	480					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGCCGCACAGGCCCATCAGCC	0.592																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1438-1440)Cct>Tct		kelch-like family member 22							186	144	158					22																	20800831		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20800831G>A		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"Kelch-like", "BTB/POZ domain containing"	25888	protein-coding gene	gene with protein product			"kelch-like 22 (Drosophila)"			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1438C>T	22.37:g.20800831G>A	ENSP00000331682:p.Pro480Ser					KLHL22_ENST00000440659.2_Missense_Mutation_p.P337S	p.P480S	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		6	1594	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	480					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.1438C>T	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972548	0.92919	.	.	ENSG00000099910	ENST00000328879;ENST00000440659	T;T	0.64991	-0.13;-0.13	5.67	5.67	0.87782	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.71779	0.3380	L	0.53671	1.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65146	-0.6239	10	0.02654	T	1	.	17.2701	0.87098	0.0:0.0:1.0:0.0	.	480	Q53GT1	KLH22_HUMAN	S	480;337	ENSP00000331682:P480S;ENSP00000405521:P337S	ENSP00000331682:P480S	P	-	1	0	KLHL22	19130831	1.000000	0.71417	0.702000	0.30337	0.998000	0.95712	9.177000	0.94849	2.687000	0.91594	0.563000	0.77884	CCT		0.592	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		29	38	0	0	0	1	0	29	38					A	20800831	G	A	20800831	3	1	435	1	0	0	0	0	1	0	0	0	8377	1203	42	3	474	3	KLHL22	22	20800831	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	39716	20800831	30503735	8853	29778											
MED15	51586	broad.mit.edu	37	chr22	20929464	20929464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggttcccgcctaccaccgCtgtgtccgccatcccgtcaa	5	8	8	20	5	1	0	1	0	0	0	4	0	4	0	8	1	1	2	8	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:20929464C>T	ENST00000263205.7	+	9	1286	c.1217C>T	c.(1216-1218)gCt>gTt	p.A406V	MED15_ENST00000406969.1_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000292733.7_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	406	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			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)			CCTACCACCGCTGTGTCCGCC	0.627																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1216-1218)gCt>gTt		mediator complex subunit 15							105	91	95					22																	20929464		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20929464C>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1217C>T	22.37:g.20929464C>T	ENSP00000263205:p.Ala406Val					MED15_ENST00000541476.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000406969.1_Intron	p.A406V	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		9	1286	+	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)	406			Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1217C>T	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121143	0.56613	.	.	ENSG00000099917	ENST00000263205;ENST00000542312	.	.	.	5.29	5.29	0.74685	Mediator complex, subunit Med15, metazoa (1);	1.094130	0.06877	N	0.801877	T	0.40272	0.1110	N	0.19112	0.55	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.002;0.004	T	0.18429	-1.0337	9	0.02654	T	1	.	9.9613	0.41697	0.0:0.9072:0.0:0.0928	.	352;406	B4DGD6;Q96RN5	.;MED15_HUMAN	V	406;352	.	ENSP00000263205:A406V	A	+	2	0	MED15	19259464	0.788000	0.28762	0.028000	0.17463	0.885000	0.51271	3.183000	0.50918	2.484000	0.83849	0.591000	0.81541	GCT		0.627	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		4	64	0	0	0	1	0	4	64					T	20929464	C	T	20929464	3	4	435	1	0	0	0	0	1	0	0	0	9433	797	28	3	1251	3	MED15	22	20929464	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	128633	20929464	30375102	8854	29779											
MED15	51586	broad.mit.edu	37	chr22	20940935	20940935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacaagcactcggtcaccGccttgctcaacacctgggcc	8	6	10	17	3	2	0	2	0	0	0	3	1	2	1	4	3	3	2	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:20940935G>A	ENST00000263205.7	+	18	2380	c.2311G>A	c.(2311-2313)Gcc>Acc	p.A771T	MED15_ENST00000406969.1_Missense_Mutation_p.A705T|MED15_ENST00000425759.2_Missense_Mutation_p.A620T|MED15_ENST00000541476.1_Missense_Mutation_p.A705T|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.A660T|MED15_ENST00000292733.7_Missense_Mutation_p.A731T	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	771					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			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)			CTCGGTCACCGCCTTGCTCAA	0.672																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(2311-2313)Gcc>Acc		mediator complex subunit 15							61	58	59					22																	20940935		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20940935G>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.2311G>A	22.37:g.20940935G>A	ENSP00000263205:p.Ala771Thr					MED15_ENST00000541476.1_Missense_Mutation_p.A705T|MED15_ENST00000425759.2_Missense_Mutation_p.A620T|MED15_ENST00000292733.7_Missense_Mutation_p.A731T|MED15_ENST00000382974.2_Missense_Mutation_p.A660T|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000406969.1_Missense_Mutation_p.A705T	p.A771T	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		18	2380	+	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)	771					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.2311G>A	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483591	0.63962	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	5.67	5.67	0.87782	Mediator complex, subunit Med15, metazoa (1);	0.116944	0.56097	D	0.000022	T	0.69214	0.3086	L	0.52126	1.63	0.80722	D	1	D;D;B;D;B;D	0.89917	0.995;0.999;0.125;0.999;0.433;1.0	P;D;B;D;B;D	0.67103	0.83;0.949;0.019;0.915;0.049;0.949	T	0.66822	-0.5826	9	0.40728	T	0.16	.	15.2608	0.73621	0.0:0.0:1.0:0.0	.	701;750;387;705;731;771	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	T	620;731;771;705;660;705;701	.	ENSP00000263205:A771T	A	+	1	0	MED15	19270935	1.000000	0.71417	0.994000	0.49952	0.712000	0.41017	7.675000	0.84002	2.686000	0.91538	0.561000	0.74099	GCC		0.672	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		24	28	0	0	0	1	0	24	28					A	20940935	G	A	20940935	3	1	435	1	0	0	0	0	1	0	0	0	9433	1087	38	1	2381	1	MED15	22	20940935	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11471	20940935	30363631	8855	29780											
PI4KA	5297	broad.mit.edu	37	chr22	21174145	21174145	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaacgcccaaatgctcgCgagattcctatcaggcatgg	10	9	10	12	3	1	1	1	0	0	1	3	2	2	1	2	2	2	3	2	2	3	3	rs140108411		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:21174145C>T	ENST00000572273.1	-	6	629	c.399G>A	c.(397-399)tcG>tcA	p.S133S	PI4KA_ENST00000255882.6_Silent_p.S191S			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	133					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			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)			CAAATGCTCGCGAGATTCCTA	0.433																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				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						c.(571-573)tcG>tcA		phosphatidylinositol 4-kinase, catalytic, alpha		C		1,4405	2.1+/-5.4	0,1,2202	153	140	144		399	-10	0.2	22	dbSNP_134	144	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PI4KA	NM_058004.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		133/2045	21174145	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21174145C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.399G>A	22.37:g.21174145C>T						PI4KA_ENST00000572273.1_Silent_p.S133S	p.S191S	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		6	659	-	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)	133					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.573G>A																																																																																					0.433	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		7	99	0	0	0	1	0	7	99					T	21174145	C	T	21174145	2	4	435	1	0	0	0	0	0	0	0	1	11873	755	27	1		1	PI4KA	22	21174145	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	233210	21174145	30130421	8856	29781											
HIC2	23119	broad.mit.edu	37	chr22	21800813	21800813	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgtggcaaaatgttcacGcagcgcggcaccatgacgcg	10	7	12	12	5	2	1	1	1	1	0	2	1	2	1	1	2	1	4	1	2	2	1	rs41282575	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:21800813G>A	ENST00000443632.2	+	2	2001	c.1629G>A	c.(1627-1629)acG>acA	p.T543T	HIC2_ENST00000407464.2_Silent_p.T543T|HIC2_ENST00000407598.2_Silent_p.T543T			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	543					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			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)				AAATGTTCACGCAGCGCGGCA	0.632													G|||	5	0.000998403	0.0038	0	5008	,	,		18234	0		0	False		,,,				2504	0				NSCLC(23;437 858 2282 27947 40366)	ENST00000443632.2																			0				NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1627-1629)acG>acA		hypermethylated in cancer 2		G		5,4401	9.9+/-24.2	0,5,2198	71	65	67		1629	-9	0.9	22	dbSNP_127	67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HIC2	NM_015094.2		0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461		543/616	21800813	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21800813G>A	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1629G>A	22.37:g.21800813G>A						HIC2_ENST00000407598.2_Silent_p.T543T|HIC2_ENST00000407464.2_Silent_p.T543T	p.T543T			Q96JB3	HIC2_HUMAN			2	2001	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	543					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Silent	SNP	ENST00000443632.2	37	c.1629G>A	CCDS13789.1																																																																																				0.632	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			17	21	0	0	0	1	0	17	21					A	21800813	G	A	21800813	2	1	435	1	0	0	0	0	0	0	0	1	7102	1074	38	1		1	HIC2	22	21800813	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	626668	21800813	29503753	8857	29782											
PPIL2	23759	broad.mit.edu	37	chr22	22039094	22039094	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctgaaaaatacaaatgcCgagacccgagagaccctgca	16	6	8	11	2	1	3	0	1	1	2	1	6	1	3	3	0	3	1	3	0	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:22039094C>T	ENST00000335025.8	+	10	697	c.606C>T	c.(604-606)gcC>gcT	p.A202A	PPIL2_ENST00000492445.2_Silent_p.A202A|PPIL2_ENST00000412327.1_Silent_p.A202A|PPIL2_ENST00000398831.3_Silent_p.A202A|PPIL2_ENST00000406385.1_Silent_p.A202A|PPIL2_ENST00000456792.2_Silent_p.A181A					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					ATACAAATGCCGAGACCCGAG	0.537																																						ENST00000406385.1																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17						c.(604-606)gcC>gcT		peptidylprolyl isomerase (cyclophilin)-like 2							44	45	45					22																	22039094		2203	4300	6503	SO:0001819	synonymous_variant	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22039094C>T		CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"U-box domain containing"	9261	protein-coding gene	gene with protein product	"U-box domain containing 7"	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.606C>T	22.37:g.22039094C>T						PPIL2_ENST00000492445.2_Silent_p.A202A|PPIL2_ENST00000456792.2_Silent_p.A181A|PPIL2_ENST00000398831.3_Silent_p.A202A|PPIL2_ENST00000412327.1_Silent_p.A202A|PPIL2_ENST00000335025.7_Silent_p.A202A	p.A202A			Q13356	PPIL2_HUMAN			10	666	+	Colorectal(54;0.105)		202						Silent	SNP	ENST00000335025.8	37	c.606C>T	CCDS13793.1																																																																																				0.537	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			16	24	0	0	0	1	0	16	24					T	22039094	C	T	22039094	2	4	435	1	0	0	0	0	0	0	0	1	12327	639	23	2		2	PPIL2	22	22039094	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	238281	22039094	29265472	8858	29783											
VPREB1	7441	broad.mit.edu	37	chr22	22599404	22599404	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccgccggccatgtcctcGgcccttggaaccacaatccg	7	6	10	18	4	0	0	0	0	0	0	3	1	2	1	7	3	2	0	7	3	2	1	rs201207008	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:22599404G>A	ENST00000403807.3	+	2	232	c.93G>A	c.(91-93)tcG>tcA	p.S31S	VPREB1_ENST00000302273.2_Silent_p.S30S			P12018	VPREB_HUMAN	pre-B lymphocyte 1	31	Framework-1.|Ig-like V-type.									large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CCATGTCCTCGGCCCTTGGAA	0.642													g|||	2	0.000399361	0	0	5008	,	,		17109	0.002		0	False		,,,				2504	0					ENST00000403807.3																			0				large_intestine(1)|liver(1)|lung(6)|skin(1)	9						c.(91-93)tcG>tcA		pre-B lymphocyte 1							81	79	80					22																	22599404		2203	4300	6503	SO:0001819	synonymous_variant	7441				immune response	extracellular region	antigen binding|protein binding	g.chr22:22599404G>A	M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	12709	protein-coding gene	gene with protein product		605141				3139558	Standard	NM_007128		Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.93G>A	22.37:g.22599404G>A						VPREB1_ENST00000302273.2_Silent_p.S30S	p.S31S			P12018	VPREB_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	232	+	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)	31			Framework-1.|Ig-like V-type.		B5MCG2	Silent	SNP	ENST00000403807.3	37	c.93G>A	CCDS13798.1																																																																																				0.642	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321101.1			16	29	0	0	0	1	0	16	29					A	22599404	G	A	22599404	2	1	435	1	0	0	0	0	0	0	0	1	17183	1103	39	2		2	VPREB1	22	22599404	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	560310	22599404	28705162	8859	29784											
ZNF280B	140883	broad.mit.edu	37	chr22	22842626	22842626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagagggctcctgggcagtGtggacattttcgatgtgaca	8	11	15	7	1	0	2	0	1	0	1	2	4	1	3	1	3	0	3	1	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:22842626G>A	ENST00000406426.1	-	4	1840	c.1098C>T	c.(1096-1098)caC>caT	p.H366H	ZNF280B_ENST00000360412.2_Silent_p.H366H			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CCTGGGCAGTGTGGACATTTT	0.512																																						ENST00000360412.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(1096-1098)caC>caT		zinc finger protein 280B							133	122	126					22																	22842626		2203	4300	6503	SO:0001819	synonymous_variant	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842626G>A	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"zinc finger protein 279", "suppressor of hairy wing homolog 2 (Drosophila)"	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1098C>T	22.37:g.22842626G>A						ZNF280B_ENST00000406426.1_Silent_p.H366H	p.H366H	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	1873	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	366						Silent	SNP	ENST00000406426.1	37	c.1098C>T	CCDS13799.1																																																																																				0.512	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		33	64	0	0	0	1	0	33	64					A	22842626	G	A	22842626	2	1	435	1	0	0	0	0	0	0	0	1	17812	1368	48	3		3	ZNF280B	22	22842626	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	243222	22842626	28461940	8860	29785											
GNAZ	2781	broad.mit.edu	37	chr22	23465564	23465564	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatccagtttgtcttcgaCgcggtgacagacgtcatcat	10	11	9	11	4	3	2	2	1	1	1	5	3	4	2	1	1	1	1	1	1	1	2	rs555717993	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:23465564C>T	ENST00000248996.4	+	3	1680	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	338					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			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)		TTGTCTTCGACGCGGTGACAG	0.562													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		18372	0		0	False		,,,				2504	0					ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(1012-1014)gaC>gaT		guanine nucleotide binding protein (G protein), alpha z polypeptide							128	94	105					22																	23465564		2203	4300	6503	SO:0001819	synonymous_variant	2781					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	g.chr22:23465564C>T		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.1014C>T	22.37:g.23465564C>T						RTDR1_ENST00000216036.4_Intron	p.D338D	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	3	1680	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		338					B2R6C1|Q4QRJ6	Silent	SNP	ENST00000248996.4	37	c.1014C>T	CCDS13804.1																																																																																				0.562	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		13	18	0	0	0	1	0	13	18					T	23465564	C	T	23465564	2	4	435	1	0	0	0	0	0	0	0	1	6514	535	19	1		1	GNAZ	22	23465564	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	622938	23465564	27839002	8861	29786											
RTDR1	27156	broad.mit.edu	37	chr22	23476327	23476327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcgtgctctagaaaggCgtatctagggaagggagggt	10	9	17	5	2	2	1	0	0	2	1	3	4	2	3	0	4	1	2	0	4	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:23476327C>T	ENST00000216036.4	-	4	503	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	Metazoa_SRP_ENST00000606537.1_RNA|AC000029.1_ENST00000408142.1_RNA	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		103										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TCTAGAAAGGCGTATCTAGGG	0.557																																						ENST00000216036.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(307-309)Gcc>Acc		rhabdoid tumor deletion region gene 1							149	109	123					22																	23476327		2203	4300	6503	SO:0001583	missense	27156						binding	g.chr22:23476327C>T																												ENST00000216036.4:c.307G>A	22.37:g.23476327C>T	ENSP00000216036:p.Ala103Thr						p.A103T	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	4	503	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		103						Missense_Mutation	SNP	ENST00000216036.4	37	c.307G>A	CCDS13803.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.93|11.93	1.785258|1.785258	0.31593|0.31593	.|.	.|.	ENSG00000100218|ENSG00000100218	ENST00000216036|ENST00000439064	T|.	0.50548|.	0.74|.	5.07|5.07	2.97|2.97	0.34412|0.34412	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.885719|.	0.09608|.	N|.	0.779295|.	T|T	0.56016|0.56016	0.1957|0.1957	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	D;D|.	0.54964|.	0.96;0.969|.	P;P|.	0.47827|.	0.452;0.558|.	T|T	0.49872|0.49872	-0.8893|-0.8893	10|5	0.13470|.	T|.	0.59|.	-23.4251|-23.4251	9.7353|9.7353	0.40384|0.40384	0.0:0.8263:0.0:0.1737|0.0:0.8263:0.0:0.1737	.|.	124;103|.	B7Z5X4;Q9UHP6|.	.;RTDR1_HUMAN|.	T|H	103|27	ENSP00000216036:A103T|.	ENSP00000216036:A103T|.	A|R	-|-	1|2	0|0	RTDR1|RTDR1	21806327|21806327	0.851000|0.851000	0.29673|0.29673	0.329000|0.329000	0.25429|0.25429	0.015000|0.015000	0.08874|0.08874	1.427000|1.427000	0.34881|0.34881	0.795000|0.795000	0.33922|0.33922	0.643000|0.643000	0.83706|0.83706	GCC|CGC		0.557	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			7	12	0	0	0	1	0	7	12					T	23476327	C	T	23476327	3	4	435	1	0	0	0	0	1	0	0	0	13719	768	27	1	755	1	RTDR1	22	23476327	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10763	23476327	27828239	8862	29787											
BCR	613	broad.mit.edu	37	chr22	23596133	23596133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggggcagccgggatgCgctggtctcgggagccctgg	4	5	21	11	3	1	0	0	0	1	0	2	2	1	2	2	7	3	3	2	7	0	0	rs371224222		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:23596133C>T	ENST00000305877.8	+	2	2178	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V	BCR_ENST00000359540.3_Missense_Mutation_p.A476V	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	476					actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	AGCCGGGATGCGCTGGTCTCG	0.667			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								C|||	1	0.000199681	8e-04	0	5008	,	,		19249	0		0	False		,,,				2504	0					ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"ABL1,  FGFR1, JAK2 "		"CML, ALL, AML"	BCR/JAK2(6)	0				central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						c.(1426-1428)gCg>gTg		breakpoint cluster region		C	VAL/ALA,VAL/ALA	2,4392		0,2,2195	30	23	25		1427,1427	2.9	0	22		25	0,8580		0,0,4290	no	missense,missense	BCR	NM_021574.2,NM_004327.3	64,64	0,2,6485	TT,TC,CC		0.0,0.0455,0.0154	benign,benign	476/1228,476/1272	23596133	2,12972	2197	4290	6487	SO:0001583	missense	613				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	g.chr22:23596133C>T		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1427C>T	22.37:g.23596133C>T	ENSP00000303507:p.Ala476Val					BCR_ENST00000359540.3_Missense_Mutation_p.A476V	p.A476V	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN			2	2178	+			476					P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	c.1427C>T	CCDS13806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.83|13.83	2.353893|2.353893	0.41700|0.41700	4.55E-4|4.55E-4	0.0|0.0	ENSG00000186716|ENSG00000186716	ENST00000305877;ENST00000359540|ENST00000334149	T;T|.	0.26660|.	1.72;1.72|.	5.0|5.0	2.87|2.87	0.33458|0.33458	Dbl homology (DH) domain (1);|.	0.286641|.	0.31963|.	N|.	0.006781|.	T|T	0.38268|0.38268	0.1034|0.1034	N|N	0.08118|0.08118	0|0	0.54753|0.54753	D|D	0.999986|0.999986	B;B;B|.	0.34200|.	0.152;0.441;0.313|.	B;B;B|.	0.31101|.	0.022;0.124;0.036|.	T|T	0.41574|0.41574	-0.9501|-0.9501	10|6	0.40728|0.56958	T|D	0.16|0.05	.|.	11.0205|11.0205	0.47715|0.47715	0.0:0.834:0.0:0.166|0.0:0.834:0.0:0.166	.|.	65;476;476|.	B4E065;P11274-2;P11274|.	.;.;BCR_HUMAN|.	V|C	476|141	ENSP00000303507:A476V;ENSP00000352535:A476V|.	ENSP00000303507:A476V|ENSP00000335450:R141C	A|R	+|+	2|1	0|0	BCR|BCR	21926133|21926133	0.323000|0.323000	0.24643|0.24643	0.002000|0.002000	0.10522|0.10522	0.314000|0.314000	0.28054|0.28054	3.948000|3.948000	0.56660|0.56660	1.245000|1.245000	0.43885|0.43885	0.591000|0.591000	0.81541|0.81541	GCG|CGC		0.667	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		7	9	0	0	0	1	0	7	9					T	23596133	C	T	23596133	3	4	435	1	0	0	0	0	1	0	0	0	1388	768	27	1	1433	1	BCR	22	23596133	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	119806	23596133	27708433	8863	29788											
IGLL1	3543	broad.mit.edu	37	chr22	23915577	23915577	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggtagctgctggccgcgTacttgttgttgctctgtttg	3	16	13	9	2	2	0	1	0	1	0	2	0	2	0	1	2	4	8	1	2	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:23915577T>C	ENST00000330377.2	-	3	635	c.518A>G	c.(517-519)tAc>tGc	p.Y173C	AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000454863.1_RNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	173	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GCTGGCCGCGTACTTGTTGTT	0.602																																						ENST00000330377.2																			0				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						c.(517-519)tAc>tGc		immunoglobulin lambda-like polypeptide 1							116	103	107					22																	23915577		2203	4300	6503	SO:0001583	missense	3543				immune response	extracellular region|membrane		g.chr22:23915577T>C	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.518A>G	22.37:g.23915577T>C	ENSP00000329312:p.Tyr173Cys					IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000458318.1_RNA	p.Y173C	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN			3	635	-			173			C region (By similarity to lambda light- chain).|Ig-like C1-type.		Q0P681	Missense_Mutation	SNP	ENST00000330377.2	37	c.518A>G	CCDS13809.1	.	.	.	.	.	.	.	.	.	.	-	9.756	1.168776	0.21621	.	.	ENSG00000128322	ENST00000330377;ENST00000438703	T;T	0.06068	3.35;3.35	2.45	2.45	0.29901	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000092	T	0.32793	0.0841	H	0.96805	3.885	0.41894	D	0.990388	D	0.63880	0.993	D	0.73380	0.98	T	0.38564	-0.9655	10	0.87932	D	0	.	8.7605	0.34672	0.0:0.0:0.0:1.0	.	173	P15814	IGLL1_HUMAN	C	173;174	ENSP00000329312:Y173C;ENSP00000403391:Y174C	ENSP00000329312:Y173C	Y	-	2	0	IGLL1	22245577	0.978000	0.34361	0.519000	0.27824	0.008000	0.06430	1.817000	0.39002	1.119000	0.41883	0.139000	0.15985	TAC		0.602	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070		26	50	0	0	0	1	0	26	50					C	23915577	T	C	23915577	3	2	435	1	0	0	0	0	1	0	0	0	7593	1638	57	4	127	4	IGLL1	22	23915577	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	319444	23915577	27388989	8864	29789											
ZNF70	7621	broad.mit.edu	37	chr22	24086194	24086194	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attctctggtgctggatcagCgcagagctgtggcaaaaggc	9	9	14	9	1	2	1	1	0	1	1	3	2	2	2	0	4	3	4	0	4	2	1	rs368570781		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:24086194C>T	ENST00000341976.3	-	2	1594	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GCTGGATCAGCGCAGAGCTGT	0.582																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(1132-1134)gcG>gcA		zinc finger protein 70		C		0,4406		0,0,2203	104	92	96		1134	-6.3	0	22		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF70	NM_021916.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		378/447	24086194	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086194C>T	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"Zinc fingers, C2H2-type"	13140	protein-coding gene	gene with protein product		194544	"zinc finger protein 70 (Cos17)"			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.1134G>A	22.37:g.24086194C>T							p.A378A	NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN			2	1594	-			378						Silent	SNP	ENST00000341976.3	37	c.1134G>A	CCDS13812.1																																																																																				0.582	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		28	40	0	0	0	1	0	28	40					T	24086194	C	T	24086194	2	4	435	1	0	0	0	0	0	0	0	1	18100	755	27	1		1	ZNF70	22	24086194	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	170617	24086194	27218372	8865	29790											
CABIN1	23523	broad.mit.edu	37	chr22	24562792	24562792	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgggcctcctcaaccaccgGcctgtggccatggatgcagg	6	7	14	14	1	1	0	1	0	0	0	2	1	2	1	6	5	2	1	6	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:24562792G>A	ENST00000398319.2	+	32	5578	c.5193G>A	c.(5191-5193)cgG>cgA	p.R1731R	CABIN1_ENST00000405822.2_Silent_p.R1652R|CABIN1_ENST00000263119.5_Silent_p.R1731R|CABIN1_ENST00000337989.7_Silent_p.R156R	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1731					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCAACCACCGGCCTGTGGCCA	0.667																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(5191-5193)cgG>cgA		calcineurin binding protein 1							39	43	42					22																	24562792		2203	4299	6502	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24562792G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.5193G>A	22.37:g.24562792G>A						CABIN1_ENST00000405822.2_Silent_p.R1652R|CABIN1_ENST00000263119.5_Silent_p.R1731R|CABIN1_ENST00000337989.7_Silent_p.R156R	p.R1731R	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			32	5578	+			1731					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.5193G>A	CCDS13823.1																																																																																				0.667	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		11	12	0	0	0	1	0	11	12					A	24562792	G	A	24562792	2	1	435	1	0	0	0	0	0	0	0	1	2528	1190	42	3		3	CABIN1	22	24562792	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	476598	24562792	26741774	8866	29791											
SUSD2	56241	broad.mit.edu	37	chr22	24580221	24580221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgacctggcatgtcaagtCgctgcccacgcagaccatca	9	7	9	16	2	2	2	2	1	0	1	3	2	2	2	4	1	1	3	4	1	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:24580221C>T	ENST00000358321.3	+	4	818	c.557C>T	c.(556-558)tCg>tTg	p.S186L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	186					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CATGTCAAGTCGCTGCCCACG	0.602																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(556-558)tCg>tTg		sushi domain containing 2							124	90	102					22																	24580221		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24580221C>T	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.557C>T	22.37:g.24580221C>T	ENSP00000351075:p.Ser186Leu						p.S186L	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			4	818	+			186					Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.557C>T	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581177	0.28180	.	.	ENSG00000099994	ENST00000358321	T	0.19669	2.13	3.66	-3.27	0.05048	.	0.932846	0.09116	N	0.846340	T	0.06735	0.0172	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31251	-0.9950	10	0.39692	T	0.17	-4.1883	1.4446	0.02361	0.1456:0.3971:0.1441:0.3131	.	186	Q9UGT4	SUSD2_HUMAN	L	186	ENSP00000351075:S186L	ENSP00000351075:S186L	S	+	2	0	SUSD2	22910221	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.446000	0.06837	-0.269000	0.09298	0.450000	0.29827	TCG		0.602	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		4	20	0	0	0	1	0	4	20					T	24580221	C	T	24580221	3	4	435	1	0	0	0	0	1	0	0	0	15405	893	31	2	571	2	SUSD2	22	24580221	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17429	24580221	26724345	8867	29792											
SUSD2	56241	broad.mit.edu	37	chr22	24582104	24582104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgagggtgcaggcgcgggCccagcccgggacgatgtcca	6	4	17	14	4	0	1	0	1	0	0	1	3	1	2	4	4	2	1	4	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:24582104C>T	ENST00000358321.3	+	9	1721	c.1460C>T	c.(1459-1461)gCc>gTc	p.A487V		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	487	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CAGGCGCGGGCCCAGCCCGGG	0.652																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1459-1461)gCc>gTc		sushi domain containing 2							19	20	20					22																	24582104		2201	4296	6497	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24582104C>T	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1460C>T	22.37:g.24582104C>T	ENSP00000351075:p.Ala487Val						p.A487V	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			9	1721	+			487			VWFD.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.1460C>T	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.736853	0.69304	.	.	ENSG00000099994	ENST00000358321	T	0.59083	0.29	5.05	5.05	0.67936	von Willebrand factor, type D domain (3);	0.167896	0.51477	D	0.000096	T	0.52869	0.1761	L	0.36672	1.1	0.40199	D	0.977495	P	0.46859	0.885	P	0.48770	0.589	T	0.44742	-0.9308	10	0.12103	T	0.63	-28.2626	14.3393	0.66614	0.0:1.0:0.0:0.0	.	487	Q9UGT4	SUSD2_HUMAN	V	487	ENSP00000351075:A487V	ENSP00000351075:A487V	A	+	2	0	SUSD2	22912104	0.403000	0.25319	0.786000	0.31890	0.561000	0.35649	5.043000	0.64208	2.546000	0.85860	0.555000	0.69702	GCC		0.652	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		8	11	0	0	0	1	0	8	11					T	24582104	C	T	24582104	3	4	435	1	0	0	0	0	1	0	0	0	15405	739	26	3	1494	3	SUSD2	22	24582104	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1883	24582104	26722462	8868	29793											
CYTSA	23384	broad.mit.edu	37	chr22	24718719	24718719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaatgaaaagcagaaagtgGcagagctgtattctatccat	16	9	10	6	0	1	4	0	1	1	3	2	4	2	4	1	1	2	4	1	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:24718719G>A	ENST00000314328.9	+	5	2056	c.1771G>A	c.(1771-1773)Gca>Aca	p.A591T	SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Missense_Mutation_p.A591T|SPECC1L_ENST00000437398.1_Missense_Mutation_p.A591T|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.A591T	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	591					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GCAGAAAGTGGCAGAGCTGTA	0.478																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(1771-1773)Gca>Aca		sperm antigen with calponin homology and coiled-coil domains 1-like							74	76	76					22																	24718719		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24718719G>A	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.1771G>A	22.37:g.24718719G>A	ENSP00000325785:p.Ala591Thr					KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.A591T|SPECC1L_ENST00000541492.1_Missense_Mutation_p.A591T|SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000437398.1_Missense_Mutation_p.A591T	p.A591T	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			5	2056	+			591					B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.1771G>A	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692372	0.68271	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.61274	0.12;2.61;0.12;3.12	5.71	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	M	0.65498	2.005	0.80722	D	1	P;D	0.63880	0.909;0.993	P;D	0.74674	0.555;0.984	T	0.69079	-0.5240	10	0.24483	T	0.36	-22.0425	14.0124	0.64505	0.0726:0.0:0.9274:0.0	.	591;591	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	T	619;591;591;591;591	ENSP00000393363:A591T;ENSP00000405671:A591T;ENSP00000325785:A591T;ENSP00000439633:A591T	ENSP00000325785:A591T	A	+	1	0	SPECC1L	23048719	1.000000	0.71417	0.997000	0.53966	0.836000	0.47400	4.764000	0.62264	1.432000	0.47375	-0.137000	0.14449	GCA		0.478	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		25	40	0	0	0	1	0	25	40					A	24718719	G	A	24718719	3	1	435	1	0	0	0	0	1	0	0	0	4209	1203	42	3	1781	3	CYTSA	22	24718719	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	136615	24718719	26585847	8869	29794											
CYTSA	23384	broad.mit.edu	37	chr22	24726235	24726235	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaatataggaagaatctgcGgaatggcggcagtttcaggc	12	10	13	6	2	2	1	1	0	1	1	2	3	2	3	0	5	1	2	0	5	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:24726235G>A	ENST00000314328.9	+	8	2517	c.2232G>A	c.(2230-2232)gcG>gcA	p.A744A	SPECC1L_ENST00000541492.1_Silent_p.A744A|SPECC1L_ENST00000437398.1_Silent_p.A744A|SPECC1L-ADORA2A_ENST00000358654.2_Silent_p.A744A	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	744					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AAGAATCTGCGGAATGGCGGC	0.363																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(2230-2232)gcG>gcA		sperm antigen with calponin homology and coiled-coil domains 1-like							89	100	96					22																	24726235		2203	4300	6503	SO:0001819	synonymous_variant	23384				cell cycle|cell division			g.chr22:24726235G>A	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.2232G>A	22.37:g.24726235G>A						KB-1896H10.1_ENST00000358654.2_Silent_p.A744A|SPECC1L_ENST00000541492.1_Silent_p.A744A|SPECC1L_ENST00000437398.1_Silent_p.A744A	p.A744A	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			8	2517	+			744					B7Z758|F5H1H6|O15081	Silent	SNP	ENST00000314328.9	37	c.2232G>A	CCDS33619.1																																																																																				0.363	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		49	81	0	0	0	1	0	49	81					A	24726235	G	A	24726235	2	1	435	1	0	0	0	0	0	0	0	1	4209	1103	39	2		2	CYTSA	22	24726235	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7516	24726235	26578331	8870	29795											
CYTSA	23384	broad.mit.edu	37	chr22	24761566	24761566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctgtcctcttctccaacgGcatctgtgactcccaccacc	6	10	5	20	1	3	1	0	1	3	0	6	1	5	1	6	1	1	1	6	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:24761566G>A	ENST00000314328.9	+	13	3235	c.2950G>A	c.(2950-2952)Gca>Aca	p.A984T	SPECC1L_ENST00000541492.1_Missense_Mutation_p.A984T|SPECC1L_ENST00000437398.1_Missense_Mutation_p.A984T|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	984					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TTCTCCAACGGCATCTGTGAC	0.507																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(2950-2952)Gca>Aca		sperm antigen with calponin homology and coiled-coil domains 1-like							134	101	112					22																	24761566		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24761566G>A	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.2950G>A	22.37:g.24761566G>A	ENSP00000325785:p.Ala984Thr					KB-1896H10.1_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Missense_Mutation_p.A984T|SPECC1L_ENST00000437398.1_Missense_Mutation_p.A984T	p.A984T	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			13	3235	+			984					B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.2950G>A	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052547	0.75960	.	.	ENSG00000100014	ENST00000437398;ENST00000314328;ENST00000541492	T;T;T	0.60424	0.19;0.19;3.13	5.55	5.55	0.83447	.	0.107462	0.64402	D	0.000005	T	0.42426	0.1202	N	0.08118	0	0.80722	D	1	P;B	0.39181	0.663;0.384	B;B	0.38954	0.286;0.07	T	0.45991	-0.9223	10	0.41790	T	0.15	-21.7724	18.4846	0.90824	0.0:0.0:1.0:0.0	.	984;984	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	T	984	ENSP00000393363:A984T;ENSP00000325785:A984T;ENSP00000439633:A984T	ENSP00000325785:A984T	A	+	1	0	SPECC1L	23091566	1.000000	0.71417	0.519000	0.27824	0.983000	0.72400	8.241000	0.89816	2.608000	0.88229	0.591000	0.81541	GCA		0.507	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		4	96	0	0	0	1	0	4	96					A	24761566	G	A	24761566	3	1	435	1	0	0	0	0	1	0	0	0	4209	1203	42	3	2992	3	CYTSA	22	24761566	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	35331	24761566	26543000	8871	29796											
ADORA2A	135	broad.mit.edu	37	chr22	24829532	24829532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactggcggcggccgacatcGcagtgggtgtgctcgccatc	5	7	15	14	5	0	0	0	0	0	0	3	1	0	0	2	4	1	2	2	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:24829532G>A	ENST00000337539.7	+	2	619	c.160G>A	c.(160-162)Gca>Aca	p.A54T	ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	54					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	GGCCGACATCGCAGTGGGTGT	0.617																																						ENST00000337539.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21						c.(160-162)Gca>Aca		adenosine A2a receptor	Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)						165	108	128					22																	24829532		2203	4300	6503	SO:0001583	missense	135				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding	g.chr22:24829532G>A	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"GPCR / Class A : Adenosine receptors"	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.160G>A	22.37:g.24829532G>A	ENSP00000336630:p.Ala54Thr					KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000543438.1_RNA	p.A54T	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN			2	619	+	Colorectal(2;0.196)		54					B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	c.160G>A	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426035	0.83667	.	.	ENSG00000128271	ENST00000424232;ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596;ENST00000436735;ENST00000439591	T;T;T;T;T	0.37235	1.21;2.12;2.12;1.21;1.21	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	L	0.60012	1.86	0.54753	D	0.999989	D	0.76494	0.999	D	0.66716	0.946	T	0.52734	-0.8536	10	0.39692	T	0.17	-14.3775	16.4299	0.83839	0.0:0.0:1.0:0.0	.	54	P29274	AA2AR_HUMAN	T	54	ENSP00000404497:A54T;ENSP00000414802:A54T;ENSP00000336630:A54T;ENSP00000397071:A54T;ENSP00000400190:A54T	ENSP00000336630:A54T	A	+	1	0	ADORA2A	23159532	1.000000	0.71417	0.717000	0.30585	0.515000	0.34225	7.436000	0.80404	2.350000	0.79820	0.561000	0.74099	GCA		0.617	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		4	74	0	0	0	1	0	4	74					A	24829532	G	A	24829532	3	1	435	1	0	0	0	0	1	0	0	0	327	1087	38	1	162	1	ADORA2A	22	24829532	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	67966	24829532	26475034	8872	29797											
C22orf36	2678	broad.mit.edu	37	chr22	24982100	24982100	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagggaacttggtggtGtccttgatggcatcagtgag	10	10	15	6	0	1	2	1	2	0	0	2	3	2	3	1	4	2	2	1	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:24982100G>A	ENST00000248923.4	+	1	59				FAM211B_ENST00000318753.8_Silent_p.D234D|FAM211B_ENST00000495297.1_5'Flank	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ACTTGGTGGTGTCCTTGATGG	0.677																																						ENST00000318753.8																			0											c.(700-702)gaC>gaT		family with sequence similarity 211, member B							104	119	114					22																	24982100		2149	4252	6401	SO:0001627	intron_variant	388886							g.chr22:24982100G>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+2324G>A	22.37:g.24982100G>A						GGT1_ENST00000248923.4_Intron	p.D234D	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN			4	725	-			234					Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000248923.4	37	c.702C>T	CCDS42992.1																																																																																				0.677	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430		15	102	0	0	0	1	0	15	102					A	24982100	G	A	24982100	1	1	435	0	1	0	0	0	0	0	0	0	2146	1368	48	3		3	C22orf36	22	24982100	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	152568	24982100	26322466	8873	29798											
SGSM1	129049	broad.mit.edu	37	chr22	25294511	25294511	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcccctgtgtcttccagCggcgtcacctactctgtaag	5	12	10	14	2	3	0	1	0	2	0	5	0	5	0	4	1	2	1	4	1	2	3	rs192179009	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:25294511C>T	ENST00000400359.4	+	20	2767	c.2760C>T	c.(2758-2760)agC>agT	p.S920S	SGSM1_ENST00000400358.4_Silent_p.S865S|SNORD56_ENST00000362913.1_RNA	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	920	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			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						TGTCTTCCAGCGGCGTCACCT	0.547													C|||	2	0.000399361	0	0.0014	5008	,	,		18284	0		0.001	False		,,,				2504	0					ENST00000400358.4																			0				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						c.(2593-2595)agC>agT		small G protein signaling modulator 1		C	,,,	1,4071		0,1,2035	61	64	63		2760,2595,2412,2577	-6.6	0.5	22		63	12,8358		0,12,4173	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SGSM1	NM_001039948.2,NM_001098497.1,NM_001098498.1,NM_133454.2	,,,	0,13,6208	TT,TC,CC		0.1434,0.0246,0.1045	,,,	920/1149,865/1094,804/1033,859/1088	25294511	13,12429	2036	4185	6221	SO:0001819	synonymous_variant	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25294511C>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2760C>T	22.37:g.25294511C>T						SGSM1_ENST00000400359.4_Silent_p.S920S	p.S865S	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			19	2652	+			920			Rab-GAP TBC.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	c.2595C>T	CCDS46674.1																																																																																				0.547	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		30	45	0	0	0	1	0	30	45					T	25294511	C	T	25294511	2	4	435	1	0	0	0	0	0	0	0	1	14222	767	27	1		1	SGSM1	22	25294511	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	312411	25294511	26010055	8874	29799											
SGSM1	129049	broad.mit.edu	37	chr22	25315923	25315923	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgacatcattttggagaaCaacatggatttcacagacat	14	11	8	8	1	2	3	2	1	0	2	2	5	2	4	0	2	2	0	0	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:25315923C>T	ENST00000400359.4	+	25	3328	c.3321C>T	c.(3319-3321)aaC>aaT	p.N1107N	SGSM1_ENST00000400358.4_Silent_p.N1052N	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1107						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			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						TTTTGGAGAACAACATGGATT	0.527																																						ENST00000400358.4																			0				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						c.(3154-3156)aaC>aaT		small G protein signaling modulator 1							90	84	86					22																	25315923		2061	4207	6268	SO:0001819	synonymous_variant	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25315923C>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.3321C>T	22.37:g.25315923C>T						SGSM1_ENST00000400359.4_Silent_p.N1107N	p.N1052N	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			24	3213	+			1107			Rab-GAP TBC.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	c.3156C>T	CCDS46674.1																																																																																				0.527	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		5	14	0	0	0	1	0	5	14					T	25315923	C	T	25315923	2	4	435	1	0	0	0	0	0	0	0	1	14222	477	17	3		3	SGSM1	22	25315923	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21412	25315923	25988643	8875	29800											
MYO18B	84700	broad.mit.edu	37	chr22	26164705	26164705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagcccaagggcccggCgagggggtgcgaccagggaa	9	1	17	14	3	0	0	0	0	0	0	0	3	0	1	5	5	2	0	5	5	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:26164705C>T	ENST00000407587.2	+	4	991	c.822C>T	c.(820-822)ggC>ggT	p.G274G	MYO18B_ENST00000536101.1_Silent_p.G274G|MYO18B_ENST00000335473.7_Silent_p.G274G			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	274						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AAGGGCCCGGCGAGGGGGTGC	0.632																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(820-822)ggC>ggT		myosin XVIIIB																																				SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26164705C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.822C>T	22.37:g.26164705C>T						MYO18B_ENST00000407587.2_Silent_p.G274G|MYO18B_ENST00000536101.1_Silent_p.G274G	p.G274G	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			4	1072	+			274					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.822C>T																																																																																					0.632	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		3	7	0	0	0	1	0	3	7					T	26164705	C	T	26164705	2	4	435	1	0	0	0	0	0	0	0	1	10066	755	27	1		1	MYO18B	22	26164705	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	848782	26164705	25139861	8876	29801											
MYO18B	84700	broad.mit.edu	37	chr22	26173714	26173714	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtcctggaacacctggtGgggatggcaggcagtgtgga	8	7	18	8	0	0	0	0	0	0	0	1	3	1	3	2	8	1	2	2	8	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:26173714G>A	ENST00000407587.2	+	8	2203	c.2034G>A	c.(2032-2034)gtG>gtA	p.V678V	MYO18B_ENST00000536101.1_Silent_p.V678V|MYO18B_ENST00000335473.7_Silent_p.V678V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	678	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AACACCTGGTGGGGATGGCAG	0.627																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(2032-2034)gtG>gtA		myosin XVIIIB							91	101	97					22																	26173714		2096	4215	6311	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26173714G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2034G>A	22.37:g.26173714G>A						MYO18B_ENST00000407587.2_Silent_p.V678V|MYO18B_ENST00000536101.1_Silent_p.V678V	p.V678V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			8	2284	+			678			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.2034G>A																																																																																					0.627	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		13	45	0	0	0	1	0	13	45					A	26173714	G	A	26173714	2	1	435	1	0	0	0	0	0	0	0	1	10066	1335	47	3		3	MYO18B	22	26173714	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9009	26173714	25130852	8877	29802											
MYO18B	84700	broad.mit.edu	37	chr22	26291196	26291196	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaagcgtctgcagcaatgCgaggagaggctggactcgga	12	5	16	8	3	1	2	0	0	1	2	2	6	1	4	0	4	4	3	0	4	2	0	rs368416287		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:26291196C>T	ENST00000407587.2	+	28	4789	c.4620C>T	c.(4618-4620)tgC>tgT	p.C1540C	CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|MYO18B_ENST00000536101.1_Silent_p.C1539C|CTA-125H2.2_ENST00000608507.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000596813.1_RNA|MYO18B_ENST00000335473.7_Silent_p.C1539C|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1539	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGCAGCAATGCGAGGAGAGGC	0.557																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(4615-4617)tgC>tgT		myosin XVIIIB		C		1,4263		0,1,2131	34	40	38		4617	-10.5	0	22		38	1,8499		0,1,4249	no	coding-synonymous	MYO18B	NM_032608.5		0,2,6380	TT,TC,CC		0.0118,0.0235,0.0157		1539/2568	26291196	2,12762	2132	4250	6382	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26291196C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4620C>T	22.37:g.26291196C>T						MYO18B_ENST00000407587.2_Silent_p.C1540C|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|MYO18B_ENST00000536101.1_Silent_p.C1539C|CTA-125H2.2_ENST00000597614.1_RNA	p.C1539C	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			28	4867	+			1539			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.4617C>T																																																																																					0.557	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		6	5	0	0	0	1	0	6	5					T	26291196	C	T	26291196	2	4	435	1	0	0	0	0	0	0	0	1	10066	776	27	1		1	MYO18B	22	26291196	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	117482	26291196	25013370	8878	29803											
HPS4	89781	broad.mit.edu	37	chr22	26860178	26860178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctctgtcctggatctaagCgaggcaataacaagggcctg	10	9	11	11	1	2	0	0	0	2	0	4	2	3	1	2	3	2	1	2	3	4	2	rs139039617		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:26860178C>T	ENST00000398145.2	-	11	2034	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	HPS4_ENST00000398141.1_Missense_Mutation_p.R486H|HPS4_ENST00000402105.3_Missense_Mutation_p.R468H|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000336873.5_Missense_Mutation_p.R473H	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	473					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TGGATCTAAGCGAGGCAATAA	0.592									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1417-1419)cGc>cAc		Hermansky-Pudlak syndrome 4		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	133	130	131		1418,1403	-1.5	0	22	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HPS4	NM_022081.4,NM_152841.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	473/709,468/704	26860178	1,13005	2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26860178C>T		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1418G>A	22.37:g.26860178C>T	ENSP00000381213:p.Arg473His					HPS4_ENST00000402105.3_Missense_Mutation_p.R468H|HPS4_ENST00000336873.5_Missense_Mutation_p.R473H|HPS4_ENST00000398141.1_Missense_Mutation_p.R486H	p.R473H	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN			11	2034	-			473					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.1418G>A	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	C	9.764	1.170889	0.21621	0.0	1.16E-4	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873	T;T;T;T	0.32515	1.46;1.45;1.46;1.46	4.23	-1.51	0.08664	.	1.692980	0.02694	N	0.110997	T	0.18215	0.0437	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.10296	0.002;0.003;0.003;0.002;0.003;0.001	B;B;B;B;B;B	0.06405	0.001;0.002;0.002;0.001;0.002;0.002	T	0.11494	-1.0585	9	.	.	.	0.4393	2.5995	0.04863	0.4054:0.283:0.0:0.3116	.	473;473;473;473;486;468	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	H	473;486;468;473	ENSP00000381213:R473H;ENSP00000381210:R486H;ENSP00000384185:R468H;ENSP00000338457:R473H	.	R	-	2	0	HPS4	25190178	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.973000	0.01500	-0.018000	0.14079	-1.251000	0.01509	CGC		0.592	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		47	79	0	0	0	1	0	47	79					T	26860178	C	T	26860178	3	4	435	1	0	0	0	0	1	0	0	0	7341	768	27	1	724	1	HPS4	22	26860178	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	568982	26860178	24444388	8879	29804											
TFIP11	24144	broad.mit.edu	37	chr22	26888203	26888203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacagagctagcggccaCgccaatgcccctctgagcca	9	4	12	16	2	1	2	0	1	1	1	1	2	1	2	5	2	4	2	5	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:26888203C>T	ENST00000407690.1	-	15	2573	c.2290G>A	c.(2290-2292)Gtg>Atg	p.V764M	TFIP11_ENST00000407148.1_Missense_Mutation_p.V764M|TFIP11_ENST00000407431.1_Missense_Mutation_p.V764M|SRRD_ENST00000215917.7_3'UTR|TFIP11_ENST00000405938.1_Missense_Mutation_p.V764M	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	764					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTAGCGGCCACGCCAATGCCC	0.572																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(2290-2292)Gtg>Atg		tuftelin interacting protein 11							116	89	98					22																	26888203		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26888203C>T	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"G patch domain containing"	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.2290G>A	22.37:g.26888203C>T	ENSP00000384421:p.Val764Met					TFIP11_ENST00000407148.1_Missense_Mutation_p.V764M|TFIP11_ENST00000407431.1_Missense_Mutation_p.V764M|TFIP11_ENST00000405938.1_Missense_Mutation_p.V764M	p.V764M	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			15	2573	-			764					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.2290G>A	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592612	0.28357	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.39	4.36	0.52297	.	0.463445	0.22652	N	0.057304	T	0.25606	0.0623	N	0.14661	0.345	0.22330	N	0.999198	B;B	0.15473	0.001;0.013	B;B	0.11329	0.001;0.006	T	0.09596	-1.0667	10	0.45353	T	0.12	-26.6798	10.397	0.44207	0.0:0.8521:0.0:0.1479	.	764;123	Q9UBB9;Q9UBB9-2	TFP11_HUMAN;.	M	764;764;764;449;764	ENSP00000384421:V764M;ENSP00000383892:V764M;ENSP00000385861:V764M;ENSP00000384297:V764M	ENSP00000384297:V764M	V	-	1	0	TFIP11	25218203	0.040000	0.19996	0.952000	0.39060	0.887000	0.51463	0.409000	0.21082	2.804000	0.96469	0.655000	0.94253	GTG		0.572	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		20	26	0	0	0	1	0	20	26					T	26888203	C	T	26888203	3	4	435	1	0	0	0	0	1	0	0	0	15804	536	19	1	227	1	TFIP11	22	26888203	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	28025	26888203	24416363	8880	29805											
TFIP11	24144	broad.mit.edu	37	chr22	26890809	26890809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaagaagtcccaccaggCtagagacagagatcatccct	13	8	8	12	0	2	3	2	0	0	3	4	5	4	3	3	1	0	1	3	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:26890809C>T	ENST00000407690.1	-	13	2229	c.1946G>A	c.(1945-1947)aGc>aAc	p.S649N	TFIP11_ENST00000407148.1_Missense_Mutation_p.S649N|TFIP11_ENST00000407431.1_Missense_Mutation_p.S649N|TFIP11_ENST00000405938.1_Missense_Mutation_p.S649N	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	649					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TCCCACCAGGCTAGAGACAGA	0.502																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1945-1947)aGc>aAc		tuftelin interacting protein 11							112	94	100					22																	26890809		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26890809C>T	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"G patch domain containing"	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1946G>A	22.37:g.26890809C>T	ENSP00000384421:p.Ser649Asn					TFIP11_ENST00000407148.1_Missense_Mutation_p.S649N|TFIP11_ENST00000407431.1_Missense_Mutation_p.S649N|TFIP11_ENST00000405938.1_Missense_Mutation_p.S649N	p.S649N	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			13	2229	-			649					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.1946G>A	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517667	0.44763	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.43	5.43	0.79202	GC-rich sequence DNA-binding factor domain (1);	0.077604	0.85682	D	0.000000	T	0.60301	0.2258	M	0.63428	1.95	0.58432	D	0.999997	D	0.69078	0.997	D	0.77004	0.989	T	0.50311	-0.8843	10	0.13108	T	0.6	-42.2131	18.4159	0.90570	0.0:1.0:0.0:0.0	.	649	Q9UBB9	TFP11_HUMAN	N	649;649;649;334;649	ENSP00000384421:S649N;ENSP00000383892:S649N;ENSP00000385861:S649N;ENSP00000384297:S649N	ENSP00000384297:S649N	S	-	2	0	TFIP11	25220809	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.485000	0.66850	2.823000	0.97156	0.650000	0.86243	AGC		0.502	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		13	30	0	0	0	1	0	13	30					T	26890809	C	T	26890809	3	4	435	1	0	0	0	0	1	0	0	0	15804	797	28	3	579	3	TFIP11	22	26890809	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2606	26890809	24413757	8881	29806											
MN1	4330	broad.mit.edu	37	chr22	28146975	28146975	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggaccgccaggtgggcacGgaggctcgagccttggcgtc	6	5	18	12	4	0	0	0	0	0	0	2	3	0	2	3	6	1	2	3	6	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:28146975G>A	ENST00000302326.4	-	2	4845	c.3891C>T	c.(3889-3891)tcC>tcT	p.S1297S	MN1_ENST00000497225.1_5'UTR	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1297					intramembranous ossification (GO:0001957)					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						AGGTGGGCACGGAGGCTCGAG	0.582			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				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						c.(3889-3891)tcC>tcT		meningioma (disrupted in balanced translocation) 1							72	81	78					22																	28146975		2065	4203	6268	SO:0001819	synonymous_variant	4330						binding	g.chr22:28146975G>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3891C>T	22.37:g.28146975G>A						MN1_ENST00000497225.1_5'UTR	p.S1297S	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			2	4845	-			1297					A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.3891C>T	CCDS42998.1																																																																																				0.582	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		16	22	0	0	0	1	0	16	22					A	28146975	G	A	28146975	2	1	435	1	0	0	0	0	0	0	0	1	9673	1103	39	2		2	MN1	22	28146975	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1256166	28146975	23157591	8882	29807											
PITPNB	23760	broad.mit.edu	37	chr22	28293810	28293810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctacagtaggggtacgCattccaggctttctcatgaa	9	13	10	9	1	2	1	1	1	2	0	4	1	3	1	1	3	2	5	1	3	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:28293810C>T	ENST00000335272.5	-	4	344	c.268G>A	c.(268-270)Gcg>Acg	p.A90T	PITPNB_ENST00000455418.3_Missense_Mutation_p.A92T|PITPNB_ENST00000320996.10_Missense_Mutation_p.A90T	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	90					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)			large_intestine(4)|lung(3)|skin(1)	8						TAGGGGTACGCATTCCAGGCT	0.507																																						ENST00000335272.5																			0				large_intestine(4)|lung(3)|skin(1)	8						c.(268-270)Gcg>Acg		phosphatidylinositol transfer protein, beta							95	83	88					22																	28293810		2203	4300	6503	SO:0001583	missense	23760				lipid metabolic process|transport	Golgi apparatus	lipid binding	g.chr22:28293810C>T	D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976	ENST00000335272.5:c.268G>A	22.37:g.28293810C>T	ENSP00000334738:p.Ala90Thr					PITPNB_ENST00000455418.3_Missense_Mutation_p.A92T|PITPNB_ENST00000320996.10_Missense_Mutation_p.A90T	p.A90T	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN			4	344	-			90					B3KYB8|B7Z7Q0|Q8N5W1	Missense_Mutation	SNP	ENST00000335272.5	37	c.268G>A	CCDS13842.1	.	.	.	.	.	.	.	.	.	.	C	35	5.575804	0.96553	.	.	ENSG00000180957	ENST00000335272;ENST00000320996;ENST00000455418;ENST00000415296;ENST00000436663	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	5.95	4.92	0.64577	START-like domain (1);	0.046850	0.85682	D	0.000000	T	0.77116	0.4083	H	0.95745	3.715	0.80722	D	1	D;D;D	0.67145	0.986;0.996;0.992	P;P;P	0.57425	0.657;0.819;0.82	D	0.85137	0.0978	10	0.87932	D	0	-16.1502	15.0742	0.72063	0.1431:0.8569:0.0:0.0	.	92;90;90	B7Z7Q0;P48739-2;P48739	.;.;PIPNB_HUMAN	T	90;90;92;17;92	ENSP00000334738:A90T;ENSP00000321266:A90T;ENSP00000405179:A92T;ENSP00000406542:A17T;ENSP00000403675:A92T	ENSP00000321266:A90T	A	-	1	0	PITPNB	26623810	1.000000	0.71417	0.882000	0.34594	0.996000	0.88848	5.817000	0.69229	1.484000	0.48361	0.655000	0.94253	GCG		0.507	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320740.1			10	13	0	0	0	1	0	10	13					T	28293810	C	T	28293810	3	4	435	1	0	0	0	0	1	0	0	0	11948	710	25	3	579	3	PITPNB	22	28293810	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	146835	28293810	23010756	8883	29808											
ZNRF3	84133	broad.mit.edu	37	chr22	29444421	29444421	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccggtttcacaggaagtgCgtggacccctggctgctgca	7	8	13	13	2	1	0	1	0	0	0	1	2	1	2	3	4	3	4	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:29444421C>T	ENST00000544604.2	+	7	1132	c.957C>T	c.(955-957)tgC>tgT	p.C319C	ZNRF3_ENST00000406323.3_Silent_p.C219C|ZNRF3_ENST00000332811.4_Silent_p.C219C|ZNRF3_ENST00000402174.1_Silent_p.C219C	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	319					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C219C(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						ACAGGAAGTGCGTGGACCCCT	0.607																																						ENST00000544604.2																			1	Substitution - coding silent(1)	p.C219C(1)	lung(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(955-957)tgC>tgT		zinc and ring finger 3							93	109	104					22																	29444421		2159	4248	6407	SO:0001819	synonymous_variant	84133					integral to membrane	zinc ion binding	g.chr22:29444421C>T	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"RING-type (C3HC4) zinc fingers"	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.957C>T	22.37:g.29444421C>T						ZNRF3_ENST00000406323.3_Silent_p.C219C|ZNRF3_ENST00000402174.1_Silent_p.C219C|ZNRF3_ENST00000332811.4_Silent_p.C219C	p.C319C	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			7	1132	+			319					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Silent	SNP	ENST00000544604.2	37	c.957C>T	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609551	0.28623	.	.	ENSG00000183579	ENST00000462485	.	.	.	5.45	-2.55	0.06288	.	.	.	.	.	T	0.67813	0.2933	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72047	-0.4408	5	0.87932	D	0	-12.3639	11.5588	0.50764	0.0:0.2507:0.0:0.7493	.	.	.	.	V	27	.	ENSP00000440667:A27V	A	+	2	0	ZNRF3	27774421	0.821000	0.29204	0.997000	0.53966	0.993000	0.82548	-0.127000	0.10547	-0.154000	0.11118	0.650000	0.86243	GCG		0.607	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		8	15	0	0	0	1	0	8	15					T	29444421	C	T	29444421	2	4	435	1	0	0	0	0	0	0	0	1	18210	776	27	1		1	ZNRF3	22	29444421	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1150611	29444421	21860145	8884	29809											
C22orf31	25770	broad.mit.edu	37	chr22	29454920	29454920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcttgggggtccctgaaGgattccacagcattggctcc	7	10	11	13	0	1	1	0	1	1	0	4	2	4	2	4	4	1	2	4	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:29454920G>A	ENST00000216071.4	-	3	734	c.683C>T	c.(682-684)cCt>cTt	p.P228L		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	228										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						GGTCCCTGAAGGATTCCACAG	0.567																																						ENST00000216071.4																			0				cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						c.(682-684)cCt>cTt		chromosome 22 open reading frame 31							79	77	78					22																	29454920		2203	4300	6503	SO:0001583	missense	25770							g.chr22:29454920G>A	AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.683C>T	22.37:g.29454920G>A	ENSP00000216071:p.Pro228Leu						p.P228L	NM_015370.1	NP_056185.1	O95567	CV031_HUMAN			3	734	-			228					A0AV97	Missense_Mutation	SNP	ENST00000216071.4	37	c.683C>T	CCDS13848.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550356	0.45383	.	.	ENSG00000100249	ENST00000216071	T	0.34859	1.34	5.65	5.65	0.86999	.	0.116270	0.39615	N	0.001320	T	0.45994	0.1370	L	0.27053	0.805	0.33220	D	0.554539	D	0.69078	0.997	D	0.65987	0.94	T	0.55685	-0.8102	10	0.72032	D	0.01	-6.5545	15.093	0.72211	0.0:0.0:1.0:0.0	.	228	O95567	CV031_HUMAN	L	228	ENSP00000216071:P228L	ENSP00000216071:P228L	P	-	2	0	C22orf31	27784920	0.768000	0.28519	0.680000	0.29994	0.030000	0.12068	3.152000	0.50677	2.941000	0.99782	0.655000	0.94253	CCT		0.567	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	NM_015370		22	43	0	0	0	1	0	22	43					A	29454920	G	A	29454920	3	1	435	1	0	0	0	0	1	0	0	0	2143	1000	35	3	193	3	C22orf31	22	29454920	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10499	29454920	21849646	8885	29810											
EMID1	129080	broad.mit.edu	37	chr22	29611568	29611568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtacaagatagtgaccGcccgtgagtggaggtgctgc	9	9	15	8	2	0	4	0	3	0	1	0	5	0	5	2	2	3	2	2	2	3	2	rs202038784		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:29611568G>A	ENST00000404820.3	+	3	395	c.268G>A	c.(268-270)Gcc>Acc	p.A90T	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000334018.6_Missense_Mutation_p.A90T|EMID1_ENST00000404755.3_Missense_Mutation_p.A90T			Q96A84	EMID1_HUMAN	EMI domain containing 1	90	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GATAGTGACCGCCCGTGAGTG	0.627																																						ENST00000334018.6																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						c.(268-270)Gcc>Acc		EMI domain containing 1							105	96	99					22																	29611568		2203	4300	6503	SO:0001583	missense	129080					collagen		g.chr22:29611568G>A	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"EMI domain containing"	18036	protein-coding gene	gene with protein product	"emilin and multimerin-domain containing protein 1", "putative emu1"	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.268G>A	22.37:g.29611568G>A	ENSP00000384452:p.Ala90Thr					EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404820.3_Missense_Mutation_p.A90T|EMID1_ENST00000404755.3_Missense_Mutation_p.A90T	p.A90T	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN			3	456	+			90			EMI.		B0QYK6|Q6ICG1|Q86SS7	Missense_Mutation	SNP	ENST00000404820.3	37	c.268G>A		.	.	.	.	.	.	.	.	.	.	G	12.33	1.904501	0.33628	.	.	ENSG00000186998	ENST00000334018;ENST00000429226;ENST00000404755;ENST00000404820;ENST00000430127	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.43	-0.714	0.11219	EMI domain (2);	0.411389	0.20796	N	0.085523	T	0.23249	0.0562	L	0.45581	1.43	0.09310	N	1	B;B;B;B	0.18863	0.031;0.008;0.007;0.025	B;B;B;B	0.15052	0.011;0.006;0.012;0.004	T	0.26950	-1.0088	10	0.02654	T	1	-9.603	3.6494	0.08198	0.3772:0.0:0.4445:0.1783	.	90;90;90;90	B0QYK4;B0QYK5;Q96A84;Q96A84-3	.;.;EMID1_HUMAN;.	T	90	ENSP00000335481:A90T;ENSP00000403816:A90T;ENSP00000385414:A90T;ENSP00000384452:A90T;ENSP00000399760:A90T	ENSP00000335481:A90T	A	+	1	0	EMID1	27941568	0.018000	0.18449	0.125000	0.21846	0.686000	0.39977	0.496000	0.22499	0.279000	0.22186	-0.448000	0.05591	GCC		0.627	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455		14	26	0	0	0	1	0	14	26					A	29611568	G	A	29611568	3	1	435	1	0	0	0	0	1	0	0	0	5091	1087	38	1	278	1	EMID1	22	29611568	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	156648	29611568	21692998	8886	29811											
EWSR1	2130	broad.mit.edu	37	chr22	29693897	29693897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagtatgcggggtggtctgCcaccccgtgagggcagaggc	7	6	17	11	2	1	2	0	1	1	1	1	2	1	2	3	5	2	2	3	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:29693897C>T	ENST00000397938.2	+	13	1694	c.1375C>T	c.(1375-1377)Cca>Tca	p.P459S	EWSR1_ENST00000332050.6_Missense_Mutation_p.P386S|EWSR1_ENST00000414183.2_Missense_Mutation_p.P464S|EWSR1_ENST00000406548.1_Missense_Mutation_p.P458S|EWSR1_ENST00000332035.6_Missense_Mutation_p.P403S|EWSR1_ENST00000331029.7_Missense_Mutation_p.P421S	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	459	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGGTGGTCTGCCACCCCGTGA	0.493			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"																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"L, M"	"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"	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1375-1377)Cca>Tca		EWS RNA-binding protein 1							76	78	78					22																	29693897		2203	4300	6503	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29693897C>T		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1375C>T	22.37:g.29693897C>T	ENSP00000381031:p.Pro459Ser					EWSR1_ENST00000331029.7_Missense_Mutation_p.P421S|EWSR1_ENST00000414183.2_Missense_Mutation_p.P464S|EWSR1_ENST00000332035.6_Missense_Mutation_p.P403S|EWSR1_ENST00000406548.1_Missense_Mutation_p.P458S|EWSR1_ENST00000332050.6_Missense_Mutation_p.P386S	p.P459S	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			13	1694	+			459			Arg/Gly/Pro-rich.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.1375C>T	CCDS13851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.720924|4.720924	0.89205|0.89205	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000360091|ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035	.|T;T;T;T;T;T	.|0.73575	.|1.34;-0.76;-0.76;-0.76;-0.76;-0.76	5.79|5.79	5.79|5.79	0.91817|0.91817	.|Nucleotide-binding, alpha-beta plait (1);	.|0.065066	.|0.64402	.|U	.|0.000007	T|T	0.71298|0.71298	0.3323|0.3323	L|L	0.50333|0.50333	1.59|1.59	0.54753|0.54753	D|D	0.99998|0.99998	.|P;P;P;P;P	.|0.52316	.|0.952;0.952;0.952;0.952;0.952	.|B;B;B;B;B	.|0.42882	.|0.401;0.401;0.312;0.312;0.312	T|T	0.67745|0.67745	-0.5591|-0.5591	5|10	.|0.15952	.|T	.|0.53	.|.	20.0263|20.0263	0.97523|0.97523	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|403;458;403;464;459	.|Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844	.|.;.;.;.;EWS_HUMAN	V|S	114|386;459;458;421;464;403	.|ENSP00000330896:P386S;ENSP00000381031:P459S;ENSP00000385726:P458S;ENSP00000330516:P421S;ENSP00000400142:P464S;ENSP00000331699:P403S	.|ENSP00000330516:P421S	A|P	+|+	2|1	0|0	EWSR1|EWSR1	28023897|28023897	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.954000|0.954000	0.61252|0.61252	6.778000|6.778000	0.75043|0.75043	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.493	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		22	39	0	0	0	1	0	22	39					T	29693897	C	T	29693897	3	4	435	1	0	0	0	0	1	0	0	0	5296	739	26	3	1542	3	EWSR1	22	29693897	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	82329	29693897	21610669	8887	29812											
GAS2L1	10633	broad.mit.edu	37	chr22	29708154	29708154	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcttcgtccctcagcGtcctgggtggcaaatgtggc	4	11	11	15	2	2	0	1	0	1	0	6	0	5	0	4	3	1	1	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:29708154G>A	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000406549.3_Missense_Mutation_p.V345I|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000407854.1_3'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						GTCCCTCAGCGTCCTGGGTGG	0.662																																						ENST00000406549.3																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1033-1035)Gtc>Atc		growth arrest-specific 2 like 1							67	81	77					22																	29708154		2012	4149	6161	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29708154G>A	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29708154G>A						GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000360113.2_3'UTR	p.V345I			Q99501	GA2L1_HUMAN			6	1183	+			362					Q49AU5|Q6PI03	Missense_Mutation	SNP	ENST00000216101.6	37	c.1033G>A	CCDS13854.1	.	.	.	.	.	.	.	.	.	.	G	3.086	-0.187851	0.06299	.	.	ENSG00000185340	ENST00000333679;ENST00000406549	T	0.42131	0.98	3.7	-1.52	0.08637	.	0.458197	0.16575	U	0.208447	T	0.23014	0.0556	.	.	.	0.47862	D	0.999535	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.05037	-1.0910	9	0.27082	T	0.32	-7.3373	4.563	0.12170	0.196:0.0:0.2922:0.5118	.	345;572;572	B5MCR7;A0A5E8;Q99501	.;.;GA2L1_HUMAN	I	571;345	ENSP00000383995:V345I	ENSP00000332834:V571I	V	+	1	0	GAS2L1	28038154	0.406000	0.25344	0.714000	0.30535	0.968000	0.65278	0.789000	0.26886	-0.033000	0.13736	0.491000	0.48974	GTC		0.662	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			58	74	0	0	0	1	0	58	74					A	29708154	G	A	29708154	1	1	435	0	1	0	0	0	0	0	0	0	6246	1132	40	1		1	GAS2L1	22	29708154	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14257	29708154	21596412	8888	29813											
AP1B1	162	broad.mit.edu	37	chr22	29735056	29735056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcactcaggccactgcCgatgggtgctccaagattgg	8	8	14	11	1	2	1	2	0	0	1	3	3	3	1	3	4	2	1	3	4	1	1	rs145640648		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:29735056C>T	ENST00000405198.1	-	15	2117	c.2086G>A	c.(2086-2088)Ggc>Agc	p.G696S	AP1B1_ENST00000356015.2_Missense_Mutation_p.G689S|AP1B1_ENST00000432560.2_Missense_Mutation_p.G689S|AP1B1_ENST00000317368.7_Missense_Mutation_p.G689S|AP1B1_ENST00000402502.1_Missense_Mutation_p.G689S|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000357586.2_Missense_Mutation_p.G696S|AP1B1_ENST00000415447.1_Missense_Mutation_p.G689S			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	696	Pro-rich (stalk region).				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGGCCACTGCCGATGGGTGCT	0.567													C|||	1	0.000199681	0	0	5008	,	,		19266	0		0.001	False		,,,				2504	0					ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(2086-2088)Ggc>Agc		adaptor-related protein complex 1, beta 1 subunit		C	SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	130	125	127		2086,2065,2065	3.8	0.9	22	dbSNP_134	127	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense,missense	AP1B1	NM_001127.3,NM_001166019.1,NM_145730.2	56,56,56	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign,benign,benign	696/950,689/920,689/940	29735056	5,13001	2203	4300	6503	SO:0001583	missense	162				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	g.chr22:29735056C>T	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2086G>A	22.37:g.29735056C>T	ENSP00000384194:p.Gly696Ser					AP1B1_ENST00000432560.2_Missense_Mutation_p.G689S|AP1B1_ENST00000415447.1_Missense_Mutation_p.G689S|AP1B1_ENST00000356015.2_Missense_Mutation_p.G689S|AP1B1_ENST00000402502.1_Missense_Mutation_p.G689S|AP1B1_ENST00000405198.1_Missense_Mutation_p.G696S|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000317368.7_Missense_Mutation_p.G689S	p.G696S	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			16	2272	-			696			Pro-rich (stalk region).		C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.2086G>A	CCDS13855.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	7.156	0.584658	0.13749	0.0	5.81E-4	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.24538	1.92;1.85;1.85;1.92;1.92;1.85;1.85	5.84	3.76	0.43208	.	0.129990	0.64402	N	0.000001	T	0.11495	0.0280	N	0.08118	0	0.58432	D	0.999991	B;B;B;B;B	0.12013	0.0;0.001;0.0;0.0;0.005	B;B;B;B;B	0.13407	0.0;0.002;0.0;0.0;0.009	T	0.09552	-1.0669	10	0.07325	T	0.83	-27.9536	11.5386	0.50653	0.0:0.8528:0.0:0.1472	.	249;689;689;696;689	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;.;AP1B1_HUMAN;.	S	696;689;689;696;689;689;689	ENSP00000350199:G696S;ENSP00000348297:G689S;ENSP00000400065:G689S;ENSP00000384194:G696S;ENSP00000319361:G689S;ENSP00000386071:G689S;ENSP00000387612:G689S	ENSP00000319361:G689S	G	-	1	0	AP1B1	28065056	0.879000	0.30193	0.929000	0.37066	0.892000	0.51952	1.653000	0.37323	0.795000	0.33922	-0.140000	0.14226	GGC		0.567	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		44	48	0	0	0	1	0	44	48					T	29735056	C	T	29735056	3	4	435	1	0	0	0	0	1	0	0	0	731	652	23	2	795	2	AP1B1	22	29735056	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26902	29735056	21569510	8889	29814											
AP1B1	162	broad.mit.edu	37	chr22	29737722	29737722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgccagtagatgtagccacGgtcccgcaggtctgggttat	7	9	14	11	3	1	1	0	0	1	1	2	1	2	1	3	3	1	4	3	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:29737722G>A	ENST00000405198.1	-	12	1595	c.1564C>T	c.(1564-1566)Cgt>Tgt	p.R522C	AP1B1_ENST00000356015.2_Missense_Mutation_p.R522C|AP1B1_ENST00000432560.2_Missense_Mutation_p.R522C|AP1B1_ENST00000317368.7_Missense_Mutation_p.R522C|AP1B1_ENST00000402502.1_Missense_Mutation_p.R522C|AP1B1_ENST00000472057.1_5'Flank|AP1B1_ENST00000357586.2_Missense_Mutation_p.R522C|AP1B1_ENST00000415447.1_Missense_Mutation_p.R522C			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	522					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ATGTAGCCACGGTCCCGCAGG	0.592																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1564-1566)Cgt>Tgt		adaptor-related protein complex 1, beta 1 subunit							56	50	52					22																	29737722		2203	4300	6503	SO:0001583	missense	162				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	g.chr22:29737722G>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1564C>T	22.37:g.29737722G>A	ENSP00000384194:p.Arg522Cys					AP1B1_ENST00000432560.2_Missense_Mutation_p.R522C|AP1B1_ENST00000415447.1_Missense_Mutation_p.R522C|AP1B1_ENST00000356015.2_Missense_Mutation_p.R522C|AP1B1_ENST00000402502.1_Missense_Mutation_p.R522C|AP1B1_ENST00000405198.1_Missense_Mutation_p.R522C|AP1B1_ENST00000317368.7_Missense_Mutation_p.R522C	p.R522C	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			13	1750	-			522					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.1564C>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879172	0.91740	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.66	5.66	0.87406	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82962	0.5151	H	0.97103	3.94	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;0.998;0.995;0.983	D	0.88386	0.3005	10	0.87932	D	0	-10.4062	19.3511	0.94387	0.0:0.0:1.0:0.0	.	75;522;522;522;522	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;.;AP1B1_HUMAN;.	C	522	ENSP00000350199:R522C;ENSP00000348297:R522C;ENSP00000400065:R522C;ENSP00000384194:R522C;ENSP00000319361:R522C;ENSP00000386071:R522C;ENSP00000387612:R522C;ENSP00000400022:R522C	ENSP00000319361:R522C	R	-	1	0	AP1B1	28067722	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	5.407000	0.66363	2.665000	0.90641	0.655000	0.94253	CGT		0.592	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		5	11	0	0	0	1	0	5	11					A	29737722	G	A	29737722	3	1	435	1	0	0	0	0	1	0	0	0	731	1116	39	2	1329	2	AP1B1	22	29737722	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2666	29737722	21566844	8890	29815											
RFPL1	5988	broad.mit.edu	37	chr22	29837923	29837923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatatgggcatgcagaacGtttccttttttgatgctgaa	9	15	11	6	1	0	3	0	2	0	1	1	4	1	4	1	2	3	4	1	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:29837923G>A	ENST00000354373.2	+	2	975	c.766G>A	c.(766-768)Gtt>Att	p.V256I	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	256	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CATGCAGAACGTTTCCTTTTT	0.517																																						ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(766-768)Gtt>Att		ret finger protein-like 1							156	120	132					22																	29837923		2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29837923G>A	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"RING-type (C3HC4) zinc fingers"	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.766G>A	22.37:g.29837923G>A	ENSP00000346342:p.Val256Ile					RFPL1S_ENST00000461286.2_RNA	p.V256I	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			2	975	+			256			B30.2/SPRY.		Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.766G>A	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	G	5.382	0.255723	0.10185	.	.	ENSG00000128250	ENST00000354373	T	0.64438	-0.1	1.42	0.00106	0.14045	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.33000	0.0848	N	0.10645	0.015	0.09310	N	0.999997	B	0.23937	0.094	B	0.25759	0.063	T	0.24225	-1.0166	9	0.08599	T	0.76	.	4.7558	0.13082	0.4327:0.0:0.5673:0.0	.	256	O75677	RFPL1_HUMAN	I	256	ENSP00000346342:V256I	ENSP00000346342:V256I	V	+	1	0	RFPL1	28167923	0.026000	0.19158	0.001000	0.08648	0.130000	0.20726	0.100000	0.15231	-0.217000	0.10033	0.195000	0.17529	GTT		0.517	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		17	46	0	0	0	1	0	17	46					A	29837923	G	A	29837923	3	1	435	1	0	0	0	0	1	0	0	0	13253	1145	40	1	772	1	RFPL1	22	29837923	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	100201	29837923	21466643	8891	29816											
NF2	4771	broad.mit.edu	37	chr22	30035131	30035131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcacctttcacttcttggCcaaattttatcctgagaatg	10	15	6	10	0	3	1	2	1	1	1	4	2	4	1	3	1	0	0	3	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:30035131C>T	ENST00000338641.4	+	3	734	c.293C>T	c.(292-294)gCc>gTc	p.A98V	NF2_ENST00000403999.3_Missense_Mutation_p.A98V|NF2_ENST00000353887.4_Intron|NF2_ENST00000403435.1_Missense_Mutation_p.A98V|NF2_ENST00000413209.2_Missense_Mutation_p.A98V|NF2_ENST00000397789.3_Missense_Mutation_p.A98V|NF2_ENST00000334961.7_Intron|NF2_ENST00000361452.4_Intron|NF2_ENST00000361166.4_Missense_Mutation_p.A98V|NF2_ENST00000361676.4_Missense_Mutation_p.A56V|NF2_ENST00000347330.5_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	98	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.V86_Q111>E(1)|p.L97fs*22(1)|p.H84_F100del(1)|p.L97fs*17(1)|p.H95fs*3(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CACTTCTTGGCCAAATTTTAT	0.428			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"D, Mis, N, F, S, O"	neurofibromatosis type 2 gene			O		"meningioma, acoustic neuroma"	"meningioma, acoustic neuroma, renal "		8	Unknown(3)|Deletion - Frameshift(3)|Complex - deletion inframe(1)|Deletion - In frame(1)	p.?(3)|p.V86_Q111>E(1)|p.L97fs*22(1)|p.H84_F100del(1)|p.L97fs*17(1)|p.H95fs*3(1)	soft_tissue(4)|meninges(1)|stomach(1)|large_intestine(1)|lung(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						c.(292-294)gCc>gTc		neurofibromin 2 (merlin)							134	118	123					22																	30035131		2203	4300	6503	SO:0001583	missense	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30035131C>T	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.293C>T	22.37:g.30035131C>T	ENSP00000344666:p.Ala98Val					NF2_ENST00000397789.3_Missense_Mutation_p.A98V|NF2_ENST00000403435.1_Missense_Mutation_p.A98V|NF2_ENST00000361166.4_Missense_Mutation_p.A98V|NF2_ENST00000413209.2_Missense_Mutation_p.A98V|NF2_ENST00000361452.4_Intron|NF2_ENST00000347330.5_Intron|NF2_ENST00000403999.3_Missense_Mutation_p.A98V|NF2_ENST00000353887.4_Intron|NF2_ENST00000361676.4_Missense_Mutation_p.A56V|NF2_ENST00000334961.7_Intron	p.A98V	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			3	734	+			98			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	c.293C>T	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072261	0.76415	.	.	ENSG00000186575	ENST00000413209;ENST00000338641;ENST00000403435;ENST00000397822;ENST00000403999;ENST00000397789;ENST00000361676;ENST00000361166	T;T;T;T;T;T;T	0.78816	-0.34;-0.34;-0.34;-0.34;-0.34;-1.21;-0.34	6.17	4.05	0.47172	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	N	0.17723	0.515	0.80722	D	1	D;D;D;D;D	0.76494	0.978;0.993;0.998;0.999;0.999	P;P;P;P;P	0.56700	0.591;0.804;0.802;0.588;0.754	T	0.72371	-0.4314	9	.	.	.	.	12.6895	0.56966	0.0:0.8207:0.1161:0.0631	.	98;98;98;56;98	P35240-9;P35240;P35240-2;P35240-6;P35240-3	.;MERL_HUMAN;.;.;.	V	98;98;98;98;98;98;56;98	ENSP00000409921:A98V;ENSP00000344666:A98V;ENSP00000384029:A98V;ENSP00000384797:A98V;ENSP00000380891:A98V;ENSP00000355183:A56V;ENSP00000354529:A98V	.	A	+	2	0	NF2	28365131	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.726000	0.84824	1.608000	0.50180	-0.176000	0.13171	GCC		0.428	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		12	67	0	0	0	1	0	12	67					T	30035131	C	T	30035131	3	4	435	1	0	0	0	0	1	0	0	0	10357	739	26	3	303	3	NF2	22	30035131	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	197208	30035131	21269435	8892	29817											
ASCC2	84164	broad.mit.edu	37	chr22	30218380	30218380	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagagcacgcagaggtccAggatctttggaatgtcaaag	14	7	12	8	1	2	2	1	0	1	2	3	4	3	4	1	3	1	2	1	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:30218380A>G	ENST00000397771.2	-	6	662	c.485T>C	c.(484-486)cTg>cCg	p.L162P	ASCC2_ENST00000542393.1_Missense_Mutation_p.L86P|ASCC2_ENST00000307790.3_Missense_Mutation_p.L162P			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GCAGAGGTCCAGGATCTTTGG	0.478																																						ENST00000397771.2																			0				endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(484-486)cTg>cCg		activating signal cointegrator 1 complex subunit 2							137	129	132					22																	30218380		2203	4300	6503	SO:0001583	missense	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30218380A>G	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"ASC 1 complex subunit P100"	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.485T>C	22.37:g.30218380A>G	ENSP00000380877:p.Leu162Pro					ASCC2_ENST00000542393.1_Missense_Mutation_p.L86P|ASCC2_ENST00000307790.3_Missense_Mutation_p.L162P	p.L162P			Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		6	662	-			162					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	c.485T>C	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535128	0.85812	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393;ENST00000431535;ENST00000412689	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	T	0.68714	0.3031	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.993;0.994	T	0.72340	-0.4323	10	0.72032	D	0.01	-13.4017	15.0661	0.71996	1.0:0.0:0.0:0.0	.	86;162	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	P	162;162;86;162;162	ENSP00000305502:L162P;ENSP00000380877:L162P;ENSP00000437570:L86P;ENSP00000412382:L162P;ENSP00000417032:L162P	ENSP00000305502:L162P	L	-	2	0	ASCC2	28548380	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.757000	0.91657	2.234000	0.73211	0.533000	0.62120	CTG		0.478	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		38	50	0	0	0	1	0	38	50					G	30218380	A	G	30218380	3	3	435	1	0	0	0	0	1	0	0	0	1032	188	7	4	1852	4	ASCC2	22	30218380	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	183249	30218380	21086186	8893	29818											
MTMR3	8897	broad.mit.edu	37	chr22	30418109	30418109	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagccagctgggagcaggTggataaacaggacacagagg	14	4	16	7	0	0	2	0	1	0	1	0	5	0	5	1	5	4	2	1	5	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:30418109T>C	ENST00000401950.2	+	18	3659	c.3317T>C	c.(3316-3318)gTg>gCg	p.V1106A	MTMR3_ENST00000351488.3_Intron|MTMR3_ENST00000323630.5_Missense_Mutation_p.V970A|MTMR3_ENST00000406629.1_Intron|CTA-85E5.10_ENST00000429350.1_RNA|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000333027.3_Intron	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1106					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			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)			TGGGAGCAGGTGGATAAACAG	0.517																																						ENST00000401950.2																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(3316-3318)gTg>gCg		myotubularin related protein 3							73	68	69					22																	30418109		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30418109T>C	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.3317T>C	22.37:g.30418109T>C	ENSP00000384651:p.Val1106Ala					MTMR3_ENST00000323630.5_Missense_Mutation_p.V970A|MTMR3_ENST00000351488.3_Intron|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Intron|MTMR3_ENST00000333027.3_Intron	p.V1106A	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		18	3659	+			1106					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.3317T>C	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.173539	0.78452	.	.	ENSG00000100330	ENST00000401950;ENST00000323630	D;D	0.94232	-3.18;-3.38	5.32	5.32	0.75619	.	0.063724	0.64402	D	0.000008	D	0.94518	0.8235	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.95122	0.8247	10	0.72032	D	0.01	.	14.6182	0.68565	0.0:0.0:0.0:1.0	.	1106	Q13615	MTMR3_HUMAN	A	1106;970	ENSP00000384651:V1106A;ENSP00000318070:V970A	ENSP00000318070:V970A	V	+	2	0	MTMR3	28748109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.517000	0.81783	2.233000	0.73108	0.533000	0.62120	GTG		0.517	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		22	18	0	0	0	1	0	22	18					C	30418109	T	C	30418109	3	2	435	1	0	0	0	0	1	0	0	0	9945	1696	59	4	3379	4	MTMR3	22	30418109	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	199729	30418109	20886457	8894	29819											
TBC1D10A	83874	broad.mit.edu	37	chr22	30691820	30691820	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttggggtccccaggggAcatgtccagctcctagaagc	8	7	12	14	0	0	1	0	0	0	1	3	2	3	2	5	4	2	1	5	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:30691820A>G	ENST00000215790.7	-	4	594	c.430T>C	c.(430-432)Tcc>Ccc	p.S144P	RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.S18P|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.S56P|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.S151P	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	144	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TCCCCAGGGGACATGTCCAGC	0.627																																						ENST00000215790.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(430-432)Tcc>Ccc		TBC1 domain family, member 10A							47	40	42					22																	30691820		2203	4300	6503	SO:0001583	missense	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30691820A>G	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"EBP50-PDZ interactor of 64 kD"	610020	"TBC1 domain family, member 10"	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.430T>C	22.37:g.30691820A>G	ENSP00000215790:p.Ser144Pro					RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.S18P|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.S56P|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.S151P	p.S144P	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			4	594	-			144			Rab-GAP TBC.		B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	c.430T>C	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.237210	0.39498	.	.	ENSG00000248751;ENSG00000099992;ENSG00000099992;ENSG00000099992;ENSG00000099992	ENST00000434291;ENST00000215790;ENST00000403477;ENST00000403362;ENST00000393906	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	4.63	3.58	0.41010	Rab-GAP/TBC domain (4);	0.402385	0.28156	N	0.016384	T	0.15955	0.0384	L	0.56124	1.755	0.28601	N	0.909176	B;B;B;B	0.23540	0.037;0.036;0.037;0.087	B;B;B;B	0.34346	0.116;0.18;0.116;0.167	T	0.19582	-1.0301	10	0.34782	T	0.22	.	1.8226	0.03114	0.5661:0.1759:0.0896:0.1684	.	144;151;144;144	Q20WK7;B3KXT8;Q9BXI6;A7E244	.;.;TB10A_HUMAN;.	P	18;144;151;56;56	ENSP00000401535:S18P;ENSP00000215790:S144P;ENSP00000384996:S151P;ENSP00000385050:S56P;ENSP00000377484:S56P	ENSP00000331267:S5P	S	-	1	0	TBC1D10A;RP1-130H16.18	29021820	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.692000	0.47018	0.888000	0.36160	0.533000	0.62120	TCC		0.627	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		5	6	0	0	0	1	0	5	6					G	30691820	A	G	30691820	3	3	435	1	0	0	0	0	1	0	0	0	15595	275	10	4	1120	4	TBC1D10A	22	30691820	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	273711	30691820	20612746	8895	29820											
SEC14L4	284904	broad.mit.edu	37	chr22	30888485	30888485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatcacaatcttcctgcGtgtctcctcactcatgaacg	10	11	6	14	2	5	2	3	1	2	1	7	2	6	2	2	0	2	0	2	0	3	1	rs199853485		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:30888485G>A	ENST00000255858.7	-	8	723	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_Missense_Mutation_p.R199C|RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000381982.3_Missense_Mutation_p.R214C|SEC14L4_ENST00000392772.2_Missense_Mutation_p.R160C	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	214	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	ATCTTCCTGCGTGTCTCCTCA	0.527													G|||	1	0.000199681	0	0	5008	,	,		21162	0		0.001	False		,,,				2504	0					ENST00000392772.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21						c.(478-480)Cgc>Tgc		SEC14-like 4 (S. cerevisiae)	Vitamin E(DB00163)						142	96	112					22																	30888485		2203	4300	6503	SO:0001583	missense	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30888485G>A	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.640C>T	22.37:g.30888485G>A	ENSP00000255858:p.Arg214Cys					RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_Missense_Mutation_p.R199C|SEC14L4_ENST00000381982.3_Missense_Mutation_p.R214C|SEC14L4_ENST00000255858.7_Missense_Mutation_p.R214C	p.R160C			Q9UDX3	S14L4_HUMAN			8	755	-			214			CRAL-TRIO.		A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	37	c.478C>T	CCDS13878.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	19.04	3.750554	0.69533	.	.	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.09	2.95	0.34219	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.126220	0.56097	D	0.000030	D	0.89935	0.6859	M	0.93550	3.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.984;0.954;0.985	D	0.91460	0.5188	10	0.72032	D	0.01	-7.7704	13.3949	0.60846	0.0:0.0:0.7132:0.2868	.	160;199;214	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	C	214;199;160;214	ENSP00000255858:R214C;ENSP00000440848:R199C;ENSP00000376525:R160C;ENSP00000371412:R214C	ENSP00000255858:R214C	R	-	1	0	SEC14L4	29218485	0.129000	0.22400	0.486000	0.27416	0.979000	0.70002	2.058000	0.41374	0.635000	0.30488	0.591000	0.81541	CGC		0.527	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		18	19	0	0	0	1	0	18	19					A	30888485	G	A	30888485	3	1	435	1	0	0	0	0	1	0	0	0	13984	1145	40	1	606	1	SEC14L4	22	30888485	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	196665	30888485	20416081	8896	29821											
SLC35E4	339665	broad.mit.edu	37	chr22	31033021	31033021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtggcttcctgctcgcagCcacctgcctccgcggactca	4	9	10	18	3	1	0	1	0	0	0	4	1	3	1	5	2	3	3	5	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31033021C>T	ENST00000343605.4	+	1	1383	c.584C>T	c.(583-585)gCc>gTc	p.A195V	SLC35E4_ENST00000300385.8_Missense_Mutation_p.A195V|SLC35E4_ENST00000406566.1_Missense_Mutation_p.A195V	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	195	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CTGCTCGCAGCCACCTGCCTC	0.667																																						ENST00000343605.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						c.(583-585)gCc>gTc		solute carrier family 35, member E4							21	24	23					22																	31033021		2194	4268	6462	SO:0001583	missense	339665					integral to membrane		g.chr22:31033021C>T		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"Solute carriers"	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.584C>T	22.37:g.31033021C>T	ENSP00000339626:p.Ala195Val					SLC35E4_ENST00000406566.1_Missense_Mutation_p.A195V|SLC35E4_ENST00000300385.8_Missense_Mutation_p.A195V	p.A195V	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN			1	1383	+			195			Leu-rich.		Q567P0	Missense_Mutation	SNP	ENST00000343605.4	37	c.584C>T	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545578	0.65198	.	.	ENSG00000100036	ENST00000343605;ENST00000300385;ENST00000406566;ENST00000451479	T	0.73152	-0.72	5.16	5.16	0.70880	Domain of unknown function DUF250 (1);	0.053403	0.64402	D	0.000001	D	0.84275	0.5436	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.74023	0.982;0.966	D	0.86340	0.1704	10	0.72032	D	0.01	-15.7455	17.4472	0.87581	0.0:1.0:0.0:0.0	.	195;195	Q6ICL7-2;Q6ICL7	.;S35E4_HUMAN	V	195;195;195;171	ENSP00000339626:A195V	ENSP00000300385:A195V	A	+	2	0	SLC35E4	29363021	1.000000	0.71417	0.994000	0.49952	0.327000	0.28475	7.145000	0.77365	2.406000	0.81754	0.549000	0.68633	GCC		0.667	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		11	26	0	0	0	1	0	11	26					T	31033021	C	T	31033021	3	4	435	1	0	0	0	0	1	0	0	0	14587	739	26	3	586	3	SLC35E4	22	31033021	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	144536	31033021	20271545	8897	29822											
OSBP2	23762	broad.mit.edu	37	chr22	31266435	31266435	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgactctggggacgacgaCgaggctaccaccccagccga	10	4	13	14	4	1	1	0	1	1	0	1	7	1	2	4	3	2	1	4	3	1	1	rs191090393	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31266435C>T	ENST00000332585.6	+	3	977	c.873C>T	c.(871-873)gaC>gaT	p.D291D	OSBP2_ENST00000437268.2_Silent_p.D33D|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000403222.3_Silent_p.D126D|OSBP2_ENST00000446658.2_Silent_p.D291D|OSBP2_ENST00000407373.1_Silent_p.D118D|OSBP2_ENST00000382310.3_Silent_p.D291D	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	291					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GGGACGACGACGAGGCTACCA	0.557													C|||	2	0.000399361	0	0.0014	5008	,	,		19176	0.001		0	False		,,,				2504	0					ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(871-873)gaC>gaT		oxysterol binding protein 2							61	65	64					22																	31266435		2111	4228	6339	SO:0001819	synonymous_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31266435C>T		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.873C>T	22.37:g.31266435C>T						OSBP2_ENST00000382310.3_Silent_p.D291D|OSBP2_ENST00000407373.1_Silent_p.D118D|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000403222.3_Silent_p.D126D|OSBP2_ENST00000446658.2_Silent_p.D291D|OSBP2_ENST00000437268.2_Silent_p.D33D	p.D291D	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			3	977	+			291					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	c.873C>T	CCDS43002.1																																																																																				0.557	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		7	18	0	0	0	1	0	7	18					T	31266435	C	T	31266435	2	4	435	1	0	0	0	0	0	0	0	1	11274	535	19	1		1	OSBP2	22	31266435	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	233414	31266435	20038131	8898	29823											
OSBP2	23762	broad.mit.edu	37	chr22	31289530	31289530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgttcacaacatcatcGtgggcaagctctggatcgac	11	9	9	12	2	3	0	2	0	1	0	5	2	3	1	0	2	3	3	0	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31289530G>A	ENST00000332585.6	+	10	2175	c.2071G>A	c.(2071-2073)Gtg>Atg	p.V691M	OSBP2_ENST00000535268.1_Missense_Mutation_p.V235M|OSBP2_ENST00000437268.2_Missense_Mutation_p.V433M|OSBP2_ENST00000401475.1_Missense_Mutation_p.V324M|OSBP2_ENST00000403222.3_Missense_Mutation_p.V525M|OSBP2_ENST00000446658.2_Missense_Mutation_p.V690M|OSBP2_ENST00000407373.1_Missense_Mutation_p.V518M|OSBP2_ENST00000496575.1_3'UTR|OSBP2_ENST00000382310.3_Missense_Mutation_p.V642M	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	691					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CAACATCATCGTGGGCAAGCT	0.632																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(2071-2073)Gtg>Atg		oxysterol binding protein 2							65	69	68					22																	31289530		2072	4213	6285	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31289530G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.2071G>A	22.37:g.31289530G>A	ENSP00000332576:p.Val691Met					OSBP2_ENST00000382310.3_Missense_Mutation_p.V642M|OSBP2_ENST00000496575.1_3'UTR|OSBP2_ENST00000407373.1_Missense_Mutation_p.V518M|OSBP2_ENST00000535268.1_Missense_Mutation_p.V235M|OSBP2_ENST00000401475.1_Missense_Mutation_p.V324M|OSBP2_ENST00000403222.3_Missense_Mutation_p.V525M|OSBP2_ENST00000446658.2_Missense_Mutation_p.V690M|OSBP2_ENST00000437268.2_Missense_Mutation_p.V433M	p.V691M	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			10	2175	+			691					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.2071G>A	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.170324|5.170324	0.94768|0.94768	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000433183|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000401475;ENST00000437268;ENST00000535268;ENST00000452656	.|T;T;T;T;T;T;T;T;T	.|0.32515	.|1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57169|0.57169	0.2035|0.2035	M|M	0.70787|0.70787	2.145|2.145	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;0.998;1.0;1.0;1.0;1.0;1.0	.|D;P;D;D;D;D;D	.|0.97110	.|0.996;0.906;0.999;0.998;0.999;1.0;1.0	T|T	0.59413|0.59413	-0.7459|-0.7459	5|10	.|0.72032	.|D	.|0.01	-40.1633|-40.1633	18.5207|18.5207	0.90951|0.90951	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|433;642;525;433;518;690;691	.|F5H2A3;B4DFA8;B4DKE4;B4DK24;Q6ZN50;Q0VF99;Q969R2	.|.;.;.;.;.;.;OSBP2_HUMAN	H|M	28|525;518;691;642;690;324;433;235;322	.|ENSP00000384213:V525M;ENSP00000385237:V518M;ENSP00000332576:V691M;ENSP00000371747:V642M;ENSP00000392080:V690M;ENSP00000385254:V324M;ENSP00000389200:V433M;ENSP00000438713:V235M;ENSP00000409838:V322M	.|ENSP00000332576:V691M	R|V	+|+	2|1	0|0	OSBP2|OSBP2	29619530|29619530	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.507000|6.507000	0.73717|0.73717	2.698000|2.698000	0.92095|0.92095	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.632	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		16	21	0	0	0	1	0	16	21					A	31289530	G	A	31289530	3	1	435	1	0	0	0	0	1	0	0	0	11274	1145	40	1	2109	1	OSBP2	22	31289530	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23095	31289530	20015036	8899	29824											
OSBP2	23762	broad.mit.edu	37	chr22	31302310	31302310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaagactggcatatgtGccccaacatcttctgagcgc	11	8	10	12	1	2	2	0	1	2	1	2	3	2	2	2	1	4	2	2	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31302310G>A	ENST00000332585.6	+	14	2839	c.2735G>A	c.(2734-2736)tGc>tAc	p.C912Y	OSBP2_ENST00000535268.1_Missense_Mutation_p.C456Y|OSBP2_ENST00000437268.2_Missense_Mutation_p.C655Y|OSBP2_ENST00000401475.1_Missense_Mutation_p.C545Y|OSBP2_ENST00000403222.3_Missense_Mutation_p.C746Y|OSBP2_ENST00000446658.2_Missense_Mutation_p.C911Y|OSBP2_ENST00000407373.1_Missense_Mutation_p.C739Y|OSBP2_ENST00000382310.3_3'UTR	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	912					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TGGCATATGTGCCCCAACATC	0.547																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(2734-2736)tGc>tAc		oxysterol binding protein 2							81	96	91					22																	31302310		2132	4240	6372	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31302310G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.2735G>A	22.37:g.31302310G>A	ENSP00000332576:p.Cys912Tyr					OSBP2_ENST00000382310.3_3'UTR|OSBP2_ENST00000407373.1_Missense_Mutation_p.C739Y|OSBP2_ENST00000535268.1_Missense_Mutation_p.C456Y|OSBP2_ENST00000401475.1_Missense_Mutation_p.C545Y|OSBP2_ENST00000403222.3_Missense_Mutation_p.C746Y|OSBP2_ENST00000446658.2_Missense_Mutation_p.C911Y|OSBP2_ENST00000437268.2_Missense_Mutation_p.C655Y	p.C912Y	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			14	2839	+			912					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.2735G>A	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.989031|3.989031	0.74589|0.74589	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000431368|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000446658;ENST00000401475;ENST00000437268;ENST00000535268	.|T;T;T;T;T;T;T	.|0.29655	.|1.56;1.56;1.56;1.56;1.56;1.56;1.56	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63861|0.63861	0.2547|0.2547	M|M	0.89601|0.89601	3.045|3.045	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.79108	.|0.992;0.982;0.992;0.99;0.99	T|T	0.73186|0.73186	-0.4062|-0.4062	5|10	.|0.87932	.|D	.|0	-18.1843|-18.1843	17.5484|17.5484	0.87869|0.87869	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|655;746;739;911;912	.|F5H2A3;B4DKE4;Q6ZN50;Q0VF99;Q969R2	.|.;.;.;.;OSBP2_HUMAN	T|Y	584|746;739;912;911;545;655;456	.|ENSP00000384213:C746Y;ENSP00000385237:C739Y;ENSP00000332576:C912Y;ENSP00000392080:C911Y;ENSP00000385254:C545Y;ENSP00000389200:C655Y;ENSP00000438713:C456Y	.|ENSP00000332576:C912Y	A|C	+|+	1|2	0|0	OSBP2|OSBP2	29632310|29632310	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.451000|7.451000	0.80668|0.80668	2.467000|2.467000	0.83353|0.83353	0.555000|0.555000	0.69702|0.69702	GCC|TGC		0.547	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		21	34	0	0	0	1	0	21	34					A	31302310	G	A	31302310	3	1	435	1	0	0	0	0	1	0	0	0	11274	1319	46	3	2789	3	OSBP2	22	31302310	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12780	31302310	20002256	8900	29825											
SELM	6525	broad.mit.edu	37	chr22	31501210	31501210	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacctctagttcctcgtagCggcggcccagcagcacgagc	7	7	11	16	4	2	0	1	0	1	0	4	1	3	0	3	2	4	4	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31501210C>T	ENST00000347557.2	+	0	3130				SELM_ENST00000400299.2_Missense_Mutation_p.R88H|SELM_ENST00000465536.1_5'UTR|SELM_ENST00000402395.1_Missense_Mutation_p.R88H	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin						muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TTCCTCGTAGCGGCGGCCCAG	0.692																																						ENST00000402395.1																			0											c.(262-264)cGc>cAc									15	18	17					22																	31501210		1906	4087	5993	SO:0001628	intergenic_variant	0							g.chr22:31501210C>T	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203		22.37:g.31501210C>T						RP3-412A9.11_ENST00000400299.2_Missense_Mutation_p.R88H|RP3-412A9.11_ENST00000465536.1_5'UTR	p.R88H							6	680	-								O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.263G>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	C	9.722	1.159830	0.21454	.	.	ENSG00000198832	ENST00000402395;ENST00000400299	.	.	.	4.64	-1.27	0.09347	Thioredoxin-like fold (1);	0.546209	0.20853	N	0.084487	T	0.24928	0.0605	L	0.29908	0.895	0.09310	N	0.999994	B	0.11235	0.004	B	0.10450	0.005	T	0.26121	-1.0112	9	0.14656	T	0.56	-27.2285	10.3621	0.44001	0.0:0.4336:0.0:0.5664	.	88	Q8WWX9	SELM_HUMAN	H	88	.	ENSP00000383155:R88H	R	-	2	0	RP3-412A9.11	29831210	0.942000	0.31987	0.001000	0.08648	0.976000	0.68499	0.631000	0.24568	-0.082000	0.12640	0.561000	0.74099	CGC		0.692	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		7	16	0	0	0	1	0	7	16					T	31501210	C	T	31501210	1	4	435	0	1	0	0	0	0	0	0	0	14017	768	27	1		1	SELM	22	31501210	IGR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	198900	31501210	19803356	8901	29826											
PLA2G3	50487	broad.mit.edu	37	chr22	31534279	31534279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccgccccaccagtaccaCgccacacacgcctcctgctc	8	5	5	23	3	0	0	0	0	0	0	2	0	1	0	8	0	3	2	8	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31534279C>T	ENST00000215885.3	-	3	1017	c.765G>A	c.(763-765)gcG>gcA	p.A255A		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	255	Phospholipase A2-like.				acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ACCAGTACCACGCCACACACG	0.617																																						ENST00000215885.3																			0				large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						c.(763-765)gcG>gcA		phospholipase A2, group III							62	50	54					22																	31534279		2203	4300	6503	SO:0001819	synonymous_variant	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31534279C>T	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.765G>A	22.37:g.31534279C>T							p.A255A	NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN			3	1017	-			255			Phospholipase A2-like.		O95768	Silent	SNP	ENST00000215885.3	37	c.765G>A	CCDS13889.1																																																																																				0.617	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		6	13	0	0	0	1	0	6	13					T	31534279	C	T	31534279	2	4	435	1	0	0	0	0	0	0	0	1	12000	523	19	1		1	PLA2G3	22	31534279	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33069	31534279	19770287	8902	29827											
LIMK2	3985	broad.mit.edu	37	chr22	31662048	31662048	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcagctattcacagcAgatcttccggccctgtgacc	8	10	8	15	1	2	2	1	1	1	1	4	2	4	2	4	1	3	3	4	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31662048A>G	ENST00000331728.4	+	8	1085	c.971A>G	c.(970-972)cAg>cGg	p.Q324R	LIMK2_ENST00000406516.1_Missense_Mutation_p.Q246R|LIMK2_ENST00000444929.2_Missense_Mutation_p.Q78R|LIMK2_ENST00000340552.4_Missense_Mutation_p.Q303R|LIMK2_ENST00000333611.4_Missense_Mutation_p.Q303R	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	324					phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TATTCACAGCAGATCTTCCGG	0.577																																						ENST00000331728.4																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(970-972)cAg>cGg		LIM domain kinase 2							97	94	95					22																	31662048		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31662048A>G	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.971A>G	22.37:g.31662048A>G	ENSP00000332687:p.Gln324Arg					LIMK2_ENST00000406516.1_Missense_Mutation_p.Q246R|LIMK2_ENST00000444929.2_Missense_Mutation_p.Q78R|LIMK2_ENST00000333611.4_Missense_Mutation_p.Q303R|LIMK2_ENST00000340552.4_Missense_Mutation_p.Q303R	p.Q324R	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN			8	1085	+			324					A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.971A>G	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	A	6.894	0.534549	0.13188	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43	5.15	5.15	0.70609	Protein kinase-like domain (1);	0.055725	0.85682	D	0.000000	T	0.74419	0.3714	N	0.05230	-0.09	0.45025	D	0.998049	B;B;B;B;B	0.10296	0.003;0.001;0.001;0.0;0.002	B;B;B;B;B	0.09377	0.002;0.001;0.001;0.001;0.004	T	0.70085	-0.4969	10	0.02654	T	1	-32.5019	14.4623	0.67459	1.0:0.0:0.0:0.0	.	356;303;78;324;246	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	R	246;78;324;356;303;303	ENSP00000384602:Q246R;ENSP00000409522:Q78R;ENSP00000332687:Q324R;ENSP00000330470:Q303R;ENSP00000339916:Q303R	ENSP00000332687:Q324R	Q	+	2	0	LIMK2	29992048	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.619000	0.61218	2.071000	0.62044	0.383000	0.25322	CAG		0.577	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		3	49	0	0	0	1	0	3	49					G	31662048	A	G	31662048	3	3	435	1	0	0	0	0	1	0	0	0	8802	188	7	4	1058	4	LIMK2	22	31662048	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	127769	31662048	19642518	8903	29828											
LIMK2	3985	broad.mit.edu	37	chr22	31672776	31672777	+	Intron	INS	-	-	C																															ccacgcatctactttcagagINSccccccccggggccgcagga																								rs540206607	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31672776_31672777insC	ENST00000331728.4	+	15	1886				LIMK2_ENST00000406516.1_Splice_Site_p.A514fs|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000467301.1_Intron|LIMK2_ENST00000340552.4_Splice_Site_p.A571fs|LIMK2_ENST00000333611.4_Intron	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2						phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TACTTTCAGAGCCCCCCCCGGG	0.733													?|CCCCCCCC|CCCCCCCCC|unsure	14	0.00279553	0.0023	0	5008	,	,		7875	0.006		0.002	False		,,,				2504	0.0031					ENST00000340552.4																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.e15-1		LIM domain kinase 2																																				SO:0001627	intron_variant	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31672776_31672777insC	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1772+1482->C	22.37:g.31672784_31672784dupC						LIMK2_ENST00000406516.1_Splice_Site_p.P514_splice|LIMK2_ENST00000333611.4_Intron|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000467301.1_Intron|LIMK2_ENST00000331728.4_Intron	p.P571_splice	NM_001031801.1	NP_001026971.1	P53671	LIMK2_HUMAN			15	1941_1942	+			0			Protein kinase.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Splice_Site	INS	ENST00000331728.4	37	c.1709_splice	CCDS13891.1																																																																																				0.733	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		13	5						13	5	---	---	---	---	C	31672777	-	C	31672776	6	5	435	0	1	1	1	0	0	0	0	0	8802	985	34	0		0	LIMK2	22	31672776	Intron	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	10728	31672776	19631790	8904	29829											
PATZ1	23598	broad.mit.edu	37	chr22	31731813	31731813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacaggccaggtgggagcGcagacggtctcgggtggcaa	9	5	18	9	3	1	2	0	1	1	1	2	3	1	3	1	6	1	2	1	6	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31731813G>A	ENST00000266269.5	-	3	2001	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C	PATZ1_ENST00000351933.4_Missense_Mutation_p.R458C|PATZ1_ENST00000405309.3_Missense_Mutation_p.R458C|RP3-400N23.6_ENST00000440456.1_RNA|RP3-400N23.6_ENST00000451161.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	458					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						AGGTGGGAGCGCAGACGGTCT	0.562																																						ENST00000266269.5																		EWSR1/PATZ1(2)	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						c.(1372-1374)Cgc>Tgc		POZ (BTB) and AT hook containing zinc finger 1							81	69	73					22																	31731813		2203	4300	6503	SO:0001583	missense	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31731813G>A	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13071	protein-coding gene	gene with protein product		605165	"zinc finger protein 278"	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1372C>T	22.37:g.31731813G>A	ENSP00000266269:p.Arg458Cys					RP3-400N23.6_ENST00000440456.1_RNA|RP3-400N23.6_ENST00000451161.1_RNA|PATZ1_ENST00000405309.3_Missense_Mutation_p.R458C|PATZ1_ENST00000351933.4_Missense_Mutation_p.R458C	p.R458C	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN			3	2001	-			458					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.1372C>T	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572898	0.86542	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933	T;T;T	0.12147	2.74;2.71;2.77	5.33	5.33	0.75918	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.993;0.994	T	0.19353	-1.0308	10	0.51188	T	0.08	-22.4309	18.0252	0.89266	0.0:0.0:1.0:0.0	.	458;458;458	Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;PATZ1_HUMAN;.	C	458	ENSP00000266269:R458C;ENSP00000384173:R458C;ENSP00000337520:R458C	ENSP00000266269:R458C	R	-	1	0	PATZ1	30061813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.634000	0.74290	2.504000	0.84457	0.563000	0.77884	CGC		0.562	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		18	26	0	0	0	1	0	18	26					A	31731813	G	A	31731813	3	1	435	1	0	0	0	0	1	0	0	0	11476	1087	38	1	703	1	PATZ1	22	31731813	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59037	31731813	19572753	8905	29830											
SFI1	9814	broad.mit.edu	37	chr22	32009508	32009508	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagctgcaggcccagcagCaggtccaggtaggcccaggg	9	3	16	13	0	0	0	0	0	0	0	1	0	1	0	3	5	5	6	3	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:32009508C>T	ENST00000400288.2	+	26	2839	c.2734C>T	c.(2734-2736)Cag>Tag	p.Q912*	SFI1_ENST00000443011.1_Nonsense_Mutation_p.Q759*|SFI1_ENST00000443326.1_Nonsense_Mutation_p.Q830*|SFI1_ENST00000400289.1_Nonsense_Mutation_p.Q830*|SFI1_ENST00000540643.1_Nonsense_Mutation_p.Q857*|SFI1_ENST00000432498.1_Nonsense_Mutation_p.Q881*|SFI1_ENST00000414585.1_Nonsense_Mutation_p.Q759*	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	912					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			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						GGCCCAGCAGCAGGTCCAGGT	0.677																																						ENST00000432498.1																			0				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						c.(2641-2643)Cag>Tag		Sfi1 homolog, spindle assembly associated (yeast)							8	10	10					22																	32009508		2079	4181	6260	SO:0001587	stop_gained	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32009508C>T	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2734C>T	22.37:g.32009508C>T	ENSP00000383145:p.Gln912*					SFI1_ENST00000443011.1_Nonsense_Mutation_p.Q759*|SFI1_ENST00000414585.1_Nonsense_Mutation_p.Q759*|SFI1_ENST00000400288.2_Nonsense_Mutation_p.Q912*|SFI1_ENST00000400289.1_Nonsense_Mutation_p.Q830*|SFI1_ENST00000540643.1_Nonsense_Mutation_p.Q857*|SFI1_ENST00000443326.1_Nonsense_Mutation_p.Q830*	p.Q881*	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			25	3034	+			912					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Nonsense_Mutation	SNP	ENST00000400288.2	37	c.2641C>T	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	C	40	8.243837	0.98722	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	.	.	.	5.42	5.42	0.78866	.	0.136049	0.50627	D	0.000102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7803	0.88522	0.0:1.0:0.0:0.0	.	.	.	.	X	881;857;830;661;759;759;830;912;495	.	ENSP00000383145:Q912X	Q	+	1	0	SFI1	30339508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.787000	0.47798	2.545000	0.85829	0.563000	0.77884	CAG		0.677	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		4	5	0	0	0	1	0	4	5					T	32009508	C	T	32009508	4	4	435	1	0	0	0	0	0	1	0	0	14156	711	25	3	2832	3	SFI1	22	32009508	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	277695	32009508	19295058	8906	29831											
DEPDC5	9681	broad.mit.edu	37	chr22	32239701	32239701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactcagactcagagttcGtctcctgctgggtggaattc	7	11	10	13	1	3	2	2	0	1	2	6	3	3	3	2	2	1	2	2	2	1	2	rs374944205		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:32239701G>A	ENST00000382112.3	+	28	2747	c.2677G>A	c.(2677-2679)Gtc>Atc	p.V893I	DEPDC5_ENST00000382105.2_Missense_Mutation_p.V824I|DEPDC5_ENST00000535622.1_Missense_Mutation_p.V824I|DEPDC5_ENST00000400246.1_Missense_Mutation_p.V902I|DEPDC5_ENST00000266091.3_Missense_Mutation_p.V902I|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V893I|DEPDC5_ENST00000382111.2_Missense_Mutation_p.V902I|DEPDC5_ENST00000400248.2_Missense_Mutation_p.V893I	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	902					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			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						CTCAGAGTTCGTCTCCTGCTG	0.498																																						ENST00000400246.1																			0				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						c.(2704-2706)Gtc>Atc		DEP domain containing 5		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,3809		0,1,1904	109	106	107		2677,2704,2470,2677	5.8	1	22		107	0,8232		0,0,4116	no	missense,missense,missense,missense	DEPDC5	NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	29,29,29,29	0,1,6020	AA,AG,GG		0.0,0.0262,0.0083	benign,benign,benign,benign	893/1595,902/1604,824/1504,893/1573	32239701	1,12041	1905	4116	6021	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32239701G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2677G>A	22.37:g.32239701G>A	ENSP00000371546:p.Val893Ile					DEPDC5_ENST00000266091.3_Missense_Mutation_p.V902I|DEPDC5_ENST00000535622.1_Missense_Mutation_p.V824I|DEPDC5_ENST00000400248.1_Missense_Mutation_p.V893I|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V893I|DEPDC5_ENST00000382105.2_Missense_Mutation_p.V824I|DEPDC5_ENST00000382111.2_Missense_Mutation_p.V902I|DEPDC5_ENST00000382112.3_Missense_Mutation_p.V893I	p.V902I			O75140	DEPD5_HUMAN			29	2846	+			893					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.2704G>A	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.988678|2.988678	0.53934|0.53934	2.62E-4|2.62E-4	0.0|0.0	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.|T;T;T;T;T;T;T;T	.|0.20881	.|2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.17534|0.17534	0.0421|0.0421	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|P;P;P;P;B;P	.|0.46512	.|0.566;0.858;0.879;0.789;0.336;0.685	.|B;B;B;B;B;B	.|0.39971	.|0.315;0.173;0.225;0.182;0.022;0.089	T|T	0.01516|0.01516	-1.1335|-1.1335	5|10	.|0.33141	.|T	.|0.24	.|.	19.0579|19.0579	0.93074|0.93074	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|223;902;824;902;893;893	.|B4DSS1;B9EGN9;B4DH93;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	H|I	299|824;902;893;824;902;824;893;902;893	.|ENSP00000440210:V824I;ENSP00000266091:V902I;ENSP00000383108:V893I;ENSP00000383105:V902I;ENSP00000371539:V824I;ENSP00000371546:V893I;ENSP00000371545:V902I;ENSP00000383107:V893I	.|ENSP00000266091:V902I	R|V	+|+	2|1	0|0	DEPDC5|DEPDC5	30569701|30569701	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	4.022000|4.022000	0.57203|0.57203	2.756000|2.756000	0.94617|0.94617	0.650000|0.650000	0.86243|0.86243	CGT|GTC		0.498	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		28	50	0	0	0	1	0	28	50					A	32239701	G	A	32239701	3	1	435	1	0	0	0	0	1	0	0	0	4442	1145	40	1	2805	1	DEPDC5	22	32239701	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	230193	32239701	19064865	8907	29832											
DEPDC5	9681	broad.mit.edu	37	chr22	32272191	32272191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcatctggcgaagcctggCggaccttcatctacggcttc	7	10	11	13	3	3	0	1	0	2	0	4	2	3	1	2	4	3	2	2	4	2	3	rs147817091		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:32272191C>T	ENST00000382112.3	+	36	3788	c.3718C>T	c.(3718-3720)Cgg>Tgg	p.R1240W	DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1149W|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R1249W|DEPDC5_ENST00000539165.1_Missense_Mutation_p.R66W|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R1227W|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R1249W|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1218W|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R1218W	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1249	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			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						CGAAGCCTGGCGGACCTTCAT	0.517													C|||	1	0.000199681	8e-04	0	5008	,	,		16567	0		0	False		,,,				2504	0					ENST00000400246.1																			0				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						c.(3745-3747)Cgg>Tgg		DEP domain containing 5							163	157	159					22																	32272191		1904	4134	6038	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32272191C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3718C>T	22.37:g.32272191C>T	ENSP00000371546:p.Arg1240Trp					DEPDC5_ENST00000266091.3_Missense_Mutation_p.R1227W|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1149W|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R1218W|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R1249W|DEPDC5_ENST00000539165.1_Missense_Mutation_p.R66W|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R1240W|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1218W	p.R1249W			O75140	DEPD5_HUMAN			37	3887	+			1218					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.3745C>T	CCDS46692.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	c|c	24.6|24.6	4.545761|4.545761	0.86022|0.86022	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	.|T;T;T;T;T;T;T;T	.|0.23147	.|1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	5.27|5.27	4.25|4.25	0.50352|0.50352	.|DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.067862	.|0.64402	.|D	.|0.000018	T|T	0.44891|0.44891	0.1315|0.1315	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.998;0.999;0.999;0.997;0.998;0.998	T|T	0.40421|0.40421	-0.9564|-0.9564	5|10	.|0.72032	.|D	.|0.01	.|.	12.4372|12.4372	0.55606|0.55606	0.3038:0.6962:0.0:0.0|0.3038:0.6962:0.0:0.0	.|.	.|1249;1149;635;1227;1240;1218	.|B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	V|W	624|1149;1227;1218;1149;1249;1240;1249;1218;66	.|ENSP00000440210:R1149W;ENSP00000266091:R1227W;ENSP00000383108:R1218W;ENSP00000383105:R1249W;ENSP00000371546:R1240W;ENSP00000371545:R1249W;ENSP00000383107:R1218W;ENSP00000446286:R66W	.|ENSP00000266091:R1227W	A|R	+|+	2|1	0|2	DEPDC5|DEPDC5	30602191|30602191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.573000|2.573000	0.46007|0.46007	1.217000|1.217000	0.43442|0.43442	0.645000|0.645000	0.84053|0.84053	GCG|CGG		0.517	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		41	76	0	0	0	1	0	41	76					T	32272191	C	T	32272191	3	4	435	1	0	0	0	0	1	0	0	0	4442	759	27	1	3878	1	DEPDC5	22	32272191	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32490	32272191	19032375	8908	29833											
C22orf42	150297	broad.mit.edu	37	chr22	32546394	32546394	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaagagagacagataggCtttcactgagatccgatgtc	12	10	10	9	1	2	4	2	1	0	4	4	7	3	4	1	1	0	1	1	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:32546394C>G	ENST00000382097.3	-	7	638	c.566G>C	c.(565-567)aGc>aCc	p.S189T	C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	189										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GACAGATAGGCTTTCACTGAG	0.443																																						ENST00000382097.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						c.(565-567)aGc>aCc		chromosome 22 open reading frame 42							145	130	135					22																	32546394		2203	4300	6503	SO:0001583	missense	150297							g.chr22:32546394C>G	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.566G>C	22.37:g.32546394C>G	ENSP00000371529:p.Ser189Thr						p.S189T	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN			7	638	-			189					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.566G>C	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	c	1.954	-0.440400	0.04636	.	.	ENSG00000205856	ENST00000382097	T	0.24350	1.86	0.541	0.541	0.17168	.	.	.	.	.	T	0.15696	0.0378	N	0.08118	0	0.09310	N	1	B	0.28667	0.219	B	0.39217	0.294	T	0.40021	-0.9585	8	0.44086	T	0.13	.	.	.	.	.	189	Q6IC83	CV042_HUMAN	T	189	ENSP00000371529:S189T	ENSP00000371529:S189T	S	-	2	0	C22orf42	30876394	0.016000	0.18221	0.001000	0.08648	0.134000	0.20937	0.358000	0.20216	0.602000	0.29896	0.089000	0.15464	AGC		0.443	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		15	82	0	0	0	1	0	15	82					G	32546394	C	G	32546394	3	3	435	1	0	0	0	0	1	0	0	0	2149	797	28	5	201	5	C22orf42	22	32546394	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	274203	32546394	18758172	8909	29834											
RFPL3	10738	broad.mit.edu	37	chr22	32756259	32756259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggatatgaccttggatgccGacacagccaacaacttcctc	11	9	8	13	1	0	1	0	1	0	0	2	4	1	3	4	2	4	0	4	2	3	3	rs146565766	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:32756259G>A	ENST00000249007.4	+	2	599	c.394G>A	c.(394-396)Gac>Aac	p.D132N	RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000382088.3_Missense_Mutation_p.D103N|RFPL3_ENST00000397468.1_Missense_Mutation_p.D103N|RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000400234.1_3'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	132	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.D132Y(1)|p.D103Y(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CTTGGATGCCGACACAGCCAA	0.502													g|||	3	0.000599042	0	0	5008	,	,		19515	0.001		0.001	False		,,,				2504	0.001					ENST00000249007.4																			2	Substitution - Missense(2)	p.D132Y(1)|p.D103Y(1)	lung(2)	cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(394-396)Gac>Aac		ret finger protein-like 3		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	123	112	116		394,307	-0.7	0.1	22	dbSNP_134	116	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	RFPL3	NM_001098535.1,NM_006604.2	23,23	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	132/318,103/289	32756259	3,13003	2203	4300	6503	SO:0001583	missense	10738						zinc ion binding	g.chr22:32756259G>A	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.394G>A	22.37:g.32756259G>A	ENSP00000249007:p.Asp132Asn					RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.D103N|RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.D103N	p.D132N	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN			2	599	+			132			B30.2/SPRY.		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	c.394G>A	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	G	6.622	0.483267	0.12581	0.0	3.49E-4	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.07800	3.16;3.16;3.16	0.664	-0.657	0.11432	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.05044	0.0135	N	0.21545	0.675	0.36084	D	0.84299	B	0.21905	0.062	B	0.22152	0.038	T	0.33548	-0.9864	9	0.42905	T	0.14	.	4.5983	0.12341	0.4728:0.0:0.5272:0.0	.	132	O75679	RFPL3_HUMAN	N	103;132;103	ENSP00000380609:D103N;ENSP00000249007:D132N;ENSP00000371520:D103N	ENSP00000249007:D132N	D	+	1	0	RFPL3	31086259	0.000000	0.05858	0.102000	0.21198	0.095000	0.18619	0.003000	0.13083	-0.536000	0.06298	-1.050000	0.02344	GAC		0.502	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		4	66	0	0	0	1	0	4	66					A	32756259	G	A	32756259	3	1	435	1	0	0	0	0	1	0	0	0	13255	1058	37	2	400	2	RFPL3	22	32756259	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	209865	32756259	18548307	8910	29835											
SYN3	8224	broad.mit.edu	37	chr22	33402644	33402644	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacgtcgccggaggaaatTcatggctgtggatggatgga	10	8	17	6	3	1	1	1	0	0	1	2	7	1	6	1	6	0	1	1	6	1	1	rs369941129		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:33402644T>C	ENST00000358763.2	-	2	246	c.4A>G	c.(4-6)Aat>Gat	p.N2D	SYN3_ENST00000332840.5_Missense_Mutation_p.N2D	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	2	A.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CGGAGGAAATTCATGGCTGTG	0.572											OREG0003521	type=REGULATORY REGION|Gene=SYN3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000358763.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(4-6)Aat>Gat		synapsin III		T	ASP/ASN,ASP/ASN,ASP/ASN	0,4406		0,0,2203	69	72	71		4,4,4	4.7	1	22		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SYN3	NM_001135774.1,NM_003490.3,NM_133633.2	23,23,23	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	2/580,2/581,2/445	33402644	1,13005	2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:33402644T>C	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.4A>G	22.37:g.33402644T>C	ENSP00000351614:p.Asn2Asp		OREG0003521	type=REGULATORY REGION|Gene=SYN3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	839	SYN3_ENST00000332840.5_Missense_Mutation_p.N2D	p.N2D	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN			2	246	-			2			A.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.4A>G	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.862351	0.91511	0.0	1.16E-4	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686;ENST00000441821;ENST00000412575	T;T	0.39229	1.09;1.09	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	M	0.64404	1.975	0.52501	D	0.999956	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.79108	0.992;0.992;0.992	T	0.65705	-0.6103	10	0.87932	D	0	-5.8986	14.4949	0.67680	0.0:0.0:0.0:1.0	.	2;2;2	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	D	2	ENSP00000351614:N2D;ENSP00000330219:N2D	ENSP00000330219:N2D	N	-	1	0	SYN3	31732644	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.883000	0.87264	1.883000	0.54544	0.374000	0.22700	AAT		0.572	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			24	34	0	0	0	1	0	24	34					C	33402644	T	C	33402644	3	2	435	1	0	0	0	0	1	0	0	0	15439	1783	62	4	1790	4	SYN3	22	33402644	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	646385	33402644	17901922	8911	29836											
HMGXB4	10042	broad.mit.edu	37	chr22	35660782	35660782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaaaagactggggagaaatCctctggctcttcaagccatt	13	9	9	10	0	3	2	1	0	2	2	4	3	4	2	2	3	1	1	2	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:35660782C>T	ENST00000216106.5	+	5	529	c.401C>T	c.(400-402)tCc>tTc	p.S134F	HMGXB4_ENST00000444518.2_Missense_Mutation_p.S25F	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	134					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGGAGAAATCCTCTGGCTCT	0.532																																						ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(400-402)tCc>tTc		HMG box domain containing 4							50	53	52					22																	35660782		2203	4300	6503	SO:0001583	missense	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35660782C>T	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"High mobility group / Non-canonical"	5003	protein-coding gene	gene with protein product		604702	"high-mobility group protein 2-like 1"	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.401C>T	22.37:g.35660782C>T	ENSP00000216106:p.Ser134Phe					HMGXB4_ENST00000444518.2_Missense_Mutation_p.S25F	p.S134F	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			5	529	+			134					O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	c.401C>T	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429708	0.62844	.	.	ENSG00000100281	ENST00000420166;ENST00000444518;ENST00000455359;ENST00000216106	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.89	5.89	0.94794	.	0.156603	0.64402	D	0.000015	T	0.52948	0.1766	L	0.27053	0.805	0.42695	D	0.99359	D	0.60575	0.988	D	0.64321	0.924	T	0.55354	-0.8154	10	0.72032	D	0.01	-1.7547	12.5414	0.56172	0.0:0.9247:0.0:0.0753	.	134	Q9UGU5	HMGX4_HUMAN	F	25;25;25;134	ENSP00000401658:S25F;ENSP00000398302:S25F;ENSP00000415500:S25F;ENSP00000216106:S134F	ENSP00000216106:S134F	S	+	2	0	HMGXB4	33990782	1.000000	0.71417	0.764000	0.31436	0.892000	0.51952	4.690000	0.61731	2.797000	0.96272	0.563000	0.77884	TCC		0.532	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		4	64	0	0	0	1	0	4	64					T	35660782	C	T	35660782	3	4	435	1	0	0	0	0	1	0	0	0	7239	855	30	3	415	3	HMGXB4	22	35660782	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2258138	35660782	15643784	8912	29837											
HMGXB4	10042	broad.mit.edu	37	chr22	35660803	35660803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctggctcttcaagccattCggagagtaaaaaggagcacc	12	8	10	11	1	3	1	1	0	2	1	4	3	3	2	2	3	2	3	2	3	4	3	rs199695099		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:35660803C>T	ENST00000216106.5	+	5	550	c.422C>T	c.(421-423)tCg>tTg	p.S141L	HMGXB4_ENST00000444518.2_Missense_Mutation_p.S32L	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	141					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCAAGCCATTCGGAGAGTAAA	0.502													C|||	1	0.000199681	8e-04	0	5008	,	,		17326	0		0	False		,,,				2504	0					ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(421-423)tCg>tTg		HMG box domain containing 4							54	56	55					22																	35660803		2203	4300	6503	SO:0001583	missense	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35660803C>T	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"High mobility group / Non-canonical"	5003	protein-coding gene	gene with protein product		604702	"high-mobility group protein 2-like 1"	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.422C>T	22.37:g.35660803C>T	ENSP00000216106:p.Ser141Leu					HMGXB4_ENST00000444518.2_Missense_Mutation_p.S32L	p.S141L	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			5	550	+			141					O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	c.422C>T	CCDS33641.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.86	2.958628	0.53400	.	.	ENSG00000100281	ENST00000420166;ENST00000444518;ENST00000455359;ENST00000216106	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.89	5.89	0.94794	.	0.361413	0.29376	N	0.012337	T	0.51261	0.1664	L	0.29908	0.895	0.42916	D	0.994273	D	0.61080	0.989	P	0.51516	0.672	T	0.53330	-0.8454	10	0.72032	D	0.01	-2.3941	20.2562	0.98421	0.0:1.0:0.0:0.0	.	141	Q9UGU5	HMGX4_HUMAN	L	32;32;32;141	ENSP00000401658:S32L;ENSP00000398302:S32L;ENSP00000415500:S32L;ENSP00000216106:S141L	ENSP00000216106:S141L	S	+	2	0	HMGXB4	33990803	0.985000	0.35326	0.331000	0.25455	0.864000	0.49448	3.533000	0.53561	2.797000	0.96272	0.563000	0.77884	TCG		0.502	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		27	38	0	0	0	1	0	27	38					T	35660803	C	T	35660803	3	4	435	1	0	0	0	0	1	0	0	0	7239	893	31	2	436	2	HMGXB4	22	35660803	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21	35660803	15643763	8913	29838											
HMOX1	3162	broad.mit.edu	37	chr22	35782786	35782786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcccagaagagctgcacCgcaaggctgccctggagcag	10	5	12	14	1	0	2	0	0	0	2	1	3	1	3	3	2	4	5	3	2	2	1	rs141730669	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:35782786C>T	ENST00000216117.8	+	3	592	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	85					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	AGAGCTGCACCGCAAGGCTGC	0.627													C|||	3	0.000599042	0.0023	0	5008	,	,		17616	0		0	False		,,,				2504	0					ENST00000216117.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						c.(253-255)Cgc>Tgc		heme oxygenase (decycling) 1	NADH(DB00157)	C	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	52	54	53		253	4.8	1	22	dbSNP_134	53	0,8600		0,0,4300	yes	missense	HMOX1	NM_002133.2	180	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	85/289	35782786	3,13003	2203	4300	6503	SO:0001583	missense	3162				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	g.chr22:35782786C>T		CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.253C>T	22.37:g.35782786C>T	ENSP00000216117:p.Arg85Cys						p.R85C	NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN			3	592	+			85						Missense_Mutation	SNP	ENST00000216117.8	37	c.253C>T	CCDS13914.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	16.90	3.250049	0.59212	6.81E-4	0.0	ENSG00000100292	ENST00000412893;ENST00000216117	T;T	0.44482	0.92;0.92	5.8	4.79	0.61399	Haem oxygenase-like, multi-helical (2);	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83265	-0.0046	10	0.87932	D	0	-24.303	14.8491	0.70284	0.0:0.9312:0.0:0.0688	.	85	P09601	HMOX1_HUMAN	C	85	ENSP00000413316:R85C;ENSP00000216117:R85C	ENSP00000216117:R85C	R	+	1	0	HMOX1	34112786	1.000000	0.71417	0.992000	0.48379	0.187000	0.23431	4.743000	0.62110	1.476000	0.48215	-0.136000	0.14681	CGC		0.627	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1			20	23	0	0	0	1	0	20	23					T	35782786	C	T	35782786	3	4	435	1	0	0	0	0	1	0	0	0	7243	652	23	2	263	2	HMOX1	22	35782786	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	121983	35782786	15521780	8914	29839											
HMOX1	3162	broad.mit.edu	37	chr22	35782930	35782930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagctgctggtggcccacGcctacacccgctacctgggt	5	7	12	17	3	0	0	0	0	0	0	0	1	0	0	5	3	4	3	5	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:35782930G>A	ENST00000216117.8	+	3	736	c.397G>A	c.(397-399)Gcc>Acc	p.A133T		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	133					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	GGTGGCCCACGCCTACACCCG	0.662																																						ENST00000216117.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						c.(397-399)Gcc>Acc		heme oxygenase (decycling) 1	NADH(DB00157)						36	43	40					22																	35782930		2203	4300	6503	SO:0001583	missense	3162				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	g.chr22:35782930G>A		CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.397G>A	22.37:g.35782930G>A	ENSP00000216117:p.Ala133Thr						p.A133T	NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN			3	736	+			133						Missense_Mutation	SNP	ENST00000216117.8	37	c.397G>A	CCDS13914.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770502	0.69992	.	.	ENSG00000100292	ENST00000412893;ENST00000216117	T;T	0.25912	1.77;1.77	5.8	3.71	0.42584	Haem oxygenase conserved site (1);Haem oxygenase-like, multi-helical (2);	0.047923	0.85682	N	0.000000	T	0.34337	0.0894	M	0.86028	2.79	0.80722	D	1	P	0.41524	0.753	B	0.38500	0.275	T	0.35599	-0.9782	10	0.54805	T	0.06	-18.6418	12.8496	0.57850	0.1332:0.0:0.8668:0.0	.	133	P09601	HMOX1_HUMAN	T	133	ENSP00000413316:A133T;ENSP00000216117:A133T	ENSP00000216117:A133T	A	+	1	0	HMOX1	34112930	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	2.919000	0.48836	0.808000	0.34231	-0.140000	0.14226	GCC		0.662	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1			17	24	0	0	0	1	0	17	24					A	35782930	G	A	35782930	3	1	435	1	0	0	0	0	1	0	0	0	7243	1087	38	1	407	1	HMOX1	22	35782930	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	144	35782930	15521636	8915	29840											
RBM9	23543	broad.mit.edu	37	chr22	36142522	36142522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtctctgtacatacccGtcactgtaagcggctgcagc	8	10	9	14	2	2	0	1	0	1	0	3	0	2	0	1	1	5	4	1	1	3	3	rs368460878		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36142522G>A	ENST00000405409.2	-	10	1342	c.974C>T	c.(973-975)aCg>aTg	p.T325M	RBFOX2_ENST00000262829.7_Silent_p.D319D|RBFOX2_ENST00000449924.2_Silent_p.D341D|RBFOX2_ENST00000359369.4_Missense_Mutation_p.T328M|RBFOX2_ENST00000438146.2_Silent_p.D412D|RBFOX2_ENST00000414461.2_Missense_Mutation_p.T328M|RBFOX2_ENST00000397303.2_Silent_p.D318D|RBFOX2_ENST00000416721.2_Silent_p.D337D	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	0	Ala-rich.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						GTACATACCCGTCACTGTAag	0.547																																						ENST00000405409.2																			0				endometrium(4)|large_intestine(7)|lung(7)	18						c.(973-975)aCg>aTg		RNA binding protein, fox-1 homolog (C. elegans) 2		G	,,MET/THR,,,MET/THR	0,4406		0,0,2203	72	69	70		1023,1011,983,1236,1233,974	0.8	1	22		70	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,missense,coding-synonymous,coding-synonymous,missense	RBFOX2	NM_001031695.2,NM_001082576.1,NM_001082577.1,NM_001082578.1,NM_001082579.1,NM_014309.2	,,81,,,81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,,,	341/381,337/377,328/371,412/452,411/451,325/368	36142522	2,13004	2203	4300	6503	SO:0001583	missense	23543				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	g.chr22:36142522G>A	AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"RNA binding motif (RRM) containing"	9906	protein-coding gene	gene with protein product	"hexaribonucleotide binding protein 2"	612149	"RNA binding motif protein 9"	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000405409.2:c.974C>T	22.37:g.36142522G>A	ENSP00000384944:p.Thr325Met					RBFOX2_ENST00000438146.2_Silent_p.D412D|RBFOX2_ENST00000414461.2_Missense_Mutation_p.T328M|RBFOX2_ENST00000397303.2_Silent_p.D318D|RBFOX2_ENST00000449924.2_Silent_p.D341D|RBFOX2_ENST00000359369.4_Missense_Mutation_p.T328M|RBFOX2_ENST00000416721.2_Silent_p.D337D|RBFOX2_ENST00000262829.7_Silent_p.D319D	p.T325M	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN			10	1342	-			0			Ala-rich.		A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	ENST00000405409.2	37	c.974C>T	CCDS13921.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148138	0.37923	0.0	2.33E-4	ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000414461;ENST00000359369	T;T;T	0.37915	1.52;1.37;1.17	5.15	0.825	0.18824	.	.	.	.	.	T	0.26774	0.0655	.	.	.	0.80722	D	1	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.06405	0.001;0.001;0.002	T	0.06661	-1.0814	8	0.59425	D	0.04	.	7.8939	0.29695	0.5762:0.0:0.4238:0.0	.	328;325;328	B0QYY4;O43251-9;O43251-4	.;.;.	M	325;358;328;328	ENSP00000384944:T325M;ENSP00000407855:T328M;ENSP00000352328:T328M	ENSP00000342831:T358M	T	-	2	0	RBFOX2	34472468	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	0.604000	0.24164	0.083000	0.17047	0.561000	0.74099	ACG		0.547	RBFOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318976.3			28	40	0	0	0	1	0	28	40					A	36142522	G	A	36142522	3	1	435	1	0	0	0	0	1	0	0	0	13147	1145	40	1	141	1	RBM9	22	36142522	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	359592	36142522	15162044	8916	29841											
APOL4	80832	broad.mit.edu	37	chr22	36587468	36587468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatcatttttgtggcttcGtcaaaatcaagtgcaaaaga	14	12	8	7	1	3	1	3	0	0	1	4	1	3	1	0	1	1	3	0	1	6	3	rs199867930	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36587468G>A	ENST00000352371.1	-	6	932	c.708C>T	c.(706-708)gaC>gaT	p.D236D	APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000332987.1_Silent_p.D233D|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000479929.1_5'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	237					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	extracellular space (GO:0005615)	lipid binding (GO:0008289)			lung(1)	1						TTGTGGCTTCGTCAAAATCAA	0.458													G|||	2	0.000399361	0	0	5008	,	,		24583	0.001		0.001	False		,,,				2504	0					ENST00000332987.1																			0				lung(1)	1						c.(697-699)gaC>gaT		apolipoprotein L, 4			,	4,4336		0,4,2166	97	91	93		700,709	-3.4	0	22		93	1,8577		0,1,4288	yes	coding-synonymous,coding-synonymous	APOL4	NM_030643.3,NM_145660.1	,	0,5,6454	AA,AG,GG		0.0117,0.0922,0.0387	,	234/349,237/352	36587468	5,12913	2170	4289	6459	SO:0001819	synonymous_variant	80832				lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding	g.chr22:36587468G>A	AF305226	CCDS74851.1, CCDS74852.1	22q11.2-q13.2	2013-01-24			ENSG00000100336	ENSG00000100336		"Apolipoproteins"	14867	protein-coding gene	gene with protein product		607254				11374903	Standard	NM_030643		Approved	APOLIV	uc003aox.3	Q9BPW4	OTTHUMG00000150630	ENST00000352371.1:c.708C>T	22.37:g.36587468G>A						APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000352371.1_Silent_p.D236D|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000405511.1_3'UTR	p.D233D			Q9BPW4	APOL4_HUMAN			7	1121	-			237					Q9BQ37|Q9BXQ8	Silent	SNP	ENST00000352371.1	37	c.699C>T																																																																																					0.458	APOL4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145660		11	28	0	0	0	1	0	11	28					A	36587468	G	A	36587468	2	1	435	1	0	0	0	0	0	0	0	1	808	1153	40	1		1	APOL4	22	36587468	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	444946	36587468	14717098	8917	29842											
APOL2	23780	broad.mit.edu	37	chr22	36624274	36624274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggtttttgtccttcatgaCcatgtgacttgcaagcttgt	6	16	10	9	1	1	2	1	2	0	0	2	2	2	2	2	1	2	3	2	1	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36624274C>T	ENST00000249066.6	-	6	666	c.190G>A	c.(190-192)Gtc>Atc	p.V64I	APOL2_ENST00000451256.2_Missense_Mutation_p.V176I|APOL2_ENST00000358502.5_Missense_Mutation_p.V64I	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	64					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						TCCTTCATGACCATGTGACTT	0.458																																						ENST00000249066.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						c.(190-192)Gtc>Atc		apolipoprotein L, 2							126	137	133					22																	36624274		2164	4281	6445	SO:0001583	missense	23780				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	g.chr22:36624274C>T	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"Apolipoproteins"	619	protein-coding gene	gene with protein product	"apolipoprotein L-II"	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.190G>A	22.37:g.36624274C>T	ENSP00000249066:p.Val64Ile					APOL2_ENST00000451256.2_Missense_Mutation_p.V176I|APOL2_ENST00000358502.5_Missense_Mutation_p.V64I	p.V64I	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN			6	666	-			64					B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Missense_Mutation	SNP	ENST00000249066.6	37	c.190G>A	CCDS43014.1	.	.	.	.	.	.	.	.	.	.	c	6.245	0.413245	0.11812	.	.	ENSG00000128335	ENST00000358502;ENST00000249066;ENST00000451256;ENST00000529194;ENST00000454728	T;T;T;T;T	0.03413	3.94;3.94;3.94;3.94;3.94	3.96	-2.53	0.06326	.	3.358580	0.00644	N	0.000528	T	0.02418	0.0074	N	0.14661	0.345	0.09310	N	1	B;B	0.21071	0.051;0.004	B;B	0.23150	0.044;0.026	T	0.41945	-0.9480	10	0.35671	T	0.21	.	0.8868	0.01246	0.1571:0.3676:0.165:0.3103	.	176;64	B4E1T5;Q9BQE5	.;APOL2_HUMAN	I	64;64;176;64;64	ENSP00000351292:V64I;ENSP00000249066:V64I;ENSP00000403153:V176I;ENSP00000431231:V64I;ENSP00000400486:V64I	ENSP00000249066:V64I	V	-	1	0	APOL2	34954220	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.982000	0.01489	-0.239000	0.09710	-0.473000	0.04963	GTC		0.458	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	NM_145637		6	160	0	0	0	1	0	6	160					T	36624274	C	T	36624274	3	4	435	1	0	0	0	0	1	0	0	0	806	507	18	3	827	3	APOL2	22	36624274	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	36806	36624274	14680292	8918	29843											
MYH9	4627	broad.mit.edu	37	chr22	36682850	36682850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatctcctcacgagaggCgcgggtgtcatccagctcgc	7	7	13	14	4	3	1	2	0	1	1	6	3	4	2	2	3	1	1	2	3	0	0	rs371410108		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36682850C>T	ENST00000216181.5	-	35	5205	c.4975G>A	c.(4975-4977)Gcc>Acc	p.A1659T	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1659					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			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						TCACGAGAGGCGCGGGTGTCA	0.642			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)																										ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				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						c.(4975-4977)Gcc>Acc		myosin, heavy chain 9, non-muscle		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	142	121	128		4975	2.2	0.1	22		128	0,8600		0,0,4300	no	missense	MYH9	NM_002473.4	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1659/1961	36682850	1,13005	2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	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	g.chr22:36682850C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4975G>A	22.37:g.36682850C>T	ENSP00000216181:p.Ala1659Thr		OREG0026519	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	864		p.A1659T	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			35	5205	-			1659					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.4975G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	8.411	0.844277	0.16963	2.27E-4	0.0	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.79247	-1.25	5.4	2.2	0.27929	Myosin tail (1);	0.509560	0.21865	N	0.067976	T	0.68054	0.2959	L	0.43598	1.365	0.20196	N	0.999926	B	0.11235	0.004	B	0.23275	0.045	T	0.60831	-0.7185	10	0.56958	D	0.05	.	7.9039	0.29750	0.0:0.6391:0.0:0.3609	.	1659	P35579	MYH9_HUMAN	T	1081;261;1659	ENSP00000216181:A1659T	ENSP00000216181:A1659T	A	-	1	0	MYH9	35012796	0.003000	0.15002	0.125000	0.21846	0.165000	0.22458	-0.027000	0.12371	0.645000	0.30675	-0.252000	0.11476	GCC		0.642	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		33	63	0	0	0	1	0	33	63					T	36682850	C	T	36682850	3	4	435	1	0	0	0	0	1	0	0	0	10042	768	27	1	935	1	MYH9	22	36682850	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	58576	36682850	14621716	8919	29844											
MYH9	4627	broad.mit.edu	37	chr22	36684456	36684456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctctgcctccatctcccGcacctgggggaaggaacatc	8	7	10	16	1	2	0	0	0	2	0	5	2	3	2	4	3	3	2	4	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36684456G>A	ENST00000216181.5	-	34	5004	c.4774C>T	c.(4774-4776)Cgg>Tgg	p.R1592W	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1592					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			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						TCCATCTCCCGCACCTGGGGG	0.622			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				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						c.(4774-4776)Cgg>Tgg		myosin, heavy chain 9, non-muscle							62	53	56					22																	36684456		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	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	g.chr22:36684456G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4774C>T	22.37:g.36684456G>A	ENSP00000216181:p.Arg1592Trp						p.R1592W	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			34	5004	-			1592					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.4774C>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838787	0.91117	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.79352	-1.26	5.5	5.5	0.81552	Myosin tail (1);	0.123818	0.53938	D	0.000054	D	0.88746	0.6520	M	0.87269	2.87	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.90189	0.4248	10	0.87932	D	0	.	14.5905	0.68362	0.0:0.0:0.8541:0.1459	.	1592	P35579	MYH9_HUMAN	W	1014;194;1592	ENSP00000216181:R1592W	ENSP00000216181:R1592W	R	-	1	2	MYH9	35014402	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.537000	0.67186	2.735000	0.93741	0.655000	0.94253	CGG		0.622	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		13	17	0	0	0	1	0	13	17					A	36684456	G	A	36684456	3	1	435	1	0	0	0	0	1	0	0	0	10042	1086	38	1	1140	1	MYH9	22	36684456	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1606	36684456	14620110	8920	29845											
MYH9	4627	broad.mit.edu	37	chr22	36700195	36700195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctgtcgagctccagggCttttatctaggtgggaggag	7	12	15	7	1	1	0	0	0	1	0	3	3	2	2	1	4	2	3	1	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36700195C>A	ENST00000216181.5	-	19	2466	c.2236G>T	c.(2236-2238)Gcc>Tcc	p.A746S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	746	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			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						AGCTCCAGGGCTTTTATCTAG	0.602			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				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						c.(2236-2238)Gcc>Tcc		myosin, heavy chain 9, non-muscle							56	52	53					22																	36700195		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	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	g.chr22:36700195C>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2236G>T	22.37:g.36700195C>A	ENSP00000216181:p.Ala746Ser						p.A746S	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			19	2466	-			746			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.2236G>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755559	0.49362	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.86769	-2.17	5.01	5.01	0.66863	Myosin head, motor domain (2);	0.122578	0.56097	D	0.000040	T	0.81336	0.4801	L	0.37750	1.13	0.80722	D	1	B	0.15141	0.012	B	0.25506	0.061	T	0.74768	-0.3553	10	0.02654	T	1	.	18.6834	0.91554	0.0:1.0:0.0:0.0	.	746	P35579	MYH9_HUMAN	S	610;746	ENSP00000216181:A746S	ENSP00000216181:A746S	A	-	1	0	MYH9	35030141	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	3.834000	0.55798	2.495000	0.84180	0.655000	0.94253	GCC		0.602	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		13	22	1	0	6.31663e-08	1	6.64488e-08	13	22					A	36700195	C	A	36700195	3	1	435	1	0	0	0	0	1	0	0	0	10042	797	28	5	3738	5	MYH9	22	36700195	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15739	36700195	14604371	8921	29846											
MYH9	4627	broad.mit.edu	37	chr22	36710262	36710262	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttccactcgatgccctcGcgctggtactcctcctgctc	5	11	8	17	3	0	0	0	0	0	0	6	1	3	0	4	1	3	4	4	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36710262G>A	ENST00000216181.5	-	13	1712	c.1482C>T	c.(1480-1482)cgC>cgT	p.R494R	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	494	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			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						CGATGCCCTCGCGCTGGTACT	0.537			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				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						c.(1480-1482)cgC>cgT		myosin, heavy chain 9, non-muscle							208	156	173					22																	36710262		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	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	g.chr22:36710262G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1482C>T	22.37:g.36710262G>A							p.R494R	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			13	1712	-			494			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.1482C>T	CCDS13927.1																																																																																				0.537	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		30	35	0	0	0	1	0	30	35					A	36710262	G	A	36710262	2	1	435	1	0	0	0	0	0	0	0	1	10042	1074	38	1		1	MYH9	22	36710262	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10067	36710262	14594304	8922	29847											
MYH9	4627	broad.mit.edu	37	chr22	36714303	36714303	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtcccaccttgatgcgCggggtgaggattcctctggt	4	11	13	13	3	1	2	0	2	1	0	4	3	4	3	4	4	1	0	4	4	0	2	rs143316848	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36714303C>T	ENST00000216181.5	-	11	1406	c.1176G>A	c.(1174-1176)ccG>ccA	p.P392P	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	392	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			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						CCTTGATGCGCGGGGTGAGGA	0.537			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				C|||	2	0.000399361	0	0	5008	,	,		20527	0.002		0	False		,,,				2504	0					ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				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						c.(1174-1176)ccG>ccA		myosin, heavy chain 9, non-muscle		C		16,4390	23.3+/-48.9	0,16,2187	202	195	197		1176	-8.9	0.9	22	dbSNP_134	197	0,8600		0,0,4300	no	coding-synonymous	MYH9	NM_002473.4		0,16,6487	TT,TC,CC		0.0,0.3631,0.123		392/1961	36714303	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	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	g.chr22:36714303C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1176G>A	22.37:g.36714303C>T							p.P392P	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			11	1406	-			392			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.1176G>A	CCDS13927.1																																																																																				0.537	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		6	165	0	0	0	1	0	6	165					T	36714303	C	T	36714303	2	4	435	1	0	0	0	0	0	0	0	1	10042	755	27	1		1	MYH9	22	36714303	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4041	36714303	14590263	8923	29848											
FOXRED2	80020	broad.mit.edu	37	chr22	36889728	36889728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacagttctccaggaagcGcctcagaggtaggatgtgcc	11	7	12	11	1	2	1	1	0	1	1	3	3	2	3	3	3	3	2	3	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36889728G>A	ENST00000397224.4	-	8	1840	c.1747C>T	c.(1747-1749)Cgc>Tgc	p.R583C	FOXRED2_ENST00000366463.3_Missense_Mutation_p.R135C|FOXRED2_ENST00000216187.6_Missense_Mutation_p.R583C|FOXRED2_ENST00000397223.4_Missense_Mutation_p.R583C	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	583					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCCAGGAAGCGCCTCAGAGGT	0.547																																						ENST00000397224.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1747-1749)Cgc>Tgc		FAD-dependent oxidoreductase domain containing 2							73	72	72					22																	36889728		2203	4300	6503	SO:0001583	missense	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36889728G>A	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1747C>T	22.37:g.36889728G>A	ENSP00000380401:p.Arg583Cys					FOXRED2_ENST00000366463.3_Missense_Mutation_p.R135C|FOXRED2_ENST00000397223.4_Missense_Mutation_p.R583C|FOXRED2_ENST00000216187.6_Missense_Mutation_p.R583C	p.R583C	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN			8	1840	-			583					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	c.1747C>T	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681647	0.88542	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000366463;ENST00000397223	T;T;T;T	0.55413	2.14;2.14;0.52;2.14	5.37	5.37	0.77165	.	0.047929	0.85682	D	0.000000	T	0.75184	0.3815	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.78679	-0.2110	10	0.87932	D	0	-31.5623	19.1715	0.93580	0.0:0.0:1.0:0.0	.	583	Q8IWF2	FXRD2_HUMAN	C	583;583;135;583	ENSP00000380401:R583C;ENSP00000216187:R583C;ENSP00000382543:R135C;ENSP00000380400:R583C	ENSP00000216187:R583C	R	-	1	0	FOXRED2	35219674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.164000	0.77533	2.541000	0.85698	0.650000	0.86243	CGC		0.547	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		18	37	0	0	0	1	0	18	37					A	36889728	G	A	36889728	3	1	435	1	0	0	0	0	1	0	0	0	6034	1087	38	1	315	1	FOXRED2	22	36889728	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	175425	36889728	14414838	8924	29849											
FOXRED2	80020	broad.mit.edu	37	chr22	36900731	36900731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcagggtccacggacaCggactcgtaaccctctgcat	8	8	10	15	3	2	0	1	0	1	0	5	2	4	2	3	3	2	2	3	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36900731C>T	ENST00000397224.4	-	3	703	c.610G>A	c.(610-612)Gtg>Atg	p.V204M	FOXRED2_ENST00000216187.6_Missense_Mutation_p.V204M|FOXRED2_ENST00000397223.4_Missense_Mutation_p.V204M	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	204					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCCACGGACACGGACTCGTAA	0.557																																						ENST00000397224.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(610-612)Gtg>Atg		FAD-dependent oxidoreductase domain containing 2							72	62	66					22																	36900731		2203	4300	6503	SO:0001583	missense	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36900731C>T	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.610G>A	22.37:g.36900731C>T	ENSP00000380401:p.Val204Met					FOXRED2_ENST00000397223.4_Missense_Mutation_p.V204M|FOXRED2_ENST00000216187.6_Missense_Mutation_p.V204M	p.V204M	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN			3	703	-			204					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	c.610G>A	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566434	0.27915	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.17854	2.25;2.25;2.25	5.6	4.59	0.56863	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.112699	0.64402	D	0.000009	T	0.18341	0.0440	L	0.49699	1.58	0.48830	D	0.999711	P	0.47034	0.889	B	0.42798	0.398	T	0.03875	-1.0996	10	0.18276	T	0.48	-22.2366	14.4585	0.67433	0.0:0.9295:0.0:0.0705	.	204	Q8IWF2	FXRD2_HUMAN	M	204	ENSP00000380401:V204M;ENSP00000216187:V204M;ENSP00000380400:V204M	ENSP00000216187:V204M	V	-	1	0	FOXRED2	35230677	0.998000	0.40836	0.871000	0.34182	0.011000	0.07611	3.686000	0.54685	1.370000	0.46153	-0.136000	0.14681	GTG		0.557	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		8	17	0	0	0	1	0	8	17					T	36900731	C	T	36900731	3	4	435	1	0	0	0	0	1	0	0	0	6034	536	19	1	1472	1	FOXRED2	22	36900731	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11003	36900731	14403835	8925	29850											
FOXRED2	80020	broad.mit.edu	37	chr22	36902184	36902184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagagttccagtcgtggcGgaggttgaactcggcgttag	8	9	16	8	4	0	2	0	1	0	1	3	4	1	3	1	4	1	3	1	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36902184G>A	ENST00000397224.4	-	2	379	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	FOXRED2_ENST00000216187.6_Missense_Mutation_p.R96C|FOXRED2_ENST00000397223.4_Missense_Mutation_p.R96C	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	96					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CAGTCGTGGCGGAGGTTGAAC	0.647																																						ENST00000397224.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(286-288)Cgc>Tgc		FAD-dependent oxidoreductase domain containing 2							146	110	122					22																	36902184		2203	4300	6503	SO:0001583	missense	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36902184G>A	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.286C>T	22.37:g.36902184G>A	ENSP00000380401:p.Arg96Cys					FOXRED2_ENST00000397223.4_Missense_Mutation_p.R96C|FOXRED2_ENST00000216187.6_Missense_Mutation_p.R96C	p.R96C	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN			2	379	-			96					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	c.286C>T	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	G	35	5.478068	0.96291	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.25085	1.82;1.82;1.82	5.04	5.04	0.67666	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.58566	0.2131	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67829	-0.5569	10	0.87932	D	0	-31.8695	16.5574	0.84490	0.0:0.0:1.0:0.0	.	96	Q8IWF2	FXRD2_HUMAN	C	96	ENSP00000380401:R96C;ENSP00000216187:R96C;ENSP00000380400:R96C	ENSP00000216187:R96C	R	-	1	0	FOXRED2	35232130	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	7.725000	0.84808	2.337000	0.79520	0.561000	0.74099	CGC		0.647	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		19	19	0	0	0	1	0	19	19					A	36902184	G	A	36902184	3	1	435	1	0	0	0	0	1	0	0	0	6034	1116	39	2	1800	2	FOXRED2	22	36902184	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1453	36902184	14402382	8926	29851											
NCF4	4689	broad.mit.edu	37	chr22	37261022	37261022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatctaccgccgctaccGccagttccatgctttgcaga	7	10	7	17	3	2	1	1	0	1	1	3	1	3	1	6	0	4	4	6	0	2	4	rs369847561		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37261022G>A	ENST00000248899.6	+	3	363	c.179G>A	c.(178-180)cGc>cAc	p.R60H	CTA-833B7.2_ENST00000431290.1_RNA|CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000397147.4_Missense_Mutation_p.R60H	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	60	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.|Phosphatidylinositol 3-phosphate binding.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	CGCCGCTACCGCCAGTTCCAT	0.602																																						ENST00000397147.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(178-180)cGc>cAc		neutrophil cytosolic factor 4, 40kDa		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	90	76	81		179,179	5.7	1	22		81	0,8600		0,0,4300	no	missense,missense	NCF4	NM_000631.4,NM_013416.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	60/340,60/349	37261022	1,13005	2203	4300	6503	SO:0001583	missense	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37261022G>A	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"neutrophil NADPH oxidase factor 4"	601488	"neutrophil cytosolic factor 4 (40kD)"			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.179G>A	22.37:g.37261022G>A	ENSP00000248899:p.Arg60His					NCF4_ENST00000248899.6_Missense_Mutation_p.R60H|CTA-833B7.2_ENST00000431290.1_RNA|CTA-833B7.2_ENST00000330602.2_RNA	p.R60H	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN			3	363	+			60			PX.		A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	ENST00000248899.6	37	c.179G>A	CCDS13934.1	.	.	.	.	.	.	.	.	.	.	G	32	5.107384	0.94292	2.27E-4	0.0	ENSG00000100365	ENST00000248899;ENST00000397147	T;T	0.45668	0.89;0.89	5.67	5.67	0.87782	Phox homologous domain (5);	0.053596	0.64402	D	0.000001	T	0.65626	0.2709	M	0.70275	2.135	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.982	T	0.66646	-0.5871	10	0.62326	D	0.03	-25.8801	18.5343	0.91004	0.0:0.0:1.0:0.0	.	60;60	A8K4F9;Q15080	.;NCF4_HUMAN	H	60	ENSP00000248899:R60H;ENSP00000380334:R60H	ENSP00000248899:R60H	R	+	2	0	NCF4	35590968	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.375000	0.90135	2.666000	0.90696	0.561000	0.74099	CGC		0.602	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		31	45	0	0	0	1	0	31	45					A	37261022	G	A	37261022	3	1	435	1	0	0	0	0	1	0	0	0	10218	1087	38	1	189	1	NCF4	22	37261022	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	358838	37261022	14043544	8927	29852											
CSF2RB	1439	broad.mit.edu	37	chr22	37322029	37322029	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccgtgtcctctcccaacagGgacctcctggagccagtgtc	6	8	11	16	1	1	0	0	0	1	0	5	2	3	2	6	2	2	0	6	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37322029G>A	ENST00000403662.3	+	4	423	c.201G>A	c.(199-201)gaG>gaA	p.E67E	CSF2RB_ENST00000262825.5_Splice_Site_p.E67E|CSF2RB_ENST00000406230.1_Splice_Site_p.E67E|CSF2RB_ENST00000536485.1_Splice_Site_p.R8R			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	67					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.E67E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CTCCCAACAGGGACCTCCTGG	0.597																																						ENST00000262825.5																			1	Substitution - coding silent(1)	p.E67E(1)	lung(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.e4-1		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						99	76	84					22																	37322029		2203	4300	6503	SO:0001630	splice_region_variant	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37322029G>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.201-1G>A	22.37:g.37322029G>A						CSF2RB_ENST00000403662.3_Splice_Site_p.E67_splice|CSF2RB_ENST00000406230.1_Splice_Site_p.E67_splice|CSF2RB_ENST00000536485.1_Splice_Site_p.R8_splice	p.E67_splice	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			4	418	+			67					Q5JZI1|Q6ICE0	Splice_Site	SNP	ENST00000403662.3	37	c.200_splice	CCDS13936.1																																																																																				0.597	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395	Silent	6	11	0	0	0	1	0	6	11					A	37322029	G	A	37322029	5	1	435	1	0	0	0	0	0	0	1	0	3935	1246	43	3	211	3	CSF2RB	22	37322029	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	61007	37322029	13982537	8928	29853											
TST	7263	broad.mit.edu	37	chr22	37407119	37407119	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggctctctgggggggcccgGcgaaaccactcggaccagga	7	4	16	14	4	1	0	0	0	1	0	3	3	1	2	3	7	1	1	3	7	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37407119G>T	ENST00000403892.3	-	2	1577	c.843C>A	c.(841-843)cgC>cgA	p.R281R	TST_ENST00000249042.3_Silent_p.R281R|Y_RNA_ENST00000516603.1_RNA	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	281	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GGGGGGCCCGGCGAAACCACT	0.642																																						ENST00000403892.3																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(841-843)cgC>cgA		thiosulfate sulfurtransferase (rhodanese)							51	55	53					22																	37407119		2202	4300	6502	SO:0001819	synonymous_variant	7263				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity	g.chr22:37407119G>T	Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.843C>A	22.37:g.37407119G>T						TST_ENST00000249042.3_Silent_p.R281R	p.R281R	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN			2	1577	-			281			Rhodanese 2.		B3KRM1|Q6IB06	Silent	SNP	ENST00000403892.3	37	c.843C>A	CCDS13938.1																																																																																				0.642	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318790.1			18	28	1	0	6.49762e-13	1	7.04361e-13	18	28					T	37407119	G	T	37407119	2	4	435	1	0	0	0	0	0	0	0	1	16670	1190	42	5		5	TST	22	37407119	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	85090	37407119	13897447	8929	29854											
MPST	4357	broad.mit.edu	37	chr22	37420591	37420591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctctactccgccccgcGcgtctggtggatgttccgcg	2	9	14	16	6	2	0	0	0	2	0	4	1	4	1	5	3	1	1	5	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37420591G>A	ENST00000397225.2	+	2	1250	c.335G>A	c.(334-336)cGc>cAc	p.R112H	MPST_ENST00000429360.2_Missense_Mutation_p.R112H|MPST_ENST00000397129.1_Missense_Mutation_p.R132H|MPST_ENST00000404802.3_Missense_Mutation_p.R112H|MPST_ENST00000404393.1_Missense_Mutation_p.R112H|MPST_ENST00000401419.3_Missense_Mutation_p.R112H|MPST_ENST00000341116.3_Missense_Mutation_p.R112H			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	112	Rhodanese 1. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cyanate catabolic process (GO:0009440)|hydrogen sulfide biosynthetic process (GO:0070814)|response to toxic substance (GO:0009636)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|neuron projection (GO:0043005)|synapse (GO:0045202)	3-mercaptopyruvate sulfurtransferase activity (GO:0016784)|thiosulfate sulfurtransferase activity (GO:0004792)			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						TCCGCCCCGCGCGTCTGGTGG	0.716																																						ENST00000397225.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						c.(334-336)cGc>cAc		mercaptopyruvate sulfurtransferase							9	8	9					22																	37420591		2172	4256	6428	SO:0001583	missense	4357				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity	g.chr22:37420591G>A	X59434	CCDS13939.1	22q13.1	2010-04-27			ENSG00000128309	ENSG00000128309	2.8.1.2		7223	protein-coding gene	gene with protein product	"human liver rhodanese"	602496				1953758	Standard	NM_021126		Approved	MST, TST2	uc011amu.3	P25325	OTTHUMG00000150543	ENST00000397225.2:c.335G>A	22.37:g.37420591G>A	ENSP00000380402:p.Arg112His					MPST_ENST00000401419.3_Missense_Mutation_p.R112H|MPST_ENST00000341116.3_Missense_Mutation_p.R112H|MPST_ENST00000404802.3_Missense_Mutation_p.R112H|MPST_ENST00000429360.2_Missense_Mutation_p.R112H|MPST_ENST00000397129.1_Missense_Mutation_p.R132H|MPST_ENST00000404393.1_Missense_Mutation_p.R112H	p.R112H			P25325	THTM_HUMAN			2	1250	+			112			Rhodanese 1.		A8MZ34|B3KP52|J3KPV7|O75750|Q6FHN9	Missense_Mutation	SNP	ENST00000397225.2	37	c.335G>A	CCDS13939.1	.	.	.	.	.	.	.	.	.	.	G	36	5.757010	0.96898	.	.	ENSG00000128309	ENST00000401419;ENST00000397129;ENST00000404802;ENST00000341116;ENST00000429360;ENST00000404393;ENST00000397225;ENST00000446076	T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.67	5.67	0.87782	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.80341	0.4605	H	0.96111	3.77	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.86215	0.1627	10	0.87932	D	0	-16.1129	19.7782	0.96405	0.0:0.0:1.0:0.0	.	112;112;112;112;132	Q6FHN9;B3KP52;B1AH49;P25325;Q59HD5	.;.;.;THTM_HUMAN;.	H	112;132;112;112;112;112;112;112	ENSP00000384812:R112H;ENSP00000380318:R132H;ENSP00000383950:R112H;ENSP00000342333:R112H;ENSP00000411719:R112H;ENSP00000385062:R112H;ENSP00000380402:R112H	ENSP00000342333:R112H	R	+	2	0	MPST	35750537	1.000000	0.71417	0.543000	0.28128	0.994000	0.84299	9.457000	0.97630	2.667000	0.90743	0.561000	0.74099	CGC		0.716	MPST-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318832.1	NM_001013440		4	7	0	0	0	1	0	4	7					A	37420591	G	A	37420591	3	1	435	1	0	0	0	0	1	0	0	0	9744	1087	38	1	401	1	MPST	22	37420591	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13472	37420591	13883975	8930	29855											
TMPRSS6	164656	broad.mit.edu	37	chr22	37462223	37462223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccagctgaccagccccGccaggaaccagcggccactg	8	2	12	19	2	0	1	0	1	0	0	0	2	0	2	8	3	4	1	8	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37462223G>A	ENST00000346753.3	-	18	2449	c.2333C>T	c.(2332-2334)gCg>gTg	p.A778V	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A791V|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.A791V|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A769V	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	778	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GACCAGCCCCGCCAGGAACCA	0.627																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(2371-2373)gCg>gTg		transmembrane protease, serine 6							28	29	29					22																	37462223		2203	4299	6502	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37462223G>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.2333C>T	22.37:g.37462223G>A	ENSP00000334962:p.Ala778Val					TMPRSS6_ENST00000346753.3_Missense_Mutation_p.A778V|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A769V|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A791V	p.A791V			Q8IU80	TMPS6_HUMAN			19	2512	-			778			Peptidase S1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.2372C>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411238	0.83340	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	4.46	3.44	0.39384	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.144445	0.44902	D	0.000416	D	0.83510	0.5270	N	0.02830	-0.485	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86311	0.1686	10	0.59425	D	0.04	.	12.6058	0.56523	0.082:0.0:0.918:0.0	.	791;778	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	V	791;778;769;791	ENSP00000371211:A791V;ENSP00000334962:A778V;ENSP00000385453:A769V;ENSP00000384964:A791V	ENSP00000334962:A778V	A	-	2	0	TMPRSS6	35792169	1.000000	0.71417	0.780000	0.31762	0.848000	0.48234	7.846000	0.86887	0.992000	0.38840	0.467000	0.42956	GCG		0.627	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		12	11	0	0	0	1	0	12	11					A	37462223	G	A	37462223	3	1	435	1	0	0	0	0	1	0	0	0	16248	1087	38	1	106	1	TMPRSS6	22	37462223	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	41632	37462223	13842343	8931	29856											
TMPRSS6	164656	broad.mit.edu	37	chr22	37494485	37494485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctttggcggtttcactgcGgaaggcactagattcccggc	6	10	14	11	3	1	1	1	0	0	1	2	2	2	2	1	6	1	3	1	6	2	4	rs113803353	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37494485G>A	ENST00000346753.3	-	3	450	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R103C|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R103C|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.R103C|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.R112C	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	112	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GTTTCACTGCGGAAGGCACTA	0.567													G|||	13	0.00259585	0.0091	0.0014	5008	,	,		19479	0		0	False		,,,				2504	0					ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(307-309)Cgc>Tgc		transmembrane protease, serine 6		G	CYS/ARG	23,4383	32.6+/-62.9	0,23,2180	304	303	303		334	5	1	22	dbSNP_132	303	0,8600		0,0,4300	yes	missense	TMPRSS6	NM_153609.2	180	0,23,6480	AA,AG,GG		0.0,0.522,0.1768	probably-damaging	112/812	37494485	23,12983	2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37494485G>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.334C>T	22.37:g.37494485G>A	ENSP00000334962:p.Arg112Cys					TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R112C|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.R112C|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R103C|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R103C	p.R103C			Q8IU80	TMPS6_HUMAN			3	447	-			112					B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.307C>T	CCDS13941.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	15.99	2.994738	0.54041	0.00522	0.0	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	4.97	4.97	0.65823	SEA (1);	0.145105	0.46758	D	0.000262	T	0.36608	0.0973	L	0.27053	0.805	0.46167	D	0.998906	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.67725	0.953;0.917;0.926	T	0.24083	-1.0170	10	0.35671	T	0.21	.	8.0365	0.30495	0.1472:0.0:0.8528:0.0	.	112;103;112	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	C	103;112;103;103;112;103	ENSP00000371211:R103C;ENSP00000334962:R112C;ENSP00000385453:R103C;ENSP00000384964:R103C;ENSP00000397691:R112C;ENSP00000400317:R103C	ENSP00000334962:R112C	R	-	1	0	TMPRSS6	35824431	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	3.226000	0.51254	2.293000	0.77203	0.561000	0.74099	CGC		0.567	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		98	137	0	0	0	1	0	98	137					A	37494485	G	A	37494485	3	1	435	1	0	0	0	0	1	0	0	0	16248	1116	39	2	2165	2	TMPRSS6	22	37494485	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32262	37494485	13810081	8932	29857											
IL2RB	3560	broad.mit.edu	37	chr22	37524280	37524280	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaactgactccctccctgggGccagcgtcagggacctcctc	7	7	10	17	1	1	1	1	1	0	0	5	2	4	2	5	3	2	0	5	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37524280G>A	ENST00000216223.5	-	10	1710	c.1512C>T	c.(1510-1512)ggC>ggT	p.G504G		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	504					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CCTCCCTGGGGCCAGCGTCAG	0.662																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(1510-1512)ggC>ggT		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						28	30	29					22																	37524280		2203	4299	6502	SO:0001819	synonymous_variant	0				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	g.chr22:37524280G>A	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"Interleukins and interleukin receptors", "CD molecules"	6009	protein-coding gene	gene with protein product		146710	"interleukin 15 receptor, beta"	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1512C>T	22.37:g.37524280G>A							p.G504G	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN			10	1710	-			504					B2R765	Silent	SNP	ENST00000216223.5	37	c.1512C>T	CCDS13942.1																																																																																				0.662	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			17	16	0	0	0	1	0	17	16					A	37524280	G	A	37524280	2	1	435	1	0	0	0	0	0	0	0	1	7687	1190	42	3		3	IL2RB	22	37524280	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29795	37524280	13780286	8933	29858											
IL2RB	3560	broad.mit.edu	37	chr22	37539572	37539572	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggactcaccgtctgtccggCcaggcatggacttggcagga	7	8	14	12	2	2	0	1	0	1	0	3	3	3	3	3	6	0	2	3	6	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37539572C>T	ENST00000216223.5	-	3	390	c.192G>A	c.(190-192)tgG>tgA	p.W64*		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	64					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GTCTGTCCGGCCAGGCATGGA	0.537																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(190-192)tgG>tgA		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						70	61	64					22																	37539572		2203	4300	6503	SO:0001587	stop_gained	0				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	g.chr22:37539572C>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"Interleukins and interleukin receptors", "CD molecules"	6009	protein-coding gene	gene with protein product		146710	"interleukin 15 receptor, beta"	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.192G>A	22.37:g.37539572C>T	ENSP00000216223:p.Trp64*						p.W64*	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN			3	390	-			64					B2R765	Nonsense_Mutation	SNP	ENST00000216223.5	37	c.192G>A	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826439	0.90955	.	.	ENSG00000100385	ENST00000216223;ENST00000453962;ENST00000429622;ENST00000445595	.	.	.	4.75	-0.067	0.13762	.	2.577270	0.01336	N	0.011389	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-1.4908	3.4025	0.07328	0.1756:0.4912:0.0:0.3332	.	.	.	.	X	64	.	ENSP00000216223:W64X	W	-	3	0	IL2RB	35869518	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.158000	0.10070	-0.141000	0.11374	-0.254000	0.11334	TGG		0.537	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			8	13	0	0	0	1	0	8	13					T	37539572	C	T	37539572	4	4	435	1	0	0	0	0	0	1	0	0	7687	740	26	3	1495	3	IL2RB	22	37539572	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15292	37539572	13764994	8934	29859											
C1QTNF6	114904	broad.mit.edu	37	chr22	37578308	37578308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtagatggcgttctcgcGctggcgcttgaagagccgca	6	9	15	11	5	1	3	0	1	1	2	2	3	1	3	1	2	1	6	1	2	2	3	rs201178136		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37578308G>A	ENST00000337843.2	-	3	832	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	C1QTNF6_ENST00000255836.6_Missense_Mutation_p.R129C|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.R253C|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_5'UTR	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	234	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						GCGTTCTCGCGCTGGCGCTTG	0.647																																						ENST00000337843.2																			0				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(757-759)Cgc>Tgc		C1q and tumor necrosis factor related protein 6							77	67	71					22																	37578308		2203	4300	6503	SO:0001583	missense	114904					collagen		g.chr22:37578308G>A	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.757C>T	22.37:g.37578308G>A	ENSP00000338812:p.Arg253Cys					C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000255836.6_Missense_Mutation_p.R129C|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.R253C	p.R253C	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN			3	832	-			234			C1q.		Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	ENST00000337843.2	37	c.757C>T	CCDS13943.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201268	0.58234	.	.	ENSG00000133466	ENST00000397110;ENST00000337843;ENST00000255836	T;T;T	0.24350	1.86;1.86;1.86	4.94	4.94	0.65067	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.71151	-0.4676	10	0.87932	D	0	.	13.1847	0.59673	0.0:0.0:0.8406:0.1594	.	253;234	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	C	253;253;129	ENSP00000380299:R253C;ENSP00000338812:R253C;ENSP00000255836:R129C	ENSP00000255836:R129C	R	-	1	0	C1QTNF6	35908254	1.000000	0.71417	0.993000	0.49108	0.472000	0.32918	3.846000	0.55888	2.286000	0.76751	0.561000	0.74099	CGC		0.647	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486		4	10	0	0	0	1	0	4	10					A	37578308	G	A	37578308	3	1	435	1	0	0	0	0	1	0	0	0	1967	1087	38	1	83	1	C1QTNF6	22	37578308	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38736	37578308	13726258	8935	29860											
CYTH4	27128	broad.mit.edu	37	chr22	37692065	37692065	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcccagaaggagaaggagCtgtgtattgggcgcaagaag	12	6	17	6	1	0	3	0	0	0	3	0	5	0	4	1	4	1	3	1	4	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37692065C>A	ENST00000248901.6	+	4	380	c.193C>A	c.(193-195)Ctg>Atg	p.L65M	CYTH4_ENST00000402997.1_Missense_Mutation_p.L65M|CYTH4_ENST00000405206.3_Missense_Mutation_p.L65M|CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	65	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GGAGAAGGAGCTGTGTATTGG	0.637																																						ENST00000248901.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						c.(193-195)Ctg>Atg		cytohesin 4							128	90	103					22																	37692065		2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37692065C>A	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"Pleckstrin homology (PH) domain containing"	9505	protein-coding gene	gene with protein product		606514	"pleckstrin homology, Sec7 and coiled/coil domains 4", "pleckstrin homology, Sec7 and coiled-coil domains 4"	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.193C>A	22.37:g.37692065C>A	ENSP00000248901:p.Leu65Met					CYTH4_ENST00000402997.1_Missense_Mutation_p.L65M|CYTH4_ENST00000405206.3_Missense_Mutation_p.L65M|CYTH4_ENST00000439667.1_3'UTR	p.L65M	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN			4	380	+			65			SEC7.		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.193C>A	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	C	1.917	-0.449322	0.04572	.	.	ENSG00000100055	ENST00000457992;ENST00000248901;ENST00000422721;ENST00000402997;ENST00000405206	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.06	2.89	0.33648	SEC7-like (4);	0.199152	0.44483	N	0.000442	T	0.30039	0.0752	N	0.25144	0.715	0.80722	D	1	B;B	0.28026	0.003;0.198	B;B	0.28305	0.032;0.088	T	0.04294	-1.0962	10	0.11182	T	0.66	.	4.4079	0.11418	0.187:0.6236:0.0:0.1894	.	65;78	Q9UIA0;Q9H7Q0	CYH4_HUMAN;.	M	65;65;78;65;65	ENSP00000405442:L65M;ENSP00000248901:L65M;ENSP00000385997:L65M;ENSP00000384280:L65M	ENSP00000248901:L65M	L	+	1	2	CYTH4	36022011	0.000000	0.05858	0.926000	0.36857	0.446000	0.32137	-0.642000	0.05427	0.469000	0.27268	0.563000	0.77884	CTG		0.637	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			6	16	1	0	5.9392e-07	1	6.20451e-07	6	16					A	37692065	C	A	37692065	3	1	435	1	0	0	0	0	1	0	0	0	4206	796	28	5	207	5	CYTH4	22	37692065	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	113757	37692065	13612501	8936	29861											
CYTH4	27128	broad.mit.edu	37	chr22	37692101	37692101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagttcaacatggaccccGccaaggtaggtggctgtgga	11	7	14	9	1	1	1	1	0	0	1	1	3	1	3	3	5	1	3	3	5	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37692101G>A	ENST00000248901.6	+	4	416	c.229G>A	c.(229-231)Gcc>Acc	p.A77T	CYTH4_ENST00000402997.1_Missense_Mutation_p.A77T|CYTH4_ENST00000405206.3_Missense_Mutation_p.A77T|CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	77	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CATGGACCCCGCCAAGGTAGG	0.657																																						ENST00000248901.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						c.(229-231)Gcc>Acc		cytohesin 4							105	72	83					22																	37692101		2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37692101G>A	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"Pleckstrin homology (PH) domain containing"	9505	protein-coding gene	gene with protein product		606514	"pleckstrin homology, Sec7 and coiled/coil domains 4", "pleckstrin homology, Sec7 and coiled-coil domains 4"	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.229G>A	22.37:g.37692101G>A	ENSP00000248901:p.Ala77Thr					CYTH4_ENST00000402997.1_Missense_Mutation_p.A77T|CYTH4_ENST00000405206.3_Missense_Mutation_p.A77T|CYTH4_ENST00000439667.1_3'UTR	p.A77T	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN			4	416	+			77			SEC7.		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.229G>A	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564080	0.45694	.	.	ENSG00000100055	ENST00000457992;ENST00000248901;ENST00000422721;ENST00000402997;ENST00000405206	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.06	-3.9	0.04181	SEC7-like (4);	1.013500	0.07889	N	0.970851	T	0.37433	0.1003	N	0.25380	0.74	0.09310	N	1	B;B	0.24721	0.0;0.11	B;B	0.22753	0.006;0.041	T	0.39375	-0.9617	10	0.62326	D	0.03	.	11.1291	0.48336	0.6453:0.0:0.3547:0.0	.	77;90	Q9UIA0;Q9H7Q0	CYH4_HUMAN;.	T	77;77;90;77;77	ENSP00000405442:A77T;ENSP00000248901:A77T;ENSP00000385997:A77T;ENSP00000384280:A77T	ENSP00000248901:A77T	A	+	1	0	CYTH4	36022047	0.000000	0.05858	0.001000	0.08648	0.093000	0.18481	0.037000	0.13840	-0.500000	0.06614	-0.251000	0.11542	GCC		0.657	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			5	17	0	0	0	1	0	5	17					A	37692101	G	A	37692101	3	1	435	1	0	0	0	0	1	0	0	0	4206	1087	38	1	243	1	CYTH4	22	37692101	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	36	37692101	13612465	8937	29862											
ELFN2	114794	broad.mit.edu	37	chr22	37771287	37771287	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggcccaggaaggcaccGtcctcgatgtaggagatctc	9	7	13	12	2	1	1	0	0	1	1	4	5	2	2	3	4	0	2	3	4	2	1	rs550178745		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37771287G>A	ENST00000402918.2	-	3	1073	c.288C>T	c.(286-288)gaC>gaT	p.D96D	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	96					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GGAAGGCACCGTCCTCGATGT	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		18321	0		0	False		,,,				2504	0					ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(286-288)gaC>gaT		extracellular leucine-rich repeat and fibronectin type III domain containing 2							153	148	150					22																	37771287		2203	4300	6503	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37771287G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.288C>T	22.37:g.37771287G>A						ELFN2_ENST00000349653.3_Silent_p.D96D|RP1-63G5.5_ENST00000430883.1_RNA	p.D96D	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	1073	-	Melanoma(58;0.0574)		96					Q96PY3	Silent	SNP	ENST00000402918.2	37	c.288C>T	CCDS33642.1																																																																																				0.602	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		14	27	0	0	0	1	0	14	27					A	37771287	G	A	37771287	2	1	435	1	0	0	0	0	0	0	0	1	5058	1136	40	1		1	ELFN2	22	37771287	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	79186	37771287	13533279	8938	29863											
MFNG	4242	broad.mit.edu	37	chr22	37876261	37876261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactggccaagaaggtgtcGaactcagcagccatcttgca	11	7	10	13	1	2	1	1	0	1	1	3	2	2	1	3	2	4	2	3	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37876261G>A	ENST00000356998.3	-	3	604	c.381C>T	c.(379-381)ttC>ttT	p.F127F	MFNG_ENST00000416983.3_Silent_p.F113F	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	127					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)	p.F127F(1)		large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					AGAAGGTGTCGAACTCAGCAG	0.597																																						ENST00000356998.3																			1	Substitution - coding silent(1)	p.F127F(1)	large_intestine(1)	large_intestine(2)|lung(2)|skin(1)	5						c.(379-381)ttC>ttT		MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							102	83	90					22																	37876261		2203	4300	6503	SO:0001819	synonymous_variant	4242				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr22:37876261G>A	BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"Beta 3-glycosyltransferases"	7038	protein-coding gene	gene with protein product		602577	"manic fringe (Drosophila) homolog", "manic fringe homolog (Drosophila)"			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.381C>T	22.37:g.37876261G>A						MFNG_ENST00000416983.3_Silent_p.F113F	p.F127F	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN			3	604	-	Melanoma(58;0.0574)		127					B4DLT6|O43730|Q504S9	Silent	SNP	ENST00000356998.3	37	c.381C>T	CCDS13947.1																																																																																				0.597	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405		8	17	0	0	0	1	0	8	17					A	37876261	G	A	37876261	2	1	435	1	0	0	0	0	0	0	0	1	9525	1049	37	2		2	MFNG	22	37876261	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	104974	37876261	13428305	8939	29864											
NOL12	79159	broad.mit.edu	37	chr22	38084897	38084897	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggttggtgacagcaaagacGgagtcggtgcagtatgacca	11	7	15	8	3	0	3	0	2	0	1	1	4	0	4	1	4	2	4	1	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38084897G>A	ENST00000359114.4	+	4	349	c.279G>A	c.(277-279)acG>acA	p.T93T	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	93						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)	p.T93T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CAGCAAAGACGGAGTCGGTGC	0.637																																						ENST00000359114.4																			1	Substitution - coding silent(1)	p.T93T(1)	endometrium(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8						c.(277-279)acG>acA		nucleolar protein 12							192	162	172					22																	38084897		2203	4300	6503	SO:0001819	synonymous_variant	79159					nucleolus	rRNA binding	g.chr22:38084897G>A	Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.279G>A	22.37:g.38084897G>A						RP1-37E16.12_ENST00000455236.1_RNA|NOL12_ENST00000493862.1_3'UTR	p.T93T	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN			4	349	+	Melanoma(58;0.0574)		93						Silent	SNP	ENST00000359114.4	37	c.279G>A	CCDS13955.1																																																																																				0.637	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319476.1	NM_024313		35	49	0	0	0	1	0	35	49					A	38084897	G	A	38084897	2	1	435	1	0	0	0	0	0	0	0	1	10522	1103	39	2		2	NOL12	22	38084897	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	208636	38084897	13219669	8940	29865											
TRIOBP	11078	broad.mit.edu	37	chr22	38119611	38119611	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctccctcacgaagcaccCaactggataaccccagaacc	12	5	5	19	1	2	1	1	0	1	1	3	3	2	2	6	1	4	1	6	1	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38119611C>T	ENST00000406386.3	+	7	1303	c.1048C>T	c.(1048-1050)Caa>Taa	p.Q350*		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	350					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			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)					ACGAAGCACCCAACTGGATAA	0.577																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1048-1050)Caa>Taa		TRIO and F-actin binding protein							132	146	141					22																	38119611		1910	4113	6023	SO:0001587	stop_gained	11078				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	g.chr22:38119611C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1048C>T	22.37:g.38119611C>T	ENSP00000384312:p.Gln350*					RP1-37E16.12_ENST00000455236.1_RNA	p.Q350*	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1303	+	Melanoma(58;0.0574)		350					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Nonsense_Mutation	SNP	ENST00000406386.3	37	c.1048C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012512	0.93346	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	.	.	.	4.83	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.29058	N	0.884102	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	10.7915	0.46436	0.0:0.9058:0.0:0.0942	.	.	.	.	X	350	.	ENSP00000384312:Q350X	Q	+	1	0	TRIOBP	36449557	0.150000	0.22732	0.004000	0.12327	0.029000	0.11900	2.839000	0.48207	1.047000	0.40274	0.456000	0.33151	CAA		0.577	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			21	81	0	0	0	1	0	21	81					T	38119611	C	T	38119611	4	4	435	1	0	0	0	0	0	1	0	0	16550	595	21	3	1066	3	TRIOBP	22	38119611	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	34714	38119611	13184955	8941	29866											
TRIOBP	11078	broad.mit.edu	37	chr22	38119905	38119905	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcccagtagagctacaCgagacaaccccacaacatcc	13	5	5	18	1	1	2	0	0	1	2	3	3	2	2	5	0	4	2	5	0	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38119905C>T	ENST00000406386.3	+	7	1597	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	448					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			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)					TAGAGCTACACGAGACAACCC	0.587																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1342-1344)Cga>Tga		TRIO and F-actin binding protein							56	59	58					22																	38119905		1863	4091	5954	SO:0001587	stop_gained	11078				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	g.chr22:38119905C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1342C>T	22.37:g.38119905C>T	ENSP00000384312:p.Arg448*					RP1-37E16.12_ENST00000455236.1_RNA	p.R448*	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1597	+	Melanoma(58;0.0574)		448					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Nonsense_Mutation	SNP	ENST00000406386.3	37	c.1342C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225146	0.79576	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	.	.	.	2.05	0.865	0.19074	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	5.6154	0.17428	0.3218:0.6782:0.0:0.0	.	.	.	.	X	448	.	ENSP00000384312:R448X	R	+	1	2	TRIOBP	36449851	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-2.262000	0.01175	0.165000	0.19558	0.121000	0.15741	CGA		0.587	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			15	29	0	0	0	1	0	15	29					T	38119905	C	T	38119905	4	4	435	1	0	0	0	0	0	1	0	0	16550	528	19	1	1360	1	TRIOBP	22	38119905	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	294	38119905	13184661	8942	29867											
TRIOBP	11078	broad.mit.edu	37	chr22	38131003	38131003	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgcgtggctctgagaggCgacccgagcttgactggagg	7	6	16	12	4	1	2	0	2	1	1	1	6	1	3	2	4	1	2	2	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38131003C>T	ENST00000406386.3	+	9	4915	c.4660C>T	c.(4660-4662)Cga>Tga	p.R1554*		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1554					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			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)					CTCTGAGAGGCGACCCGAGCT	0.677											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(4660-4662)Cga>Tga		TRIO and F-actin binding protein							54	63	60					22																	38131003		2031	4174	6205	SO:0001587	stop_gained	11078				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	g.chr22:38131003C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4660C>T	22.37:g.38131003C>T	ENSP00000384312:p.Arg1554*		OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	RP1-37E16.12_ENST00000455236.1_RNA	p.R1554*	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			9	4915	+	Melanoma(58;0.0574)		1554					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Nonsense_Mutation	SNP	ENST00000406386.3	37	c.4660C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	44	11.214685	0.99531	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	.	.	.	5.75	3.5	0.40072	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999984	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0237	0.53358	0.0:0.6649:0.3351:0.0	.	.	.	.	X	1554;1515	.	ENSP00000384312:R1554X	R	+	1	2	TRIOBP	36460949	0.000000	0.05858	0.015000	0.15790	0.097000	0.18754	0.015000	0.13355	1.384000	0.46424	0.563000	0.77884	CGA		0.677	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			11	43	0	0	0	1	0	11	43					T	38131003	C	T	38131003	4	4	435	1	0	0	0	0	0	1	0	0	16550	760	27	1	4686	1	TRIOBP	22	38131003	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11098	38131003	13173563	8943	29868											
TRIOBP	11078	broad.mit.edu	37	chr22	38165309	38165309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagatagaccagctgcGcggcttcattgcctcgcagg	9	7	14	11	3	1	3	1	0	0	3	2	4	1	3	2	3	3	3	2	3	1	3	rs554837585		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38165309G>A	ENST00000406386.3	+	21	7031	c.6776G>A	c.(6775-6777)cGc>cAc	p.R2259H	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R546H	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2259					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			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)					GACCAGCTGCGCGGCTTCATT	0.667													.|||	1	0.000199681	0	0.0014	5008	,	,		19550	0		0	False		,,,				2504	0					ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(6775-6777)cGc>cAc		TRIO and F-actin binding protein							16	19	18					22																	38165309		2000	4160	6160	SO:0001583	missense	11078				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	g.chr22:38165309G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6776G>A	22.37:g.38165309G>A	ENSP00000384312:p.Arg2259His					TRIOBP_ENST00000403663.2_Missense_Mutation_p.R546H|RP1-37E16.12_ENST00000455236.1_RNA	p.R2259H	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			21	7031	+	Melanoma(58;0.0574)		2259					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.6776G>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703521	0.68501	.	.	ENSG00000100106	ENST00000406386;ENST00000403663	T;T	0.26373	1.74;1.96	4.96	3.94	0.45596	.	.	.	.	.	T	0.42562	0.1208	L	0.47716	1.5	0.47476	D	0.999435	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.996;0.991	T	0.33828	-0.9853	9	0.87932	D	0	.	12.6912	0.56976	0.08:0.0:0.92:0.0	.	2161;248;546;2259	Q9H2D6-2;Q8TCM3;F8W6V6;Q9H2D6	.;.;.;TARA_HUMAN	H	2259;546	ENSP00000384312:R2259H;ENSP00000386026:R546H	ENSP00000386026:R546H	R	+	2	0	TRIOBP	36495255	1.000000	0.71417	0.976000	0.42696	0.214000	0.24535	5.017000	0.64047	2.320000	0.78422	0.462000	0.41574	CGC		0.667	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	8	0	0	0	1	0	7	8					A	38165309	G	A	38165309	3	1	435	1	0	0	0	0	1	0	0	0	16550	1087	38	1	7152	1	TRIOBP	22	38165309	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	34306	38165309	13139257	8944	29869											
MICALL1	85377	broad.mit.edu	37	chr22	38318135	38318135	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccaaagcagcagcaccaGcagcaactcgcagaagatgc	15	2	10	14	1	0	2	0	0	0	2	1	2	0	2	2	0	8	6	2	0	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38318135G>A	ENST00000215957.6	+	6	852	c.726G>A	c.(724-726)caG>caA	p.Q242Q		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	242					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGCAGCACCAGCAGCAACTCG	0.662																																						ENST00000215957.6																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(724-726)caG>caA		MICAL-like 1							32	33	33					22																	38318135		2203	4300	6503	SO:0001819	synonymous_variant	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38318135G>A	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"molecule interacting with Rab13"					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.726G>A	22.37:g.38318135G>A							p.Q242Q	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			6	852	+	Melanoma(58;0.045)		242					Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	c.726G>A	CCDS13961.1																																																																																				0.662	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		8	14	0	0	0	1	0	8	14					A	38318135	G	A	38318135	2	1	435	1	0	0	0	0	0	0	0	1	9573	962	34	3		3	MICALL1	22	38318135	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	152826	38318135	12986431	8945	29870											
MICALL1	85377	broad.mit.edu	37	chr22	38328608	38328608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggacatccatggagagatgGataccattgagcgccggctg	11	7	14	9	2	0	2	0	1	0	1	1	6	1	5	3	4	2	1	3	4	1	2	rs142424154		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38328608G>A	ENST00000215957.6	+	11	2191	c.2065G>A	c.(2065-2067)Gat>Aat	p.D689N	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	689	RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TGGAGAGATGGATACCATTGA	0.657																																						ENST00000215957.6																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(2065-2067)Gat>Aat		MICAL-like 1							62	63	62					22																	38328608		2203	4300	6503	SO:0001583	missense	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38328608G>A	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"molecule interacting with Rab13"					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2065G>A	22.37:g.38328608G>A	ENSP00000215957:p.Asp689Asn					MICALL1_ENST00000402631.1_3'UTR	p.D689N	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			11	2191	+	Melanoma(58;0.045)		689					Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	c.2065G>A	CCDS13961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.296980|4.296980	0.81025|0.81025	.|.	.|.	ENSG00000100139|ENSG00000100139	ENST00000215957;ENST00000402631;ENST00000424008|ENST00000454685	T;T;T|.	0.41065|.	1.01;1.01;1.01|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Domain of unknown function DUF3585 (1);|.	0.085202|.	0.49916|.	D|.	0.000123|.	T|T	0.55970|0.55970	0.1954|0.1954	N|N	0.21097|0.21097	0.63|0.63	0.45733|0.45733	D|D	0.998638|0.998638	D|.	0.57257|.	0.979|.	P|.	0.54759|.	0.76|.	T|T	0.50250|0.50250	-0.8850|-0.8850	10|5	0.25751|.	T|.	0.34|.	.|.	19.3396|19.3396	0.94336|0.94336	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	689|.	Q8N3F8|.	MILK1_HUMAN|.	N|E	689;116;3|264	ENSP00000215957:D689N;ENSP00000384608:D116N;ENSP00000416766:D3N|.	ENSP00000215957:D689N|.	D|G	+|+	1|2	0|0	MICALL1|MICALL1	36658554|36658554	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.911000|0.911000	0.54048|0.54048	3.593000|3.593000	0.54001|0.54001	2.572000|2.572000	0.86782|0.86782	0.491000|0.491000	0.48974|0.48974	GAT|GGA		0.657	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		20	18	0	0	0	1	0	20	18					A	38328608	G	A	38328608	3	1	435	1	0	0	0	0	1	0	0	0	9573	1174	41	3	2107	3	MICALL1	22	38328608	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10473	38328608	12975958	8946	29871											
POLR2F	5435	broad.mit.edu	37	chr22	38352843	38352843	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagatgacttggagaatgcCgaagaggtcagtattcagcc	12	9	12	8	1	2	4	2	1	0	3	2	6	2	4	2	2	2	1	2	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38352843C>T	ENST00000442738.2	+	2	209	c.84C>T	c.(82-84)gcC>gcT	p.A28A	POLR2F_ENST00000470701.1_Silent_p.A23A|POLR2F_ENST00000407936.1_Silent_p.A28A|POLR2F_ENST00000405557.1_Silent_p.A28A|POLR2F_ENST00000606538.1_Silent_p.A28A|POLR2F_ENST00000488684.1_Silent_p.A28A|POLR2F_ENST00000460648.1_Silent_p.A28A	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	28					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					TGGAGAATGCCGAAGAGGTCA	0.483																																						ENST00000442738.2																			0				breast(1)|urinary_tract(2)	3						c.(82-84)gcC>gcT		polymerase (RNA) II (DNA directed) polypeptide F							153	131	138					22																	38352843		2203	4300	6503	SO:0001819	synonymous_variant	5435				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	g.chr22:38352843C>T		CCDS13963.1	22q13.1	2013-01-21			ENSG00000100142	ENSG00000100142		"RNA polymerase subunits"	9193	protein-coding gene	gene with protein product	"DNA directed RNA polymerase II 14.4 kda polypeptide"	604414				8786150	Standard	XR_112241		Approved	RPB6, HRBP14.4	uc010gxi.3	P61218	OTTHUMG00000151160	ENST00000442738.2:c.84C>T	22.37:g.38352843C>T						POLR2F_ENST00000488684.1_Silent_p.A28A|POLR2F_ENST00000606538.1_Silent_p.A28A|POLR2F_ENST00000484894.1_3'UTR|POLR2F_ENST00000470701.1_Silent_p.A23A|POLR2F_ENST00000460648.1_Silent_p.A28A|POLR2F_ENST00000405557.1_Silent_p.A28A|POLR2F_ENST00000407936.1_Silent_p.A28A	p.A28A	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN			2	209	+	Melanoma(58;0.045)		28					P41584|Q6IAY3	Silent	SNP	ENST00000442738.2	37	c.84C>T	CCDS13963.1																																																																																				0.483	POLR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321570.1	NM_021974		19	17	0	0	0	1	0	19	17					T	38352843	C	T	38352843	2	4	435	1	0	0	0	0	0	0	0	1	12219	639	23	2		2	POLR2F	22	38352843	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	24235	38352843	12951723	8947	29872											
PLA2G6	8398	broad.mit.edu	37	chr22	38522377	38522377	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccgatctcgatccacttaCgtccgcttctcgtccctcat	5	12	5	19	5	3	0	1	0	2	0	8	2	6	0	5	0	1	1	5	0	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38522377C>T	ENST00000332509.3	-	10	1611		c.e10+1		PLA2G6_ENST00000490473.1_Splice_Site|PLA2G6_ENST00000402064.1_Splice_Site|PLA2G6_ENST00000335539.3_Splice_Site	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)						cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GATCCACTTACGTCCGCTTCT	0.622																																						ENST00000332509.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	GRCh37	CS090239	PLA2G6	S		c.e10+1		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						119	97	105					22																	38522377		2203	4300	6503	SO:0001630	splice_region_variant	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38522377C>T	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1427+1G>A	22.37:g.38522377C>T						PLA2G6_ENST00000335539.3_Splice_Site|PLA2G6_ENST00000490473.1_Splice_Site|PLA2G6_ENST00000402064.1_Splice_Site		NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			10	1611	-	Melanoma(58;0.045)							A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Splice_Site	SNP	ENST00000332509.3	37		CCDS13967.1	.	.	.	.	.	.	.	.	.	.	C	9.762	1.170313	0.21621	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5279	0.61605	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLA2G6	36852323	0.988000	0.35896	0.999000	0.59377	0.019000	0.09904	3.541000	0.53618	2.544000	0.85801	0.655000	0.94253	.		0.622	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426	Intron	12	22	0	0	0	1	0	12	22					T	38522377	C	T	38522377	5	4	435	1	0	0	0	0	0	0	1	0	12008	550	19	1	1024	1	PLA2G6	22	38522377	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	169534	38522377	12782189	8948	29873											
CSNK1E	1454	broad.mit.edu	37	chr22	38698877	38698877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggactcaccatctggtcggCcaagagcagcaccgtcttga	9	7	12	13	2	3	2	1	1	2	1	4	3	3	3	3	3	2	2	3	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38698877C>T	ENST00000396832.1	-	4	585	c.325G>A	c.(325-327)Gcc>Acc	p.A109T	CSNK1E_ENST00000403904.1_Missense_Mutation_p.A109T|CSNK1E_ENST00000359867.3_Missense_Mutation_p.A109T|CSNK1E_ENST00000400206.2_Missense_Mutation_p.A109T|CSNK1E_ENST00000405675.3_Missense_Mutation_p.A109T|CSNK1E_ENST00000498529.1_5'Flank|CSNK1E_ENST00000413574.2_Missense_Mutation_p.A109T	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	109	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					ATCTGGTCGGCCAAGAGCAGC	0.617																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	ENST00000396832.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(325-327)Gcc>Acc		casein kinase 1, epsilon							115	102	106					22																	38698877		2203	4300	6503	SO:0001583	missense	1454				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	g.chr22:38698877C>T		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.325G>A	22.37:g.38698877C>T	ENSP00000380044:p.Ala109Thr					CSNK1E_ENST00000413574.2_Missense_Mutation_p.A109T|CSNK1E_ENST00000405675.3_Missense_Mutation_p.A109T|CSNK1E_ENST00000359867.3_Missense_Mutation_p.A109T|CSNK1E_ENST00000400206.2_Missense_Mutation_p.A109T|CSNK1E_ENST00000403904.1_Missense_Mutation_p.A109T	p.A109T	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN			4	585	-	Melanoma(58;0.045)		109			Protein kinase.			Missense_Mutation	SNP	ENST00000396832.1	37	c.325G>A	CCDS13970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.418594|5.418594	0.96092|0.96092	.|.	.|.	ENSG00000213923|ENSG00000213923	ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904;ENST00000413574;ENST00000405675;ENST00000430335|ENST00000451964	T;T;T;T;T;T;T|.	0.23950|.	1.88;1.88;1.88;1.88;1.88;1.88;1.88|.	5.05|5.05	5.05|5.05	0.67936|0.67936	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.052693|.	0.85682|.	D|.	0.000000|.	D|.	0.86155|.	0.5865|.	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.986;0.999;1.0|.	P;D;D|.	0.79784|.	0.807;0.977;0.993|.	D|.	0.89717|.	0.3916|.	10|.	0.87932|.	D|.	0|.	.|.	18.0168|18.0168	0.89243|0.89243	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	109;109;109|.	B0QY35;B0QY34;P49674|.	.;.;KC1E_HUMAN|.	T|X	109|46	ENSP00000352929:A109T;ENSP00000380044:A109T;ENSP00000383067:A109T;ENSP00000384074:A109T;ENSP00000407235:A109T;ENSP00000384426:A109T;ENSP00000412335:A109T|.	ENSP00000352929:A109T|.	A|W	-|-	1|3	0|0	CSNK1E|CSNK1E	37028823|37028823	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.711000|7.711000	0.84669|0.84669	2.342000|2.342000	0.79632|0.79632	0.462000|0.462000	0.41574|0.41574	GCC|TGG		0.617	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		22	26	0	0	0	1	0	22	26					T	38698877	C	T	38698877	3	4	435	1	0	0	0	0	1	0	0	0	3953	739	26	3	953	3	CSNK1E	22	38698877	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	176500	38698877	12605689	8949	29874											
KCNJ4	3761	broad.mit.edu	37	chr22	38823608	38823608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgcccgcttcttgggcCgcgccatcttggccatgatg	3	11	12	15	4	3	1	0	1	3	0	3	1	3	1	4	2	1	1	4	2	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38823608C>T	ENST00000303592.3	-	2	788	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	177					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CTTCTTGGGCCGCGCCATCTT	0.642																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(529-531)cGg>cAg		potassium inwardly-rectifying channel, subfamily J, member 4							44	42	43					22																	38823608		2203	4300	6503	SO:0001583	missense	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823608C>T	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.530G>A	22.37:g.38823608C>T	ENSP00000306497:p.Arg177Gln						p.R177Q	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	788	-	Melanoma(58;0.0286)		177					Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	c.530G>A	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692612	0.48202	.	.	ENSG00000168135	ENST00000303592	D	0.93712	-3.27	4.94	4.94	0.65067	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.93177	0.7827	L	0.60904	1.88	0.50813	D	0.999896	D	0.63046	0.992	P	0.51324	0.666	D	0.90886	0.4757	10	0.08179	T	0.78	.	18.5997	0.91244	0.0:1.0:0.0:0.0	.	177	P48050	IRK4_HUMAN	Q	177	ENSP00000306497:R177Q	ENSP00000306497:R177Q	R	-	2	0	KCNJ4	37153554	1.000000	0.71417	0.888000	0.34837	0.770000	0.43624	6.060000	0.71141	2.472000	0.83506	0.555000	0.69702	CGG		0.642	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		11	18	0	0	0	1	0	11	18					T	38823608	C	T	38823608	3	4	435	1	0	0	0	0	1	0	0	0	8053	652	23	2	811	2	KCNJ4	22	38823608	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	124731	38823608	12480958	8950	29875											
JOSD1	9929	broad.mit.edu	37	chr22	39084972	39084972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcctccaatccactcgggCatcttgagtttggagtcgag	7	11	11	12	3	1	1	0	1	1	0	6	3	3	2	3	2	0	2	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39084972C>T	ENST00000216039.5	-	3	1156	c.477G>A	c.(475-477)atG>atA	p.M159I		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	159	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	omega peptidase activity (GO:0008242)			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					TCCACTCGGGCATCTTGAGTT	0.537																																						ENST00000216039.5																			0				large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5						c.(475-477)atG>atA		Josephin domain containing 1							127	107	114					22																	39084972		2203	4300	6503	SO:0001583	missense	9929						peptidase activity	g.chr22:39084972C>T		CCDS13976.1	22q13.1	2005-11-10			ENSG00000100221	ENSG00000100221			28953	protein-coding gene	gene with protein product		615323				7584044	Standard	NM_014876		Approved	KIAA0063	uc003awf.3	Q15040	OTTHUMG00000151030	ENST00000216039.5:c.477G>A	22.37:g.39084972C>T	ENSP00000216039:p.Met159Ile						p.M159I	NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN			3	1156	-	Melanoma(58;0.04)		159			Josephin.		A8K712	Missense_Mutation	SNP	ENST00000216039.5	37	c.477G>A	CCDS13976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.40|14.40	2.525569|2.525569	0.44969|0.44969	.|.	.|.	ENSG00000100221|ENSG00000100221	ENST00000545590|ENST00000216039	.|T	.|0.41065	.|1.01	5.64|5.64	2.28|2.28	0.28536|0.28536	.|.	.|0.531595	.|0.24089	.|N	.|0.041660	T|T	0.23370|0.23370	0.0565|0.0565	N|N	0.14661|0.14661	0.345|0.345	0.44816|0.44816	D|D	0.997829|0.997829	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.05178|0.05178	-1.0901|-1.0901	5|10	.|0.52906	.|T	.|0.07	.|.	7.5908|7.5908	0.28019|0.28019	0.1349:0.727:0.0:0.1381|0.1349:0.727:0.0:0.1381	.|.	.|159	.|Q15040	.|JOS1_HUMAN	T|I	111|159	.|ENSP00000216039:M159I	.|ENSP00000216039:M159I	A|M	-|-	1|3	0|0	JOSD1|JOSD1	37414918|37414918	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.887000|0.887000	0.51463|0.51463	1.213000|1.213000	0.32407|0.32407	0.740000|0.740000	0.32651|0.32651	0.655000|0.655000	0.94253|0.94253	GCC|ATG		0.537	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321047.1	NM_014876		36	53	0	0	0	1	0	36	53					T	39084972	C	T	39084972	3	4	435	1	0	0	0	0	1	0	0	0	7958	710	25	3	139	3	JOSD1	22	39084972	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	261364	39084972	12219594	8951	29876											
JOSD1	9929	broad.mit.edu	37	chr22	39085305	39085305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgattcagattacctgcGcttgtcccaccaaacagctt	9	11	7	14	1	1	2	1	1	0	1	2	2	2	2	4	0	4	2	4	0	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39085305G>A	ENST00000216039.5	-	2	989	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	104	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	omega peptidase activity (GO:0008242)			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					GATTACCTGCGCTTGTCCCAC	0.483																																						ENST00000216039.5																			0				large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5						c.(310-312)Cgc>Tgc		Josephin domain containing 1							166	133	144					22																	39085305		2203	4300	6503	SO:0001583	missense	9929						peptidase activity	g.chr22:39085305G>A		CCDS13976.1	22q13.1	2005-11-10			ENSG00000100221	ENSG00000100221			28953	protein-coding gene	gene with protein product		615323				7584044	Standard	NM_014876		Approved	KIAA0063	uc003awf.3	Q15040	OTTHUMG00000151030	ENST00000216039.5:c.310C>T	22.37:g.39085305G>A	ENSP00000216039:p.Arg104Cys						p.R104C	NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN			2	989	-	Melanoma(58;0.04)		104			Josephin.		A8K712	Missense_Mutation	SNP	ENST00000216039.5	37	c.310C>T	CCDS13976.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322406	0.60634	.	.	ENSG00000100221	ENST00000216039;ENST00000427389;ENST00000412832	T;T;T	0.69435	0.8;0.8;-0.4	5.76	5.76	0.90799	.	0.093155	0.64402	D	0.000001	T	0.72630	0.3484	M	0.90705	3.14	0.80722	D	1	B	0.33379	0.41	B	0.30646	0.118	T	0.77067	-0.2725	10	0.87932	D	0	.	14.7746	0.69713	0.0:0.0:0.8557:0.1443	.	104	Q15040	JOS1_HUMAN	C	104	ENSP00000216039:R104C;ENSP00000410010:R104C;ENSP00000415189:R104C	ENSP00000216039:R104C	R	-	1	0	JOSD1	37415251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.888000	0.69758	2.713000	0.92767	0.655000	0.94253	CGC		0.483	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321047.1	NM_014876		8	49	0	0	0	1	0	8	49					A	39085305	G	A	39085305	3	1	435	1	0	0	0	0	1	0	0	0	7958	1087	38	1	310	1	JOSD1	22	39085305	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	333	39085305	12219261	8952	29877											
SUN2	25777	broad.mit.edu	37	chr22	39144768	39144768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggaaccagaggaacGtcttcagggacgagaagcgc	13	3	15	10	3	2	2	1	0	1	2	2	6	2	5	1	3	4	2	1	3	3	1	rs142155226	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39144768G>A	ENST00000405510.1	-	8	993	c.635C>T	c.(634-636)aCg>aTg	p.T212M	RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000406622.1_Missense_Mutation_p.T212M|SUN2_ENST00000411587.2_Missense_Mutation_p.T201M|SUN2_ENST00000405018.1_Missense_Mutation_p.T233M|SUN2_ENST00000216064.4_Missense_Mutation_p.T212M	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	212					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CCAGAGGAACGTCTTCAGGGA	0.647													G|||	2	0.000399361	0	0	5008	,	,		18735	0.002		0	False		,,,				2504	0					ENST00000405510.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						c.(634-636)aCg>aTg		Sad1 and UNC84 domain containing 2		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	113	98	103		698,635,635	0.7	0.4	22	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	SUN2	NM_001199579.1,NM_001199580.1,NM_015374.2	81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	233/739,212/718,212/718	39144768	1,13005	2203	4300	6503	SO:0001583	missense	25777				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	g.chr22:39144768G>A	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"unc-84 homolog B (C. elegans)"	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.635C>T	22.37:g.39144768G>A	ENSP00000385740:p.Thr212Met					SUN2_ENST00000405018.1_Missense_Mutation_p.T233M|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Missense_Mutation_p.T201M|SUN2_ENST00000406622.1_Missense_Mutation_p.T212M|SUN2_ENST00000216064.4_Missense_Mutation_p.T212M	p.T212M	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN			8	993	-			212					B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	ENST00000405510.1	37	c.635C>T	CCDS13978.1	3|3	0.0013736263736263737|0.0013736263736263737	0|0	0.0|0.0	0|0	0.0|0.0	3|3	0.005244755244755245|0.005244755244755245	0|0	0.0|0.0	G|G	14.01|14.01	2.407140|2.407140	0.42715|0.42715	0.0|0.0	1.16E-4|1.16E-4	ENSG00000100242|ENSG00000100242	ENST00000430185|ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000438058	.|T;T;T;T;T;T	.|0.31510	.|2.73;2.73;2.72;2.73;2.72;1.49	4.73|4.73	0.727|0.727	0.18254|0.18254	.|.	.|0.466049	.|0.20359	.|N	.|0.093884	T|T	0.09468|0.09468	0.0233|0.0233	N|N	0.14661|0.14661	0.345|0.345	0.20821|0.20821	N|N	0.999846|0.999846	.|B;B;B;B;B	.|0.23650	.|0.089;0.089;0.089;0.03;0.019	.|B;B;B;B;B	.|0.13407	.|0.007;0.007;0.007;0.009;0.007	T|T	0.13656|0.13656	-1.0501|-1.0501	5|10	.|0.66056	.|D	.|0.02	-0.6299|-0.6299	2.1687|2.1687	0.03844|0.03844	0.1089:0.1416:0.4446:0.3048|0.1089:0.1416:0.4446:0.3048	.|.	.|201;247;212;233;212	.|B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.|.;.;.;.;SUN2_HUMAN	C|M	69|212;212;233;212;201;166	.|ENSP00000385740:T212M;ENSP00000216064:T212M;ENSP00000385616:T233M;ENSP00000383992:T212M;ENSP00000395601:T201M;ENSP00000406941:T166M	.|ENSP00000216064:T212M	R|T	-|-	1|2	0|0	SUN2|SUN2	37474714|37474714	0.258000|0.258000	0.24033|0.24033	0.405000|0.405000	0.26409|0.26409	0.947000|0.947000	0.59692|0.59692	1.054000|1.054000	0.30455|0.30455	0.494000|0.494000	0.27859|0.27859	0.561000|0.561000	0.74099|0.74099	CGT|ACG		0.647	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		23	48	0	0	0	1	0	23	48					A	39144768	G	A	39144768	3	1	435	1	0	0	0	0	1	0	0	0	15389	1145	40	1	1566	1	SUN2	22	39144768	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59463	39144768	12159798	8953	29878											
NPTXR	23467	broad.mit.edu	37	chr22	39218726	39218726	+	Missense_Mutation	SNP	C	C	T																															tgcccagcagtggcgcagtgCagttggcaatgcccaggacc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39218726C>T	ENST00000333039.2	-	5	1514	c.1391G>A	c.(1390-1392)tGc>tAc	p.C464Y		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	464	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TGGCGCAGTGCAGTTGGCAAT	0.612																																					Pancreas(139;2521 3281 36965)	ENST00000333039.2																			0				central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1390-1392)tGc>tAc		neuronal pentraxin receptor							60	45	50					22																	39218726		2203	4300	6503	SO:0001583	missense	23467					integral to membrane	metal ion binding	g.chr22:39218726C>T	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1391G>A	22.37:g.39218726C>T	ENSP00000327545:p.Cys464Tyr						p.C464Y	NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN			5	1514	-	Melanoma(58;0.04)		464			Pentaxin.			Missense_Mutation	SNP	ENST00000333039.2	37	c.1391G>A	CCDS33647.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121930	0.77436	.	.	ENSG00000221890	ENST00000333039	T	0.06849	3.25	3.76	3.76	0.43208	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	H	0.96080	3.765	0.47153	D	0.999330	D	0.76494	0.999	D	0.87578	0.998	T	0.67995	-0.5526	9	0.87932	D	0	-37.9572	16.4511	0.83991	0.0:1.0:0.0:0.0	.	464	O95502	NPTXR_HUMAN	Y	464	ENSP00000327545:C464Y	ENSP00000327545:C464Y	C	-	2	0	NPTXR	37548672	1.000000	0.71417	0.987000	0.45799	0.911000	0.54048	6.039000	0.70972	2.037000	0.60232	0.462000	0.41574	TGC		0.612	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293		6	17	0	0	0	1	0	6	17					T	39218726	C	T	39218726	3	4	435	1	0	0	0	0	1	0	0	0	10604	710	25	3	115	3	NPTXR	22	39218726	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	73958	39218726	12085840	8954	29879	141	2									
NPTXR	23467	broad.mit.edu	37	chr22	39218732	39218732	+	Missense_Mutation	SNP	G	G	A																															gcagtggcgcagtgcagttgGcaatgcccaggacctgggct																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39218732G>A	ENST00000333039.2	-	5	1508	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	462	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AGTGCAGTTGGCAATGCCCAG	0.607																																					Pancreas(139;2521 3281 36965)	ENST00000333039.2																			0				central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1384-1386)gCc>gTc		neuronal pentraxin receptor							59	45	49					22																	39218732		2203	4300	6503	SO:0001583	missense	23467					integral to membrane	metal ion binding	g.chr22:39218732G>A	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1385C>T	22.37:g.39218732G>A	ENSP00000327545:p.Ala462Val						p.A462V	NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN			5	1508	-	Melanoma(58;0.04)		462			Pentaxin.			Missense_Mutation	SNP	ENST00000333039.2	37	c.1385C>T	CCDS33647.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450678	0.84101	.	.	ENSG00000221890	ENST00000333039	T	0.60171	0.21	3.76	3.76	0.43208	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.80116	0.4564	M	0.90252	3.1	0.44024	D	0.996749	D	0.76494	0.999	D	0.85130	0.997	D	0.86786	0.1982	9	0.87932	D	0	-37.3641	16.4511	0.83991	0.0:0.0:1.0:0.0	.	462	O95502	NPTXR_HUMAN	V	462	ENSP00000327545:A462V	ENSP00000327545:A462V	A	-	2	0	NPTXR	37548678	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.815000	0.86186	2.037000	0.60232	0.462000	0.41574	GCC		0.607	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293		5	14	0	0	0	1	0	5	14					A	39218732	G	A	39218732	3	1	435	1	0	0	0	0	1	0	0	0	10604	1203	42	3	121	3	NPTXR	22	39218732	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6	39218732	12085834	8955	29880	141	2									
NPTXR	23467	broad.mit.edu	37	chr22	39222688	39222688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttccgcacgcgggcgtaCatgtagttgttacggatggg	6	10	15	10	5	0	0	0	0	0	0	1	1	1	1	2	3	2	5	2	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39222688C>T	ENST00000333039.2	-	3	1038	c.915G>A	c.(913-915)atG>atA	p.M305I		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	305	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CGCGGGCGTACATGTAGTTGT	0.632																																					Pancreas(139;2521 3281 36965)	ENST00000333039.2																			0				central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(913-915)atG>atA		neuronal pentraxin receptor							97	86	90					22																	39222688		2203	4300	6503	SO:0001583	missense	23467					integral to membrane	metal ion binding	g.chr22:39222688C>T	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.915G>A	22.37:g.39222688C>T	ENSP00000327545:p.Met305Ile						p.M305I	NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN			3	1038	-	Melanoma(58;0.04)		305			Pentaxin.			Missense_Mutation	SNP	ENST00000333039.2	37	c.915G>A	CCDS33647.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181446	0.94885	.	.	ENSG00000221890	ENST00000333039	T	0.58652	0.32	4.64	4.64	0.57946	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.118102	0.85682	D	0.000000	T	0.71550	0.3353	L	0.56340	1.77	0.41875	D	0.990294	D	0.56521	0.976	D	0.72338	0.977	T	0.66763	-0.5841	9	0.31617	T	0.26	-73.0102	18.8307	0.92137	0.0:1.0:0.0:0.0	.	305	O95502	NPTXR_HUMAN	I	305	ENSP00000327545:M305I	ENSP00000327545:M305I	M	-	3	0	NPTXR	37552634	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.603000	0.82811	2.861000	0.98227	0.655000	0.94253	ATG		0.632	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293		10	26	0	0	0	1	0	10	26					T	39222688	C	T	39222688	3	4	435	1	0	0	0	0	1	0	0	0	10604	478	17	3	599	3	NPTXR	22	39222688	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3956	39222688	12081878	8956	29881											
APOBEC3B	9582	broad.mit.edu	37	chr22	39387493	39387493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggctgtgccggggaagtgCgtgcgttccttcaggagaac	6	8	18	9	3	1	1	1	0	0	1	2	3	2	2	2	5	4	2	2	5	2	2	rs374260464		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39387493C>T	ENST00000333467.3	+	6	925	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	APOBEC3B_ENST00000402182.3_Missense_Mutation_p.R294C|APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R269C	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	294					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CGGGGAAGTGCGTGCGTTCCT	0.582																																						ENST00000402182.3																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(880-882)Cgt>Tgt		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B							102	103	103					22																	39387493		2198	4283	6481	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39387493C>T	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.880C>T	22.37:g.39387493C>T	ENSP00000327459:p.Arg294Cys					APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R294C|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R269C	p.R294C			Q9UH17	ABC3B_HUMAN			6	935	+	Melanoma(58;0.04)		294					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.880C>T	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	3.119	-0.181057	0.06380	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.66638	-0.22;-0.22;-0.22	2.0	-3.51	0.04696	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.52125	0.1715	L	0.55743	1.74	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.48352	-0.9043	9	0.72032	D	0.01	.	0.9054	0.01283	0.2574:0.3452:0.2302:0.1673	.	269;294	B0QYD2;Q9UH17	.;ABC3B_HUMAN	C	269;294;294	ENSP00000385068:R269C;ENSP00000385060:R294C;ENSP00000327459:R294C	ENSP00000327459:R294C	R	+	1	0	APOBEC3B	37717439	0.197000	0.23362	0.000000	0.03702	0.000000	0.00434	0.362000	0.20284	-0.801000	0.04427	-1.842000	0.00583	CGT		0.582	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		55	117	0	0	0	1	0	55	117					T	39387493	C	T	39387493	3	4	435	1	0	0	0	0	1	0	0	0	790	768	27	1	902	1	APOBEC3B	22	39387493	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	164805	39387493	11917073	8957	29882											
PDGFB	5155	broad.mit.edu	37	chr22	39629517	39629517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatgttcaggtccaactcgGccccatcttcctctgcagga	7	11	8	15	1	4	0	2	0	2	0	7	1	6	1	4	3	2	2	4	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39629517G>A	ENST00000331163.6	-	3	960	c.173C>T	c.(172-174)gCc>gTc	p.A58V	PDGFB_ENST00000381551.4_Missense_Mutation_p.A43V	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	58					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					GTCCAACTCGGCCCCATCTTC	0.637			T	COL1A1	DFSP																																	ENST00000331163.6				Dom	yes		22	22q12.3-q13.1	5155	T	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)			M	COL1A1		DFSP	COL1A1/PDGFB(429)	0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7						c.(172-174)gCc>gTc		platelet-derived growth factor beta polypeptide	Becaplermin(DB00102)						60	61	60					22																	39629517		2203	4300	6503	SO:0001583	missense	5155				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	g.chr22:39629517G>A		CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"oncogene SIS", "becaplermin"	190040	"platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.173C>T	22.37:g.39629517G>A	ENSP00000330382:p.Ala58Val					PDGFB_ENST00000381551.4_Missense_Mutation_p.A43V	p.A58V	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN			3	960	-	Melanoma(58;0.04)		58					G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Missense_Mutation	SNP	ENST00000331163.6	37	c.173C>T	CCDS13987.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543786	0.65198	.	.	ENSG00000100311	ENST00000331163;ENST00000381551;ENST00000455790;ENST00000440375	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.28	5.28	0.74379	Platelet-derived growth factor, N-terminal (1);	0.839482	0.09337	U	0.816076	T	0.53045	0.1772	L	0.38175	1.15	0.09310	N	1	D;D	0.58970	0.984;0.976	P;P	0.60173	0.87;0.6	T	0.48269	-0.9050	10	0.29301	T	0.29	-8.2268	15.6134	0.76744	0.0:0.0:1.0:0.0	.	58;43	P01127;G3XAG8	PDGFB_HUMAN;.	V	58;43;27;27	ENSP00000330382:A58V;ENSP00000370963:A43V;ENSP00000402306:A27V;ENSP00000405780:A27V	ENSP00000330382:A58V	A	-	2	0	PDGFB	37959463	0.042000	0.20092	0.956000	0.39512	0.710000	0.40934	2.433000	0.44793	2.481000	0.83766	0.561000	0.74099	GCC		0.637	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321043.1	NM_002608		8	13	0	0	0	1	0	8	13					A	39629517	G	A	39629517	3	1	435	1	0	0	0	0	1	0	0	0	11658	1203	42	3	568	3	PDGFB	22	39629517	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	242024	39629517	11675049	8958	29883											
MGAT3	4248	broad.mit.edu	37	chr22	39884916	39884916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaggggtcccgagggaaggCcgcccgcccggggcaaactg	8	2	17	14	4	0	0	0	0	0	0	1	2	1	1	4	6	1	1	4	6	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39884916C>T	ENST00000341184.6	+	2	1779	c.1564C>T	c.(1564-1566)Ccg>Tcg	p.P522S		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	522					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CGAGGGAAGGCCGCCCGCCCG	0.677																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(1564-1566)Ccg>Tcg		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							14	18	17					22																	39884916		2150	4217	6367	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884916C>T	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1564C>T	22.37:g.39884916C>T	ENSP00000345270:p.Pro522Ser						p.P522S	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	1779	+	Melanoma(58;0.04)		522					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.1564C>T	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	C	4.208	0.037361	0.08148	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.11	-2.96	0.05547	.	1.765770	0.03385	N	0.200889	T	0.11836	0.0288	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	9	0.02654	T	1	.	1.7443	0.02958	0.1121:0.29:0.2204:0.3775	.	522	Q09327	MGAT3_HUMAN	S	522	.	ENSP00000345270:P522S	P	+	1	0	MGAT3	38214862	0.002000	0.14202	0.007000	0.13788	0.008000	0.06430	-0.509000	0.06336	-0.216000	0.10048	-0.133000	0.14855	CCG		0.677	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		8	5	0	0	0	1	0	8	5					T	39884916	C	T	39884916	3	4	435	1	0	0	0	0	1	0	0	0	9544	739	26	3	1566	3	MGAT3	22	39884916	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	255399	39884916	11419650	8959	29884											
SMCR7L	54471	broad.mit.edu	37	chr22	39910048	39910048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagatcctcaaggccatatGcaagtccaccccggctctgg	10	7	9	15	1	2	1	1	0	1	1	4	1	4	1	5	3	1	2	5	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39910048G>A	ENST00000325301.2	+	6	1536	c.1112G>A	c.(1111-1113)tGc>tAc	p.C371Y	MIEF1_ENST00000404569.1_Missense_Mutation_p.C371Y|MIEF1_ENST00000402881.1_Missense_Mutation_p.C371Y	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	371					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										AAGGCCATATGCAAGTCCACC	0.647											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325301.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16						c.(1111-1113)tGc>tAc									67	59	62					22																	39910048		2203	4300	6503	SO:0001583	missense	0					integral to membrane|mitochondrion		g.chr22:39910048G>A	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"Smith-Magenis syndrome chromosome region, candidate 7-like"	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1112G>A	22.37:g.39910048G>A	ENSP00000327124:p.Cys371Tyr		OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	SMCR7L_ENST00000402881.1_Missense_Mutation_p.C371Y|SMCR7L_ENST00000404569.1_Missense_Mutation_p.C371Y	p.C371Y	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN			6	1536	+	Melanoma(58;0.04)		371					Q7L890|Q9BUI3	Missense_Mutation	SNP	ENST00000325301.2	37	c.1112G>A	CCDS13995.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504100	0.85176	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.08282	3.11;3.11;3.11	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.27594	0.0678	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.996;0.999	T	0.12400	-1.0549	10	0.02654	T	1	-24.2768	20.6439	0.99570	0.0:0.0:1.0:0.0	.	371;371	Q9NQG6;B0QY95	MID51_HUMAN;.	Y	371	ENSP00000385110:C371Y;ENSP00000327124:C371Y;ENSP00000385191:C371Y	ENSP00000327124:C371Y	C	+	2	0	SMCR7L	38239994	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.849000	0.99510	2.884000	0.98904	0.655000	0.94253	TGC		0.647	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008		8	33	0	0	0	1	0	8	33					A	39910048	G	A	39910048	3	1	435	1	0	0	0	0	1	0	0	0	14791	1319	46	3	1126	3	SMCR7L	22	39910048	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25132	39910048	11394518	8960	29885											
CACNA1I	8911	broad.mit.edu	37	chr22	40037071	40037071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaggacctcaatgccagcGgcctctgtgtcaactggaac	9	7	11	14	1	3	0	2	0	1	0	3	2	3	2	4	3	4	0	4	3	3	0	rs61607492	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:40037071G>T	ENST00000402142.3	+	6	940	c.940G>T	c.(940-942)Ggc>Tgc	p.G314C	CACNA1I_ENST00000401624.1_Missense_Mutation_p.G314C|CACNA1I_ENST00000336649.4_Missense_Mutation_p.G314C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G314C|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G314C|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G314C	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	314					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CAATGCCAGCGGCCTCTGTGT	0.607																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(940-942)Ggc>Tgc		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						62	68	66					22																	40037071		2047	4184	6231	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40037071G>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.940G>T	22.37:g.40037071G>T	ENSP00000385019:p.Gly314Cys					CACNA1I_ENST00000400164.3_Missense_Mutation_p.G314C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G314C|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G314C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G314C|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G314C	p.G314C			Q9P0X4	CAC1I_HUMAN			8	940	+	Melanoma(58;0.0749)		314					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.940G>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538288	0.85917	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97232	-4.28;-4.24;-4.26;-4.23;-4.3;-4.2	5.21	5.21	0.72293	Ion transport (1);	0.213199	0.42053	D	0.000766	D	0.98441	0.9481	M	0.79693	2.465	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.993	D	0.99250	1.0887	10	0.59425	D	0.04	.	18.7618	0.91855	0.0:0.0:1.0:0.0	.	314;314;314;314	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	C	314	ENSP00000385019:G314C;ENSP00000384093:G314C;ENSP00000383887:G314C;ENSP00000385680:G314C;ENSP00000337829:G314C;ENSP00000383028:G314C	ENSP00000337829:G314C	G	+	1	0	CACNA1I	38367017	0.986000	0.35501	0.988000	0.46212	0.793000	0.44817	4.051000	0.57412	2.445000	0.82738	0.563000	0.77884	GGC		0.607	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		26	50	1	0	3.65163e-15	1	3.99483e-15	26	50					T	40037071	G	T	40037071	3	4	435	1	0	0	0	0	1	0	0	0	2546	1116	39	5	962	5	CACNA1I	22	40037071	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	127023	40037071	11267495	8961	29886											
ENTHD1	150350	broad.mit.edu	37	chr22	40257913	40257913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaatatagagtgggaggtaCgctgtctagtccgacatgcc	11	9	12	9	2	1	1	0	0	1	1	2	3	2	2	2	2	2	2	2	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:40257913C>T	ENST00000325157.6	-	3	699	c.449G>A	c.(448-450)cGt>cAt	p.R150H		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	150										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GTGGGAGGTACGCTGTCTAGT	0.448																																						ENST00000325157.6																			0				breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32						c.(448-450)cGt>cAt		ENTH domain containing 1							82	75	77					22																	40257913		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40257913C>T	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.449G>A	22.37:g.40257913C>T	ENSP00000317431:p.Arg150His						p.R150H	NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN			3	699	-	Melanoma(58;0.0749)		150					B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.449G>A	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486728	0.63962	.	.	ENSG00000176177	ENST00000325157	T	0.56776	0.44	6.17	6.17	0.99709	ENTH/VHS (1);	0.000000	0.64402	D	0.000004	T	0.71634	0.3363	M	0.66939	2.045	0.41161	D	0.986093	D	0.89917	1.0	D	0.85130	0.997	T	0.72724	-0.4207	10	0.87932	D	0	-14.2028	16.3795	0.83443	0.0:1.0:0.0:0.0	.	150	Q8IYW4	ENTD1_HUMAN	H	150	ENSP00000317431:R150H	ENSP00000317431:R150H	R	-	2	0	ENTHD1	38587859	0.948000	0.32251	0.826000	0.32828	0.166000	0.22503	3.949000	0.56668	2.941000	0.99782	0.655000	0.94253	CGT		0.448	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		22	34	0	0	0	1	0	22	34					T	40257913	C	T	40257913	3	4	435	1	0	0	0	0	1	0	0	0	5137	536	19	1	1394	1	ENTHD1	22	40257913	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	220842	40257913	11046653	8962	29887											
GRAP2	9402	broad.mit.edu	37	chr22	40365471	40365471	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtggcaccggcttgggCagtgaaatgaatgcggccct	8	9	14	10	2	0	2	0	2	0	0	0	2	0	2	2	4	1	3	2	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:40365471C>T	ENST00000344138.4	+	7	1010	c.747C>T	c.(745-747)ggC>ggT	p.G249G	GRAP2_ENST00000543252.1_Silent_p.G209G|GRAP2_ENST00000544756.1_Silent_p.G177G|GRAP2_ENST00000540310.1_Silent_p.G183G|GRAP2_ENST00000407075.3_Silent_p.G249G|GRAP2_ENST00000399090.2_Silent_p.G136G	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	249					cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCGGCTTGGGCAGTGAAATGA	0.577																																						ENST00000344138.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(745-747)ggC>ggT		GRB2-related adaptor protein 2							128	109	115					22																	40365471		2203	4300	6503	SO:0001819	synonymous_variant	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40365471C>T	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"SH2 domain containing"	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.747C>T	22.37:g.40365471C>T						GRAP2_ENST00000540310.1_Silent_p.G183G|GRAP2_ENST00000407075.3_Silent_p.G249G|GRAP2_ENST00000399090.2_Silent_p.G136G|GRAP2_ENST00000544756.1_Silent_p.G177G|GRAP2_ENST00000543252.1_Silent_p.G209G	p.G249G	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN			7	1010	+			249					B7Z8I3|O43726|Q9NRB7	Silent	SNP	ENST00000344138.4	37	c.747C>T	CCDS13999.1																																																																																				0.577	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810		19	27	0	0	0	1	0	19	27					T	40365471	C	T	40365471	2	4	435	1	0	0	0	0	0	0	0	1	6754	697	25	3		3	GRAP2	22	40365471	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	107558	40365471	10939095	8963	29888											
FAM83F	113828	broad.mit.edu	37	chr22	40417440	40417440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgagcctggcgggcaGggttggcctccattactcct	5	9	14	13	1	0	1	0	1	0	0	2	1	2	1	4	4	3	4	4	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:40417440G>T	ENST00000333407.6	+	4	1020	c.926G>T	c.(925-927)aGg>aTg	p.R309M	FAM83F_ENST00000473717.1_Missense_Mutation_p.R141M	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	309										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTGGCGGGCAGGGTTGGCCTC	0.617																																						ENST00000333407.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						c.(925-927)aGg>aTg		family with sequence similarity 83, member F							90	92	92					22																	40417440		2203	4300	6503	SO:0001583	missense	113828							g.chr22:40417440G>T		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.926G>T	22.37:g.40417440G>T	ENSP00000330432:p.Arg309Met					FAM83F_ENST00000473717.1_3'UTR	p.R309M	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN			4	1020	+			309					Q96FD6	Missense_Mutation	SNP	ENST00000333407.6	37	c.926G>T	CCDS14000.2	.	.	.	.	.	.	.	.	.	.	G	4.819	0.152188	0.09185	.	.	ENSG00000133477	ENST00000333407	T	0.09073	3.02	3.59	2.55	0.30701	.	1.031430	0.07713	N	0.942414	T	0.06645	0.0170	L	0.32530	0.975	0.09310	N	1	P	0.40476	0.718	B	0.36186	0.219	T	0.34229	-0.9837	10	0.44086	T	0.13	-12.9057	4.9042	0.13789	0.1417:0.0:0.6449:0.2135	.	309	Q8NEG4	FA83F_HUMAN	M	309	ENSP00000330432:R309M	ENSP00000330432:R309M	R	+	2	0	FAM83F	38747386	0.246000	0.23909	0.003000	0.11579	0.059000	0.15707	1.613000	0.36900	1.060000	0.40578	0.511000	0.50034	AGG		0.617	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		5	82	1	0	0.184627	1	0.185007	5	82					T	40417440	G	T	40417440	3	4	435	1	0	0	0	0	1	0	0	0	5638	1000	35	5	940	5	FAM83F	22	40417440	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	51969	40417440	10887126	8964	29889											
TNRC6B	23112	broad.mit.edu	37	chr22	40661215	40661215	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaggggcattggaaacAgataatagtaattccagtgc	16	8	12	5	0	0	1	0	0	0	1	1	3	1	3	1	4	2	2	1	4	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:40661215A>G	ENST00000454349.2	+	5	1192	c.981A>G	c.(979-981)acA>acG	p.T327T	TNRC6B_ENST00000335727.9_Silent_p.T327T|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	327	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CATTGGAAACAGATAATAGTA	0.473																																						ENST00000454349.2																			0				breast(1)	1						c.(979-981)acA>acG		trinucleotide repeat containing 6B							51	48	49					22																	40661215		1902	4121	6023	SO:0001819	synonymous_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40661215A>G	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.981A>G	22.37:g.40661215A>G						TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Silent_p.T327T	p.T327T	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			5	1192	+			327					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000454349.2	37	c.981A>G	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	A	0.026	-1.370343	0.01225	.	.	ENSG00000100354	ENST00000446273	.	.	.	5.07	-7.2	0.01495	.	.	.	.	.	T	0.19927	0.0479	.	.	.	0.30834	N	0.736358	.	.	.	.	.	.	T	0.32214	-0.9915	4	.	.	.	2.2603	0.8545	0.01179	0.3382:0.1289:0.2897:0.2432	.	.	.	.	R	70	.	.	Q	+	2	0	TNRC6B	38991161	0.001000	0.12720	0.068000	0.19968	0.746000	0.42486	-1.748000	0.01826	-0.858000	0.04110	-0.256000	0.11100	CAG		0.473	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				18	22	0	0	0	1	0	18	22					G	40661215	A	G	40661215	2	3	435	1	0	0	0	0	0	0	0	1	16338	175	7	4		4	TNRC6B	22	40661215	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	243775	40661215	10643351	8965	29890											
TNRC6B	23112	broad.mit.edu	37	chr22	40711437	40711437	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctgaccaaccccaaacCatcatctccctggagcagca	11	7	7	16	0	3	1	1	1	2	0	4	2	3	2	5	2	4	2	5	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:40711437C>A	ENST00000454349.2	+	20	5040	c.4829C>A	c.(4828-4830)cCa>cAa	p.P1610Q	TNRC6B_ENST00000335727.9_Missense_Mutation_p.P1500Q|TNRC6B_ENST00000301923.9_Missense_Mutation_p.P806Q|TNRC6B_ENST00000402203.1_Missense_Mutation_p.P806Q	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1610	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						AACCCCAAACCATCATCTCCC	0.582																																						ENST00000454349.2																			0				breast(1)	1						c.(4828-4830)cCa>cAa		trinucleotide repeat containing 6B							60	63	62					22																	40711437		2069	4191	6260	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40711437C>A	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4829C>A	22.37:g.40711437C>A	ENSP00000401946:p.Pro1610Gln					TNRC6B_ENST00000402203.1_Missense_Mutation_p.P806Q|TNRC6B_ENST00000301923.9_Missense_Mutation_p.P806Q|TNRC6B_ENST00000335727.8_Missense_Mutation_p.P1500Q	p.P1610Q	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			20	5040	+			1610					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.4829C>A	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.877179|4.877179	0.91664|0.91664	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000446273|ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	.|T;T;T;T	.|0.33438	.|1.41;1.41;2.63;2.65	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.275476	.|0.41605	.|D	.|0.000845	T|T	0.31263|0.31263	0.0791|0.0791	N|N	0.14661|0.14661	0.345|0.345	0.46078|0.46078	D|D	0.998851|0.998851	.|D;B;B;P	.|0.55800	.|0.973;0.001;0.001;0.773	.|P;B;B;P	.|0.49047	.|0.599;0.001;0.006;0.491	T|T	0.05733|0.05733	-1.0867|-1.0867	5|10	.|0.59425	.|D	.|0.04	-2.7127|-2.7127	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1610;1500;1500;806	.|Q9UPQ9;A8MYY3;Q9UPQ9-1;Q9UPQ9-2	.|TNR6B_HUMAN;.;.;.	N|Q	1296|806;806;1610;1500;1500	.|ENSP00000306759:P806Q;ENSP00000384795:P806Q;ENSP00000401946:P1610Q;ENSP00000338371:P1500Q	.|ENSP00000306759:P806Q	H|P	+|+	1|2	0|0	TNRC6B|TNRC6B	39041383|39041383	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.998000|0.998000	0.95712|0.95712	4.864000|4.864000	0.62990|0.62990	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CAT|CCA		0.582	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				15	33	1	0	1.3612e-06	1	1.41782e-06	15	33					A	40711437	C	A	40711437	3	1	435	1	0	0	0	0	1	0	0	0	16338	594	21	5	5028	5	TNRC6B	22	40711437	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	50222	40711437	10593129	8966	29891											
ADSL	158	broad.mit.edu	37	chr22	40757540	40757540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccatgcgttcagaacgttGctgcagtcttgcccgccacc	6	10	9	16	3	2	1	1	0	1	1	3	1	3	1	4	0	5	4	4	0	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:40757540G>A	ENST00000216194.7	+	9	967	c.911G>A	c.(910-912)tGc>tAc	p.C304Y	ADSL_ENST00000454266.2_Missense_Mutation_p.C318Y|ADSL_ENST00000342312.6_Missense_Mutation_p.C304Y|ADSL_ENST00000480775.1_3'UTR	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	304					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TCAGAACGTTGCTGCAGTCTT	0.522																																					Colon(4;65 130 1097 1516)	ENST00000216194.7																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						c.(910-912)tGc>tAc		adenylosuccinate lyase							165	132	143					22																	40757540		2203	4300	6503	SO:0001583	missense	158				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	g.chr22:40757540G>A	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.911G>A	22.37:g.40757540G>A	ENSP00000216194:p.Cys304Tyr					ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000454266.2_Missense_Mutation_p.C318Y|ADSL_ENST00000342312.6_Missense_Mutation_p.C304Y	p.C304Y	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN			9	967	+			304					B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	c.911G>A	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030281	0.93575	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028;ENST00000342312	T;T;T	0.76316	-1.01;-1.01;-1.01	5.91	5.91	0.95273	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	M	0.89214	3.015	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.81914	0.992;0.995;0.995;0.995	D	0.91340	0.5096	10	0.87932	D	0	-11.7125	20.2985	0.98592	0.0:0.0:1.0:0.0	.	318;304;304;304	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	Y	304;318;124;304	ENSP00000216194:C304Y;ENSP00000390107:C318Y;ENSP00000341429:C304Y	ENSP00000216194:C304Y	C	+	2	0	ADSL	39087486	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.026000	0.93700	2.793000	0.96121	0.655000	0.94253	TGC		0.522	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		46	57	0	0	0	1	0	46	57					A	40757540	G	A	40757540	3	1	435	1	0	0	0	0	1	0	0	0	346	1319	46	3	945	3	ADSL	22	40757540	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	46103	40757540	10547026	8967	29892											
MKL1	57591	broad.mit.edu	37	chr22	40820291	40820291	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggcacagaaccctgggaCtcatggctggcaggctgctc	8	6	14	13	1	1	1	1	0	0	1	2	3	1	2	1	5	2	5	1	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:40820291C>T	ENST00000355630.3	-	8	986	c.396G>A	c.(394-396)gaG>gaA	p.E132E	MKL1_ENST00000407029.1_Silent_p.E132E|MKL1_ENST00000396617.3_Silent_p.E132E|MKL1_ENST00000402042.1_Silent_p.E132E	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	132	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			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						AACCCTGGGACTCATGGCTGG	0.602			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				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						c.(394-396)gaG>gaA		megakaryoblastic leukemia (translocation) 1							106	97	100					22																	40820291		2203	4300	6503	SO:0001819	synonymous_variant	57591				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	g.chr22:40820291C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.396G>A	22.37:g.40820291C>T						MKL1_ENST00000407029.1_Silent_p.E132E|MKL1_ENST00000355630.3_Silent_p.E132E|MKL1_ENST00000402042.1_Silent_p.E132E	p.E132E			Q969V6	MKL1_HUMAN			8	986	-			132			Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.396G>A	CCDS14003.1																																																																																				0.602	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		23	77	0	0	0	1	0	23	77					T	40820291	C	T	40820291	2	4	435	1	0	0	0	0	0	0	0	1	9601	564	20	3		3	MKL1	22	40820291	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	62751	40820291	10484275	8968	29893											
MKL1	57591	broad.mit.edu	37	chr22	40827479	40827479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttccgtttgagatagtcCtctgtctacagaaaaaacac	13	12	6	10	1	3	2	0	1	3	2	5	3	5	2	2	0	2	1	2	0	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:40827479C>A	ENST00000355630.3	-	6	659	c.69G>T	c.(67-69)gaG>gaT	p.E23D	MKL1_ENST00000407029.1_Missense_Mutation_p.E23D|MKL1_ENST00000402630.1_Missense_Mutation_p.E23D|MKL1_ENST00000396617.3_Missense_Mutation_p.E23D|MKL1_ENST00000402042.1_Missense_Mutation_p.E23D	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	23	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			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						TGAGATAGTCCTCTGTCTACA	0.488			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				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						c.(67-69)gaG>gaT		megakaryoblastic leukemia (translocation) 1							194	180	185					22																	40827479		2203	4300	6503	SO:0001583	missense	57591				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	g.chr22:40827479C>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.69G>T	22.37:g.40827479C>A	ENSP00000347847:p.Glu23Asp					MKL1_ENST00000407029.1_Missense_Mutation_p.E23D|MKL1_ENST00000355630.3_Missense_Mutation_p.E23D|MKL1_ENST00000402630.1_Missense_Mutation_p.E23D|MKL1_ENST00000402042.1_Missense_Mutation_p.E23D	p.E23D			Q969V6	MKL1_HUMAN			6	659	-			23			Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.69G>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519838	0.85495	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029;ENST00000402630;ENST00000422851	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	4.4	2.33	0.28932	.	0.000000	0.85682	D	0.000000	D	0.99701	0.9886	M	0.68952	2.095	0.54753	D	0.999986	D;D;D	0.76494	0.999;0.991;0.991	D;P;P	0.78314	0.991;0.82;0.82	D	0.97575	1.0107	10	0.49607	T	0.09	-24.8479	9.4869	0.38935	0.0:0.7632:0.0:0.2368	.	23;23;23	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	D	23;23;23;23;23;50	ENSP00000347847:E23D;ENSP00000379861:E23D;ENSP00000385584:E23D;ENSP00000385835:E23D;ENSP00000385076:E23D;ENSP00000398478:E50D	ENSP00000347847:E23D	E	-	3	2	MKL1	39157425	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.975000	0.40569	1.218000	0.43458	0.650000	0.86243	GAG		0.488	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		45	64	1	0	1.57945e-13	1	1.71745e-13	45	64					A	40827479	C	A	40827479	3	1	435	1	0	0	0	0	1	0	0	0	9601	680	24	5	2766	5	MKL1	22	40827479	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7188	40827479	10477087	8969	29894											
EP300	2033	broad.mit.edu	37	chr22	41525896	41525896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgttttcttctctttagtgGcacactgtgcatcttctcga	6	18	7	10	1	4	0	0	0	4	0	6	1	4	0	0	1	1	3	0	1	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:41525896G>A	ENST00000263253.7	+	5	2390	c.1171G>A	c.(1171-1173)Gca>Aca	p.A391T		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	391					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			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						CTCTTTAGTGGCACACTGTGC	0.348			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"T,  N, F, Mis, O"	300 kd E1A-Binding protein gene			"L, E"	"MLL, RUNXBP2"		"colorectal, breast, pancreatic, AML, ALL, DLBCL"		0				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						c.(1171-1173)Gca>Aca		E1A binding protein p300							101	90	94					22																	41525896		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	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	g.chr22:41525896G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1171G>A	22.37:g.41525896G>A	ENSP00000263253:p.Ala391Thr						p.A391T	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			5	2390	+			391					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.1171G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	36	5.674841	0.96764	.	.	ENSG00000100393	ENST00000263253	D	0.82255	-1.59	5.61	5.61	0.85477	Zinc finger, TAZ-type (5);	0.000000	0.48286	D	0.000194	D	0.88735	0.6517	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87769	0.2604	10	0.48119	T	0.1	-8.4728	20.0018	0.97417	0.0:0.0:1.0:0.0	.	391	Q09472	EP300_HUMAN	T	391	ENSP00000263253:A391T	ENSP00000263253:A391T	A	+	1	0	EP300	39855842	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	GCA		0.348	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		10	41	0	0	0	1	0	10	41					A	41525896	G	A	41525896	3	1	435	1	0	0	0	0	1	0	0	0	5148	1203	42	3	1189	3	EP300	22	41525896	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	698417	41525896	9778670	8970	29895											
EP300	2033	broad.mit.edu	37	chr22	41536147	41536147	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggattttctttttccagcgtCcaagccatatttcctacgcc	7	15	6	13	2	1	0	0	0	1	0	4	1	4	1	5	1	3	0	5	1	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:41536147C>T	ENST00000263253.7	+	9	2983	c.1764C>T	c.(1762-1764)gtC>gtT	p.V588V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	588	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			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						TTTCCAGCGTCCAAGCCATAT	0.373			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"T,  N, F, Mis, O"	300 kd E1A-Binding protein gene			"L, E"	"MLL, RUNXBP2"		"colorectal, breast, pancreatic, AML, ALL, DLBCL"		0				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						c.(1762-1764)gtC>gtT		E1A binding protein p300							101	95	97					22																	41536147		2203	4300	6503	SO:0001819	synonymous_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	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	g.chr22:41536147C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1764C>T	22.37:g.41536147C>T							p.V588V	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			9	2983	+			588			KIX.		B1AKC2	Silent	SNP	ENST00000263253.7	37	c.1764C>T	CCDS14010.1																																																																																				0.373	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		30	55	0	0	0	1	0	30	55					T	41536147	C	T	41536147	2	4	435	1	0	0	0	0	0	0	0	1	5148	842	30	3		3	EP300	22	41536147	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10251	41536147	9768419	8971	29896											
EP300	2033	broad.mit.edu	37	chr22	41554480	41554480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgcacaatacctcgtgatgCcacttattacagttaccaga	12	11	7	11	1	0	2	0	1	0	1	1	2	0	2	3	0	5	2	3	0	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:41554480C>T	ENST00000263253.7	+	19	4785	c.3566C>T	c.(3565-3567)gCc>gTc	p.A1189V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1189					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			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						CCTCGTGATGCCACTTATTAC	0.498			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"T,  N, F, Mis, O"	300 kd E1A-Binding protein gene			"L, E"	"MLL, RUNXBP2"		"colorectal, breast, pancreatic, AML, ALL, DLBCL"		0				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						c.(3565-3567)gCc>gTc		E1A binding protein p300							124	87	100					22																	41554480		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	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	g.chr22:41554480C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3566C>T	22.37:g.41554480C>T	ENSP00000263253:p.Ala1189Val						p.A1189V	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			19	4785	+			1189					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.3566C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080683	0.94050	.	.	ENSG00000100393	ENST00000263253	D	0.85411	-1.98	5.95	5.95	0.96441	Domain of unknown function DUF902, CREBbp (1);	0.000000	0.48286	D	0.000193	D	0.92202	0.7527	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92017	0.5623	10	0.87932	D	0	-7.7629	20.3719	0.98893	0.0:1.0:0.0:0.0	.	1189	Q09472	EP300_HUMAN	V	1189	ENSP00000263253:A1189V	ENSP00000263253:A1189V	A	+	2	0	EP300	39884426	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.026000	0.70873	2.826000	0.97356	0.491000	0.48974	GCC		0.498	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		6	19	0	0	0	1	0	6	19					T	41554480	C	T	41554480	3	4	435	1	0	0	0	0	1	0	0	0	5148	739	26	3	3640	3	EP300	22	41554480	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18333	41554480	9750086	8972	29897											
L3MBTL2	83746	broad.mit.edu	37	chr22	41626154	41626154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcagtcattgctgtgCgtgtgaaggaagagcatcta	9	12	11	9	1	4	2	2	1	2	1	4	3	4	3	1	1	3	2	1	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:41626154C>T	ENST00000216237.5	+	17	2175	c.2017C>T	c.(2017-2019)Cgt>Tgt	p.R673C	CHADL_ENST00000216241.9_Intron	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	673					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATTGCTGTGCGTGTGAAGGA	0.607																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2017-2019)Cgt>Tgt		l(3)mbt-like 2 (Drosophila)							65	58	61					22																	41626154		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41626154C>T	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.2017C>T	22.37:g.41626154C>T	ENSP00000216237:p.Arg673Cys					CHADL_ENST00000216241.9_Intron	p.R673C	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			17	2175	+			673					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.2017C>T	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669523	0.29693	.	.	ENSG00000100395	ENST00000216237	T	0.19105	2.17	5.0	1.68	0.24146	.	1.576260	0.03256	N	0.182544	T	0.13415	0.0325	N	0.12182	0.205	0.39199	D	0.9631	B	0.02656	0.0	B	0.01281	0.0	T	0.11227	-1.0596	10	0.42905	T	0.14	.	5.9069	0.19006	0.0:0.5853:0.0:0.4147	.	673	Q969R5	LMBL2_HUMAN	C	673	ENSP00000216237:R673C	ENSP00000216237:R673C	R	+	1	0	L3MBTL2	39956100	0.771000	0.28555	0.020000	0.16555	0.093000	0.18481	1.104000	0.31074	0.234000	0.21139	0.650000	0.86243	CGT		0.607	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		9	42	0	0	0	1	0	9	42					T	41626154	C	T	41626154	3	4	435	1	0	0	0	0	1	0	0	0	8592	768	27	1	2083	1	L3MBTL2	22	41626154	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	71674	41626154	9678412	8973	29898											
CSDC2	27254	broad.mit.edu	37	chr22	41969707	41969707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagggcgtctgtaagcaGttctcacgctcacagggcca	9	9	11	12	2	4	0	3	0	2	0	5	0	4	0	1	2	1	4	1	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:41969707G>T	ENST00000306149.7	+	3	769	c.225G>T	c.(223-225)caG>caT	p.Q75H		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	75	CSD.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			prostate(2)|upper_aerodigestive_tract(1)	3						TCTGTAAGCAGTTCTCACGCT	0.612																																					NSCLC(181;294 2110 12667 14717 31090)	ENST00000306149.7																			0				prostate(2)|upper_aerodigestive_tract(1)	3						c.(223-225)caG>caT		cold shock domain containing C2, RNA binding							130	108	115					22																	41969707		2203	4300	6503	SO:0001583	missense	27254				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding	g.chr22:41969707G>T	AL834417	CCDS14019.1	22q13.2	2006-02-24			ENSG00000172346	ENSG00000172346			30359	protein-coding gene	gene with protein product						8573167, 12767259	Standard	NM_014460		Approved	PIPPin	uc003bak.1	Q9Y534	OTTHUMG00000150967	ENST00000306149.7:c.225G>T	22.37:g.41969707G>T	ENSP00000302485:p.Gln75His						p.Q75H	NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN			3	769	+			75			CSD.		Q8ND37	Missense_Mutation	SNP	ENST00000306149.7	37	c.225G>T	CCDS14019.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886501	0.72410	.	.	ENSG00000172346	ENST00000306149;ENST00000460790	.	.	.	5.41	5.41	0.78517	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.107337	0.64402	D	0.000004	T	0.37073	0.0990	N	0.03608	-0.345	0.54753	D	0.999987	P	0.44309	0.832	P	0.45998	0.5	T	0.30621	-0.9972	9	0.16420	T	0.52	.	18.8152	0.92075	0.0:0.0:1.0:0.0	.	75	Q9Y534	CSDC2_HUMAN	H	75;58	.	ENSP00000302485:Q75H	Q	+	3	2	CSDC2	40299653	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.965000	0.76067	2.534000	0.85438	0.555000	0.69702	CAG		0.612	CSDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320689.1	NM_014460		8	42	1	0	0.00307968	1	0.00311927	8	42					T	41969707	G	T	41969707	3	4	435	1	0	0	0	0	1	0	0	0	3928	1020	36	5	231	5	CSDC2	22	41969707	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	343553	41969707	9334859	8974	29899											
XRCC6	2547	broad.mit.edu	37	chr22	42032741	42032741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagtgccaaagccagccggGccaggaccaaagccggtgat	12	3	13	13	2	0	1	0	1	0	0	0	2	0	2	6	3	4	0	6	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:42032741G>A	ENST00000359308.4	+	4	1211	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	XRCC6_ENST00000405878.1_Missense_Mutation_p.A186T|XRCC6_ENST00000360079.3_Missense_Mutation_p.A186T|XRCC6_ENST00000405506.1_Missense_Mutation_p.A136T|XRCC6_ENST00000428575.2_Missense_Mutation_p.A53T|XRCC6_ENST00000402580.3_Missense_Mutation_p.A145T			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	186					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			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						AGCCAGCCGGGCCAGGACCAA	0.423								Non-homologous end-joining																														ENST00000359308.4																			0				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						c.(556-558)Gcc>Acc	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							62	64	63					22																	42032741		2203	4300	6503	SO:0001583	missense	2547				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	g.chr22:42032741G>A	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"Ku autoantigen, 70kDa"	152690	"thyroid autoantigen 70kD (Ku antigen)", "thyroid autoantigen 70kDa (Ku antigen)"	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.556G>A	22.37:g.42032741G>A	ENSP00000352257:p.Ala186Thr					XRCC6_ENST00000402580.3_Missense_Mutation_p.A145T|XRCC6_ENST00000428575.2_Missense_Mutation_p.A53T|XRCC6_ENST00000405506.1_Missense_Mutation_p.A136T|XRCC6_ENST00000360079.3_Missense_Mutation_p.A186T|XRCC6_ENST00000405878.1_Missense_Mutation_p.A186T	p.A186T			P12956	XRCC6_HUMAN			4	1211	+			186					B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.556G>A	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465246	0.96257	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	5.39	5.39	0.77823	Ku70/Ku80, N-terminal alpha/beta (1);	0.000000	0.85682	D	0.000000	T	0.74981	0.3788	L	0.53617	1.68	0.80722	D	1	D;D;D;D	0.89917	0.999;0.961;1.0;0.995	D;D;D;D	0.91635	0.975;0.917;0.999;0.963	T	0.68671	-0.5347	9	0.18710	T	0.47	-16.3524	19.1841	0.93635	0.0:0.0:1.0:0.0	.	136;186;145;186	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	T	186;145;53;186;186;186;136	.	ENSP00000352257:A186T	A	+	1	0	XRCC6	40362687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.537000	0.85549	0.655000	0.94253	GCC		0.423	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		5	52	0	0	0	1	0	5	52					A	42032741	G	A	42032741	3	1	435	1	0	0	0	0	1	0	0	0	17454	1203	42	3	570	3	XRCC6	22	42032741	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	63034	42032741	9271825	8975	29900											
NHP2L1	4809	broad.mit.edu	37	chr22	42071032	42071032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacagaacaggcgatgacagGcctggagaccccacaggctc	12	3	13	13	1	0	3	0	1	0	2	1	6	0	3	3	4	1	1	3	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:42071032G>A	ENST00000401959.1	-	4	608	c.292C>T	c.(292-294)Cct>Tct	p.P98S	NHP2L1_ENST00000215956.5_Missense_Mutation_p.P98S|NHP2L1_ENST00000402458.1_Missense_Mutation_p.P102S|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.P98S	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	98					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						GCGATGACAGGCCTGGAGACC	0.542																																						ENST00000401959.1																			0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(292-294)Cct>Tct		NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)							80	75	77					22																	42071032		2203	4300	6503	SO:0001583	missense	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42071032G>A		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"	601304	"non-histone chromosome protein 2 (S. cerevisiae)-like 1", "sperm specific antigen 1"	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.292C>T	22.37:g.42071032G>A	ENSP00000383949:p.Pro98Ser					NHP2L1_ENST00000402458.1_Missense_Mutation_p.P102S|NHP2L1_ENST00000355257.3_Missense_Mutation_p.P98S|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000215956.5_Missense_Mutation_p.P98S	p.P98S	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN			4	608	-			98						Missense_Mutation	SNP	ENST00000401959.1	37	c.292C>T	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.480983	0.44044	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.34	5.34	0.76211	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	T	0.53158	0.1779	L	0.42744	1.35	0.80722	D	1	P	0.35944	0.529	B	0.34536	0.185	T	0.55648	-0.8108	10	0.49607	T	0.09	.	19.4053	0.94646	0.0:0.0:1.0:0.0	.	98	P55769	NH2L1_HUMAN	S	98;98;98;102	ENSP00000347401:P98S;ENSP00000215956:P98S;ENSP00000383949:P98S;ENSP00000383989:P102S	ENSP00000215956:P98S	P	-	1	0	NHP2L1	40400978	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	9.421000	0.97455	2.666000	0.90696	0.591000	0.81541	CCT		0.542	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		26	35	0	0	0	1	0	26	35					A	42071032	G	A	42071032	3	1	435	1	0	0	0	0	1	0	0	0	10410	1203	42	3	98	3	NHP2L1	22	42071032	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38291	42071032	9233534	8976	29901											
SREBF2	6721	broad.mit.edu	37	chr22	42263147	42263147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcctattcttcagccccGcccccagccccagcctcaac	8	7	4	22	1	3	0	2	0	1	0	4	0	4	0	8	0	5	0	8	0	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:42263147G>A	ENST00000361204.4	+	2	567	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	134	Gln-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						CTTcagccccgcccccagccc	0.592																																						ENST00000361204.4																			0				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						c.(400-402)cGc>cAc		sterol regulatory element binding transcription factor 2							77	67	70					22																	42263147		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42263147G>A	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.401G>A	22.37:g.42263147G>A	ENSP00000354476:p.Arg134His						p.R134H	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			2	567	+			134			Gln-rich.		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.401G>A	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100255	0.76983	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.54479	0.57	5.07	4.06	0.47325	.	0.133228	0.49305	D	0.000144	T	0.49321	0.1550	N	0.22421	0.69	0.47407	D	0.99941	D	0.67145	0.996	P	0.57846	0.828	T	0.30446	-0.9978	10	0.15952	T	0.53	-19.4754	12.602	0.56503	0.0813:0.0:0.9187:0.0	.	134	Q12772	SRBP2_HUMAN	H	134	ENSP00000354476:R134H	ENSP00000354476:R134H	R	+	2	0	SREBF2	40593093	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.534000	0.67167	2.324000	0.78689	0.655000	0.94253	CGC		0.592	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		19	26	0	0	0	1	0	19	26					A	42263147	G	A	42263147	3	1	435	1	0	0	0	0	1	0	0	0	15141	1087	38	1	407	1	SREBF2	22	42263147	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	192115	42263147	9041419	8977	29902											
WBP2NL	164684	broad.mit.edu	37	chr22	42423111	42423111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatcaggagccaggcctcagGaatctacagcagcccaggct	11	5	12	13	0	3	0	2	0	1	0	3	3	3	2	3	4	4	2	3	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:42423111G>A	ENST00000328823.9	+	6	887	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	WBP2NL_ENST00000543212.1_Missense_Mutation_p.E212K	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	286					egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CAGGCCTCAGGAATCTACAGC	0.562																																						ENST00000328823.9																			0				breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						c.(856-858)Gaa>Aaa		WBP2 N-terminal like							73	83	80					22																	42423111		2203	4300	6503	SO:0001583	missense	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42423111G>A	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"postacrosomal sheath WW domain-binding protein"	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.856G>A	22.37:g.42423111G>A	ENSP00000332983:p.Glu286Lys					WBP2NL_ENST00000543212.1_Missense_Mutation_p.E212K	p.E286K	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN			6	887	+			286					A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	ENST00000328823.9	37	c.856G>A	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	G	9.241	1.038369	0.19669	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	T;T	0.22743	2.27;1.94	3.89	0.344	0.16006	.	.	.	.	.	T	0.07007	0.0178	N	0.03608	-0.345	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.40117	-0.9580	9	0.06099	T	0.92	.	7.7397	0.28835	0.2269:0.0:0.7731:0.0	.	286	Q6ICG8	WBP2L_HUMAN	K	286;212	ENSP00000332983:E286K;ENSP00000442447:E212K	ENSP00000332983:E286K	E	+	1	0	WBP2NL	40753057	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.760000	0.01806	0.046000	0.15833	0.580000	0.79431	GAA		0.562	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		34	54	0	0	0	1	0	34	54					A	42423111	G	A	42423111	3	1	435	1	0	0	0	0	1	0	0	0	17257	1175	41	3	878	3	WBP2NL	22	42423111	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	159964	42423111	8881455	8978	29903											
TCF20	6942	broad.mit.edu	37	chr22	42606103	42606103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtggccctcttaggaggtgGattcttcgggagagtggctg	5	12	17	7	1	2	1	0	0	2	1	3	4	2	3	1	6	0	1	1	6	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:42606103G>A	ENST00000359486.3	-	1	5345	c.5209C>T	c.(5209-5211)Cca>Tca	p.P1737S	TCF20_ENST00000404876.1_Missense_Mutation_p.P38S|TCF20_ENST00000335626.4_Missense_Mutation_p.P1737S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1737					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			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						TTAGGAGGTGGATTCTTCGGG	0.512																																						ENST00000359486.3																			0				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						c.(5209-5211)Cca>Tca		transcription factor 20 (AR1)							101	102	102					22																	42606103		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42606103G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5209C>T	22.37:g.42606103G>A	ENSP00000352463:p.Pro1737Ser					TCF20_ENST00000335626.4_Missense_Mutation_p.P1737S|TCF20_ENST00000404876.1_Missense_Mutation_p.P38S	p.P1737S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5345	-			1737					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.5209C>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349348	0.41599	.	.	ENSG00000100207	ENST00000359486;ENST00000335626;ENST00000404876	T;T;T	0.66995	0.35;0.35;-0.24	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.70710	0.3255	L	0.60455	1.87	0.58432	D	0.999994	B;B	0.31209	0.313;0.136	B;B	0.39027	0.288;0.15	T	0.64499	-0.6393	10	0.31617	T	0.26	-7.2393	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1737;1737	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	S	1737;1737;38	ENSP00000352463:P1737S;ENSP00000335561:P1737S;ENSP00000385531:P38S	ENSP00000335561:P1737S	P	-	1	0	TCF20	40936047	1.000000	0.71417	0.620000	0.29132	0.988000	0.76386	9.807000	0.99171	2.884000	0.98904	0.655000	0.94253	CCA		0.512	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		36	64	0	0	0	1	0	36	64					A	42606103	G	A	42606103	3	1	435	1	0	0	0	0	1	0	0	0	15687	1174	41	3	711	3	TCF20	22	42606103	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	182992	42606103	8698463	8979	29904											
RRP7A	27341	broad.mit.edu	37	chr22	42908986	42908986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctcctcgaacttcttgCgcagctgcgctagatctggg	5	12	11	13	3	2	1	0	0	2	1	5	2	4	1	2	1	4	3	2	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:42908986C>T	ENST00000323013.6	-	7	788	c.773G>A	c.(772-774)cGc>cAc	p.R258H	SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	258							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GAACTTCTTGCGCAGCTGCGC	0.657																																						ENST00000323013.6																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(772-774)cGc>cAc		ribosomal RNA processing 7 homolog A (S. cerevisiae)							41	34	37					22																	42908986		2203	4299	6502	SO:0001583	missense	27341						nucleotide binding|RNA binding	g.chr22:42908986C>T	BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.773G>A	22.37:g.42908986C>T	ENSP00000321449:p.Arg258His						p.R258H	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN			7	788	-			258					A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Missense_Mutation	SNP	ENST00000323013.6	37	c.773G>A	CCDS14036.1	.	.	.	.	.	.	.	.	.	.	.	16.49	3.138844	0.56936	.	.	ENSG00000189306	ENST00000323013	T	0.27720	1.65	3.41	2.33	0.28932	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	M	0.92412	3.305	0.58432	D	0.999998	D;P	0.58970	0.984;0.819	P;B	0.49451	0.611;0.355	T	0.65944	-0.6045	10	0.87932	D	0	-17.5917	12.5633	0.56295	0.0:0.8304:0.1696:0.0	.	258;81	Q9Y3A4;Q9NSQ0	RRP7A_HUMAN;RRP7B_HUMAN	H	258	ENSP00000321449:R258H	ENSP00000321449:R258H	R	-	2	0	RRP7A	41238930	1.000000	0.71417	0.998000	0.56505	0.594000	0.36715	4.884000	0.63135	0.699000	0.31761	0.411000	0.27672	CGC		0.657	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703		17	22	0	0	0	1	0	17	22					T	42908986	C	T	42908986	3	4	435	1	0	0	0	0	1	0	0	0	13689	768	27	1	73	1	RRP7A	22	42908986	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	302883	42908986	8395580	8980	29905											
A4GALT	53947	broad.mit.edu	37	chr22	43089480	43089480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgcccctgcacggccgCgtaccagtcggccaggggtg	5	4	15	17	5	0	0	0	0	0	0	1	0	0	0	6	4	3	2	6	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:43089480C>T	ENST00000401850.1	-	2	967	c.478G>A	c.(478-480)Gcg>Acg	p.A160T	A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000249005.2_Missense_Mutation_p.A160T|A4GALT_ENST00000381278.3_Missense_Mutation_p.A160T			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	160					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						TGCACGGCCGCGTACCAGTCG	0.662																																						ENST00000401850.1																			0				NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						c.(478-480)Gcg>Acg		alpha 1,4-galactosyltransferase							40	44	43					22																	43089480		2203	4299	6502	SO:0001583	missense	53947				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	g.chr22:43089480C>T		CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"Gb3 synthase", "CD77 synthase", "globotriaosylceramide synthase", "lactosylceramide 4-alpha-galactosyltransferase"	607922	"alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.478G>A	22.37:g.43089480C>T	ENSP00000384794:p.Ala160Thr					A4GALT_ENST00000249005.2_Missense_Mutation_p.A160T|A4GALT_ENST00000381278.3_Missense_Mutation_p.A160T	p.A160T			Q9NPC4	A4GAT_HUMAN			2	967	-			160					B2R7C4|Q9P1X5	Missense_Mutation	SNP	ENST00000401850.1	37	c.478G>A	CCDS14041.1	.	.	.	.	.	.	.	.	.	.	C	1.513	-0.549010	0.04024	.	.	ENSG00000128274	ENST00000401850;ENST00000249005;ENST00000381278;ENST00000535654	T;T;T	0.80033	-1.33;-1.33;-1.33	5.29	-2.48	0.06423	Glycosyltransferase, DXD sugar-binding motif (1);	0.778718	0.11009	N	0.609705	T	0.54287	0.1849	N	0.12961	0.28	0.09310	N	0.999999	B	0.09022	0.002	B	0.08055	0.003	T	0.38067	-0.9678	10	0.12430	T	0.62	-7.4548	1.0441	0.01565	0.3265:0.3023:0.093:0.2781	.	160	Q9NPC4	A4GAT_HUMAN	T	160	ENSP00000384794:A160T;ENSP00000249005:A160T;ENSP00000370678:A160T	ENSP00000249005:A160T	A	-	1	0	A4GALT	41419424	0.000000	0.05858	0.020000	0.16555	0.014000	0.08584	-1.366000	0.02585	-0.275000	0.09219	-0.224000	0.12420	GCG		0.662	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436		13	35	0	0	0	1	0	13	35					T	43089480	C	T	43089480	3	4	435	1	0	0	0	0	1	0	0	0	6	768	27	1	587	1	A4GALT	22	43089480	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	180494	43089480	8215086	8981	29906											
A4GALT	53947	broad.mit.edu	37	chr22	43089595	43089595	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtgccggggcagagaggcGttgccacccggaagcccttt	7	6	16	12	3	0	1	0	0	0	1	0	3	0	2	4	5	3	2	4	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:43089595G>A	ENST00000401850.1	-	2	852	c.363C>T	c.(361-363)aaC>aaT	p.N121N	A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000249005.2_Silent_p.N121N|A4GALT_ENST00000381278.3_Silent_p.N121N			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	121					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GCAGAGAGGCGTTGCCACCCG	0.637																																						ENST00000401850.1																			0				NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						c.(361-363)aaC>aaT		alpha 1,4-galactosyltransferase							82	90	87					22																	43089595		2203	4300	6503	SO:0001819	synonymous_variant	53947				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	g.chr22:43089595G>A		CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"Gb3 synthase", "CD77 synthase", "globotriaosylceramide synthase", "lactosylceramide 4-alpha-galactosyltransferase"	607922	"alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.363C>T	22.37:g.43089595G>A						A4GALT_ENST00000249005.2_Silent_p.N121N|A4GALT_ENST00000381278.3_Silent_p.N121N	p.N121N			Q9NPC4	A4GAT_HUMAN			2	852	-			121					B2R7C4|Q9P1X5	Silent	SNP	ENST00000401850.1	37	c.363C>T	CCDS14041.1																																																																																				0.637	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436		39	47	0	0	0	1	0	39	47					A	43089595	G	A	43089595	2	1	435	1	0	0	0	0	0	0	0	1	6	1136	40	1		1	A4GALT	22	43089595	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	115	43089595	8214971	8982	29907											
TTLL1	25809	broad.mit.edu	37	chr22	43442572	43442572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggacgtgagagacggggacGcattcacctgtgagatgaaa	12	7	15	7	3	1	4	1	3	0	2	1	8	1	6	1	3	0	1	1	3	1	1	rs202042134		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:43442572G>A	ENST00000266254.7	-	10	1226	c.986C>T	c.(985-987)gCg>gTg	p.A329V	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000331018.7_Missense_Mutation_p.A300V	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	329	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		AGACGGGGACGCATTCACCTG	0.507																																						ENST00000331018.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(898-900)gCg>gTg		tubulin tyrosine ligase-like family, member 1							245	213	223					22																	43442572		2203	4300	6503	SO:0001583	missense	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43442572G>A	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.986C>T	22.37:g.43442572G>A	ENSP00000266254:p.Ala329Val					AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000266254.7_Missense_Mutation_p.A329V	p.A300V			O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	9	1139	-		Ovarian(80;0.0694)	329			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	ENST00000266254.7	37	c.899C>T	CCDS14043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.7|29.7	5.025647|5.025647	0.93518|0.93518	.|.	.|.	ENSG00000100271|ENSG00000100271	ENST00000331018;ENST00000266254|ENST00000495814	T;T|.	0.07908|.	3.32;3.15|.	5.54|5.54	3.47|3.47	0.39725|0.39725	ATP-grasp fold, subdomain 2 (1);|.	0.115539|.	0.64402|.	D|.	0.000015|.	T|T	0.73528|0.73528	0.3598|0.3598	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79108|.	0.99;0.992|.	T|T	0.73639|0.73639	-0.3919|-0.3919	10|5	0.27785|.	T|.	0.31|.	.|.	12.0411|12.0411	0.53454|0.53454	0.1399:0.0:0.8601:0.0|0.1399:0.0:0.8601:0.0	.|.	300;329|.	O95922-4;O95922|.	.;TTLL1_HUMAN|.	V|C	300;329|255	ENSP00000333734:A300V;ENSP00000266254:A329V|.	ENSP00000266254:A329V|.	A|R	-|-	2|1	0|0	TTLL1|TTLL1	41772516|41772516	1.000000|1.000000	0.71417|0.71417	0.013000|0.013000	0.15412|0.15412	0.471000|0.471000	0.32888|0.32888	9.777000|9.777000	0.99008|0.99008	0.721000|0.721000	0.32231|0.32231	0.549000|0.549000	0.68633|0.68633	GCG|CGT		0.507	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		23	40	0	0	0	1	0	23	40					A	43442572	G	A	43442572	3	1	435	1	0	0	0	0	1	0	0	0	16719	1087	38	1	293	1	TTLL1	22	43442572	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	352977	43442572	7861994	8983	29908											
SCUBE1	80274	broad.mit.edu	37	chr22	43654236	43654236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctacttaccgatgcacgtgCgaccgtctgagtggagggcg	7	8	14	12	5	1	1	0	1	1	0	1	4	1	2	3	2	4	1	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:43654236C>T	ENST00000360835.4	-	6	842	c.716G>A	c.(715-717)cGc>cAc	p.R239H	SCUBE1_ENST00000290460.7_Missense_Mutation_p.R239H	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	239	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GATGCACGTGCGACCGTCTGA	0.647																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(715-717)cGc>cAc		signal peptide, CUB domain, EGF-like 1							121	94	103					22																	43654236		2203	4300	6503	SO:0001583	missense	80274				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	g.chr22:43654236C>T		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.716G>A	22.37:g.43654236C>T	ENSP00000354080:p.Arg239His					SCUBE1_ENST00000290460.7_Missense_Mutation_p.R239H	p.R239H	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			6	842	-		all_neural(38;0.0414)|Ovarian(80;0.07)	239			EGF-like 6 (Potential).		Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.716G>A	CCDS14048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.12|15.12	2.739533|2.739533	0.49045|0.49045	.|.	.|.	ENSG00000159307|ENSG00000159307	ENST00000381243|ENST00000360835;ENST00000434132;ENST00000290460	.|T;T	.|0.31510	.|1.49;1.49	4.76|4.76	3.72|3.72	0.42706|0.42706	.|Epidermal growth factor-like (1);	.|0.256580	.|0.37261	.|N	.|0.002168	T|T	0.23289|0.23289	0.0563|0.0563	L|L	0.28400|0.28400	0.85|0.85	0.48185|0.48185	D|D	0.9996|0.9996	.|B;B	.|0.16166	.|0.012;0.016	.|B;B	.|0.15870	.|0.005;0.014	T|T	0.05468|0.05468	-1.0883|-1.0883	6|10	0.87932|0.59425	D|D	0|0.04	.|.	12.0674|12.0674	0.53596|0.53596	0.0:0.9141:0.0:0.0859|0.0:0.9141:0.0:0.0859	.|.	.|239;239	.|B1AH90;Q8IWY4	.|.;SCUB1_HUMAN	T|H	32|239	.|ENSP00000354080:R239H;ENSP00000290460:R239H	ENSP00000370642:A32T|ENSP00000290460:R239H	A|R	-|-	1|2	0|0	SCUBE1|SCUBE1	41984180|41984180	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.218000|2.218000	0.42889|0.42889	1.180000|1.180000	0.42898|0.42898	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.647	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		14	27	0	0	0	1	0	14	27					T	43654236	C	T	43654236	3	4	435	1	0	0	0	0	1	0	0	0	13944	768	27	1	2318	1	SCUBE1	22	43654236	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	211664	43654236	7650330	8984	29909											
SCUBE1	80274	broad.mit.edu	37	chr22	43716064	43716064	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtagtcattctcacactcGtcaatgtctgcaaaaggaag	13	11	8	9	1	4	0	3	0	2	0	6	1	4	1	0	1	1	2	0	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:43716064G>A	ENST00000360835.4	-	3	354	c.228C>T	c.(226-228)gaC>gaT	p.D76D	SCUBE1_ENST00000290460.7_Silent_p.D76D	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	76	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TCTCACACTCGTCAATGTCTG	0.537																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(226-228)gaC>gaT		signal peptide, CUB domain, EGF-like 1							169	136	147					22																	43716064		2203	4300	6503	SO:0001819	synonymous_variant	80274				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	g.chr22:43716064G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.228C>T	22.37:g.43716064G>A						SCUBE1_ENST00000290460.7_Silent_p.D76D	p.D76D	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			3	354	-		all_neural(38;0.0414)|Ovarian(80;0.07)	76			EGF-like 2; calcium-binding (Potential).		Q5R336	Silent	SNP	ENST00000360835.4	37	c.228C>T	CCDS14048.1																																																																																				0.537	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		16	29	0	0	0	1	0	16	29					A	43716064	G	A	43716064	2	1	435	1	0	0	0	0	0	0	0	1	13944	1136	40	1		1	SCUBE1	22	43716064	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	61828	43716064	7588502	8985	29910											
MPPED1	758	broad.mit.edu	37	chr22	43821208	43821208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcttccagccaccgcatGtgcagatgtaagtgggaccg	8	7	13	13	3	0	1	0	0	0	1	1	2	1	2	5	1	2	4	5	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:43821208G>A	ENST00000417669.2	+	2	661	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	MPPED1_ENST00000443721.1_Missense_Mutation_p.V73M|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Missense_Mutation_p.V73M|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000538182.1_Missense_Mutation_p.V106M			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	73							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCCACCGCATGTGCAGATGTA	0.657																																						ENST00000417669.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.(217-219)Gtg>Atg		metallophosphoesterase domain containing 1							35	38	37					22																	43821208		2123	4255	6378	SO:0001583	missense	758						hydrolase activity	g.chr22:43821208G>A	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"chromosome 22 open reading frame 1"	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.217G>A	22.37:g.43821208G>A	ENSP00000388137:p.Val73Met					MPPED1_ENST00000443721.1_Missense_Mutation_p.V73M|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000538182.1_Missense_Mutation_p.V106M|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Missense_Mutation_p.V73M	p.V73M			O15442	MPPD1_HUMAN			2	661	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	73					A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	c.217G>A	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336054	0.81801	.	.	ENSG00000186732	ENST00000417669;ENST00000334209;ENST00000443721;ENST00000545165;ENST00000447567;ENST00000542779;ENST00000538182	T;T;T;T;T	0.58506	0.73;0.33;0.73;0.73;0.66	5.2	5.2	0.72013	.	0.145193	0.46758	D	0.000278	T	0.65502	0.2697	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.72625	0.978;0.904	T	0.69320	-0.5176	10	0.66056	D	0.02	-29.7645	16.8942	0.86095	0.0:0.0:1.0:0.0	.	106;73	B7Z2S9;O15442	.;MPPD1_HUMAN	M	73;73;73;51;73;73;106	ENSP00000388137:V73M;ENSP00000335568:V73M;ENSP00000400686:V73M;ENSP00000444532:V73M;ENSP00000438335:V106M	ENSP00000335568:V73M	V	+	1	0	MPPED1	42151152	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.205000	0.95048	2.430000	0.82344	0.655000	0.94253	GTG		0.657	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		3	30	0	0	0	1	0	3	30					A	43821208	G	A	43821208	3	1	435	1	0	0	0	0	1	0	0	0	9741	1377	48	3	219	3	MPPED1	22	43821208	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	105144	43821208	7483358	8986	29911											
EFCAB6	64800	broad.mit.edu	37	chr22	43930616	43930617	+	Frame_Shift_Ins	INS	-	-	T																															tgtgcatcagtgagctttccINStttgcttttagcaggaggac																								rs375058836		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:43930616_43930617insT	ENST00000262726.7	-	30	4437_4438	c.4184_4185insA	c.(4183-4185)aagfs	p.K1395fs	EFCAB6-AS1_ENST00000431327.3_RNA|EFCAB6_ENST00000396231.2_Frame_Shift_Ins_p.K1243fs|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1395	Interaction with PARK7.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTGAGCTTTCCTTTGCTTTTAG	0.475																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(4183-4185)agafs		EF-hand calcium binding domain 6																																				SO:0001589	frameshift_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43930616_43930617insT	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.4185dupA	22.37:g.43930619_43930619dupT	ENSP00000262726:p.Lys1395fs					EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Frame_Shift_Ins_p.R1243fs	p.R1395fs	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			30	4437_4438	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1395			Interaction with PARK7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Frame_Shift_Ins	INS	ENST00000262726.7	37	c.4184_4185insA	CCDS14049.1																																																																																				0.475	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		32	52						32	52	---	---	---	---	T	43930617	-	T	43930616	7	5	435	1	0	1	1	0	0	0	0	0	4939	680	24	0	332	0	EFCAB6	22	43930616	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	109408	43930616	7373950	8987	29912											
EFCAB6	64800	broad.mit.edu	37	chr22	43930688	43930688	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcccgttgctctttaagtcGtattttataatgagctgctg	7	18	8	8	2	1	1	0	1	1	0	3	1	2	1	1	0	3	5	1	0	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:43930688G>A	ENST00000262726.7	-	30	4366	c.4113C>T	c.(4111-4113)taC>taT	p.Y1371Y	EFCAB6-AS1_ENST00000431327.3_RNA|EFCAB6_ENST00000396231.2_Silent_p.Y1219Y|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1371	EF-hand 15. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with PARK7.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTTTAAGTCGTATTTTATAA	0.418																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(4111-4113)taC>taT		EF-hand calcium binding domain 6							124	118	120					22																	43930688		2203	4300	6503	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43930688G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.4113C>T	22.37:g.43930688G>A						EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000396231.2_Silent_p.Y1219Y|EFCAB6_ENST00000461800.1_5'UTR	p.Y1371Y	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			30	4366	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1371			EF-hand 15.|Interaction with PARK7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.4113C>T	CCDS14049.1																																																																																				0.418	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		28	52	0	0	0	1	0	28	52					A	43930688	G	A	43930688	2	1	435	1	0	0	0	0	0	0	0	1	4939	1140	40	1		1	EFCAB6	22	43930688	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	72	43930688	7373878	8988	29913											
EFCAB6	64800	broad.mit.edu	37	chr22	43936214	43936214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccttggcattgactggCatctcgttccagagtctgtc	5	13	9	14	1	2	2	0	1	2	1	6	2	4	2	3	2	0	3	3	2	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:43936214C>T	ENST00000262726.7	-	28	3925	c.3672G>A	c.(3670-3672)atG>atA	p.M1224I	EFCAB6_ENST00000396231.2_Missense_Mutation_p.M1072I|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1224	EF-hand 14. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CATTGACTGGCATCTCGTTCC	0.572																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(3670-3672)atG>atA		EF-hand calcium binding domain 6							79	64	69					22																	43936214		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43936214C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3672G>A	22.37:g.43936214C>T	ENSP00000262726:p.Met1224Ile					EFCAB6_ENST00000396231.2_Missense_Mutation_p.M1072I|EFCAB6_ENST00000461800.1_5'UTR	p.M1224I	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			28	3925	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1224			EF-hand 14.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.3672G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469556	0.43839	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.77877	-1.13;-1.13	5.49	4.42	0.53409	EF-hand calcium-binding domain-containing protein 6 (1);EF-hand-like domain (1);	0.667620	0.15286	N	0.270437	T	0.72028	0.3410	M	0.65975	2.015	0.80722	D	1	B	0.24092	0.097	B	0.20955	0.032	T	0.64931	-0.6291	10	0.22706	T	0.39	-34.4394	8.8163	0.34998	0.1506:0.7696:0.0:0.0798	.	1224	Q5THR3	EFCB6_HUMAN	I	1072;1224	ENSP00000379533:M1072I;ENSP00000262726:M1224I	ENSP00000262726:M1224I	M	-	3	0	EFCAB6	42267547	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.381000	0.44336	2.731000	0.93534	0.650000	0.86243	ATG		0.572	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		29	40	0	0	0	1	0	29	40					T	43936214	C	T	43936214	3	4	435	1	0	0	0	0	1	0	0	0	4939	710	25	3	853	3	EFCAB6	22	43936214	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5526	43936214	7368352	8989	29914											
EFCAB6	64800	broad.mit.edu	37	chr22	44067925	44067925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaattatttcggccaatgCgccctgtgtctccaaggtca	9	12	9	11	2	2	1	1	1	1	0	4	1	2	1	3	2	1	0	3	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:44067925C>T	ENST00000262726.7	-	15	1821	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R371H	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	523	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCGGCCAATGCGCCCTGTGTC	0.333																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1567-1569)cGc>cAc		EF-hand calcium binding domain 6							97	91	93					22																	44067925		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44067925C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1568G>A	22.37:g.44067925C>T	ENSP00000262726:p.Arg523His					EFCAB6_ENST00000396231.2_Missense_Mutation_p.R371H	p.R523H	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			15	1821	-		Ovarian(80;0.0247)|all_neural(38;0.025)	523			EF-hand 6.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1568G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	c	5.486	0.274730	0.10403	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.29917	1.55;1.55	5.17	1.67	0.24075	EF-hand-like domain (1);	1.308090	0.05244	N	0.512777	T	0.13372	0.0324	N	0.08118	0	0.09310	N	0.999996	P	0.44521	0.837	B	0.37198	0.243	T	0.10706	-1.0618	10	0.15499	T	0.54	-2.8676	4.478	0.11753	0.6771:0.183:0.1399:0.0	.	523	Q5THR3	EFCB6_HUMAN	H	371;523	ENSP00000379533:R371H;ENSP00000262726:R523H	ENSP00000262726:R523H	R	-	2	0	EFCAB6	42399258	0.166000	0.22962	0.080000	0.20451	0.068000	0.16541	0.527000	0.22987	0.087000	0.17167	-0.272000	0.10252	CGC		0.333	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		42	46	0	0	0	1	0	42	46					T	44067925	C	T	44067925	3	4	435	1	0	0	0	0	1	0	0	0	4939	768	27	1	3009	1	EFCAB6	22	44067925	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	131711	44067925	7236641	8990	29915											
SAMM50	25813	broad.mit.edu	37	chr22	44373826	44373826	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcagttgaacaagcaactCatatttgattcagtgagtat	13	14	7	7	0	3	3	3	3	0	0	3	3	3	3	0	0	3	3	0	0	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:44373826C>T	ENST00000350028.4	+	10	1081	c.924C>T	c.(922-924)ctC>ctT	p.L308L	SAMM50_ENST00000396202.3_Silent_p.L98L	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	308					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				ACAAGCAACTCATATTTGATT	0.463																																						ENST00000350028.4																			0				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(922-924)ctC>ctT		SAMM50 sorting and assembly machinery component							74	59	64					22																	44373826		2203	4300	6503	SO:0001819	synonymous_variant	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44373826C>T	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"sorting and assembly machinery component 50 homolog (S. cerevisiae)"			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.924C>T	22.37:g.44373826C>T						SAMM50_ENST00000396202.3_Silent_p.L98L	p.L308L	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN			10	1081	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	308					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Silent	SNP	ENST00000350028.4	37	c.924C>T	CCDS14055.1																																																																																				0.463	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		4	8	0	0	0	1	0	4	8					T	44373826	C	T	44373826	2	4	435	1	0	0	0	0	0	0	0	1	13829	813	29	3		3	SAMM50	22	44373826	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	305901	44373826	6930740	8991	29916											
SAMM50	25813	broad.mit.edu	37	chr22	44377306	44377306	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctggggcggaatgttggtAcccattggtgataagccgtc	7	12	14	8	2	1	1	0	1	1	0	2	2	1	2	2	5	2	2	2	5	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:44377306A>G	ENST00000350028.4	+	11	1129	c.972A>G	c.(970-972)gtA>gtG	p.V324V	SAMM50_ENST00000396202.3_Silent_p.V114V	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	324					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GAATGTTGGTACCCATTGGTG	0.388																																						ENST00000350028.4																			0				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(970-972)gtA>gtG		SAMM50 sorting and assembly machinery component							216	192	200					22																	44377306		2203	4300	6503	SO:0001819	synonymous_variant	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44377306A>G	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"sorting and assembly machinery component 50 homolog (S. cerevisiae)"			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.972A>G	22.37:g.44377306A>G						SAMM50_ENST00000396202.3_Silent_p.V114V	p.V324V	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN			11	1129	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	324					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Silent	SNP	ENST00000350028.4	37	c.972A>G	CCDS14055.1																																																																																				0.388	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		9	88	0	0	0	1	0	9	88					G	44377306	A	G	44377306	2	3	435	1	0	0	0	0	0	0	0	1	13829	378	14	4		4	SAMM50	22	44377306	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	3480	44377306	6927260	8992	29917											
PARVG	64098	broad.mit.edu	37	chr22	44585032	44585032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaagcagaggacatcGccctgacagccacaagccag	13	3	12	13	1	0	2	0	1	0	1	1	4	0	4	3	2	4	2	3	2	2	0	rs200000493		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:44585032G>A	ENST00000444313.3	+	6	770	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	PARVG_ENST00000415224.1_Missense_Mutation_p.A96T|PARVG_ENST00000422871.1_Missense_Mutation_p.A96T	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	96	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				AGAGGACATCGCCCTGACAGC	0.652																																						ENST00000422871.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(286-288)Gcc>Acc		parvin, gamma							105	93	97					22																	44585032		2203	4300	6503	SO:0001583	missense	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44585032G>A	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"Parvins"	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.286G>A	22.37:g.44585032G>A	ENSP00000391583:p.Ala96Thr					PARVG_ENST00000444313.2_Missense_Mutation_p.A96T|PARVG_ENST00000415224.1_Missense_Mutation_p.A96T	p.A96T	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN			6	710	+		Ovarian(80;0.024)|all_neural(38;0.0299)	96			CH 1.		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	37	c.286G>A	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	G	6.297	0.422888	0.11928	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	D;D;D	0.94862	-3.54;-3.54;-3.54	4.86	2.71	0.32032	Calponin homology domain (4);	0.066647	0.64402	D	0.000012	D	0.87981	0.6315	N	0.26130	0.795	0.42608	D	0.993305	D	0.55172	0.97	P	0.47118	0.538	D	0.84913	0.0849	10	0.02654	T	1	-19.638	7.1608	0.25662	0.093:0.0:0.7309:0.1761	.	96	Q9HBI0	PARVG_HUMAN	T	96	ENSP00000391453:A96T;ENSP00000391583:A96T;ENSP00000416761:A96T	ENSP00000349378:A96T	A	+	1	0	PARVG	42916365	0.962000	0.33011	0.008000	0.14137	0.331000	0.28603	2.592000	0.46171	0.418000	0.25898	0.555000	0.69702	GCC		0.652	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		20	32	0	0	0	1	0	20	32					A	44585032	G	A	44585032	3	1	435	1	0	0	0	0	1	0	0	0	11470	1087	38	1	300	1	PARVG	22	44585032	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	207726	44585032	6719534	8993	29918											
KIAA1644	85352	broad.mit.edu	37	chr22	44681532	44681532	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtagaccttgcagatgtcGtagttcattgccgagtaata	11	12	11	7	2	1	2	1	0	0	2	2	3	1	2	2	1	2	5	2	1	4	7	rs201344135		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:44681532G>A	ENST00000381176.4	-	4	507	c.375C>T	c.(373-375)taC>taT	p.Y125Y		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	125						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TGCAGATGTCGTAGTTCATTG	0.572																																						ENST00000381176.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(373-375)taC>taT		KIAA1644		G		1,4079		0,1,2039	172	167	169		375	3	1	22		169	0,8410		0,0,4205	no	coding-synonymous	KIAA1644	NM_001099294.1		0,1,6244	AA,AG,GG		0.0,0.0245,0.0080		125/200	44681532	1,12489	2040	4205	6245	SO:0001819	synonymous_variant	85352					integral to membrane		g.chr22:44681532G>A	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.375C>T	22.37:g.44681532G>A							p.Y125Y	NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN			4	507	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	125					A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Silent	SNP	ENST00000381176.4	37	c.375C>T	CCDS43025.1																																																																																				0.572	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		28	133	0	0	0	1	0	28	133					A	44681532	G	A	44681532	2	1	435	1	0	0	0	0	0	0	0	1	8250	1140	40	1		1	KIAA1644	22	44681532	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	96500	44681532	6623034	8994	29919											
KIAA1644	85352	broad.mit.edu	37	chr22	44692748	44692748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtatggttcacagacccGgaaatgtgcagacaagactg	12	9	12	8	1	1	3	1	0	0	3	1	4	1	4	1	2	1	3	1	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:44692748G>A	ENST00000381176.4	-	3	217	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	29						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TCACAGACCCGGAAATGTGCA	0.592																																						ENST00000381176.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(85-87)Cgg>Tgg		KIAA1644							93	105	101					22																	44692748		2005	4187	6192	SO:0001583	missense	85352					integral to membrane		g.chr22:44692748G>A	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.85C>T	22.37:g.44692748G>A	ENSP00000370568:p.Arg29Trp						p.R29W	NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN			3	217	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	29					A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	ENST00000381176.4	37	c.85C>T	CCDS43025.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072460	0.76415	.	.	ENSG00000138944	ENST00000381176	.	.	.	5.14	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.65626	0.2709	L	0.32530	0.975	0.44073	D	0.996829	D	0.89917	1.0	D	0.91635	0.999	T	0.74529	-0.3635	8	0.87932	D	0	-28.1161	14.1163	0.65156	0.0:0.0:0.8495:0.1505	.	29	Q3SXP7	K1644_HUMAN	W	29	.	ENSP00000370568:R29W	R	-	1	2	KIAA1644	43024081	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.856000	0.69518	2.374000	0.81015	0.462000	0.41574	CGG		0.592	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		31	49	0	0	0	1	0	31	49					A	44692748	G	A	44692748	3	1	435	1	0	0	0	0	1	0	0	0	8250	1115	39	2	526	2	KIAA1644	22	44692748	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11216	44692748	6611818	8995	29920											
LDOC1L	84247	broad.mit.edu	37	chr22	44892880	44892880	+	Missense_Mutation	SNP	C	C	T																															aagtcttcctgatttgggcgCgccgcgcatgccggagcgga																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:44892880C>T	ENST00000341255.3	-	2	1066	c.557G>A	c.(556-558)cGc>cAc	p.R186H		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	186										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		GATTTGGGCGCGCCGCGCATG	0.627																																						ENST00000341255.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11						c.(556-558)cGc>cAc		leucine zipper, down-regulated in cancer 1-like							31	34	33					22																	44892880		2202	4300	6502	SO:0001583	missense	84247							g.chr22:44892880C>T	CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.557G>A	22.37:g.44892880C>T	ENSP00000340434:p.Arg186His						p.R186H	NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN		LUAD - Lung adenocarcinoma(64;0.0161)	2	1066	-		Ovarian(80;0.024)|all_neural(38;0.0416)	186					Q6ZTR1	Missense_Mutation	SNP	ENST00000341255.3	37	c.557G>A	CCDS33662.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185950	0.78789	.	.	ENSG00000188636	ENST00000341255	T	0.19806	2.12	3.22	3.22	0.36961	.	0.836729	0.09983	N	0.730766	T	0.24661	0.0598	N	0.14661	0.345	0.30353	N	0.784544	D	0.63880	0.993	P	0.60117	0.869	T	0.12116	-1.0560	10	0.48119	T	0.1	-8.6904	10.2051	0.43107	0.0:1.0:0.0:0.0	.	186	Q6ICC9	LDOCL_HUMAN	H	186	ENSP00000340434:R186H	ENSP00000340434:R186H	R	-	2	0	LDOC1L	43271544	0.968000	0.33430	0.988000	0.46212	0.770000	0.43624	3.073000	0.50057	2.104000	0.64026	0.585000	0.79938	CGC		0.627	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287		6	6	0	0	0	1	0	6	6					T	44892880	C	T	44892880	3	4	435	1	0	0	0	0	1	0	0	0	8710	768	27	1	166	1	LDOC1L	22	44892880	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	200132	44892880	6411686	8996	29921	142	2									
LDOC1L	84247	broad.mit.edu	37	chr22	44892885	44892885	+	Silent	SNP	C	C	T																															ttcctgatttgggcgcgccgCgcatgccggagcggagactt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:44892885C>T	ENST00000341255.3	-	2	1061	c.552G>A	c.(550-552)gcG>gcA	p.A184A		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	184										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		GGGCGCGCCGCGCATGCCGGA	0.632																																						ENST00000341255.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11						c.(550-552)gcG>gcA		leucine zipper, down-regulated in cancer 1-like							33	36	35					22																	44892885		2202	4300	6502	SO:0001819	synonymous_variant	84247							g.chr22:44892885C>T	CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.552G>A	22.37:g.44892885C>T							p.A184A	NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN		LUAD - Lung adenocarcinoma(64;0.0161)	2	1061	-		Ovarian(80;0.024)|all_neural(38;0.0416)	184					Q6ZTR1	Silent	SNP	ENST00000341255.3	37	c.552G>A	CCDS33662.1																																																																																				0.632	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287		5	6	0	0	0	1	0	5	6					T	44892885	C	T	44892885	2	4	435	1	0	0	0	0	0	0	0	1	8710	755	27	1		1	LDOC1L	22	44892885	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5	44892885	6411681	8997	29922	142	2									
PRR5-ARHGAP8	23779	broad.mit.edu	37	chr22	45182350	45182350	+	5'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcagagctgcagagagaCaaggcggcggcggctgctgt	8	4	18	11	4	0	3	0	0	0	3	0	4	0	3	1	4	3	5	1	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:45182350C>T	ENST00000389774.2	+	0	84				PRR5-ARHGAP8_ENST00000352766.7_Silent_p.D235D|ARHGAP8_ENST00000356099.6_5'UTR|ARHGAP8_ENST00000517296.3_Silent_p.D235D|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.D112D|ARHGAP8_ENST00000336963.4_5'UTR|ARHGAP8_ENST00000469872.1_3'UTR|ARHGAP8_ENST00000389773.5_Silent_p.D103D	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8						positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		TGCAGAGAGACAAGGCGGCGG	0.592																																						ENST00000352766.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						c.(703-705)gaC>gaT									19	27	24					22																	45182350		1327	2309	3636	SO:0001623	5_prime_UTR_variant	0							g.chr22:45182350C>T	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"Rho GTPase activating proteins"	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.-58C>T	22.37:g.45182350C>T						ARHGAP8_ENST00000469872.1_3'UTR|ARHGAP8_ENST00000356099.6_5'UTR|ARHGAP8_ENST00000336963.4_5'UTR|ARHGAP8_ENST00000389773.5_Silent_p.D103D|ARHGAP8_ENST00000517296.3_Silent_p.D235D|ARHGAP8_ENST00000389774.2_5'UTR|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.D112D	p.D235D							8	705	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000389774.2	37	c.705C>T	CCDS33664.1	.	.	.	.	.	.	.	.	.	.	C	5.773	0.327043	0.10900	.	.	ENSG00000248405	ENST00000515632	.	.	.	2.33	-0.0481	0.13840	.	.	.	.	.	T	0.23846	0.0577	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26155	-1.0111	4	.	.	.	.	4.5669	0.12191	0.0:0.5205:0.0:0.4795	.	.	.	.	I	35	.	.	T	+	2	0	PRR5-ARHGAP8	43561014	0.078000	0.21339	0.043000	0.18650	0.327000	0.28475	-0.789000	0.04609	-0.023000	0.13963	0.543000	0.68304	ACA		0.592	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		3	0	0	0	0	1	0	3	0					T	45182350	C	T	45182350	1	4	435	0	1	0	0	0	0	0	0	0	12601	477	17	3		3	PRR5-ARHGAP8	22	45182350	5'UTR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	289465	45182350	6122216	8998	29923											
ARHGAP8	23779	broad.mit.edu	37	chr22	45244820	45244820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtgtgcagggaagcccGtgaactttgacgactacggg	8	10	15	8	3	0	2	0	2	0	0	0	4	0	3	1	2	4	1	1	2	3	3	rs112956019		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:45244820G>A	ENST00000389774.2	+	11	991	c.850G>A	c.(850-852)Gtg>Atg	p.V284M	PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.V463M|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V253M|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.V463M|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.V384M|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V253M|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V375M	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	284	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		AGGGAAGCCCGTGAACTTTGA	0.612																																						ENST00000352766.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						c.(1387-1389)Gtg>Atg									187	143	158					22																	45244820		2203	4300	6503	SO:0001583	missense	0							g.chr22:45244820G>A	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"Rho GTPase activating proteins"	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.850G>A	22.37:g.45244820G>A	ENSP00000374424:p.Val284Met					ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V253M|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V253M|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V375M|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.V463M|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.V284M|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.V384M	p.V463M							15	1387	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	c.1387G>A	CCDS33664.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637265	0.67130	.	.	ENSG00000248405;ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484	ENST00000361473;ENST00000352766;ENST00000517296;ENST00000389773;ENST00000389774;ENST00000336963;ENST00000356099	T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83	3.84	3.84	0.44239	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.31897	U	0.006882	T	0.71467	0.3343	M	0.88105	2.93	0.45852	D	0.998719	D;D;D;D;D;D;D	0.89917	0.998;0.984;0.998;0.999;0.991;1.0;0.999	P;P;P;D;P;D;P	0.91635	0.879;0.831;0.568;0.923;0.779;0.999;0.901	T	0.77827	-0.2443	10	0.72032	D	0.01	.	12.7531	0.57320	0.0:0.0:1.0:0.0	.	289;253;289;284;294;463;384	B7ZMA4;A6ZJ79;A2RU51;P85298;Q6PCC7;B1AHC4;B1AHC3	.;.;.;RHG08_HUMAN;.;.;.	M	384;463;463;375;284;253;253	ENSP00000354732:V384M;ENSP00000262731:V463M;ENSP00000429240:V463M;ENSP00000374423:V375M;ENSP00000374424:V284M;ENSP00000337287:V253M;ENSP00000348407:V253M	ENSP00000337287:V253M	V	+	1	0	PRR5-ARHGAP8;ARHGAP8	43623484	1.000000	0.71417	0.998000	0.56505	0.534000	0.34807	7.582000	0.82546	1.970000	0.57323	0.467000	0.42956	GTG		0.612	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		30	51	0	0	0	1	0	30	51					A	45244820	G	A	45244820	3	1	435	1	0	0	0	0	1	0	0	0	888	1145	40	1	888	1	ARHGAP8	22	45244820	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62470	45244820	6059746	8999	29924											
PHF21B	112885	broad.mit.edu	37	chr22	45312240	45312240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtgctgggggccatggCggcggcattgctgggggagg	3	6	24	8	3	0	0	0	0	0	0	0	1	0	1	1	10	2	3	1	10	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:45312240C>T	ENST00000313237.5	-	4	634	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	PHF21B_ENST00000396103.3_Missense_Mutation_p.A162T|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000447824.3_Missense_Mutation_p.A150T|PHF21B_ENST00000404079.2_Missense_Mutation_p.A150T	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	162							zinc ion binding (GO:0008270)			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)		GGGGCCATGGCGGCGGCATTG	0.687																																						ENST00000313237.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25						c.(484-486)Gcc>Acc		PHD finger protein 21B							22	28	26					22																	45312240		2202	4297	6499	SO:0001583	missense	112885						zinc ion binding	g.chr22:45312240C>T	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.484G>A	22.37:g.45312240C>T	ENSP00000324403:p.Ala162Thr					PHF21B_ENST00000396103.3_Missense_Mutation_p.A162T|PHF21B_ENST00000447824.3_Missense_Mutation_p.A150T|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.A150T	p.A162T	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	4	634	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	162					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	ENST00000313237.5	37	c.484G>A	CCDS14061.1	.	.	.	.	.	.	.	.	.	.	C	9.653	1.141967	0.21205	.	.	ENSG00000056487	ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000420689	D;T;T;T;T	0.81499	-1.5;-1.49;-1.49;1.49;0.9	5.09	0.282	0.15692	.	0.553976	0.16409	N	0.215661	T	0.52041	0.1710	N	0.14661	0.345	0.22389	N	0.999147	B;B;B;B	0.17465	0.017;0.007;0.01;0.022	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.38200	-0.9672	10	0.02654	T	1	-24.1284	0.645	0.00816	0.1654:0.2757:0.2603:0.2987	.	150;162;150;162	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2	.;.;.;PF21B_HUMAN	T	162;162;150;150;150	ENSP00000324403:A162T;ENSP00000379410:A162T;ENSP00000385105:A150T;ENSP00000388619:A150T;ENSP00000401294:A150T	ENSP00000324403:A162T	A	-	1	0	PHF21B	43690904	0.171000	0.23029	0.989000	0.46669	0.929000	0.56500	-0.090000	0.11163	0.172000	0.19760	0.655000	0.94253	GCC		0.687	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		4	9	0	0	0	1	0	4	9					T	45312240	C	T	45312240	3	4	435	1	0	0	0	0	1	0	0	0	11834	768	27	1	1151	1	PHF21B	22	45312240	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	67420	45312240	5992326	9000	29925											
C22orf9	23313	broad.mit.edu	37	chr22	45601700	45601700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatgagattcaggcagaCgctctcctcccagtcgatgt	9	9	11	12	2	2	2	1	1	1	2	5	5	3	3	2	2	0	2	2	2	0	1	rs146302383		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:45601700C>T	ENST00000336156.5	-	3	375	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	KIAA0930_ENST00000251993.7_Missense_Mutation_p.V109I|KIAA0930_ENST00000443310.3_Missense_Mutation_p.V86I|KIAA0930_ENST00000391627.2_Missense_Mutation_p.V70I	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	104										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TTCAGGCAGACGCTCTCCTCC	0.652																																						ENST00000336156.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						c.(310-312)Gtc>Atc		KIAA0930		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	46	42	43		310,325	4.5	1	22	dbSNP_134	43	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KIAA0930	NM_001009880.1,NM_015264.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	104/405,109/410	45601700	1,13005	2203	4300	6503	SO:0001583	missense	23313						protein binding	g.chr22:45601700C>T	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 9"	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.310G>A	22.37:g.45601700C>T	ENSP00000336720:p.Val104Ile					KIAA0930_ENST00000391627.2_Missense_Mutation_p.V70I|KIAA0930_ENST00000251993.7_Missense_Mutation_p.V109I|KIAA0930_ENST00000443310.3_Missense_Mutation_p.V86I	p.V104I	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN			3	375	-			104					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.310G>A	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163268	0.94727	0.0	1.16E-4	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310;ENST00000414854;ENST00000424508	.	.	.	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.79452	0.4448	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.76494	0.999;0.959;0.966;0.992	D;B;B;P	0.74674	0.984;0.404;0.369;0.711	T	0.82886	-0.0235	9	0.66056	D	0.02	-12.7666	17.5181	0.87780	0.0:1.0:0.0:0.0	.	86;104;109;175	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	I	104;11;109;70;86;70;86	.	ENSP00000251993:V109I	V	-	1	0	KIAA0930	43980364	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.212000	0.77941	2.214000	0.71695	0.561000	0.74099	GTC		0.652	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		4	16	0	0	0	1	0	4	16					T	45601700	C	T	45601700	3	4	435	1	0	0	0	0	1	0	0	0	2151	536	19	1	936	1	C22orf9	22	45601700	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	289460	45601700	5702866	9001	29926											
FAM118A	55007	broad.mit.edu	37	chr22	45726576	45726576	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggtgctggacccatcGgggtataaagacgtcactca	9	8	15	9	2	2	1	2	0	0	1	3	2	2	2	1	6	1	2	1	6	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:45726576G>A	ENST00000216214.3	+	6	1449	c.615G>A	c.(613-615)tcG>tcA	p.S205S	FAM118A_ENST00000441876.2_Silent_p.S205S|FAM118A_ENST00000405548.3_Silent_p.S23S	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	205						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGGACCCATCGGGGTATAAAG	0.572																																						ENST00000216214.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(613-615)tcG>tcA		family with sequence similarity 118, member A							98	89	92					22																	45726576		2203	4300	6503	SO:0001819	synonymous_variant	55007					integral to membrane		g.chr22:45726576G>A	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 8"	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.615G>A	22.37:g.45726576G>A						FAM118A_ENST00000441876.2_Silent_p.S205S|FAM118A_ENST00000405548.3_Silent_p.S23S	p.S205S	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	6	1449	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	205					B3KWG4|B4DY02|Q5TII5|Q96CY3	Silent	SNP	ENST00000216214.3	37	c.615G>A	CCDS14065.1																																																																																				0.572	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		7	17	0	0	0	1	0	7	17					A	45726576	G	A	45726576	2	1	435	1	0	0	0	0	0	0	0	1	5411	1103	39	2		2	FAM118A	22	45726576	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	124876	45726576	5577990	9002	29927											
SMC1B	27127	broad.mit.edu	37	chr22	45789573	45789573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgctctcttttgctgacGttttccctcatgggtatcaa	5	17	7	12	1	4	1	2	1	2	0	6	1	5	1	1	1	2	4	1	1	2	5	rs367777287		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:45789573G>A	ENST00000357450.4	-	9	1485	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C	SMC1B_ENST00000404354.3_Missense_Mutation_p.R496C	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	496	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTTTGCTGACGTTTTCCCTCA	0.328													G|||	1	0.000199681	8e-04	0	5008	,	,		18323	0		0	False		,,,				2504	0					ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1486-1488)Cgt>Tgt		structural maintenance of chromosomes 1B		G	CYS/ARG	0,3694		0,0,1847	139	124	129		1486	4.1	1	22		129	1,8203		0,1,4101	no	missense	SMC1B	NM_148674.3	180	0,1,5948	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	496/1236	45789573	1,11897	1847	4102	5949	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45789573G>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1486C>T	22.37:g.45789573G>A	ENSP00000350036:p.Arg496Cys					SMC1B_ENST00000404354.3_Missense_Mutation_p.R496C	p.R496C	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	9	1485	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	496			Flexible hinge.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.1486C>T	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947544	0.73787	0.0	1.22E-4	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.86562	-2.14;-2.14	6.16	4.08	0.47627	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.64402	D	0.000008	D	0.93621	0.7963	M	0.91249	3.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93653	0.6975	10	0.87932	D	0	.	8.2364	0.31629	0.1308:0.0:0.7432:0.126	.	496;496;496	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	C	496	ENSP00000350036:R496C;ENSP00000385902:R496C	ENSP00000350036:R496C	R	-	1	0	SMC1B	44168237	1.000000	0.71417	0.953000	0.39169	0.899000	0.52679	4.092000	0.57707	1.632000	0.50472	-0.142000	0.14014	CGT		0.328	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		9	69	0	0	0	1	0	9	69					A	45789573	G	A	45789573	3	1	435	1	0	0	0	0	1	0	0	0	14782	1145	40	1	2289	1	SMC1B	22	45789573	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62997	45789573	5514993	9003	29928											
FBLN1	2192	broad.mit.edu	37	chr22	45944611	45944611	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacaggctggcccccaatggCcgcaactgccaaggtgagca	10	5	12	14	1	0	1	0	1	0	0	0	1	0	1	4	4	4	3	4	4	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:45944611C>T	ENST00000327858.6	+	13	1655	c.1560C>T	c.(1558-1560)ggC>ggT	p.G520G	FBLN1_ENST00000340923.5_Silent_p.G520G|FBLN1_ENST00000442170.2_Silent_p.G520G|FBLN1_ENST00000348697.2_Silent_p.G520G|FBLN1_ENST00000402984.3_Silent_p.G558G|FBLN1_ENST00000262722.7_Silent_p.G520G|FBLN1_ENST00000476366.1_Intron	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	520	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCCCCAATGGCCGCAACTGCC	0.672																																						ENST00000348697.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(1558-1560)ggC>ggT		fibulin 1							54	42	46					22																	45944611		2203	4300	6503	SO:0001819	synonymous_variant	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45944611C>T		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1560C>T	22.37:g.45944611C>T						FBLN1_ENST00000402984.3_Silent_p.G558G|FBLN1_ENST00000327858.6_Silent_p.G520G|FBLN1_ENST00000262722.7_Silent_p.G520G|FBLN1_ENST00000476366.1_Intron|FBLN1_ENST00000340923.5_Silent_p.G520G|FBLN1_ENST00000442170.2_Silent_p.G520G	p.G520G			P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	13	1707	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	520			EGF-like 8; calcium-binding.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Silent	SNP	ENST00000327858.6	37	c.1560C>T	CCDS14067.1																																																																																				0.672	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		5	12	0	0	0	1	0	5	12					T	45944611	C	T	45944611	2	4	435	1	0	0	0	0	0	0	0	1	5698	726	26	3		3	FBLN1	22	45944611	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	155038	45944611	5359955	9004	29929											
FBLN1	2192	broad.mit.edu	37	chr22	45958962	45958962	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catgcagctggccatcaccgGcggcaatgaggagggctttt	8	8	14	11	2	1	1	1	1	0	0	1	2	1	2	2	5	2	4	2	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:45958962G>A	ENST00000327858.6	+	15	1792				FBLN1_ENST00000442170.2_Intron|FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000402984.3_Missense_Mutation_p.G661D|FBLN1_ENST00000262722.7_Missense_Mutation_p.G623D	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1						embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCCATCACCGGCGGCAATGAG	0.662																																						ENST00000402984.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(1981-1983)gGc>gAc		fibulin 1							45	52	50					22																	45958962		2203	4300	6503	SO:0001627	intron_variant	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45958962G>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1698-11429G>A	22.37:g.45958962G>A						FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000262722.7_Missense_Mutation_p.G623D|FBLN1_ENST00000442170.2_Intron	p.G661D			P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	16	2085	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	638					B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.1982G>A	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	6.392	0.440448	0.12104	.	.	ENSG00000077942	ENST00000402984;ENST00000262722	D;D	0.85556	-2.0;-1.88	5.0	1.69	0.24217	.	.	.	.	.	T	0.60508	0.2274	N	0.01352	-0.895	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.001;0.003	T	0.51772	-0.8663	9	0.24483	T	0.36	.	7.4332	0.27139	0.1556:0.1437:0.7007:0.0	.	661;623	B1AHL2;P23142-4	.;.	D	661;623	ENSP00000385521:G661D;ENSP00000262722:G623D	ENSP00000262722:G623D	G	+	2	0	FBLN1	44337626	0.050000	0.20438	0.007000	0.13788	0.927000	0.56198	1.514000	0.35834	0.482000	0.27582	0.467000	0.42956	GGC		0.662	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		17	24	0	0	0	1	0	17	24					A	45958962	G	A	45958962	1	1	435	0	1	0	0	0	0	0	0	0	5698	1203	42	3		3	FBLN1	22	45958962	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14351	45958962	5345604	9005	29930											
PKDREJ	10343	broad.mit.edu	37	chr22	46657945	46657945	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagaaatacacgtggtcGcctttaagtgtttctggcaa	11	12	10	8	2	1	2	0	1	1	1	2	2	1	2	1	2	1	2	1	2	5	4	rs377483844		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:46657945G>A	ENST00000253255.5	-	1	1274	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	425	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			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)		ACACGTGGTCGCCTTTAAGTG	0.532																																						ENST00000253255.5																			0				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						c.(1273-1275)ggC>ggT		polycystin (PKD) family receptor for egg jelly		G		1,4405	2.1+/-5.4	0,1,2202	97	98	97		1275	-10.3	0	22		97	0,8600		0,0,4300	no	coding-synonymous	PKDREJ	NM_006071.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		425/2254	46657945	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46657945G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1275C>T	22.37:g.46657945G>A							p.G425G	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1274	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	425			REJ.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.1275C>T	CCDS14073.1																																																																																				0.532	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		15	64	0	0	0	1	0	15	64					A	46657945	G	A	46657945	2	1	435	1	0	0	0	0	0	0	0	1	11970	1074	38	1		1	PKDREJ	22	46657945	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	698983	46657945	4646621	9006	29931											
PKDREJ	10343	broad.mit.edu	37	chr22	46658026	46658026	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcctgctcggggtgacaGacttccttgctccccaggat	5	11	12	13	1	0	2	0	1	0	1	3	3	2	3	4	4	2	2	4	4	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:46658026G>T	ENST00000253255.5	-	1	1193	c.1194C>A	c.(1192-1194)gtC>gtA	p.V398V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	398	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			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)		CGGGGTGACAGACTTCCTTGC	0.532																																						ENST00000253255.5																			0				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						c.(1192-1194)gtC>gtA		polycystin (PKD) family receptor for egg jelly							89	94	92					22																	46658026		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658026G>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1194C>A	22.37:g.46658026G>T							p.V398V	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1193	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	398			REJ.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.1194C>A	CCDS14073.1																																																																																				0.532	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		28	62	1	0	4.87955e-14	1	5.31433e-14	28	62					T	46658026	G	T	46658026	2	4	435	1	0	0	0	0	0	0	0	1	11970	929	33	5		5	PKDREJ	22	46658026	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	81	46658026	4646540	9007	29932											
TRMU	55687	broad.mit.edu	37	chr22	46752742	46752742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtctctcccctacagtttGctgtgttctacaagggggac	6	12	12	11	0	2	0	0	0	2	0	4	1	3	1	2	3	3	3	2	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:46752742G>A	ENST00000290846.4	+	11	1445	c.1105G>A	c.(1105-1107)Gct>Act	p.A369T	TRMU_ENST00000381019.3_Missense_Mutation_p.C341Y	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	369					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CCTACAGTTTGCTGTGTTCTA	0.672																																						ENST00000290846.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(1105-1107)Gct>Act		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase							77	78	78					22																	46752742		2203	4300	6503	SO:0001583	missense	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46752742G>A	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase "	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.1105G>A	22.37:g.46752742G>A	ENSP00000290846:p.Ala369Thr					TRMU_ENST00000381019.3_Missense_Mutation_p.C341Y	p.A369T	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	11	1445	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	369					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	ENST00000290846.4	37	c.1105G>A	CCDS14075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.932953|3.932953	0.73442|0.73442	.|.	.|.	ENSG00000100416|ENSG00000100416	ENST00000290846|ENST00000381019	T|T	0.73575|0.71461	-0.76|-0.57	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84611|0.84611	0.5510|0.5510	H|H	0.96301|0.96301	3.8|3.8	0.80722|0.80722	D|D	1|1	D;D|D;P	0.89917|0.57899	1.0;1.0|0.981;0.875	D;D|P;B	0.91635|0.49953	0.999;0.992|0.627;0.424	D|D	0.90774|0.90774	0.4674|0.4674	10|9	0.87932|0.87932	D|D	0|0	-17.0469|-17.0469	16.7599|16.7599	0.85509|0.85509	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	215;369|187;341	O75648-4;O75648|O75648-3;O75648-2	.;MTU1_HUMAN|.;.	T|Y	369|341	ENSP00000290846:A369T|ENSP00000370407:C341Y	ENSP00000290846:A369T|ENSP00000370407:C341Y	A|C	+|+	1|2	0|0	TRMU|TRMU	45131406|45131406	1.000000|1.000000	0.71417|0.71417	0.548000|0.548000	0.28192|0.28192	0.057000|0.057000	0.15508|0.15508	8.879000|8.879000	0.92398|0.92398	2.122000|2.122000	0.65172|0.65172	0.491000|0.491000	0.48974|0.48974	GCT|TGC		0.672	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		29	55	0	0	0	1	0	29	55					A	46752742	G	A	46752742	3	1	435	1	0	0	0	0	1	0	0	0	16568	1319	46	3	1147	3	TRMU	22	46752742	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	94716	46752742	4551824	9008	29933											
CELSR1	9620	broad.mit.edu	37	chr22	46929866	46929866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaccagcacatactcccGccggacctcaaagtccagct	11	5	6	19	2	1	0	1	0	0	0	3	1	3	1	6	1	3	2	6	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:46929866G>A	ENST00000262738.3	-	1	3201	c.3202C>T	c.(3202-3204)Cgg>Tgg	p.R1068W	CELSR1_ENST00000395964.1_Missense_Mutation_p.R1068W|CELSR1_ENST00000497509.1_5'UTR	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1068	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			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)		ACATACTCCCGCCGGACCTCA	0.612																																						ENST00000262738.3																			0				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						c.(3202-3204)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 1							73	71	72					22																	46929866		2203	4300	6503	SO:0001583	missense	9620				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	g.chr22:46929866G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3202C>T	22.37:g.46929866G>A	ENSP00000262738:p.Arg1068Trp					CELSR1_ENST00000497509.1_5'UTR|CELSR1_ENST00000395964.1_Missense_Mutation_p.R1068W	p.R1068W	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	3201	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1068			Cadherin 8.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.3202C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355782	0.61293	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.61627	0.09;0.09	4.63	3.6	0.41247	Cadherin (4);Cadherin-like (1);	0.501207	0.15641	U	0.251899	T	0.75280	0.3828	M	0.86651	2.83	0.27691	N	0.946105	D	0.64830	0.994	P	0.61658	0.892	T	0.68565	-0.5375	10	0.72032	D	0.01	.	11.3637	0.49660	0.0:0.0:0.3912:0.6088	.	1068	Q9NYQ6	CELR1_HUMAN	W	1068	ENSP00000262738:R1068W;ENSP00000379293:R1068W	ENSP00000262738:R1068W	R	-	1	2	CELSR1	45308530	0.009000	0.17119	0.954000	0.39281	0.916000	0.54674	1.391000	0.34475	0.842000	0.35045	0.462000	0.41574	CGG		0.612	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		15	26	0	0	0	1	0	15	26					A	46929866	G	A	46929866	3	1	435	1	0	0	0	0	1	0	0	0	3221	1086	38	1	5982	1	CELSR1	22	46929866	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	177124	46929866	4374700	9009	29934											
BRD1	23774	broad.mit.edu	37	chr22	50187716	50187716	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggccccagcgcagctccGtcctcttcgaagccttccaa	6	8	8	19	4	1	0	0	0	1	0	6	1	5	0	7	1	3	2	7	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50187716G>A	ENST00000216267.8	-	6	2811	c.2325C>T	c.(2323-2325)gaC>gaT	p.D775D	BRD1_ENST00000342989.5_Silent_p.D370D|BRD1_ENST00000404034.1_Silent_p.D775D|BRD1_ENST00000457780.2_Silent_p.D775D|BRD1_ENST00000542442.1_Silent_p.D463D|BRD1_ENST00000404760.1_Silent_p.D775D	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	775					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			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)		GCGCAGCTCCGTCCTCTTCGA	0.652																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(2323-2325)gaC>gaT		bromodomain containing 1							34	38	37					22																	50187716		2203	4300	6503	SO:0001819	synonymous_variant	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50187716G>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2325C>T	22.37:g.50187716G>A						BRD1_ENST00000342989.5_Silent_p.D370D|BRD1_ENST00000404034.1_Silent_p.D775D|BRD1_ENST00000542442.1_Silent_p.D463D|BRD1_ENST00000404760.1_Silent_p.D775D|BRD1_ENST00000457780.2_Silent_p.D775D	p.D775D	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	6	2811	-		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)	775					A6ZJA4	Silent	SNP	ENST00000216267.8	37	c.2325C>T	CCDS14080.1																																																																																				0.652	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		15	17	0	0	0	1	0	15	17					A	50187716	G	A	50187716	2	1	435	1	0	0	0	0	0	0	0	1	1501	1136	40	1		1	BRD1	22	50187716	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3257850	50187716	1116850	9010	29935											
BRD1	23774	broad.mit.edu	37	chr22	50217104	50217104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacaccacgtgaccccagcGgtcgtcatctgtctttttga	8	11	8	14	3	3	2	1	2	2	0	4	2	3	2	3	1	1	0	3	1	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50217104G>A	ENST00000216267.8	-	1	1348	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000404034.1_Missense_Mutation_p.R288C|BRD1_ENST00000457780.2_Missense_Mutation_p.R288C|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000404760.1_Missense_Mutation_p.R288C	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	288					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			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)		TGACCCCAGCGGTCGTCATCT	0.642																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(862-864)Cgc>Tgc		bromodomain containing 1							65	60	62					22																	50217104		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50217104G>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.862C>T	22.37:g.50217104G>A	ENSP00000216267:p.Arg288Cys					BRD1_ENST00000404034.1_Missense_Mutation_p.R288C|BRD1_ENST00000404760.1_Missense_Mutation_p.R288C|BRD1_ENST00000457780.2_Missense_Mutation_p.R288C	p.R288C	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1348	-		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)	288					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.862C>T	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418052	0.62622	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.61874	-0.6973	9	.	.	.	.	13.5333	0.61633	0.0:0.0:0.844:0.156	.	288;288;288	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	C	288	ENSP00000216267:R288C;ENSP00000384076:R288C;ENSP00000385858:R288C;ENSP00000410042:R288C	.	R	-	1	0	BRD1	48603108	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	4.909000	0.63314	2.388000	0.81334	0.563000	0.77884	CGC		0.642	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		20	32	0	0	0	1	0	20	32					A	50217104	G	A	50217104	3	1	435	1	0	0	0	0	1	0	0	0	1501	1116	39	2	2362	2	BRD1	22	50217104	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29388	50217104	1087462	9011	29936											
ZBED4	9889	broad.mit.edu	37	chr22	50278881	50278881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagtctggcaaactctcCgtatgccactttggcctctg	7	12	9	13	1	3	0	0	0	3	0	4	0	3	0	3	2	3	3	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50278881C>T	ENST00000216268.5	+	2	2048	c.1571C>T	c.(1570-1572)cCg>cTg	p.P524L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	524						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P524Q(1)		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)		GCAAACTCTCCGTATGCCACT	0.502																																						ENST00000216268.4																			1	Substitution - Missense(1)	p.P524Q(1)	lung(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1570-1572)cCg>cTg		zinc finger, BED-type containing 4							98	102	101					22																	50278881		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50278881C>T	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1571C>T	22.37:g.50278881C>T	ENSP00000216268:p.Pro524Leu						p.P524L	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	2048	+		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)	524					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.1571C>T	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207196	0.79127	.	.	ENSG00000100426	ENST00000216268	T	0.52057	0.68	5.76	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	L	0.34521	1.04	0.80722	D	1	P	0.39940	0.696	B	0.26969	0.075	T	0.31392	-0.9945	10	0.87932	D	0	-20.0602	14.4005	0.67041	0.0:0.9283:0.0:0.0717	.	524	O75132	ZBED4_HUMAN	L	524	ENSP00000216268:P524L	ENSP00000216268:P524L	P	+	2	0	ZBED4	48664885	1.000000	0.71417	0.207000	0.23584	0.863000	0.49368	5.537000	0.67186	1.451000	0.47736	0.591000	0.81541	CCG		0.502	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		20	84	0	0	0	1	0	20	84					T	50278881	C	T	50278881	3	4	435	1	0	0	0	0	1	0	0	0	17517	652	23	2	1573	2	ZBED4	22	50278881	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	61777	50278881	1025685	9012	29937											
ZBED4	9889	broad.mit.edu	37	chr22	50279587	50279587	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgagtcgccagcccggccGcgctgtgacgaccaccactg	6	6	12	17	6	0	1	0	1	0	0	2	3	0	1	5	1	1	1	5	1	0	1	rs113510025	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50279587G>A	ENST00000216268.5	+	2	2754	c.2277G>A	c.(2275-2277)ccG>ccA	p.P759P		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	759						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		CAGCCCGGCCGCGCTGTGACG	0.607													G|||	2	0.000399361	8e-04	0	5008	,	,		17682	0		0	False		,,,				2504	0.001					ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2275-2277)ccG>ccA		zinc finger, BED-type containing 4		G		1,4405	2.1+/-5.4	0,1,2202	34	34	34		2277	-10.9	0	22	dbSNP_132	34	0,8600		0,0,4300	no	coding-synonymous	ZBED4	NM_014838.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		759/1172	50279587	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50279587G>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2277G>A	22.37:g.50279587G>A							p.P759P	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	2754	+		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)	759					B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	37	c.2277G>A	CCDS33677.1																																																																																				0.607	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		4	16	0	0	0	1	0	4	16					A	50279587	G	A	50279587	2	1	435	1	0	0	0	0	0	0	0	1	17517	1074	38	1		1	ZBED4	22	50279587	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	706	50279587	1024979	9013	29938											
IL17REL	400935	broad.mit.edu	37	chr22	50437876	50437876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacctccaggcacaggcacGgcagctcctggctgtagggc	7	5	14	15	2	0	0	0	0	0	0	2	1	2	0	3	5	1	6	3	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50437876G>A	ENST00000389983.2	-	8	794	c.530C>T	c.(529-531)cCg>cTg	p.P177L	IL17REL_ENST00000341280.5_Missense_Mutation_p.P177L	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	177										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)		GCACAGGCACGGCAGCTCCTG	0.716																																						ENST00000389983.2																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(529-531)cCg>cTg		interleukin 17 receptor E-like							21	18	19					22																	50437876		2198	4291	6489	SO:0001583	missense	400935							g.chr22:50437876G>A	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.530C>T	22.37:g.50437876G>A	ENSP00000374633:p.Pro177Leu					IL17REL_ENST00000341280.5_Missense_Mutation_p.P177L	p.P177L	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	8	794	-		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)	177					A6NCN4|A6PVC1	Missense_Mutation	SNP	ENST00000389983.2	37	c.530C>T	CCDS33679.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508922	0.64410	.	.	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.51325	0.71;0.71	3.25	3.25	0.37280	.	0.000000	0.64402	U	0.000007	T	0.62233	0.2411	M	0.73962	2.25	0.09310	N	0.999999	D	0.67145	0.996	P	0.62089	0.898	T	0.54642	-0.8263	10	0.87932	D	0	.	10.3291	0.43812	0.0:0.0:1.0:0.0	.	177	Q6ZVW7	I17EL_HUMAN	L	177	ENSP00000374633:P177L;ENSP00000342520:P177L	ENSP00000342520:P177L	P	-	2	0	IL17REL	48780003	0.415000	0.25416	0.091000	0.20842	0.047000	0.14425	1.507000	0.35758	1.517000	0.48917	0.655000	0.94253	CCG		0.716	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		6	6	0	0	0	1	0	6	6					A	50437876	G	A	50437876	3	1	435	1	0	0	0	0	1	0	0	0	7644	1116	39	2	508	2	IL17REL	22	50437876	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	158289	50437876	866690	9014	29939											
MOV10L1	54456	broad.mit.edu	37	chr22	50547193	50547193	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacaccccggagaggtgaCgtggtcaatgcagtggtggt	9	8	15	9	2	1	2	1	1	0	1	1	3	1	2	2	5	2	1	2	5	2	1	rs376950130		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50547193C>T	ENST00000262794.5	+	5	746	c.663C>T	c.(661-663)gaC>gaT	p.D221D	MOV10L1_ENST00000545383.1_Silent_p.D221D|MOV10L1_ENST00000395858.3_Silent_p.D221D|MOV10L1_ENST00000540615.1_Silent_p.D201D|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	221					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			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)		GGAGAGGTGACGTGGTCAATG	0.517																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(661-663)gaC>gaT		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)			,,	1,4405		0,1,2202	129	113	118		663,603,663	-6.1	0	22		118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	MOV10L1	NM_001164104.1,NM_001164105.1,NM_018995.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	221/1166,201/1166,221/1212	50547193	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50547193C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.663C>T	22.37:g.50547193C>T						MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.D221D|MOV10L1_ENST00000545383.1_Silent_p.D221D|MOV10L1_ENST00000540615.1_Silent_p.D201D	p.D221D	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	5	746	+		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)	221					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	c.663C>T	CCDS14084.1																																																																																				0.517	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		26	52	0	0	0	1	0	26	52					T	50547193	C	T	50547193	2	4	435	1	0	0	0	0	0	0	0	1	9719	535	19	1		1	MOV10L1	22	50547193	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	109317	50547193	757373	9015	29940											
MOV10L1	54456	broad.mit.edu	37	chr22	50552164	50552164	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgaagttacacaggtgacGcattttggaaccctaaagga	14	10	10	7	1	0	2	0	2	0	0	0	4	0	4	1	3	2	2	1	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50552164G>A	ENST00000262794.5	+	6	914	c.831G>A	c.(829-831)acG>acA	p.T277T	MOV10L1_ENST00000545383.1_Silent_p.T277T|MOV10L1_ENST00000395858.3_Silent_p.T277T|MOV10L1_ENST00000540615.1_Silent_p.T257T|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	277					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			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)		CACAGGTGACGCATTTTGGAA	0.413																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(829-831)acG>acA		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							117	108	111					22																	50552164		2203	4300	6503	SO:0001819	synonymous_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50552164G>A	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.831G>A	22.37:g.50552164G>A						MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.T277T|MOV10L1_ENST00000545383.1_Silent_p.T277T|MOV10L1_ENST00000540615.1_Silent_p.T257T	p.T277T	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	6	914	+		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)	277					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	c.831G>A	CCDS14084.1																																																																																				0.413	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		16	40	0	0	0	1	0	16	40					A	50552164	G	A	50552164	2	1	435	1	0	0	0	0	0	0	0	1	9719	1074	38	1		1	MOV10L1	22	50552164	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4971	50552164	752402	9016	29941											
MOV10L1	54456	broad.mit.edu	37	chr22	50552182	50552182	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcattttggaaccctaaaGgaaggaagaagtaaaaccat	18	7	9	7	1	0	1	0	0	0	1	0	4	0	4	2	3	2	2	2	3	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50552182G>T	ENST00000262794.5	+	6	932	c.849G>T	c.(847-849)aaG>aaT	p.K283N	MOV10L1_ENST00000545383.1_Missense_Mutation_p.K283N|MOV10L1_ENST00000395858.3_Missense_Mutation_p.K283N|MOV10L1_ENST00000540615.1_Missense_Mutation_p.K263N|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	283					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			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)		GAACCCTAAAGGAAGGAAGAA	0.398																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(847-849)aaG>aaT		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							118	109	112					22																	50552182		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50552182G>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.849G>T	22.37:g.50552182G>T	ENSP00000262794:p.Lys283Asn					MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.K283N|MOV10L1_ENST00000545383.1_Missense_Mutation_p.K283N|MOV10L1_ENST00000540615.1_Missense_Mutation_p.K263N	p.K283N	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	6	932	+		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)	283					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.849G>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886462	0.51908	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.86497	-1.94;-1.94;-1.53;-2.13	6.17	-3.19	0.05171	.	0.235942	0.50627	N	0.000118	D	0.83216	0.5206	M	0.64997	1.995	0.45791	D	0.99867	D;P;P;P	0.55800	0.973;0.682;0.907;0.948	P;B;B;B	0.51742	0.678;0.376;0.303;0.303	T	0.76361	-0.2987	10	0.26408	T	0.33	-14.8035	2.8453	0.05541	0.5148:0.1095:0.2674:0.1084	.	44;263;283;283	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	N	283;283;283;263	ENSP00000438978:K283N;ENSP00000262794:K283N;ENSP00000379199:K283N;ENSP00000438542:K263N	ENSP00000262794:K283N	K	+	3	2	MOV10L1	48894309	0.184000	0.23200	0.023000	0.16930	0.530000	0.34684	0.109000	0.15417	-0.827000	0.04278	0.655000	0.94253	AAG		0.398	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		18	46	1	0	1.64113e-05	1	1.69611e-05	18	46					T	50552182	G	T	50552182	3	4	435	1	0	0	0	0	1	0	0	0	9719	991	35	5	912	5	MOV10L1	22	50552182	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18	50552182	752384	9017	29942											
MOV10L1	54456	broad.mit.edu	37	chr22	50584141	50584141	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttattgacgccgtcaaaccGtattgcagagacggagaaga	13	8	12	8	4	1	4	1	1	0	3	1	6	1	4	2	1	2	3	2	1	4	4	rs547130531	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50584141G>A	ENST00000262794.5	+	19	2612	c.2529G>A	c.(2527-2529)ccG>ccA	p.P843P	MOV10L1_ENST00000545383.1_Silent_p.P843P|MOV10L1_ENST00000395858.3_Silent_p.P843P|MOV10L1_ENST00000540615.1_Silent_p.P823P|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395852.1_5'Flank	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	843					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			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)		CCGTCAAACCGTATTGCAGAG	0.483													g|||	2	0.000399361	8e-04	0	5008	,	,		18409	0		0.001	False		,,,				2504	0					ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(2527-2529)ccG>ccA		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							119	116	117					22																	50584141		2203	4300	6503	SO:0001819	synonymous_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50584141G>A	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2529G>A	22.37:g.50584141G>A						MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.P843P|MOV10L1_ENST00000545383.1_Silent_p.P843P|MOV10L1_ENST00000540615.1_Silent_p.P823P	p.P843P	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	19	2612	+		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)	843					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	c.2529G>A	CCDS14084.1																																																																																				0.483	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		34	54	0	0	0	1	0	34	54					A	50584141	G	A	50584141	2	1	435	1	0	0	0	0	0	0	0	1	9719	1132	40	1		1	MOV10L1	22	50584141	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31959	50584141	720425	9018	29943											
PANX2	56666	broad.mit.edu	37	chr22	50617461	50617461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtccgctcacctcccgccGcccctgctgtggcccctctg	2	8	9	22	4	2	0	1	0	1	0	4	0	4	0	8	1	1	2	8	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50617461G>A	ENST00000395842.2	+	3	1789	c.1789G>A	c.(1789-1791)Gcc>Acc	p.A597T	PANX2_ENST00000159647.5_Missense_Mutation_p.A597T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	597					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		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)		ACCTCCCGCCGCCCCTGCTGT	0.692																																						ENST00000395842.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1789-1791)Gcc>Acc		pannexin 2							23	22	22					22																	50617461		2186	4297	6483	SO:0001583	missense	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50617461G>A		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1789G>A	22.37:g.50617461G>A	ENSP00000379183:p.Ala597Thr					PANX2_ENST00000159647.5_Missense_Mutation_p.A597T	p.A597T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	3	1789	+		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)	597					B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	c.1789G>A	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465171	0.43839	.	.	ENSG00000073150	ENST00000159647;ENST00000395842;ENST00000401643	T;T	0.23552	1.9;1.92	3.71	0.161	0.14977	.	0.565504	0.15731	N	0.247434	T	0.10723	0.0262	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.17930	-1.0353	10	0.40728	T	0.16	-11.8503	0.7092	0.00921	0.1603:0.1991:0.2382:0.4024	.	597;597	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	T	597;597;274	ENSP00000159647:A597T;ENSP00000379183:A597T	ENSP00000159647:A597T	A	+	1	0	PANX2	48959588	0.029000	0.19370	0.003000	0.11579	0.379000	0.30106	1.699000	0.37804	0.302000	0.22762	0.305000	0.20034	GCC		0.692	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		6	9	0	0	0	1	0	6	9					A	50617461	G	A	50617461	3	1	435	1	0	0	0	0	1	0	0	0	11421	1087	38	1	1799	1	PANX2	22	50617461	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33320	50617461	687105	9019	29944											
TRABD	80305	broad.mit.edu	37	chr22	50635672	50635672	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctccctctctctgcagaaCgggctcatgtcggggctgat	5	11	12	13	2	3	2	1	1	2	1	6	2	4	2	1	3	3	4	1	3	1	0	rs144093601		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50635672C>T	ENST00000303434.4	+	6	542	c.423C>T	c.(421-423)aaC>aaT	p.N141N	TRABD_ENST00000395827.1_Silent_p.N141N|TRABD_ENST00000395829.1_Silent_p.N141N|RP3-402G11.26_ENST00000608025.1_RNA|TRABD_ENST00000380909.4_Silent_p.N141N	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	141										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)		CTCTGCAGAACGGGCTCATGT	0.662																																						ENST00000303434.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(421-423)aaC>aaT		TraB domain containing							52	54	53					22																	50635672		2203	4299	6502	SO:0001819	synonymous_variant	80305							g.chr22:50635672C>T	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.423C>T	22.37:g.50635672C>T						TRABD_ENST00000395829.1_Silent_p.N141N|TRABD_ENST00000380909.4_Silent_p.N141N|TRABD_ENST00000395827.1_Silent_p.N141N	p.N141N	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	6	542	+		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)	141					Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Silent	SNP	ENST00000303434.4	37	c.423C>T	CCDS14086.1																																																																																				0.662	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	NM_025204		18	22	0	0	0	1	0	18	22					T	50635672	C	T	50635672	2	4	435	1	0	0	0	0	0	0	0	1	16432	535	19	1		1	TRABD	22	50635672	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18211	50635672	668894	9020	29945											
TRABD	80305	broad.mit.edu	37	chr22	50636541	50636541	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccctccgtggtcgtgggCgtcgtgggcatgggccacgt	2	9	17	13	5	0	0	0	0	0	0	4	0	2	0	4	4	0	1	4	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50636541C>T	ENST00000303434.4	+	9	1001	c.882C>T	c.(880-882)ggC>ggT	p.G294G	TRABD_ENST00000395827.1_Silent_p.G294G|TRABD_ENST00000395829.1_Silent_p.G294G|RP3-402G11.26_ENST00000608025.1_RNA|SELO_ENST00000380903.2_5'Flank|TRABD_ENST00000380909.4_Silent_p.G294G	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	294										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)		TGGTCGTGGGCGTCGTGGGCA	0.667																																						ENST00000303434.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(880-882)ggC>ggT		TraB domain containing							55	50	52					22																	50636541		2199	4299	6498	SO:0001819	synonymous_variant	80305							g.chr22:50636541C>T	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.882C>T	22.37:g.50636541C>T						TRABD_ENST00000395829.1_Silent_p.G294G|TRABD_ENST00000380909.4_Silent_p.G294G|TRABD_ENST00000395827.1_Silent_p.G294G	p.G294G	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	9	1001	+		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)	294					Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Silent	SNP	ENST00000303434.4	37	c.882C>T	CCDS14086.1																																																																																				0.667	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	NM_025204		10	10	0	0	0	1	0	10	10					T	50636541	C	T	50636541	2	4	435	1	0	0	0	0	0	0	0	1	16432	755	27	1		1	TRABD	22	50636541	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	869	50636541	668025	9021	29946											
TRABD	80305	broad.mit.edu	37	chr22	50636868	50636868	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcctgtactggatgggcCgccgcaccgcgagcctggtc	6	6	14	15	4	0	0	0	0	0	0	1	2	0	1	5	3	3	2	5	3	1	1	rs532584202		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50636868C>A	ENST00000303434.4	+	10	1170	c.1051C>A	c.(1051-1053)Cgc>Agc	p.R351S	TRABD_ENST00000395827.1_Missense_Mutation_p.R351S|TRABD_ENST00000395829.1_Missense_Mutation_p.R351S|RP3-402G11.26_ENST00000608025.1_RNA|SELO_ENST00000380903.2_5'Flank|TRABD_ENST00000380909.4_Missense_Mutation_p.R351S	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	351										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)		CTGGATGGGCCGCCGCACCGC	0.711																																						ENST00000303434.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(1051-1053)Cgc>Agc		TraB domain containing							9	12	11					22																	50636868		2161	4249	6410	SO:0001583	missense	80305							g.chr22:50636868C>A	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.1051C>A	22.37:g.50636868C>A	ENSP00000305664:p.Arg351Ser					TRABD_ENST00000395829.1_Missense_Mutation_p.R351S|TRABD_ENST00000380909.4_Missense_Mutation_p.R351S|TRABD_ENST00000395827.1_Missense_Mutation_p.R351S	p.R351S	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	10	1170	+		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)	351					Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Missense_Mutation	SNP	ENST00000303434.4	37	c.1051C>A	CCDS14086.1	.	.	.	.	.	.	.	.	.	.	c	13.80	2.344789	0.41498	.	.	ENSG00000170638	ENST00000380909;ENST00000303434;ENST00000395827;ENST00000395829	.	.	.	4.33	2.07	0.26955	.	0.568107	0.17753	N	0.163178	T	0.24586	0.0596	L	0.41492	1.28	0.22629	N	0.998917	B;P	0.38992	0.153;0.653	B;B	0.39660	0.037;0.306	T	0.10291	-1.0636	9	0.09084	T	0.74	-28.134	7.3137	0.26489	0.178:0.7236:0.0:0.0983	.	305;351	Q9H4I3-2;Q9H4I3	.;TRABD_HUMAN	S	351	.	ENSP00000305664:R351S	R	+	1	0	TRABD	48978995	1.000000	0.71417	0.977000	0.42913	0.782000	0.44232	2.520000	0.45554	1.022000	0.39626	-0.265000	0.10407	CGC		0.711	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	NM_025204		3	4	1	0	0.115264	1	0.115739	3	4					A	50636868	C	A	50636868	3	1	435	1	0	0	0	0	1	0	0	0	16432	652	23	5	1085	5	TRABD	22	50636868	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	327	50636868	667698	9022	29947											
SELO	83642	broad.mit.edu	37	chr22	50649339	50649339	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagaccatgcatctgacCggtgagtgacccagccgtgc	8	7	13	13	2	1	4	0	3	1	1	1	5	1	4	4	2	3	1	4	2	0	0	rs369786492	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50649339C>T	ENST00000380903.2	+	5	1408	c.1350C>T	c.(1348-1350)acC>acT	p.T450T	SELO_ENST00000492092.1_3'UTR|RP3-402G11.28_ENST00000608016.1_RNA	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN		450													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)		TGCATCTGACCGGTGAGTGAC	0.602											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	3	0.000599042	0.0023	0	5008	,	,		18283	0		0	False		,,,				2504	0					ENST00000380903.2																			0											c.e5+1				C		1,4263		0,1,2131	80	93	89		1350	-11	0.7	22		89	0,8452		0,0,4226	no	coding-synonymous-near-splice	SELO	NM_031454.1		0,1,6357	TT,TC,CC		0.0,0.0235,0.0079		450/670	50649339	1,12715	2132	4226	6358	SO:0001630	splice_region_variant	0							g.chr22:50649339C>T																												ENST00000380903.2:c.1351+1C>T	22.37:g.50649339C>T			OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	971	RP3-402G11.5_ENST00000492092.1_3'UTR	p.T450_splice	NM_031454.1	NP_113642.1					5	1408	+								Q2TAL2|Q5JZ81|Q8WUI0	Splice_Site	SNP	ENST00000380903.2	37	c.1351_splice	CCDS43034.1																																																																																				0.602	SELO-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000075003.2		Silent	42	65	0	0	0	1	0	42	65					T	50649339	C	T	50649339	5	4	435	1	0	0	0	0	0	0	1	0	14018	666	23	2	1368	2	SELO	22	50649339	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12471	50649339	655227	9023	29948											
PLXNB2	23654	broad.mit.edu	37	chr22	50716563	50716563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgactgagagcagccGcgtcaggtagatctcggtga	9	8	13	11	3	2	4	1	3	1	2	3	5	2	4	2	2	2	2	2	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50716563G>A	ENST00000449103.1	-	31	5010	c.4870C>T	c.(4870-4872)Cgg>Tgg	p.R1624W	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R1624W			O15031	PLXB2_HUMAN	plexin B2	1624					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			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)		GAGAGCAGCCGCGTCAGGTAG	0.692																																						ENST00000449103.1																			0				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						c.(4870-4872)Cgg>Tgg		plexin B2							31	33	32					22																	50716563		2154	4248	6402	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50716563G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4870C>T	22.37:g.50716563G>A	ENSP00000409171:p.Arg1624Trp					PLXNB2_ENST00000359337.4_Missense_Mutation_p.R1624W	p.R1624W			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	31	5010	-		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)	1624					A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.4870C>T	CCDS43035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.14|12.14	1.849940|1.849940	0.32699|0.32699	.|.	.|.	ENSG00000196576|ENSG00000196576	ENST00000399991;ENST00000399964|ENST00000449103;ENST00000359337;ENST00000411680	.|T;T;T	.|0.19250	.|2.16;2.16;2.16	4.7|4.7	-1.93|-1.93	0.07594|0.07594	.|Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.51312|0.51312	0.1667|0.1667	M|M	0.90650|0.90650	3.135|3.135	0.39659|0.39659	D|D	0.970585|0.970585	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.66854|0.66854	-0.5818|-0.5818	6|10	0.62326|0.87932	D|D	0.03|0	.|.	17.5485|17.5485	0.87870|0.87870	0.0:0.0:0.2296:0.7704|0.0:0.0:0.2296:0.7704	.|.	.|1624	.|O15031	.|PLXB2_HUMAN	V|W	95;254|1624;1624;176	.|ENSP00000409171:R1624W;ENSP00000352288:R1624W;ENSP00000400679:R176W	ENSP00000382845:A254V|ENSP00000352288:R1624W	A|R	-|-	2|1	0|2	PLXNB2|PLXNB2	49058690|49058690	0.434000|0.434000	0.25570|0.25570	0.066000|0.066000	0.19879|0.19879	0.284000|0.284000	0.27059|0.27059	0.662000|0.662000	0.25038|0.25038	-0.418000|-0.418000	0.07450|0.07450	-1.835000|-1.835000	0.00590|0.00590	GCG|CGG		0.692	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		4	22	0	0	0	1	0	4	22					A	50716563	G	A	50716563	3	1	435	1	0	0	0	0	1	0	0	0	12124	1086	38	1	674	1	PLXNB2	22	50716563	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	67224	50716563	588003	9024	29949											
PLXNB2	23654	broad.mit.edu	37	chr22	50720614	50720614	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccacgccaggactgaccGtcatgggctgcagggattca	9	6	13	13	2	2	1	2	1	0	0	2	3	2	3	3	3	2	2	3	3	0	1	rs372167877		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50720614G>A	ENST00000449103.1	-	19	3256	c.3116C>T	c.(3115-3117)aCg>aTg	p.T1039M	PLXNB2_ENST00000359337.4_Splice_Site_p.T1039M|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1039	IPT/TIG 3.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			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)		AGGACTGACCGTCATGGGCTG	0.692																																						ENST00000449103.1																			0				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						c.e19+1		plexin B2		G	MET/THR	0,4068		0,0,2034	23	26	25		3116	-1.2	0.8	22		25	1,8325		0,1,4162	no	missense-near-splice	PLXNB2	NM_012401.3	81	0,1,6196	AA,AG,GG		0.012,0.0,0.0081	benign	1039/1839	50720614	1,12393	2034	4163	6197	SO:0001630	splice_region_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50720614G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3117+1C>T	22.37:g.50720614G>A						PLXNB2_ENST00000359337.4_Splice_Site_p.T1039_splice	p.T1039_splice			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	19	3256	-		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)	1039			IPT/TIG 3.		A6QRH0|Q7KZU3|Q9BSU7	Splice_Site	SNP	ENST00000449103.1	37	c.3117_splice	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	9.779	1.174701	0.21704	0.0	1.2E-4	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.76968	-1.06;-1.06	4.59	-1.22	0.09494	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.384870	0.05045	N	0.477126	T	0.68595	0.3018	M	0.65498	2.005	0.09310	N	0.99999	P	0.38565	0.637	B	0.31245	0.126	T	0.55655	-0.8107	10	0.35671	T	0.21	.	3.1303	0.06421	0.3718:0.0:0.371:0.2572	.	1039	O15031	PLXB2_HUMAN	M	1039	ENSP00000409171:T1039M;ENSP00000352288:T1039M	ENSP00000352288:T1039M	T	-	2	0	PLXNB2	49062741	0.052000	0.20516	0.801000	0.32222	0.230000	0.25150	0.055000	0.14229	0.032000	0.15435	0.305000	0.20034	ACG		0.692	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401	Missense_Mutation	12	13	0	0	0	1	0	12	13					A	50720614	G	A	50720614	5	1	435	1	0	0	0	0	0	0	1	0	12124	1159	40	1	2476	1	PLXNB2	22	50720614	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4051	50720614	583952	9025	29950											
PLXNB2	23654	broad.mit.edu	37	chr22	50728217	50728217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggatgtcggggtcccggCactgcaggtccatctccagg	5	8	15	13	3	1	0	0	0	1	0	5	1	3	1	3	6	1	2	3	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50728217C>T	ENST00000449103.1	-	3	937	c.797G>A	c.(796-798)tGc>tAc	p.C266Y	PLXNB2_ENST00000359337.4_Missense_Mutation_p.C266Y			O15031	PLXB2_HUMAN	plexin B2	266	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			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)		GGGGTCCCGGCACTGCAGGTC	0.647																																						ENST00000449103.1																			0				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						c.(796-798)tGc>tAc		plexin B2							41	45	44					22																	50728217		2068	4186	6254	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728217C>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.797G>A	22.37:g.50728217C>T	ENSP00000409171:p.Cys266Tyr					PLXNB2_ENST00000359337.4_Missense_Mutation_p.C266Y	p.C266Y			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	937	-		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)	266			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.797G>A	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703228	0.68501	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.72942	-0.7;-0.7;-0.7	4.62	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	D	0.000008	D	0.86682	0.5991	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89632	0.3856	10	0.87932	D	0	.	17.6365	0.88123	0.0:1.0:0.0:0.0	.	266	O15031	PLXB2_HUMAN	Y	266	ENSP00000409171:C266Y;ENSP00000352288:C266Y;ENSP00000392620:C266Y	ENSP00000352288:C266Y	C	-	2	0	PLXNB2	49070344	0.883000	0.30277	0.926000	0.36857	0.455000	0.32408	2.611000	0.46334	2.391000	0.81399	0.462000	0.41574	TGC		0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		6	21	0	0	0	1	0	6	21					T	50728217	C	T	50728217	3	4	435	1	0	0	0	0	1	0	0	0	12124	710	25	3	4859	3	PLXNB2	22	50728217	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7603	50728217	576349	9026	29951											
FAM116B	414918	broad.mit.edu	37	chr22	50752652	50752652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agacctggcttggtgtccagGgtcttcaaccttgaaggctt	7	12	12	10	0	2	2	1	1	1	1	3	2	3	2	3	4	1	2	3	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50752652G>A	ENST00000413817.3	-	13	1193	c.1122C>T	c.(1120-1122)acC>acT	p.T374T	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	374					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										TGGTGTCCAGGGTCTTCAACC	0.637																																						ENST00000413817.2																			0											c.(1120-1122)acC>acT		DENN/MADD domain containing 6B							40	46	44					22																	50752652		1951	4128	6079	SO:0001819	synonymous_variant	414918							g.chr22:50752652G>A	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"DENN/MADD domain containing"	32690	protein-coding gene	gene with protein product			"family with sequence similarity 116, member B"	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1122C>T	22.37:g.50752652G>A							p.T374T	NM_001001794.3	NP_001001794.3					13	1193	-								A6X8I5	Silent	SNP	ENST00000413817.3	37	c.1122C>T	CCDS46732.1																																																																																				0.637	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		7	6	0	0	0	1	0	7	6					A	50752652	G	A	50752652	2	1	435	1	0	0	0	0	0	0	0	1	5408	1219	43	3		3	FAM116B	22	50752652	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24435	50752652	551914	9027	29952											
SAPS2	9701	broad.mit.edu	37	chr22	50832367	50832367	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttgacttgaacaccacGtcccatgttgacaagctgct	11	11	8	11	1	0	3	0	3	0	0	1	3	1	3	2	0	3	4	2	0	3	3	rs375618405		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50832367G>A	ENST00000216061.5	+	4	400	c.30G>A	c.(28-30)acG>acA	p.T10T	PPP6R2_ENST00000395744.3_Silent_p.T10T|PPP6R2_ENST00000359139.3_Silent_p.T10T|PPP6R2_ENST00000395741.3_Silent_p.T10T			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	10						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TGAACACCACGTCCCATGTTG	0.527																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(28-30)acG>acA		protein phosphatase 6, regulatory subunit 2		G	,,,	1,4405	2.1+/-5.4	0,1,2202	161	138	146		30,30,30,30	-1.1	1	22		146	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP6R2	NM_001242898.1,NM_001242899.1,NM_001242900.1,NM_014678.4	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	10/960,10/934,10/928,10/933	50832367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50832367G>A	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.30G>A	22.37:g.50832367G>A						PPP6R2_ENST00000395741.3_Silent_p.T10T|PPP6R2_ENST00000395744.3_Silent_p.T10T|PPP6R2_ENST00000216061.5_Silent_p.T10T	p.T10T	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			3	424	+			10					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37	c.30G>A																																																																																					0.527	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		41	97	0	0	0	1	0	41	97					A	50832367	G	A	50832367	2	1	435	1	0	0	0	0	0	0	0	1	13837	1132	40	1		1	SAPS2	22	50832367	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	79715	50832367	472199	9028	29953											
SAPS2	9701	broad.mit.edu	37	chr22	50876706	50876706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtgacactcgctgtgctgCccgggtgatggccagaccca	7	7	13	14	2	0	3	0	2	0	1	1	3	0	3	3	2	2	2	3	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50876706C>T	ENST00000216061.5	+	19	2313	c.1943C>T	c.(1942-1944)gCc>gTc	p.A648V	PPP6R2_ENST00000395744.3_Missense_Mutation_p.A621V|PPP6R2_ENST00000395741.3_Missense_Mutation_p.A622V|PPP6R2_ENST00000359139.3_Missense_Mutation_p.A621V			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	648						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CGCTGTGCTGCCCGGGTGATG	0.627																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(1861-1863)gCc>gTc		protein phosphatase 6, regulatory subunit 2							89	86	87					22																	50876706		2203	4300	6503	SO:0001583	missense	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50876706C>T	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1943C>T	22.37:g.50876706C>T	ENSP00000216061:p.Ala648Val					PPP6R2_ENST00000395744.3_Missense_Mutation_p.A621V|PPP6R2_ENST00000395741.3_Missense_Mutation_p.A622V|PPP6R2_ENST00000216061.5_Missense_Mutation_p.A648V	p.A621V	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			17	2256	+			648					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37	c.1862C>T		.	.	.	.	.	.	.	.	.	.	C	21.0	4.077405	0.76528	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.33654	1.4;1.42;1.42;1.43	5.47	5.47	0.80525	.	0.414865	0.29767	N	0.011254	T	0.38852	0.1056	L	0.51422	1.61	0.33632	D	0.606205	B;B;B;B;B;B	0.29136	0.093;0.076;0.046;0.234;0.076;0.12	B;B;B;B;B;B	0.31290	0.092;0.1;0.046;0.127;0.1;0.087	T	0.52253	-0.8600	10	0.54805	T	0.06	-4.7375	18.1031	0.89512	0.0:1.0:0.0:0.0	.	180;648;648;622;621;621	F2Z3M7;O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;.;PP6R2_HUMAN;.;.;.	V	621;622;621;648	ENSP00000352051:A621V;ENSP00000379090:A622V;ENSP00000379093:A621V;ENSP00000216061:A648V	ENSP00000216061:A648V	A	+	2	0	PPP6R2	49223572	0.977000	0.34250	0.369000	0.25952	0.010000	0.07245	7.366000	0.79548	2.582000	0.87167	0.561000	0.74099	GCC		0.627	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		5	80	0	0	0	1	0	5	80					T	50876706	C	T	50876706	3	4	435	1	0	0	0	0	1	0	0	0	13837	739	26	3	1920	3	SAPS2	22	50876706	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44339	50876706	427860	9029	29954											
SBF1	6305	broad.mit.edu	37	chr22	50895021	50895021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctggggtggggccagcGcgtctctgccagctagccgg	3	7	18	13	3	1	0	0	0	1	0	2	0	1	0	4	6	4	1	4	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50895021G>A	ENST00000390679.3	-	29	4092	c.3908C>T	c.(3907-3909)gCg>gTg	p.A1303V	SBF1_ENST00000476293.1_5'UTR|SBF1_ENST00000380817.3_Missense_Mutation_p.A1329V|SBF1_ENST00000348911.6_Missense_Mutation_p.A1304V			O95248	MTMR5_HUMAN	SET binding factor 1	1303	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			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)		TGGGGCCAGCGCGTCTCTGCC	0.677																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3985-3987)gCg>gTg		SET binding factor 1							7	10	9					22																	50895021		1977	4128	6105	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50895021G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3908C>T	22.37:g.50895021G>A	ENSP00000375097:p.Ala1303Val					SBF1_ENST00000476293.1_5'UTR|SBF1_ENST00000348911.6_Missense_Mutation_p.A1304V|SBF1_ENST00000390679.3_Missense_Mutation_p.A1303V	p.A1329V	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	30	4169	-		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)	1303			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.3986C>T		.	.	.	.	.	.	.	.	.	.	G	5.124	0.208469	0.09757	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.86627	-2.12;-2.15;-2.15	4.38	-0.616	0.11583	Myotubularin phosphatase domain (1);	1.524220	0.03968	N	0.291139	T	0.66187	0.2764	N	0.01188	-0.97	0.09310	N	0.999997	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.56721	-0.7932	10	0.29301	T	0.29	.	4.7211	0.12918	0.5789:0.1529:0.2682:0.0	.	1303;1329	O95248;O95248-4	MTMR5_HUMAN;.	V	1329;1304;1339;1303	ENSP00000370196:A1329V;ENSP00000252027:A1304V;ENSP00000375097:A1303V	ENSP00000336522:A1339V	A	-	2	0	SBF1	49241887	0.154000	0.22792	0.003000	0.11579	0.066000	0.16364	0.413000	0.21148	-0.271000	0.09272	-0.379000	0.06801	GCG		0.677	SBF1-201	KNOWN	basic	protein_coding	protein_coding				5	3	0	0	0	1	0	5	3					A	50895021	G	A	50895021	3	1	435	1	0	0	0	0	1	0	0	0	13858	1087	38	1	1743	1	SBF1	22	50895021	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18315	50895021	409545	9030	29955											
SBF1	6305	broad.mit.edu	37	chr22	50901310	50901310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactcacccggcagaaggCtgtgaccagaggcagcagag	12	3	14	12	1	1	4	1	1	0	3	1	4	1	4	2	3	2	5	2	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50901310C>T	ENST00000390679.3	-	17	2141	c.1957G>A	c.(1957-1959)Gcc>Acc	p.A653T	SBF1_ENST00000380817.3_Missense_Mutation_p.A653T|SBF1_ENST00000348911.6_Missense_Mutation_p.A654T			O95248	MTMR5_HUMAN	SET binding factor 1	653					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			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)		CGGCAGAAGGCTGTGACCAGA	0.657																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1957-1959)Gcc>Acc		SET binding factor 1							23	30	28					22																	50901310		2152	4241	6393	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50901310C>T	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1957G>A	22.37:g.50901310C>T	ENSP00000375097:p.Ala653Thr					SBF1_ENST00000348911.6_Missense_Mutation_p.A654T|SBF1_ENST00000390679.3_Missense_Mutation_p.A653T	p.A653T	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	17	2140	-		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)	653					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.1957G>A		.	.	.	.	.	.	.	.	.	.	C	22.3	4.264873	0.80358	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.46063	0.88;0.88;0.88	4.89	4.89	0.63831	.	0.057774	0.64402	D	0.000002	T	0.58892	0.2154	L	0.59436	1.845	0.53688	D	0.999973	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;0.998;0.995	T	0.55642	-0.8109	10	0.38643	T	0.18	.	13.6816	0.62489	0.1551:0.8449:0.0:0.0	.	653;654;653	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	T	653;654;664;663;653	ENSP00000370196:A653T;ENSP00000252027:A654T;ENSP00000375097:A653T	ENSP00000336522:A663T	A	-	1	0	SBF1	49248176	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	4.392000	0.59659	2.535000	0.85469	0.561000	0.74099	GCC		0.657	SBF1-201	KNOWN	basic	protein_coding	protein_coding				8	16	0	0	0	1	0	8	16					T	50901310	C	T	50901310	3	4	435	1	0	0	0	0	1	0	0	0	13858	797	28	3	3824	3	SBF1	22	50901310	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6289	50901310	403256	9031	29956											
SBF1	6305	broad.mit.edu	37	chr22	50901733	50901733	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaggcagcagttcatcatAcggacgacaaagtcaaactg	14	7	10	10	2	3	0	3	0	0	0	3	2	3	1	0	2	4	4	0	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50901733A>G	ENST00000390679.3	-	16	2062	c.1878T>C	c.(1876-1878)cgT>cgC	p.R626R	SBF1_ENST00000380817.3_Silent_p.R626R|SBF1_ENST00000348911.6_Silent_p.R627R			O95248	MTMR5_HUMAN	SET binding factor 1	626					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			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)		AGTTCATCATACGGACGACAA	0.627																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1876-1878)cgT>cgC		SET binding factor 1							45	46	46					22																	50901733		2119	4224	6343	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50901733A>G	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1878T>C	22.37:g.50901733A>G						SBF1_ENST00000348911.6_Silent_p.R627R|SBF1_ENST00000390679.3_Silent_p.R626R	p.R626R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	16	2061	-		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)	626					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.1878T>C																																																																																					0.627	SBF1-201	KNOWN	basic	protein_coding	protein_coding				16	25	0	0	0	1	0	16	25					G	50901733	A	G	50901733	2	3	435	1	0	0	0	0	0	0	0	1	13858	378	14	4		4	SBF1	22	50901733	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	423	50901733	402833	9032	29957											
KLHDC7B	113730	broad.mit.edu	37	chr22	50987555	50987555	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtccctgcctctacctgcGcacctgcatgtgttcaaccc	5	11	8	17	1	2	0	1	0	1	0	3	0	3	0	5	0	5	3	5	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50987555G>A	ENST00000395676.2	+	1	1094	c.960G>A	c.(958-960)gcG>gcA	p.A320A	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	320										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCTACCTGCGCACCTGCATG	0.716																																						ENST00000395676.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(958-960)gcG>gcA		kelch domain containing 7B							28	36	34					22																	50987555		1996	4003	5999	SO:0001819	synonymous_variant	113730							g.chr22:50987555G>A	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.960G>A	22.37:g.50987555G>A							p.A320A	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN		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)	1	1094	+		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)	320						Silent	SNP	ENST00000395676.2	37	c.960G>A	CCDS14097.2																																																																																				0.716	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		33	55	0	0	0	1	0	33	55					A	50987555	G	A	50987555	2	1	435	1	0	0	0	0	0	0	0	1	8361	1074	38	1		1	KLHDC7B	22	50987555	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	85822	50987555	317011	9033	29958											
PLCXD1	55344	broad.mit.edu	37	chrX	207434	207434	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catatggtgtacacaacggcGctggtggaggtgcggccggg	7	7	18	9	4	0	0	0	0	0	0	0	1	0	1	1	7	3	2	1	7	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:207434G>A	ENST00000381657.2	+	4	898	c.384G>A	c.(382-384)gcG>gcA	p.A128A	PLCXD1_ENST00000399012.1_Silent_p.A128A|PLCXD1_ENST00000381663.3_Silent_p.A128A|PLCXD1_ENST00000484611.2_3'UTR	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	128	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACACAACGGCGCTGGTGGAGG	0.667																																						ENST00000381657.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(382-384)gcG>gcA		phosphatidylinositol-specific phospholipase C, X domain containing 1							169	147	154					X																	207434		2203	4296	6499	SO:0001819	synonymous_variant	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:207434G>A	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"Pseudoautosomal regions / PAR1"	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.384G>A	X.37:g.207434G>A						PLCXD1_ENST00000381663.3_Silent_p.A128A|PLCXD1_ENST00000399012.1_Silent_p.A128A|PLCXD1_ENST00000484611.2_3'UTR	p.A128A	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN			4	898	+		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)	128			PI-PLC X-box.		A2BH51|A2BH52	Silent	SNP	ENST00000381657.2	37	c.384G>A	CCDS14103.1																																																																																				0.667	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		9	20	0	0	0	1	0	9	20					A	207434	G	A	207434	2	1	435	1	0	0	0	0	0	0	0	1	12041	1074	38	1		1	PLCXD1	23	207434	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08		207434	155063126	9034	29959											
CRLF2	64109	broad.mit.edu	37	chrX	1317492	1317492	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctggcccatatacatcCtccatagccttcaccctgac	8	11	6	16	0	2	1	1	1	1	0	4	1	4	1	5	1	2	0	5	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:1317492C>T	ENST00000381567.3	-	5	572	c.573G>A	c.(571-573)gaG>gaA	p.E191E	CRLF2_ENST00000467626.1_Intron	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	191	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				immunoglobulin secretion involved in immune response (GO:0002380)|inflammatory response (GO:0006954)|T-helper 2 cell cytokine production (GO:0035745)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CATATACATCCTCCATAGCCT	0.517			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"																																	ENST00000381567.3				Dom	yes		"X,Y"	Xp22.3; Yp11.3	64109	"Mis, T"	cytokine receptor-like factor 2			L	"P2RY8, IGH@"		"B-ALL, Downs associated ALL"		0				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20						c.(571-573)gaG>gaA		cytokine receptor-like factor 2							393	412	406					X																	1317492		2089	4199	6288	SO:0001819	synonymous_variant	64109					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chrX:1317492C>T	AF142570	CCDS75944.1, CCDS75945.1	Xp22.3 and Yp11.3	2011-10-07			ENSG00000205755	ENSG00000205755		"Pseudoautosomal regions / PAR1"	14281	protein-coding gene	gene with protein product		300357, 400023				11237741, 11474172	Standard	NM_022148		Approved	CRL2, TSLPR	uc004cpk.2	Q9HC73	OTTHUMG00000067432	ENST00000381567.3:c.573G>A	X.37:g.1317492C>T						CRLF2_ENST00000467626.1_Intron	p.E191E	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN			5	572	-		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)	191			Fibronectin type-III.		Q9H5R3	Silent	SNP	ENST00000381567.3	37	c.573G>A																																																																																					0.517	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022148		15	41	0	0	0	1	0	15	41					T	1317492	C	T	1317492	2	4	435	1	0	0	0	0	0	0	0	1	3887	680	24	3		3	CRLF2	23	1317492	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1110058	1317492	153953068	9035	29960											
IL3RA	3563	broad.mit.edu	37	chrX	1497614	1497614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtcgctgctgatcgcgctgGggacgctgctggccctggtc	2	9	16	14	5	0	1	0	1	0	0	3	2	0	2	1	4	2	5	1	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:1497614G>A	ENST00000331035.4	+	10	1286	c.937G>A	c.(937-939)Ggg>Agg	p.G313R	IL3RA_ENST00000381469.2_Missense_Mutation_p.G235R	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	313					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GATCGCGCTGGGGACGCTGCT	0.642																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(937-939)Ggg>Agg		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						127	104	112					X																	1497614		2202	4295	6497	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1497614G>A	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"Pseudoautosomal regions / PAR1", "Interleukins and interleukin receptors", "CD molecules"	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.937G>A	X.37:g.1497614G>A	ENSP00000327890:p.Gly313Arg					IL3RA_ENST00000381469.2_Missense_Mutation_p.G235R	p.G313R	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			10	1286	+		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)	313					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.937G>A	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	12.91	2.079246	0.36662	.	.	ENSG00000185291	ENST00000331035;ENST00000381469	T;D	0.95918	1.27;-3.85	0.798	0.798	0.18660	.	1.848380	0.04527	U	0.385699	D	0.95595	0.8568	L	0.39898	1.24	0.09310	N	1	D;D	0.65815	0.995;0.995	D;P	0.66351	0.943;0.767	D	0.88453	0.3050	9	0.25106	T	0.35	.	.	.	.	.	234;313	P26951-2;P26951	.;IL3RA_HUMAN	R	313;235	ENSP00000327890:G313R;ENSP00000370878:G235R	ENSP00000327890:G313R	G	+	1	0	IL3RA	1457614	0.032000	0.19561	0.067000	0.19924	0.247000	0.25773	1.084000	0.30828	0.710000	0.31997	0.402000	0.26972	GGG		0.642	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			10	15	0	0	0	1	0	10	15					A	1497614	G	A	1497614	3	1	435	1	0	0	0	0	1	0	0	0	7695	1232	43	3	971	3	IL3RA	23	1497614	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	180122	1497614	153772946	9036	29961											
ASMTL	8623	broad.mit.edu	37	chrX	1546862	1546862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgtgcttgacactccgcCgcaggtcctccggacggggc	5	7	14	15	5	0	1	0	1	0	0	4	2	3	2	4	4	1	2	4	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:1546862C>T	ENST00000381317.3	-	7	694	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	ASMTL_ENST00000416733.2_Missense_Mutation_p.R145Q|ASMTL_ENST00000381333.4_Missense_Mutation_p.R205Q|ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000534940.1_Missense_Mutation_p.R163Q	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	221	MAF-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GACACTCCGCCGCAGGTCCTC	0.657																																						ENST00000534940.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23						c.(487-489)cGg>cAg		acetylserotonin O-methyltransferase-like							43	50	48					X																	1546862		1971	4115	6086	SO:0001583	missense	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1546862C>T	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.662G>A	X.37:g.1546862C>T	ENSP00000370718:p.Arg221Gln					ASMTL_ENST00000416733.2_Missense_Mutation_p.R145Q|ASMTL_ENST00000381317.3_Missense_Mutation_p.R221Q|ASMTL_ENST00000381333.4_Missense_Mutation_p.R205Q|ASMTL_ENST00000463763.1_5'UTR	p.R163Q	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN			7	713	-		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)	221			MAF-like.		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	c.488G>A	CCDS43917.1	.	.	.	.	.	.	.	.	.	.	c	1.951	-0.441239	0.04604	.	.	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.01767	4.65;4.66;4.65;4.65	1.99	-2.45	0.06481	.	1.186530	0.06549	N	0.744640	T	0.00967	0.0032	N	0.04508	-0.205	0.09310	N	1	B;P;P	0.46020	0.017;0.871;0.796	B;B;B	0.38755	0.001;0.281;0.089	T	0.50154	-0.8861	10	0.17369	T	0.5	.	8.099	0.30846	0.0:0.3174:0.0:0.6826	.	145;205;221	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	Q	145;163;205;221	ENSP00000410578:R145Q;ENSP00000446410:R163Q;ENSP00000370734:R205Q;ENSP00000370718:R221Q	ENSP00000370718:R221Q	R	-	2	0	ASMTL	1506862	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.643000	0.05421	-0.794000	0.04468	-0.762000	0.03455	CGG		0.657	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		9	15	0	0	0	1	0	9	15					T	1546862	C	T	1546862	3	4	435	1	0	0	0	0	1	0	0	0	1046	652	23	2	1231	2	ASMTL	23	1546862	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	49248	1546862	153723698	9037	29962											
SFRS17A	8227	broad.mit.edu	37	chrX	1714291	1714291	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaaaggtttcttttgattcGaccaaacacctgagtgatgc	11	14	8	8	1	1	3	0	3	1	0	2	4	1	3	2	1	2	1	2	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:1714291G>A	ENST00000313871.3	+	3	973	c.777G>A	c.(775-777)tcG>tcA	p.S259S	AKAP17A_ENST00000381261.3_Silent_p.S259S	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	259					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CTTTTGATTCGACCAAACACC	0.532																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(775-777)tcG>tcA		A kinase (PRKA) anchor protein 17A							280	290	286					X																	1714291		2203	4296	6499	SO:0001819	synonymous_variant	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1714291G>A	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.777G>A	X.37:g.1714291G>A						AKAP17A_ENST00000381261.3_Silent_p.S259S	p.S259S	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			3	973	+			259					Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Silent	SNP	ENST00000313871.3	37	c.777G>A	CCDS14116.1																																																																																				0.532	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		49	96	0	0	0	1	0	49	96					A	1714291	G	A	1714291	2	1	435	1	0	0	0	0	0	0	0	1	14173	1045	37	2		2	SFRS17A	23	1714291	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	167429	1714291	153556269	9038	29963											
DHRSX	207063	broad.mit.edu	37	chrX	2161198	2161198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctcagccgccagcagccGctggaggtggtaggtgaaca	8	6	14	13	2	1	1	1	1	0	0	2	2	2	2	4	4	4	3	4	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:2161198G>A	ENST00000334651.5	-	6	722	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	224							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		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)				GCCAGCAGCCGCTGGAGGTGG	0.642													.|||	4	0.000798722	0.0023	0	5008	,	,		13377	0.001		0	False		,,,				2504	0					ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(670-672)Cgg>Tgg		dehydrogenase/reductase (SDR family) X-linked		G	TRP/ARG	10,4396		0,10,2193	90	85	87		670	-2.9	0.9	X	dbSNP_134	87	1,8591		0,1,4295	no	missense	DHRSX	NM_145177.2	101	0,11,6488	AA,AG,GG		0.0116,0.227,0.0846	probably-damaging	224/331	2161198	11,12987	2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2161198G>A	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"Pseudoautosomal regions / PAR1"	18399	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 6", "short chain dehydrogenase/reductase family 46C, member 1", "dehydrogenase/reductase (SDR family) Y-linked"		"dehydrogenase/reductase (SDR family) X chromosome"			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.670C>T	X.37:g.2161198G>A	ENSP00000334113:p.Arg224Trp						p.R224W	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN			6	722	-		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)	224					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.670C>T	CCDS35195.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.54	1.668376	0.29604	0.00227	1.16E-4	ENSG00000169084	ENST00000334651;ENST00000412516	D;D	0.96136	-3.92;-3.92	1.45	-2.91	0.05631	NAD(P)-binding domain (1);	0.659654	0.14757	U	0.300230	D	0.97368	0.9139	M	0.92412	3.305	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	D	0.93688	0.7004	10	0.87932	D	0	.	8.5009	0.33156	0.0:0.0:0.7677:0.2323	.	224	Q8N5I4	DHRSX_HUMAN	W	224;201	ENSP00000334113:R224W;ENSP00000391778:R201W	ENSP00000334113:R224W	R	-	1	2	DHRSX	2171198	1.000000	0.71417	0.884000	0.34674	0.360000	0.29518	1.248000	0.32827	-0.944000	0.03686	0.054000	0.15206	CGG		0.642	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		14	34	0	0	0	1	0	14	34					A	2161198	G	A	2161198	3	1	435	1	0	0	0	0	1	0	0	0	4499	1086	38	1	330	1	DHRSX	23	2161198	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	446907	2161198	153109362	9039	29964											
DHRSX	207063	broad.mit.edu	37	chrX	2161252	2161252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgctctgggcgtaggctgCgtggggtgagtagcaggcac	5	9	18	9	2	1	1	0	1	1	0	1	1	1	1	0	5	3	6	0	5	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:2161252C>T	ENST00000334651.5	-	6	668	c.616G>A	c.(616-618)Gca>Aca	p.A206T		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	206							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		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)				GCGTAGGCTGCGTGGGGTGAG	0.627																																						ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(616-618)Gca>Aca		dehydrogenase/reductase (SDR family) X-linked							123	105	111					X																	2161252		2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2161252C>T	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"Pseudoautosomal regions / PAR1"	18399	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 6", "short chain dehydrogenase/reductase family 46C, member 1", "dehydrogenase/reductase (SDR family) Y-linked"		"dehydrogenase/reductase (SDR family) X chromosome"			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.616G>A	X.37:g.2161252C>T	ENSP00000334113:p.Ala206Thr						p.A206T	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN			6	668	-		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)	206					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.616G>A	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	C	8.663	0.900988	0.17760	.	.	ENSG00000169084	ENST00000334651;ENST00000412516	D;D	0.95137	-3.62;-3.62	1.45	1.45	0.22620	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.305888	0.29383	U	0.012304	D	0.90906	0.7142	N	0.25332	0.735	0.09310	N	1	D	0.59357	0.985	P	0.52823	0.71	D	0.83844	0.0259	10	0.13853	T	0.58	.	10.968	0.47424	0.0:1.0:0.0:0.0	.	206	Q8N5I4	DHRSX_HUMAN	T	206;183	ENSP00000334113:A206T;ENSP00000391778:A183T	ENSP00000334113:A206T	A	-	1	0	DHRSX	2171252	0.998000	0.40836	0.737000	0.30932	0.336000	0.28762	3.284000	0.51708	0.430000	0.26230	0.054000	0.15206	GCA		0.627	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		10	22	0	0	0	1	0	10	22					T	2161252	C	T	2161252	3	4	435	1	0	0	0	0	1	0	0	0	4499	768	27	1	384	1	DHRSX	23	2161252	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	54	2161252	153109308	9040	29965											
DHRSX	207063	broad.mit.edu	37	chrX	2184850	2184850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagacggtgaccaccctcGcactgtggccaggggaccca	9	4	14	14	2	0	2	0	1	0	1	1	4	0	3	4	5	0	1	4	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:2184850G>A	ENST00000334651.5	-	5	579	c.527C>T	c.(526-528)gCg>gTg	p.A176V	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	176							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		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)				GACCACCCTCGCACTGTGGCC	0.542																																						ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(526-528)gCg>gTg		dehydrogenase/reductase (SDR family) X-linked							381	338	353					X																	2184850		2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2184850G>A	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"Pseudoautosomal regions / PAR1"	18399	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 6", "short chain dehydrogenase/reductase family 46C, member 1", "dehydrogenase/reductase (SDR family) Y-linked"		"dehydrogenase/reductase (SDR family) X chromosome"			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.527C>T	X.37:g.2184850G>A	ENSP00000334113:p.Ala176Val					DHRSX_ENST00000464935.1_5'UTR	p.A176V	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN			5	579	-		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)	176					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.527C>T	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575783	0.45902	.	.	ENSG00000169084	ENST00000334651;ENST00000412516;ENST00000444280	T;T;T	0.23950	1.88;1.88;1.88	2.11	2.11	0.27256	NAD(P)-binding domain (1);	0.149469	0.45126	U	0.000392	T	0.33147	0.0853	N	0.25789	0.76	0.09310	N	0.999991	D	0.76494	0.999	D	0.65573	0.936	T	0.11348	-1.0591	10	0.87932	D	0	.	12.2461	0.54571	0.0:0.0:1.0:0.0	.	176	Q8N5I4	DHRSX_HUMAN	V	176;153;109	ENSP00000334113:A176V;ENSP00000391778:A153V;ENSP00000402741:A109V	ENSP00000334113:A176V	A	-	2	0	DHRSX	2194850	1.000000	0.71417	0.232000	0.24009	0.329000	0.28539	5.253000	0.65452	0.856000	0.35383	0.272000	0.19324	GCG		0.542	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		51	152	0	0	0	1	0	51	152					A	2184850	G	A	2184850	3	1	435	1	0	0	0	0	1	0	0	0	4499	1087	38	1	477	1	DHRSX	23	2184850	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23598	2184850	153085710	9041	29966											
ZBED1	9189	broad.mit.edu	37	chrX	2407778	2407778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctcatagagcatgtacatgGccacggcagactgctggaag	11	8	12	10	1	1	2	1	0	1	2	2	3	1	3	1	3	3	4	1	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:2407778G>A	ENST00000381223.4	-	2	1186	c.983C>T	c.(982-984)gCc>gTc	p.A328V	ZBED1_ENST00000381222.2_Missense_Mutation_p.A328V|ZBED1_ENST00000381218.3_Missense_Mutation_p.A328V|ZBED1_ENST00000515319.1_5'Flank|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	328					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATGTACATGGCCACGGCAGA	0.627																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(982-984)gCc>gTc		zinc finger, BED-type containing 1							72	62	65					X																	2407778		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407778G>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.983C>T	X.37:g.2407778G>A	ENSP00000370621:p.Ala328Val					DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.A328V|ZBED1_ENST00000381218.3_Missense_Mutation_p.A328V	p.A328V	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	1186	-		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)	328					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.983C>T	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949292	0.34377	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.22539	1.95;1.95;1.95	3.06	3.06	0.35304	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000017	T	0.14270	0.0345	.	.	.	0.09310	N	1	P	0.47034	0.889	B	0.41036	0.346	T	0.15407	-1.0438	9	0.15952	T	0.53	-31.8168	13.6519	0.62316	0.0:0.0:1.0:0.0	.	328	O96006	ZBED1_HUMAN	V	328	ENSP00000370621:A328V;ENSP00000370620:A328V;ENSP00000370616:A328V	ENSP00000370616:A328V	A	-	2	0	ZBED1	2417778	0.983000	0.35010	0.616000	0.29078	0.202000	0.24057	3.665000	0.54532	1.155000	0.42497	0.519000	0.50382	GCC		0.627	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		17	28	0	0	0	1	0	17	28					A	2407778	G	A	2407778	3	1	435	1	0	0	0	0	1	0	0	0	17514	1203	42	3	1105	3	ZBED1	23	2407778	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	222928	2407778	152862782	9042	29967											
ZBED1	9189	broad.mit.edu	37	chrX	2407908	2407908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcagggcatgtgcactgCgacgtccagcagggagcacg	9	4	16	12	3	0	0	0	0	0	0	1	2	1	1	1	3	4	5	1	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:2407908C>T	ENST00000381223.4	-	2	1056	c.853G>A	c.(853-855)Gca>Aca	p.A285T	ZBED1_ENST00000381222.2_Missense_Mutation_p.A285T|ZBED1_ENST00000381218.3_Missense_Mutation_p.A285T|ZBED1_ENST00000515319.1_5'Flank|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	285					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATGTGCACTGCGACGTCCAGC	0.637																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(853-855)Gca>Aca		zinc finger, BED-type containing 1							117	107	110					X																	2407908		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407908C>T	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.853G>A	X.37:g.2407908C>T	ENSP00000370621:p.Ala285Thr					DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.A285T|ZBED1_ENST00000381218.3_Missense_Mutation_p.A285T	p.A285T	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	1056	-		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)	285					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.853G>A	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	c	2.076	-0.411960	0.04799	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	.	.	.	3.19	1.1	0.20463	Ribonuclease H-like (1);	1.823150	0.04833	N	0.439042	T	0.18467	0.0443	.	.	.	0.09310	N	1	B	0.20261	0.043	B	0.12837	0.008	T	0.20207	-1.0282	8	0.08381	T	0.77	-9.9506	6.73	0.23379	0.1239:0.1923:0.6838:0.0	.	285	O96006	ZBED1_HUMAN	T	285	.	ENSP00000370616:A285T	A	-	1	0	ZBED1	2417908	0.974000	0.33945	0.006000	0.13384	0.009000	0.06853	0.105000	0.15333	-0.282000	0.09128	0.515000	0.50301	GCA		0.637	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		36	68	0	0	0	1	0	36	68					T	2407908	C	T	2407908	3	4	435	1	0	0	0	0	1	0	0	0	17514	768	27	1	1235	1	ZBED1	23	2407908	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	130	2407908	152862652	9043	29968											
MXRA5	25878	broad.mit.edu	37	chrX	3235284	3235284	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggtgcccgtgatgcgCgcgttggctgctgcacgctg	3	8	19	11	5	0	1	0	1	0	0	0	2	0	2	1	4	4	5	1	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:3235284C>T	ENST00000217939.6	-	6	6592	c.6438G>A	c.(6436-6438)gcG>gcA	p.A2146A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2146	Ig-like C2-type 6.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCGTGATGCGCGCGTTGGCTG	0.706																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6436-6438)gcG>gcA		matrix-remodelling associated 5							31	25	27					X																	3235284		2202	4299	6501	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3235284C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6438G>A	X.37:g.3235284C>T							p.A2146A	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			6	6592	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2146			Ig-like C2-type 6.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.6438G>A	CCDS14124.1																																																																																				0.706	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		5	2	0	0	0	1	0	5	2					T	3235284	C	T	3235284	2	4	435	1	0	0	0	0	0	0	0	1	10003	755	27	1		1	MXRA5	23	3235284	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	827376	3235284	152035276	9044	29969											
MXRA5	25878	broad.mit.edu	37	chrX	3240297	3240297	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccttcgagaagggtgagtGctcatggtggatgacggagc	8	9	16	8	2	1	3	1	2	0	1	3	6	2	5	1	4	2	1	1	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:3240297G>A	ENST00000217939.6	-	5	3583	c.3429C>T	c.(3427-3429)agC>agT	p.S1143S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1143						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGGGTGAGTGCTCATGGTGG	0.532																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(3427-3429)agC>agT		matrix-remodelling associated 5							109	99	102					X																	3240297		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3240297G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3429C>T	X.37:g.3240297G>A							p.S1143S	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	3583	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1143					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.3429C>T	CCDS14124.1																																																																																				0.532	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		9	20	0	0	0	1	0	9	20					A	3240297	G	A	3240297	2	1	435	1	0	0	0	0	0	0	0	1	10003	1310	46	3		3	MXRA5	23	3240297	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5013	3240297	152030263	9045	29970											
NLGN4X	57502	broad.mit.edu	37	chrX	5811651	5811651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaggccacttcttcaaagCggttgggttttgtgtgaatg	8	13	12	8	1	2	1	1	1	1	0	2	1	2	1	2	3	1	2	2	3	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:5811651C>T	ENST00000381095.3	-	6	2285	c.1658G>A	c.(1657-1659)cGc>cAc	p.R553H	NLGN4X_ENST00000381092.1_Missense_Mutation_p.R553H|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R553H|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R573H|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R553H	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	553					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TTCTTCAAAGCGGTTGGGTTT	0.443																																						ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(1657-1659)cGc>cAc		neuroligin 4, X-linked							132	125	127					X																	5811651		2203	4300	6503	SO:0001583	missense	57502				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	g.chrX:5811651C>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1658G>A	X.37:g.5811651C>T	ENSP00000370485:p.Arg553His					NLGN4X_ENST00000381092.1_Missense_Mutation_p.R553H|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R573H|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R553H|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R553H	p.R553H	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			6	2285	-			553					Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.1658G>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075296	0.76415	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	4.0	4.0	0.46444	Carboxylesterase, type B (1);	0.000000	0.33127	N	0.005255	D	0.82737	0.5102	M	0.85630	2.765	0.52501	D	0.999957	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.985;0.97	D	0.86342	0.1705	10	0.87932	D	0	.	14.5624	0.68151	0.0:1.0:0.0:0.0	.	610;553;573	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	H	553;573;553;553;553	ENSP00000370485:R553H;ENSP00000370483:R573H;ENSP00000275857:R553H;ENSP00000370482:R553H;ENSP00000439203:R553H	ENSP00000275857:R553H	R	-	2	0	NLGN4X	5821651	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.722000	0.74735	1.597000	0.50072	0.513000	0.50165	CGC		0.443	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		30	7	0	0	0	1	0	30	7					T	5811651	C	T	5811651	3	4	435	1	0	0	0	0	1	0	0	0	10464	768	27	1	796	1	NLGN4X	23	5811651	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2571354	5811651	149458909	9046	29971											
NLGN4X	57502	broad.mit.edu	37	chrX	5821329	5821329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaagtaggtgggggagcCgtactgcgcgtgcaggtcgg	8	7	19	7	4	0	1	0	0	0	1	1	2	0	2	1	5	4	3	1	5	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:5821329C>T	ENST00000381095.3	-	5	2017	c.1390G>A	c.(1390-1392)Ggc>Agc	p.G464S	NLGN4X_ENST00000381092.1_Missense_Mutation_p.G464S|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G464S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G484S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G464S	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	464					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTGGGGGAGCCGTACTGCGCG	0.612																																						ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(1390-1392)Ggc>Agc		neuroligin 4, X-linked							40	36	37					X																	5821329		2203	4296	6499	SO:0001583	missense	57502				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	g.chrX:5821329C>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1390G>A	X.37:g.5821329C>T	ENSP00000370485:p.Gly464Ser					NLGN4X_ENST00000381092.1_Missense_Mutation_p.G464S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G484S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G464S|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G464S	p.G464S	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			5	2017	-			464					Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.1390G>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119162	0.56505	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	3.93	3.93	0.45458	Carboxylesterase, type B (1);	.	.	.	.	T	0.71600	0.3359	M	0.66439	2.03	0.58432	D	0.999999	D;P;D	0.76494	0.999;0.807;0.998	P;P;D	0.65874	0.889;0.545;0.939	T	0.75175	-0.3410	9	0.56958	D	0.05	.	14.4946	0.67678	0.0:1.0:0.0:0.0	.	521;464;484	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	S	464;484;464;464;464	ENSP00000370485:G464S;ENSP00000370483:G484S;ENSP00000275857:G464S;ENSP00000370482:G464S;ENSP00000439203:G464S	ENSP00000275857:G464S	G	-	1	0	NLGN4X	5831329	1.000000	0.71417	0.753000	0.31225	0.034000	0.12701	6.722000	0.74735	1.579000	0.49836	0.600000	0.82982	GGC		0.612	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		8	20	0	0	0	1	0	8	20					T	5821329	C	T	5821329	3	4	435	1	0	0	0	0	1	0	0	0	10464	652	23	2	1068	2	NLGN4X	23	5821329	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9678	5821329	149449231	9047	29972											
HDHD1A	8226	broad.mit.edu	37	chrX	6968396	6968396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcctgcagggaattcagcaCcagggtggcctttgttgtca	7	11	13	10	0	2	0	2	0	0	0	3	1	3	1	3	3	2	3	3	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:6968396C>T	ENST00000381077.5	-	4	704	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	HDHD1_ENST00000412827.2_Missense_Mutation_p.V167M|HDHD1_ENST00000424830.2_Missense_Mutation_p.V233M	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	210					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						GAATTCAGCACCAGGGTGGCC	0.607																																						ENST00000381077.5																			0				breast(2)|large_intestine(1)|lung(3)	6						c.(628-630)Gtg>Atg		haloacid dehalogenase-like hydrolase domain containing 1							73	72	73					X																	6968396		1925	4106	6031	SO:0001583	missense	8226				nucleotide metabolic process		metal ion binding|phosphatase activity	g.chrX:6968396C>T	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"family with sequence similarity 16, member A, X-linked", "haloacid dehalogenase-like hydrolase domain containing 1A"	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.628G>A	X.37:g.6968396C>T	ENSP00000370467:p.Val210Met					HDHD1_ENST00000412827.2_Missense_Mutation_p.V167M|HDHD1_ENST00000424830.2_Missense_Mutation_p.V233M	p.V210M	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN			4	704	-			210					B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	ENST00000381077.5	37	c.628G>A	CCDS48075.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706492	0.48412	.	.	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000412827;ENST00000424830	T;T;T	0.35789	1.29;1.29;1.29	4.45	3.56	0.40772	HAD-like domain (2);	0.308295	0.31257	N	0.007969	T	0.49712	0.1573	M	0.89163	3.01	0.80722	D	1	P;P;P	0.52842	0.553;0.458;0.956	B;B;P	0.46796	0.349;0.313;0.527	T	0.58532	-0.7620	10	0.62326	D	0.03	-20.9369	11.2894	0.49241	0.0:0.8181:0.1819:0.0	.	167;233;210	Q08623-2;E9PAV8;Q08623	.;.;HDHD1_HUMAN	M	210;226;167;233	ENSP00000370467:V210M;ENSP00000406260:V167M;ENSP00000396452:V233M	ENSP00000370467:V210M	V	-	1	0	HDHD1	6978396	0.856000	0.29760	0.659000	0.29680	0.520000	0.34377	0.531000	0.23052	0.670000	0.31165	0.600000	0.82982	GTG		0.607	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		10	2	0	0	0	1	0	10	2					T	6968396	C	T	6968396	3	4	435	1	0	0	0	0	1	0	0	0	7022	507	18	3	62	3	HDHD1A	23	6968396	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1147067	6968396	148302164	9048	29973											
KAL1	3730	broad.mit.edu	37	chrX	8502379	8502379	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgtgctgaagagggtggGagctccggcgtccggaacgt	6	8	18	9	4	0	2	0	1	0	1	2	4	2	4	2	4	3	2	2	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:8502379G>T	ENST00000262648.3	-	13	2114	c.1965C>A	c.(1963-1965)ctC>ctA	p.L655L	KAL1_ENST00000481896.1_5'Flank	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	655	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						AAGAGGGTGGGAGCTCCGGCG	0.547																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(1963-1965)ctC>ctA		Kallmann syndrome 1 sequence							49	41	44					X																	8502379		2203	4300	6503	SO:0001819	synonymous_variant	3730				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	g.chrX:8502379G>T		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1965C>A	X.37:g.8502379G>T							p.L655L	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			13	2114	-			655					B2RPF8	Silent	SNP	ENST00000262648.3	37	c.1965C>A	CCDS14130.1																																																																																				0.547	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		14	2	1	0	2.32078e-09	1	2.46314e-09	14	2					T	8502379	G	T	8502379	2	4	435	1	0	0	0	0	0	0	0	1	7974	1161	41	5		5	KAL1	23	8502379	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1533983	8502379	146768181	9049	29974											
KAL1	3730	broad.mit.edu	37	chrX	8522091	8522091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcgtcgtctttgaaaaGggagttgtgtttgaattcca	8	15	13	5	2	1	2	0	2	1	0	4	3	2	3	1	2	0	2	1	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:8522091G>A	ENST00000262648.3	-	9	1405	c.1256C>T	c.(1255-1257)cCt>cTt	p.P419L		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	419					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TCTTTGAAAAGGGAGTTGTGT	0.413																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(1255-1257)cCt>cTt		Kallmann syndrome 1 sequence							126	115	119					X																	8522091		2203	4300	6503	SO:0001583	missense	3730				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	g.chrX:8522091G>A		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1256C>T	X.37:g.8522091G>A	ENSP00000262648:p.Pro419Leu						p.P419L	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			9	1405	-			419					B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	c.1256C>T	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874418	0.33069	.	.	ENSG00000011201	ENST00000262648	T	0.75260	-0.92	4.37	3.5	0.40072	.	0.190201	0.46442	D	0.000288	T	0.71863	0.3390	M	0.73598	2.24	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.61535	-0.7043	10	0.37606	T	0.19	-5.2772	11.378	0.49739	0.0:0.1804:0.8196:0.0	.	419	P23352	KALM_HUMAN	L	419	ENSP00000262648:P419L	ENSP00000262648:P419L	P	-	2	0	KAL1	8482091	0.951000	0.32395	0.002000	0.10522	0.888000	0.51559	2.902000	0.48703	0.663000	0.31027	0.544000	0.68410	CCT		0.413	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		30	3	0	0	0	1	0	30	3					A	8522091	G	A	8522091	3	1	435	1	0	0	0	0	1	0	0	0	7974	1000	35	3	810	3	KAL1	23	8522091	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19712	8522091	146748469	9050	29975											
SHROOM2	357	broad.mit.edu	37	chrX	9912932	9912932	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcaataatttggacgaCggcgcttctcccggtgatcg	7	10	11	13	5	2	1	1	1	1	0	4	3	2	2	2	3	0	1	2	3	2	3	rs374782377		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:9912932C>T	ENST00000380913.3	+	9	4653	c.4563C>T	c.(4561-4563)gaC>gaT	p.D1521D	SHROOM2_ENST00000418909.2_Silent_p.D356D	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1521	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				ATTTGGACGACGGCGCTTCTC	0.557													C|||	1	0.000264901	8e-04	0	3775	,	,		13729	0		0	False		,,,				2504	0					ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(4561-4563)gaC>gaT		shroom family member 2				1,3834		0,1,1631,571	35	31	32		4563	1	0	X		32	0,6728		0,0,2428,1872	no	coding-synonymous	SHROOM2	NM_001649.2		0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095		1521/1617	9912932	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	357				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	g.chrX:9912932C>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4563C>T	X.37:g.9912932C>T						SHROOM2_ENST00000418909.2_Silent_p.D356D	p.D1521D	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			9	4653	+		Hepatocellular(5;0.000888)	1521			ASD2.		B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.4563C>T	CCDS14135.1																																																																																				0.557	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		3	1	0	0	0	1	0	3	1					T	9912932	C	T	9912932	2	4	435	1	0	0	0	0	0	0	0	1	14294	535	19	1		1	SHROOM2	23	9912932	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1390841	9912932	145357628	9051	29976											
FRMPD4	9758	broad.mit.edu	37	chrX	12704240	12704240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttaaggacaactcacttCtttttatgccaaatgttttg	10	17	6	8	0	2	0	1	0	1	0	2	1	2	1	1	1	2	2	1	1	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:12704240C>A	ENST00000380682.1	+	7	1104	c.598C>A	c.(598-600)Ctt>Att	p.L200I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	200					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CAACTCACTTCTTTTTATGCC	0.363																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(598-600)Ctt>Att		FERM and PDZ domain containing 4							119	105	110					X																	12704240		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12704240C>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.598C>A	X.37:g.12704240C>A	ENSP00000370057:p.Leu200Ile						p.L200I	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			7	1104	+			200					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.598C>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942611	0.92526	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.08282	3.11	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	T	0.27765	0.0683	L	0.60455	1.87	0.42214	D	0.991822	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.989	T	0.00607	-1.1647	10	0.66056	D	0.02	.	18.6898	0.91578	0.0:1.0:0.0:0.0	.	192;200	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	I	200;191;189	ENSP00000370057:L200I	ENSP00000304583:L189I	L	+	1	0	FRMPD4	12614161	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.397000	0.79903	2.357000	0.79964	0.600000	0.82982	CTT		0.363	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		24	6	1	0	2.48779e-11	1	2.67617e-11	24	6					A	12704240	C	A	12704240	3	1	435	1	0	0	0	0	1	0	0	0	6059	913	32	5	624	5	FRMPD4	23	12704240	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2791308	12704240	142566320	9052	29977											
TLR7	51284	broad.mit.edu	37	chrX	12903784	12903784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgatcgtggactgcacaGacaagcatttgacagaaatt	14	10	10	7	1	0	4	0	2	0	2	1	5	0	5	0	1	2	2	0	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:12903784G>T	ENST00000380659.3	+	3	296	c.157G>T	c.(157-159)Gac>Tac	p.D53Y		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	53					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	GGACTGCACAGACAAGCATTT	0.483																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(157-159)Gac>Tac		toll-like receptor 7	Imiquimod(DB00724)						164	148	153					X																	12903784		2203	4300	6503	SO:0001583	missense	51284				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	g.chrX:12903784G>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.157G>T	X.37:g.12903784G>T	ENSP00000370034:p.Asp53Tyr						p.D53Y	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	296	+			53					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.157G>T	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	8.608	0.888523	0.17540	.	.	ENSG00000196664	ENST00000380659	T	0.54479	0.57	5.92	4.12	0.48240	Leucine-rich repeat-containing N-terminal (1);	0.114767	0.64402	D	0.000019	T	0.45357	0.1338	L	0.46614	1.455	0.58432	D	0.999991	B	0.13145	0.007	B	0.15870	0.014	T	0.40739	-0.9547	10	0.49607	T	0.09	.	11.406	0.49898	0.0703:0.1223:0.8073:0.0	.	53	Q9NYK1	TLR7_HUMAN	Y	53	ENSP00000370034:D53Y	ENSP00000370034:D53Y	D	+	1	0	TLR7	12813705	1.000000	0.71417	0.991000	0.47740	0.020000	0.10135	4.699000	0.61796	1.250000	0.43966	-0.233000	0.12211	GAC		0.483	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		24	50	1	0	1.66031e-10	1	1.77558e-10	24	50					T	12903784	G	T	12903784	3	4	435	1	0	0	0	0	1	0	0	0	15953	942	33	5	163	5	TLR7	23	12903784	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	199544	12903784	142366776	9053	29978											
TLR7	51284	broad.mit.edu	37	chrX	12904067	12904067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagataccgcagggcctccCgcctagcttacagcttctca	9	8	9	15	2	1	1	1	0	1	1	3	2	2	1	4	1	4	3	4	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:12904067C>T	ENST00000380659.3	+	3	579	c.440C>T	c.(439-441)cCg>cTg	p.P147L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	147					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CAGGGCCTCCCGCCTAGCTTA	0.458																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(439-441)cCg>cTg		toll-like receptor 7	Imiquimod(DB00724)						55	56	56					X																	12904067		2203	4300	6503	SO:0001583	missense	51284				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	g.chrX:12904067C>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.440C>T	X.37:g.12904067C>T	ENSP00000370034:p.Pro147Leu						p.P147L	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	579	+			147					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.440C>T	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.008658	0.54361	.	.	ENSG00000196664	ENST00000380659	T	0.01313	5.02	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.19712	-1.0297	10	0.87932	D	0	.	18.7273	0.91718	0.0:1.0:0.0:0.0	.	147	Q9NYK1	TLR7_HUMAN	L	147	ENSP00000370034:P147L	ENSP00000370034:P147L	P	+	2	0	TLR7	12813988	1.000000	0.71417	0.392000	0.26245	0.026000	0.11368	7.766000	0.85320	2.368000	0.80403	0.589000	0.80489	CCG		0.458	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		41	8	0	0	0	1	0	41	8					T	12904067	C	T	12904067	3	4	435	1	0	0	0	0	1	0	0	0	15953	652	23	2	446	2	TLR7	23	12904067	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	283	12904067	142366493	9054	29979											
TLR7	51284	broad.mit.edu	37	chrX	12906105	12906105	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaagggccaaagtgtgatCtccctggatctgtacacctg	10	9	10	12	0	2	1	0	1	2	0	3	2	2	2	3	2	1	1	3	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:12906105C>T	ENST00000380659.3	+	3	2617	c.2478C>T	c.(2476-2478)atC>atT	p.I826I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	826					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AAAGTGTGATCTCCCTGGATC	0.478																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(2476-2478)atC>atT		toll-like receptor 7	Imiquimod(DB00724)						193	154	167					X																	12906105		2203	4300	6503	SO:0001819	synonymous_variant	51284				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	g.chrX:12906105C>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2478C>T	X.37:g.12906105C>T							p.I826I	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	2617	+			826					D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	c.2478C>T	CCDS14151.1																																																																																				0.478	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		40	14	0	0	0	1	0	40	14					T	12906105	C	T	12906105	2	4	435	1	0	0	0	0	0	0	0	1	15953	903	32	3		3	TLR7	23	12906105	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2038	12906105	142364455	9055	29980											
EGFL6	25975	broad.mit.edu	37	chrX	13635866	13635866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctatccctgaaaattctGtgaaggaagtcctcagagca	13	10	9	9	0	2	3	1	2	1	1	4	4	4	4	2	1	2	2	2	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:13635866G>A	ENST00000361306.1	+	8	1053	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	EGFL6_ENST00000380602.3_Missense_Mutation_p.V266M	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	266					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TGAAAATTCTGTGAAGGAAGT	0.333																																						ENST00000361306.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						c.(796-798)Gtg>Atg		EGF-like-domain, multiple 6							113	117	115					X																	13635866		2203	4299	6502	SO:0001583	missense	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13635866G>A	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"MAM and EGF domain containing"	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.796G>A	X.37:g.13635866G>A	ENSP00000355126:p.Val266Met					EGFL6_ENST00000380602.3_Missense_Mutation_p.V266M	p.V266M	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN			8	1053	+			266					B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	ENST00000361306.1	37	c.796G>A	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021399	0.54576	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	T;T	0.71579	-0.58;-0.48	5.74	5.74	0.90152	.	0.204155	0.41500	D	0.000868	T	0.68375	0.2994	N	0.08118	0	0.49389	D	0.999781	D;D	0.67145	0.992;0.996	P;P	0.59761	0.863;0.86	T	0.72384	-0.4310	10	0.37606	T	0.19	.	18.9891	0.92784	0.0:0.0:1.0:0.0	.	266;266	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	M	266	ENSP00000355126:V266M;ENSP00000369976:V266M	ENSP00000355126:V266M	V	+	1	0	EGFL6	13545787	1.000000	0.71417	0.998000	0.56505	0.187000	0.23431	3.228000	0.51270	2.433000	0.82419	0.589000	0.80489	GTG		0.333	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		30	36	0	0	0	1	0	30	36					A	13635866	G	A	13635866	3	1	435	1	0	0	0	0	1	0	0	0	4963	1377	48	3	826	3	EGFL6	23	13635866	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	729761	13635866	141634694	9056	29981											
GPM6B	2824	broad.mit.edu	37	chrX	13792708	13792708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactcttaaacttcaaaacCgcatagttatatgtagtagc	14	12	6	9	2	2	0	1	0	1	0	2	1	2	0	1	0	3	4	1	0	9	7	rs199562978		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:13792708C>T	ENST00000356942.5	-	7	1194	c.753G>A	c.(751-753)gcG>gcA	p.A251A	GPM6B_ENST00000316715.4_Intron|GPM6B_ENST00000355135.2_Silent_p.A291A|GPM6B_ENST00000454189.2_Silent_p.A232A|GPM6B_ENST00000398361.3_Silent_p.A165A|GPM6B_ENST00000493677.1_Intron	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	251					cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						ACTTCAAAACCGCATAGTTAT	0.418																																						ENST00000454189.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						c.(694-696)gcG>gcA		glycoprotein M6B		C	,,,	0,3835		0,0,0,1632,571	113	101	105		696,,873,753	1.7	1	X		105	3,6725		0,2,1,2426,1871	no	coding-synonymous,intron,coding-synonymous,coding-synonymous	GPM6B	NM_001001994.1,NM_001001995.1,NM_001001996.1,NM_005278.3	,,,	0,2,1,4058,2442	TT,TC,T,CC,C		0.0446,0.0,0.0284	,,,	232/247,,291/306,251/266	13792708	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	2824				cell differentiation|nervous system development	integral to membrane		g.chrX:13792708C>T		CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653			4461	protein-coding gene	gene with protein product		300051				8661015	Standard	NM_001001995		Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000356942.5:c.753G>A	X.37:g.13792708C>T						GPM6B_ENST00000356942.5_Silent_p.A251A|GPM6B_ENST00000398361.3_Silent_p.A165A|GPM6B_ENST00000493677.1_Intron|GPM6B_ENST00000355135.2_Silent_p.A291A|GPM6B_ENST00000316715.4_Intron	p.A232A	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN			7	823	-			251					O76077|Q86X43|Q8N956	Silent	SNP	ENST00000356942.5	37	c.696G>A	CCDS14158.1																																																																																				0.418	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055822.1	NM_001001995		32	5	0	0	0	1	0	32	5					T	13792708	C	T	13792708	2	4	435	1	0	0	0	0	0	0	0	1	6616	639	23	2		2	GPM6B	23	13792708	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	156842	13792708	141477852	9057	29982											
GRPR	2925	broad.mit.edu	37	chrX	16170625	16170625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacagttcaacactcagctgCtctgttgccagcctggcctg	8	10	9	14	0	3	0	2	0	1	0	3	0	3	0	3	1	6	4	3	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:16170625C>T	ENST00000380289.2	+	3	1410	c.1012C>T	c.(1012-1014)Ctc>Ttc	p.L338F	RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000435789.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	338					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CACTCAGCTGCTCTGTTGCCA	0.572																																						ENST00000380289.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(1012-1014)Ctc>Ttc		gastrin-releasing peptide receptor							147	119	128					X																	16170625		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16170625C>T		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.1012C>T	X.37:g.16170625C>T	ENSP00000369643:p.Leu338Phe						p.L338F	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN			3	1410	+	Hepatocellular(33;0.183)		338					B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.1012C>T	CCDS14174.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.667|1.667	-0.509981|-0.509981	0.04231|0.04231	.|.	.|.	ENSG00000126010|ENSG00000126010	ENST00000535371|ENST00000380289	.|T	.|0.38077	.|1.16	5.47|5.47	3.37|3.37	0.38596|0.38596	.|.	.|0.573768	.|0.18563	.|N	.|0.137557	T|T	0.08268|0.08268	0.0206|0.0206	N|N	0.00500|0.00500	-1.43|-1.43	0.31034|0.31034	N|N	0.71713|0.71713	.|B	.|0.06786	.|0.001	.|B	.|0.06405	.|0.002	T|T	0.19418|0.19418	-1.0306|-1.0306	6|10	0.17832|0.09843	T|T	0.49|0.71	-22.2768|-22.2768	3.4143|3.4143	0.07369|0.07369	0.2137:0.5136:0.0:0.2727|0.2137:0.5136:0.0:0.2727	.|.	.|338	.|P30550	.|GRPR_HUMAN	V|F	126|338	.|ENSP00000369643:L338F	ENSP00000442239:A126V|ENSP00000369643:L338F	A|L	+|+	2|1	0|0	GRPR|GRPR	16080546|16080546	0.995000|0.995000	0.38212|0.38212	0.999000|0.999000	0.59377|0.59377	0.897000|0.897000	0.52465|0.52465	1.372000|1.372000	0.34261|0.34261	1.024000|1.024000	0.39682|0.39682	0.600000|0.600000	0.82982|0.82982	GCT|CTC		0.572	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		40	12	0	0	0	1	0	40	12					T	16170625	C	T	16170625	3	4	435	1	0	0	0	0	1	0	0	0	6808	797	28	3	1022	3	GRPR	23	16170625	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2377917	16170625	139099935	9058	29983											
CDKL5	6792	broad.mit.edu	37	chrX	18627658	18627658	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacacctatacaatgatcCtgtgccaaggagagttggta	13	10	10	8	0	0	3	0	1	0	2	1	4	1	3	3	2	2	2	3	2	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:18627658C>A	ENST00000379989.3	+	15	2405	c.2120C>A	c.(2119-2121)cCt>cAt	p.P707H	CDKL5_ENST00000379996.3_Missense_Mutation_p.P707H|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	707					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TACAATGATCCTGTGCCAAGG	0.483																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(2119-2121)cCt>cAt		cyclin-dependent kinase-like 5							135	114	121					X																	18627658		2203	4300	6503	SO:0001583	missense	6792				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	g.chrX:18627658C>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2120C>A	X.37:g.18627658C>A	ENSP00000369325:p.Pro707His					CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.P707H	p.P707H	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			15	2405	+	Hepatocellular(33;0.183)		707					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2120C>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.633304	0.87660	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.70869	-0.52;-0.52	6.05	6.05	0.98169	.	0.141352	0.64402	D	0.000002	T	0.68165	0.2971	N	0.19112	0.55	0.33582	D	0.599959	D	0.63880	0.993	P	0.49999	0.628	T	0.77568	-0.2539	10	0.87932	D	0	-20.2425	19.48	0.95005	0.0:1.0:0.0:0.0	.	707	O76039	CDKL5_HUMAN	H	707	ENSP00000369332:P707H;ENSP00000369325:P707H	ENSP00000369325:P707H	P	+	2	0	CDKL5	18537579	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.275000	0.78548	2.554000	0.86153	0.591000	0.81541	CCT		0.483	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		38	11	1	0	1.04594e-18	1	1.1551e-18	38	11					A	18627658	C	A	18627658	3	1	435	1	0	0	0	0	1	0	0	0	3157	681	24	5	2170	5	CDKL5	23	18627658	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2457033	18627658	136642902	9059	29984											
PDHA1	5160	broad.mit.edu	37	chrX	19369472	19369472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacagcctaccgggctcacgGctttactttcacccggggcc	6	8	10	17	3	2	0	2	0	0	0	2	0	2	0	4	4	3	2	4	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:19369472G>A	ENST00000422285.2	+	4	470	c.365G>A	c.(364-366)gGc>gAc	p.G122D	PDHA1_ENST00000379805.3_Missense_Mutation_p.G122D|PDHA1_ENST00000379806.5_Missense_Mutation_p.G160D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G122D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G129D			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	122					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CGGGCTCACGGCTTTACTTTC	0.507																																						ENST00000379806.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18						c.(478-480)gGc>gAc		pyruvate dehydrogenase (lipoamide) alpha 1	NADH(DB00157)						108	100	103					X																	19369472		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19369472G>A		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.365G>A	X.37:g.19369472G>A	ENSP00000394382:p.Gly122Asp					PDHA1_ENST00000540249.1_Missense_Mutation_p.G122D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G129D|PDHA1_ENST00000422285.2_Missense_Mutation_p.G122D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G122D	p.G160D	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN			5	624	+	Hepatocellular(33;0.183)		122					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.479G>A	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498027	0.85069	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000422285;ENST00000355808;ENST00000379805	D;D;D;D;D;D;D	0.97620	-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46	5.54	5.54	0.83059	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99260	0.9742	H	0.99668	4.69	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.995;0.996;0.999;0.996	D	0.98433	1.0583	10	0.87932	D	0	-6.4649	15.058	0.71930	0.0:0.1384:0.8616:0.0	.	122;129;122;160;122	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	D	160;129;122;160;122;129;122	ENSP00000369134:G160D;ENSP00000438550:G129D;ENSP00000440761:G122D;ENSP00000406473:G160D;ENSP00000394382:G122D;ENSP00000348062:G129D;ENSP00000369133:G122D	ENSP00000348062:G129D	G	+	2	0	PDHA1	19279393	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.501000	0.81600	2.475000	0.83589	0.529000	0.55759	GGC		0.507	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			5	73	0	0	0	1	0	5	73					A	19369472	G	A	19369472	3	1	435	1	0	0	0	0	1	0	0	0	11664	1203	42	3	518	3	PDHA1	23	19369472	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	741814	19369472	135901088	9060	29985											
MAP3K15	389840	broad.mit.edu	37	chrX	19482401	19482401	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcatgcacagcgggcccaGgatgttgtcccagttgggct	7	8	15	11	1	0	0	0	0	0	0	1	1	1	1	2	4	2	5	2	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:19482401G>A	ENST00000338883.4	-	4	648	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	MAP3K15_ENST00000469203.2_Silent_p.L49L|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	217							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AGCGGGCCCAGGATGTTGTCC	0.547																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(649-651)Ctg>Ttg		mitogen-activated protein kinase kinase kinase 15							113	90	97					X																	19482401		1568	3582	5150	SO:0001819	synonymous_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19482401G>A	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.649C>T	X.37:g.19482401G>A						MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.L49L	p.L217L	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			4	648	-	Hepatocellular(33;0.183)		217					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	37	c.649C>T																																																																																					0.547	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		16	6	0	0	0	1	0	16	6					A	19482401	G	A	19482401	2	1	435	1	0	0	0	0	0	0	0	1	9249	991	35	3		3	MAP3K15	23	19482401	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	112929	19482401	135788159	9061	29986											
RPS6KA3	6197	broad.mit.edu	37	chrX	20222195	20222195	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagctgcctagcatcagaGcctgagatttttttaactaa	13	13	7	8	0	1	2	1	1	0	2	1	3	1	2	2	0	5	2	2	0	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:20222195G>T	ENST00000379565.3	-	4	477	c.270C>A	c.(268-270)ggC>ggA	p.G90G	RPS6KA3_ENST00000540702.1_Silent_p.G62G|RPS6KA3_ENST00000544447.1_Silent_p.G62G|RPS6KA3_ENST00000379548.4_Silent_p.G61G	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	90	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	TAGCATCAGAGCCTGAGATTT	0.333																																						ENST00000379565.3																			0				breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						c.(268-270)ggC>ggA		ribosomal protein S6 kinase, 90kDa, polypeptide 3							115	106	109					X																	20222195		2203	4300	6503	SO:0001819	synonymous_variant	6197				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	g.chrX:20222195G>T	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"ribosomal protein S6 kinase, 90kD, polypeptide 3", "mental retardation, X-linked 19", "Coffin-Lowry syndrome"	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.270C>A	X.37:g.20222195G>T						RPS6KA3_ENST00000544447.1_Silent_p.G62G|RPS6KA3_ENST00000540702.1_Silent_p.G62G|RPS6KA3_ENST00000379548.4_Silent_p.G61G	p.G90G	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN			4	477	-			90			Protein kinase 1.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Silent	SNP	ENST00000379565.3	37	c.270C>A	CCDS14197.1																																																																																				0.333	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		5	57	1	0	3.59834e-05	1	3.7043e-05	5	57					T	20222195	G	T	20222195	2	4	435	1	0	0	0	0	0	0	0	1	13652	958	34	5		5	RPS6KA3	23	20222195	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	739794	20222195	135048365	9062	29987											
ZNF645	158506	broad.mit.edu	37	chrX	22291617	22291617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatctctgacatccctaaaaGactgcaagacagggaccatc	15	7	7	12	0	1	3	0	1	1	2	4	4	2	4	2	1	1	1	2	1	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:22291617G>A	ENST00000323684.1	+	1	553	c.509G>A	c.(508-510)aGa>aAa	p.R170K		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	170					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ATCCCTAAAAGACTGCAAGAC	0.458																																						ENST00000323684.1																			0				cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(508-510)aGa>aAa		zinc finger protein 645							103	95	98					X																	22291617		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22291617G>A	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.509G>A	X.37:g.22291617G>A	ENSP00000323348:p.Arg170Lys						p.R170K	NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN			1	553	+			170					A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.509G>A	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.899901	0.00517	.	.	ENSG00000175809	ENST00000323684	T	0.30981	1.51	1.65	-3.31	0.04988	.	0.459032	0.21654	U	0.071134	T	0.12390	0.0301	L	0.43923	1.385	0.09310	N	1	P	0.34977	0.478	B	0.20577	0.03	T	0.47209	-0.9135	10	0.05620	T	0.96	.	4.1632	0.10295	0.0:0.158:0.4238:0.4182	.	170	Q8N7E2	ZN645_HUMAN	K	170	ENSP00000323348:R170K	ENSP00000323348:R170K	R	+	2	0	ZNF645	22201538	0.249000	0.23941	0.000000	0.03702	0.001000	0.01503	0.447000	0.21710	-1.103000	0.03019	-1.297000	0.01338	AGA		0.458	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		37	7	0	0	0	1	0	37	7					A	22291617	G	A	22291617	3	1	435	1	0	0	0	0	1	0	0	0	18058	942	33	3	511	3	ZNF645	23	22291617	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2069422	22291617	132978943	9063	29988											
APOO	79135	broad.mit.edu	37	chrX	23876770	23876770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttacctgggcaaacaCgatggcttgttgtggataat	9	14	10	8	1	1	0	0	0	1	0	2	2	1	1	1	3	2	3	1	3	3	5	rs373029808		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:23876770C>T	ENST00000379226.4	-	6	700	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	APOO_ENST00000379220.3_Missense_Mutation_p.V138M	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	157					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						TGGGCAAACACGATGGCTTGT	0.378																																						ENST00000379226.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						c.(469-471)Gtg>Atg		apolipoprotein O							156	132	140					X																	23876770		2203	4300	6503	SO:0001583	missense	79135				lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle		g.chrX:23876770C>T	BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"Apolipoproteins"	28727	protein-coding gene	gene with protein product		300753	"family with sequence similarity 121B"	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.469G>A	X.37:g.23876770C>T	ENSP00000368528:p.Val157Met					APOO_ENST00000379220.3_Missense_Mutation_p.V138M	p.V157M	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN			6	700	-			157					B2R4K9|Q9H3J9	Missense_Mutation	SNP	ENST00000379226.4	37	c.469G>A	CCDS14208.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587907	0.46110	.	.	ENSG00000184831	ENST00000379226;ENST00000439528;ENST00000379220	T;T;T	0.17854	2.25;2.25;2.25	5.53	-9.58	0.00559	.	1.551810	0.04181	N	0.326499	T	0.09730	0.0239	N	0.16903	0.455	0.09310	N	1	P	0.48834	0.916	P	0.44647	0.456	T	0.31447	-0.9943	10	0.41790	T	0.15	-7.3529	5.8982	0.18951	0.1772:0.1168:0.0871:0.6189	.	157	Q9BUR5	APOO_HUMAN	M	157;137;138	ENSP00000368528:V157M;ENSP00000402557:V137M;ENSP00000368522:V138M	ENSP00000368522:V138M	V	-	1	0	APOO	23786691	0.000000	0.05858	0.000000	0.03702	0.286000	0.27126	-0.922000	0.04004	-2.292000	0.00665	-1.228000	0.01579	GTG		0.378	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122		23	2	0	0	0	1	0	23	2					T	23876770	C	T	23876770	3	4	435	1	0	0	0	0	1	0	0	0	813	536	19	1	139	1	APOO	23	23876770	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1585153	23876770	131393790	9064	29989											
ZFX	7543	broad.mit.edu	37	chrX	24225495	24225495	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctggaatgaccatggaCacagagtcggaaattgatcc	12	10	10	9	1	2	3	0	2	2	1	4	6	3	6	2	3	0	0	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:24225495C>T	ENST00000379177.1	+	7	1126	c.699C>T	c.(697-699)gaC>gaT	p.D233D	ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000379188.3_Silent_p.D233D|ZFX_ENST00000304543.5_Silent_p.D233D|ZFX_ENST00000539115.1_Silent_p.D4D|ZFX_ENST00000540034.1_Silent_p.D272D|ZFX_ENST00000338565.3_Intron	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	233					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TGACCATGGACACAGAGTCGG	0.388																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(697-699)gaC>gaT		zinc finger protein, X-linked							158	142	147					X																	24225495		2203	4300	6503	SO:0001819	synonymous_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24225495C>T		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.699C>T	X.37:g.24225495C>T						ZFX_ENST00000379188.3_Silent_p.D233D|ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000539115.1_Silent_p.D4D|ZFX_ENST00000338565.3_Intron|ZFX_ENST00000540034.1_Silent_p.D272D|ZFX_ENST00000304543.5_Silent_p.D233D	p.D233D	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			7	1126	+			233					B9EG97|O43668|Q8WYJ8	Silent	SNP	ENST00000379177.1	37	c.699C>T	CCDS14211.1																																																																																				0.388	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		55	9	0	0	0	1	0	55	9					T	24225495	C	T	24225495	2	4	435	1	0	0	0	0	0	0	0	1	17658	477	17	3		3	ZFX	23	24225495	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	348725	24225495	131045065	9065	29990											
ZFX	7543	broad.mit.edu	37	chrX	24229488	24229488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcataaagaagttggcctgCcctaacaatacttctacaga	15	10	6	10	0	2	2	1	0	1	2	2	2	2	2	2	1	4	1	2	1	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:24229488C>T	ENST00000379177.1	+	11	2840	c.2413C>T	c.(2413-2415)Ccc>Tcc	p.P805S	ZFX_ENST00000379188.3_Missense_Mutation_p.P805S|ZFX_ENST00000304543.5_Missense_Mutation_p.P805S|ZFX_ENST00000539115.1_Missense_Mutation_p.P576S|ZFX_ENST00000540034.1_Missense_Mutation_p.P844S|ZFX_ENST00000338565.3_Missense_Mutation_p.P755S	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	805					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AGTTGGCCTGCCCTAACAATA	0.398																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(2413-2415)Ccc>Tcc		zinc finger protein, X-linked							39	33	35					X																	24229488		2202	4296	6498	SO:0001583	missense	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24229488C>T		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.2413C>T	X.37:g.24229488C>T	ENSP00000368475:p.Pro805Ser					ZFX_ENST00000379188.3_Missense_Mutation_p.P805S|ZFX_ENST00000539115.1_Missense_Mutation_p.P576S|ZFX_ENST00000338565.3_Missense_Mutation_p.P755S|ZFX_ENST00000540034.1_Missense_Mutation_p.P844S|ZFX_ENST00000304543.5_Missense_Mutation_p.P805S	p.P805S	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			11	2840	+			805					B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.2413C>T	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481449	0.44147	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T;T	0.12569	2.83;2.71;2.71;2.71;2.67;2.96	5.41	4.55	0.56014	.	0.182130	0.39146	N	0.001458	T	0.18841	0.0452	N	0.16130	0.375	0.28912	N	0.892623	D;D;D	0.89917	0.998;1.0;0.997	D;D;D	0.83275	0.99;0.996;0.986	T	0.03086	-1.1074	10	0.87932	D	0	-7.1618	8.5661	0.33540	0.1513:0.77:0.0:0.0786	.	844;527;805	B9EG97;F5GYV7;P17010	.;.;ZFX_HUMAN	S	576;805;527;805;805;844;755	ENSP00000438233:P576S;ENSP00000368486:P805S;ENSP00000368475:P805S;ENSP00000304985:P805S;ENSP00000441382:P844S;ENSP00000343384:P755S	ENSP00000304985:P805S	P	+	1	0	ZFX	24139409	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.710000	0.37920	1.184000	0.42957	0.594000	0.82650	CCC		0.398	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		19	3	0	0	0	1	0	19	3					T	24229488	C	T	24229488	3	4	435	1	0	0	0	0	1	0	0	0	17658	739	26	3	2498	3	ZFX	23	24229488	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3993	24229488	131041072	9066	29991											
MAGEB10	139422	broad.mit.edu	37	chrX	27839513	27839513	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttgatagatgctctggaCattttagaagaggaggaaga	14	11	13	3	0	1	5	0	1	1	4	1	9	1	8	0	3	1	1	0	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:27839513C>T	ENST00000356790.2	+	3	335	c.90C>T	c.(88-90)gaC>gaT	p.D30D		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	30										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						ATGCTCTGGACATTTTAGAAG	0.512																																						ENST00000356790.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(88-90)gaC>gaT		melanoma antigen family B, 10							57	56	56					X																	27839513		2202	4300	6502	SO:0001819	synonymous_variant	139422							g.chrX:27839513C>T		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.90C>T	X.37:g.27839513C>T							p.D30D	NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN			3	335	+			30					Q494Y6|Q494Y7|Q9BZ78	Silent	SNP	ENST00000356790.2	37	c.90C>T	CCDS35221.1																																																																																				0.512	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		10	3	0	0	0	1	0	10	3					T	27839513	C	T	27839513	2	4	435	1	0	0	0	0	0	0	0	1	9173	477	17	3		3	MAGEB10	23	27839513	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3610025	27839513	127431047	9067	29992											
DMD	1756	broad.mit.edu	37	chrX	32662409	32662409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaacccggccctgatgggCtgtcaaatccatcatgtacc	10	8	8	15	1	2	1	2	1	0	0	3	1	3	1	5	2	2	2	5	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:32662409C>T	ENST00000357033.4	-	11	1377	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	MIR548F5_ENST00000408421.1_RNA|DMD_ENST00000288447.4_Missense_Mutation_p.A383T|DMD_ENST00000378677.2_Missense_Mutation_p.A387T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	391					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			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)				CCCTGATGGGCTGTCAAATCC	0.383																																						ENST00000357033.4																			0				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						c.(1171-1173)Gcc>Acc		dystrophin							97	86	90					X																	32662409		2202	4300	6502	SO:0001583	missense	1756				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	g.chrX:32662409C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1171G>A	X.37:g.32662409C>T	ENSP00000354923:p.Ala391Thr					DMD_ENST00000378677.2_Missense_Mutation_p.A387T|DMD_ENST00000288447.4_Missense_Mutation_p.A383T	p.A391T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			11	1377	-		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)	391					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.1171G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544178	0.27563	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.55588	0.51;0.51;0.51	5.77	2.27	0.28462	.	0.533190	0.13727	U	0.366970	T	0.41834	0.1176	N	0.25647	0.755	0.80722	D	1	B;B;B;B	0.12013	0.001;0.004;0.003;0.005	B;B;B;B	0.19666	0.002;0.007;0.026;0.013	T	0.20240	-1.0281	10	0.46703	T	0.11	.	14.1389	0.65306	0.4037:0.5963:0.0:0.0	.	383;383;391;387	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	T	383;387;391;391;268;383	ENSP00000367948:A387T;ENSP00000354923:A391T;ENSP00000288447:A383T	ENSP00000288447:A383T	A	-	1	0	DMD	32572330	0.805000	0.28982	0.992000	0.48379	0.749000	0.42624	0.225000	0.17757	0.326000	0.23384	0.594000	0.82650	GCC		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		4	55	0	0	0	1	0	4	55					T	32662409	C	T	32662409	3	4	435	1	0	0	0	0	1	0	0	0	4580	797	28	3	10405	3	DMD	23	32662409	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4822896	32662409	122608151	9068	29993											
FAM47B	170062	broad.mit.edu	37	chrX	34961471	34961471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccgggagaagacaaccgagGtacccaccgagtctggtaaa	13	4	12	12	3	1	2	0	0	1	2	1	5	1	2	4	3	2	2	4	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:34961471G>T	ENST00000329357.5	+	1	559	c.523G>T	c.(523-525)Gta>Tta	p.V175L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	175										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GACAACCGAGGTACCCACCGA	0.617																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(523-525)Gta>Tta		family with sequence similarity 47, member B							33	33	33					X																	34961471		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961471G>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.523G>T	X.37:g.34961471G>T	ENSP00000328307:p.Val175Leu						p.V175L	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	559	+			175					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.523G>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	4.322	0.059174	0.08339	.	.	ENSG00000189132	ENST00000329357	T	0.14766	2.48	0.843	-0.533	0.11887	.	.	.	.	.	T	0.10594	0.0259	L	0.44542	1.39	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.33803	-0.9854	9	0.32370	T	0.25	.	6.2664	0.20930	0.0:0.31:0.6899:0.0	.	175	Q8NA70	FA47B_HUMAN	L	175	ENSP00000328307:V175L	ENSP00000328307:V175L	V	+	1	0	FAM47B	34871392	0.274000	0.24191	0.002000	0.10522	0.022000	0.10575	1.545000	0.36169	-0.219000	0.10003	0.292000	0.19580	GTA		0.617	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		9	6	1	0	2.17888e-05	1	2.24846e-05	9	6					T	34961471	G	T	34961471	3	4	435	1	0	0	0	0	1	0	0	0	5570	1261	44	5	525	5	FAM47B	23	34961471	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2299062	34961471	120309089	9069	29994											
CXorf22	170063	broad.mit.edu	37	chrX	35984805	35984805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtaaaatctttccatcacGtatatttagctttcaacagc	12	14	5	10	2	3	0	2	0	1	0	4	0	4	0	1	1	3	3	1	1	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:35984805G>A	ENST00000297866.5	+	9	1600	c.1534G>A	c.(1534-1536)Gta>Ata	p.V512I		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	512										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTTCCATCACGTATATTTAGC	0.383																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(1534-1536)Gta>Ata		chromosome X open reading frame 22							142	129	134					X																	35984805		2202	4299	6501	SO:0001583	missense	170063							g.chrX:35984805G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1534G>A	X.37:g.35984805G>A	ENSP00000297866:p.Val512Ile						p.V512I	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			9	1600	+			512					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1534G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.432398	0.00184	.	.	ENSG00000165164	ENST00000297866	T	0.12039	2.72	5.7	-2.86	0.05717	.	0.382393	0.30547	N	0.009386	T	0.03305	0.0096	N	0.01800	-0.715	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.38972	-0.9636	10	0.12103	T	0.63	-8.1178	6.6379	0.22893	0.489:0.1283:0.3827:0.0	.	512	Q6ZTR5	CX022_HUMAN	I	512	ENSP00000297866:V512I	ENSP00000297866:V512I	V	+	1	0	CXorf22	35894726	0.303000	0.24463	0.000000	0.03702	0.000000	0.00434	0.836000	0.27545	-0.990000	0.03481	-2.116000	0.00351	GTA		0.383	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		34	6	0	0	0	1	0	34	6					A	35984805	G	A	35984805	3	1	435	1	0	0	0	0	1	0	0	0	4102	1145	40	1	1568	1	CXorf22	23	35984805	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1023334	35984805	119285755	9070	29995											
FAM47C	442444	broad.mit.edu	37	chrX	37027835	37027835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggagtgtcccatctccGcccagagcctcccaagactc	8	7	9	17	1	1	2	0	0	1	2	5	4	3	3	5	1	1	0	5	1	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:37027835G>A	ENST00000358047.3	+	1	1404	c.1352G>A	c.(1351-1353)cGc>cAc	p.R451H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	451								p.R451P(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCATCTCCGCCCAGAGCCT	0.617																																						ENST00000358047.3																			2	Substitution - Missense(2)	p.R451P(2)	lung(2)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1351-1353)cGc>cAc		family with sequence similarity 47, member C							64	62	63					X																	37027835		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027835G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1352G>A	X.37:g.37027835G>A	ENSP00000367913:p.Arg451His						p.R451H	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1404	+			451					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1352G>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	g	12.75	2.032147	0.35893	.	.	ENSG00000198173	ENST00000358047	T	0.21191	2.02	1.46	-2.93	0.05598	.	.	.	.	.	T	0.07143	0.0181	N	0.05124	-0.11	0.09310	N	1	B	0.31125	0.309	B	0.19946	0.027	T	0.27773	-1.0064	9	0.40728	T	0.16	.	4.2486	0.10684	0.2229:0.53:0.2471:0.0	.	451	Q5HY64	FA47C_HUMAN	H	451	ENSP00000367913:R451H	ENSP00000367913:R451H	R	+	2	0	FAM47C	36937756	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.427000	0.02441	-0.353000	0.08224	-0.527000	0.04329	CGC		0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		58	9	0	0	0	1	0	58	9					A	37027835	G	A	37027835	3	1	435	1	0	0	0	0	1	0	0	0	5571	1087	38	1	1354	1	FAM47C	23	37027835	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1043030	37027835	118242725	9071	29996											
FAM47C	442444	broad.mit.edu	37	chrX	37027856	37027856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagagcctcccaagactcGggtgtccagtctccacctgg	7	7	10	17	1	1	2	0	0	1	2	5	2	3	2	6	2	1	0	6	2	1	0	rs200849623		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:37027856G>A	ENST00000358047.3	+	1	1425	c.1373G>A	c.(1372-1374)cGg>cAg	p.R458Q		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	458										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAAGACTCGGGTGTCCAGT	0.632																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1372-1374)cGg>cAg		family with sequence similarity 47, member C							61	60	60					X																	37027856		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027856G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1373G>A	X.37:g.37027856G>A	ENSP00000367913:p.Arg458Gln						p.R458Q	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1425	+			458					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1373G>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	g	6.815	0.519429	0.13005	.	.	ENSG00000198173	ENST00000358047	T	0.14266	2.52	1.46	-2.93	0.05598	.	.	.	.	.	T	0.04679	0.0127	L	0.28115	0.83	0.09310	N	1	P	0.36222	0.544	B	0.22880	0.042	T	0.37842	-0.9688	9	0.12766	T	0.61	.	0.2586	0.00215	0.3949:0.2095:0.1858:0.2097	.	458	Q5HY64	FA47C_HUMAN	Q	458	ENSP00000367913:R458Q	ENSP00000367913:R458Q	R	+	2	0	FAM47C	36937777	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.808000	0.04515	-1.247000	0.02507	-1.239000	0.01543	CGG		0.632	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		47	7	0	0	0	1	0	47	7					A	37027856	G	A	37027856	3	1	435	1	0	0	0	0	1	0	0	0	5571	1116	39	2	1375	2	FAM47C	23	37027856	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	21	37027856	118242704	9072	29997											
FAM47C	442444	broad.mit.edu	37	chrX	37028326	37028326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggagcctccagagactcgcGtatctcatctccgcccagag	8	7	10	16	4	2	2	1	0	2	2	6	4	3	3	4	1	1	1	4	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:37028326G>A	ENST00000358047.3	+	1	1895	c.1843G>A	c.(1843-1845)Gta>Ata	p.V615I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	615										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGAGACTCGCGTATCTCATCT	0.652																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1843-1845)Gta>Ata		family with sequence similarity 47, member C							26	29	28					X																	37028326		2197	4291	6488	SO:0001583	missense	442444							g.chrX:37028326G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1843G>A	X.37:g.37028326G>A	ENSP00000367913:p.Val615Ile						p.V615I	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1895	+			615					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1843G>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	12.06	1.823209	0.32237	.	.	ENSG00000198173	ENST00000358047	T	0.18502	2.21	1.64	-2.13	0.07144	.	.	.	.	.	T	0.19886	0.0478	M	0.77820	2.39	0.09310	N	1	D	0.59767	0.986	P	0.48400	0.576	T	0.15122	-1.0448	9	0.36615	T	0.2	.	0.3159	0.00295	0.207:0.2511:0.2892:0.2528	.	615	Q5HY64	FA47C_HUMAN	I	615	ENSP00000367913:V615I	ENSP00000367913:V615I	V	+	1	0	FAM47C	36938247	0.153000	0.22777	0.000000	0.03702	0.001000	0.01503	1.418000	0.34782	-0.137000	0.11455	0.366000	0.22137	GTA		0.652	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		58	6	0	0	0	1	0	58	6					A	37028326	G	A	37028326	3	1	435	1	0	0	0	0	1	0	0	0	5571	1145	40	1	1845	1	FAM47C	23	37028326	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	470	37028326	118242234	9073	29998											
RPGR	6103	broad.mit.edu	37	chrX	38147244	38147244	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatattcatcactatcatcGttttcagtaagagctgtatc	11	16	5	9	1	5	1	5	0	0	1	7	1	5	1	0	0	1	4	0	0	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:38147244G>A	ENST00000339363.3	-	14	1790	c.1623C>T	c.(1621-1623)aaC>aaT	p.N541N	RPGR_ENST00000342811.3_Silent_p.N541N|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000318842.7_Silent_p.N541N|RPGR_ENST00000309513.3_Silent_p.N479N|RPGR_ENST00000378505.2_Silent_p.N541N|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	541	Glu-rich.				cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			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						CACTATCATCGTTTTCAGTAA	0.358																																						ENST00000378505.2																			0				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						c.(1621-1623)aaC>aaT		retinitis pigmentosa GTPase regulator							226	180	196					X																	38147244		2202	4300	6502	SO:0001819	synonymous_variant	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38147244G>A	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1623C>T	X.37:g.38147244G>A						RPGR_ENST00000309513.3_Silent_p.N479N|RPGR_ENST00000342811.3_Silent_p.N541N|RPGR_ENST00000339363.3_Silent_p.N541N|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000318842.7_Silent_p.N541N	p.N541N	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN			14	1799	-			541			Glu-rich.		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Silent	SNP	ENST00000339363.3	37	c.1623C>T																																																																																					0.358	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		40	11	0	0	0	1	0	40	11					A	38147244	G	A	38147244	2	1	435	1	0	0	0	0	0	0	0	1	13548	1136	40	1		1	RPGR	23	38147244	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1118918	38147244	117123316	9074	29999											
RPGR	6103	broad.mit.edu	37	chrX	38178228	38178228	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttccaccagttgcatatAcattgcctccttctgcacat	9	15	4	13	0	1	0	0	0	1	0	3	0	3	0	4	0	4	3	4	0	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:38178228A>G	ENST00000339363.3	-	5	490	c.323T>C	c.(322-324)gTa>gCa	p.V108A	RPGR_ENST00000342811.3_Missense_Mutation_p.V108A|RPGR_ENST00000338898.3_Missense_Mutation_p.V108A|RPGR_ENST00000318842.7_Missense_Mutation_p.V108A|RPGR_ENST00000309513.3_Missense_Mutation_p.V108A|RPGR_ENST00000378505.2_Missense_Mutation_p.V108A|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	108					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			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						AGTTGCATATACATTGCCTCC	0.398																																						ENST00000378505.2																			0				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						c.(322-324)gTa>gCa		retinitis pigmentosa GTPase regulator							116	102	107					X																	38178228		2202	4300	6502	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38178228A>G	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.323T>C	X.37:g.38178228A>G	ENSP00000343671:p.Val108Ala					RPGR_ENST00000309513.3_Missense_Mutation_p.V108A|RPGR_ENST00000342811.3_Missense_Mutation_p.V108A|RPGR_ENST00000339363.3_Missense_Mutation_p.V108A|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Missense_Mutation_p.V108A|RPGR_ENST00000318842.7_Missense_Mutation_p.V108A	p.V108A	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN			5	499	-			108					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.323T>C		.	.	.	.	.	.	.	.	.	.	A	14.26	2.480870	0.44044	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	5.08	5.08	0.68730	.	0.158659	0.41712	U	0.000826	D	0.93546	0.7940	M	0.84948	2.725	0.37372	D	0.911652	P;P	0.48503	0.768;0.911	P;P	0.50617	0.517;0.646	D	0.95729	0.8773	10	0.87932	D	0	.	13.9574	0.64157	1.0:0.0:0.0:0.0	.	108;108	E9PE28;Q92834-2	.;.	A	108	ENSP00000343671:V108A;ENSP00000308783:V108A;ENSP00000340208:V108A;ENSP00000322219:V108A;ENSP00000339531:V108A;ENSP00000367766:V108A	ENSP00000308783:V108A	V	-	2	0	RPGR	38063172	0.999000	0.42202	0.026000	0.17262	0.078000	0.17371	8.931000	0.92884	1.671000	0.50874	0.481000	0.45027	GTA		0.398	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		33	8	0	0	0	1	0	33	8					G	38178228	A	G	38178228	3	3	435	1	0	0	0	0	1	0	0	0	13548	391	14	4	3738	4	RPGR	23	38178228	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	30984	38178228	117092332	9075	30000											
RPGR	6103	broad.mit.edu	37	chrX	38182682	38182682	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaatgttcatctccacAtgaaagatgtacagggacat	15	9	9	8	0	2	3	1	1	1	2	3	4	2	4	1	1	2	3	1	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:38182682A>G	ENST00000339363.3	-	2	291	c.124T>C	c.(124-126)Tgt>Cgt	p.C42R	RPGR_ENST00000342811.3_Missense_Mutation_p.C42R|RPGR_ENST00000338898.3_Missense_Mutation_p.C42R|RPGR_ENST00000318842.7_Missense_Mutation_p.C42R|RPGR_ENST00000309513.3_Missense_Mutation_p.C42R|RPGR_ENST00000378505.2_Missense_Mutation_p.C42R|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	42					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			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						TCATCTCCACATGAAAGATGT	0.333																																						ENST00000378505.2																			0				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						c.(124-126)Tgt>Cgt		retinitis pigmentosa GTPase regulator							51	45	47					X																	38182682		2202	4298	6500	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38182682A>G	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.124T>C	X.37:g.38182682A>G	ENSP00000343671:p.Cys42Arg					RPGR_ENST00000309513.3_Missense_Mutation_p.C42R|RPGR_ENST00000342811.3_Missense_Mutation_p.C42R|RPGR_ENST00000339363.3_Missense_Mutation_p.C42R|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Missense_Mutation_p.C42R|RPGR_ENST00000318842.7_Missense_Mutation_p.C42R	p.C42R	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN			2	300	-			42					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.124T>C		.	.	.	.	.	.	.	.	.	.	A	18.78	3.696043	0.68386	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.6	5.6	0.85130	.	0.000000	0.85682	U	0.000000	D	0.91250	0.7242	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92946	0.6376	10	0.87932	D	0	.	14.454	0.67404	1.0:0.0:0.0:0.0	.	42;42	E9PE28;Q92834-2	.;.	R	42	ENSP00000343671:C42R;ENSP00000308783:C42R;ENSP00000340208:C42R;ENSP00000322219:C42R;ENSP00000339531:C42R;ENSP00000367766:C42R	ENSP00000308783:C42R	C	-	1	0	RPGR	38067626	1.000000	0.71417	0.998000	0.56505	0.716000	0.41182	5.697000	0.68295	1.873000	0.54277	0.417000	0.27973	TGT		0.333	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		3	24	0	0	0	1	0	3	24					G	38182682	A	G	38182682	3	3	435	1	0	0	0	0	1	0	0	0	13548	217	8	4	3949	4	RPGR	23	38182682	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	4454	38182682	117087878	9076	30001											
BCOR	54880	broad.mit.edu	37	chrX	39930266	39930266	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgcaatggcctcctccagGgtgaccgactttggcttttt	5	14	10	12	1	1	1	0	1	1	0	3	2	3	1	4	3	1	2	4	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:39930266G>T	ENST00000378444.4	-	6	3426	c.3198C>A	c.(3196-3198)acC>acA	p.T1066T	BCOR_ENST00000342274.4_Silent_p.T1066T|BCOR_ENST00000378463.1_5'Flank|BCOR_ENST00000397354.3_Silent_p.T1066T|BCOR_ENST00000378455.4_Silent_p.T1048T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1066					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			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						CCTCCTCCAGGGTGACCGACT	0.517			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				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						c.(3196-3198)acC>acA		BCL6 corepressor							208	158	175					X																	39930266		2202	4300	6502	SO:0001819	synonymous_variant	54880				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	g.chrX:39930266G>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3198C>A	X.37:g.39930266G>T						BCOR_ENST00000378444.4_Silent_p.T1066T|BCOR_ENST00000378455.4_Silent_p.T1048T|BCOR_ENST00000397354.3_Silent_p.T1066T	p.T1066T	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			6	3560	-			1066					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.3198C>A	CCDS48093.1																																																																																				0.517	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		21	8	1	0	2.48779e-11	1	2.67617e-11	21	8					T	39930266	G	T	39930266	2	4	435	1	0	0	0	0	0	0	0	1	1386	1219	43	5		5	BCOR	23	39930266	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1747584	39930266	115340294	9077	30002											
MED14	9282	broad.mit.edu	37	chrX	40556412	40556412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgttttatagactgcttgCaacgctgttgtccaagccaa	10	13	9	9	1	0	1	0	0	0	1	1	2	1	1	2	0	4	5	2	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:40556412C>T	ENST00000324817.1	-	13	1632	c.1514G>A	c.(1513-1515)tGc>tAc	p.C505Y		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	505	Interaction with SREBF1.|Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGACTGCTTGCAACGCTGTTG	0.363																																						ENST00000324817.1																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1513-1515)tGc>tAc		mediator complex subunit 14							88	75	80					X																	40556412		2203	4300	6503	SO:0001583	missense	9282				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	g.chrX:40556412C>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1514G>A	X.37:g.40556412C>T	ENSP00000323720:p.Cys505Tyr						p.C505Y	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN			13	1632	-			505			Interaction with SREBF1.|Interaction with STAT2.		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.1514G>A	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965771	0.74131	.	.	ENSG00000180182	ENST00000324817	T	0.41065	1.01	5.68	5.68	0.88126	.	0.084026	0.85682	D	0.000000	T	0.44603	0.1301	L	0.59436	1.845	0.80722	D	1	B	0.18741	0.03	B	0.11329	0.006	T	0.31475	-0.9942	10	0.51188	T	0.08	.	18.742	0.91777	0.0:1.0:0.0:0.0	.	505	O60244	MED14_HUMAN	Y	505	ENSP00000323720:C505Y	ENSP00000323720:C505Y	C	-	2	0	MED14	40441356	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.733000	0.68571	2.371000	0.80710	0.538000	0.68166	TGC		0.363	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		24	5	0	0	0	1	0	24	5					T	40556412	C	T	40556412	3	4	435	1	0	0	0	0	1	0	0	0	9432	710	25	3	2926	3	MED14	23	40556412	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	626146	40556412	114714148	9078	30003											
USP9X	8239	broad.mit.edu	37	chrX	41029390	41029390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatcgtattaaagccaacGtagcccatacaaaaattgag	17	9	6	9	2	1	1	1	1	0	0	2	1	1	1	2	0	4	2	2	0	9	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:41029390G>A	ENST00000324545.8	+	19	3412	c.2779G>A	c.(2779-2781)Gta>Ata	p.V927I	USP9X_ENST00000378308.2_Missense_Mutation_p.V927I	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	927					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAAAGCCAACGTAGCCCATAC	0.398																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(2779-2781)Gta>Ata		ubiquitin specific peptidase 9, X-linked							105	96	99					X																	41029390		2162	4274	6436	SO:0001583	missense	8239				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	g.chrX:41029390G>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2779G>A	X.37:g.41029390G>A	ENSP00000316357:p.Val927Ile					USP9X_ENST00000378308.2_Missense_Mutation_p.V927I	p.V927I	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			19	3412	+			927					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.2779G>A	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395883	0.42512	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03272	3.99;4.0	5.85	3.85	0.44370	.	0.260957	0.42053	D	0.000774	T	0.03136	0.0092	L	0.52573	1.65	0.27383	N	0.955371	B;B	0.30193	0.151;0.272	B;B	0.20767	0.031;0.014	T	0.38735	-0.9647	10	0.17369	T	0.5	.	4.2715	0.10789	0.5265:0.0:0.4735:0.0	.	927;927	Q93008-1;Q93008	.;USP9X_HUMAN	I	927	ENSP00000367558:V927I;ENSP00000316357:V927I	ENSP00000316357:V927I	V	+	1	0	USP9X	40914334	1.000000	0.71417	0.998000	0.56505	0.890000	0.51754	6.303000	0.72794	1.212000	0.43366	-0.215000	0.12644	GTA		0.398	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		35	4	0	0	0	1	0	35	4					A	41029390	G	A	41029390	3	1	435	1	0	0	0	0	1	0	0	0	17087	1145	40	1	2849	1	USP9X	23	41029390	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	472978	41029390	114241170	9079	30004											
DDX3X	1654	broad.mit.edu	37	chrX	41205566	41205566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttataccatgaaggatacgCatgtaccagcatccatggag	13	9	9	10	1	0	1	0	1	0	0	1	3	1	3	3	2	4	3	3	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:41205566C>T	ENST00000399959.2	+	13	2255	c.1400C>T	c.(1399-1401)gCa>gTa	p.A467V	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.A451V|DDX3X_ENST00000441189.2_Intron|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	467	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			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						GAAGGATACGCATGTACCAGC	0.463										HNSCC(61;0.18)																												ENST00000399959.2																			0				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						c.(1399-1401)gCa>gTa		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked							128	121	124					X																	41205566		2199	4300	6499	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41205566C>T	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1400C>T	X.37:g.41205566C>T	ENSP00000382840:p.Ala467Val	HNSCC(61;0.18)				DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.A451V	p.A467V	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN			13	2255	+			467			Helicase C-terminal.|Necessary for interaction with XPO1.		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.1400C>T	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366537	0.82463	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.75367	-0.93;-0.93	5.41	5.41	0.78517	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.60932	0.2307	L	0.31371	0.925	0.80722	D	1	B;P;P	0.50156	0.26;0.769;0.932	B;B;B	0.31290	0.044;0.127;0.127	T	0.69935	-0.5010	10	0.72032	D	0.01	-13.4016	18.3066	0.90184	0.0:1.0:0.0:0.0	.	451;479;467	B4E3E8;Q59GX6;O00571	.;.;DDX3X_HUMAN	V	467;451	ENSP00000382840:A467V;ENSP00000392494:A451V	ENSP00000382840:A467V	A	+	2	0	DDX3X	41090510	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.771000	0.85420	2.262000	0.75019	0.600000	0.82982	GCA		0.463	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		9	17	0	0	0	1	0	9	17					T	41205566	C	T	41205566	3	4	435	1	0	0	0	0	1	0	0	0	4358	710	25	3	1450	3	DDX3X	23	41205566	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	176176	41205566	114064994	9080	30005											
DUSP21	63904	broad.mit.edu	37	chrX	44703559	44703559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcggtggaagtggtcaacGtattcttcgagggcattcag	8	11	13	9	3	3	0	2	0	1	0	5	2	3	1	1	4	1	2	1	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:44703559G>A	ENST00000339042.4	+	1	311	c.181G>A	c.(181-183)Gta>Ata	p.V61I		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	61	Sufficient for mitochondrial localization. {ECO:0000250}.|Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						AGTGGTCAACGTATTCTTCGA	0.502																																						ENST00000339042.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						c.(181-183)Gta>Ata		dual specificity phosphatase 21							202	157	172					X																	44703559		2203	4300	6503	SO:0001583	missense	63904					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:44703559G>A	AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.181G>A	X.37:g.44703559G>A	ENSP00000343244:p.Val61Ile						p.V61I	NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN			1	311	+			61			Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.		Q0VDA6|Q6IAJ6|Q6YDQ8	Missense_Mutation	SNP	ENST00000339042.4	37	c.181G>A	CCDS14264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.87|11.87	1.767417|1.767417	0.31320|0.31320	.|.	.|.	ENSG00000189037|ENSG00000189037	ENST00000537377|ENST00000339042	.|D	.|0.85484	.|-1.99	3.82|3.82	2.55|2.55	0.30701|0.30701	.|Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.|2.244590	.|0.01236	.|N	.|0.008497	T|T	0.74419|0.74419	0.3714|0.3714	L|L	0.28115|0.28115	0.83|0.83	0.20307|0.20307	N|N	0.999914|0.999914	.|P	.|0.45212	.|0.853	.|B	.|0.38106	.|0.265	T|T	0.65307|0.65307	-0.6200|-0.6200	5|10	.|0.22706	.|T	.|0.39	.|.	2.7145|2.7145	0.05183|0.05183	0.6477:0.0:0.1264:0.2259|0.6477:0.0:0.1264:0.2259	.|.	.|61	.|Q9H596	.|DUS21_HUMAN	H|I	60|61	.|ENSP00000343244:V61I	.|ENSP00000343244:V61I	R|V	+|+	2|1	0|0	DUSP21|DUSP21	44588503|44588503	0.395000|0.395000	0.25254|0.25254	0.002000|0.002000	0.10522|0.10522	0.000000|0.000000	0.00434|0.00434	1.198000|1.198000	0.32223|0.32223	0.633000|0.633000	0.30452|0.30452	-0.361000|-0.361000	0.07541|0.07541	CGT|GTA		0.502	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076		41	4	0	0	0	1	0	41	4					A	44703559	G	A	44703559	3	1	435	1	0	0	0	0	1	0	0	0	4820	1145	40	1	183	1	DUSP21	23	44703559	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3497993	44703559	110567001	9081	30006											
KDM6A	7403	broad.mit.edu	37	chrX	44929288	44929288	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaatgtgggtactggaacCtgtgacaaagtcaataacat	16	9	9	7	0	1	1	1	1	0	0	1	2	1	2	1	2	4	1	1	2	7	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:44929288C>T	ENST00000377967.4	+	17	2429	c.2388C>T	c.(2386-2388)acC>acT	p.T796T	KDM6A_ENST00000382899.4_Silent_p.T803T|KDM6A_ENST00000536777.1_Silent_p.T751T|KDM6A_ENST00000543216.1_Silent_p.T717T	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	796	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTACTGGAACCTGTGACAAAG	0.443			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(2386-2388)acC>acT		lysine (K)-specific demethylase 6A							173	121	139					X																	44929288		2203	4300	6503	SO:0001819	synonymous_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44929288C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2388C>T	X.37:g.44929288C>T						KDM6A_ENST00000543216.1_Silent_p.T717T|KDM6A_ENST00000536777.1_Silent_p.T751T|KDM6A_ENST00000382899.4_Silent_p.T803T	p.T796T	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			17	2429	+			796					Q52LL9|Q5JVQ7	Silent	SNP	ENST00000377967.4	37	c.2388C>T	CCDS14265.1																																																																																				0.443	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		13	1	0	0	0	1	0	13	1					T	44929288	C	T	44929288	2	4	435	1	0	0	0	0	0	0	0	1	8137	668	24	3		3	KDM6A	23	44929288	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	225729	44929288	110341272	9082	30007											
KDM6A	7403	broad.mit.edu	37	chrX	44937657	44937657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttacagttggaaaataaaCgtgatgctttctttcctcca	11	16	6	8	1	1	1	0	1	1	0	3	2	3	2	2	1	3	2	2	1	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:44937657C>T	ENST00000377967.4	+	19	2886	c.2845C>T	c.(2845-2847)Cgt>Tgt	p.R949C	KDM6A_ENST00000382899.4_Missense_Mutation_p.R956C|KDM6A_ENST00000536777.1_Missense_Mutation_p.R904C|KDM6A_ENST00000543216.1_Missense_Mutation_p.R870C	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	949	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GGAAAATAAACGTGATGCTTT	0.323			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(2845-2847)Cgt>Tgt		lysine (K)-specific demethylase 6A							95	83	87					X																	44937657		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44937657C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2845C>T	X.37:g.44937657C>T	ENSP00000367203:p.Arg949Cys					KDM6A_ENST00000543216.1_Missense_Mutation_p.R870C|KDM6A_ENST00000536777.1_Missense_Mutation_p.R904C|KDM6A_ENST00000382899.4_Missense_Mutation_p.R956C	p.R949C	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			19	2886	+			949					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.2845C>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.30|18.30	3.592789|3.592789	0.66219|0.66219	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	T;T;T;T|.	0.79940|.	-1.32;-1.32;-1.32;-1.32|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74680|0.74680	0.3748|0.3748	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D;D|.	0.91635|.	0.99;0.992;0.992;0.982;0.97;0.999|.	T|T	0.76138|0.76138	-0.3069|-0.3069	10|5	0.87932|.	D|.	0|.	-13.367|-13.367	13.2666|13.2666	0.60137|0.60137	0.1584:0.8416:0.0:0.0|0.1584:0.8416:0.0:0.0	.|.	588;956;904;1001;915;949|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550|.	.;.;.;.;.;KDM6A_HUMAN|.	C|M	646;949;904;956;870|546;591	ENSP00000367203:R949C;ENSP00000437405:R904C;ENSP00000372355:R956C;ENSP00000443078:R870C|.	ENSP00000334340:R646C|.	R|T	+|+	1|2	0|0	KDM6A|KDM6A	44822601|44822601	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.652000|3.652000	0.54439|0.54439	2.254000|2.254000	0.74563|0.74563	0.544000|0.544000	0.68410|0.68410	CGT|ACG		0.323	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		6	32	0	0	0	1	0	6	32					T	44937657	C	T	44937657	3	4	435	1	0	0	0	0	1	0	0	0	8137	536	19	1	2919	1	KDM6A	23	44937657	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8369	44937657	110332903	9083	30008											
RBM10	8241	broad.mit.edu	37	chrX	47030586	47030588	+	In_Frame_Del	DEL	GAG	GAG	-																															aggaggaggaggaggaggatGaggaggaggaggagaaggcc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:47030586_47030588delGAG	ENST00000377604.3	+	4	1103_1105	c.361_363delGAG	c.(361-363)gagdel	p.E125del	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	125	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ggaggaggatgaggaggaggagg	0.665																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(361-363)del		RNA binding motif protein 10																																				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030586_47030588delGAG	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.361_363delGAG	X.37:g.47030595_47030597delGAG	ENSP00000366829:p.Glu125del					RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron	p.E125del	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1103_1105	+			125			Poly-Glu.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.361_363delGAG	CCDS14274.1																																																																																				0.665	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		2	4						2	4	---	---	---	---	-	47030588	GAG	-	47030586	7	5	435	1	0	1	0	1	0	0	0	0	13111	1291	45	0	371	0	RBM10	23	47030586	In_Frame_Del	DEL	GAG	TCGA-XK-AAIW-01A-11D-A41K-08	2092929	47030586	108239974	9084	30009											
RBM10	8241	broad.mit.edu	37	chrX	47030610	47030610	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaggaggagaaggccagtAacatcgtcatgctgaggatg	13	6	16	6	1	1	2	1	1	0	1	2	6	1	5	1	5	2	2	1	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:47030610A>G	ENST00000377604.3	+	4	1127	c.385A>G	c.(385-387)Aac>Gac	p.N129D	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	129	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						gaaggCCAGTAACATCGTCAT	0.652																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(385-387)Aac>Gac		RNA binding motif protein 10							21	20	20					X																	47030610		2202	4297	6499	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030610A>G	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.385A>G	X.37:g.47030610A>G	ENSP00000366829:p.Asn129Asp					RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR	p.N129D	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1127	+			129			RRM 1.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.385A>G	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.191890	0.38707	.	.	ENSG00000182872	ENST00000377604	T	0.44881	0.91	3.95	2.67	0.31697	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.216568	0.35525	N	0.003149	T	0.27832	0.0685	L	0.43554	1.36	0.80722	D	1	P;P;B;B	0.44429	0.615;0.835;0.304;0.18	B;B;B;B	0.39258	0.155;0.295;0.079;0.083	T	0.04041	-1.0982	10	0.15066	T	0.55	-21.132	6.9811	0.24704	0.7722:0.2278:0.0:0.0	.	194;129;129;1	Q7Z3D7;P98175-2;P98175;Q6PKH5	.;.;RBM10_HUMAN;.	D	129	ENSP00000366829:N129D	ENSP00000366829:N129D	N	+	1	0	RBM10	46915554	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.536000	0.67180	1.390000	0.46547	0.409000	0.27619	AAC		0.652	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		7	1	0	0	0	1	0	7	1					G	47030610	A	G	47030610	3	3	435	1	0	0	0	0	1	0	0	0	13111	362	13	4	395	4	RBM10	23	47030610	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	24	47030610	108239950	9085	30010											
UBA1	7317	broad.mit.edu	37	chrX	47061766	47061766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccgccacagaaatccttgGtggcctcactggcagaacct	9	7	9	16	1	1	2	1	0	0	2	2	2	2	2	6	3	1	1	6	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:47061766G>A	ENST00000335972.6	+	10	1102	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	INE1_ENST00000456273.1_RNA|UBA1_ENST00000377351.4_Missense_Mutation_p.V307M	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	307	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			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						GAAATCCTTGGTGGCCTCACT	0.577																																						ENST00000335972.6																			0				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						c.(919-921)Gtg>Atg		ubiquitin-like modifier activating enzyme 1							68	55	59					X																	47061766		2203	4300	6503	SO:0001583	missense	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47061766G>A	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.919G>A	X.37:g.47061766G>A	ENSP00000338413:p.Val307Met					UBA1_ENST00000377351.4_Missense_Mutation_p.V307M	p.V307M	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			10	1102	+			307			2 approximate repeats.		Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	c.919G>A	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	G	9.161	1.018681	0.19355	.	.	ENSG00000130985	ENST00000377351;ENST00000335972	T;T	0.29397	1.57;1.57	4.83	-1.46	0.08800	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.676266	0.15368	N	0.265997	T	0.19208	0.0461	L	0.29908	0.895	0.25451	N	0.988002	B	0.17667	0.023	B	0.12156	0.007	T	0.13176	-1.0519	10	0.59425	D	0.04	0.8381	7.8971	0.29712	0.0:0.5486:0.236:0.2154	.	307	P22314	UBA1_HUMAN	M	307	ENSP00000366568:V307M;ENSP00000338413:V307M	ENSP00000338413:V307M	V	+	1	0	UBA1	46946710	0.000000	0.05858	0.024000	0.17045	0.919000	0.55068	-1.004000	0.03678	-0.641000	0.05487	-0.410000	0.06199	GTG		0.577	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		8	5	0	0	0	1	0	8	5					A	47061766	G	A	47061766	3	1	435	1	0	0	0	0	1	0	0	0	16824	1261	44	3	953	3	UBA1	23	47061766	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31156	47061766	108208794	9086	30011											
ZNF41	7592	broad.mit.edu	37	chrX	47307942	47307942	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattcattgcattcatagtgTttctctccggtatgagtttt	7	19	7	8	1	3	1	2	1	1	0	5	1	4	1	1	1	1	4	1	1	2	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:47307942T>C	ENST00000377065.4	-	5	1866	c.1227A>G	c.(1225-1227)aaA>aaG	p.K409K	ZNF41_ENST00000397050.2_Silent_p.K419K|ZNF41_ENST00000313116.7_Silent_p.K409K|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATTCATAGTGTTTCTCTCCGG	0.428																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(1225-1227)aaA>aaG		zinc finger protein 41							104	94	97					X																	47307942		2203	4300	6503	SO:0001819	synonymous_variant	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47307942T>C	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1227A>G	X.37:g.47307942T>C						ZNF41_ENST00000313116.7_Silent_p.K409K|ZNF41_ENST00000397050.2_Silent_p.K419K	p.K409K	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			5	1866	-		all_lung(315;0.000129)	451					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Silent	SNP	ENST00000377065.4	37	c.1227A>G	CCDS14279.1																																																																																				0.428	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		71	7	0	0	0	1	0	71	7					C	47307942	T	C	47307942	2	2	435	1	0	0	0	0	0	0	0	1	17886	1722	60	4		4	ZNF41	23	47307942	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	246176	47307942	107962618	9087	30012											
ZNF81	347344	broad.mit.edu	37	chrX	47774323	47774323	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttctttctctttttagAtgggaaatttggaattaagc	9	20	7	5	0	2	1	0	0	2	1	3	3	2	3	0	2	1	0	0	2	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:47774323A>G	ENST00000376954.1	+	6	646	c.278A>G	c.(277-279)gAt>gGt	p.D93G	ZNF81_ENST00000338637.7_Splice_Site_p.D93G			P51508	ZNF81_HUMAN	zinc finger protein 81	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				CTCTTTTTAGATGGGAAATTT	0.338																																						ENST00000376954.1																			0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.e6-1		zinc finger protein 81							20	16	17					X																	47774323		1794	4038	5832	SO:0001630	splice_region_variant	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47774323A>G	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.278-1A>G	X.37:g.47774323A>G						ZNF81_ENST00000338637.7_Splice_Site_p.D93_splice	p.D93_splice			P51508	ZNF81_HUMAN			6	646	+		all_lung(315;0.0973)	93					Q6RX22|Q96QH6	Splice_Site	SNP	ENST00000376954.1	37	c.277_splice	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	A	1.409	-0.575948	0.03882	.	.	ENSG00000197779	ENST00000376954;ENST00000338637;ENST00000399918	T;T	0.07908	3.15;3.15	3.85	1.35	0.21983	.	0.370356	0.20167	N	0.097825	T	0.03651	0.0104	N	0.12502	0.225	0.25786	N	0.984676	B	0.02656	0.0	B	0.04013	0.001	T	0.43376	-0.9395	9	.	.	.	.	4.6281	0.12488	0.6387:0.0:0.3613:0.0	.	93	P51508	ZNF81_HUMAN	G	93	ENSP00000366153:D93G;ENSP00000341151:D93G	.	D	+	2	0	ZNF81	47659267	0.806000	0.28996	0.556000	0.28293	0.832000	0.47134	0.819000	0.27308	0.184000	0.20083	0.486000	0.48141	GAT		0.338	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137	Missense_Mutation	23	6	0	0	0	1	0	23	6					G	47774323	A	G	47774323	5	3	435	1	0	0	0	0	0	0	1	0	18171	347	12	4	292	4	ZNF81	23	47774323	Splice_Site	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	466381	47774323	107496237	9088	30013											
ZNF182	7569	broad.mit.edu	37	chrX	47836866	47836866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctttcccacactctttatagCcatagggcttcattccagga	9	13	6	13	0	2	0	1	0	1	0	4	1	4	1	3	2	1	1	3	2	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:47836866C>T	ENST00000396965.1	-	7	970	c.620G>A	c.(619-621)gGc>gAc	p.G207D	ZNF182_ENST00000376943.3_Missense_Mutation_p.G188D|ZNF182_ENST00000305127.6_Missense_Mutation_p.G207D	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CTCTTTATAGCCATAGGGCTT	0.368																																						ENST00000396965.1																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(619-621)gGc>gAc		zinc finger protein 182							65	60	62					X																	47836866		2203	4300	6503	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836866C>T	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.620G>A	X.37:g.47836866C>T	ENSP00000380165:p.Gly207Asp					ZNF182_ENST00000376943.3_Missense_Mutation_p.G188D|ZNF182_ENST00000305127.6_Missense_Mutation_p.G207D	p.G207D	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	970	-			207					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.620G>A	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.569783	0.00895	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.27890	1.64;1.64;1.64	4.25	-0.934	0.10428	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14313	0.0346	N	0.08118	0	0.09310	N	1	B;B;B	0.27853	0.191;0.023;0.035	B;B;B	0.31686	0.134;0.046;0.018	T	0.27872	-1.0061	9	0.42905	T	0.14	.	4.8007	0.13296	0.5893:0.2155:0.0:0.1952	.	187;188;207	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	D	188;207;207	ENSP00000366142:G188D;ENSP00000380165:G207D;ENSP00000306351:G207D	ENSP00000306351:G207D	G	-	2	0	ZNF182	47721810	0.000000	0.05858	0.963000	0.40424	0.078000	0.17371	-1.541000	0.02198	-0.204000	0.10235	-1.142000	0.01873	GGC		0.368	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		8	35	0	0	0	1	0	8	35					T	47836866	C	T	47836866	3	4	435	1	0	0	0	0	1	0	0	0	17747	739	26	3	1303	3	ZNF182	23	47836866	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	62543	47836866	107433694	9089	30014											
TBC1D25	4943	broad.mit.edu	37	chrX	48417680	48417680	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggccagctctcccgaccCgaggagttgcgcctgcggat	6	6	15	14	4	1	0	0	0	1	0	2	5	1	2	4	3	3	2	4	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:48417680C>T	ENST00000376771.4	+	5	992	c.651C>T	c.(649-651)ccC>ccT	p.P217P	TBC1D25_ENST00000476141.1_3'UTR|snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	217					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TCTCCCGACCCGAGGAGTTGC	0.587																																						ENST00000376771.4																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(649-651)ccC>ccT		TBC1 domain family, member 25							77	58	64					X																	48417680		2203	4300	6503	SO:0001819	synonymous_variant	4943					intracellular	Rab GTPase activator activity	g.chrX:48417680C>T	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.651C>T	X.37:g.48417680C>T						TBC1D25_ENST00000537536.1_5'UTR|TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000427713.1_3'UTR	p.P217P	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN			5	992	+			217					Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	ENST00000376771.4	37	c.651C>T	CCDS35242.1																																																																																				0.587	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		5	2	0	0	0	1	0	5	2					T	48417680	C	T	48417680	2	4	435	1	0	0	0	0	0	0	0	1	15612	639	23	2		2	TBC1D25	23	48417680	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	580814	48417680	106852880	9090	30015											
TBC1D25	4943	broad.mit.edu	37	chrX	48418543	48418543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctggaactcaagcGtgagttcgccttcgacgatg	7	10	13	11	4	1	1	1	1	0	0	3	4	1	2	1	1	4	4	1	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:48418543G>A	ENST00000376771.4	+	6	1588	c.1247G>A	c.(1246-1248)cGt>cAt	p.R416H	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.R162H	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	416	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GAACTCAAGCGTGAGTTCGCC	0.572																																						ENST00000376771.4																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1246-1248)cGt>cAt		TBC1 domain family, member 25							37	24	28					X																	48418543		2203	4299	6502	SO:0001583	missense	4943					intracellular	Rab GTPase activator activity	g.chrX:48418543G>A	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1247G>A	X.37:g.48418543G>A	ENSP00000365962:p.Arg416His					TBC1D25_ENST00000537536.1_Missense_Mutation_p.R162H|TBC1D25_ENST00000427713.1_3'UTR	p.R416H	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN			6	1588	+			416			Rab-GAP TBC.		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	c.1247G>A	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.897253	0.72639	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.33216	1.42;1.42	5.49	5.49	0.81192	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	H	0.97365	3.99	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.82039	-0.0655	10	0.87932	D	0	-10.3373	15.752	0.77992	0.0:0.0:1.0:0.0	.	420;358;416	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	H	416;162	ENSP00000365962:R416H;ENSP00000444091:R162H	ENSP00000365962:R416H	R	+	2	0	TBC1D25	48303487	1.000000	0.71417	0.974000	0.42286	0.680000	0.39746	9.098000	0.94202	2.317000	0.78254	0.431000	0.28591	CGT		0.572	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		12	1	0	0	0	1	0	12	1					A	48418543	G	A	48418543	3	1	435	1	0	0	0	0	1	0	0	0	15612	1145	40	1	1269	1	TBC1D25	23	48418543	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	863	48418543	106852017	9091	30016											
OTUD5	55593	broad.mit.edu	37	chrX	48792092	48792092	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcttcctgttaatgtaggTggtaaagtcctctgtgacat	8	14	10	9	1	1	1	0	1	1	0	3	1	3	1	3	2	0	4	3	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:48792092T>C	ENST00000156084.4	-	4	862	c.802A>G	c.(802-804)Acc>Gcc	p.T268A	OTUD5_ENST00000396743.3_Missense_Mutation_p.T268A|OTUD5_ENST00000376488.3_Missense_Mutation_p.T268A|OTUD5_ENST00000428668.2_Missense_Mutation_p.T51A|OTUD5_ENST00000484499.1_5'UTR	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	268	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						TTAATGTAGGTGGTAAAGTCC	0.468																																						ENST00000156084.4																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						c.(802-804)Acc>Gcc		OTU domain containing 5							240	200	214					X																	48792092		2203	4300	6503	SO:0001583	missense	55593				negative regulation of type I interferon production		cysteine-type peptidase activity	g.chrX:48792092T>C		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"OTU domain containing"	25402	protein-coding gene	gene with protein product		300713	"OTU domain containing 5"			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.802A>G	X.37:g.48792092T>C	ENSP00000156084:p.Thr268Ala					OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000376488.3_Missense_Mutation_p.T268A|OTUD5_ENST00000396743.3_Missense_Mutation_p.T268A|OTUD5_ENST00000428668.2_Missense_Mutation_p.T51A	p.T268A	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN			4	862	-			268			OTU.		B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	c.802A>G	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.785708	0.49997	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.71	5.71	0.89125	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.25975	0.0633	N	0.05230	-0.09	0.80722	D	1	B;B;B	0.32862	0.137;0.387;0.335	B;B;B	0.35859	0.055;0.212;0.135	T	0.16689	-1.0394	10	0.32370	T	0.25	-14.1086	14.1176	0.65164	0.0:0.0:0.0:1.0	.	51;268;268	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	A	268;244;141;268;268;51	ENSP00000379969:T268A;ENSP00000390767:T141A;ENSP00000156084:T268A;ENSP00000365671:T268A;ENSP00000401629:T51A	ENSP00000156084:T268A	T	-	1	0	OTUD5	48677036	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.205000	0.65186	2.047000	0.60756	0.430000	0.28490	ACC		0.468	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602		60	18	0	0	0	1	0	60	18					C	48792092	T	C	48792092	3	2	435	1	0	0	0	0	1	0	0	0	11315	1696	59	4	937	4	OTUD5	23	48792092	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	373549	48792092	106478468	9092	30017											
TFE3	7030	broad.mit.edu	37	chrX	48891660	48891660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacctaccagagatctccCgtttgatgttgggcagctca	9	11	9	12	1	3	2	2	1	1	1	4	3	3	2	3	1	2	4	3	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:48891660C>T	ENST00000315869.7	-	6	1251	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	331					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						AGAGATCTCCCGTTTGATGTT	0.562			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"		"papillary renal, alveolar soft part sarcoma, renal"	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(991-993)cGg>cAg		transcription factor binding to IGHM enhancer 3							102	64	77					X																	48891660		2203	4300	6503	SO:0001583	missense	7030				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	g.chrX:48891660C>T	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"Basic helix-loop-helix proteins"	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.992G>A	X.37:g.48891660C>T	ENSP00000314129:p.Arg331Gln					TFE3_ENST00000493583.1_5'UTR	p.R331Q	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN			6	1251	-			331					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	c.992G>A	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	c	16.82	3.227692	0.58668	.	.	ENSG00000068323	ENST00000315869	T	0.16743	2.32	5.55	3.45	0.39498	.	0.112759	0.56097	D	0.000027	T	0.12774	0.0310	L	0.45137	1.4	0.41089	D	0.985585	B	0.21147	0.052	B	0.08055	0.003	T	0.09164	-1.0687	10	0.29301	T	0.29	-7.9152	7.095	0.25305	0.0:0.6651:0.1457:0.1891	.	331	P19532	TFE3_HUMAN	Q	331	ENSP00000314129:R331Q	ENSP00000314129:R331Q	R	-	2	0	TFE3	48778604	0.836000	0.29430	1.000000	0.80357	0.945000	0.59286	1.196000	0.32198	1.114000	0.41781	0.509000	0.49947	CGG		0.562	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		8	2	0	0	0	1	0	8	2					T	48891660	C	T	48891660	3	4	435	1	0	0	0	0	1	0	0	0	15797	652	23	2	755	2	TFE3	23	48891660	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	99568	48891660	106378900	9093	30018											
CCDC120	90060	broad.mit.edu	37	chrX	48924841	48924841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcagcaacagttctgaGgccctgctggtggaccgggc	6	6	15	14	3	1	1	0	1	1	0	1	2	1	2	3	4	3	4	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:48924841G>T	ENST00000376396.3	+	10	1305	c.1086G>T	c.(1084-1086)gaG>gaT	p.E362D	CCDC120_ENST00000496529.2_Missense_Mutation_p.E362D|CCDC120_ENST00000536628.2_Missense_Mutation_p.E350D|CCDC120_ENST00000597275.1_Missense_Mutation_p.E362D|CCDC120_ENST00000422185.2_Missense_Mutation_p.E362D|CCDC120_ENST00000603986.1_Missense_Mutation_p.E397D	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	362										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						ACAGTTCTGAGGCCCTGCTGG	0.721																																						ENST00000376396.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(1084-1086)gaG>gaT		coiled-coil domain containing 120							14	14	14					X																	48924841		2181	4230	6411	SO:0001583	missense	90060						protein binding	g.chrX:48924841G>T	BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.1086G>T	X.37:g.48924841G>T	ENSP00000365577:p.Glu362Asp					CCDC120_ENST00000597275.1_Missense_Mutation_p.E362D|CCDC120_ENST00000603986.1_Missense_Mutation_p.E397D|CCDC120_ENST00000536628.2_Missense_Mutation_p.E350D|CCDC120_ENST00000496529.2_Missense_Mutation_p.E362D|CCDC120_ENST00000422185.2_Missense_Mutation_p.E362D	p.E362D	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN			10	1305	+			362					B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	c.1086G>T	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261468	0.59431	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	5.28	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.62073	0.2398	L	0.37850	1.14	0.45502	D	0.998465	P;D;D;D	0.64830	0.956;0.994;0.994;0.994	D;D;D;D	0.70716	0.931;0.97;0.97;0.97	T	0.57831	-0.7743	9	0.42905	T	0.14	-19.1501	8.4137	0.32659	0.19:0.0:0.81:0.0	.	350;397;350;362	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	D	362;362;350	.	ENSP00000365577:E362D	E	+	3	2	CCDC120	48811785	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	2.901000	0.48695	0.442000	0.26555	0.529000	0.55759	GAG		0.721	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626		4	4	1	0	0.217242	1	0.217582	4	4					T	48924841	G	T	48924841	3	4	435	1	0	0	0	0	1	0	0	0	2756	991	35	5	1116	5	CCDC120	23	48924841	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33181	48924841	106345719	9094	30019											
PPP1R3F	89801	broad.mit.edu	37	chrX	49142941	49142941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagaaggggacagccccaagGaatcgcctccagaaatcctc	13	4	10	14	1	0	2	0	0	0	2	4	4	2	4	5	3	1	0	5	3	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:49142941G>A	ENST00000055335.6	+	4	1805	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	PPP1R3F_ENST00000438316.1_Missense_Mutation_p.E268K|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.E251K|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.E251K|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.E251K	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	597					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CAGCCCCAAGGAATCGCCTCC	0.617																																						ENST00000055335.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27						c.(1789-1791)Gaa>Aaa		protein phosphatase 1, regulatory subunit 3F							31	26	28					X																	49142941		2202	4300	6502	SO:0001583	missense	89801					integral to membrane		g.chrX:49142941G>A		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1789G>A	X.37:g.49142941G>A	ENSP00000055335:p.Glu597Lys					PPP1R3F_ENST00000438316.1_Missense_Mutation_p.E268K|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.E251K|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.E251K|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.E251K	p.E597K	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN			4	1805	+	Ovarian(276;0.236)		597					A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	c.1789G>A	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.627793	0.66901	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.60424	0.61;0.61;0.19;0.61;0.61	5.55	5.55	0.83447	.	0.106745	0.41194	D	0.000929	T	0.63319	0.2501	L	0.29908	0.895	0.33417	D	0.579364	D;D;D	0.67145	0.994;0.994;0.996	D;D;P	0.63703	0.917;0.917;0.824	T	0.73956	-0.3819	10	0.72032	D	0.01	-9.907	13.7756	0.63050	0.0:0.0:1.0:0.0	.	268;282;597	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	K	251;268;597;251;251	ENSP00000420687:E251K;ENSP00000415548:E268K;ENSP00000055335:E597K;ENSP00000417535:E251K;ENSP00000365359:E251K	ENSP00000055335:E597K	E	+	1	0	PPP1R3F	49029885	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.226000	0.51254	2.321000	0.78463	0.513000	0.50165	GAA		0.617	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		8	0	0	0	0	1	0	8	0					A	49142941	G	A	49142941	3	1	435	1	0	0	0	0	1	0	0	0	12375	1175	41	3	1803	3	PPP1R3F	23	49142941	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	218100	49142941	106127619	9095	30020											
DGKK	139189	broad.mit.edu	37	chrX	50213386	50213386	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggggccggctctgtggCaggttctggggccggttctg	1	12	18	10	2	4	0	0	0	4	0	4	0	4	0	2	8	0	4	2	8	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:50213386C>T	ENST00000376025.2	-	0	351							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ggctctgtggcaggttctggg	0.652																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							66	80	76					X																	50213386		1818	4055	5873			139189				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	g.chrX:50213386C>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213386C>T										Q5KSL6	DGKK_HUMAN			0	351	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.652	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		91	17	0	0	0	1	0	91	17					T	50213386	C	T	50213386	1	4	435	0	1	0	0	0	0	0	0	0	4472	710	25	3		3	DGKK	23	50213386	RNA	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1070445	50213386	105057174	9096	30021											
HUWE1	10075	broad.mit.edu	37	chrX	53561001	53561001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaggcgatctgtggacCtgtcatctcgatggatctga	9	10	13	9	2	4	1	1	1	3	0	5	5	4	3	1	4	0	1	1	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:53561001C>A	ENST00000342160.3	-	82	13446	c.12989G>T	c.(12988-12990)aGg>aTg	p.R4330M	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4330M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4330	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			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						ATCTGTGGACCTGTCATCTCG	0.488																																						ENST00000342160.3																			0				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						c.(12988-12990)aGg>aTg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							160	123	135					X																	53561001		2203	4300	6503	SO:0001583	missense	10075				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	g.chrX:53561001C>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12989G>T	X.37:g.53561001C>A	ENSP00000340648:p.Arg4330Met					HUWE1_ENST00000262854.6_Missense_Mutation_p.R4330M	p.R4330M			Q7Z6Z7	HUWE1_HUMAN			82	13446	-			4330			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.12989G>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.04|13.04	2.119751|2.119751	0.37436|0.37436	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.57907	.|0.37;0.37	5.42|5.42	5.42|5.42	0.78866|0.78866	.|HECT (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69851|0.69851	0.3157|0.3157	M|M	0.62209|0.62209	1.925|1.925	0.80722|0.80722	D|D	1|1	.|D;D	.|0.60575	.|0.988;0.985	.|D;D	.|0.71870	.|0.975;0.957	T|T	0.69957|0.69957	-0.5004|-0.5004	5|10	.|0.48119	.|T	.|0.1	.|.	17.2866|17.2866	0.87143|0.87143	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4330;4314	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	H|M	3363;1152|4330	.|ENSP00000340648:R4330M;ENSP00000262854:R4330M	.|ENSP00000262854:R4330M	Q|R	-|-	3|2	2|0	HUWE1|HUWE1	53577726|53577726	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.035000|7.035000	0.76517|0.76517	2.436000|2.436000	0.82500|0.82500	0.529000|0.529000	0.55759|0.55759	CAG|AGG		0.488	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		22	4	1	0	9.04412e-07	1	9.43082e-07	22	4					A	53561001	C	A	53561001	3	1	435	1	0	0	0	0	1	0	0	0	7461	681	24	5	143	5	HUWE1	23	53561001	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3347615	53561001	101709559	9097	30022											
HUWE1	10075	broad.mit.edu	37	chrX	53620387	53620387	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttctggacacctccaggCaatttggcaggcagcgaatg	11	8	12	10	1	1	0	0	0	1	0	2	2	2	1	2	4	1	4	2	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:53620387C>T	ENST00000342160.3	-	31	4135	c.3678G>A	c.(3676-3678)ttG>ttA	p.L1226L	HUWE1_ENST00000262854.6_Silent_p.L1226L|HUWE1_ENST00000218328.8_Silent_p.L1226L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1226					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			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						CACCTCCAGGCAATTTGGCAG	0.473																																						ENST00000342160.3																			0				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						c.(3676-3678)ttG>ttA		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							77	64	68					X																	53620387		2203	4300	6503	SO:0001819	synonymous_variant	10075				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	g.chrX:53620387C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.3678G>A	X.37:g.53620387C>T						HUWE1_ENST00000218328.8_Silent_p.L1226L|HUWE1_ENST00000262854.6_Silent_p.L1226L	p.L1226L			Q7Z6Z7	HUWE1_HUMAN			31	4135	-			1226					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.3678G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	8.986	0.976630	0.18736	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.23	2.14	0.27477	.	.	.	.	.	T	0.53626	0.1808	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43261	-0.9402	4	.	.	.	.	5.973	0.19363	0.1462:0.5934:0.0:0.2604	.	.	.	.	T	260	.	.	A	-	1	0	HUWE1	53637112	0.968000	0.33430	0.997000	0.53966	0.949000	0.60115	0.574000	0.23714	0.449000	0.26747	0.436000	0.28706	GCC		0.473	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		25	2	0	0	0	1	0	25	2					T	53620387	C	T	53620387	2	4	435	1	0	0	0	0	0	0	0	1	7461	709	25	3		3	HUWE1	23	53620387	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	59386	53620387	101650173	9098	30023											
WNK3	65267	broad.mit.edu	37	chrX	54359609	54359609	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcaacccatgtttcagtGtccagtcctttatatactgt	9	15	5	12	0	2	0	2	0	0	0	4	0	4	0	4	0	2	1	4	0	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:54359609G>A	ENST00000375159.2	-	1	497	c.498C>T	c.(496-498)gaC>gaT	p.D166D	WNK3_ENST00000354646.2_Silent_p.D166D|WNK3_ENST00000375169.3_Silent_p.D166D			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	166	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATGTTTCAGTGTCCAGTCCTT	0.408																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(496-498)gaC>gaT		WNK lysine deficient protein kinase 3							135	122	127					X																	54359609		2203	4300	6503	SO:0001819	synonymous_variant	65267				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	g.chrX:54359609G>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.498C>T	X.37:g.54359609G>A						WNK3_ENST00000375159.2_Silent_p.D166D|WNK3_ENST00000375169.3_Silent_p.D166D	p.D166D	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			2	936	-			166			Protein kinase.		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	ENST00000375159.2	37	c.498C>T	CCDS14357.1																																																																																				0.408	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		5	49	0	0	0	1	0	5	49					A	54359609	G	A	54359609	2	1	435	1	0	0	0	0	0	0	0	1	17376	1368	48	3		3	WNK3	23	54359609	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	739222	54359609	100910951	9099	30024											
FGD1	2245	broad.mit.edu	37	chrX	54475340	54475340	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatcagtgcacacacggtTggagcggttgttgtcataga	10	10	13	8	2	2	1	2	0	0	1	2	2	2	2	0	3	2	5	0	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:54475340T>C	ENST00000375135.3	-	16	3068	c.2335A>G	c.(2335-2337)Aac>Gac	p.N779D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	779					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CACACACGGTTGGAGCGGTTG	0.627																																						ENST00000375135.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(2335-2337)Aac>Gac		FYVE, RhoGEF and PH domain containing 1							62	45	51					X																	54475340		2203	4300	6503	SO:0001583	missense	2245				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	g.chrX:54475340T>C	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2335A>G	X.37:g.54475340T>C	ENSP00000364277:p.Asn779Asp						p.N779D	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			16	3068	-			779					Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.2335A>G	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.120327	0.56613	.	.	ENSG00000102302	ENST00000375135	T	0.10960	2.82	5.45	5.45	0.79879	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000015	T	0.11153	0.0272	N	0.17631	0.505	0.38952	D	0.95836	B	0.33549	0.417	B	0.40982	0.345	T	0.19943	-1.0290	10	0.59425	D	0.04	-18.1089	13.4958	0.61426	0.0:0.0:0.0:1.0	.	779	P98174	FGD1_HUMAN	D	779	ENSP00000364277:N779D	ENSP00000364277:N779D	N	-	1	0	FGD1	54492065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.225000	0.58600	1.830000	0.53286	0.417000	0.27973	AAC		0.627	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		5	0	0	0	0	1	0	5	0					C	54475340	T	C	54475340	3	2	435	1	0	0	0	0	1	0	0	0	5832	1812	63	4	562	4	FGD1	23	54475340	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	115731	54475340	100795220	9100	30025											
PAGE2	203569	broad.mit.edu	37	chrX	55117849	55117849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtcctgatgtcagggaggGtattatgcccacttttgatc	7	14	12	8	0	1	2	1	2	0	0	3	3	2	3	2	3	1	1	2	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:55117849G>A	ENST00000374968.4	+	4	382	c.278G>A	c.(277-279)gGt>gAt	p.G93D	PAGE2_ENST00000374965.1_Missense_Mutation_p.G76D	NM_207339.2	NP_997222.1	Q7Z2X7	PAGE2_HUMAN	P antigen family, member 2 (prostate associated)	93										endometrium(1)|large_intestine(2)|lung(1)|ovary(2)	6						GTCAGGGAGGGTATTATGCCC	0.398																																						ENST00000374968.4																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(2)	6						c.(277-279)gGt>gAt		P antigen family, member 2 (prostate associated)							173	191	185					X																	55117849		2173	4296	6469	SO:0001583	missense	203569							g.chrX:55117849G>A	BC054022	CCDS14367.1	Xp11.22	2009-06-17			ENSG00000234068	ENSG00000234068			31804	protein-coding gene	gene with protein product		300738	"G antigen, family C, 2"	GAGEC2		9724777	Standard	NM_207339		Approved	MGC62094, PAGE-2, CT16.4		Q7Z2X7	OTTHUMG00000021648	ENST00000374968.4:c.278G>A	X.37:g.55117849G>A	ENSP00000364107:p.Gly93Asp					PAGE2_ENST00000374965.1_Missense_Mutation_p.G76D	p.G93D	NM_207339.2	NP_997222.1					4	382	+								Q5JRK7|Q5JRK8	Missense_Mutation	SNP	ENST00000374968.4	37	c.278G>A	CCDS14367.1	.	.	.	.	.	.	.	.	.	.	g	4.426	0.078758	0.08533	.	.	ENSG00000234068	ENST00000374968;ENST00000374965	T;T	0.09538	2.97;2.97	1.13	-2.26	0.06867	.	.	.	.	.	T	0.13756	0.0333	L	0.57536	1.79	0.09310	N	1	P	0.49090	0.919	P	0.54346	0.749	T	0.07908	-1.0748	9	0.23891	T	0.37	.	0.0467	0.00010	0.2493:0.217:0.2285:0.3051	.	93	Q7Z2X7	GGEE2_HUMAN	D	93;76	ENSP00000364107:G93D;ENSP00000364104:G76D	ENSP00000364104:G76D	G	+	2	0	PAGE2	55134574	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.040000	0.12104	-2.102000	0.00845	0.287000	0.19450	GGT		0.398	PAGE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056857.1	NM_207339		90	18	0	0	0	1	0	90	18					A	55117849	G	A	55117849	3	1	435	1	0	0	0	0	1	0	0	0	11390	1261	44	3	288	3	PAGE2	23	55117849	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	642509	55117849	100152711	9101	30026											
RRAGB	10325	broad.mit.edu	37	chrX	55777598	55777598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attggaatgttcttgtttccGaacatctatctgggatgaaa	11	15	9	6	1	3	1	0	1	3	0	4	4	4	3	1	2	1	2	1	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:55777598G>A	ENST00000262850.7	+	7	1108	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	RRAGB_ENST00000474757.1_3'UTR|RRAGB_ENST00000374941.4_Missense_Mutation_p.R194Q	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						TCTTGTTTCCGAACATCTATC	0.373													G|||	1	0.000264901	0	0	3775	,	,		12752	0		0	False		,,,				2504	0.001					ENST00000374941.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						c.(580-582)cGa>cAa		Ras-related GTP binding B							93	78	83					X																	55777598		2203	4300	6503	SO:0001583	missense	10325				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	g.chrX:55777598G>A	X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.665G>A	X.37:g.55777598G>A	ENSP00000262850:p.Arg222Gln					RRAGB_ENST00000474757.1_3'UTR|RRAGB_ENST00000262850.7_Missense_Mutation_p.R222Q	p.R194Q	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN			6	1170	+			222						Missense_Mutation	SNP	ENST00000262850.7	37	c.581G>A	CCDS14372.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351054	0.41599	.	.	ENSG00000083750	ENST00000374941;ENST00000414239;ENST00000262850	T;T	0.62941	-0.01;-0.0	4.59	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	L	0.31420	0.93	0.58432	D	0.999997	B;B	0.24823	0.037;0.112	B;B	0.22753	0.018;0.041	T	0.23726	-1.0180	10	0.12766	T	0.61	-4.8534	11.6747	0.51424	0.0:0.1767:0.8233:0.0	.	194;222	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	Q	194;156;222	ENSP00000364077:R194Q;ENSP00000410630:R156Q	ENSP00000262850:R222Q	R	+	2	0	RRAGB	55794323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.008000	0.93601	0.834000	0.34852	0.600000	0.82982	CGA		0.373	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	NM_016656		18	5	0	0	0	1	0	18	5					A	55777598	G	A	55777598	3	1	435	1	0	0	0	0	1	0	0	0	13673	1058	37	2	691	2	RRAGB	23	55777598	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	659749	55777598	99492962	9102	30027											
FAAH2	158584	broad.mit.edu	37	chrX	57515244	57515244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgcccactgggactgaatgCcaaaggactccctttaggca	11	8	10	12	0	0	1	0	1	0	0	1	3	1	3	3	3	2	1	3	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:57515244C>T	ENST00000374900.4	+	11	1598	c.1478C>T	c.(1477-1479)gCc>gTc	p.A493V	FAAH2_ENST00000491179.1_3'UTR	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	493						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GGACTGAATGCCAAAGGACTC	0.502										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(1477-1479)gCc>gTc		fatty acid amide hydrolase 2							81	68	72					X																	57515244		2203	4300	6503	SO:0001583	missense	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57515244C>T	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"amidase domain containing"	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.1478C>T	X.37:g.57515244C>T	ENSP00000364035:p.Ala493Val	HNSCC(52;0.14)				FAAH2_ENST00000491179.1_3'UTR	p.A493V	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			11	1598	+			493					Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	c.1478C>T	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	c	4.960	0.178388	0.09443	.	.	ENSG00000165591	ENST00000374900	T	0.56444	0.46	2.46	-1.28	0.09318	Amidase signature domain (2);	1.185740	0.06231	N	0.688694	T	0.43656	0.1257	L	0.43152	1.355	0.19945	N	0.999949	B	0.28760	0.221	B	0.36030	0.216	T	0.35919	-0.9769	10	0.27785	T	0.31	.	3.6212	0.08096	0.1925:0.5095:0.0:0.298	.	493	Q6GMR7	FAAH2_HUMAN	V	493	ENSP00000364035:A493V	ENSP00000364035:A493V	A	+	2	0	FAAH2	57531969	0.754000	0.28360	0.959000	0.39883	0.280000	0.26924	0.334000	0.19787	-0.550000	0.06183	-1.232000	0.01568	GCC		0.502	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		16	18	0	0	0	1	0	16	18					T	57515244	C	T	57515244	3	4	435	1	0	0	0	0	1	0	0	0	5354	739	26	3	1520	3	FAAH2	23	57515244	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1737646	57515244	97755316	9103	30028											
FAM123B	139285	broad.mit.edu	37	chrX	63410418	63410418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctgcagctcatcagactCgaggtagccctggaccaagt	9	7	12	13	1	2	1	2	0	0	1	3	3	2	2	3	3	3	3	3	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:63410418C>T	ENST00000330258.3	-	2	3021	c.2749G>A	c.(2749-2751)Gag>Aag	p.E917K	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	917					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									TCATCAGACTCGAGGTAGCCC	0.567																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(2749-2751)Gag>Aag		APC membrane recruitment protein 1							50	49	49					X																	63410418		2024	4169	6193	SO:0001583	missense	139285							g.chrX:63410418C>T	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2749G>A	X.37:g.63410418C>T	ENSP00000329117:p.Glu917Lys					AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	p.E917K	NM_152424.3	NP_689637.3					2	3021	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.2749G>A	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	4.145	0.025342	0.08054	.	.	ENSG00000184675	ENST00000330258	T	0.41065	1.01	4.79	4.79	0.61399	.	.	.	.	.	T	0.24509	0.0594	N	0.24115	0.695	0.80722	D	1	B	0.23058	0.079	B	0.11329	0.006	T	0.09862	-1.0655	8	.	.	.	-1.8284	6.5483	0.22418	0.0:0.8005:0.0:0.1995	.	917	Q5JTC6	F123B_HUMAN	K	917	ENSP00000329117:E917K	.	E	-	1	0	FAM123B	63327143	0.695000	0.27747	0.861000	0.33841	0.324000	0.28378	1.757000	0.38400	2.385000	0.81259	0.529000	0.55759	GAG		0.567	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		11	28	0	0	0	1	0	11	28					T	63410418	C	T	63410418	3	4	435	1	0	0	0	0	1	0	0	0	5423	893	31	2	662	2	FAM123B	23	63410418	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5895174	63410418	91860142	9104	30029											
ASB12	142689	broad.mit.edu	37	chrX	63444281	63444281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggttgatggcttgtggCtggccagcctggcacaaggc	6	9	16	10	0	0	1	0	1	0	0	0	1	0	1	2	6	2	5	2	6	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:63444281C>T	ENST00000396130.2	-	2	863	c.864G>A	c.(862-864)caG>caA	p.Q288Q	MTMR8_ENST00000453546.1_Silent_p.Q672Q|ASB12_ENST00000362002.2_Silent_p.Q297Q			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	288	SOCS box.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						TGGCTTGTGGCTGGCCAGCCT	0.512																																						ENST00000453546.1																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(2014-2016)caG>caA		myotubularin related protein 8							118	92	101					X																	63444281		2203	4300	6503	SO:0001819	synonymous_variant	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63444281C>T	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"Ankyrin repeat domain containing"	19763	protein-coding gene	gene with protein product		300891	"ankyrin repeat and SOCS box-containing 12"			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.864G>A	X.37:g.63444281C>T						ASB12_ENST00000396130.2_Silent_p.Q288Q|ASB12_ENST00000362002.2_Silent_p.Q297Q	p.Q672Q			Q96EF0	MTMR8_HUMAN			11	2105	-			0					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Silent	SNP	ENST00000396130.2	37	c.2016G>A																																																																																					0.512	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				16	23	0	0	0	1	0	16	23					T	63444281	C	T	63444281	2	4	435	1	0	0	0	0	0	0	0	1	1016	796	28	3		3	ASB12	23	63444281	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33863	63444281	91826279	9105	30030											
ASB12	142689	broad.mit.edu	37	chrX	63444983	63444983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcggccaaatagagggggCcagaacatgaagctatgttt	12	8	13	8	1	0	3	0	1	0	2	0	3	0	3	2	3	3	2	2	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:63444983C>T	ENST00000396130.2	-	1	520	c.521G>A	c.(520-522)gGc>gAc	p.G174D	MTMR8_ENST00000453546.1_Missense_Mutation_p.G558D|ASB12_ENST00000362002.2_Missense_Mutation_p.G183D			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	174					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						ATAGAGGGGGCCAGAACATGA	0.562																																						ENST00000453546.1																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1672-1674)gGc>gAc		myotubularin related protein 8							76	68	71					X																	63444983		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63444983C>T	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"Ankyrin repeat domain containing"	19763	protein-coding gene	gene with protein product		300891	"ankyrin repeat and SOCS box-containing 12"			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.521G>A	X.37:g.63444983C>T	ENSP00000379435:p.Gly174Asp					ASB12_ENST00000396130.2_Missense_Mutation_p.G174D|ASB12_ENST00000362002.2_Missense_Mutation_p.G183D	p.G558D			Q96EF0	MTMR8_HUMAN			10	1762	-			0					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37	c.1673G>A		.	.	.	.	.	.	.	.	.	.	C	20.9	4.066306	0.76187	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.76578	0.01;0.04;-1.03	4.0	4.0	0.46444	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.80691	0.4671	L	0.27053	0.805	0.36377	D	0.861693	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85746	0.1340	10	0.66056	D	0.02	-2.8088	14.2368	0.65932	0.0:1.0:0.0:0.0	.	558;174	B4DQL0;Q8WXK4	.;ASB12_HUMAN	D	183;174;183;558	ENSP00000355195:G183D;ENSP00000379435:G174D;ENSP00000394003:G558D	ENSP00000354626:G183D	G	-	2	0	ASB12;MTMR8	63361708	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.023000	0.76437	1.986000	0.57962	0.468000	0.43344	GGC		0.562	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				3	15	0	0	0	1	0	3	15					T	63444983	C	T	63444983	3	4	435	1	0	0	0	0	1	0	0	0	1016	739	26	3	416	3	ASB12	23	63444983	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	702	63444983	91825577	9106	30031											
MTMR8	55613	broad.mit.edu	37	chrX	63488557	63488557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccagtggcctcagagatgtCcatggccccacagattccta	9	8	10	14	0	1	2	1	0	0	2	3	3	3	2	6	2	0	0	6	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:63488557C>T	ENST00000374852.3	-	14	2042	c.1975G>A	c.(1975-1977)Gac>Aac	p.D659N	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	659						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TCAGAGATGTCCATGGCCCCA	0.557																																						ENST00000374852.3																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1975-1977)Gac>Aac		myotubularin related protein 8							81	72	75					X																	63488557		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63488557C>T	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1975G>A	X.37:g.63488557C>T	ENSP00000363985:p.Asp659Asn					MTMR8_ENST00000453546.1_Intron	p.D659N	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN			14	2042	-			659					Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.1975G>A	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.149|9.149	1.015794|1.015794	0.19355|0.19355	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000374852;ENST00000247400|ENST00000442913	D|.	0.94232|.	-3.38|.	2.72|2.72	0.842|0.842	0.18927|0.18927	.|.	.|.	.|.	.|.	.|.	T|T	0.16514|0.16514	0.0397|0.0397	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.13594|.	0.008|.	B|.	0.04013|.	0.001|.	T|T	0.29058|0.29058	-1.0024|-1.0024	9|5	0.59425|.	D|.	0.04|.	.|.	6.7106|6.7106	0.23274|0.23274	0.0:0.7201:0.0:0.2799|0.0:0.7201:0.0:0.2799	.|.	659|.	Q96EF0|.	MTMR8_HUMAN|.	N|E	659;545|462	ENSP00000363985:D659N|.	ENSP00000247400:D545N|.	D|G	-|-	1|2	0|0	MTMR8|MTMR8	63405282|63405282	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.270000|-0.270000	0.08584|0.08584	-0.031000|-0.031000	0.13781|0.13781	-0.312000|-0.312000	0.09012|0.09012	GAC|GGA		0.557	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		20	21	0	0	0	1	0	20	21					T	63488557	C	T	63488557	3	4	435	1	0	0	0	0	1	0	0	0	9949	855	30	3	143	3	MTMR8	23	63488557	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	43574	63488557	91782003	9107	30032											
MTMR8	55613	broad.mit.edu	37	chrX	63488627	63488627	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacatgtctccagagatGcccatggcctcagagatgcc	9	8	11	13	0	2	2	1	0	1	2	3	4	2	2	4	1	3	1	4	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:63488627G>A	ENST00000374852.3	-	14	1972	c.1905C>T	c.(1903-1905)ggC>ggT	p.G635G	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	635						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CTCCAGAGATGCCCATGGCCT	0.537																																						ENST00000374852.3																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1903-1905)ggC>ggT		myotubularin related protein 8							91	75	80					X																	63488627		2203	4300	6503	SO:0001819	synonymous_variant	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63488627G>A	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1905C>T	X.37:g.63488627G>A						MTMR8_ENST00000453546.1_Intron	p.G635G	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN			14	1972	-			635					Q5JT99|Q9NXP6	Silent	SNP	ENST00000374852.3	37	c.1905C>T	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	G	2.186	-0.386364	0.04966	.	.	ENSG00000102043	ENST00000442913	.	.	.	3.99	0.417	0.16421	.	.	.	.	.	T	0.20088	0.0483	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22034	-1.0228	4	.	.	.	.	0.8162	0.01103	0.2729:0.1631:0.3866:0.1774	.	.	.	.	Y	439	.	.	H	-	1	0	MTMR8	63405352	0.095000	0.21747	0.000000	0.03702	0.001000	0.01503	-0.070000	0.11523	-0.163000	0.10946	-0.312000	0.09012	CAT		0.537	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		17	16	0	0	0	1	0	17	16					A	63488627	G	A	63488627	2	1	435	1	0	0	0	0	0	0	0	1	9949	1306	46	3		3	MTMR8	23	63488627	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	70	63488627	91781933	9108	30033											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722867	64722867	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccagtcatggtacggagCgtgcctgaaaagatggagca	12	6	15	8	2	1	2	1	1	0	1	1	5	1	4	2	3	5	2	2	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:64722867C>T	ENST00000338957.4	+	5	2356	c.2289C>T	c.(2287-2289)agC>agT	p.S763S	ZC3H12B_ENST00000423889.3_Silent_p.S752S	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	763							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGTACGGAGCGTGCCTGAAA	0.512																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2287-2289)agC>agT		zinc finger CCCH-type containing 12B							115	113	114					X																	64722867		2176	4262	6438	SO:0001819	synonymous_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722867C>T	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.2289C>T	X.37:g.64722867C>T						ZC3H12B_ENST00000423889.3_Silent_p.S752S	p.S763S	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			5	2356	+			752					B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	ENST00000338957.4	37	c.2289C>T	CCDS48131.2																																																																																				0.512	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		21	3	0	0	0	1	0	21	3					T	64722867	C	T	64722867	2	4	435	1	0	0	0	0	0	0	0	1	17559	767	27	1		1	ZC3H12B	23	64722867	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1234240	64722867	90547693	9109	30034											
HEPH	9843	broad.mit.edu	37	chrX	65483509	65483509	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaagccctctcaccgtcAtcaccaaagagactgaaaaa	16	7	5	13	1	3	2	3	1	1	1	4	3	3	2	3	0	1	0	3	0	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:65483509A>G	ENST00000343002.2	+	19	3887	c.3223A>G	c.(3223-3225)Atc>Gtc	p.I1075V	HEPH_ENST00000519389.1_Missense_Mutation_p.I1129V|HEPH_ENST00000336279.5_Missense_Mutation_p.I808V|HEPH_ENST00000374727.3_Missense_Mutation_p.I1078V|HEPH_ENST00000419594.1_Missense_Mutation_p.I886V|HEPH_ENST00000441993.2_Missense_Mutation_p.I1078V			Q9BQS7	HEPH_HUMAN	hephaestin	1075	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCTCACCGTCATCACCAAAGA	0.443																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(3385-3387)Atc>Gtc		hephaestin							205	144	165					X																	65483509		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65483509A>G	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3223A>G	X.37:g.65483509A>G	ENSP00000343939:p.Ile1075Val					HEPH_ENST00000374727.3_Missense_Mutation_p.I1078V|HEPH_ENST00000419594.1_Missense_Mutation_p.I886V|HEPH_ENST00000343002.2_Missense_Mutation_p.I1075V|HEPH_ENST00000336279.5_Missense_Mutation_p.I808V|HEPH_ENST00000441993.2_Missense_Mutation_p.I1078V	p.I1129V			Q9BQS7	HEPH_HUMAN			20	3564	+			1075					B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.3385A>G		.	.	.	.	.	.	.	.	.	.	A	0.008	-1.896562	0.00522	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99226	-5.59;-5.57;-5.57;-5.53;-5.57;-5.57	3.95	3.95	0.45737	.	0.622863	0.15665	N	0.250705	D	0.95345	0.8489	N	0.08118	0	0.09310	N	1	B;B;B	0.12630	0.0;0.006;0.0	B;B;B	0.14578	0.0;0.011;0.0	D	0.89895	0.4040	10	0.13108	T	0.6	.	8.3072	0.32049	1.0:0.0:0.0:0.0	.	1129;886;1075	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	V	1129;1078;808;1078;886;1075	ENSP00000430620:I1129V;ENSP00000363859:I1078V;ENSP00000337418:I808V;ENSP00000411687:I1078V;ENSP00000413211:I886V;ENSP00000343939:I1075V	ENSP00000337418:I808V	I	+	1	0	HEPH	65400234	0.001000	0.12720	0.022000	0.16811	0.051000	0.14879	1.170000	0.31883	1.779000	0.52309	0.486000	0.48141	ATC		0.443	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		32	5	0	0	0	1	0	32	5					G	65483509	A	G	65483509	3	3	435	1	0	0	0	0	1	0	0	0	7054	217	8	4	3463	4	HEPH	23	65483509	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	760642	65483509	89787051	9110	30035											
IGBP1	3476	broad.mit.edu	37	chrX	69354563	69354563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtggcagagtttgagctgCccaaaaccatgaacaactct	13	9	9	10	0	1	3	0	2	1	1	1	3	1	3	2	1	5	3	2	1	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:69354563C>T	ENST00000342206.6	+	2	878	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	IGBP1_ENST00000356413.4_Missense_Mutation_p.P127S			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	127	Interaction with PPP2CA.				B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						GTTTGAGCTGCCCAAAACCAT	0.453																																					NSCLC(167;1189 1558 6576 8216 30387 37980 41450)	ENST00000342206.6																			0				kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						c.(379-381)Ccc>Tcc		immunoglobulin (CD79A) binding protein 1							79	67	71					X																	69354563		2203	4300	6503	SO:0001583	missense	3476				B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity	g.chrX:69354563C>T	Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"alpha 4"	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.379C>T	X.37:g.69354563C>T	ENSP00000363661:p.Pro127Ser					IGBP1_ENST00000356413.4_Missense_Mutation_p.P127S	p.P127S			P78318	IGBP1_HUMAN			2	878	+			127					Q8TAB2	Missense_Mutation	SNP	ENST00000342206.6	37	c.379C>T	CCDS14396.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.146788	0.77888	.	.	ENSG00000089289	ENST00000342206;ENST00000356413	T;T	0.39406	1.08;1.08	4.81	4.81	0.61882	.	0.052958	0.85682	D	0.000000	T	0.61198	0.2328	M	0.67397	2.05	0.80722	D	1	D	0.61697	0.99	D	0.69654	0.965	T	0.64820	-0.6317	10	0.72032	D	0.01	.	14.4028	0.67060	0.0:1.0:0.0:0.0	.	127	P78318	IGBP1_HUMAN	S	127	ENSP00000363661:P127S;ENSP00000348784:P127S	ENSP00000363661:P127S	P	+	1	0	IGBP1	69271288	1.000000	0.71417	0.997000	0.53966	0.795000	0.44927	6.175000	0.71949	2.368000	0.80403	0.600000	0.82982	CCC		0.453	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057052.1			3	19	0	0	0	1	0	3	19					T	69354563	C	T	69354563	3	4	435	1	0	0	0	0	1	0	0	0	7567	739	26	3	385	3	IGBP1	23	69354563	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3871054	69354563	85915997	9111	30036											
P2RY4	5030	broad.mit.edu	37	chrX	69478929	69478929	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgtcatggcacaggacGgtggtccctttgttgctggt	4	13	16	8	1	1	0	1	0	0	0	2	1	2	1	1	6	1	3	1	6	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:69478929G>A	ENST00000374519.2	-	1	725	c.546C>T	c.(544-546)acC>acT	p.T182T		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	182					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GGCACAGGACGGTGGTCCCTT	0.602																																						ENST00000374519.2																			0				cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						c.(544-546)acC>acT		pyrimidinergic receptor P2Y, G-protein coupled, 4							86	78	81					X																	69478929		2203	4300	6503	SO:0001819	synonymous_variant	5030				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	g.chrX:69478929G>A	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.546C>T	X.37:g.69478929G>A							p.T182T	NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN			1	725	-			182					Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Silent	SNP	ENST00000374519.2	37	c.546C>T	CCDS14398.1																																																																																				0.602	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565		13	4	0	0	0	1	0	13	4					A	69478929	G	A	69478929	2	1	435	1	0	0	0	0	0	0	0	1	11353	1103	39	2		2	P2RY4	23	69478929	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	124366	69478929	85791631	9112	30037											
TEX11	56159	broad.mit.edu	37	chrX	69749738	69749738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggttaaggaaacgcaaggCcaggccacaccacttttcag	12	7	11	11	1	1	0	1	0	0	0	1	1	1	1	3	4	1	2	3	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:69749738C>T	ENST00000395889.2	-	30	2832	c.2677G>A	c.(2677-2679)Gcc>Acc	p.A893T	TEX11_ENST00000374333.2_Missense_Mutation_p.A878T|TEX11_ENST00000374320.2_Missense_Mutation_p.A568T|TEX11_ENST00000344304.3_Missense_Mutation_p.A893T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	893					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AAACGCAAGGCCAGGCCACAC	0.498																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(2677-2679)Gcc>Acc		testis expressed 11							124	89	100					X																	69749738		2203	4300	6503	SO:0001583	missense	0						protein binding	g.chrX:69749738C>T	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2677G>A	X.37:g.69749738C>T	ENSP00000379226:p.Ala893Thr					TEX11_ENST00000374320.2_Missense_Mutation_p.A568T|TEX11_ENST00000374333.2_Missense_Mutation_p.A878T|TEX11_ENST00000344304.3_Missense_Mutation_p.A893T	p.A893T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			30	2832	-	Renal(35;0.156)		893					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.2677G>A	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	9.286	1.049466	0.19827	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.59083	0.93;0.94;0.29;0.94	4.33	1.44	0.22558	.	0.289314	0.27631	N	0.018507	T	0.40297	0.1111	L	0.39147	1.195	0.09310	N	1	B;B	0.31459	0.324;0.218	B;B	0.31686	0.134;0.063	T	0.17501	-1.0367	9	.	.	.	-0.0432	3.7666	0.08624	0.1658:0.5785:0.1582:0.0975	.	878;893	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	T	878;893;568;893	ENSP00000363453:A878T;ENSP00000379226:A893T;ENSP00000363440:A568T;ENSP00000340995:A893T	.	A	-	1	0	TEX11	69666463	0.929000	0.31497	0.000000	0.03702	0.210000	0.24377	2.175000	0.42491	-0.019000	0.14055	0.500000	0.49745	GCC		0.498	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			26	6	0	0	0	1	0	26	6					T	69749738	C	T	69749738	3	4	435	1	0	0	0	0	1	0	0	0	15771	739	26	3	153	3	TEX11	23	69749738	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	270809	69749738	85520822	9113	30038											
NLGN3	54413	broad.mit.edu	37	chrX	70367895	70367895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtcgggcatccggaacgCcacacactttcccccagtgt	7	8	10	16	3	0	0	0	0	0	0	3	1	2	1	4	3	1	1	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:70367895C>T	ENST00000358741.3	+	2	599	c.296C>T	c.(295-297)gCc>gTc	p.A99V	NLGN3_ENST00000374051.3_Missense_Mutation_p.A99V|NLGN3_ENST00000536169.1_Missense_Mutation_p.A99V	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	99					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ATCCGGAACGCCACACACTTT	0.617																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(295-297)gCc>gTc		neuroligin 3							81	56	64					X																	70367895		2203	4300	6503	SO:0001583	missense	54413				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	g.chrX:70367895C>T	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.296C>T	X.37:g.70367895C>T	ENSP00000351591:p.Ala99Val					NLGN3_ENST00000536169.1_Missense_Mutation_p.A99V|NLGN3_ENST00000358741.3_Missense_Mutation_p.A99V	p.A99V	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			2	618	+	Renal(35;0.156)		99					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.296C>T	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266134	0.80358	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	4.41	4.41	0.53225	.	0.312041	0.34002	N	0.004350	T	0.80166	0.4573	M	0.82823	2.61	0.80722	D	1	P;P;B	0.40534	0.634;0.72;0.232	B;B;B	0.38562	0.276;0.212;0.053	D	0.84727	0.0743	10	0.66056	D	0.02	.	16.4169	0.83745	0.0:1.0:0.0:0.0	.	99;99;99	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	V	99	ENSP00000445298:A99V;ENSP00000363163:A99V;ENSP00000379196:A99V;ENSP00000351591:A99V	ENSP00000351591:A99V	A	+	2	0	NLGN3	70284620	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.320000	0.79064	2.044000	0.60594	0.436000	0.28706	GCC		0.617	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		12	5	0	0	0	1	0	12	5					T	70367895	C	T	70367895	3	4	435	1	0	0	0	0	1	0	0	0	10463	739	26	3	298	3	NLGN3	23	70367895	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	618157	70367895	84902665	9114	30039											
ZMYM3	9203	broad.mit.edu	37	chrX	70471081	70471081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggttctgctctcctaacgCgctcgcttctcttctgtacc	4	14	8	15	3	4	0	0	0	4	0	7	1	4	0	2	1	3	5	2	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:70471081C>T	ENST00000353904.2	-	4	912	c.725G>A	c.(724-726)cGc>cAc	p.R242H	ZMYM3_ENST00000314425.5_Missense_Mutation_p.R242H|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R244H|ZMYM3_ENST00000373998.1_Missense_Mutation_p.R242H|ZMYM3_ENST00000373978.1_Missense_Mutation_p.R244H|ZMYM3_ENST00000373982.1_Missense_Mutation_p.R244H|ZMYM3_ENST00000373981.1_Missense_Mutation_p.R242H|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R244H|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	242					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)					TCTCCTAACGCGCTCGCTTCT	0.522																																						ENST00000373998.1																			0				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						c.(724-726)cGc>cAc		zinc finger, MYM-type 3							126	106	113					X																	70471081		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70471081C>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.725G>A	X.37:g.70471081C>T	ENSP00000343909:p.Arg242His					ZMYM3_ENST00000373984.3_Missense_Mutation_p.R244H|ZMYM3_ENST00000373981.1_Missense_Mutation_p.R242H|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R244H|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R242H|ZMYM3_ENST00000353904.2_Missense_Mutation_p.R242H|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Missense_Mutation_p.R244H|ZMYM3_ENST00000373978.1_Missense_Mutation_p.R244H	p.R242H	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			4	1422	-	Renal(35;0.156)		242					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.725G>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.049586	0.75846	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T	0.58358	1.25;0.65;1.25;1.23;1.25;0.35;0.34	4.5	4.5	0.54988	.	0.222106	0.31976	N	0.006776	T	0.61085	0.2319	L	0.29908	0.895	0.41406	D	0.987709	D;D;D	0.89917	1.0;0.999;0.998	P;D;P	0.68353	0.902;0.957;0.906	T	0.66064	-0.6016	10	0.59425	D	0.04	-10.8369	16.6057	0.84828	0.0:1.0:0.0:0.0	.	242;242;242	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	H	242;242;242;244;244;244;242;244	ENSP00000322845:R242H;ENSP00000363110:R242H;ENSP00000343909:R242H;ENSP00000363096:R244H;ENSP00000363100:R244H;ENSP00000363094:R244H;ENSP00000363093:R242H	ENSP00000322845:R242H	R	-	2	0	ZMYM3	70387806	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.894000	0.63206	2.091000	0.63221	0.519000	0.50382	CGC		0.522	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		13	5	0	0	0	1	0	13	5					T	70471081	C	T	70471081	3	4	435	1	0	0	0	0	1	0	0	0	17698	768	27	1	3493	1	ZMYM3	23	70471081	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	103186	70471081	84799479	9115	30040											
NONO	4841	broad.mit.edu	37	chrX	70519912	70519912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatttgccccaaacaaaCgtcgccgatactaataagtt	14	10	6	11	3	0	1	0	1	0	0	1	2	0	1	3	0	4	1	3	0	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:70519912C>T	ENST00000276079.8	+	12	1607	c.1402C>T	c.(1402-1404)Cgt>Tgt	p.R468C	NONO_ENST00000535149.1_Missense_Mutation_p.R379C|NONO_ENST00000373856.3_Missense_Mutation_p.R468C|NONO_ENST00000490044.1_3'UTR|ITGB1BP2_ENST00000538820.1_5'Flank|ITGB1BP2_ENST00000373829.3_5'Flank|NONO_ENST00000373841.1_Missense_Mutation_p.R468C	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	468					circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CCCAAACAAACGTCGCCGATA	0.468			T	TFE3	papillary renal cancer																																	ENST00000535149.1				Dom	yes		X	Xq13.1	4841	T	"non-POU domain containing, octamer-binding"			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(1135-1137)Cgt>Tgt		non-POU domain containing, octamer-binding							92	80	84					X																	70519912		2203	4300	6503	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70519912C>T	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"RNA binding motif (RRM) containing"	7871	protein-coding gene	gene with protein product	"Nuclear RNA-binding protein, 54-kD", "non-Pou domain-containing octamer (ATGCAAAT) binding protein", "protein phosphatase 1, regulatory subunit 114"	300084	"non-POU-domain-containing, octamer-binding"			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.1402C>T	X.37:g.70519912C>T	ENSP00000276079:p.Arg468Cys					NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.R468C|NONO_ENST00000373841.1_Missense_Mutation_p.R468C|NONO_ENST00000276079.8_Missense_Mutation_p.R468C	p.R379C	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN			10	1778	+	Renal(35;0.156)		468					B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.1135C>T	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	-	18.97	3.735989	0.69189	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841	T;T;T;T	0.21932	2.02;1.98;1.98;1.98	4.87	4.87	0.63330	.	0.114545	0.64402	D	0.000010	T	0.38480	0.1042	L	0.41492	1.28	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.22871	-1.0204	10	0.87932	D	0	-5.6105	17.2567	0.87059	0.0:1.0:0.0:0.0	.	468	Q15233	NONO_HUMAN	C	379;468;468;468	ENSP00000441364:R379C;ENSP00000276079:R468C;ENSP00000362963:R468C;ENSP00000362947:R468C	ENSP00000276079:R468C	R	+	1	0	NONO	70436637	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.161000	0.64935	2.256000	0.74724	0.529000	0.55759	CGT		0.468	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		8	26	0	0	0	1	0	8	26					T	70519912	C	T	70519912	3	4	435	1	0	0	0	0	1	0	0	0	10534	536	19	1	1440	1	NONO	23	70519912	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	48831	70519912	84750648	9116	30041											
ACRC	93953	broad.mit.edu	37	chrX	70817888	70817888	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattggaaataaacagcgacGgcaagtatatattactttgt	15	13	8	5	2	0	0	0	0	0	0	0	2	0	1	0	2	3	2	0	2	9	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:70817888G>A	ENST00000373695.1	+	6	847	c.310G>A	c.(310-312)Gat>Aat	p.D104N	ACRC_ENST00000373696.3_Splice_Site_p.D104N			Q96QF7	ACRC_HUMAN	acidic repeat containing	104						nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AAACAGCGACGGCAAGTATAT	0.418																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.e6+1		acidic repeat containing							104	83	90					X																	70817888		2203	4300	6503	SO:0001630	splice_region_variant	93953					nucleus		g.chrX:70817888G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.310+1G>A	X.37:g.70817888G>A						ACRC_ENST00000373696.3_Splice_Site_p.D104_splice	p.D104_splice			Q96QF7	ACRC_HUMAN			6	847	+	Renal(35;0.156)		104					B9EG62	Splice_Site	SNP	ENST00000373695.1	37	c.310_splice	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500710	0.44455	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.58210	0.35;0.35	3.68	3.68	0.42216	.	.	.	.	.	T	0.47746	0.1462	N	0.14661	0.345	0.09310	N	0.999995	D	0.76494	0.999	P	0.55508	0.777	T	0.34129	-0.9841	9	0.87932	D	0	.	9.9719	0.41759	0.0:0.0:1.0:0.0	.	104	Q96QF7	ACRC_HUMAN	N	104	ENSP00000362800:D104N;ENSP00000362799:D104N	ENSP00000362799:D104N	D	+	1	0	ACRC	70734613	0.977000	0.34250	0.461000	0.27105	0.075000	0.17131	3.516000	0.53436	2.105000	0.64084	0.468000	0.43344	GAT		0.418	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1		Missense_Mutation	15	5	0	0	0	1	0	15	5					A	70817888	G	A	70817888	5	1	435	1	0	0	0	0	0	0	1	0	171	1130	39	2	332	2	ACRC	23	70817888	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	297976	70817888	84452672	9117	30042											
PHKA1	5255	broad.mit.edu	37	chrX	71800950	71800950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaaacctgccactgggtgCactgtcatacagaagagtac	12	7	10	12	0	1	2	1	0	0	2	1	2	1	2	3	1	5	2	3	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:71800950C>T	ENST00000373542.4	-	32	3733	c.3574G>A	c.(3574-3576)Gca>Aca	p.A1192T	PHKA1_ENST00000373545.3_Missense_Mutation_p.A1150T|PHKA1_ENST00000339490.3_Missense_Mutation_p.A1179T|PHKA1_ENST00000541944.1_Missense_Mutation_p.A1120T|PHKA1_ENST00000373539.3_Missense_Mutation_p.A1209T	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1192					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCACTGGGTGCACTGTCATAC	0.532																																						ENST00000373545.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3448-3450)Gca>Aca		phosphorylase kinase, alpha 1 (muscle)							116	91	100					X																	71800950		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71800950C>T		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3574G>A	X.37:g.71800950C>T	ENSP00000362643:p.Ala1192Thr					PHKA1_ENST00000373539.3_Missense_Mutation_p.A1209T|PHKA1_ENST00000339490.3_Missense_Mutation_p.A1179T|PHKA1_ENST00000373542.4_Missense_Mutation_p.A1192T|PHKA1_ENST00000541944.1_Missense_Mutation_p.A1120T	p.A1150T			P46020	KPB1_HUMAN			32	3886	-	Renal(35;0.156)		1192					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.3448G>A	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171073	0.94807	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.97396	0.9148	M	0.88906	2.99	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.994;0.999;0.995;0.999	D	0.97673	1.0168	10	0.49607	T	0.09	-10.115	14.3055	0.66382	0.0:1.0:0.0:0.0	.	1120;1150;1179;1192	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	T	1150;1192;1120;1179;1209	ENSP00000362646:A1150T;ENSP00000362643:A1192T;ENSP00000441251:A1120T;ENSP00000342469:A1179T;ENSP00000362640:A1209T	ENSP00000342469:A1179T	A	-	1	0	PHKA1	71717675	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.400000	0.79949	1.952000	0.56665	0.538000	0.68166	GCA		0.532	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			8	15	0	0	0	1	0	8	15					T	71800950	C	T	71800950	3	4	435	1	0	0	0	0	1	0	0	0	11843	710	25	3	101	3	PHKA1	23	71800950	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	983062	71800950	83469610	9118	30043											
CDX4	1046	broad.mit.edu	37	chrX	72667140	72667140	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcatgtacccgggcacTctcatgagccctgggggcga	7	6	15	13	2	1	1	1	1	1	0	2	2	1	1	2	4	2	4	2	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:72667140T>C	ENST00000373514.2	+	1	51	c.51T>C	c.(49-51)acT>acC	p.T17T		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	17					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					ACCCGGGCACTCTCATGAGCC	0.612																																						ENST00000373514.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(49-51)acT>acC		caudal type homeobox 4							39	38	39					X																	72667140		2203	4300	6503	SO:0001819	synonymous_variant	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667140T>C	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"Homeoboxes / ANTP class : HOXL subclass"	1808	protein-coding gene	gene with protein product		300025	"caudal type homeo box transcription factor 4"			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.51T>C	X.37:g.72667140T>C							p.T17T	NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN			1	51	+	Renal(35;0.156)		17					A1A513|Q5JS20	Silent	SNP	ENST00000373514.2	37	c.51T>C	CCDS14424.1																																																																																				0.612	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		23	7	0	0	0	1	0	23	7					C	72667140	T	C	72667140	2	2	435	1	0	0	0	0	0	0	0	1	3184	1538	54	4		4	CDX4	23	72667140	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	866190	72667140	82603420	9119	30044											
KIAA2022	340533	broad.mit.edu	37	chrX	73965443	73965443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attaatcagagtgttttctcCgttggctgaggcaacaatag	11	13	10	7	1	2	2	1	1	1	1	3	2	2	2	1	2	1	4	1	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:73965443C>T	ENST00000055682.6	-	2	654	c.43G>A	c.(43-45)Gga>Aga	p.G15R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	15					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTGTTTTCTCCGTTGGCTGAG	0.363																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(43-45)Gga>Aga		KIAA2022							108	91	97					X																	73965443		2202	4299	6501	SO:0001583	missense	340533				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	g.chrX:73965443C>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.43G>A	X.37:g.73965443C>T	ENSP00000055682:p.Gly15Arg					KIAA2022_ENST00000055682.5_Missense_Mutation_p.G15R	p.G15R			Q5QGS0	K2022_HUMAN			2	694	-			15					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.43G>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135568	0.37728	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32753	1.44;1.44	5.68	5.68	0.88126	.	0.193068	0.36628	N	0.002500	T	0.37517	0.1006	N	0.22421	0.69	0.34978	D	0.753825	D	0.69078	0.997	P	0.61477	0.889	T	0.52041	-0.8628	10	0.72032	D	0.01	-9.9041	12.529	0.56104	0.0:0.7724:0.2276:0.0	.	15	Q5QGS0	K2022_HUMAN	R	15	ENSP00000362567:G15R;ENSP00000055682:G15R	ENSP00000055682:G15R	G	-	1	0	KIAA2022	73882168	0.995000	0.38212	0.947000	0.38551	0.864000	0.49448	2.718000	0.47236	2.384000	0.81235	0.594000	0.82650	GGA		0.363	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		18	3	0	0	0	1	0	18	3					T	73965443	C	T	73965443	3	4	435	1	0	0	0	0	1	0	0	0	8269	661	23	2	4519	2	KIAA2022	23	73965443	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1298303	73965443	81305117	9120	30045											
MAGEE2	139599	broad.mit.edu	37	chrX	75004665	75004665	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccccaaacgtctggactgCtcgtcgatcaggacctccag	8	7	10	16	3	2	0	1	0	1	0	5	3	3	2	4	2	2	1	4	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:75004665C>T	ENST00000373359.2	-	1	414	c.222G>A	c.(220-222)gaG>gaA	p.E74E		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	74										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTCTGGACTGCTCGTCGATCA	0.562																																						ENST00000373359.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(220-222)gaG>gaA		melanoma antigen family E, 2							40	38	39					X																	75004665		2203	4300	6503	SO:0001819	synonymous_variant	139599							g.chrX:75004665C>T	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.222G>A	X.37:g.75004665C>T							p.E74E	NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN			1	414	-			74					Q5JSI5	Silent	SNP	ENST00000373359.2	37	c.222G>A	CCDS14431.1																																																																																				0.562	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		8	27	0	0	0	1	0	8	27					T	75004665	C	T	75004665	2	4	435	1	0	0	0	0	0	0	0	1	9186	796	28	3		3	MAGEE2	23	75004665	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1039222	75004665	80265895	9121	30046											
MAGEE1	57692	broad.mit.edu	37	chrX	75649356	75649356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggagttgagcacctccgtgCcgcccactcccggtgaggga	7	6	14	14	3	0	2	0	2	0	0	2	4	2	4	5	3	2	2	5	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:75649356C>T	ENST00000361470.2	+	1	1311	c.1033C>T	c.(1033-1035)Ccg>Tcg	p.P345S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	345	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACCTCCGTGCCGCCCACTCC	0.682																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(1033-1035)Ccg>Tcg		melanoma antigen family E, 1							31	29	29					X																	75649356		2202	4298	6500	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649356C>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1033C>T	X.37:g.75649356C>T	ENSP00000354912:p.Pro345Ser						p.P345S	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	1311	+			345			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1033C>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	6.001	0.368689	0.11352	.	.	ENSG00000198934	ENST00000361470	T	0.03386	3.95	1.95	-0.0134	0.13984	.	.	.	.	.	T	0.02418	0.0074	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46289	-0.9202	9	0.33141	T	0.24	.	4.305	0.10942	0.0:0.5997:0.2339:0.1664	.	345	Q9HCI5	MAGE1_HUMAN	S	345	ENSP00000354912:P345S	ENSP00000354912:P345S	P	+	1	0	MAGEE1	75565760	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.810000	0.04505	-0.109000	0.12044	0.529000	0.55759	CCG		0.682	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		7	1	0	0	0	1	0	7	1					T	75649356	C	T	75649356	3	4	435	1	0	0	0	0	1	0	0	0	9185	739	26	3	1035	3	MAGEE1	23	75649356	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	644691	75649356	79621204	9122	30047											
ATP7A	538	broad.mit.edu	37	chrX	77301979	77301979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcactactgtctgataaacGctccctaaacagtgttgtta	11	13	6	11	1	2	1	1	1	1	0	3	1	3	1	1	0	3	3	1	0	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:77301979G>A	ENST00000341514.6	+	23	4570	c.4415G>A	c.(4414-4416)cGc>cAc	p.R1472H	ATP7A_ENST00000343533.5_Missense_Mutation_p.R1394H|ATP7A_ENST00000350425.4_Missense_Mutation_p.R475H	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1472					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TCTGATAAACGCTCCCTAAAC	0.443																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(4414-4416)cGc>cAc		ATPase, Cu++ transporting, alpha polypeptide							179	178	178					X																	77301979		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77301979G>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.4415G>A	X.37:g.77301979G>A	ENSP00000345728:p.Arg1472His					ATP7A_ENST00000343533.5_Missense_Mutation_p.R1394H|ATP7A_ENST00000350425.4_Missense_Mutation_p.R475H	p.R1472H	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			23	4570	+			1472					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.4415G>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164335	0.38217	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	T;T;T	0.48522	0.81;0.81;0.81	4.9	4.03	0.46877	.	0.436817	0.24952	N	0.034281	T	0.17704	0.0425	N	0.02011	-0.69	0.38716	D	0.953343	B	0.29835	0.258	B	0.18871	0.023	T	0.09015	-1.0694	10	0.19590	T	0.45	-8.9748	8.8793	0.35365	0.1749:0.0:0.8251:0.0	.	1472	Q04656	ATP7A_HUMAN	H	1394;475;1472	ENSP00000343026:R1394H;ENSP00000343678:R475H;ENSP00000345728:R1472H	ENSP00000345728:R1472H	R	+	2	0	ATP7A	77188635	1.000000	0.71417	0.966000	0.40874	0.987000	0.75469	3.370000	0.52372	0.874000	0.35823	0.436000	0.28706	CGC		0.443	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		96	32	0	0	0	1	0	96	32					A	77301979	G	A	77301979	3	1	435	1	0	0	0	0	1	0	0	0	1190	1087	38	1	4501	1	ATP7A	23	77301979	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1652623	77301979	77968581	9123	30048											
ZCCHC5	203430	broad.mit.edu	37	chrX	77912930	77912930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccccttggcagagttgatGgatgcactggttggcatctt	6	13	12	10	0	1	2	0	1	1	1	2	3	2	3	2	4	1	5	2	4	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:77912930G>T	ENST00000321110.1	-	2	1283	c.988C>A	c.(988-990)Cat>Aat	p.H330N		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	330							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CAGAGTTGATGGATGCACTGG	0.458																																						ENST00000321110.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(988-990)Cat>Aat		zinc finger, CCHC domain containing 5							72	59	64					X																	77912930		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912930G>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.988C>A	X.37:g.77912930G>T	ENSP00000316794:p.His330Asn						p.H330N	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	1283	-			330					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.988C>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.966048	0.00461	.	.	ENSG00000179300	ENST00000321110	T	0.16457	2.34	3.2	0.399	0.16325	.	0.983847	0.08211	U	0.980791	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.11329	0.006	T	0.41627	-0.9498	10	0.21014	T	0.42	.	3.6264	0.08114	0.1765:0.0:0.6189:0.2046	.	330	Q8N8U3	ZCHC5_HUMAN	N	330	ENSP00000316794:H330N	ENSP00000316794:H330N	H	-	1	0	ZCCHC5	77799586	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.590000	0.05760	-0.050000	0.13356	-1.240000	0.01540	CAT		0.458	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		11	6	1	0	1.08611e-07	1	1.14056e-07	11	6					T	77912930	G	T	77912930	3	4	435	1	0	0	0	0	1	0	0	0	17588	1348	47	5	443	5	ZCCHC5	23	77912930	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	610951	77912930	77357630	9124	30049											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913290	77913290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaactattagaccctccaGggactcctgggctgctgaga	10	8	10	13	0	0	2	0	1	0	2	2	4	2	3	3	2	2	2	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:77913290G>T	ENST00000321110.1	-	2	923	c.628C>A	c.(628-630)Ctg>Atg	p.L210M		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	210							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						AGACCCTCCAGGGACTCCTGG	0.527																																						ENST00000321110.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(628-630)Ctg>Atg		zinc finger, CCHC domain containing 5							35	35	35					X																	77913290		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913290G>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.628C>A	X.37:g.77913290G>T	ENSP00000316794:p.Leu210Met						p.L210M	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	923	-			210					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.628C>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743548	0.49151	.	.	ENSG00000179300	ENST00000321110	T	0.23754	1.89	3.36	2.49	0.30216	.	.	.	.	.	T	0.30792	0.0776	N	0.24115	0.695	0.09310	N	0.999995	D	0.76494	0.999	D	0.80764	0.994	T	0.07271	-1.0781	9	0.56958	D	0.05	.	4.8308	0.13439	0.2873:0.0:0.7127:0.0	.	210	Q8N8U3	ZCHC5_HUMAN	M	210	ENSP00000316794:L210M	ENSP00000316794:L210M	L	-	1	2	ZCCHC5	77799946	0.015000	0.18098	0.151000	0.22473	0.316000	0.28119	0.566000	0.23593	0.790000	0.33803	0.513000	0.50165	CTG		0.527	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		10	4	1	0	2.17888e-05	1	2.24846e-05	10	4					T	77913290	G	T	77913290	3	4	435	1	0	0	0	0	1	0	0	0	17588	991	35	5	803	5	ZCCHC5	23	77913290	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	360	77913290	77357270	9125	30050											
POU3F4	5456	broad.mit.edu	37	chrX	82764058	82764059	+	Frame_Shift_Ins	INS	-	-	A																															aaggcttgcagctgagcttcINSaaaaatatgtgcaagctgaa																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:82764058_82764059insA	ENST00000373200.2	+	1	790_791	c.726_727insA	c.(727-729)aaafs	p.K243fs	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	243	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGCTGAGCTTCAAAAATATGTG	0.584																																						ENST00000373200.2																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						c.(724-729)ttaaaafs		POU class 3 homeobox 4																																				SO:0001589	frameshift_variant	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82764058_82764059insA	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"Homeoboxes / POU class"	9217	protein-coding gene	gene with protein product	"brain-4"	300039	"POU domain class 3, transcription factor 4"	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.731dupA	X.37:g.82764063_82764063dupA	ENSP00000362296:p.Lys243fs					RP3-326L13.2_ENST00000607095.1_RNA	p.LK242fs	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN			1	790_791	+			242			POU-specific.		B2RC71|Q5H9G9|Q99410	Frame_Shift_Ins	INS	ENST00000373200.2	37	c.726_727insA	CCDS14450.1																																																																																				0.584	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		13	6						13	6	---	---	---	---	A	82764059	-	A	82764058	7	5	435	1	0	1	1	0	0	0	0	0	12277	825	29	0	728	0	POU3F4	23	82764058	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	4850768	82764058	72506502	9126	30051											
POU3F4	5456	broad.mit.edu	37	chrX	82764214	82764214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcaagggcgtactggaGacgcatttcctcaagtgtcc	9	10	12	10	2	2	1	2	0	0	1	4	2	4	1	2	2	1	2	2	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:82764214G>T	ENST00000373200.2	+	1	946	c.882G>T	c.(880-882)gaG>gaT	p.E294D	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	294					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GCGTACTGGAGACGCATTTCC	0.602																																						ENST00000373200.2																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						c.(880-882)gaG>gaT		POU class 3 homeobox 4							48	36	40					X																	82764214		2203	4300	6503	SO:0001583	missense	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82764214G>T	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"Homeoboxes / POU class"	9217	protein-coding gene	gene with protein product	"brain-4"	300039	"POU domain class 3, transcription factor 4"	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.882G>T	X.37:g.82764214G>T	ENSP00000362296:p.Glu294Asp					RP3-326L13.2_ENST00000607095.1_RNA	p.E294D	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN			1	946	+			294					B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	c.882G>T	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.221916	0.58560	.	.	ENSG00000196767	ENST00000373200	D	0.97791	-4.54	5.07	1.62	0.23740	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98554	0.9517	H	0.95470	3.675	0.54753	D	0.999987	D	0.58970	0.984	P	0.58873	0.847	D	0.97567	1.0102	10	0.87932	D	0	.	7.9031	0.29746	0.4207:0.0:0.5793:0.0	.	294	P49335	PO3F4_HUMAN	D	294	ENSP00000362296:E294D	ENSP00000362296:E294D	E	+	3	2	POU3F4	82650870	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.384000	0.34396	-0.026000	0.13895	0.525000	0.51046	GAG		0.602	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		4	1	1	0	0.00024832	1	0.000253518	4	1					T	82764214	G	T	82764214	3	4	435	1	0	0	0	0	1	0	0	0	12277	933	33	5	884	5	POU3F4	23	82764214	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	156	82764214	72506346	9127	30052											
HDX	139324	broad.mit.edu	37	chrX	83724079	83724079	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttcaattttacaaggtcGgtggcacacagaaggctttt	10	13	11	7	1	1	1	1	0	0	1	2	1	1	1	0	5	1	3	0	5	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:83724079G>A	ENST00000297977.5	-	3	763	c.652C>T	c.(652-654)Cga>Tga	p.R218*	HDX_ENST00000373177.2_Nonsense_Mutation_p.R218*|HDX_ENST00000506585.2_Nonsense_Mutation_p.R160*	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	218						nucleus (GO:0005634)	DNA binding (GO:0003677)			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						TTACAAGGTCGGTGGCACACA	0.413																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				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						c.(652-654)Cga>Tga		highly divergent homeobox							148	130	136					X																	83724079		2203	4300	6503	SO:0001587	stop_gained	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724079G>A	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.652C>T	X.37:g.83724079G>A	ENSP00000297977:p.Arg218*					HDX_ENST00000506585.2_Nonsense_Mutation_p.R160*|HDX_ENST00000373177.2_Nonsense_Mutation_p.R218*	p.R218*	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			3	763	-			218					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Nonsense_Mutation	SNP	ENST00000297977.5	37	c.652C>T	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729722	0.89390	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	.	.	.	4.92	2.0	0.26442	.	0.141151	0.47093	D	0.000249	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0582	12.6813	0.56924	0.0:0.0:0.319:0.681	.	.	.	.	X	218;160;218;160	.	ENSP00000297977:R218X	R	-	1	2	HDX	83610735	1.000000	0.71417	0.998000	0.56505	0.831000	0.47069	0.920000	0.28705	0.152000	0.19188	0.513000	0.50165	CGA		0.413	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		61	17	0	0	0	1	0	61	17					A	83724079	G	A	83724079	4	1	435	1	0	0	0	0	0	1	0	0	7026	1124	39	2	1452	2	HDX	23	83724079	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	959865	83724079	71546481	9128	30053											
CHM	1121	broad.mit.edu	37	chrX	85155679	85155679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaatctgtttttaggacaGatctatctgtaatcagcact	11	15	7	8	0	4	2	1	1	3	1	4	3	4	3	0	1	1	3	0	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:85155679G>A	ENST00000357749.2	-	11	1414	c.1385C>T	c.(1384-1386)tCt>tTt	p.S462F	CHM_ENST00000537751.1_Missense_Mutation_p.S314F|MIR361_ENST00000362181.1_RNA|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	462					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TTTTAGGACAGATCTATCTGT	0.328																																						ENST00000357749.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(1384-1386)tCt>tTt		choroideremia (Rab escort protein 1)							67	56	60					X																	85155679		2202	4300	6502	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85155679G>A	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1385C>T	X.37:g.85155679G>A	ENSP00000350386:p.Ser462Phe					CHM_ENST00000537751.1_Missense_Mutation_p.S314F|CHM_ENST00000467744.1_Intron	p.S462F	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN			11	1414	-		all_lung(315;5.41e-06)	462					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.1385C>T	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	g	10.80	1.453823	0.26161	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.85861	-2.04;-2.04	4.75	3.87	0.44632	.	0.000000	0.85682	D	0.000000	D	0.93413	0.7899	M	0.90977	3.165	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.94217	0.7464	10	0.87932	D	0	3.3148	13.7199	0.62720	0.0:0.0:0.8445:0.1555	.	462	P24386	RAE1_HUMAN	F	462;314	ENSP00000350386:S462F;ENSP00000441728:S314F	ENSP00000350386:S462F	S	-	2	0	CHM	85042335	1.000000	0.71417	0.998000	0.56505	0.201000	0.24016	5.119000	0.64679	0.885000	0.36088	-0.554000	0.04202	TCT		0.328	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		17	1	0	0	0	1	0	17	1					A	85155679	G	A	85155679	3	1	435	1	0	0	0	0	1	0	0	0	3350	942	33	3	596	3	CHM	23	85155679	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1431600	85155679	70114881	9129	30054											
DACH2	117154	broad.mit.edu	37	chrX	85769338	85769338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgttgcaggaaaatgcccGccttctgacccatgcagtcc	9	9	10	13	1	1	1	0	1	1	0	2	2	2	2	4	1	3	3	4	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:85769338G>A	ENST00000373125.4	+	3	584	c.584G>A	c.(583-585)cGc>cAc	p.R195H	DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000373131.1_Missense_Mutation_p.R182H|DACH2_ENST00000508860.1_Missense_Mutation_p.R28H	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	195					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R182H(2)|p.R195H(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GAAAATGCCCGCCTTCTGACC	0.468																																						ENST00000373131.1																			4	Substitution - Missense(4)	p.R182H(2)|p.R195H(2)	large_intestine(2)|endometrium(2)	breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(544-546)cGc>cAc		dachshund homolog 2 (Drosophila)							54	46	49					X																	85769338		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85769338G>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.584G>A	X.37:g.85769338G>A	ENSP00000362217:p.Arg195His					DACH2_ENST00000508860.1_Missense_Mutation_p.R28H|DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000373125.4_Missense_Mutation_p.R195H	p.R182H	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			2	708	+			195					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.545G>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	5.896	0.349361	0.11182	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000400297	D;D	0.83163	-1.69;-1.68	4.88	4.01	0.46588	.	0.170292	0.41194	D	0.000921	T	0.65165	0.2665	N	0.20766	0.605	0.80722	D	1	P;B;P	0.45902	0.868;0.181;0.735	B;B;B	0.34452	0.09;0.183;0.109	T	0.62053	-0.6935	10	0.12430	T	0.62	.	12.126	0.53917	0.0857:0.0:0.9143:0.0	.	61;182;195	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	H	195;182;195;28;28	ENSP00000362223:R182H;ENSP00000362217:R195H	ENSP00000345134:R195H	R	+	2	0	DACH2	85655994	0.999000	0.42202	0.992000	0.48379	0.987000	0.75469	2.924000	0.48876	0.834000	0.34852	0.506000	0.49869	CGC		0.468	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		10	6	0	0	0	1	0	10	6					A	85769338	G	A	85769338	3	1	435	1	0	0	0	0	1	0	0	0	4221	1087	38	1	594	1	DACH2	23	85769338	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	613659	85769338	69501222	9130	30055											
PABPC5	140886	broad.mit.edu	37	chrX	90690630	90690630	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagaagtatctcaaggcCgctctgtacgtgggtgactt	12	10	11	8	2	2	2	1	1	2	1	3	2	2	2	1	2	1	3	1	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:90690630C>T	ENST00000312600.3	+	2	268	c.54C>T	c.(52-54)gcC>gcT	p.A18A	PABPC5_ENST00000373105.1_Intron|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	18	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						ATCTCAAGGCCGCTCTGTACG	0.542																																						ENST00000312600.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(52-54)gcC>gcT		poly(A) binding protein, cytoplasmic 5							82	63	69					X																	90690630		2203	4300	6503	SO:0001819	synonymous_variant	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90690630C>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.54C>T	X.37:g.90690630C>T						PABPC5_ENST00000373105.1_Intron	p.A18A	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	268	+			18			RRM 1.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Silent	SNP	ENST00000312600.3	37	c.54C>T	CCDS14460.1																																																																																				0.542	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		11	3	0	0	0	1	0	11	3					T	90690630	C	T	90690630	2	4	435	1	0	0	0	0	0	0	0	1	11367	639	23	2		2	PABPC5	23	90690630	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4921292	90690630	64579930	9131	30056											
PCDH11X	27328	broad.mit.edu	37	chrX	91873427	91873427	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgccacagcccaccactgTcacaggcctctactcagcac	10	7	6	18	0	3	0	2	0	1	0	3	0	3	0	4	1	4	1	4	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:91873427T>A	ENST00000373094.1	+	7	4377	c.3532T>A	c.(3532-3534)Tca>Aca	p.S1178T	PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1160T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1170T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1141T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1141T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1168T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1178					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCCACCACTGTCACAGGCCTC	0.582																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(3532-3534)Tca>Aca		protocadherin 11 X-linked							176	141	153					X																	91873427		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873427T>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3532T>A	X.37:g.91873427T>A	ENSP00000362186:p.Ser1178Thr					PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1141T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1141T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1168T|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1160T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1170T	p.S1178T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			7	4377	+			1178					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3532T>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	T	9.749	1.167082	0.21621	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.49432	0.79;0.8;0.84;0.78;0.81;0.86	3.75	-7.5	0.01351	.	.	.	.	.	T	0.14657	0.0354	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.32161	-0.9917	9	0.05525	T	0.97	.	0.6095	0.00759	0.1731:0.2502:0.1949:0.3818	.	1141;1160;1170;1168;1178	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	T	1178;1168;1141;1160;1170;1178;1141	ENSP00000362186:S1178T;ENSP00000362189:S1168T;ENSP00000362180:S1141T;ENSP00000355105:S1160T;ENSP00000384758:S1170T;ENSP00000298274:S1141T	ENSP00000298274:S1141T	S	+	1	0	PCDH11X	91760083	0.000000	0.05858	0.002000	0.10522	0.115000	0.19883	-0.497000	0.06428	-0.931000	0.03746	-0.891000	0.02926	TCA		0.582	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		28	4	0	0	0	1	0	28	4					A	91873427	T	A	91873427	3	1	435	1	0	0	0	0	1	0	0	0	11508	1667	58	5	3680	5	PCDH11X	23	91873427	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1182797	91873427	63397133	9132	30057											
TAF7L	54457	broad.mit.edu	37	chrX	100538563	100538563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcaacaactgcatggcGcccatcagctgaagagaagt	13	8	9	11	1	2	2	2	1	0	1	2	3	2	2	1	1	5	2	1	1	5	2	rs145455495		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:100538563G>A	ENST00000372907.3	-	4	423	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	TAF7L_ENST00000356784.1_Missense_Mutation_p.R52C|TAF7L_ENST00000324762.6_Missense_Mutation_p.R52C|TAF7L_ENST00000372905.2_Missense_Mutation_p.R52C	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	138					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				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						ACTGCATGGCGCCCATCAGCT	0.398																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				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						c.(412-414)Cgc>Tgc		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa		G	CYS/ARG,CYS/ARG	1,3834		0,1,1631,571	148	146	147		154,412	3.8	0	X	dbSNP_134	147	0,6728		0,0,2428,1872	no	missense,missense	TAF7L	NM_001168474.1,NM_024885.3	180,180	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging,probably-damaging	52/377,138/463	100538563	1,10562	2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100538563G>A	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.412C>T	X.37:g.100538563G>A	ENSP00000361998:p.Arg138Cys					TAF7L_ENST00000356784.1_Missense_Mutation_p.R52C|TAF7L_ENST00000324762.6_Missense_Mutation_p.R52C|TAF7L_ENST00000372905.2_Missense_Mutation_p.R52C	p.R138C	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN			4	423	-			138					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.412C>T	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.916048	0.33815	2.61E-4	0.0	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.38560	3.65;1.13;1.13;3.65	5.66	3.85	0.44370	TAFII55 protein, conserved region (1);	0.780170	0.11273	N	0.581216	T	0.68384	0.2995	M	0.90595	3.13	0.53005	D	0.999963	D;P	0.89917	1.0;0.647	D;B	0.79784	0.993;0.111	T	0.63373	-0.6652	10	0.62326	D	0.03	-1.6297	8.3642	0.32376	0.08:0.0:0.7662:0.1538	.	138;52	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	C	138;52;52;52	ENSP00000361998:R138C;ENSP00000361996:R52C;ENSP00000320283:R52C;ENSP00000349235:R52C	ENSP00000320283:R52C	R	-	1	0	TAF7L	100425219	1.000000	0.71417	0.000000	0.03702	0.003000	0.03518	4.850000	0.62889	0.519000	0.28406	0.594000	0.82650	CGC		0.398	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			4	109	0	0	0	1	0	4	109					A	100538563	G	A	100538563	3	1	435	1	0	0	0	0	1	0	0	0	15530	1087	38	1	1016	1	TAF7L	23	100538563	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8665136	100538563	54731997	9133	30058											
ARMCX2	9823	broad.mit.edu	37	chrX	100911832	100911832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgttccaggaaccaccGctgttctaggggaaccagaa	11	8	11	11	1	1	2	0	1	1	1	2	4	2	4	4	3	2	3	4	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:100911832G>A	ENST00000328766.5	-	5	1196	c.743C>T	c.(742-744)gCg>gTg	p.A248V	ARMCX2_ENST00000356824.4_Missense_Mutation_p.A248V|ARMCX2_ENST00000330154.2_Missense_Mutation_p.A248V|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	248	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						AGGAACCACCGCTGTTCTAGG	0.607																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(742-744)gCg>gTg		armadillo repeat containing, X-linked 2							52	50	51					X																	100911832		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911832G>A	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.743C>T	X.37:g.100911832G>A	ENSP00000331662:p.Ala248Val					ARMCX2_ENST00000330154.2_Missense_Mutation_p.A248V|ARMCX2_ENST00000356824.4_Missense_Mutation_p.A248V	p.A248V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	1196	-			248			Ala-rich.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.743C>T	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	G	1.320	-0.599728	0.03744	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.32753	1.44;1.44;1.44	3.77	1.7	0.24286	.	0.422220	0.17499	N	0.172074	T	0.16471	0.0396	N	0.24115	0.695	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.21655	-1.0239	10	0.23302	T	0.38	-0.1238	5.7322	0.18047	0.3912:0.0:0.6088:0.0	.	248	Q7L311	ARMX2_HUMAN	V	248	ENSP00000331662:A248V;ENSP00000328631:A248V;ENSP00000349281:A248V	ENSP00000331662:A248V	A	-	2	0	ARMCX2	100798488	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.032000	0.13732	0.294000	0.22547	0.544000	0.68410	GCG		0.607	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		30	8	0	0	0	1	0	30	8					A	100911832	G	A	100911832	3	1	435	1	0	0	0	0	1	0	0	0	960	1087	38	1	1159	1	ARMCX2	23	100911832	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	373269	100911832	54358728	9134	30059											
ARMCX2	9823	broad.mit.edu	37	chrX	100912112	100912112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggagcccctgccattgcagGggcttctgcagccccaaggg	6	6	15	14	0	1	0	0	0	1	0	1	1	1	1	5	4	5	3	5	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:100912112G>A	ENST00000328766.5	-	5	916	c.463C>T	c.(463-465)Cct>Tct	p.P155S	ARMCX2_ENST00000356824.4_Missense_Mutation_p.P155S|ARMCX2_ENST00000330154.2_Missense_Mutation_p.P155S|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	155	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GCCATTGCAGGGGCTTCTGCA	0.642																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(463-465)Cct>Tct		armadillo repeat containing, X-linked 2							29	33	32					X																	100912112		2193	4279	6472	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100912112G>A	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.463C>T	X.37:g.100912112G>A	ENSP00000331662:p.Pro155Ser					ARMCX2_ENST00000330154.2_Missense_Mutation_p.P155S|ARMCX2_ENST00000356824.4_Missense_Mutation_p.P155S	p.P155S	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	916	-			155			Ala-rich.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.463C>T	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276449	0.23307	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824;ENST00000413506;ENST00000433318	T;T;T;T;T	0.44881	1.19;1.19;1.19;0.91;0.91	4.71	2.76	0.32466	.	0.436137	0.17119	N	0.186325	T	0.24774	0.0601	N	0.24115	0.695	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.11155	-1.0599	10	0.36615	T	0.2	-2.0659	5.5328	0.16995	0.1165:0.3278:0.5557:0.0	.	155	Q7L311	ARMX2_HUMAN	S	155	ENSP00000331662:P155S;ENSP00000328631:P155S;ENSP00000349281:P155S;ENSP00000412481:P155S;ENSP00000410151:P155S	ENSP00000331662:P155S	P	-	1	0	ARMCX2	100798768	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	-0.240000	0.08952	1.055000	0.40461	0.544000	0.68410	CCT		0.642	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		39	4	0	0	0	1	0	39	4					A	100912112	G	A	100912112	3	1	435	1	0	0	0	0	1	0	0	0	960	1232	43	3	1439	3	ARMCX2	23	100912112	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	280	100912112	54358448	9135	30060											
ARMCX5	64860	broad.mit.edu	37	chrX	101858624	101858624	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaccaaggaaaagttcactAaatctgagcttatttcaata	16	13	5	7	0	3	1	2	1	1	0	3	2	3	2	1	1	2	2	1	1	9	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:101858624A>G	ENST00000604957.1	+	1	4177	c.1555A>G	c.(1555-1557)Aaa>Gaa	p.K519E	ARMCX5_ENST00000536530.1_Missense_Mutation_p.K519E|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.K519E|ARMCX5_ENST00000541409.1_Missense_Mutation_p.K519E|ARMCX5_ENST00000537008.1_Missense_Mutation_p.K519E|ARMCX5_ENST00000246174.2_Missense_Mutation_p.K519E|RP4-769N13.6_ENST00000476910.2_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	519										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AAAGTTCACTAAATCTGAGCT	0.333																																						ENST00000604957.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1555-1557)Aaa>Gaa		armadillo repeat containing, X-linked 5							56	57	57					X																	101858624		2162	4272	6434	SO:0001583	missense	64860						binding	g.chrX:101858624A>G		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"Armadillo repeat containing"	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1555A>G	X.37:g.101858624A>G	ENSP00000474720:p.Lys519Glu					ARMCX5_ENST00000536530.1_Missense_Mutation_p.K519E|ARMCX5_ENST00000537008.1_Missense_Mutation_p.K519E|ARMCX5_ENST00000372742.1_Missense_Mutation_p.K519E|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.K519E|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.K519E	p.K519E	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN			1	4177	+			519					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.1555A>G	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.994402	0.35226	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	3.88	2.69	0.31865	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.43579	D	0.000546	T	0.30916	0.0780	N	0.20845	0.615	0.25861	N	0.983823	D	0.76494	0.999	D	0.83275	0.996	T	0.12656	-1.0539	10	0.16420	T	0.52	-12.7729	5.8165	0.18495	0.7615:0.0:0.0:0.2385	.	519	Q6P1M9	ARMX5_HUMAN	E	519	ENSP00000246174:K519E;ENSP00000439001:K519E;ENSP00000446385:K519E;ENSP00000445851:K519E;ENSP00000361827:K519E	ENSP00000246174:K519E	K	+	1	0	ARMCX5	101745280	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	3.630000	0.54273	0.650000	0.30769	0.486000	0.48141	AAA		0.333	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		36	16	0	0	0	1	0	36	16					G	101858624	A	G	101858624	3	3	435	1	0	0	0	0	1	0	0	0	962	363	13	4	1557	4	ARMCX5	23	101858624	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	946512	101858624	53411936	9136	30061											
GPRASP1	9737	broad.mit.edu	37	chrX	101912705	101912705	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccttattagctacaggCaatgccaaaacaaggtttca	13	11	6	11	0	2	0	1	0	1	0	3	0	2	0	2	2	4	3	2	2	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:101912705C>T	ENST00000361600.5	+	5	4665	c.3864C>T	c.(3862-3864)ggC>ggT	p.G1288G	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Silent_p.G1288G|GPRASP1_ENST00000444152.1_Silent_p.G1288G|GPRASP1_ENST00000415986.1_Silent_p.G1288G	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1288	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				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						TAGCTACAGGCAATGCCAAAA	0.373																																						ENST00000537097.1																			0				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						c.(3862-3864)ggC>ggT		G protein-coupled receptor associated sorting protein 1							77	65	69					X																	101912705		2203	4300	6503	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101912705C>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3864C>T	X.37:g.101912705C>T						GPRASP1_ENST00000444152.1_Silent_p.G1288G|GPRASP1_ENST00000415986.1_Silent_p.G1288G|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Silent_p.G1288G	p.G1288G	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	4677	+			1288			OPRD1-binding.		O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.3864C>T	CCDS35352.1																																																																																				0.373	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		19	20	0	0	0	1	0	19	20					T	101912705	C	T	101912705	2	4	435	1	0	0	0	0	0	0	0	1	6722	697	25	3		3	GPRASP1	23	101912705	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	54081	101912705	53357855	9137	30062											
GPRASP2	114928	broad.mit.edu	37	chrX	101969964	101969964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaaactgagaccaagtCtgtgcctgcggcaaggccca	11	5	11	14	1	1	1	0	1	1	1	1	2	1	1	4	2	3	1	4	2	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:101969964C>A	ENST00000535209.1	+	4	998	c.167C>A	c.(166-168)tCt>tAt	p.S56Y	GPRASP2_ENST00000332262.5_Missense_Mutation_p.S56Y|GPRASP2_ENST00000543253.1_Missense_Mutation_p.S56Y			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	56						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAGACCAAGTCTGTGCCTGCG	0.567																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(166-168)tCt>tAt		G protein-coupled receptor associated sorting protein 2							106	96	99					X																	101969964		2203	4300	6503	SO:0001583	missense	114928							g.chrX:101969964C>A	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.167C>A	X.37:g.101969964C>A	ENSP00000437394:p.Ser56Tyr					GPRASP2_ENST00000332262.5_Missense_Mutation_p.S56Y|GPRASP2_ENST00000535209.1_Missense_Mutation_p.S56Y	p.S56Y	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	1086	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.167C>A	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	5.026	0.190491	0.09547	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.08634	3.07;3.07;3.07	4.6	1.86	0.25419	.	0.800555	0.10613	N	0.654215	T	0.07007	0.0178	N	0.24115	0.695	0.09310	N	1	P	0.37864	0.61	B	0.38803	0.282	T	0.36114	-0.9761	10	0.66056	D	0.02	.	8.2213	0.31543	0.0:0.7111:0.0:0.2889	.	56	Q96D09	GASP2_HUMAN	Y	56	ENSP00000437872:S56Y;ENSP00000437394:S56Y;ENSP00000339057:S56Y	ENSP00000339057:S56Y	S	+	2	0	GPRASP2	101856620	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.100000	0.15231	0.125000	0.18397	-0.297000	0.09499	TCT		0.567	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		26	5	1	0	4.26978e-12	1	4.60954e-12	26	5					A	101969964	C	A	101969964	3	1	435	1	0	0	0	0	1	0	0	0	6723	913	32	5	169	5	GPRASP2	23	101969964	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	57259	101969964	53300596	9138	30063											
BHLHB9	80823	broad.mit.edu	37	chrX	102004720	102004720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtggcaacagcttgccGcccttctaggaacactcgct	7	9	10	15	2	1	0	0	0	1	0	2	1	1	1	3	2	4	3	3	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:102004720G>A	ENST00000372735.1	+	4	1382	c.797G>A	c.(796-798)cGc>cAc	p.R266H	BHLHB9_ENST00000457056.1_Missense_Mutation_p.R266H|BHLHB9_ENST00000447531.1_Missense_Mutation_p.R266H|BHLHB9_ENST00000448867.1_Missense_Mutation_p.R266H|BHLHB9_ENST00000361229.4_Missense_Mutation_p.R266H			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	266					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACAGCTTGCCGCCCTTCTAGG	0.502																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(796-798)cGc>cAc		basic helix-loop-helix domain containing, class B, 9							63	58	59					X																	102004720		2203	4300	6503	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102004720G>A	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.797G>A	X.37:g.102004720G>A	ENSP00000361820:p.Arg266His					BHLHB9_ENST00000457056.1_Missense_Mutation_p.R266H|BHLHB9_ENST00000361229.4_Missense_Mutation_p.R266H|BHLHB9_ENST00000447531.1_Missense_Mutation_p.R266H|BHLHB9_ENST00000448867.1_Missense_Mutation_p.R266H	p.R266H			Q6PI77	BHLH9_HUMAN			4	1382	+			266					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.797G>A	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	G	0.323	-0.960820	0.02249	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75	0.418	-0.836	0.10770	.	.	.	.	.	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44559	-0.9320	7	.	.	.	.	.	.	.	.	266	Q6PI77	BHLH9_HUMAN	H	266	ENSP00000403226:R266H;ENSP00000354675:R266H;ENSP00000405893:R266H;ENSP00000391722:R266H;ENSP00000361820:R266H	.	R	+	2	0	BHLHB9	101891376	0.018000	0.18449	0.001000	0.08648	0.039000	0.13416	-0.598000	0.05706	-0.735000	0.04837	-0.750000	0.03501	CGC		0.502	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		7	53	0	0	0	1	0	7	53					A	102004720	G	A	102004720	3	1	435	1	0	0	0	0	1	0	0	0	1420	1087	38	1	799	1	BHLHB9	23	102004720	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	34756	102004720	53265840	9139	30064											
COL4A6	1288	broad.mit.edu	37	chrX	107402841	107402841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatctgggtctggctgaCgggcatcatggggatagggg	7	8	20	6	1	3	1	1	1	2	0	3	3	3	3	0	8	0	2	0	8	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:107402841C>T	ENST00000372216.4	-	44	4766	c.4666G>A	c.(4666-4668)Gtc>Atc	p.V1556I	COL4A6_ENST00000538570.1_Missense_Mutation_p.V1498I|COL4A6_ENST00000334504.7_Missense_Mutation_p.V1555I|COL4A6_ENST00000394872.2_Missense_Mutation_p.V1556I|COL4A6_ENST00000418180.1_Missense_Mutation_p.V90I|COL4A6_ENST00000545689.1_Missense_Mutation_p.V1531I	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1556	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			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						GTCTGGCTGACGGGCATCATG	0.572									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000334504.7																			0				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						c.(4663-4665)Gtc>Atc		collagen, type IV, alpha 6							126	105	112					X																	107402841		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107402841C>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4666G>A	X.37:g.107402841C>T	ENSP00000361290:p.Val1556Ile					COL4A6_ENST00000545689.1_Missense_Mutation_p.V1531I|COL4A6_ENST00000418180.1_Missense_Mutation_p.V90I|COL4A6_ENST00000538570.1_Missense_Mutation_p.V1498I|COL4A6_ENST00000372216.4_Missense_Mutation_p.V1556I|COL4A6_ENST00000394872.2_Missense_Mutation_p.V1556I	p.V1555I	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN			44	4896	-			1556			Collagen IV NC1.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.4663G>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926932	0.34002	.	.	ENSG00000197565	ENST00000418180;ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.06	3.15	0.36227	C-type lectin fold (1);	0.211929	0.23762	N	0.044812	T	0.75354	0.3838	L	0.53561	1.675	0.40071	D	0.976011	B;P;B;B;B	0.41041	0.116;0.736;0.116;0.141;0.193	B;B;B;B;B	0.35182	0.008;0.197;0.014;0.014;0.016	T	0.70332	-0.4901	10	0.31617	T	0.26	.	10.373	0.44066	0.0:0.8213:0.0:0.1787	.	1531;90;1498;1556;1555	F5H851;B4DZ39;F5H3Q5;Q14031;Q14031-2	.;.;.;CO4A6_HUMAN;.	I	90;1556;1555;1556;1543;1531;1498	ENSP00000406002:V90I;ENSP00000361290:V1556I;ENSP00000334733:V1555I;ENSP00000378340:V1556I;ENSP00000443707:V1531I;ENSP00000445236:V1498I	ENSP00000334733:V1555I	V	-	1	0	COL4A6	107289497	1.000000	0.71417	0.023000	0.16930	0.982000	0.71751	4.863000	0.62983	0.505000	0.28104	0.529000	0.55759	GTC		0.572	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			29	14	0	0	0	1	0	29	14					T	107402841	C	T	107402841	3	4	435	1	0	0	0	0	1	0	0	0	3695	536	19	1	417	1	COL4A6	23	107402841	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5398121	107402841	47867719	9140	30065											
COL4A6	1288	broad.mit.edu	37	chrX	107406169	107406169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtccccagtgaggccaGggatgccatcgatccctggt	7	7	14	13	1	0	1	0	1	0	0	3	3	2	2	5	4	1	0	5	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:107406169G>T	ENST00000372216.4	-	41	4272	c.4172C>A	c.(4171-4173)cCt>cAt	p.P1391H	COL4A6_ENST00000538570.1_Missense_Mutation_p.P1333H|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1390H|COL4A6_ENST00000394872.2_Missense_Mutation_p.P1391H|COL4A6_ENST00000418180.1_5'Flank|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1366H	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1391	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			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						AGTGAGGCCAGGGATGCCATC	0.582									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000334504.7																			0				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						c.(4168-4170)cCt>cAt		collagen, type IV, alpha 6							125	124	124					X																	107406169		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107406169G>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4172C>A	X.37:g.107406169G>T	ENSP00000361290:p.Pro1391His					COL4A6_ENST00000545689.1_Missense_Mutation_p.P1366H|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1333H|COL4A6_ENST00000372216.4_Missense_Mutation_p.P1391H|COL4A6_ENST00000394872.2_Missense_Mutation_p.P1391H	p.P1390H	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN			41	4402	-			1391			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.4169C>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	8.755	0.922156	0.17982	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-3.78;-4.19	4.23	4.23	0.50019	.	0.173595	0.28088	N	0.016650	D	0.98043	0.9355	M	0.89287	3.02	0.21184	N	0.999762	D;D;D;D	0.89917	1.0;0.993;1.0;1.0	D;P;D;D	0.97110	0.996;0.8;1.0;0.996	D	0.93269	0.6650	10	0.72032	D	0.01	.	11.6002	0.50997	0.0:0.0:0.8216:0.1784	.	1366;1333;1391;1390	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	H	1391;1390;1391;1378;1366;1333	ENSP00000361290:P1391H;ENSP00000334733:P1390H;ENSP00000378340:P1391H;ENSP00000443707:P1366H;ENSP00000445236:P1333H	ENSP00000334733:P1390H	P	-	2	0	COL4A6	107292825	1.000000	0.71417	0.996000	0.52242	0.336000	0.28762	2.393000	0.44442	2.345000	0.79718	0.600000	0.82982	CCT		0.582	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			54	13	1	0	5.57489e-27	1	6.2347e-27	54	13					T	107406169	G	T	107406169	3	4	435	1	0	0	0	0	1	0	0	0	3695	1000	35	5	923	5	COL4A6	23	107406169	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3328	107406169	47864391	9141	30066											
COL4A5	1287	broad.mit.edu	37	chrX	107849988	107849988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagggtgaaccaggatttgCattacctgggccacctgggc	9	8	13	11	0	0	1	0	1	0	0	0	2	0	2	4	4	3	1	4	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:107849988C>T	ENST00000361603.2	+	29	2505	c.2261C>T	c.(2260-2262)gCa>gTa	p.A754V	COL4A5_ENST00000328300.6_Missense_Mutation_p.A754V	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	754	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			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						CCAGGATTTGCATTACCTGGG	0.493									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				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						c.(2260-2262)gCa>gTa		collagen, type IV, alpha 5							148	119	129					X																	107849988		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107849988C>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.2261C>T	X.37:g.107849988C>T	ENSP00000354505:p.Ala754Val					COL4A5_ENST00000361603.2_Missense_Mutation_p.A754V	p.A754V	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			29	2505	+			754			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.2261C>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703661	0.48412	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93366	-2.84;-3.21	5.61	2.74	0.32292	.	0.182425	0.47455	D	0.000221	D	0.86510	0.5950	N	0.14661	0.345	0.27331	N	0.956783	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.13407	0.006;0.009;0.006	T	0.71126	-0.4683	10	0.30078	T	0.28	.	15.7262	0.77763	0.0:0.3909:0.6091:0.0	.	754;362;754	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	V	754	ENSP00000331902:A754V;ENSP00000354505:A754V	ENSP00000331902:A754V	A	+	2	0	COL4A5	107736644	1.000000	0.71417	0.490000	0.27465	0.793000	0.44817	4.388000	0.59633	0.137000	0.18759	-0.216000	0.12614	GCA		0.493	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			38	7	0	0	0	1	0	38	7					T	107849988	C	T	107849988	3	4	435	1	0	0	0	0	1	0	0	0	3694	710	25	3	2375	3	COL4A5	23	107849988	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	443819	107849988	47420572	9142	30067											
RGAG1	57529	broad.mit.edu	37	chrX	109696269	109696269	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctggagagatagccacGcctctgagatccccagctta	9	9	10	13	1	2	2	0	1	2	2	3	5	3	3	4	1	2	2	4	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:109696269G>A	ENST00000465301.2	+	3	2670	c.2424G>A	c.(2422-2424)acG>acA	p.T808T	RGAG1_ENST00000540313.1_Silent_p.T808T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	808										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGATAGCCACGCCTCTGAGAT	0.542																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(2422-2424)acG>acA		retrotransposon gag domain containing 1							97	92	94					X																	109696269		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109696269G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2424G>A	X.37:g.109696269G>A						RGAG1_ENST00000540313.1_Silent_p.T808T	p.T808T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	2670	+			808					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.2424G>A	CCDS14552.1																																																																																				0.542	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		46	6	0	0	0	1	0	46	6					A	109696269	G	A	109696269	2	1	435	1	0	0	0	0	0	0	0	1	13274	1074	38	1		1	RGAG1	23	109696269	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1846281	109696269	45574291	9143	30068											
PAK3	5063	broad.mit.edu	37	chrX	110439716	110439716	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcactcctgagcaaagtaaaCgaagcactatggtgggaacc	14	7	10	10	1	1	1	1	1	0	0	2	3	2	2	2	2	4	3	2	2	6	2	rs121434611		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:110439716C>T	ENST00000372010.1	+	17	1742	c.1300C>T	c.(1300-1302)Cga>Tga	p.R434*	PAK3_ENST00000360648.4_Nonsense_Mutation_p.R455*|PAK3_ENST00000446737.1_Nonsense_Mutation_p.R419*|PAK3_ENST00000372007.5_Nonsense_Mutation_p.R419*|PAK3_ENST00000417227.1_Nonsense_Mutation_p.R440*|PAK3_ENST00000425146.1_Nonsense_Mutation_p.R419*|PAK3_ENST00000519681.1_Nonsense_Mutation_p.R440*|PAK3_ENST00000262836.4_Nonsense_Mutation_p.R434*|PAK3_ENST00000518291.1_Nonsense_Mutation_p.R455*			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	434	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R419*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GCAAAGTAAACGAAGCACTAT	0.433										TSP Lung(19;0.15)																												ENST00000519681.1																			1	Substitution - Nonsense(1)	p.R419*(1)	urinary_tract(1)	breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41	GRCh37	CM981458	PAK3	M	rs121434611	c.(1318-1320)Cga>Tga		p21 protein (Cdc42/Rac)-activated kinase 3							133	128	130					X																	110439716		2203	4300	6503	SO:0001587	stop_gained	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110439716C>T	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.1300C>T	X.37:g.110439716C>T	ENSP00000361080:p.Arg434*	TSP Lung(19;0.15)				PAK3_ENST00000360648.4_Nonsense_Mutation_p.R455*|PAK3_ENST00000417227.1_Nonsense_Mutation_p.R440*|PAK3_ENST00000262836.4_Nonsense_Mutation_p.R434*|PAK3_ENST00000425146.1_Nonsense_Mutation_p.R419*|PAK3_ENST00000372007.4_Nonsense_Mutation_p.R419*|PAK3_ENST00000446737.1_Nonsense_Mutation_p.R419*|PAK3_ENST00000372010.1_Nonsense_Mutation_p.R434*|PAK3_ENST00000518291.1_Nonsense_Mutation_p.R455*	p.R440*			O75914	PAK3_HUMAN			17	1760	+			434		T -> S (in a colorectal adenocarcinoma sample; somatic mutation).	Protein kinase.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Nonsense_Mutation	SNP	ENST00000372010.1	37	c.1318C>T	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	C	42	9.295059	0.99128	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	.	.	.	5.37	4.46	0.54185	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3491	0.66688	0.2484:0.7516:0.0:0.0	.	.	.	.	X	419;419;434;440;419;455;455;440;434	.	ENSP00000262836:R434X	R	+	1	2	PAK3	110326372	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.659000	0.54489	2.373000	0.80994	0.594000	0.82650	CGA		0.433	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		29	9	0	0	0	1	0	29	9					T	110439716	C	T	110439716	4	4	435	1	0	0	0	0	0	1	0	0	11402	528	19	1	1417	1	PAK3	23	110439716	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	743447	110439716	44830844	9144	30069											
AMOT	154796	broad.mit.edu	37	chrX	112034009	112034009	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgacagttgccctgaCgctgttggggcagatgcaga	7	9	16	9	1	0	4	0	2	0	2	0	4	0	4	1	3	2	6	1	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:112034009C>T	ENST00000524145.1	-	8	2002	c.1928G>A	c.(1927-1929)cGt>cAt	p.R643H	AMOT_ENST00000304758.1_Splice_Site_p.R234H|AMOT_ENST00000371959.3_Splice_Site_p.R643H|AMOT_ENST00000371962.1_Splice_Site_p.R411H|AMOT_ENST00000371958.1_Splice_Site_p.R411H			Q4VCS5	AMOT_HUMAN	angiomotin	643					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.R643H(1)|p.R234H(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						GTTGCCCTGACGCTGTTGGGG	0.527																																						ENST00000371959.3																			2	Substitution - Missense(2)	p.R643H(1)|p.R234H(1)	large_intestine(2)	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						c.e7-1		angiomotin							88	77	81					X																	112034009		2203	4300	6503	SO:0001630	splice_region_variant	154796				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	g.chrX:112034009C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1927-1G>A	X.37:g.112034009C>T						AMOT_ENST00000371962.1_Splice_Site_p.R411_splice|AMOT_ENST00000524145.1_Splice_Site_p.R643_splice|AMOT_ENST00000371958.1_Splice_Site_p.R411_splice|AMOT_ENST00000304758.1_Splice_Site_p.R234_splice	p.R643_splice	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			7	1927	-			643					Q504X5|Q9HD27|Q9UPT1	Splice_Site	SNP	ENST00000524145.1	37	c.1926_splice	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074599	0.76415	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.41400	1.0;2.02;2.28;2.02;1.73	6.08	6.08	0.98989	Angiomotin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65508	-0.6151	10	0.52906	T	0.07	-10.6765	18.3623	0.90379	0.0:1.0:0.0:0.0	.	643	Q4VCS5	AMOT_HUMAN	H	234;643;411;643;411	ENSP00000305557:R234H;ENSP00000361027:R643H;ENSP00000361030:R411H;ENSP00000429013:R643H;ENSP00000361026:R411H	ENSP00000305557:R234H	R	-	2	0	AMOT	111920665	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	7.607000	0.82883	2.562000	0.86427	0.600000	0.82982	CGT		0.527	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265	Missense_Mutation	25	1	0	0	0	1	0	25	1					T	112034009	C	T	112034009	5	4	435	1	0	0	0	0	0	0	1	0	582	550	19	1	1346	1	AMOT	23	112034009	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1594293	112034009	43236551	9145	30070											
CXorf61	203413	broad.mit.edu	37	chrX	115593953	115593953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccattacctgaaagcggCgatatttccagaagacaatc	14	9	7	11	2	1	3	1	1	0	2	3	4	2	3	3	1	2	0	3	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:115593953C>T	ENST00000371894.4	-	1	211	c.65G>A	c.(64-66)cGc>cAc	p.R22H		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN		22						integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(8)	12						CTGAAAGCGGCGATATTTCCA	0.428																																						ENST00000371894.4																			0				breast(1)|large_intestine(3)|lung(8)	12						c.(64-66)cGc>cAc		chromosome X open reading frame 61							181	149	160					X																	115593953		2203	4300	6503	SO:0001583	missense	203413					integral to membrane|plasma membrane		g.chrX:115593953C>T																												ENST00000371894.4:c.65G>A	X.37:g.115593953C>T	ENSP00000360961:p.Arg22His						p.R22H	NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN			1	211	-			22						Missense_Mutation	SNP	ENST00000371894.4	37	c.65G>A	CCDS35372.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869118	0.32977	.	.	ENSG00000204019	ENST00000371894	.	.	.	3.22	-3.62	0.04543	.	1.861960	0.03297	N	0.188483	T	0.18299	0.0439	N	0.14661	0.345	0.09310	N	1	B	0.28636	0.218	B	0.15484	0.013	T	0.09079	-1.0691	9	0.56958	D	0.05	.	3.2039	0.06658	0.3978:0.2791:0.0:0.3231	.	22	Q5H943	KKLC1_HUMAN	H	22	.	ENSP00000360961:R22H	R	-	2	0	CXorf61	115507981	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.205000	0.17356	-1.215000	0.02610	0.534000	0.68092	CGC		0.428	CXorf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057985.1			28	2	0	0	0	1	0	28	2					T	115593953	C	T	115593953	3	4	435	1	0	0	0	0	1	0	0	0	4116	768	27	1	284	1	CXorf61	23	115593953	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3559944	115593953	39676607	9146	30071											
DOCK11	139818	broad.mit.edu	37	chrX	117788703	117788703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagcttagccaagtcctatGcaagcaccccagagctcagg	12	7	9	13	0	1	1	1	0	0	1	2	1	2	1	4	1	5	4	4	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:117788703G>A	ENST00000276202.7	+	43	4897	c.4834G>A	c.(4834-4836)Gca>Aca	p.A1612T	DOCK11_ENST00000276204.6_Missense_Mutation_p.A1612T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1612	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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						CAAGTCCTATGCAAGCACCCC	0.433																																						ENST00000276204.6																			0				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						c.(4834-4836)Gca>Aca		dedicator of cytokinesis 11							94	86	89					X																	117788703		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117788703G>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4834G>A	X.37:g.117788703G>A	ENSP00000276202:p.Ala1612Thr					DOCK11_ENST00000276202.7_Missense_Mutation_p.A1612T	p.A1612T			Q5JSL3	DOC11_HUMAN			43	4908	+			1612			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.4834G>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095940	0.56075	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.18657	2.2;2.2	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	M	0.86343	2.81	0.58432	D	0.999998	B;B	0.14012	0.009;0.009	B;B	0.25759	0.063;0.063	T	0.31943	-0.9925	10	0.48119	T	0.1	-11.9222	17.5152	0.87771	0.0:0.0:1.0:0.0	.	1612;1612	A6NIW2;Q5JSL3	.;DOC11_HUMAN	T	1612	ENSP00000276204:A1612T;ENSP00000276202:A1612T	ENSP00000276202:A1612T	A	+	1	0	DOCK11	117672731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.949000	0.63596	2.062000	0.61559	0.600000	0.82982	GCA		0.433	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		41	5	0	0	0	1	0	41	5					A	117788703	G	A	117788703	3	1	435	1	0	0	0	0	1	0	0	0	4686	1319	46	3	5004	3	DOCK11	23	117788703	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2194750	117788703	37481857	9147	30072											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959424	117959424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccaagtcaatggcgtcctgCcagattggaatatgtctgag	10	10	11	10	1	2	2	1	1	1	1	3	3	3	3	3	2	1	0	3	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:117959424C>T	ENST00000310164.2	+	4	724	c.217C>T	c.(217-219)Cca>Tca	p.P73S		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	73					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						tggcgtcctgccagattggaa	0.552																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(217-219)Cca>Tca		zinc finger, CCHC domain containing 12							72	73	73					X																	117959424		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959424C>T	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	27273	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7A"	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.217C>T	X.37:g.117959424C>T	ENSP00000308921:p.Pro73Ser						p.P73S	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	724	+			73					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.217C>T	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771781	0.49680	.	.	ENSG00000174460	ENST00000310164	T	0.08720	3.06	3.09	3.09	0.35607	.	0.000000	0.32593	N	0.005897	T	0.23727	0.0574	M	0.80028	2.48	0.31354	N	0.682197	D	0.89917	1.0	D	0.87578	0.998	T	0.08680	-1.0710	10	0.18276	T	0.48	-9.098	8.7855	0.34818	0.0:1.0:0.0:0.0	.	73	Q6PEW1	ZCH12_HUMAN	S	73	ENSP00000308921:P73S	ENSP00000308921:P73S	P	+	1	0	ZCCHC12	117843452	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	2.978000	0.49305	1.801000	0.52704	0.594000	0.82650	CCA		0.552	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		26	5	0	0	0	1	0	26	5					T	117959424	C	T	117959424	3	4	435	1	0	0	0	0	1	0	0	0	17578	739	26	3	219	3	ZCCHC12	23	117959424	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	170721	117959424	37311136	9148	30073											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959682	117959682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagaggtgcagctccagaacGctattcaggcaggcattata	12	9	11	9	1	1	2	1	0	0	2	2	2	2	2	1	3	3	5	1	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:117959682G>A	ENST00000310164.2	+	4	982	c.475G>A	c.(475-477)Gct>Act	p.A159T		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	159					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						gctccagaacgctattcaggc	0.502																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(475-477)Gct>Act		zinc finger, CCHC domain containing 12							107	107	107					X																	117959682		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959682G>A	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	27273	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7A"	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.475G>A	X.37:g.117959682G>A	ENSP00000308921:p.Ala159Thr						p.A159T	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	982	+			159					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.475G>A	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390033	0.61956	.	.	ENSG00000174460	ENST00000310164	T	0.12147	2.71	3.09	3.09	0.35607	.	0.000000	0.36167	N	0.002753	T	0.37839	0.1018	M	0.87900	2.915	0.30442	N	0.776083	D	0.89917	1.0	D	0.87578	0.998	T	0.36672	-0.9738	10	0.72032	D	0.01	-13.7532	8.7855	0.34818	0.0:0.0:1.0:0.0	.	159	Q6PEW1	ZCH12_HUMAN	T	159	ENSP00000308921:A159T	ENSP00000308921:A159T	A	+	1	0	ZCCHC12	117843710	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	3.765000	0.55272	1.801000	0.52704	0.594000	0.82650	GCT		0.502	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		23	38	0	0	0	1	0	23	38					A	117959682	G	A	117959682	3	1	435	1	0	0	0	0	1	0	0	0	17578	1087	38	1	477	1	ZCCHC12	23	117959682	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	258	117959682	37310878	9149	30074											
KIAA1210	57481	broad.mit.edu	37	chrX	118221659	118221659	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttagaagtgccttcaacAgccattttctctagtcgtga	9	15	8	9	1	2	2	1	1	1	1	4	2	2	2	2	0	3	1	2	0	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:118221659A>G	ENST00000402510.2	-	11	3533	c.3534T>C	c.(3532-3534)gcT>gcC	p.A1178A		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1178										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGCCTTCAACAGCCATTTTCT	0.458																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(3532-3534)gcT>gcC		KIAA1210							62	55	57					X																	118221659		1859	4097	5956	SO:0001819	synonymous_variant	57481							g.chrX:118221659A>G	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3534T>C	X.37:g.118221659A>G							p.A1178A	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			11	3533	-			1178					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.3534T>C	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	A	4.997	0.185139	0.09495	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.43	-4.73	0.03259	.	.	.	.	.	T	0.15696	0.0378	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23762	-1.0179	4	.	.	.	.	0.2682	0.00227	0.2411:0.2875:0.187:0.2845	.	.	.	.	R	585	.	.	C	-	1	0	KIAA1210	118105687	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.031000	0.13710	-1.095000	0.03050	0.486000	0.48141	TGT		0.458	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		11	3	0	0	0	1	0	11	3					G	118221659	A	G	118221659	2	3	435	1	0	0	0	0	0	0	0	1	8214	175	7	4		4	KIAA1210	23	118221659	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	261977	118221659	37048901	9150	30075											
CXorf56	63932	broad.mit.edu	37	chrX	118676491	118676491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaatctcctcttcctcttCatcaatggtagacacggtga	9	13	6	13	1	6	2	3	1	3	1	8	2	7	2	2	2	0	1	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:118676491C>T	ENST00000371594.4	-	5	568	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	CXorf56_ENST00000469448.1_5'UTR|CXorf56_ENST00000320339.4_Missense_Mutation_p.E115K|CXorf56_ENST00000536133.1_Missense_Mutation_p.E150K	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	164										cervix(1)|endometrium(2)|lung(7)	10						TCTTCCTCTTCATCAATGGTA	0.507																																						ENST00000320339.4																			0				cervix(1)|endometrium(2)|lung(7)	10						c.(343-345)Gaa>Aaa		chromosome X open reading frame 56							226	148	174					X																	118676491		2203	4300	6503	SO:0001583	missense	63932						protein binding	g.chrX:118676491C>T	AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.490G>A	X.37:g.118676491C>T	ENSP00000360652:p.Glu164Lys					CXorf56_ENST00000476164.1_Missense_Mutation_p.E164K|CXorf56_ENST00000486230.1_Missense_Mutation_p.E164K|CXorf56_ENST00000536133.1_Missense_Mutation_p.E150K|CXorf56_ENST00000371594.4_Missense_Mutation_p.E164K|CXorf56_ENST00000469448.1_5'UTR	p.E115K	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN			5	614	-			164					A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Missense_Mutation	SNP	ENST00000371594.4	37	c.343G>A	CCDS14579.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901967	0.92035	.	.	ENSG00000018610	ENST00000486230;ENST00000320339;ENST00000371594;ENST00000536133;ENST00000476164	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.62656	-0.6808	10	0.87932	D	0	-22.3354	16.4401	0.83898	0.0:1.0:0.0:0.0	.	150;164	F5GWL7;Q9H5V9	.;CX056_HUMAN	K	164;115;164;150;164	ENSP00000420787:E164K;ENSP00000320345:E115K;ENSP00000360652:E164K;ENSP00000441786:E150K;ENSP00000420635:E164K	ENSP00000320345:E115K	E	-	1	0	CXorf56	118560519	1.000000	0.71417	0.996000	0.52242	0.847000	0.48162	6.936000	0.75892	2.081000	0.62600	0.544000	0.68410	GAA		0.507	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022101		41	6	0	0	0	1	0	41	6					T	118676491	C	T	118676491	3	4	435	1	0	0	0	0	1	0	0	0	4112	835	29	3	190	3	CXorf56	23	118676491	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	454832	118676491	36594069	9151	30076											
AKAP14	158798	broad.mit.edu	37	chrX	119048759	119048759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctactatgtacactggaGtatctcaactgctgacctac	11	12	6	12	0	2	1	1	1	2	0	3	2	2	2	1	1	5	3	1	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:119048759G>A	ENST00000371431.3	+	5	633	c.359G>A	c.(358-360)aGt>aAt	p.S120N	AKAP14_ENST00000334356.2_Intron|AKAP14_ENST00000371423.2_Intron|AKAP14_ENST00000371425.4_Intron	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	120					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				endometrium(4)|large_intestine(1)|lung(8)	13						GTACACTGGAGTATCTCAACT	0.438																																						ENST00000371431.3																			0				endometrium(4)|large_intestine(1)|lung(8)	13						c.(358-360)aGt>aAt		A kinase (PRKA) anchor protein 14							232	188	203					X																	119048759		2203	4300	6503	SO:0001583	missense	158798					cytoplasm		g.chrX:119048759G>A	AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"A-kinase anchor proteins"	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.359G>A	X.37:g.119048759G>A	ENSP00000360485:p.Ser120Asn					AKAP14_ENST00000371425.4_Intron|AKAP14_ENST00000334356.2_Intron|AKAP14_ENST00000371423.2_Intron	p.S120N	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN			5	633	+			120					A6NNZ0|Q86UN4|Q86UN5	Missense_Mutation	SNP	ENST00000371431.3	37	c.359G>A	CCDS14591.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713500	0.48517	.	.	ENSG00000186471	ENST00000371431	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.77890	0.4198	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80679	-0.1275	9	0.66056	D	0.02	-19.5371	13.8613	0.63561	0.0:0.0:1.0:0.0	.	120	Q86UN6	AKA28_HUMAN	N	120	.	ENSP00000360485:S120N	S	+	2	0	AKAP14	118932787	1.000000	0.71417	0.907000	0.35723	0.015000	0.08874	4.589000	0.61006	2.093000	0.63338	0.600000	0.82982	AGT		0.438	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058078.1	NM_178813		4	79	0	0	0	1	0	4	79					A	119048759	G	A	119048759	3	1	435	1	0	0	0	0	1	0	0	0	450	1029	36	3	378	3	AKAP14	23	119048759	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	372268	119048759	36221801	9152	30077											
NKAP	79576	broad.mit.edu	37	chrX	119064005	119064005	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactcattacataacctgaGcattcaaatgatgcaatttc	14	12	4	11	0	2	2	2	2	0	0	3	2	2	2	2	0	4	2	2	0	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:119064005G>A	ENST00000371410.3	-	8	1213	c.1047C>T	c.(1045-1047)tgC>tgT	p.C349C	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	349	Necessary for interaction with HDAC3 and transcriptional repression.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CATAACCTGAGCATTCAAATG	0.368																																						ENST00000371410.3																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						c.(1045-1047)tgC>tgT		NFKB activating protein							179	157	164					X																	119064005		2203	4300	6503	SO:0001819	synonymous_variant	79576				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	g.chrX:119064005G>A	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"NF kappaB activating protein"	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.1047C>T	X.37:g.119064005G>A						NKAP_ENST00000477789.1_5'UTR	p.C349C	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN			8	1213	-			349			Necessary for interaction with HDAC3 and transcriptional repression.		Q6IPW6|Q96BQ2|Q9H638	Silent	SNP	ENST00000371410.3	37	c.1047C>T	CCDS14592.1																																																																																				0.368	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		33	5	0	0	0	1	0	33	5					A	119064005	G	A	119064005	2	1	435	1	0	0	0	0	0	0	0	1	10439	963	34	3		3	NKAP	23	119064005	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15246	119064005	36206555	9153	30078											
CUL4B	8450	broad.mit.edu	37	chrX	119694003	119694003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttagcaaagctagagacgGtggtagaagatttggctagg	12	10	15	4	1	0	3	0	0	0	3	0	4	0	3	0	4	2	5	0	4	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:119694003G>A	ENST00000404115.3	-	3	946	c.545C>T	c.(544-546)aCc>aTc	p.T182I	CUL4B_ENST00000371322.5_Missense_Mutation_p.T164I|CUL4B_ENST00000336592.6_Missense_Mutation_p.T169I	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	182	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCTAGAGACGGTGGTAGAAGA	0.418																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(490-492)aCc>aTc		cullin 4B							127	117	120					X																	119694003		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694003G>A	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.545C>T	X.37:g.119694003G>A	ENSP00000384109:p.Thr182Ile					CUL4B_ENST00000336592.6_Missense_Mutation_p.T169I|CUL4B_ENST00000404115.3_Missense_Mutation_p.T182I	p.T164I	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	552	-			182			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.491C>T	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498312	0.26861	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.68903	-0.36;-0.36;-0.36	5.53	5.53	0.82687	.	0.491224	0.23472	N	0.047817	T	0.59183	0.2175	L	0.40543	1.245	0.30121	N	0.805714	B;B	0.10296	0.002;0.003	B;B	0.09377	0.003;0.004	T	0.53099	-0.8486	9	.	.	.	-2.2138	17.3869	0.87418	0.0:0.0:1.0:0.0	.	182;164	Q13620;Q13620-1	CUL4B_HUMAN;.	I	164;169;182	ENSP00000360373:T164I;ENSP00000338919:T169I;ENSP00000384109:T182I	.	T	-	2	0	CUL4B	119578031	1.000000	0.71417	0.987000	0.45799	0.661000	0.39034	5.308000	0.65768	2.319000	0.78375	0.529000	0.55759	ACC		0.418	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		32	7	0	0	0	1	0	32	7					A	119694003	G	A	119694003	3	1	435	1	0	0	0	0	1	0	0	0	4058	1261	44	3	2276	3	CUL4B	23	119694003	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	629998	119694003	35576557	9154	30079											
CT47B1	643311	broad.mit.edu	37	chrX	120009362	120009362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggccttccacgggccctgCgactccgaccacctcggccg	5	5	12	19	5	0	0	0	0	0	0	3	3	2	0	7	3	1	0	7	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:120009362C>T	ENST00000371311.3	-	1	417	c.163G>A	c.(163-165)Gca>Aca	p.A55T		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	55										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ACGGGCCCTGCGACTCCGACC	0.741																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(163-165)Gca>Aca		cancer/testis antigen family 47, member B1							3	6	5					X																	120009362		638	1441	2079	SO:0001583	missense	643311							g.chrX:120009362C>T		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.163G>A	X.37:g.120009362C>T	ENSP00000360360:p.Ala55Thr						p.A55T	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	417	-			55					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.163G>A	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545968	0.27652	.	.	ENSG00000236446	ENST00000371311	.	.	.	2.03	-4.07	0.03975	.	1.198590	0.06571	N	0.748581	T	0.36963	0.0986	N	0.19112	0.55	0.09310	N	1	D	0.71674	0.998	D	0.74023	0.982	T	0.32719	-0.9896	9	0.44086	T	0.13	.	4.839	0.13478	0.0:0.2044:0.1814:0.6142	.	55	P0C2W7	CT47B_HUMAN	T	55	.	ENSP00000360360:A55T	A	-	1	0	CT47B1	119893390	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-1.599000	0.02085	-1.575000	0.01655	0.171000	0.16805	GCA		0.741	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		31	7	0	0	0	1	0	31	7					T	120009362	C	T	120009362	3	4	435	1	0	0	0	0	1	0	0	0	3989	768	27	1	744	1	CT47B1	23	120009362	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	315359	120009362	35261198	9155	30080											
THOC2	57187	broad.mit.edu	37	chrX	122761551	122761551	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaaacctaccatttccTgattgtcatcaattgctttc	13	14	3	11	0	2	1	2	1	0	0	4	1	3	1	3	0	4	1	3	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:122761551T>C	ENST00000245838.8	-	23	2781	c.2750A>G	c.(2749-2751)cAg>cGg	p.Q917R	THOC2_ENST00000491737.1_Missense_Mutation_p.Q802R|THOC2_ENST00000355725.4_Missense_Mutation_p.Q917R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	917					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TACCATTTCCTGATTGTCATC	0.343																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(2749-2751)cAg>cGg		THO complex 2							165	135	144					X																	122761551		1877	4097	5974	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122761551T>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2750A>G	X.37:g.122761551T>C	ENSP00000245838:p.Gln917Arg					THOC2_ENST00000491737.1_Missense_Mutation_p.Q802R|THOC2_ENST00000355725.4_Missense_Mutation_p.Q917R	p.Q917R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			23	2781	-			917					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.2750A>G	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	T	12.39	1.923880	0.34002	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	T;T;T	0.46819	0.86;0.86;0.86	5.73	5.73	0.89815	THO complex, subunitTHOC2, C-terminal (1);	0.187686	0.37393	N	0.002113	T	0.10594	0.0259	N	0.00045	-2.445	0.34381	D	0.693073	B;B	0.06786	0.001;0.001	B;B	0.17098	0.004;0.017	T	0.25433	-1.0132	10	0.08599	T	0.76	-10.3962	10.4581	0.44563	0.1472:0.0:0.0:0.8528	.	842;917	B4DKZ6;Q8NI27	.;THOC2_HUMAN	R	917;917;802;842	ENSP00000245838:Q917R;ENSP00000347959:Q917R;ENSP00000419795:Q802R	ENSP00000245838:Q917R	Q	-	2	0	THOC2	122589232	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.960000	0.63673	2.036000	0.60181	0.486000	0.48141	CAG		0.343	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			23	11	0	0	0	1	0	23	11					C	122761551	T	C	122761551	3	2	435	1	0	0	0	0	1	0	0	0	15862	1580	55	4	2095	4	THOC2	23	122761551	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	2752189	122761551	32509009	9156	30081											
ODZ1	10178	broad.mit.edu	37	chrX	123514535	123514535	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcttttccccttctgTccatgccctaatcccctctt	3	16	4	18	0	2	0	0	0	2	0	5	0	5	0	6	0	3	2	6	0	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:123514535T>C	ENST00000371130.3	-	31	8092	c.8029A>G	c.(8029-8031)Aca>Gca	p.T2677A	TENM1_ENST00000422452.2_Missense_Mutation_p.T2684A|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2677					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCCCCTTCTGTCCATGCCCTA	0.512																																						ENST00000422452.2																			0											c.(8050-8052)Aca>Gca		teneurin transmembrane protein 1							179	168	172					X																	123514535		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123514535T>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.8029A>G	X.37:g.123514535T>C	ENSP00000360171:p.Thr2677Ala					STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.T2677A	p.T2684A	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					32	8113	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.8050A>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887952	0.72410	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87571	-2.27;-2.23	5.73	5.73	0.89815	.	0.047536	0.85682	D	0.000000	D	0.88610	0.6483	M	0.64080	1.96	0.80722	D	1	P;P;D	0.55172	0.702;0.807;0.97	B;B;P	0.48815	0.12;0.294;0.591	D	0.89626	0.3852	10	0.66056	D	0.02	.	15.0184	0.71605	0.0:0.0:0.0:1.0	.	2683;2684;2677	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	A	2677;2684	ENSP00000360171:T2677A;ENSP00000403954:T2684A	ENSP00000360171:T2677A	T	-	1	0	ODZ1	123342216	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	1.929000	0.55896	0.437000	0.28790	ACA		0.512	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		56	18	0	0	0	1	0	56	18					C	123514535	T	C	123514535	3	2	435	1	0	0	0	0	1	0	0	0	10834	1667	58	4	152	4	ODZ1	23	123514535	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	752984	123514535	31756025	9157	30082											
ODZ1	10178	broad.mit.edu	37	chrX	123514607	123514607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcctgggccactgcgcGctgtctggcaatctccaaca	7	7	11	16	2	2	0	0	0	2	0	3	0	2	0	4	3	2	2	4	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:123514607G>A	ENST00000371130.3	-	31	8020	c.7957C>T	c.(7957-7959)Cgc>Tgc	p.R2653C	TENM1_ENST00000422452.2_Missense_Mutation_p.R2660C|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2653					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCCACTGCGCGCTGTCTGGCA	0.537																																						ENST00000422452.2																			0											c.(7978-7980)Cgc>Tgc		teneurin transmembrane protein 1							124	113	116					X																	123514607		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123514607G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7957C>T	X.37:g.123514607G>A	ENSP00000360171:p.Arg2653Cys					STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.R2653C	p.R2660C	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					32	8041	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7978C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354090	0.24512	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87334	-2.24;-2.2	5.73	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.92753	0.7696	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.996;0.998	D	0.93381	0.6743	10	0.87932	D	0	.	13.0788	0.59100	0.0:0.0:0.6831:0.3169	.	2659;2660;2653	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	C	2653;2660	ENSP00000360171:R2653C;ENSP00000403954:R2660C	ENSP00000360171:R2653C	R	-	1	0	ODZ1	123342288	1.000000	0.71417	0.427000	0.26684	0.185000	0.23345	3.054000	0.49908	2.414000	0.81942	0.538000	0.68166	CGC		0.537	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		28	13	0	0	0	1	0	28	13					A	123514607	G	A	123514607	3	1	435	1	0	0	0	0	1	0	0	0	10834	1087	38	1	224	1	ODZ1	23	123514607	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	72	123514607	31755953	9158	30083											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685777	125685777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcccagttcctggttcttgCcgccgcaggccagggcccgc	3	8	12	18	3	1	0	0	0	1	0	3	0	3	0	6	3	1	3	6	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:125685777C>T	ENST00000371126.1	-	1	1057	c.815G>A	c.(814-816)gGc>gAc	p.G272D		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	272										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGGTTCTTGCCGCCGCAGGC	0.642																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(814-816)gGc>gAc		DDB1 and CUL4 associated factor 12-like 1							43	43	43					X																	125685777		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685777C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.815G>A	X.37:g.125685777C>T	ENSP00000360167:p.Gly272Asp						p.G272D	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	1057	-			272					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.815G>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.950845	0.00475	.	.	ENSG00000198889	ENST00000371126	T	0.62788	0.0	3.54	-3.0	0.05480	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.671673	0.12369	N	0.474933	T	0.50309	0.1608	L	0.54323	1.7	0.19575	N	0.999968	B	0.10296	0.003	B	0.10450	0.005	T	0.34800	-0.9814	10	0.54805	T	0.06	.	5.9439	0.19207	0.0:0.3273:0.3807:0.292	.	272	Q5VU92	DC121_HUMAN	D	272	ENSP00000360167:G272D	ENSP00000360167:G272D	G	-	2	0	DCAF12L1	125513458	0.715000	0.27946	0.000000	0.03702	0.073000	0.16967	0.856000	0.27818	-1.474000	0.01879	-2.167000	0.00324	GGC		0.642	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		11	5	0	0	0	1	0	11	5					T	125685777	C	T	125685777	3	4	435	1	0	0	0	0	1	0	0	0	4264	739	26	3	580	3	DCAF12L1	23	125685777	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2171170	125685777	29584783	9159	30084											
XPNPEP2	7512	broad.mit.edu	37	chrX	128896711	128896711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaatttgggatccgtctcGaagatgtggctctcgtggta	8	12	14	7	3	2	2	0	0	2	2	5	5	3	3	1	3	0	2	1	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:128896711G>A	ENST00000371106.3	+	19	1897	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	569						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GATCCGTCTCGAAGATGTGGC	0.547																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(1705-1707)Gaa>Aaa		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							115	98	103					X																	128896711		2203	4300	6503	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128896711G>A	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1705G>A	X.37:g.128896711G>A	ENSP00000360147:p.Glu569Lys						p.E569K	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN			19	1897	+			569					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.1705G>A	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273804	0.80580	.	.	ENSG00000122121	ENST00000371106	D	0.85088	-1.94	5.7	5.7	0.88788	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.95277	0.8468	H	0.96970	3.915	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.96795	0.9585	10	0.87932	D	0	-14.4751	17.4383	0.87558	0.0:0.0:1.0:0.0	.	569	O43895	XPP2_HUMAN	K	569	ENSP00000360147:E569K	ENSP00000360147:E569K	E	+	1	0	XPNPEP2	128724392	1.000000	0.71417	0.959000	0.39883	0.455000	0.32408	7.109000	0.77062	2.387000	0.81309	0.594000	0.82650	GAA		0.547	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		26	6	0	0	0	1	0	26	6					A	128896711	G	A	128896711	3	1	435	1	0	0	0	0	1	0	0	0	17440	1059	37	2	1779	2	XPNPEP2	23	128896711	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3210934	128896711	26373849	9160	30085											
GPR119	139760	broad.mit.edu	37	chrX	129518840	129518840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcgaatctgctggctgtgCatggaggcaatcttgagcat	8	13	12	8	1	2	1	0	1	2	0	3	3	2	2	0	3	3	5	0	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:129518840C>T	ENST00000276218.2	-	1	671	c.582G>A	c.(580-582)atG>atA	p.M194I		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	194					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GCTGGCTGTGCATGGAGGCAA	0.542																																						ENST00000276218.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(580-582)atG>atA		G protein-coupled receptor 119							95	77	83					X																	129518840		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129518840C>T	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"GPCR / Class A : Orphans"	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.582G>A	X.37:g.129518840C>T	ENSP00000276218:p.Met194Ile						p.M194I	NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN			1	671	-			194					Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.582G>A	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	C	8.925	0.962039	0.18583	.	.	ENSG00000147262	ENST00000276218	T	0.36520	1.25	5.15	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.990688	0.08238	N	0.976481	T	0.23370	0.0565	N	0.14661	0.345	0.25844	N	0.984028	B	0.09022	0.002	B	0.13407	0.009	T	0.25398	-1.0133	10	0.40728	T	0.16	-0.4418	7.9434	0.29971	0.0:0.7262:0.0:0.2738	.	194	Q8TDV5	GP119_HUMAN	I	194	ENSP00000276218:M194I	ENSP00000276218:M194I	M	-	3	0	GPR119	129346521	0.882000	0.30256	0.712000	0.30502	0.813000	0.45954	1.485000	0.35519	0.560000	0.29169	0.600000	0.82982	ATG		0.542	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		11	7	0	0	0	1	0	11	7					T	129518840	C	T	129518840	3	4	435	1	0	0	0	0	1	0	0	0	6634	710	25	3	429	3	GPR119	23	129518840	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	622129	129518840	25751720	9161	30086											
GPR119	139760	broad.mit.edu	37	chrX	129519098	129519098	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagtagcggaagggctgCttgatggcaaggtacctgtc	9	10	14	8	1	1	1	1	1	0	0	2	2	1	2	1	4	3	5	1	4	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:129519098C>T	ENST00000276218.2	-	1	413	c.324G>A	c.(322-324)aaG>aaA	p.K108K		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	108					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GGAAGGGCTGCTTGATGGCAA	0.577																																						ENST00000276218.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(322-324)aaG>aaA		G protein-coupled receptor 119							119	116	117					X																	129519098		2203	4300	6503	SO:0001819	synonymous_variant	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129519098C>T	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"GPCR / Class A : Orphans"	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.324G>A	X.37:g.129519098C>T							p.K108K	NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN			1	413	-			108					Q495H7|Q4VBN3	Silent	SNP	ENST00000276218.2	37	c.324G>A	CCDS14625.1																																																																																				0.577	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		41	9	0	0	0	1	0	41	9					T	129519098	C	T	129519098	2	4	435	1	0	0	0	0	0	0	0	1	6634	796	28	3		3	GPR119	23	129519098	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	258	129519098	25751462	9162	30087											
ENOX2	10495	broad.mit.edu	37	chrX	129813662	129813662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtcccattttcaggcagaCcacccacaaatactgttttg	10	12	6	13	0	1	1	1	0	0	1	2	1	2	1	3	1	1	2	3	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:129813662C>T	ENST00000370927.1	-	4	422	c.401G>A	c.(400-402)gGt>gAt	p.G134D	ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370935.1_Missense_Mutation_p.G105D|ENOX2_ENST00000394363.1_Missense_Mutation_p.G105D|ENOX2_ENST00000338144.3_Missense_Mutation_p.G134D			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	134	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTCAGGCAGACCACCCACAAA	0.433																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(400-402)gGt>gAt		ecto-NOX disulfide-thiol exchanger 2							139	115	123					X																	129813662		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129813662C>T	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.401G>A	X.37:g.129813662C>T	ENSP00000359965:p.Gly134Asp					ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370927.1_Missense_Mutation_p.G134D|ENOX2_ENST00000394363.1_Missense_Mutation_p.G105D|ENOX2_ENST00000370935.1_Missense_Mutation_p.G105D	p.G134D	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			7	818	-			134			RRM.		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.401G>A	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870682	0.91587	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.32	5.32	0.75619	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.058752	0.64402	D	0.000002	D	0.88760	0.6524	M	0.87038	2.855	0.58432	D	0.999999	D	0.69078	0.997	D	0.69654	0.965	D	0.90029	0.4133	9	.	.	.	-10.0507	15.1952	0.73081	0.0:1.0:0.0:0.0	.	134	Q16206	ENOX2_HUMAN	D	105;105;134;105;162;134;105	ENSP00000359973:G105D;ENSP00000337146:G134D;ENSP00000377890:G105D;ENSP00000359965:G134D;ENSP00000400304:G105D	.	G	-	2	0	ENOX2	129641343	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.245000	0.78237	2.472000	0.83506	0.600000	0.82982	GGT		0.433	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		36	8	0	0	0	1	0	36	8					T	129813662	C	T	129813662	3	4	435	1	0	0	0	0	1	0	0	0	5127	507	18	3	1471	3	ENOX2	23	129813662	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	294564	129813662	25456898	9163	30088											
MST4	51765	broad.mit.edu	37	chrX	131188701	131188701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactgttcacaaaattagagCgcattgggaaaggctcattt	14	11	9	7	1	2	1	2	0	0	1	2	2	2	2	0	2	2	3	0	2	5	4	rs375587063		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:131188701C>T	ENST00000354719.6	+	3	301	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	MST4_ENST00000496850.1_Missense_Mutation_p.R29C|MST4_ENST00000481105.1_Missense_Mutation_p.R29C|MST4_ENST00000394335.2_Intron|MST4_ENST00000394334.2_Missense_Mutation_p.R29C																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)					AAAATTAGAGCGCATTGGGAA	0.388													C|||	1	0.000264901	0	0	3775	,	,		13346	0		0.001	False		,,,				2504	0					ENST00000394334.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(85-87)Cgc>Tgc				C	CYS/ARG,,CYS/ARG	0,3835		0,0,1632,571	71	65	67		85,,85	4.4	1	X		67	1,6727		0,1,2427,1872	no	missense,intron,missense	MST4	NM_001042452.1,NM_001042453.1,NM_016542.3	180,,180	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,,probably-damaging	29/355,,29/417	131188701	1,10562	2203	4300	6503	SO:0001583	missense	0				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131188701C>T																												ENST00000354719.6:c.85C>T	X.37:g.131188701C>T	ENSP00000346755:p.Arg29Cys					MST4_ENST00000496850.1_Missense_Mutation_p.R29C|MST4_ENST00000394335.2_Intron|MST4_ENST00000481105.1_Missense_Mutation_p.R29C|MST4_ENST00000354719.6_Missense_Mutation_p.R29C	p.R29C	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN			3	338	+	Acute lymphoblastic leukemia(192;0.000127)		29			Protein kinase.			Missense_Mutation	SNP	ENST00000354719.6	37	c.85C>T		.	.	.	.	.	.	.	.	.	.	C	15.10	2.734060	0.48939	0.0	1.49E-4	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000496850	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.3	4.44	0.53790	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.42562	0.1208	L	0.53561	1.675	0.80722	D	1	P;P;P;D	0.89917	0.525;0.495;0.503;1.0	B;B;B;D	0.68943	0.124;0.075;0.037;0.961	T	0.14755	-1.0461	10	0.30078	T	0.28	.	13.0553	0.58977	0.0:0.9211:0.0:0.0789	.	29;29;29;29	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289	.;.;.;MST4_HUMAN	C	29	ENSP00000377867:R29C;ENSP00000418753:R29C;ENSP00000346755:R29C;ENSP00000419702:R29C	ENSP00000346755:R29C	R	+	1	0	AL109749.1	131016382	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.716000	0.61916	1.211000	0.43351	0.594000	0.82650	CGC		0.388	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			26	7	0	0	0	1	0	26	7					T	131188701	C	T	131188701	3	4	435	1	0	0	0	0	1	0	0	0	9892	768	27	1	91	1	MST4	23	131188701	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1375039	131188701	24081859	9164	30089											
FRMD7	90167	broad.mit.edu	37	chrX	131219626	131219626	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacccgtaacaccagtactcCcatgtgagcaacagccaggt	12	7	8	14	1	0	1	0	1	0	0	1	1	1	1	4	1	6	3	4	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:131219626C>A	ENST00000298542.4	-	7	803	c.628G>T	c.(628-630)Gga>Tga	p.G210*	FRMD7_ENST00000464296.1_Nonsense_Mutation_p.G195*|FRMD7_ENST00000370879.1_Nonsense_Mutation_p.G90*	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	210	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				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)					ACCAGTACTCCCATGTGAGCA	0.507																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(628-630)Gga>Tga		FERM domain containing 7							166	139	148					X																	131219626		2203	4300	6503	SO:0001587	stop_gained	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131219626C>A	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.628G>T	X.37:g.131219626C>A	ENSP00000298542:p.Gly210*					FRMD7_ENST00000464296.1_Nonsense_Mutation_p.G195*|FRMD7_ENST00000370879.1_Nonsense_Mutation_p.G90*	p.G210*	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			7	803	-	Acute lymphoblastic leukemia(192;0.000127)		210			FERM.		C0LLJ3|Q5JX99	Nonsense_Mutation	SNP	ENST00000298542.4	37	c.628G>T	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	39	7.780657	0.98486	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7225	0.88356	0.0:1.0:0.0:0.0	.	.	.	.	X	90;210;195	.	ENSP00000298542:G210X	G	-	1	0	FRMD7	131047307	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.087000	0.71362	2.402000	0.81655	0.600000	0.82982	GGA		0.507	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		5	60	1	0	0.0215528	1	0.0217053	5	60					A	131219626	C	A	131219626	4	1	435	1	0	0	0	0	0	1	0	0	6055	632	22	5	1540	5	FRMD7	23	131219626	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30925	131219626	24050934	9165	30090											
SLC9A6	10479	broad.mit.edu	37	chrX	135067782	135067782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgtctttgactgggcaGgggcttcggacggcggcggc	3	8	20	10	5	1	1	0	1	1	0	2	2	1	2	0	8	0	2	0	8	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:135067782G>T	ENST00000370698.3	+	1	156	c.121G>T	c.(121-123)Ggg>Tgg	p.G41W	SLC9A6_ENST00000370695.4_Missense_Mutation_p.G41W|SLC9A6_ENST00000370701.1_5'UTR	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	41					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGACTGGGCAGGGGCTTCGGA	0.701																																						ENST00000370695.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(121-123)Ggg>Tgg		solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6							37	40	39					X																	135067782		2202	4298	6500	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135067782G>T	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.121G>T	X.37:g.135067782G>T	ENSP00000359732:p.Gly41Trp					SLC9A6_ENST00000370698.3_Missense_Mutation_p.G41W|SLC9A6_ENST00000370701.1_5'UTR	p.G41W	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN			1	156	+	Acute lymphoblastic leukemia(192;0.000127)		41					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.121G>T	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	g	18.60	3.658121	0.67586	.	.	ENSG00000198689	ENST00000370698;ENST00000370695	T;T	0.57595	0.39;0.44	4.71	0.589	0.17452	.	1.150130	0.06385	N	0.715853	T	0.29976	0.0750	N	0.08118	0	0.42471	D	0.992825	B;B	0.27679	0.002;0.185	B;B	0.14023	0.002;0.01	T	0.02275	-1.1184	10	0.62326	D	0.03	.	5.7288	0.18028	0.1815:0.2925:0.526:0.0	.	41;41	Q92581-2;Q92581	.;SL9A6_HUMAN	W	41	ENSP00000359732:G41W;ENSP00000359729:G41W	ENSP00000359729:G41W	G	+	1	0	SLC9A6	134895448	0.000000	0.05858	0.953000	0.39169	0.977000	0.68977	-1.397000	0.02511	-0.362000	0.08113	0.373000	0.22412	GGG		0.701	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		22	5	1	0	3.01185e-09	1	3.19065e-09	22	5					T	135067782	G	T	135067782	3	4	435	1	0	0	0	0	1	0	0	0	14718	1000	35	5	123	5	SLC9A6	23	135067782	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3848156	135067782	20202778	9166	30091											
GPR112	139378	broad.mit.edu	37	chrX	135428888	135428888	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcattcctcagcaacccCtgtgcctgttactcatatgt	7	14	6	14	0	3	0	3	0	0	0	4	0	4	0	4	0	5	3	4	0	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:135428888C>A	ENST00000394143.1	+	6	3314	c.3023C>A	c.(3022-3024)cCt>cAt	p.P1008H	GPR112_ENST00000370652.1_Missense_Mutation_p.P1008H|GPR112_ENST00000412101.1_Missense_Mutation_p.P803H|GPR112_ENST00000394141.1_Missense_Mutation_p.P803H|GPR112_ENST00000287534.4_Missense_Mutation_p.P945H	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1008					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCAGCAACCCCTGTGCCTGTT	0.512																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(3022-3024)cCt>cAt		G protein-coupled receptor 112							187	160	169					X																	135428888		2203	4298	6501	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135428888C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3023C>A	X.37:g.135428888C>A	ENSP00000377699:p.Pro1008His					GPR112_ENST00000370652.1_Missense_Mutation_p.P1008H|GPR112_ENST00000287534.4_Missense_Mutation_p.P945H|GPR112_ENST00000412101.1_Missense_Mutation_p.P803H|GPR112_ENST00000394141.1_Missense_Mutation_p.P803H	p.P1008H	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	3314	+	Acute lymphoblastic leukemia(192;0.000127)		1008					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3023C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	4.033	0.003737	0.07866	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.53206	0.67;0.67;0.63;0.71;0.63	2.37	-1.6	0.08426	.	.	.	.	.	T	0.25568	0.0622	N	0.17082	0.46	0.09310	N	1	B;B;B	0.14012	0.009;0.006;0.003	B;B;B	0.14578	0.011;0.01;0.004	T	0.15122	-1.0448	9	0.49607	T	0.09	.	2.6901	0.05118	0.2172:0.3385:0.0:0.4444	.	945;803;1008	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	H	1008;1008;803;945;803	ENSP00000377699:P1008H;ENSP00000359686:P1008H;ENSP00000416526:P803H;ENSP00000287534:P945H;ENSP00000377697:P803H	ENSP00000287534:P945H	P	+	2	0	GPR112	135256554	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.193000	0.09573	-0.647000	0.05444	-0.921000	0.02739	CCT		0.512	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			4	70	1	0	0.00024832	1	0.000253518	4	70					A	135428888	C	A	135428888	3	1	435	1	0	0	0	0	1	0	0	0	6629	681	24	5	3033	5	GPR112	23	135428888	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	361106	135428888	19841672	9167	30092											
GPR101	83550	broad.mit.edu	37	chrX	136113733	136113733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agataaccagcacggttgagCggatgatgccgtgggccagg	10	6	16	9	3	0	3	0	2	0	1	0	4	0	4	3	4	4	2	3	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:136113733C>T	ENST00000298110.1	-	1	100	c.101G>A	c.(100-102)cGc>cAc	p.R34H		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CACGGTTGAGCGGATGATGCC	0.607																																						ENST00000298110.1																			0				autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(100-102)cGc>cAc		G protein-coupled receptor 101							97	72	80					X																	136113733		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113733C>T	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.101G>A	X.37:g.136113733C>T	ENSP00000298110:p.Arg34His						p.R34H	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	100	-	Acute lymphoblastic leukemia(192;0.000127)		34					Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.101G>A	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801154	0.50315	.	.	ENSG00000165370	ENST00000298110	T	0.37058	1.22	5.09	5.09	0.68999	.	.	.	.	.	T	0.44201	0.1282	L	0.27053	0.805	0.29707	N	0.839708	D	0.76494	0.999	D	0.71184	0.972	T	0.35871	-0.9771	9	0.49607	T	0.09	-14.9789	10.2042	0.43103	0.1981:0.8019:0.0:0.0	.	34	Q96P66	GP101_HUMAN	H	34	ENSP00000298110:R34H	ENSP00000298110:R34H	R	-	2	0	GPR101	135941399	0.294000	0.24380	0.991000	0.47740	0.686000	0.39977	0.902000	0.28459	2.100000	0.63781	0.544000	0.68410	CGC		0.607	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			32	7	0	0	0	1	0	32	7					T	136113733	C	T	136113733	3	4	435	1	0	0	0	0	1	0	0	0	6622	768	27	1	1428	1	GPR101	23	136113733	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	684845	136113733	19156827	9168	30093											
ZIC3	7547	broad.mit.edu	37	chrX	136649562	136649562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcccaccacgggcccggcGccttcttccgttatatgcgg	4	8	12	17	6	1	0	0	0	1	0	2	0	2	0	5	4	1	1	5	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:136649562G>A	ENST00000287538.5	+	1	1262	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	ZIC3_ENST00000370606.3_Missense_Mutation_p.A238T	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	238					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CGGGCCCGGCGCCTTCTTCCG	0.642																																						ENST00000287538.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37						c.(712-714)Gcc>Acc		Zic family member 3							30	33	32					X																	136649562		2188	4285	6473	SO:0001583	missense	7547				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	g.chrX:136649562G>A	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"Zinc fingers, C2H2-type"	12874	protein-coding gene	gene with protein product		300265	"heterotaxy 1", "Zic family member 3 (odd-paired homolog, Drosophila)"	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.712G>A	X.37:g.136649562G>A	ENSP00000287538:p.Ala238Thr					ZIC3_ENST00000370606.3_Missense_Mutation_p.A238T	p.A238T	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN			1	1262	+	Acute lymphoblastic leukemia(192;0.000127)		238					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.712G>A	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.950574	0.73787	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.47528	0.84;0.84	4.58	4.58	0.56647	.	0.056975	0.64402	D	0.000002	T	0.72078	0.3416	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.79269	-0.1873	10	0.87932	D	0	.	15.0189	0.71613	0.0:0.0:1.0:0.0	.	238	O60481	ZIC3_HUMAN	T	238	ENSP00000287538:A238T;ENSP00000359638:A238T	ENSP00000287538:A238T	A	+	1	0	ZIC3	136477228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.254000	0.95512	2.100000	0.63781	0.597000	0.82753	GCC		0.642	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			14	2	0	0	0	1	0	14	2					A	136649562	G	A	136649562	3	1	435	1	0	0	0	0	1	0	0	0	17677	1087	38	1	714	1	ZIC3	23	136649562	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	535829	136649562	18620998	9169	30094											
F9	2158	broad.mit.edu	37	chrX	138630553	138630553	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacattaagaatggcagatgCgagcagttttgtaaaaatag	17	10	10	4	1	0	2	0	0	0	2	0	3	0	2	0	1	3	4	0	1	7	5	rs150041781	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:138630553C>T	ENST00000218099.2	+	5	430	c.423C>T	c.(421-423)tgC>tgT	p.C141C	F9_ENST00000394090.2_Silent_p.C103C	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	141	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			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)|Menadione(DB00170)	ATGGCAGATGCGAGCAGTTTT	0.383																																						ENST00000218099.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CI043724|CM940497|CM940498	F9	I|M	rs150041781	c.(421-423)tgC>tgT		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	C		0,3835		0,0,0,1632,571	188	163	171		423	3.1	1	X	dbSNP_134	171	1,6727		0,0,1,2428,1871	no	coding-synonymous	F9	NM_000133.3		0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095		141/462	138630553	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	2158				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	g.chrX:138630553C>T	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.423C>T	X.37:g.138630553C>T						F9_ENST00000394090.2_Silent_p.C103C	p.C141C	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN			5	430	+	Acute lymphoblastic leukemia(192;0.000127)		141			EGF-like 2.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Silent	SNP	ENST00000218099.2	37	c.423C>T	CCDS14666.1																																																																																				0.383	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			22	24	0	0	0	1	0	22	24					T	138630553	C	T	138630553	2	4	435	1	0	0	0	0	0	0	0	1	5351	776	27	1		1	F9	23	138630553	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1980991	138630553	16640007	9170	30095											
ATP11C	286410	broad.mit.edu	37	chrX	138820132	138820132	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaagaatctcagggaacagGctgataaatattagaagaat	19	8	10	4	0	1	5	1	1	1	4	2	6	1	6	0	2	1	1	0	2	9	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:138820132G>A	ENST00000327569.3	-	28	3338	c.3240C>T	c.(3238-3240)agC>agT	p.S1080S	ATP11C_ENST00000370543.1_Silent_p.S1080S|ATP11C_ENST00000359686.2_Silent_p.S1080S|ATP11C_ENST00000361648.2_Silent_p.S1080S|ATP11C_ENST00000370557.1_Silent_p.S1074S|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	1080					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAGGGAACAGGCTGATAAATA	0.378																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(3220-3222)agC>agT		ATPase, class VI, type 11C							79	72	75					X																	138820132		2203	4299	6502	SO:0001819	synonymous_variant	286410				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	g.chrX:138820132G>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.3240C>T	X.37:g.138820132G>A						ATP11C_ENST00000361648.2_Silent_p.S1080S|ATP11C_ENST00000359686.2_Silent_p.S1080S|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Silent_p.S1080S|ATP11C_ENST00000327569.3_Silent_p.S1080S	p.S1074S			Q8NB49	AT11C_HUMAN			28	4249	-	Acute lymphoblastic leukemia(192;0.000127)		1080					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	c.3222C>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	G	6.093	0.385505	0.11524	.	.	ENSG00000101974	ENST00000433868	.	.	.	5.82	4.05	0.47172	.	.	.	.	.	T	0.58018	0.2093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54781	-0.8242	4	.	.	.	.	7.88	0.29616	0.25:0.0:0.7499:0.0	.	.	.	.	S	113	.	.	P	-	1	0	ATP11C	138647798	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.311000	0.51919	1.226000	0.43582	0.600000	0.82982	CCT		0.378	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		14	44	0	0	0	1	0	14	44					A	138820132	G	A	138820132	2	1	435	1	0	0	0	0	0	0	0	1	1121	1194	42	3		3	ATP11C	23	138820132	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	189579	138820132	16450428	9171	30096											
SOX3	6658	broad.mit.edu	37	chrX	139587164	139587164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttatcaaaatgctccgcGccaaatcagcaggaacccgc	12	6	9	14	3	2	0	2	0	0	0	3	1	3	1	3	2	3	3	3	2	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:139587164G>A	ENST00000370536.2	-	1	61	c.62C>T	c.(61-63)gCg>gTg	p.A21V		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	21					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					AATGCTCCGCGCCAAATCAGC	0.622																																						ENST00000370536.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10						c.(61-63)gCg>gTg		SRY (sex determining region Y)-box 3							11	11	11					X																	139587164		2192	4274	6466	SO:0001583	missense	6658				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	g.chrX:139587164G>A		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"SRY (sex determining region Y)-boxes"	11199	protein-coding gene	gene with protein product		313430	"panhypopituitarism"	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.62C>T	X.37:g.139587164G>A	ENSP00000359567:p.Ala21Val						p.A21V	NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN			1	61	-	Acute lymphoblastic leukemia(192;7.65e-05)		21					P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP	ENST00000370536.2	37	c.62C>T	CCDS14669.1	.	.	.	.	.	.	.	.	.	.	g	8.181	0.793926	0.16327	.	.	ENSG00000134595	ENST00000370536	D	0.98090	-4.71	3.01	1.12	0.20585	.	.	.	.	.	D	0.91915	0.7440	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.83138	-0.0110	8	.	.	.	.	3.0827	0.06267	0.1535:0.0:0.5835:0.263	.	21	P41225	SOX3_HUMAN	V	21	ENSP00000359567:A21V	.	A	-	2	0	SOX3	139414830	0.072000	0.21174	0.008000	0.14137	0.054000	0.15201	0.072000	0.14617	0.168000	0.19655	0.525000	0.51046	GCG		0.622	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			5	0	0	0	0	1	0	5	0					A	139587164	G	A	139587164	3	1	435	1	0	0	0	0	1	0	0	0	14951	1087	38	1	1282	1	SOX3	23	139587164	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	767032	139587164	15683396	9172	30097											
MAGEC2	51438	broad.mit.edu	37	chrX	141291203	141291203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggcaaggccaaaaagaaGctccatgaactcacgggctc	14	4	11	12	1	1	2	1	1	0	1	3	2	2	2	2	3	2	3	2	3	5	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:141291203G>A	ENST00000247452.3	-	3	918	c.571C>T	c.(571-573)Ctt>Ttt	p.L191F		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	191	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAAAGAAGCTCCATGAAC	0.488										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(571-573)Ctt>Ttt		melanoma antigen family C, 2							135	130	131					X																	141291203		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291203G>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.571C>T	X.37:g.141291203G>A	ENSP00000354660:p.Leu191Phe	HNSCC(46;0.14)					p.L191F	NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN			3	918	-	Acute lymphoblastic leukemia(192;6.56e-05)		191			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.571C>T	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	11.52	1.662367	0.29515	.	.	ENSG00000046774	ENST00000247452	T	0.05199	3.48	0.988	-0.0892	0.13670	.	0.253468	0.31922	U	0.006848	T	0.21062	0.0507	M	0.86573	2.825	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04128	-1.0975	10	0.72032	D	0.01	.	4.457	0.11647	0.0:0.4202:0.5798:0.0	.	191	Q9UBF1	MAGC2_HUMAN	F	191	ENSP00000354660:L191F	ENSP00000354660:L191F	L	-	1	0	MAGEC2	141118869	0.717000	0.27966	0.005000	0.12908	0.201000	0.24016	0.974000	0.29436	-0.088000	0.12506	0.284000	0.19432	CTT		0.488	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		30	35	0	0	0	1	0	30	35					A	141291203	G	A	141291203	3	1	435	1	0	0	0	0	1	0	0	0	9181	971	34	3	554	3	MAGEC2	23	141291203	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1704039	141291203	13979357	9173	30098											
SLITRK2	84631	broad.mit.edu	37	chrX	144904206	144904206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgtcaattactccaacgCggtgactcttcacctaggta	10	13	7	11	2	3	1	2	1	1	0	4	1	4	1	2	2	2	1	2	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:144904206C>T	ENST00000370490.1	+	1	4518	c.263C>T	c.(262-264)gCg>gTg	p.A88V	SLITRK2_ENST00000434188.2_Missense_Mutation_p.A88V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.A88V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.A88V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.A88V			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	88					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TACTCCAACGCGGTGACTCTT	0.473																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(262-264)gCg>gTg		SLIT and NTRK-like family, member 2							86	79	82					X																	144904206		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144904206C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.263C>T	X.37:g.144904206C>T	ENSP00000359521:p.Ala88Val					SLITRK2_ENST00000428560.2_Missense_Mutation_p.A88V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.A88V|SLITRK2_ENST00000434188.2_Missense_Mutation_p.A88V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.A88V	p.A88V			Q9H156	SLIK2_HUMAN			1	4518	+	Acute lymphoblastic leukemia(192;6.56e-05)		88					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.263C>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917231	0.52546	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.08	4.2	0.49525	.	0.065559	0.64402	U	0.000010	T	0.20251	0.0487	N	0.01122	-1.005	0.38509	D	0.948426	B	0.20459	0.045	B	0.16722	0.016	T	0.06789	-1.0807	10	0.41790	T	0.15	-6.3643	12.2168	0.54410	0.0:0.8314:0.1686:0.0	.	88	Q9H156	SLIK2_HUMAN	V	88	ENSP00000334374:A88V;ENSP00000411681:A88V;ENSP00000359521:A88V;ENSP00000397015:A88V;ENSP00000407347:A88V;ENSP00000412010:A88V	ENSP00000334374:A88V	A	+	2	0	SLITRK2	144711898	1.000000	0.71417	0.682000	0.30024	0.867000	0.49689	5.667000	0.68067	0.886000	0.36113	0.600000	0.82982	GCG		0.473	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		14	36	0	0	0	1	0	14	36					T	144904206	C	T	144904206	3	4	435	1	0	0	0	0	1	0	0	0	14743	768	27	1	265	1	SLITRK2	23	144904206	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3613003	144904206	10366354	9174	30099											
AFF2	2334	broad.mit.edu	37	chrX	147967510	147967510	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgcactgccactgagctcTaccaggttagaagagcttag	11	9	11	10	0	1	3	0	1	1	2	1	3	1	3	2	1	5	4	2	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:147967510T>C	ENST00000370460.2	+	8	1833	c.1354T>C	c.(1354-1356)Tac>Cac	p.Y452H	AFF2_ENST00000370458.1_Missense_Mutation_p.Y413H|AFF2_ENST00000370457.5_Missense_Mutation_p.Y419H|AFF2_ENST00000286437.5_Missense_Mutation_p.Y93H|AFF2_ENST00000342251.3_Missense_Mutation_p.Y419H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	452					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			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)					CACTGAGCTCTACCAGGTTAG	0.502																																						ENST00000370460.2																			0				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						c.(1354-1356)Tac>Cac		AF4/FMR2 family, member 2							198	171	180					X																	147967510		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147967510T>C	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1354T>C	X.37:g.147967510T>C	ENSP00000359489:p.Tyr452His					AFF2_ENST00000342251.3_Missense_Mutation_p.Y419H|AFF2_ENST00000370458.1_Missense_Mutation_p.Y413H|AFF2_ENST00000370457.5_Missense_Mutation_p.Y419H|AFF2_ENST00000286437.5_Missense_Mutation_p.Y93H	p.Y452H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			8	1833	+	Acute lymphoblastic leukemia(192;6.56e-05)		452					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1354T>C	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.884678	0.33255	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458;ENST00000286437	T;T;T;T;T	0.71817	-0.0;-0.26;-0.26;0.94;-0.6	4.6	4.6	0.57074	.	0.464806	0.21043	N	0.081138	T	0.70193	0.3196	L	0.29908	0.895	0.24347	N	0.994935	B;B;D;D;D;D;D	0.76494	0.031;0.025;0.997;0.997;0.999;0.998;0.989	B;B;D;D;D;D;P	0.80764	0.036;0.012;0.991;0.991;0.994;0.988;0.689	T	0.58651	-0.7599	10	0.15499	T	0.54	.	7.4825	0.27413	0.0:0.1029:0.0:0.8971	.	93;417;419;413;442;452;413	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;.;AFF2_HUMAN;.	H	452;419;419;413;93	ENSP00000359489:Y452H;ENSP00000359486:Y419H;ENSP00000345459:Y419H;ENSP00000359487:Y413H;ENSP00000286437:Y93H	ENSP00000286437:Y93H	Y	+	1	0	AFF2	147775203	0.954000	0.32549	1.000000	0.80357	0.878000	0.50629	0.869000	0.27996	1.808000	0.52836	0.481000	0.45027	TAC		0.502	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		3	68	0	0	0	1	0	3	68					C	147967510	T	C	147967510	3	2	435	1	0	0	0	0	1	0	0	0	357	1522	53	4	1439	4	AFF2	23	147967510	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	3063304	147967510	7303050	9175	30100											
IDS	3423	broad.mit.edu	37	chrX	148585690	148585690	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggttcccagacatacctgCgcaaaggcattctggaagag	12	7	12	10	1	1	2	0	0	1	2	2	4	2	3	2	3	2	3	2	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:148585690C>T	ENST00000340855.6	-	2	446	c.237G>A	c.(235-237)gcG>gcA	p.A79A	IDS_ENST00000427113.2_Intron|IDS_ENST00000370441.4_Silent_p.A79A|IDS_ENST00000541269.1_Intron|IDS_ENST00000422081.2_Intron|IDS_ENST00000370443.4_Silent_p.A79A|IDS_ENST00000428056.2_Silent_p.A79A|IDS_ENST00000490775.1_5'Flank	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	79			A -> E (in MPS2; mild form). {ECO:0000269|PubMed:9921913}.		carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GACATACCTGCGCAAAGGCAT	0.572																																						ENST00000340855.6																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20						c.(235-237)gcG>gcA		iduronate 2-sulfatase							57	44	48					X																	148585690		2203	4297	6500	SO:0001819	synonymous_variant	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148585690C>T	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"Hunter syndrome"	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.237G>A	X.37:g.148585690C>T						IDS_ENST00000541269.1_Intron|IDS_ENST00000370441.4_Silent_p.A79A|IDS_ENST00000370443.4_Silent_p.A79A|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000428056.2_Silent_p.A79A	p.A79A	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN			2	446	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		79		A -> E (in MPS2; mild form).			D3DWT4|Q14604|Q9BRM3	Silent	SNP	ENST00000340855.6	37	c.237G>A	CCDS14685.1																																																																																				0.572	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			4	3	0	0	0	1	0	4	3					T	148585690	C	T	148585690	2	4	435	1	0	0	0	0	0	0	0	1	7503	768	27	1		1	IDS	23	148585690	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	618180	148585690	6684870	9176	30101											
MTM1	4534	broad.mit.edu	37	chrX	149787588	149787588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgagatcctcacgagataCgcgtttcccctggctcacag	8	11	9	13	3	2	2	2	1	0	2	4	4	4	2	3	1	1	2	3	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:149787588C>T	ENST00000370396.2	+	6	474	c.420C>T	c.(418-420)taC>taT	p.Y140Y	MTM1_ENST00000542741.1_Silent_p.Y45Y|MTM1_ENST00000543350.1_Silent_p.Y25Y|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Silent_p.Y103Y	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	140					endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCACGAGATACGCGTTTCCCC	0.512																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(418-420)taC>taT		myotubularin 1							214	144	168					X																	149787588		2203	4300	6503	SO:0001819	synonymous_variant	4534				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	g.chrX:149787588C>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7448	protein-coding gene	gene with protein product		300415	"myotubular myopathy 1"				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.420C>T	X.37:g.149787588C>T						MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Silent_p.Y103Y|MTM1_ENST00000543350.1_Silent_p.Y25Y|MTM1_ENST00000542741.1_Silent_p.Y45Y	p.Y140Y	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			6	474	+	Acute lymphoblastic leukemia(192;6.56e-05)		140					A6NDB1|B7Z491|F2Z330|Q8NEL1	Silent	SNP	ENST00000370396.2	37	c.420C>T	CCDS14694.1																																																																																				0.512	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		19	5	0	0	0	1	0	19	5					T	149787588	C	T	149787588	2	4	435	1	0	0	0	0	0	0	0	1	9937	547	19	1		1	MTM1	23	149787588	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1201898	149787588	5482972	9177	30102											
PASD1	139135	broad.mit.edu	37	chrX	150842563	150842563	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggattacatccggctttggCaagagttgtctgattcactc	9	13	10	9	1	2	2	1	1	1	1	4	3	3	3	1	3	1	3	1	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:150842563C>T	ENST00000370357.4	+	15	2325	c.2080C>T	c.(2080-2082)Caa>Taa	p.Q694*		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	694						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			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)					CCGGCTTTGGCAAGAGTTGTC	0.517																																						ENST00000370357.4																			0				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						c.(2080-2082)Caa>Taa		PAS domain containing 1							125	116	119					X																	150842563		2203	4300	6503	SO:0001587	stop_gained	139135					nucleus	signal transducer activity	g.chrX:150842563C>T	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.2080C>T	X.37:g.150842563C>T	ENSP00000359382:p.Gln694*						p.Q694*	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			15	2325	+	Acute lymphoblastic leukemia(192;6.56e-05)		694					Q3MNE0|Q69HD7|Q8N7X9	Nonsense_Mutation	SNP	ENST00000370357.4	37	c.2080C>T	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804613	0.90623	.	.	ENSG00000166049	ENST00000370357	.	.	.	3.37	1.55	0.23275	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999998	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.0393	5.2975	0.15760	0.2361:0.5388:0.2251:0.0	.	.	.	.	X	694	.	ENSP00000359382:Q694X	Q	+	1	0	PASD1	150593219	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	-0.535000	0.06142	0.274000	0.22072	-1.045000	0.02358	CAA		0.517	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		30	9	0	0	0	1	0	30	9					T	150842563	C	T	150842563	4	4	435	1	0	0	0	0	0	1	0	0	11471	711	25	3	2134	3	PASD1	23	150842563	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1054975	150842563	4427997	9178	30103											
PRRG3	79057	broad.mit.edu	37	chrX	150869494	150869494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtggccgccaaccctggcGctgacaagtagtgggacgtt	8	8	14	11	3	0	1	0	1	0	0	0	2	0	2	3	3	1	3	3	3	4	3	rs1106194	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:150869494G>A	ENST00000370353.3	+	4	1075	c.685G>A	c.(685-687)Gct>Act	p.A229T	PRRG3_ENST00000538575.1_Missense_Mutation_p.A229T			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	229						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			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)					CAACCCTGGCGCTGACAAGTA	0.542													G|||	11	0.00291391	0.0083	0	3775	,	,		12842	0		0	False		,,,				2504	0					ENST00000370353.3																			0				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						c.(685-687)Gct>Act		proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)		G	THR/ALA	26,3809		0,25,1,1607,570	83	74	77		685	1.1	0.7	X	dbSNP_86	77	0,6726		0,0,0,2427,1872	yes	missense	PRRG3	NM_024082.3	58	0,25,1,4034,2442	AA,AG,A,GG,G		0.0,0.678,0.2462	benign	229/232	150869494	26,10535	2203	4299	6502	SO:0001583	missense	79057					extracellular region|integral to membrane	calcium ion binding	g.chrX:150869494G>A	AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.685G>A	X.37:g.150869494G>A	ENSP00000359378:p.Ala229Thr					PRRG3_ENST00000538575.1_Missense_Mutation_p.A229T	p.A229T			Q9BZD7	TMG3_HUMAN			4	1075	+	Acute lymphoblastic leukemia(192;6.56e-05)		229					A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	ENST00000370353.3	37	c.685G>A	CCDS14699.1	3	0.0018083182640144665	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	7.803	0.713976	0.15306	0.00678	0.0	ENSG00000130032	ENST00000538575;ENST00000370353	D;D	0.98234	-4.81;-4.81	4.29	1.07	0.20283	.	0.722577	0.11629	N	0.545033	D	0.89539	0.6744	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	D	0.83622	0.0140	9	.	.	.	.	4.4613	0.11668	0.2623:0.0:0.4727:0.2649	rs1106194;rs4345702	229	Q9BZD7	TMG3_HUMAN	T	229	ENSP00000440217:A229T;ENSP00000359378:A229T	.	A	+	1	0	PRRG3	150620150	0.000000	0.05858	0.721000	0.30653	0.241000	0.25554	-0.101000	0.10973	-0.002000	0.14469	-0.215000	0.12644	GCT		0.542	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		18	2	0	0	0	1	0	18	2					A	150869494	G	A	150869494	3	1	435	1	0	0	0	0	1	0	0	0	12607	1087	38	1	695	1	PRRG3	23	150869494	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26931	150869494	4401066	9179	30104											
MAGEA4	4103	broad.mit.edu	37	chrX	151092278	151092278	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcctcctctcctctggtcCctggcaccctggaggaagtg	4	10	10	17	0	2	0	0	0	2	0	6	2	5	2	6	4	0	1	6	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:151092278C>A	ENST00000360243.2	+	3	409	c.142C>A	c.(142-144)Cct>Act	p.P48T	MAGEA4_ENST00000393921.1_Missense_Mutation_p.P48T|MAGEA4_ENST00000370340.3_Missense_Mutation_p.P48T|MAGEA4_ENST00000393920.1_Missense_Mutation_p.P48T|MAGEA4_ENST00000276344.2_Missense_Mutation_p.P48T|MAGEA4_ENST00000370337.4_Missense_Mutation_p.P48T|MAGEA4_ENST00000370335.1_Missense_Mutation_p.P48T	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	48				P -> L (in Ref. 3; BAA06841). {ECO:0000305}.						breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTGGTCCCTGGCACCCT	0.627																																						ENST00000370335.1																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(142-144)Cct>Act		melanoma antigen family A, 4							62	58	60					X																	151092278		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151092278C>A		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"melanoma-associated antigen 4", "cancer/testis antigen family 1, member 4"	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.142C>A	X.37:g.151092278C>A	ENSP00000353379:p.Pro48Thr					MAGEA4_ENST00000276344.2_Missense_Mutation_p.P48T|MAGEA4_ENST00000370337.4_Missense_Mutation_p.P48T|MAGEA4_ENST00000370340.3_Missense_Mutation_p.P48T|MAGEA4_ENST00000393920.1_Missense_Mutation_p.P48T|MAGEA4_ENST00000393921.1_Missense_Mutation_p.P48T|MAGEA4_ENST00000360243.2_Missense_Mutation_p.P48T	p.P48T			P43358	MAGA4_HUMAN			3	409	+	Acute lymphoblastic leukemia(192;6.56e-05)		48	P -> L (in Ref. 3; BAA06841).				Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.142C>A	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	C	1.284	-0.609475	0.03690	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62	2.4	1.12	0.20585	Melanoma associated antigen, MAGE, N-terminal (1);	3.184590	0.00819	N	0.001567	T	0.07773	0.0195	M	0.65975	2.015	0.09310	N	1	P	0.36086	0.536	B	0.36608	0.229	T	0.38329	-0.9666	10	0.21014	T	0.42	.	4.5033	0.11874	0.0:0.7407:0.0:0.2593	.	48	P43358	MAGA4_HUMAN	T	48	ENSP00000387777:P48T;ENSP00000276344:P48T;ENSP00000391904:P48T;ENSP00000377498:P48T;ENSP00000394149:P48T;ENSP00000359362:P48T;ENSP00000402624:P48T;ENSP00000377497:P48T;ENSP00000359365:P48T;ENSP00000394073:P48T;ENSP00000400900:P48T;ENSP00000402186:P48T;ENSP00000359360:P48T;ENSP00000353379:P48T;ENSP00000390096:P48T	ENSP00000276344:P48T	P	+	1	0	MAGEA4	150842934	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.564000	0.00918	0.183000	0.20059	0.436000	0.28706	CCT		0.627	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		12	11	1	0	3.07112e-06	1	3.18879e-06	12	11					A	151092278	C	A	151092278	3	1	435	1	0	0	0	0	1	0	0	0	9168	623	22	5	144	5	MAGEA4	23	151092278	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	222784	151092278	4178282	9180	30105											
GABRE	2564	broad.mit.edu	37	chrX	151123859	151123859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggcggagtttaggagaaGcatgggcttttgtctggttg	7	13	16	5	1	1	1	0	0	1	1	1	3	1	2	0	5	1	4	0	5	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:151123859G>A	ENST00000370328.3	-	8	1171	c.1118C>T	c.(1117-1119)gCt>gTt	p.A373V	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_Intron	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	373					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTAGGAGAAGCATGGGCTTT	0.498																																						ENST00000370328.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(1117-1119)gCt>gTt		gamma-aminobutyric acid (GABA) A receptor, epsilon							102	88	93					X																	151123859		2203	4300	6503	SO:0001583	missense	2564				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	g.chrX:151123859G>A	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1118C>T	X.37:g.151123859G>A	ENSP00000359353:p.Ala373Val					GABRE_ENST00000370325.1_Intron|GABRE_ENST00000483564.1_5'UTR	p.A373V	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN			8	1171	-	Acute lymphoblastic leukemia(192;6.56e-05)		373					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.1118C>T	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	G	3.659	-0.069981	0.07228	.	.	ENSG00000102287	ENST00000370328	D	0.85556	-2.0	4.13	2.33	0.28932	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.974480	0.01190	N	0.007300	D	0.89210	0.6650	L	0.48362	1.52	0.09310	N	1	D	0.61080	0.989	P	0.61940	0.896	T	0.72757	-0.4197	10	0.35671	T	0.21	.	9.5963	0.39576	0.0:0.4471:0.5529:0.0	.	373	P78334	GBRE_HUMAN	V	373	ENSP00000359353:A373V	ENSP00000359353:A373V	A	-	2	0	GABRE	150874515	0.697000	0.27767	0.360000	0.25837	0.022000	0.10575	0.766000	0.26560	0.506000	0.28125	-0.218000	0.12543	GCT		0.498	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		20	6	0	0	0	1	0	20	6					A	151123859	G	A	151123859	3	1	435	1	0	0	0	0	1	0	0	0	6170	971	34	3	410	3	GABRE	23	151123859	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31581	151123859	4146701	9181	30106											
MAGEA1	4100	broad.mit.edu	37	chrX	152482197	152482197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcacatagctggtttcagCgagggcccttggaccccaca	8	10	10	13	1	2	0	2	0	0	0	2	2	2	1	3	3	2	2	3	3	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:152482197C>T	ENST00000356661.5	-	3	1032	c.814G>A	c.(814-816)Gct>Act	p.A272T		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	272	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGTTTCAGCGAGGGCCCTT	0.537																																						ENST00000356661.5																			0				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(814-816)Gct>Act		melanoma antigen family A, 1 (directs expression of antigen MZ2-E)							127	121	123					X																	152482197		2203	4300	6503	SO:0001583	missense	4100					cytoplasm|plasma membrane		g.chrX:152482197C>T		CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"melanoma-associated antigen 1", "melanoma-associated antigen MZ2-E", "melanoma antigen MAGE-1", "melanoma antigen family A 1", "cancer/testis antigen family 1, member 1"	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.814G>A	X.37:g.152482197C>T	ENSP00000349085:p.Ala272Thr						p.A272T	NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN			3	1032	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		272			MAGE.		B2RC81|O00346	Missense_Mutation	SNP	ENST00000356661.5	37	c.814G>A	CCDS14720.1	.	.	.	.	.	.	.	.	.	.	C	7.137	0.581105	0.13686	.	.	ENSG00000198681	ENST00000356661	T	0.05319	3.46	1.28	0.297	0.15762	.	1.045490	0.07457	N	0.899934	T	0.10637	0.0260	M	0.81497	2.545	0.09310	N	1	B	0.13594	0.008	B	0.11329	0.006	T	0.35126	-0.9801	10	0.49607	T	0.09	.	5.9974	0.19501	0.0:0.7751:0.0:0.2249	.	272	P43355	MAGA1_HUMAN	T	272	ENSP00000349085:A272T	ENSP00000349085:A272T	A	-	1	0	MAGEA1	152135391	0.001000	0.12720	0.127000	0.21898	0.024000	0.10985	-1.032000	0.03574	-0.377000	0.07930	-1.085000	0.02201	GCT		0.537	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988		9	78	0	0	0	1	0	9	78					T	152482197	C	T	152482197	3	4	435	1	0	0	0	0	1	0	0	0	9163	768	27	1	119	1	MAGEA1	23	152482197	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1358338	152482197	2788363	9182	30107											
ATP2B3	492	broad.mit.edu	37	chrX	152807867	152807867	+	Missense_Mutation	SNP	G	G	A																															tgacgggcgagtctgaccacGtgcgcaagtcagctgacaaa																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:152807867G>A	ENST00000349466.2	+	5	1077	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	ATP2B3_ENST00000359149.3_Missense_Mutation_p.V251M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.V251M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.V251M|ATP2B3_ENST00000370181.2_Missense_Mutation_p.V251M|ATP2B3_ENST00000370186.1_Missense_Mutation_p.V251M			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	251					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCTGACCACGTGCGCAAGTC	0.662																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(751-753)Gtg>Atg		ATPase, Ca++ transporting, plasma membrane 3							92	64	73					X																	152807867		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152807867G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.751G>A	X.37:g.152807867G>A	ENSP00000343886:p.Val251Met					ATP2B3_ENST00000370181.2_Missense_Mutation_p.V251M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.V251M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.V251M|ATP2B3_ENST00000349466.2_Missense_Mutation_p.V251M|ATP2B3_ENST00000359149.3_Missense_Mutation_p.V251M	p.V251M			Q16720	AT2B3_HUMAN			5	1077	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		251					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.751G>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063686	0.93898	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	5.45	5.45	0.79879	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.066613	0.64402	D	0.000015	D	0.96781	0.8949	M	0.86097	2.795	0.54753	D	0.999983	D;D	0.76494	0.993;0.999	P;D	0.67725	0.89;0.953	D	0.97306	0.9934	10	0.66056	D	0.02	-9.7797	16.9818	0.86329	0.0:0.0:1.0:0.0	.	251;251	Q16720;Q16720-2	AT2B3_HUMAN;.	M	251	ENSP00000359205:V251M;ENSP00000343886:V251M;ENSP00000377425:V251M;ENSP00000352062:V251M;ENSP00000263519:V251M;ENSP00000359200:V251M	ENSP00000263519:V251M	V	+	1	0	ATP2B3	152461061	1.000000	0.71417	0.997000	0.53966	0.573000	0.36030	9.813000	0.99286	2.273000	0.75805	0.513000	0.50165	GTG		0.662	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		7	2	0	0	0	1	0	7	2					A	152807867	G	A	152807867	3	1	435	1	0	0	0	0	1	0	0	0	1141	1145	40	1	765	1	ATP2B3	23	152807867	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	325670	152807867	2462693	9183	30108	143	2									
ATP2B3	492	broad.mit.edu	37	chrX	152807870	152807870	+	Missense_Mutation	SNP	C	C	T																															cgggcgagtctgaccacgtgCgcaagtcagctgacaaagat																								rs373144811		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:152807870C>T	ENST00000349466.2	+	5	1080	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	ATP2B3_ENST00000359149.3_Missense_Mutation_p.R252C|ATP2B3_ENST00000393842.1_Missense_Mutation_p.R252C|ATP2B3_ENST00000263519.4_Missense_Mutation_p.R252C|ATP2B3_ENST00000370181.2_Missense_Mutation_p.R252C|ATP2B3_ENST00000370186.1_Missense_Mutation_p.R252C			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	252					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGACCACGTGCGCAAGTCAGC	0.657																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(754-756)Cgc>Tgc		ATPase, Ca++ transporting, plasma membrane 3		C	CYS/ARG,CYS/ARG	0,3835		0,0,1632,571	93	64	74		754,754	5.4	1	X		74	1,6727		0,1,2427,1872	no	missense,missense	ATP2B3	NM_001001344.2,NM_021949.3	180,180	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging	252/1221,252/1174	152807870	1,10562	2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152807870C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.754C>T	X.37:g.152807870C>T	ENSP00000343886:p.Arg252Cys					ATP2B3_ENST00000370181.2_Missense_Mutation_p.R252C|ATP2B3_ENST00000263519.4_Missense_Mutation_p.R252C|ATP2B3_ENST00000393842.1_Missense_Mutation_p.R252C|ATP2B3_ENST00000349466.2_Missense_Mutation_p.R252C|ATP2B3_ENST00000359149.3_Missense_Mutation_p.R252C	p.R252C			Q16720	AT2B3_HUMAN			5	1080	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		252					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.754C>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755304	0.69648	0.0	1.49E-4	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.45	5.45	0.79879	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.184234	0.47852	D	0.000210	D	0.88644	0.6492	L	0.57130	1.785	0.49582	D	0.999803	P;B	0.43314	0.803;0.432	B;B	0.37015	0.239;0.153	D	0.89963	0.4088	10	0.62326	D	0.03	-1.2872	16.9818	0.86329	0.0:1.0:0.0:0.0	.	252;252	Q16720;Q16720-2	AT2B3_HUMAN;.	C	252	ENSP00000359205:R252C;ENSP00000343886:R252C;ENSP00000377425:R252C;ENSP00000352062:R252C;ENSP00000263519:R252C;ENSP00000359200:R252C	ENSP00000263519:R252C	R	+	1	0	ATP2B3	152461064	0.001000	0.12720	1.000000	0.80357	0.661000	0.39034	0.570000	0.23653	2.273000	0.75805	0.513000	0.50165	CGC		0.657	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		7	3	0	0	0	1	0	7	3					T	152807870	C	T	152807870	3	4	435	1	0	0	0	0	1	0	0	0	1141	768	27	1	768	1	ATP2B3	23	152807870	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3	152807870	2462690	9184	30109	143	2									
ATP2B3	492	broad.mit.edu	37	chrX	152815021	152815021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccatgggcaacgccacaGccatctgctccgacaagacg	12	4	10	15	3	1	2	0	0	1	2	2	3	2	2	4	1	3	2	4	1	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:152815021G>T	ENST00000349466.2	+	10	1731	c.1405G>T	c.(1405-1407)Gcc>Tcc	p.A469S	ATP2B3_ENST00000359149.3_Missense_Mutation_p.A469S|ATP2B3_ENST00000393842.1_Missense_Mutation_p.A455S|ATP2B3_ENST00000263519.4_Missense_Mutation_p.A469S|ATP2B3_ENST00000370181.2_Missense_Mutation_p.A455S|ATP2B3_ENST00000370186.1_Missense_Mutation_p.A455S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	469					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAACGCCACAGCCATCTGCTC	0.592																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(1363-1365)Gcc>Tcc		ATPase, Ca++ transporting, plasma membrane 3							185	143	157					X																	152815021		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152815021G>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1405G>T	X.37:g.152815021G>T	ENSP00000343886:p.Ala469Ser					ATP2B3_ENST00000370181.2_Missense_Mutation_p.A455S|ATP2B3_ENST00000263519.4_Missense_Mutation_p.A469S|ATP2B3_ENST00000393842.1_Missense_Mutation_p.A455S|ATP2B3_ENST00000349466.2_Missense_Mutation_p.A469S|ATP2B3_ENST00000359149.3_Missense_Mutation_p.A469S	p.A455S			Q16720	AT2B3_HUMAN			9	1689	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		469					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.1363G>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	g	17.61	3.431920	0.62844	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1;-4.1	4.83	4.83	0.62350	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.93229	0.7843	L	0.31752	0.955	0.58432	D	0.999997	B;B	0.21821	0.061;0.049	B;B	0.26310	0.068;0.04	D	0.90819	0.4707	10	0.44086	T	0.13	-30.0095	15.8646	0.79055	0.0:0.0:1.0:0.0	.	469;469	Q16720;Q16720-2	AT2B3_HUMAN;.	S	455;469;455;469;469;455	ENSP00000359205:A455S;ENSP00000343886:A469S;ENSP00000377425:A455S;ENSP00000352062:A469S;ENSP00000263519:A469S;ENSP00000359200:A455S	ENSP00000263519:A469S	A	+	1	0	ATP2B3	152468215	1.000000	0.71417	0.980000	0.43619	0.912000	0.54170	7.971000	0.88012	1.991000	0.58162	0.525000	0.51046	GCC		0.592	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		18	7	1	0	1.99824e-07	1	2.09433e-07	18	7					T	152815021	G	T	152815021	3	4	435	1	0	0	0	0	1	0	0	0	1141	971	34	5	1439	5	ATP2B3	23	152815021	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7151	152815021	2455539	9185	30110											
ATP2B3	492	broad.mit.edu	37	chrX	152815040	152815040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatctgctccgacaagaCgggcacgctcaccaccaacc	11	4	8	18	3	2	1	1	0	1	1	3	2	3	1	5	1	3	3	5	1	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:152815040C>T	ENST00000349466.2	+	10	1750	c.1424C>T	c.(1423-1425)aCg>aTg	p.T475M	ATP2B3_ENST00000359149.3_Missense_Mutation_p.T475M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.T461M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.T475M|ATP2B3_ENST00000370181.2_Missense_Mutation_p.T461M|ATP2B3_ENST00000370186.1_Missense_Mutation_p.T461M			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	475					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGACAAGACGGGCACGCTC	0.592																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(1381-1383)aCg>aTg		ATPase, Ca++ transporting, plasma membrane 3							180	139	153					X																	152815040		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152815040C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1424C>T	X.37:g.152815040C>T	ENSP00000343886:p.Thr475Met					ATP2B3_ENST00000370181.2_Missense_Mutation_p.T461M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.T475M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.T461M|ATP2B3_ENST00000349466.2_Missense_Mutation_p.T475M|ATP2B3_ENST00000359149.3_Missense_Mutation_p.T475M	p.T461M			Q16720	AT2B3_HUMAN			9	1708	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		475					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.1382C>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	c	23.6	4.435671	0.83885	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.59;-4.59;-4.59	4.89	4.89	0.63831	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.99423	0.9796	H	0.99800	4.79	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.97844	1.0270	10	0.87932	D	0	-18.1925	15.992	0.80214	0.0:1.0:0.0:0.0	.	475;475	Q16720;Q16720-2	AT2B3_HUMAN;.	M	461;475;461;475;475;461	ENSP00000359205:T461M;ENSP00000343886:T475M;ENSP00000377425:T461M;ENSP00000352062:T475M;ENSP00000263519:T475M;ENSP00000359200:T461M	ENSP00000263519:T475M	T	+	2	0	ATP2B3	152468234	1.000000	0.71417	0.994000	0.49952	0.854000	0.48673	7.781000	0.85668	2.023000	0.59567	0.525000	0.51046	ACG		0.592	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		5	19	0	0	0	1	0	5	19					T	152815040	C	T	152815040	3	4	435	1	0	0	0	0	1	0	0	0	1141	536	19	1	1458	1	ATP2B3	23	152815040	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19	152815040	2455520	9186	30111											
ABCD1	215	broad.mit.edu	37	chrX	153001621	153001621	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggaggagctggtgagCgagcgcacagaagccttcac	12	4	16	9	2	1	2	1	1	0	1	1	6	1	5	1	4	4	2	1	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153001621C>T	ENST00000218104.3	+	3	1536	c.1137C>T	c.(1135-1137)agC>agT	p.S379S	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	379	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGGTGAGCGAGCGCACAG	0.632																																						ENST00000218104.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(1135-1137)agC>agT		ATP-binding cassette, sub-family D (ALD), member 1							112	103	106					X																	153001621		2203	4300	6503	SO:0001819	synonymous_variant	215				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	g.chrX:153001621C>T	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1137C>T	X.37:g.153001621C>T						U52111.14_ENST00000434284.1_RNA	p.S379S	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN			3	1536	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		379			ABC transmembrane type-1.		Q6GTZ2	Silent	SNP	ENST00000218104.3	37	c.1137C>T	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	C	9.654	1.142213	0.21205	.	.	ENSG00000101986	ENST00000443684	.	.	.	4.85	-1.12	0.09808	.	.	.	.	.	T	0.57431	0.2053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50499	-0.8821	4	.	.	.	-21.0106	10.8323	0.46667	0.0:0.7382:0.0:0.2618	.	.	.	.	V	47	.	.	A	+	2	0	ABCD1	152654815	0.043000	0.20138	0.945000	0.38365	0.897000	0.52465	-0.995000	0.03712	-0.710000	0.05001	-0.407000	0.06327	GCG		0.632	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		17	3	0	0	0	1	0	17	3					T	153001621	C	T	153001621	2	4	435	1	0	0	0	0	0	0	0	1	60	767	27	1		1	ABCD1	23	153001621	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	186581	153001621	2268939	9187	30112											
PLXNB3	5365	broad.mit.edu	37	chrX	153035310	153035310	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaggccagctgaaccagtgGctgtggagttatgaggagga	10	7	17	7	0	0	2	0	2	0	0	0	5	0	5	2	5	2	4	2	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153035310G>A	ENST00000361971.5	+	7	1659	c.1545G>A	c.(1543-1545)tgG>tgA	p.W515*	PLXNB3_ENST00000538776.1_Nonsense_Mutation_p.W168*|PLXNB3_ENST00000538282.1_Nonsense_Mutation_p.W125*|PLXNB3_ENST00000538966.1_Nonsense_Mutation_p.W538*|PLXNB3_ENST00000538543.1_Nonsense_Mutation_p.W65*	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	515	PSI 1.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGAACCAGTGGCTGTGGAGTT	0.677																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1612-1614)tgG>tgA		plexin B3							18	16	17					X																	153035310		2172	4265	6437	SO:0001587	stop_gained	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153035310G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1545G>A	X.37:g.153035310G>A	ENSP00000355378:p.Trp515*					PLXNB3_ENST00000538282.1_Nonsense_Mutation_p.W125*|PLXNB3_ENST00000361971.5_Nonsense_Mutation_p.W515*|PLXNB3_ENST00000538776.1_Nonsense_Mutation_p.W168*|PLXNB3_ENST00000538543.1_Nonsense_Mutation_p.W65*	p.W538*	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			8	1885	+	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)		515					B7Z3E6|F5H773|Q9HDA4	Nonsense_Mutation	SNP	ENST00000361971.5	37	c.1614G>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656329	0.88056	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538543;ENST00000538282	.	.	.	4.95	4.95	0.65309	.	0.251825	0.43260	D	0.000592	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9555	0.41663	0.0:0.0:0.7977:0.2023	.	.	.	.	X	538;515;168;65;125	.	ENSP00000355378:W515X	W	+	3	0	PLXNB3	152688504	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	4.584000	0.60971	2.025000	0.59659	0.600000	0.82982	TGG		0.677	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			11	3	0	0	0	1	0	11	3					A	153035310	G	A	153035310	4	1	435	1	0	0	0	0	0	1	0	0	12125	1212	42	3	1685	3	PLXNB3	23	153035310	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33689	153035310	2235250	9188	30113											
PLXNB3	5365	broad.mit.edu	37	chrX	153043066	153043066	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccatcgccgtcaagtacctGtttgaccttctggatgagct	7	12	9	13	2	2	2	1	2	1	0	3	3	2	3	4	1	2	3	4	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153043066G>A	ENST00000361971.5	+	31	5298	c.5184G>A	c.(5182-5184)ctG>ctA	p.L1728L	SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538776.1_Silent_p.L1381L|PLXNB3_ENST00000538966.1_Silent_p.L1751L|PLXNB3_ENST00000485980.1_3'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1728					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCAAGTACCTGTTTGACCTTC	0.602																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(5251-5253)ctG>ctA		plexin B3							209	158	175					X																	153043066		2203	4300	6503	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153043066G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.5184G>A	X.37:g.153043066G>A						PLXNB3_ENST00000361971.5_Silent_p.L1728L|PLXNB3_ENST00000538776.1_Silent_p.L1381L|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000485980.1_3'UTR	p.L1751L	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			32	5524	+	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)		1728					B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.5253G>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	1.434	-0.569454	0.03910	.	.	ENSG00000198753	ENST00000448847	.	.	.	4.7	2.85	0.33270	.	.	.	.	.	T	0.43919	0.1269	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33828	-0.9853	4	.	.	.	.	1.7654	0.03001	0.2066:0.157:0.4737:0.1627	.	.	.	.	Y	32	.	.	C	+	2	0	PLXNB3	152696260	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	0.996000	0.29719	0.874000	0.35823	0.529000	0.55759	TGT		0.602	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			47	5	0	0	0	1	0	47	5					A	153043066	G	A	153043066	2	1	435	1	0	0	0	0	0	0	0	1	12125	1364	48	3		3	PLXNB3	23	153043066	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7756	153043066	2227494	9189	30114											
L1CAM	3897	broad.mit.edu	37	chrX	153137794	153137794	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtttgaagtggacaccatcCctcgtccagcggaacctgtg	8	9	12	12	2	0	1	0	1	0	0	3	3	2	3	4	3	2	1	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153137794C>T	ENST00000370060.1	-	5	402	c.213G>A	c.(211-213)agG>agA	p.R71R	L1CAM_ENST00000370055.1_Silent_p.R66R|L1CAM_ENST00000370057.3_Silent_p.R71R|L1CAM_ENST00000361981.3_Silent_p.R66R|L1CAM_ENST00000543994.1_Silent_p.R73R|L1CAM_ENST00000361699.4_Silent_p.R71R|L1CAM_ENST00000538883.1_Silent_p.R73R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	71	Ig-like C2-type 1.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACACCATCCCTCGTCCAGC	0.617																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(211-213)agG>agA		L1 cell adhesion molecule							82	68	73					X																	153137794		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153137794C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.213G>A	X.37:g.153137794C>T						L1CAM_ENST00000538883.1_Silent_p.R73R|L1CAM_ENST00000543994.1_Silent_p.R73R|L1CAM_ENST00000370055.1_Silent_p.R66R|L1CAM_ENST00000370057.3_Silent_p.R71R|L1CAM_ENST00000361981.3_Silent_p.R66R|L1CAM_ENST00000361699.4_Silent_p.R71R	p.R71R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			5	402	-	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)		71			Ig-like C2-type 1.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.213G>A	CCDS14733.1																																																																																				0.617	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		10	3	0	0	0	1	0	10	3					T	153137794	C	T	153137794	2	4	435	1	0	0	0	0	0	0	0	1	8588	622	22	3		3	L1CAM	23	153137794	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	94728	153137794	2132766	9190	30115											
HCFC1	3054	broad.mit.edu	37	chrX	153216313	153216313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaaaccaggcaggcacGtcttaaaggctgagatttcg	11	8	13	9	2	1	1	0	1	1	1	2	3	1	2	1	4	1	3	1	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153216313G>A	ENST00000310441.7	-	23	6620	c.5654C>T	c.(5653-5655)aCg>aTg	p.T1885M	HCFC1_ENST00000354233.3_Missense_Mutation_p.T1816M|HCFC1_ENST00000369984.4_Missense_Mutation_p.T1930M	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1885	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGCAGGCACGTCTTAAAGGC	0.572																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(5653-5655)aCg>aTg		host cell factor C1 (VP16-accessory protein)							106	115	112					X																	153216313		1939	4114	6053	SO:0001583	missense	3054				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	g.chrX:153216313G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5654C>T	X.37:g.153216313G>A	ENSP00000309555:p.Thr1885Met					HCFC1_ENST00000369984.4_Missense_Mutation_p.T1930M|HCFC1_ENST00000354233.3_Missense_Mutation_p.T1816M	p.T1885M	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			23	6620	-	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)		1885					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.5654C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067141	0.93898	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.64991	-0.13;-0.13;-0.13	5.64	5.64	0.86602	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83376	0.5241	M	0.90759	3.145	0.50467	D	0.999874	D	0.89917	1.0	D	0.85130	0.997	D	0.86888	0.2046	10	0.87932	D	0	.	17.4869	0.87691	0.0:0.0:1.0:0.0	.	1885	P51610	HCFC1_HUMAN	M	1885;1930;1816	ENSP00000309555:T1885M;ENSP00000359001:T1930M;ENSP00000346174:T1816M	ENSP00000309555:T1885M	T	-	2	0	HCFC1	152869507	1.000000	0.71417	0.939000	0.37840	0.915000	0.54546	9.469000	0.97679	2.399000	0.81585	0.521000	0.50471	ACG		0.572	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		56	18	0	0	0	1	0	56	18					A	153216313	G	A	153216313	3	1	435	1	0	0	0	0	1	0	0	0	6991	1145	40	1	469	1	HCFC1	23	153216313	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	78519	153216313	2054247	9191	30116											
HCFC1	3054	broad.mit.edu	37	chrX	153220570	153220570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggccatgttggaggtggCggtggtggcggtgttggtgg	2	10	22	7	3	0	0	0	0	0	0	0	1	0	1	2	10	0	2	2	10	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153220570C>T	ENST00000310441.7	-	17	4246	c.3280G>A	c.(3280-3282)Gcc>Acc	p.A1094T	HCFC1_ENST00000354233.3_Missense_Mutation_p.A1025T|HCFC1_ENST00000369984.4_Missense_Mutation_p.A1094T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1094					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					Ttggaggtggcggtggtggcg	0.652																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3280-3282)Gcc>Acc		host cell factor C1 (VP16-accessory protein)							34	42	40					X																	153220570		2170	4257	6427	SO:0001583	missense	3054				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	g.chrX:153220570C>T		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3280G>A	X.37:g.153220570C>T	ENSP00000309555:p.Ala1094Thr					HCFC1_ENST00000369984.4_Missense_Mutation_p.A1094T|HCFC1_ENST00000354233.3_Missense_Mutation_p.A1025T	p.A1094T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			17	4246	-	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)		1094					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.3280G>A	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.022042	0.75275	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.08458	3.23;3.18;3.09	4.9	4.9	0.64082	.	0.166532	0.52532	D	0.000078	T	0.07052	0.0179	L	0.47190	1.495	0.43628	D	0.996015	P	0.46912	0.886	B	0.29663	0.105	T	0.43163	-0.9408	10	0.22706	T	0.39	.	15.9967	0.80256	0.0:1.0:0.0:0.0	.	1094	P51610	HCFC1_HUMAN	T	1094;1094;1025	ENSP00000309555:A1094T;ENSP00000359001:A1094T;ENSP00000346174:A1025T	ENSP00000309555:A1094T	A	-	1	0	HCFC1	152873764	0.581000	0.26741	0.993000	0.49108	0.946000	0.59487	2.039000	0.41193	2.024000	0.59613	0.525000	0.51046	GCC		0.652	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		19	3	0	0	0	1	0	19	3					T	153220570	C	T	153220570	3	4	435	1	0	0	0	0	1	0	0	0	6991	768	27	1	2867	1	HCFC1	23	153220570	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4257	153220570	2049990	9192	30117											
TMEM187	8269	broad.mit.edu	37	chrX	153248052	153248052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctgtggggcaggcgctgcGcacccacaggcactatggca	7	5	15	14	3	0	0	0	0	0	0	0	0	0	0	1	5	1	6	1	5	1	1	rs141589321		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153248052G>A	ENST00000369982.4	+	2	1286	c.539G>A	c.(538-540)cGc>cAc	p.R180H	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	180						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	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)					CAGGCGCTGCGCACCCACAGG	0.637																																						ENST00000369982.4																			0				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5						c.(538-540)cGc>cAc		transmembrane protein 187		G	HIS/ARG	1,3834		0,1,1631,571	57	42	47		539	0.2	0	X	dbSNP_134	47	0,6728		0,0,2428,1872	no	missense	TMEM187	NM_003492.2	29	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	possibly-damaging	180/262	153248052	1,10562	2203	4300	6503	SO:0001583	missense	8269					integral to membrane|transport vesicle		g.chrX:153248052G>A	X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"chromosome X open reading frame 12"	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.539G>A	X.37:g.153248052G>A	ENSP00000358999:p.Arg180His						p.R180H	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN			2	1286	+	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)		180					B2RC47|Q6IAV7	Missense_Mutation	SNP	ENST00000369982.4	37	c.539G>A	CCDS14739.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566518	0.28003	2.61E-4	0.0	ENSG00000177854	ENST00000369982	T	0.25085	1.82	4.65	0.228	0.15364	.	0.570788	0.12951	N	0.425802	T	0.22936	0.0554	L	0.55103	1.725	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.21930	-1.0231	10	0.40728	T	0.16	.	9.4667	0.38817	0.4607:0.0:0.5393:0.0	.	180	Q14656	TM187_HUMAN	H	180	ENSP00000358999:R180H	ENSP00000358999:R180H	R	+	2	0	TMEM187	152901246	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.329000	0.19698	0.001000	0.14605	-0.409000	0.06214	CGC		0.637	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	NM_003492		14	2	0	0	0	1	0	14	2					A	153248052	G	A	153248052	3	1	435	1	0	0	0	0	1	0	0	0	16106	1087	38	1	541	1	TMEM187	23	153248052	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27482	153248052	2022508	9193	30118											
MECP2	4204	broad.mit.edu	37	chrX	153297982	153297982	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtccttgaggccctggAggtcctggtcttctgacttt	3	16	12	10	0	2	2	0	2	2	0	4	3	4	3	3	4	0	1	3	4	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153297982A>G	ENST00000303391.6	-	3	302	c.53T>C	c.(52-54)cTc>cCc	p.L18P	MECP2_ENST00000460227.1_5'UTR|MECP2_ENST00000453960.2_Missense_Mutation_p.L30P|MECP2_ENST00000407218.1_Missense_Mutation_p.L18P	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	18					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCCCTGGAGGTCCTGGTC	0.478																																						ENST00000303391.6																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(52-54)cTc>cCc		methyl CpG binding protein 2 (Rett syndrome)							92	93	93					X																	153297982		2198	4290	6488	SO:0001583	missense	4204				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	g.chrX:153297982A>G	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.53T>C	X.37:g.153297982A>G	ENSP00000301948:p.Leu18Pro					MECP2_ENST00000407218.1_Missense_Mutation_p.L18P|MECP2_ENST00000480620.1_5'UTR|MECP2_ENST00000453960.2_Missense_Mutation_p.L30P	p.L18P	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN			3	302	-	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)		18					O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	c.53T>C	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.451451	0.63290	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964;ENST00000407218;ENST00000415944	D;D;D;D	0.98849	-3.2;-2.85;-5.18;-2.56	5.65	4.48	0.54585	.	0.146450	0.47852	D	0.000205	D	0.97888	0.9306	L	0.27053	0.805	0.58432	D	0.999999	P;D	0.65815	0.518;0.995	B;D	0.72982	0.146;0.979	D	0.97590	1.0116	10	0.72032	D	0.01	-20.7792	9.9109	0.41406	0.9176:0.0:0.0824:0.0	.	30;18	P51608-2;P51608	.;MECP2_HUMAN	P	18;18;30;18;18;18	ENSP00000301948:L18P;ENSP00000395535:L30P;ENSP00000384865:L18P;ENSP00000416267:L18P	ENSP00000301948:L18P	L	-	2	0	MECP2	152951176	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	3.140000	0.50585	0.773000	0.33404	0.430000	0.28490	CTC		0.478	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		36	9	0	0	0	1	0	36	9					G	153297982	A	G	153297982	3	3	435	1	0	0	0	0	1	0	0	0	9423	304	11	4	1415	4	MECP2	23	153297982	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	49930	153297982	1972578	9194	30119											
TKTL1	8277	broad.mit.edu	37	chrX	153524218	153524218	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggggttggactaatggcGgatgctgaggcgagggctga	10	7	19	5	2	0	2	0	2	0	0	0	5	0	4	0	7	1	3	0	7	2	2	rs150445227	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153524218G>A	ENST00000369915.3	+	1	195	c.6G>A	c.(4-6)gcG>gcA	p.A2A	TKTL1_ENST00000217905.7_5'UTR|TEX28_ENST00000369926.1_5'Flank	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	2					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GACTAATGGCGGATGCTGAGG	0.597													G|||	4	0.0010596	0.0023	0.0014	3775	,	,		11769	0		0	False		,,,				2504	0					ENST00000369915.3																			0				NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34						c.(4-6)gcG>gcA		transketolase-like 1		G	,	4,3831		0,3,1,1629,570	82	73	76		6,6	-7.6	0	X	dbSNP_134	76	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous	TKTL1	NM_001145933.1,NM_012253.3	,	0,3,1,4057,2442	AA,AG,A,GG,G		0.0,0.1043,0.0379	,	2/591,2/597	153524218	4,10559	2203	4300	6503	SO:0001819	synonymous_variant	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153524218G>A	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.6G>A	X.37:g.153524218G>A						TKTL1_ENST00000217905.7_5'UTR	p.A2A	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN			1	195	+	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)		2					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Silent	SNP	ENST00000369915.3	37	c.6G>A	CCDS35448.1																																																																																				0.597	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		8	17	0	0	0	1	0	8	17					A	153524218	G	A	153524218	2	1	435	1	0	0	0	0	0	0	0	1	15932	1103	39	2		2	TKTL1	23	153524218	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	226236	153524218	1746342	9195	30120											
TAZ	6901	broad.mit.edu	37	chrX	153647888	153647888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttttccttgcaggagatgGcgtctaccagaaggggatgg	8	10	14	9	1	1	2	0	0	1	2	2	4	2	3	3	5	2	1	3	5	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153647888G>A	ENST00000350743.4	+	5	666	c.377G>A	c.(376-378)gGc>gAc	p.G126D	TAZ_ENST00000351413.4_Missense_Mutation_p.G156D|TAZ_ENST00000369790.4_Missense_Mutation_p.G126D|TAZ_ENST00000299328.5_Missense_Mutation_p.G156D|TAZ_ENST00000475699.1_Intron|TAZ_ENST00000369776.4_Missense_Mutation_p.G101D	NM_181311.2	NP_851828.1	Q9GZV5	WWTR1_HUMAN	tafazzin	0	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGGAGATGGCGTCTACCAG	0.542																																						ENST00000299328.5																			0				lung(1)	1						c.(466-468)gGc>gAc		tafazzin							103	83	89					X																	153647888		2203	4300	6503	SO:0001583	missense	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153647888G>A	X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"Barth syndrome"	300394	"endocardial fibroelastosis 2", "cardiomyopathy, dilated 3A (X-linked)"	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000350743.4:c.377G>A	X.37:g.153647888G>A	ENSP00000338891:p.Gly126Asp					TAZ_ENST00000350743.4_Missense_Mutation_p.G126D|TAZ_ENST00000369776.4_Missense_Mutation_p.G101D|TAZ_ENST00000369790.4_Missense_Mutation_p.G126D|TAZ_ENST00000351413.4_Missense_Mutation_p.G156D	p.G156D	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN			6	756	+	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)		156			Hydrophilic.		D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000350743.4	37	c.467G>A	CCDS14749.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894681	0.91962	.	.	ENSG00000102125	ENST00000369790;ENST00000299328;ENST00000350743;ENST00000454722;ENST00000351413;ENST00000369776;ENST00000439735	D;D;D;D;D;D;D	0.97256	-3.24;-4.31;-3.24;-3.24;-4.31;-4.31;-3.21	5.41	4.55	0.56014	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	U	0.000000	D	0.98140	0.9386	M	0.82517	2.595	0.80722	D	1	D;D;P;P;D;B	0.71674	0.998;0.985;0.9;0.952;0.996;0.121	D;D;P;P;D;B	0.74023	0.982;0.938;0.784;0.71;0.954;0.111	D	0.98179	1.0456	10	0.62326	D	0.03	.	11.1721	0.48577	0.0919:0.0:0.9081:0.0	.	174;101;126;126;156;156	A6XNE1;Q96F92;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;.;TAZ_HUMAN	D	126;156;126;144;156;101;125	ENSP00000358805:G126D;ENSP00000299328:G156D;ENSP00000338891:G126D;ENSP00000397388:G144D;ENSP00000218246:G156D;ENSP00000358791:G101D;ENSP00000398193:G125D	ENSP00000299328:G156D	G	+	2	0	TAZ	153301082	1.000000	0.71417	0.041000	0.18516	0.670000	0.39368	8.842000	0.92136	1.072000	0.40860	0.431000	0.28591	GGC		0.542	TAZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080939.1			27	6	0	0	0	1	0	27	6					A	153647888	G	A	153647888	3	1	435	1	0	0	0	0	1	0	0	0	15593	1203	42	3	489	3	TAZ	23	153647888	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	123670	153647888	1622672	9196	30121											
GDI1	2664	broad.mit.edu	37	chrX	153669519	153669519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatggagaacggcaaggtgGtgggcgtgaagtctgaggga	10	7	19	5	2	2	3	1	2	1	1	2	5	2	4	0	6	1	1	0	6	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153669519G>A	ENST00000447750.2	+	7	1131	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	FAM50A_ENST00000393600.3_5'Flank	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	266					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGCAAGGTGGTGGGCGTGAA	0.557																																						ENST00000447750.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(796-798)Gtg>Atg		GDP dissociation inhibitor 1							159	129	139					X																	153669519		2203	4300	6503	SO:0001583	missense	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153669519G>A	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"mental retardation, X-linked 41", "mental retardation, X-linked 48", "rab GDP-dissociation inhibitor, alpha"	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.796G>A	X.37:g.153669519G>A	ENSP00000394071:p.Val266Met						p.V266M	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN			7	1131	+	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)		266					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	c.796G>A	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765141	0.69878	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	T	0.61274	0.12	5.36	5.36	0.76844	.	0.056941	0.64402	D	0.000002	T	0.66848	0.2831	M	0.76170	2.325	0.58432	D	0.999999	B	0.26483	0.15	B	0.40009	0.316	T	0.67201	-0.5730	10	0.48119	T	0.1	-18.7252	15.4234	0.75031	0.0:0.0:1.0:0.0	.	266	P31150	GDIA_HUMAN	M	266;250	ENSP00000394071:V266M	ENSP00000358756:V250M	V	+	1	0	GDI1	153322713	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.830000	0.62745	2.235000	0.73313	0.544000	0.68410	GTG		0.557	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		36	14	0	0	0	1	0	36	14					A	153669519	G	A	153669519	3	1	435	1	0	0	0	0	1	0	0	0	6320	1261	44	3	822	3	GDI1	23	153669519	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	21631	153669519	1601041	9197	30122											
PLXNA3	55558	broad.mit.edu	37	chrX	153689978	153689978	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgccctgcatcaacacCgtgagcccctcatcacccca	9	6	7	19	1	3	1	3	1	0	0	3	2	3	1	6	0	5	2	6	0	1	0	rs201950962		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153689978C>T	ENST00000369682.3	+	3	1309	c.1134C>T	c.(1132-1134)acC>acT	p.T378T		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	378	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			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)					GCATCAACACCGTGAGCCCCT	0.637													C|||	4	0.0010596	0	0	3775	,	,		14517	0.002		0	False		,,,				2504	0.002					ENST00000369682.3																			0				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						c.e3+1		plexin A3							79	79	79					X																	153689978		2184	4253	6437	SO:0001630	splice_region_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153689978C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1134+1C>T	X.37:g.153689978C>T							p.T378_splice	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			3	1309	+	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)		378			Sema.		Q5HY36	Splice_Site	SNP	ENST00000369682.3	37	c.1134_splice	CCDS14752.1																																																																																				0.637	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514	Silent	35	11	0	0	0	1	0	35	11					T	153689978	C	T	153689978	5	4	435	1	0	0	0	0	0	0	1	0	12121	666	23	2	1140	2	PLXNA3	23	153689978	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20459	153689978	1580582	9198	30123											
PLXNA3	55558	broad.mit.edu	37	chrX	153694316	153694316	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccaaggaaggaggcacccgGgtcaccatcgtgggtgacaa	11	4	14	12	2	1	1	1	1	0	0	2	3	1	3	3	5	0	1	3	5	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153694316G>A	ENST00000369682.3	+	14	2746	c.2571G>A	c.(2569-2571)cgG>cgA	p.R857R		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	857	IPT/TIG 1.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			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)					GAGGCACCCGGGTCACCATCG	0.647																																						ENST00000369682.3																			0				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						c.(2569-2571)cgG>cgA		plexin A3							59	53	55					X																	153694316		2203	4300	6503	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153694316G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2571G>A	X.37:g.153694316G>A							p.R857R	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			14	2746	+	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)		857			IPT/TIG 1.		Q5HY36	Silent	SNP	ENST00000369682.3	37	c.2571G>A	CCDS14752.1																																																																																				0.647	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		13	0	0	0	0	1	0	13	0					A	153694316	G	A	153694316	2	1	435	1	0	0	0	0	0	0	0	1	12121	1219	43	3		3	PLXNA3	23	153694316	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4338	153694316	1576244	9199	30124											
PLXNA3	55558	broad.mit.edu	37	chrX	153696474	153696474	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgactaaccacatggaCgaggtgcagatccccttcct	10	8	10	13	1	0	2	0	1	0	1	2	5	2	3	4	2	3	2	4	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153696474C>T	ENST00000369682.3	+	22	4045	c.3870C>T	c.(3868-3870)gaC>gaT	p.D1290D		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1290					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			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)					ACCACATGGACGAGGTGCAGA	0.622																																						ENST00000369682.3																			0				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						c.(3868-3870)gaC>gaT		plexin A3							138	103	115					X																	153696474		2203	4300	6503	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153696474C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3870C>T	X.37:g.153696474C>T							p.D1290D	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			22	4045	+	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)		1290					Q5HY36	Silent	SNP	ENST00000369682.3	37	c.3870C>T	CCDS14752.1																																																																																				0.622	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		21	3	0	0	0	1	0	21	3					T	153696474	C	T	153696474	2	4	435	1	0	0	0	0	0	0	0	1	12121	535	19	1		1	PLXNA3	23	153696474	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2158	153696474	1574086	9200	30125											
SPRY3	10251	broad.mit.edu	37	chrX	155003602	155003602	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctgcgctctactcatgcTagcaatgactacgtggaacg	10	9	10	12	3	2	1	1	1	1	0	2	2	2	2	0	1	7	4	0	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:155003602T>C	ENST00000302805.2	+	2	500	c.69T>C	c.(67-69)gcT>gcC	p.A23A		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	23					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						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)					CTACTCATGCTAGCAATGACT	0.483																																						ENST00000302805.2																			0											c.(67-69)gcT>gcC		sprouty homolog 3 (Drosophila)							228	221	224					X																	155003602		2203	4296	6499	SO:0001819	synonymous_variant	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155003602T>C	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"Pseudoautosomal regions / PAR2"	11271	protein-coding gene	gene with protein product	"antagonist of FGF signaling"	300531	"sprouty (Drosophila) homolog 2"			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.69T>C	X.37:g.155003602T>C							p.A23A	NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN			2	500	+	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)		23					A8K0H8	Silent	SNP	ENST00000302805.2	37	c.69T>C	CCDS14769.4																																																																																				0.483	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		58	62	0	0	0	1	0	58	62					C	155003602	T	C	155003602	2	2	435	1	0	0	0	0	0	0	0	1	15106	1509	53	4		4	SPRY3	23	155003602	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1307128	155003602	266958	9201	30126											
VAMP7	6845	broad.mit.edu	37	chrX	155169449	155169449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcactattatcatcatcatcGtatcaattgtaagtttttgt	11	19	4	7	1	5	0	5	0	0	0	6	0	5	0	0	0	0	3	0	0	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:155169449G>A	ENST00000286448.6	+	7	751	c.586G>A	c.(586-588)Gta>Ata	p.V196I	VAMP7_ENST00000460621.1_Missense_Mutation_p.V155I|VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000262640.6_Missense_Mutation_p.R173H	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	196					calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)				large_intestine(1)|lung(8)	9	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)					CATCATCATCGTATCAATTGT	0.348													G|||	4	0.000798722	0	0	5008	,	,		18004	0.001		0.001	False		,,,				2504	0.002					ENST00000286448.6																			0				large_intestine(1)|lung(8)	9						c.(586-588)Gta>Ata		vesicle-associated membrane protein 7		G	ILE/VAL,HIS/ARG,ILE/VAL	1,4405		0,1,2202	531	539	536		463,518,586	0.1	0.1	X	dbSNP_134	536	2,8590		0,2,4294	yes	missense,missense,missense	VAMP7	NM_001145149.2,NM_001185183.1,NM_005638.5	29,29,29	0,3,6496	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign,benign	155/180,173/261,196/221	155169449	3,12995	2203	4296	6499	SO:0001583	missense	6845				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	g.chrX:155169449G>A	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"Pseudoautosomal regions / PAR2", "Vesicle-associated membrane proteins"	11486	protein-coding gene	gene with protein product		300053	"synaptobrevin-like 1"	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.586G>A	X.37:g.155169449G>A	ENSP00000286448:p.Val196Ile					VAMP7_ENST00000460621.1_Missense_Mutation_p.V155I|VAMP7_ENST00000262640.6_Missense_Mutation_p.R173H|VAMP7_ENST00000479687.1_3'UTR	p.V196I	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN			7	751	+	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)		196					Q53GY7|Q7Z409|Q9H4A7	Missense_Mutation	SNP	ENST00000286448.6	37	c.586G>A	CCDS14770.4	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	0.008|0.008	-1.882337|-1.882337	0.00532|0.00532	2.27E-4|2.27E-4	2.33E-4|2.33E-4	ENSG00000124333|ENSG00000124333	ENST00000262640|ENST00000286448;ENST00000460621	T|T;T	0.21361|0.44482	2.01|0.92;0.92	2.99|2.99	0.121|0.121	0.14695|0.14695	.|Synaptobrevin (2);	3.505800|.	0.01732|.	N|.	0.028908|.	T|T	0.19725|0.19725	0.0474|0.0474	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B;B;B;B	0.06786|0.23540	0.001|0.021;0.014;0.014;0.087	B|B;B;B;B	0.01281|0.25614	0.0|0.012;0.015;0.016;0.062	T|T	0.31420|0.31420	-0.9944|-0.9944	9|8	0.59425|0.08599	D|T	0.04|0.76	.|.	6.6714|6.6714	0.23070|0.23070	0.375:0.0:0.625:0.0|0.375:0.0:0.625:0.0	.|.	173|129;157;155;196	P51809-2|B4DE96;B4DIH9;P51809-3;P51809	.|.;.;.;VAMP7_HUMAN	H|I	173|196;155	ENSP00000262640:R173H|ENSP00000286448:V196I;ENSP00000427822:V155I	ENSP00000262640:R173H|ENSP00000286448:V196I	R|V	+|+	2|1	0|0	VAMP7|VAMP7	154822643|154822643	1.000000|1.000000	0.71417|0.71417	0.147000|0.147000	0.22382|0.22382	0.082000|0.082000	0.17680|0.17680	3.336000|3.336000	0.52113|0.52113	-0.230000|-0.230000	0.09840|0.09840	-0.757000|-0.757000	0.03467|0.03467	CGT|GTA		0.348	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638		10	86	0	0	0	1	0	10	86					A	155169449	G	A	155169449	3	1	435	1	0	0	0	0	1	0	0	0	17114	1145	40	1	608	1	VAMP7	23	155169449	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	165847	155169449	101111	9202	30127											
USP9Y	8287	broad.mit.edu	37	chrY	14924838	14924838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaagtggagaactaccagCtgagcaggctattccagtct	13	8	11	9	0	1	3	0	1	1	2	2	4	2	3	2	2	4	3	2	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrY:14924838C>T	ENST00000338981.3	+	31	5405	c.4460C>T	c.(4459-4461)gCt>gTt	p.A1487V	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1487					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAACTACCAGCTGAGCAGGCT	0.403																																						ENST00000338981.3																			0				kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(4459-4461)gCt>gTt		ubiquitin specific peptidase 9, Y-linked							87	77	79					Y																	14924838		596	1951	2547	SO:0001583	missense	8287				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	g.chrY:14924838C>T	Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"Ubiquitin-specific peptidases"	12633	protein-coding gene	gene with protein product	"fat facets-like homolog (Drosophila)"	400005	"ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.4460C>T	Y.37:g.14924838C>T	ENSP00000342812:p.Ala1487Val					USP9Y_ENST00000426564.2_3'UTR	p.A1487V	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN			31	5405	+			1487					O14601	Missense_Mutation	SNP	ENST00000338981.3	37	c.4460C>T	CCDS14781.1																																																																																				0.403	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2	NM_004654		34	10	0	0	0	1	0	34	10					T	14924838	C	T	14924838	3	4	435	1	0	0	0	0	1	0	0	0	17088	797	28	3	4574	3	USP9Y	24	14924838	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08		14924838	44448728	9203	30128											
CROCC	9696	broad.mit.edu	37	chr1	17257025	17257025	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacatacgaaaggtgaccaAtgactggacacgctgccgca	13	5	12	11	3	0	2	0	2	0	0	0	5	0	4	2	3	2	2	2	3	3	1			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:17257025A>C	ENST00000375541.5	+	7	854	c.785A>C	c.(784-786)aAt>aCt	p.N262T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AAGGTGACCAATGACTGGACA	0.662																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(784-786)aAt>aCt		ciliary rootlet coiled-coil, rootletin							35	29	31					1																	17257025		2200	4299	6499	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17257025A>C	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.785A>C	1.37:g.17257025A>C	ENSP00000364691:p.Asn262Thr					CROCC_ENST00000467938.1_3'UTR	p.N262T	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		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)	7	854	+		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)	262						Missense_Mutation	SNP	ENST00000375541.5	37	c.785A>C	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	A	1.197	-0.633728	0.03584	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10382	2.88	5.21	3.32	0.38043	.	.	.	.	.	T	0.05364	0.0142	N	0.11000	0.08	0.22226	N	0.999276	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44636	-0.9315	9	0.10902	T	0.67	.	8.9362	0.35702	0.0815:0.3975:0.521:0.0	.	125;262	A1L0S8;Q5TZA2	.;CROCC_HUMAN	T	262;143	ENSP00000364691:N262T	ENSP00000364691:N262T	N	+	2	0	CROCC	17129612	0.041000	0.20044	0.785000	0.31869	0.286000	0.27126	0.528000	0.23002	0.563000	0.29222	-0.253000	0.11424	AAT		0.662	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		14	27	0	0	0	1	0	14	27					C	17257025	A	C	17257025	3	2	436	1	0	0	0	0	1	0	0	0	3893	101	4	5	811	5	CROCC	1	17257025	Missense_Mutation	SNP	A	TCGA-XK-AAJ3-01A-11D-A41K-08		17257025	231993596	1	30129											
GRIK3	2899	broad.mit.edu	37	chr1	37499667	37499667	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacgaggagcccggcccagtAttcccaaaccagactccgga	11	4	10	16	3	0	1	0	0	0	1	2	4	2	3	5	3	2	1	5	3	2	2			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:37499667A>G	ENST00000373091.3	-	1	59	c.43T>C	c.(43-45)Tac>Cac	p.Y15H	GRIK3_ENST00000373093.4_Missense_Mutation_p.Y15H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	15					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CCGGCCCAGTATTCCCAAACC	0.741																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(43-45)Tac>Cac		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						10	12	11					1																	37499667		2167	4247	6414	SO:0001583	missense	2899				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	g.chr1:37499667A>G	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.43T>C	1.37:g.37499667A>G	ENSP00000362183:p.Tyr15His					GRIK3_ENST00000373093.4_Missense_Mutation_p.Y15H	p.Y15H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			1	59	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	15					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.43T>C	CCDS416.1	.	.	.	.	.	.	.	.	.	.	A	9.102	1.004353	0.19199	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.11604	2.81;2.76	4.04	2.91	0.33838	.	0.000000	0.48767	D	0.000178	T	0.03564	0.0102	N	0.08118	0	0.34672	D	0.723821	P;P	0.42337	0.776;0.697	B;B	0.32465	0.135;0.146	T	0.48906	-0.8993	10	0.15499	T	0.54	.	6.5857	0.22620	0.8853:0.0:0.1147:0.0	.	15;15	A9Z1Z8;Q13003	.;GRIK3_HUMAN	H	15	ENSP00000362183:Y15H;ENSP00000362185:Y15H	ENSP00000362183:Y15H	Y	-	1	0	GRIK3	37272254	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.196000	0.58407	0.463000	0.27118	0.329000	0.21502	TAC		0.741	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		8	13	0	0	0	1	0	8	13					G	37499667	A	G	37499667	3	3	436	1	0	0	0	0	1	0	0	0	6775	449	16	4	2780	4	GRIK3	1	37499667	Missense_Mutation	SNP	A	TCGA-XK-AAJ3-01A-11D-A41K-08	20242642	37499667	211750954	2	30130											
SH3GLB1	51100	broad.mit.edu	37	chr1	87208814	87208814	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtattttattttgcaggtgAtcactgtgttcagtgttgtt	7	20	10	4	0	2	1	2	1	0	0	2	1	2	1	0	1	1	5	0	1	2	8			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:87208814A>G	ENST00000370558.4	+	9	1318	c.994A>G	c.(994-996)Atc>Gtc	p.I332V	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.I353V|SH3GLB1_ENST00000535010.1_Missense_Mutation_p.I232V	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	332	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			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)		TTTGCAGGTGATCACTGTGTT	0.348																																						ENST00000370558.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11						c.(994-996)Atc>Gtc		SH3-domain GRB2-like endophilin B1							159	158	158					1																	87208814		2203	4300	6503	SO:0001583	missense	51100				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding	g.chr1:87208814A>G	AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	10833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 70"	609287	"SH3-domain, GRB2-like, endophilin B1"			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.994A>G	1.37:g.87208814A>G	ENSP00000473267:p.Ile332Val					SH3GLB1_ENST00000535010.1_Missense_Mutation_p.I232V|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.I353V	p.I332V	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0414)	9	1318	+		Lung NSC(277;0.209)	332			SH3.		B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	ENST00000370558.4	37	c.994A>G	CCDS710.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.640497	0.67244	.	.	ENSG00000097033	ENST00000212369;ENST00000535010;ENST00000482504	T;T	0.56444	0.46;0.46	5.71	5.71	0.89125	Src homology-3 domain (4);	0.091794	0.64402	D	0.000001	T	0.62877	0.2464	M	0.64080	1.96	0.58432	D	0.999994	P;P;D	0.65815	0.709;0.66;0.995	B;B;D	0.70935	0.339;0.245;0.971	T	0.65475	-0.6159	10	0.52906	T	0.07	-10.4425	15.9718	0.80025	1.0:0.0:0.0:0.0	.	232;353;332	B4E182;Q9Y371-2;Q9Y371	.;.;SHLB1_HUMAN	V	332;232;353	ENSP00000441355:I232V;ENSP00000418744:I353V	ENSP00000212369:I332V	I	+	1	0	SH3GLB1	86981402	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.378000	0.79679	2.177000	0.69029	0.460000	0.39030	ATC		0.348	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009		14	23	0	0	0	1	0	14	23					G	87208814	A	G	87208814	3	3	436	1	0	0	0	0	1	0	0	0	14253	333	12	4	1028	4	SH3GLB1	1	87208814	Missense_Mutation	SNP	A	TCGA-XK-AAJ3-01A-11D-A41K-08	49709147	87208814	162041807	3	30131											
RHBG	57127	broad.mit.edu	37	chr1	156347177	156347177	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacggcttcagcagcgtgggCttcaccttcctcctggccgc	4	10	11	16	3	2	0	2	0	0	0	4	0	4	0	4	3	3	3	4	3	1	4			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:156347177C>T	ENST00000368249.1	+	2	311	c.273C>T	c.(271-273)ggC>ggT	p.G91G	RHBG_ENST00000537040.1_Intron|RHBG_ENST00000255013.3_Silent_p.G22G|RHBG_ENST00000451864.2_Silent_p.G22G|RHBG_ENST00000400992.2_Silent_p.G22G|RHBG_ENST00000368246.2_Silent_p.G91G	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	91					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GCAGCGTGGGCTTCACCTTCC	0.622																																						ENST00000400992.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(64-66)ggC>ggT		Rh family, B glycoprotein (gene/pseudogene)							122	126	125					1																	156347177		2203	4300	6503	SO:0001819	synonymous_variant	57127				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	g.chr1:156347177C>T	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.273C>T	1.37:g.156347177C>T						RHBG_ENST00000451864.2_Silent_p.G22G|RHBG_ENST00000255013.3_Silent_p.G22G|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000368249.1_Silent_p.G91G|RHBG_ENST00000368246.2_Silent_p.G91G	p.G22G			Q9H310	RHBG_HUMAN			3	434	+	Hepatocellular(266;0.158)		91					A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Silent	SNP	ENST00000368249.1	37	c.66C>T																																																																																					0.622	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		60	107	0	0	0	1	0	60	107					T	156347177	C	T	156347177	2	4	436	1	0	0	0	0	0	0	0	1	13324	784	28	3		3	RHBG	1	156347177	Silent	SNP	C	TCGA-XK-AAJ3-01A-11D-A41K-08	69138363	156347177	92903444	4	30132											
CD1C	911	broad.mit.edu	37	chr1	158261128	158261128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacctagagttgttatttcGtttctacctctttggattaa	9	18	7	7	1	2	2	0	0	2	2	3	3	2	3	2	1	1	3	2	1	4	8	rs375747674		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:158261128G>A	ENST00000368170.3	+	2	545	c.266G>A	c.(265-267)cGt>cAt	p.R89H		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	89					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TTGTTATTTCGTTTCTACCTC	0.398													G|||	1	0.000199681	0	0	5008	,	,		20499	0		0	False		,,,				2504	0.001					ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(265-267)cGt>cAt		CD1c molecule		G	HIS/ARG	1,4405		0,1,2202	111	107	108		266	-2.8	0	1		108	0,8600		0,0,4300	no	missense	CD1C	NM_001765.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	89/334	158261128	1,13005	2203	4300	6503	SO:0001583	missense	911				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	g.chr1:158261128G>A	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.266G>A	1.37:g.158261128G>A	ENSP00000357152:p.Arg89His						p.R89H	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			2	545	+	all_hematologic(112;0.0378)		89					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.266G>A	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	6.266	0.417223	0.11870	2.27E-4	0.0	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.07567	3.18	3.52	-2.83	0.05769	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.543957	0.14309	N	0.327809	T	0.01695	0.0054	L	0.33624	1.015	0.09310	N	1	B	0.17852	0.024	B	0.06405	0.002	T	0.43556	-0.9384	10	0.32370	T	0.25	.	8.5496	0.33444	0.4912:0.0:0.5088:0.0	.	89	P29017	CD1C_HUMAN	H	89	ENSP00000357152:R89H	ENSP00000357151:R89H	R	+	2	0	CD1C	156527752	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.451000	0.01006	-0.594000	0.05836	0.650000	0.86243	CGT		0.398	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		35	60	0	0	0	1	0	35	60					A	158261128	G	A	158261128	3	1	436	1	0	0	0	0	1	0	0	0	2976	1145	40	1	272	1	CD1C	1	158261128	Missense_Mutation	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08	1913951	158261128	90989493	5	30133											
OR10K1	391109	broad.mit.edu	37	chr1	158436151	158436151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcccaagactaattacaCttcaagccaagacaccctaa	17	6	5	13	0	1	2	1	0	0	2	1	2	1	2	3	1	2	0	3	1	7	4			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:158436151C>T	ENST00000289451.2	+	1	880	c.800C>T	c.(799-801)aCt>aTt	p.T267I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ACTAATTACACTTCAAGCCAA	0.413																																						ENST00000289451.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(799-801)aCt>aTt		olfactory receptor, family 10, subfamily K, member 1							178	160	166					1																	158436151		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158436151C>T	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"GPCR / Class A : Olfactory receptors"	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.800C>T	1.37:g.158436151C>T	ENSP00000289451:p.Thr267Ile						p.T267I	NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN			1	880	+	all_hematologic(112;0.0378)		267					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.800C>T	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	c	2.942	-0.218718	0.06101	.	.	ENSG00000173285	ENST00000289451	T	0.00115	8.71	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.407573	0.18148	N	0.150196	T	0.00039	0.0001	N	0.25286	0.73	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32161	-0.9917	10	0.66056	D	0.02	.	15.5475	0.76118	0.0:1.0:0.0:0.0	.	267	Q8NGX5	O10K1_HUMAN	I	267	ENSP00000289451:T267I	ENSP00000289451:T267I	T	+	2	0	OR10K1	156702775	0.000000	0.05858	0.258000	0.24420	0.024000	0.10985	0.213000	0.17521	2.160000	0.67779	0.557000	0.71058	ACT		0.413	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			49	78	0	0	0	1	0	49	78					T	158436151	C	T	158436151	3	4	436	1	0	0	0	0	1	0	0	0	10913	565	20	3	802	3	OR10K1	1	158436151	Missense_Mutation	SNP	C	TCGA-XK-AAJ3-01A-11D-A41K-08	175023	158436151	90814470	6	30134											
CDC73	79577	broad.mit.edu	37	chr1	193111116	193111116	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaggagttttgtggatgctGaggtagatgtgacccgagat	10	11	16	4	1	0	5	0	2	0	3	0	8	0	7	1	3	1	3	1	3	1	3			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:193111116G>C	ENST00000367435.3	+	7	833	c.649G>C	c.(649-651)Gag>Cag	p.E217Q		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	217	Interaction with CTNNB1.|Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TGTGGATGCTGAGGTAGATGT	0.383																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(649-651)Gag>Cag		cell division cycle 73							88	80	82					1																	193111116		2203	4300	6503	SO:0001583	missense	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193111116G>C	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.649G>C	1.37:g.193111116G>C	ENSP00000356405:p.Glu217Gln						p.E217Q	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			7	833	+			217					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.649G>C	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778160	0.90195	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.85171	-1.95	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.85708	0.5759	L	0.51422	1.61	0.80722	D	1	D	0.62365	0.991	P	0.47981	0.563	D	0.83486	0.0067	10	0.30078	T	0.28	-23.0985	20.099	0.97865	0.0:0.0:1.0:0.0	.	217	Q6P1J9	CDC73_HUMAN	Q	217	ENSP00000356405:E217Q	ENSP00000356405:E217Q	E	+	1	0	CDC73	191377739	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.623000	0.98386	2.752000	0.94435	0.655000	0.94253	GAG		0.383	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		17	39	0	0	0	1	0	17	39					C	193111116	G	C	193111116	3	2	436	1	0	0	0	0	1	0	0	0	3085	1291	45	5	675	5	CDC73	1	193111116	Missense_Mutation	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08	34674965	193111116	56139505	7	30135											
SIPA1L2	57568	broad.mit.edu	37	chr1	232650663	232650663	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatggacaaagatgtctccGattgtgtacttggcctccac	10	11	10	10	1	1	1	0	0	1	1	3	4	2	2	3	2	1	1	3	2	3	3	rs374772228	byFrequency	TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:232650663G>A	ENST00000366630.1	-	2	781	c.423C>T	c.(421-423)atC>atT	p.I141I	SIPA1L2_ENST00000262861.4_Silent_p.I141I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	141					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGATGTCTCCGATTGTGTACT	0.488													G|||	2	0.000399361	0	0.0029	5008	,	,		19922	0		0	False		,,,				2504	0					ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(421-423)atC>atT		signal-induced proliferation-associated 1 like 2							143	140	141					1																	232650663		2023	4193	6216	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650663G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.423C>T	1.37:g.232650663G>A						SIPA1L2_ENST00000262861.4_Silent_p.I141I	p.I141I			Q9P2F8	SI1L2_HUMAN			2	781	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	141					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.423C>T	CCDS41474.1																																																																																				0.488	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		7	148	0	0	0	1	0	7	148					A	232650663	G	A	232650663	2	1	436	1	0	0	0	0	0	0	0	1	14330	1048	37	2		2	SIPA1L2	1	232650663	Silent	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08	39539547	232650663	16599958	8	30136											
CLEC4F	165530	broad.mit.edu	37	chr2	71044099	71044099	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtttcccagatgatcaccGagcacctggagctgcgaatt	9	10	11	11	2	1	2	1	1	0	1	2	5	2	3	3	1	3	3	3	1	1	2			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr2:71044099G>A	ENST00000272367.2	-	4	490	c.414C>T	c.(412-414)ctC>ctT	p.L138L	CLEC4F_ENST00000426626.1_Silent_p.L138L	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	138					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GATGATCACCGAGCACCTGGA	0.453																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(412-414)ctC>ctT		C-type lectin domain family 4, member F							138	119	126					2																	71044099		2203	4300	6503	SO:0001819	synonymous_variant	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71044099G>A	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.414C>T	2.37:g.71044099G>A						CLEC4F_ENST00000426626.1_Silent_p.L138L	p.L138L	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN			4	490	-			138					A4QPA5	Silent	SNP	ENST00000272367.2	37	c.414C>T	CCDS1910.1																																																																																				0.453	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		4	112	0	0	0	1	0	4	112					A	71044099	G	A	71044099	2	1	436	1	0	0	0	0	0	0	0	1	3516	1045	37	2		2	CLEC4F	2	71044099	Silent	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08		71044099	172155274	9	30137											
CNTNAP5	129684	broad.mit.edu	37	chr2	125671720	125671720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtatcatcggcatcatgaCccggttcctctaccagcaca	9	10	7	15	2	3	1	2	1	1	0	5	1	4	1	3	2	2	4	3	2	2	3	rs115436587		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr2:125671720C>T	ENST00000431078.1	+	24	4140	c.3776C>T	c.(3775-3777)aCc>aTc	p.T1259I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1259					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGCATCATGACCCGGTTCCTC	0.453													C|||	1	0.000199681	8e-04	0	5008	,	,		18340	0		0	False		,,,				2504	0					ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(3775-3777)aCc>aTc		contactin associated protein-like 5							177	167	170					2																	125671720		1967	4177	6144	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125671720C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3776C>T	2.37:g.125671720C>T	ENSP00000399013:p.Thr1259Ile						p.T1259I	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	24	4140	+			1259					Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.3776C>T	CCDS46401.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	3.212	-0.161338	0.06502	.	.	ENSG00000155052	ENST00000431078	T	0.33438	1.41	6.14	0.0771	0.14406	.	0.745568	0.11783	N	0.529957	T	0.14313	0.0346	N	0.13352	0.335	0.32279	N	0.567827	B	0.02656	0.0	B	0.01281	0.0	T	0.41305	-0.9516	10	0.11182	T	0.66	.	7.3041	0.26436	0.0:0.4106:0.3393:0.2501	.	1259	Q8WYK1	CNTP5_HUMAN	I	1259	ENSP00000399013:T1259I	ENSP00000399013:T1259I	T	+	2	0	CNTNAP5	125388190	0.996000	0.38824	0.861000	0.33841	0.978000	0.69477	0.328000	0.19681	-0.277000	0.09193	0.637000	0.83480	ACC		0.453	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			10	103	0	0	0	1	0	10	103					T	125671720	C	T	125671720	3	4	436	1	0	0	0	0	1	0	0	0	3650	507	18	3	3870	3	CNTNAP5	2	125671720	Missense_Mutation	SNP	C	TCGA-XK-AAJ3-01A-11D-A41K-08	54627621	125671720	117527653	10	30138											
MYO3B	140469	broad.mit.edu	37	chr2	171056737	171056737	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaatgttgtaaagttttaTgggatgttttacaaagcgga	12	14	10	5	1	0	0	0	0	0	0	0	2	0	2	1	2	2	4	1	2	6	6			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr2:171056737T>A	ENST00000408978.4	+	3	407	c.264T>A	c.(262-264)taT>taA	p.Y88*	MYO3B_ENST00000334231.6_Nonsense_Mutation_p.Y97*|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Nonsense_Mutation_p.Y88*	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	88	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			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						TAAAGTTTTATGGGATGTTTT	0.433																																						ENST00000334231.6																			0				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						c.(289-291)taT>taA		myosin IIIB							107	107	107					2																	171056737		1858	4101	5959	SO:0001587	stop_gained	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171056737T>A		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.264T>A	2.37:g.171056737T>A	ENSP00000386213:p.Tyr88*					MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Nonsense_Mutation_p.Y88*|MYO3B_ENST00000408978.4_Nonsense_Mutation_p.Y88*	p.Y97*			Q8WXR4	MYO3B_HUMAN			3	291	+			88			Protein kinase.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Nonsense_Mutation	SNP	ENST00000408978.4	37	c.291T>A	CCDS42773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	37|37	5.979628|5.979628	0.97168|0.97168	.|.	.|.	ENSG00000071909|ENSG00000071909	ENST00000442690|ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	.|.	.|.	.|.	5.39|5.39	1.75|1.75	0.24633|0.24633	.|.	.|0.177525	.|0.51477	.|D	.|0.000097	T|.	0.21631|.	0.0521|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39014|.	-0.9634|.	3|.	.|0.02654	.|T	.|1	.|.	9.1348|9.1348	0.36868|0.36868	0.0:0.2707:0.0:0.7293|0.0:0.2707:0.0:0.7293	.|.	.|.	.|.	.|.	R|X	88|88;88;87;97;97	.|.	.|ENSP00000314213:Y87X	W|Y	+|+	1|3	0|2	MYO3B|MYO3B	170764983|170764983	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.885000|0.885000	0.28227|0.28227	0.119000|0.119000	0.18210|0.18210	0.460000|0.460000	0.39030|0.39030	TGG|TAT		0.433	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			15	27	0	0	0	1	0	15	27					A	171056737	T	A	171056737	4	1	436	1	0	0	0	0	0	1	0	0	10077	1471	51	5	274	5	MYO3B	2	171056737	Nonsense_Mutation	SNP	T	TCGA-XK-AAJ3-01A-11D-A41K-08	45385017	171056737	72142636	11	30139											
HECW2	57520	broad.mit.edu	37	chr2	197298104	197298104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtaccgcatctggggatttCgacgcctcacaaaaagcagg	11	8	11	11	3	2	0	1	0	1	0	3	2	2	1	2	3	2	3	2	3	3	2			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr2:197298104C>T	ENST00000260983.3	-	2	226	c.44G>A	c.(43-45)cGa>cAa	p.R15Q		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	15					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R15Q(2)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGGGGATTTCGACGCCTCAC	0.567																																						ENST00000260983.2																			2	Substitution - Missense(2)	p.R15Q(2)	large_intestine(1)|skin(1)	biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(43-45)cGa>cAa		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							72	65	67					2																	197298104		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197298104C>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.44G>A	2.37:g.197298104C>T	ENSP00000260983:p.Arg15Gln						p.R15Q	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			2	226	-			15					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.44G>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989976	0.93106	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.36157	1.27;1.4;1.4	5.27	5.27	0.74061	.	0.266376	0.32231	N	0.006397	T	0.60392	0.2265	M	0.65975	2.015	0.58432	D	0.999999	D	0.76494	0.999	D	0.72625	0.978	T	0.62062	-0.6933	10	0.72032	D	0.01	.	19.0714	0.93138	0.0:1.0:0.0:0.0	.	15	Q9P2P5	HECW2_HUMAN	Q	15	ENSP00000260983:R15Q;ENSP00000409918:R15Q;ENSP00000395770:R15Q	ENSP00000260983:R15Q	R	-	2	0	HECW2	197006349	1.000000	0.71417	0.932000	0.37286	0.934000	0.57294	5.436000	0.66538	2.736000	0.93811	0.561000	0.74099	CGA		0.567	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		11	52	0	0	0	1	0	11	52					T	197298104	C	T	197298104	3	4	436	1	0	0	0	0	1	0	0	0	7043	884	31	2	4786	2	HECW2	2	197298104	Missense_Mutation	SNP	C	TCGA-XK-AAJ3-01A-11D-A41K-08	26241367	197298104	45901269	12	30140											
SLC6A11	6538	broad.mit.edu	37	chr3	10967724	10967724	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttattgcgtaccccaaggcGgtcaccatgatgcctctctc	7	12	8	14	2	2	1	1	1	1	0	4	1	2	1	4	2	3	1	4	2	3	4	rs147839581		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr3:10967724G>A	ENST00000254488.2	+	9	1221	c.1155G>A	c.(1153-1155)gcG>gcA	p.A385A		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	385					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A385A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	ACCCCAAGGCGGTCACCATGA	0.587													g|||	1	0.000199681	0	0	5008	,	,		17193	0		0.001	False		,,,				2504	0					ENST00000254488.2																			1	Substitution - coding silent(1)	p.A385A(1)	lung(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1153-1155)gcG>gcA		solute carrier family 6 (neurotransmitter transporter), member 11		A		0,4406		0,0,2203	246	253	251		1155	-4.6	1	3	dbSNP_134	251	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SLC6A11	NM_014229.1		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		385/633	10967724	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10967724G>A	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1155G>A	3.37:g.10967724G>A							p.A385A	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	9	1221	+			385					B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	c.1155G>A	CCDS2602.1																																																																																				0.587	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		111	178	0	0	0	1	0	111	178					A	10967724	G	A	10967724	2	1	436	1	0	0	0	0	0	0	0	1	14674	1103	39	2		2	SLC6A11	3	10967724	Silent	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08		10967724	187054706	13	30141											
BSN	8927	broad.mit.edu	37	chr3	49695316	49695316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccaggcccacctgcctcCggagtctctctcacagcttg	6	9	9	17	1	2	0	1	0	2	0	5	1	3	1	5	2	3	2	5	2	1	2	rs369070758		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr3:49695316C>T	ENST00000296452.4	+	5	8441	c.8327C>T	c.(8326-8328)cCg>cTg	p.P2776L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2776					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			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)		CACCTGCCTCCGGAGTCTCTC	0.612																																						ENST00000296452.4																			0				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						c.(8326-8328)cCg>cTg		bassoon presynaptic cytomatrix protein		C	LEU/PRO	1,4405		0,1,2202	76	80	79		8327	3.9	1	3		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	BSN	NM_003458.3	98	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	2776/3927	49695316	2,13004	2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49695316C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.8327C>T	3.37:g.49695316C>T	ENSP00000296452:p.Pro2776Leu						p.P2776L	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	8441	+			2776					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.8327C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	8.406	0.843081	0.16963	2.27E-4	1.16E-4	ENSG00000164061	ENST00000296452	T	0.17691	2.26	5.68	3.9	0.45041	.	0.694969	0.14592	N	0.310216	T	0.14227	0.0344	L	0.29908	0.895	0.47341	D	0.999395	B	0.09022	0.002	B	0.04013	0.001	T	0.03193	-1.1062	10	0.52906	T	0.07	-12.0894	11.8609	0.52465	0.0:0.8595:0.0:0.1405	.	2776	Q9UPA5	BSN_HUMAN	L	2776	ENSP00000296452:P2776L	ENSP00000296452:P2776L	P	+	2	0	BSN	49670320	0.016000	0.18221	0.966000	0.40874	0.837000	0.47467	2.691000	0.47010	0.771000	0.33359	0.561000	0.74099	CCG		0.612	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		32	46	0	0	0	1	0	32	46					T	49695316	C	T	49695316	3	4	436	1	0	0	0	0	1	0	0	0	1530	652	23	2	8345	2	BSN	3	49695316	Missense_Mutation	SNP	C	TCGA-XK-AAJ3-01A-11D-A41K-08	38727592	49695316	148327114	14	30142											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; 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). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		555	Substitution - Missense(555)	p.E542K(545)|p.E542Q(10)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1624-1626)Gaa>Aaa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							56	56	56					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				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	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			18	40	0	0	0	1	0	18	40					A	178936082	G	A	178936082	3	1	436	1	0	0	0	0	1	0	0	0	11913	1291	45	3	1658	3	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08	129240766	178936082	19086348	15	30143											
BMPR1B	658	broad.mit.edu	37	chr4	96052548	96052548	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttacacacagaaatctttAgtactcaaggcaaaccagca	17	9	5	10	0	2	1	1	0	1	1	2	1	2	1	1	1	4	3	1	1	6	5			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr4:96052548A>C	ENST00000515059.1	+	10	1244	c.961A>C	c.(961-963)Agt>Cgt	p.S321R	BMPR1B_ENST00000440890.2_Missense_Mutation_p.S351R|BMPR1B_ENST00000394931.1_Missense_Mutation_p.S321R|BMPR1B_ENST00000264568.4_Missense_Mutation_p.S321R	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	321	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			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)		AGAAATCTTTAGTACTCAAGG	0.418																																						ENST00000515059.1																			0				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						c.(961-963)Agt>Cgt		bone morphogenetic protein receptor, type IB							110	101	104					4																	96052548		2203	4300	6503	SO:0001583	missense	658				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	g.chr4:96052548A>C	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"CD molecules"	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.961A>C	4.37:g.96052548A>C	ENSP00000426617:p.Ser321Arg					BMPR1B_ENST00000394931.1_Missense_Mutation_p.S321R|BMPR1B_ENST00000440890.2_Missense_Mutation_p.S351R|BMPR1B_ENST00000264568.4_Missense_Mutation_p.S321R	p.S321R	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	10	1244	+		Hepatocellular(203;0.114)	321			Protein kinase.		B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	c.961A>C	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.084781	0.55861	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22	6.06	6.06	0.98353	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043164	0.85682	D	0.000000	D	0.87684	0.6239	L	0.28192	0.835	0.53688	D	0.999971	P	0.34955	0.477	B	0.32289	0.143	D	0.87568	0.2476	10	0.87932	D	0	.	10.8727	0.46894	0.9303:0.0:0.0697:0.0	.	321	O00238	BMR1B_HUMAN	R	321;321;321;351;321;321	ENSP00000426617:S321R;ENSP00000425444:S321R;ENSP00000421671:S321R;ENSP00000401907:S351R;ENSP00000264568:S321R;ENSP00000378389:S321R	ENSP00000264568:S321R	S	+	1	0	BMPR1B	96271571	1.000000	0.71417	0.961000	0.40146	0.786000	0.44442	7.255000	0.78338	2.324000	0.78689	0.533000	0.62120	AGT		0.418	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203		40	47	0	0	0	1	0	40	47					C	96052548	A	C	96052548	3	2	436	1	0	0	0	0	1	0	0	0	1470	420	15	5	987	5	BMPR1B	4	96052548	Missense_Mutation	SNP	A	TCGA-XK-AAJ3-01A-11D-A41K-08		96052548	95101728	16	30144											
BBS7	55212	broad.mit.edu	37	chr4	122747113	122747113	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttacattggtgcctttaaActtaaatttatctatgaaaa	14	18	4	5	0	1	1	0	1	1	0	1	1	1	1	1	1	3	0	1	1	9	9			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr4:122747113A>C	ENST00000264499.4	-	19	2233	c.2050T>G	c.(2050-2052)Ttt>Gtt	p.F684V	CCNA2_ENST00000274026.5_5'Flank	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	684					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			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						GTGCCTTTAAACTTAAATTTA	0.308									Bardet-Biedl syndrome																													ENST00000264499.4																			0				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						c.(2050-2052)Ttt>Gtt		Bardet-Biedl syndrome 7							69	73	72					4																	122747113		2202	4298	6500	SO:0001583	missense	0	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	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	g.chr4:122747113A>C	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.2050T>G	4.37:g.122747113A>C	ENSP00000264499:p.Phe684Val						p.F684V	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN			19	2233	-			684					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.2050T>G	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.577666	0.86645	.	.	ENSG00000138686	ENST00000264499;ENST00000507814	T;T	0.77229	-1.08;-1.08	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.89308	0.6678	M	0.87269	2.87	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.90465	0.4449	10	0.54805	T	0.06	-14.163	16.1773	0.81862	1.0:0.0:0.0:0.0	.	684	Q8IWZ6	BBS7_HUMAN	V	684;107	ENSP00000264499:F684V;ENSP00000423250:F107V	ENSP00000264499:F684V	F	-	1	0	BBS7	122966563	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	9.193000	0.94954	2.217000	0.71921	0.482000	0.46254	TTT		0.308	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			11	23	0	0	0	1	0	11	23					C	122747113	A	C	122747113	3	2	436	1	0	0	0	0	1	0	0	0	1341	43	2	5	101	5	BBS7	4	122747113	Missense_Mutation	SNP	A	TCGA-XK-AAJ3-01A-11D-A41K-08	26694565	122747113	68407163	17	30145											
NAF1	92345	broad.mit.edu	37	chr4	164061475	164061475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttactctcaatgtgatCtgaagaattaaaccgtaaca	15	12	5	9	1	2	3	1	2	2	1	3	3	2	3	2	0	3	1	2	0	7	4			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr4:164061475C>A	ENST00000274054.2	-	5	971	c.778G>T	c.(778-780)Gat>Tat	p.D260Y	NAF1_ENST00000509434.1_5'UTR|NAF1_ENST00000422287.2_Missense_Mutation_p.D260Y	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	260					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TCAATGTGATCTGAAGAATTA	0.294																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(778-780)Gat>Tat		nuclear assembly factor 1 ribonucleoprotein							84	91	89					4																	164061475		2203	4292	6495	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164061475C>A		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.778G>T	4.37:g.164061475C>A	ENSP00000274054:p.Asp260Tyr					NAF1_ENST00000422287.2_Missense_Mutation_p.D260Y|NAF1_ENST00000509434.1_5'UTR	p.D260Y	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			5	971	-	all_hematologic(180;0.166)	Prostate(90;0.109)	260					D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.778G>T	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543608	0.86022	.	.	ENSG00000145414	ENST00000422287;ENST00000274054	T;T	0.31510	1.49;1.49	5.68	5.68	0.88126	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.416529	0.27336	N	0.019825	T	0.38665	0.1049	N	0.17800	0.525	0.53688	D	0.999977	D;D	0.57571	0.975;0.98	P;P	0.58331	0.832;0.837	T	0.16188	-1.0411	10	0.49607	T	0.09	-5.9069	18.7805	0.91930	0.0:1.0:0.0:0.0	.	260;260	E9PAZ2;Q96HR8	.;NAF1_HUMAN	Y	260	ENSP00000408963:D260Y;ENSP00000274054:D260Y	ENSP00000274054:D260Y	D	-	1	0	NAF1	164280925	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.926000	0.56491	2.693000	0.91896	0.655000	0.94253	GAT		0.294	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		57	96	1	0	3.74213e-36	1	3.8323e-36	57	96					A	164061475	C	A	164061475	3	1	436	1	0	0	0	0	1	0	0	0	10140	913	32	5	863	5	NAF1	4	164061475	Missense_Mutation	SNP	C	TCGA-XK-AAJ3-01A-11D-A41K-08	41314362	164061475	27092801	18	30146											
NPY5R	4889	broad.mit.edu	37	chr4	164271862	164271862	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtatcatatgataaaacatcCcatatctaataatttaacag	18	13	3	7	0	2	1	1	1	1	0	3	1	3	1	1	0	2	1	1	0	8	8			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr4:164271862C>G	ENST00000515560.1	+	4	1959	c.437C>G	c.(436-438)cCc>cGc	p.P146R	NPY5R_ENST00000338566.3_Missense_Mutation_p.P146R|NPY5R_ENST00000506953.1_Missense_Mutation_p.P146R			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	146					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATAAAACATCCCATATCTAAT	0.358																																					Melanoma(139;1287 1774 9781 19750 25599)	ENST00000515560.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(436-438)cCc>cGc		neuropeptide Y receptor Y5							185	188	187					4																	164271862		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271862C>G	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"GPCR / Class A : Neuropeptide receptors : Y"	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.437C>G	4.37:g.164271862C>G	ENSP00000423917:p.Pro146Arg					NPY5R_ENST00000338566.3_Missense_Mutation_p.P146R|NPY5R_ENST00000506953.1_Missense_Mutation_p.P146R	p.P146R			Q15761	NPY5R_HUMAN			4	1959	+	all_hematologic(180;0.166)	Prostate(90;0.109)	146					Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.437C>G	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780042	0.49891	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.61274	0.12;0.12;0.12	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	D	0.83362	0.5238	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88248	0.2914	10	0.87932	D	0	.	18.9152	0.92503	0.0:1.0:0.0:0.0	.	146	Q15761	NPY5R_HUMAN	R	146	ENSP00000339377:P146R;ENSP00000423917:P146R;ENSP00000423474:P146R	ENSP00000339377:P146R	P	+	2	0	NPY5R	164491312	0.997000	0.39634	0.343000	0.25615	0.853000	0.48598	4.023000	0.57211	2.533000	0.85409	0.591000	0.81541	CCC		0.358	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		77	123	0	0	0	1	0	77	123					G	164271862	C	G	164271862	3	3	436	1	0	0	0	0	1	0	0	0	10610	623	22	5	439	5	NPY5R	4	164271862	Missense_Mutation	SNP	C	TCGA-XK-AAJ3-01A-11D-A41K-08	210387	164271862	26882414	19	30147											
APC	324	broad.mit.edu	37	chr5	112151261	112151261	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagcacacactctgcacctCgaaggctgacaagtcatctg	11	8	9	13	1	3	1	1	1	2	0	4	2	3	1	1	1	2	4	1	1	3	1	rs137854568		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr5:112151261C>T	ENST00000457016.1	+	9	1284	c.904C>T	c.(904-906)Cga>Tga	p.R302*	APC_ENST00000508376.2_Nonsense_Mutation_p.R302*|APC_ENST00000257430.4_Nonsense_Mutation_p.R302*			P25054	APC_HUMAN	adenomatous polyposis coli	302	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R302*(13)		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)		CTCTGCACCTCGAAGGCTGAC	0.428		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)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		13	Substitution - Nonsense(13)	p.R302*(13)	large_intestine(13)	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	GRCh37	CM910029	APC	M	rs137854568	c.(904-906)Cga>Tga		adenomatous polyposis coli							113	100	104					5																	112151261		2202	4300	6502	SO:0001587	stop_gained	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	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	g.chr5:112151261C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.904C>T	5.37:g.112151261C>T	ENSP00000413133:p.Arg302*	TSP Lung(16;0.13)				APC_ENST00000257430.4_Nonsense_Mutation_p.R302*|APC_ENST00000508376.2_Nonsense_Mutation_p.R302*	p.R302*			P25054	APC_HUMAN		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)	9	1284	+		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)	302			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.904C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.654520	0.98901	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5148	18.9031	0.92451	0.0:1.0:0.0:0.0	.	.	.	.	X	302;284;302;302;302	.	ENSP00000257430:R302X	R	+	1	2	APC	112179160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.567000	0.60850	2.520000	0.84964	0.650000	0.86243	CGA		0.428	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		33	26	0	0	0	1	0	33	26					T	112151261	C	T	112151261	4	4	436	1	0	0	0	0	0	1	0	0	763	876	31	2	934	2	APC	5	112151261	Nonsense_Mutation	SNP	C	TCGA-XK-AAJ3-01A-11D-A41K-08		112151261	68763999	20	30148											
TNRC18	84629	broad.mit.edu	37	chr7	5352528	5352530	+	In_Frame_Del	DEL	GAG	GAG	-																															tggaggaagaagaggaggaaGaggaggaggaggaggaggat																								rs376153797		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:5352528_5352530delGAG	ENST00000430969.1	-	27	8340_8342	c.7992_7994delCTC	c.(7990-7995)tcctct>tct	p.2664_2665SS>S	TNRC18_ENST00000399537.4_In_Frame_Del_p.2664_2665SS>S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2664	Ser-rich.						chromatin binding (GO:0003682)	p.S2671delS(2)|p.P1177delP(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		agaggaggaagaggaggaggagg	0.64																																						ENST00000399537.4																			3	Deletion - In frame(3)	p.S2671delS(2)|p.P1177delP(1)	prostate(3)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(7990-7995)tct>tc		trinucleotide repeat containing 18				64,3888		3,58,1915						-4.8	0.9			7	110,7474		3,104,3685	no	coding	TNRC18	NM_001080495.2		6,162,5600	A1A1,A1R,RR		1.4504,1.6194,1.5083				174,11362				SO:0001651	inframe_deletion	84629						DNA binding	g.chr7:5352528_5352530delGAG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7992_7994delCTC	7.37:g.5352537_5352539delGAG	ENSP00000395538:p.Ser2671del					TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del	p.SS2670del			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8340_8342	-		Ovarian(82;0.142)	2670			Ser-rich.		A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	ENST00000430969.1	37	c.7992_7994delCTC	CCDS47534.1																																																																																				0.64	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				5	6						5	6	---	---	---	---	-	5352530	GAG	-	5352528	7	5	436	1	0	1	0	1	0	0	0	0	16336	942	33	0	928	0	TNRC18	7	5352528	In_Frame_Del	DEL	GAG	TCGA-XK-AAJ3-01A-11D-A41K-08		5352528	153786135	21	30149											
AGR3	155465	broad.mit.edu	37	chr7	16902255	16902255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgagagtattgacaatcctCcaggtgatgaataaccatta	14	12	8	7	0	0	4	0	4	0	1	2	5	2	4	3	1	1	1	3	1	5	5			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:16902255C>T	ENST00000310398.2	-	4	275	c.205G>A	c.(205-207)Gag>Aag	p.E69K	AGR3_ENST00000402239.3_Missense_Mutation_p.E69K	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	69						extracellular region (GO:0005576)	dystroglycan binding (GO:0002162)			central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TGACAATCCTCCAGGTGATGA	0.289																																						ENST00000310398.2																			0				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13						c.(205-207)Gag>Aag		anterior gradient 3							66	70	68					7																	16902255		2202	4296	6498	SO:0001583	missense	155465					extracellular region		g.chr7:16902255C>T	AY069977	CCDS5365.1	7p21.1	2013-07-31	2013-07-31		ENSG00000173467	ENSG00000173467		"Protein disulfide isomerases"	24167	protein-coding gene	gene with protein product	"breast cancer membrane protein 11", "protein disulfide isomerase family A, member 18"	609482	"anterior gradient 3 homolog (Xenopus laevis)"			12592373, 12477722	Standard	NM_176813		Approved	HAG3, hAG-3, BCMP11, PDIA18	uc003sts.3	Q8TD06	OTTHUMG00000128411	ENST00000310398.2:c.205G>A	7.37:g.16902255C>T	ENSP00000308606:p.Glu69Lys					AGR3_ENST00000402239.3_Missense_Mutation_p.E69K	p.E69K	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.184)	4	275	-	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)		69					A4D120	Missense_Mutation	SNP	ENST00000310398.2	37	c.205G>A	CCDS5365.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.53|19.53	3.844165|3.844165	0.71488|0.71488	.|.	.|.	ENSG00000173467|ENSG00000173467	ENST00000310398;ENST00000402239|ENST00000414935	T;T|.	0.44083|.	0.93;0.93|.	4.36|4.36	4.36|4.36	0.52297|0.52297	Thioredoxin-like fold (2);|.	0.000000|.	0.56097|.	D|.	0.000023|.	T|T	0.78130|0.78130	0.4235|0.4235	M|M	0.83483|0.83483	2.645|2.645	0.47862|0.47862	D|D	0.999539|0.999539	P|.	0.41366|.	0.747|.	B|.	0.40477|.	0.33|.	T|T	0.81302|0.81302	-0.0994|-0.0994	10|5	0.26408|.	T|.	0.33|.	-8.5475|-8.5475	16.5031|16.5031	0.84262|0.84262	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	69|.	Q8TD06|.	AGR3_HUMAN|.	K|E	69|47	ENSP00000308606:E69K;ENSP00000386016:E69K|.	ENSP00000308606:E69K|.	E|G	-|-	1|2	0|0	AGR3|AGR3	16868780|16868780	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.823000|0.823000	0.46562|0.46562	5.661000|5.661000	0.68025|0.68025	1.970000|1.970000	0.57323|0.57323	0.462000|0.462000	0.41574|0.41574	GAG|GGA		0.289	AGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250191.2	NM_176813		108	106	0	0	0	1	0	108	106					T	16902255	C	T	16902255	3	4	436	1	0	0	0	0	1	0	0	0	396	864	30	3	315	3	AGR3	7	16902255	Missense_Mutation	SNP	C	TCGA-XK-AAJ3-01A-11D-A41K-08	11549727	16902255	142236408	22	30150											
TYW1B	441250	broad.mit.edu	37	chr7	72040530	72040530	+	RNA	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctttctctgatgtcttgTgtccttgggatcaaagcttc	5	18	9	9	0	4	1	1	1	3	0	7	2	5	2	1	1	1	2	1	1	1	5			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:72040530T>G	ENST00000435769.2	-	0	2083				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TGATGTCTTGTGTCCTTGGGA	0.413																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							217	164	180					7																	72040530		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72040530T>G	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72040530T>G										Q6NUM6	TYW1B_HUMAN			0	1399	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.413	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		62	54	0	0	0	1	0	62	54					G	72040530	T	G	72040530	1	3	436	0	1	0	0	0	0	0	0	0	16816	1696	59	5		5	TYW1B	7	72040530	RNA	SNP	T	TCGA-XK-AAJ3-01A-11D-A41K-08	55138275	72040530	87098133	23	30151											
ZAN	7455	broad.mit.edu	37	chr7	100371028	100371028	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgtgctgagagctgtgAatgtcagaaaggccacatct	10	9	12	10	0	2	3	1	2	1	2	2	4	2	3	2	1	2	2	2	1	2	0			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:100371028A>G	ENST00000348028.3	+	0	5711				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)			GAGAGCTGTGAATGTCAGAAA	0.627																																						ENST00000542585.1																			0				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								zonadhesin (gene/pseudogene)							61	67	65					7																	100371028		2030	4192	6222			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100371028A>G	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100371028A>G						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5694	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	A	12.44	1.939279	0.34189	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	D;D;D	0.90844	-2.74;-2.74;-2.74	4.58	4.58	0.56647	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.000000	0.43260	D	0.000595	D	0.94538	0.8241	M	0.83483	2.645	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.973;0.984	D	0.93910	0.7196	10	0.41790	T	0.15	.	10.881	0.46937	1.0:0.0:0.0:0.0	.	1849;1849	F5H0T8;Q9Y493	.;ZAN_HUMAN	G	1849	ENSP00000445943:E1849G;ENSP00000445091:E1849G;ENSP00000444427:E1849G	ENSP00000423579:E1849G	E	+	2	0	ZAN	100208964	0.007000	0.16637	0.986000	0.45419	0.205000	0.24178	0.820000	0.27323	2.015000	0.59207	0.247000	0.18012	GAA		0.627	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		35	30	0	0	0	1	0	35	30					G	100371028	A	G	100371028	1	3	436	0	1	0	0	0	0	0	0	0	17510	246	9	4		4	ZAN	7	100371028	RNA	SNP	A	TCGA-XK-AAJ3-01A-11D-A41K-08	28330498	100371028	58767635	24	30152											
DGKI	9162	broad.mit.edu	37	chr7	137092658	137092658	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaatctccccgttgccGgttttagctgcgtagtgaag	7	13	10	11	3	2	1	1	1	1	0	3	1	2	1	3	1	3	4	3	1	4	5	rs147042344		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:137092658G>A	ENST00000288490.5	-	31	2907	c.2907C>T	c.(2905-2907)acC>acT	p.T969T	DGKI_ENST00000446122.1_Silent_p.T951T|DGKI_ENST00000424189.2_Silent_p.T982T|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000453654.2_Silent_p.T638T	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	969					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.T969T(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCCCGTTGCCGGTTTTAGCTG	0.428													G|||	1	0.000199681	0	0	5008	,	,		21219	0		0.001	False		,,,				2504	0					ENST00000453654.1																			2	Substitution - coding silent(2)	p.T969T(2)	endometrium(2)	breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1912-1914)acC>acT		diacylglycerol kinase, iota		G		1,4405	2.1+/-5.4	0,1,2202	209	178	188		2907	0	1	7	dbSNP_134	188	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DGKI	NM_004717.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		969/1066	137092658	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9162				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	g.chr7:137092658G>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2907C>T	7.37:g.137092658G>A						DGKI_ENST00000288490.5_Silent_p.T969T|DGKI_ENST00000446122.1_Silent_p.T951T|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000424189.2_Silent_p.T982T	p.T638T			O75912	DGKI_HUMAN			30	2453	-			969					A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	c.1914C>T	CCDS5845.1																																																																																				0.428	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		61	115	0	0	0	1	0	61	115					A	137092658	G	A	137092658	2	1	436	1	0	0	0	0	0	0	0	1	4471	1103	39	2		2	DGKI	7	137092658	Silent	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08	36721630	137092658	22046005	25	30153											
PRKAG2	51422	broad.mit.edu	37	chr7	151273533	151273533	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaaagcaaagaaggccttTttaacctgaagaaaaagagg	19	6	9	7	0	0	4	0	1	0	3	0	4	0	4	3	2	2	1	3	2	7	3			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:151273533T>C	ENST00000287878.4	-	7	1374	c.870A>G	c.(868-870)aaA>aaG	p.K290K	PRKAG2_ENST00000418337.2_Silent_p.K49K|PRKAG2_ENST00000392801.2_Silent_p.K246K|PRKAG2_ENST00000433631.2_Silent_p.K165K|PRKAG2_ENST00000492843.1_Silent_p.K166K	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	290	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	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)	Acetylsalicylic acid(DB00945)	AGAAGGCCTTTTTAACCTGAA	0.428																																						ENST00000287878.4																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26						c.(868-870)aaA>aaG		protein kinase, AMP-activated, gamma 2 non-catalytic subunit							54	56	55					7																	151273533		2203	4300	6503	SO:0001819	synonymous_variant	51422				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	g.chr7:151273533T>C	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.870A>G	7.37:g.151273533T>C						PRKAG2_ENST00000492843.1_Silent_p.K166K|PRKAG2_ENST00000433631.2_Silent_p.K165K|PRKAG2_ENST00000392801.2_Silent_p.K246K|PRKAG2_ENST00000418337.2_Silent_p.K49K	p.K290K	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	7	1374	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	290			CBS 1.		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Silent	SNP	ENST00000287878.4	37	c.870A>G	CCDS5928.1																																																																																				0.428	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		9	25	0	0	0	1	0	9	25					C	151273533	T	C	151273533	2	2	436	1	0	0	0	0	0	0	0	1	12501	1838	64	4		4	PRKAG2	7	151273533	Silent	SNP	T	TCGA-XK-AAJ3-01A-11D-A41K-08	14180875	151273533	7865130	26	30154											
POLR3D	661	broad.mit.edu	37	chr8	22107694	22107694	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgcaactcctcttgggcaAggtgactctggacgtgacca	8	9	13	11	1	2	2	0	2	2	0	3	3	3	3	2	4	2	2	2	4	2	1			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr8:22107694A>G	ENST00000397802.4	+	7	1243	c.1028A>G	c.(1027-1029)aAg>aGg	p.K343R	POLR3D_ENST00000306433.4_Missense_Mutation_p.K343R			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	343					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CTCTTGGGCAAGGTGACTCTG	0.557																																						ENST00000397802.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13						c.(1027-1029)aAg>aGg		polymerase (RNA) III (DNA directed) polypeptide D, 44kDa							85	76	79					8																	22107694		2203	4300	6503	SO:0001583	missense	661				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	g.chr8:22107694A>G	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"RNA polymerase subunits"	1080	protein-coding gene	gene with protein product		187280	"BN51 (BHK21) temperature sensitivity complementing"	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.1028A>G	8.37:g.22107694A>G	ENSP00000380904:p.Lys343Arg					POLR3D_ENST00000306433.4_Missense_Mutation_p.K343R	p.K343R			P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	7	1243	+			343					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Missense_Mutation	SNP	ENST00000397802.4	37	c.1028A>G	CCDS34858.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.603945	0.46423	.	.	ENSG00000168495	ENST00000306433;ENST00000397802	.	.	.	5.41	4.25	0.50352	.	0.141125	0.64402	N	0.000007	T	0.47619	0.1455	L	0.45581	1.43	0.37297	D	0.908508	B	0.12630	0.006	B	0.12156	0.007	T	0.46938	-0.9155	9	0.39692	T	0.17	-24.8854	8.3551	0.32324	0.8381:0.0:0.1619:0.0	.	343	P05423	RPC4_HUMAN	R	343	.	ENSP00000303088:K343R	K	+	2	0	POLR3D	22163639	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.591000	0.53986	0.879000	0.35944	0.459000	0.35465	AAG		0.557	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		23	39	0	0	0	1	0	23	39					G	22107694	A	G	22107694	3	3	436	1	0	0	0	0	1	0	0	0	12231	72	3	4	1054	4	POLR3D	8	22107694	Missense_Mutation	SNP	A	TCGA-XK-AAJ3-01A-11D-A41K-08		22107694	124256328	27	30155											
RUNX1T1	862	broad.mit.edu	37	chr8	92988173	92988173	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcacgtatccagacgcAggcctgtgaaggaattcccg	9	8	12	12	3	1	2	0	1	1	1	3	3	3	3	3	3	0	3	3	3	3	2			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr8:92988173A>T	ENST00000523629.1	-	10	1762	c.1308T>A	c.(1306-1308)ccT>ccA	p.P436P	GS1-5L10.1_ENST00000522980.1_RNA|RUNX1T1_ENST00000422361.2_Silent_p.P399P|RUNX1T1_ENST00000360348.2_Silent_p.P399P|RUNX1T1_ENST00000265814.3_Silent_p.P436P|RUNX1T1_ENST00000436581.2_Silent_p.P447P|RUNX1T1_ENST00000520724.1_Silent_p.P399P|RUNX1T1_ENST00000396218.1_Silent_p.P409P|RUNX1T1_ENST00000518844.1_Silent_p.P409P	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	436					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			ATCCAGACGCAGGCCTGTGAA	0.488																																						ENST00000523629.1																			0				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						c.(1306-1308)ccT>ccA		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							120	120	120					8																	92988173		2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92988173A>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1308T>A	8.37:g.92988173A>T						RUNX1T1_ENST00000396218.1_Silent_p.P409P|RUNX1T1_ENST00000422361.2_Silent_p.P399P|RUNX1T1_ENST00000360348.2_Silent_p.P399P|RUNX1T1_ENST00000520724.1_Silent_p.P399P|RUNX1T1_ENST00000518844.1_Silent_p.P409P|RUNX1T1_ENST00000436581.2_Silent_p.P447P|RUNX1T1_ENST00000265814.3_Silent_p.P436P|GS1-5L10.1_ENST00000522980.1_RNA	p.P436P	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		10	1762	-			436					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.1308T>A	CCDS6256.1																																																																																				0.488	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		41	79	0	0	0	1	0	41	79					T	92988173	A	T	92988173	2	4	436	1	0	0	0	0	0	0	0	1	13747	175	7	5		5	RUNX1T1	8	92988173	Silent	SNP	A	TCGA-XK-AAJ3-01A-11D-A41K-08	70880479	92988173	53375849	28	30156											
ZFAT	57623	broad.mit.edu	37	chr8	135533215	135533215	+	Frame_Shift_Del	DEL	C	C	-																															ctcccatttggtgccatataCaaagctgcaaacaggacact																										TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr8:135533215delC	ENST00000377838.3	-	13	3319	c.3145delG	c.(3145-3147)gtafs	p.V1049fs	ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520727.1_Frame_Shift_Del_p.V1037fs|ZFAT_ENST00000429442.2_Frame_Shift_Del_p.V1037fs|ZFAT_ENST00000520214.1_Frame_Shift_Del_p.V1037fs|ZFAT_ENST00000520356.1_Frame_Shift_Del_p.V1037fs|ZFAT_ENST00000523399.1_Frame_Shift_Del_p.V987fs	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1049					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGCCATATACAAAGCTGCAA	0.408																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3109-3111)tafs		zinc finger and AT hook domain containing							83	76	78					8																	135533215		1857	4106	5963	SO:0001589	frameshift_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135533215delC	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3145delG	8.37:g.135533215delC	ENSP00000367069:p.Val1049fs					ZFAT_ENST00000377838.3_Frame_Shift_Del_p.V1049fs|ZFAT_ENST00000520356.1_Frame_Shift_Del_p.V1037fs|ZFAT_ENST00000520214.1_Frame_Shift_Del_p.V1037fs|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000429442.2_Frame_Shift_Del_p.V1037fs|ZFAT_ENST00000523399.1_Frame_Shift_Del_p.V987fs	p.V1037fs	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		14	3408	-	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)		1049					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Frame_Shift_Del	DEL	ENST00000377838.3	37	c.3109delG	CCDS47924.1																																																																																				0.408	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		11	25						11	25	---	---	---	---	-	135533215	C	-	135533215	7	5	436	1	0	1	0	1	0	0	0	0	17629	478	17	0	602	0	ZFAT	8	135533215	Frame_Shift_Del	DEL	C	TCGA-XK-AAJ3-01A-11D-A41K-08	42545042	135533215	10830807	29	30157											
UHRF2	115426	broad.mit.edu	37	chr9	6460608	6460608	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactctagaaatgaatgtcaAggatcttagaccacgagcta	15	10	8	8	1	3	3	1	1	2	2	3	5	3	4	1	1	2	1	1	1	7	4			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr9:6460608A>G	ENST00000276893.5	+	4	848	c.680A>G	c.(679-681)aAg>aGg	p.K227R		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	227	Interaction with PCNP.|Required for interaction with histone H3. {ECO:0000250}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		ATGAATGTCAAGGATCTTAGA	0.363																																						ENST00000276893.5																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17						c.(679-681)aAg>aGg		ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase							91	92	91					9																	6460608		2203	4300	6503	SO:0001583	missense	115426				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	g.chr9:6460608A>G	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	12557	protein-coding gene	gene with protein product	"Np95-like ring finger protein"	615211	"ubiquitin-like with PHD and ring finger domains 2"			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.680A>G	9.37:g.6460608A>G	ENSP00000276893:p.Lys227Arg						p.K227R	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	4	848	+		Acute lymphoblastic leukemia(23;0.158)	227			Interaction with PCNP.		Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	37	c.680A>G	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.415983	0.25552	.	.	ENSG00000147854	ENST00000276893;ENST00000450508	D;T	0.85861	-2.04;0.81	5.74	3.41	0.39046	Domain of unknown function DUF3590 (1);	0.333020	0.32548	N	0.005951	T	0.69133	0.3077	N	0.26042	0.785	0.09310	N	1	B;B	0.17038	0.02;0.004	B;B	0.20384	0.029;0.02	T	0.48456	-0.9034	10	0.16896	T	0.51	-8.7245	0.9192	0.01311	0.4787:0.1538:0.2203:0.1473	.	4;227	B3KV82;Q96PU4	.;UHRF2_HUMAN	R	227;4	ENSP00000276893:K227R;ENSP00000399217:K4R	ENSP00000276893:K227R	K	+	2	0	UHRF2	6450608	0.028000	0.19301	0.997000	0.53966	0.986000	0.74619	0.331000	0.19733	0.992000	0.38840	0.482000	0.46254	AAG		0.363	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		33	59	0	0	0	1	0	33	59					G	6460608	A	G	6460608	3	3	436	1	0	0	0	0	1	0	0	0	16967	72	3	4	694	4	UHRF2	9	6460608	Missense_Mutation	SNP	A	TCGA-XK-AAJ3-01A-11D-A41K-08		6460608	134752823	30	30158											
KIF24	347240	broad.mit.edu	37	chr9	34257664	34257664	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgcacagttcctttcacAgggctagcatgaatgaccca	11	8	10	12	1	1	2	1	2	0	0	2	3	2	2	2	1	2	4	2	1	2	3			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr9:34257664A>T	ENST00000402558.2	-	10	1965	c.1941T>A	c.(1939-1941)ccT>ccA	p.P647P	KIF24_ENST00000379174.3_Silent_p.P513P|KIF24_ENST00000379166.2_Silent_p.P647P|KIF24_ENST00000345050.2_Silent_p.P513P			Q5T7B8	KIF24_HUMAN	kinesin family member 24	647					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTCCTTTCACAGGGCTAGCAT	0.493																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1939-1941)ccT>ccA		kinesin family member 24							56	52	53					9																	34257664		2203	4300	6503	SO:0001819	synonymous_variant	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34257664A>T	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1941T>A	9.37:g.34257664A>T						KIF24_ENST00000379174.3_Silent_p.P513P|KIF24_ENST00000402558.2_Silent_p.P647P|KIF24_ENST00000345050.2_Silent_p.P513P	p.P647P	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	2060	-			647					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	ENST00000402558.2	37	c.1941T>A	CCDS6551.2																																																																																				0.493	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			3	48	0	0	0	1	0	3	48					T	34257664	A	T	34257664	2	4	436	1	0	0	0	0	0	0	0	1	8292	175	7	5		5	KIF24	9	34257664	Silent	SNP	A	TCGA-XK-AAJ3-01A-11D-A41K-08	27797056	34257664	106955767	31	30159											
ALDH1A1	216	broad.mit.edu	37	chr9	75567854	75567854	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagaagttttactcaccttAgtatattgaatcttcaaatc	14	16	4	7	0	3	2	2	1	1	1	4	2	3	2	1	0	1	2	1	0	8	8			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr9:75567854A>T	ENST00000297785.3	-	1	117	c.63T>A	c.(61-63)acT>acA	p.T21T	ALDH1A1_ENST00000376939.1_Silent_p.T21T|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	21					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TACTCACCTTAGTATATTGAA	0.403																																						ENST00000297785.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17						c.(61-63)acT>acA		aldehyde dehydrogenase 1 family, member A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						94	87	89					9																	75567854		2203	4299	6502	SO:0001819	synonymous_variant	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75567854A>T	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.63T>A	9.37:g.75567854A>T						ALDH1A1_ENST00000376939.1_Silent_p.T21T|ALDH1A1_ENST00000482210.1_5'UTR	p.T21T	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN			1	117	-			21					O00768|Q5SYR1	Silent	SNP	ENST00000297785.3	37	c.63T>A	CCDS6644.1																																																																																				0.403	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			21	39	0	0	0	1	0	21	39					T	75567854	A	T	75567854	2	4	436	1	0	0	0	0	0	0	0	1	490	407	15	5		5	ALDH1A1	9	75567854	Silent	SNP	A	TCGA-XK-AAJ3-01A-11D-A41K-08	41310190	75567854	65645577	32	30160											
LRRC8A	56262	broad.mit.edu	37	chr9	131671215	131671215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagcctcaagaagatggCgaacctgactgagctggagc	13	5	12	11	1	1	4	1	2	0	2	1	6	1	5	2	2	5	1	2	2	4	0			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr9:131671215C>T	ENST00000259324.5	+	3	2295	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	LRRC8A_ENST00000372599.3_Missense_Mutation_p.A591V|LRRC8A_ENST00000372600.4_Missense_Mutation_p.A591V	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	591					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AAGAAGATGGCGAACCTGACT	0.572																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(1771-1773)gCg>gTg		leucine rich repeat containing 8 family, member A							121	99	107					9																	131671215		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131671215C>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1772C>T	9.37:g.131671215C>T	ENSP00000259324:p.Ala591Val					LRRC8A_ENST00000372600.4_Missense_Mutation_p.A591V|LRRC8A_ENST00000372599.3_Missense_Mutation_p.A591V	p.A591V	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	2295	+			591					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.1772C>T	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	0.650	-0.809976	0.02798	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.24538	1.85;1.85;1.85	5.53	3.24	0.37175	.	0.114643	0.64402	N	0.000017	T	0.07548	0.0190	N	0.01522	-0.82	0.31680	N	0.643249	B	0.02656	0.0	B	0.01281	0.0	T	0.29731	-1.0002	10	0.08179	T	0.78	.	7.9299	0.29897	0.0:0.1766:0.0:0.8234	.	591	Q8IWT6	LRC8A_HUMAN	V	591	ENSP00000361682:A591V;ENSP00000361680:A591V;ENSP00000259324:A591V	ENSP00000259324:A591V	A	+	2	0	LRRC8A	130711036	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.269000	0.58890	0.419000	0.25927	-0.367000	0.07326	GCG		0.572	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		9	60	0	0	0	1	0	9	60					T	131671215	C	T	131671215	3	4	436	1	0	0	0	0	1	0	0	0	9021	768	27	1	1774	1	LRRC8A	9	131671215	Missense_Mutation	SNP	C	TCGA-XK-AAJ3-01A-11D-A41K-08	56103361	131671215	9542216	33	30161											
UPF2	26019	broad.mit.edu	37	chr10	12070949	12070949	+	Frame_Shift_Del	DEL	G	G	-																															agcaatatcatctccacaatGtcgacagaaactaatcacta																										TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr10:12070949delG	ENST00000356352.2	-	2	1413	c.940delC	c.(940-942)catfs	p.H314fs	UPF2_ENST00000357604.5_Frame_Shift_Del_p.H314fs|UPF2_ENST00000397053.2_Frame_Shift_Del_p.H314fs			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	314	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			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)				TCTCCACAATGTCGACAGAAA	0.383																																						ENST00000356352.2																			0				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						c.(940-942)atfs		UPF2 regulator of nonsense transcripts homolog (yeast)							97	94	95					10																	12070949		2203	4300	6503	SO:0001589	frameshift_variant	26019				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	g.chr10:12070949delG	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.940delC	10.37:g.12070949delG	ENSP00000348708:p.His314fs					UPF2_ENST00000357604.5_Frame_Shift_Del_p.H314fs|UPF2_ENST00000397053.2_Frame_Shift_Del_p.H314fs	p.H314fs			Q9HAU5	RENT2_HUMAN			2	1413	-		Renal(717;0.228)	314			MIF4G 1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Frame_Shift_Del	DEL	ENST00000356352.2	37	c.940delC	CCDS7086.1																																																																																				0.383	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			33	66						33	66	---	---	---	---	-	12070949	G	-	12070949	7	5	436	1	0	1	0	1	0	0	0	0	17001	1377	48	0	2958	0	UPF2	10	12070949	Frame_Shift_Del	DEL	G	TCGA-XK-AAJ3-01A-11D-A41K-08		12070949	123463798	34	30162											
PCDH15	65217	broad.mit.edu	37	chr10	56077095	56077095	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatcacgagtgtttggcAcaaggacacaaggaagaaac	16	5	12	8	1	1	1	1	0	0	1	1	4	1	3	0	4	1	3	0	4	5	1			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr10:56077095A>T	ENST00000320301.6	-	8	1206	c.812T>A	c.(811-813)gTg>gAg	p.V271E	PCDH15_ENST00000373957.3_Missense_Mutation_p.V249E|PCDH15_ENST00000414778.1_Missense_Mutation_p.V276E|PCDH15_ENST00000395440.1_Missense_Mutation_p.V271E|PCDH15_ENST00000373965.2_Missense_Mutation_p.V271E|PCDH15_ENST00000395446.1_Missense_Mutation_p.V271E|PCDH15_ENST00000373955.1_Missense_Mutation_p.V271E|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.V271E|PCDH15_ENST00000395442.1_Missense_Mutation_p.V271E|PCDH15_ENST00000395433.1_Missense_Mutation_p.V249E|PCDH15_ENST00000437009.1_Missense_Mutation_p.V271E|PCDH15_ENST00000395432.2_Missense_Mutation_p.V234E|PCDH15_ENST00000395438.1_Missense_Mutation_p.V271E|PCDH15_ENST00000361849.3_Missense_Mutation_p.V271E|PCDH15_ENST00000395430.1_Missense_Mutation_p.V271E	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	271					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			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)				AGTGTTTGGCACAAGGACACA	0.458										HNSCC(58;0.16)																												ENST00000373965.2																			0				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						c.(811-813)gTg>gAg		protocadherin-related 15							180	139	153					10																	56077095		2203	4300	6503	SO:0001583	missense	65217				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	g.chr10:56077095A>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.812T>A	10.37:g.56077095A>T	ENSP00000322604:p.Val271Glu	HNSCC(58;0.16)				PCDH15_ENST00000395446.1_Missense_Mutation_p.V271E|PCDH15_ENST00000373955.1_Missense_Mutation_p.V271E|PCDH15_ENST00000373957.3_Missense_Mutation_p.V249E|PCDH15_ENST00000395438.1_Missense_Mutation_p.V271E|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V271E|PCDH15_ENST00000395440.1_Missense_Mutation_p.V271E|PCDH15_ENST00000320301.6_Missense_Mutation_p.V271E|PCDH15_ENST00000395442.1_Missense_Mutation_p.V271E|PCDH15_ENST00000361849.3_Missense_Mutation_p.V271E|PCDH15_ENST00000395445.1_Missense_Mutation_p.V271E|PCDH15_ENST00000437009.1_Missense_Mutation_p.V271E|PCDH15_ENST00000414778.1_Missense_Mutation_p.V276E|PCDH15_ENST00000395432.2_Missense_Mutation_p.V234E|PCDH15_ENST00000395433.1_Missense_Mutation_p.V249E	p.V271E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			8	1206	-		Melanoma(3;0.117)|Lung SC(717;0.238)	271					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.812T>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.682073	0.68042	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60797	0.37;0.41;0.33;0.34;0.39;0.66;0.53;0.16;0.21;0.27;0.27;0.22;0.21;0.31;0.42	4.77	4.77	0.60923	.	.	.	.	.	T	0.73521	0.3597	M	0.67953	2.075	0.48696	D	0.999692	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999;1.0;0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.997;0.991;0.993;0.986;0.998;0.991;0.997;0.998;0.999;0.991;0.999;0.999;1.0;0.998;0.993	T	0.77180	-0.2682	9	0.87932	D	0	.	14.2438	0.65975	1.0:0.0:0.0:0.0	.	249;271;271;276;271;234;271;271;271;271;271;276;271;249;271	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	E	271;276;271;271;271;271;271;271;234;271;249;249;271;271;276;271;271	ENSP00000363076:V271E;ENSP00000410304:V276E;ENSP00000378826:V271E;ENSP00000378832:V271E;ENSP00000378833:V271E;ENSP00000378829:V271E;ENSP00000378827:V271E;ENSP00000378820:V234E;ENSP00000354950:V271E;ENSP00000378821:V249E;ENSP00000363068:V249E;ENSP00000322604:V271E;ENSP00000378818:V271E;ENSP00000412628:V271E;ENSP00000363066:V271E	ENSP00000322604:V271E	V	-	2	0	PCDH15	55747101	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.150000	0.94667	1.901000	0.55032	0.455000	0.32223	GTG		0.458	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		45	76	0	0	0	1	0	45	76					T	56077095	A	T	56077095	3	4	436	1	0	0	0	0	1	0	0	0	11511	159	6	5	6803	5	PCDH15	10	56077095	Missense_Mutation	SNP	A	TCGA-XK-AAJ3-01A-11D-A41K-08	44006146	56077095	79457652	35	30163											
SLC16A9	220963	broad.mit.edu	37	chr10	61413936	61413936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ataactgccacttcctcttgGcaagctgtttgcaaaaatat	12	13	6	10	0	1	0	0	0	1	0	2	0	2	0	2	1	4	4	2	1	5	5			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr10:61413936G>A	ENST00000395348.3	-	5	1484	c.848C>T	c.(847-849)gCc>gTc	p.A283V	SLC16A9_ENST00000395347.1_Missense_Mutation_p.A283V	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	283					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CTTCCTCTTGGCAAGCTGTTT	0.373																																						ENST00000395348.3																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						c.(847-849)gCc>gTc		solute carrier family 16, member 9							118	119	118					10																	61413936		2203	4300	6503	SO:0001583	missense	220963				urate metabolic process	integral to membrane|plasma membrane	symporter activity	g.chr10:61413936G>A	AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"Solute carriers"	23520	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 9"	614242	"chromosome 10 open reading frame 36", "solute carrier family 16 (monocarboxylic acid transporters), member 9", "solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.848C>T	10.37:g.61413936G>A	ENSP00000378757:p.Ala283Val					SLC16A9_ENST00000395347.1_Missense_Mutation_p.A283V	p.A283V	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN			5	1484	-			283					Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	ENST00000395348.3	37	c.848C>T	CCDS7256.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516107	0.64634	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.80824	-1.42;-1.42	5.12	5.12	0.69794	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.550524	0.19499	N	0.112798	T	0.76543	0.4002	L	0.47716	1.5	0.42490	D	0.992894	P	0.40144	0.704	B	0.42462	0.388	T	0.74016	-0.3800	10	0.28530	T	0.3	.	11.9721	0.53069	0.0801:0.0:0.9199:0.0	.	283	Q7RTY1	MOT9_HUMAN	V	283	ENSP00000378757:A283V;ENSP00000378756:A283V	ENSP00000378756:A283V	A	-	2	0	SLC16A9	61083942	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.274000	0.65569	2.369000	0.80426	0.591000	0.81541	GCC		0.373	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		4	136	0	0	0	1	0	4	136					A	61413936	G	A	61413936	3	1	436	1	0	0	0	0	1	0	0	0	14415	1203	42	3	689	3	SLC16A9	10	61413936	Missense_Mutation	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08	5336841	61413936	74120811	36	30164											
HKDC1	80201	broad.mit.edu	37	chr10	71025575	71025575	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacaagctgcaccctcaGtgagtgcccacaagaggcgt	10	7	11	13	1	1	2	1	1	0	1	1	2	1	2	2	1	4	3	2	1	3	1			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr10:71025575G>A	ENST00000354624.5	+	17	2739		c.e17+1		RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1						carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			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						TGCACCCTCAGTGAGTGCCCA	0.617																																						ENST00000354624.5																			0				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						c.e17+1		hexokinase domain containing 1							20	20	20					10																	71025575		2203	4298	6501	SO:0001630	splice_region_variant	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71025575G>A		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2606+1G>A	10.37:g.71025575G>A						RP11-227H15.5_ENST00000413220.1_RNA		NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			17	2739	+								B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Splice_Site	SNP	ENST00000354624.5	37		CCDS7288.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211175	0.79240	.	.	ENSG00000156510	ENST00000354624	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0826	0.89445	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HKDC1	70695581	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.657000	0.98554	2.568000	0.86640	0.563000	0.77884	.		0.617	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130	Intron	5	17	0	0	0	1	0	5	17					A	71025575	G	A	71025575	5	1	436	1	0	0	0	0	0	0	1	0	7193	1043	36	3	2673	3	HKDC1	10	71025575	Splice_Site	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08	9611639	71025575	64509172	37	30165											
NHLRC2	374354	broad.mit.edu	37	chr10	115636278	115636278	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatataattttttcctttcAgatggtcttcttattattgg	9	21	5	6	0	3	1	1	0	2	1	4	1	4	1	1	2	0	0	1	2	4	10			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr10:115636278A>T	ENST00000369301.3	+	3	543		c.e3-1			NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ttttCCTTTCAGATGGTCTTC	0.308																																						ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.e3-1		NHL repeat containing 2							41	43	42					10																	115636278		2203	4299	6502	SO:0001630	splice_region_variant	374354				cell redox homeostasis			g.chr10:115636278A>T	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.332-1A>T	10.37:g.115636278A>T								NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	3	543	+								Q8N1H1|Q8N5A6	Splice_Site	SNP	ENST00000369301.3	37		CCDS7585.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102604	0.76983	.	.	ENSG00000196865	ENST00000369301	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6611	0.68873	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NHLRC2	115626268	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.103000	0.94232	2.252000	0.74401	0.528000	0.53228	.		0.308	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514	Intron	20	36	0	0	0	1	0	20	36					T	115636278	A	T	115636278	5	4	436	1	0	0	0	0	0	0	1	0	10406	202	7	5	340	5	NHLRC2	10	115636278	Splice_Site	SNP	A	TCGA-XK-AAJ3-01A-11D-A41K-08	44610703	115636278	19898469	38	30166											
NUP98	4928	broad.mit.edu	37	chr11	3735065	3735065	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttaaacacccaagaacCagtttcaggccggtattctt	12	11	6	12	1	2	1	1	0	1	1	2	1	2	1	4	2	3	2	4	2	6	6			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:3735065C>A	ENST00000324932.7	-	19	2980	c.2560G>T	c.(2560-2562)Ggt>Tgt	p.G854C	NUP98_ENST00000359171.4_Missense_Mutation_p.G854C|RNU6-1143P_ENST00000516125.1_RNA|NUP98_ENST00000397007.4_Missense_Mutation_p.G871C|NUP98_ENST00000397004.4_Missense_Mutation_p.G854C|NUP98_ENST00000355260.3_Missense_Mutation_p.G854C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	871	Peptidase S59. {ECO:0000255|PROSITE- ProRule:PRU00765}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			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)		ACCCAAGAACCAGTTTCAGGC	0.398			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"		AML		0				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						c.(2560-2562)Ggt>Tgt		nucleoporin 98kDa							114	97	103					11																	3735065		2201	4298	6499	SO:0001583	missense	4928				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	g.chr11:3735065C>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.2560G>T	11.37:g.3735065C>A	ENSP00000316032:p.Gly854Cys					NUP98_ENST00000397007.4_Missense_Mutation_p.G871C|NUP98_ENST00000397004.4_Missense_Mutation_p.G854C|NUP98_ENST00000355260.3_Missense_Mutation_p.G854C|NUP98_ENST00000359171.4_Missense_Mutation_p.G854C	p.G854C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	19	2980	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	871			Peptidase S59.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.2560G>T	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497855	0.85069	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.84120	0.5402	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.86680	0.1916	9	0.87932	D	0	-15.3812	16.5353	0.84371	0.0:1.0:0.0:0.0	.	871;854;854;854	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	C	854;854;854;854;871	.	ENSP00000316032:G854C	G	-	1	0	NUP98	3691641	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	7.617000	0.83032	2.656000	0.90262	0.655000	0.94253	GGT		0.398	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		31	60	1	0	1.06647e-15	1	1.07917e-15	31	60					A	3735065	C	A	3735065	3	1	436	1	0	0	0	0	1	0	0	0	10773	594	21	5	2923	5	NUP98	11	3735065	Missense_Mutation	SNP	C	TCGA-XK-AAJ3-01A-11D-A41K-08		3735065	131271451	39	30167											
CHRM4	1132	broad.mit.edu	37	chr11	46407006	46407006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgttggccgcagggcGcatgccagccggcgtggcag	5	4	18	14	5	0	0	0	0	0	0	0	0	0	0	4	5	2	4	4	5	0	1			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:46407006G>A	ENST00000433765.2	-	1	1101	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	368					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.R368S(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCCGCAGGGCGCATGCCAGCC	0.627																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	ENST00000433765.2																			1	Substitution - Missense(1)	p.R368S(1)	prostate(1)	breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(1102-1104)Cgc>Tgc		cholinergic receptor, muscarinic 4	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)						99	109	106					11																	46407006		2130	4226	6356	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407006G>A	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1953	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 4"	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.1102C>T	11.37:g.46407006G>A	ENSP00000409378:p.Arg368Cys						p.R368C	NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	1101	-			368					B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.1102C>T	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	g	14.43	2.532921	0.45073	.	.	ENSG00000180720	ENST00000433765	T	0.60797	0.16	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75125	0.3807	M	0.85542	2.76	0.58432	D	0.999999	D	0.89917	1.0	D	0.68621	0.959	T	0.78661	-0.2117	9	0.66056	D	0.02	-21.0621	10.8456	0.46741	0.0868:0.0:0.9132:0.0	.	368	P08173	ACM4_HUMAN	C	368	ENSP00000409378:R368C	ENSP00000409378:R368C	R	-	1	0	CHRM4	46363582	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	5.336000	0.65935	2.307000	0.77673	0.457000	0.33378	CGC		0.627	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		5	167	0	0	0	1	0	5	167					A	46407006	G	A	46407006	3	1	436	1	0	0	0	0	1	0	0	0	3379	1087	38	1	341	1	CHRM4	11	46407006	Missense_Mutation	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08	42671941	46407006	88599510	40	30168											
KIAA0652	9776	broad.mit.edu	37	chr11	46671735	46671735	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgcctggcaggtgtgataAagaaatcaaagtttcctaca	13	11	10	7	0	1	2	1	1	0	1	2	2	2	2	2	2	2	2	2	2	5	3			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:46671735A>G	ENST00000434074.1	+	6	1015	c.326A>G	c.(325-327)aAa>aGa	p.K109R	ATG13_ENST00000451945.1_Missense_Mutation_p.K109R|ATG13_ENST00000312040.4_Missense_Mutation_p.K109R|ATG13_ENST00000528494.1_Missense_Mutation_p.K109R|ATG13_ENST00000529655.1_Missense_Mutation_p.K109R|ATG13_ENST00000530500.1_Missense_Mutation_p.K30R|ATG13_ENST00000526508.1_Missense_Mutation_p.K109R|ATG13_ENST00000359513.4_Missense_Mutation_p.K109R|ATG13_ENST00000524625.1_Missense_Mutation_p.K109R	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	109					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AGGTGTGATAAAGAAATCAAA	0.433																																						ENST00000434074.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						c.(325-327)aAa>aGa		autophagy related 13							117	112	113					11																	46671735		2201	4299	6500	SO:0001583	missense	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46671735A>G	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"KIAA0652", "ATG13 autophagy related 13 homolog (S. cerevisiae)"	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.326A>G	11.37:g.46671735A>G	ENSP00000400642:p.Lys109Arg					ATG13_ENST00000528494.1_Missense_Mutation_p.K109R|ATG13_ENST00000530500.1_Missense_Mutation_p.K30R|ATG13_ENST00000524625.1_Missense_Mutation_p.K109R|ATG13_ENST00000529655.1_Missense_Mutation_p.K109R|ATG13_ENST00000451945.1_Missense_Mutation_p.K109R|ATG13_ENST00000359513.4_Missense_Mutation_p.K109R|ATG13_ENST00000312040.4_Missense_Mutation_p.K109R|ATG13_ENST00000526508.1_Missense_Mutation_p.K109R	p.K109R	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN			6	1015	+			109					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	37	c.326A>G	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196160	0.58126	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000533325;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000526078	.	.	.	5.65	5.65	0.86999	.	0.046113	0.85682	D	0.000000	T	0.43942	0.1270	L	0.34521	1.04	0.50813	D	0.999896	B;B;B;B	0.22800	0.006;0.009;0.075;0.01	B;B;B;B	0.21917	0.011;0.015;0.037;0.009	T	0.33929	-0.9849	9	0.19147	T	0.46	-7.3547	10.2577	0.43408	0.9264:0.0:0.0736:0.0	.	30;109;109;109	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	R	109;109;109;109;109;109;30;109;109;109;109;109	.	ENSP00000310321:K109R	K	+	2	0	ATG13	46628311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.536000	0.82023	2.155000	0.67459	0.533000	0.62120	AAA		0.433	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		21	44	0	0	0	1	0	21	44					G	46671735	A	G	46671735	3	3	436	1	0	0	0	0	1	0	0	0	8188	14	1	4	344	4	KIAA0652	11	46671735	Missense_Mutation	SNP	A	TCGA-XK-AAJ3-01A-11D-A41K-08	264729	46671735	88334781	41	30169											
OR5A2	219981	broad.mit.edu	37	chr11	59189861	59189861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggtgaaggtatcagagcagGacagagccaggactggaggg	12	5	18	6	0	1	3	1	1	0	2	1	6	1	6	1	6	2	2	1	6	2	1			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:59189861G>A	ENST00000302040.4	-	1	588	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ATCAGAGCAGGACAGAGCCAG	0.458																																						ENST00000302040.4																			0				large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						c.(565-567)tCc>tTc		olfactory receptor, family 5, subfamily A, member 2							106	92	97					11																	59189861		2201	4295	6496	SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59189861G>A	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"GPCR / Class A : Olfactory receptors"	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.566C>T	11.37:g.59189861G>A	ENSP00000303834:p.Ser189Phe						p.S189F	NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN			1	588	-			189					B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.566C>T	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164186	0.94727	.	.	ENSG00000172324	ENST00000302040	T	0.00299	8.22	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.237817	0.21414	U	0.074926	T	0.00967	0.0032	M	0.91920	3.255	0.27621	N	0.948354	D	0.67145	0.996	D	0.70227	0.968	T	0.27872	-1.0061	10	0.87932	D	0	.	17.1743	0.86837	0.0:0.0:1.0:0.0	.	189	Q8NGI9	OR5A2_HUMAN	F	189	ENSP00000303834:S189F	ENSP00000303834:S189F	S	-	2	0	OR5A2	58946437	0.637000	0.27216	0.106000	0.21319	0.988000	0.76386	4.009000	0.57110	2.740000	0.93945	0.585000	0.79938	TCC		0.458	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		14	29	0	0	0	1	0	14	29					A	59189861	G	A	59189861	3	1	436	1	0	0	0	0	1	0	0	0	11140	1174	41	3	410	3	OR5A2	11	59189861	Missense_Mutation	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08	12518126	59189861	75816655	42	30170											
KCNK7	10089	broad.mit.edu	37	chr11	65360511	65360511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctgaagctggggccgCgggcggcagggtgctcagag	5	7	19	10	3	1	2	1	1	0	1	2	2	2	2	2	5	2	3	2	5	1	1			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:65360511C>T	ENST00000340313.4	-	3	1112	c.889G>A	c.(889-891)Gcg>Acg	p.A297T	KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000342202.4_3'UTR|AP001362.1_ENST00000597463.1_5'Flank|KCNK7_ENST00000394216.2_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	297					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						GCTGGGGCCGCGGGCGGCAGG	0.627																																						ENST00000340313.4																			0				endometrium(1)|liver(1)|lung(1)	3						c.(889-891)Gcg>Acg		potassium channel, subfamily K, member 7							33	32	33					11																	65360511		2201	4297	6498	SO:0001583	missense	10089					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:65360511C>T	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.889G>A	11.37:g.65360511C>T	ENSP00000344820:p.Ala297Thr					KCNK7_ENST00000342202.4_3'UTR|KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000394216.2_3'UTR	p.A297T	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN			3	1112	-			297					Q3SYI2|Q9Y2U3|Q9Y2U4	Missense_Mutation	SNP	ENST00000340313.4	37	c.889G>A	CCDS31608.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.91|10.91	1.484551|1.484551	0.26598|0.26598	.|.	.|.	ENSG00000173338|ENSG00000173338	ENST00000340313|ENST00000530380	T|.	0.09723|.	2.95|.	4.7|4.7	-3.64|-3.64	0.04515|0.04515	.|.	1.724340|.	0.03434|.	N|.	0.208358|.	T|T	0.10121|0.10121	0.0248|0.0248	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.04013|.	0.001|.	T|T	0.29971|0.29971	-0.9994|-0.9994	10|5	0.14252|.	T|.	0.57|.	.|.	0.484|0.484	0.00552|0.00552	0.1882:0.2423:0.1793:0.3902|0.1882:0.2423:0.1793:0.3902	.|.	297|.	Q9Y2U2|.	KCNK7_HUMAN|.	T|H	297|61	ENSP00000344820:A297T|.	ENSP00000344820:A297T|.	A|R	-|-	1|2	0|0	KCNK7|KCNK7	65117087|65117087	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.209000|0.209000	0.24338|0.24338	-1.716000|-1.716000	0.01878|0.01878	-0.046000|-0.046000	0.13446|0.13446	-0.367000|-0.367000	0.07326|0.07326	GCG|CGC		0.627	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		6	17	0	0	0	1	0	6	17					T	65360511	C	T	65360511	3	4	436	1	0	0	0	0	1	0	0	0	8071	768	27	1	38	1	KCNK7	11	65360511	Missense_Mutation	SNP	C	TCGA-XK-AAJ3-01A-11D-A41K-08	6170650	65360511	69646005	43	30171											
FZD4	8322	broad.mit.edu	37	chr11	86665903	86665903	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagttgtcagctgcagctcGgcgtccgtctgcagctcgtg	6	10	13	12	4	2	0	1	0	1	0	5	0	3	0	1	1	5	6	1	1	1	1	rs377527854		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:86665903G>C	ENST00000531380.1	-	1	530	c.225C>G	c.(223-225)gcC>gcG	p.A75A	RP11-736K20.6_ENST00000499504.3_lincRNA	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	75	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCTGCAGCTCGGCGTCCGTCT	0.667																																						ENST00000531380.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(223-225)gcC>gcG		frizzled family receptor 4							35	33	34					11																	86665903		2201	4299	6500	SO:0001819	synonymous_variant	8322				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	g.chr11:86665903G>C	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.225C>G	11.37:g.86665903G>C							p.A75A	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			1	530	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	75			FZ.		A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	c.225C>G	CCDS8279.1																																																																																				0.667	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		6	13	0	0	0	1	0	6	13					C	86665903	G	C	86665903	2	2	436	1	0	0	0	0	0	0	0	1	6132	1103	39	5		5	FZD4	11	86665903	Silent	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08	21305392	86665903	48340613	44	30172											
ARHGAP20	57569	broad.mit.edu	37	chr11	110451506	110451506	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgcgtagctttttctgatAaaactccctgaggtaggaaa	11	13	9	8	1	1	2	0	2	1	0	2	3	2	3	1	2	3	3	1	2	5	6			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:110451506A>T	ENST00000260283.4	-	16	2448	c.2164T>A	c.(2164-2166)Tat>Aat	p.Y722N	ARHGAP20_ENST00000529591.1_Missense_Mutation_p.Y265N|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.Y696N|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.Y686N|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.Y696N|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.Y686N|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.Y699N	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	722					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			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)		TTTTTCTGATAAAACTCCCTG	0.478																																						ENST00000260283.4																			0				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						c.(2164-2166)Tat>Aat		Rho GTPase activating protein 20							60	62	61					11																	110451506		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110451506A>T	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2164T>A	11.37:g.110451506A>T	ENSP00000260283:p.Tyr722Asn					ARHGAP20_ENST00000527598.1_Missense_Mutation_p.Y686N|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.Y686N|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.Y696N|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.Y696N|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.Y265N|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.Y699N	p.Y722N	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		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)	16	2448	-		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)	722					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.2164T>A	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.364601	0.41902	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.10960	2.82;2.83;2.86;2.82;2.83;2.83;2.83	5.85	5.85	0.93711	.	0.191733	0.37669	N	0.001992	T	0.25457	0.0619	M	0.72894	2.215	0.09310	N	0.999992	D;D;D	0.71674	0.998;0.994;0.998	D;P;D	0.66979	0.948;0.841;0.948	T	0.26849	-1.0091	10	0.27785	T	0.31	.	7.1912	0.25826	0.8781:0.0:0.1219:0.0	.	696;722;699	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	N	722;696;265;699;686;696;686	ENSP00000260283:Y722N;ENSP00000349660:Y696N;ENSP00000437905:Y265N;ENSP00000432076:Y699N;ENSP00000436319:Y686N;ENSP00000436522:Y696N;ENSP00000431399:Y686N	ENSP00000260283:Y722N	Y	-	1	0	ARHGAP20	109956716	0.995000	0.38212	0.971000	0.41717	0.948000	0.59901	3.067000	0.50010	2.246000	0.74042	0.533000	0.62120	TAT		0.478	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		48	67	0	0	0	1	0	48	67					T	110451506	A	T	110451506	3	4	436	1	0	0	0	0	1	0	0	0	870	362	13	5	1415	5	ARHGAP20	11	110451506	Missense_Mutation	SNP	A	TCGA-XK-AAJ3-01A-11D-A41K-08	23785603	110451506	24555010	45	30173											
GRIP1	23426	broad.mit.edu	37	chr12	66765526	66765526	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctttatttcttgtttcAtttttctcagggttactgac	5	22	5	9	0	4	1	2	1	3	0	6	1	4	1	1	1	1	2	1	1	2	8	rs202244085		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr12:66765526A>G	ENST00000398016.3	-	22	2872	c.2804T>C	c.(2803-2805)aTg>aCg	p.M935T	GRIP1_ENST00000359742.4_Missense_Mutation_p.M987T|GRIP1_ENST00000286445.7_Missense_Mutation_p.M972T	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			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)		TTCTTGTTTCATTTTTCTCAG	0.498																																						ENST00000359742.4																			0				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						c.(2959-2961)aTg>aCg		glutamate receptor interacting protein 1							172	176	175					12																	66765526		1967	4155	6122	SO:0001583	missense	23426				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	g.chr12:66765526A>G	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2804T>C	12.37:g.66765526A>G	ENSP00000381098:p.Met935Thr					GRIP1_ENST00000286445.7_Missense_Mutation_p.M972T|GRIP1_ENST00000398016.3_Missense_Mutation_p.M935T	p.M987T			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	23	3200	-			987					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.2960T>C	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.677|1.677	-0.507514|-0.507514	0.04231|0.04231	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211|ENST00000538164	T;T;T;T|.	0.40476|.	1.03;1.03;1.03;1.03|.	6.13|6.13	5.0|5.0	0.66597|0.66597	PDZ/DHR/GLGF (1);|.	0.149536|.	0.64402|.	D|.	0.000001|.	T|.	0.57695|.	0.2071|.	L|L	0.43152|0.43152	1.355|1.355	0.40588|0.40588	D|D	0.981463|0.981463	B;B;B;B|.	0.28636|.	0.0;0.087;0.0;0.218|.	B;B;B;B|.	0.26094|.	0.004;0.03;0.004;0.066|.	T|.	0.55418|.	-0.8144|.	9|.	.|.	.|.	.|.	-17.3381|-17.3381	12.0882|12.0882	0.53710|0.53710	0.9338:0.0:0.0662:0.0|0.9338:0.0:0.0662:0.0	.|.	920;987;935;972|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	T|R	935;987;972;920|787	ENSP00000381098:M935T;ENSP00000352780:M987T;ENSP00000286445:M972T;ENSP00000446047:M920T|.	.|.	M|X	-|-	2|1	0|0	GRIP1|GRIP1	65051793|65051793	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.013000|0.013000	0.08279|0.08279	7.023000|7.023000	0.76437|0.76437	1.163000|1.163000	0.42636|0.42636	0.529000|0.529000	0.55759|0.55759	ATG|TGA		0.498	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			63	115	0	0	0	1	0	63	115					G	66765526	A	G	66765526	3	3	436	1	0	0	0	0	1	0	0	0	6787	217	8	4	438	4	GRIP1	12	66765526	Missense_Mutation	SNP	A	TCGA-XK-AAJ3-01A-11D-A41K-08		66765526	67086369	46	30174											
NEDD1	121441	broad.mit.edu	37	chr12	97330979	97330979	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attccattacatttcagtcaAgtttaaataaaggctgttca	14	15	5	7	0	3	0	3	0	0	0	4	0	4	0	1	1	1	3	1	1	6	7			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr12:97330979A>G	ENST00000266742.4	+	9	1264	c.925A>G	c.(925-927)Agt>Ggt	p.S309G	NEDD1_ENST00000429527.2_Missense_Mutation_p.S309G|NEDD1_ENST00000411739.2_Missense_Mutation_p.S220G|NEDD1_ENST00000557644.1_Missense_Mutation_p.S316G|NEDD1_ENST00000457368.2_Missense_Mutation_p.S220G	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	309					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ATTTCAGTCAAGTTTAAATAA	0.303																																						ENST00000266742.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						c.(925-927)Agt>Ggt		neural precursor cell expressed, developmentally down-regulated 1							41	39	40					12																	97330979		2203	4298	6501	SO:0001583	missense	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97330979A>G		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"WD repeat domain containing"	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.925A>G	12.37:g.97330979A>G	ENSP00000266742:p.Ser309Gly					NEDD1_ENST00000411739.2_Missense_Mutation_p.S220G|NEDD1_ENST00000429527.2_Missense_Mutation_p.S309G|NEDD1_ENST00000557644.1_Missense_Mutation_p.S316G|NEDD1_ENST00000457368.2_Missense_Mutation_p.S220G	p.S309G	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN			9	1264	+			309					B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	c.925A>G	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	A	12.22	1.871450	0.33069	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000557644;ENST00000457368	T;T;T;T;T	0.51817	0.69;0.69;1.47;0.69;1.47	5.65	2.07	0.26955	.	0.451921	0.27986	N	0.017053	T	0.30355	0.0762	L	0.29908	0.895	0.28331	N	0.921798	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16158	-1.0412	10	0.25106	T	0.35	.	7.3646	0.26766	0.7364:0.0:0.2636:0.0	.	316;309	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	G	309;309;220;316;220	ENSP00000266742:S309G;ENSP00000404978:S309G;ENSP00000411307:S220G;ENSP00000451211:S316G;ENSP00000407964:S220G	ENSP00000266742:S309G	S	+	1	0	NEDD1	95855110	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	1.374000	0.34283	0.112000	0.17975	0.482000	0.46254	AGT		0.303	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			14	30	0	0	0	1	0	14	30					G	97330979	A	G	97330979	3	3	436	1	0	0	0	0	1	0	0	0	10309	72	3	4	976	4	NEDD1	12	97330979	Missense_Mutation	SNP	A	TCGA-XK-AAJ3-01A-11D-A41K-08	30565453	97330979	36520916	47	30175											
DNAH10	196385	broad.mit.edu	37	chr12	124403289	124403289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggctgcgggatggctacCggccagcagccaggaggggg	8	3	19	11	2	0	0	0	0	0	0	0	2	0	2	3	7	4	3	3	7	1	1	rs200977125		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr12:124403289C>T	ENST00000409039.3	+	64	10970	c.10945C>T	c.(10945-10947)Cgg>Tgg	p.R3649W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3649					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)		GGATGGCTACCGGCCAGCAGC	0.567													C|||	1	0.000199681	0	0	5008	,	,		17681	0.001		0	False		,,,				2504	0					ENST00000409039.3																			0				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						c.(10945-10947)Cgg>Tgg		dynein, axonemal, heavy chain 10		C	TRP/ARG	0,3828		0,0,1914	34	38	37		10945	4.9	1	12		37	1,8233		0,1,4116	no	missense	DNAH10	NM_207437.3	101	0,1,6030	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	3649/4472	124403289	1,12061	1914	4117	6031	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124403289C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10945C>T	12.37:g.124403289C>T	ENSP00000386770:p.Arg3649Trp						p.R3649W	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	64	10970	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3649					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.10945C>T	CCDS9255.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	22.4	4.289379	0.80914	0.0	1.21E-4	ENSG00000197653	ENST00000409039	T	0.55413	0.52	5.79	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.83399	0.5246	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	D	0.90395	0.4398	10	0.72032	D	0.01	.	14.9896	0.71377	0.2587:0.7413:0.0:0.0	.	3649	Q8IVF4	DYH10_HUMAN	W	3649	ENSP00000386770:R3649W	ENSP00000386770:R3649W	R	+	1	2	DNAH10	122969242	0.996000	0.38824	1.000000	0.80357	0.848000	0.48234	0.506000	0.22658	1.394000	0.46624	0.561000	0.74099	CGG		0.567	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			11	28	0	0	0	1	0	11	28					T	124403289	C	T	124403289	3	4	436	1	0	0	0	0	1	0	0	0	4598	643	23	2	11199	2	DNAH10	12	124403289	Missense_Mutation	SNP	C	TCGA-XK-AAJ3-01A-11D-A41K-08	27072310	124403289	9448606	48	30176											
BDKRB1	623	broad.mit.edu	37	chr14	96730919	96730919	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaattggccaacttcttTgccttcactaacagctccct	8	13	5	15	0	2	0	1	0	1	0	3	0	3	0	3	1	5	2	3	1	3	5			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr14:96730919T>G	ENST00000216629.6	+	3	1506	c.900T>G	c.(898-900)ttT>ttG	p.F300L	BDKRB1_ENST00000553356.1_Intron|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	300					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CCAACTTCTTTGCCTTCACTA	0.478																																						ENST00000216629.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16						c.(898-900)ttT>ttG		bradykinin receptor B1							140	138	138					14																	96730919		2203	4300	6503	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730919T>G	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"GPCR / Class A : Bradykinin receptors"	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.900T>G	14.37:g.96730919T>G	ENSP00000216629:p.Phe300Leu					BDKRB1_ENST00000553356.1_Intron|RP11-404P21.3_ENST00000553638.1_RNA	p.F300L	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	1506	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	300					A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	c.900T>G	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.299993	0.00243	.	.	ENSG00000100739	ENST00000216629	T	0.28454	1.61	4.56	-9.12	0.00707	GPCR, rhodopsin-like superfamily (1);	0.168405	0.41396	N	0.000899	T	0.06462	0.0166	N	0.01505	-0.83	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41556	-0.9502	10	0.05351	T	0.99	-2.4167	11.0173	0.47696	0.0:0.4544:0.2421:0.3035	.	300	P46663	BKRB1_HUMAN	L	300	ENSP00000216629:F300L	ENSP00000216629:F300L	F	+	3	2	BDKRB1	95800672	0.000000	0.05858	0.079000	0.20413	0.036000	0.12997	-2.483000	0.00980	-2.537000	0.00488	-2.948000	0.00085	TTT		0.478	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			58	88	0	0	0	1	0	58	88					G	96730919	T	G	96730919	3	3	436	1	0	0	0	0	1	0	0	0	1392	1809	63	5	902	5	BDKRB1	14	96730919	Missense_Mutation	SNP	T	TCGA-XK-AAJ3-01A-11D-A41K-08		96730919	10618621	49	30177											
AQP9	366	broad.mit.edu	37	chr15	58465315	58465315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaatgtgtctctttggacGgatgaaatggttcaaattgc	11	13	11	6	1	2	1	1	1	1	0	3	3	2	3	0	3	2	2	0	3	3	3			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr15:58465315G>A	ENST00000219919.4	+	3	657	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	AQP9_ENST00000536493.1_Missense_Mutation_p.R96Q|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.R31Q	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	96					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.R96L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CTCTTTGGACGGATGAAATGG	0.468																																						ENST00000219919.4																			1	Substitution - Missense(1)	p.R96L(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21						c.(286-288)cGg>cAg		aquaporin 9							211	204	206					15																	58465315		2192	4292	6484	SO:0001583	missense	366				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	g.chr15:58465315G>A	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"Ion channels / Aquaporins"	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.287G>A	15.37:g.58465315G>A	ENSP00000219919:p.Arg96Gln					AQP9_ENST00000558772.1_Missense_Mutation_p.R31Q|AQP9_ENST00000536493.1_Missense_Mutation_p.R96Q|ALDH1A2_ENST00000558231.1_Intron	p.R96Q	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	3	657	+			96					Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.287G>A	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789781	0.90367	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	D;D	0.85171	-1.95;-1.95	5.46	4.55	0.56014	Aquaporin-like (2);	0.070870	0.56097	D	0.000024	D	0.89326	0.6683	M	0.63428	1.95	0.45962	D	0.998784	D	0.55605	0.972	P	0.59012	0.85	D	0.90075	0.4166	10	0.59425	D	0.04	.	14.3319	0.66564	0.0704:0.0:0.9296:0.0	.	96	O43315	AQP9_HUMAN	Q	96	ENSP00000219919:R96Q;ENSP00000441390:R96Q	ENSP00000219919:R96Q	R	+	2	0	AQP9	56252607	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	5.650000	0.67944	1.548000	0.49413	0.655000	0.94253	CGG		0.468	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		33	118	0	0	0	1	0	33	118					A	58465315	G	A	58465315	3	1	436	1	0	0	0	0	1	0	0	0	833	1116	39	2	297	2	AQP9	15	58465315	Missense_Mutation	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08		58465315	44066077	50	30178											
CTCF	10664	broad.mit.edu	37	chr16	67662331	67662331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagccttacgcctgcaGccactgcgataagaccttcc	10	7	10	14	2	0	2	0	0	0	2	1	4	1	2	5	1	5	1	5	1	3	3			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr16:67662331G>A	ENST00000264010.4	+	9	2021	c.1577G>A	c.(1576-1578)aGc>aAc	p.S526N	CTCF_ENST00000401394.1_Missense_Mutation_p.S198N	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	526					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			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)		TACGCCTGCAGCCACTGCGAT	0.572																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				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						c.(1576-1578)aGc>aAc		CCCTC-binding factor (zinc finger protein)							143	116	125					16																	67662331		2198	4300	6498	SO:0001583	missense	10664				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	g.chr16:67662331G>A	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1577G>A	16.37:g.67662331G>A	ENSP00000264010:p.Ser526Asn					CTCF_ENST00000401394.1_Missense_Mutation_p.S198N	p.S526N	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	9	2021	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	526					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1577G>A	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013696	0.75161	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.19250	2.16;2.16	5.72	5.72	0.89469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.29288	0.0729	N	0.17872	0.535	0.80722	D	1	D;P	0.67145	0.996;0.948	D;P	0.65323	0.934;0.75	T	0.03315	-1.1049	10	0.11182	T	0.66	-2.4665	19.488	0.95037	0.0:0.0:1.0:0.0	.	198;526	B5MC38;P49711	.;CTCF_HUMAN	N	526;198	ENSP00000264010:S526N;ENSP00000384707:S198N	ENSP00000264010:S526N	S	+	2	0	CTCF	66219832	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.614000	0.74197	2.702000	0.92279	0.462000	0.41574	AGC		0.572	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		4	73	0	0	0	1	0	4	73					A	67662331	G	A	67662331	3	1	436	1	0	0	0	0	1	0	0	0	4000	971	34	3	1603	3	CTCF	16	67662331	Missense_Mutation	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08		67662331	22692422	51	30179											
WSCD1	23302	broad.mit.edu	37	chr17	5984015	5984015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgactccagaagtttctcCgccgaacacagttcctgctg	8	10	8	15	3	1	1	0	0	1	1	5	3	4	1	5	0	2	3	5	0	2	2			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr17:5984015C>T	ENST00000574946.1	+	2	427	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	WSCD1_ENST00000539421.1_Missense_Mutation_p.R13C|WSCD1_ENST00000317744.5_Missense_Mutation_p.R13C|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000574232.1_Missense_Mutation_p.R13C			Q658N2	WSCD1_HUMAN	WSC domain containing 1	13						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GAAGTTTCTCCGCCGAACACA	0.662																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(37-39)Cgc>Tgc		WSC domain containing 1							42	41	41					17																	5984015		2122	4103	6225	SO:0001583	missense	23302					integral to membrane	sulfotransferase activity	g.chr17:5984015C>T		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.37C>T	17.37:g.5984015C>T	ENSP00000460825:p.Arg13Cys					WSCD1_ENST00000539421.1_Missense_Mutation_p.R13C|WSCD1_ENST00000317744.5_Missense_Mutation_p.R13C|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000574232.1_Missense_Mutation_p.R13C	p.R13C			Q658N2	WSCD1_HUMAN			2	427	+			13					A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	c.37C>T	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.058721	0.76074	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	D;D	0.83075	-1.68;-1.68	5.06	5.06	0.68205	.	0.070564	0.52532	D	0.000079	D	0.86777	0.6014	L	0.47190	1.495	0.44562	D	0.997523	D	0.89917	1.0	D	0.71184	0.972	D	0.87524	0.2448	10	0.87932	D	0	-24.2834	11.1036	0.48190	0.1848:0.8151:0.0:0.0	.	13	Q658N2	WSCD1_HUMAN	C	13	ENSP00000323087:R13C;ENSP00000446032:R13C	ENSP00000323087:R13C	R	+	1	0	WSCD1	5924739	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.470000	0.45119	2.346000	0.79739	0.552000	0.68991	CGC		0.662	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		10	32	0	0	0	1	0	10	32					T	5984015	C	T	5984015	3	4	436	1	0	0	0	0	1	0	0	0	17403	652	23	2	39	2	WSCD1	17	5984015	Missense_Mutation	SNP	C	TCGA-XK-AAJ3-01A-11D-A41K-08		5984015	75211195	52	30180											
RCVRN	5957	broad.mit.edu	37	chr17	9801416	9801416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctgaacagttggcatcagGcgttcttcatcttttccttc	7	15	8	11	1	4	1	2	1	2	0	6	1	5	1	1	2	2	4	1	2	1	6			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr17:9801416G>A	ENST00000226193.5	-	3	1039	c.599C>T	c.(598-600)gCc>gTc	p.A200V	RCVRN_ENST00000570909.3_5'UTR	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	200					phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						TTGGCATCAGGCGTTCTTCAT	0.512																																						ENST00000226193.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						c.(598-600)gCc>gTc		recoverin							324	272	290					17																	9801416		2203	4300	6503	SO:0001583	missense	5957				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr17:9801416G>A	BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"EF-hand domain containing"	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.599C>T	17.37:g.9801416G>A	ENSP00000226193:p.Ala200Val					RCVRN_ENST00000570909.2_Missense_Mutation_p.A69V	p.A200V	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN			3	1039	-			200					Q53XL0	Missense_Mutation	SNP	ENST00000226193.5	37	c.599C>T	CCDS11151.1	.	.	.	.	.	.	.	.	.	.	G	8.811	0.935152	0.18206	.	.	ENSG00000109047	ENST00000226193	T	0.65178	-0.14	5.21	-2.56	0.06268	.	0.202993	0.41823	D	0.000808	T	0.35219	0.0924	N	0.08118	0	0.20703	N	0.999864	B	0.02656	0.0	B	0.01281	0.0	T	0.20840	-1.0263	10	0.87932	D	0	.	8.8275	0.35063	0.0776:0.0:0.2773:0.6451	.	200	P35243	RECO_HUMAN	V	200	ENSP00000226193:A200V	ENSP00000226193:A200V	A	-	2	0	RCVRN	9742141	0.261000	0.24063	0.143000	0.22291	0.255000	0.26057	-0.108000	0.10857	-0.601000	0.05783	0.655000	0.94253	GCC		0.512	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903		56	115	0	0	0	1	0	56	115					A	9801416	G	A	9801416	3	1	436	1	0	0	0	0	1	0	0	0	13186	1203	42	3	7	3	RCVRN	17	9801416	Missense_Mutation	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08	3817401	9801416	71393794	53	30181											
C17orf66	256957	broad.mit.edu	37	chr17	34192348	34192348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgggactgagtttggcttgCtcggatgctgcctccagcac	6	10	13	12	2	0	1	0	1	0	0	2	3	1	3	2	3	4	5	2	3	0	2			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr17:34192348C>A	ENST00000311880.2	-	3	339	c.191G>T	c.(190-192)aGc>aTc	p.S64I	C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Missense_Mutation_p.S64I	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		64					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GTTTGGCTTGCTCGGATGCTG	0.557																																						ENST00000311880.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38						c.(190-192)aGc>aTc		chromosome 17 open reading frame 66							161	130	141					17																	34192348		2203	4300	6503	SO:0001583	missense	256957						binding	g.chr17:34192348C>A																												ENST00000311880.2:c.191G>T	17.37:g.34192348C>A	ENSP00000309560:p.Ser64Ile					C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Missense_Mutation_p.S64I	p.S64I	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	3	339	-		Ovarian(249;0.17)	64					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	c.191G>T	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835890	0.71373	.	.	ENSG00000172653	ENST00000311880	T	0.52057	0.68	4.27	0.562	0.17290	.	1.014930	0.07872	N	0.968038	T	0.44705	0.1306	L	0.36672	1.1	0.09310	N	1	P;P;P	0.48016	0.904;0.799;0.845	P;B;P	0.51355	0.667;0.387;0.467	T	0.34875	-0.9811	10	0.87932	D	0	.	3.2314	0.06750	0.0:0.4646:0.2132:0.3223	.	30;64;64	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	I	64	ENSP00000309560:S64I	ENSP00000309560:S64I	S	-	2	0	C17orf66	31216461	0.001000	0.12720	0.000000	0.03702	0.791000	0.44710	0.003000	0.13083	0.145000	0.18977	0.655000	0.94253	AGC		0.557	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			21	21	1	0	2.70639e-06	1	2.70639e-06	21	21					A	34192348	C	A	34192348	3	1	436	1	0	0	0	0	1	0	0	0	1874	797	28	5	1573	5	C17orf66	17	34192348	Missense_Mutation	SNP	C	TCGA-XK-AAJ3-01A-11D-A41K-08	24390932	34192348	47002862	54	30182											
SPOP	8405	broad.mit.edu	37	chr17	47696430	47696430	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggatgaatttcttgaatccCcagtctttgccttgcacaaa	10	13	7	11	1	2	2	0	2	2	0	3	3	3	3	3	1	2	1	3	1	3	4			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr17:47696430C>G	ENST00000393328.2	-	6	758	c.393G>C	c.(391-393)tgG>tgC	p.W131C	SPOP_ENST00000393331.3_Missense_Mutation_p.W131C|SPOP_ENST00000347630.2_Missense_Mutation_p.W131C|SPOP_ENST00000504102.1_Missense_Mutation_p.W131C|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.W131C	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TCTTGAATCCCCAGTCTTTGC	0.453										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)tgG>tgC		speckle-type POZ protein							121	123	122					17																	47696430		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696430C>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.393G>C	17.37:g.47696430C>G	ENSP00000377001:p.Trp131Cys	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.W131C|SPOP_ENST00000503676.1_Missense_Mutation_p.W131C|SPOP_ENST00000393328.2_Missense_Mutation_p.W131C|SPOP_ENST00000347630.2_Missense_Mutation_p.W131C	p.W131C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	863	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.393G>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214115	0.79352	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.84808	0.5554	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86651	0.1898	10	0.72032	D	0.01	0.1404	18.9712	0.92715	0.0:1.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	C	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131C;ENSP00000377004:W131C;ENSP00000240327:W131C;ENSP00000425905:W131C;ENSP00000420908:W131C;ENSP00000426986:W131C;ENSP00000420960:W131C;ENSP00000426262:W131C;ENSP00000424119:W131C	ENSP00000240327:W131C	W	-	3	0	SPOP	45051429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.583000	0.82559	2.802000	0.96397	0.563000	0.77884	TGG		0.453	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		43	82	0	0	0	1	0	43	82					G	47696430	C	G	47696430	3	3	436	1	0	0	0	0	1	0	0	0	15083	624	22	5	755	5	SPOP	17	47696430	Missense_Mutation	SNP	C	TCGA-XK-AAJ3-01A-11D-A41K-08	13504082	47696430	33498780	55	30183											
GNAL	2774	broad.mit.edu	37	chr18	11881064	11881064	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgtggacacagagaacaTccgcagggtgttcaacgact	11	6	12	12	4	1	1	1	0	0	1	2	4	2	2	2	2	2	2	2	2	2	1			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr18:11881064T>C	ENST00000423027.3	+	12	1397	c.1076T>C	c.(1075-1077)aTc>aCc	p.I359T	GNAL_ENST00000334049.6_Missense_Mutation_p.I436T|GNAL_ENST00000602628.1_Missense_Mutation_p.I152T|GNAL_ENST00000535121.1_Missense_Mutation_p.I359T|GNAL_ENST00000269162.5_Missense_Mutation_p.I359T			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	359					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						ACAGAGAACATCCGCAGGGTG	0.602																																						ENST00000334049.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(1306-1308)aTc>aCc		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type							94	64	74					18																	11881064		2203	4300	6503	SO:0001583	missense	2774				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	g.chr18:11881064T>C	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.1076T>C	18.37:g.11881064T>C	ENSP00000408489:p.Ile359Thr					GNAL_ENST00000269162.5_Missense_Mutation_p.I359T|GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000423027.3_Missense_Mutation_p.I359T|GNAL_ENST00000602628.1_Missense_Mutation_p.I152T|GNAL_ENST00000535121.1_Missense_Mutation_p.I359T	p.I436T	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN			12	1915	+			359					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.1307T>C	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.895320	0.91962	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027;ENST00000535980	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.55	5.55	0.83447	.	0.226228	0.52532	N	0.000070	D	0.94631	0.8269	M	0.83483	2.645	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.989;0.993	D	0.95335	0.8433	10	0.87932	D	0	.	15.6863	0.77411	0.0:0.0:0.0:1.0	.	359;436	P38405;Q86XU3	GNAL_HUMAN;.	T	298;436;359;359;359;152	ENSP00000334051:I436T;ENSP00000439023:I359T;ENSP00000269162:I359T;ENSP00000408489:I359T	ENSP00000269162:I359T	I	+	2	0	GNAL	11871064	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.968000	0.87980	2.094000	0.63399	0.460000	0.39030	ATC		0.602	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		13	25	0	0	0	1	0	13	25					C	11881064	T	C	11881064	3	2	436	1	0	0	0	0	1	0	0	0	6507	1435	50	4	1502	4	GNAL	18	11881064	Missense_Mutation	SNP	T	TCGA-XK-AAJ3-01A-11D-A41K-08		11881064	66196184	56	30184											
ZNF565	147929	broad.mit.edu	37	chr19	36673496	36673496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcggtaagttgtgaactacGaataaaggccattccacact	13	11	8	9	2	0	1	0	1	0	0	2	2	1	1	2	2	2	2	2	2	6	6			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr19:36673496G>A	ENST00000355114.5	-	5	2218	c.1492C>T	c.(1492-1494)Cgt>Tgt	p.R498C	ZNF565_ENST00000392173.2_Missense_Mutation_p.R458C|ZNF565_ENST00000304116.5_Missense_Mutation_p.R458C			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TGTGAACTACGAATAAAGGCC	0.433																																						ENST00000355114.5																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(1492-1494)Cgt>Tgt		zinc finger protein 565							135	110	119					19																	36673496		2203	4300	6503	SO:0001583	missense	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36673496G>A	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"Zinc fingers, C2H2-type", "-"	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1492C>T	19.37:g.36673496G>A	ENSP00000347234:p.Arg498Cys					ZNF565_ENST00000304116.5_Missense_Mutation_p.R458C|ZNF565_ENST00000392173.2_Missense_Mutation_p.R458C	p.R498C			Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	2218	-	Esophageal squamous(110;0.162)		458					B3KQ35|Q6NUS2	Missense_Mutation	SNP	ENST00000355114.5	37	c.1492C>T		.	.	.	.	.	.	.	.	.	.	g	7.809	0.715208	0.15306	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.08102	3.13;3.13;3.13	4.81	3.75	0.43078	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37809	N	0.001926	T	0.07188	0.0182	L	0.42008	1.315	0.09310	N	1	B	0.30664	0.289	B	0.17433	0.018	T	0.25950	-1.0117	10	0.37606	T	0.19	.	10.3854	0.44136	0.0:0.0:0.6435:0.3565	.	458	Q8N9K5	ZN565_HUMAN	C	458;458;498	ENSP00000376013:R458C;ENSP00000306869:R458C;ENSP00000347234:R498C	ENSP00000306869:R458C	R	-	1	0	ZNF565	41365336	0.000000	0.05858	0.918000	0.36340	0.005000	0.04900	-0.045000	0.12003	1.377000	0.46286	-0.187000	0.12897	CGT		0.433	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		4	107	0	0	0	1	0	4	107					A	36673496	G	A	36673496	3	1	436	1	0	0	0	0	1	0	0	0	17993	1058	37	2	131	2	ZNF565	19	36673496	Missense_Mutation	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08		36673496	22455487	57	30185											
DLGAP4	22839	broad.mit.edu	37	chr20	35060731	35060731	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctccaacatctcaggctGgtggagctccgatgacaact	9	8	10	14	2	1	1	1	1	1	0	4	3	3	2	3	3	3	3	3	3	2	0			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr20:35060731G>C	ENST00000373907.2	+	2	810	c.611G>C	c.(610-612)tGg>tCg	p.W204S	DLGAP4_ENST00000373913.3_Missense_Mutation_p.W204S|DLGAP4_ENST00000339266.5_Missense_Mutation_p.W204S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.W204S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	204					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ATCTCAGGCTGGTGGAGCTCC	0.677																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(610-612)tGg>tCg		discs, large (Drosophila) homolog-associated protein 4							39	48	45					20																	35060731		2203	4299	6502	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060731G>C	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.611G>C	20.37:g.35060731G>C	ENSP00000363014:p.Trp204Ser					DLGAP4_ENST00000373907.2_Missense_Mutation_p.W204S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.W204S|DLGAP4_ENST00000339266.5_Missense_Mutation_p.W204S	p.W204S			Q9Y2H0	DLGP4_HUMAN			3	1091	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	204					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.611G>C		.	.	.	.	.	.	.	.	.	.	G	17.51	3.407491	0.62399	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.18810	2.19;2.19;2.21;2.21	5.24	5.24	0.73138	.	0.257993	0.41500	D	0.000874	T	0.45975	0.1369	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.64410	0.925	T	0.46555	-0.9183	10	0.87932	D	0	.	17.8061	0.88601	0.0:0.0:1.0:0.0	.	204	Q9Y2H0-1	.	S	204	ENSP00000363023:W204S;ENSP00000384954:W204S;ENSP00000363014:W204S;ENSP00000341633:W204S	ENSP00000341633:W204S	W	+	2	0	DLGAP4	34494145	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.157000	0.64911	2.438000	0.82558	0.462000	0.41574	TGG		0.677	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		21	31	0	0	0	1	0	21	31					C	35060731	G	C	35060731	3	2	436	1	0	0	0	0	1	0	0	0	4562	1357	47	5	613	5	DLGAP4	20	35060731	Missense_Mutation	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08		35060731	27964789	58	30186											
CEBPB	1051	broad.mit.edu	37	chr20	48807618	48807618	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtctccccctgccgccGccgccgcctgcctttaaatc	4	9	8	20	4	1	0	0	0	1	0	3	0	1	0	8	0	2	1	8	0	2	2			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr20:48807618G>A	ENST00000303004.3	+	1	243	c.48G>A	c.(46-48)ccG>ccA	p.P16P		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	16	Required for Lys-174 sumoylation.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cellular response to amino acid stimulus (GO:0071230)|embryonic placenta development (GO:0001892)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary gland epithelial cell differentiation (GO:0060644)|mammary gland epithelial cell proliferation (GO:0033598)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|response to lipopolysaccharide (GO:0032496)|transcription from RNA polymerase II promoter (GO:0006366)	condensed chromosome, centromeric region (GO:0000779)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			CCCTGCCGCCGCCGCCGCCTG	0.736																																						ENST00000303004.3																			0				NS(1)|lung(1)	2						c.(46-48)ccG>ccA		CCAAT/enhancer binding protein (C/EBP), beta							6	8	7					20																	48807618		1696	3431	5127	SO:0001819	synonymous_variant	1051				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr20:48807618G>A	AY193834	CCDS13429.1	20q13.1	2013-01-10			ENSG00000172216	ENSG00000172216		"basic leucine zipper proteins"	1834	protein-coding gene	gene with protein product	"liver-enriched transcriptional activator protein", "nuclear factor of interleukin 6", "interleukin 6-dependent DNA-binding protein"	189965		TCF5		1535333, 1840554	Standard	NM_005194		Approved	LAP, CRP2, NFIL6, IL6DBP, C/EBP-beta	uc002xvi.2	P17676	OTTHUMG00000032715	ENST00000303004.3:c.48G>A	20.37:g.48807618G>A							p.P16P	NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)		1	243	+			16			Required for Lys-174 sumoylation.		A8K671|Q96IH2|Q9H4Z5	Silent	SNP	ENST00000303004.3	37	c.48G>A	CCDS13429.1																																																																																				0.736	CEBPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079672.1	NM_005194		7	6	0	0	0	1	0	7	6					A	48807618	G	A	48807618	2	1	436	1	0	0	0	0	0	0	0	1	3200	1074	38	1		1	CEBPB	20	48807618	Silent	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08	13746887	48807618	14217902	59	30187											
DIDO1	11083	broad.mit.edu	37	chr20	61512748	61512748	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactttggtggtggagacatCaaggcgtccgacaccgagaa	11	7	14	9	3	1	2	1	0	0	2	2	6	2	2	2	4	0	0	2	4	2	1			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr20:61512748C>T	ENST00000266070.4	-	16	4885	c.4560G>A	c.(4558-4560)ttG>ttA	p.L1520L	DIDO1_ENST00000395343.1_Silent_p.L1520L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1520					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			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)					GTGGAGACATCAAGGCGTCCG	0.632																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				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						c.(4558-4560)ttG>ttA		death inducer-obliterator 1							85	85	85					20																	61512748		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512748C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4560G>A	20.37:g.61512748C>T						DIDO1_ENST00000395343.1_Silent_p.L1520L	p.L1520L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	4885	-	Breast(26;5.68e-08)		1520					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.4560G>A	CCDS33506.1																																																																																				0.632	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		28	55	0	0	0	1	0	28	55					T	61512748	C	T	61512748	2	4	436	1	0	0	0	0	0	0	0	1	4522	825	29	3		3	DIDO1	20	61512748	Silent	SNP	C	TCGA-XK-AAJ3-01A-11D-A41K-08	12705130	61512748	1512772	60	30188											
NCF4	4689	broad.mit.edu	37	chr22	37260173	37260173	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcttcaccagccactttgTaagacagactcctagtcctt	10	11	7	13	0	1	2	1	0	0	2	3	2	3	2	4	1	1	2	4	1	2	5			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr22:37260173T>C	ENST00000248899.6	+	2	301		c.e2+2		NCF4_ENST00000397147.4_Splice_Site|CTA-833B7.2_ENST00000330602.2_RNA|CTA-833B7.2_ENST00000431290.1_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	AGCCACTTTGTAAGACAGACT	0.517																																						ENST00000397147.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.e2+2		neutrophil cytosolic factor 4, 40kDa							107	98	101					22																	37260173		2203	4300	6503	SO:0001630	splice_region_variant	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37260173T>C	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"neutrophil NADPH oxidase factor 4"	601488	"neutrophil cytosolic factor 4 (40kD)"			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.117+2T>C	22.37:g.37260173T>C						CTA-833B7.2_ENST00000431290.1_RNA|CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000248899.6_Splice_Site		NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN			2	301	+								A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Splice_Site	SNP	ENST00000248899.6	37		CCDS13934.1	.	.	.	.	.	.	.	.	.	.	T	11.11	1.542164	0.27563	.	.	ENSG00000100365	ENST00000248899;ENST00000397147	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8142	0.63281	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCF4	35590119	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	6.799000	0.75160	1.915000	0.55452	0.402000	0.26972	.		0.517	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631	Intron	42	46	0	0	0	1	0	42	46					C	37260173	T	C	37260173	5	2	436	1	0	0	0	0	0	0	1	0	10218	1652	57	4	125	4	NCF4	22	37260173	Splice_Site	SNP	T	TCGA-XK-AAJ3-01A-11D-A41K-08		37260173	14044393	61	30189											
GRAMD4	23151	broad.mit.edu	37	chr22	47069586	47069586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagacgacctcgtcacGgagctacgtacccagcgcac	9	5	11	16	5	1	1	1	0	0	1	2	3	1	2	2	1	5	5	2	1	2	2			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr22:47069586G>A	ENST00000406902.1	+	15	1472	c.1259G>A	c.(1258-1260)cGg>cAg	p.R420Q	GRAMD4_ENST00000408031.1_5'Flank|GRAMD4_ENST00000361034.3_Missense_Mutation_p.R420Q			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	420					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		ACCTCGTCACGGAGCTACGTA	0.637																																						ENST00000406902.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12						c.(1258-1260)cGg>cAg		GRAM domain containing 4							73	76	75					22																	47069586		2203	4300	6503	SO:0001583	missense	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47069586G>A		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"death-inducing-protein"	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.1259G>A	22.37:g.47069586G>A	ENSP00000385689:p.Arg420Gln					GRAMD4_ENST00000361034.3_Missense_Mutation_p.R420Q	p.R420Q			Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	15	1472	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)	420					A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	ENST00000406902.1	37	c.1259G>A	CCDS33672.1	.	.	.	.	.	.	.	.	.	.	g	22.9	4.356130	0.82243	.	.	ENSG00000075240	ENST00000406902;ENST00000361034	T;T	0.51574	0.7;0.7	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000003	T	0.55800	0.1943	L	0.36672	1.1	0.51012	D	0.999907	D	0.71674	0.998	P	0.58970	0.849	T	0.59295	-0.7481	10	0.62326	D	0.03	-34.4295	16.7981	0.85607	0.0:0.0:1.0:0.0	.	420	Q6IC98	GRAM4_HUMAN	Q	420	ENSP00000385689:R420Q;ENSP00000354313:R420Q	ENSP00000354313:R420Q	R	+	2	0	GRAMD4	45448250	1.000000	0.71417	0.978000	0.43139	0.100000	0.18952	6.323000	0.72891	2.298000	0.77334	0.313000	0.20887	CGG		0.637	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		34	97	0	0	0	1	0	34	97					A	47069586	G	A	47069586	3	1	436	1	0	0	0	0	1	0	0	0	6752	1116	39	2	1313	2	GRAMD4	22	47069586	Missense_Mutation	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08	9809413	47069586	4234980	62	30190											
KDM6A	7403	broad.mit.edu	37	chrX	44941831	44941831	+	Frame_Shift_Del	DEL	A	A	-																															taatctataggaagaaaatgAaaaaagaagtcatcataaag																										TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chrX:44941831delA	ENST00000377967.4	+	21	3196	c.3155delA	c.(3154-3156)gaafs	p.E1052fs	KDM6A_ENST00000536777.1_Frame_Shift_Del_p.E1007fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.E973fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.E1059fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1052	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.R1054fs*5(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAGAAAATGAAAAAAGAAGT	0.313			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		7	Whole gene deletion(6)|Insertion - Frameshift(1)	p.0?(6)|p.R1054fs*5(1)	oesophagus(2)|breast(2)|pancreas(2)|central_nervous_system(1)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(3154-3156)gafs		lysine (K)-specific demethylase 6A							88	81	84					X																	44941831		2203	4300	6503	SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44941831delA	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3155delA	X.37:g.44941831delA	ENSP00000367203:p.Glu1052fs					KDM6A_ENST00000536777.1_Frame_Shift_Del_p.E1007fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.E1059fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.E973fs	p.E1052fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			21	3196	+			1052					Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	c.3155delA	CCDS14265.1																																																																																				0.313	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		58	27						58	27	---	---	---	---	-	44941831	A	-	44941831	7	5	436	1	0	1	0	1	0	0	0	0	8137	246	9	0	3237	0	KDM6A	23	44941831	Frame_Shift_Del	DEL	A	TCGA-XK-AAJ3-01A-11D-A41K-08		44941831	110328729	63	30191											
MAGEA10	4109	broad.mit.edu	37	chrX	151303919	151303919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatagcaggaggaggaggaGgaagaggaggaggagggaaa	16	1	23	1	0	0	1	0	0	0	1	0	11	0	11	0	10	1	1	0	10	3	1			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chrX:151303919G>A	ENST00000370323.4	-	4	490	c.174C>T	c.(172-174)tcC>tcT	p.S58S	MAGEA10_ENST00000244096.3_Silent_p.S58S|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	58	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggaggaagaggagg	0.552																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(172-174)tcC>tcT		melanoma antigen family A, 10							68	71	70					X																	151303919		2203	4300	6503	SO:0001819	synonymous_variant	4109							g.chrX:151303919G>A		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.174C>T	X.37:g.151303919G>A						MAGEA10_ENST00000244096.3_Silent_p.S58S|RP11-1007I13.4_ENST00000509345.2_RNA	p.S58S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	490	-	Acute lymphoblastic leukemia(192;6.56e-05)		58			Poly-Ser.			Silent	SNP	ENST00000370323.4	37	c.174C>T	CCDS14705.1																																																																																				0.552	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		3	40	0	0	0	1	0	3	40					A	151303919	G	A	151303919	2	1	436	1	0	0	0	0	0	0	0	1	9164	987	35	3		3	MAGEA10	23	151303919	Silent	SNP	G	TCGA-XK-AAJ3-01A-11D-A41K-08	106362088	151303919	3966641	64	30192											
DDX3Y	8653	broad.mit.edu	37	chrY	15028886	15028886	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttgttggatcttcttgtAgaagctaaacaagaagtgcc	12	13	10	6	0	2	2	0	0	2	2	2	4	2	3	1	1	3	3	1	1	6	6			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chrY:15028886A>C	ENST00000336079.3	+	15	1783	c.1677A>C	c.(1675-1677)gtA>gtC	p.V559V	DDX3Y_ENST00000360160.4_Silent_p.V559V	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	559	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						ATCTTCTTGTAGAAGCTAAAC	0.373																																						ENST00000336079.3																			0				kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(1675-1677)gtA>gtC		DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked							43	43	43					Y																	15028886		583	1915	2498	SO:0001819	synonymous_variant	8653					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	g.chrY:15028886A>C	AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"DEAD-boxes"	2699	protein-coding gene	gene with protein product		400010	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.1677A>C	Y.37:g.15028886A>C						DDX3Y_ENST00000360160.4_Silent_p.V559V	p.V559V	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN			15	1783	+			559			Helicase C-terminal.		B4DK29|B4DXX7|Q8IYV7	Silent	SNP	ENST00000336079.3	37	c.1677A>C	CCDS14782.1																																																																																				0.373	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1	NM_004660		16	4	0	0	0	1	0	16	4					C	15028886	A	C	15028886	2	2	436	1	0	0	0	0	0	0	0	1	4359	407	15	5		5	DDX3Y	24	15028886	Silent	SNP	A	TCGA-XK-AAJ3-01A-11D-A41K-08		15028886	44344680	65	30193											
CCNL2	81669	broad.mit.edu	37	chr1	1325728	1325728	+	Frame_Shift_Del	DEL	A	A	-																															tgctttcttttttccacttcAccctccaggtgtgtgagatc																										TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:1325728delA	ENST00000400809.3	-	8	893	c.888delT	c.(886-888)ggtfs	p.G296fs	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Frame_Shift_Del_p.G74fs	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	296					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTTCCACTTCACCCTCCAGGT	0.527																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(886-888)ggfs		cyclin L2							101	103	102					1																	1325728		2203	4296	6499	SO:0001589	frameshift_variant	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1325728delA	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"cyclin S"	613482	"cyclin M"	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.888delT	1.37:g.1325728delA	ENSP00000383611:p.Gly296fs					CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Frame_Shift_Del_p.G74fs	p.G296fs	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		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)	8	893	-	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)	296					A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Frame_Shift_Del	DEL	ENST00000400809.3	37	c.888delT	CCDS30557.1																																																																																				0.527	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		54	85						54	85	---	---	---	---	-	1325728	A	-	1325728	7	5	437	1	0	1	0	1	0	0	0	0	2932	146	6	0	690	0	CCNL2	1	1325728	Frame_Shift_Del	DEL	A	TCGA-XK-AAJA-01A-11D-A41K-08		1325728	247924893	1	30194											
WDR8	49856	broad.mit.edu	37	chr1	3548112	3548112	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgcagatggccagccgCggctgctgcgggtcccactg	4	6	15	16	4	0	1	0	0	0	1	1	1	1	1	4	3	4	3	4	3	0	0	rs565082127		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:3548112C>T	ENST00000270708.7	-	11	1231	c.1158G>A	c.(1156-1158)ccG>ccA	p.P386P	WRAP73_ENST00000378322.3_Silent_p.P386P	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	386						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						TGGCCAGCCGCGGCTGCTGCG	0.662													C|||	1	0.000199681	0	0	5008	,	,		15995	0.001		0	False		,,,				2504	0					ENST00000378322.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(1156-1158)ccG>ccA		WD repeat containing, antisense to TP73							21	23	22					1																	3548112		2193	4286	6479	SO:0001819	synonymous_variant	49856					centrosome	protein binding	g.chr1:3548112C>T	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"WD repeat domain containing"	12759	protein-coding gene	gene with protein product		606040	"WD repeat domain 8"	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.1158G>A	1.37:g.3548112C>T						WRAP73_ENST00000270708.7_Silent_p.P386P	p.P386P			Q9P2S5	WRP73_HUMAN			11	1216	-			386					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Silent	SNP	ENST00000270708.7	37	c.1158G>A	CCDS48.1																																																																																				0.662	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			7	12	0	0	0	1	0	7	12					T	3548112	C	T	3548112	2	4	437	1	0	0	0	0	0	0	0	1	17326	755	27	1		1	WDR8	1	3548112	Silent	SNP	C	TCGA-XK-AAJA-01A-11D-A41K-08	2222384	3548112	245702509	2	30195											
NBPF1	55672	broad.mit.edu	37	chr1	16913590	16913590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattcatcatgagaggattCtctgtctacaaccagagttg	12	12	8	9	0	4	2	2	1	2	2	5	4	4	3	1	1	2	1	1	1	2	4			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:16913590C>T	ENST00000430580.2	-	11	1620	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	245	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									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)		TGAGAGGATTCTCTGTCTACA	0.438																																						ENST00000430580.2																			0											c.(733-735)Gaa>Aaa		neuroblastoma breakpoint family, member 1							396	346	363					1																	16913590		2194	4287	6481	SO:0001583	missense	55672					cytoplasm		g.chr1:16913590C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.733G>A	1.37:g.16913590C>T	ENSP00000474456:p.Glu245Lys						p.E245K	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		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)	11	1620	-			245			NBPF 1.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.733G>A																																																																																					0.438	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		117	282	0	0	0	1	0	117	282					T	16913590	C	T	16913590	3	4	437	1	0	0	0	0	1	0	0	0	10192	922	32	3	2767	3	NBPF1	1	16913590	Missense_Mutation	SNP	C	TCGA-XK-AAJA-01A-11D-A41K-08	13365478	16913590	232337031	3	30196											
RCAN3	11123	broad.mit.edu	37	chr1	24861593	24861593	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgcaggagagaaataTgaacttcacgcgggaacaga	14	6	12	9	2	2	3	1	1	1	2	2	6	2	5	1	2	3	1	1	2	4	2			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:24861593T>C	ENST00000374395.4	+	5	865	c.552T>C	c.(550-552)taT>taC	p.Y184Y	RCAN3_ENST00000412742.2_Missense_Mutation_p.M127T|RCAN3_ENST00000538532.1_Silent_p.Y126Y|RCAN3_ENST00000436717.2_Silent_p.Y174Y|RCAN3_ENST00000374393.2_Missense_Mutation_p.M69T	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	184					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		GAGAGAAATATGAACTTCACG	0.423																																						ENST00000412742.2																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7						c.(379-381)aTg>aCg		RCAN family member 3							39	41	40					1																	24861593		2203	4300	6503	SO:0001819	synonymous_variant	11123				anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding	g.chr1:24861593T>C		CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"Down syndrome critical region gene 1-like 2"	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.552T>C	1.37:g.24861593T>C						RCAN3_ENST00000374395.4_Silent_p.Y184Y|RCAN3_ENST00000538532.1_Silent_p.Y126Y|RCAN3_ENST00000374393.2_Missense_Mutation_p.M69T|RCAN3_ENST00000436717.2_Silent_p.Y174Y	p.M127T	NM_001251982.1	NP_001238911.1	Q9UKA8	RCAN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)	3	433	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	127					A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	ENST00000374395.4	37	c.380T>C	CCDS254.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.572261	0.00887	.	.	ENSG00000117602	ENST00000412742;ENST00000374393	.	.	.	5.54	-4.89	0.03103	.	.	.	.	.	T	0.19046	0.0457	.	.	.	0.23010	N	0.998433	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42292	-0.9460	7	0.02654	T	1	-28.7151	16.3903	0.83532	0.0:0.3043:0.0:0.6957	.	69;127	E7EWD8;E7ENV1	.;.	T	127;69	.	ENSP00000363514:M69T	M	+	2	0	RCAN3	24734180	0.000000	0.05858	0.846000	0.33378	0.362000	0.29581	-2.281000	0.01157	-1.002000	0.03429	-0.146000	0.13790	ATG		0.423	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2			8	21	0	0	0	1	0	8	21					C	24861593	T	C	24861593	2	2	437	1	0	0	0	0	0	0	0	1	13170	1471	51	4		4	RCAN3	1	24861593	Silent	SNP	T	TCGA-XK-AAJA-01A-11D-A41K-08	7948003	24861593	224389028	4	30197											
RHBDL2	54933	broad.mit.edu	37	chr1	39381357	39381357	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtttctgaggcttccacAcagcatagtaaataaacact	14	11	6	10	0	1	1	0	1	1	0	2	1	2	1	1	1	2	4	1	1	5	5			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:39381357A>G	ENST00000289248.2	-	3	1280	c.272T>C	c.(271-273)gTg>gCg	p.V91A	RHBDL2_ENST00000372990.1_Missense_Mutation_p.V91A|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000540558.1_Missense_Mutation_p.V91A|RHBDL2_ENST00000372985.3_Missense_Mutation_p.V171A|RHBDL2_ENST00000538156.1_Missense_Mutation_p.V158A			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AGGCTTCCACACAGCATAGTA	0.517																																						ENST00000289248.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8						c.(271-273)gTg>gCg		rhomboid, veinlet-like 2 (Drosophila)							119	106	110					1																	39381357		2203	4300	6503	SO:0001583	missense	54933				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr1:39381357A>G	AK000442	CCDS30680.1	1p35.1	2014-01-28	2001-11-28		ENSG00000158315	ENSG00000158315			16083	protein-coding gene	gene with protein product		608962	"rhomboid (veinlet, Drosophila)-like 2"				Standard	NM_017821		Approved	FLJ20435	uc001ccu.1	Q9NX52	OTTHUMG00000000487	ENST00000289248.2:c.272T>C	1.37:g.39381357A>G	ENSP00000289248:p.Val91Ala					RHBDL2_ENST00000372985.3_Missense_Mutation_p.V171A|RHBDL2_ENST00000372990.1_Missense_Mutation_p.V91A|RHBDL2_ENST00000538156.1_Missense_Mutation_p.V158A|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000540558.1_Missense_Mutation_p.V91A	p.V91A			Q9NX52	RHBL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		3	1280	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	91					B2RNT3|B9EH75|Q6P175|Q8NER8|Q96E02	Missense_Mutation	SNP	ENST00000289248.2	37	c.272T>C	CCDS30680.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.325562	0.81580	.	.	ENSG00000158315	ENST00000372990;ENST00000289248;ENST00000538156;ENST00000372985;ENST00000540558	T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77	5.28	5.28	0.74379	.	0.132843	0.49305	D	0.000147	T	0.17959	0.0431	L	0.54323	1.7	0.80722	D	1	D;P;D	0.60575	0.983;0.92;0.988	P;B;P	0.51615	0.621;0.422;0.675	T	0.05767	-1.0865	10	0.17369	T	0.5	-14.1483	14.3335	0.66574	1.0:0.0:0.0:0.0	.	171;158;91	B7Z1Y9;B3KUN4;Q9NX52	.;.;RHBL2_HUMAN	A	91;91;158;171;91	ENSP00000362081:V91A;ENSP00000289248:V91A;ENSP00000439227:V158A;ENSP00000362076:V171A;ENSP00000441097:V91A	ENSP00000289248:V91A	V	-	2	0	RHBDL2	39153944	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.543000	0.90651	2.026000	0.59711	0.450000	0.29827	GTG		0.517	RHBDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001216.1	NM_017821		18	47	0	0	0	1	0	18	47					G	39381357	A	G	39381357	3	3	437	1	0	0	0	0	1	0	0	0	13322	159	6	4	663	4	RHBDL2	1	39381357	Missense_Mutation	SNP	A	TCGA-XK-AAJA-01A-11D-A41K-08	14519764	39381357	209869264	5	30198											
FNDC7	163479	broad.mit.edu	37	chr1	109268475	109268475	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactactatgtggtctttgtGaagagtgatgatggcttgga	9	14	14	4	0	1	4	0	3	1	1	1	6	1	5	0	3	1	1	0	3	3	4			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:109268475G>A	ENST00000370017.3	+	6	1237	c.960G>A	c.(958-960)gtG>gtA	p.V320V	FNDC7_ENST00000271311.2_Silent_p.V321V	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	320	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		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)		TGGTCTTTGTGAAGAGTGATG	0.468																																						ENST00000370017.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(958-960)gtG>gtA		fibronectin type III domain containing 7							215	189	198					1																	109268475		2203	4300	6503	SO:0001819	synonymous_variant	163479					extracellular region		g.chr1:109268475G>A		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.960G>A	1.37:g.109268475G>A						FNDC7_ENST00000271311.2_Silent_p.V321V	p.V320V	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	6	1237	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	321			Fibronectin type-III 4.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Silent	SNP	ENST00000370017.3	37	c.960G>A	CCDS44185.1	.	.	.	.	.	.	.	.	.	.	G	9.382	1.073225	0.20147	.	.	ENSG00000143107	ENST00000445274	.	.	.	5.9	4.99	0.66335	.	.	.	.	.	T	0.52175	0.1718	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54337	-0.8309	4	.	.	.	-12.8694	11.8051	0.52150	0.0668:0.1233:0.8099:0.0	.	.	.	.	K	96	.	.	E	+	1	0	FNDC7	109069998	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	1.547000	0.36190	1.509000	0.48786	0.655000	0.94253	GAA		0.468	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		29	96	0	0	0	1	0	29	96					A	109268475	G	A	109268475	2	1	437	1	0	0	0	0	0	0	0	1	5973	1277	45	3		3	FNDC7	1	109268475	Silent	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08	69887118	109268475	139982146	6	30199											
SHE	126669	broad.mit.edu	37	chr1	154461551	154461551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagagcccgcacgatctgctCcttcttccactcccatggct	6	10	7	18	2	2	1	0	0	2	1	5	2	5	1	4	1	2	3	4	1	0	2			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:154461551C>T	ENST00000304760.2	-	3	1086	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	334										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	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)			ACGATCTGCTCCTTCTTCCAC	0.667																																						ENST00000304760.2																			0				breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14						c.(1000-1002)Gag>Aag		Src homology 2 domain containing E							45	49	48					1																	154461551		2203	4299	6502	SO:0001583	missense	126669							g.chr1:154461551C>T	AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"SH2 domain containing"	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.1000G>A	1.37:g.154461551C>T	ENSP00000307369:p.Glu334Lys						p.E334K	NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	1086	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		334					Q8TEQ5	Missense_Mutation	SNP	ENST00000304760.2	37	c.1000G>A	CCDS30877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.432735|5.432735	0.96150|0.96150	.|.	.|.	ENSG00000169291|ENSG00000169291	ENST00000304760|ENST00000555188	T|.	0.35605|.	1.3|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.108809|.	0.64402|.	D|.	0.000010|.	T|T	0.73799|0.73799	0.3633|0.3633	M|M	0.79475|0.79475	2.455|2.455	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.48694|.	0.914|.	P|.	0.46419|.	0.516|.	T|T	0.72293|0.72293	-0.4336|-0.4336	10|5	0.38643|.	T|.	0.18|.	-14.9003|-14.9003	18.4498|18.4498	0.90699|0.90699	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	334|.	Q5VZ18|.	SHE_HUMAN|.	K|E	334|31	ENSP00000307369:E334K|.	ENSP00000307369:E334K|.	E|G	-|-	1|2	0|0	SHE|SHE	152728175|152728175	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	5.361000|5.361000	0.66092|0.66092	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.667	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087910.2	NM_001010846		4	59	0	0	0	1	0	4	59					T	154461551	C	T	154461551	3	4	437	1	0	0	0	0	1	0	0	0	14276	864	30	3	503	3	SHE	1	154461551	Missense_Mutation	SNP	C	TCGA-XK-AAJA-01A-11D-A41K-08	45193076	154461551	94789070	7	30200											
MSH2	4436	broad.mit.edu	37	chr2	47639666	47639666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaaaaagggagagcagatGaatagtgctgtattgccaga	15	7	14	5	0	0	4	0	1	0	3	0	5	0	4	1	2	3	4	1	2	5	3	rs267607931|rs63751160|rs587779179		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr2:47639666G>A	ENST00000233146.2	+	4	982	c.759G>A	c.(757-759)atG>atA	p.M253I	MSH2_ENST00000406134.1_Missense_Mutation_p.M253I|MSH2_ENST00000543555.1_Missense_Mutation_p.M187I	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	253					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAGAGCAGATGAATAGTGCTG	0.313			"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																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"D, Mis, N, F, S"	mutS homolog 2 (E. coli)			E		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(3)	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	GRCh37	CD066378|CD076833	MSH2	D		c.(757-759)atG>atA	Mismatch excision repair (MMR)	mutS homolog 2							75	74	74					2																	47639666		2203	4300	6503	SO:0001583	missense	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	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	g.chr2:47639666G>A	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.759G>A	2.37:g.47639666G>A	ENSP00000233146:p.Met253Ile					MSH2_ENST00000543555.1_Missense_Mutation_p.M187I|MSH2_ENST00000233146.2_Missense_Mutation_p.M253I	p.M253I			P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	821	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	253					B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	c.759G>A	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	G	9.806	1.181961	0.21787	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000448533;ENST00000394792;ENST00000413880	D;D;D	0.88124	-2.34;-2.34;-2.34	5.5	4.61	0.57282	DNA mismatch repair protein MutS, connector (1);	0.641937	0.17671	N	0.165972	T	0.77798	0.4184	N	0.24115	0.695	0.39289	D	0.964702	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.72110	-0.4389	10	0.33940	T	0.23	-1.1975	9.6687	0.40000	0.0718:0.0:0.7888:0.1395	.	187;253;253;253	B4E2Z2;E7EQQ1;E9PHA6;P43246	.;.;.;MSH2_HUMAN	I	253;187;253;253;253;253;253;253;89	ENSP00000233146:M253I;ENSP00000442697:M187I;ENSP00000384199:M253I	ENSP00000233146:M253I	M	+	3	0	MSH2	47493170	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	0.950000	0.29122	1.325000	0.45301	0.558000	0.71614	ATG		0.313	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			15	46	0	0	0	1	0	15	46					A	47639666	G	A	47639666	3	1	437	1	0	0	0	0	1	0	0	0	9870	1290	45	3	773	3	MSH2	2	47639666	Missense_Mutation	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08		47639666	195559707	8	30201											
SCN5A	6331	broad.mit.edu	37	chr3	38645555	38645555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagtcctgctgaggccaCgggtgaggctgagatgattc	9	9	15	8	1	0	5	0	4	0	2	2	6	1	5	2	3	1	2	2	3	2	2	rs397517951		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr3:38645555C>T	ENST00000333535.4	-	12	1687	c.1538G>A	c.(1537-1539)cGt>cAt	p.R513H	SCN5A_ENST00000423572.2_Missense_Mutation_p.R513H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R513H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R513H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R513H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R513H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R513H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R513H|SCN5A_ENST00000413689.1_Missense_Mutation_p.R513H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R513H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	513					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTGAGGCCACGGGTGAGGCT	0.552																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1537-1539)cGt>cAt		sodium channel, voltage-gated, type V, alpha subunit	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)						27	27	27					3																	38645555		2041	4215	6256	SO:0001583	missense	6331				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	g.chr3:38645555C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1538G>A	3.37:g.38645555C>T	ENSP00000328968:p.Arg513His					SCN5A_ENST00000414099.2_Missense_Mutation_p.R513H|SCN5A_ENST00000333535.4_Missense_Mutation_p.R513H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R513H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R513H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R513H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R513H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R513H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R513H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R513H	p.R513H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	12	1731	-	Medulloblastoma(35;0.163)		513					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.1538G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	T	0.084	-1.178695	0.01633	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28	3.83	1.33	0.21861	Domain of unknown function DUF3451 (1);	1.280950	0.05214	N	0.507293	D	0.82875	0.5132	N	0.04880	-0.145	0.09310	N	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.001;0.0;0.0;0.0;0.0;0.0	T	0.69756	-0.5059	10	0.41790	T	0.15	.	0.9856	0.01445	0.1443:0.1864:0.2964:0.3729	.	513;513;513;513;513;513;513	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	H	513	ENSP00000398962:R513H;ENSP00000398266:R513H;ENSP00000410257:R513H;ENSP00000388797:R513H;ENSP00000397915:R513H;ENSP00000416634:R513H;ENSP00000328968:R513H;ENSP00000399524:R513H;ENSP00000403355:R513H;ENSP00000413996:R513H	ENSP00000328968:R513H	R	-	2	0	SCN5A	38620559	0.001000	0.12720	0.014000	0.15608	0.106000	0.19336	0.147000	0.16202	-0.180000	0.10637	-0.361000	0.07541	CGT		0.552	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		7	8	0	0	0	1	0	7	8					T	38645555	C	T	38645555	3	4	437	1	0	0	0	0	1	0	0	0	13922	536	19	1	4580	1	SCN5A	3	38645555	Missense_Mutation	SNP	C	TCGA-XK-AAJA-01A-11D-A41K-08		38645555	159376875	9	30202											
EEFSEC	60678	broad.mit.edu	37	chr3	127965801	127965801	+	Frame_Shift_Del	DEL	A	A	-																															agctggtcgtggtgctgaacAaaatagacctcttacctgaa																										TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr3:127965801delA	ENST00000254730.6	+	2	493	c.439delA	c.(439-441)aaafs	p.K147fs	EEFSEC_ENST00000483457.1_Frame_Shift_Del_p.K147fs	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	147	G4. {ECO:0000255|PROSITE- ProRule:PRU01059}.|tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GGTGCTGAACAAAATAGACCT	0.493																																						ENST00000254730.6																			0				NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						c.(439-441)aafs		eukaryotic elongation factor, selenocysteine-tRNA-specific							178	179	179					3																	127965801		2203	4300	6503	SO:0001589	frameshift_variant	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:127965801delA		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"elongation factor for selenoprotein translation"	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.439delA	3.37:g.127965801delA	ENSP00000254730:p.Lys147fs					EEFSEC_ENST00000483457.1_Frame_Shift_Del_p.K147fs	p.K147fs	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN			2	493	+			147					Q96HZ6	Frame_Shift_Del	DEL	ENST00000254730.6	37	c.439delA	CCDS33849.1																																																																																				0.493	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		47	150						47	150	---	---	---	---	-	127965801	A	-	127965801	7	5	437	1	0	1	0	1	0	0	0	0	4931	131	5	0	445	0	EEFSEC	3	127965801	Frame_Shift_Del	DEL	A	TCGA-XK-AAJA-01A-11D-A41K-08	89320246	127965801	70056629	10	30203											
EPHB1	2047	broad.mit.edu	37	chr3	134670606	134670606	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcctcttactcggaatggtTtttacctcgcttttcaggat	6	16	9	10	2	2	0	1	0	1	0	4	2	2	2	2	4	2	2	2	4	3	6			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr3:134670606T>G	ENST00000398015.3	+	3	887	c.517T>G	c.(517-519)Ttt>Gtt	p.F173V	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	173	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCGGAATGGTTTTTACCTCGC	0.463																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(517-519)Ttt>Gtt		EPH receptor B1							250	242	245					3																	134670606		1932	4151	6083	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670606T>G	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.517T>G	3.37:g.134670606T>G	ENSP00000381097:p.Phe173Val					EPHB1_ENST00000488154.1_Intron	p.F173V	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			3	887	+			173					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.517T>G	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382584	0.82792	.	.	ENSG00000154928	ENST00000398015	T	0.12147	2.71	5.49	5.49	0.81192	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	L	0.58810	1.83	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.01771	-1.1277	9	.	.	.	.	15.6027	0.76636	0.0:0.0:0.0:1.0	.	173	P54762	EPHB1_HUMAN	V	173	ENSP00000381097:F173V	.	F	+	1	0	EPHB1	136153296	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.085000	0.62840	0.533000	0.62120	TTT		0.463	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		9	164	0	0	0	1	0	9	164					G	134670606	T	G	134670606	3	3	437	1	0	0	0	0	1	0	0	0	5174	1841	64	5	527	5	EPHB1	3	134670606	Missense_Mutation	SNP	T	TCGA-XK-AAJA-01A-11D-A41K-08	6704805	134670606	63351824	11	30204											
EIF2B5	8893	broad.mit.edu	37	chr3	183862680	183862680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcttctttacagctgcagagGttcatccagtggctaaaaga	11	11	10	9	0	2	2	1	0	1	2	3	2	3	2	1	2	3	5	1	2	3	5			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr3:183862680G>T	ENST00000273783.3	+	16	2237	c.2115G>T	c.(2113-2115)agG>agT	p.R705S	EIF2B5_ENST00000444495.1_Intron	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	705	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGCTGCAGAGGTTCATCCAGT	0.542																																						ENST00000273783.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(2113-2115)agG>agT		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa							67	66	66					3																	183862680		2203	4300	6503	SO:0001583	missense	8893				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	g.chr3:183862680G>T	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.2115G>T	3.37:g.183862680G>T	ENSP00000273783:p.Arg705Ser					EIF2B5_ENST00000444495.1_Intron	p.R705S	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		16	2237	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		705			W2.		Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	c.2115G>T	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	g	12.90	2.077260	0.36662	.	.	ENSG00000145191	ENST00000273783	T	0.79653	-1.29	5.9	3.89	0.44902	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.250941	0.44285	D	0.000471	T	0.68997	0.3062	L	0.31752	0.955	0.80722	D	1	B	0.23854	0.092	B	0.21151	0.033	T	0.63418	-0.6642	10	0.18710	T	0.47	.	13.8548	0.63519	0.0:0.1111:0.7607:0.1281	.	705	Q13144	EI2BE_HUMAN	S	705	ENSP00000273783:R705S	ENSP00000273783:R705S	R	+	3	2	EIF2B5	185345374	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.234000	0.51320	1.468000	0.48064	0.655000	0.94253	AGG		0.542	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			7	39	1	0	0.00307968	1	0.00320624	7	39					T	183862680	G	T	183862680	3	4	437	1	0	0	0	0	1	0	0	0	5004	1252	44	5	2177	5	EIF2B5	3	183862680	Missense_Mutation	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08	49192074	183862680	14159750	12	30205											
ECE2	9718	broad.mit.edu	37	chr3	183996103	183996103	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagcaatgttatccaggTgatgagctgggaaagggtgg	12	8	15	6	0	0	2	0	2	0	0	1	3	1	3	1	4	3	3	1	4	4	1			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr3:183996103T>C	ENST00000402825.3	+	6	1104		c.e6+2		ECE2_ENST00000404464.3_Splice_Site|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Splice_Site|ECE2_ENST00000359140.4_Splice_Site	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTTATCCAGGTGATGAGCTGG	0.582																																						ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.e6+2		endothelin converting enzyme 2							59	58	59					3																	183996103		2203	4300	6503	SO:0001630	splice_region_variant	9718				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	g.chr3:183996103T>C	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1104+2T>C	3.37:g.183996103T>C						ECE2_ENST00000359140.4_Splice_Site|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Splice_Site|ECE2_ENST00000404464.3_Splice_Site		NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	1104	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)							A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Splice_Site	SNP	ENST00000402825.3	37		CCDS3256.2	.	.	.	.	.	.	.	.	.	.	T	16.55	3.153745	0.57259	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1864	0.59684	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ECE2	185478797	1.000000	0.71417	0.968000	0.41197	0.738000	0.42128	7.351000	0.79395	1.994000	0.58287	0.379000	0.24179	.		0.582	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693	Intron	10	45	0	0	0	1	0	10	45					C	183996103	T	C	183996103	5	2	437	1	0	0	0	0	0	0	1	0	4890	1710	59	4	1692	4	ECE2	3	183996103	Splice_Site	SNP	T	TCGA-XK-AAJA-01A-11D-A41K-08	133423	183996103	14026327	13	30206											
RTP1	132112	broad.mit.edu	37	chr3	186917530	186917530	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatcgagggcctggtggAcaacctcatcaccagcctgc	10	6	11	14	1	2	0	2	0	0	0	3	3	2	1	4	3	4	0	4	3	2	0			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr3:186917530A>C	ENST00000312295.4	+	2	494	c.464A>C	c.(463-465)gAc>gCc	p.D155A	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	155					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GGCCTGGTGGACAACCTCATC	0.677																																						ENST00000312295.4																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(463-465)gAc>gCc		receptor (chemosensory) transporter protein 1							28	27	27					3																	186917530		2203	4298	6501	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917530A>C	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"Receptor transporter proteins"	28580	protein-coding gene	gene with protein product	"receptor transporting protein 1", "zinc finger, 3CxxC-type 1"	609137	"receptor transporter protein 1"			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.464A>C	3.37:g.186917530A>C	ENSP00000311712:p.Asp155Ala					RP11-208N14.4_ENST00000356133.3_RNA	p.D155A	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	494	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		155						Missense_Mutation	SNP	ENST00000312295.4	37	c.464A>C	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.979865	0.74360	.	.	ENSG00000175077	ENST00000312295	T	0.21543	2.0	5.7	4.54	0.55810	.	0.237500	0.48767	D	0.000175	T	0.29158	0.0725	L	0.47716	1.5	0.28240	N	0.925721	D	0.54964	0.969	P	0.55455	0.776	T	0.07347	-1.0777	10	0.42905	T	0.14	.	8.673	0.34163	0.9136:0.0:0.0864:0.0	.	155	P59025	RTP1_HUMAN	A	155	ENSP00000311712:D155A	ENSP00000311712:D155A	D	+	2	0	RTP1	188400224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.956000	0.56722	0.996000	0.38943	0.459000	0.35465	GAC		0.677	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		6	29	0	0	0	1	0	6	29					C	186917530	A	C	186917530	3	2	437	1	0	0	0	0	1	0	0	0	13733	275	10	5	470	5	RTP1	3	186917530	Missense_Mutation	SNP	A	TCGA-XK-AAJA-01A-11D-A41K-08	2921427	186917530	11104900	14	30207											
ANXA5	308	broad.mit.edu	37	chr4	122602847	122602847	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcataaacttgtttgaTggctctcagttcttcaggtg	7	18	8	8	0	5	1	3	1	3	0	6	1	5	1	0	2	1	3	0	2	2	7			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr4:122602847T>C	ENST00000296511.5	-	6	658	c.373A>G	c.(373-375)Atc>Gtc	p.I125V	ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000515017.1_Intron|ANXA5_ENST00000501272.2_Missense_Mutation_p.I65V	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	125					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						ACTTGTTTGATGGCTCTCAGT	0.358																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	ENST00000296511.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(373-375)Atc>Gtc		annexin A5							212	196	202					4																	122602847		2203	4300	6503	SO:0001583	missense	308				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr4:122602847T>C	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"Annexins"	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.373A>G	4.37:g.122602847T>C	ENSP00000296511:p.Ile125Val					ANXA5_ENST00000501272.2_Missense_Mutation_p.I65V|ANXA5_ENST00000515017.1_Intron|ANXA5_ENST00000509016.1_5'UTR	p.I125V	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN			6	658	-			125					D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Missense_Mutation	SNP	ENST00000296511.5	37	c.373A>G	CCDS3720.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959689	0.74016	.	.	ENSG00000164111	ENST00000296511;ENST00000512232;ENST00000501272	T;T	0.04551	3.6;3.6	5.92	4.72	0.59763	Annexin repeat, conserved site (1);	0.042683	0.85682	N	0.000000	T	0.18841	0.0452	M	0.71871	2.18	0.80722	D	1	D;P;D	0.64830	0.989;0.795;0.994	D;P;D	0.85130	0.997;0.714;0.996	T	0.00143	-1.1995	10	0.62326	D	0.03	.	11.2547	0.49048	0.0:0.073:0.0:0.927	.	65;125;125	D6RBL5;E7ENQ5;P08758	.;.;ANXA5_HUMAN	V	125;125;65	ENSP00000296511:I125V;ENSP00000424106:I65V	ENSP00000296511:I125V	I	-	1	0	ANXA5	122822297	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.715000	0.47210	1.049000	0.40321	0.533000	0.62120	ATC		0.358	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154		4	52	0	0	0	1	0	4	52					C	122602847	T	C	122602847	3	2	437	1	0	0	0	0	1	0	0	0	721	1464	51	4	621	4	ANXA5	4	122602847	Missense_Mutation	SNP	T	TCGA-XK-AAJA-01A-11D-A41K-08		122602847	68551429	15	30208											
KLHL2	11275	broad.mit.edu	37	chr4	166218865	166218865	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacctttgcttcctcgggaAtatttagttcaggtaaatgc	9	16	8	8	1	1	0	1	0	0	0	3	1	2	1	2	2	3	3	2	2	6	8			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr4:166218865A>G	ENST00000226725.6	+	7	1018	c.759A>G	c.(757-759)gaA>gaG	p.E253E	KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000421009.2_Silent_p.E156E|KLHL2_ENST00000514860.1_Silent_p.E257E|KLHL2_ENST00000506761.1_Silent_p.E87E|KLHL2_ENST00000538127.1_Silent_p.E165E	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	253					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TTCCTCGGGAATATTTAGTTC	0.443																																						ENST00000226725.6																			0				endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(757-759)gaA>gaG		kelch-like family member 2							131	105	114					4																	166218865		2203	4300	6503	SO:0001819	synonymous_variant	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166218865A>G	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"Kelch-like", "BTB/POZ domain containing"	6353	protein-coding gene	gene with protein product	"mayven"	605774	"kelch (Drosophila)-like 2 (Mayven)", "kelch-like 2, Mayven (Drosophila)"			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.759A>G	4.37:g.166218865A>G						KLHL2_ENST00000506761.1_Silent_p.E87E|KLHL2_ENST00000538127.1_Silent_p.E165E|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Silent_p.E257E|KLHL2_ENST00000421009.2_Silent_p.E156E	p.E253E	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN		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)	7	1018	+	all_hematologic(180;0.221)		253					A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Silent	SNP	ENST00000226725.6	37	c.759A>G	CCDS34094.1																																																																																				0.443	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			5	67	0	0	0	1	0	5	67					G	166218865	A	G	166218865	2	3	437	1	0	0	0	0	0	0	0	1	8374	98	4	4		4	KLHL2	4	166218865	Silent	SNP	A	TCGA-XK-AAJA-01A-11D-A41K-08	43616018	166218865	24935411	16	30209											
PCDHB6	56130	broad.mit.edu	37	chr5	140530025	140530025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagctggcttcgcggggcGctcgggttgttttcaaaggg	4	10	19	8	4	1	0	1	0	0	0	3	1	1	1	0	6	1	5	0	6	1	4			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr5:140530025G>A	ENST00000231136.1	+	1	187	c.187G>A	c.(187-189)Gct>Act	p.A63T	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	63	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			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)			TTCGCGGGGCGCTCGGGTTGT	0.517																																						ENST00000231136.1																			0				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						c.(187-189)Gct>Act									81	91	87					5																	140530025		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530025G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.187G>A	5.37:g.140530025G>A	ENSP00000231136:p.Ala63Thr					PCDHB6_ENST00000543635.1_Intron	p.A63T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	187	+			63			Cadherin 1.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.187G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557460	0.27827	.	.	ENSG00000113211	ENST00000231136	T	0.38240	1.15	4.97	4.97	0.65823	Cadherin, N-terminal (1);Cadherin (2);	.	.	.	.	T	0.65154	0.2664	M	0.91972	3.26	0.80722	D	1	D	0.65815	0.995	D	0.66716	0.946	T	0.71192	-0.4665	9	0.48119	T	0.1	.	13.5479	0.61715	0.0:0.0:0.8442:0.1558	.	63	Q9Y5E3	PCDB6_HUMAN	T	63	ENSP00000231136:A63T	ENSP00000231136:A63T	A	+	1	0	PCDHB6	140510209	0.000000	0.05858	0.334000	0.25495	0.041000	0.13682	0.183000	0.16919	2.454000	0.82982	0.561000	0.74099	GCT		0.517	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		21	66	0	0	0	1	0	21	66					A	140530025	G	A	140530025	3	1	437	1	0	0	0	0	1	0	0	0	11546	1087	38	1	189	1	PCDHB6	5	140530025	Missense_Mutation	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08		140530025	40385235	17	30210											
PCDHGB6	56100	broad.mit.edu	37	chr5	140789302	140789302	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcagtgagcgcgcagagCggggtggtgttcgcgcagcg	5	7	20	9	6	1	2	1	1	0	1	2	2	1	2	0	3	3	3	0	3	0	1			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr5:140789302C>T	ENST00000520790.1	+	1	1533	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	511	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCAGAGCGGGGTGGTGT	0.662																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(1531-1533)agC>agT									21	23	22					5																	140789302		2024	4171	6195	SO:0001819	synonymous_variant	0							g.chr5:140789302C>T	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1533C>T	5.37:g.140789302C>T						PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	p.S511S	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1533	+								Q9Y5C5	Silent	SNP	ENST00000520790.1	37	c.1533C>T	CCDS54929.1																																																																																				0.662	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		7	30	0	0	0	1	0	7	30					T	140789302	C	T	140789302	2	4	437	1	0	0	0	0	0	0	0	1	11567	767	27	1		1	PCDHGB6	5	140789302	Silent	SNP	C	TCGA-XK-AAJA-01A-11D-A41K-08	259277	140789302	40125958	18	30211											
BTN3A3	10384	broad.mit.edu	37	chr6	26444283	26444283	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgaccatgagtgcagagAccatggagctgaggtgggtg	9	7	16	9	1	0	3	0	2	0	1	1	6	1	4	3	3	2	2	3	3	0	0			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr6:26444283A>G	ENST00000244519.2	+	4	427	c.184A>G	c.(184-186)Acc>Gcc	p.T62A	BTN3A3_ENST00000361232.3_Missense_Mutation_p.T20A|BTN3A3_ENST00000339789.4_Missense_Mutation_p.T20A	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	62	Ig-like V-type 1.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GAGTGCAGAGACCATGGAGCT	0.572																																						ENST00000244519.2																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(184-186)Acc>Gcc		butyrophilin, subfamily 3, member A3							232	195	208					6																	26444283		2201	4298	6499	SO:0001583	missense	10384					integral to membrane		g.chr6:26444283A>G	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.184A>G	6.37:g.26444283A>G	ENSP00000244519:p.Thr62Ala					BTN3A3_ENST00000361232.3_Missense_Mutation_p.T20A|BTN3A3_ENST00000339789.4_Missense_Mutation_p.T20A	p.T62A	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN			4	427	+			62			Ig-like V-type 1.		B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.184A>G	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	A	7.044	0.563131	0.13498	.	.	ENSG00000111801	ENST00000494393;ENST00000482451;ENST00000244519;ENST00000339789;ENST00000471353;ENST00000361232;ENST00000487627;ENST00000496719;ENST00000490254;ENST00000476281;ENST00000487272	T;T;T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	2.74	-5.47	0.02600	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.21347	0.0514	N	0.25647	0.755	0.09310	N	1	P;P	0.44429	0.835;0.835	P;P	0.46685	0.524;0.524	T	0.17561	-1.0365	9	0.05959	T	0.93	.	7.9051	0.29757	0.297:0.5642:0.0:0.1388	.	20;62	E9PCP5;O00478	.;BT3A3_HUMAN	A	62;44;62;20;20;20;20;62;20;20;20	ENSP00000417234:T62A;ENSP00000419312:T44A;ENSP00000244519:T62A;ENSP00000344968:T20A;ENSP00000417717:T20A;ENSP00000355238:T20A;ENSP00000420339:T20A;ENSP00000420147:T62A;ENSP00000419736:T20A;ENSP00000419445:T20A	ENSP00000244519:T62A	T	+	1	0	BTN3A3	26552262	0.000000	0.05858	0.000000	0.03702	0.847000	0.48162	-3.121000	0.00595	-1.435000	0.01972	0.454000	0.30748	ACC		0.572	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		20	85	0	0	0	1	0	20	85					G	26444283	A	G	26444283	3	3	437	1	0	0	0	0	1	0	0	0	1564	275	10	4	190	4	BTN3A3	6	26444283	Missense_Mutation	SNP	A	TCGA-XK-AAJA-01A-11D-A41K-08		26444283	144670784	19	30212											
TRMT11	60487	broad.mit.edu	37	chr6	126319277	126319277	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaactaccctgtggagaaGatggtgcgtagtaaaatgtg	15	9	12	5	1	0	2	0	0	0	2	0	3	0	2	1	2	3	2	1	2	7	3			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr6:126319277G>C	ENST00000334379.5	+	4	412	c.291G>C	c.(289-291)aaG>aaC	p.K97N	TRMT11_ENST00000450358.1_Missense_Mutation_p.K97N|TRMT11_ENST00000368332.3_Missense_Mutation_p.K97N	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	97					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		CTGTGGAGAAGATGGTGCGTA	0.358																																						ENST00000334379.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(289-291)aaG>aaC		tRNA methyltransferase 11 homolog (S. cerevisiae)							118	122	120					6																	126319277		2203	4300	6503	SO:0001583	missense	60487				tRNA processing		methyltransferase activity|nucleic acid binding	g.chr6:126319277G>C	AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 75"	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.291G>C	6.37:g.126319277G>C	ENSP00000333934:p.Lys97Asn					TRMT11_ENST00000450358.1_Missense_Mutation_p.K97N|TRMT11_ENST00000368332.3_Missense_Mutation_p.K97N	p.K97N	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN		GBM - Glioblastoma multiforme(226;0.0356)	4	412	+			97					E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	ENST00000334379.5	37	c.291G>C	CCDS35496.1	.	.	.	.	.	.	.	.	.	.	G	8.727	0.915710	0.17907	.	.	ENSG00000066651	ENST00000334379;ENST00000450358;ENST00000368332;ENST00000444121;ENST00000446681	T;T;T	0.46819	0.86;0.86;0.86	5.71	5.71	0.89125	.	0.230214	0.51477	D	0.000095	T	0.14313	0.0346	N	0.17312	0.475	0.47905	D	0.999549	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.002	T	0.13442	-1.0509	10	0.16420	T	0.52	-20.7359	8.9524	0.35796	0.0736:0.0:0.7773:0.1491	.	97;97	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	N	97;97;97;34;34	ENSP00000333934:K97N;ENSP00000405140:K97N;ENSP00000357316:K97N	ENSP00000333934:K97N	K	+	3	2	TRMT11	126360970	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	1.760000	0.38430	2.685000	0.91497	0.563000	0.77884	AAG		0.358	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820		13	77	0	0	0	1	0	13	77					C	126319277	G	C	126319277	3	2	437	1	0	0	0	0	1	0	0	0	16559	933	33	5	305	5	TRMT11	6	126319277	Missense_Mutation	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08	99874994	126319277	44795790	20	30213											
TRMT11	60487	broad.mit.edu	37	chr6	126319702	126319702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtttcttttaggcacttGaatttctgccatttgaagga	8	19	8	6	0	2	2	0	2	2	0	2	3	2	3	1	2	1	2	1	2	3	7			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr6:126319702G>A	ENST00000334379.5	+	6	515	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	TRMT11_ENST00000450358.1_Missense_Mutation_p.E132K|TRMT11_ENST00000368332.3_Missense_Mutation_p.E132K	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	132					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		TTAGGCACTTGAATTTCTGCC	0.338																																						ENST00000334379.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(394-396)Gaa>Aaa		tRNA methyltransferase 11 homolog (S. cerevisiae)							60	60	60					6																	126319702		2203	4299	6502	SO:0001583	missense	60487				tRNA processing		methyltransferase activity|nucleic acid binding	g.chr6:126319702G>A	AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 75"	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.394G>A	6.37:g.126319702G>A	ENSP00000333934:p.Glu132Lys					TRMT11_ENST00000450358.1_Missense_Mutation_p.E132K|TRMT11_ENST00000368332.3_Missense_Mutation_p.E132K	p.E132K	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN		GBM - Glioblastoma multiforme(226;0.0356)	6	515	+			132					E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	ENST00000334379.5	37	c.394G>A	CCDS35496.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476597	0.84640	.	.	ENSG00000066651	ENST00000334379;ENST00000450358;ENST00000368332;ENST00000444121;ENST00000446681	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.95	5.95	0.96441	.	0.090793	0.85682	D	0.000000	T	0.30355	0.0762	L	0.40543	1.245	0.80722	D	1	B;P	0.47762	0.046;0.9	B;P	0.45794	0.059;0.493	T	0.14117	-1.0484	10	0.06099	T	0.92	-24.4932	20.3931	0.98965	0.0:0.0:1.0:0.0	.	132;132	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	K	132;132;132;69;69	ENSP00000333934:E132K;ENSP00000405140:E132K;ENSP00000357316:E132K;ENSP00000406230:E69K;ENSP00000415724:E69K	ENSP00000333934:E132K	E	+	1	0	TRMT11	126361395	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.016000	0.88706	2.824000	0.97209	0.655000	0.94253	GAA		0.338	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820		16	79	0	0	0	1	0	16	79					A	126319702	G	A	126319702	3	1	437	1	0	0	0	0	1	0	0	0	16559	1291	45	3	416	3	TRMT11	6	126319702	Missense_Mutation	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08	425	126319702	44795365	21	30214											
SYNJ2	8871	broad.mit.edu	37	chr6	158495667	158495667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggcgatttcaactaccGcattgatcttacttatgaag	10	14	9	8	2	2	2	1	2	1	0	2	3	2	2	1	1	3	1	1	1	5	5			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr6:158495667G>A	ENST00000355585.4	+	16	2264	c.2189G>A	c.(2188-2190)cGc>cAc	p.R730H	SYNJ2_ENST00000367121.3_Missense_Mutation_p.R730H|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R730H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	730					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			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)		TTCAACTACCGCATTGATCTT	0.358																																						ENST00000355585.4																			0				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						c.(2188-2190)cGc>cAc		synaptojanin 2							123	116	118					6																	158495667		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158495667G>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2189G>A	6.37:g.158495667G>A	ENSP00000347792:p.Arg730His					SYNJ2_ENST00000367122.2_Missense_Mutation_p.R730H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R730H	p.R730H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	16	2264	+			730					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.2189G>A	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	35	5.500906	0.96371	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	D;D;D	0.96265	-3.96;-3.96;-3.96	5.9	5.9	0.94986	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.107616	0.40818	N	0.001011	D	0.98957	0.9645	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96920	0.9673	10	0.87932	D	0	.	20.331	0.98715	0.0:0.0:1.0:0.0	.	730;730	O15056;O15056-3	SYNJ2_HUMAN;.	H	730	ENSP00000356089:R730H;ENSP00000356088:R730H;ENSP00000347792:R730H	ENSP00000347792:R730H	R	+	2	0	SYNJ2	158415655	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	9.594000	0.98254	0.362000	0.24319	-0.188000	0.12872	CGC		0.358	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			4	71	0	0	0	1	0	4	71					A	158495667	G	A	158495667	3	1	437	1	0	0	0	0	1	0	0	0	15450	1087	38	1	2251	1	SYNJ2	6	158495667	Missense_Mutation	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08	32175965	158495667	12619400	22	30215											
CCT6A	908	broad.mit.edu	37	chr7	56126355	56126355	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctctttcaaaagaaggcAtagttgctctgcgcagagct	11	11	10	9	1	3	2	1	0	2	2	3	2	3	2	0	1	4	6	0	1	4	3			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr7:56126355A>G	ENST00000275603.4	+	8	1147	c.928A>G	c.(928-930)Ata>Gta	p.I310V	CCT6A_ENST00000540286.1_Missense_Mutation_p.I279V|SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000335503.3_Missense_Mutation_p.I265V	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	310					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			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)			AAAAGAAGGCATAGTTGCTCT	0.338																																						ENST00000275603.4																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(928-930)Ata>Gta		chaperonin containing TCP1, subunit 6A (zeta 1)							63	66	65					7																	56126355		2203	4300	6503	SO:0001583	missense	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56126355A>G	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"Heat Shock Proteins / Chaperonins"	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.928A>G	7.37:g.56126355A>G	ENSP00000275603:p.Ile310Val					CCT6A_ENST00000335503.3_Missense_Mutation_p.I265V|CCT6A_ENST00000540286.1_Missense_Mutation_p.I279V	p.I310V	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	1147	+	Breast(14;0.214)		310					A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	c.928A>G	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354754	0.61293	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	D;D;D	0.81996	-1.56;-1.56;-1.56	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.82235	0.4993	L	0.58669	1.825	0.80722	D	1	P;P;B	0.36183	0.542;0.508;0.093	B;B;B	0.39876	0.288;0.312;0.086	T	0.82382	-0.0485	10	0.46703	T	0.11	-13.0798	14.4629	0.67465	1.0:0.0:0.0:0.0	.	279;265;310	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	V	310;265;279;168	ENSP00000275603:I310V;ENSP00000352019:I265V;ENSP00000438488:I279V	ENSP00000275603:I310V	I	+	1	0	CCT6A	56093849	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.719000	0.74718	2.085000	0.62840	0.402000	0.26972	ATA		0.338	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		4	67	0	0	0	1	0	4	67					G	56126355	A	G	56126355	3	3	437	1	0	0	0	0	1	0	0	0	2957	217	8	4	958	4	CCT6A	7	56126355	Missense_Mutation	SNP	A	TCGA-XK-AAJA-01A-11D-A41K-08		56126355	103012308	23	30216											
MKRN1	23608	broad.mit.edu	37	chr7	140158862	140158862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaggacctgcagcccaCacatgtcacaagaatctccg	12	6	9	14	1	2	1	1	0	1	1	3	3	2	2	3	1	3	2	3	1	2	0			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr7:140158862C>T	ENST00000255977.2	-	4	940	c.716G>A	c.(715-717)tGt>tAt	p.C239Y	MKRN1_ENST00000474576.1_Missense_Mutation_p.C175Y|MKRN1_ENST00000481705.1_5'Flank|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.C239Y	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	239	Makorin-type Cys-His.				protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTGCAGCCCACACATGTCACA	0.507																																						ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(715-717)tGt>tAt		makorin ring finger protein 1							105	100	101					7																	140158862		2203	4300	6503	SO:0001583	missense	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140158862C>T	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"RING-type (C3HC4) zinc fingers"	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.716G>A	7.37:g.140158862C>T	ENSP00000255977:p.Cys239Tyr					MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.C239Y|MKRN1_ENST00000474576.1_Missense_Mutation_p.C175Y	p.C239Y	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			4	940	-	Melanoma(164;0.00956)		239			Makorin-type Cys-His.		A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	c.716G>A	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760795	0.89932	.	.	ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000474576;ENST00000443720;ENST00000471104	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	4.91	4.91	0.64330	.	0.042770	0.85682	D	0.000000	T	0.76593	0.4009	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.83172	-0.0093	10	0.87932	D	0	.	18.2987	0.90155	0.0:1.0:0.0:0.0	.	239	Q9UHC7	MKRN1_HUMAN	Y	239;175;175;239;175	ENSP00000255977:C239Y;ENSP00000417863:C175Y;ENSP00000416369:C239Y;ENSP00000418864:C175Y	ENSP00000255977:C239Y	C	-	2	0	MKRN1	139805331	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.223000	0.78033	2.556000	0.86216	0.555000	0.69702	TGT		0.507	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		8	77	0	0	0	1	0	8	77					T	140158862	C	T	140158862	3	4	437	1	0	0	0	0	1	0	0	0	9606	478	17	3	756	3	MKRN1	7	140158862	Missense_Mutation	SNP	C	TCGA-XK-AAJA-01A-11D-A41K-08	84032507	140158862	18979801	24	30217											
CSMD1	64478	broad.mit.edu	37	chr8	2820829	2820829	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagagctggtaaccgtccatGcagctgtaacttatgctgga	10	10	12	9	1	0	1	0	0	0	1	1	3	1	2	2	2	6	6	2	2	3	3			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr8:2820829G>A	ENST00000520002.1	-	61	9927	c.9372C>T	c.(9370-9372)tgC>tgT	p.C3124C	CSMD1_ENST00000400186.3_Silent_p.C2947C|CSMD1_ENST00000542608.1_Silent_p.C2946C|CSMD1_ENST00000602557.1_Silent_p.C3124C|CSMD1_ENST00000537824.1_Silent_p.C3123C|CSMD1_ENST00000602723.1_Silent_p.C2947C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3124	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				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)		AACCGTCCATGCAGCTGTAAC	0.572																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(9370-9372)tgC>tgT		CUB and Sushi multiple domains 1							112	120	117					8																	2820829		1967	4164	6131	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2820829G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9372C>T	8.37:g.2820829G>A						CSMD1_ENST00000400186.3_Silent_p.C2947C|CSMD1_ENST00000542608.1_Silent_p.C2946C|CSMD1_ENST00000537824.1_Silent_p.C3123C|CSMD1_ENST00000602723.1_Silent_p.C2947C|CSMD1_ENST00000520002.1_Silent_p.C3124C	p.C3124C			Q96PZ7	CSMD1_HUMAN		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)	61	9927	-		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)	3124			Sushi 25.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.9372C>T		.	.	.	.	.	.	.	.	.	.	G	1.899	-0.453549	0.04540	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.69	-3.17	0.05202	.	.	.	.	.	T	0.64800	0.2631	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62751	-0.6788	4	.	.	.	.	14.3369	0.66598	0.7162:0.0:0.2838:0.0	.	.	.	.	Y	2541	.	.	H	-	1	0	CSMD1	2808236	0.004000	0.15560	0.020000	0.16555	0.280000	0.26924	0.221000	0.17680	-0.828000	0.04273	-0.140000	0.14226	CAT		0.572	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		9	66	0	0	0	1	0	9	66					A	2820829	G	A	2820829	2	1	437	1	0	0	0	0	0	0	0	1	3944	1311	46	3		3	CSMD1	8	2820829	Silent	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08		2820829	143543193	25	30218											
PXDNL	137902	broad.mit.edu	37	chr8	52336238	52336238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgtcgtagatagtcagCgtgccttcatcatccacatg	8	11	9	13	3	3	1	3	0	0	1	5	1	4	1	3	0	3	1	3	0	2	3	rs370914039		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr8:52336238C>T	ENST00000356297.4	-	14	1792	c.1692G>A	c.(1690-1692)acG>acA	p.T564T	PXDNL_ENST00000543296.1_Silent_p.T564T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	564	Ig-like C2-type 4.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGATAGTCAGCGTGCCTTCAT	0.463													C|||	1	0.000199681	8e-04	0	5008	,	,		15550	0		0	False		,,,				2504	0					ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(1690-1692)acG>acA		peroxidasin homolog (Drosophila)-like							120	129	126					8																	52336238		2167	4277	6444	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52336238C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1692G>A	8.37:g.52336238C>T						PXDNL_ENST00000543296.1_Silent_p.T564T	p.T564T	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			14	1792	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	564			Ig-like C2-type 4.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.1692G>A	CCDS47855.1																																																																																				0.463	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		12	25	0	0	0	1	0	12	25					T	52336238	C	T	52336238	2	4	437	1	0	0	0	0	0	0	0	1	12848	755	27	1		1	PXDNL	8	52336238	Silent	SNP	C	TCGA-XK-AAJA-01A-11D-A41K-08	49515409	52336238	94027784	26	30219											
SGK3	23678	broad.mit.edu	37	chr8	67755708	67755708	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcttgcacctgaagtaattAgaaaacagccctatgacaat	16	10	6	9	0	1	3	0	2	1	1	1	3	1	3	2	0	3	2	2	0	7	4			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr8:67755708A>G	ENST00000396596.1	+	14	1214	c.1000A>G	c.(1000-1002)Aga>Gga	p.R334G	SGK3_ENST00000521435.1_3'UTR|SGK3_ENST00000521198.2_Missense_Mutation_p.R334G|SGK3_ENST00000522398.1_Missense_Mutation_p.R334G|SGK3_ENST00000520976.1_Intron|SGK3_ENST00000345714.4_Missense_Mutation_p.R334G|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.R334G	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	334	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			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)			TGAAGTAATTAGAAAACAGCC	0.313																																						ENST00000396596.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(1000-1002)Aga>Gga		serum/glucocorticoid regulated kinase family, member 3							141	136	138					8																	67755708		2203	4300	6503	SO:0001583	missense	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67755708A>G		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"serum/glucocorticoid regulated kinase-like"	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.1000A>G	8.37:g.67755708A>G	ENSP00000379842:p.Arg334Gly					SGK3_ENST00000345714.4_Missense_Mutation_p.R334G|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.R334G|SGK3_ENST00000520976.1_Intron|SGK3_ENST00000522398.1_Missense_Mutation_p.R334G|SGK3_ENST00000521198.2_Missense_Mutation_p.R334G|SGK3_ENST00000521435.1_3'UTR	p.R334G	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		14	1214	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	334			Protein kinase.		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	c.1000A>G	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.825954	0.50739	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000396596;ENST00000345714	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.11	3.87	0.44632	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.251367	0.45606	D	0.000351	T	0.59004	0.2162	N	0.25031	0.7	0.41070	D	0.985449	B	0.29936	0.262	P	0.45119	0.47	T	0.66917	-0.5802	9	0.45353	T	0.12	.	6.6086	0.22739	0.7651:0.1563:0.0787:0.0	.	334	Q96BR1	SGK3_HUMAN	G	334	ENSP00000429022:R334G;ENSP00000430463:R334G;ENSP00000430256:R334G;ENSP00000379842:R334G;ENSP00000331816:R334G	ENSP00000262211:R334G	R	+	1	2	SGK3	67918262	0.987000	0.35691	1.000000	0.80357	0.991000	0.79684	1.856000	0.39389	2.039000	0.60335	0.454000	0.30748	AGA		0.313	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			6	70	0	0	0	1	0	6	70					G	67755708	A	G	67755708	3	3	437	1	0	0	0	0	1	0	0	0	14212	412	15	4	1050	4	SGK3	8	67755708	Missense_Mutation	SNP	A	TCGA-XK-AAJA-01A-11D-A41K-08	15419470	67755708	78608314	27	30220											
COL14A1	7373	broad.mit.edu	37	chr8	121293158	121293158	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctactttttttttttttttAggatttaagatgatggaaat	10	23	6	2	0	1	2	0	1	1	1	1	4	1	4	0	2	1	0	0	2	4	11			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr8:121293158A>T	ENST00000297848.3	+	31	3955		c.e31-1		COL14A1_ENST00000247781.3_Splice_Site|COL14A1_ENST00000309791.4_Splice_Site	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 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)			TTTTTTTTTTAGGATTTAAGA	0.269																																						ENST00000297848.3																			0				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						c.e31-1		collagen, type XIV, alpha 1							31	32	31					8																	121293158		2203	4300	6503	SO:0001630	splice_region_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121293158A>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3686-1A>T	8.37:g.121293158A>T						COL14A1_ENST00000247781.3_Splice_Site|COL14A1_ENST00000309791.4_Splice_Site		NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		31	3955	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)								Splice_Site	SNP	ENST00000297848.3	37		CCDS34938.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959858	0.74016	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3317	0.83023	1.0:0.0:0.0:0.0	rs57400853	.	.	.	.	-1	.	.	.	+	.	.	COL14A1	121362339	1.000000	0.71417	0.932000	0.37286	0.726000	0.41606	9.309000	0.96252	2.264000	0.75181	0.533000	0.62120	.		0.269	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	Intron	4	27	0	0	0	1	0	4	27					T	121293158	A	T	121293158	5	4	437	1	0	0	0	0	0	0	1	0	3671	434	15	5	3802	5	COL14A1	8	121293158	Splice_Site	SNP	A	TCGA-XK-AAJA-01A-11D-A41K-08	53537450	121293158	25070864	28	30221											
COL22A1	169044	broad.mit.edu	37	chr8	139661957	139661957	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttcctgggacacctttgTcccctttaaaacctggtaga	8	13	8	12	0	0	1	0	0	0	1	2	2	2	2	5	2	1	2	5	2	3	5			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr8:139661957T>C	ENST00000303045.6	-	46	3844	c.3398A>G	c.(3397-3399)gAc>gGc	p.D1133G	COL22A1_ENST00000435777.1_Missense_Mutation_p.D1113G|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1133	Collagen-like 10.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				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)			GACACCTTTGTCCCCTTTAAA	0.498										HNSCC(7;0.00092)																												ENST00000303045.6																			0				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						c.(3397-3399)gAc>gGc		collagen, type XXII, alpha 1							87	73	77					8																	139661957		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139661957T>C	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3398A>G	8.37:g.139661957T>C	ENSP00000303153:p.Asp1133Gly	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.D1113G|COL22A1_ENST00000341807.4_5'UTR	p.D1133G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		46	3844	-	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)		1133			Collagen-like 10.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3398A>G	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.955645	0.34471	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94138	-3.36;-3.18	5.12	5.12	0.69794	.	0.000000	0.47455	U	0.000225	D	0.95316	0.8480	M	0.64997	1.995	0.50467	D	0.999872	D;D	0.69078	0.996;0.997	D;D	0.83275	0.993;0.996	D	0.93916	0.7201	10	0.26408	T	0.33	.	12.8597	0.57906	0.0:0.0:0.0:1.0	.	1113;1133	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	G	1133;1113;826	ENSP00000303153:D1133G;ENSP00000387655:D1113G	ENSP00000303153:D1133G	D	-	2	0	COL22A1	139731139	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	5.438000	0.66550	1.921000	0.55644	0.379000	0.24179	GAC		0.498	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		26	52	0	0	0	1	0	26	52					C	139661957	T	C	139661957	3	2	437	1	0	0	0	0	1	0	0	0	3681	1667	58	4	1562	4	COL22A1	8	139661957	Missense_Mutation	SNP	T	TCGA-XK-AAJA-01A-11D-A41K-08	18368799	139661957	6702065	29	30222											
CUBN	8029	broad.mit.edu	37	chr10	17089577	17089577	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagaagtgaatgtccccaaAtcatctgtgtagtcttgcaa	12	11	10	8	0	3	2	1	1	2	1	4	3	4	2	2	1	1	2	2	1	5	2			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:17089577A>G	ENST00000377833.4	-	23	3230	c.3165T>C	c.(3163-3165)gaT>gaC	p.D1055D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1055	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			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)	ATGTCCCCAAATCATCTGTGT	0.373																																						ENST00000377833.4																			0				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						c.(3163-3165)gaT>gaC		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						86	79	81					10																	17089577		2203	4300	6503	SO:0001819	synonymous_variant	8029				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	g.chr10:17089577A>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3165T>C	10.37:g.17089577A>G							p.D1055D	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			23	3230	-			1055			CUB 6.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.3165T>C	CCDS7113.1																																																																																				0.373	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		11	55	0	0	0	1	0	11	55					G	17089577	A	G	17089577	2	3	437	1	0	0	0	0	0	0	0	1	4051	98	4	4		4	CUBN	10	17089577	Silent	SNP	A	TCGA-XK-AAJA-01A-11D-A41K-08		17089577	118445170	30	30223											
ANKRD30A	91074	broad.mit.edu	37	chr10	37421250	37421250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgataaaaaatgcaaatgCgaatgcagttaataagtata	19	10	8	4	1	0	1	0	1	0	0	0	2	0	1	0	0	3	5	0	0	9	5	rs61737413		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:37421250C>T	ENST00000602533.1	+	4	524	c.425C>T	c.(424-426)gCg>gTg	p.A142V	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A142V|RNU6-811P_ENST00000384069.1_RNA|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A142V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	198					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						AATGCAAATGCGAATGCAGTT	0.299																																						ENST00000374660.1																			0				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						c.(424-426)gCg>gTg		ankyrin repeat domain 30A		C	VAL/ALA	0,3584		0,0,1792	57	54	55		425	-0.1	0	10	dbSNP_129	55	3,8107		0,3,4052	no	missense	ANKRD30A	NM_052997.2	64	0,3,5844	TT,TC,CC		0.037,0.0,0.0257	probably-damaging	142/1342	37421250	3,11691	1792	4055	5847	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37421250C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.425C>T	10.37:g.37421250C>T	ENSP00000473551:p.Ala142Val					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A142V|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A142V	p.A142V			Q9BXX3	AN30A_HUMAN			4	524	+			198					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.425C>T		.	.	.	.	.	.	.	.	.	.	.	0.634	-0.816087	0.02776	0.0	3.7E-4	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.67171	-0.25;0.22	2.37	-0.141	0.13452	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.40145	0.1105	N	0.00395	-1.55	0.09310	N	1	D	0.76494	0.999	D	0.74674	0.984	T	0.44742	-0.9308	9	0.05351	T	0.99	.	4.4189	0.11470	0.0:0.3455:0.0:0.6545	rs61737413	198	Q9BXX3	AN30A_HUMAN	V	142	ENSP00000354432:A142V;ENSP00000363792:A142V	ENSP00000354432:A142V	A	+	2	0	ANKRD30A	37461256	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.084000	0.14891	-0.273000	0.09246	0.289000	0.19496	GCG		0.299	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		22	76	0	0	0	1	0	22	76					T	37421250	C	T	37421250	3	4	437	1	0	0	0	0	1	0	0	0	658	768	27	1	439	1	ANKRD30A	10	37421250	Missense_Mutation	SNP	C	TCGA-XK-AAJA-01A-11D-A41K-08	20331673	37421250	98113497	31	30224											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43678810	43678810	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggttcctggtcttttccaCctctggcatgaaaagcgctg	6	12	10	13	2	2	1	0	1	2	0	4	1	4	1	4	3	1	3	4	3	2	3			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:43678810C>G	ENST00000374466.3	+	8	1784	c.1449C>G	c.(1447-1449)caC>caG	p.H483Q		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	483					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTCTTTTCCACCTCTGGCATG	0.507																																						ENST00000374466.3																			0				endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1447-1449)caC>caG		chondroitin sulfate N-acetylgalactosaminyltransferase 2							144	141	142					10																	43678810		2203	4300	6503	SO:0001583	missense	55454				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	g.chr10:43678810C>G	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1449C>G	10.37:g.43678810C>G	ENSP00000363590:p.His483Gln						p.H483Q	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN			8	1784	+			483					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.1449C>G	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594366	0.86953	.	.	ENSG00000169826	ENST00000374466	T	0.52057	0.68	5.87	5.87	0.94306	.	0.083470	0.85682	D	0.000000	T	0.72236	0.3435	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73294	-0.4028	10	0.41790	T	0.15	-17.6384	13.7487	0.62894	0.0:0.9299:0.0:0.0701	.	483	Q8N6G5	CGAT2_HUMAN	Q	483	ENSP00000363590:H483Q	ENSP00000363590:H483Q	H	+	3	2	CSGALNACT2	42998816	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.924000	0.48876	2.941000	0.99782	0.655000	0.94253	CAC		0.507	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		4	123	0	0	0	1	0	4	123					G	43678810	C	G	43678810	3	3	437	1	0	0	0	0	1	0	0	0	3939	506	18	5	1475	5	CSGALNACT2	10	43678810	Missense_Mutation	SNP	C	TCGA-XK-AAJA-01A-11D-A41K-08	6257560	43678810	91855937	32	30225											
C10orf72	196740	broad.mit.edu	37	chr10	50315736	50315736	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacgtaatgcccttgatcGgagggctgcagtgtcaagac	10	8	13	10	2	1	3	1	1	0	2	2	4	1	4	1	2	2	3	1	2	2	2	rs143117054	byFrequency	TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:50315736G>A	ENST00000332853.4	-	2	383	c.360C>T	c.(358-360)tcC>tcT	p.S120S	VSTM4_ENST00000298454.3_Silent_p.S120S	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	120	Ig-like.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GCCCTTGATCGGAGGGCTGCA	0.617													G|||	3	0.000599042	0.0023	0	5008	,	,		17993	0		0	False		,,,				2504	0					ENST00000332853.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.(358-360)tcC>tcT		V-set and transmembrane domain containing 4		G	,	5,4401	9.9+/-24.2	0,5,2198	104	101	102		360,360	-11.9	0	10	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VSTM4	NM_001031746.3,NM_144984.2	,	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	,	120/321,120/192	50315736	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	196740					integral to membrane|plasma membrane		g.chr10:50315736G>A	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"Immunoglobulin superfamily / V-set domain containing"	26470	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 72"	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.360C>T	10.37:g.50315736G>A						VSTM4_ENST00000298454.3_Silent_p.S120S	p.S120S	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN			2	383	-			120			Ig-like.		B4DNI6|Q96MX7	Silent	SNP	ENST00000332853.4	37	c.360C>T	CCDS31198.1																																																																																				0.617	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		4	76	0	0	0	1	0	4	76					A	50315736	G	A	50315736	2	1	437	1	0	0	0	0	0	0	0	1	1615	1103	39	2		2	C10orf72	10	50315736	Silent	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08	6636926	50315736	85219011	33	30226											
TYSND1	219743	broad.mit.edu	37	chr10	71906164	71906164	+	Frame_Shift_Del	DEL	C	C	-																															ccgcggtcaggacttcgctgCcagctcgcaggaaggggacg																										TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:71906164delC	ENST00000287078.6	-	1	178	c.179delG	c.(178-180)ggcfs	p.G60fs	TYSND1_ENST00000335494.5_Frame_Shift_Del_p.G60fs|TYSND1_ENST00000494143.1_5'Flank	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	60					protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						GACTTCGCTGCCAGCTCGCAG	0.721																																						ENST00000287078.6																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						c.(178-180)gcfs		trypsin domain containing 1							8	10	9					10																	71906164		1984	3845	5829	SO:0001589	frameshift_variant	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71906164delC	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.179delG	10.37:g.71906164delC	ENSP00000287078:p.Gly60fs					TYSND1_ENST00000335494.5_Frame_Shift_Del_p.G60fs	p.G60fs	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN			1	178	-			60					Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Frame_Shift_Del	DEL	ENST00000287078.6	37	c.179delG	CCDS31213.1																																																																																				0.721	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		2	4						2	4	---	---	---	---	-	71906164	C	-	71906164	7	5	437	1	0	1	0	1	0	0	0	0	16814	739	26	0	1537	0	TYSND1	10	71906164	Frame_Shift_Del	DEL	C	TCGA-XK-AAJA-01A-11D-A41K-08	21590428	71906164	63628583	34	30227											
PLCE1	51196	broad.mit.edu	37	chr10	96022289	96022289	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggatttggggttgttcAttaagagtaaacagcagcta	11	13	11	6	1	2	1	1	0	1	1	3	2	2	2	0	3	3	5	0	3	4	6			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:96022289A>T	ENST00000371380.3	+	13	4088	c.3853A>T	c.(3853-3855)Att>Ttt	p.I1285F	PLCE1_ENST00000371375.1_Missense_Mutation_p.I977F|PLCE1_ENST00000260766.3_Missense_Mutation_p.I1285F|PLCE1_ENST00000371385.3_Missense_Mutation_p.I977F			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1285					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GGGGTTGTTCATTAAGAGTAA	0.438																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(3853-3855)Att>Ttt		phospholipase C, epsilon 1							233	214	220					10																	96022289		1937	4147	6084	SO:0001583	missense	51196				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	g.chr10:96022289A>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3853A>T	10.37:g.96022289A>T	ENSP00000360431:p.Ile1285Phe					PLCE1_ENST00000371375.1_Missense_Mutation_p.I977F|PLCE1_ENST00000371385.3_Missense_Mutation_p.I977F|PLCE1_ENST00000371380.2_Missense_Mutation_p.I1285F	p.I1285F	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			14	4487	+		Colorectal(252;0.0458)	1285					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.3853A>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.927333	0.73327	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.26660	1.72;1.72;1.75;1.75	5.76	5.76	0.90799	.	0.060658	0.64402	D	0.000005	T	0.34861	0.0912	L	0.44542	1.39	0.53688	D	0.999972	P;P;B	0.51240	0.905;0.943;0.429	P;P;B	0.51229	0.462;0.663;0.112	T	0.04991	-1.0913	10	0.59425	D	0.04	.	16.0676	0.80897	1.0:0.0:0.0:0.0	.	1269;977;1285	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	F	1285;1285;977;977	ENSP00000260766:I1285F;ENSP00000360431:I1285F;ENSP00000360438:I977F;ENSP00000360426:I977F	ENSP00000260766:I1285F	I	+	1	0	PLCE1	96012279	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.880000	0.92407	2.201000	0.70794	0.533000	0.62120	ATT		0.438	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		7	137	0	0	0	1	0	7	137					T	96022289	A	T	96022289	3	4	437	1	0	0	0	0	1	0	0	0	12034	217	8	5	4189	5	PLCE1	10	96022289	Missense_Mutation	SNP	A	TCGA-XK-AAJA-01A-11D-A41K-08	24116125	96022289	39512458	35	30228											
USP47	55031	broad.mit.edu	37	chr11	11963959	11963959	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttatggaaactcctggatcgGcatgcaaatacaatcagatt	14	11	8	8	1	1	1	1	0	0	1	3	3	2	3	1	3	3	2	1	3	5	3			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr11:11963959G>A	ENST00000399455.2	+	21	2571	c.2451G>A	c.(2449-2451)cgG>cgA	p.R817R	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Silent_p.R729R|USP47_ENST00000527733.1_Silent_p.R797R	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	817					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TCCTGGATCGGCATGCAAATA	0.413																																						ENST00000339865.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2185-2187)cgG>cgA		ubiquitin specific peptidase 47							122	112	115					11																	11963959		1847	4084	5931	SO:0001819	synonymous_variant	55031				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	g.chr11:11963959G>A	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2451G>A	11.37:g.11963959G>A						USP47_ENST00000399455.2_Silent_p.R817R|USP47_ENST00000527733.1_Silent_p.R797R|USP47_ENST00000539466.1_5'UTR	p.R729R	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	19	2950	+			817					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Silent	SNP	ENST00000399455.2	37	c.2187G>A																																																																																					0.413	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		4	143	0	0	0	1	0	4	143					A	11963959	G	A	11963959	2	1	437	1	0	0	0	0	0	0	0	1	17075	1190	42	3		3	USP47	11	11963959	Silent	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08		11963959	123042557	36	30229											
ANO5	203859	broad.mit.edu	37	chr11	22249075	22249075	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcagacatcggcaggaGctcttcctcatcgaagatca	11	9	9	12	2	4	2	3	0	1	2	7	4	5	3	1	2	2	3	1	2	1	2			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr11:22249075G>A	ENST00000324559.8	+	7	908	c.591G>A	c.(589-591)gaG>gaA	p.E197E		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	197					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			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						ATCGGCAGGAGCTCTTCCTCA	0.453																																						ENST00000324559.8																			0				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						c.(589-591)gaG>gaA		anoctamin 5							106	104	105					11																	22249075		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22249075G>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.591G>A	11.37:g.22249075G>A							p.E197E	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			7	908	+			197						Silent	SNP	ENST00000324559.8	37	c.591G>A	CCDS31444.1																																																																																				0.453	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		28	52	0	0	0	1	0	28	52					A	22249075	G	A	22249075	2	1	437	1	0	0	0	0	0	0	0	1	700	962	34	3		3	ANO5	11	22249075	Silent	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08	10285116	22249075	112757441	37	30230											
OR9G4	283189	broad.mit.edu	37	chr11	56511168	56511168	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaacactccaaatagaatCggctgccactgggaatctgc	14	7	9	11	1	1	2	0	0	1	2	3	3	2	3	2	2	3	1	2	2	5	1			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr11:56511168C>T	ENST00000302957.3	-	1	119	c.120G>A	c.(118-120)ccG>ccA	p.P40P		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAAATAGAATCGGCTGCCACT	0.443																																						ENST00000302957.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(118-120)ccG>ccA		olfactory receptor, family 9, subfamily G, member 4							74	69	71					11																	56511168		2201	4296	6497	SO:0001819	synonymous_variant	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56511168C>T	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"GPCR / Class A : Olfactory receptors"	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.120G>A	11.37:g.56511168C>T							p.P40P	NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN			1	119	-			40					Q6IF62|Q96RA9	Silent	SNP	ENST00000302957.3	37	c.120G>A	CCDS31537.1																																																																																				0.443	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		6	66	0	0	0	1	0	6	66					T	56511168	C	T	56511168	2	4	437	1	0	0	0	0	0	0	0	1	11251	871	31	2		2	OR9G4	11	56511168	Silent	SNP	C	TCGA-XK-AAJA-01A-11D-A41K-08	34262093	56511168	78495348	38	30231											
RNF214	257160	broad.mit.edu	37	chr11	117152850	117152850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccccacggtccacacatgCcccctgccgcctccatccca	6	5	6	24	2	0	0	0	0	0	0	3	0	3	0	9	1	2	0	9	1	0	0			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr11:117152850C>T	ENST00000531452.1	+	11	1622	c.1576C>T	c.(1576-1578)Ccc>Tcc	p.P526S	RNF214_ENST00000530849.1_Missense_Mutation_p.P371S|RNF214_ENST00000300650.4_Missense_Mutation_p.P526S|RNF214_ENST00000524917.1_Intron|RNF214_ENST00000531287.1_Missense_Mutation_p.P371S	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	526	Pro-rich.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TCCACACATGCCCCCTGCCGC	0.627																																						ENST00000530849.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1111-1113)Ccc>Tcc		ring finger protein 214							94	102	99					11																	117152850		1918	4109	6027	SO:0001583	missense	257160						zinc ion binding	g.chr11:117152850C>T	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"RING-type (C3HC4) zinc fingers"	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1576C>T	11.37:g.117152850C>T	ENSP00000431643:p.Pro526Ser					RNF214_ENST00000524917.1_Intron|RNF214_ENST00000531452.1_Missense_Mutation_p.P526S|RNF214_ENST00000300650.4_Missense_Mutation_p.P526S|RNF214_ENST00000531287.1_Missense_Mutation_p.P371S	p.P371S			Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	10	1121	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	526					B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	c.1111C>T	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	C	8.690	0.907301	0.17833	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650;ENST00000534709	T;T;T;T	0.57752	2.35;0.38;0.38;0.38	5.39	0.788	0.18601	.	0.335208	0.31358	N	0.007786	T	0.24812	0.0602	N	0.17082	0.46	0.26975	N	0.965486	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.03503	-1.1030	10	0.16420	T	0.52	-1.2966	0.681	0.00875	0.2865:0.2777:0.2509:0.1848	.	371;526	B4DTD1;Q8ND24	.;RN214_HUMAN	S	371;526;371;526;78	ENSP00000435361:P371S;ENSP00000431643:P526S;ENSP00000432903:P371S;ENSP00000300650:P526S	ENSP00000300650:P526S	P	+	1	0	RNF214	116658060	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.308000	0.19314	0.615000	0.30124	0.561000	0.74099	CCC		0.627	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		4	130	0	0	0	1	0	4	130					T	117152850	C	T	117152850	3	4	437	1	0	0	0	0	1	0	0	0	13478	739	26	3	1614	3	RNF214	11	117152850	Missense_Mutation	SNP	C	TCGA-XK-AAJA-01A-11D-A41K-08	60641682	117152850	17853666	39	30232											
ARCN1	372	broad.mit.edu	37	chr11	118464315	118464315	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctcctcagttaattgctgGccctcggagagtggaaatgg	8	12	12	9	1	2	1	1	0	1	1	4	3	2	2	2	4	1	2	2	4	2	3			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr11:118464315G>C	ENST00000264028.4	+	8	1238	c.1143G>C	c.(1141-1143)tgG>tgC	p.W381C	ARCN1_ENST00000359415.4_Missense_Mutation_p.W422C|ARCN1_ENST00000534182.2_Intron|RNU6-1157P_ENST00000384456.1_RNA|ARCN1_ENST00000392859.3_Missense_Mutation_p.W293C	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	381	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTAATTGCTGGCCCTCGGAGA	0.448																																						ENST00000359415.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(1264-1266)tgG>tgC		archain 1							95	85	88					11																	118464315		2200	4295	6495	SO:0001583	missense	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118464315G>C	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"coatomer protein complex, subunit delta"	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.1143G>C	11.37:g.118464315G>C	ENSP00000264028:p.Trp381Cys					ARCN1_ENST00000392859.3_Missense_Mutation_p.W293C|ARCN1_ENST00000264028.4_Missense_Mutation_p.W381C|ARCN1_ENST00000534182.2_Intron	p.W422C			P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	9	1431	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	381			MHD.		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	c.1266G>C	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470290	0.84533	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.19669	2.13;2.13;2.13	5.95	5.95	0.96441	Clathrin adaptor, mu subunit, C-terminal (3);	0.104008	0.64402	D	0.000001	T	0.59985	0.2234	M	0.93062	3.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.981;0.999;0.997	T	0.68066	-0.5507	10	0.87932	D	0	-0.0143	20.3789	0.98926	0.0:0.0:1.0:0.0	.	293;422;381	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	C	293;422;381	ENSP00000376599:W293C;ENSP00000352385:W422C;ENSP00000264028:W381C	ENSP00000264028:W381C	W	+	3	0	ARCN1	117969525	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.417000	0.97391	2.826000	0.97356	0.563000	0.77884	TGG		0.448	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			8	43	0	0	0	1	0	8	43					C	118464315	G	C	118464315	3	2	437	1	0	0	0	0	1	0	0	0	842	1212	42	5	1173	5	ARCN1	11	118464315	Missense_Mutation	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08	1311465	118464315	16542201	40	30233											
GUCY2C	2984	broad.mit.edu	37	chr12	14772196	14772196	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgaccgtatctccaaataGacaataacgaggcatcttga	14	10	8	9	2	2	3	0	2	2	1	3	4	2	3	2	1	1	3	2	1	5	5			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr12:14772196G>C	ENST00000261170.3	-	24	2960	c.2824C>G	c.(2824-2826)Cta>Gta	p.L942V	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	942	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TCTCCAAATAGACAATAACGA	0.473																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(2824-2826)Cta>Gta		guanylate cyclase 2C (heat stable enterotoxin receptor)							133	124	127					12																	14772196		2203	4300	6503	SO:0001583	missense	2984				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	g.chr12:14772196G>C		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2824C>G	12.37:g.14772196G>C	ENSP00000261170:p.Leu942Val					RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	p.L942V	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			24	2960	-			942			Guanylate cyclase.		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.2824C>G	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245494	0.80024	.	.	ENSG00000070019	ENST00000261170	T	0.79845	-1.31	5.29	5.29	0.74685	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.86772	0.6013	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87407	0.2373	10	0.87932	D	0	.	10.1593	0.42842	0.1228:0.0:0.8772:0.0	.	942	P25092	GUC2C_HUMAN	V	942	ENSP00000261170:L942V	ENSP00000261170:L942V	L	-	1	2	GUCY2C	14663463	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.630000	0.61297	2.466000	0.83321	0.655000	0.94253	CTA		0.473	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			5	109	0	0	0	1	0	5	109					C	14772196	G	C	14772196	3	2	437	1	0	0	0	0	1	0	0	0	6896	933	33	5	413	5	GUCY2C	12	14772196	Missense_Mutation	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08		14772196	119079699	41	30234											
ABCC9	10060	broad.mit.edu	37	chr12	21971146	21971146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaagacccactaatggatgCtatagatgcagtgaggacaa	15	7	11	8	1	0	3	0	1	0	2	0	6	0	5	1	2	2	2	1	2	5	3			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr12:21971146C>T	ENST00000261201.4	-	30	3708	c.3709G>A	c.(3709-3711)Gca>Aca	p.A1237T	ABCC9_ENST00000261200.4_Missense_Mutation_p.A1237T|ABCC9_ENST00000345162.2_Missense_Mutation_p.A1201T	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1237	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			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)|Glyburide(DB01016)	CTAATGGATGCTATAGATGCA	0.388																																						ENST00000261200.4																			0				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						c.(3709-3711)Gca>Aca		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						167	161	163					12																	21971146		2203	4300	6503	SO:0001583	missense	10060				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	g.chr12:21971146C>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3709G>A	12.37:g.21971146C>T	ENSP00000261201:p.Ala1237Thr					ABCC9_ENST00000345162.2_Missense_Mutation_p.A1201T|ABCC9_ENST00000261201.4_Missense_Mutation_p.A1237T	p.A1237T	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			30	3708	-			1237			ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3709G>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	1.143	-0.649049	0.03506	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	5.02	5.02	0.67125	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.173757	0.50627	D	0.000114	T	0.79293	0.4421	L	0.28556	0.865	0.37735	D	0.925427	B;B	0.06786	0.001;0.001	B;B	0.15052	0.012;0.005	T	0.71481	-0.4580	10	0.12766	T	0.61	-14.9481	7.4612	0.27296	0.1683:0.742:0.0:0.0897	.	1237;1237	O60706;O60706-2	ABCC9_HUMAN;.	T	1237;864;1237;1201	ENSP00000261200:A1237T;ENSP00000440521:A864T;ENSP00000261201:A1237T;ENSP00000261202:A1201T	ENSP00000261200:A1237T	A	-	1	0	ABCC9	21862413	0.988000	0.35896	0.999000	0.59377	0.545000	0.35147	1.895000	0.39778	2.615000	0.88500	0.585000	0.79938	GCA		0.388	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		19	64	0	0	0	1	0	19	64					T	21971146	C	T	21971146	3	4	437	1	0	0	0	0	1	0	0	0	59	797	28	3	1118	3	ABCC9	12	21971146	Missense_Mutation	SNP	C	TCGA-XK-AAJA-01A-11D-A41K-08	7198950	21971146	111880749	42	30235											
ADAMTS20	80070	broad.mit.edu	37	chr12	43819450	43819450	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccattgggaaattgacatAttacaagtcttgattttatt	12	16	8	5	0	1	2	0	2	1	0	1	3	1	3	1	2	1	0	1	2	5	8			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr12:43819450A>T	ENST00000389420.3	-	28	4150	c.4151T>A	c.(4150-4152)aTa>aAa	p.I1384K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.I1384K|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.I502K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1384	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AAATTGACATATTACAAGTCT	0.348																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4150-4152)aTa>aAa		ADAM metallopeptidase with thrombospondin type 1 motif, 20							152	131	138					12																	43819450		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43819450A>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4151T>A	12.37:g.43819450A>T	ENSP00000374071:p.Ile1384Lys					ADAMTS20_ENST00000395541.2_Missense_Mutation_p.I502K|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.I1384K	p.I1384K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	28	4150	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1384			TSP type-1 10.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4151T>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	A	14.32	2.499495	0.44455	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	4.71	3.56	0.40772	.	0.107309	0.39146	N	0.001453	T	0.51143	0.1657	L	0.42581	1.335	0.58432	D	0.999997	B;P	0.50272	0.009;0.933	B;P	0.57776	0.016;0.827	T	0.38090	-0.9677	10	0.19147	T	0.46	.	10.9128	0.47118	0.9248:0.0:0.0752:0.0	.	1384;502	P59510;E9PBD5	ATS20_HUMAN;.	K	1384;514;502;1384;1384	ENSP00000374071:I1384K;ENSP00000447427:I514K;ENSP00000378911:I502K;ENSP00000448341:I1384K	ENSP00000374068:I1384K	I	-	2	0	ADAMTS20	42105717	0.993000	0.37304	0.993000	0.49108	0.808000	0.45660	3.905000	0.56333	0.897000	0.36392	-0.280000	0.10049	ATA		0.348	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		5	20	0	0	0	1	0	5	20					T	43819450	A	T	43819450	3	4	437	1	0	0	0	0	1	0	0	0	266	449	16	5	1628	5	ADAMTS20	12	43819450	Missense_Mutation	SNP	A	TCGA-XK-AAJA-01A-11D-A41K-08	21848304	43819450	90032445	43	30236											
SLC38A1	81539	broad.mit.edu	37	chr12	46598088	46598088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatcaggaaacttacctttGaattgaaggtaacatatttt	14	14	8	5	0	1	2	1	2	0	0	1	4	1	4	1	3	3	1	1	3	6	7			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr12:46598088G>A	ENST00000398637.5	-	11	1512	c.818C>T	c.(817-819)tCa>tTa	p.S273L	SLC38A1_ENST00000439706.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000552197.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000549049.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000546893.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	273					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			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)			ACTTACCTTTGAATTGAAGGT	0.333																																						ENST00000398637.5																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23						c.(817-819)tCa>tTa		solute carrier family 38, member 1							219	201	207					12																	46598088		1864	4099	5963	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46598088G>A	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.818C>T	12.37:g.46598088G>A	ENSP00000381634:p.Ser273Leu					SLC38A1_ENST00000552197.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000549049.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000546893.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000439706.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000549633.1_5'UTR	p.S273L	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		11	1512	-	Lung SC(27;0.137)|Renal(347;0.236)		273					Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.818C>T	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824926	0.50739	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02280	4.36;4.36;4.36;4.36;4.36	5.37	4.47	0.54385	.	0.245279	0.28958	N	0.013582	T	0.04363	0.0120	M	0.68317	2.08	0.50039	D	0.999842	B;B;B	0.25719	0.132;0.007;0.027	B;B;B	0.33196	0.159;0.01;0.017	T	0.22977	-1.0201	10	0.49607	T	0.09	-10.8642	9.3602	0.38190	0.0737:0.0:0.7855:0.1408	.	273;273;273	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	L	273	ENSP00000449607:S273L;ENSP00000398142:S273L;ENSP00000381634:S273L;ENSP00000447853:S273L;ENSP00000449756:S273L	ENSP00000381634:S273L	S	-	2	0	SLC38A1	44884355	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	3.903000	0.56318	2.527000	0.85204	0.467000	0.42956	TCA		0.333	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			48	102	0	0	0	1	0	48	102					A	46598088	G	A	46598088	3	1	437	1	0	0	0	0	1	0	0	0	14601	1294	45	3	673	3	SLC38A1	12	46598088	Missense_Mutation	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08	2778638	46598088	87253807	44	30237											
TXNRD1	7296	broad.mit.edu	37	chr12	104725345	104725345	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgttccaaccactgtatttActcctttggaatatggtgct	9	16	7	9	0	0	0	0	0	0	0	2	1	2	1	3	2	3	3	3	2	5	6			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr12:104725345A>C	ENST00000529546.1	+	11	1237	c.1012A>C	c.(1012-1014)Act>Cct	p.T338P	TXNRD1_ENST00000525566.1_Missense_Mutation_p.T526P|TXNRD1_ENST00000397736.2_Missense_Mutation_p.T420P|TXNRD1_ENST00000354940.6_Missense_Mutation_p.T376P|TXNRD1_ENST00000542918.1_Missense_Mutation_p.T426P|TXNRD1_ENST00000526390.1_Missense_Mutation_p.T420P|TXNRD1_ENST00000540716.1_Missense_Mutation_p.T338P|TXNRD1_ENST00000388854.3_Missense_Mutation_p.T428P|TXNRD1_ENST00000429002.2_Missense_Mutation_p.T526P|TXNRD1_ENST00000427956.1_Missense_Mutation_p.T491P|TXNRD1_ENST00000503506.2_Missense_Mutation_p.T376P|TXNRD1_ENST00000378070.4_Missense_Mutation_p.T475P|TXNRD1_ENST00000526691.1_Missense_Mutation_p.T428P|TXNRD1_ENST00000526950.1_Missense_Mutation_p.T445P|TXNRD1_ENST00000524698.1_Missense_Mutation_p.T376P			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	526					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	CACTGTATTTACTCCTTTGGA	0.348																																					Ovarian(139;555 1836 9186 9946 10884)	ENST00000526691.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.(1282-1284)Act>Cct		thioredoxin reductase 1							78	70	73					12																	104725345		1826	4087	5913	SO:0001583	missense	7296				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	g.chr12:104725345A>C		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.1012A>C	12.37:g.104725345A>C	ENSP00000434919:p.Thr338Pro					TXNRD1_ENST00000429002.2_Missense_Mutation_p.T526P|TXNRD1_ENST00000427956.1_Missense_Mutation_p.T491P|TXNRD1_ENST00000397736.2_Missense_Mutation_p.T420P|TXNRD1_ENST00000388854.3_Missense_Mutation_p.T428P|TXNRD1_ENST00000354940.6_Missense_Mutation_p.T376P|TXNRD1_ENST00000540716.1_Missense_Mutation_p.T338P|TXNRD1_ENST00000529546.1_Missense_Mutation_p.T338P|TXNRD1_ENST00000526950.1_Missense_Mutation_p.T445P|TXNRD1_ENST00000525566.1_Missense_Mutation_p.T526P|TXNRD1_ENST00000524698.1_Missense_Mutation_p.T376P|TXNRD1_ENST00000503506.2_Missense_Mutation_p.T376P|TXNRD1_ENST00000526390.1_Missense_Mutation_p.T420P|TXNRD1_ENST00000542918.1_Missense_Mutation_p.T426P|TXNRD1_ENST00000378070.4_Missense_Mutation_p.T475P	p.T428P	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN			12	1738	+			526					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	ENST00000529546.1	37	c.1282A>C	CCDS58274.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.741443	0.89573	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000397736;ENST00000427956;ENST00000526950	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47	5.67	5.67	0.87782	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.044816	0.85682	D	0.000000	D	0.98201	0.9405	H	0.96080	3.765	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999;1.0;0.999	D	0.99589	1.0975	10	0.87932	D	0	-24.9432	15.9649	0.79961	1.0:0.0:0.0:0.0	.	426;420;526;428;376;526;491	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	P	526;526;376;428;428;376;420;338;338;376;426;475;420;491;445	ENSP00000434516:T526P;ENSP00000412045:T526P;ENSP00000421934:T376P;ENSP00000435929:T428P;ENSP00000373506:T428P;ENSP00000347020:T376P;ENSP00000435123:T420P;ENSP00000434919:T338P;ENSP00000442709:T338P;ENSP00000433425:T376P;ENSP00000440978:T426P;ENSP00000367310:T475P;ENSP00000380844:T420P;ENSP00000393328:T491P;ENSP00000432812:T445P	ENSP00000347020:T376P	T	+	1	0	TXNRD1	103249475	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.023000	0.93683	2.175000	0.68902	0.529000	0.55759	ACT		0.348	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330		5	11	0	0	0	1	0	5	11					C	104725345	A	C	104725345	3	2	437	1	0	0	0	0	1	0	0	0	16804	391	14	5	1644	5	TXNRD1	12	104725345	Missense_Mutation	SNP	A	TCGA-XK-AAJA-01A-11D-A41K-08	58127257	104725345	29126550	45	30238											
MBIP	51562	broad.mit.edu	37	chr14	36781227	36781227	+	Frame_Shift_Del	DEL	T	T	-																															catcagttcttgcacaactaTtttctaaggagaatttagat																										TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr14:36781227delT	ENST00000416007.4	-	5	662	c.575delA	c.(574-576)aatfs	p.N192fs	MBIP_ENST00000603913.1_5'UTR|MBIP_ENST00000359527.7_Frame_Shift_Del_p.N192fs|MBIP_ENST00000318473.7_Frame_Shift_Del_p.N192fs	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	192	Interaction with MAP3K12.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	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)		TGCACAACTATTTTCTAAGGA	0.303																																						ENST00000416007.4																			0				breast(2)|large_intestine(1)|lung(5)	8						c.(574-576)atfs		MAP3K12 binding inhibitory protein 1							50	53	52					14																	36781227		2203	4300	6503	SO:0001589	frameshift_variant	51562				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	g.chr14:36781227delT	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.575delA	14.37:g.36781227delT	ENSP00000399718:p.Asn192fs					MBIP_ENST00000603913.1_5'UTR|MBIP_ENST00000318473.7_Frame_Shift_Del_p.N192fs|MBIP_ENST00000359527.7_Frame_Shift_Del_p.N192fs	p.N192fs	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	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)	5	662	-	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)		192			Interaction with MAP3K12.		Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Frame_Shift_Del	DEL	ENST00000416007.4	37	c.575delA	CCDS9658.1																																																																																				0.303	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		32	66						32	66	---	---	---	---	-	36781227	T	-	36781227	7	5	437	1	0	1	0	1	0	0	0	0	9349	1493	52	0	479	0	MBIP	14	36781227	Frame_Shift_Del	DEL	T	TCGA-XK-AAJA-01A-11D-A41K-08		36781227	70568313	46	30239											
FLRT2	23768	broad.mit.edu	37	chr14	86089446	86089446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaacacagcgtccagccatGagcagacgacgtcccacagc	12	3	10	16	3	0	2	0	1	0	1	2	3	2	2	3	0	5	2	3	0	1	0			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr14:86089446G>A	ENST00000330753.4	+	2	2355	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K	FLRT2_ENST00000554746.1_Missense_Mutation_p.E530K	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	530					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTCCAGCCATGAGCAGACGAC	0.577																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1588-1590)Gag>Aag		fibronectin leucine rich transmembrane protein 2							98	98	98					14																	86089446		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089446G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1588G>A	14.37:g.86089446G>A	ENSP00000332879:p.Glu530Lys					FLRT2_ENST00000554746.1_Missense_Mutation_p.E530K	p.E530K	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2355	+			530					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1588G>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900144	0.72754	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.58940	0.3;0.3	6.17	6.17	0.99709	.	0.048833	0.85682	D	0.000000	T	0.59059	0.2166	L	0.54323	1.7	0.80722	D	1	P	0.46987	0.888	B	0.41374	0.355	T	0.62282	-0.6887	10	0.62326	D	0.03	-23.0933	20.8794	0.99867	0.0:0.0:1.0:0.0	.	530	O43155	FLRT2_HUMAN	K	530;530;183	ENSP00000332879:E530K;ENSP00000451050:E530K	ENSP00000332879:E530K	E	+	1	0	FLRT2	85159199	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	9.867000	0.99620	2.941000	0.99782	0.655000	0.94253	GAG		0.577	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			4	105	0	0	0	1	0	4	105					A	86089446	G	A	86089446	3	1	437	1	0	0	0	0	1	0	0	0	5939	1291	45	3	1590	3	FLRT2	14	86089446	Missense_Mutation	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08	49308219	86089446	21260094	47	30240											
MARK3	4140	broad.mit.edu	37	chr14	103969417	103969417	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctgcgtccacggagatggGcacgcggagaacctcgtgca	8	7	14	12	5	1	2	0	0	1	2	3	4	2	2	2	3	3	2	2	3	1	1			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr14:103969417G>A	ENST00000429436.2	+	18	2625	c.2115G>A	c.(2113-2115)ggG>ggA	p.G705G	MARK3_ENST00000216288.7_Silent_p.G665G|MARK3_ENST00000440884.3_Silent_p.G611G|MARK3_ENST00000303622.9_Silent_p.G681G|MARK3_ENST00000335102.5_Silent_p.G728G|MARK3_ENST00000553942.1_Silent_p.G696G|MARK3_ENST00000416682.2_Silent_p.G704G	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	705	KA1. {ECO:0000255|PROSITE- ProRule:PRU00565}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			ACGGAGATGGGCACGCGGAGA	0.567																																						ENST00000429436.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(2113-2115)ggG>ggA		MAP/microtubule affinity-regulating kinase 3							64	66	65					14																	103969417		2049	4216	6265	SO:0001819	synonymous_variant	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103969417G>A	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.2115G>A	14.37:g.103969417G>A						MARK3_ENST00000553942.1_Silent_p.G696G|MARK3_ENST00000416682.2_Silent_p.G704G|MARK3_ENST00000440884.3_Silent_p.G611G|MARK3_ENST00000335102.5_Silent_p.G728G|MARK3_ENST00000303622.9_Silent_p.G681G|MARK3_ENST00000216288.7_Silent_p.G665G	p.G705G	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	Epithelial(46;0.241)		18	2625	+		Melanoma(154;0.155)	705			KA1.		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Silent	SNP	ENST00000429436.2	37	c.2115G>A	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	G	0.192	-1.052427	0.01981	.	.	ENSG00000075413	ENST00000554627	T	0.42513	0.97	6.06	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22382	-1.0218	6	.	.	.	.	8.3926	0.32537	0.0706:0.0:0.6624:0.267	.	.	.	.	D	457	ENSP00000450460:G457D	.	G	+	2	0	MARK3	103039170	1.000000	0.71417	0.955000	0.39395	0.027000	0.11550	0.692000	0.25482	2.882000	0.98803	0.655000	0.94253	GGC		0.567	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		19	40	0	0	0	1	0	19	40					A	103969417	G	A	103969417	2	1	437	1	0	0	0	0	0	0	0	1	9314	1190	42	3		3	MARK3	14	103969417	Silent	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08	17879971	103969417	3380123	48	30241											
SCAPER	49855	broad.mit.edu	37	chr15	76995224	76995224	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagaacactgcttctttctTtcataaggggtcagtttggg	9	14	11	7	0	4	1	2	0	2	1	4	2	4	1	0	3	2	2	0	3	2	5			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr15:76995224T>A	ENST00000563290.1	-	19	2462	c.2367A>T	c.(2365-2367)gaA>gaT	p.E789D	SCAPER_ENST00000538941.2_Missense_Mutation_p.E543D|SCAPER_ENST00000324767.7_Missense_Mutation_p.E789D			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	789						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GCTTCTTTCTTTCATAAGGGG	0.378																																						ENST00000538941.2																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						c.(1627-1629)gaA>gaT		S-phase cyclin A-associated protein in the ER							118	119	118					15																	76995224		1876	4100	5976	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76995224T>A	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2367A>T	15.37:g.76995224T>A	ENSP00000454973:p.Glu789Asp					SCAPER_ENST00000563290.1_Missense_Mutation_p.E789D|SCAPER_ENST00000324767.7_Missense_Mutation_p.E789D	p.E543D	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN			19	2568	-			788			Glu-rich.		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.1629A>T	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597785	0.66332	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.39592	1.07;1.07	5.8	-0.717	0.11208	.	0.045323	0.85682	N	0.000000	T	0.37461	0.1004	L	0.28115	0.83	0.40436	D	0.97999	B;P;P	0.48350	0.434;0.909;0.708	B;P;B	0.55508	0.351;0.777;0.304	T	0.10870	-1.0611	10	0.33940	T	0.23	.	8.6986	0.34312	0.0:0.4625:0.1163:0.4212	.	788;810;543	Q9BY12;Q9BY12-2;F5H7X8	SCAPE_HUMAN;.;.	D	789;543;811	ENSP00000326924:E789D;ENSP00000442190:E543D	ENSP00000303560:E811D	E	-	3	2	SCAPER	74782279	0.266000	0.24112	0.997000	0.53966	0.991000	0.79684	-0.355000	0.07671	-0.107000	0.12088	-0.323000	0.08544	GAA		0.378	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		30	65	0	0	0	1	0	30	65					A	76995224	T	A	76995224	3	1	437	1	0	0	0	0	1	0	0	0	13878	1838	64	5	1891	5	SCAPER	15	76995224	Missense_Mutation	SNP	T	TCGA-XK-AAJA-01A-11D-A41K-08		76995224	25536168	49	30242											
ACSM2B	348158	broad.mit.edu	37	chr16	20548593	20548593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agacgcctcactgcgcacggGcttttccggacatcttccac	7	9	9	16	4	2	1	1	0	1	1	4	2	4	2	3	2	1	2	3	2	0	3			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr16:20548593G>A	ENST00000329697.6	-	14	1889	c.1721C>T	c.(1720-1722)gCc>gTc	p.A574V	ACSM2B_ENST00000567001.1_Missense_Mutation_p.A574V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A574V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A495V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	574					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTGCGCACGGGCTTTTCCGGA	0.463																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1720-1722)gCc>gTc		acyl-CoA synthetase medium-chain family member 2B							256	234	241					16																	20548593		2202	4300	6502	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20548593G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1721C>T	16.37:g.20548593G>A	ENSP00000327453:p.Ala574Val					ACSM2B_ENST00000567001.1_Missense_Mutation_p.A574V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A574V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A495V	p.A574V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			14	1889	-			574					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1721C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	9.684	1.149966	0.21371	.	.	ENSG00000066813	ENST00000329697	T	0.47528	0.84	2.53	0.445	0.16597	.	1.337660	0.05756	U	0.604017	T	0.33411	0.0862	N	0.08118	0	0.09310	N	1	B	0.34181	0.44	B	0.43413	0.419	T	0.40515	-0.9559	10	0.62326	D	0.03	-1.4649	3.4189	0.07386	0.3829:0.2026:0.4145:0.0	.	574	Q68CK6	ACS2B_HUMAN	V	574	ENSP00000327453:A574V	ENSP00000327453:A574V	A	-	2	0	ACSM2B	20456094	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.093000	0.11111	0.135000	0.18707	0.609000	0.83330	GCC		0.463	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		5	252	0	0	0	1	0	5	252					A	20548593	G	A	20548593	3	1	437	1	0	0	0	0	1	0	0	0	184	1203	42	3	16	3	ACSM2B	16	20548593	Missense_Mutation	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08		20548593	69806160	50	30243											
SLFN5	162394	broad.mit.edu	37	chr17	33586319	33586319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaatgttctcgacagacGtgtcacactgtgttaaagac	11	13	9	8	2	2	2	1	0	1	2	3	3	2	2	0	0	0	3	0	0	3	4			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr17:33586319G>T	ENST00000299977.4	+	2	758	c.610G>T	c.(610-612)Gtg>Ttg	p.V204L	SLFN5_ENST00000592325.1_Missense_Mutation_p.V204L|SLFN5_ENST00000542451.1_Missense_Mutation_p.V204L	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	204					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			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)		CTCGACAGACGTGTCACACTG	0.408																																						ENST00000299977.4																			0				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						c.(610-612)Gtg>Ttg		schlafen family member 5							175	164	168					17																	33586319		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33586319G>T	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.610G>T	17.37:g.33586319G>T	ENSP00000299977:p.Val204Leu					SLFN5_ENST00000592325.1_Missense_Mutation_p.V204L|SLFN5_ENST00000542451.1_Missense_Mutation_p.V204L	p.V204L	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	2	758	+		Ovarian(249;0.17)	204					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.610G>T	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.309754	0.01342	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.28255	1.62;1.62	3.55	-2.34	0.06704	.	1.128570	0.07121	N	0.843837	T	0.11707	0.0285	N	0.04355	-0.22	0.09310	N	1	B;B;B	0.12013	0.005;0.002;0.001	B;B;B	0.13407	0.009;0.004;0.004	T	0.28618	-1.0038	10	0.20519	T	0.43	.	4.0803	0.09922	0.3436:0.2736:0.3828:0.0	.	204;204;204	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	L	204	ENSP00000299977:V204L;ENSP00000440537:V204L	ENSP00000299977:V204L	V	+	1	0	SLFN5	30610432	0.000000	0.05858	0.003000	0.11579	0.116000	0.19942	-0.646000	0.05403	-0.512000	0.06505	0.563000	0.77884	GTG		0.408	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		6	181	1	0	5.9392e-07	1	6.35745e-07	6	181					T	33586319	G	T	33586319	3	4	437	1	0	0	0	0	1	0	0	0	14737	1145	40	5	612	5	SLFN5	17	33586319	Missense_Mutation	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08		33586319	47608891	51	30244											
SAFB	6294	broad.mit.edu	37	chr19	5664408	5664408	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatttaaattgccttttcagGagagaaggttcaaggtcaat	13	13	10	5	0	3	1	3	0	0	1	3	4	3	2	1	3	1	1	1	3	5	6			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:5664408G>T	ENST00000292123.5	+	17	2399	c.2292G>T	c.(2290-2292)agG>agT	p.R764S	SAFB_ENST00000588852.1_Splice_Site_p.R764S|SAFB_ENST00000538656.1_Splice_Site_p.R606S|SAFB_ENST00000433404.1_Splice_Site_p.R594S|SAFB_ENST00000454510.1_Splice_Site_p.R695S|SAFB_ENST00000592224.1_Splice_Site_p.R763S	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	764	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			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)		GCCTTTTCAGGAGAGAAGGTT	0.448																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.e17-1		scaffold attachment factor B							88	86	87					19																	5664408		2203	4300	6503	SO:0001630	splice_region_variant	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5664408G>T	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"RNA binding motif (RRM) containing"	10520	protein-coding gene	gene with protein product	"Hsp27 ERE-TATA binding protein"	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2292-1G>T	19.37:g.5664408G>T						SAFB_ENST00000433404.1_Splice_Site_p.R594_splice|SAFB_ENST00000592224.1_Splice_Site_p.R763_splice|SAFB_ENST00000538656.1_Splice_Site_p.R606_splice|SAFB_ENST00000454510.1_Splice_Site_p.R695_splice|SAFB_ENST00000588852.1_Splice_Site_p.R764_splice	p.R764_splice	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	17	2399	+			764			Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Splice_Site	SNP	ENST00000292123.5	37	c.2291_splice	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909565	0.52439	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.12147	2.76;2.94;2.72;2.71	5.04	5.04	0.67666	.	0.000000	0.56097	D	0.000023	T	0.34424	0.0897	M	0.79123	2.44	0.80722	D	1	D;P;P;P;P;P;P	0.58268	0.982;0.948;0.939;0.9;0.9;0.9;0.9	P;P;P;P;P;P;P	0.58130	0.833;0.452;0.654;0.452;0.452;0.452;0.452	T	0.06516	-1.0822	9	.	.	.	.	16.5634	0.84572	0.0:0.0:1.0:0.0	.	563;606;695;763;764;764;763	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	S	695;659;594;764;606	ENSP00000415895:R695S;ENSP00000404545:R594S;ENSP00000292123:R764S;ENSP00000438880:R606S	.	R	+	3	2	SAFB	5615408	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	4.796000	0.62496	2.492000	0.84095	0.655000	0.94253	AGG		0.448	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2		Missense_Mutation	8	28	1	0	0.00448238	1	0.00460353	8	28					T	5664408	G	T	5664408	5	4	437	1	0	0	0	0	0	0	1	0	13806	1188	41	5	2358	5	SAFB	19	5664408	Splice_Site	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08		5664408	53464575	52	30245											
FBN3	84467	broad.mit.edu	37	chr19	8203370	8203370	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtcacagcagcactgcCtgcgagtgtagtggccggcg	6	7	14	14	3	1	0	1	0	0	0	1	1	1	0	3	2	4	3	3	2	1	1			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:8203370C>A	ENST00000600128.1	-	9	1358	c.944G>T	c.(943-945)aGg>aTg	p.R315M	FBN3_ENST00000601739.1_Missense_Mutation_p.R315M|FBN3_ENST00000270509.2_Missense_Mutation_p.R315M			Q75N90	FBN3_HUMAN	fibrillin 3	315	TB 2.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			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						GCAGCACTGCCTGCGAGTGTA	0.662																																						ENST00000600128.1																			0				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						c.(943-945)aGg>aTg		fibrillin 3							26	28	27					19																	8203370		2203	4299	6502	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8203370C>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.944G>T	19.37:g.8203370C>A	ENSP00000470498:p.Arg315Met					FBN3_ENST00000270509.2_Missense_Mutation_p.R315M|FBN3_ENST00000601739.1_Missense_Mutation_p.R315M	p.R315M			Q75N90	FBN3_HUMAN			9	1358	-			315			TB 2.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.944G>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	12.43	1.937079	0.34189	.	.	ENSG00000142449	ENST00000270509	D	0.92299	-3.01	4.06	2.91	0.33838	Matrix fibril-associated (3);TGF-beta binding (1);	0.178902	0.45126	U	0.000385	T	0.78811	0.4342	N	0.04768	-0.165	0.20403	N	0.999902	B	0.22146	0.065	B	0.18561	0.022	T	0.65890	-0.6058	10	0.27785	T	0.31	.	6.6156	0.22774	0.2649:0.4496:0.2855:0.0	.	315	Q75N90	FBN3_HUMAN	M	315	ENSP00000270509:R315M	ENSP00000270509:R315M	R	-	2	0	FBN3	8109370	1.000000	0.71417	0.967000	0.41034	0.685000	0.39939	2.261000	0.43276	1.974000	0.57490	0.556000	0.70494	AGG		0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		3	23	1	0	0.115264	1	0.115264	3	23					A	8203370	C	A	8203370	3	1	437	1	0	0	0	0	1	0	0	0	5704	681	24	5	7709	5	FBN3	19	8203370	Missense_Mutation	SNP	C	TCGA-XK-AAJA-01A-11D-A41K-08	2538962	8203370	50925613	53	30246											
ANGPTL6	83854	broad.mit.edu	37	chr19	10204481	10204481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatactgacactacgtgaCggcccactcgcagttcatac	11	8	7	15	3	1	2	1	2	0	0	2	2	1	2	2	1	3	2	2	1	3	4	rs369036998		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:10204481C>T	ENST00000253109.4	-	4	1077	c.839G>A	c.(838-840)cGt>cAt	p.R280H	ANGPTL6_ENST00000589181.1_Intron|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.R280H	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	280	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CACTACGTGACGGCCCACTCG	0.597																																						ENST00000253109.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12						c.(838-840)cGt>cAt		angiopoietin-like 6		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	189	168	175		839	2.3	0.1	19		175	0,8600		0,0,4300	no	missense	ANGPTL6	NM_031917.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	280/471	10204481	1,13005	2203	4300	6503	SO:0001583	missense	83854				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	g.chr19:10204481C>T	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"Fibrinogen C domain containing"	23140	protein-coding gene	gene with protein product	"angiopoietin-related protein 5"	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.839G>A	19.37:g.10204481C>T	ENSP00000253109:p.Arg280His					ANGPTL6_ENST00000592641.1_Missense_Mutation_p.R280H|ANGPTL6_ENST00000589181.1_Intron	p.R280H	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		4	1077	-			280			Fibrinogen C-terminal.		A5PKV7|Q9BZZ0	Missense_Mutation	SNP	ENST00000253109.4	37	c.839G>A	CCDS12224.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665754	0.47677	2.27E-4	0.0	ENSG00000130812	ENST00000253109	T	0.81247	-1.47	4.57	2.27	0.28462	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.654924	0.15241	N	0.272868	T	0.69151	0.3079	N	0.03608	-0.345	0.22213	N	0.999286	D	0.71674	0.998	P	0.59703	0.862	T	0.57952	-0.7722	10	0.39692	T	0.17	.	5.5644	0.17163	0.0:0.6328:0.1879:0.1793	.	280	Q8NI99	ANGL6_HUMAN	H	280	ENSP00000253109:R280H	ENSP00000253109:R280H	R	-	2	0	ANGPTL6	10065481	0.011000	0.17503	0.086000	0.20670	0.113000	0.19764	0.630000	0.24553	1.124000	0.41980	0.485000	0.47835	CGT		0.597	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	NM_031917		35	86	0	0	0	1	0	35	86					T	10204481	C	T	10204481	3	4	437	1	0	0	0	0	1	0	0	0	618	536	19	1	585	1	ANGPTL6	19	10204481	Missense_Mutation	SNP	C	TCGA-XK-AAJA-01A-11D-A41K-08	2001111	10204481	48924502	54	30247											
PLEKHF1	79156	broad.mit.edu	37	chr19	30165019	30165019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcacactggagctgttgccGgagacgctgcaggccaagaa	10	6	14	11	2	1	2	1	0	0	2	1	4	1	3	2	3	3	4	2	3	2	1			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:30165019G>A	ENST00000436066.3	+	2	739	c.273G>A	c.(271-273)ccG>ccA	p.P91P	PLEKHF1_ENST00000592810.1_Silent_p.P91P	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	91	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|endosome organization (GO:0007032)|positive regulation of autophagy (GO:0010508)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein localization to plasma membrane (GO:0072659)|vesicle organization (GO:0016050)	endosome membrane (GO:0010008)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			AGCTGTTGCCGGAGACGCTGC	0.592																																						ENST00000436066.3																			0				breast(1)|lung(3)|ovary(1)|prostate(1)	6						c.(271-273)ccG>ccA		pleckstrin homology domain containing, family F (with FYVE domain) member 1							82	75	78					19																	30165019		2203	4300	6503	SO:0001819	synonymous_variant	79156				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr19:30165019G>A	AF434818	CCDS12417.1	19q11	2013-01-10				ENSG00000166289		"Zinc fingers, FYVE domain containing", "Pleckstrin homology (PH) domain containing"	20764	protein-coding gene	gene with protein product		615200					Standard	NM_024310		Approved	APPD, MGC4090, PHAFIN1, ZFYVE15	uc002nsh.4	Q96S99		ENST00000436066.3:c.273G>A	19.37:g.30165019G>A						PLEKHF1_ENST00000592810.1_Silent_p.P91P	p.P91P	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	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)		2	739	+	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		91			PH.		Q96K11|Q9BUB9	Silent	SNP	ENST00000436066.3	37	c.273G>A	CCDS12417.1																																																																																				0.592	PLEKHF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459323.1	NM_024310		4	66	0	0	0	1	0	4	66					A	30165019	G	A	30165019	2	1	437	1	0	0	0	0	0	0	0	1	12066	1103	39	2		2	PLEKHF1	19	30165019	Silent	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08	19960538	30165019	28963964	55	30248											
ZNF420	147923	broad.mit.edu	37	chr19	37618488	37618488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaaaccctatgcatgtaagGaatgtgggaaggcctttact	13	10	11	7	0	0	1	0	0	0	1	0	3	0	3	2	3	3	2	2	3	6	4			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:37618488G>A	ENST00000337995.3	+	5	810	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.E199K	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCATGTAAGGAATGTGGGAA	0.398																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(595-597)Gaa>Aaa		zinc finger protein 420							56	58	57					19																	37618488		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37618488G>A	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"Zinc fingers, C2H2-type", "-"	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.595G>A	19.37:g.37618488G>A	ENSP00000338770:p.Glu199Lys					ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.E199K	p.E199K	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	810	+			199					B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.595G>A	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142181	0.57044	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.35973	1.28;1.28	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45397	0.1340	N	0.25647	0.755	0.80722	D	1	D	0.62365	0.991	D	0.79784	0.993	T	0.42716	-0.9435	9	0.49607	T	0.09	.	13.4889	0.61382	0.0:0.0:1.0:0.0	.	199	Q8TAQ5	ZN420_HUMAN	K	199	ENSP00000306102:E199K;ENSP00000338770:E199K	ENSP00000306102:E199K	E	+	1	0	ZNF420	42310328	0.001000	0.12720	1.000000	0.80357	0.981000	0.71138	0.546000	0.23284	2.014000	0.59158	0.655000	0.94253	GAA		0.398	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		24	68	0	0	0	1	0	24	68					A	37618488	G	A	37618488	3	1	437	1	0	0	0	0	1	0	0	0	17894	1175	41	3	605	3	ZNF420	19	37618488	Missense_Mutation	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08	7453469	37618488	21510495	56	30249											
SPTBN4	57731	broad.mit.edu	37	chr19	41009956	41009956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcttgtgggtgcccggCggacacgacttgagcagaac	7	7	16	11	3	0	2	0	1	0	1	0	4	0	3	1	4	3	2	1	4	1	2	rs372472584		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:41009956C>T	ENST00000352632.3	+	12	1668	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	SPTBN4_ENST00000595535.1_Missense_Mutation_p.R528W|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R528W|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R528W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R528W			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	528					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			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)			GGGTGCCCGGCGGACACGACT	0.647																																						ENST00000352632.3																			0				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						c.(1582-1584)Cgg>Tgg		spectrin, beta, non-erythrocytic 4			TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	43	50	48		1582	2	1	19		48	0,8600		0,0,4300	no	missense	SPTBN4	NM_020971.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	528/2565	41009956	1,13005	2203	4300	6503	SO:0001583	missense	57731				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	g.chr19:41009956C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1582C>T	19.37:g.41009956C>T	ENSP00000263373:p.Arg528Trp					SPTBN4_ENST00000344104.3_Missense_Mutation_p.R528W|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R528W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R528W|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R528W	p.R528W			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		12	1668	+			528					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.1582C>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	c	18.72	3.685207	0.68157	2.27E-4	0.0	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.53640	0.61;0.61;0.61	4.35	1.95	0.26073	.	0.000000	0.64402	U	0.000008	T	0.69124	0.3076	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.981;0.984	T	0.75491	-0.3299	10	0.72032	D	0.01	.	12.4109	0.55466	0.3131:0.6869:0.0:0.0	.	528;528	Q9H254;Q71S06	SPTN4_HUMAN;.	W	528	ENSP00000263373:R528W;ENSP00000340345:R528W;ENSP00000340741:R528W	ENSP00000340345:R528W	R	+	1	2	SPTBN4	45701796	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	-0.837000	0.04377	0.977000	0.38444	0.486000	0.48141	CGG		0.647	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			9	26	0	0	0	1	0	9	26					T	41009956	C	T	41009956	3	4	437	1	0	0	0	0	1	0	0	0	15120	759	27	1	1624	1	SPTBN4	19	41009956	Missense_Mutation	SNP	C	TCGA-XK-AAJA-01A-11D-A41K-08	3391468	41009956	18119027	57	30250											
TMPRSS2	7113	broad.mit.edu	37	chr21	42840428	42840428	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctctgtgtctcaatgagAagcaccttggcagcgttcag	9	11	10	11	1	3	1	2	1	2	1	5	2	3	1	1	1	2	3	1	1	2	2			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr21:42840428A>C	ENST00000332149.5	-	12	1343	c.1209T>G	c.(1207-1209)ctT>ctG	p.L403L	TMPRSS2_ENST00000398585.3_Silent_p.L440L|TMPRSS2_ENST00000458356.1_Silent_p.L403L	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	403	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TCTCAATGAGAAGCACCTTGG	0.537			T	"ERG, ETV1, ETV4, ETV5"	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"transmembrane protease, serine 2"			E	"ERG, ETV1, ETV4, ETV5"		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1318-1320)ctT>ctG		transmembrane protease, serine 2							187	141	157					21																	42840428		2203	4300	6503	SO:0001819	synonymous_variant	0				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42840428A>C	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"Serine peptidases / Transmembrane"	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.1209T>G	21.37:g.42840428A>C						TMPRSS2_ENST00000458356.1_Silent_p.L403L|TMPRSS2_ENST00000332149.5_Silent_p.L403L	p.L440L	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN			12	1380	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	403			Peptidase S1.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Silent	SNP	ENST00000332149.5	37	c.1320T>G	CCDS33564.1																																																																																				0.537	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			17	31	0	0	0	1	0	17	31					C	42840428	A	C	42840428	2	2	437	1	0	0	0	0	0	0	0	1	16244	233	9	5		5	TMPRSS2	21	42840428	Silent	SNP	A	TCGA-XK-AAJA-01A-11D-A41K-08		42840428	5289467	58	30251											
SEPT5	5413	broad.mit.edu	37	chr22	19709995	19709995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaggatgaagcagcagatGcaggaccagtgacgctcgcc	12	4	14	11	2	0	4	0	2	0	2	1	6	0	6	2	2	3	4	2	2	1	0			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr22:19709995G>A	ENST00000455784.2	+	12	1223	c.1098G>A	c.(1096-1098)atG>atA	p.M366I	SEPT5_ENST00000406395.1_3'UTR|SEPT5_ENST00000383045.3_Missense_Mutation_p.M375I|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000438754.2_3'UTR	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	366					cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					AGCAGCAGATGCAGGACCAGT	0.697																																						ENST00000455784.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(1096-1098)atG>atA		septin 5							30	29	30					22																	19709995		2185	4287	6472	SO:0001583	missense	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19709995G>A	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"Septins"	9164	protein-coding gene	gene with protein product		602724	"peanut-like 1 (Drosophila)"	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.1098G>A	22.37:g.19709995G>A	ENSP00000391311:p.Met366Ile					SEPT5_ENST00000438754.2_3'UTR|SEPT5_ENST00000406395.1_3'UTR|SEPT5_ENST00000383045.3_Missense_Mutation_p.M375I	p.M366I	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN			12	1223	+	Colorectal(54;0.0993)		366					O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	c.1098G>A	CCDS13764.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520331	0.85495	.	.	ENSG00000184702	ENST00000455784;ENST00000383045	T;T	0.51574	0.71;0.7	3.57	3.57	0.40892	.	0.054912	0.64402	D	0.000001	T	0.42630	0.1211	L	0.58583	1.82	0.80722	D	1	B	0.19817	0.039	B	0.23275	0.045	T	0.45116	-0.9283	10	0.51188	T	0.08	.	9.5893	0.39537	0.0991:0.0:0.9009:0.0	.	366	Q99719	SEPT5_HUMAN	I	366;375	ENSP00000391311:M366I;ENSP00000372515:M375I	ENSP00000372515:M375I	M	+	3	0	SEPT5	18089995	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	6.161000	0.71868	2.011000	0.59026	0.411000	0.27672	ATG		0.697	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		4	11	0	0	0	1	0	4	11					A	19709995	G	A	19709995	3	1	437	1	0	0	0	0	1	0	0	0	14067	1319	46	3	1144	3	SEPT5	22	19709995	Missense_Mutation	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08		19709995	31594571	59	30252											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31851272	31851272	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtaattccccgagttctGtccaggagagaggatggctt	11	10	12	8	1	1	1	0	0	1	1	3	5	3	3	3	3	0	3	3	3	2	4			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr22:31851272G>C	ENST00000397525.1	-	9	1352	c.1129C>G	c.(1129-1131)Cag>Gag	p.Q377E	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.Q214E|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.Q377E|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.Q56E|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.Q377E	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	377						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCCGAGTTCTGTCCAGGAGAG	0.378																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1129-1131)Cag>Gag		eukaryotic translation initiation factor 4E nuclear import factor 1							74	73	73					22																	31851272		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31851272G>C	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1129C>G	22.37:g.31851272G>C	ENSP00000380659:p.Gln377Glu					EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.Q377E|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.Q214E|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.Q56E|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.Q377E|RP11-247I13.11_ENST00000464523.1_RNA	p.Q377E	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			9	1352	-			377					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.1129C>G	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927817	0.52759	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000420671	.	.	.	5.93	5.93	0.95920	.	0.160029	0.56097	D	0.000025	T	0.71710	0.3372	L	0.53249	1.67	0.54753	D	0.999988	P;D;D;B	0.59357	0.895;0.985;0.971;0.164	P;D;P;B	0.73708	0.56;0.981;0.761;0.142	T	0.64377	-0.6422	9	0.02654	T	1	-5.6912	17.4871	0.87692	0.0:0.0:1.0:0.0	.	214;377;214;377	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	E	214;377;377;377;56;377	.	ENSP00000328103:Q377E	Q	-	1	0	EIF4ENIF1	30181272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.615000	0.90920	2.797000	0.96272	0.655000	0.94253	CAG		0.378	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		3	51	0	0	0	1	0	3	51					C	31851272	G	C	31851272	3	2	437	1	0	0	0	0	1	0	0	0	5035	1386	48	5	1875	5	EIF4ENIF1	22	31851272	Missense_Mutation	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08	12141277	31851272	19453294	60	30253											
CACNA1I	8911	broad.mit.edu	37	chr22	40055483	40055483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagttcagcctccgcacGgacactggagacacggtgcc	9	6	12	14	3	1	1	1	0	0	1	2	3	2	2	3	3	3	3	3	3	1	1	rs374658074		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr22:40055483G>A	ENST00000402142.3	+	13	2376	c.2376G>A	c.(2374-2376)acG>acA	p.T792T	CACNA1I_ENST00000404898.1_Silent_p.T757T|CACNA1I_ENST00000400164.3_Silent_p.T757T|CACNA1I_ENST00000407673.1_Silent_p.T757T|CACNA1I_ENST00000336649.4_Silent_p.T798T|CACNA1I_ENST00000401624.1_Silent_p.T792T	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	792					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCTCCGCACGGACACTGGAG	0.562																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(2392-2394)acG>acA		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	G	,	0,4196		0,0,2098	59	59	59		2271,2376	-5.6	1	22		59	1,8425		0,1,4212	no	coding-synonymous,coding-synonymous	CACNA1I	NM_001003406.1,NM_021096.3	,	0,1,6310	AA,AG,GG		0.0119,0.0,0.0079	,	757/2189,792/2224	40055483	1,12621	2098	4213	6311	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40055483G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.2376G>A	22.37:g.40055483G>A						CACNA1I_ENST00000407673.1_Silent_p.T757T|CACNA1I_ENST00000404898.1_Silent_p.T757T|CACNA1I_ENST00000402142.3_Silent_p.T792T|CACNA1I_ENST00000400164.3_Silent_p.T757T|CACNA1I_ENST00000401624.1_Silent_p.T792T	p.T798T			Q9P0X4	CAC1I_HUMAN			16	2394	+	Melanoma(58;0.0749)		792					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.2394G>A	CCDS46710.1																																																																																				0.562	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		6	9	0	0	0	1	0	6	9					A	40055483	G	A	40055483	2	1	437	1	0	0	0	0	0	0	0	1	2546	1103	39	2		2	CACNA1I	22	40055483	Silent	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08	8204211	40055483	11249083	61	30254											
MAGEB6	158809	broad.mit.edu	37	chrX	26212007	26212007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccgtacctgtgagaaacGccaagagaccaatggtcagc	12	6	11	12	2	1	2	1	1	0	2	2	4	2	2	4	1	3	2	4	1	4	1			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chrX:26212007G>A	ENST00000379034.1	+	2	193	c.44G>A	c.(43-45)cGc>cAc	p.R15H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	15										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGTGAGAAACGCCAAGAGACC	0.577																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(43-45)cGc>cAc		melanoma antigen family B, 6							81	67	72					X																	26212007		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212007G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.44G>A	X.37:g.26212007G>A	ENSP00000368320:p.Arg15His						p.R15H	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	193	+			15					Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.44G>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615900	0.46631	.	.	ENSG00000176746	ENST00000379034	T	0.06608	3.28	2.58	1.7	0.24286	Melanoma associated antigen, MAGE, N-terminal (1);	1.264880	0.05817	N	0.615098	T	0.18676	0.0448	M	0.78916	2.43	0.09310	N	1	D	0.76494	0.999	P	0.57425	0.82	T	0.09952	-1.0651	10	0.54805	T	0.06	.	4.7277	0.12948	0.1875:0.0:0.8125:0.0	.	15	Q8N7X4	MAGB6_HUMAN	H	15	ENSP00000368320:R15H	ENSP00000368320:R15H	R	+	2	0	MAGEB6	26121928	0.000000	0.05858	0.005000	0.12908	0.081000	0.17604	-0.420000	0.07062	0.495000	0.27882	0.594000	0.82650	CGC		0.577	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		18	4	0	0	0	1	0	18	4					A	26212007	G	A	26212007	3	1	437	1	0	0	0	0	1	0	0	0	9179	1087	38	1	46	1	MAGEB6	23	26212007	Missense_Mutation	SNP	G	TCGA-XK-AAJA-01A-11D-A41K-08		26212007	129058553	62	30255											
CDC20	991	broad.mit.edu	37	chr1	43825643	43825643	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcactccgttgccacaggttAtcagaacagactgaaagtac	13	9	8	11	1	2	3	2	1	0	2	3	3	3	3	2	1	3	3	2	1	4	3			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr1:43825643A>T	ENST00000372462.1	+	4	634	c.431A>T	c.(430-432)tAt>tTt	p.Y144F	RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000310955.6_Missense_Mutation_p.Y144F|CDC20_ENST00000478882.1_3'UTR			Q12834	CDC20_HUMAN	cell division cycle 20	144					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCACAGGTTATCAGAACAGA	0.522																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)	ENST00000372462.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(430-432)tAt>tTt		cell division cycle 20							152	166	161					1																	43825643		2203	4300	6503	SO:0001583	missense	991				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	g.chr1:43825643A>T	U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"WD repeat domain containing"	1723	protein-coding gene	gene with protein product		603618	"CDC20 (cell division cycle 20, S. cerevisiae, homolog)", "CDC20 cell division cycle 20 homolog (S. cerevisiae)", "cell division cycle 20 homolog (S. cerevisiae)"			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.431A>T	1.37:g.43825643A>T	ENSP00000361540:p.Tyr144Phe					CDC20_ENST00000478882.1_3'UTR|CDC20_ENST00000310955.6_Missense_Mutation_p.Y144F	p.Y144F			Q12834	CDC20_HUMAN			4	634	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	144					B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	ENST00000372462.1	37	c.431A>T	CCDS484.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781072	0.49891	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.08282	3.11;3.11	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.09818	0.0241	L	0.39397	1.21	0.58432	D	0.999998	B	0.25390	0.125	B	0.25759	0.063	T	0.16689	-1.0394	10	0.30078	T	0.28	-16.6616	16.3721	0.83368	1.0:0.0:0.0:0.0	.	144	Q12834	CDC20_HUMAN	F	120;144;144	ENSP00000308450:Y144F;ENSP00000361540:Y144F	ENSP00000308450:Y144F	Y	+	2	0	CDC20	43598230	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.399000	0.79935	2.257000	0.74773	0.533000	0.62120	TAT		0.522	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		5	158	0	0	0	1	0	5	158					T	43825643	A	T	43825643	3	4	438	1	0	0	0	0	1	0	0	0	3059	449	16	5	445	5	CDC20	1	43825643	Missense_Mutation	SNP	A	TCGA-XK-AAJP-01A-11D-A41K-08		43825643	205424978	1	30256											
NCSTN	23385	broad.mit.edu	37	chr1	160314581	160314581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaacagctccctgtgttcGcctgctcaacgccactcatc	9	10	6	16	2	2	0	2	0	0	0	5	0	3	0	3	0	4	3	3	0	3	2			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr1:160314581G>A	ENST00000294785.5	+	2	280	c.155G>A	c.(154-156)cGc>cAc	p.R52H	COPA_ENST00000241704.7_5'Flank|NCSTN_ENST00000535857.1_Missense_Mutation_p.R52H|NCSTN_ENST00000392212.4_Missense_Mutation_p.R32H|NCSTN_ENST00000368063.1_Missense_Mutation_p.R32H|COPA_ENST00000368069.3_5'Flank	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	52					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCTGTGTTCGCCTGCTCAAC	0.423																																						ENST00000368063.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34						c.(94-96)cGc>cAc		nicastrin							93	80	84					1																	160314581		2203	4300	6503	SO:0001583	missense	23385				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	g.chr1:160314581G>A	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.155G>A	1.37:g.160314581G>A	ENSP00000294785:p.Arg52His					NCSTN_ENST00000392212.4_Missense_Mutation_p.R32H|NCSTN_ENST00000294785.5_Missense_Mutation_p.R52H|NCSTN_ENST00000535857.1_Missense_Mutation_p.R52H	p.R32H			Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	375	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		52					Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.95G>A	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901365	0.92035	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000437169;ENST00000421914;ENST00000535857;ENST00000438008;ENST00000392212	D;D;T;T;D;T;D	0.88664	-2.41;-2.31;-0.98;-1.33;-1.52;-1.06;-2.31	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.996	D	0.94999	0.8141	10	0.72032	D	0.01	-9.4485	14.2472	0.65995	0.0:0.0:1.0:0.0	.	52;32;52	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	H	52;32;52;52;52;85;32	ENSP00000294785:R52H;ENSP00000357042:R32H;ENSP00000415442:R52H;ENSP00000390409:R52H;ENSP00000442605:R52H;ENSP00000389370:R85H;ENSP00000376047:R32H	ENSP00000294785:R52H	R	+	2	0	NCSTN	158581205	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	8.442000	0.90317	2.366000	0.80165	0.557000	0.71058	CGC		0.423	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		34	17	0	0	0	1	0	34	17					A	160314581	G	A	160314581	3	1	438	1	0	0	0	0	1	0	0	0	10241	1087	38	1	161	1	NCSTN	1	160314581	Missense_Mutation	SNP	G	TCGA-XK-AAJP-01A-11D-A41K-08	116488938	160314581	88936040	2	30257											
CUL3	8452	broad.mit.edu	37	chr2	225371708	225371708	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgactaaataacttgtacAtgcaaccaaggtctacaaat	17	9	5	10	1	1	0	0	0	1	0	1	1	1	0	1	1	5	2	1	1	8	5			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr2:225371708A>C	ENST00000264414.4	-	7	1234	c.896T>G	c.(895-897)aTg>aGg	p.M299R	CUL3_ENST00000409777.1_Missense_Mutation_p.M275R|CUL3_ENST00000344951.4_Missense_Mutation_p.M233R|CUL3_ENST00000409096.1_Missense_Mutation_p.M275R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	299					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.M299R(1)		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)		TAACTTGTACATGCAACCAAG	0.358																																						ENST00000264414.4																			1	Substitution - Missense(1)	p.M299R(1)	prostate(1)	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						c.(895-897)aTg>aGg		cullin 3							81	71	74					2																	225371708		2203	4300	6503	SO:0001583	missense	8452				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	g.chr2:225371708A>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.896T>G	2.37:g.225371708A>C	ENSP00000264414:p.Met299Arg					CUL3_ENST00000344951.4_Missense_Mutation_p.M233R|CUL3_ENST00000409096.1_Missense_Mutation_p.M275R|CUL3_ENST00000409777.1_Missense_Mutation_p.M275R	p.M299R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	7	1234	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	299					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.896T>G	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.685114	0.88639	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	5.62	5.62	0.85841	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91978	0.7459	H	0.95645	3.7	0.80722	D	1	D;D;D	0.56968	0.973;0.978;0.978	P;P;P	0.61397	0.822;0.888;0.888	D	0.94256	0.7498	10	0.87932	D	0	.	15.8227	0.78673	1.0:0.0:0.0:0.0	.	233;277;299	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	R	299;233;275;275	ENSP00000264414:M299R;ENSP00000343601:M233R;ENSP00000387200:M275R;ENSP00000386525:M275R	ENSP00000264414:M299R	M	-	2	0	CUL3	225079952	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.932000	0.92897	2.155000	0.67459	0.482000	0.46254	ATG		0.358	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			14	23	0	0	0	1	0	14	23					C	225371708	A	C	225371708	3	2	438	1	0	0	0	0	1	0	0	0	4056	217	8	5	1450	5	CUL3	2	225371708	Missense_Mutation	SNP	A	TCGA-XK-AAJP-01A-11D-A41K-08		225371708	17827665	3	30258											
SLC6A6	6533	broad.mit.edu	37	chr3	14509388	14509388	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgacgctgggactcagataTtcttctcttatgccatctgc	7	15	8	11	1	4	2	1	1	3	1	5	3	4	3	1	1	2	1	1	1	2	5			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr3:14509388T>C	ENST00000454876.2	+	8	1224	c.895T>C	c.(895-897)Ttc>Ctc	p.F299L	SLC6A6_ENST00000360861.3_Missense_Mutation_p.F299L			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	299					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GACTCAGATATTCTTCTCTTA	0.577											OREG0015421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(895-897)Ttc>Ctc		solute carrier family 6 (neurotransmitter transporter), member 6							58	54	56					3																	14509388		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14509388T>C		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.895T>C	3.37:g.14509388T>C	ENSP00000398063:p.Phe299Leu		OREG0015421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	695	SLC6A6_ENST00000360861.3_Missense_Mutation_p.F299L	p.F299L			P31641	SC6A6_HUMAN			8	1224	+			299					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.895T>C	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.403228	0.62288	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.79845	-1.31;-1.31	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.85410	0.5690	M	0.89030	3	0.80722	D	1	B	0.32507	0.373	B	0.37550	0.253	D	0.86708	0.1934	10	0.66056	D	0.02	.	15.332	0.74219	0.0:0.0:0.0:1.0	.	299	P31641	SC6A6_HUMAN	L	299	ENSP00000398063:F299L;ENSP00000354107:F299L	ENSP00000354107:F299L	F	+	1	0	SLC6A6	14484392	1.000000	0.71417	0.985000	0.45067	0.316000	0.28119	8.013000	0.88655	2.021000	0.59480	0.383000	0.25322	TTC		0.577	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		13	25	0	0	0	1	0	13	25					C	14509388	T	C	14509388	3	2	438	1	0	0	0	0	1	0	0	0	14688	1493	52	4	921	4	SLC6A6	3	14509388	Missense_Mutation	SNP	T	TCGA-XK-AAJP-01A-11D-A41K-08		14509388	183513042	4	30259											
ROBO2	6092	broad.mit.edu	37	chr3	77651486	77651486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttccagccaaataacacagGctaccccatatgccacgaca	14	6	6	15	1	0	0	0	0	0	0	1	1	1	0	5	1	4	2	5	1	4	4			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr3:77651486G>A	ENST00000461745.1	+	20	3880	c.2980G>A	c.(2980-2982)Gct>Act	p.A994T	ROBO2_ENST00000332191.8_Missense_Mutation_p.A994T|ROBO2_ENST00000487694.3_Missense_Mutation_p.A1010T	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	994					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			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)		AATAACACAGGCTACCCCATA	0.438																																						ENST00000461745.1																			0				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						c.(2980-2982)Gct>Act		roundabout, axon guidance receptor, homolog 2 (Drosophila)							111	106	108					3																	77651486		2017	4178	6195	SO:0001583	missense	6092				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	g.chr3:77651486G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2980G>A	3.37:g.77651486G>A	ENSP00000417164:p.Ala994Thr					ROBO2_ENST00000332191.8_Missense_Mutation_p.A994T|ROBO2_ENST00000487694.3_Missense_Mutation_p.A1010T	p.A994T	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		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)	20	3880	+			994					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2980G>A	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.09|15.09	2.730411|2.730411	0.48939|0.48939	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191|ENST00000398467;ENST00000471893	T;T;T|.	0.61158|.	0.13;0.17;0.13|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.000000|.	0.45606|.	D|.	0.000349|.	T|T	0.28001|0.28001	0.0690|0.0690	N|N	0.03608|0.03608	-0.345|-0.345	0.31297|.	N|.	0.688752|.	B;B;B|.	0.06786|.	0.001;0.001;0.0|.	B;B;B|.	0.09377|.	0.003;0.004;0.003|.	T|T	0.39418|0.39418	-0.9615|-0.9615	9|5	0.36615|0.15066	T|T	0.2|0.55	.|.	13.3588|13.3588	0.60644|0.60644	0.0719:0.0:0.9281:0.0|0.0719:0.0:0.9281:0.0	.|.	1010;994;994|.	Q19AB5;F8W703;Q9HCK4|.	.;.;ROBO2_HUMAN|.	T|D	1010;1010;1014;994;994|555;68	ENSP00000417335:A1010T;ENSP00000417164:A994T;ENSP00000327536:A994T|.	ENSP00000327536:A994T|ENSP00000381485:G555D	A|G	+|+	1|2	0|0	ROBO2|ROBO2	77734176|77734176	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.690000|7.690000	0.84178|0.84178	2.769000|2.769000	0.95229|0.95229	0.561000|0.561000	0.74099|0.74099	GCT|GGC		0.438	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		21	25	0	0	0	1	0	21	25					A	77651486	G	A	77651486	3	1	438	1	0	0	0	0	1	0	0	0	13514	1203	42	3	3060	3	ROBO2	3	77651486	Missense_Mutation	SNP	G	TCGA-XK-AAJP-01A-11D-A41K-08	63142098	77651486	120370944	5	30260											
GRK7	131890	broad.mit.edu	37	chr3	141497196	141497196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcaggcccggaagccctcgGactgcgacagcaaagagctg	10	4	14	13	3	0	1	0	0	0	1	1	4	0	3	2	3	5	3	2	3	2	0			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr3:141497196G>A	ENST00000264952.2	+	1	207	c.70G>A	c.(70-72)Gac>Aac	p.D24N		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	24					protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GAAGCCCTCGGACTGCGACAG	0.692																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(70-72)Gac>Aac		G protein-coupled receptor kinase 7							33	41	38					3																	141497196		2201	4297	6498	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141497196G>A		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.70G>A	3.37:g.141497196G>A	ENSP00000264952:p.Asp24Asn						p.D24N	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			1	207	+			24						Missense_Mutation	SNP	ENST00000264952.2	37	c.70G>A	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	G	9.724	1.160564	0.21454	.	.	ENSG00000114124	ENST00000264952	T	0.61627	0.09	4.5	4.5	0.54988	.	0.237775	0.42821	D	0.000660	T	0.50394	0.1613	L	0.52126	1.63	0.27374	N	0.955605	B	0.32245	0.361	B	0.26969	0.075	T	0.44345	-0.9334	10	0.25106	T	0.35	-4.7678	17.2258	0.86970	0.0:0.0:1.0:0.0	.	24	Q8WTQ7	GRK7_HUMAN	N	24	ENSP00000264952:D24N	ENSP00000264952:D24N	D	+	1	0	GRK7	142979886	1.000000	0.71417	0.057000	0.19452	0.132000	0.20833	6.984000	0.76186	2.033000	0.60031	0.655000	0.94253	GAC		0.692	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		20	37	0	0	0	1	0	20	37					A	141497196	G	A	141497196	3	1	438	1	0	0	0	0	1	0	0	0	6794	1174	41	3	72	3	GRK7	3	141497196	Missense_Mutation	SNP	G	TCGA-XK-AAJP-01A-11D-A41K-08	63845710	141497196	56525234	6	30261											
PROM1	8842	broad.mit.edu	37	chr4	16026833	16026833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctctggagtttcattcaaGagagttcgcaagtccttgaa	11	12	9	9	1	3	2	2	1	1	1	5	4	4	3	2	1	0	3	2	1	3	4			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr4:16026833G>A	ENST00000510224.1	-	6	860	c.612C>T	c.(610-612)ctC>ctT	p.L204L	PROM1_ENST00000540805.1_Silent_p.L204L|PROM1_ENST00000508167.1_Silent_p.L195L|PROM1_ENST00000447510.2_Silent_p.L204L|PROM1_ENST00000505450.1_Silent_p.L195L|PROM1_ENST00000539194.1_Silent_p.L204L|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000543373.1_Silent_p.L195L			O43490	PROM1_HUMAN	prominin 1	204					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TTTCATTCAAGAGAGTTCGCA	0.403																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(583-585)ctC>ctT		prominin 1							172	163	166					4																	16026833		1872	4090	5962	SO:0001819	synonymous_variant	8842				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	g.chr4:16026833G>A	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.612C>T	4.37:g.16026833G>A						PROM1_ENST00000508167.1_Silent_p.L195L|PROM1_ENST00000539194.1_Silent_p.L204L|PROM1_ENST00000543373.1_Silent_p.L195L|PROM1_ENST00000540805.1_Silent_p.L204L|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000510224.1_Silent_p.L204L|PROM1_ENST00000447510.2_Silent_p.L204L	p.L195L	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			5	1197	-			204					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Silent	SNP	ENST00000510224.1	37	c.585C>T	CCDS47029.1																																																																																				0.403	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		45	89	0	0	0	1	0	45	89					A	16026833	G	A	16026833	2	1	438	1	0	0	0	0	0	0	0	1	12555	929	33	3		3	PROM1	4	16026833	Silent	SNP	G	TCGA-XK-AAJP-01A-11D-A41K-08		16026833	175127443	7	30262											
OXCT1	5019	broad.mit.edu	37	chr5	41807440	41807440	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagtcaattacctcaattCttttctcatatttttctccc	9	19	1	12	0	5	0	3	0	3	0	7	0	5	0	2	0	1	0	2	0	5	8			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr5:41807440C>A	ENST00000196371.5	-	8	993	c.833G>T	c.(832-834)aGa>aTa	p.R278I	OXCT1_ENST00000509987.1_Missense_Mutation_p.R92I	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	278					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TACCTCAATTCTTTTCTCATA	0.403																																						ENST00000196371.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.(832-834)aGa>aTa		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						137	130	132					5																	41807440		2203	4300	6503	SO:0001583	missense	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41807440C>A	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"3-oxoacid CoA transferase"	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.833G>T	5.37:g.41807440C>A	ENSP00000196371:p.Arg278Ile					OXCT1_ENST00000509987.1_Missense_Mutation_p.R92I	p.R278I	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN			8	993	-			278					B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	c.833G>T	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983579	0.74474	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	T;T	0.78481	-1.18;-1.18	6.07	6.07	0.98685	.	0.048843	0.85682	D	0.000000	D	0.89536	0.6743	H	0.95917	3.74	0.80722	D	1	D	0.69078	0.997	P	0.56612	0.802	D	0.91877	0.5512	10	0.87932	D	0	-26.4781	12.7183	0.57127	0.0:0.9243:0.0:0.0757	.	278	P55809	SCOT1_HUMAN	I	278;92	ENSP00000196371:R278I;ENSP00000425348:R92I	ENSP00000196371:R278I	R	-	2	0	OXCT1	41843197	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.421000	0.66447	2.885000	0.99019	0.655000	0.94253	AGA		0.403	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		13	61	1	0	3.27435e-08	1	3.50017e-08	13	61					A	41807440	C	A	41807440	3	1	438	1	0	0	0	0	1	0	0	0	11329	913	32	5	769	5	OXCT1	5	41807440	Missense_Mutation	SNP	C	TCGA-XK-AAJP-01A-11D-A41K-08		41807440	139107820	8	30263			1	48		3	3	86	C		6.88748e-09
OXCT1	5019	broad.mit.edu	37	chr5	41807484	41807484	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaggcgatgtacataaatCtgaggaatatggatgtcttc	14	12	10	5	1	2	1	0	1	2	0	3	4	2	3	0	3	1	1	0	3	6	5			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr5:41807484C>T	ENST00000196371.5	-	8	949	c.789G>A	c.(787-789)caG>caA	p.Q263Q	OXCT1_ENST00000509987.1_Silent_p.Q77Q	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	263					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GTACATAAATCTGAGGAATAT	0.348																																						ENST00000196371.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.(787-789)caG>caA		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						124	122	123					5																	41807484		2203	4300	6503	SO:0001819	synonymous_variant	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41807484C>T	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"3-oxoacid CoA transferase"	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.789G>A	5.37:g.41807484C>T						OXCT1_ENST00000509987.1_Silent_p.Q77Q	p.Q263Q	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN			8	949	-			263					B2R5V2|B7Z528	Silent	SNP	ENST00000196371.5	37	c.789G>A	CCDS3937.1																																																																																				0.348	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		27	98	0	0	0	1	0	27	98					T	41807484	C	T	41807484	2	4	438	1	0	0	0	0	0	0	0	1	11329	912	32	3		3	OXCT1	5	41807484	Silent	SNP	C	TCGA-XK-AAJP-01A-11D-A41K-08	44	41807484	139107776	9	30264			1	48		3	3	86	C		6.88748e-09
OXCT1	5019	broad.mit.edu	37	chr5	41807525	41807525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggagcaaatgctccaatatCcacaatttcttcaacctaga	14	11	5	11	0	2	1	1	0	1	1	4	2	4	2	3	1	3	2	3	1	6	4			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr5:41807525C>T	ENST00000196371.5	-	8	908	c.748G>A	c.(748-750)Gat>Aat	p.D250N	OXCT1_ENST00000509987.1_Missense_Mutation_p.D64N	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	250					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GCTCCAATATCCACAATTTCT	0.303																																						ENST00000196371.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.(748-750)Gat>Aat		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						83	84	84					5																	41807525		2203	4300	6503	SO:0001583	missense	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41807525C>T	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"3-oxoacid CoA transferase"	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.748G>A	5.37:g.41807525C>T	ENSP00000196371:p.Asp250Asn					OXCT1_ENST00000509987.1_Missense_Mutation_p.D64N	p.D250N	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN			8	908	-			250					B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	c.748G>A	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638074	0.67130	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	T;T	0.79940	-1.32;-1.32	5.98	5.98	0.97165	3-oxoacid CoA-transferase, subunit A (1);	0.365688	0.31199	N	0.008068	D	0.86527	0.5954	M	0.77103	2.36	0.52501	D	0.999958	B	0.32939	0.391	B	0.43575	0.424	D	0.85871	0.1416	10	0.72032	D	0.01	-10.5771	19.2235	0.93808	0.0:1.0:0.0:0.0	.	250	P55809	SCOT1_HUMAN	N	250;64	ENSP00000196371:D250N;ENSP00000425348:D64N	ENSP00000196371:D250N	D	-	1	0	OXCT1	41843282	1.000000	0.71417	0.970000	0.41538	0.651000	0.38670	7.105000	0.77031	2.838000	0.97847	0.591000	0.81541	GAT		0.303	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		27	83	0	0	0	1	0	27	83					T	41807525	C	T	41807525	3	4	438	1	0	0	0	0	1	0	0	0	11329	855	30	3	854	3	OXCT1	5	41807525	Missense_Mutation	SNP	C	TCGA-XK-AAJP-01A-11D-A41K-08	41	41807525	139107735	10	30265			1	48		3	3	86	C		6.88748e-09
PCDHA10	56139	broad.mit.edu	37	chr5	140235918	140235918	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgaccgcgaggagctgtgCgggcggagcgtggagtgcag	7	6	20	8	5	0	1	0	1	0	0	0	5	0	4	1	4	4	2	1	4	0	1			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr5:140235918C>T	ENST00000307360.5	+	1	285	c.285C>T	c.(283-285)tgC>tgT	p.C95C	PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.C95C|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	95	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGCTGTGCGGGCGGAGCG	0.557																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(283-285)tgC>tgT									124	132	129					5																	140235918		2198	4277	6475	SO:0001819	synonymous_variant	0							g.chr5:140235918C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.285C>T	5.37:g.140235918C>T						PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.C95C|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	p.C95C	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	285	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.285C>T	CCDS54921.1																																																																																				0.557	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		4	203	0	0	0	1	0	4	203					T	140235918	C	T	140235918	2	4	438	1	0	0	0	0	0	0	0	1	11520	776	27	1		1	PCDHA10	5	140235918	Silent	SNP	C	TCGA-XK-AAJP-01A-11D-A41K-08	98428393	140235918	40679342	11	30266											
DST	667	broad.mit.edu	37	chr6	56341013	56341013	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacttctttatccttatcAgtaagtgtagtttcagccca	10	16	6	9	0	3	1	2	1	1	0	4	1	4	1	2	0	1	3	2	0	4	7			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr6:56341013A>T	ENST00000361203.3	-	87	20845	c.20838T>A	c.(20836-20838)acT>acA	p.T6946T	DST_ENST00000370788.2_Silent_p.T4860T|DST_ENST00000244364.6_Silent_p.T4643T|DST_ENST00000446842.2_Silent_p.T6731T|DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Silent_p.T7235T|DST_ENST00000421834.2_Silent_p.T4969T|DST_ENST00000370769.4_Silent_p.T7057T			Q03001	DYST_HUMAN	dystonin	6945					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			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)			TATCCTTATCAGTAAGTGTAG	0.433																																						ENST00000370754.5																			0				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						c.(21703-21705)acT>acA		dystonin							76	74	75					6																	56341013		1919	4119	6038	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56341013A>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20838T>A	6.37:g.56341013A>T						DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Silent_p.T6731T|DST_ENST00000370769.4_Silent_p.T7057T|DST_ENST00000244364.6_Silent_p.T4643T|DST_ENST00000421834.2_Silent_p.T4969T|DST_ENST00000370788.2_Silent_p.T4860T|DST_ENST00000361203.3_Silent_p.T6946T	p.T7235T			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		92	21704	-	Lung NSC(77;0.103)		7055			EF-hand 2.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.21705T>A																																																																																					0.433	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		12	21	0	0	0	1	0	12	21					T	56341013	A	T	56341013	2	4	438	1	0	0	0	0	0	0	0	1	4783	175	7	5		5	DST	6	56341013	Silent	SNP	A	TCGA-XK-AAJP-01A-11D-A41K-08		56341013	114774054	12	30267											
ZNF679	168417	broad.mit.edu	37	chr7	63721245	63721245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagccagacttgatcacctGtctggagcaaaataaagagc	15	8	9	9	0	2	3	1	1	1	2	2	4	2	4	2	1	3	1	2	1	5	3			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr7:63721245G>A	ENST00000421025.1	+	4	469	c.200G>A	c.(199-201)tGt>tAt	p.C67Y	ZNF679_ENST00000255746.4_Missense_Mutation_p.C67Y	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TTGATCACCTGTCTGGAGCAA	0.363																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(199-201)tGt>tAt		zinc finger protein 679							115	100	105					7																	63721245		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63721245G>A	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.200G>A	7.37:g.63721245G>A	ENSP00000416809:p.Cys67Tyr					ZNF679_ENST00000255746.4_Missense_Mutation_p.C67Y	p.C67Y	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			4	469	+			67			KRAB.			Missense_Mutation	SNP	ENST00000421025.1	37	c.200G>A	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	G	0.410	-0.913643	0.02415	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.00760	5.73;5.73	0.235	0.235	0.15431	Krueppel-associated box (3);	.	.	.	.	T	0.00754	0.0025	L	0.35723	1.085	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43814	-0.9368	8	0.30078	T	0.28	.	.	.	.	.	67	Q8IYX0	ZN679_HUMAN	Y	67	ENSP00000416809:C67Y;ENSP00000255746:C67Y	ENSP00000255746:C67Y	C	+	2	0	ZNF679	63358680	0.014000	0.17966	0.097000	0.21041	0.100000	0.18952	-0.237000	0.08990	0.308000	0.22923	0.313000	0.20887	TGT		0.363	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		22	24	0	0	0	1	0	22	24					A	63721245	G	A	63721245	3	1	438	1	0	0	0	0	1	0	0	0	18083	1377	48	3	210	3	ZNF679	7	63721245	Missense_Mutation	SNP	G	TCGA-XK-AAJP-01A-11D-A41K-08		63721245	95417418	13	30268											
CALCR	799	broad.mit.edu	37	chr7	93108738	93108738	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatccatcatcttctttcGtcctacgacgtaaagaaatg	11	13	6	11	3	3	1	1	0	2	1	6	2	5	1	2	0	2	2	2	0	4	4			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr7:93108738G>A	ENST00000394441.1	-	3	448	c.133C>T	c.(133-135)Cga>Tga	p.R45*	CALCR_ENST00000421592.1_Nonsense_Mutation_p.R45*|CALCR_ENST00000426151.1_Nonsense_Mutation_p.R45*|CALCR_ENST00000360249.4_Nonsense_Mutation_p.R45*|CALCR_ENST00000359558.2_Nonsense_Mutation_p.R63*	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	63					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.R45*(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	ATCTTCTTTCGTCCTACGACG	0.398																																						ENST00000359558.2																			1	Substitution - Nonsense(1)	p.R45*(1)	ovary(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(187-189)Cga>Tga		calcitonin receptor	Salmon Calcitonin(DB00017)						242	224	230					7																	93108738		2203	4300	6503	SO:0001587	stop_gained	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93108738G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.133C>T	7.37:g.93108738G>A	ENSP00000377959:p.Arg45*					CALCR_ENST00000360249.4_Nonsense_Mutation_p.R45*|CALCR_ENST00000394441.1_Nonsense_Mutation_p.R45*|CALCR_ENST00000426151.1_Nonsense_Mutation_p.R45*|CALCR_ENST00000421592.1_Nonsense_Mutation_p.R45*	p.R63*	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		5	486	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		45					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Nonsense_Mutation	SNP	ENST00000394441.1	37	c.187C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	36	5.639469	0.96693	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	.	.	.	5.21	2.28	0.28536	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2636	0.54665	0.0:0.0:0.5273:0.4726	.	.	.	.	X	63;45;45;45;45;45	.	ENSP00000352561:R63X	R	-	1	2	CALCR	92946674	0.013000	0.17824	0.003000	0.11579	0.036000	0.12997	1.233000	0.32648	0.384000	0.24942	0.650000	0.86243	CGA		0.398	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		52	73	0	0	0	1	0	52	73					A	93108738	G	A	93108738	4	1	438	1	0	0	0	0	0	1	0	0	2579	1153	40	1	1387	1	CALCR	7	93108738	Nonsense_Mutation	SNP	G	TCGA-XK-AAJP-01A-11D-A41K-08	29387493	93108738	66029925	14	30269											
RELN	5649	broad.mit.edu	37	chr7	103234815	103234815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgatctgcttctgcttctCggacagaatgatgatgtcat	9	14	10	8	1	4	4	1	3	3	1	5	6	4	5	0	1	2	2	0	1	1	2			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr7:103234815C>T	ENST00000428762.1	-	26	3823	c.3664G>A	c.(3664-3666)Gag>Aag	p.E1222K	RELN_ENST00000424685.2_Missense_Mutation_p.E1222K|RELN_ENST00000343529.5_Missense_Mutation_p.E1222K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1222					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			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)		TTCTGCTTCTCGGACAGAATG	0.488																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				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						c.(3664-3666)Gag>Aag		reelin							282	272	276					7																	103234815		2203	4300	6503	SO:0001583	missense	5649				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	g.chr7:103234815C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3664G>A	7.37:g.103234815C>T	ENSP00000392423:p.Glu1222Lys					RELN_ENST00000343529.5_Missense_Mutation_p.E1222K|RELN_ENST00000424685.2_Missense_Mutation_p.E1222K	p.E1222K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	26	3823	-			1222					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.3664G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661947	0.88251	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24151	1.87;1.87;1.87	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.76494	0.999;0.997	D;D	0.68039	0.953;0.955	T	0.26224	-1.0109	10	0.46703	T	0.11	.	19.2511	0.93926	0.0:1.0:0.0:0.0	.	1222;1222	P78509-2;P78509	.;RELN_HUMAN	K	1222	ENSP00000392423:E1222K;ENSP00000345694:E1222K;ENSP00000388446:E1222K	ENSP00000345694:E1222K	E	-	1	0	RELN	103022051	1.000000	0.71417	0.949000	0.38748	0.816000	0.46133	5.502000	0.66956	2.534000	0.85438	0.591000	0.81541	GAG		0.488	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		104	137	0	0	0	1	0	104	137					T	103234815	C	T	103234815	3	4	438	1	0	0	0	0	1	0	0	0	13220	893	31	2	6878	2	RELN	7	103234815	Missense_Mutation	SNP	C	TCGA-XK-AAJP-01A-11D-A41K-08	10126077	103234815	55903848	15	30270											
MED30	90390	broad.mit.edu	37	chr8	118533268	118533268	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaccgcaccatggagatCttccagctcctgaggaacat	10	9	10	12	1	1	2	0	1	1	1	3	4	3	3	4	2	3	3	4	2	2	2			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr8:118533268C>A	ENST00000297347.3	+	1	317	c.153C>A	c.(151-153)atC>atA	p.I51I	MED30_ENST00000522839.1_Silent_p.I51I	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	51					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CCATGGAGATCTTCCAGCTCC	0.657																																					Melanoma(81;817 1341 9674 26244 29255)	ENST00000297347.3																			0				kidney(1)|lung(3)|prostate(3)	7						c.(151-153)atC>atA		mediator complex subunit 30							37	34	35					8																	118533268		2203	4299	6502	SO:0001819	synonymous_variant	90390				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	g.chr8:118533268C>A	AY083305	CCDS6323.1, CCDS64959.1	8q24.11	2007-07-30	2007-07-30	2007-07-30	ENSG00000164758	ENSG00000164758			23032	protein-coding gene	gene with protein product		610237	"thyroid hormone receptor associated protein 6"	THRAP6			Standard	NM_080651		Approved	TRAP25	uc003yoj.3	Q96HR3	OTTHUMG00000164920	ENST00000297347.3:c.153C>A	8.37:g.118533268C>A						MED30_ENST00000522839.1_Silent_p.I51I	p.I51I	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	STAD - Stomach adenocarcinoma(47;0.0266)		1	317	+	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		51					C6GKU9	Silent	SNP	ENST00000297347.3	37	c.153C>A	CCDS6323.1																																																																																				0.657	MED30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380923.1	NM_080651		28	19	1	0	1.74807e-11	1	1.90141e-11	28	19					A	118533268	C	A	118533268	2	1	438	1	0	0	0	0	0	0	0	1	9448	903	32	5		5	MED30	8	118533268	Silent	SNP	C	TCGA-XK-AAJP-01A-11D-A41K-08		118533268	27830754	16	30271											
PTCHD3	374308	broad.mit.edu	37	chr10	27702556	27702556	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaccaccagaagcgagacGaaattggcttcggtgctcct	11	7	12	11	3	0	3	0	0	0	3	2	6	1	3	3	2	2	2	3	2	2	2			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr10:27702556G>A	ENST00000438700.3	-	1	741	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	208					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.F208F(1)		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						GAAGCGAGACGAAATTGGCTT	0.632																																						ENST00000438700.3																			1	Substitution - coding silent(1)	p.F208F(1)	large_intestine(1)	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						c.(622-624)ttC>ttT		patched domain containing 3							52	55	54					10																	27702556		2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702556G>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.624C>T	10.37:g.27702556G>A							p.F208F	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			1	741	-			208					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.624C>T	CCDS31173.1																																																																																				0.632	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		16	36	0	0	0	1	0	16	36					A	27702556	G	A	27702556	2	1	438	1	0	0	0	0	0	0	0	1	12734	1049	37	2		2	PTCHD3	10	27702556	Silent	SNP	G	TCGA-XK-AAJP-01A-11D-A41K-08		27702556	107832191	17	30272											
CHAT	1103	broad.mit.edu	37	chr10	50870746	50870746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgcgggagctggcccGggccatgtgcaaggagctgc	6	5	18	12	2	0	0	0	0	0	0	0	2	0	2	2	5	5	4	2	5	1	0			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr10:50870746G>A	ENST00000337653.2	+	14	2048	c.1895G>A	c.(1894-1896)cGg>cAg	p.R632Q	CHAT_ENST00000351556.3_Missense_Mutation_p.R514Q|CHAT_ENST00000395562.2_Missense_Mutation_p.R550Q|CHAT_ENST00000395559.2_Missense_Mutation_p.R514Q|CHAT_ENST00000455728.2_Missense_Mutation_p.R514Q|CHAT_ENST00000339797.1_Missense_Mutation_p.R514Q	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	632					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GAGCTGGCCCGGGCCATGTGC	0.587																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1648-1650)cGg>cAg		choline O-acetyltransferase	Choline(DB00122)						133	128	130					10																	50870746		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50870746G>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1895G>A	10.37:g.50870746G>A	ENSP00000337103:p.Arg632Gln					CHAT_ENST00000337653.2_Missense_Mutation_p.R632Q|CHAT_ENST00000395559.2_Missense_Mutation_p.R514Q|CHAT_ENST00000339797.1_Missense_Mutation_p.R514Q|CHAT_ENST00000351556.3_Missense_Mutation_p.R514Q|CHAT_ENST00000455728.2_Missense_Mutation_p.R514Q	p.R550Q	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	15	2118	+		all_neural(218;0.107)	632					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1649G>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	6.316	0.426417	0.11987	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.56	2.72	0.32119	.	0.258490	0.40385	N	0.001108	T	0.75324	0.3834	N	0.16790	0.44	0.42692	D	0.993587	B;B	0.27932	0.194;0.187	B;B	0.16289	0.008;0.015	T	0.63571	-0.6607	10	0.17369	T	0.5	-12.2358	8.5172	0.33253	0.2922:0.0:0.7078:0.0	.	514;632	F8W8I2;P28329	.;CLAT_HUMAN	Q	514;514;514;632;550;514	ENSP00000343486:R514Q;ENSP00000345878:R514Q;ENSP00000378926:R514Q;ENSP00000337103:R632Q;ENSP00000378929:R550Q;ENSP00000390521:R514Q	ENSP00000337103:R632Q	R	+	2	0	CHAT	50540752	0.999000	0.42202	0.438000	0.26821	0.310000	0.27922	2.933000	0.48948	0.322000	0.23283	0.655000	0.94253	CGG		0.587	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		41	63	0	0	0	1	0	41	63					A	50870746	G	A	50870746	3	1	438	1	0	0	0	0	1	0	0	0	3313	1116	39	2	1993	2	CHAT	10	50870746	Missense_Mutation	SNP	G	TCGA-XK-AAJP-01A-11D-A41K-08	23168190	50870746	84664001	18	30273											
MRVI1	10335	broad.mit.edu	37	chr11	10624677	10624677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagactcacctggcggacgGcgcctaccacctcagctcgg	8	5	12	16	4	2	1	2	0	0	1	3	3	2	2	4	4	2	1	4	4	1	1			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr11:10624677G>A	ENST00000436272.1	-	13	1862	c.1784C>T	c.(1783-1785)gCc>gTc	p.A595V	MRVI1_ENST00000547195.1_Missense_Mutation_p.A531V|MRVI1_ENST00000421747.1_Missense_Mutation_p.A613V|MRVI1_ENST00000527509.2_Missense_Mutation_p.A531V|MRVI1_ENST00000531107.1_Missense_Mutation_p.A614V|MRVI1_ENST00000423302.2_Missense_Mutation_p.A622V|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000545852.1_Missense_Mutation_p.A307V|MRVI1_ENST00000552103.1_Missense_Mutation_p.A531V|MRVI1_ENST00000534266.2_Missense_Mutation_p.A307V|MRVI1_ENST00000424001.1_Missense_Mutation_p.A307V|MRVI1_ENST00000541483.1_Missense_Mutation_p.A416V|MRVI1_ENST00000558540.1_Missense_Mutation_p.A307V			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	595					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTGGCGGACGGCGCCTACCAC	0.612																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(1591-1593)gCc>gTc		murine retrovirus integration site 1 homolog							17	21	20					11																	10624677		1981	4140	6121	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10624677G>A	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1784C>T	11.37:g.10624677G>A	ENSP00000412229:p.Ala595Val					MRVI1_ENST00000558540.1_Missense_Mutation_p.A307V|MRVI1_ENST00000552103.1_Missense_Mutation_p.A531V|MRVI1_ENST00000423302.2_Missense_Mutation_p.A622V|MRVI1_ENST00000421747.1_Missense_Mutation_p.A613V|MRVI1_ENST00000424001.1_Missense_Mutation_p.A307V|MRVI1_ENST00000534266.2_Missense_Mutation_p.A307V|MRVI1_ENST00000545852.1_Missense_Mutation_p.A307V|MRVI1_ENST00000541483.1_Missense_Mutation_p.A416V|MRVI1_ENST00000436272.1_Missense_Mutation_p.A595V|MRVI1_ENST00000531107.1_Missense_Mutation_p.A614V|MRVI1_ENST00000527509.2_Missense_Mutation_p.A531V|LYVE1_ENST00000531706.1_Intron	p.A531V	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	13	2092	-			595			Interaction with ITPR1 (By similarity).		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.1592C>T		.	.	.	.	.	.	.	.	.	.	G	31	5.086705	0.94100	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.39	5.39	0.77823	.	0.116694	0.56097	D	0.000022	T	0.55513	0.1925	M	0.79123	2.44	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.83275	0.957;0.996;0.996;0.994	T	0.58929	-0.7549	10	0.87932	D	0	-13.2321	19.509	0.95133	0.0:0.0:1.0:0.0	.	416;595;614;613	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	V	613;596;595;531;531;307;307;622;416;614;531	ENSP00000414598:A613V;ENSP00000412229:A595V;ENSP00000448278:A531V;ENSP00000446764:A531V;ENSP00000441971:A307V;ENSP00000401205:A307V;ENSP00000412130:A622V;ENSP00000437784:A416V;ENSP00000432436:A614V;ENSP00000432067:A531V	ENSP00000307885:A596V	A	-	2	0	MRVI1	10581253	1.000000	0.71417	0.929000	0.37066	0.728000	0.41692	9.202000	0.95026	2.682000	0.91365	0.655000	0.94253	GCC		0.612	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		7	3	0	0	0	1	0	7	3					A	10624677	G	A	10624677	3	1	438	1	0	0	0	0	1	0	0	0	9853	1203	42	3	905	3	MRVI1	11	10624677	Missense_Mutation	SNP	G	TCGA-XK-AAJP-01A-11D-A41K-08		10624677	124381839	19	30274											
EI24	9538	broad.mit.edu	37	chr11	125452260	125452260	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agtggctgccttttctctatCctctttcctttattcattat	5	21	4	11	0	3	0	1	0	2	0	6	0	5	0	3	1	1	1	3	1	3	8			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr11:125452260C>G	ENST00000278903.6	+	10	1046	c.804C>G	c.(802-804)atC>atG	p.I268M	STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Missense_Mutation_p.S231C|STT3A-AS1_ENST00000532714.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	268					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	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;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TTTTCTCTATCCTCTTTCCTT	0.353																																						ENST00000278903.6																			0				large_intestine(1)|lung(9)|ovary(1)	11						c.(802-804)atC>atG		etoposide induced 2.4							26	25	25					11																	125452260		1812	4063	5875	SO:0001583	missense	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125452260C>G	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 4 homolog (C. elegans)"	605170	"etoposide induced 2.4 mRNA"			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.804C>G	11.37:g.125452260C>G	ENSP00000278903:p.Ile268Met					STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Missense_Mutation_p.S231C	p.I268M	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	10	1046	+	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)	268					A8K7D6|B4DKL6|Q9BUQ1	Missense_Mutation	SNP	ENST00000278903.6	37	c.804C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.39|12.39	1.923508|1.923508	0.33908|0.33908	.|.	.|.	ENSG00000149547|ENSG00000149547	ENST00000278903|ENST00000343678	.|.	.|.	.|.	5.52|5.52	4.61|4.61	0.57282|0.57282	.|.	0.056030|.	0.64402|.	D|.	0.000001|.	T|T	0.53351|0.53351	0.1791|0.1791	L|L	0.39467|0.39467	1.215|1.215	0.44862|0.44862	D|D	0.997873|0.997873	D;D|D	0.59767|0.63046	0.986;0.986|0.992	P;P|P	0.60473|0.54372	0.875;0.875|0.75	T|T	0.52457|0.52457	-0.8573|-0.8573	9|8	0.52906|0.44086	T|T	0.07|0.13	.|.	9.7071|9.7071	0.40222|0.40222	0.0:0.8397:0.0:0.1603|0.0:0.8397:0.0:0.1603	.|.	254;268|231	B4DKL6;O14681|A6NES3	.;EI24_HUMAN|.	M|C	268|231	.|.	ENSP00000278903:I268M|ENSP00000364081:S231C	I|S	+|+	3|2	3|0	EI24|EI24	124957470|124957470	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.099000|0.099000	0.15210|0.15210	1.336000|1.336000	0.45506|0.45506	0.650000|0.650000	0.86243|0.86243	ATC|TCC		0.353	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879		3	10	0	0	0	1	0	3	10					G	125452260	C	G	125452260	3	3	438	1	0	0	0	0	1	0	0	0	4985	855	30	5	838	5	EI24	11	125452260	Missense_Mutation	SNP	C	TCGA-XK-AAJP-01A-11D-A41K-08	114827583	125452260	9554256	20	30275											
PPP1R1A	5502	broad.mit.edu	37	chr12	54974737	54974737	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtcttaccgagttggcTcccttggaatccagtggtgg	5	12	15	9	1	1	0	0	0	1	0	3	2	3	1	3	6	1	2	3	6	2	3			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr12:54974737T>C	ENST00000257905.8	-	6	671	c.501A>G	c.(499-501)ggA>ggG	p.G167G	PPP1R1A_ENST00000547431.1_Missense_Mutation_p.E94G	NM_006741.3	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	167	Interaction with PPP1R15A.				glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			lung(2)	2						CCGAGTTGGCTCCCTTGGAAT	0.498																																						ENST00000547431.1																			0				lung(2)	2						c.(280-282)gAg>gGg		protein phosphatase 1, regulatory (inhibitor) subunit 1A							228	221	223					12																	54974737		1863	4101	5964	SO:0001819	synonymous_variant	5502				glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity	g.chr12:54974737T>C	U48707	CCDS44912.1	12q13.2	2012-04-17			ENSG00000135447	ENSG00000135447	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9286	protein-coding gene	gene with protein product		613246				8611507	Standard	NM_006741		Approved		uc001sgg.2	Q13522	OTTHUMG00000169934	ENST00000257905.8:c.501A>G	12.37:g.54974737T>C						PPP1R1A_ENST00000257905.8_Silent_p.G167G	p.E94G			Q13522	PPR1A_HUMAN			4	308	-			95					Q6IB01|Q8TBJ2|Q8WWV2	Missense_Mutation	SNP	ENST00000257905.8	37	c.281A>G	CCDS44912.1	.	.	.	.	.	.	.	.	.	.	T	3.318	-0.139332	0.06669	.	.	ENSG00000135447	ENST00000379690;ENST00000553113	.	.	.	4.81	0.61	0.17580	.	.	.	.	.	T	0.51839	0.1698	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39921	-0.9590	4	.	.	.	.	6.1658	0.20390	0.0:0.4499:0.0:0.5501	.	.	.	.	G	94;86	.	.	E	-	2	0	PPP1R1A	53261004	0.996000	0.38824	0.987000	0.45799	0.232000	0.25224	-0.006000	0.12833	0.265000	0.21872	-0.366000	0.07423	GAG		0.498	PPP1R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406604.1	NM_006741		71	114	0	0	0	1	0	71	114					C	54974737	T	C	54974737	2	2	438	1	0	0	0	0	0	0	0	1	12367	1538	54	4		4	PPP1R1A	12	54974737	Silent	SNP	T	TCGA-XK-AAJP-01A-11D-A41K-08		54974737	78877158	21	30276											
GLS2	27165	broad.mit.edu	37	chr12	56868873	56868873	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcataattccgatccccTgtttccttctctgactggaa	8	14	7	12	1	1	1	0	1	1	0	5	3	4	2	4	2	0	2	4	2	2	4	rs376381453		TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr12:56868873T>C	ENST00000311966.4	-	10	1229	c.951A>G	c.(949-951)acA>acG	p.T317T	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	317					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	TCCGATCCCCTGTTTCCTTCT	0.473													T|||	1	0.000199681	0	0	5008	,	,		2279	0		0	False		,,,				2504	0.001					ENST00000311966.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(949-951)acA>acG		glutaminase 2 (liver, mitochondrial)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	T		0,4406		0,0,2203	149	158	155		951	-9.4	0.9	12		155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GLS2	NM_013267.2		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		317/603	56868873	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56868873T>C		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"Ankyrin repeat domain containing"	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.951A>G	12.37:g.56868873T>C						GLS2_ENST00000476991.1_5'UTR	p.T317T	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN			10	1229	-			317					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Silent	SNP	ENST00000311966.4	37	c.951A>G	CCDS8921.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.135197	0.37728	0.0	1.16E-4	ENSG00000135423	ENST00000461077	.	.	.	5.03	-9.4	0.00616	.	.	.	.	.	T	0.32346	0.0826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41875	-0.9484	5	0.25106	T	0.35	-11.8738	1.6931	0.02856	0.2832:0.331:0.0954:0.2904	.	.	.	.	R	173	.	ENSP00000417244:Q173R	Q	-	2	0	GLS2	55155140	0.000000	0.05858	0.925000	0.36789	0.999000	0.98932	-3.060000	0.00624	-1.326000	0.02266	0.533000	0.62120	CAG		0.473	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		32	98	0	0	0	1	0	32	98					C	56868873	T	C	56868873	2	2	438	1	0	0	0	0	0	0	0	1	6464	1567	55	4		4	GLS2	12	56868873	Silent	SNP	T	TCGA-XK-AAJP-01A-11D-A41K-08	1894136	56868873	76983022	22	30277											
ZCCHC8	55596	broad.mit.edu	37	chr12	122958560	122958560	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtcggagtcgctgtttacGctctcggcctgctcaagagc	6	10	12	13	5	2	1	1	0	1	1	5	2	2	2	1	2	3	4	1	2	2	2			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr12:122958560G>A	ENST00000336229.4	-	14	1738	c.1608C>T	c.(1606-1608)agC>agT	p.S536S	ZCCHC8_ENST00000538116.1_Silent_p.S147S|ZCCHC8_ENST00000543897.1_Silent_p.S298S|ZCCHC8_ENST00000536306.1_Silent_p.S298S	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	536					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			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)		CGCTGTTTACGCTCTCGGCCT	0.552																																						ENST00000543897.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(892-894)agC>agT		zinc finger, CCHC domain containing 8							155	163	160					12																	122958560		2167	4268	6435	SO:0001819	synonymous_variant	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122958560G>A	BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1608C>T	12.37:g.122958560G>A						ZCCHC8_ENST00000538116.1_Silent_p.S147S|ZCCHC8_ENST00000536306.1_Silent_p.S298S|ZCCHC8_ENST00000336229.4_Silent_p.S536S	p.S298S			Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	12	3249	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		536					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Silent	SNP	ENST00000336229.4	37	c.894C>T																																																																																					0.552	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		62	100	0	0	0	1	0	62	100					A	122958560	G	A	122958560	2	1	438	1	0	0	0	0	0	0	0	1	17591	1078	38	1		1	ZCCHC8	12	122958560	Silent	SNP	G	TCGA-XK-AAJP-01A-11D-A41K-08	66089687	122958560	10893335	23	30278											
CCDC62	84660	broad.mit.edu	37	chr12	123286202	123286202	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccagaaaaatgaagcCtgtctgggcgaaagtggcat	12	8	13	8	1	1	2	0	1	1	1	1	3	1	2	2	2	3	2	2	2	4	0			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr12:123286202C>A	ENST00000253079.6	+	9	1853	c.1509C>A	c.(1507-1509)gcC>gcA	p.A503A	CCDC62_ENST00000392441.4_Silent_p.A503A|CCDC62_ENST00000392440.2_Silent_p.A264A|CCDC62_ENST00000537566.1_Silent_p.A264A	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	503					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AAAATGAAGCCTGTCTGGGCG	0.478																																						ENST00000253079.6																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(1507-1509)gcC>gcA		coiled-coil domain containing 62							76	75	75					12																	123286202		2203	4300	6503	SO:0001819	synonymous_variant	84660					cytoplasm|nucleus		g.chr12:123286202C>A		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"cancer/testis antigen 109"	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1509C>A	12.37:g.123286202C>A						CCDC62_ENST00000537566.1_Silent_p.A264A|CCDC62_ENST00000392440.2_Silent_p.A264A|CCDC62_ENST00000392441.4_Silent_p.A503A	p.A503A	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	9	1853	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		503					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Silent	SNP	ENST00000253079.6	37	c.1509C>A	CCDS9238.1																																																																																				0.478	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		3	50	1	0	1	1	1	3	50					A	123286202	C	A	123286202	2	1	438	1	0	0	0	0	0	0	0	1	2833	668	24	5		5	CCDC62	12	123286202	Silent	SNP	C	TCGA-XK-AAJP-01A-11D-A41K-08	327642	123286202	10565693	24	30279											
SACS	26278	broad.mit.edu	37	chr13	23912044	23912044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagtcatctagaaatcttaCgttcttcatggaaacccaag	14	11	7	9	1	5	2	2	0	3	2	5	3	5	3	1	1	2	1	1	1	5	4	rs191995849	byFrequency	TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr13:23912044C>T	ENST00000382292.3	-	9	6244	c.5971G>A	c.(5971-5973)Gta>Ata	p.V1991I	SACS_ENST00000382298.3_Missense_Mutation_p.V1991I|SACS_ENST00000402364.1_Missense_Mutation_p.V1241I			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1991					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			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)		AGAAATCTTACGTTCTTCATG	0.368													C|||	2	0.000399361	0	0.0029	5008	,	,		18567	0		0	False		,,,				2504	0					ENST00000382298.3																			0				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						c.(5971-5973)Gta>Ata		spastic ataxia of Charlevoix-Saguenay (sacsin)							49	50	50					13																	23912044		2203	4300	6503	SO:0001583	missense	26278				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	g.chr13:23912044C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5971G>A	13.37:g.23912044C>T	ENSP00000371729:p.Val1991Ile					SACS_ENST00000402364.1_Missense_Mutation_p.V1241I|SACS_ENST00000382292.3_Missense_Mutation_p.V1991I	p.V1991I	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6559	-		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)	1991					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.5971G>A	CCDS9300.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.28	3.797145	0.70567	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88586	-2.21;-2.4;-2.21	5.79	5.79	0.91817	.	0.064020	0.64402	D	0.000008	D	0.86087	0.5849	L	0.59436	1.845	0.50813	D	0.999895	P	0.48162	0.906	B	0.33690	0.168	D	0.86841	0.2017	10	0.44086	T	0.13	.	20.0368	0.97565	0.0:1.0:0.0:0.0	.	1991	Q9NZJ4	SACS_HUMAN	I	1991;1241;1991	ENSP00000371729:V1991I;ENSP00000385844:V1241I;ENSP00000371735:V1991I	ENSP00000371729:V1991I	V	-	1	0	SACS	22810044	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	5.763000	0.68818	2.727000	0.93392	0.591000	0.81541	GTA		0.368	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		24	53	0	0	0	1	0	24	53					T	23912044	C	T	23912044	3	4	438	1	0	0	0	0	1	0	0	0	13804	536	19	1	7772	1	SACS	13	23912044	Missense_Mutation	SNP	C	TCGA-XK-AAJP-01A-11D-A41K-08		23912044	91257834	25	30280											
RFC3	5983	broad.mit.edu	37	chr13	34399991	34399991	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagtggcacaatcacaacAacttgaaacaaactctcaaa	20	6	4	11	0	2	1	2	1	1	0	3	1	2	1	0	1	5	1	0	1	7	1			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr13:34399991A>C	ENST00000380071.3	+	4	489	c.359A>C	c.(358-360)cAa>cCa	p.Q120P	RFC3_ENST00000434425.1_Missense_Mutation_p.Q120P	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	120					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		CAATCACAACAACTTGAAACA	0.358																																						ENST00000380071.3																			0				lung(2)|skin(1)	3						c.(358-360)cAa>cCa		replication factor C (activator 1) 3, 38kDa							136	125	129					13																	34399991		2203	4300	6503	SO:0001583	missense	5983				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	g.chr13:34399991A>C		CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"ATPases / AAA-type"	9971	protein-coding gene	gene with protein product	"RFC, 38 kD subunit", "A1 38 kDa subunit"	600405	"replication factor C (activator 1) 3 (38kD)"			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.359A>C	13.37:g.34399991A>C	ENSP00000369411:p.Gln120Pro					RFC3_ENST00000434425.1_Missense_Mutation_p.Q120P	p.Q120P	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN		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)	4	489	+		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)	120					C9JU95|O15252|Q5W0E8	Missense_Mutation	SNP	ENST00000380071.3	37	c.359A>C	CCDS9352.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.471531	0.43942	.	.	ENSG00000133119	ENST00000380071;ENST00000434425	T;T	0.48522	0.83;0.81	5.15	5.15	0.70609	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.57140	0.2033	L	0.41492	1.28	0.80722	D	1	D;B;B	0.61697	0.99;0.008;0.008	D;B;B	0.67231	0.95;0.029;0.029	T	0.52830	-0.8523	10	0.29301	T	0.29	-18.7949	14.439	0.67303	1.0:0.0:0.0:0.0	.	120;120;120	B4DKE6;C9JU95;P40938	.;.;RFC3_HUMAN	P	120	ENSP00000369411:Q120P;ENSP00000401001:Q120P	ENSP00000369411:Q120P	Q	+	2	0	RFC3	33297991	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.001000	0.93568	2.074000	0.62210	0.460000	0.39030	CAA		0.358	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044450.2	NM_002915		12	34	0	0	0	1	0	12	34					C	34399991	A	C	34399991	3	2	438	1	0	0	0	0	1	0	0	0	13246	130	5	5	373	5	RFC3	13	34399991	Missense_Mutation	SNP	A	TCGA-XK-AAJP-01A-11D-A41K-08	10487947	34399991	80769887	26	30281											
BAZ1A	11177	broad.mit.edu	37	chr14	35222776	35222776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacattactgggtgtgaCgtggagtccaagcttttgag	8	12	13	8	1	0	2	0	2	0	0	2	3	2	3	2	2	2	1	2	2	2	3	rs544376472		TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr14:35222776C>T	ENST00000382422.2	-	26	4936	c.4609G>A	c.(4609-4611)Gtc>Atc	p.V1537I	BAZ1A_ENST00000360310.1_Missense_Mutation_p.V1537I|BAZ1A_ENST00000358716.4_Missense_Mutation_p.V1505I			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1537					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.V1537I(1)		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)		CTGGGTGTGACGTGGAGTCCA	0.418													C|||	1	0.000199681	8e-04	0	5008	,	,		17139	0		0	False		,,,				2504	0					ENST00000360310.1																			1	Substitution - Missense(1)	p.V1537I(1)	endometrium(1)	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						c.(4609-4611)Gtc>Atc		bromodomain adjacent to zinc finger domain, 1A							129	114	119					14																	35222776		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35222776C>T	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"Zinc fingers, PHD-type"	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.4609G>A	14.37:g.35222776C>T	ENSP00000371859:p.Val1537Ile					BAZ1A_ENST00000358716.4_Missense_Mutation_p.V1505I|BAZ1A_ENST00000382422.2_Missense_Mutation_p.V1537I	p.V1537I	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	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)	27	5176	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		1537					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.4609G>A	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	c	7.666	0.685871	0.14973	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310	T;T;T	0.71461	-0.57;-0.57;-0.57	5.26	3.43	0.39272	.	0.252963	0.32836	N	0.005586	T	0.53498	0.1800	N	0.17082	0.46	0.19775	N	0.99996	B;B	0.12630	0.006;0.003	B;B	0.06405	0.002;0.001	T	0.37220	-0.9715	10	0.35671	T	0.21	.	12.6081	0.56535	0.0:0.78:0.0:0.22	.	1505;1537	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	I	1505;1537;1537	ENSP00000351555:V1505I;ENSP00000371859:V1537I;ENSP00000353458:V1537I	ENSP00000351555:V1505I	V	-	1	0	BAZ1A	34292527	0.040000	0.19996	0.116000	0.21606	0.230000	0.25150	0.191000	0.17076	0.238000	0.21222	-1.128000	0.01989	GTC		0.418	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			23	38	0	0	0	1	0	23	38					T	35222776	C	T	35222776	3	4	438	1	0	0	0	0	1	0	0	0	1329	536	19	1	65	1	BAZ1A	14	35222776	Missense_Mutation	SNP	C	TCGA-XK-AAJP-01A-11D-A41K-08		35222776	72126764	27	30282											
FNTB	2342	broad.mit.edu	37	chr14	65471020	65471020	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agttcttacaagttcaaccaCcttgtaccaaggtaagctgt	12	12	7	10	0	2	0	1	0	1	0	2	0	2	0	3	1	4	5	3	1	6	6			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr14:65471020C>G	ENST00000246166.2	+	2	432	c.198C>G	c.(196-198)caC>caG	p.H66Q	CHURC1-FNTB_ENST00000549987.1_Missense_Mutation_p.H101Q|FNTB_ENST00000447296.2_Missense_Mutation_p.H100Q|FNTB_ENST00000542227.1_Missense_Mutation_p.H20Q|RP11-840I19.5_ENST00000606934.1_RNA|FNTB_ENST00000555742.1_3'UTR	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	66					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGTTCAACCACCTTGTACCAA	0.453																																						ENST00000246166.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(196-198)caC>caG		farnesyltransferase, CAAX box, beta							197	188	191					14																	65471020		2203	4300	6503	SO:0001583	missense	2342							g.chr14:65471020C>G		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.198C>G	14.37:g.65471020C>G	ENSP00000246166:p.His66Gln					CHURC1-FNTB_ENST00000542227.1_Missense_Mutation_p.H20Q|FNTB_ENST00000555742.1_3'UTR|CHURC1-FNTB_ENST00000447296.2_Missense_Mutation_p.H100Q	p.H66Q	NM_002028.3	NP_002019.1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)	2	432	+								B2RDX6|B4E1A0	Missense_Mutation	SNP	ENST00000246166.2	37	c.198C>G	CCDS9769.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.72|12.72	2.021128|2.021128	0.35701|0.35701	.|.	.|.	ENSG00000125954;ENSG00000125954;ENSG00000125954;ENSG00000257365;ENSG00000257365|ENSG00000125954	ENST00000542227;ENST00000549987;ENST00000447296;ENST00000246166;ENST00000555372|ENST00000553743	T;T;T;T|.	0.41065|.	1.01;1.01;1.01;1.01|.	5.61|5.61	4.7|4.7	0.59300|0.59300	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);|.	0.044630|.	0.85682|.	D|.	0.000000|.	T|T	0.55784|0.55784	0.1942|0.1942	L|L	0.42686|0.42686	1.345|1.345	0.37389|0.37389	D|D	0.912383|0.912383	B;B;B|.	0.13594|.	0.002;0.008;0.001|.	B;B;B|.	0.04013|.	0.0;0.001;0.001|.	T|T	0.56353|0.56353	-0.7993|-0.7993	10|5	0.16896|.	T|.	0.51|.	-29.9888|-29.9888	9.316|9.316	0.37934|0.37934	0.0:0.8515:0.0:0.1485|0.0:0.8515:0.0:0.1485	.|.	20;100;66|.	B4E1A0;B4DL54;P49356|.	.;.;FNTB_HUMAN|.	Q|A	20;101;100;66;66|49	ENSP00000443140:H20Q;ENSP00000447121:H101Q;ENSP00000406393:H100Q;ENSP00000246166:H66Q|.	ENSP00000246166:H66Q|.	H|P	+|+	3|1	2|0	FNTB;AL139022.1|FNTB	64540773|64540773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	1.502000|1.502000	0.35704|0.35704	2.791000|2.791000	0.96007|0.96007	0.650000|0.650000	0.86243|0.86243	CAC|CCT		0.453	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		40	86	0	0	0	1	0	40	86					G	65471020	C	G	65471020	3	3	438	1	0	0	0	0	1	0	0	0	5978	506	18	5	204	5	FNTB	14	65471020	Missense_Mutation	SNP	C	TCGA-XK-AAJP-01A-11D-A41K-08	30248244	65471020	41878520	28	30283											
ATP10A	57194	broad.mit.edu	37	chr15	25958882	25958882	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccccttggtgtagacgttGatctcatcggtaagcgggtg	6	11	14	10	3	1	2	1	1	1	1	3	2	1	2	2	3	1	3	2	3	2	4			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr15:25958882G>A	ENST00000356865.6	-	10	2394	c.2283C>T	c.(2281-2283)atC>atT	p.I761I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	761					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGTAGACGTTGATCTCATCGG	0.622																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2281-2283)atC>atT		ATPase, class V, type 10A							68	64	65					15																	25958882		2203	4300	6503	SO:0001819	synonymous_variant	57194				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	g.chr15:25958882G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2283C>T	15.37:g.25958882G>A							p.I761I	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	2394	-		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)	761					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.2283C>T	CCDS32178.1																																																																																				0.622	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		11	24	0	0	0	1	0	11	24					A	25958882	G	A	25958882	2	1	438	1	0	0	0	0	0	0	0	1	1116	1280	45	3		3	ATP10A	15	25958882	Silent	SNP	G	TCGA-XK-AAJP-01A-11D-A41K-08		25958882	76572510	29	30284											
IGF1R	3480	broad.mit.edu	37	chr15	99251295	99251295	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaccaccatcaacaatgAgtacaactaccgctgctgga	15	6	8	12	1	1	2	1	1	0	1	1	4	1	3	3	1	5	3	3	1	6	2			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr15:99251295A>G	ENST00000268035.6	+	2	1210	c.599A>G	c.(598-600)gAg>gGg	p.E200G	IGF1R_ENST00000558762.1_Missense_Mutation_p.E200G	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	200					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			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(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	ATCAACAATGAGTACAACTAC	0.517																																						ENST00000268035.6																			0				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						c.(598-600)gAg>gGg		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						116	104	108					15																	99251295		2197	4297	6494	SO:0001583	missense	3480				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	g.chr15:99251295A>G	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.599A>G	15.37:g.99251295A>G	ENSP00000268035:p.Glu200Gly					IGF1R_ENST00000558762.1_Missense_Mutation_p.E200G	p.E200G	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	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)		2	1210	+	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)		200					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.599A>G	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.603956	0.46423	.	.	ENSG00000140443	ENST00000268035	D	0.97232	-4.3	5.01	5.01	0.66863	Furin-like cysteine-rich domain (1);	0.000000	0.51477	U	0.000086	D	0.94768	0.8311	L	0.45581	1.43	0.58432	D	0.999992	P;B	0.39940	0.696;0.003	B;B	0.37422	0.249;0.006	D	0.94955	0.8103	10	0.59425	D	0.04	.	14.1871	0.65612	1.0:0.0:0.0:0.0	.	200;200	C9J5X1;P08069	.;IGF1R_HUMAN	G	200	ENSP00000268035:E200G	ENSP00000268035:E200G	E	+	2	0	IGF1R	97068818	1.000000	0.71417	0.995000	0.50966	0.825000	0.46686	7.359000	0.79477	2.002000	0.58637	0.455000	0.32223	GAG		0.517	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		25	42	0	0	0	1	0	25	42					G	99251295	A	G	99251295	3	3	438	1	0	0	0	0	1	0	0	0	7571	304	11	4	605	4	IGF1R	15	99251295	Missense_Mutation	SNP	A	TCGA-XK-AAJP-01A-11D-A41K-08	73292413	99251295	3280097	30	30285											
LOC81691	81691	broad.mit.edu	37	chr16	20856421	20856421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggccctcaacattctcaCaggcaaggactggaagctga	12	6	11	12	0	2	1	2	1	1	0	3	3	2	3	1	4	2	3	1	4	3	1			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr16:20856421C>T	ENST00000261377.6	+	18	2191	c.1982C>T	c.(1981-1983)aCa>aTa	p.T661I	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.T630I|AC004381.6_ENST00000564274.1_Missense_Mutation_p.T661I	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					AACATTCTCACAGGCAAGGAC	0.532																																						ENST00000261377.6																			0											c.(1981-1983)aCa>aTa									72	68	69					16																	20856421		2201	4300	6501	SO:0001583	missense	0							g.chr16:20856421C>T																												ENST00000261377.6:c.1982C>T	16.37:g.20856421C>T	ENSP00000261377:p.Thr661Ile					AC004381.6_ENST00000564274.1_Missense_Mutation_p.T661I|AC004381.6_ENST00000348433.6_Missense_Mutation_p.T630I|ERI2_ENST00000564349.1_Intron	p.T661I	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					18	2191	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.1982C>T	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239518	0.58995	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.43688	0.94;3.34	5.53	-8.73	0.00841	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.837922	0.11144	N	0.594968	T	0.44953	0.1318	L	0.54323	1.7	0.09310	N	1	P;P	0.47962	0.903;0.716	P;B	0.53861	0.736;0.3	T	0.57183	-0.7855	10	0.72032	D	0.01	0.0103	12.669	0.56857	0.6312:0.1207:0.2482:0.0	.	630;661	Q96IC2-2;Q96IC2	.;REXON_HUMAN	I	630;661	ENSP00000261378:T630I;ENSP00000261377:T661I	ENSP00000261377:T661I	T	+	2	0	AC004381.6	20763922	0.000000	0.05858	0.012000	0.15200	0.944000	0.59088	-1.277000	0.02812	-1.577000	0.01650	0.561000	0.74099	ACA		0.532	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			20	29	0	0	0	1	0	20	29					T	20856421	C	T	20856421	3	4	438	1	0	0	0	0	1	0	0	0	8890	478	17	3	2048	3	LOC81691	16	20856421	Missense_Mutation	SNP	C	TCGA-XK-AAJP-01A-11D-A41K-08		20856421	69498332	31	30286											
ADCY7	113	broad.mit.edu	37	chr16	50341044	50341044	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcatcctgctcgtccatgtCctgctcatgcccaggtcagt	5	12	9	15	1	2	0	2	0	0	0	6	0	5	0	4	1	4	3	4	1	0	0			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr16:50341044C>T	ENST00000394697.2	+	15	2176	c.1836C>T	c.(1834-1836)gtC>gtT	p.V612V	ADCY7_ENST00000538642.1_Silent_p.V612V|ADCY7_ENST00000254235.3_Silent_p.V612V|ADCY7_ENST00000566433.2_Silent_p.V612V|ADCY7_ENST00000537579.1_3'UTR			P51828	ADCY7_HUMAN	adenylate cyclase 7	612					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TCGTCCATGTCCTGCTCATGC	0.647																																						ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(1834-1836)gtC>gtT		adenylate cyclase 7	Bromocriptine(DB01200)						52	45	48					16																	50341044		2198	4300	6498	SO:0001819	synonymous_variant	113				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	g.chr16:50341044C>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1836C>T	16.37:g.50341044C>T						ADCY7_ENST00000566433.2_Silent_p.V612V|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000538642.1_Silent_p.V612V|ADCY7_ENST00000254235.3_Silent_p.V612V	p.V612V			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	15	2176	+		all_cancers(37;0.0127)	612					A0AVA6	Silent	SNP	ENST00000394697.2	37	c.1836C>T	CCDS10741.1																																																																																				0.647	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			3	12	0	0	0	1	0	3	12					T	50341044	C	T	50341044	2	4	438	1	0	0	0	0	0	0	0	1	299	842	30	3		3	ADCY7	16	50341044	Silent	SNP	C	TCGA-XK-AAJP-01A-11D-A41K-08	29484623	50341044	40013709	32	30287											
ZMYND15	84225	broad.mit.edu	37	chr17	4648068	4648068	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggcccaagcctgacctggTtattggtaaaagcctgggtc	8	9	14	10	0	0	1	0	1	0	0	1	1	0	1	4	5	2	2	4	5	4	3			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr17:4648068T>C	ENST00000433935.1	+	11	1889	c.1832T>C	c.(1831-1833)gTt>gCt	p.V611A	ZMYND15_ENST00000573751.2_Missense_Mutation_p.V611A|ZMYND15_ENST00000592813.1_Missense_Mutation_p.V572A|ZMYND15_ENST00000269289.6_Missense_Mutation_p.V572A	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	611					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CCTGACCTGGTTATTGGTAAA	0.602																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(1831-1833)gTt>gCt		zinc finger, MYND-type containing 15							59	63	61					17																	4648068		2203	4300	6503	SO:0001583	missense	84225						zinc ion binding	g.chr17:4648068T>C	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"Zinc fingers, MYND-type"	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1832T>C	17.37:g.4648068T>C	ENSP00000391742:p.Val611Ala					ZMYND15_ENST00000573751.2_Missense_Mutation_p.V611A|ZMYND15_ENST00000269289.6_Missense_Mutation_p.V572A|ZMYND15_ENST00000592813.1_Missense_Mutation_p.V572A	p.V611A	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN			11	1889	+			572					B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	c.1832T>C	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.734992	0.69189	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.60171	0.23;0.21	5.18	4.11	0.48088	.	0.110839	0.38778	N	0.001579	T	0.65375	0.2685	L	0.50333	1.59	0.29520	N	0.853577	D;D	0.69078	0.997;0.983	P;D	0.64877	0.907;0.93	T	0.62300	-0.6883	10	0.51188	T	0.08	-13.4405	9.0099	0.36135	0.0:0.0872:0.0:0.9128	.	611;572	B4DXY5;Q9H091	.;ZMY15_HUMAN	A	611;572	ENSP00000391742:V611A;ENSP00000269289:V572A	ENSP00000269289:V572A	V	+	2	0	ZMYND15	4594817	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	4.901000	0.63259	0.997000	0.38969	0.460000	0.39030	GTT		0.602	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		16	19	0	0	0	1	0	16	19					C	4648068	T	C	4648068	3	2	438	1	0	0	0	0	1	0	0	0	17705	1725	60	4	1870	4	ZMYND15	17	4648068	Missense_Mutation	SNP	T	TCGA-XK-AAJP-01A-11D-A41K-08		4648068	76547142	33	30288											
KIF2B	84643	broad.mit.edu	37	chr17	51900492	51900492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagagggcatctacgtggCgatccagcgcagtgacaagc	11	5	13	12	3	1	2	0	1	1	1	2	3	2	2	2	2	3	2	2	2	3	1			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr17:51900492C>T	ENST00000268919.4	+	1	254	c.98C>T	c.(97-99)gCg>gTg	p.A33V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	33					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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						ATCTACGTGGCGATCCAGCGC	0.552																																						ENST00000268919.4																			0				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						c.(97-99)gCg>gTg		kinesin family member 2B							127	105	112					17																	51900492		2203	4300	6503	SO:0001583	missense	84643				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	g.chr17:51900492C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.98C>T	17.37:g.51900492C>T	ENSP00000268919:p.Ala33Val						p.A33V	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	254	+			33					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.98C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	5.396	0.258268	0.10239	.	.	ENSG00000141200	ENST00000268919	T	0.74002	-0.8	4.96	-0.795	0.10915	.	0.501568	0.16531	N	0.210347	T	0.50599	0.1625	L	0.39898	1.24	0.25215	N	0.98994	P	0.44044	0.825	B	0.34489	0.184	T	0.44877	-0.9299	10	0.25751	T	0.34	.	0.765	0.01013	0.2039:0.3953:0.1365:0.2643	.	33	Q8N4N8	KIF2B_HUMAN	V	33	ENSP00000268919:A33V	ENSP00000268919:A33V	A	+	2	0	KIF2B	49255491	0.988000	0.35896	0.021000	0.16686	0.016000	0.09150	2.721000	0.47260	0.091000	0.17302	-0.137000	0.14449	GCG		0.552	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		11	13	0	0	0	1	0	11	13					T	51900492	C	T	51900492	3	4	438	1	0	0	0	0	1	0	0	0	8298	768	27	1	100	1	KIF2B	17	51900492	Missense_Mutation	SNP	C	TCGA-XK-AAJP-01A-11D-A41K-08	47252424	51900492	29294718	34	30289											
LAMA1	284217	broad.mit.edu	37	chr18	7049115	7049115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccagttctttaggttcccGgtggctaagggtcatgagat	8	13	12	8	1	2	1	1	1	1	1	4	2	4	1	2	4	0	3	2	4	2	5	rs200626690		TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr18:7049115G>A	ENST00000389658.3	-	5	823	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	244	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			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)				TTAGGTTCCCGGTGGCTAAGG	0.428																																						ENST00000389658.3																			0				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						c.(730-732)Cgg>Tgg		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	TRP/ARG	0,4406		0,0,2203	123	105	111		730	5	1	18		111	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LAMA1	NM_005559.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	244/3076	7049115	1,13005	2203	4300	6503	SO:0001583	missense	284217				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	g.chr18:7049115G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.730C>T	18.37:g.7049115G>A	ENSP00000374309:p.Arg244Trp						p.R244W	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			5	823	-		Colorectal(10;0.172)	244			Laminin N-terminal.			Missense_Mutation	SNP	ENST00000389658.3	37	c.730C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685069	0.88639	0.0	1.16E-4	ENSG00000101680	ENST00000389658	T	0.20332	2.08	5.86	4.98	0.66077	Laminin, N-terminal (3);	0.150236	0.44097	D	0.000500	T	0.47746	0.1462	M	0.77486	2.375	0.44660	D	0.997646	D	0.89917	1.0	D	0.70716	0.97	T	0.53830	-0.8383	10	0.87932	D	0	.	15.2937	0.73885	0.0:0.0:0.7455:0.2545	.	244	P25391	LAMA1_HUMAN	W	244	ENSP00000374309:R244W	ENSP00000374309:R244W	R	-	1	2	LAMA1	7039115	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	3.069000	0.50026	1.457000	0.47850	0.563000	0.77884	CGG		0.428	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		30	57	0	0	0	1	0	30	57					A	7049115	G	A	7049115	3	1	438	1	0	0	0	0	1	0	0	0	8605	1115	39	2	8733	2	LAMA1	18	7049115	Missense_Mutation	SNP	G	TCGA-XK-AAJP-01A-11D-A41K-08		7049115	71028133	35	30290											
ZNF521	25925	broad.mit.edu	37	chr18	22804358	22804358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcattggtgatacttggggcGttttcaactgtgtgctgttg	5	16	14	6	1	1	1	1	1	0	0	1	1	1	1	0	3	3	4	0	3	2	6	rs190029761		TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr18:22804358G>A	ENST00000361524.3	-	4	3672	c.3524C>T	c.(3523-3525)aCg>aTg	p.T1175M	ZNF521_ENST00000584787.1_Missense_Mutation_p.T955M|ZNF521_ENST00000538137.2_Missense_Mutation_p.T1175M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1175					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.T1175M(1)		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)					TACTTGGGGCGTTTTCAACTG	0.483			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)	p.T1175M(1)	large_intestine(1)	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						c.(3523-3525)aCg>aTg		zinc finger protein 521		G	MET/THR	0,4406		0,0,2203	154	146	149		3524	6	1	18		149	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF521	NM_015461.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1175/1312	22804358	1,13005	2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804358G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3524C>T	18.37:g.22804358G>A	ENSP00000354794:p.Thr1175Met					ZNF521_ENST00000538137.2_Missense_Mutation_p.T1175M|ZNF521_ENST00000584787.1_Missense_Mutation_p.T955M	p.T1175M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3672	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1175					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3524C>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.338239	0.24253	0.0	1.16E-4	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09255	3.0;3.03	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	N	0.14661	0.345	0.39008	D	0.959485	D	0.63880	0.993	P	0.50708	0.648	T	0.06445	-1.0826	10	0.49607	T	0.09	-22.7784	13.6254	0.62161	0.0702:0.0:0.9297:0.0	.	1175	Q96K83	ZN521_HUMAN	M	1175;1209;1175	ENSP00000354794:T1175M;ENSP00000382352:T1175M	ENSP00000354794:T1175M	T	-	2	0	ZNF521	21058356	1.000000	0.71417	0.975000	0.42487	0.932000	0.56968	7.605000	0.82844	2.835000	0.97688	0.650000	0.86243	ACG		0.483	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		33	54	0	0	0	1	0	33	54					A	22804358	G	A	22804358	3	1	438	1	0	0	0	0	1	0	0	0	17962	1145	40	1	431	1	ZNF521	18	22804358	Missense_Mutation	SNP	G	TCGA-XK-AAJP-01A-11D-A41K-08	15755243	22804358	55272890	36	30291											
DNM2	1785	broad.mit.edu	37	chr19	10897283	10897283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgctgccggccctacgtaGcaaactacagagccagctgc	9	6	11	15	3	0	1	0	0	0	1	1	1	0	1	3	1	8	4	3	1	4	3			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr19:10897283G>A	ENST00000355667.6	+	7	973	c.893G>A	c.(892-894)aGc>aAc	p.S298N	DNM2_ENST00000408974.4_Missense_Mutation_p.S298N|DNM2_ENST00000389253.4_Missense_Mutation_p.S298N|DNM2_ENST00000359692.6_Missense_Mutation_p.S298N|DNM2_ENST00000585892.1_Missense_Mutation_p.S298N|DNM2_ENST00000314646.5_Missense_Mutation_p.S298N	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	298					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			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)			GCCCTACGTAGCAAACTACAG	0.597			"F, N, Splice, Mis, O"		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"F, N, Splice, Mis, O"	dynamin 2			L			ETP ALL		0				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						c.(892-894)aGc>aAc		dynamin 2							113	99	104					19																	10897283		2203	4300	6503	SO:0001583	missense	1785				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	g.chr19:10897283G>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.893G>A	19.37:g.10897283G>A	ENSP00000347890:p.Ser298Asn					DNM2_ENST00000359692.6_Missense_Mutation_p.S298N|DNM2_ENST00000389253.4_Missense_Mutation_p.S298N|DNM2_ENST00000408974.4_Missense_Mutation_p.S298N|DNM2_ENST00000585892.1_Missense_Mutation_p.S298N|DNM2_ENST00000355667.6_Missense_Mutation_p.S298N	p.S298N			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		7	1057	+			298					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.893G>A	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	6.172	0.399929	0.11696	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71	5.03	5.03	0.67393	Dynamin central domain (1);	0.040918	0.85682	D	0.000000	T	0.51787	0.1695	N	0.17764	0.52	0.49687	D	0.999813	B;B;B;B;B	0.16802	0.006;0.002;0.004;0.002;0.019	B;B;B;B;B	0.19148	0.006;0.006;0.024;0.009;0.023	T	0.46541	-0.9184	10	0.11794	T	0.64	-1.0442	10.7539	0.46225	0.0886:0.0:0.9114:0.0	.	31;298;298;298;298	B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;DYN2_HUMAN;.	N	287;298;298;298;298;298	ENSP00000386192:S298N;ENSP00000347890:S298N;ENSP00000352721:S298N;ENSP00000373905:S298N;ENSP00000313164:S298N	ENSP00000313164:S298N	S	+	2	0	DNM2	10758283	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.786000	0.55431	2.325000	0.78763	0.655000	0.94253	AGC		0.597	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		12	17	0	0	0	1	0	12	17					A	10897283	G	A	10897283	3	1	438	1	0	0	0	0	1	0	0	0	4672	971	34	3	919	3	DNM2	19	10897283	Missense_Mutation	SNP	G	TCGA-XK-AAJP-01A-11D-A41K-08		10897283	48231700	37	30292											
ZNF709	163051	broad.mit.edu	37	chr19	12575380	12575380	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgaaggctttaccacaCtgtttacattcatagggttt	11	14	7	9	0	1	1	1	1	0	0	1	1	1	1	1	2	3	3	1	2	5	7			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1354-1356)caG>caA		zinc finger protein 709							102	108	106					19																	12575380		2203	4296	6499	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575380C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1356G>A	19.37:g.12575380C>T						ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron	p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1527	-			452					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.1356G>A	CCDS42504.1																																																																																				0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		4	197	0	0	0	1	0	4	197					T	12575380	C	T	12575380	2	4	438	1	0	0	0	0	0	0	0	1	18110	564	20	3		3	ZNF709	19	12575380	Silent	SNP	C	TCGA-XK-AAJP-01A-11D-A41K-08	1678097	12575380	46553603	38	30293											
ZNF507	22847	broad.mit.edu	37	chr19	32851518	32851518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccataactctgataagcCgtacaggtaagtgttatgat	14	12	8	7	1	1	2	0	2	1	0	2	2	2	2	2	1	3	3	2	1	6	5			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr19:32851518C>T	ENST00000311921.4	+	4	2546	c.2354C>T	c.(2353-2355)cCg>cTg	p.P785L	ZNF507_ENST00000355898.5_Missense_Mutation_p.P785L|ZNF507_ENST00000544431.1_Missense_Mutation_p.P785L	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	785					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)					TCTGATAAGCCGTACAGGTAA	0.289																																						ENST00000311921.3																			0				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						c.(2353-2355)cCg>cTg		zinc finger protein 507							117	111	113					19																	32851518		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32851518C>T	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.2354C>T	19.37:g.32851518C>T	ENSP00000312277:p.Pro785Leu					ZNF507_ENST00000544431.1_Missense_Mutation_p.P785L|ZNF507_ENST00000355898.5_Missense_Mutation_p.P785L	p.P785L	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			4	2546	+	Esophageal squamous(110;0.162)		785					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.2354C>T	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977761	0.92982	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.33654	1.66;1.66;1.4	5.71	5.71	0.89125	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70761	-0.4784	10	0.66056	D	0.02	.	19.8773	0.96884	0.0:1.0:0.0:0.0	.	785	Q8TCN5	ZN507_HUMAN	L	785	ENSP00000348162:P785L;ENSP00000312277:P785L;ENSP00000441549:P785L	ENSP00000312277:P785L	P	+	2	0	ZNF507	37543358	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	7.383000	0.79741	2.686000	0.91538	0.650000	0.86243	CCG		0.289	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		13	25	0	0	0	1	0	13	25					T	32851518	C	T	32851518	3	4	438	1	0	0	0	0	1	0	0	0	17950	652	23	2	2364	2	ZNF507	19	32851518	Missense_Mutation	SNP	C	TCGA-XK-AAJP-01A-11D-A41K-08	20276138	32851518	26277465	39	30294											
RYR1	6261	broad.mit.edu	37	chr19	39019295	39019295	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcatggatcctgactgAagaccacagttttgaggacc	10	9	12	10	0	0	4	0	3	0	1	1	6	1	6	3	3	1	3	3	3	1	2			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr19:39019295A>G	ENST00000359596.3	+	75	10994	c.10994A>G	c.(10993-10995)gAa>gGa	p.E3665G	RYR1_ENST00000360985.3_Missense_Mutation_p.E3665G|RYR1_ENST00000355481.4_Missense_Mutation_p.E3660G|AC067969.1_ENST00000597015.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3665					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			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)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ATCCTGACTGAAGACCACAGT	0.627																																						ENST00000355481.4																			0				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						c.(10978-10980)gAa>gGa		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						125	103	111					19																	39019295		2203	4300	6503	SO:0001583	missense	6261				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	g.chr19:39019295A>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10994A>G	19.37:g.39019295A>G	ENSP00000352608:p.Glu3665Gly					RYR1_ENST00000360985.3_Missense_Mutation_p.E3665G|RYR1_ENST00000359596.3_Missense_Mutation_p.E3665G	p.E3660G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		74	11110	+	all_cancers(60;7.91e-06)		3665					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.10979A>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461532	0.43736	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.98221	-4.78;-4.8;-4.78	5.43	4.42	0.53409	.	0.000000	0.64402	U	0.000002	D	0.98629	0.9541	M	0.86651	2.83	0.50171	D	0.999851	D;D;D	0.63880	0.993;0.986;0.976	D;P;P	0.63033	0.91;0.797;0.631	D	0.98686	1.0694	10	0.51188	T	0.08	.	9.8473	0.41034	0.918:0.0:0.082:0.0	.	3665;3660;3665	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	G	3665;3660;3665;585	ENSP00000352608:E3665G;ENSP00000347667:E3660G;ENSP00000354254:E3665G	ENSP00000347667:E3660G	E	+	2	0	RYR1	43711135	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	6.038000	0.70964	2.074000	0.62210	0.459000	0.35465	GAA		0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			25	41	0	0	0	1	0	25	41					G	39019295	A	G	39019295	3	3	438	1	0	0	0	0	1	0	0	0	13768	246	9	4	11292	4	RYR1	19	39019295	Missense_Mutation	SNP	A	TCGA-XK-AAJP-01A-11D-A41K-08	6167777	39019295	20109688	40	30295											
ZIM3	114026	broad.mit.edu	37	chr19	57646680	57646680	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggatttctgggaaaaggccTtctcacatatgctacattta	11	14	8	8	0	2	0	1	0	2	0	3	2	2	2	1	3	2	1	1	3	5	6			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr19:57646680T>A	ENST00000269834.1	-	5	1410	c.1025A>T	c.(1024-1026)aAg>aTg	p.K342M	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		GGAAAAGGCCTTCTCACATAT	0.408																																						ENST00000269834.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(1024-1026)aAg>aTg		zinc finger, imprinted 3							175	169	171					19																	57646680		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646680T>A	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"Zinc fingers, C2H2-type", "-"	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1025A>T	19.37:g.57646680T>A	ENSP00000269834:p.Lys342Met						p.K342M	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1410	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	342					Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.1025A>T	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	T	13.02	2.111079	0.37242	.	.	ENSG00000141946	ENST00000269834	T	0.08193	3.12	2.71	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28499	0.0705	M	0.82193	2.58	0.23943	N	0.996392	D	0.89917	1.0	D	0.91635	0.999	T	0.02553	-1.1142	9	0.87932	D	0	.	8.871	0.35316	0.0:0.0:0.0:1.0	.	342	Q96PE6	ZIM3_HUMAN	M	342	ENSP00000269834:K342M	ENSP00000269834:K342M	K	-	2	0	ZIM3	62338492	0.918000	0.31147	0.951000	0.38953	0.579000	0.36224	2.020000	0.41010	1.237000	0.43756	0.260000	0.18958	AAG		0.408	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			59	88	0	0	0	1	0	59	88					A	57646680	T	A	57646680	3	1	438	1	0	0	0	0	1	0	0	0	17682	1609	56	5	397	5	ZIM3	19	57646680	Missense_Mutation	SNP	T	TCGA-XK-AAJP-01A-11D-A41K-08	18627385	57646680	1482303	41	30296											
LIPI	149998	broad.mit.edu	37	chr21	15561724	15561724	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttagctgagagaattcaagGcatggtcttttattatctga	11	15	9	6	0	3	3	1	2	2	1	3	4	3	3	0	2	1	2	0	2	5	5			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr21:15561724G>T	ENST00000536861.1	-	2	62	c.63C>A	c.(61-63)tgC>tgA	p.C21*	LIPI_ENST00000344577.2_Nonsense_Mutation_p.C42*			Q6XZB0	LIPI_HUMAN	lipase, member I	21					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			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)		AGAATTCAAGGCATGGTCTTT	0.338																																						ENST00000344577.2																			0				endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54						c.(124-126)tgC>tgA		lipase, member I							76	81	79					21																	15561724		2201	4298	6499	SO:0001587	stop_gained	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15561724G>T	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.63C>A	21.37:g.15561724G>T	ENSP00000440381:p.Cys21*					LIPI_ENST00000536861.1_Nonsense_Mutation_p.C21*	p.C42*	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	2	151	-			21					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Nonsense_Mutation	SNP	ENST00000536861.1	37	c.126C>A		.	.	.	.	.	.	.	.	.	.	G	23.8	4.463008	0.84425	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	.	.	.	5.3	2.28	0.28536	.	430.513000	0.01749	U	0.029834	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4916	0.33104	0.3641:0.0:0.6359:0.0	.	.	.	.	X	42;21	.	ENSP00000343331:C42X	C	-	3	2	LIPI	14483595	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	0.810000	0.27183	0.631000	0.30412	0.655000	0.94253	TGC		0.338	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		16	50	1	0	4.96729e-08	1	5.21986e-08	16	50					T	15561724	G	T	15561724	4	4	438	1	0	0	0	0	0	1	0	0	8825	1195	42	5	1355	5	LIPI	21	15561724	Nonsense_Mutation	SNP	G	TCGA-XK-AAJP-01A-11D-A41K-08		15561724	32568171	42	30297											
CSDC2	27254	broad.mit.edu	37	chr22	41970869	41970869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccccccacactccccacgaGacgtggtctggccaggtcgt	6	6	11	18	3	1	1	0	0	1	1	3	2	2	1	6	3	0	0	6	3	0	0			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr22:41970869G>C	ENST00000306149.7	+	4	976	c.432G>C	c.(430-432)gaG>gaC	p.E144D		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	144					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			prostate(2)|upper_aerodigestive_tract(1)	3						CTCCCCACGAGACGTGGTCTG	0.652																																					NSCLC(181;294 2110 12667 14717 31090)	ENST00000306149.7																			0				prostate(2)|upper_aerodigestive_tract(1)	3						c.(430-432)gaG>gaC		cold shock domain containing C2, RNA binding							55	41	46					22																	41970869		2201	4298	6499	SO:0001583	missense	27254				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding	g.chr22:41970869G>C	AL834417	CCDS14019.1	22q13.2	2006-02-24			ENSG00000172346	ENSG00000172346			30359	protein-coding gene	gene with protein product						8573167, 12767259	Standard	NM_014460		Approved	PIPPin	uc003bak.1	Q9Y534	OTTHUMG00000150967	ENST00000306149.7:c.432G>C	22.37:g.41970869G>C	ENSP00000302485:p.Glu144Asp						p.E144D	NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN			4	976	+			144					Q8ND37	Missense_Mutation	SNP	ENST00000306149.7	37	c.432G>C	CCDS14019.1	.	.	.	.	.	.	.	.	.	.	g	29.2	4.986549	0.93106	.	.	ENSG00000172346	ENST00000306149	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.77412	0.4126	M	0.87456	2.885	0.80722	D	1	P	0.41188	0.741	P	0.53809	0.735	T	0.80701	-0.1265	9	0.72032	D	0.01	.	12.9045	0.58143	0.0776:0.0:0.9224:0.0	.	144	Q9Y534	CSDC2_HUMAN	D	144	.	ENSP00000302485:E144D	E	+	3	2	CSDC2	40300815	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.564000	0.82326	2.604000	0.88044	0.651000	0.88453	GAG		0.652	CSDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320689.1	NM_014460		5	10	0	0	0	1	0	5	10					C	41970869	G	C	41970869	3	2	438	1	0	0	0	0	1	0	0	0	3928	933	33	5	442	5	CSDC2	22	41970869	Missense_Mutation	SNP	G	TCGA-XK-AAJP-01A-11D-A41K-08		41970869	9333697	43	30298											
DFFA	1676	broad.mit.edu	37	chr1	10523512	10523512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctttgacaagaggctgcCctctttctccaaagcctgga	8	11	9	13	0	2	2	0	1	2	1	3	3	2	3	3	2	3	2	3	2	2	2	rs200565656		TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr1:10523512C>T	ENST00000377038.3	-	4	674	c.607G>A	c.(607-609)Ggc>Agc	p.G203S	DFFA_ENST00000377036.2_Missense_Mutation_p.G203S	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	203					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	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)		AAGAGGCTGCCCTCTTTCTCC	0.557													C|||	1	0.000199681	0	0	5008	,	,		18281	0		0.001	False		,,,				2504	0					ENST00000377038.3																			0				large_intestine(3)|lung(2)	5						c.(607-609)Ggc>Agc		DNA fragmentation factor, 45kDa, alpha polypeptide							62	62	62					1																	10523512		2203	4300	6503	SO:0001583	missense	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10523512C>T	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"DNA fragmentation factor, 45 kD, alpha subunit"	601882	"DNA fragmentation factor, 45 kD, alpha polypeptide"			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.607G>A	1.37:g.10523512C>T	ENSP00000366237:p.Gly203Ser					DFFA_ENST00000377036.2_Missense_Mutation_p.G203S	p.G203S	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN		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)	4	674	-	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)	203					Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	c.607G>A	CCDS118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	22.5	4.295057	0.81025	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.01	4.1	0.47936	DNA fragmentation factor 45kDa, C-terminal (2);	0.403093	0.30293	N	0.009942	T	0.65428	0.2690	M	0.64997	1.995	0.39666	D	0.97068	P;D	0.56746	0.897;0.977	P;P	0.54889	0.518;0.763	T	0.69665	-0.5084	9	0.62326	D	0.03	-24.5801	11.6847	0.51479	0.0:0.9171:0.0:0.0829	.	203;203	O00273-2;O00273	.;DFFA_HUMAN	S	203	.	ENSP00000366235:G203S	G	-	1	0	DFFA	10446099	0.945000	0.32115	0.958000	0.39756	0.971000	0.66376	2.147000	0.42226	1.104000	0.41587	0.650000	0.86243	GGC		0.557	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401		15	59	0	0	0	1	0	15	59					T	10523512	C	T	10523512	3	4	439	1	0	0	0	0	1	0	0	0	4452	623	22	3	424	3	DFFA	1	10523512	Missense_Mutation	SNP	C	TCGA-XK-AAJR-01A-11D-A41K-08		10523512	238727109	1	30299											
USP48	84196	broad.mit.edu	37	chr1	22048218	22048218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttcttcagacgcaatatgCgacaacgttctactacacat	12	11	7	11	3	3	1	1	0	2	1	3	2	3	1	0	1	4	3	0	1	5	6			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr1:22048218C>T	ENST00000308271.9	-	13	2336	c.1688G>A	c.(1687-1689)cGc>cAc	p.R563H	USP48_ENST00000374732.3_Missense_Mutation_p.R102H|USP48_ENST00000529637.1_Missense_Mutation_p.R562H|USP48_ENST00000400301.1_Missense_Mutation_p.R563H	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	563					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.R563H(1)		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)		ACGCAATATGCGACAACGTTC	0.363																																						ENST00000308271.9																			1	Substitution - Missense(1)	p.R563H(1)	endometrium(1)	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						c.(1687-1689)cGc>cAc		ubiquitin specific peptidase 48							87	85	86					1																	22048218		2203	4300	6503	SO:0001583	missense	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22048218C>T	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1688G>A	1.37:g.22048218C>T	ENSP00000309262:p.Arg563His					USP48_ENST00000374732.3_Missense_Mutation_p.R102H|USP48_ENST00000400301.1_Missense_Mutation_p.R563H|USP48_ENST00000529637.1_Missense_Mutation_p.R562H	p.R563H	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		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)	13	2336	-		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)	563					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	c.1688G>A	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590410	0.86851	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.62672	0.2447	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.998;0.976	D;P;D;D;P;P	0.80764	0.994;0.793;0.931;0.967;0.854;0.565	T	0.63519	-0.6619	10	0.62326	D	0.03	.	18.3262	0.90255	0.0:1.0:0.0:0.0	.	562;563;563;563;563;102	B7ZKS7;B7ZKS3;Q86UV5-3;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;.;UBP48_HUMAN;.	H	563;563;102;562	ENSP00000383157:R563H;ENSP00000309262:R563H;ENSP00000363864:R102H;ENSP00000431949:R562H	ENSP00000309262:R563H	R	-	2	0	USP48	21920805	1.000000	0.71417	0.922000	0.36590	0.697000	0.40408	6.899000	0.75682	2.585000	0.87301	0.650000	0.86243	CGC		0.363	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		6	57	0	0	0	1	0	6	57					T	22048218	C	T	22048218	3	4	439	1	0	0	0	0	1	0	0	0	17076	768	27	1	1479	1	USP48	1	22048218	Missense_Mutation	SNP	C	TCGA-XK-AAJR-01A-11D-A41K-08	11524706	22048218	227202403	2	30300											
TIE1	7075	broad.mit.edu	37	chr1	43783268	43783268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgaccatcgtgactttgCgggagaactggaagttctgt	11	11	12	7	2	1	3	0	2	1	1	2	5	1	4	1	2	2	1	1	2	3	2			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr1:43783268C>T	ENST00000372476.3	+	16	2733	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	TIE1_ENST00000433781.2_Missense_Mutation_p.A530V|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	885	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			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)				CGTGACTTTGCGGGAGAACTG	0.502																																						ENST00000372476.3																			0				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						c.(2653-2655)gCg>gTg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							165	180	175					1																	43783268		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43783268C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2654C>T	1.37:g.43783268C>T	ENSP00000361554:p.Ala885Val					TIE1_ENST00000433781.2_Missense_Mutation_p.A530V|TIE1_ENST00000473014.1_3'UTR	p.A885V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			16	2733	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	885			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2654C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120241	0.77323	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.82167	-1.58;-1.58	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39985	N	0.001216	T	0.67562	0.2906	L	0.28115	0.83	0.80722	D	1	D;P;D	0.58268	0.982;0.908;0.982	B;B;B	0.32928	0.155;0.055;0.155	T	0.72357	-0.4318	10	0.02654	T	1	.	19.7383	0.96217	0.0:1.0:0.0:0.0	.	840;530;885	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	V	885;288;168;530	ENSP00000361554:A885V;ENSP00000411728:A530V	ENSP00000361553:A288V	A	+	2	0	TIE1	43555855	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.818000	0.86416	2.675000	0.91044	0.655000	0.94253	GCG		0.502	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		6	201	0	0	0	1	0	6	201					T	43783268	C	T	43783268	3	4	439	1	0	0	0	0	1	0	0	0	15890	768	27	1	2716	1	TIE1	1	43783268	Missense_Mutation	SNP	C	TCGA-XK-AAJR-01A-11D-A41K-08	21735050	43783268	205467353	3	30301											
FMO1	2326	broad.mit.edu	37	chr1	171250040	171250040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgttgagaaattccctccCaaccccaattgtgacttggt	10	12	7	12	0	0	2	0	2	0	1	2	3	2	2	4	1	1	1	4	1	3	4			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr1:171250040C>T	ENST00000354841.4	+	5	874	c.743C>T	c.(742-744)cCa>cTa	p.P248L	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.P248L|FMO1_ENST00000402921.2_Missense_Mutation_p.P185L	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	248					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	AATTCCCTCCCAACCCCAATT	0.463																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(742-744)cCa>cTa		flavin containing monooxygenase 1							107	99	102					1																	171250040		2203	4300	6503	SO:0001583	missense	2326				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	g.chr1:171250040C>T	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.743C>T	1.37:g.171250040C>T	ENSP00000346901:p.Pro248Leu					FMO1_ENST00000367750.3_Missense_Mutation_p.P248L|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.P185L	p.P248L			Q01740	FMO1_HUMAN			5	874	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		248					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.743C>T	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136929	0.77775	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.59224	0.28;0.28;0.28	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.84088	0.5395	H	0.97659	4.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;1.0	D	0.88316	0.2959	10	0.66056	D	0.02	-10.527	19.3997	0.94623	0.0:1.0:0.0:0.0	.	185;248;248	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	L	248;185;248	ENSP00000356724:P248L;ENSP00000385543:P185L;ENSP00000346901:P248L	ENSP00000346901:P248L	P	+	2	0	FMO1	169516664	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	3.554000	0.53720	2.871000	0.98454	0.655000	0.94253	CCA		0.463	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		5	67	0	0	0	1	0	5	67					T	171250040	C	T	171250040	3	4	439	1	0	0	0	0	1	0	0	0	5954	594	21	3	761	3	FMO1	1	171250040	Missense_Mutation	SNP	C	TCGA-XK-AAJR-01A-11D-A41K-08	127466772	171250040	78000581	4	30302											
OTOF	9381	broad.mit.edu	37	chr2	26705329	26705329	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagtgggtgccgatggcCacgtcgttgaccttgtccga	7	10	14	10	4	0	2	0	2	0	0	2	4	1	2	4	2	1	1	4	2	1	2			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr2:26705329C>A	ENST00000272371.2	-	14	1650	c.1524G>T	c.(1522-1524)gtG>gtT	p.V508V	OTOF_ENST00000403946.3_Silent_p.V508V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	508	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			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)					TGCCGATGGCCACGTCGTTGA	0.587																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				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						c.(1522-1524)gtG>gtT		otoferlin							108	99	102					2																	26705329		2203	4299	6502	SO:0001819	synonymous_variant	9381				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	g.chr2:26705329C>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1524G>T	2.37:g.26705329C>A						OTOF_ENST00000403946.3_Silent_p.V508V	p.V508V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			14	1650	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		508			C2 2.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.1524G>T	CCDS1725.1																																																																																				0.587	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			5	105	1	0	1.024e-07	1	1.1264e-07	5	105					A	26705329	C	A	26705329	2	1	439	1	0	0	0	0	0	0	0	1	11303	581	21	5		5	OTOF	2	26705329	Silent	SNP	C	TCGA-XK-AAJR-01A-11D-A41K-08		26705329	216494044	5	30303											
CCDC150	284992	broad.mit.edu	37	chr2	197521710	197521710	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagatcgactgaatgcaatAcaggaagagcattctaagga	18	7	10	6	1	1	3	0	1	1	2	2	6	1	5	0	2	3	2	0	2	6	3			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr2:197521710A>G	ENST00000389175.4	+	4	561	c.426A>G	c.(424-426)atA>atG	p.I142M	CCDC150_ENST00000472405.2_Missense_Mutation_p.I39M|CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	142										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TGAATGCAATACAGGAAGAGC	0.453																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(424-426)atA>atG		coiled-coil domain containing 150							63	62	62					2																	197521710		1942	4137	6079	SO:0001583	missense	284992							g.chr2:197521710A>G		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.426A>G	2.37:g.197521710A>G	ENSP00000373827:p.Ile142Met					CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_Missense_Mutation_p.I39M|CCDC150_ENST00000423093.2_Intron	p.I142M	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			4	561	+			142					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.426A>G	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.376387	0.24857	.	.	ENSG00000144395	ENST00000389175;ENST00000536389;ENST00000472405	T;T	0.29655	1.56;1.56	4.45	0.399	0.16325	.	0.276325	0.29587	N	0.011731	T	0.40670	0.1126	M	0.63428	1.95	0.80722	D	1	D;P	0.59767	0.986;0.899	P;P	0.62560	0.904;0.667	T	0.16129	-1.0413	10	0.45353	T	0.12	-7.629	5.0018	0.14268	0.3763:0.3166:0.0:0.3071	.	142;142	Q8NCX0;F5H6M2	CC150_HUMAN;.	M	142;142;39	ENSP00000373827:I142M;ENSP00000441149:I39M	ENSP00000373827:I142M	I	+	3	3	CCDC150	197229955	0.006000	0.16342	0.951000	0.38953	0.337000	0.28794	-1.242000	0.02908	-0.008000	0.14320	-0.316000	0.08728	ATA		0.453	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		7	14	0	0	0	1	0	7	14					G	197521710	A	G	197521710	3	3	439	1	0	0	0	0	1	0	0	0	2785	381	14	4	440	4	CCDC150	2	197521710	Missense_Mutation	SNP	A	TCGA-XK-AAJR-01A-11D-A41K-08	170816381	197521710	45677663	6	30304											
MOGAT1	116255	broad.mit.edu	37	chr2	223559867	223559867	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgtttaaacaaactgacaAccctgaaggatcatggatta	16	10	7	8	0	1	2	1	2	0	0	1	4	1	4	1	2	3	1	1	2	6	3	rs185619677		TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr2:223559867A>G	ENST00000446656.3	+	5	713	c.713A>G	c.(712-714)aAc>aGc	p.N238S	snoU13_ENST00000459212.1_RNA	NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	238					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			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)		CAAACTGACAACCCTGAAGGA	0.423													A|||	1	0.000199681	8e-04	0	5008	,	,		18274	0		0	False		,,,				2504	0				Ovarian(93;205 1446 2385 11581 25911)	ENST00000446656.3																			0				breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9						c.(712-714)aAc>aGc		monoacylglycerol O-acyltransferase 1		A	SER/ASN	1,3673		0,1,1836	100	92	94		713	0.9	0	2		94	0,8174		0,0,4087	no	missense	MOGAT1	NM_058165.2	46	0,1,5923	GG,GA,AA		0.0,0.0272,0.0084	probably-damaging	238/336	223559867	1,11847	1837	4087	5924	SO:0001583	missense	116255				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr2:223559867A>G	AF384163	CCDS46524.1	2q36.2	2006-10-06	2004-05-28	2004-05-28	ENSG00000124003	ENSG00000124003			18210	protein-coding gene	gene with protein product		610268	"diacylglycerol O-acyltransferase 2 like 1"	DGAT2L1		14970677	Standard	NM_058165		Approved	DGAT2L, MGAT1	uc010fws.1	Q96PD6	OTTHUMG00000153394	ENST00000446656.3:c.713A>G	2.37:g.223559867A>G	ENSP00000406674:p.Asn238Ser						p.N238S	NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)	5	713	+		Renal(207;0.0183)	238					Q6IEE5	Missense_Mutation	SNP	ENST00000446656.3	37	c.713A>G	CCDS46524.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	10.69	1.420810	0.25639	2.72E-4	0.0	ENSG00000124003	ENST00000446656	T	0.15139	2.45	4.84	0.86	0.19042	.	0.299915	0.31809	N	0.007034	T	0.24431	0.0592	M	0.73598	2.24	0.43014	D	0.994559	P	0.38395	0.629	P	0.45232	0.474	T	0.06320	-1.0833	10	0.17832	T	0.49	-14.3876	12.3882	0.55345	0.593:0.4069:0.0:0.0	.	238	Q96PD6	MOGT1_HUMAN	S	238	ENSP00000406674:N238S	ENSP00000406674:N238S	N	+	2	0	MOGAT1	223268111	1.000000	0.71417	0.030000	0.17652	0.014000	0.08584	6.685000	0.74543	-0.004000	0.14419	0.450000	0.29827	AAC		0.423	MOGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331010.3	NM_058165		7	24	0	0	0	1	0	7	24					G	223559867	A	G	223559867	3	3	439	1	0	0	0	0	1	0	0	0	9694	43	2	4	731	4	MOGAT1	2	223559867	Missense_Mutation	SNP	A	TCGA-XK-AAJR-01A-11D-A41K-08	26038157	223559867	19639506	7	30305											
TRANK1	9881	broad.mit.edu	37	chr3	36873537	36873537	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggctcttgtcacgtcctTgggtttgtattcctgaatga	7	16	10	8	1	2	2	1	2	1	0	4	2	4	2	2	2	0	3	2	2	3	5			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr3:36873537T>A	ENST00000429976.2	-	21	7652	c.7405A>T	c.(7405-7407)Aag>Tag	p.K2469*	TRANK1_ENST00000301807.6_Nonsense_Mutation_p.K1919*|TRANK1_ENST00000428977.2_Nonsense_Mutation_p.K1919*	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2469							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			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						GTCACGTCCTTGGGTTTGTAT	0.483																																						ENST00000301807.6																			0				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						c.(5755-5757)Aag>Tag		tetratricopeptide repeat and ankyrin repeat containing 1							113	113	113					3																	36873537		2001	4178	6179	SO:0001587	stop_gained	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36873537T>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7405A>T	3.37:g.36873537T>A	ENSP00000416168:p.Lys2469*					TRANK1_ENST00000429976.2_Nonsense_Mutation_p.K2469*|TRANK1_ENST00000428977.2_Nonsense_Mutation_p.K1919*	p.K1919*	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			21	7652	-			2469					Q8N8K0	Nonsense_Mutation	SNP	ENST00000429976.2	37	c.5755A>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	46	12.161652	0.99642	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	.	.	.	4.9	4.9	0.64082	.	0.000000	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4318	0.27132	0.0:0.0769:0.1446:0.7785	.	.	.	.	X	1919;2469;1919	.	ENSP00000301807:K1919X	K	-	1	0	TRANK1	36848541	0.981000	0.34729	0.665000	0.29768	0.843000	0.47879	1.890000	0.39728	1.964000	0.57103	0.459000	0.35465	AAG		0.483	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		18	41	0	0	0	1	0	18	41					A	36873537	T	A	36873537	4	1	439	1	0	0	0	0	0	1	0	0	16451	1821	63	5	1384	5	TRANK1	3	36873537	Nonsense_Mutation	SNP	T	TCGA-XK-AAJR-01A-11D-A41K-08		36873537	161148893	8	30306											
ALS2CL	259173	broad.mit.edu	37	chr3	46718435	46718435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtccctggggcagccaGcacacacaaagtcccggaag	11	3	13	14	1	0	0	0	0	0	0	2	1	2	1	3	4	2	3	3	4	2	0			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr3:46718435G>A	ENST00000318962.4	-	17	1918	c.1835C>T	c.(1834-1836)gCt>gTt	p.A612V	ALS2CL_ENST00000415953.1_Missense_Mutation_p.A612V|ALS2CL_ENST00000383742.3_5'UTR	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	612					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGGGCAGCCAGCACACACAAA	0.662																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(1834-1836)gCt>gTt		ALS2 C-terminal like							56	67	63					3																	46718435		2203	4299	6502	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46718435G>A	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1835C>T	3.37:g.46718435G>A	ENSP00000313670:p.Ala612Val					ALS2CL_ENST00000383742.3_5'UTR|ALS2CL_ENST00000415953.1_Missense_Mutation_p.A612V	p.A612V	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	17	1918	-			612					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.1835C>T	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	G	8.182	0.794102	0.16327	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.55930	0.49;0.49	4.65	2.78	0.32641	.	0.342057	0.24398	N	0.038877	T	0.38401	0.1039	L	0.44542	1.39	0.20638	N	0.999878	B	0.31680	0.335	B	0.28139	0.086	T	0.19877	-1.0292	10	0.37606	T	0.19	.	6.4243	0.21760	0.1002:0.0:0.7176:0.1822	.	612	Q60I27	AL2CL_HUMAN	V	612	ENSP00000313670:A612V;ENSP00000413223:A612V	ENSP00000313670:A612V	A	-	2	0	ALS2CL	46693439	0.720000	0.27996	0.008000	0.14137	0.500000	0.33767	2.934000	0.48956	0.535000	0.28714	0.561000	0.74099	GCT		0.662	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		10	56	0	0	0	1	0	10	56					A	46718435	G	A	46718435	3	1	439	1	0	0	0	0	1	0	0	0	551	971	34	3	1066	3	ALS2CL	3	46718435	Missense_Mutation	SNP	G	TCGA-XK-AAJR-01A-11D-A41K-08	9844898	46718435	151303995	9	30307											
SMARCC1	6599	broad.mit.edu	37	chr3	47663719	47663719	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctttctctctgtccatgAtagtttccagctcttcaaaa	8	17	4	12	0	5	1	1	1	4	0	8	1	7	1	2	0	1	2	2	0	3	5			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr3:47663719A>T	ENST00000254480.5	-	25	2878	c.2759T>A	c.(2758-2760)aTc>aAc	p.I920N	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	920					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			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)		TCTGTCCATGATAGTTTCCAG	0.353																																						ENST00000254480.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(2758-2760)aTc>aAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							171	173	172					3																	47663719		2203	4300	6503	SO:0001583	missense	6599				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	g.chr3:47663719A>T	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2759T>A	3.37:g.47663719A>T	ENSP00000254480:p.Ile920Asn					SMARCC1_ENST00000425518.1_5'UTR	p.I920N	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	25	2878	-			920					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.2759T>A	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743085	0.89663	.	.	ENSG00000173473	ENST00000254480	T	0.23950	1.88	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.78344	2.41	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.58020	-0.7710	10	0.87932	D	0	-15.5273	15.448	0.75248	1.0:0.0:0.0:0.0	.	920	Q92922	SMRC1_HUMAN	N	920	ENSP00000254480:I920N	ENSP00000254480:I920N	I	-	2	0	SMARCC1	47638723	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	9.339000	0.96797	2.240000	0.73641	0.533000	0.62120	ATC		0.353	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			28	82	0	0	0	1	0	28	82					T	47663719	A	T	47663719	3	4	439	1	0	0	0	0	1	0	0	0	14775	333	12	5	574	5	SMARCC1	3	47663719	Missense_Mutation	SNP	A	TCGA-XK-AAJR-01A-11D-A41K-08	945284	47663719	150358711	10	30308											
COL7A1	1294	broad.mit.edu	37	chr3	48629869	48629869	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctgtgggctgtggtattCtggatggtcagttccggccc	4	12	16	9	1	2	0	1	0	1	0	3	1	3	1	2	6	0	4	2	6	1	3			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr3:48629869C>T	ENST00000328333.8	-	8	1115	c.1008G>A	c.(1006-1008)caG>caA	p.Q336Q	COL7A1_ENST00000454817.1_Silent_p.Q336Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	336	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			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)		CTGTGGTATTCTGGATGGTCA	0.627																																						ENST00000328333.8																			0				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						c.(1006-1008)caG>caA		collagen, type VII, alpha 1							38	40	40					3																	48629869		2203	4300	6503	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48629869C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1008G>A	3.37:g.48629869C>T						COL7A1_ENST00000454817.1_Silent_p.Q336Q	p.Q336Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	8	1115	-			336			Fibronectin type-III 2.|Nonhelical region (NC1).		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.1008G>A	CCDS2773.1																																																																																				0.627	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		9	23	0	0	0	1	0	9	23					T	48629869	C	T	48629869	2	4	439	1	0	0	0	0	0	0	0	1	3704	912	32	3		3	COL7A1	3	48629869	Silent	SNP	C	TCGA-XK-AAJR-01A-11D-A41K-08	966150	48629869	149392561	11	30309											
PBRM1	55193	broad.mit.edu	37	chr3	52682417	52682417	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcattttttgcgaggagatcTatatctttggccattgcatg	8	16	10	7	1	2	1	0	0	2	1	2	3	2	1	1	2	2	2	1	2	2	7			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr3:52682417T>G	ENST00000296302.7	-	7	757	c.756A>C	c.(754-756)atA>atC	p.I252I	PBRM1_ENST00000410007.1_Silent_p.I252I|PBRM1_ENST00000394830.3_Silent_p.I252I|PBRM1_ENST00000356770.4_Silent_p.I252I|PBRM1_ENST00000337303.4_Silent_p.I252I|PBRM1_ENST00000409114.3_Silent_p.I252I|PBRM1_ENST00000409057.1_Silent_p.I252I|PBRM1_ENST00000409767.1_Silent_p.I252I			Q86U86	PB1_HUMAN	polybromo 1	252	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D251fs*31(3)|p.M248fs*9(2)		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)		CGAGGAGATCTATATCTTTGG	0.338			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"Mis, N, F, S, D, O"	polybromo 1			E			"clear cell renal carcinoma, breast"		5	Deletion - Frameshift(5)	p.D251fs*31(3)|p.M248fs*9(2)	kidney(5)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(754-756)atA>atC		polybromo 1							192	184	186					3																	52682417		2203	4300	6503	SO:0001819	synonymous_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52682417T>G	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.756A>C	3.37:g.52682417T>G						PBRM1_ENST00000409057.1_Silent_p.I252I|PBRM1_ENST00000410007.1_Silent_p.I252I|PBRM1_ENST00000409767.1_Silent_p.I252I|PBRM1_ENST00000409114.3_Silent_p.I252I|PBRM1_ENST00000394830.3_Silent_p.I252I|PBRM1_ENST00000337303.4_Silent_p.I252I|PBRM1_ENST00000296302.7_Silent_p.I252I	p.I252I			Q86U86	PB1_HUMAN		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)	7	758	-			252			Bromo 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37	c.756A>C																																																																																					0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		5	65	0	0	0	1	0	5	65					G	52682417	T	G	52682417	2	3	439	1	0	0	0	0	0	0	0	1	11491	1512	53	5		5	PBRM1	3	52682417	Silent	SNP	T	TCGA-XK-AAJR-01A-11D-A41K-08	4052548	52682417	145340013	12	30310											
POLQ	10721	broad.mit.edu	37	chr3	121228543	121228543	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagatgtgttggatgataCacctttcctggtttagggtt	8	15	11	7	0	0	2	0	1	0	1	1	3	1	3	3	3	1	3	3	3	3	6			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr3:121228543C>A	ENST00000264233.5	-	12	1952	c.1824G>T	c.(1822-1824)gtG>gtT	p.V608V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	608					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			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)		TTGGATGATACACCTTTCCTG	0.393								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				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						c.(1822-1824)gtG>gtT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							105	114	111					3																	121228543		2202	4300	6502	SO:0001819	synonymous_variant	10721				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	g.chr3:121228543C>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1824G>T	3.37:g.121228543C>A							p.V608V	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	12	1952	-			608					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.1824G>T	CCDS33833.1																																																																																				0.393	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		14	63	1	0	1.3612e-06	1	1.4608e-06	14	63					A	121228543	C	A	121228543	2	1	439	1	0	0	0	0	0	0	0	1	12208	465	17	5		5	POLQ	3	121228543	Silent	SNP	C	TCGA-XK-AAJR-01A-11D-A41K-08	68546126	121228543	76793887	13	30311											
ATP13A5	344905	broad.mit.edu	37	chr3	193080381	193080381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctgaaaccgcttctccaGgtcgttccaaacatacctga	10	12	6	13	2	2	2	0	2	2	0	5	2	3	2	4	1	3	2	4	1	3	4			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr3:193080381G>T	ENST00000342358.4	-	4	547	c.430C>A	c.(430-432)Ctg>Atg	p.L144M		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	144						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			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)		CGCTTCTCCAGGTCGTTCCAA	0.448																																						ENST00000342358.4																			0				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						c.(430-432)Ctg>Atg		ATPase type 13A5							168	161	163					3																	193080381		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193080381G>T	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.430C>A	3.37:g.193080381G>T	ENSP00000341942:p.Leu144Met						p.L144M	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	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)	4	547	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		144					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.430C>A	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560538	0.45590	.	.	ENSG00000187527	ENST00000342358	T	0.31510	1.49	5.6	-3.68	0.04463	.	0.723006	0.12402	N	0.472013	T	0.28333	0.0700	M	0.63428	1.95	0.21020	N	0.999809	P	0.37158	0.585	B	0.43990	0.438	T	0.28933	-1.0028	10	0.45353	T	0.12	-1.0493	2.0496	0.03567	0.3323:0.3371:0.2203:0.1103	.	144	Q4VNC0	AT135_HUMAN	M	144	ENSP00000341942:L144M	ENSP00000341942:L144M	L	-	1	2	ATP13A5	194563075	0.000000	0.05858	0.933000	0.37362	0.857000	0.48899	-0.070000	0.11523	-0.368000	0.08040	-0.768000	0.03414	CTG		0.448	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		27	132	1	0	1.42536e-11	1	1.65041e-11	27	132					T	193080381	G	T	193080381	3	4	439	1	0	0	0	0	1	0	0	0	1127	991	35	5	3332	5	ATP13A5	3	193080381	Missense_Mutation	SNP	G	TCGA-XK-AAJR-01A-11D-A41K-08	71851838	193080381	4942049	14	30312											
LRPAP1	4043	broad.mit.edu	37	chr4	3526676	3526676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcttccttctccccatcttCgtccaagccgtcaagcttta	6	13	5	17	3	3	0	1	0	2	0	7	0	5	0	5	0	2	2	5	0	3	5			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr4:3526676C>T	ENST00000500728.2	-	2	453	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	103					extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TCCCCATCTTCGTCCAAGCCG	0.517																																						ENST00000500728.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14						c.(307-309)Gaa>Aaa		low density lipoprotein receptor-related protein associated protein 1							332	339	336					4																	3526676		2203	4300	6503	SO:0001583	missense	4043				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	g.chr4:3526676C>T		CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.307G>A	4.37:g.3526676C>T	ENSP00000421922:p.Glu103Lys					LRPAP1_ENST00000296325.5_5'UTR	p.E103K	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	2	453	-			103					D3DVR9|Q2M310|Q53HQ3|Q53HS6	Missense_Mutation	SNP	ENST00000500728.2	37	c.307G>A	CCDS3371.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.045829	0.00398	.	.	ENSG00000163956	ENST00000500728	T	0.40476	1.03	4.18	0.111	0.14619	Alpha-2-macroglobulin receptor-associated protein, domain 1 (3);	0.636126	0.16262	N	0.222183	T	0.20536	0.0494	N	0.13272	0.32	0.09310	N	1	B	0.13594	0.008	B	0.15870	0.014	T	0.27297	-1.0078	10	0.12766	T	0.61	-4.8153	8.1079	0.30896	0.0:0.5991:0.241:0.1599	.	103	P30533	AMRP_HUMAN	K	103	ENSP00000421922:E103K	ENSP00000421922:E103K	E	-	1	0	LRPAP1	3496474	0.009000	0.17119	0.000000	0.03702	0.007000	0.05969	0.925000	0.28791	-0.374000	0.07967	-0.797000	0.03246	GAA		0.517	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			50	324	0	0	0	1	0	50	324					T	3526676	C	T	3526676	3	4	439	1	0	0	0	0	1	0	0	0	8964	893	31	2	794	2	LRPAP1	4	3526676	Missense_Mutation	SNP	C	TCGA-XK-AAJR-01A-11D-A41K-08		3526676	187627600	15	30313											
C4orf23	152992	broad.mit.edu	37	chr4	8467104	8467104	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttgttggttctttttgaaGgtcttcctacaattgccgct	5	18	10	8	1	2	1	0	1	2	0	3	1	3	1	2	3	2	4	2	3	3	8			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr4:8467104G>A	ENST00000389737.4	+	8	1310		c.e8-1		TRMT44_ENST00000513449.2_Splice_Site	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)						tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										TCTTTTTGAAGGTCTTCCTAC	0.488																																						ENST00000389737.4																			0											c.e8-1		tRNA methyltransferase 44 homolog (S. cerevisiae)							306	266	279					4																	8467104		2203	4300	6503	SO:0001630	splice_region_variant	152992							g.chr4:8467104G>A	AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"tRNA methyltransferase 44 homolog (S. cerevisiae)"	614309	"chromosome 4 open reading frame 23", "methyltransferase like 19"	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1311-1G>A	4.37:g.8467104G>A						TRMT44_ENST00000513449.2_Splice_Site		NM_152544.2	NP_689757.2					8	1310	+								Q8NA95	Splice_Site	SNP	ENST00000389737.4	37		CCDS3402.2	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844432	0.51164	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9736	0.89120	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	METTL19	8518004	1.000000	0.71417	0.997000	0.53966	0.348000	0.29142	6.450000	0.73477	2.462000	0.83206	0.650000	0.86243	.		0.488	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544	Intron	12	97	0	0	0	1	0	12	97					A	8467104	G	A	8467104	5	1	439	1	0	0	0	0	0	0	1	0	2256	1014	35	3	1340	3	C4orf23	4	8467104	Splice_Site	SNP	G	TCGA-XK-AAJR-01A-11D-A41K-08	4940428	8467104	182687172	16	30314											
BOD1L	259282	broad.mit.edu	37	chr4	13606319	13606319	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagacaatttgtcttcCgatggagttttctctctttc	7	18	6	10	1	4	1	1	0	3	1	7	3	5	2	1	1	0	1	1	1	1	6	rs201716332		TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr4:13606319C>T	ENST00000040738.5	-	10	2340	c.2205G>A	c.(2203-2205)tcG>tcA	p.S735S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	735	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S735S(1)									ATTTGTCTTCCGATGGAGTTT	0.363																																						ENST00000040738.5																			1	Substitution - coding silent(1)	p.S735S(1)	large_intestine(1)								c.(2203-2205)tcG>tcA		biorientation of chromosomes in cell division 1-like 1		T		0,4404		0,0,2202	82	79	80		2205	-4.1	0.1	4		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BOD1L	NM_148894.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		735/3052	13606319	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13606319C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2205G>A	4.37:g.13606319C>T							p.S735S	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	2340	-			735			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.2205G>A	CCDS3411.2																																																																																				0.363	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		8	43	0	0	0	1	0	8	43					T	13606319	C	T	13606319	2	4	439	1	0	0	0	0	0	0	0	1	1483	639	23	2		2	BOD1L	4	13606319	Silent	SNP	C	TCGA-XK-AAJR-01A-11D-A41K-08	5139215	13606319	177547957	17	30315											
GRIA1	2890	broad.mit.edu	37	chr5	153056637	153056637	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagagaattgatatatcTcgccgggggaatgctgggga	11	8	16	6	2	1	2	0	1	1	1	2	5	1	4	1	5	1	2	1	5	4	3			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr5:153056637T>G	ENST00000285900.5	+	7	1288	c.945T>G	c.(943-945)tcT>tcG	p.S315S	GRIA1_ENST00000340592.5_Silent_p.S315S|GRIA1_ENST00000521843.2_Silent_p.S246S|GRIA1_ENST00000518783.1_Silent_p.S325S|GRIA1_ENST00000518142.1_Silent_p.S235S|GRIA1_ENST00000448073.4_Silent_p.S325S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	315					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TTGATATATCTCGCCGGGGGA	0.567																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(943-945)tcT>tcG		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						72	67	69					5																	153056637		2203	4300	6503	SO:0001819	synonymous_variant	0				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	g.chr5:153056637T>G		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.945T>G	5.37:g.153056637T>G						GRIA1_ENST00000518783.1_Silent_p.S325S|GRIA1_ENST00000518142.1_Silent_p.S235S|GRIA1_ENST00000340592.5_Silent_p.S315S|GRIA1_ENST00000448073.4_Silent_p.S325S|GRIA1_ENST00000521843.2_Silent_p.S246S	p.S315S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		7	1288	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	315					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.945T>G	CCDS4322.1																																																																																				0.567	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			4	19	0	0	0	1	0	4	19					G	153056637	T	G	153056637	2	3	439	1	0	0	0	0	0	0	0	1	6767	1538	54	5		5	GRIA1	5	153056637	Silent	SNP	T	TCGA-XK-AAJR-01A-11D-A41K-08		153056637	27858623	18	30316											
CCDC146	57639	broad.mit.edu	37	chr7	76888375	76888375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagatagaaaaaataacaCgcaaaaaagtgtatgattta	23	8	7	3	1	0	3	0	1	0	2	0	4	0	3	0	0	1	2	0	0	11	5	rs141122498		TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr7:76888375C>T	ENST00000285871.4	+	7	875	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	AC073635.5_ENST00000476561.2_RNA|CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	250										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAAAATAACACGCAAAAAAGT	0.348													C|||	1	0.000199681	0	0.0014	5008	,	,		17090	0		0	False		,,,				2504	0					ENST00000285871.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(748-750)Cgc>Tgc		coiled-coil domain containing 146		C	CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	68	62	64		748	5.7	1	7	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CCDC146	NM_020879.2	180	0,8,6495	TT,TC,CC		0.0233,0.1362,0.0615	probably-damaging	250/956	76888375	8,12998	2203	4300	6503	SO:0001583	missense	57639							g.chr7:76888375C>T	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.748C>T	7.37:g.76888375C>T	ENSP00000285871:p.Arg250Cys					CCDC146_ENST00000431197.1_5'UTR	p.R250C	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN			7	875	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	250					A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.748C>T	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289647	0.80914	0.001362	2.33E-4	ENSG00000135205	ENST00000285871	T	0.27104	1.69	5.71	5.71	0.89125	.	0.343351	0.32081	N	0.006616	T	0.40522	0.1120	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	T	0.14254	-1.0479	10	0.66056	D	0.02	-7.9233	16.7742	0.85546	0.0:1.0:0.0:0.0	.	250	Q8IYE0	CC146_HUMAN	C	250	ENSP00000285871:R250C	ENSP00000285871:R250C	R	+	1	0	AC007000.1	76726311	0.997000	0.39634	0.997000	0.53966	0.957000	0.61999	4.696000	0.61774	2.685000	0.91497	0.563000	0.77884	CGC		0.348	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		8	35	0	0	0	1	0	8	35					T	76888375	C	T	76888375	3	4	439	1	0	0	0	0	1	0	0	0	2780	536	19	1	770	1	CCDC146	7	76888375	Missense_Mutation	SNP	C	TCGA-XK-AAJR-01A-11D-A41K-08		76888375	82250288	19	30317											
ZFHX4	79776	broad.mit.edu	37	chr8	77775449	77775451	+	In_Frame_Del	DEL	CCT	CCT	-																															agactccaccacctccaccaCctcctcctcctcctcctcct																								rs199874527		TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr8:77775449_77775451delCCT	ENST00000521891.2	+	11	9947_9949	c.9499_9501delCCT	c.(9499-9501)cctdel	p.P3173del	ZFHX4_ENST00000518282.1_In_Frame_Del_p.P3147del|ZFHX4_ENST00000455469.2_In_Frame_Del_p.P3128del|ZFHX4_ENST00000050961.6_In_Frame_Del_p.P3124del	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P3151H(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)			acctccaccacctcctcctcctc	0.522										HNSCC(33;0.089)																												ENST00000521891.2																			1	Substitution - Missense(1)	p.P3151H(1)	large_intestine(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						c.(9499-9501)del		zinc finger homeobox 4				40,3796		5,30,1883						2.2	1			54	74,7900		1,72,3914	no	coding	ZFHX4	NM_024721.4		6,102,5797	A1A1,A1R,RR		0.928,1.0428,0.9653				114,11696				SO:0001651	inframe_deletion	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775449_77775451delCCT		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9499_9501delCCT	8.37:g.77775458_77775460delCCT	ENSP00000430497:p.Pro3173del	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_In_Frame_Del_p.P3124del|ZFHX4_ENST00000455469.2_In_Frame_Del_p.P3128del|ZFHX4_ENST00000518282.1_In_Frame_Del_p.P3147del	p.P3173del	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	9947_9949	+			3124					G3V138|Q18PS0|Q6ZN20	In_Frame_Del	DEL	ENST00000521891.2	37	c.9499_9501delCCT	CCDS47878.2																																																																																				0.522	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		3	6						3	6	---	---	---	---	-	77775451	CCT	-	77775449	7	5	439	1	0	1	0	1	0	0	0	0	17632	507	18	0	9537	0	ZFHX4	8	77775449	In_Frame_Del	DEL	CCT	TCGA-XK-AAJR-01A-11D-A41K-08		77775449	68588573	20	30318											
NBN	4683	broad.mit.edu	37	chr8	90955507	90955507	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgccttagccactcttCtagttctgtattctttcgag	5	18	6	12	1	4	0	0	0	4	0	6	1	5	0	3	0	2	2	3	0	3	8			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr8:90955507C>A	ENST00000265433.3	-	14	2312	c.2158G>T	c.(2158-2160)Gaa>Taa	p.E720*	NBN_ENST00000409330.1_Nonsense_Mutation_p.E638*	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	720					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			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)			AGCCACTCTTCTAGTTCTGTA	0.418								Homologous recombination																														ENST00000265433.3																			0				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						c.(2158-2160)Gaa>Taa	Homologous recombination	nibrin							169	152	158					8																	90955507		2203	4300	6503	SO:0001587	stop_gained	4683				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	g.chr8:90955507C>A	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.2158G>T	8.37:g.90955507C>A	ENSP00000265433:p.Glu720*					NBN_ENST00000409330.1_Nonsense_Mutation_p.E638*	p.E720*	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		14	2312	-			720					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Nonsense_Mutation	SNP	ENST00000265433.3	37	c.2158G>T	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	C	39	7.790501	0.98492	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	.	.	.	5.77	5.77	0.91146	.	0.185489	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.3506	19.5987	0.95551	0.0:1.0:0.0:0.0	.	.	.	.	X	720;638	.	ENSP00000265433:E720X	E	-	1	0	NBN	91024683	1.000000	0.71417	0.995000	0.50966	0.927000	0.56198	4.851000	0.62896	2.717000	0.92951	0.650000	0.86243	GAA		0.418	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		14	53	1	0	2.32078e-09	1	2.61832e-09	14	53					A	90955507	C	A	90955507	4	1	439	1	0	0	0	0	0	1	0	0	10191	922	32	5	118	5	NBN	8	90955507	Nonsense_Mutation	SNP	C	TCGA-XK-AAJR-01A-11D-A41K-08	13180058	90955507	55408515	21	30319											
FAM75A6	389730	broad.mit.edu	37	chr9	43627707	43627707	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgacttgtatccccacgAcattctggccatcagagctg	8	11	9	13	1	2	2	1	1	1	1	3	3	3	2	3	1	1	2	3	1	1	3	rs200754251		TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr9:43627707A>G	ENST00000332857.6	-	4	1008	c.980T>C	c.(979-981)gTc>gCc	p.V327A	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	327					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TATCCCCACGACATTCTGGCC	0.458																																						ENST00000332857.6																			0											c.(979-981)gTc>gCc		SPATA31 subfamily A, member 6																																				SO:0001583	missense	389730							g.chr9:43627707A>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.980T>C	9.37:g.43627707A>G	ENSP00000329825:p.Val327Ala						p.V327A	NM_001145196.1	NP_001138668.1					4	1008	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.980T>C	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	A	5.178	0.218349	0.09810	.	.	ENSG00000185775	ENST00000332857	T	0.03689	3.84	1.91	0.742	0.18341	.	1.139540	0.06749	N	0.779725	T	0.04003	0.0112	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45411	-0.9263	10	0.41790	T	0.15	0.2104	3.755	0.08582	0.7999:0.0:0.2001:0.0	.	327	Q5VVP1	F75A6_HUMAN	A	327	ENSP00000329825:V327A	ENSP00000329825:V327A	V	-	2	0	FAM75A6	43567703	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.032000	0.13732	0.203000	0.20529	0.369000	0.22263	GTC		0.458	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		8	262	0	0	0	1	0	8	262					G	43627707	A	G	43627707	3	3	439	1	0	0	0	0	1	0	0	0	5622	275	10	4	3055	4	FAM75A6	9	43627707	Missense_Mutation	SNP	A	TCGA-XK-AAJR-01A-11D-A41K-08		43627707	97585724	22	30320											
GPR158	57512	broad.mit.edu	37	chr10	25887055	25887055	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacggaagagtccagtagcCtacccacagaaagccaagag	17	3	10	11	1	0	3	0	0	0	3	1	4	1	4	4	1	4	1	4	1	6	2			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr10:25887055C>T	ENST00000376351.3	+	11	2859	c.2500C>T	c.(2500-2502)Cta>Tta	p.L834L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	834					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			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						GTCCAGTAGCCTACCCACAGA	0.468																																						ENST00000376351.3																			0				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						c.(2500-2502)Cta>Tta		G protein-coupled receptor 158							122	132	128					10																	25887055		2203	4300	6503	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887055C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2500C>T	10.37:g.25887055C>T						GPR158_ENST00000490549.1_3'UTR	p.L834L	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	2859	+			834					Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.2500C>T	CCDS31166.1																																																																																				0.468	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		4	61	0	0	0	1	0	4	61					T	25887055	C	T	25887055	2	4	439	1	0	0	0	0	0	0	0	1	6663	680	24	3		3	GPR158	10	25887055	Silent	SNP	C	TCGA-XK-AAJR-01A-11D-A41K-08		25887055	109647692	23	30321											
PCF11	51585	broad.mit.edu	37	chr11	82877721	82877722	+	Frame_Shift_Ins	INS	-	-	A																															ggcaaagttccaagtctgccINSaaaagatggaaatctggttg																								rs374073017		TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr11:82877721_82877722insA	ENST00000298281.4	+	5	2234_2235	c.1782_1783insA	c.(1783-1785)aaafs	p.K595fs		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	595					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCAAGTCTGCCAAAAGATGGAA	0.356																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(1780-1785)gcaaagfs		PCF11 cleavage and polyadenylation factor subunit																																				SO:0001589	frameshift_variant	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877721_82877722insA	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1786dupA	11.37:g.82877725_82877725dupA	ENSP00000298281:p.Lys595fs						p.AK594fs	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			5	2234_2235	+			594					A6H8W7|O43671|Q6P0X8	Frame_Shift_Ins	INS	ENST00000298281.4	37	c.1782_1783insA	CCDS44689.1																																																																																				0.356	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		13	55						13	55	---	---	---	---	A	82877722	-	A	82877721	7	5	439	1	0	1	1	0	0	0	0	0	11573	581	21	0	1800	0	PCF11	11	82877721	Frame_Shift_Ins	INS	-	TCGA-XK-AAJR-01A-11D-A41K-08		82877721	52128795	24	30322											
OPCML	4978	broad.mit.edu	37	chr11	132307147	132307147	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttttactttccgcacatcGggcgcagcgacatcgttcaa	9	12	8	12	5	1	0	1	0	0	0	4	1	2	0	1	1	2	3	1	1	2	5			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr11:132307147G>A	ENST00000331898.7	-	4	1211	c.633C>T	c.(631-633)ccC>ccT	p.P211P	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.P211P|OPCML_ENST00000524381.1_Silent_p.P204P|OPCML_ENST00000374778.4_Silent_p.P170P	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	211	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCCGCACATCGGGCGCAGCGA	0.537																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(631-633)ccC>ccT		opioid binding protein/cell adhesion molecule-like							129	114	119					11																	132307147		2201	4297	6498	SO:0001819	synonymous_variant	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132307147G>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.633C>T	11.37:g.132307147G>A						OPCML_ENST00000541867.1_Silent_p.P211P|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Silent_p.P170P|OPCML_ENST00000524381.1_Silent_p.P204P	p.P211P	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	4	1211	-	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)	211			Ig-like C2-type 2.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	c.633C>T	CCDS8492.1																																																																																				0.537	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		4	69	0	0	0	1	0	4	69					A	132307147	G	A	132307147	2	1	439	1	0	0	0	0	0	0	0	1	10874	1103	39	2		2	OPCML	11	132307147	Silent	SNP	G	TCGA-XK-AAJR-01A-11D-A41K-08	49429426	132307147	2699369	25	30323											
ABCD2	225	broad.mit.edu	37	chr12	40010812	40010812	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgcaaagccagttgcAgtgataataggtatagccac	13	9	9	10	0	1	1	0	1	1	0	1	1	1	1	3	1	4	4	3	1	5	5			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr12:40010812A>C	ENST00000308666.3	-	2	1233	c.1098T>G	c.(1096-1098)acT>acG	p.T366T		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	366	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AGCCAGTTGCAGTGATAATAG	0.338																																						ENST00000308666.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1096-1098)acT>acG		ATP-binding cassette, sub-family D (ALD), member 2							151	128	136					12																	40010812		2203	4300	6503	SO:0001819	synonymous_variant	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40010812A>C	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1098T>G	12.37:g.40010812A>C							p.T366T	NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN			2	1233	-			366			ABC transmembrane type-1.		B2RAM3|Q13210|Q2M3H9	Silent	SNP	ENST00000308666.3	37	c.1098T>G	CCDS8734.1																																																																																				0.338	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		11	95	0	0	0	1	0	11	95					C	40010812	A	C	40010812	2	2	439	1	0	0	0	0	0	0	0	1	61	175	7	5		5	ABCD2	12	40010812	Silent	SNP	A	TCGA-XK-AAJR-01A-11D-A41K-08		40010812	93841083	26	30324											
GZMH	2999	broad.mit.edu	37	chr14	25076563	25076563	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgggccttgctgctaGgtagcctgagaggccgcaca	7	8	13	13	1	1	1	1	1	0	1	1	2	1	1	4	3	3	4	4	3	2	3			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr14:25076563G>C	ENST00000216338.4	-	4	433	c.389C>G	c.(388-390)cCt>cGt	p.P130R	GZMH_ENST00000557220.2_Intron|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000382548.4_Intron	NM_033423.4	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	130	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)	membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CTTGCTGCTAGGTAGCCTGAG	0.582																																						ENST00000216338.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12						c.(388-390)cCt>cGt		granzyme H (cathepsin G-like 2, protein h-CCPX)							59	56	57					14																	25076563		2203	4300	6503	SO:0001583	missense	2999				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	g.chr14:25076563G>C	M72150	CCDS9632.1, CCDS59243.1	14q11.2	2003-10-20			ENSG00000100450	ENSG00000100450			4710	protein-coding gene	gene with protein product		116831		CTSGL2		2049336	Standard	NM_033423		Approved	CGL-2, CCP-X, CTLA1, CSP-C	uc001wpr.2	P20718	OTTHUMG00000140185	ENST00000216338.4:c.389C>G	14.37:g.25076563G>C	ENSP00000216338:p.Pro130Arg					RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000557220.2_Intron|GZMH_ENST00000382548.4_Intron	p.P130R	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN		GBM - Glioblastoma multiforme(265;0.0267)	4	433	-			130			Peptidase S1.		G3V2C5|Q6XGZ0|Q6XGZ1	Missense_Mutation	SNP	ENST00000216338.4	37	c.389C>G	CCDS9632.1	.	.	.	.	.	.	.	.	.	.	g	14.24	2.476251	0.44044	.	.	ENSG00000100450	ENST00000216338	D	0.95137	-3.62	4.74	2.83	0.33086	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.96996	0.9019	M	0.90870	3.155	0.19300	N	0.999977	D	0.60160	0.987	P	0.62740	0.906	D	0.90855	0.4734	9	0.72032	D	0.01	.	8.2289	0.31587	0.0:0.1727:0.6482:0.179	.	130	P20718	GRAH_HUMAN	R	130	ENSP00000216338:P130R	ENSP00000216338:P130R	P	-	2	0	GZMH	24146403	0.909000	0.30893	0.016000	0.15963	0.001000	0.01503	1.879000	0.39618	0.637000	0.30526	0.655000	0.94253	CCT		0.582	GZMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276538.2	NM_033423		6	42	0	0	0	1	0	6	42					C	25076563	G	C	25076563	3	2	439	1	0	0	0	0	1	0	0	0	6917	1000	35	5	359	5	GZMH	14	25076563	Missense_Mutation	SNP	G	TCGA-XK-AAJR-01A-11D-A41K-08		25076563	82272977	27	30325											
PTPN21	11099	broad.mit.edu	37	chr14	89016642	89016642	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctggccagtgctctccacGgacagggtgaactccacaaa	10	7	10	14	1	1	1	0	1	1	0	4	2	3	2	4	3	2	1	4	3	2	0			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr14:89016642G>A	ENST00000556564.1	-	2	404	c.120C>T	c.(118-120)tcC>tcT	p.S40S	RP11-507K2.3_ENST00000556328.1_RNA|PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Silent_p.S40S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	40	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGCTCTCCACGGACAGGGTGA	0.612																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(118-120)tcC>tcT		protein tyrosine phosphatase, non-receptor type 21							110	107	108					14																	89016642		2203	4300	6503	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:89016642G>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.120C>T	14.37:g.89016642G>A						PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Silent_p.S40S	p.S40S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			2	404	-			40			FERM.			Silent	SNP	ENST00000556564.1	37	c.120C>T	CCDS9884.1																																																																																				0.612	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			8	62	0	0	0	1	0	8	62					A	89016642	G	A	89016642	2	1	439	1	0	0	0	0	0	0	0	1	12786	1103	39	2		2	PTPN21	14	89016642	Silent	SNP	G	TCGA-XK-AAJR-01A-11D-A41K-08	63940079	89016642	18332898	28	30326											
GCOM1	100820829	broad.mit.edu	37	chr15	57910316	57910316	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagatcagatcaaaatcAgcagaaagaaatggtggtgt	17	7	12	5	1	3	4	3	0	0	4	3	5	3	4	0	2	1	1	0	2	5	0			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr15:57910316A>T	ENST00000267853.5	+	3	342	c.248A>T	c.(247-249)cAg>cTg	p.Q83L	GCOM1_ENST00000380569.2_Missense_Mutation_p.Q83L|GCOM1_ENST00000572390.1_Missense_Mutation_p.Q83L|GCOM1_ENST00000380560.2_Missense_Mutation_p.Q83L|GCOM1_ENST00000380568.3_Missense_Mutation_p.Q83L|GCOM1_ENST00000574161.1_Missense_Mutation_p.Q83L|MYZAP_ENST00000380565.4_Missense_Mutation_p.Q83L|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380561.2_Missense_Mutation_p.Q83L|GCOM1_ENST00000587652.1_Missense_Mutation_p.Q83L|GCOM1_ENST00000396180.1_Missense_Mutation_p.Q83L			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	83					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											GATCAAAATCAGCAGAAAGAA	0.448																																						ENST00000574161.1																			0				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						c.(247-249)cAg>cTg									203	190	194					15																	57910316		2192	4292	6484	SO:0001583	missense	0				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57910316A>T	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"myocardium-enriched zonula adherens protein"	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.248A>T	15.37:g.57910316A>T	ENSP00000267853:p.Gln83Leu					GCOM1_ENST00000572390.1_Missense_Mutation_p.Q83L|GCOM1_ENST00000587652.1_Missense_Mutation_p.Q83L|GCOM1_ENST00000380568.3_Missense_Mutation_p.Q83L|GCOM1_ENST00000380561.2_Missense_Mutation_p.Q83L|MYZAP_ENST00000267853.5_Missense_Mutation_p.Q83L|MYZAP_ENST00000380565.4_Missense_Mutation_p.Q83L|GCOM1_ENST00000396180.1_Missense_Mutation_p.Q83L|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380569.2_Missense_Mutation_p.Q83L|GCOM1_ENST00000380560.2_Missense_Mutation_p.Q83L	p.Q83L	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN			3	367	+			83					D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	c.248A>T	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.180482	0.78677	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T;T;T;T	0.25579	1.85;1.79;1.81;1.8;1.84;1.85;1.84	6.17	6.17	0.99709	.	0.257505	0.43416	D	0.000580	T	0.25754	0.0627	L	0.50333	1.59	0.80722	D	1	P;P;P;B	0.40834	0.73;0.515;0.515;0.21	B;B;B;B	0.35688	0.208;0.208;0.208;0.208	T	0.02184	-1.1199	10	0.45353	T	0.12	-21.5303	15.8048	0.78491	1.0:0.0:0.0:0.0	.	83;83;83;83	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	L	83	ENSP00000369943:Q83L;ENSP00000369935:Q83L;ENSP00000379483:Q83L;ENSP00000369933:Q83L;ENSP00000267853:Q83L;ENSP00000369939:Q83L;ENSP00000369942:Q83L	ENSP00000267853:Q83L	Q	+	2	0	GCOM1	55697608	1.000000	0.71417	0.994000	0.49952	0.903000	0.53119	5.144000	0.64832	2.371000	0.80710	0.533000	0.62120	CAG		0.448	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		16	53	0	0	0	1	0	16	53					T	57910316	A	T	57910316	3	4	439	1	0	0	0	0	1	0	0	0	6304	188	7	5	258	5	GCOM1	15	57910316	Missense_Mutation	SNP	A	TCGA-XK-AAJR-01A-11D-A41K-08		57910316	44621076	29	30327											
NEIL1	79661	broad.mit.edu	37	chr15	75644728	75644728	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcagcagcacaggccGgtaagcccagagagggatgg	10	3	16	12	1	0	1	0	0	0	1	0	3	0	2	3	4	4	4	3	4	1	1	rs376582145		TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr15:75644728G>A	ENST00000564784.1	+	5	1247	c.618G>A	c.(616-618)ccG>ccA	p.P206P	NEIL1_ENST00000567959.1_3'UTR|RP11-817O13.6_ENST00000563660.1_lincRNA|NEIL1_ENST00000355059.4_Splice_Site_p.P206P|NEIL1_ENST00000569035.1_Splice_Site_p.P206P|MIR631_ENST00000384904.1_RNA			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	206					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						AGCACAGGCCGGTAAGCCCAG	0.642								Base excision repair (BER), DNA glycosylases					G|||	1	0.000199681	0	0	5008	,	,		19883	0		0	False		,,,				2504	0.001					ENST00000564784.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						c.e5+1	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 1 (E. coli)		G		0,4394		0,0,2197	52	54	53		618	5.7	1	15		53	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous-near-splice	NEIL1	NM_024608.2		0,1,6490	AA,AG,GG		0.0116,0.0,0.0077		206/391	75644728	1,12981	2197	4294	6491	SO:0001630	splice_region_variant	79661				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	g.chr15:75644728G>A	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.618+1G>A	15.37:g.75644728G>A						NEIL1_ENST00000569035.1_Splice_Site_p.P206_splice|NEIL1_ENST00000355059.4_Splice_Site_p.P206_splice|NEIL1_ENST00000567959.1_3'UTR	p.P206_splice			Q96FI4	NEIL1_HUMAN			5	1247	+			206					D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Splice_Site	SNP	ENST00000564784.1	37	c.618_splice	CCDS10278.1																																																																																				0.642	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608	Silent	3	43	0	0	0	1	0	3	43					A	75644728	G	A	75644728	5	1	439	1	0	0	0	0	0	0	1	0	10318	1130	39	2	628	2	NEIL1	15	75644728	Splice_Site	SNP	G	TCGA-XK-AAJR-01A-11D-A41K-08	17734412	75644728	26886664	30	30328											
POLR2C	5432	broad.mit.edu	37	chr16	57496641	57496641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccctgggcgagatgcCgtacgccaaccagcctaccg	7	5	13	16	4	0	1	0	0	0	1	0	2	0	1	7	2	5	1	7	2	3	2			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr16:57496641C>T	ENST00000219252.5	+	1	343	c.5C>T	c.(4-6)cCg>cTg	p.P2L	POLR2C_ENST00000564651.1_3'UTR|AC009052.12_ENST00000567090.1_RNA	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	2					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						GGCGAGATGCCGTACGCCAAC	0.652											OREG0023826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000219252.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.(4-6)cCg>cTg		polymerase (RNA) II (DNA directed) polypeptide C, 33kDa							27	21	23					16																	57496641		2194	4298	6492	SO:0001583	missense	5432				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	g.chr16:57496641C>T		CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"RNA polymerase subunits"	9189	protein-coding gene	gene with protein product	"RNA polymerase II subunit 3"	180663	"polymerase (RNA) II (DNA directed) polypeptide C (33kD)"			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.5C>T	16.37:g.57496641C>T	ENSP00000219252:p.Pro2Leu		OREG0023826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1023	POLR2C_ENST00000564651.1_3'UTR|AC009052.12_ENST00000567090.1_RNA	p.P2L	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN			1	343	+			2					O15161	Missense_Mutation	SNP	ENST00000219252.5	37	c.5C>T	CCDS10782.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468006	0.96257	.	.	ENSG00000102978	ENST00000219252	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.85292	0.5663	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89059	0.3461	9	0.87932	D	0	.	16.5086	0.84278	0.0:1.0:0.0:0.0	.	2;2	B7Z377;P19387	.;RPB3_HUMAN	L	2	.	ENSP00000219252:P2L	P	+	2	0	POLR2C	56054142	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	7.144000	0.77357	2.364000	0.80123	0.555000	0.69702	CCG		0.652	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257340.3	NM_032940		3	3	0	0	0	1	0	3	3					T	57496641	C	T	57496641	3	4	439	1	0	0	0	0	1	0	0	0	12216	652	23	2	7	2	POLR2C	16	57496641	Missense_Mutation	SNP	C	TCGA-XK-AAJR-01A-11D-A41K-08		57496641	32858112	31	30329											
ZFHX3	463	broad.mit.edu	37	chr16	72821850	72821850	+	Frame_Shift_Del	DEL	G	G	-																															cacttttgctttctgcttctGgctcttcagggagtttcggc																										TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr16:72821850delG	ENST00000268489.5	-	10	10997	c.10325delC	c.(10324-10326)ccafs	p.P3442fs	RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.P2528fs|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3442					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			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)				TTCTGCTTCTGGCTCTTCAGG	0.562																																						ENST00000268489.5																			0				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						c.(10324-10326)cafs		zinc finger homeobox 3							80	85	84					16																	72821850		2198	4300	6498	SO:0001589	frameshift_variant	463				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	g.chr16:72821850delG	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10325delC	16.37:g.72821850delG	ENSP00000268489:p.Pro3442fs					ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.P2528fs	p.P3442fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10997	-		Ovarian(137;0.13)	3442					D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	c.10325delC	CCDS10908.1																																																																																				0.562	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		11	61						11	61	---	---	---	---	-	72821850	G	-	72821850	7	5	439	1	0	1	0	1	0	0	0	0	17631	1348	47	0	790	0	ZFHX3	16	72821850	Frame_Shift_Del	DEL	G	TCGA-XK-AAJR-01A-11D-A41K-08	15325209	72821850	17532903	32	30330											
MYH3	4621	broad.mit.edu	37	chr17	10549033	10549033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttgtaccttctgtgcCatccggctcggcctgctcct	3	15	9	14	2	1	1	0	1	1	0	4	1	3	1	5	2	3	3	5	2	1	4			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr17:10549033C>T	ENST00000583535.1	-	12	1219	c.1132G>A	c.(1132-1134)Ggc>Agc	p.G378S	MYH3_ENST00000226209.7_Missense_Mutation_p.G378S	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	378	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			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						CCTTCTGTGCCATCCGGCTCG	0.527																																						ENST00000583535.1																			0				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						c.(1132-1134)Ggc>Agc		myosin, heavy chain 3, skeletal muscle, embryonic							108	94	99					17																	10549033		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10549033C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1132G>A	17.37:g.10549033C>T	ENSP00000464317:p.Gly378Ser					MYH3_ENST00000226209.7_Missense_Mutation_p.G378S	p.G378S	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			12	1219	-			378			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.1132G>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013035	0.75161	.	.	ENSG00000109063	ENST00000226209	T	0.70516	-0.49	4.94	4.94	0.65067	Myosin head, motor domain (2);	.	.	.	.	T	0.77644	0.4161	L	0.56124	1.755	0.54753	D	0.999988	P	0.39665	0.682	P	0.50405	0.64	T	0.79042	-0.1965	9	0.66056	D	0.02	.	18.7175	0.91680	0.0:1.0:0.0:0.0	.	378	P11055	MYH3_HUMAN	S	378	ENSP00000226209:G378S	ENSP00000226209:G378S	G	-	1	0	MYH3	10489758	1.000000	0.71417	0.961000	0.40146	0.017000	0.09413	7.609000	0.82925	2.728000	0.93425	0.655000	0.94253	GGC		0.527	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		9	53	0	0	0	1	0	9	53					T	10549033	C	T	10549033	3	4	439	1	0	0	0	0	1	0	0	0	10036	594	21	3	4810	3	MYH3	17	10549033	Missense_Mutation	SNP	C	TCGA-XK-AAJR-01A-11D-A41K-08		10549033	70646177	33	30331											
GNAL	2774	broad.mit.edu	37	chr18	11689860	11689860	+	Frame_Shift_Del	DEL	A	A	-																															aggcggtcaaggaggcgaggAaagtgagccggggcatcgac																										TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr18:11689860delA	ENST00000334049.6	+	1	906	c.298delA	c.(298-300)aaafs	p.K100fs		NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	23					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GGAGGCGAGGAAAGTGAGCCG	0.697																																						ENST00000334049.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(298-300)aafs		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type							6	6	6					18																	11689860		2059	4067	6126	SO:0001589	frameshift_variant	2774				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	g.chr18:11689860delA	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000334049.6:c.298delA	18.37:g.11689860delA	ENSP00000334051:p.Lys100fs						p.K100fs	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN			1	906	+			23					B7ZA26|Q86XU3	Frame_Shift_Del	DEL	ENST00000334049.6	37	c.298delA	CCDS11851.1																																																																																				0.697	GNAL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254560.2	NM_182978, NM_002071		2	4						2	4	---	---	---	---	-	11689860	A	-	11689860	7	5	439	1	0	1	0	1	0	0	0	0	6507	247	9	0	300	0	GNAL	18	11689860	Frame_Shift_Del	DEL	A	TCGA-XK-AAJR-01A-11D-A41K-08		11689860	66387388	34	30332											
CPLX4	339302	broad.mit.edu	37	chr18	56985545	56985545	+	Frame_Shift_Del	DEL	C	C	-																															cacttctcctcaatcatttgCttttgatactcctcatactc																										TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr18:56985545delC	ENST00000299721.3	-	1	336	c.150delG	c.(148-150)aagfs	p.K50fs	CPLX4_ENST00000587244.1_Frame_Shift_Del_p.K50fs	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	50					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)				autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CAATCATTTGCTTTTGATACT	0.408																																						ENST00000299721.3																			0				autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16						c.(148-150)aafs		complexin 4							232	210	218					18																	56985545		2203	4300	6503	SO:0001589	frameshift_variant	339302				exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding	g.chr18:56985545delC	AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.150delG	18.37:g.56985545delC	ENSP00000299721:p.Lys50fs					CPLX4_ENST00000587244.1_Frame_Shift_Del_p.K50fs	p.K50fs	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN			1	336	-		Colorectal(73;0.175)	50					F1T0L6	Frame_Shift_Del	DEL	ENST00000299721.3	37	c.150delG	CCDS11973.1																																																																																				0.408	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	NM_181654		22	135						22	135	---	---	---	---	-	56985545	C	-	56985545	7	5	439	1	0	1	0	1	0	0	0	0	3807	796	28	0	344	0	CPLX4	18	56985545	Frame_Shift_Del	DEL	C	TCGA-XK-AAJR-01A-11D-A41K-08	45295685	56985545	21091703	35	30333											
BEST2	54831	broad.mit.edu	37	chr19	12864107	12864107	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagggcagaagcgctacttCgagaagcttgtgatttattg	11	11	13	6	2	0	3	0	1	0	2	1	5	0	3	0	1	3	3	0	1	5	6			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr19:12864107C>T	ENST00000549706.1	+	3	510	c.186C>T	c.(184-186)ttC>ttT	p.F62F	BEST2_ENST00000042931.1_Silent_p.F62F|BEST2_ENST00000553030.1_Silent_p.F62F			Q8NFU1	BEST2_HUMAN	bestrophin 2	62					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						AGCGCTACTTCGAGAAGCTTG	0.557																																						ENST00000549706.1																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						c.(184-186)ttC>ttT		bestrophin 2							184	174	177					19																	12864107		2073	4193	6266	SO:0001819	synonymous_variant	54831				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity	g.chr19:12864107C>T	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17107	protein-coding gene	gene with protein product		607335	"vitelliform macular dystrophy 2-like 1"	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.186C>T	19.37:g.12864107C>T						BEST2_ENST00000042931.1_Silent_p.F62F|BEST2_ENST00000553030.1_Silent_p.F62F	p.F62F			Q8NFU1	BEST2_HUMAN			3	510	+			62					Q53YQ8|Q9NXP0	Silent	SNP	ENST00000549706.1	37	c.186C>T	CCDS42506.1																																																																																				0.557	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		9	94	0	0	0	1	0	9	94					T	12864107	C	T	12864107	2	4	439	1	0	0	0	0	0	0	0	1	1405	883	31	2		2	BEST2	19	12864107	Silent	SNP	C	TCGA-XK-AAJR-01A-11D-A41K-08		12864107	46264876	36	30334											
CYP2A7	1549	broad.mit.edu	37	chr19	41387540	41387540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggcttgctcgcctcgcccGctgaactcctcagcctggtc	3	10	11	17	3	1	1	1	1	0	0	5	1	2	1	4	2	3	3	4	2	1	1	rs112051160	byFrequency	TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr19:41387540G>T	ENST00000301146.4	-	2	838	c.297C>A	c.(295-297)agC>agA	p.S99R	CYP2A7_ENST00000291764.3_Intron|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	99						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGCCTCGCCCGCTGAACTCCT	0.642																																						ENST00000301146.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(295-297)agC>agA		cytochrome P450, family 2, subfamily A, polypeptide 7							62	55	57					19																	41387540		2203	4296	6499	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41387540G>T	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.297C>A	19.37:g.41387540G>T	ENSP00000301146:p.Ser99Arg					CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Intron	p.S99R	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		2	838	-			99					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.297C>A	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636860	0.29157	.	.	ENSG00000198077	ENST00000301146	T	0.70869	-0.52	2.18	-0.223	0.13118	.	0.500500	0.20985	U	0.082141	T	0.82162	0.4977	M	0.89030	3	0.20403	N	0.999901	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71520	-0.4568	10	0.87932	D	0	.	6.0043	0.19537	0.7356:0.0:0.2644:0.0	.	99;99	B7ZKR0;P20853	.;CP2A7_HUMAN	R	99	ENSP00000301146:S99R	ENSP00000301146:S99R	S	-	3	2	CYP2A7	46079380	0.000000	0.05858	0.788000	0.31933	0.443000	0.32047	-1.368000	0.02580	-0.272000	0.09259	0.184000	0.17185	AGC		0.642	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		3	33	1	0	1	1	1	3	33					T	41387540	G	T	41387540	3	4	439	1	0	0	0	0	1	0	0	0	4163	1078	38	5	1219	5	CYP2A7	19	41387540	Missense_Mutation	SNP	G	TCGA-XK-AAJR-01A-11D-A41K-08	28523433	41387540	17741443	37	30335											
ATP1A3	478	broad.mit.edu	37	chr19	42471428	42471428	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgcgcaggatgagttTgcggatttcgtcgtagacga	7	12	14	8	5	0	2	0	1	0	1	3	5	1	4	1	2	2	4	1	2	1	4			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr19:42471428T>C	ENST00000302102.5	-	22	3136	c.2986A>G	c.(2986-2988)Aaa>Gaa	p.K996E	ATP1A3_ENST00000543770.1_Missense_Mutation_p.K1007E|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K966E|ATP1A3_ENST00000545399.1_Missense_Mutation_p.K1009E	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	996					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGGATGAGTTTGCGGATTTCG	0.662																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(3025-3027)Aaa>Gaa		ATPase, Na+/K+ transporting, alpha 3 polypeptide							40	40	40					19																	42471428		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42471428T>C		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2986A>G	19.37:g.42471428T>C	ENSP00000302397:p.Lys996Glu					ATP1A3_ENST00000302102.5_Missense_Mutation_p.K996E|ATP1A3_ENST00000543770.1_Missense_Mutation_p.K1007E|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K966E	p.K1009E	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			22	3178	-			996					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.3025A>G	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.305777	0.81247	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18	3.32	3.32	0.38043	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97604	0.9215	H	0.98048	4.135	0.58432	D	0.999999	P;D;D;D	0.71674	0.651;0.992;0.998;0.993	P;D;D;D	0.77004	0.704;0.962;0.989;0.978	D	0.97429	1.0014	10	0.87932	D	0	.	9.9597	0.41688	0.0:0.0:0.0:1.0	.	1009;1007;996;996	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	E	996;996;1009;966;1007	ENSP00000302397:K996E;ENSP00000411503:K996E;ENSP00000444688:K1009E;ENSP00000437577:K1007E	ENSP00000302397:K996E	K	-	1	0	ATP1A3	47163268	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.747000	0.85070	1.537000	0.49254	0.379000	0.24179	AAA		0.662	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		4	24	0	0	0	1	0	4	24					C	42471428	T	C	42471428	3	2	439	1	0	0	0	0	1	0	0	0	1130	1821	63	4	63	4	ATP1A3	19	42471428	Missense_Mutation	SNP	T	TCGA-XK-AAJR-01A-11D-A41K-08	1083888	42471428	16657555	38	30336											
C21orf70	85395	broad.mit.edu	37	chr21	46396598	46396598	+	Frame_Shift_Del	DEL	G	G	-																															ggtctccattctttcagcgaGgaagaaaggacccggtttca																										TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr21:46396598delG	ENST00000291634.6	+	6	621	c.573delG	c.(571-573)gagfs	p.E193fs	FAM207A_ENST00000397826.3_Frame_Shift_Del_p.E178fs|FAM207A_ENST00000479127.1_3'UTR	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	193																	CTTTCAGCGAGGAAGAAAGGA	0.632																																						ENST00000291634.6																			0											c.(571-573)gafs		family with sequence similarity 207, member A							17	16	17					21																	46396598		2179	4279	6458	SO:0001589	frameshift_variant	85395							g.chr21:46396598delG		CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 70"	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.573delG	21.37:g.46396598delG	ENSP00000291634:p.Glu193fs					FAM207A_ENST00000479127.1_3'UTR|FAM207A_ENST00000397826.3_Frame_Shift_Del_p.E178fs	p.E193fs	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN			6	621	+			193						Frame_Shift_Del	DEL	ENST00000291634.6	37	c.573delG	CCDS13718.1																																																																																				0.632	FAM207A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206639.1	NM_058190		2	4						2	4	---	---	---	---	-	46396598	G	-	46396598	7	5	439	1	0	1	0	1	0	0	0	0	2133	991	35	0	595	0	C21orf70	21	46396598	Frame_Shift_Del	DEL	G	TCGA-XK-AAJR-01A-11D-A41K-08		46396598	1733297	39	30337											
TTLL8	164714	broad.mit.edu	37	chr22	50488626	50488626	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagcccttccttcgcagAgcggcccggaccaccgggta	7	5	11	18	4	0	1	0	0	0	1	2	2	1	2	6	3	2	2	6	3	1	3			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr22:50488626A>C	ENST00000266182.6	-	2	101	c.102T>G	c.(100-102)gcT>gcG	p.A34A	TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Silent_p.A34A			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	70					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TCCTTCGCAGAGCGGCCCGGA	0.483																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(100-102)gcT>gcG		tubulin tyrosine ligase-like family, member 8							34	36	35					22																	50488626		1938	4127	6065	SO:0001819	synonymous_variant	164714							g.chr22:50488626A>C			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.102T>G	22.37:g.50488626A>C						TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Silent_p.A34A	p.A34A						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	2	101	-		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)						B5MDV0	Silent	SNP	ENST00000266182.6	37	c.102T>G																																																																																					0.483	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		5	14	0	0	0	1	0	5	14					C	50488626	A	C	50488626	2	2	439	1	0	0	0	0	0	0	0	1	16730	291	11	5		5	TTLL8	22	50488626	Silent	SNP	A	TCGA-XK-AAJR-01A-11D-A41K-08		50488626	815940	40	30338											
CYSLTR1	10800	broad.mit.edu	37	chrX	77528836	77528836	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacctggcttttttctgTgtaaccaaattaatgttctg	11	16	6	8	0	2	0	0	0	2	0	2	0	2	0	2	1	2	3	2	1	4	6			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chrX:77528836T>G	ENST00000373304.3	-	3	700	c.408A>C	c.(406-408)acA>acC	p.T136T		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	136					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	CTTTTTTCTGTGTAACCAAAT	0.363																																						ENST00000373304.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(406-408)acA>acC		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)						65	58	60					X																	77528836		2202	4299	6501	SO:0001819	synonymous_variant	0				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77528836T>G	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"GPCR / Class A : Leukotriene receptors"	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.408A>C	X.37:g.77528836T>G							p.T136T	NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN			3	700	-			136					B2R954|D3DTE4|Q5JS94|Q8IV19	Silent	SNP	ENST00000373304.3	37	c.408A>C	CCDS14439.1																																																																																				0.363	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			14	13	0	0	0	1	0	14	13					G	77528836	T	G	77528836	2	3	439	1	0	0	0	0	0	0	0	1	4201	1683	59	5		5	CYSLTR1	23	77528836	Silent	SNP	T	TCGA-XK-AAJR-01A-11D-A41K-08		77528836	77741724	41	30339											
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	6	11	8	16	0	4	0	3	0	1	0	7	2	6	2	4	3	1	0	4	3	1	2			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										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)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				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						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229	245	240					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		5	152	0	0	0	1	0	5	152					A	140994960	G	A	140994960	2	1	439	1	0	0	0	0	0	0	0	1	9180	1364	48	3		3	MAGEC1	23	140994960	Silent	SNP	G	TCGA-XK-AAJR-01A-11D-A41K-08	63466124	140994960	14275600	42	30340											
RNPC3	55599	broad.mit.edu	37	chr1	104094378	104094378	+	Frame_Shift_Del	DEL	T	T	-																															gctagaccaaaacaagatccTaaggaaggaaaaagaaagtg																										TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr1:104094378delT	ENST00000533099.1	+	15	1766	c.1530delT	c.(1528-1530)cctfs	p.P510fs	AMY2B_ENST00000361355.4_5'Flank|RNPC3_ENST00000524631.1_Frame_Shift_Del_p.P509fs|RNPC3_ENST00000423855.2_Frame_Shift_Del_p.P510fs			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	510					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		AACAAGATCCTAAGGAAGGAA	0.254																																						ENST00000533099.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1528-1530)ccfs		RNA-binding region (RNP1, RRM) containing 3							17	15	16					1																	104094378		1742	3992	5734	SO:0001589	frameshift_variant	55599				mRNA processing	U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr1:104094378delT	AB058742, AY099329	CCDS781.1	1p21.1	2013-07-16			ENSG00000185946	ENSG00000185946		"RNA binding motif (RRM) containing"	18666	protein-coding gene	gene with protein product	"U11/U12 snRNP 65K"					14974681, 15146077	Standard	NM_017619		Approved	KIAA1839, FLJ20008, RBM40, SNRNP65	uc010oun.2	Q96LT9	OTTHUMG00000166613	ENST00000533099.1:c.1530delT	1.37:g.104094378delT	ENSP00000432886:p.Pro510fs					RNPC3_ENST00000524631.1_Frame_Shift_Del_p.P509fs|RNPC3_ENST00000423855.2_Frame_Shift_Del_p.P510fs	p.P510fs			Q96LT9	RBM40_HUMAN		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)	15	1766	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	510					A8K1C9|D3DT74|Q5TZ87|Q96FK7|Q96JI8|Q9NSU7|Q9NXX2	Frame_Shift_Del	DEL	ENST00000533099.1	37	c.1530delT	CCDS781.1																																																																																				0.254	RNPC3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390812.1	NM_017619		2	4						2	4	---	---	---	---	-	104094378	T	-	104094378	7	5	440	1	0	1	0	1	0	0	0	0	13508	1509	53	0	423	0	RNPC3	1	104094378	Frame_Shift_Del	DEL	T	TCGA-XK-AAJT-01A-11D-A41K-08		104094378	145156243	1	30341											
NGF	4803	broad.mit.edu	37	chr1	115829055	115829055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgggatgggatgatgacCgcttgctcctgtgagtcctg	7	11	15	8	1	0	4	0	3	0	1	2	6	2	6	3	2	1	2	3	2	0	1			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr1:115829055C>T	ENST00000369512.2	-	3	530	c.362G>A	c.(361-363)cGg>cAg	p.R121Q	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	121					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GGATGATGACCGCTTGCTCCT	0.587																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(361-363)cGg>cAg		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						66	56	60					1																	115829055		2203	4300	6503	SO:0001583	missense	4803				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	g.chr1:115829055C>T		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"Endogenous ligands"	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.362G>A	1.37:g.115829055C>T	ENSP00000358525:p.Arg121Gln					RP4-663N10.1_ENST00000425449.1_RNA	p.R121Q	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		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)	3	530	-	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)	121					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.362G>A	CCDS882.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139500	0.77775	.	.	ENSG00000134259	ENST00000369512	T	0.73258	-0.73	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.82751	0.5105	M	0.82823	2.61	0.52501	D	0.999954	D	0.89917	1.0	D	0.69654	0.965	D	0.85343	0.1097	10	0.87932	D	0	-19.7714	17.7237	0.88359	0.0:1.0:0.0:0.0	.	121	P01138	NGF_HUMAN	Q	121	ENSP00000358525:R121Q	ENSP00000358525:R121Q	R	-	2	0	NGF	115630578	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	4.603000	0.61105	2.548000	0.85928	0.313000	0.20887	CGG		0.587	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		4	25	0	0	0	1	0	4	25					T	115829055	C	T	115829055	3	4	440	1	0	0	0	0	1	0	0	0	10395	652	23	2	367	2	NGF	1	115829055	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08	11734677	115829055	133421566	2	30342											
GJA5	2702	broad.mit.edu	37	chr1	147230323	147230323	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggccttactaagacgtcGcttgtcactatgatagccat	9	12	9	11	2	1	2	1	1	0	1	2	2	1	2	2	1	2	2	2	1	4	5			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr1:147230323G>A	ENST00000271348.2	-	2	1185	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	GJA5_ENST00000369237.1_Nonsense_Mutation_p.R342*|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	342					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			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)			CTAAGACGTCGCTTGTCACTA	0.547																																						ENST00000271348.2																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(1024-1026)Cga>Tga		gap junction protein, alpha 5, 40kDa							121	111	114					1																	147230323		2203	4300	6503	SO:0001587	stop_gained	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230323G>A		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.1024C>T	1.37:g.147230323G>A	ENSP00000271348:p.Arg342*					RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Nonsense_Mutation_p.R342*	p.R342*	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	1185	-	all_hematologic(923;0.0276)		342					Q5T3B6|Q5U0N6	Nonsense_Mutation	SNP	ENST00000271348.2	37	c.1024C>T	CCDS929.1	.	.	.	.	.	.	.	.	.	.	G	37	6.431687	0.97564	.	.	ENSG00000143140	ENST00000271348;ENST00000369237	.	.	.	5.38	4.47	0.54385	.	0.525983	0.18729	N	0.132788	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2797	0.66202	0.0708:0.0:0.9292:0.0	.	.	.	.	X	342	.	ENSP00000271348:R342X	R	-	1	2	GJA5	145696947	1.000000	0.71417	0.888000	0.34837	0.876000	0.50452	5.919000	0.70005	1.509000	0.48786	0.655000	0.94253	CGA		0.547	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		19	46	0	0	0	1	0	19	46					A	147230323	G	A	147230323	4	1	440	1	0	0	0	0	0	1	0	0	6404	1095	38	1	56	1	GJA5	1	147230323	Nonsense_Mutation	SNP	G	TCGA-XK-AAJT-01A-11D-A41K-08	31401268	147230323	102020298	3	30343											
HMCN1	83872	broad.mit.edu	37	chr1	186105941	186105941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctatttcctgggatgaccGggttaacgtgttgtccaaca	8	13	10	10	2	1	1	0	1	1	0	3	2	3	2	3	2	2	2	3	2	3	4	rs374051668		TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr1:186105941G>A	ENST00000271588.4	+	87	13683	c.13454G>A	c.(13453-13455)cGg>cAg	p.R4485Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4485Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4485	Ig-like C2-type 44.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			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						TGGGATGACCGGGTTAACGTG	0.433																																						ENST00000271588.4																			0				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						c.(13453-13455)cGg>cAg		hemicentin 1							107	111	110					1																	186105941		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186105941G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13454G>A	1.37:g.186105941G>A	ENSP00000271588:p.Arg4485Gln					HMCN1_ENST00000367492.2_Missense_Mutation_p.R4485Q	p.R4485Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			87	13683	+			4485			Ig-like C2-type 44.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.13454G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967589	0.74131	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.37411	1.2;1.2	5.19	5.19	0.71726	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055113	0.64402	D	0.000001	T	0.63674	0.2531	M	0.80508	2.5	0.47547	D	0.999454	D	0.89917	1.0	D	0.79784	0.993	T	0.64032	-0.6502	10	0.41790	T	0.15	.	19.08	0.93178	0.0:0.0:1.0:0.0	.	4485	Q96RW7	HMCN1_HUMAN	Q	4485	ENSP00000271588:R4485Q;ENSP00000356462:R4485Q	ENSP00000271588:R4485Q	R	+	2	0	HMCN1	184372564	1.000000	0.71417	0.891000	0.34965	0.283000	0.27025	6.001000	0.70685	2.587000	0.87381	0.655000	0.94253	CGG		0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		13	36	0	0	0	1	0	13	36					A	186105941	G	A	186105941	3	1	440	1	0	0	0	0	1	0	0	0	7220	1116	39	2	13800	2	HMCN1	1	186105941	Missense_Mutation	SNP	G	TCGA-XK-AAJT-01A-11D-A41K-08	38875618	186105941	63144680	4	30344											
RYR2	6262	broad.mit.edu	37	chr1	237947268	237947268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actacgaagagttcgtcaaaCgcttccacgaacctgcgaag	13	7	9	12	5	1	1	1	0	0	1	3	4	2	1	2	0	4	2	2	0	5	3			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr1:237947268C>T	ENST00000366574.2	+	90	12573	c.12256C>T	c.(12256-12258)Cgc>Tgc	p.R4086C	RYR2_ENST00000360064.6_Missense_Mutation_p.R4092C|RYR2_ENST00000542537.1_Missense_Mutation_p.R4070C|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4086					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTCGTCAAACGCTTCCACGA	0.507																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12256-12258)Cgc>Tgc		ryanodine receptor 2 (cardiac)							43	43	43					1																	237947268		2016	4192	6208	SO:0001583	missense	6262				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	g.chr1:237947268C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12256C>T	1.37:g.237947268C>T	ENSP00000355533:p.Arg4086Cys					RYR2_ENST00000542537.1_Missense_Mutation_p.R4070C|RYR2_ENST00000360064.6_Missense_Mutation_p.R4092C	p.R4086C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12573	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4086					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12256C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870440	0.51588	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.82526	-0.18;-1.62;-0.18	5.85	2.8	0.32819	EF-hand-like domain (1);	0.000000	0.64402	D	0.000012	D	0.89128	0.6627	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.88969	0.3399	10	0.87932	D	0	.	14.8034	0.69932	0.4126:0.5874:0.0:0.0	.	1060;4086	B4DGV4;Q92736	.;RYR2_HUMAN	C	4086;4092;4070;1060	ENSP00000355533:R4086C;ENSP00000353174:R4092C;ENSP00000443798:R4070C	ENSP00000353174:R4092C	R	+	1	0	RYR2	236013891	1.000000	0.71417	0.198000	0.23420	0.416000	0.31233	1.971000	0.40530	0.294000	0.22547	0.655000	0.94253	CGC		0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		12	17	0	0	0	1	0	12	17					T	237947268	C	T	237947268	3	4	440	1	0	0	0	0	1	0	0	0	13769	536	19	1	12614	1	RYR2	1	237947268	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08	51841327	237947268	11303353	5	30345											
C2orf71	388939	broad.mit.edu	37	chr2	29296438	29296438	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagatctcccccaacagctgGctgatctcctcaaagcacag	11	7	8	15	0	3	2	1	1	2	1	5	3	3	2	3	1	3	3	3	1	2	0			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr2:29296438G>A	ENST00000331664.5	-	1	689	c.690C>T	c.(688-690)agC>agT	p.S230S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	230					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCAACAGCTGGCTGATCTCCT	0.557																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(688-690)agC>agT		chromosome 2 open reading frame 71							71	75	74					2																	29296438		2057	4201	6258	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29296438G>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.690C>T	2.37:g.29296438G>A							p.S230S	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	689	-			230						Silent	SNP	ENST00000331664.5	37	c.690C>T	CCDS42669.1																																																																																				0.557	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		24	57	0	0	0	1	0	24	57					A	29296438	G	A	29296438	2	1	440	1	0	0	0	0	0	0	0	1	2191	1194	42	3		3	C2orf71	2	29296438	Silent	SNP	G	TCGA-XK-AAJT-01A-11D-A41K-08		29296438	213902935	6	30346											
PLEKHH2	130271	broad.mit.edu	37	chr2	43926922	43926922	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgccacagatggtggcatCtcccagaattctggggctcc	7	11	11	12	0	2	2	0	0	2	2	4	2	3	2	3	4	1	2	3	4	1	2			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr2:43926922C>G	ENST00000282406.4	+	8	935	c.825C>G	c.(823-825)atC>atG	p.I275M		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	275					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATGGTGGCATCTCCCAGAATT	0.502																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(823-825)atC>atG		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							78	81	80					2																	43926922		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43926922C>G	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.825C>G	2.37:g.43926922C>G	ENSP00000282406:p.Ile275Met						p.I275M	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			8	935	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	275					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.825C>G	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	2.510	-0.313194	0.05422	.	.	ENSG00000152527	ENST00000282406	T	0.72615	-0.67	5.84	-11.7	0.00046	.	1.579480	0.03269	N	0.184490	T	0.46092	0.1375	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.39603	-0.9606	10	0.27785	T	0.31	2.1862	13.2676	0.60144	0.1331:0.3312:0.5357:0.0	.	275;275	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	M	275	ENSP00000282406:I275M	ENSP00000282406:I275M	I	+	3	3	PLEKHH2	43780426	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.854000	0.04299	-2.783000	0.00359	-0.976000	0.02587	ATC		0.502	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		6	31	0	0	0	1	0	6	31					G	43926922	C	G	43926922	3	3	440	1	0	0	0	0	1	0	0	0	12077	903	32	5	851	5	PLEKHH2	2	43926922	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08	14630484	43926922	199272451	7	30347											
MRPL19	9801	broad.mit.edu	37	chr2	75881964	75881964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttgctatacttacgagatgCccttcctgaatatagcactt	10	14	6	11	1	0	2	0	1	0	1	1	3	1	2	2	0	5	2	2	0	6	8			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr2:75881964C>T	ENST00000393909.2	+	5	603	c.578C>T	c.(577-579)gCc>gTc	p.A193V	MRPL19_ENST00000409374.1_Missense_Mutation_p.A193V|MRPL19_ENST00000358788.6_Intron	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	193					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						TTACGAGATGCCCTTCCTGAA	0.398																																						ENST00000393909.2																			0				kidney(1)|large_intestine(1)|lung(6)	8						c.(577-579)gCc>gTc		mitochondrial ribosomal protein L19							127	118	121					2																	75881964		1870	4102	5972	SO:0001583	missense	9801				translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr2:75881964C>T	AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"Mitochondrial ribosomal proteins / large subunits"	14052	protein-coding gene	gene with protein product	"39S ribosomal protein L19"	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.578C>T	2.37:g.75881964C>T	ENSP00000377486:p.Ala193Val					MRPL19_ENST00000358788.6_Intron|MRPL19_ENST00000409374.1_Missense_Mutation_p.A193V	p.A193V	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN			5	603	+			193					Q53TX9|Q96Q52	Missense_Mutation	SNP	ENST00000393909.2	37	c.578C>T	CCDS1960.2	.	.	.	.	.	.	.	.	.	.	C	32	5.141240	0.94560	.	.	ENSG00000115364	ENST00000393909;ENST00000409374	.	.	.	5.18	5.18	0.71444	Translation protein SH3-like (1);	0.000000	0.85682	D	0.000000	T	0.78444	0.4284	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80266	-0.1454	9	0.66056	D	0.02	-11.94	16.5515	0.84473	0.0:1.0:0.0:0.0	.	193	P49406	RM19_HUMAN	V	193	.	ENSP00000377486:A193V	A	+	2	0	MRPL19	75735472	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.438000	0.80431	2.582000	0.87167	0.563000	0.77884	GCC		0.398	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252256.1	NM_014763		3	46	0	0	0	1	0	3	46					T	75881964	C	T	75881964	3	4	440	1	0	0	0	0	1	0	0	0	9784	739	26	3	596	3	MRPL19	2	75881964	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08	31955042	75881964	167317409	8	30348											
WDSUB1	151525	broad.mit.edu	37	chr2	160105008	160105008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttcctcagcactttactaCgcagtcctagagattctgaa	10	14	6	11	1	2	2	1	1	1	1	4	3	4	2	2	0	3	2	2	0	4	7			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr2:160105008C>A	ENST00000409990.3	-	10	1404	c.1148G>T	c.(1147-1149)cGt>cTt	p.R383L	WDSUB1_ENST00000409124.1_Intron|WDSUB1_ENST00000358147.4_Missense_Mutation_p.R291L|WDSUB1_ENST00000392796.3_Missense_Mutation_p.R383L|WDSUB1_ENST00000359774.4_Missense_Mutation_p.R383L	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	383	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.						ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						CACTTTACTACGCAGTCCTAG	0.363																																						ENST00000409990.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						c.(1147-1149)cGt>cTt		WD repeat, sterile alpha motif and U-box domain containing 1							85	87	87					2																	160105008		2202	4300	6502	SO:0001583	missense	151525					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr2:160105008C>A	AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"WD repeat domain containing", "Sterile alpha motif (SAM) domain containing", "U-box domain containing"	26697	protein-coding gene	gene with protein product			"WD repeat and SAM domain containing 1", "WD repeat, SAM and U-box domain containing 1"	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.1148G>T	2.37:g.160105008C>A	ENSP00000387078:p.Arg383Leu					WDSUB1_ENST00000409124.1_Intron|WDSUB1_ENST00000392796.3_Missense_Mutation_p.R383L|WDSUB1_ENST00000359774.4_Missense_Mutation_p.R383L|WDSUB1_ENST00000358147.4_Missense_Mutation_p.R291L	p.R383L	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN			10	1404	-			383			SAM.		Q53TI9|Q8N6N8	Missense_Mutation	SNP	ENST00000409990.3	37	c.1148G>T	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016757	0.75161	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	5.97	4.19	0.49359	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.050565	0.85682	D	0.000000	D	0.95865	0.8654	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	0.973;1.0	P;D	0.76575	0.769;0.988	D	0.95888	0.8904	10	0.72032	D	0.01	.	12.8332	0.57759	0.0:0.8706:0.0:0.1294	.	291;383	Q8N9V3-2;Q8N9V3	.;WSDU1_HUMAN	L	383;291;383;383	ENSP00000352820:R383L;ENSP00000350866:R291L;ENSP00000376545:R383L;ENSP00000387078:R383L	ENSP00000350866:R291L	R	-	2	0	WDSUB1	159813254	1.000000	0.71417	0.967000	0.41034	0.947000	0.59692	7.422000	0.80217	0.877000	0.35895	-0.781000	0.03364	CGT		0.363	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528		3	49	1	0	1	1	1	3	49					A	160105008	C	A	160105008	3	1	440	1	0	0	0	0	1	0	0	0	17338	536	19	5	290	5	WDSUB1	2	160105008	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08	84223044	160105008	83094365	9	30349											
PDK1	5163	broad.mit.edu	37	chr2	173451073	173451073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcaactacatgtattcaaCtgcaccaagacctcgtgttg	11	13	6	11	1	2	1	2	0	0	1	3	1	2	1	2	0	4	3	2	0	5	5			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr2:173451073C>G	ENST00000282077.3	+	9	1195	c.1013C>G	c.(1012-1014)aCt>aGt	p.T338S	PDK1_ENST00000392571.2_Missense_Mutation_p.T358S|PDK1_ENST00000544863.1_Missense_Mutation_p.T183S|PDK1_ENST00000410055.1_Missense_Mutation_p.T338S|PDK1_ENST00000543905.1_Missense_Mutation_p.T262S			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	338	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			ATGTATTCAACTGCACCAAGA	0.453									Autosomal Dominant Polycystic Kidney Disease																													ENST00000410055.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16						c.(1012-1014)aCt>aGt		pyruvate dehydrogenase kinase, isozyme 1							133	113	120					2																	173451073		2203	4300	6503	SO:0001583	missense	5163	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr2:173451073C>G	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"pyruvate dehydrogenase kinase, isoenzyme 1"			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.1013C>G	2.37:g.173451073C>G	ENSP00000282077:p.Thr338Ser					PDK1_ENST00000392571.2_Missense_Mutation_p.T358S|PDK1_ENST00000282077.2_Missense_Mutation_p.T338S|PDK1_ENST00000543905.1_Missense_Mutation_p.T262S|PDK1_ENST00000544863.1_Missense_Mutation_p.T183S	p.T338S	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.12)		9	1113	+			338			Histidine kinase.		B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	ENST00000282077.3	37	c.1013C>G	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991909	0.93106	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.3	5.3	0.74995	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.78285	0.4259	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82587	-0.0383	10	0.72032	D	0.01	-15.3591	18.9633	0.92685	0.0:1.0:0.0:0.0	.	338;358	Q15118;E9PD65	PDK1_HUMAN;.	S	262;183;338;358;338	ENSP00000438567:T262S;ENSP00000437502:T183S;ENSP00000282077:T338S;ENSP00000376352:T358S;ENSP00000386985:T338S	ENSP00000282077:T338S	T	+	2	0	PDK1	173159319	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	7.746000	0.85057	2.485000	0.83878	0.557000	0.71058	ACT		0.453	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610		8	27	0	0	0	1	0	8	27					G	173451073	C	G	173451073	3	3	440	1	0	0	0	0	1	0	0	0	11675	565	20	5	1047	5	PDK1	2	173451073	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08	13346065	173451073	69748300	10	30350											
STAB1	23166	broad.mit.edu	37	chr3	52548185	52548185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcctacaccatctttgtgCccaccaaccgctccctggag	7	9	7	18	1	1	0	0	0	1	0	2	1	2	1	6	1	4	1	6	1	2	2			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr3:52548185C>T	ENST00000321725.6	+	33	3578	c.3502C>T	c.(3502-3504)Ccc>Tcc	p.P1168S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1168	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			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)		CATCTTTGTGCCCACCAACCG	0.622																																						ENST00000321725.6																			0				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						c.(3502-3504)Ccc>Tcc		stabilin 1							77	77	77					3																	52548185		2203	4300	6503	SO:0001583	missense	23166				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	g.chr3:52548185C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3502C>T	3.37:g.52548185C>T	ENSP00000312946:p.Pro1168Ser						p.P1168S	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		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)	33	3578	+			1168			FAS1 4.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.3502C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497904	0.85069	.	.	ENSG00000010327	ENST00000321725	D	0.99880	-7.45	5.23	5.23	0.72850	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.77486	2.375	0.50313	D	0.999867	D	0.89917	1.0	D	0.97110	1.0	D	0.96420	0.9311	10	0.51188	T	0.08	.	14.3264	0.66523	0.0:1.0:0.0:0.0	.	1168	Q9NY15	STAB1_HUMAN	S	1168	ENSP00000312946:P1168S	ENSP00000312946:P1168S	P	+	1	0	STAB1	52523225	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.416000	0.59815	2.453000	0.82957	0.561000	0.74099	CCC		0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		4	45	0	0	0	1	0	4	45					T	52548185	C	T	52548185	3	4	440	1	0	0	0	0	1	0	0	0	15236	739	26	3	3632	3	STAB1	3	52548185	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08		52548185	145474245	11	30351											
ADAMTS9	56999	broad.mit.edu	37	chr3	64601793	64601793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagtagatgtccaatgtgCggtaacccaagccacactgg	12	7	10	12	1	0	1	0	0	0	1	1	1	1	1	3	2	3	2	3	2	4	2	rs113699218	byFrequency	TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr3:64601793C>T	ENST00000498707.1	-	20	3209	c.2867G>A	c.(2866-2868)cGc>cAc	p.R956H	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R928H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	956	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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)		GTCCAATGTGCGGTAACCCAA	0.458																																						ENST00000498707.1																			0				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						c.(2866-2868)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 9		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	204	199	201		2867	5.7	1	3	dbSNP_132	201	0,8600		0,0,4300	yes	missense	ADAMTS9	NM_182920.1	29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	956/1936	64601793	3,13003	2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64601793C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2867G>A	3.37:g.64601793C>T	ENSP00000418735:p.Arg956His					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R928H	p.R956H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	20	3209	-		Lung NSC(201;0.00682)	956			TSP type-1 3.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.2867G>A	CCDS2903.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	23.1|23.1	4.377339|4.377339	0.82682|0.82682	6.81E-4|6.81E-4	0.0|0.0	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.63913	.|-0.07;0.14	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79137|0.79137	0.4395|0.4395	M|M	0.82630|0.82630	2.6|2.6	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.999;0.999;0.998;0.999	.|D;D;D;D	.|0.66497	.|0.932;0.944;0.939;0.932	T|T	0.81963|0.81963	-0.0692|-0.0692	5|10	.|0.87932	.|D	.|0	.|.	14.003|14.003	0.64444|0.64444	0.0:0.9279:0.0:0.0721|0.0:0.9279:0.0:0.0721	.|.	.|928;956;956;956	.|B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.|.;.;.;ATS9_HUMAN	T|H	12|928;956	.|ENSP00000295903:R928H;ENSP00000418735:R956H	.|ENSP00000295903:R928H	A|R	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64576833|64576833	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.678000|0.678000	0.39670|0.39670	5.720000|5.720000	0.68470|0.68470	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.458	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			6	164	0	0	0	1	0	6	164					T	64601793	C	T	64601793	3	4	440	1	0	0	0	0	1	0	0	0	273	768	27	1	3020	1	ADAMTS9	3	64601793	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08	12053608	64601793	133420637	12	30352											
RG9MTD1	54931	broad.mit.edu	37	chr3	101284665	101284665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atatttacaatgggaaattgGtaacaaaaatctcaccttag	17	12	6	6	0	1	0	1	0	1	0	2	1	1	1	1	2	2	1	1	2	8	6			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr3:101284665G>T	ENST00000309922.6	+	2	1194	c.1040G>T	c.(1039-1041)gGt>gTt	p.G347V		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	347	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										TGGGAAATTGGTAACAAAAAT	0.393																																						ENST00000309922.6																			0											c.(1039-1041)gGt>gTt		tRNA methyltransferase 10 homolog C (S. cerevisiae)							48	48	48					3																	101284665		1828	4072	5900	SO:0001583	missense	54931							g.chr3:101284665G>T	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 1"	615423	"RNA (guanine-9-) methyltransferase domain containing 1"	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.1040G>T	3.37:g.101284665G>T	ENSP00000312356:p.Gly347Val						p.G347V	NM_017819.2	NP_060289.2					2	1194	+								Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	ENST00000309922.6	37	c.1040G>T	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904048	0.52333	.	.	ENSG00000174173	ENST00000309922	T	0.21191	2.02	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63646	-0.6590	10	0.72032	D	0.01	-11.6172	20.5948	0.99439	0.0:0.0:1.0:0.0	.	347	Q7L0Y3	MRRP1_HUMAN	V	347	ENSP00000312356:G347V	ENSP00000312356:G347V	G	+	2	0	RG9MTD1	102767355	1.000000	0.71417	0.791000	0.31998	0.032000	0.12392	9.383000	0.97214	2.873000	0.98535	0.563000	0.77884	GGT		0.393	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		14	15	1	0	3.27435e-08	1	3.47081e-08	14	15					T	101284665	G	T	101284665	3	4	440	1	0	0	0	0	1	0	0	0	13271	1261	44	5	1042	5	RG9MTD1	3	101284665	Missense_Mutation	SNP	G	TCGA-XK-AAJT-01A-11D-A41K-08	36682872	101284665	96737765	13	30353											
PCOLCE2	26577	broad.mit.edu	37	chr3	142567247	142567247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacatccacaaagtcatagCggcacaggttgtcactctcg	12	8	8	13	2	3	0	2	0	1	0	5	0	4	0	1	2	1	2	1	2	2	2			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr3:142567247C>T	ENST00000295992.3	-	3	566	c.260G>A	c.(259-261)cGc>cAc	p.R87H	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.R87H	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	87	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.R87H(2)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						AAAGTCATAGCGGCACAGGTT	0.517																																						ENST00000295992.3																			2	Substitution - Missense(2)	p.R87H(2)	large_intestine(2)	NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(259-261)cGc>cAc		procollagen C-endopeptidase enhancer 2							88	85	86					3																	142567247		2203	4300	6503	SO:0001583	missense	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142567247C>T	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.260G>A	3.37:g.142567247C>T	ENSP00000295992:p.Arg87His					PCOLCE2_ENST00000485766.1_Missense_Mutation_p.R87H	p.R87H	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN			3	566	-			87			CUB 1.		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	c.260G>A	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397113	0.83120	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.28895	1.59;1.59	5.1	5.1	0.69264	CUB (5);	0.000000	0.85682	D	0.000000	T	0.54078	0.1836	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.49698	-0.8912	10	0.42905	T	0.14	-15.5768	18.7404	0.91772	0.0:1.0:0.0:0.0	.	87	Q9UKZ9	PCOC2_HUMAN	H	87	ENSP00000295992:R87H;ENSP00000419842:R87H	ENSP00000295992:R87H	R	-	2	0	PCOLCE2	144049937	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.666000	0.90696	0.644000	0.83932	CGC		0.517	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		4	109	0	0	0	1	0	4	109					T	142567247	C	T	142567247	3	4	440	1	0	0	0	0	1	0	0	0	11595	768	27	1	1015	1	PCOLCE2	3	142567247	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08	41282582	142567247	55455183	14	30354											
ZBBX	79740	broad.mit.edu	37	chr3	167031818	167031818	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagacaaagatttaagaagTctctctttcccttatcgaaa	14	13	5	9	1	3	3	1	0	2	3	6	4	4	3	1	0	0	0	1	0	5	4			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr3:167031818T>C	ENST00000392766.2	-	16	1701	c.1361A>G	c.(1360-1362)gAc>gGc	p.D454G	ZBBX_ENST00000392764.1_Missense_Mutation_p.D425G|ZBBX_ENST00000392767.2_Missense_Mutation_p.D454G|ZBBX_ENST00000469220.1_5'Flank|ZBBX_ENST00000455345.2_Missense_Mutation_p.D454G|ZBBX_ENST00000307529.5_Missense_Mutation_p.D454G	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	454						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			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						ATTTAAGAAGTCTCTCTTTCC	0.328																																						ENST00000392766.2																			0				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						c.(1360-1362)gAc>gGc		zinc finger, B-box domain containing							131	122	125					3																	167031818		1823	4080	5903	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167031818T>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1361A>G	3.37:g.167031818T>C	ENSP00000376519:p.Asp454Gly					ZBBX_ENST00000392764.1_Missense_Mutation_p.D425G|ZBBX_ENST00000455345.2_Missense_Mutation_p.D454G|ZBBX_ENST00000307529.5_Missense_Mutation_p.D454G|ZBBX_ENST00000392767.2_Missense_Mutation_p.D454G	p.D454G	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			16	1701	-			454					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1361A>G	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	5.982	0.365118	0.11296	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.12569	2.85;2.85;2.83;2.83;2.67	5.14	3.95	0.45737	.	0.607736	0.16173	N	0.226202	T	0.16041	0.0386	L	0.53249	1.67	0.22947	N	0.998523	P;P	0.44946	0.846;0.761	B;B	0.43445	0.42;0.24	T	0.08911	-1.0699	10	0.54805	T	0.06	-1.5651	8.3006	0.32012	0.1764:0.0:0.0:0.8236	.	454;454	A8MT70-2;A8MT70	.;ZBBX_HUMAN	G	454;454;454;454;425	ENSP00000376519:D454G;ENSP00000376520:D454G;ENSP00000390232:D454G;ENSP00000305065:D454G;ENSP00000376517:D425G	ENSP00000305065:D454G	D	-	2	0	ZBBX	168514512	0.014000	0.17966	0.056000	0.19401	0.004000	0.04260	0.846000	0.27682	0.856000	0.35383	0.533000	0.62120	GAC		0.328	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		4	175	0	0	0	1	0	4	175					C	167031818	T	C	167031818	3	2	440	1	0	0	0	0	1	0	0	0	17513	1667	58	4	1065	4	ZBBX	3	167031818	Missense_Mutation	SNP	T	TCGA-XK-AAJT-01A-11D-A41K-08	24464571	167031818	30990612	15	30355											
PRDM8	56978	broad.mit.edu	37	chr4	81123237	81123237	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacgggggcggcggcggCggtggcaaagaccagcagca	9	1	19	12	5	0	1	0	0	0	1	0	2	0	1	2	7	2	3	2	7	1	0			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr4:81123237C>T	ENST00000504452.1	+	8	1460	c.621C>T	c.(619-621)ggC>ggT	p.G207G	PRDM8_ENST00000339711.4_Silent_p.G207G|PRDM8_ENST00000415738.2_Silent_p.G207G			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	207	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcggcggcggcggtggcaaag	0.657											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(619-621)ggC>ggT		PR domain containing 8							24	31	29					4																	81123237		2009	4173	6182	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123237C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.621C>T	4.37:g.81123237C>T			OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000415738.2_Silent_p.G207G|PRDM8_ENST00000504452.1_Silent_p.G207G	p.G207G	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1852	+			207			Gly-rich.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.621C>T	CCDS43243.1																																																																																				0.657	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			4	85	0	0	0	1	0	4	85					T	81123237	C	T	81123237	2	4	440	1	0	0	0	0	0	0	0	1	12462	755	27	1		1	PRDM8	4	81123237	Silent	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08		81123237	110031039	16	30356											
PCDH10	57575	broad.mit.edu	37	chr4	134075498	134075498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagctcagctatctagttGacagacctcgccgagttaac	11	9	9	12	2	2	3	1	1	1	2	3	4	2	3	2	0	3	4	2	0	3	4			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr4:134075498G>A	ENST00000264360.5	+	2	3494	c.2668G>A	c.(2668-2670)Gac>Aac	p.D890N		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	890					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		CTATCTAGTTGACAGACCTCG	0.373																																						ENST00000264360.4																			0				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						c.(2668-2670)Gac>Aac		protocadherin 10							78	76	77					4																	134075498		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134075498G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2668G>A	4.37:g.134075498G>A	ENSP00000264360:p.Asp890Asn						p.D890N	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	2	3494	+			890					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2668G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030432	0.54790	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52754	0.65	5.95	5.95	0.96441	.	0.000000	0.45361	D	0.000374	T	0.32194	0.0821	N	0.03000	-0.44	0.80722	D	1	P	0.46395	0.877	B	0.43360	0.417	T	0.40308	-0.9570	10	0.48119	T	0.1	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	890	Q9P2E7	PCD10_HUMAN	N	890	ENSP00000264360:D890N	ENSP00000264360:D890N	D	+	1	0	PCDH10	134294948	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	GAC		0.373	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		13	34	0	0	0	1	0	13	34					A	134075498	G	A	134075498	3	1	440	1	0	0	0	0	1	0	0	0	11507	1290	45	3	2734	3	PCDH10	4	134075498	Missense_Mutation	SNP	G	TCGA-XK-AAJT-01A-11D-A41K-08	52952261	134075498	57078778	17	30357											
GABRB2	2561	broad.mit.edu	37	chr5	160972256	160972256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgacttcagaaaccatatCgatgctggcaatgtcaatgt	13	12	8	8	1	2	2	2	1	0	1	3	3	2	2	1	1	2	2	1	1	4	3	rs375286847		TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr5:160972256C>T	ENST00000393959.1	-	3	213	c.214G>A	c.(214-216)Gat>Aat	p.D72N	GABRB2_ENST00000274547.2_Missense_Mutation_p.D72N|GABRB2_ENST00000517901.1_Missense_Mutation_p.D9N|GABRB2_ENST00000520240.1_Missense_Mutation_p.D72N|GABRB2_ENST00000353437.6_Missense_Mutation_p.D72N|GABRB2_ENST00000517547.1_5'UTR|GABRB2_ENST00000523730.1_5'Flank			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	72					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			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)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAAACCATATCGATGCTGGCA	0.458																																						ENST00000274547.2																			0				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						c.(214-216)Gat>Aat		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	72	64	67		214,214	5.4	1	5		67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GABRB2	NM_000813.2,NM_021911.2	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	72/475,72/513	160972256	1,13005	2203	4300	6503	SO:0001583	missense	0				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	g.chr5:160972256C>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.214G>A	5.37:g.160972256C>T	ENSP00000377531:p.Asp72Asn					GABRB2_ENST00000393959.1_Missense_Mutation_p.D72N|GABRB2_ENST00000353437.6_Missense_Mutation_p.D72N|GABRB2_ENST00000517547.1_5'UTR|GABRB2_ENST00000520240.1_Missense_Mutation_p.D72N|GABRB2_ENST00000517901.1_Missense_Mutation_p.D9N	p.D72N	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	431	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	72					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.214G>A	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039620	0.75732	0.0	1.16E-4	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	5.45	5.45	0.79879	Neurotransmitter-gated ion-channel ligand-binding (3);	0.164936	0.53938	D	0.000057	D	0.84288	0.5439	M	0.79614	2.46	0.80722	D	1	P;D;P;P	0.61080	0.5;0.989;0.562;0.566	B;P;B;B	0.50659	0.243;0.647;0.26;0.249	D	0.85180	0.1003	10	0.49607	T	0.09	.	19.6451	0.95773	0.0:1.0:0.0:0.0	.	72;9;72;72	B7Z4P0;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	N	72;72;72;72;9	ENSP00000377531:D72N;ENSP00000274547:D72N;ENSP00000274546:D72N;ENSP00000429320:D72N;ENSP00000430532:D9N	ENSP00000274547:D72N	D	-	1	0	GABRB2	160904834	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	7.628000	0.83189	2.720000	0.93068	0.655000	0.94253	GAT		0.458	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			4	19	0	0	0	1	0	4	19					T	160972256	C	T	160972256	3	4	440	1	0	0	0	0	1	0	0	0	6167	884	31	2	1356	2	GABRB2	5	160972256	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08		160972256	19943004	18	30358											
NUDCD2	134492	broad.mit.edu	37	chr5	162886970	162886970	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcggcacctgaacttcaatGaacacctcctccaaggtctg	10	8	9	14	1	2	2	1	2	1	0	4	2	4	2	4	3	2	1	4	3	4	1			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr5:162886970G>A	ENST00000302764.4	-	1	176	c.87C>T	c.(85-87)ttC>ttT	p.F29F	HMMR_ENST00000358715.3_5'Flank|NUDCD2_ENST00000519395.1_5'Flank|HMMR_ENST00000393915.4_5'Flank|NUDCD2_ENST00000517501.1_Silent_p.F29F|HMMR_ENST00000432118.2_5'Flank|HMMR_ENST00000353866.3_5'Flank	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	29	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	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)		GAACTTCAATGAACACCTCCT	0.667																																						ENST00000302764.4																			0				large_intestine(1)|prostate(1)	2						c.(85-87)ttC>ttT		NudC domain containing 2							79	94	89					5																	162886970		2203	4300	6503	SO:0001819	synonymous_variant	134492					intracellular		g.chr5:162886970G>A	BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.87C>T	5.37:g.162886970G>A						NUDCD2_ENST00000517501.1_Silent_p.F29F	p.F29F	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	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)	1	176	-	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	29			CS.		B2R4V0	Silent	SNP	ENST00000302764.4	37	c.87C>T	CCDS4361.1																																																																																				0.667	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252747.3	NM_145266		45	102	0	0	0	1	0	45	102					A	162886970	G	A	162886970	2	1	440	1	0	0	0	0	0	0	0	1	10723	1281	45	3		3	NUDCD2	5	162886970	Silent	SNP	G	TCGA-XK-AAJT-01A-11D-A41K-08	1914714	162886970	18028290	19	30359											
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184299	26184299	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgctcgaccatcacctcCagggagatccagacggccgt	10	5	11	15	4	1	2	1	0	0	2	4	4	3	2	5	2	1	1	5	2	1	0			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr6:26184299C>T	ENST00000356530.3	+	1	342	c.276C>T	c.(274-276)tcC>tcT	p.S92S		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	92					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						CCATCACCTCCAGGGAGATCC	0.617																																						ENST00000356530.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(274-276)tcC>tcT		histone cluster 1, H2be							66	71	69					6																	26184299		2202	4297	6499	SO:0001819	synonymous_variant	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184299C>T	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"Histones / Replication-dependent"	4753	protein-coding gene	gene with protein product		602805	"H2B histone family, member H", "histone 1, H2be"	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.276C>T	6.37:g.26184299C>T							p.S92S	NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN			1	342	+			92					P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000356530.3	37	c.276C>T	CCDS4588.1																																																																																				0.617	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523		4	88	0	0	0	1	0	4	88					T	26184299	C	T	26184299	2	4	440	1	0	0	0	0	0	0	0	1	7144	581	21	3		3	HIST1H2BE	6	26184299	Silent	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08		26184299	144930768	20	30360											
MRPL14	64928	broad.mit.edu	37	chr6	44084306	44084306	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgatggctcagcactctgcTtacacaggtgaaggggcccc	8	8	13	12	0	2	2	1	2	1	0	2	2	2	2	2	4	3	3	2	4	2	1			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr6:44084306T>C	ENST00000372014.3	-	2	174	c.43A>G	c.(43-45)Agc>Ggc	p.S15G		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	15					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	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)			AGCACTCTGCTTACACAGGTG	0.463																																						ENST00000372014.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(43-45)Agc>Ggc		mitochondrial ribosomal protein L14							97	102	100					6																	44084306		2203	4300	6503	SO:0001583	missense	64928				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:44084306T>C	AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"Mitochondrial ribosomal proteins / large subunits"	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	ENST00000372014.3:c.43A>G	6.37:g.44084306T>C	ENSP00000361084:p.Ser15Gly						p.S15G	NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)		2	174	-	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		15					B2R575|Q96Q72	Missense_Mutation	SNP	ENST00000372014.3	37	c.43A>G	CCDS34460.1	.	.	.	.	.	.	.	.	.	.	T	2.913	-0.224926	0.06022	.	.	ENSG00000180992	ENST00000372014	.	.	.	5.03	-0.13	0.13498	.	0.608035	0.18092	N	0.151969	T	0.09024	0.0223	L	0.27053	0.805	0.09310	N	1	B	0.19817	0.039	B	0.17433	0.018	T	0.36089	-0.9762	9	0.23891	T	0.37	-9.1529	6.4622	0.21962	0.0:0.2219:0.1247:0.6534	.	15	Q6P1L8	RM14_HUMAN	G	15	.	ENSP00000361084:S15G	S	-	1	0	MRPL14	44192284	0.001000	0.12720	0.002000	0.10522	0.000000	0.00434	0.051000	0.14141	-0.371000	0.08004	-1.255000	0.01485	AGC		0.463	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040707.1	NM_032111		21	78	0	0	0	1	0	21	78					C	44084306	T	C	44084306	3	2	440	1	0	0	0	0	1	0	0	0	9779	1609	56	4	402	4	MRPL14	6	44084306	Missense_Mutation	SNP	T	TCGA-XK-AAJT-01A-11D-A41K-08	17900007	44084306	127030761	21	30361											
CRHR2	1395	broad.mit.edu	37	chr7	30721796	30721796	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcgcctcccgcctacccTcggggtccaggggtggcccc	2	6	13	20	4	0	0	0	0	0	0	4	0	2	0	7	5	1	1	7	5	1	1			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr7:30721796T>C	ENST00000471646.1	-	1	518	c.101A>G	c.(100-102)gAg>gGg	p.E34G	CRHR2_ENST00000348438.4_Intron|CRHR2_ENST00000341843.4_Intron|CRHR2_ENST00000506074.2_Missense_Mutation_p.E34G	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	34					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCGCCTACCCTCGGGGTCCAG	0.741																																						ENST00000471646.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(100-102)gAg>gGg		corticotropin releasing hormone receptor 2							7	9	9					7																	30721796		2163	4243	6406	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30721796T>C		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.101A>G	7.37:g.30721796T>C	ENSP00000418722:p.Glu34Gly					CRHR2_ENST00000341843.4_Intron|CRHR2_ENST00000506074.2_Missense_Mutation_p.E34G|CRHR2_ENST00000348438.4_Intron	p.E34G	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN			1	518	-			34					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.101A>G	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.689382	0.48097	.	.	ENSG00000106113	ENST00000471646;ENST00000506074	T;T	0.55413	0.52;0.52	4.45	4.45	0.53987	GPCR, family 2, extracellular hormone receptor domain (1);	.	.	.	.	T	0.31765	0.0807	N	0.08118	0	0.22366	N	0.999164	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.11446	-1.0587	9	0.31617	T	0.26	.	10.3273	0.43801	0.0:0.0:0.0:1.0	.	34;34;34	B3SXT0;B3SXS6;Q13324	.;.;CRFR2_HUMAN	G	34	ENSP00000418722:E34G;ENSP00000426498:E34G	ENSP00000418722:E34G	E	-	2	0	CRHR2	30688321	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.854000	0.27791	2.007000	0.58848	0.460000	0.39030	GAG		0.741	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			4	7	0	0	0	1	0	4	7					C	30721796	T	C	30721796	3	2	440	1	0	0	0	0	1	0	0	0	3872	1551	54	4	1182	4	CRHR2	7	30721796	Missense_Mutation	SNP	T	TCGA-XK-AAJT-01A-11D-A41K-08		30721796	128416867	22	30362											
PEBP4	157310	broad.mit.edu	37	chr8	22675245	22675245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcaccaggatataggttgCgccctgtaacacatgtaccg	11	9	9	12	2	1	0	1	0	0	0	1	1	1	1	3	2	3	3	3	2	4	5			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr8:22675245C>T	ENST00000256404.6	-	4	353	c.262G>A	c.(262-264)Gca>Aca	p.A88T	PEBP4_ENST00000521284.1_5'UTR	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	88						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		ATATAGGTTGCGCCCTGTAAC	0.493																																						ENST00000256404.6																			0				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10						c.(262-264)Gca>Aca		phosphatidylethanolamine-binding protein 4							112	109	110					8																	22675245		1954	4153	6107	SO:0001583	missense	157310					lysosome		g.chr8:22675245C>T	BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"cousin-of-RKIP 1 protein"	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.262G>A	8.37:g.22675245C>T	ENSP00000256404:p.Ala88Thr					PEBP4_ENST00000521284.1_5'UTR	p.A88T	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)	4	353	-		Prostate(55;0.0453)|Breast(100;0.103)	88					Q5EVA1|Q8WW74	Missense_Mutation	SNP	ENST00000256404.6	37	c.262G>A	CCDS43724.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.170684	0.38315	.	.	ENSG00000134020	ENST00000256404	T	0.44083	0.93	5.09	1.77	0.24775	.	0.865430	0.10004	N	0.728092	T	0.24236	0.0587	L	0.31845	0.965	0.09310	N	1	P	0.49307	0.922	B	0.36666	0.23	T	0.12451	-1.0547	10	0.35671	T	0.21	-3.6312	3.0701	0.06227	0.48:0.3641:0.0:0.1559	.	88	Q96S96	PEBP4_HUMAN	T	88	ENSP00000256404:A88T	ENSP00000256404:A88T	A	-	1	0	PEBP4	22731190	0.001000	0.12720	0.006000	0.13384	0.181000	0.23173	0.395000	0.20850	0.524000	0.28502	-1.014000	0.02459	GCA		0.493	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375141.2	NM_144962		3	58	0	0	0	1	0	3	58					T	22675245	C	T	22675245	3	4	440	1	0	0	0	0	1	0	0	0	11714	768	27	1	437	1	PEBP4	8	22675245	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08		22675245	123688777	23	30363											
C8orf84	157869	broad.mit.edu	37	chr8	73979646	73979646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccgaacttttttccaagttCcttgacaccgaggattacca	10	12	7	12	2	0	1	0	1	0	0	2	4	2	2	5	1	2	1	5	1	3	6			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr8:73979646C>T	ENST00000297354.6	-	5	929	c.725G>A	c.(724-726)gGa>gAa	p.G242E	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	242					immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										TTTCCAAGTTCCTTGACACCG	0.368																																						ENST00000297354.6																			0											c.(724-726)gGa>gAa		somatomedin B and thrombospondin, type 1 domain containing							104	100	102					8																	73979646		1839	4094	5933	SO:0001583	missense	157869				immune response	extracellular region	polysaccharide binding|scavenger receptor activity	g.chr8:73979646C>T		CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"RPE spondin", "rpe-spondin"		"chromosome 8 open reading frame 84"	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.725G>A	8.37:g.73979646C>T	ENSP00000297354:p.Gly242Glu					SBSPON_ENST00000519697.1_5'UTR	p.G242E	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN			5	929	-			242					A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	c.725G>A	CCDS43747.2	.	.	.	.	.	.	.	.	.	.	C	31	5.098837	0.94197	.	.	ENSG00000164764	ENST00000297354	T	0.22945	1.93	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.59321	0.2185	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62539	-0.6833	10	0.87932	D	0	-18.978	20.1224	0.97967	0.0:1.0:0.0:0.0	.	242	Q8IVN8	RPESP_HUMAN	E	242	ENSP00000297354:G242E	ENSP00000297354:G242E	G	-	2	0	C8orf84	74142200	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.574000	0.74014	2.846000	0.97976	0.644000	0.83932	GGA		0.368	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2	NM_153225		50	38	0	0	0	1	0	50	38					T	73979646	C	T	73979646	3	4	440	1	0	0	0	0	1	0	0	0	2440	855	30	3	73	3	C8orf84	8	73979646	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08	51304401	73979646	72384376	24	30364											
PLEC	5339	broad.mit.edu	37	chr8	144992095	144992096	+	Frame_Shift_Ins	INS	-	-	TA																															cgcctgcgcctccaggagctINScaaaggctgtgccggggcgg																										TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr8:144992095_144992096insTA	ENST00000322810.4	-	32	12473_12474	c.12304_12305insTA	c.(12304-12306)gagfs	p.E4102fs	PLEC_ENST00000436759.2_Frame_Shift_Ins_p.E3992fs|PLEC_ENST00000398774.2_Frame_Shift_Ins_p.E3933fs|PLEC_ENST00000356346.3_Frame_Shift_Ins_p.E3951fs|PLEC_ENST00000354958.2_Frame_Shift_Ins_p.E3943fs|PLEC_ENST00000345136.3_Frame_Shift_Ins_p.E3965fs|PLEC_ENST00000527096.1_Frame_Shift_Ins_p.E3988fs|PLEC_ENST00000354589.3_Frame_Shift_Ins_p.E3965fs|PLEC_ENST00000357649.2_Frame_Shift_Ins_p.E3969fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4102	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCCAGGAGCTCAAAGGCTGTG	0.639																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12304-12306)gctfs		plectin																																				SO:0001589	frameshift_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144992095_144992096insTA	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12304_12305insTA	8.37:g.144992095_144992096insTA	ENSP00000323856:p.Glu4102fs					PLEC_ENST00000527096.1_Frame_Shift_Ins_p.A3988fs|PLEC_ENST00000345136.3_Frame_Shift_Ins_p.A3965fs|PLEC_ENST00000354958.2_Frame_Shift_Ins_p.A3943fs|PLEC_ENST00000357649.2_Frame_Shift_Ins_p.A3969fs|PLEC_ENST00000436759.2_Frame_Shift_Ins_p.A3992fs|PLEC_ENST00000356346.3_Frame_Shift_Ins_p.A3951fs|PLEC_ENST00000398774.2_Frame_Shift_Ins_p.A3933fs|PLEC_ENST00000354589.3_Frame_Shift_Ins_p.A3965fs	p.A4102fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	12473_12474	-			4102			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Frame_Shift_Ins	INS	ENST00000322810.4	37	c.12304_12305insTA	CCDS43772.1																																																																																				0.639	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		8	30						8	30	---	---	---	---	TA	144992096	-	TA	144992095	7	5	440	1	0	1	1	0	0	0	0	0	12052	1551	54	0	1753	0	PLEC	8	144992095	Frame_Shift_Ins	INS	-	TCGA-XK-AAJT-01A-11D-A41K-08	71012449	144992095	1371927	25	30365											
DCAF10	79269	broad.mit.edu	37	chr9	37842147	37842147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaatagcactatgggatCtgagaaaattgaacaccaaa	18	8	7	8	0	1	2	0	2	1	1	1	4	1	3	1	1	3	1	1	1	8	4			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr9:37842147C>A	ENST00000377724.3	+	3	1080	c.715C>A	c.(715-717)Ctg>Atg	p.L239M	RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000242323.7_Missense_Mutation_p.L239M	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	239					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						ACTATGGGATCTGAGAAAATT	0.378																																						ENST00000242323.7																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						c.(715-717)Ctg>Atg		DDB1 and CUL4 associated factor 10							162	143	149					9																	37842147		2203	4300	6503	SO:0001583	missense	79269					CUL4 RING ubiquitin ligase complex		g.chr9:37842147C>A	BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	23686	protein-coding gene	gene with protein product			"WD repeat domain 32"	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.715C>A	9.37:g.37842147C>A	ENSP00000366953:p.Leu239Met					RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000377724.3_Missense_Mutation_p.L239M	p.L239M			Q5QP82	DCA10_HUMAN			3	789	+			239					A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Missense_Mutation	SNP	ENST00000377724.3	37	c.715C>A	CCDS6613.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932241	0.73442	.	.	ENSG00000122741	ENST00000377724;ENST00000242323	T;T	0.01705	4.68;4.68	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.05777	0.0151	L	0.37750	1.13	0.58432	D	0.999998	D;D	0.71674	0.969;0.998	P;P	0.62014	0.648;0.897	T	0.46871	-0.9160	10	0.51188	T	0.08	.	16.8749	0.86050	0.0:1.0:0.0:0.0	.	239;239	Q5QP82-2;Q5QP82	.;DCA10_HUMAN	M	239	ENSP00000366953:L239M;ENSP00000242323:L239M	ENSP00000242323:L239M	L	+	1	2	DCAF10	37832147	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.844000	0.48246	2.591000	0.87537	0.655000	0.94253	CTG		0.378	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2	NM_024345		21	26	1	0	2.89027e-11	1	3.12621e-11	21	26					A	37842147	C	A	37842147	3	1	440	1	0	0	0	0	1	0	0	0	4261	912	32	5	725	5	DCAF10	9	37842147	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08		37842147	103371284	26	30366											
ZNF33A	7581	broad.mit.edu	37	chr10	38343641	38343641	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatgaagttttgaaaaatAggaacacactgagtcatcat	19	10	7	5	0	2	3	2	3	0	0	2	4	2	4	0	1	1	1	0	1	7	3			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr10:38343641A>G	ENST00000458705.2	+	5	744	c.586A>G	c.(586-588)Agg>Ggg	p.R196G	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.R197G|ZNF33A_ENST00000432900.2_Missense_Mutation_p.R203G|ZNF33A_ENST00000307441.9_Missense_Mutation_p.R196G			Q06730	ZN33A_HUMAN	zinc finger protein 33A	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TTTGAAAAATAGGAACACACT	0.343																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(589-591)Agg>Ggg		zinc finger protein 33A							74	73	74					10																	38343641		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38343641A>G	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.586A>G	10.37:g.38343641A>G	ENSP00000387713:p.Arg196Gly					ZNF33A_ENST00000458705.2_Missense_Mutation_p.R196G|ZNF33A_ENST00000307441.9_Missense_Mutation_p.R196G|ZNF33A_ENST00000432900.2_Missense_Mutation_p.R203G|ZNF33A_ENST00000469037.2_Intron	p.R197G	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			5	767	+			196					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.589A>G	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.556038	0.00910	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.05382	3.47;3.46;3.45;3.45	1.68	-1.01	0.10169	.	1.059130	0.07481	N	0.903965	T	0.01870	0.0059	N	0.01505	-0.83	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.44467	-0.9326	10	0.02654	T	1	.	6.1451	0.20280	0.3508:0.0:0.6491:0.0	.	203;196;197	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	G	197;203;196;196	ENSP00000363747:R197G;ENSP00000402467:R203G;ENSP00000387713:R196G;ENSP00000304268:R196G	ENSP00000304268:R196G	R	+	1	2	ZNF33A	38383647	0.891000	0.30450	0.001000	0.08648	0.022000	0.10575	0.939000	0.28978	-0.265000	0.09352	0.377000	0.23210	AGG		0.343	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		21	28	0	0	0	1	0	21	28					G	38343641	A	G	38343641	3	3	440	1	0	0	0	0	1	0	0	0	17851	411	15	4	603	4	ZNF33A	10	38343641	Missense_Mutation	SNP	A	TCGA-XK-AAJT-01A-11D-A41K-08		38343641	97191106	27	30367											
PPYR1	5540	broad.mit.edu	37	chr10	47086901	47086901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgccaggattccgtggacGtgatggtcttcatcgtcact	7	13	11	10	3	3	1	2	1	1	0	5	3	4	3	2	3	1	0	2	3	0	3	rs148605550	byFrequency	TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr10:47086901G>A	ENST00000395716.1	+	2	203	c.118G>A	c.(118-120)Gtg>Atg	p.V40M	NPY4R_ENST00000374312.1_Missense_Mutation_p.V40M			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	40					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										TTCCGTGGACGTGATGGTCTT	0.532													g|||	2	0.000399361	8e-04	0.0014	5008	,	,		44946	0		0	False		,,,				2504	0					ENST00000374312.1																			0											c.(118-120)Gtg>Atg		neuropeptide Y receptor Y4		G	MET/VAL	6,4400	11.4+/-27.6	0,6,2197	223	196	205		118	-0.4	0	10	dbSNP_134	205	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PPYR1	NM_005972.4	21	0,8,6495	AA,AG,GG		0.0233,0.1362,0.0615	benign	40/376	47086901	8,12998	2203	4300	6503	SO:0001583	missense	0							g.chr10:47086901G>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.118G>A	10.37:g.47086901G>A	ENSP00000379066:p.Val40Met					NPY4R_ENST00000395716.1_Missense_Mutation_p.V40M	p.V40M	NM_005972.4	NP_005963.3					3	537	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.118G>A	CCDS31193.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	0.004	-2.332753	0.00227	0.001362	2.33E-4	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.38240	1.15;1.15	4.78	-0.372	0.12520	.	1.089070	0.06827	N	0.793310	T	0.11495	0.0280	N	0.02011	-0.69	0.09310	N	1	B	0.17268	0.021	B	0.09377	0.004	T	0.22068	-1.0227	10	0.18276	T	0.48	.	1.383	0.02234	0.267:0.3228:0.2531:0.1572	.	40	P50391	NPY4R_HUMAN	M	40	ENSP00000363431:V40M;ENSP00000379066:V40M	ENSP00000363431:V40M	V	+	1	0	PPYR1	46506907	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.082000	0.14847	-0.158000	0.11040	-2.367000	0.00236	GTG		0.532	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			17	76	0	0	0	1	0	17	76					A	47086901	G	A	47086901	3	1	440	1	0	0	0	0	1	0	0	0	12416	1145	40	1	120	1	PPYR1	10	47086901	Missense_Mutation	SNP	G	TCGA-XK-AAJT-01A-11D-A41K-08	8743260	47086901	88447846	28	30368											
OR52I2	143502	broad.mit.edu	37	chr11	4608686	4608686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgagcacatagctttggCcaggttagcatgtgctgacc	8	11	12	10	0	0	2	0	2	0	0	0	2	0	2	2	2	4	5	2	2	2	3			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr11:4608686C>T	ENST00000312614.4	+	1	666	c.644C>T	c.(643-645)gCc>gTc	p.A215V		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A215V(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGCTTTGGCCAGGTTAGCA	0.512																																						ENST00000312614.4																			1	Substitution - Missense(1)	p.A215V(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(643-645)gCc>gTc		olfactory receptor, family 52, subfamily I, member 2							188	180	183					11																	4608686		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608686C>T	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.644C>T	11.37:g.4608686C>T	ENSP00000308764:p.Ala215Val						p.A215V	NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	666	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	215					B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.644C>T	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531753	0.27387	.	.	ENSG00000226288	ENST00000312614	T	0.73047	-0.71	4.18	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.156467	0.29830	N	0.011084	T	0.55816	0.1944	L	0.38649	1.16	0.25562	N	0.986986	B	0.25105	0.118	B	0.27796	0.083	T	0.43310	-0.9399	10	0.33141	T	0.24	-8.131	6.4789	0.22051	0.0:0.6645:0.0:0.3355	.	215	Q8NH67	O52I2_HUMAN	V	215	ENSP00000308764:A215V	ENSP00000308764:A215V	A	+	2	0	OR52I2	4565262	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	-0.170000	0.09897	0.373000	0.24621	-0.149000	0.13747	GCC		0.512	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		4	114	0	0	0	1	0	4	114					T	4608686	C	T	4608686	3	4	440	1	0	0	0	0	1	0	0	0	11121	739	26	3	646	3	OR52I2	11	4608686	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08		4608686	130397830	29	30369											
SLC22A8	9376	broad.mit.edu	37	chr11	62761339	62761339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagccaatactgtcctcaCggtctgcaagtctgcagagg	10	8	10	13	1	3	1	1	0	2	1	4	1	4	1	2	2	4	2	2	2	3	1	rs200952770		TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr11:62761339C>T	ENST00000336232.2	-	9	1363	c.1228G>A	c.(1228-1230)Gtg>Atg	p.V410M	SLC22A8_ENST00000311438.8_Missense_Mutation_p.V410M|SLC22A8_ENST00000545207.1_Missense_Mutation_p.V319M|SLC22A8_ENST00000535878.1_Missense_Mutation_p.V287M|SLC22A8_ENST00000430500.2_Missense_Mutation_p.V410M|SLC22A8_ENST00000542795.1_5'Flank	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	410					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACTGTCCTCACGGTCTGCAAG	0.498																																						ENST00000336232.2																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1228-1230)Gtg>Atg		solute carrier family 22 (organic anion transporter), member 8		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4402		0,0,2201	82	77	78		1228,955,859,1228	-6.9	0	11		78	2,8594	2.2+/-6.3	0,2,4296	no	missense,missense,missense,missense	SLC22A8	NM_001184732.1,NM_001184733.1,NM_001184736.1,NM_004254.3	21,21,21,21	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	410/543,319/452,287/420,410/543	62761339	2,12996	2201	4298	6499	SO:0001583	missense	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62761339C>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1228G>A	11.37:g.62761339C>T	ENSP00000337335:p.Val410Met					SLC22A8_ENST00000535878.1_Missense_Mutation_p.V287M|SLC22A8_ENST00000311438.8_Missense_Mutation_p.V410M|SLC22A8_ENST00000545207.1_Missense_Mutation_p.V319M|SLC22A8_ENST00000430500.2_Missense_Mutation_p.V410M	p.V410M	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN			9	1363	-			410					B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.1228G>A	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	C	9.693	1.152329	0.21371	0.0	2.33E-4	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.89	-6.9	0.01655	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.680770	0.14182	N	0.335977	T	0.60444	0.2269	L	0.41906	1.305	0.09310	N	1	B;B	0.27286	0.144;0.174	B;B	0.32677	0.092;0.15	T	0.54234	-0.8324	10	0.72032	D	0.01	.	1.9749	0.03414	0.3408:0.3554:0.1283:0.1755	.	410;410	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	M	410;396;319;287;410;410	ENSP00000337335:V410M;ENSP00000441658:V319M;ENSP00000443368:V287M;ENSP00000311463:V410M;ENSP00000398548:V410M	ENSP00000311463:V410M	V	-	1	0	SLC22A8	62517915	0.000000	0.05858	0.014000	0.15608	0.476000	0.33039	-1.543000	0.02194	-0.687000	0.05162	-0.867000	0.03001	GTG		0.498	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		3	53	0	0	0	1	0	3	53					T	62761339	C	T	62761339	3	4	440	1	0	0	0	0	1	0	0	0	14460	536	19	1	412	1	SLC22A8	11	62761339	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08	58152653	62761339	72245177	30	30370											
NCAPD3	23310	broad.mit.edu	37	chr11	134054795	134054797	+	Splice_Site	DEL	CAC	CAC	-																															aagattctccagcagacactCaccagtcactttgtcccggg																										TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr11:134054795_134054797delCAC	ENST00000534548.2	-	18	2400		c.e18+1		RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3						mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGCAGACACTCACCAGTCACTTT	0.438																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.e18+1		non-SMC condensin II complex, subunit D3																																				SO:0001630	splice_region_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134054795_134054797delCAC	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2335+1GTG>-	11.37:g.134054795_134054797delCAC						RP11-700F16.3_ENST00000531710.1_RNA		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		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)	18	2400	-	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)						A6NFS2|Q4KMQ9	Splice_Site	DEL	ENST00000534548.2	37		CCDS31723.1																																																																																				0.438	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	Intron	119	246						119	246	---	---	---	---	-	134054797	CAC	-	134054795	8	5	440	1	0	1	0	1	0	0	1	0	10206	841	29	0		0	NCAPD3	11	134054795	Splice_Site	DEL	CAC	TCGA-XK-AAJT-01A-11D-A41K-08	71293456	134054795	951721	31	30371											
DGKA	1606	broad.mit.edu	37	chr12	56334139	56334139	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgaggaggctgtgagtccggGcgctgcgaccgctgtcagaa	7	6	17	11	5	1	2	1	1	0	1	2	5	2	3	2	3	1	3	2	3	1	0			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr12:56334139G>A	ENST00000331886.5	+	11	1294	c.840G>A	c.(838-840)ggG>ggA	p.G280G	DGKA_ENST00000551156.1_Silent_p.G280G|DGKA_ENST00000394147.1_Silent_p.G280G|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	280					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GTGAGTCCGGGCGCTGCGACC	0.587											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(838-840)ggG>ggA		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						117	112	114					12																	56334139		2203	4300	6503	SO:0001819	synonymous_variant	1606				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	g.chr12:56334139G>A	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.840G>A	12.37:g.56334139G>A			OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Silent_p.G280G|DGKA_ENST00000394147.1_Silent_p.G280G	p.G280G	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			11	1294	+			280					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Silent	SNP	ENST00000331886.5	37	c.840G>A	CCDS8896.1																																																																																				0.587	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			30	57	0	0	0	1	0	30	57					A	56334139	G	A	56334139	2	1	440	1	0	0	0	0	0	0	0	1	4465	1190	42	3		3	DGKA	12	56334139	Silent	SNP	G	TCGA-XK-AAJT-01A-11D-A41K-08		56334139	77517756	32	30372											
GJA3	2700	broad.mit.edu	37	chr13	20717018	20717018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccggccatgcgcaccctgCcgcggtcgtcccgcgacgag	4	4	13	20	8	0	0	0	0	0	0	2	2	1	0	6	2	2	1	6	2	0	0			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr13:20717018C>T	ENST00000241125.3	-	2	586	c.410G>A	c.(409-411)gGc>gAc	p.G137D		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	137					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		GCGCACCCTGCCGCGGTCGTC	0.627																																						ENST00000241125.3																			0				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(409-411)gGc>gAc		gap junction protein, alpha 3, 46kDa							17	17	17					13																	20717018		2199	4294	6493	SO:0001583	missense	2700				cell-cell signaling|visual perception	connexon complex|integral to membrane		g.chr13:20717018C>T	AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"Ion channels / Gap junction proteins (connexins)"	4277	protein-coding gene	gene with protein product	"connexin 46"	121015	"gap junction protein, alpha 3, 46kD (connexin 46)", "gap junction protein, alpha 3, 46kDa (connexin 46)"	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.410G>A	13.37:g.20717018C>T	ENSP00000241125:p.Gly137Asp						p.G137D	NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)	2	586	-		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	137					Q0VAB7|Q9H537	Missense_Mutation	SNP	ENST00000241125.3	37	c.410G>A	CCDS9289.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447186	0.63178	.	.	ENSG00000121743	ENST00000241125	D	0.97924	-4.61	5.1	5.1	0.69264	.	0.655352	0.10335	N	0.686980	D	0.98432	0.9478	M	0.76574	2.34	0.80722	D	1	D	0.64830	0.994	P	0.59115	0.852	D	0.97392	0.9990	10	0.42905	T	0.14	.	18.5107	0.90916	0.0:1.0:0.0:0.0	.	137	Q9Y6H8	CXA3_HUMAN	D	137	ENSP00000241125:G137D	ENSP00000241125:G137D	G	-	2	0	GJA3	19615018	1.000000	0.71417	0.408000	0.26446	0.060000	0.15804	5.984000	0.70548	2.387000	0.81309	0.561000	0.74099	GGC		0.627	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	NM_021954		5	5	0	0	0	1	0	5	5					T	20717018	C	T	20717018	3	4	440	1	0	0	0	0	1	0	0	0	6402	739	26	3	901	3	GJA3	13	20717018	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08		20717018	94452860	33	30373											
NFATC4	4776	broad.mit.edu	37	chr14	24837630	24837630	+	Frame_Shift_Del	DEL	G	G	-																															gaggcccccccgctgggcgcGgggggattgggggaaggtta																										TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr14:24837630delG	ENST00000250373.4	+	1	225	c.84delG	c.(82-84)gcgfs	p.A28fs	NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000556169.1_5'Flank|NFATC4_ENST00000554966.1_Frame_Shift_Del_p.A41fs|NFATC4_ENST00000554050.1_Frame_Shift_Del_p.A28fs|NFATC4_ENST00000554661.1_5'Flank|NFATC4_ENST00000554591.1_Frame_Shift_Del_p.A91fs|NFATC4_ENST00000557451.1_5'Flank|NFATC4_ENST00000556279.1_Frame_Shift_Del_p.A60fs|NFATC4_ENST00000555453.1_5'Flank|NFATC4_ENST00000422617.3_5'Flank|NFATC4_ENST00000424781.2_Frame_Shift_Del_p.A41fs|NFATC4_ENST00000553469.1_Frame_Shift_Del_p.A60fs|NFATC4_ENST00000554344.1_5'Flank|NFATC4_ENST00000553879.1_5'Flank|NFATC4_ENST00000555590.1_Frame_Shift_Del_p.A41fs|NFATC4_ENST00000539237.2_Frame_Shift_Del_p.A60fs|NFATC4_ENST00000553708.1_Frame_Shift_Del_p.A28fs|NFATC4_ENST00000413692.2_Frame_Shift_Del_p.A91fs	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	28					cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			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)		CGCTGGGCGCGGGGGGATTGG	0.657																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(271-273)gcfs		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							4	4	4					14																	24837630		2015	3948	5963	SO:0001589	frameshift_variant	4776				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	g.chr14:24837630delG	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.84delG	14.37:g.24837630delG	ENSP00000250373:p.Ala28fs					NFATC4_ENST00000250373.4_Frame_Shift_Del_p.A28fs|NFATC4_ENST00000424781.2_Frame_Shift_Del_p.A41fs|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000556279.1_Frame_Shift_Del_p.A60fs|NFATC4_ENST00000555590.1_Frame_Shift_Del_p.A41fs|NFATC4_ENST00000554966.1_Frame_Shift_Del_p.A41fs|NFATC4_ENST00000553469.1_Frame_Shift_Del_p.A60fs|NFATC4_ENST00000554050.1_Frame_Shift_Del_p.A28fs|NFATC4_ENST00000539237.2_Frame_Shift_Del_p.A60fs|NFATC4_ENST00000553708.1_Frame_Shift_Del_p.A28fs|NFATC4_ENST00000554591.1_Frame_Shift_Del_p.A91fs	p.A91fs	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	417	+			28			Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Frame_Shift_Del	DEL	ENST00000250373.4	37	c.273delG	CCDS9629.1																																																																																				0.657	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		2	4						2	4	---	---	---	---	-	24837630	G	-	24837630	7	5	440	1	0	1	0	1	0	0	0	0	10365	1103	39	0	279	0	NFATC4	14	24837630	Frame_Shift_Del	DEL	G	TCGA-XK-AAJT-01A-11D-A41K-08		24837630	82511910	34	30374											
LPCAT4	254531	broad.mit.edu	37	chr15	34653605	34653605	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccagctcctttacctgcTggaagtagccaaaggcacca	10	9	9	13	0	0	0	0	0	0	0	2	1	2	1	5	2	4	5	5	2	4	4			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr15:34653605T>A	ENST00000314891.6	-	11	1316	c.1139A>T	c.(1138-1140)cAg>cTg	p.Q380L		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	380					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CTTTACCTGCTGGAAGTAGCC	0.562																																						ENST00000314891.6																			0				NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						c.(1138-1140)cAg>cTg		lysophosphatidylcholine acyltransferase 4							84	82	83					15																	34653605		2201	4298	6499	SO:0001583	missense	254531				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding	g.chr15:34653605T>A	AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 2"	612039	"acyltransferase like 3", "1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.1139A>T	15.37:g.34653605T>A	ENSP00000317300:p.Gln380Leu						p.Q380L	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN			11	1316	-			380					A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Missense_Mutation	SNP	ENST00000314891.6	37	c.1139A>T	CCDS32191.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.423885	0.62733	.	.	ENSG00000176454	ENST00000314891	T	0.66995	-0.24	5.62	5.62	0.85841	EF-hand-like domain (1);	0.299341	0.38005	N	0.001852	T	0.53883	0.1824	N	0.22421	0.69	0.39309	D	0.965036	B	0.18166	0.026	B	0.15870	0.014	T	0.55704	-0.8099	10	0.87932	D	0	-6.742	13.3378	0.60528	0.0:0.0:0.0:1.0	.	380	Q643R3	LPCT4_HUMAN	L	380	ENSP00000317300:Q380L	ENSP00000317300:Q380L	Q	-	2	0	LPCAT4	32440897	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.725000	0.61979	2.144000	0.66660	0.454000	0.30748	CAG		0.562	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418028.2	NM_153613		18	53	0	0	0	1	0	18	53					A	34653605	T	A	34653605	3	1	440	1	0	0	0	0	1	0	0	0	8913	1580	55	5	451	5	LPCAT4	15	34653605	Missense_Mutation	SNP	T	TCGA-XK-AAJT-01A-11D-A41K-08		34653605	67877787	35	30375											
RFX7	64864	broad.mit.edu	37	chr15	56386857	56386857	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttattggagtgaatgcaaaCggattcctgcattcaacagg	12	11	10	8	1	1	1	1	1	0	0	2	3	2	3	1	3	4	2	1	3	4	4	rs373394346		TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr15:56386857C>T	ENST00000559447.2	-	9	3049	c.2778G>A	c.(2776-2778)ccG>ccA	p.P926P	RFX7_ENST00000317318.6_Silent_p.P1023P|RFX7_ENST00000422057.1_Silent_p.P926P|RFX7_ENST00000423270.1_Silent_p.P1023P			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	926					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGAATGCAAACGGATTCCTGC	0.498																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3067-3069)ccG>ccA		regulatory factor X, 7		C		1,3969		0,1,1984	87	86	86		3069	-4.4	1	15		86	2,8310		0,2,4154	no	coding-synonymous	RFX7	NM_022841.5		0,3,6138	TT,TC,CC		0.0241,0.0252,0.0244		1023/1461	56386857	3,12279	1985	4156	6141	SO:0001819	synonymous_variant	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56386857C>T			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2778G>A	15.37:g.56386857C>T						RFX7_ENST00000317318.6_Silent_p.P1023P|RFX7_ENST00000559447.2_Silent_p.P926P|RFX7_ENST00000422057.1_Silent_p.P926P	p.P1023P	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	3068	-			926					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	37	c.3069G>A																																																																																					0.498	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		13	29	0	0	0	1	0	13	29					T	56386857	C	T	56386857	2	4	440	1	0	0	0	0	0	0	0	1	13268	523	19	1		1	RFX7	15	56386857	Silent	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08	21733252	56386857	46144535	36	30376											
AGBL1	123624	broad.mit.edu	37	chr15	86838595	86838595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcccttggtgaccatcaCggccatgcctgagtccaaca	8	9	10	14	1	1	2	1	2	0	0	3	2	3	2	5	2	2	0	5	2	1	1	rs376945285		TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr15:86838595C>T	ENST00000441037.2	+	16	2287	c.2192C>T	c.(2191-2193)aCg>aTg	p.T731M	AGBL1_ENST00000421325.2_Missense_Mutation_p.T731M|AGBL1_ENST00000389298.3_Missense_Mutation_p.T462M|AGBL1-AS1_ENST00000566878.1_RNA|AGBL1-AS1_ENST00000564487.1_RNA	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	731					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			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						GTGACCATCACGGCCATGCCT	0.498																																						ENST00000441037.2																			0				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						c.(2191-2193)aCg>aTg		ATP/GTP binding protein-like 1		C	MET/THR	0,3996		0,0,1998	109	109	109		2192	5.4	1	15		109	2,8352		0,2,4175	no	missense	AGBL1	NM_152336.2	81	0,2,6173	TT,TC,CC		0.0239,0.0,0.0162	probably-damaging	731/1067	86838595	2,12348	1998	4177	6175	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86838595C>T	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2192C>T	15.37:g.86838595C>T	ENSP00000413001:p.Thr731Met					AGBL1_ENST00000421325.2_Missense_Mutation_p.T731M|AGBL1_ENST00000389298.3_Missense_Mutation_p.T462M	p.T731M	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			16	2287	+			731					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.2192C>T	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660748	0.88154	0.0	2.39E-4	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.13089	2.62;2.62	5.42	5.42	0.78866	Peptidase M14, carboxypeptidase A (1);	0.059511	0.64402	D	0.000005	T	0.50599	0.1625	H	0.94658	3.565	0.44807	D	0.997815	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.984	T	0.64127	-0.6480	10	0.87932	D	0	-13.2836	17.067	0.86562	0.0:1.0:0.0:0.0	.	430;462;731	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	M	760;731;462	ENSP00000397173:T731M;ENSP00000373949:T462M	ENSP00000373949:T462M	T	+	2	0	AGBL1	84639599	1.000000	0.71417	0.973000	0.42090	0.977000	0.68977	6.328000	0.72915	2.687000	0.91594	0.650000	0.86243	ACG		0.498	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		32	46	0	0	0	1	0	32	46					T	86838595	C	T	86838595	3	4	440	1	0	0	0	0	1	0	0	0	375	536	19	1	2250	1	AGBL1	15	86838595	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08	30451738	86838595	15692797	37	30377											
SYT17	51760	broad.mit.edu	37	chr16	19194989	19194989	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgactatttcaggaagttCgaaccccacctgtactccct	10	10	7	14	2	1	0	1	0	0	0	3	4	2	1	4	1	2	2	4	1	4	4			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr16:19194989C>T	ENST00000355377.2	+	5	869	c.471C>T	c.(469-471)ttC>ttT	p.F157F	SYT17_ENST00000568115.1_Silent_p.F96F|SYT17_ENST00000562711.2_Silent_p.F153F|SYT17_ENST00000562034.1_Silent_p.F96F	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	157					exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TCAGGAAGTTCGAACCCCACC	0.547																																						ENST00000562034.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						c.(286-288)ttC>ttT		synaptotagmin XVII							90	76	81					16																	19194989		2197	4300	6497	SO:0001819	synonymous_variant	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19194989C>T		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"Synaptotagmins"	24119	protein-coding gene	gene with protein product	"B/K protein"					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.471C>T	16.37:g.19194989C>T						SYT17_ENST00000355377.2_Silent_p.F157F|SYT17_ENST00000562711.2_Silent_p.F153F|SYT17_ENST00000568115.1_Silent_p.F96F	p.F96F			Q9BSW7	SYT17_HUMAN			3	4086	+			157					O43330|Q9NZ18	Silent	SNP	ENST00000355377.2	37	c.288C>T	CCDS10575.1																																																																																				0.547	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		3	46	0	0	0	1	0	3	46					T	19194989	C	T	19194989	2	4	440	1	0	0	0	0	0	0	0	1	15470	883	31	2		2	SYT17	16	19194989	Silent	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08		19194989	71159764	38	30378											
ABCC12	94160	broad.mit.edu	37	chr16	48158140	48158140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacctgtcctaggagagctGcaaggagggagctctttcca	9	10	12	10	0	1	1	0	0	1	1	3	4	3	3	3	3	4	3	3	3	3	3			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr16:48158140G>T	ENST00000311303.3	-	10	1916	c.1571C>A	c.(1570-1572)gCa>gAa	p.A524E	ABCC12_ENST00000448542.1_Missense_Mutation_p.A524E|ABCC12_ENST00000416054.1_Missense_Mutation_p.A524E	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	524	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TAGGAGAGCTGCAAGGAGGGA	0.517																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(1570-1572)gCa>gAa		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							249	231	237					16																	48158140		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48158140G>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1571C>A	16.37:g.48158140G>T	ENSP00000311030:p.Ala524Glu					ABCC12_ENST00000416054.1_Missense_Mutation_p.A524E|ABCC12_ENST00000448542.1_Missense_Mutation_p.A524E	p.A524E	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			10	1916	-		all_cancers(37;0.0474)|all_lung(18;0.047)	524			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.1571C>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154373	0.78114	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	D;D;D	0.93811	-3.29;-3.29;-3.29	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.122356	0.56097	D	0.000023	D	0.90390	0.6992	L	0.33753	1.03	0.44728	D	0.997721	P;B	0.36412	0.552;0.293	B;B	0.36766	0.209;0.232	D	0.90987	0.4832	10	0.87932	D	0	.	18.2251	0.89914	0.0:0.0:1.0:0.0	.	524;524	Q96J65-2;Q96J65	.;MRP9_HUMAN	E	524;524;466;524	ENSP00000311030:A524E;ENSP00000401855:A524E;ENSP00000413046:A524E	ENSP00000311030:A524E	A	-	2	0	ABCC12	46715641	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.084000	0.57650	2.583000	0.87209	0.650000	0.86243	GCA		0.517	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		4	124	1	0	2.56e-06	1	2.66039e-06	4	124					T	48158140	G	T	48158140	3	4	440	1	0	0	0	0	1	0	0	0	52	1319	46	5	2588	5	ABCC12	16	48158140	Missense_Mutation	SNP	G	TCGA-XK-AAJT-01A-11D-A41K-08	28963151	48158140	42196613	39	30379											
EVI2B	2124	broad.mit.edu	37	chr17	29632323	29632323	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgtttggtgttgtaggcaAgtggttgtccagcagaagta	8	14	15	4	0	0	1	0	0	0	1	1	1	1	1	1	3	1	8	1	3	4	6			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr17:29632323A>G	ENST00000330927.4	-	2	459	c.305T>C	c.(304-306)cTt>cCt	p.L102P	EVI2B_ENST00000544462.1_Missense_Mutation_p.L117P|NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.L102P|CTD-2370N5.3_ENST00000578584.1_3'UTR	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	102						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		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)		GTTGTAGGCAAGTGGTTGTCC	0.493																																						ENST00000330927.4																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(304-306)cTt>cCt		ecotropic viral integration site 2B							529	403	446					17																	29632323		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29632323A>G		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"CD molecules"	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.305T>C	17.37:g.29632323A>G	ENSP00000333779:p.Leu102Pro					CTD-2370N5.3_ENST00000578584.1_3'UTR|EVI2B_ENST00000544462.1_Missense_Mutation_p.L117P|EVI2B_ENST00000577894.1_Missense_Mutation_p.L102P|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	p.L102P	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN		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)	2	459	-		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)	102					B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.305T>C	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	A	8.867	0.948430	0.18356	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.51817	0.69;0.69	4.15	-2.04	0.07343	.	0.444855	0.16242	N	0.223115	T	0.31734	0.0806	L	0.38838	1.175	0.09310	N	0.999999	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.16660	-1.0395	10	0.33940	T	0.23	-4.2304	8.8759	0.35345	0.3978:0.0:0.6022:0.0	.	117;102	B7Z4A7;P34910	.;EVI2B_HUMAN	P	102;117	ENSP00000333779:L102P;ENSP00000439738:L117P	ENSP00000333779:L102P	L	-	2	0	EVI2B	26656449	0.000000	0.05858	0.012000	0.15200	0.231000	0.25187	-0.492000	0.06467	-0.407000	0.07576	0.459000	0.35465	CTT		0.493	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		48	92	0	0	0	1	0	48	92					G	29632323	A	G	29632323	3	3	440	1	0	0	0	0	1	0	0	0	5288	72	3	4	1045	4	EVI2B	17	29632323	Missense_Mutation	SNP	A	TCGA-XK-AAJT-01A-11D-A41K-08		29632323	51562887	40	30380											
ACCN1	40	broad.mit.edu	37	chr17	31355278	31355278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggcatgtgaaccatgcGgcagttgcagttttccacaa	10	10	10	11	1	0	1	0	1	0	0	1	1	1	1	3	2	3	5	3	2	2	3			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr17:31355278G>A	ENST00000359872.6	-	4	1728	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	ASIC2_ENST00000225823.2_Missense_Mutation_p.R374C|ASIC2_ENST00000448983.1_5'UTR	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	323					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	TGAACCATGCGGCAGTTGCAG	0.557																																						ENST00000225823.2																			0											c.(1120-1122)Cgc>Tgc		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						62	62	62					17																	31355278		2203	4300	6503	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31355278G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.967C>T	17.37:g.31355278G>A	ENSP00000352934:p.Arg323Cys					ASIC2_ENST00000359872.6_Missense_Mutation_p.R323C|ASIC2_ENST00000448983.1_5'UTR	p.R374C	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN			4	1992	-			323					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.1120C>T	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944115	0.73672	.	.	ENSG00000108684	ENST00000225823;ENST00000359872;ENST00000448983	T;T	0.66815	-0.23;-0.23	5.56	3.38	0.38709	.	0.154930	0.56097	D	0.000039	D	0.84329	0.5448	M	0.93678	3.445	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	D	0.83724	0.0194	10	0.39692	T	0.17	-20.5847	11.7812	0.52016	0.0:0.0:0.6903:0.3097	.	323;374	Q16515;E9PBX2	ACCN1_HUMAN;.	C	374;323;129	ENSP00000225823:R374C;ENSP00000352934:R323C	ENSP00000225823:R374C	R	-	1	0	ACCN1	28379391	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.570000	0.45981	0.249000	0.21456	0.591000	0.81541	CGC		0.557	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		7	25	0	0	0	1	0	7	25					A	31355278	G	A	31355278	3	1	440	1	0	0	0	0	1	0	0	0	128	1116	39	2	599	2	ACCN1	17	31355278	Missense_Mutation	SNP	G	TCGA-XK-AAJT-01A-11D-A41K-08	1722955	31355278	49839932	41	30381											
KCNH4	23415	broad.mit.edu	37	chr17	40321507	40321507	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggctacctcgttggcgtcGatgccgctgttgacggccca	5	9	13	14	5	0	1	0	1	0	0	2	2	0	1	3	3	2	4	3	3	1	3			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr17:40321507G>A	ENST00000264661.3	-	9	1910	c.1578C>T	c.(1576-1578)atC>atT	p.I526I	KCNH4_ENST00000607371.1_Silent_p.I526I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	526					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CGTTGGCGTCGATGCCGCTGT	0.637																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1576-1578)atC>atT		potassium voltage-gated channel, subfamily H (eag-related), member 4							68	66	67					17																	40321507		2203	4300	6503	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40321507G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1578C>T	17.37:g.40321507G>A						KCNH4_ENST00000607371.1_Silent_p.I526I	p.I526I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1910	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	526						Silent	SNP	ENST00000264661.3	37	c.1578C>T	CCDS11420.1																																																																																				0.637	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		9	25	0	0	0	1	0	9	25					A	40321507	G	A	40321507	2	1	440	1	0	0	0	0	0	0	0	1	8034	1048	37	2		2	KCNH4	17	40321507	Silent	SNP	G	TCGA-XK-AAJT-01A-11D-A41K-08	8966229	40321507	40873703	42	30382											
GATA6	2627	broad.mit.edu	37	chr18	19752073	19752075	+	In_Frame_Del	DEL	ACC	ACC	-																															gcggccgctgaacgggacgtAccaccaccaccaccaccacc																								rs587780342		TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr18:19752073_19752075delACC	ENST00000269216.3	+	2	1245_1247	c.968_970delACC	c.(967-972)taccac>tac	p.H333del	GATA6_ENST00000581694.1_In_Frame_Del_p.H333del	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	333	Poly-His.				blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			AACGGGACGTaccaccaccacca	0.749																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(967-972)tac>t		GATA binding protein 6				7,118,1445		1,0,5,26,66,687						2.8	1			1	3,218,2733		1,0,1,71,76,1328	no	codingComplex	GATA6	NM_005257.3		2,0,6,97,142,2015	A1A1,A1A2,A1R,A2A2,A2R,RR		7.4814,7.9618,7.6481				10,336,4178				SO:0001651	inframe_deletion	2627				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	g.chr18:19752073_19752075delACC	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"GATA zinc finger domain containing"	4174	protein-coding gene	gene with protein product		601656	"GATA-binding protein 6"			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.968_970delACC	18.37:g.19752082_19752084delACC	ENSP00000269216:p.His333del					GATA6_ENST00000581694.1_In_Frame_Del_p.YH323del	p.YH323del	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		2	1245_1247	+	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)		323					B0YJ17|P78327	In_Frame_Del	DEL	ENST00000269216.3	37	c.968_970delACC	CCDS11872.1																																																																																				0.749	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		3	5						3	5	---	---	---	---	-	19752075	ACC	-	19752073	7	5	440	1	0	1	0	1	0	0	0	0	6258	391	14	0	970	0	GATA6	18	19752073	In_Frame_Del	DEL	ACC	TCGA-XK-AAJT-01A-11D-A41K-08		19752073	58325175	43	30383											
PSG3	5671	broad.mit.edu	37	chr19	43233377	43233377	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttgtagtaatctgggggaTaaagagcttttgtcctgata	10	15	11	5	0	1	2	0	1	1	1	2	3	2	3	1	2	1	3	1	2	5	7			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr19:43233377T>A	ENST00000327495.5	-	5	1325	c.1141A>T	c.(1141-1143)Atc>Ttc	p.I381F	PSG3_ENST00000595140.1_Missense_Mutation_p.I381F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	381	Ig-like C2-type 3.			Missing (in Ref. 9). {ECO:0000305}.	defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				ATCTGGGGGATAAAGAGCTTT	0.458																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1141-1143)Atc>Ttc		pregnancy specific beta-1-glycoprotein 3							191	199	196					19																	43233377		2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43233377T>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.1141A>T	19.37:g.43233377T>A	ENSP00000332215:p.Ile381Phe					PSG3_ENST00000595140.1_Missense_Mutation_p.I381F	p.I381F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			5	1325	-		Prostate(69;0.00682)	381	Missing (in Ref. 9).		Ig-like C2-type 3.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.1141A>T	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	N	10.30	1.312910	0.23908	.	.	ENSG00000221826	ENST00000327495	T	0.50001	0.76	0.768	-0.45	0.12223	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58652	0.2137	M	0.66560	2.04	0.09310	N	1	D;P	0.76494	0.999;0.93	D;P	0.97110	1.0;0.861	T	0.47749	-0.9093	9	0.87932	D	0	.	2.9796	0.05949	0.0:0.3329:0.0:0.6671	.	381;381	P11464-2;Q16557	.;PSG3_HUMAN	F	381	ENSP00000332215:I381F	ENSP00000332215:I381F	I	-	1	0	PSG3	47925217	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	-0.558000	0.05978	-0.248000	0.09583	-0.563000	0.04171	ATC		0.458	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		17	188	0	0	0	1	0	17	188					A	43233377	T	A	43233377	3	1	440	1	0	0	0	0	1	0	0	0	12656	1406	49	5	153	5	PSG3	19	43233377	Missense_Mutation	SNP	T	TCGA-XK-AAJT-01A-11D-A41K-08		43233377	15895606	44	30384											
SYMPK	8189	broad.mit.edu	37	chr19	46347341	46347341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgaacatgggtctctggCgggcgatattggcaagggag	10	8	16	7	2	1	1	0	1	1	0	2	3	1	2	0	5	1	1	0	5	3	2			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr19:46347341C>A	ENST00000245934.7	-	8	1038	c.794G>T	c.(793-795)cGc>cTc	p.R265L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	265					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGGTCTCTGGCGGGCGATATT	0.582																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(793-795)cGc>cTc		symplekin							123	103	110					19																	46347341		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46347341C>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.794G>T	19.37:g.46347341C>A	ENSP00000245934:p.Arg265Leu						p.R265L	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	8	1038	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	265					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.794G>T	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	36	5.684976	0.96784	.	.	ENSG00000125755	ENST00000245934	T	0.31247	1.5	5.85	5.85	0.93711	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54983	0.1892	M	0.68593	2.085	0.80722	D	1	D;D	0.64830	0.994;0.984	D;P	0.68353	0.957;0.872	T	0.54296	-0.8315	10	0.72032	D	0.01	.	17.6674	0.88207	0.0:1.0:0.0:0.0	.	280;265	Q4LE61;Q92797	.;SYMPK_HUMAN	L	265	ENSP00000245934:R265L	ENSP00000245934:R265L	R	-	2	0	SYMPK	51039181	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.233000	0.78125	2.767000	0.95098	0.557000	0.71058	CGC		0.582	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		4	64	1	0	1	1	1	4	64					A	46347341	C	A	46347341	3	1	440	1	0	0	0	0	1	0	0	0	15436	768	27	5	3110	5	SYMPK	19	46347341	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08	3113964	46347341	12781642	45	30385											
RTEL1	51750	broad.mit.edu	37	chr20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcttctaccagtttgtgCggccccaccataagcagcag	9	8	10	14	1	1	0	0	0	1	0	1	0	1	0	4	2	4	4	4	2	2	4	rs398123018		TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr20:62324513C>T	ENST00000360203.5	+	30	3194	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000318100.4_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W					regulator of telomere elongation helicase 1											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)			CCAGTTTGTGCGGCCCCACCA	0.597																																						ENST00000318100.4																			0				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						c.(2869-2871)Cgg>Tgg		regulator of telomere elongation helicase 1							105	112	110					20																	62324513		2198	4293	6491	SO:0001583	missense	51750				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	g.chr20:62324513C>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2869C>T	20.37:g.62324513C>T	ENSP00000353332:p.Arg957Trp					RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W	p.R957W			Q9NZ71	RTEL1_HUMAN	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)		30	3696	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		957						Missense_Mutation	SNP	ENST00000360203.5	37	c.2869C>T		.	.	.	.	.	.	.	.	.	.	C	16.46	3.130295	0.56721	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.71581	2.175	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.991;0.995	T	0.09596	-1.0667	10	0.87932	D	0	-22.5328	16.6576	0.85232	0.0:1.0:0.0:0.0	.	981;202;957;957	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	W	957;957;981;957;202	ENSP00000359035:R957W;ENSP00000322287:R957W;ENSP00000424307:R981W;ENSP00000353332:R957W;ENSP00000359020:R202W	ENSP00000353332:R957W	R	+	1	2	AL353715.1	61794957	0.995000	0.38212	0.946000	0.38457	0.033000	0.12548	3.313000	0.51935	2.220000	0.72140	0.289000	0.19496	CGG		0.597	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		4	106	0	0	0	1	0	4	106					T	62324513	C	T	62324513	3	4	440	1	0	0	0	0	1	0	0	0	13720	759	27	1	2983	1	RTEL1	20	62324513	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08		62324513	701007	46	30386											
MICAL3	57553	broad.mit.edu	37	chr22	18368694	18368694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcattctcttcaaatttggCcagcagctgggtcgccatgt	7	12	10	12	2	2	0	1	0	1	0	4	0	2	0	2	2	2	3	2	2	1	3			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr22:18368694C>T	ENST00000441493.2	-	16	2543	c.2191G>A	c.(2191-2193)Gcc>Acc	p.A731T	MICAL3_ENST00000400561.2_Missense_Mutation_p.A731T|MICAL3_ENST00000585038.1_Missense_Mutation_p.A731T|MICAL3_ENST00000207726.7_Missense_Mutation_p.A731T|MICAL3_ENST00000383094.3_Missense_Mutation_p.A731T|MICAL3_ENST00000414725.2_Missense_Mutation_p.A731T|MICAL3_ENST00000429452.1_Missense_Mutation_p.A731T|MICAL3_ENST00000444520.1_Missense_Mutation_p.A731T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	731					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCAAATTTGGCCAGCAGCTGG	0.557																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(2191-2193)Gcc>Acc		microtubule associated monooxygenase, calponin and LIM domain containing 3							168	154	158					22																	18368694		1568	3582	5150	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18368694C>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2191G>A	22.37:g.18368694C>T	ENSP00000416015:p.Ala731Thr					MICAL3_ENST00000429452.1_Missense_Mutation_p.A731T|MICAL3_ENST00000383094.3_Missense_Mutation_p.A731T|MICAL3_ENST00000400561.2_Missense_Mutation_p.A731T|MICAL3_ENST00000414725.2_Missense_Mutation_p.A731T|MICAL3_ENST00000207726.7_Missense_Mutation_p.A731T|MICAL3_ENST00000585038.1_Missense_Mutation_p.A731T|MICAL3_ENST00000444520.1_Missense_Mutation_p.A731T	p.A731T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	16	2543	-		all_epithelial(15;0.198)	731					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.2191G>A	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	36	5.701195	0.96812	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.70516	-0.09;-0.49;-0.16;-0.16;-0.16;-0.16;-0.16	5.93	5.93	0.95920	.	0.116788	0.56097	D	0.000021	D	0.85296	0.5664	M	0.78637	2.42	0.58432	D	0.999999	D;D;D;P;D	0.89917	0.997;1.0;0.999;0.911;0.997	D;D;D;P;D	0.77004	0.989;0.987;0.966;0.646;0.977	D	0.84672	0.0712	10	0.52906	T	0.07	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	731;731;731;731;731	B2RXJ5;Q7RTP6-3;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	T	731	ENSP00000416015:A731T;ENSP00000414846:A731T;ENSP00000383406:A731T;ENSP00000410315:A731T;ENSP00000391827:A731T;ENSP00000372574:A731T;ENSP00000207726:A731T	ENSP00000207726:A731T	A	-	1	0	XXbac-B461K10.4;MICAL3	16748694	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.731000	0.84895	2.815000	0.96918	0.561000	0.74099	GCC		0.557	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			4	106	0	0	0	1	0	4	106					T	18368694	C	T	18368694	3	4	440	1	0	0	0	0	1	0	0	0	9571	739	26	3	4622	3	MICAL3	22	18368694	Missense_Mutation	SNP	C	TCGA-XK-AAJT-01A-11D-A41K-08		18368694	32935872	47	30387											
TBL1X	6907	broad.mit.edu	37	chrX	9656280	9656280	+	Frame_Shift_Del	DEL	C	C	-																															atcgaagaacagagaggccaCggtgaatggggaagagaaca																										TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chrX:9656280delC	ENST00000217964.7	+	7	1221	c.581delC	c.(580-582)acgfs	p.T194fs	TBL1X_ENST00000407597.2_Frame_Shift_Del_p.T194fs|TBL1X_ENST00000536365.1_Frame_Shift_Del_p.T143fs|TBL1X_ENST00000424279.1_Frame_Shift_Del_p.T143fs|TBL1X_ENST00000380961.1_Frame_Shift_Del_p.T143fs	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	194					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				AGAGAGGCCACGGTGAATGGG	0.612																																						ENST00000217964.7																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20						c.(580-582)agfs		transducin (beta)-like 1X-linked																																				SO:0001589	frameshift_variant	6907				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	g.chrX:9656280delC	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"WD repeat domain containing"	11585	protein-coding gene	gene with protein product		300196	"transducin (beta)-like 1"	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.581delC	X.37:g.9656280delC	ENSP00000217964:p.Thr194fs					TBL1X_ENST00000536365.1_Frame_Shift_Del_p.T143fs|TBL1X_ENST00000407597.2_Frame_Shift_Del_p.T194fs|TBL1X_ENST00000380961.1_Frame_Shift_Del_p.T143fs|TBL1X_ENST00000424279.1_Frame_Shift_Del_p.T143fs	p.T194fs	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN			7	1221	+		Hepatocellular(5;0.000888)	194					A8K044|A8K4J7|Q86UY2	Frame_Shift_Del	DEL	ENST00000217964.7	37	c.581delC	CCDS14133.1																																																																																				0.612	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		2	4						2	4	---	---	---	---	-	9656280	C	-	9656280	7	5	440	1	0	1	0	1	0	0	0	0	15636	536	19	0	595	0	TBL1X	23	9656280	Frame_Shift_Del	DEL	C	TCGA-XK-AAJT-01A-11D-A41K-08		9656280	145614280	48	30388											
HUWE1	10075	broad.mit.edu	37	chrX	53586378	53586378	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctcatcatcagaacGggcgatgatgtggacgtcat	11	8	12	10	3	4	2	4	1	0	1	4	4	4	3	0	2	3	2	0	2	1	0			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chrX:53586378G>C	ENST00000342160.3	-	56	8309	c.7852C>G	c.(7852-7854)Cgt>Ggt	p.R2618G	MIRLET7F2_ENST00000385277.1_RNA|HUWE1_ENST00000262854.6_Missense_Mutation_p.R2618G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2618					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			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						TCATCAGAACGGGCGATGATG	0.557																																						ENST00000342160.3																			0				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						c.(7852-7854)Cgt>Ggt		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							92	72	79					X																	53586378		2203	4300	6503	SO:0001583	missense	10075				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	g.chrX:53586378G>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7852C>G	X.37:g.53586378G>C	ENSP00000340648:p.Arg2618Gly					HUWE1_ENST00000262854.6_Missense_Mutation_p.R2618G	p.R2618G			Q7Z6Z7	HUWE1_HUMAN			56	8309	-			2618					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.7852C>G	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.41|15.41	2.826116|2.826116	0.50739|0.50739	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.38722	.|1.12;1.12	5.98|5.98	-3.02|-3.02	0.05446|0.05446	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.44912|0.44912	0.1316|0.1316	N|N	0.14661|0.14661	0.345|0.345	0.46564|0.46564	D|D	0.999107|0.999107	.|D;D	.|0.63046	.|0.987;0.992	.|D;D	.|0.72982	.|0.953;0.979	T|T	0.41770|0.41770	-0.9490|-0.9490	5|10	.|0.59425	.|D	.|0.04	.|.	19.1591|19.1591	0.93524|0.93524	0.0:0.0:0.2285:0.7715|0.0:0.0:0.2285:0.7715	.|.	.|2618;2618	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	R|G	1651|2618	.|ENSP00000340648:R2618G;ENSP00000262854:R2618G	.|ENSP00000262854:R2618G	P|R	-|-	2|1	0|0	HUWE1|HUWE1	53603103|53603103	1.000000|1.000000	0.71417|0.71417	0.729000|0.729000	0.30791|0.30791	0.959000|0.959000	0.62525|0.62525	1.631000|1.631000	0.37092|0.37092	-0.739000|-0.739000	0.04809|0.04809	-0.318000|-0.318000	0.08688|0.08688	CCG|CGT		0.557	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		22	8	0	0	0	1	0	22	8					C	53586378	G	C	53586378	3	2	440	1	0	0	0	0	1	0	0	0	7461	1116	39	5	5384	5	HUWE1	23	53586378	Missense_Mutation	SNP	G	TCGA-XK-AAJT-01A-11D-A41K-08	43930098	53586378	101684182	49	30389											
C18orf34	374864	broad.mit.edu	37	chr18	30795529	30795529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactttaatatttcaagtGtctgatcaaaacttttcttt	11	20	3	7	0	4	1	2	1	2	0	4	1	4	1	0	0	2	0	0	0	6	8	rs185692505	byFrequency	TCGA-XK-AAJU-01A-11D-A41K-08	TCGA-XK-AAJU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e27c976-6830-4deb-9456-5e3615bf7cb0	ccf76f57-aae5-4baf-a1cc-56a0a59c143b	g.chr18:30795529G>A	ENST00000383096.3	-	19	2245	c.2063C>T	c.(2062-2064)aCa>aTa	p.T688I	CCDC178_ENST00000402325.1_Missense_Mutation_p.T688I|CCDC178_ENST00000406524.2_Missense_Mutation_p.T688I|CCDC178_ENST00000583930.1_Missense_Mutation_p.T688I|CCDC178_ENST00000579947.1_Missense_Mutation_p.T688I|CCDC178_ENST00000403303.1_Missense_Mutation_p.T688I|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.T650I			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	688																	TATTTCAAGTGTCTGATCAAA	0.209													G|||	5	0.000998403	0	0.0014	5008	,	,		13256	0		0.004	False		,,,				2504	0					ENST00000383096.3																			0											c.(2062-2064)aCa>aTa		coiled-coil domain containing 178		G	ILE/THR,ILE/THR	1,4205		0,1,2102	17	17	17		2063,1949	-8.3	0	18		17	22,8374		0,22,4176	yes	missense,missense	C18orf34	NM_001105528.1,NM_198995.2	89,89	0,23,6278	AA,AG,GG		0.262,0.0238,0.1825	benign,benign	688/868,650/830	30795529	23,12579	2103	4198	6301	SO:0001583	missense	374864							g.chr18:30795529G>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2063C>T	18.37:g.30795529G>A	ENSP00000372576:p.Thr688Ile					CCDC178_ENST00000402325.1_Missense_Mutation_p.T688I|CCDC178_ENST00000403303.1_Missense_Mutation_p.T688I|CCDC178_ENST00000583930.1_Missense_Mutation_p.T688I|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.T688I|CCDC178_ENST00000579947.1_Missense_Mutation_p.T688I|CCDC178_ENST00000300227.8_Missense_Mutation_p.T650I	p.T688I							19	2245	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.2063C>T	CCDS42424.1	5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	G	0.890	-0.725930	0.03158	2.38E-4	0.00262	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.14266	2.58;2.58;2.56;2.58;2.52	4.14	-8.29	0.01009	.	.	.	.	.	T	0.03390	0.0098	N	0.11201	0.11	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.35475	-0.9787	9	0.32370	T	0.25	1.4221	5.4573	0.16598	0.1445:0.0953:0.5149:0.2453	.	688;688;688;650;688	F8W7A7;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	I	688;688;650;688;688	ENSP00000385591:T688I;ENSP00000372576:T688I;ENSP00000300227:T650I;ENSP00000385867:T688I;ENSP00000385234:T688I	ENSP00000300227:T650I	T	-	2	0	C18orf34	29049527	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.043000	0.00157	-2.793000	0.00355	-1.628000	0.00784	ACA		0.209	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		4	8	0	0	0	1	0	4	8					A	30795529	G	A	30795529	3	1	441	1	0	0	0	0	1	0	0	0	1902	1377	48	3	560	3	C18orf34	18	30795529	Missense_Mutation	SNP	G	TCGA-XK-AAJU-01A-11D-A41K-08		30795529	47281719	1	30390											
RNF186	54546	broad.mit.edu	37	chr1	20141239	20141239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccaccagcccctgaggaCagagcgatacctctgtgcat	10	7	10	14	1	1	2	0	1	1	1	2	5	2	3	5	1	4	1	5	1	1	1			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:20141239C>A	ENST00000375121.2	-	1	532	c.356G>T	c.(355-357)tGt>tTt	p.C119F	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	119						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			kidney(1)|lung(3)|urinary_tract(1)	5		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)		CCCCTGAGGACAGAGCGATAC	0.652																																						ENST00000375121.2																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(355-357)tGt>tTt		ring finger protein 186							51	61	57					1																	20141239		2203	4300	6503	SO:0001583	missense	54546					integral to membrane	zinc ion binding	g.chr1:20141239C>A		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"RING-type (C3HC4) zinc fingers"	25978	protein-coding gene	gene with protein product	"hypothetical protein FLJ20225"					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.356G>T	1.37:g.20141239C>A	ENSP00000364263:p.Cys119Phe					RP11-91K11.2_ENST00000454736.1_RNA	p.C119F	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN		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)	1	532	-		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)	119					Q53GE0	Missense_Mutation	SNP	ENST00000375121.2	37	c.356G>T	CCDS199.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516990	0.27123	.	.	ENSG00000178828	ENST00000375121	T	0.32515	1.45	5.71	2.68	0.31781	.	0.400573	0.21783	N	0.069163	T	0.43188	0.1236	M	0.65975	2.015	0.36506	D	0.869308	D	0.59767	0.986	P	0.51135	0.66	T	0.59979	-0.7352	10	0.59425	D	0.04	-1.9365	15.7036	0.77560	0.0:0.3549:0.6451:0.0	.	119	Q9NXI6	RN186_HUMAN	F	119	ENSP00000364263:C119F	ENSP00000364263:C119F	C	-	2	0	RNF186	20013826	1.000000	0.71417	0.998000	0.56505	0.008000	0.06430	1.972000	0.40540	0.735000	0.32537	-0.951000	0.02657	TGT		0.652	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		19	49	1	0	1.00905e-13	1	1.09492e-13	19	49					A	20141239	C	A	20141239	3	1	442	1	0	0	0	0	1	0	0	0	13469	478	17	5	331	5	RNF186	1	20141239	Missense_Mutation	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08		20141239	229109382	1	30391											
MMACHC	25974	broad.mit.edu	37	chr1	45973975	45973975	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcccagacagcagcccatgTagctggggctgcttactact	8	8	12	13	0	0	1	0	0	0	1	0	1	0	1	2	3	6	5	2	3	3	3			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:45973975T>G	ENST00000401061.4	+	3	648	c.368T>G	c.(367-369)gTa>gGa	p.V123G		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	123					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCAGCCCATGTAGCTGGGGCT	0.552																																						ENST00000401061.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(367-369)gTa>gGa		methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						65	69	68					1																	45973975		1937	4121	6058	SO:0001583	missense	25974						cobalamin binding	g.chr1:45973975T>G		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.368T>G	1.37:g.45973975T>G	ENSP00000383840:p.Val123Gly						p.V123G	NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN			3	648	+	Acute lymphoblastic leukemia(166;0.155)		123					Q5T157|Q9BRQ7	Missense_Mutation	SNP	ENST00000401061.4	37	c.368T>G	CCDS41324.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.721161	0.89205	.	.	ENSG00000132763	ENST00000401061	D	0.97924	-4.61	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.98795	0.9594	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.99799	1.1035	10	0.87932	D	0	-14.7476	15.8221	0.78662	0.0:0.0:0.0:1.0	.	123	Q9Y4U1	MMAC_HUMAN	G	123	ENSP00000383840:V123G	ENSP00000383840:V123G	V	+	2	0	MMACHC	45746562	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.468000	0.80943	2.227000	0.72691	0.460000	0.39030	GTA		0.552	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020864.2	NM_015506		17	29	0	0	0	1	0	17	29					G	45973975	T	G	45973975	3	3	442	1	0	0	0	0	1	0	0	0	9641	1638	57	5	378	5	MMACHC	1	45973975	Missense_Mutation	SNP	T	TCGA-XK-AAK1-01A-11D-A41K-08	25832736	45973975	203276646	2	30392											
KIRREL	55243	broad.mit.edu	37	chr1	158057581	158057581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccattgagccacagaCggtgcaggagggtgagcgtg	8	7	16	10	2	0	3	0	2	0	1	1	4	1	4	3	3	3	1	3	3	0	1			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:158057581C>T	ENST00000359209.6	+	6	765	c.698C>T	c.(697-699)aCg>aTg	p.T233M	KIRREL_ENST00000368173.3_Missense_Mutation_p.T233M|KIRREL_ENST00000360089.4_Missense_Mutation_p.T69M|KIRREL_ENST00000392272.2_Missense_Mutation_p.T130M|KIRREL_ENST00000368172.1_Missense_Mutation_p.T31M|KIRREL_ENST00000416935.2_Missense_Mutation_p.T133M			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	233	Ig-like C2-type 3.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.T233R(2)|p.T69R(1)		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)					GAGCCACAGACGGTGCAGGAG	0.577											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368172.1																			3	Substitution - Missense(3)	p.T233R(2)|p.T69R(1)	kidney(3)	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						c.(91-93)aCg>aTg		kin of IRRE like (Drosophila)							80	63	69					1																	158057581		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158057581C>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.698C>T	1.37:g.158057581C>T	ENSP00000352138:p.Thr233Met		OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1790	KIRREL_ENST00000392272.2_Missense_Mutation_p.T130M|KIRREL_ENST00000416935.2_Missense_Mutation_p.T133M|KIRREL_ENST00000359209.6_Missense_Mutation_p.T233M|KIRREL_ENST00000360089.4_Missense_Mutation_p.T69M|KIRREL_ENST00000368173.3_Missense_Mutation_p.T233M	p.T31M			Q96J84	KIRR1_HUMAN			2	104	+	all_hematologic(112;0.0378)		233			Ig-like C2-type 1.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.92C>T	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021551	0.93462	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58	5.62	5.62	0.85841	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44483	D	0.000444	T	0.34890	0.0913	M	0.85630	2.765	0.58432	D	0.999994	D;D;D;D	0.89917	0.994;0.997;1.0;1.0	D;D;D;D	0.73708	0.948;0.981;0.971;0.971	T	0.15321	-1.0441	10	0.56958	D	0.05	-15.1113	17.1484	0.86772	0.0:1.0:0.0:0.0	.	133;69;31;233	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	M	69;233;130;233;133;31	ENSP00000353202:T69M;ENSP00000357155:T233M;ENSP00000376098:T130M;ENSP00000352138:T233M;ENSP00000389674:T133M;ENSP00000357154:T31M	ENSP00000352138:T233M	T	+	2	0	KIRREL	156324205	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	7.335000	0.79234	2.644000	0.89710	0.563000	0.77884	ACG		0.577	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		6	5	0	0	0	1	0	6	5					T	158057581	C	T	158057581	3	4	442	1	0	0	0	0	1	0	0	0	8324	536	19	1	720	1	KIRREL	1	158057581	Missense_Mutation	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08	112083606	158057581	91193040	3	30393											
PRG4	10216	broad.mit.edu	37	chr1	186276590	186276592	+	In_Frame_Del	DEL	CCC	CCC	-																															caagaagcctgccccaactaCccccaaggagcctgcaccca																								rs201872234|rs372831102		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:186276590_186276592delCCC	ENST00000445192.2	+	7	1784_1786	c.1739_1741delCCC	c.(1738-1743)accccc>acc	p.P581del	PRG4_ENST00000367485.4_In_Frame_Del_p.P488del|PRG4_ENST00000367486.3_In_Frame_Del_p.P538del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.P540del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	581	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCCCCAACTACCCCCAAGGAGCC	0.64																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1738-1743)acc>a		proteoglycan 4																																				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276590_186276592delCCC	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1739_1741delCCC	1.37:g.186276590_186276592delCCC	ENSP00000399679:p.Pro581del					PRG4_ENST00000367485.4_In_Frame_Del_p.TP487del|PRG4_ENST00000367483.4_In_Frame_Del_p.TP539del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_In_Frame_Del_p.TP537del	p.TP580del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1784_1786	+			580			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.1739_1741delCCC	CCDS1369.1																																																																																				0.64	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		14	58						14	58	---	---	---	---	-	186276592	CCC	-	186276590	7	5	442	1	0	1	0	1	0	0	0	0	12481	507	18	0	1761	0	PRG4	1	186276590	In_Frame_Del	DEL	CCC	TCGA-XK-AAK1-01A-11D-A41K-08	28219009	186276590	62974031	4	30394											
PPP2R5A	5525	broad.mit.edu	37	chr1	212459454	212459455	+	Start_Codon_Ins	INS	-	-	GTC																															agcgtcagggccgcggagatINSgtcgtcgtcgtcgccgccgg																								rs572979647	byFrequency	TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:212459454_212459455insGTC	ENST00000261461.2	+	0	576_577					NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha						negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)	p.M1K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GCCGCGGAGATGTCGTCGTCGT	0.733														27	0.00539137	8e-04	0.0144	5008	,	,		11899	0		0.0149	False		,,,				2504	0.001					ENST00000261461.2																			1	Substitution - Missense(1)	p.M1K(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16								protein phosphatase 2, regulatory subunit B', alpha																																				SO:0001582	initiator_codon_variant	5525				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	g.chr1:212459454_212459455insGTC	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9309	protein-coding gene	gene with protein product		601643	"protein phosphatase 2, regulatory subunit B (B56), alpha isoform", "protein phosphatase 2, regulatory subunit B', alpha isoform"			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.12_14dupGTC	1.37:g.212459461_212459463dupGTC								NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	0	576_577	+								B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Translation_Start_Site	INS	ENST00000261461.2	37		CCDS1503.1																																																																																				0.733	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		7	1						7	1	---	---	---	---	GTC	212459455	-	GTC	212459454	7	5	442	1	0	1	1	0	0	0	0	0	12392	1464	51	0	4	0	PPP2R5A	1	212459454	Start_Codon_Ins	INS	-	TCGA-XK-AAK1-01A-11D-A41K-08	26182864	212459454	36791167	5	30395											
OR2B11	127623	broad.mit.edu	37	chr1	247614682	247614682	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaccagcacagccagtatGgtgtcattcacagcggtgtc	9	8	11	13	1	2	0	2	0	0	0	3	0	2	0	3	2	3	2	3	2	1	2			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:247614682G>A	ENST00000318749.6	-	1	626	c.603C>T	c.(601-603)acC>acT	p.T201T		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CAGCCAGTATGGTGTCATTCA	0.567																																						ENST00000318749.6																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(601-603)acC>acT		olfactory receptor, family 2, subfamily B, member 11							62	64	63					1																	247614682		2203	4300	6503	SO:0001819	synonymous_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614682G>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.603C>T	1.37:g.247614682G>A							p.T201T	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	626	-	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)	201					B2RP03	Silent	SNP	ENST00000318749.6	37	c.603C>T	CCDS31090.1																																																																																				0.567	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		5	16	0	0	0	1	0	5	16					A	247614682	G	A	247614682	2	1	442	1	0	0	0	0	0	0	0	1	10988	1335	47	3		3	OR2B11	1	247614682	Silent	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08	35155228	247614682	1635939	6	30396											
OR2M2	391194	broad.mit.edu	37	chr1	248343652	248343652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgttatggcttatgaccGctatattgctatttgccacc	7	15	9	10	1	0	1	0	1	0	0	0	1	0	1	3	2	2	5	3	2	5	7	rs142698993		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:248343652G>A	ENST00000359682.2	+	1	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTTATGACCGCTATATTGCT	0.403													g|||	1	0.000199681	0	0	5008	,	,		19986	0		0	False		,,,				2504	0.001					ENST00000359682.2																			1	Substitution - Missense(1)	p.R122H(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(364-366)cGc>cAc		olfactory receptor, family 2, subfamily M, member 2		G	HIS/ARG	0,4406		0,0,2203	201	212	208		365	0.9	0	1	dbSNP_134	208	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR2M2	NM_001004688.1	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	122/348	248343652	2,13004	2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343652G>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.365G>A	1.37:g.248343652G>A	ENSP00000352710:p.Arg122His						p.R122H	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	365	+	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)		122					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.365G>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	11.34	1.609100	0.28623	0.0	2.33E-4	ENSG00000198601	ENST00000359682	T	0.77489	-1.1	1.88	0.91	0.19337	GPCR, rhodopsin-like superfamily (1);	0.274743	0.19399	U	0.115229	T	0.78175	0.4242	M	0.91300	3.195	0.22142	N	0.999332	B	0.28291	0.206	B	0.21546	0.035	T	0.71076	-0.4697	10	0.62326	D	0.03	.	8.1932	0.31381	0.1337:0.0:0.8663:0.0	.	122	Q96R28	OR2M2_HUMAN	H	122	ENSP00000352710:R122H	ENSP00000352710:R122H	R	+	2	0	OR2M2	246410275	0.976000	0.34144	0.000000	0.03702	0.000000	0.00434	5.220000	0.65267	0.142000	0.18901	-0.391000	0.06502	CGC		0.403	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		103	150	0	0	0	1	0	103	150					A	248343652	G	A	248343652	3	1	442	1	0	0	0	0	1	0	0	0	11010	1087	38	1	367	1	OR2M2	1	248343652	Missense_Mutation	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08	728970	248343652	906969	7	30397											
NBAS	51594	broad.mit.edu	37	chr2	15358960	15358960	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacacgaggagcttgctGtcctcctcagtcaggtgaaa	12	8	11	10	1	2	2	2	1	0	1	4	4	4	3	2	2	3	2	2	2	3	1			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr2:15358960G>A	ENST00000281513.5	-	48	6394	c.6369C>T	c.(6367-6369)gaC>gaT	p.D2123D	NBAS_ENST00000441750.1_Silent_p.D2003D	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2123					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				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						GGAGCTTGCTGTCCTCCTCAG	0.527																																						ENST00000281513.5																			0				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						c.(6367-6369)gaC>gaT		neuroblastoma amplified sequence							71	75	73					2																	15358960		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15358960G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6369C>T	2.37:g.15358960G>A						NBAS_ENST00000441750.1_Silent_p.D2003D	p.D2123D	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			48	6394	-			2123					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.6369C>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	8.716	0.913115	0.17907	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.63	-0.858	0.10689	.	.	.	.	.	T	0.58409	0.2120	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52480	-0.8570	4	.	.	.	.	11.5515	0.50723	0.4746:0.0:0.5254:0.0	.	.	.	.	I	1171	.	.	T	-	2	0	NBAS	15276411	0.997000	0.39634	0.086000	0.20670	0.994000	0.84299	0.373000	0.20484	-0.519000	0.06444	0.591000	0.81541	ACA		0.527	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		34	47	0	0	0	1	0	34	47					A	15358960	G	A	15358960	2	1	442	1	0	0	0	0	0	0	0	1	10186	1368	48	3		3	NBAS	2	15358960	Silent	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08		15358960	227840413	8	30398											
LRRTM1	347730	broad.mit.edu	37	chr2	80530137	80530137	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacacatggggctccatgtActcgatctcgttgcccgaca	9	9	10	13	3	1	0	0	0	1	0	4	3	2	0	2	2	3	3	2	2	2	2			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr2:80530137A>G	ENST00000295057.3	-	2	1464	c.808T>C	c.(808-810)Tac>Cac	p.Y270H	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.Y270H|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	270					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				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						GGCTCCATGTACTCGATCTCG	0.597										HNSCC(69;0.2)																												ENST00000295057.3																			0				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						c.(808-810)Tac>Cac		leucine rich repeat transmembrane neuronal 1							80	78	79					2																	80530137		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530137A>G	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.808T>C	2.37:g.80530137A>G	ENSP00000295057:p.Tyr270His	HNSCC(69;0.2)				CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.Y270H|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron	p.Y270H	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1464	-			270					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.808T>C	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	A	6.522	0.464603	0.12402	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.58060	0.36;0.36	5.26	5.26	0.73747	.	0.144722	0.47852	U	0.000205	T	0.38134	0.1029	N	0.17631	0.505	0.58432	D	0.999995	B	0.13145	0.007	B	0.17433	0.018	T	0.17806	-1.0357	9	.	.	.	.	15.1528	0.72713	1.0:0.0:0.0:0.0	.	270	Q86UE6	LRRT1_HUMAN	H	270	ENSP00000295057:Y270H;ENSP00000386646:Y270H	.	Y	-	1	0	LRRTM1	80383648	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.115000	0.71566	1.956000	0.56807	0.533000	0.62120	TAC		0.597	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		13	24	0	0	0	1	0	13	24					G	80530137	A	G	80530137	3	3	442	1	0	0	0	0	1	0	0	0	9039	391	14	4	764	4	LRRTM1	2	80530137	Missense_Mutation	SNP	A	TCGA-XK-AAK1-01A-11D-A41K-08	65171177	80530137	162669236	9	30399											
SSB	6741	broad.mit.edu	37	chr2	170662037	170662038	+	In_Frame_Ins	INS	-	-	AAACTG																															agtttctaaaggaacagataINSaaactggatgaaggctgggt																										TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr2:170662037_170662038insAAACTG	ENST00000409333.1	+	3	367_368	c.120_121insAAACTG	c.(121-123)aaa>AAACTGaaa	p.41_41K>KLK	SSB_ENST00000260956.4_In_Frame_Ins_p.41_41K>KLK			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	41	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AGGAACAGATAAAACTGGATGA	0.332																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(118-123)ataact>atAAACTGaact		Sjogren syndrome antigen B (autoantigen La)																																				SO:0001652	inframe_insertion	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170662037_170662038insAAACTG		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	11316	protein-coding gene	gene with protein product	"La ribonucleoprotein domain family, member 3"	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.121_126dupAAACTG	2.37:g.170662038_170662043dupAAACTG	Exception_encountered					SSB_ENST00000260956.4_In_Frame_Ins_p.40_41IT>IN*T	p.40_41IT>IN*T			P05455	LA_HUMAN			3	367_368	+			40			HTH La-type RNA-binding.		Q15367|Q53XJ4	In_Frame_Ins	INS	ENST00000409333.1	37	c.120_121insAAACTG	CCDS2237.1																																																																																				0.332	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		11	22						11	22	---	---	---	---	AAACTG	170662038	-	AAACTG	170662037	7	5	442	1	0	1	1	0	0	0	0	0	15177	352	13	0	126	0	SSB	2	170662037	In_Frame_Ins	INS	-	TCGA-XK-AAK1-01A-11D-A41K-08	90131900	170662037	72537336	10	30400											
ATIC	471	broad.mit.edu	37	chr2	216198161	216198161	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctcacacccatctcagcGgcatatgcaagagcaagagg	13	5	9	14	1	2	2	2	0	1	2	3	2	2	2	2	2	3	3	2	2	3	1	rs372300174		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr2:216198161G>C	ENST00000236959.9	+	9	1229	c.903G>C	c.(901-903)gcG>gcC	p.A301A	ATIC_ENST00000540518.1_Silent_p.A242A|ATIC_ENST00000435675.1_Silent_p.A300A	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	301					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CCATCTCAGCGGCATATGCAA	0.403			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(898-900)gcG>gcC		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						90	86	88					2																	216198161		2203	4300	6503	SO:0001819	synonymous_variant	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216198161G>C		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.903G>C	2.37:g.216198161G>C						ATIC_ENST00000236959.9_Silent_p.A301A|ATIC_ENST00000540518.1_Silent_p.A242A	p.A300A			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	8	1291	+		Renal(323;0.229)	301					A8K202|E9PBU3|Q13856|Q53S28	Silent	SNP	ENST00000236959.9	37	c.900G>C	CCDS2398.1																																																																																				0.403	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		19	41	0	0	0	1	0	19	41					C	216198161	G	C	216198161	2	2	442	1	0	0	0	0	0	0	0	1	1105	1103	39	5		5	ATIC	2	216198161	Silent	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08	45536124	216198161	27001212	11	30401											
GLB1L	79411	broad.mit.edu	37	chr2	220104982	220104982	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgggcagcaagaccttgaaCcaggagtccactgcggcaag	11	6	13	11	1	0	2	0	1	0	1	1	3	1	3	3	3	3	3	3	3	3	2			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr2:220104982C>A	ENST00000295759.7	-	6	790	c.477G>T	c.(475-477)tgG>tgT	p.W159C	GLB1L_ENST00000392089.2_Missense_Mutation_p.W159C|GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000409640.1_Intron|GLB1L_ENST00000497855.1_5'Flank			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	159					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		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)		AGACCTTGAACCAGGAGTCCA	0.488																																						ENST00000295759.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(475-477)tgG>tgT		galactosidase, beta 1-like							150	135	140					2																	220104982		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220104982C>A		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.477G>T	2.37:g.220104982C>A	ENSP00000295759:p.Trp159Cys					GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000392089.2_Missense_Mutation_p.W159C|GLB1L_ENST00000409640.1_Intron	p.W159C			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	790	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	159					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.477G>T	CCDS2437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.960121|3.960121	0.74016|0.74016	.|.	.|.	ENSG00000163521|ENSG00000163521	ENST00000440853|ENST00000295759;ENST00000392089	.|D;D	.|0.98400	.|-4.91;-4.91	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99426|0.99426	0.9797|0.9797	H|H	0.97564|0.97564	4.03|4.03	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.98376|0.98376	1.0556|1.0556	5|10	.|0.87932	.|D	.|0	-9.4216|-9.4216	19.7358|19.7358	0.96202|0.96202	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|159	.|Q6UWU2	.|GLB1L_HUMAN	V|C	92|159	.|ENSP00000295759:W159C;ENSP00000375939:W159C	.|ENSP00000295759:W159C	G|W	-|-	2|3	0|0	GLB1L|GLB1L	219813226|219813226	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.848000|0.848000	0.48234|0.48234	7.684000|7.684000	0.84104|0.84104	2.660000|2.660000	0.90430|0.90430	0.557000|0.557000	0.71058|0.71058	GGT|TGG		0.488	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		4	136	1	0	0.000602214	1	0.000614259	4	136					A	220104982	C	A	220104982	3	1	442	1	0	0	0	0	1	0	0	0	6428	508	18	5	1535	5	GLB1L	2	220104982	Missense_Mutation	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08	3906821	220104982	23094391	12	30402											
RUVBL1	8607	broad.mit.edu	37	chr3	127816297	127816297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctcagcaatgccctggtCgatgtacttgttcaccacct	8	11	8	14	1	2	0	2	0	0	0	3	1	2	0	3	1	4	4	3	1	2	3			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr3:127816297C>T	ENST00000322623.5	-	8	961	c.862G>A	c.(862-864)Gac>Aac	p.D288N	RUVBL1_ENST00000417360.1_Missense_Mutation_p.D288N|RUVBL1_ENST00000464873.1_Missense_Mutation_p.D228N	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	288					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		ATGCCCTGGTCGATGTACTTG	0.557																																						ENST00000464873.1																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(682-684)Gac>Aac		RuvB-like AAA ATPase 1							177	139	152					3																	127816297		2203	4300	6503	SO:0001583	missense	8607				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	g.chr3:127816297C>T	AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"INO80 complex subunits", "ATPases / AAA-type"	10474	protein-coding gene	gene with protein product	"pontin", "INO80 complex subunit H"	603449	"RuvB (E coli homolog)-like 1", "RuvB-like 1 (E. coli)", "RuvB-like AAA ATPase"			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.862G>A	3.37:g.127816297C>T	ENSP00000318297:p.Asp288Asn					RUVBL1_ENST00000322623.5_Missense_Mutation_p.D288N|RUVBL1_ENST00000417360.1_Missense_Mutation_p.D288N	p.D228N			Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	8	1432	-			288					B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	ENST00000322623.5	37	c.682G>A	CCDS3047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.135490|4.135490	0.77662|0.77662	.|.	.|.	ENSG00000175792|ENSG00000175792	ENST00000464873;ENST00000322623;ENST00000417360;ENST00000478892|ENST00000472125	T;T;T|.	0.64438|.	-0.09;-0.1;0.32|.	5.57|5.57	5.57|5.57	0.84162|0.84162	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);|.	0.041845|.	0.85682|.	D|.	0.000000|.	T|T	0.75510|0.75510	0.3859|0.3859	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	B;B;B;P|.	0.42735|.	0.02;0.043;0.006;0.788|.	B;B;B;B|.	0.41917|.	0.009;0.044;0.011;0.37|.	T|T	0.73411|0.73411	-0.3991|-0.3991	10|5	0.72032|.	D|.	0.01|.	-5.1743|-5.1743	19.5555|19.5555	0.95345|0.95345	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	288;288;228;228|.	Q9Y265-2;Q9Y265;E7ETR0;B3KRS7|.	.;RUVB1_HUMAN;.;.|.	N|Q	228;288;288;87|107	ENSP00000420738:D228N;ENSP00000318297:D288N;ENSP00000393755:D288N|.	ENSP00000318297:D288N|.	D|R	-|-	1|2	0|0	RUVBL1|RUVBL1	129298987|129298987	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.067000|7.067000	0.76741|0.76741	2.619000|2.619000	0.88677|0.88677	0.491000|0.491000	0.48974|0.48974	GAC|CGA		0.557	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2			22	36	0	0	0	1	0	22	36					T	127816297	C	T	127816297	3	4	442	1	0	0	0	0	1	0	0	0	13752	884	31	2	524	2	RUVBL1	3	127816297	Missense_Mutation	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08		127816297	70206133	13	30403											
EPHB1	2047	broad.mit.edu	37	chr3	134920345	134920345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcagttcaccgtgatccaGcttgtgggtatgctcagggg	6	10	16	9	1	2	1	2	1	0	0	3	1	3	1	2	4	2	5	2	4	1	3			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr3:134920345G>T	ENST00000398015.3	+	12	2530	c.2160G>T	c.(2158-2160)caG>caT	p.Q720H	EPHB1_ENST00000493838.1_Missense_Mutation_p.Q281H	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	720	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCGTGATCCAGCTTGTGGGTA	0.507																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2158-2160)caG>caT		EPH receptor B1							218	216	217					3																	134920345		2203	4300	6503	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134920345G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2160G>T	3.37:g.134920345G>T	ENSP00000381097:p.Gln720His					EPHB1_ENST00000493838.1_Missense_Mutation_p.Q281H	p.Q720H	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			12	2530	+			720			Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2160G>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325752	0.81580	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	D;D	0.83163	-1.69;-1.69	5.52	4.42	0.53409	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.065752	0.64402	D	0.000005	D	0.88093	0.6344	L	0.54863	1.705	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.88406	0.3018	10	0.87932	D	0	.	12.7953	0.57556	0.1134:0.0:0.8866:0.0	.	720	P54762	EPHB1_HUMAN	H	720;281	ENSP00000381097:Q720H;ENSP00000419574:Q281H	ENSP00000381097:Q720H	Q	+	3	2	EPHB1	136403035	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.086000	0.57664	2.755000	0.94549	0.563000	0.77884	CAG		0.507	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		9	194	1	0	0.00621372	1	0.00621372	9	194					T	134920345	G	T	134920345	3	4	442	1	0	0	0	0	1	0	0	0	5174	962	34	5	2206	5	EPHB1	3	134920345	Missense_Mutation	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08	7104048	134920345	63102085	14	30404											
PCDH7	5099	broad.mit.edu	37	chr4	30724481	30724481	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagcgacaccgagggcgaCcagaacaagaaaaagtactt	16	3	11	11	3	0	2	0	0	0	2	0	5	0	2	3	1	3	1	3	1	5	2			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr4:30724481C>A	ENST00000361762.2	+	1	2445	c.1437C>A	c.(1435-1437)gaC>gaA	p.D479E	PCDH7_ENST00000543491.1_Missense_Mutation_p.D479E	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	479	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						CCGAGGGCGACCAGAACAAGA	0.627																																						ENST00000361762.2																			0				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						c.(1435-1437)gaC>gaA		protocadherin 7							91	68	76					4																	30724481		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724481C>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1437C>A	4.37:g.30724481C>A	ENSP00000355243:p.Asp479Glu					PCDH7_ENST00000543491.1_Missense_Mutation_p.D479E	p.D479E	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	2445	+			479			Cadherin 4.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1437C>A	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.733|1.733	-0.493566|-0.493566	0.04322|0.04322	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.50001|.	0.78;0.76|.	5.16|5.16	3.42|3.42	0.39159|0.39159	Cadherin (4);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.34716|0.34716	0.0907|0.0907	N|N	0.20685|0.20685	0.6|0.6	0.39705|0.39705	D|D	0.971245|0.971245	B;B;B|.	0.14438|.	0.002;0.01;0.002|.	B;B;B|.	0.19148|.	0.007;0.024;0.019|.	T|T	0.12293|0.12293	-1.0553|-1.0553	9|5	0.23891|.	T|.	0.37|.	.|.	3.1074|3.1074	0.06346|0.06346	0.1486:0.5611:0.1287:0.1615|0.1486:0.5611:0.1287:0.1615	.|.	479;432;479|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	E|T	479;479;432|169	ENSP00000355243:D479E;ENSP00000441802:D479E|.	ENSP00000330302:D432E|.	D|P	+|+	3|1	2|0	PCDH7|PCDH7	30333579|30333579	0.038000|0.038000	0.19896|0.19896	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	-0.683000|-0.683000	0.05179|0.05179	0.733000|0.733000	0.32492|0.32492	0.655000|0.655000	0.94253|0.94253	GAC|CCA		0.627	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		17	13	1	0	4.14922e-12	1	4.31857e-12	17	13					A	30724481	C	A	30724481	3	1	442	1	0	0	0	0	1	0	0	0	11516	506	18	5	1439	5	PCDH7	4	30724481	Missense_Mutation	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08		30724481	160429795	15	30405											
AHRR	57491	broad.mit.edu	37	chr5	422959	422959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgtttgggcagccccCgcccttggagacaggtgggt	4	9	18	10	1	0	1	0	0	0	1	0	2	0	1	3	6	1	2	3	6	0	2			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr5:422959C>T	ENST00000505113.1	+	6	613	c.569C>T	c.(568-570)cCg>cTg	p.P190L	AHRR_ENST00000512529.1_Missense_Mutation_p.P36L|AHRR_ENST00000506456.1_Missense_Mutation_p.P46L|AHRR_ENST00000316418.5_Missense_Mutation_p.P190L	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	190					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGGCAGCCCCCGCCCTTGGAG	0.592																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(568-570)cCg>cTg		aryl-hydrocarbon receptor repressor							41	48	45					5																	422959		2019	4174	6193	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:422959C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.569C>T	5.37:g.422959C>T	ENSP00000424601:p.Pro190Leu					AHRR_ENST00000505113.1_Missense_Mutation_p.P190L|AHRR_ENST00000506456.1_Missense_Mutation_p.P46L|AHRR_ENST00000512529.1_Missense_Mutation_p.P36L	p.P190L	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		6	613	+			190					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.569C>T	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	C	2.900	-0.227640	0.06022	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.21191	2.35;2.35;2.02;2.02	4.9	-2.99	0.05497	.	1.110750	0.06604	N	0.754338	T	0.07279	0.0184	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.14438	0.003;0.005;0.01	B;B;B	0.09377	0.002;0.001;0.004	T	0.35351	-0.9792	10	0.27785	T	0.31	.	5.7609	0.18199	0.1334:0.3021:0.0:0.5645	.	46;190;190	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	L	190;190;36;46	ENSP00000424601:P190L;ENSP00000323816:P190L;ENSP00000424880:P36L;ENSP00000426932:P46L	ENSP00000323816:P190L	P	+	2	0	AHRR	475959	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.135000	0.15952	-0.469000	0.06911	-0.140000	0.14226	CCG		0.592	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		11	27	0	0	0	1	0	11	27					T	422959	C	T	422959	3	4	442	1	0	0	0	0	1	0	0	0	417	652	23	2	591	2	AHRR	5	422959	Missense_Mutation	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08		422959	180492301	16	30406											
SLCO4C1	353189	broad.mit.edu	37	chr5	101585438	101585438	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggataataatatgatcgCgaacagttacaattggcatt	16	11	8	6	2	0	1	0	1	0	0	1	3	0	2	0	2	2	2	0	2	6	6	rs373573471		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr5:101585438C>T	ENST00000310954.6	-	9	1810	c.1524G>A	c.(1522-1524)tcG>tcA	p.S508S		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AATATGATCGCGAACAGTTAC	0.408																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1522-1524)tcG>tcA		solute carrier organic anion transporter family, member 4C1		C		0,4406		0,0,2203	102	100	101		1524	2.6	0.4	5		101	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SLCO4C1	NM_180991.4		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		508/725	101585438	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101585438C>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1524G>A	5.37:g.101585438C>T							p.S508S	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	9	1810	-		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)	508			Kazal-like.			Silent	SNP	ENST00000310954.6	37	c.1524G>A	CCDS34205.1																																																																																				0.408	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		18	41	0	0	0	1	0	18	41					T	101585438	C	T	101585438	2	4	442	1	0	0	0	0	0	0	0	1	14730	755	27	1		1	SLCO4C1	5	101585438	Silent	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08	101162479	101585438	79329822	17	30407											
NHP2	55651	broad.mit.edu	37	chr5	177577924	177577924	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagacatagggcaaatttcGgtcctcacacatgactggga	13	9	10	9	1	1	2	1	1	0	1	3	3	2	3	1	3	0	1	1	3	3	3			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr5:177577924G>A	ENST00000274606.3	-	3	450	c.301C>T	c.(301-303)Cga>Tga	p.R101*	NHP2_ENST00000314397.4_Intron	NM_017838.3	NP_060308.1	Q9NX24	NHP2_HUMAN	NHP2 ribonucleoprotein	101					rRNA pseudouridine synthesis (GO:0031118)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|kidney(1)|ovary(2)	4						GGCAAATTTCGGTCCTCACAC	0.512																																						ENST00000274606.3																			0				endometrium(1)|kidney(1)|ovary(2)	4						c.(301-303)Cga>Tga		NHP2 ribonucleoprotein							274	251	259					5																	177577924		2203	4300	6503	SO:0001587	stop_gained	55651				rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr5:177577924G>A	AF161404	CCDS4432.1, CCDS34308.1	5q35.3	2014-09-17	2012-12-10	2008-10-13	ENSG00000145912	ENSG00000145912			14377	protein-coding gene	gene with protein product		606470	"nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs)", "NHP2 ribonucleoprotein homolog (yeast)"	NOLA2		11074001	Standard	NM_017838		Approved	FLJ20479	uc003mir.2	Q9NX24	OTTHUMG00000130886	ENST00000274606.3:c.301C>T	5.37:g.177577924G>A	ENSP00000274606:p.Arg101*					NHP2_ENST00000314397.4_Intron	p.R101*	NM_017838.3	NP_060308.1	Q9NX24	NHP2_HUMAN			3	450	-			101					A6NKY8|Q9P095	Nonsense_Mutation	SNP	ENST00000274606.3	37	c.301C>T	CCDS4432.1	.	.	.	.	.	.	.	.	.	.	g	19.48	3.836198	0.71373	.	.	ENSG00000145912	ENST00000274606;ENST00000502263;ENST00000514354;ENST00000511078	.	.	.	5.22	5.22	0.72569	.	0.110503	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-15.1705	16.2705	0.82616	0.0:0.0:1.0:0.0	.	.	.	.	X	101;54;101;101	.	ENSP00000274606:R101X	R	-	1	2	NHP2	177510530	1.000000	0.71417	0.982000	0.44146	0.668000	0.39293	2.323000	0.43823	2.419000	0.82065	0.563000	0.77884	CGA		0.512	NHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253471.1	NM_017838		6	215	0	0	0	1	0	6	215					A	177577924	G	A	177577924	4	1	442	1	0	0	0	0	0	1	0	0	10409	1124	39	2	168	2	NHP2	5	177577924	Nonsense_Mutation	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08	75992486	177577924	3337336	18	30408											
GPLD1	2822	broad.mit.edu	37	chr6	24463024	24463024	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggcaggttgcagtcaCtgaggaaacagtcaaatgag	13	8	12	8	0	3	2	3	2	1	0	4	3	3	3	0	3	2	3	0	3	2	1			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr6:24463024C>T	ENST00000230036.1	-	11	932		c.e11-1			NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1						cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GTTGCAGTCACTGAGGAAACA	0.443																																						ENST00000230036.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.e11-1		glycosylphosphatidylinositol specific phospholipase D1							123	120	121					6																	24463024		2203	4300	6503	SO:0001630	splice_region_variant	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24463024C>T	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.822-1G>A	6.37:g.24463024C>T								NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN			11	932	-								Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Splice_Site	SNP	ENST00000230036.1	37		CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799787	0.31869	.	.	ENSG00000112293	ENST00000230036	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9003	0.86112	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPLD1	24571003	1.000000	0.71417	0.974000	0.42286	0.075000	0.17131	4.520000	0.60524	2.726000	0.93360	0.655000	0.94253	.		0.443	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503	Intron	28	38	0	0	0	1	0	28	38					T	24463024	C	T	24463024	5	4	442	1	0	0	0	0	0	0	1	0	6614	579	20	3	1761	3	GPLD1	6	24463024	Splice_Site	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08		24463024	146652043	19	30409											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26199806	26199806	+	Frame_Shift_Del	DEL	C	C	-																															catgcctgaacctgctaagtCcgctcctgctccaaaaaagg																										TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr6:26199806delC	ENST00000359985.1	+	1	59	c.20delC	c.(19-21)tccfs	p.S7fs	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	7					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CCTGCTAAGTCCGCTCCTGCT	0.493																																						ENST00000359985.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(19-21)tcfs		histone cluster 1, H2bf							95	92	93					6																	26199806		2203	4300	6503	SO:0001589	frameshift_variant	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26199806delC	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"Histones / Replication-dependent"	4752	protein-coding gene	gene with protein product		602804	"H2B histone family, member G", "histone 1, H2bf"	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.20delC	6.37:g.26199806delC	ENSP00000353074:p.Ser7fs						p.S7fs	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN			1	59	+		all_hematologic(11;0.196)	7					P02278|Q3B872|Q4VB69|Q93078|Q93080	Frame_Shift_Del	DEL	ENST00000359985.1	37	c.20delC	CCDS4592.1																																																																																				0.493	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		29	60						29	60	---	---	---	---	-	26199806	C	-	26199806	7	5	442	1	0	1	0	1	0	0	0	0	7145	855	30	0	22	0	HIST1H2BF	6	26199806	Frame_Shift_Del	DEL	C	TCGA-XK-AAK1-01A-11D-A41K-08	1736782	26199806	144915261	20	30410											
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217409	26217409	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttagagctagctggcaaCgcggctcgcgacaataagaa	13	7	11	10	4	1	2	0	0	1	2	2	3	1	2	0	2	3	4	0	2	6	3			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr6:26217409C>G	ENST00000303910.2	+	1	245	c.207C>G	c.(205-207)aaC>aaG	p.N69K	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	69						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TAGCTGGCAACGCGGCTCGCG	0.597																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(205-207)aaC>aaG		histone cluster 1, H2ae							61	62	61					6																	26217409		2203	4300	6503	SO:0001583	missense	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217409C>G	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"Histones / Replication-dependent"	4724	protein-coding gene	gene with protein product		602786	"H2A histone family, member A", "histone 1, H2ae"	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.207C>G	6.37:g.26217409C>G	ENSP00000303373:p.Asn69Lys						p.N69K	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN			1	245	+		all_hematologic(11;0.196)	69					P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	c.207C>G	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	13.45	2.240609	0.39598	.	.	ENSG00000168274	ENST00000303910	T	0.68624	-0.34	4.07	3.2	0.36748	.	0.000000	0.36740	U	0.002429	T	0.78266	0.4256	M	0.92317	3.295	0.44531	D	0.997487	.	.	.	.	.	.	T	0.82942	-0.0207	8	0.87932	D	0	.	11.2364	0.48942	0.0:0.909:0.0:0.091	.	.	.	.	K	69	ENSP00000303373:N69K	ENSP00000303373:N69K	N	+	3	2	HIST1H2AE	26325388	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	3.055000	0.49916	1.056000	0.40484	0.650000	0.86243	AAC		0.597	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		20	43	0	0	0	1	0	20	43					G	26217409	C	G	26217409	3	3	442	1	0	0	0	0	1	0	0	0	7132	535	19	5	209	5	HIST1H2AE	6	26217409	Missense_Mutation	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08	17603	26217409	144897658	21	30411											
TBX18	9096	broad.mit.edu	37	chr6	85466464	85466464	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgagcttcagcttgtcgaaGctgataacttgtctcatcca	9	13	9	10	1	2	2	2	2	1	0	5	3	3	2	1	0	4	3	1	0	2	4			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr6:85466464G>A	ENST00000369663.5	-	4	1060	c.723C>T	c.(721-723)agC>agT	p.S241S	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Silent_p.S83S	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	241					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GCTTGTCGAAGCTGATAACTT	0.527																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(721-723)agC>agT		T-box 18							164	118	133					6																	85466464		2203	4300	6503	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85466464G>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.723C>T	6.37:g.85466464G>A						TBX18_ENST00000606784.1_Silent_p.S83S|TBX18_ENST00000606521.1_5'UTR	p.S241S	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	4	1060	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	241					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.723C>T	CCDS34495.1																																																																																				0.527	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		21	12	0	0	0	1	0	21	12					A	85466464	G	A	85466464	2	1	442	1	0	0	0	0	0	0	0	1	15650	962	34	3		3	TBX18	6	85466464	Silent	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08	59249055	85466464	85648603	22	30412											
THSD7A	221981	broad.mit.edu	37	chr7	11464354	11464354	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgcacgccctctccacAgttctcccgcatattcacaa	8	11	6	16	2	3	0	1	0	2	0	5	0	3	0	3	1	1	4	3	1	2	4			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr7:11464354A>C	ENST00000423059.4	-	16	3603	c.3352T>G	c.(3352-3354)Tgt>Ggt	p.C1118G	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1118	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		CCCTCTCCACAGTTCTCCCGC	0.483										HNSCC(18;0.044)																												ENST00000423059.3																			0				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						c.(3352-3354)Tgt>Ggt		thrombospondin, type I, domain containing 7A							236	222	226					7																	11464354		1985	4173	6158	SO:0001583	missense	221981					integral to membrane		g.chr7:11464354A>C		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3352T>G	7.37:g.11464354A>C	ENSP00000406482:p.Cys1118Gly	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.C1118G	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	16	3603	-			1118			TSP type-1 11.			Missense_Mutation	SNP	ENST00000423059.4	37	c.3352T>G	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.467969	0.84533	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.79247	-1.25	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.91446	0.7300	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93679	0.6997	10	0.87932	D	0	.	16.2303	0.82332	1.0:0.0:0.0:0.0	.	1118	Q9UPZ6	THS7A_HUMAN	G	1118	ENSP00000406482:C1118G	ENSP00000262042:C1118G	C	-	1	0	THSD7A	11430879	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.672000	0.91181	2.233000	0.73108	0.533000	0.62120	TGT		0.483	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		87	116	0	0	0	1	0	87	116					C	11464354	A	C	11464354	3	2	442	1	0	0	0	0	1	0	0	0	15876	188	7	5	1673	5	THSD7A	7	11464354	Missense_Mutation	SNP	A	TCGA-XK-AAK1-01A-11D-A41K-08		11464354	147674309	23	30413											
PIK3CG	5294	broad.mit.edu	37	chr7	106508563	106508563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgaccccgcgcatggCggaggtggccagccgcgacc	5	5	16	15	5	0	1	0	1	0	0	0	3	0	2	5	5	1	1	5	5	0	1			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr7:106508563C>T	ENST00000359195.3	+	2	867	c.557C>T	c.(556-558)gCg>gTg	p.A186V	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A186V|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A186V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	186					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			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						CCGCGCATGGCGGAGGTGGCC	0.637																																						ENST00000359195.3																			0				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						c.(556-558)gCg>gTg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							50	56	54					7																	106508563		2203	4300	6503	SO:0001583	missense	5294				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	g.chr7:106508563C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.557C>T	7.37:g.106508563C>T	ENSP00000352121:p.Ala186Val					PIK3CG_ENST00000496166.1_Missense_Mutation_p.A186V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A186V	p.A186V	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	867	+			186					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.557C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	4.679	0.126186	0.08931	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70516	-0.49;-0.49;-0.49	5.33	3.5	0.40072	.	0.407307	0.28230	N	0.016103	T	0.56485	0.1988	L	0.40543	1.245	0.28627	N	0.907858	B	0.18610	0.029	B	0.08055	0.003	T	0.49995	-0.8879	10	0.38643	T	0.18	-9.345	6.5964	0.22677	0.0:0.6387:0.0:0.3613	.	186	P48736	PK3CG_HUMAN	V	186	ENSP00000392258:A186V;ENSP00000419260:A186V;ENSP00000352121:A186V	ENSP00000352121:A186V	A	+	2	0	PIK3CG	106295799	0.995000	0.38212	0.876000	0.34364	0.256000	0.26092	2.700000	0.47085	1.386000	0.46466	0.467000	0.42956	GCG		0.637	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			23	35	0	0	0	1	0	23	35					T	106508563	C	T	106508563	3	4	442	1	0	0	0	0	1	0	0	0	11916	768	27	1	559	1	PIK3CG	7	106508563	Missense_Mutation	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08	95044209	106508563	52630100	24	30414											
SH2D3C	10044	broad.mit.edu	37	chr9	130511762	130511762	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggcgggcacgtggtcaaaGctctcctgctcaaacaggta	10	7	13	11	2	3	0	2	0	1	0	4	0	3	0	1	4	3	4	1	4	3	1			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr9:130511762G>A	ENST00000314830.8	-	5	980	c.867C>T	c.(865-867)agC>agT	p.S289S	SH2D3C_ENST00000373277.4_Silent_p.S132S|SH2D3C_ENST00000420366.1_Silent_p.S131S|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Silent_p.S129S|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000373276.3_Silent_p.S221S	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	289	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGTGGTCAAAGCTCTCCTGCT	0.597																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(865-867)agC>agT		SH2 domain containing 3C							105	88	94					9																	130511762		2203	4300	6503	SO:0001819	synonymous_variant	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130511762G>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.867C>T	9.37:g.130511762G>A						SH2D3C_ENST00000420366.1_Silent_p.S131S|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Silent_p.S129S|SH2D3C_ENST00000373276.3_Silent_p.S221S|SH2D3C_ENST00000373277.4_Silent_p.S132S	p.S289S	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			5	980	-			289			SH2.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Silent	SNP	ENST00000314830.8	37	c.867C>T	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	9.958	1.221961	0.22457	.	.	ENSG00000095370	ENST00000440630	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	T	0.75034	0.3795	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72789	-0.4187	4	.	.	.	-0.3295	18.7488	0.91806	0.0:0.0:1.0:0.0	.	.	.	.	V	126	.	.	A	-	2	0	SH2D3C	129551583	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.409000	0.44583	2.686000	0.91538	0.561000	0.74099	GCT		0.597	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		17	17	0	0	0	1	0	17	17					A	130511762	G	A	130511762	2	1	442	1	0	0	0	0	0	0	0	1	14234	962	34	3		3	SH2D3C	9	130511762	Silent	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08		130511762	10701669	25	30415											
C10orf71	118461	broad.mit.edu	37	chr10	50531251	50531251	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcacggagaacaggagTcctccaagaatccagaaatg	16	4	12	9	1	0	3	0	0	0	3	3	6	3	5	3	3	2	1	3	3	5	0			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr10:50531251T>A	ENST00000374144.3	+	3	949	c.661T>A	c.(661-663)Tcc>Acc	p.S221T	C10orf71_ENST00000323868.4_Missense_Mutation_p.S221T			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	221										endometrium(1)	1						AGAACAGGAGTCCTCCAAGAA	0.557																																						ENST00000374144.3																			0				endometrium(1)	1						c.(661-663)Tcc>Acc		chromosome 10 open reading frame 71							33	36	35					10																	50531251		2021	4170	6191	SO:0001583	missense	118461							g.chr10:50531251T>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.661T>A	10.37:g.50531251T>A	ENSP00000363259:p.Ser221Thr					C10orf71_ENST00000323868.4_Missense_Mutation_p.S221T	p.S221T			Q711Q0	CJ071_HUMAN			3	949	+			221					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.661T>A	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.786903	0.31593	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.16743	2.32;3.43	5.4	-4.33	0.03677	.	0.633204	0.13979	N	0.349595	T	0.08268	0.0206	L	0.35854	1.095	0.09310	N	1	B	0.20052	0.041	B	0.17433	0.018	T	0.35798	-0.9774	10	0.18276	T	0.48	.	1.3843	0.02236	0.4686:0.1299:0.1916:0.2099	.	221	Q711Q0-3	.	T	221	ENSP00000318713:S221T;ENSP00000363259:S221T	ENSP00000318713:S221T	S	+	1	0	C10orf71	50201257	0.010000	0.17322	0.273000	0.24645	0.899000	0.52679	-0.551000	0.06027	-1.147000	0.02851	0.459000	0.35465	TCC		0.557	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		14	20	0	0	0	1	0	14	20					A	50531251	T	A	50531251	3	1	442	1	0	0	0	0	1	0	0	0	1614	1667	58	5	663	5	C10orf71	10	50531251	Missense_Mutation	SNP	T	TCGA-XK-AAK1-01A-11D-A41K-08		50531251	85003496	26	30416											
RAG2	5897	broad.mit.edu	37	chr11	36615350	36615350	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagtctttctctgtgcaGcgaaaagtaacctttttgtt	10	15	7	9	1	2	0	0	0	2	0	3	1	2	0	2	0	3	3	2	0	4	5	rs369277180		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr11:36615350G>T	ENST00000311485.3	-	2	530	c.369C>A	c.(367-369)cgC>cgA	p.R123R	RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000347206.4_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	123					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			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)				TCTCTGTGCAGCGAAAAGTAA	0.398									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000311485.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32						c.(367-369)cgC>cgA		recombination activating gene 2							152	146	148					11																	36615350		2202	4298	6500	SO:0001819	synonymous_variant	5897	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	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	g.chr11:36615350G>T	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.369C>A	11.37:g.36615350G>T							p.R123R	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN			2	530	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	123					A8K9E9|Q8TBL4	Silent	SNP	ENST00000311485.3	37	c.369C>A	CCDS7903.1																																																																																				0.398	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		36	83	1	0	9.8876e-21	1	1.09623e-20	36	83					T	36615350	G	T	36615350	2	4	442	1	0	0	0	0	0	0	0	1	13005	958	34	5		5	RAG2	11	36615350	Silent	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08		36615350	98391166	27	30417											
AMBRA1	55626	broad.mit.edu	37	chr11	46569885	46569885	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgagcaccccgttctcGcccccagagtatccggacag	7	5	11	18	4	1	1	0	0	1	1	3	3	2	2	6	2	1	3	6	2	1	2			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr11:46569885G>A	ENST00000458649.2	-	2	464	c.46C>T	c.(46-48)Cga>Tga	p.R16*	AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.R16*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	16					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				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)		CCCCGTTCTCGCCCCCAGAGT	0.552																																						ENST00000458649.2																			0				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						c.(46-48)Cga>Tga		autophagy/beclin-1 regulator 1							142	154	150					11																	46569885		2201	4299	6500	SO:0001587	stop_gained	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46569885G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.46C>T	11.37:g.46569885G>A	ENSP00000415327:p.Arg16*					AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.R16*	p.R16*			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	2	464	-			16					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Nonsense_Mutation	SNP	ENST00000458649.2	37	c.46C>T		.	.	.	.	.	.	.	.	.	.	G	36	5.773308	0.96922	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950;ENST00000526606	.	.	.	5.94	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0443	0.71816	0.0:0.0:0.7283:0.2717	.	.	.	.	X	16	.	ENSP00000298834:R16X	R	-	1	2	AMBRA1	46526461	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.777000	0.62361	1.495000	0.48549	0.591000	0.81541	CGA		0.552	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		87	51	0	0	0	1	0	87	51					A	46569885	G	A	46569885	4	1	442	1	0	0	0	0	0	1	0	0	565	1095	38	1	3652	1	AMBRA1	11	46569885	Nonsense_Mutation	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08	9954535	46569885	88436631	28	30418											
KLRF1	51348	broad.mit.edu	37	chr12	9997023	9997023	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcttccctagattcttCataaagggaccagctaaaga	12	12	6	11	0	4	2	1	0	3	2	6	3	5	3	2	1	1	1	2	1	5	6			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr12:9997023C>A	ENST00000279544.3	+	6	661	c.597C>A	c.(595-597)ttC>ttA	p.F199L	KLRF1_ENST00000324214.4_Missense_Mutation_p.F149L|KLRF1_ENST00000537723.1_Nonsense_Mutation_p.S114*|KLRF1_ENST00000354855.3_Nonsense_Mutation_p.S64*	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	199	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						CTAGATTCTTCATAAAGGGAC	0.343																																						ENST00000354855.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						c.(190-192)tCa>tAa		killer cell lectin-like receptor subfamily F, member 1							61	60	60					12																	9997023		1811	4067	5878	SO:0001583	missense	51348				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding	g.chr12:9997023C>A	AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"Killer cell lectin-like receptors", "C-type lectin domain containing"	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.597C>A	12.37:g.9997023C>A	ENSP00000279544:p.Phe199Leu					KLRF1_ENST00000324214.4_Missense_Mutation_p.F149L|KLRF1_ENST00000279544.3_Missense_Mutation_p.F199L|KLRF1_ENST00000537723.1_Nonsense_Mutation_p.S114*	p.S64*			Q9NZS2	KLRF1_HUMAN			3	255	+			0					Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Nonsense_Mutation	SNP	ENST00000279544.3	37	c.191C>A	CCDS41750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.27|10.27	1.304295|1.304295	0.23736|0.23736	.|.	.|.	ENSG00000150045|ENSG00000150045	ENST00000324214;ENST00000279544|ENST00000354855;ENST00000537723	T;T|.	0.18174|.	2.23;2.23|.	2.51|2.51	-0.352|-0.352	0.12598|0.12598	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	.|.	.|.	.|.	.|.	T|.	0.20495|.	0.0493|.	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.06405|.	0.002;0.001|.	T|.	0.27839|.	-1.0062|.	8|.	.|.	.|.	.|.	.|.	4.9614|4.9614	0.14068|0.14068	0.0:0.53:0.0:0.47|0.0:0.53:0.0:0.47	.|.	199;149|.	Q9NZS2;Q9NZS2-2|.	KLRF1_HUMAN;.|.	L|X	149;199|64;114	ENSP00000322487:F149L;ENSP00000279544:F199L|.	.|.	F|S	+|+	3|2	2|0	KLRF1|KLRF1	9888290|9888290	0.010000|0.010000	0.17322|0.17322	0.064000|0.064000	0.19789|0.19789	0.123000|0.123000	0.20343|0.20343	-0.292000|-0.292000	0.08332|0.08332	-0.091000|-0.091000	0.12440|0.12440	-0.259000|-0.259000	0.10710|0.10710	TTC|TCA		0.343	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399535.1	NM_016523		9	33	1	0	2.62144e-13	1	2.78528e-13	9	33					A	9997023	C	A	9997023	3	1	442	1	0	0	0	0	1	0	0	0	8420	825	29	5	619	5	KLRF1	12	9997023	Missense_Mutation	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08		9997023	123854872	29	30419											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100492187	100492187	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctccatgttcccagtgTgcatttacactatagatccg	11	13	6	11	1	1	1	0	0	1	1	4	1	3	1	3	0	2	2	3	0	4	5			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr12:100492187T>C	ENST00000279907.7	-	5	683	c.471A>G	c.(469-471)gcA>gcG	p.A157A	UHRF1BP1L_ENST00000356828.3_Silent_p.A157A	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	157										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						GTTCCCAGTGTGCATTTACAC	0.348																																						ENST00000279907.7																			0				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						c.(469-471)gcA>gcG		UHRF1 binding protein 1-like							112	108	109					12																	100492187		2203	4300	6503	SO:0001819	synonymous_variant	23074							g.chr12:100492187T>C		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.471A>G	12.37:g.100492187T>C						UHRF1BP1L_ENST00000356828.3_Silent_p.A157A	p.A157A	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			5	683	-			157					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	ENST00000279907.7	37	c.471A>G	CCDS31882.1																																																																																				0.348	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		30	51	0	0	0	1	0	30	51					C	100492187	T	C	100492187	2	2	442	1	0	0	0	0	0	0	0	1	16966	1683	59	4		4	UHRF1BP1L	12	100492187	Silent	SNP	T	TCGA-XK-AAK1-01A-11D-A41K-08	90495164	100492187	33359708	30	30420											
SPATA13	221178	broad.mit.edu	37	chr13	24864978	24864978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaagatctgcaaatacccGctgcagctggccgagctgct	10	7	11	13	2	1	2	0	0	1	2	1	3	1	2	2	1	6	6	2	1	3	1			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr13:24864978G>A	ENST00000382095.4	+	8	1568	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P	SPATA13_ENST00000343003.6_Silent_p.P331P|SPATA13_ENST00000382108.3_Silent_p.P1012P|SPATA13_ENST00000399949.2_Silent_p.P309P|SPATA13_ENST00000424834.2_Silent_p.P1012P|RP11-307N16.6_ENST00000382141.4_Silent_p.P890P|SPATA13_ENST00000409126.1_Silent_p.P247P	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	387	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCAAATACCCGCTGCAGCTGG	0.572																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(3034-3036)ccG>ccA		spermatogenesis associated 13							43	44	44					13																	24864978		2203	4300	6503	SO:0001819	synonymous_variant	221178				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	g.chr13:24864978G>A	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1161G>A	13.37:g.24864978G>A						SPATA13_ENST00000399949.2_Silent_p.P309P|SPATA13_ENST00000409126.1_Silent_p.P247P|SPATA13_ENST00000382108.3_Silent_p.P1012P|SPATA13_ENST00000343003.6_Silent_p.P331P|SPATA13_ENST00000382095.4_Silent_p.P387P	p.P1012P			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	11	3509	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	387					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	37	c.3036G>A	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	G	9.418	1.082310	0.20309	.	.	ENSG00000182957	ENST00000424834	.	.	.	5.65	-11.3	0.00108	.	.	.	.	.	T	0.31071	0.0785	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40869	-0.9540	4	.	.	.	.	1.7514	0.02973	0.2478:0.139:0.3931:0.2201	.	.	.	.	T	1050	.	.	A	+	1	0	SPATA13	23762978	0.000000	0.05858	0.217000	0.23759	0.992000	0.81027	-5.048000	0.00156	-2.853000	0.00330	-0.228000	0.12330	GCT		0.572	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		19	24	0	0	0	1	0	19	24					A	24864978	G	A	24864978	2	1	442	1	0	0	0	0	0	0	0	1	14999	1074	38	1		1	SPATA13	13	24864978	Silent	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08		24864978	90304900	31	30421											
MYH7	4625	broad.mit.edu	37	chr14	23888493	23888493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccttctcatccagctgccGggacagctcacctggggaag	7	8	11	15	1	2	0	2	0	1	0	5	2	4	2	4	3	3	2	4	3	1	1	rs180824037		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr14:23888493G>A	ENST00000355349.3	-	29	4027	c.3865C>T	c.(3865-3867)Cgg>Tgg	p.R1289W	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1289					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			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)		TCCAGCTGCCGGGACAGCTCA	0.597																																						ENST00000355349.3																			0				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						c.(3865-3867)Cgg>Tgg		myosin, heavy chain 7, cardiac muscle, beta							86	84	84					14																	23888493		2203	4300	6503	SO:0001583	missense	4625				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	g.chr14:23888493G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3865C>T	14.37:g.23888493G>A	ENSP00000347507:p.Arg1289Trp						p.R1289W	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	29	4027	-	all_cancers(95;2.54e-05)		1289					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.3865C>T	CCDS9601.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.90	3.249437	0.59103	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.81659	-1.52	4.99	2.03	0.26663	Myosin tail (1);	.	.	.	.	D	0.92355	0.7574	H	0.96430	3.82	0.38665	D	0.952172	D	0.89917	1.0	D	0.97110	1.0	D	0.94313	0.7547	9	0.87932	D	0	.	14.718	0.69284	0.0:0.0:0.5128:0.4872	.	1289	P12883	MYH7_HUMAN	W	1289;1294	ENSP00000347507:R1289W	ENSP00000347507:R1289W	R	-	1	2	MYH7	22958333	0.007000	0.16637	0.830000	0.32933	0.993000	0.82548	0.002000	0.13061	0.239000	0.21243	0.655000	0.94253	CGG		0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		17	26	0	0	0	1	0	17	26					A	23888493	G	A	23888493	3	1	442	1	0	0	0	0	1	0	0	0	10039	1115	39	2	1990	2	MYH7	14	23888493	Missense_Mutation	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08		23888493	83461047	32	30422											
C14orf181	677	broad.mit.edu	37	chr14	69262657	69262657	+	5'Flank	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtggtcgacaggtgcccaGgggtggcgggagggcggccc	5	4	21	11	4	0	0	0	0	0	0	1	2	0	1	2	8	1	0	2	8	0	0			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr14:69262657G>C	ENST00000439696.2	-	0	0				ZFP36L1_ENST00000336440.3_5'Flank|ZFP36L1_ENST00000408913.2_Missense_Mutation_p.L119V	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		CAGGTGCCCAGGGGTGGCGGG	0.751																																						ENST00000408913.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(355-357)Ctg>Gtg		ZFP36 ring finger protein-like 1							11	15	13					14																	69262657		2134	4117	6251	SO:0001631	upstream_gene_variant	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69262657G>C	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352			14.37:g.69262657G>C	Exception_encountered						p.L119V			Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	533	-			0					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.355C>G	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	G	7.343	0.621257	0.14193	.	.	ENSG00000185650	ENST00000408913	.	.	.	3.01	-0.843	0.10744	.	.	.	.	.	T	0.34832	0.0911	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39187	-0.9626	5	0.87932	D	0	.	3.263	0.06855	0.3075:0.0:0.4966:0.1959	.	.	.	.	V	119	.	ENSP00000386220:L119V	L	-	1	2	ZFP36L1	68332410	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.596000	0.36718	-0.012000	0.14223	0.407000	0.27541	CTG		0.751	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			9	15	0	0	0	1	0	9	15					C	69262657	G	C	69262657	1	2	442	0	1	0	0	0	0	0	0	0	1764	991	35	5		5	C14orf181	14	69262657	5'Flank	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08	45374164	69262657	38086883	33	30423											
RYR3	6263	broad.mit.edu	37	chr15	33945019	33945019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggagatcggctgtctcGtggatctggccatgggcatg	6	10	15	10	2	2	1	0	0	2	1	4	3	2	2	2	5	0	2	2	5	0	0			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr15:33945019G>A	ENST00000389232.4	+	32	4313	c.4243G>A	c.(4243-4245)Gtg>Atg	p.V1415M	RYR3_ENST00000415757.3_Missense_Mutation_p.V1415M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1415	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGGCTGTCTCGTGGATCTGGC	0.562																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(4243-4245)Gtg>Atg		ryanodine receptor 3							108	111	110					15																	33945019		2038	4205	6243	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33945019G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4243G>A	15.37:g.33945019G>A	ENSP00000373884:p.Val1415Met					RYR3_ENST00000415757.3_Missense_Mutation_p.V1415M	p.V1415M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	32	4313	+		all_lung(180;7.18e-09)	1415			4 X approximate repeats.|B30.2/SPRY 3.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.4243G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898191	0.33535	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.62232	0.04;0.04	5.52	-0.23	0.13090	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.459800	0.22016	N	0.065793	T	0.48943	0.1528	L	0.55213	1.73	0.21445	N	0.999683	P;B	0.41265	0.744;0.332	B;B	0.39094	0.29;0.29	T	0.46965	-0.9153	10	0.87932	D	0	.	3.2353	0.06762	0.1175:0.1202:0.4144:0.3479	.	1415;1415	Q15413-2;Q15413	.;RYR3_HUMAN	M	1415	ENSP00000373884:V1415M;ENSP00000399610:V1415M	ENSP00000354735:V1415M	V	+	1	0	RYR3	31732311	0.750000	0.28316	0.275000	0.24674	0.870000	0.49936	1.219000	0.32479	0.088000	0.17205	-0.175000	0.13238	GTG		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			19	46	0	0	0	1	0	19	46					A	33945019	G	A	33945019	3	1	442	1	0	0	0	0	1	0	0	0	13770	1145	40	1	4369	1	RYR3	15	33945019	Missense_Mutation	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08		33945019	68586373	34	30424											
IQCH	64799	broad.mit.edu	37	chr15	67768050	67768050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgctggcaaccagtcGctatgcagtgatgaccaccc	10	7	10	14	1	0	3	0	2	0	1	1	3	0	3	4	1	3	4	4	1	2	1	rs140009311		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr15:67768050G>A	ENST00000335894.4	+	18	2759	c.2693G>A	c.(2692-2694)cGc>cAc	p.R898H	IQCH_ENST00000360277.4_Missense_Mutation_p.R559H|IQCH_ENST00000358767.3_Missense_Mutation_p.R634H|IQCH_ENST00000546225.1_Missense_Mutation_p.R555H|IQCH-AS1_ENST00000559298.1_lincRNA	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	898										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GCAACCAGTCGCTATGCAGTG	0.403													G|||	1	0.000199681	0	0	5008	,	,		18870	0		0.001	False		,,,				2504	0					ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(2692-2694)cGc>cAc		IQ motif containing H		G	HIS/ARG	0,4402		0,0,2201	140	113	122		2693	5.9	1	15	dbSNP_134	122	4,8594		0,4,4295	yes	missense	IQCH	NM_001031715.2	29	0,4,6496	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	898/1028	67768050	4,12996	2201	4299	6500	SO:0001583	missense	64799							g.chr15:67768050G>A	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2693G>A	15.37:g.67768050G>A	ENSP00000336861:p.Arg898His					IQCH_ENST00000360277.4_Missense_Mutation_p.R559H|IQCH_ENST00000358767.3_Missense_Mutation_p.R634H|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Missense_Mutation_p.R555H	p.R898H	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	18	2759	+			898					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.2693G>A	CCDS32273.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	21.4	4.150076	0.78001	0.0	4.65E-4	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.61742	0.25;0.08;0.2;0.24	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	M	0.82056	2.57	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.994;0.998	T	0.80153	-0.1501	10	0.72032	D	0.01	-12.7038	19.9698	0.97280	0.0:0.0:1.0:0.0	.	555;559;898	Q86VS3-2;Q86VS3-4;Q86VS3	.;.;IQCH_HUMAN	H	634;555;898;559	ENSP00000351617:R634H;ENSP00000444118:R555H;ENSP00000336861:R898H;ENSP00000353419:R559H	ENSP00000336861:R898H	R	+	2	0	IQCH	65555104	1.000000	0.71417	0.993000	0.49108	0.324000	0.28378	5.408000	0.66368	2.817000	0.96982	0.563000	0.77884	CGC		0.403	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		29	41	0	0	0	1	0	29	41					A	67768050	G	A	67768050	3	1	442	1	0	0	0	0	1	0	0	0	7811	1087	38	1	2891	1	IQCH	15	67768050	Missense_Mutation	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08	33823031	67768050	34763342	35	30425											
DNAJA4	55466	broad.mit.edu	37	chr15	78558597	78558597	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagacatgtgggaaagcCtgaccctggattcaggtcaa	13	8	11	9	0	2	2	2	1	0	1	2	4	2	4	2	3	1	0	2	3	4	2	rs541929187		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr15:78558597C>T	ENST00000394852.3	+	1	322				RP11-762H8.3_ENST00000558971.1_RNA|DNAJA4_ENST00000343789.3_Intron|RP11-762H8.3_ENST00000559954.1_RNA|DNAJA4_ENST00000394855.3_Intron|DNAJA4_ENST00000446172.2_Silent_p.L5L	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4						negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						GTGGGAAAGCCTGACCCTGGA	0.423													C|||	1	0.000199681	8e-04	0	5008	,	,		20730	0		0	False		,,,				2504	0					ENST00000446172.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						c.(13-15)Ctg>Ttg		DnaJ (Hsp40) homolog, subfamily A, member 4							83	79	80					15																	78558597		1561	3575	5136	SO:0001627	intron_variant	55466				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr15:78558597C>T	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"Heat shock proteins / DNAJ (HSP40)"	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.132+1360C>T	15.37:g.78558597C>T						DNAJA4_ENST00000394852.3_Intron|DNAJA4_ENST00000394855.3_Intron|DNAJA4_ENST00000343789.3_Intron	p.L5L	NM_001130183.1	NP_001123655.1	Q8WW22	DNJA4_HUMAN			1	75	+			0			J.		E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Silent	SNP	ENST00000394852.3	37	c.13C>T	CCDS45316.1																																																																																				0.423	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602		18	16	0	0	0	1	0	18	16					T	78558597	C	T	78558597	1	4	442	0	1	0	0	0	0	0	0	0	4614	680	24	3		3	DNAJA4	15	78558597	Intron	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08	10790547	78558597	23972795	36	30426											
SLC9A5	6553	broad.mit.edu	37	chr16	67289815	67289815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcactgctgaaatggcctCgctctccgccattcttgcgt	5	12	8	16	3	3	1	1	1	2	0	5	1	3	1	4	1	2	2	4	1	1	2			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr16:67289815C>T	ENST00000299798.11	+	5	958	c.893C>T	c.(892-894)tCg>tTg	p.S298L	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	298					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			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)		GAAATGGCCTCGCTCTCCGCC	0.627																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(892-894)tCg>tTg		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							33	34	34					16																	67289815		2154	4265	6419	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67289815C>T		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.893C>T	16.37:g.67289815C>T	ENSP00000299798:p.Ser298Leu					SLC9A5_ENST00000561472.2_3'UTR	p.S298L	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	5	958	+		Ovarian(137;0.0563)	298					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.893C>T	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713905	0.68730	.	.	ENSG00000135740	ENST00000299798	T	0.15834	2.39	5.83	4.87	0.63330	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.61218	1.895	0.47949	D	0.999553	D	0.67145	0.996	P	0.58331	0.837	T	0.09773	-1.0659	10	0.54805	T	0.06	.	15.4387	0.75165	0.1399:0.8601:0.0:0.0	.	298	Q14940	SL9A5_HUMAN	L	298	ENSP00000299798:S298L	ENSP00000299798:S298L	S	+	2	0	SLC9A5	65847316	1.000000	0.71417	0.890000	0.34922	0.970000	0.65996	4.865000	0.62998	1.471000	0.48121	0.650000	0.86243	TCG		0.627	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			26	35	0	0	0	1	0	26	35					T	67289815	C	T	67289815	3	4	442	1	0	0	0	0	1	0	0	0	14717	893	31	2	911	2	SLC9A5	16	67289815	Missense_Mutation	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08		67289815	23064938	37	30427											
TSHZ1	10194	broad.mit.edu	37	chr18	72997682	72997682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagtgtcccgacagcgtctCgtacccccaggacagcctgg	7	6	12	16	3	1	0	0	0	1	0	3	2	2	1	4	2	3	2	4	2	1	1			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr18:72997682C>T	ENST00000580243.1	+	2	668	c.320C>T	c.(319-321)tCg>tTg	p.S107L	TSHZ1_ENST00000322038.5_Missense_Mutation_p.S62L			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	107	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GACAGCGTCTCGTACCCCCAG	0.552																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(184-186)tCg>tTg		teashirt zinc finger homeobox 1							97	80	86					18																	72997682		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72997682C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.320C>T	18.37:g.72997682C>T	ENSP00000464391:p.Ser107Leu					TSHZ1_ENST00000580243.1_Missense_Mutation_p.S107L	p.S62L	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	769	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	107			Ser-rich.		O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.185C>T		.	.	.	.	.	.	.	.	.	.	C	8.439	0.850361	0.17034	.	.	ENSG00000179981	ENST00000322038	T	0.11930	2.73	4.96	4.96	0.65561	.	0.236192	0.36167	N	0.002755	T	0.17450	0.0419	L	0.46157	1.445	0.26447	N	0.97568	B	0.09022	0.002	B	0.04013	0.001	T	0.26985	-1.0087	10	0.49607	T	0.09	-23.2113	18.2277	0.89923	0.0:1.0:0.0:0.0	.	107	Q6ZSZ6	TSH1_HUMAN	L	62	ENSP00000323584:S62L	ENSP00000323584:S62L	S	+	2	0	TSHZ1	71126670	1.000000	0.71417	0.325000	0.25375	0.076000	0.17211	5.389000	0.66255	-1.760000	0.01312	-4.989000	0.00002	TCG		0.552	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		22	30	0	0	0	1	0	22	30					T	72997682	C	T	72997682	3	4	442	1	0	0	0	0	1	0	0	0	16620	893	31	2	187	2	TSHZ1	18	72997682	Missense_Mutation	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08		72997682	5079566	38	30428											
MUC16	94025	broad.mit.edu	37	chr19	9075658	9075658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagaaggggcaattctctCatatgggctgcttttccaac	9	12	9	11	0	3	1	2	0	1	1	5	1	4	1	1	3	2	3	1	3	4	4			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr19:9075658C>T	ENST00000397910.4	-	3	11991	c.11788G>A	c.(11788-11790)Gag>Aag	p.E3930K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3931	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				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						GCAATTCTCTCATATGGGCTG	0.493																																						ENST00000397910.4																			0				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						c.(11788-11790)Gag>Aag		mucin 16, cell surface associated							69	65	66					19																	9075658		1930	4115	6045	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075658C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11788G>A	19.37:g.9075658C>T	ENSP00000381008:p.Glu3930Lys						p.E3930K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	11991	-			3931			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.11788G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	7.845	0.722793	0.15439	.	.	ENSG00000181143	ENST00000397910	T	0.29142	1.58	1.98	1.98	0.26296	.	.	.	.	.	T	0.24736	0.0600	N	0.08118	0	.	.	.	P	0.52061	0.95	P	0.54965	0.765	T	0.28586	-1.0039	8	0.87932	D	0	.	7.4693	0.27340	0.0:1.0:0.0:0.0	.	3930	B5ME49	.	K	3930	ENSP00000381008:E3930K	ENSP00000381008:E3930K	E	-	1	0	MUC16	8936658	0.000000	0.05858	0.002000	0.10522	0.056000	0.15407	0.216000	0.17585	1.413000	0.46997	0.313000	0.20887	GAG		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	14	0	0	0	1	0	13	14					T	9075658	C	T	9075658	3	4	442	1	0	0	0	0	1	0	0	0	9973	835	29	3	32063	3	MUC16	19	9075658	Missense_Mutation	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08		9075658	50053325	39	30429											
LDLR	3949	broad.mit.edu	37	chr19	11224234	11224234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagcttgacagagcccacgGcgtctcttcctatgacaccg	8	8	9	16	3	1	3	0	2	1	1	3	3	2	3	4	1	2	1	4	1	1	3			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr19:11224234G>A	ENST00000558518.1	+	10	1569	c.1382G>A	c.(1381-1383)gGc>gAc	p.G461D	LDLR_ENST00000535915.1_Missense_Mutation_p.G420D|LDLR_ENST00000557933.1_Missense_Mutation_p.G461D|LDLR_ENST00000545707.1_Missense_Mutation_p.G334D|LDLR_ENST00000455727.2_Missense_Mutation_p.G293D|LDLR_ENST00000558013.1_Missense_Mutation_p.G461D	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	461					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	AGAGCCCACGGCGTCTCTTCC	0.637																																					GBM(18;201 575 7820 21545)	ENST00000558518.1																			1	Unknown(1)	p.?(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1381-1383)gGc>gAc		low density lipoprotein receptor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						42	40	41					19																	11224234		2203	4300	6503	SO:0001583	missense	3949				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	g.chr19:11224234G>A	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1382G>A	19.37:g.11224234G>A	ENSP00000454071:p.Gly461Asp					LDLR_ENST00000455727.2_Missense_Mutation_p.G293D|LDLR_ENST00000558013.1_Missense_Mutation_p.G461D|LDLR_ENST00000557933.1_Missense_Mutation_p.G461D|LDLR_ENST00000535915.1_Missense_Mutation_p.G420D|LDLR_ENST00000545707.1_Missense_Mutation_p.G334D	p.G461D	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	10	1569	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	461					B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.1382G>A	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	0.485	-0.878274	0.02550	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.99176	-5.52;-5.52;-5.52	4.55	1.15	0.20763	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	1.267580	0.05682	N	0.590638	D	0.94515	0.8234	N	0.10645	0.015	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.17098	0.016;0.008;0.017;0.006;0.006;0.006	D	0.90920	0.4782	10	0.05959	T	0.93	.	6.401	0.21638	0.4738:0.0:0.5262:0.0	.	293;334;340;420;473;461	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	D	461;334;420;293	ENSP00000437639:G334D;ENSP00000440520:G420D;ENSP00000397829:G293D	ENSP00000252444:G461D	G	+	2	0	LDLR	11085234	0.933000	0.31639	0.000000	0.03702	0.001000	0.01503	1.984000	0.40658	0.349000	0.23975	0.555000	0.69702	GGC		0.637	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			16	25	0	0	0	1	0	16	25					A	11224234	G	A	11224234	3	1	442	1	0	0	0	0	1	0	0	0	8704	1203	42	3	1420	3	LDLR	19	11224234	Missense_Mutation	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08	2148576	11224234	47904749	40	30430											
CD97	976	broad.mit.edu	37	chr19	14507991	14507991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgcccgggctggcaacCgattccggggtcccccaatg	5	6	13	17	4	0	0	0	0	0	0	2	1	2	0	6	4	2	2	6	4	2	1	rs367579729		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr19:14507991C>T	ENST00000242786.5	+	6	661	c.581C>T	c.(580-582)cCg>cTg	p.P194L	CD97_ENST00000587728.1_Intron|CD97_ENST00000357355.3_Intron|CD97_ENST00000358600.3_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	194	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGCTGGCAACCGATTCCGGGG	0.582																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(580-582)cCg>cTg		CD97 molecule		C	,,LEU/PRO	0,4406		0,0,2203	93	96	95		,,581	3.5	0.1	19		95	1,8593	1.2+/-3.3	0,1,4296	no	intron,intron,missense	CD97	NM_001025160.2,NM_001784.4,NM_078481.3	,,98	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,,probably-damaging	,,194/836	14507991	1,12999	2203	4297	6500	SO:0001583	missense	976				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	g.chr19:14507991C>T		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.581C>T	19.37:g.14507991C>T	ENSP00000242786:p.Pro194Leu					CD97_ENST00000587728.1_Intron|CD97_ENST00000357355.3_Intron|CD97_ENST00000358600.3_Intron	p.P194L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			6	661	+			194			EGF-like 4; calcium-binding (Potential).		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.581C>T	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	c	14.16	2.451602	0.43531	0.0	1.16E-4	ENSG00000123146	ENST00000242786	D	0.85556	-2.0	3.53	3.53	0.40419	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.81884	0.4917	N	0.12746	0.255	0.26514	N	0.974557	D	0.76494	0.999	P	0.61003	0.882	T	0.71659	-0.4526	9	0.33141	T	0.24	.	10.8838	0.46955	0.0:1.0:0.0:0.0	.	194	P48960	CD97_HUMAN	L	194	ENSP00000242786:P194L	ENSP00000242786:P194L	P	+	2	0	CD97	14368991	0.502000	0.26107	0.099000	0.21106	0.012000	0.07955	2.426000	0.44731	2.271000	0.75665	0.556000	0.70494	CCG		0.582	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		43	73	0	0	0	1	0	43	73					T	14507991	C	T	14507991	3	4	442	1	0	0	0	0	1	0	0	0	3049	652	23	2	603	2	CD97	19	14507991	Missense_Mutation	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08	3283757	14507991	44620992	41	30431											
RYR1	6261	broad.mit.edu	37	chr19	39038896	39038896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggtgaacggcatgatcGcccggcagatggtggacatg	9	7	16	9	4	0	3	0	2	0	1	1	4	0	4	1	5	1	2	1	5	1	0	rs374441925		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr19:39038896G>A	ENST00000359596.3	+	89	12118	c.12118G>A	c.(12118-12120)Gcc>Acc	p.A4040T	RYR1_ENST00000360985.3_Missense_Mutation_p.A4035T|RYR1_ENST00000355481.4_Missense_Mutation_p.A4035T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4040					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.A4040T(2)		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)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGGCATGATCGCCCGGCAGAT	0.577																																						ENST00000355481.4																			2	Substitution - Missense(2)	p.A4040T(2)	endometrium(1)|kidney(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						c.(12103-12105)Gcc>Acc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	147	106	120		12118,12103	4.2	1	19		120	0,8600		0,0,4300	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	4040/5039,4035/5034	39038896	1,13005	2203	4300	6503	SO:0001583	missense	6261				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	g.chr19:39038896G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12118G>A	19.37:g.39038896G>A	ENSP00000352608:p.Ala4040Thr					RYR1_ENST00000360985.3_Missense_Mutation_p.A4035T|RYR1_ENST00000359596.3_Missense_Mutation_p.A4040T	p.A4035T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		88	12234	+	all_cancers(60;7.91e-06)		4040					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.12103G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331379	0.60853	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.65549	-0.16;-0.16;-0.16	4.19	4.19	0.49359	.	0.000000	0.64402	U	0.000003	T	0.67822	0.2934	L	0.38175	1.15	0.48511	D	0.999669	D;D;D	0.71674	0.998;0.996;0.992	P;P;P	0.59115	0.852;0.688;0.491	T	0.72978	-0.4127	10	0.87932	D	0	.	16.7047	0.85368	0.0:0.0:1.0:0.0	.	4035;4035;4040	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	T	4040;4035;4035	ENSP00000352608:A4040T;ENSP00000347667:A4035T;ENSP00000354254:A4035T	ENSP00000347667:A4035T	A	+	1	0	RYR1	43730736	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	9.520000	0.98027	2.344000	0.79699	0.561000	0.74099	GCC		0.577	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			11	31	0	0	0	1	0	11	31					A	39038896	G	A	39038896	3	1	442	1	0	0	0	0	1	0	0	0	13768	1087	38	1	12472	1	RYR1	19	39038896	Missense_Mutation	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08	24530905	39038896	20090087	42	30432											
ABHD12	26090	broad.mit.edu	37	chr20	25300846	25300846	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccctcacctggtacctgcGttcccatgcaggtacagaat	8	10	8	15	1	1	1	1	0	0	1	3	1	3	1	4	2	4	4	4	2	3	3			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr20:25300846G>A	ENST00000339157.5	-	4	803	c.531C>T	c.(529-531)aaC>aaT	p.N177N	ABHD12_ENST00000376542.3_Silent_p.N177N	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	177					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						TGGTACCTGCGTTCCCATGCA	0.572																																						ENST00000339157.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						c.(529-531)aaC>aaT		abhydrolase domain containing 12							101	75	84					20																	25300846		2203	4300	6503	SO:0001819	synonymous_variant	26090					integral to membrane	acylglycerol lipase activity	g.chr20:25300846G>A	AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"Abhydrolase domain containing"	15868	protein-coding gene	gene with protein product		613599	"chromosome 20 open reading frame 22"	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.531C>T	20.37:g.25300846G>A						ABHD12_ENST00000376542.3_Silent_p.N177N	p.N177N	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN			4	803	-			177					A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Silent	SNP	ENST00000339157.5	37	c.531C>T	CCDS42857.1																																																																																				0.572	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2	NM_015600		4	31	0	0	0	1	0	4	31					A	25300846	G	A	25300846	2	1	442	1	0	0	0	0	0	0	0	1	76	1136	40	1		1	ABHD12	20	25300846	Silent	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08		25300846	37724674	43	30433											
MMP9	4318	broad.mit.edu	37	chr20	44639815	44639815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggaaacgcagatggcgCggcctgccacttccccttca	7	9	11	14	3	1	1	1	0	0	1	2	2	2	2	4	3	2	2	4	3	1	3			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr20:44639815C>T	ENST00000372330.3	+	5	702	c.683C>T	c.(682-684)gCg>gTg	p.A228V	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	228	Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GCAGATGGCGCGGCCTGCCAC	0.637																																						ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(682-684)gCg>gTg		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						94	105	102					20																	44639815		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44639815C>T		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.683C>T	20.37:g.44639815C>T	ENSP00000361405:p.Ala228Val						p.A228V	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			5	702	+		Myeloproliferative disorder(115;0.0122)	228			Fibronectin type-II 1.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.683C>T	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634706	0.87660	.	.	ENSG00000100985	ENST00000372330	T	0.10288	2.89	4.56	4.56	0.56223	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.103114	0.64402	D	0.000002	T	0.26702	0.0653	M	0.78801	2.425	0.80722	D	1	D	0.62365	0.991	P	0.54238	0.746	T	0.02610	-1.1134	10	0.31617	T	0.26	.	16.8574	0.86009	0.0:1.0:0.0:0.0	.	228	P14780	MMP9_HUMAN	V	228	ENSP00000361405:A228V	ENSP00000361405:A228V	A	+	2	0	MMP9	44073222	0.990000	0.36364	0.990000	0.47175	0.975000	0.68041	2.966000	0.49208	2.514000	0.84764	0.650000	0.86243	GCG		0.637	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			104	120	0	0	0	1	0	104	120					T	44639815	C	T	44639815	3	4	442	1	0	0	0	0	1	0	0	0	9669	768	27	1	701	1	MMP9	20	44639815	Missense_Mutation	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08	19338969	44639815	18385705	44	30434											
MMP9	4318	broad.mit.edu	37	chr20	44642001	44642001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactgtccacccctcagagCgccccacagctggccccaca	8	4	7	22	1	1	1	1	0	0	1	2	1	2	1	8	1	2	1	8	1	0	0			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr20:44642001C>T	ENST00000372330.3	+	9	1457	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	480					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CCCCTCAGAGCgccccacagc	0.706											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(1438-1440)Cgc>Tgc		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						24	32	29					20																	44642001		2198	4291	6489	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44642001C>T		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1438C>T	20.37:g.44642001C>T	ENSP00000361405:p.Arg480Cys		OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925		p.R480C	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			9	1457	+		Myeloproliferative disorder(115;0.0122)	480					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.1438C>T	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391240	0.42410	.	.	ENSG00000100985	ENST00000372330	T	0.20881	2.04	4.56	-3.24	0.05094	.	2.464840	0.02096	N	0.053549	T	0.14227	0.0344	N	0.08118	0	0.09310	N	1	P	0.50710	0.938	P	0.45946	0.498	T	0.19976	-1.0289	10	0.37606	T	0.19	.	9.7053	0.40211	0.3416:0.1871:0.4713:0.0	.	480	P14780	MMP9_HUMAN	C	480	ENSP00000361405:R480C	ENSP00000361405:R480C	R	+	1	0	MMP9	44075408	0.000000	0.05858	0.000000	0.03702	0.550000	0.35303	-0.077000	0.11394	-0.833000	0.04245	0.655000	0.94253	CGC		0.706	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			20	30	0	0	0	1	0	20	30					T	44642001	C	T	44642001	3	4	442	1	0	0	0	0	1	0	0	0	9669	768	27	1	1472	1	MMP9	20	44642001	Missense_Mutation	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08	2186	44642001	18383519	45	30435											
BAGE2	85319	broad.mit.edu	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	16	7	12	6	1	0	2	0	1	0	1	1	3	0	2	0	3	3	4	0	3	6	2			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								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)		AAATGCACATCGCTGAAAGGG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							92	70	77					21																	11058322		692	1591	2283			85319							g.chr21:11058322C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058322C>T												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)	0	325	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		11	176	0	0	0	1	0	11	176					T	11058322	C	T	11058322	1	4	442	0	1	0	0	0	0	0	0	0	1292	898	31	2		2	BAGE2	21	11058322	RNA	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08		11058322	37071573	46	30436											
UBASH3A	53347	broad.mit.edu	37	chr21	43829693	43829693	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatgaggtcttcccacaCgtgacactctgtgacttctt	7	13	8	13	1	4	3	1	3	3	0	5	3	5	3	1	1	0	1	1	1	0	3	rs192044505		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr21:43829693C>T	ENST00000319294.6	+	3	361	c.330C>T	c.(328-330)caC>caT	p.H110H	UBASH3A_ENST00000398367.1_Silent_p.H110H|UBASH3A_ENST00000450356.1_Silent_p.H110H|UBASH3A_ENST00000291535.6_Silent_p.H110H	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	110					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TCTTCCCACACGTGACACTCT	0.532													C|||	1	0.000199681	0	0	5008	,	,		20639	0.001		0	False		,,,				2504	0					ENST00000319294.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(328-330)caC>caT		ubiquitin associated and SH3 domain containing A							130	112	118					21																	43829693		2203	4300	6503	SO:0001819	synonymous_variant	53347					cytosol|nucleus		g.chr21:43829693C>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.330C>T	21.37:g.43829693C>T						UBASH3A_ENST00000291535.6_Silent_p.H110H|UBASH3A_ENST00000398367.1_Silent_p.H110H|UBASH3A_ENST00000450356.1_Silent_p.H110H	p.H110H	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN			3	361	+			110					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Silent	SNP	ENST00000319294.6	37	c.330C>T	CCDS13687.1																																																																																				0.532	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		35	51	0	0	0	1	0	35	51					T	43829693	C	T	43829693	2	4	442	1	0	0	0	0	0	0	0	1	16836	535	19	1		1	UBASH3A	21	43829693	Silent	SNP	C	TCGA-XK-AAK1-01A-11D-A41K-08	32771371	43829693	4300202	47	30437											
KDM6A	7403	broad.mit.edu	37	chrX	44949155	44949155	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgcaacaacattgcttGgaatgttggtccacttacag	10	12	10	9	0	0	0	0	0	0	0	1	1	1	1	1	3	5	3	1	3	4	4			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chrX:44949155G>A	ENST00000377967.4	+	25	3757	c.3716G>A	c.(3715-3717)tGg>tAg	p.W1239*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.W1160*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.W1246*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.W1194*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1239	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AACATTGCTTGGAATGTTGGT	0.363			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(3715-3717)tGg>tAg		lysine (K)-specific demethylase 6A							123	102	109					X																	44949155		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44949155G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3716G>A	X.37:g.44949155G>A	ENSP00000367203:p.Trp1239*					KDM6A_ENST00000543216.1_Nonsense_Mutation_p.W1160*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.W1246*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.W1194*	p.W1239*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			25	3757	+			1239			JmjC.		Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.3716G>A	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	40	8.474892	0.98827	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7525	18.2517	0.90006	0.0:0.0:1.0:0.0	.	.	.	.	X	936;1239;1194;1246;1160	.	ENSP00000334340:W936X	W	+	2	0	KDM6A	44834099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.358000	0.97109	2.249000	0.74217	0.468000	0.43344	TGG		0.363	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		14	5	0	0	0	1	0	14	5					A	44949155	G	A	44949155	4	1	442	1	0	0	0	0	0	1	0	0	8137	1357	47	3	3814	3	KDM6A	23	44949155	Nonsense_Mutation	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08		44949155	110321405	48	30438											
WDR13	64743	broad.mit.edu	37	chrX	48462709	48462709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagagaagcttccccatcGagcagagctcacatcctgtg	11	8	10	12	1	1	3	1	1	0	2	4	5	3	3	3	0	3	3	3	0	2	1			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chrX:48462709G>A	ENST00000218056.5	+	8	1709	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	WDR13_ENST00000376729.5_Missense_Mutation_p.E402K	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	402						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CTTCCCCATCGAGCAGAGCTC	0.612																																						ENST00000218056.5																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						c.(1204-1206)Gag>Aag		WD repeat domain 13							86	64	71					X																	48462709		2203	4300	6503	SO:0001583	missense	64743					cytoplasm|nucleus		g.chrX:48462709G>A	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"WD repeat domain containing"	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.1204G>A	X.37:g.48462709G>A	ENSP00000218056:p.Glu402Lys						p.E402K	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN			8	1709	+			402					Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	c.1204G>A	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	G	9.052	0.992384	0.18966	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.65178	-0.14;-0.14	5.74	4.83	0.62350	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.109185	0.64402	D	0.000006	T	0.29684	0.0741	N	0.02142	-0.665	0.41042	D	0.985233	B	0.02656	0.0	B	0.04013	0.001	T	0.34104	-0.9842	10	0.05525	T	0.97	-12.1882	11.1891	0.48675	0.0:0.309:0.691:0.0	.	402	Q9H1Z4	WDR13_HUMAN	K	402	ENSP00000365919:E402K;ENSP00000218056:E402K	ENSP00000218056:E402K	E	+	1	0	WDR13	48347653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.961000	0.56759	2.400000	0.81607	0.597000	0.82753	GAG		0.612	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			10	3	0	0	0	1	0	10	3					A	48462709	G	A	48462709	3	1	442	1	0	0	0	0	1	0	0	0	17272	1059	37	2	1234	2	WDR13	23	48462709	Missense_Mutation	SNP	G	TCGA-XK-AAK1-01A-11D-A41K-08	3513554	48462709	106807851	49	30439											
WAS	7454	broad.mit.edu	37	chrX	48543988	48543988	+	Frame_Shift_Del	DEL	C	C	-																															ctcacagcttgtctactccaCccccacccccttcttccaca																										TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chrX:48543988delC	ENST00000376701.4	+	3	401	c.326delC	c.(325-327)accfs	p.T109fs	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	109	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			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)				GTCTACTCCACCCCCACCCCC	0.622			"Mis, N, F, S"			lymphoma																																ENST00000376701.4				X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	"Mis, N, F, S"	Wiskott-Aldrich syndrome			L		lymphoma			0				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						c.(325-327)acfs		Wiskott-Aldrich syndrome							76	51	59					X																	48543988		2202	4293	6495	SO:0001589	frameshift_variant	7454				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48543988delC	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"eczema-thrombocytopenia"	300392	"thrombocytopenia 1 (X-linked)", "Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.326delC	X.37:g.48543988delC	ENSP00000365891:p.Thr109fs					WAS_ENST00000483750.1_3'UTR	p.T109fs	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN			3	401	+		all_lung(315;1.27e-10)	109			WH1.		Q9BU11|Q9UNJ9	Frame_Shift_Del	DEL	ENST00000376701.4	37	c.326delC	CCDS14303.1																																																																																				0.622	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		2	4						2	4	---	---	---	---	-	48543988	C	-	48543988	7	5	442	1	0	1	0	1	0	0	0	0	17248	507	18	0	336	0	WAS	23	48543988	Frame_Shift_Del	DEL	C	TCGA-XK-AAK1-01A-11D-A41K-08	81279	48543988	106726572	50	30440											
AHDC1	27245	broad.mit.edu	37	chr1	27874315	27874315	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtgggcctgggctgcagCtgcgtggcccaggctggccc	3	6	18	14	1	0	0	0	0	0	0	0	0	0	0	3	6	3	4	3	6	0	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:27874315C>G	ENST00000247087.5	-	5	4908	c.4312G>C	c.(4312-4314)Gct>Cct	p.A1438P	AHDC1_ENST00000374011.2_Missense_Mutation_p.A1438P			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1438							DNA binding (GO:0003677)			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)		TGGGCTGCAGCTGCGTGGCCC	0.682																																						ENST00000374011.2																			0				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						c.(4312-4314)Gct>Cct		AT hook, DNA binding motif, containing 1							9	11	10					1																	27874315		2177	4251	6428	SO:0001583	missense	27245						DNA binding	g.chr1:27874315C>G	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.4312G>C	1.37:g.27874315C>G	ENSP00000247087:p.Ala1438Pro					AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.A1438P	p.A1438P	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		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)	6	5280	-		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)	1438					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.4312G>C	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424213	0.25639	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.48522	0.81;0.81	4.97	2.98	0.34508	.	0.218410	0.38605	N	0.001631	T	0.20292	0.0488	N	0.03608	-0.345	0.20638	N	0.999878	B	0.12013	0.005	B	0.10450	0.005	T	0.05666	-1.0871	10	0.45353	T	0.12	-6.1228	4.929	0.13907	0.1501:0.6161:0.1461:0.0877	.	1438	Q5TGY3	AHDC1_HUMAN	P	1438	ENSP00000247087:A1438P;ENSP00000363123:A1438P	ENSP00000247087:A1438P	A	-	1	0	AHDC1	27746902	0.076000	0.21285	0.947000	0.38551	0.951000	0.60555	0.321000	0.19558	2.500000	0.84329	0.655000	0.94253	GCT		0.682	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			3	19	0	0	0	1	0	3	19					G	27874315	C	G	27874315	3	3	443	1	0	0	0	0	1	0	0	0	412	797	28	5	503	5	AHDC1	1	27874315	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08		27874315	221376306	1	30441											
SCMH1	22955	broad.mit.edu	37	chr1	41512096	41512096	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggtaggtacctgtcgTggctgtggctgtactctatg	5	14	13	9	1	1	0	0	0	1	0	2	0	1	0	2	4	3	5	2	4	5	5			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:41512096T>C	ENST00000326197.7	-	11	1750	c.1451A>G	c.(1450-1452)cAc>cGc	p.H484R	SCMH1_ENST00000372597.1_Missense_Mutation_p.H437R|SCMH1_ENST00000361705.3_Missense_Mutation_p.H437R|SCMH1_ENST00000361191.5_Missense_Mutation_p.H423R|SCMH1_ENST00000456518.2_Missense_Mutation_p.H326R|SCMH1_ENST00000397171.2_Missense_Mutation_p.H423R|SCMH1_ENST00000337495.5_Missense_Mutation_p.H494R|SCMH1_ENST00000372596.1_Missense_Mutation_p.H423R|SCMH1_ENST00000372595.1_Missense_Mutation_p.H423R|SCMH1_ENST00000397174.2_Missense_Mutation_p.H464R|SCMH1_ENST00000402904.2_Missense_Mutation_p.H484R					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				GTACCTGTCGTGGCTGTGGCT	0.582																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(1450-1452)cAc>cGc		sex comb on midleg homolog 1 (Drosophila)							99	81	87					1																	41512096		2203	4300	6503	SO:0001583	missense	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41512096T>C	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"Sterile alpha motif (SAM) domain containing"	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1451A>G	1.37:g.41512096T>C	ENSP00000318094:p.His484Arg					SCMH1_ENST00000456518.2_Missense_Mutation_p.H326R|SCMH1_ENST00000397171.2_Missense_Mutation_p.H423R|SCMH1_ENST00000397174.2_Missense_Mutation_p.H464R|SCMH1_ENST00000372595.1_Missense_Mutation_p.H423R|SCMH1_ENST00000372596.1_Missense_Mutation_p.H423R|SCMH1_ENST00000372597.1_Missense_Mutation_p.H437R|SCMH1_ENST00000361191.5_Missense_Mutation_p.H423R|SCMH1_ENST00000337495.5_Missense_Mutation_p.H494R|SCMH1_ENST00000326197.7_Missense_Mutation_p.H484R|SCMH1_ENST00000361705.3_Missense_Mutation_p.H437R	p.H484R	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN			12	1819	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	484						Missense_Mutation	SNP	ENST00000326197.7	37	c.1451A>G	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	T	7.222	0.597513	0.13875	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.21191	2.36;2.02;2.38;2.35;2.35;2.35;2.36;2.35;2.35;2.39;2.38	5.03	5.03	0.67393	.	0.312152	0.29737	N	0.011329	T	0.25419	0.0618	N	0.14661	0.345	0.39672	D	0.97076	B;D;B;B	0.53462	0.244;0.96;0.002;0.002	B;D;B;B	0.66979	0.074;0.948;0.004;0.002	T	0.07947	-1.0746	10	0.13470	T	0.59	.	14.0391	0.64663	0.0:0.0:0.0:1.0	.	326;494;437;484	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	R	437;326;484;464;423;423;437;423;494;423;484	ENSP00000354996:H437R;ENSP00000403974:H326R;ENSP00000386079:H484R;ENSP00000380359:H464R;ENSP00000380356:H423R;ENSP00000354656:H423R;ENSP00000361678:H437R;ENSP00000361677:H423R;ENSP00000337352:H494R;ENSP00000361676:H423R;ENSP00000318094:H484R	ENSP00000318094:H484R	H	-	2	0	SCMH1	41284683	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.061000	0.57485	2.246000	0.74042	0.533000	0.62120	CAC		0.582	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			15	22	0	0	0	1	0	15	22					C	41512096	T	C	41512096	3	2	443	1	0	0	0	0	1	0	0	0	13908	1696	59	4	551	4	SCMH1	1	41512096	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	13637781	41512096	207738525	2	30442											
VTCN1	79679	broad.mit.edu	37	chr1	117695923	117695923	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggctgggggaaccatcGgggagcctcacaccgcaagg	8	5	17	11	2	1	0	1	0	0	0	2	2	1	2	3	6	2	2	3	6	2	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:117695923G>A	ENST00000369458.3	-	4	592	c.514C>T	c.(514-516)Cga>Tga	p.R172*	VTCN1_ENST00000328189.3_Nonsense_Mutation_p.R56*|VTCN1_ENST00000539893.1_Nonsense_Mutation_p.R77*|VTCN1_ENST00000359008.4_Nonsense_Mutation_p.R175*|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	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)		GGGAACCATCGGGGAGCCTCA	0.552																																						ENST00000369458.3																			0				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12						c.(514-516)Cga>Tga		V-set domain containing T cell activation inhibitor 1							70	71	71					1																	117695923		2203	4300	6503	SO:0001587	stop_gained	79679					integral to membrane|plasma membrane		g.chr1:117695923G>A	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28873	protein-coding gene	gene with protein product	"B7 family member, H4", "B7 superfamily member 1"	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.514C>T	1.37:g.117695923G>A	ENSP00000358470:p.Arg172*					VTCN1_ENST00000328189.3_Nonsense_Mutation_p.R56*|VTCN1_ENST00000539893.1_Nonsense_Mutation_p.R77*|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000359008.4_Nonsense_Mutation_p.R175*	p.R172*	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	4	592	-	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)	172			Ig-like V-type 2.			Nonsense_Mutation	SNP	ENST00000369458.3	37	c.514C>T	CCDS894.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254886	0.80135	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000328189;ENST00000539893	.	.	.	5.34	2.32	0.28847	.	0.000000	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7056	7.3757	0.26827	0.0784:0.0:0.5934:0.3283	.	.	.	.	X	172;175;56;77	.	ENSP00000328168:R56X	R	-	1	2	VTCN1	117497446	0.260000	0.24053	0.967000	0.41034	0.998000	0.95712	0.573000	0.23699	0.420000	0.25954	0.650000	0.86243	CGA		0.552	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626		17	34	0	0	0	1	0	17	34					A	117695923	G	A	117695923	4	1	443	1	0	0	0	0	0	1	0	0	17231	1124	39	2	342	2	VTCN1	1	117695923	Nonsense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	76183827	117695923	131554698	3	30443											
DENND4B	9909	broad.mit.edu	37	chr1	153902804	153902804	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaggtgctccaaaacattttCggcagtcaatggccttggga	10	10	12	9	1	1	0	1	0	0	0	3	2	2	1	2	4	2	2	2	4	3	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:153902804C>G	ENST00000361217.4	-	28	4878	c.4460G>C	c.(4459-4461)cGa>cCa	p.R1487P	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1487					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAAACATTTTCGGCAGTCAAT	0.547																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(4459-4461)cGa>cCa		DENN/MADD domain containing 4B							54	57	56					1																	153902804		1962	4140	6102	SO:0001583	missense	9909							g.chr1:153902804C>G	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.4460G>C	1.37:g.153902804C>G	ENSP00000354597:p.Arg1487Pro						p.R1487P	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		28	4878	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1487					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.4460G>C	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564521	0.65651	.	.	ENSG00000198837	ENST00000361217	T	0.20881	2.04	5.14	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	M	0.72894	2.215	0.54753	D	0.99998	D	0.76494	0.999	D	0.67725	0.953	T	0.20538	-1.0272	10	0.87932	D	0	-7.2579	12.8685	0.57953	0.0:0.9201:0.0:0.0799	.	1487	O75064	DEN4B_HUMAN	P	1487	ENSP00000354597:R1487P	ENSP00000354597:R1487P	R	-	2	0	DENND4B	152169428	1.000000	0.71417	0.984000	0.44739	0.869000	0.49853	6.765000	0.74965	1.392000	0.46585	0.561000	0.74099	CGA		0.547	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		18	19	0	0	0	1	0	18	19					G	153902804	C	G	153902804	3	3	443	1	0	0	0	0	1	0	0	0	4434	884	31	5	34	5	DENND4B	1	153902804	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	36206881	153902804	95347817	4	30444											
C1orf156	92342	broad.mit.edu	37	chr1	169762232	169762232	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcccttgaatgcagttataCctagtaaacctgatccacaa	13	11	5	12	0	0	2	0	2	0	0	2	2	2	2	4	0	3	3	4	0	7	5			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:169762232C>G	ENST00000310392.4	-	2	958	c.605G>C	c.(604-606)gGt>gCt	p.G202A	METTL18_ENST00000303469.2_Missense_Mutation_p.G202A|C1orf112_ENST00000413811.2_5'Flank|C1orf112_ENST00000359326.4_5'Flank|C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000456684.1_5'Flank|C1orf112_ENST00000498289.1_Intron	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	202						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			kidney(1)|large_intestine(3)|lung(4)	8						TGCAGTTATACCTAGTAAACC	0.393																																						ENST00000310392.4																			0				kidney(1)|large_intestine(3)|lung(4)	8						c.(604-606)gGt>gCt		methyltransferase like 18							125	127	126					1																	169762232		2203	4299	6502	SO:0001583	missense	92342					cytoplasm	protein methyltransferase activity	g.chr1:169762232C>G	AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"histidine protein methyltransferase 1"	615255	"chromosome 1 open reading frame 156"	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.605G>C	1.37:g.169762232C>G	ENSP00000307975:p.Gly202Ala					METTL18_ENST00000303469.2_Missense_Mutation_p.G202A|C1orf112_ENST00000498289.1_Intron	p.G202A	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN			2	958	-			202					B2R9T5	Missense_Mutation	SNP	ENST00000310392.4	37	c.605G>C	CCDS1284.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075794	0.76415	.	.	ENSG00000171806	ENST00000310392;ENST00000303469	T;T	0.70986	-0.53;-0.53	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.71247	0.3317	N	0.21097	0.63	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.72350	-0.4320	10	0.46703	T	0.11	-0.4269	18.9761	0.92736	0.0:1.0:0.0:0.0	.	202	O95568	MET18_HUMAN	A	202	ENSP00000307975:G202A;ENSP00000307077:G202A	ENSP00000307077:G202A	G	-	2	0	METTL18	168028856	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.400000	0.79949	2.824000	0.97209	0.655000	0.94253	GGT		0.393	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087109.1	NM_033418		47	59	0	0	0	1	0	47	59					G	169762232	C	G	169762232	3	3	443	1	0	0	0	0	1	0	0	0	2006	507	18	5	517	5	C1orf156	1	169762232	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	15859428	169762232	79488389	5	30445											
FMO2	2327	broad.mit.edu	37	chr1	171173103	171173103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacccggtttcgttctatgCtccgcaatgtactgccacga	8	11	8	14	4	1	0	0	0	1	0	3	1	2	0	3	1	3	5	3	1	3	4			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:171173103C>T	ENST00000209929.7	+	6	885	c.727C>T	c.(727-729)Ctc>Ttc	p.L243F	FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.L243F			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	243					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCGTTCTATGCTCCGCAATGT	0.473																																						ENST00000441535.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22						c.(727-729)Ctc>Ttc		flavin containing monooxygenase 2 (non-functional)							130	104	113					1																	171173103		2203	4300	6503	SO:0001583	missense	2327				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	g.chr1:171173103C>T	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.727C>T	1.37:g.171173103C>T	ENSP00000209929:p.Leu243Phe					RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445909.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.L243F|RP1-127D3.4_ENST00000422841.1_RNA	p.L243F	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN			6	844	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		243					Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.727C>T	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125112	0.37533	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.61510	0.1;0.1	6.13	6.13	0.99165	.	0.128636	0.51477	D	0.000090	T	0.46908	0.1417	M	0.75447	2.3	0.39793	D	0.972462	B	0.27951	0.195	B	0.34873	0.191	T	0.54186	-0.8331	10	0.46703	T	0.11	-27.8266	8.4052	0.32610	0.1553:0.7687:0.0:0.0761	.	243	Q99518	FMO2_HUMAN	F	243	ENSP00000209929:L243F;ENSP00000405905:L243F	ENSP00000209929:L243F	L	+	1	0	FMO2	169439727	0.438000	0.25602	0.998000	0.56505	0.031000	0.12232	0.397000	0.20883	2.937000	0.99478	0.650000	0.86243	CTC		0.473	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		30	31	0	0	0	1	0	30	31					T	171173103	C	T	171173103	3	4	443	1	0	0	0	0	1	0	0	0	5955	797	28	3	745	3	FMO2	1	171173103	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	1410871	171173103	78077518	6	30446											
SLC9A11	284525	broad.mit.edu	37	chr1	173556924	173556924	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttataacgacatatccaaTtatgatgcttgctgtagaaa	14	15	6	6	1	0	2	0	1	0	1	1	3	1	2	1	0	3	3	1	0	7	7			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:173556924T>A	ENST00000367714.3	-	5	825	c.403A>T	c.(403-405)Att>Ttt	p.I135F	SLC9C2_ENST00000536496.1_Missense_Mutation_p.I33F|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	135					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										ACATATCCAATTATGATGCTT	0.348																																						ENST00000367714.3																			0											c.(403-405)Att>Ttt		solute carrier family 9, member C2 (putative)							96	97	97					1																	173556924		2203	4299	6502	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173556924T>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.403A>T	1.37:g.173556924T>A	ENSP00000356687:p.Ile135Phe					SLC9C2_ENST00000536496.1_Missense_Mutation_p.I33F|RP3-436N22.3_ENST00000431459.1_RNA	p.I135F	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			5	825	-			135					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.403A>T	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.065895	0.36470	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.06849	3.25;3.25	5.59	-3.23	0.05109	Cation/H+ exchanger (1);	1.215380	0.05835	N	0.618268	T	0.03220	0.0094	L	0.44542	1.39	0.09310	N	1	P	0.34562	0.457	B	0.36989	0.238	T	0.34675	-0.9819	10	0.72032	D	0.01	-2.8421	11.1994	0.48733	0.0:0.0679:0.5431:0.3889	.	135	Q5TAH2	S9A11_HUMAN	F	135;33	ENSP00000356687:I135F;ENSP00000445437:I33F	ENSP00000356687:I135F	I	-	1	0	SLC9A11	171823547	0.339000	0.24784	0.000000	0.03702	0.003000	0.03518	0.338000	0.19858	-1.388000	0.02092	-1.795000	0.00624	ATT		0.348	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		8	115	0	0	0	1	0	8	115					A	173556924	T	A	173556924	3	1	443	1	0	0	0	0	1	0	0	0	14711	1493	52	5	3067	5	SLC9A11	1	173556924	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	2383821	173556924	75693697	7	30447											
PAPPA2	60676	broad.mit.edu	37	chr1	176564355	176564355	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgtgatgatgagggcctaAaccccattgtgagtgaggag	10	10	14	7	0	1	5	0	5	1	0	1	6	1	6	3	2	1	0	3	2	2	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:176564355A>T	ENST00000367662.3	+	3	2779	c.1615A>T	c.(1615-1617)Aac>Tac	p.N539Y	PAPPA2_ENST00000367661.3_Missense_Mutation_p.N539Y	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	539	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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						TGAGGGCCTAAACCCCATTGT	0.542																																						ENST00000367662.3																			0				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						c.(1615-1617)Aac>Tac		pappalysin 2							57	60	59					1																	176564355		2127	4235	6362	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564355A>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1615A>T	1.37:g.176564355A>T	ENSP00000356634:p.Asn539Tyr					PAPPA2_ENST00000367661.3_Missense_Mutation_p.N539Y	p.N539Y	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			3	2779	+			539			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1615A>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	2.967	-0.213352	0.06140	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.48201	0.82;0.82	5.1	0.228	0.15364	.	0.697746	0.14372	N	0.323760	T	0.39572	0.1083	M	0.65975	2.015	0.09310	N	1	B;P	0.35923	0.217;0.528	B;B	0.34385	0.181;0.074	T	0.34976	-0.9807	10	0.72032	D	0.01	-5.8341	4.2006	0.10464	0.3805:0.4354:0.0921:0.0919	.	539;539	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	Y	539	ENSP00000356634:N539Y;ENSP00000356633:N539Y	ENSP00000356633:N539Y	N	+	1	0	PAPPA2	174830978	0.002000	0.14202	0.013000	0.15412	0.000000	0.00434	0.448000	0.21726	0.031000	0.15407	-1.158000	0.01797	AAC		0.542	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			14	19	0	0	0	1	0	14	19					T	176564355	A	T	176564355	3	4	443	1	0	0	0	0	1	0	0	0	11433	14	1	5	1621	5	PAPPA2	1	176564355	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	3007431	176564355	72686266	8	30448											
OBSCN	84033	broad.mit.edu	37	chr1	228412361	228412361	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctggttgtgcagcaggCaggccaggcggatgccgggg	6	5	20	10	2	0	0	0	0	0	0	0	1	0	1	2	8	3	5	2	8	0	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:228412361C>G	ENST00000422127.1	+	9	2899	c.2855C>G	c.(2854-2856)gCa>gGa	p.A952G	OBSCN_ENST00000570156.2_Missense_Mutation_p.A1044G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A952G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	952	Ig-like 9.			A -> V (in Ref. 1; CAC85746). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			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)				GTGCAGCAGGCAGGCCAGGCG	0.602																																						ENST00000570156.2																			0				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						c.(3130-3132)gCa>gGa		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							41	42	42					1																	228412361		2060	4188	6248	SO:0001583	missense	84033				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	g.chr1:228412361C>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.2855C>G	1.37:g.228412361C>G	ENSP00000409493:p.Ala952Gly					OBSCN_ENST00000284548.11_Missense_Mutation_p.A952G|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A952G	p.A1044G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			10	3205	+		Prostate(94;0.0405)	1044			Ig-like 10.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3131C>G	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	9.297	1.052023	0.19827	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.70986	-0.53;-0.53	4.51	1.42	0.22433	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.098651	0.42821	D	0.000647	T	0.78679	0.4321	M	0.82923	2.615	0.80722	D	1	P;D	0.57257	0.929;0.979	P;P	0.56865	0.808;0.771	T	0.77648	-0.2509	10	0.72032	D	0.01	.	8.3454	0.32270	0.0:0.578:0.0:0.422	.	952;952	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	G	952	ENSP00000284548:A952G;ENSP00000409493:A952G	ENSP00000284548:A952G	A	+	2	0	OBSCN	226478984	0.099000	0.21834	0.455000	0.27031	0.126000	0.20510	0.395000	0.20850	0.197000	0.20387	-0.137000	0.14449	GCA		0.602	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		20	22	0	0	0	1	0	20	22					G	228412361	C	G	228412361	3	3	443	1	0	0	0	0	1	0	0	0	10812	710	25	5	2885	5	OBSCN	1	228412361	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	51848006	228412361	20838260	9	30449											
OBSCN	84033	broad.mit.edu	37	chr1	228462108	228462108	+	Missense_Mutation	SNP	C	C	A																															ggggagtacgtgtgtgagagCcgtgatgaccacaccagtgc																										TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:228462108C>A	ENST00000422127.1	+	19	5690	c.5646C>A	c.(5644-5646)agC>agA	p.S1882R	RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000570156.2_Missense_Mutation_p.S2257R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.S729R|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000284548.11_Missense_Mutation_p.S1882R|RP5-1139B12.2_ENST00000602517.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1882	Ig-like 18.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			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)				TGTGTGAGAGCCGTGATGACC	0.647																																						ENST00000570156.2																			0				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						c.(6769-6771)agC>agA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							39	46	43					1																	228462108		2181	4273	6454	SO:0001583	missense	84033				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	g.chr1:228462108C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5646C>A	1.37:g.228462108C>A	ENSP00000409493:p.Ser1882Arg					OBSCN_ENST00000359599.6_Missense_Mutation_p.S729R|OBSCN_ENST00000284548.11_Missense_Mutation_p.S1882R|OBSCN_ENST00000422127.1_Missense_Mutation_p.S1882R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	p.S2257R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			23	6845	+		Prostate(94;0.0405)	1240					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.6771C>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134845	0.56828	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.67171	-0.25;-0.25;-0.25	5.49	3.58	0.41010	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.283956	0.32608	N	0.005869	T	0.82051	0.4953	M	0.88570	2.965	0.80722	D	1	D;D	0.76494	0.988;0.999	P;D	0.71414	0.796;0.973	D	0.84697	0.0726	10	0.66056	D	0.02	.	11.1682	0.48556	0.0:0.7938:0.1317:0.0745	.	1882;1882	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	R	1882;1882;729	ENSP00000284548:S1882R;ENSP00000409493:S1882R;ENSP00000352613:S729R	ENSP00000284548:S1882R	S	+	3	2	OBSCN	226528731	0.061000	0.20836	1.000000	0.80357	0.060000	0.15804	-0.055000	0.11807	1.455000	0.47813	0.555000	0.69702	AGC		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		17	33	1	0	3.70931e-20	1	4.35078e-20	17	33					A	228462108	C	A	228462108	3	1	443	1	0	0	0	0	1	0	0	0	10812	738	26	5	5716	5	OBSCN	1	228462108	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	49747	228462108	20788513	10	30450	144	2									
OBSCN	84033	broad.mit.edu	37	chr1	228462109	228462109	+	Missense_Mutation	SNP	C	C	G																															gggagtacgtgtgtgagagcCgtgatgaccacaccagtgcg																										TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:228462109C>G	ENST00000422127.1	+	19	5691	c.5647C>G	c.(5647-5649)Cgt>Ggt	p.R1883G	RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000570156.2_Missense_Mutation_p.R2258G|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.R730G|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1883G|RP5-1139B12.2_ENST00000602517.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1883	Ig-like 18.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			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)				GTGTGAGAGCCGTGATGACCA	0.647																																						ENST00000570156.2																			0				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						c.(6772-6774)Cgt>Ggt		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							39	46	43					1																	228462109		2182	4273	6455	SO:0001583	missense	84033				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	g.chr1:228462109C>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5647C>G	1.37:g.228462109C>G	ENSP00000409493:p.Arg1883Gly					OBSCN_ENST00000359599.6_Missense_Mutation_p.R730G|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1883G|OBSCN_ENST00000422127.1_Missense_Mutation_p.R1883G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	p.R2258G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			23	6846	+		Prostate(94;0.0405)	1241					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.6772C>G	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247744	0.39697	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.67523	-0.27;-0.27;-0.27	5.49	5.49	0.81192	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.073018	0.50627	D	0.000118	T	0.65471	0.2694	N	0.17564	0.495	0.80722	D	1	B;D	0.71674	0.416;0.998	B;D	0.69479	0.192;0.964	T	0.60434	-0.7264	10	0.20519	T	0.43	.	12.0837	0.53686	0.2735:0.7265:0.0:0.0	.	1883;1883	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	G	1883;1883;730	ENSP00000284548:R1883G;ENSP00000409493:R1883G;ENSP00000352613:R730G	ENSP00000284548:R1883G	R	+	1	0	OBSCN	226528732	0.082000	0.21442	0.998000	0.56505	0.056000	0.15407	2.017000	0.40981	2.753000	0.94483	0.555000	0.69702	CGT		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		17	32	0	0	0	1	0	17	32					G	228462109	C	G	228462109	3	3	443	1	0	0	0	0	1	0	0	0	10812	652	23	5	5717	5	OBSCN	1	228462109	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	1	228462109	20788512	11	30451	144	2									
TAF5L	27097	broad.mit.edu	37	chr1	229738306	229738306	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagctgatagtctgttctcTtggcaggctgcacgtcaaga	9	11	11	10	1	3	2	1	1	2	1	4	2	3	2	0	2	2	5	0	2	2	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:229738306T>C	ENST00000366676.1	-	3	607	c.608A>G	c.(607-609)aAg>aGg	p.K203R	TAF5L_ENST00000366675.3_Missense_Mutation_p.K203R|TAF5L_ENST00000258281.2_Missense_Mutation_p.K203R			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	203					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GTCTGTTCTCTTGGCAGGCTG	0.527																																						ENST00000366675.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(607-609)aAg>aGg		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							130	128	129					1																	229738306		2203	4300	6503	SO:0001583	missense	27097				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	g.chr1:229738306T>C	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.608A>G	1.37:g.229738306T>C	ENSP00000355636:p.Lys203Arg					TAF5L_ENST00000366676.1_Missense_Mutation_p.K203R|TAF5L_ENST00000258281.2_Missense_Mutation_p.K203R	p.K203R	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN			4	696	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	203					Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	c.608A>G	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.556051	0.27827	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675	T;T;T	0.58652	0.32;0.32;0.91	5.79	5.79	0.91817	.	0.140005	0.64402	D	0.000005	T	0.42426	0.1202	N	0.17082	0.46	0.40020	D	0.97539	B;B	0.11235	0.004;0.003	B;B	0.11329	0.006;0.002	T	0.32640	-0.9899	9	.	.	.	-25.2854	16.1244	0.81382	0.0:0.0:0.0:1.0	.	203;203	O75529-2;O75529	.;TAF5L_HUMAN	R	203	ENSP00000355636:K203R;ENSP00000258281:K203R;ENSP00000355635:K203R	.	K	-	2	0	TAF5L	227804929	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.348000	0.59379	2.210000	0.71456	0.528000	0.53228	AAG		0.527	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		23	33	0	0	0	1	0	23	33					C	229738306	T	C	229738306	3	2	443	1	0	0	0	0	1	0	0	0	15526	1609	56	4	1175	4	TAF5L	1	229738306	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	1276197	229738306	19512315	12	30452											
ERLEC1	27248	broad.mit.edu	37	chr2	54028677	54028677	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaatctaagcatgaaatTctttcagtagctgaagttac	13	13	7	8	0	3	3	1	3	2	0	3	3	3	3	1	0	3	4	1	0	6	5			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:54028677T>G	ENST00000185150.4	+	7	800	c.669T>G	c.(667-669)atT>atG	p.I223M	ERLEC1_ENST00000405123.3_Missense_Mutation_p.I223M|ERLEC1_ENST00000378239.5_Missense_Mutation_p.I223M|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	223					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						AGCATGAAATTCTTTCAGTAG	0.383																																						ENST00000185150.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						c.(667-669)atT>atG		endoplasmic reticulum lectin 1							91	76	81					2																	54028677		2203	4300	6503	SO:0001583	missense	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54028677T>G	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"erlectin 1"	611229	"chromosome 2 open reading frame 30"	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.669T>G	2.37:g.54028677T>G	ENSP00000185150:p.Ile223Met					ERLEC1_ENST00000378239.5_Missense_Mutation_p.I223M|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000405123.3_Missense_Mutation_p.I223M|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	p.I223M	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN			7	800	+			223					B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	ENST00000185150.4	37	c.669T>G	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518854	0.64634	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T;T	0.11821	2.74;2.74;2.74	5.95	1.14	0.20703	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	.	.	.	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.993;0.999	T	0.02431	-1.1160	9	0.59425	D	0.04	-16.1076	10.0851	0.42412	0.0:0.4964:0.0:0.5036	.	223;223;223	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	M	223	ENSP00000385629:I223M;ENSP00000185150:I223M;ENSP00000367485:I223M	ENSP00000185150:I223M	I	+	3	3	ERLEC1	53882181	0.984000	0.35163	1.000000	0.80357	0.998000	0.95712	0.231000	0.17872	0.181000	0.19994	0.528000	0.53228	ATT		0.383	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		25	30	0	0	0	1	0	25	30					G	54028677	T	G	54028677	3	3	443	1	0	0	0	0	1	0	0	0	5231	1771	62	5	695	5	ERLEC1	2	54028677	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08		54028677	189170696	13	30453											
AFF3	3899	broad.mit.edu	37	chr2	100623893	100623893	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgcctaaagtgttctggatCcggttggagagttcatcccc	7	13	11	10	1	2	1	1	0	1	1	4	3	4	2	4	3	1	3	4	3	2	5			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:100623893C>G	ENST00000409236.2	-	4	316	c.204G>C	c.(202-204)cgG>cgC	p.R68R	AFF3_ENST00000317233.4_Silent_p.R68R|AFF3_ENST00000356421.2_Silent_p.R93R|AFF3_ENST00000409579.1_Silent_p.R93R			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	68					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.R93R(1)		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						TGTTCTGGATCCGGTTGGAGA	0.433																																						ENST00000317233.4																			1	Substitution - coding silent(1)	p.R93R(1)	lung(1)	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						c.(202-204)cgG>cgC		AF4/FMR2 family, member 3							90	94	93					2																	100623893		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623893C>G	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.204G>C	2.37:g.100623893C>G						AFF3_ENST00000409236.1_Silent_p.R68R|AFF3_ENST00000409579.1_Silent_p.R93R|AFF3_ENST00000356421.2_Silent_p.R93R	p.R68R	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			5	439	-			68					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.204G>C	CCDS42723.1																																																																																				0.433	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		45	79	0	0	0	1	0	45	79					G	100623893	C	G	100623893	2	3	443	1	0	0	0	0	0	0	0	1	358	842	30	5		5	AFF3	2	100623893	Silent	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	46595216	100623893	142575480	14	30454											
ACTR3	10096	broad.mit.edu	37	chr2	114709088	114709088	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttacacaacctatctcAgaagttgtagatgaagtaat	15	12	7	7	0	1	3	1	1	1	2	2	4	1	3	1	0	2	3	1	0	7	6			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:114709088A>T	ENST00000263238.2	+	9	1211	c.891A>T	c.(889-891)tcA>tcT	p.S297S	ACTR3_ENST00000536059.1_Silent_p.S235S|ACTR3_ENST00000535589.2_Silent_p.S246S	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	297					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						AACCTATCTCAGAAGTTGTAG	0.303																																						ENST00000263238.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						c.(889-891)tcA>tcT		ARP3 actin-related protein 3 homolog (yeast)							82	79	80					2																	114709088		2202	4291	6493	SO:0001819	synonymous_variant	10096				cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding	g.chr2:114709088A>T	AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"ARP3 (actin-related protein 3, yeast) homolog"			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.891A>T	2.37:g.114709088A>T						ACTR3_ENST00000535589.2_Silent_p.S246S|ACTR3_ENST00000536059.1_Silent_p.S235S	p.S297S	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN			9	1211	+			297					P32391|Q53QM2	Silent	SNP	ENST00000263238.2	37	c.891A>T	CCDS33277.1																																																																																				0.303	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331366.2	NM_005721		17	20	0	0	0	1	0	17	20					T	114709088	A	T	114709088	2	4	443	1	0	0	0	0	0	0	0	1	212	175	7	5		5	ACTR3	2	114709088	Silent	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	14085195	114709088	128490285	15	30455											
INSIG2	51141	broad.mit.edu	37	chr2	118864346	118864346	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataacaacatacagttgtctCtcacactggctgcactatcc	12	11	5	13	0	2	0	1	0	1	0	4	0	3	0	1	1	4	3	1	1	4	4			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:118864346C>G	ENST00000245787.4	+	4	609	c.403C>G	c.(403-405)Ctc>Gtc	p.L135V	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	135					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ACAGTTGTCTCTCACACTGGC	0.388																																						ENST00000245787.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.(403-405)Ctc>Gtc		insulin induced gene 2							215	196	203					2																	118864346		2203	4300	6503	SO:0001583	missense	51141				ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		g.chr2:118864346C>G	AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.403C>G	2.37:g.118864346C>G	ENSP00000245787:p.Leu135Val					INSIG2_ENST00000485520.1_3'UTR	p.L135V	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN			4	609	+			135					A8K5W8|Q8TBI8	Missense_Mutation	SNP	ENST00000245787.4	37	c.403C>G	CCDS2122.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905474	0.72868	.	.	ENSG00000125629	ENST00000245787	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.77370	0.4120	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.987	T	0.71159	-0.4674	9	0.22706	T	0.39	.	19.4672	0.94948	0.0:1.0:0.0:0.0	.	27;135	B4DQ23;Q9Y5U4	.;INSI2_HUMAN	V	135	.	ENSP00000245787:L135V	L	+	1	0	INSIG2	118580816	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.273000	0.78527	2.833000	0.97629	0.585000	0.79938	CTC		0.388	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129624.1	NM_016133		17	34	0	0	0	1	0	17	34					G	118864346	C	G	118864346	3	3	443	1	0	0	0	0	1	0	0	0	7766	913	32	5	413	5	INSIG2	2	118864346	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	4155258	118864346	124335027	16	30456											
TTN	7273	broad.mit.edu	37	chr2	179426672	179426672	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaactaacctcatcaatacGtataggacctggaggtcctg	13	9	8	11	1	2	0	2	0	0	0	3	2	3	2	3	3	3	1	3	3	6	4	rs539595292		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:179426672G>C	ENST00000591111.1	-	276	79488	c.79264C>G	c.(79264-79266)Cgt>Ggt	p.R26422G	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R19123G|TTN_ENST00000460472.2_Missense_Mutation_p.R18998G|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R19190G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R28063G|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R25495G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26422	Fibronectin type-III 92. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			TCATCAATACGTATAGGACCT	0.383																																						ENST00000589042.1																			0				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						c.(84187-84189)Cgt>Ggt		titin							51	51	51					2																	179426672		1886	4097	5983	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179426672G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79264C>G	2.37:g.179426672G>C	ENSP00000465570:p.Arg26422Gly					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R18998G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R25495G|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R19190G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R26422G|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R19123G|TTN-AS1_ENST00000419746.1_RNA	p.R28063G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	84411	-			26422			Fibronectin type-III 104.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.84187C>G		.	.	.	.	.	.	.	.	.	.	G	3.215	-0.160879	0.06502	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	6.16	4.34	0.51931	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61937	0.2387	M	0.73430	2.235	0.09310	N	1	B;B;B;B	0.18741	0.03;0.03;0.03;0.03	B;B;B;B	0.22880	0.022;0.022;0.042;0.042	T	0.57820	-0.7745	9	0.87932	D	0	.	15.8212	0.78648	0.0:0.0:0.6486:0.3514	.	18998;19123;19190;26422	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	25495;18998;19190;19123;18996	ENSP00000343764:R25495G;ENSP00000434586:R18998G;ENSP00000340554:R19190G;ENSP00000352154:R19123G	ENSP00000340554:R19190G	R	-	1	0	TTN	179134918	0.064000	0.20934	0.016000	0.15963	0.418000	0.31294	2.357000	0.44125	0.896000	0.36366	0.650000	0.86243	CGT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	32	0	0	0	1	0	8	32					C	179426672	G	C	179426672	3	2	443	1	0	0	0	0	1	0	0	0	16732	1145	40	5	23940	5	TTN	2	179426672	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	60562326	179426672	63772701	17	30457											
ZDBF2	57683	broad.mit.edu	37	chr2	207170014	207170014	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcattttcgtatcagaaacaTaaagaatcaaataggaaatc	19	11	5	6	1	3	2	3	0	0	2	5	3	3	3	0	1	1	1	0	1	8	5			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:207170014T>A	ENST00000374423.3	+	5	1148	c.762T>A	c.(760-762)caT>caA	p.H254Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	254							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATCAGAAACATAAAGAATCAA	0.358																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(760-762)caT>caA		zinc finger, DBF-type containing 2							30	29	30					2																	207170014		1830	4087	5917	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207170014T>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.762T>A	2.37:g.207170014T>A	ENSP00000363545:p.His254Gln						p.H254Q	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	1148	+			254					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.762T>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	T	4.486	0.090180	0.08632	.	.	ENSG00000204186	ENST00000374423	T	0.16597	2.33	4.71	2.31	0.28768	.	0.465919	0.16082	N	0.230457	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.14578	0.011	T	0.29852	-0.9998	10	0.34782	T	0.22	.	3.628	0.08120	0.168:0.1659:0.0:0.6661	.	254	Q9HCK1	ZDBF2_HUMAN	Q	254	ENSP00000363545:H254Q	ENSP00000363545:H254Q	H	+	3	2	ZDBF2	206878259	0.023000	0.18921	0.412000	0.26496	0.059000	0.15707	0.255000	0.18333	0.633000	0.30452	-0.341000	0.08007	CAT		0.358	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		6	18	0	0	0	1	0	6	18					A	207170014	T	A	207170014	3	1	443	1	0	0	0	0	1	0	0	0	17596	1403	49	5	772	5	ZDBF2	2	207170014	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	27743342	207170014	36029359	18	30458											
PTH2R	5746	broad.mit.edu	37	chr2	209345821	209345821	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttattctgtttctgaatacGgttagagttctagctaccaa	10	17	7	7	1	3	2	0	1	3	1	3	2	3	2	1	1	3	4	1	1	7	9	rs182530906	byFrequency	TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:209345821G>A	ENST00000272847.2	+	10	1221	c.1008G>A	c.(1006-1008)acG>acA	p.T336T	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	336					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TTCTGAATACGGTTAGAGTTC	0.343													G|||	8	0.00159744	0.0015	0	5008	,	,		16683	0		0	False		,,,				2504	0.0061					ENST00000272847.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1006-1008)acG>acA		parathyroid hormone 2 receptor		G		0,4406		0,0,2203	96	95	95		1008	-11.4	0.3	2		95	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	PTH2R	NM_005048.2		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		336/551	209345821	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209345821G>A	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1008G>A	2.37:g.209345821G>A						PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	p.T336T	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	10	1221	+			336					Q8N429	Silent	SNP	ENST00000272847.2	37	c.1008G>A	CCDS2383.1																																																																																				0.343	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		42	23	0	0	0	1	0	42	23					A	209345821	G	A	209345821	2	1	443	1	0	0	0	0	0	0	0	1	12760	1103	39	2		2	PTH2R	2	209345821	Silent	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	2175807	209345821	33853552	19	30459											
C2orf67	151050	broad.mit.edu	37	chr2	210894539	210894539	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacctactcgtgatgaattCtggattcttgataaaacgtt	13	14	7	7	2	2	3	0	3	2	0	3	4	2	4	1	1	3	1	1	1	5	6			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:210894539C>G	ENST00000281772.9	-	10	2522	c.2259G>C	c.(2257-2259)caG>caC	p.Q753H	KANSL1L_ENST00000418791.1_Missense_Mutation_p.Q711H|RP11-260M2.1_ENST00000608095.1_RNA|AC007038.7_ENST00000452057.1_RNA	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	753						histone acetyltransferase complex (GO:0000123)											GTGATGAATTCTGGATTCTTG	0.289																																						ENST00000281772.9																			0											c.(2257-2259)caG>caC		KAT8 regulatory NSL complex subunit 1-like							133	133	133					2																	210894539		2203	4300	6503	SO:0001583	missense	151050							g.chr2:210894539C>G	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2259G>C	2.37:g.210894539C>G	ENSP00000281772:p.Gln753His					KANSL1L_ENST00000418791.1_Missense_Mutation_p.Q711H	p.Q753H	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			10	2522	-			753					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.2259G>C	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375933	0.61735	.	.	ENSG00000144445	ENST00000281772;ENST00000418791	.	.	.	5.5	4.61	0.57282	.	0.352303	0.21791	N	0.069069	T	0.55924	0.1951	L	0.46157	1.445	0.80722	D	1	D;D	0.59767	0.986;0.986	P;P	0.57152	0.814;0.814	T	0.56044	-0.8044	9	0.52906	T	0.07	.	7.4174	0.27053	0.0:0.687:0.2238:0.0892	.	711;753	A0AUZ9-2;A0AUZ9	.;CB067_HUMAN	H	753;711	.	ENSP00000281772:Q753H	Q	-	3	2	C2orf67	210602784	0.881000	0.30235	1.000000	0.80357	0.975000	0.68041	-0.189000	0.09629	2.586000	0.87340	0.655000	0.94253	CAG		0.289	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		31	84	0	0	0	1	0	31	84					G	210894539	C	G	210894539	3	3	443	1	0	0	0	0	1	0	0	0	2186	912	32	5	728	5	C2orf67	2	210894539	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	1548718	210894539	32304834	20	30460											
STK36	27148	broad.mit.edu	37	chr2	219540981	219540981	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accctgtgcgctggccctcaAccatcagtccctgctttaag	7	10	8	16	1	2	0	2	0	0	0	3	0	3	0	4	1	3	2	4	1	2	2	rs371599500		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:219540981A>G	ENST00000295709.3	+	6	943	c.664A>G	c.(664-666)Acc>Gcc	p.T222A	STK36_ENST00000392106.2_Missense_Mutation_p.T222A|STK36_ENST00000392105.3_Missense_Mutation_p.T222A|STK36_ENST00000440309.1_Missense_Mutation_p.T222A	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTGGCCCTCAACCATCAGTCC	0.448													A|||	1	0.000199681	0	0	5008	,	,		20183	0.001		0	False		,,,				2504	0					ENST00000295709.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52						c.(664-666)Acc>Gcc		serine/threonine kinase 36							70	65	67					2																	219540981		2203	4300	6503	SO:0001583	missense	27148				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	g.chr2:219540981A>G	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.664A>G	2.37:g.219540981A>G	ENSP00000295709:p.Thr222Ala					STK36_ENST00000392106.2_Missense_Mutation_p.T222A|STK36_ENST00000440309.1_Missense_Mutation_p.T222A|STK36_ENST00000392105.3_Missense_Mutation_p.T222A	p.T222A	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	6	943	+		Renal(207;0.0915)	222			Protein kinase.			Missense_Mutation	SNP	ENST00000295709.3	37	c.664A>G	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	A	7.608	0.674162	0.14841	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309;ENST00000424080	T;T;T;T;T	0.67523	-0.27;-0.27;-0.1;-0.27;-0.1	5.49	4.32	0.51571	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46758	D	0.000267	T	0.47078	0.1426	N	0.25426	0.745	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.15870	0.008;0.014	T	0.24693	-1.0153	10	0.26408	T	0.33	-18.9502	4.2649	0.10759	0.6941:0.0:0.1475:0.1584	.	222;222	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	A	222	ENSP00000295709:T222A;ENSP00000375955:T222A;ENSP00000375954:T222A;ENSP00000394095:T222A;ENSP00000403527:T222A	ENSP00000295709:T222A	T	+	1	0	STK36	219249225	0.002000	0.14202	0.940000	0.37924	0.986000	0.74619	1.666000	0.37460	1.065000	0.40693	0.533000	0.62120	ACC		0.448	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			20	35	0	0	0	1	0	20	35					G	219540981	A	G	219540981	3	3	443	1	0	0	0	0	1	0	0	0	15301	43	2	4	682	4	STK36	2	219540981	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	8646442	219540981	23658392	21	30461											
COL6A3	1293	broad.mit.edu	37	chr2	238266526	238266526	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcttgtcctgggttaccCtgaaagcaacatgggaaagg	10	10	12	9	0	1	1	0	1	1	0	2	2	2	2	2	3	3	2	2	3	4	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:238266526C>A	ENST00000295550.4	-	22	6924		c.e22-1		COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(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)		CTGGGTTACCCTGAAAGCAAC	0.527																																						ENST00000295550.4																			1	Unknown(1)	p.?(1)	lung(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						c.e22-1		collagen, type VI, alpha 3							195	175	182					2																	238266526		2203	4300	6503	SO:0001630	splice_region_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238266526C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6472-1G>T	2.37:g.238266526C>A						COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site		NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		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)	22	6924	-		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)						A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Splice_Site	SNP	ENST00000295550.4	37		CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777456	0.49786	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3096	0.94182	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL6A3	237931265	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	6.981000	0.76166	2.571000	0.86741	0.655000	0.94253	.		0.527	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	Intron	92	10	1	0	1.74666e-38	1	2.16253e-38	92	10					A	238266526	C	A	238266526	5	1	443	1	0	0	0	0	0	0	1	0	3701	695	24	5	3154	5	COL6A3	2	238266526	Splice_Site	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	18725545	238266526	4932847	22	30462											
VHL	7428	broad.mit.edu	37	chr3	10188250	10188250	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacgatgggcttctggttaaCcaaactgaattatttgtgcc	10	13	9	9	1	1	1	0	1	1	0	1	2	1	1	2	2	3	2	2	2	4	4			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:10188250C>G	ENST00000256474.2	+	2	1233	c.393C>G	c.(391-393)aaC>aaG	p.N131K	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	131	Involved in binding to CCT complex.		N -> K (in VHLD; type I). {ECO:0000269|PubMed:9829912}.|N -> T (in VHLD; type I). {ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.N131fs*27(2)|p.N131K(2)|p.Q132fs*27(1)|p.N131fs*10(1)|p.H125fs*27(1)|p.N131*(1)|p.N131fs*7(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TTCTGGTTAACCAAACTGAAT	0.453		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"D, Mis, N, F, S"	von Hippel-Lindau syndrome gene			"E, M, O"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"		9	Deletion - Frameshift(6)|Substitution - Missense(2)|Complex - frameshift(1)	p.N131fs*27(2)|p.N131K(2)|p.Q132fs*27(1)|p.N131fs*10(1)|p.H125fs*27(1)|p.N131*(1)|p.N131fs*7(1)	kidney(9)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CM042502|CX073799	VHL	M|X		c.(391-393)aaC>aaG		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							207	191	197					3																	10188250		2203	4300	6503	SO:0001583	missense	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	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	g.chr3:10188250C>G	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.393C>G	3.37:g.10188250C>G	ENSP00000256474:p.Asn131Lys					VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	p.N131K	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	2	1233	+			131		N -> K (in VHLD; type I).|N -> T (in VHLD; type I).	Involved in binding to CCT complex.		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	c.393C>G	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396944	0.83120	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99806	-6.84	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	L	0.58810	1.83	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	D	0.97927	1.0318	10	0.49607	T	0.09	-21.5782	16.3181	0.82935	0.0:1.0:0.0:0.0	.	131	P40337	VHL_HUMAN	K	131;49	ENSP00000256474:N131K	ENSP00000256474:N131K	N	+	3	2	VHL	10163250	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	4.188000	0.58351	2.530000	0.85305	0.563000	0.77884	AAC		0.453	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		15	138	0	0	0	1	0	15	138					G	10188250	C	G	10188250	3	3	443	1	0	0	0	0	1	0	0	0	17159	506	18	5	399	5	VHL	3	10188250	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08		10188250	187834180	23	30463											
NR1D2	9975	broad.mit.edu	37	chr3	24006646	24006646	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccttttaaaggctgggaCttttgaggtaggttttattt	9	17	10	5	0	0	1	0	1	0	0	0	2	0	2	1	4	1	3	1	4	5	8			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:24006646C>A	ENST00000312521.4	+	6	1644	c.1325C>A	c.(1324-1326)aCt>aAt	p.T442N	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	442	Interaction with ZNHIT1.|Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AAGGCTGGGACTTTTGAGGTA	0.363																																						ENST00000312521.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						c.(1324-1326)aCt>aAt		nuclear receptor subfamily 1, group D, member 2							121	118	119					3																	24006646		2203	4300	6503	SO:0001583	missense	9975				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr3:24006646C>A	BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"Nuclear hormone receptors"	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.1325C>A	3.37:g.24006646C>A	ENSP00000310006:p.Thr442Asn					NR1D2_ENST00000492552.1_3'UTR	p.T442N	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN			6	1644	+			442					B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	c.1325C>A	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859330	0.91433	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.96587	-4.06	5.63	5.63	0.86233	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.044396	0.85682	D	0.000000	D	0.98466	0.9489	M	0.88241	2.94	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.98903	1.0777	10	0.72032	D	0.01	.	20.0294	0.97532	0.0:1.0:0.0:0.0	.	442	Q14995	NR1D2_HUMAN	N	442	ENSP00000310006:T442N	ENSP00000310006:T442N	T	+	2	0	NR1D2	23981650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.722000	0.84778	2.814000	0.96858	0.655000	0.94253	ACT		0.363	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			7	118	1	0	0.27861	1	0.280408	7	118					A	24006646	C	A	24006646	3	1	443	1	0	0	0	0	1	0	0	0	10616	565	20	5	1347	5	NR1D2	3	24006646	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	13818396	24006646	174015784	24	30464											
TRIM71	131405	broad.mit.edu	37	chr3	32932438	32932438	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctttcaaggtggtggtcaAgtcaggccgcagctacgtgg	7	9	14	11	2	3	0	3	0	0	0	3	0	3	0	2	5	2	2	2	5	3	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:32932438A>T	ENST00000383763.5	+	4	1805	c.1742A>T	c.(1741-1743)aAg>aTg	p.K581M		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	581					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGGTGGTCAAGTCAGGCCGC	0.602																																						ENST00000383763.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1741-1743)aAg>aTg		tripartite motif containing 71, E3 ubiquitin protein ligase							68	71	70					3																	32932438		2153	4253	6406	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32932438A>T		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1742A>T	3.37:g.32932438A>T	ENSP00000373272:p.Lys581Met						p.K581M	NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN			4	1805	+			581						Missense_Mutation	SNP	ENST00000383763.5	37	c.1742A>T	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.243520	0.58995	.	.	ENSG00000206557	ENST00000383763	D	0.84442	-1.85	5.71	5.71	0.89125	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89107	0.6621	L	0.55834	1.745	0.80722	D	1	D	0.67145	0.996	P	0.61800	0.894	D	0.88876	0.3336	10	0.45353	T	0.12	-40.2911	14.8116	0.70000	1.0:0.0:0.0:0.0	.	581	Q2Q1W2	LIN41_HUMAN	M	581	ENSP00000373272:K581M	ENSP00000373272:K581M	K	+	2	0	TRIM71	32907442	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.180000	0.69256	0.528000	0.53228	AAG		0.602	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		24	19	0	0	0	1	0	24	19					T	32932438	A	T	32932438	3	4	443	1	0	0	0	0	1	0	0	0	16541	72	3	5	1756	5	TRIM71	3	32932438	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	8925792	32932438	165089992	25	30465											
SCN11A	11280	broad.mit.edu	37	chr3	38936400	38936400	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctccttctaagtttccaTttctttcctcattgctaaag	7	18	3	13	0	4	0	1	0	3	0	7	0	6	0	4	0	1	2	4	0	3	7			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:38936400T>C	ENST00000302328.3	-	15	2657	c.2459A>G	c.(2458-2460)aAt>aGt	p.N820S	SCN11A_ENST00000444237.2_Missense_Mutation_p.N820S|SCN11A_ENST00000456224.3_Missense_Mutation_p.N820S|SCN11A_ENST00000450244.1_Missense_Mutation_p.N820S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	820					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAAGTTTCCATTTCTTTCCTC	0.448																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2458-2460)aAt>aGt		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						85	78	80					3																	38936400		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38936400T>C	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2459A>G	3.37:g.38936400T>C	ENSP00000307599:p.Asn820Ser					SCN11A_ENST00000444237.2_Missense_Mutation_p.N820S|SCN11A_ENST00000456224.3_Missense_Mutation_p.N820S|SCN11A_ENST00000450244.1_Missense_Mutation_p.N820S	p.N820S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	15	2657	-			820					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2459A>G	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	8.559	0.877390	0.17395	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.95588	-3.75;-3.75;-3.72;-3.61	4.86	2.4	0.29515	.	1.035500	0.07535	N	0.912974	D	0.84238	0.5428	N	0.02685	-0.53	0.19575	N	0.999963	B	0.20459	0.045	B	0.14023	0.01	T	0.75001	-0.3471	10	0.06625	T	0.88	.	4.9297	0.13910	0.1354:0.1539:0.0:0.7106	.	820	Q9UI33	SCNBA_HUMAN	S	820	ENSP00000307599:N820S;ENSP00000400945:N820S;ENSP00000416757:N820S;ENSP00000408028:N820S	ENSP00000307599:N820S	N	-	2	0	SCN11A	38911404	0.012000	0.17670	0.277000	0.24703	0.850000	0.48378	1.791000	0.38744	0.411000	0.25702	0.533000	0.62120	AAT		0.448	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		4	46	0	0	0	1	0	4	46					C	38936400	T	C	38936400	3	2	443	1	0	0	0	0	1	0	0	0	13913	1493	52	4	2964	4	SCN11A	3	38936400	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	6003962	38936400	159086030	26	30466											
CCBP2	1238	broad.mit.edu	37	chr3	42906763	42906763	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatagctgcagccttggtgGtggccttcttcgtgctatgg	6	13	13	9	1	1	0	0	0	1	0	2	0	1	0	2	4	4	3	2	4	3	5	rs368719352		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:42906763G>C	ENST00000422265.1	+	3	944	c.769G>C	c.(769-771)Gtg>Ctg	p.V257L	RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Missense_Mutation_p.V257L|ACKR2_ENST00000442925.1_Missense_Mutation_p.V257L|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	257					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										AGCCTTGGTGGTGGCCTTCTT	0.532																																						ENST00000422265.1																			0											c.(769-771)Gtg>Ctg		atypical chemokine receptor 2							158	140	146					3																	42906763		2203	4300	6503	SO:0001583	missense	1238							g.chr3:42906763G>C	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"GPCR / Class A : Chemokine receptors : Atypical"	1565	protein-coding gene	gene with protein product		602648	"chemokine binding protein 2"	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.769G>C	3.37:g.42906763G>C	ENSP00000416996:p.Val257Leu					ACKR2_ENST00000273145.2_Missense_Mutation_p.V257L|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.V257L|ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron	p.V257L	NM_001296.4	NP_001287.2					3	944	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	c.769G>C	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010765	0.35511	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.34072	1.38;1.38;1.38	4.49	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.336929	0.20591	N	0.089356	T	0.19087	0.0458	N	0.24115	0.695	0.80722	D	1	B	0.21606	0.058	B	0.21360	0.034	T	0.05989	-1.0852	9	.	.	.	.	4.1115	0.10062	0.259:0.0:0.5715:0.1695	.	257	O00590	CCBP2_HUMAN	L	257	ENSP00000396150:V257L;ENSP00000416996:V257L;ENSP00000273145:V257L	.	V	+	1	0	CCBP2	42881767	0.000000	0.05858	1.000000	0.80357	0.655000	0.38815	-0.286000	0.08399	1.083000	0.41159	0.563000	0.77884	GTG		0.532	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		47	70	0	0	0	1	0	47	70					C	42906763	G	C	42906763	3	2	443	1	0	0	0	0	1	0	0	0	2734	1261	44	5	771	5	CCBP2	3	42906763	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	3970363	42906763	155115667	27	30467											
CCR1	1230	broad.mit.edu	37	chr3	46244792	46244792	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagatgtggagctgaccCtctccagcctgtccacggag	8	7	14	12	1	1	2	0	1	1	1	3	5	2	4	4	3	2	1	4	3	0	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:46244792C>G	ENST00000296140.3	-	2	1138	c.1013G>C	c.(1012-1014)aGg>aCg	p.R338T	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	338					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			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)		GGAGCTGACCCTCTCCAGCCT	0.587																																						ENST00000296140.3																			0				autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17						c.(1012-1014)aGg>aCg		chemokine (C-C motif) receptor 1							64	59	61					3																	46244792		2203	4300	6503	SO:0001583	missense	1230				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	g.chr3:46244792C>G		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.1013G>C	3.37:g.46244792C>G	ENSP00000296140:p.Arg338Thr					CCR3_ENST00000357422.2_Intron	p.R338T	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	1138	-			338					Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	c.1013G>C	CCDS2737.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781538	0.70222	.	.	ENSG00000163823	ENST00000296140	T	0.65549	-0.16	5.29	5.29	0.74685	.	2.572970	0.01001	N	0.003670	D	0.83289	0.5222	M	0.73598	2.24	0.42354	D	0.992385	D	0.89917	1.0	D	0.91635	0.999	T	0.66204	-0.5982	10	0.49607	T	0.09	.	17.4705	0.87645	0.0:1.0:0.0:0.0	.	338	P32246	CCR1_HUMAN	T	338	ENSP00000296140:R338T	ENSP00000296140:R338T	R	-	2	0	CCR1	46219796	0.708000	0.27876	0.988000	0.46212	0.950000	0.60333	2.843000	0.48238	2.637000	0.89404	0.549000	0.68633	AGG		0.587	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		17	14	0	0	0	1	0	17	14					G	46244792	C	G	46244792	3	3	443	1	0	0	0	0	1	0	0	0	2939	681	24	5	58	5	CCR1	3	46244792	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	3338029	46244792	151777638	28	30468											
PBRM1	55193	broad.mit.edu	37	chr3	52598071	52598071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttcaagctttacctgaaGtagtaaatttcatcatctac	12	17	4	8	0	4	1	3	1	1	0	4	1	4	1	1	0	3	3	1	0	7	8			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:52598071G>A	ENST00000296302.7	-	23	3871	c.3870C>T	c.(3868-3870)taC>taT	p.Y1290Y	PBRM1_ENST00000356770.4_Silent_p.Y1258Y|PBRM1_ENST00000409114.3_Silent_p.Y1305Y|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409057.1_Silent_p.Y1290Y|PBRM1_ENST00000337303.4_Silent_p.Y1290Y|PBRM1_ENST00000409767.1_Silent_p.Y1305Y|PBRM1_ENST00000410007.1_Silent_p.Y1265Y|PBRM1_ENST00000394830.3_Silent_p.Y1265Y			Q86U86	PB1_HUMAN	polybromo 1	1290					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(3)		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)		TTTACCTGAAGTAGTAAATTT	0.348			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"Mis, N, F, S, D, O"	polybromo 1			E			"clear cell renal carcinoma, breast"		3	Unknown(3)	p.?(3)	kidney(3)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3772-3774)taC>taT		polybromo 1							90	89	89					3																	52598071		2203	4300	6503	SO:0001819	synonymous_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52598071G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3870C>T	3.37:g.52598071G>A						SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000296302.7_Silent_p.Y1290Y|PBRM1_ENST00000409767.1_Silent_p.Y1305Y|PBRM1_ENST00000394830.3_Silent_p.Y1265Y|PBRM1_ENST00000409114.3_Silent_p.Y1305Y|PBRM1_ENST00000337303.4_Silent_p.Y1290Y|PBRM1_ENST00000409057.1_Silent_p.Y1290Y|PBRM1_ENST00000410007.1_Silent_p.Y1265Y	p.Y1258Y			Q86U86	PB1_HUMAN		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)	22	3776	-			1290			BAH 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37	c.3774C>T																																																																																					0.348	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		30	30	0	0	0	1	0	30	30					A	52598071	G	A	52598071	2	1	443	1	0	0	0	0	0	0	0	1	11491	1024	36	3		3	PBRM1	3	52598071	Silent	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	6353279	52598071	145424359	29	30469											
ITIH1	3697	broad.mit.edu	37	chr3	52815957	52815957	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acactctcgacggttccaggGtcatgtgctgttccgtccca	6	11	10	14	3	2	0	1	0	1	0	6	1	5	0	3	2	1	3	3	2	0	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:52815957G>T	ENST00000273283.2	+	7	713	c.689G>T	c.(688-690)gGt>gTt	p.G230V	ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000542827.1_Splice_Site_p.G230V|ITIH1_ENST00000540715.1_Splice_Site_p.G88V	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	230					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			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)		CGGTTCCAGGGTCATGTGCTG	0.517																																						ENST00000273283.2																			0				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						c.e7-1		inter-alpha-trypsin inhibitor heavy chain 1							148	117	127					3																	52815957		2203	4300	6503	SO:0001630	splice_region_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52815957G>T		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.688-1G>T	3.37:g.52815957G>T						ITIH1_ENST00000540715.1_Splice_Site_p.G88_splice|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000542827.1_Splice_Site_p.G230_splice|ITIH1_ENST00000487686.1_3'UTR	p.G230_splice	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		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)	7	713	+			230					A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Splice_Site	SNP	ENST00000273283.2	37	c.687_splice	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093939	0.56075	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715	T;T;T	0.02067	4.47;4.97;4.87	5.54	5.54	0.83059	.	0.098173	0.64402	D	0.000001	T	0.07863	0.0197	M	0.67953	2.075	0.80722	D	1	P	0.49783	0.928	P	0.54100	0.742	T	0.00331	-1.1811	10	0.87932	D	0	-18.2956	13.0261	0.58817	0.0:0.1618:0.8382:0.0	.	230	P19827	ITIH1_HUMAN	V	230;230;88	ENSP00000442584:G230V;ENSP00000273283:G230V;ENSP00000443973:G88V	ENSP00000273283:G230V	G	+	2	0	ITIH1	52790997	1.000000	0.71417	0.998000	0.56505	0.243000	0.25628	3.482000	0.53186	2.754000	0.94517	0.655000	0.94253	GGT		0.517	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215	Missense_Mutation	4	47	1	0	1.024e-07	1	1.14924e-07	4	47					T	52815957	G	T	52815957	5	4	443	1	0	0	0	0	0	0	1	0	7903	1275	44	5	715	5	ITIH1	3	52815957	Splice_Site	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	217886	52815957	145206473	30	30470											
OR5K2	402135	broad.mit.edu	37	chr3	98216556	98216556	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcataccatgaaaaatgAgtttatcctcacaggattta	17	12	5	7	0	2	2	2	2	0	0	3	3	3	3	2	1	1	1	2	1	6	5			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:98216556A>T	ENST00000427338.1	+	1	109	c.32A>T	c.(31-33)gAg>gTg	p.E11V		NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ATGAAAAATGAGTTTATCCTC	0.383																																						ENST00000427338.1																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(31-33)gAg>gTg		olfactory receptor, family 5, subfamily K, member 2							86	86	86					3																	98216556		2203	4300	6503	SO:0001583	missense	402135				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98216556A>T	AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"GPCR / Class A : Olfactory receptors"	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.32A>T	3.37:g.98216556A>T	ENSP00000393889:p.Glu11Val						p.E11V	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN			1	109	+			11					B2RN70|Q6IF47	Missense_Mutation	SNP	ENST00000427338.1	37	c.32A>T	CCDS33804.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663673	0.29515	.	.	ENSG00000231861	ENST00000427338	T	0.01139	5.28	2.91	1.69	0.24217	.	0.166361	0.28219	N	0.016155	T	0.02807	0.0084	M	0.83603	2.65	0.09310	N	1	P	0.48764	0.915	P	0.49597	0.616	T	0.33979	-0.9847	10	0.59425	D	0.04	-5.2285	3.1691	0.06546	0.6133:0.2517:0.135:0.0	.	11	Q8NHB8	OR5K2_HUMAN	V	11	ENSP00000393889:E11V	ENSP00000393889:E11V	E	+	2	0	OR5K2	99699246	0.000000	0.05858	0.941000	0.38009	0.422000	0.31414	0.949000	0.29109	0.484000	0.27630	0.248000	0.18094	GAG		0.383	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2			39	38	0	0	0	1	0	39	38					T	98216556	A	T	98216556	3	4	443	1	0	0	0	0	1	0	0	0	11167	304	11	5	34	5	OR5K2	3	98216556	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	45400599	98216556	99805874	31	30471											
GPR87	53836	broad.mit.edu	37	chr3	151012739	151012739	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaatcctgcatcatggaCtattcgaaatggaaatgtca	14	11	7	9	1	2	0	2	0	0	0	5	3	4	2	2	2	1	1	2	2	4	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:151012739C>G	ENST00000260843.4	-	3	759	c.295G>C	c.(295-297)Gtc>Ctc	p.V99L	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	99					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCATCATGGACTATTCGAAAT	0.373																																						ENST00000260843.4																			0				endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(295-297)Gtc>Ctc		G protein-coupled receptor 87							139	137	138					3																	151012739		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012739C>G	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"GPCR / Class A : Orphans"	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.295G>C	3.37:g.151012739C>G	ENSP00000260843:p.Val99Leu					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	p.V99L	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	759	-			99					Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.295G>C	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.337584	0.01287	.	.	ENSG00000138271	ENST00000260843	T	0.29397	1.57	5.31	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.271256	0.32041	N	0.006665	T	0.09642	0.0237	N	0.02213	-0.635	0.09310	N	1	B	0.21905	0.062	B	0.18871	0.023	T	0.29882	-0.9997	10	0.09843	T	0.71	-11.8776	4.8444	0.13507	0.0:0.5737:0.1566:0.2697	.	99	Q9BY21	GPR87_HUMAN	L	99	ENSP00000260843:V99L	ENSP00000260843:V99L	V	-	1	0	GPR87	152495429	0.802000	0.28943	0.831000	0.32960	0.780000	0.44128	0.750000	0.26334	1.369000	0.46134	-0.137000	0.14449	GTC		0.373	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			9	45	0	0	0	1	0	9	45					G	151012739	C	G	151012739	3	3	443	1	0	0	0	0	1	0	0	0	6716	565	20	5	785	5	GPR87	3	151012739	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	52796183	151012739	47009691	32	30472											
KPNA4	3840	broad.mit.edu	37	chr3	160243734	160243734	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtgtttacctcctgaaTggtttccattggtggtggtg	8	15	12	6	0	0	1	0	1	0	0	2	1	2	1	3	4	1	2	3	4	4	4			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:160243734T>C	ENST00000334256.4	-	9	1023	c.718A>G	c.(718-720)Att>Gtt	p.I240V		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	240					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ACCTCCTGAATGGTTTCCATT	0.303																																						ENST00000334256.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22						c.(718-720)Att>Gtt		karyopherin alpha 4 (importin alpha 3)							67	71	70					3																	160243734		2200	4298	6498	SO:0001583	missense	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160243734T>C	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"Importins", "Armadillo repeat containing"	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.718A>G	3.37:g.160243734T>C	ENSP00000334373:p.Ile240Val						p.I240V	NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		9	1023	-			240					A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	c.718A>G	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	T	6.605	0.480012	0.12581	.	.	ENSG00000186432	ENST00000334256	T	0.69926	-0.44	4.97	4.97	0.65823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46425	0.1392	N	0.13235	0.315	0.80722	D	1	B	0.10296	0.003	B	0.20577	0.03	T	0.42899	-0.9424	10	0.02654	T	1	-6.2125	14.8215	0.70077	0.0:0.0:0.0:1.0	.	240	O00629	IMA4_HUMAN	V	240	ENSP00000334373:I240V	ENSP00000334373:I240V	I	-	1	0	KPNA4	161726428	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.819000	0.86621	2.084000	0.62774	0.533000	0.62120	ATT		0.303	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		47	40	0	0	0	1	0	47	40					C	160243734	T	C	160243734	3	2	443	1	0	0	0	0	1	0	0	0	8432	1464	51	4	883	4	KPNA4	3	160243734	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	9230995	160243734	37778696	33	30473											
SLC7A14	57709	broad.mit.edu	37	chr3	170218900	170218900	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtggcagtctcacccAggccattgagggttcccacg	8	8	13	12	1	1	1	1	1	1	0	3	2	2	2	3	4	0	2	3	4	0	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:170218900A>C	ENST00000231706.5	-	3	854	c.539T>G	c.(538-540)cTg>cGg	p.L180R	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	180					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGTCTCACCCAGGCCATTGAG	0.517																																						ENST00000231706.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(538-540)cTg>cGg		solute carrier family 7, member 14							68	63	65					3																	170218900		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170218900A>C	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.539T>G	3.37:g.170218900A>C	ENSP00000231706:p.Leu180Arg					CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	p.L180R	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		3	854	-	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)		180					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.539T>G	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163213	0.57476	.	.	ENSG00000013293	ENST00000231706	D	0.89939	-2.59	5.26	5.26	0.73747	Amino acid permease domain (1);	0.157646	0.45606	D	0.000349	D	0.92087	0.7492	M	0.64997	1.995	0.58432	D	0.999999	D	0.71674	0.998	D	0.66196	0.942	D	0.89763	0.3948	10	0.15499	T	0.54	.	15.4595	0.75342	1.0:0.0:0.0:0.0	.	180	Q8TBB6	S7A14_HUMAN	R	180	ENSP00000231706:L180R	ENSP00000231706:L180R	L	-	2	0	SLC7A14	171701594	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.826000	0.92034	2.108000	0.64289	0.459000	0.35465	CTG		0.517	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		18	32	0	0	0	1	0	18	32					C	170218900	A	C	170218900	3	2	443	1	0	0	0	0	1	0	0	0	14696	188	7	5	1800	5	SLC7A14	3	170218900	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	9975166	170218900	27803530	34	30474											
TFRC	7037	broad.mit.edu	37	chr3	195800839	195800839	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgctgtccagtttctcCgacaactttctcttcaggtc	5	16	7	13	1	4	0	1	0	3	0	8	1	5	0	2	1	2	2	2	1	1	3	rs150889988	byFrequency	TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:195800839C>T	ENST00000360110.4	-	4	565	c.396G>A	c.(394-396)tcG>tcA	p.S132S	TFRC_ENST00000420415.1_Silent_p.S51S|RNU7-18P_ENST00000516365.1_RNA|TFRC_ENST00000392396.3_Silent_p.S132S|TFRC_ENST00000535031.1_Intron|TFRC_ENST00000540528.1_3'UTR	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	132					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	CCAGTTTCTCCGACAACTTTC	0.517			T	BCL6	NHL						OREG0016005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	2	0.000399361	0.0015	0	5008	,	,		18229	0		0	False		,,,				2504	0					ENST00000360110.4				Dom	yes		3	3q29	7037	T	"transferrin receptor (p90, CD71)"			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(394-396)tcG>tcA		transferrin receptor		C	,	3,4403	6.2+/-15.9	0,3,2200	89	81	84		396,396	0.2	0.7	3	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TFRC	NM_001128148.1,NM_003234.2	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	132/761,132/761	195800839	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7037				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	g.chr3:195800839C>T	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"CD molecules"	11763	protein-coding gene	gene with protein product		190010	"transferrin receptor (p90, CD71)"				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.396G>A	3.37:g.195800839C>T			OREG0016005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2078	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Intron|TFRC_ENST00000392396.3_Silent_p.S132S|TFRC_ENST00000420415.1_Silent_p.S51S	p.S132S	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	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)	4	565	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		132					D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Silent	SNP	ENST00000360110.4	37	c.396G>A	CCDS3312.1																																																																																				0.517	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			21	31	0	0	0	1	0	21	31					T	195800839	C	T	195800839	2	4	443	1	0	0	0	0	0	0	0	1	15809	639	23	2		2	TFRC	3	195800839	Silent	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	25581939	195800839	2221591	35	30475											
BOD1L	259282	broad.mit.edu	37	chr4	13604756	13604756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcagcagctgtgtttttCaaattcttctgtaccctatc	7	18	5	11	0	5	0	2	0	3	0	6	0	5	0	1	0	3	4	1	0	3	7			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:13604756C>T	ENST00000040738.5	-	10	3903	c.3768G>A	c.(3766-3768)ttG>ttA	p.L1256L		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1256						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTGTGTTTTTCAAATTCTTCT	0.393																																						ENST00000040738.5																			0											c.(3766-3768)ttG>ttA		biorientation of chromosomes in cell division 1-like 1							81	77	78					4																	13604756		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13604756C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3768G>A	4.37:g.13604756C>T							p.L1256L	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	3903	-			1256					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.3768G>A	CCDS3411.2																																																																																				0.393	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		14	21	0	0	0	1	0	14	21					T	13604756	C	T	13604756	2	4	443	1	0	0	0	0	0	0	0	1	1483	825	29	3		3	BOD1L	4	13604756	Silent	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08		13604756	177549520	36	30476											
ANTXR2	118429	broad.mit.edu	37	chr4	80954651	80954651	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatatgtttcatttacagtGtaagtgcagagaacactgcc	12	13	9	7	0	1	1	1	0	0	1	1	2	1	1	1	0	4	4	1	0	5	6	rs201698217	byFrequency	TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:80954651G>T	ENST00000307333.7	-	9	773	c.771C>A	c.(769-771)taC>taA	p.Y257*	ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000295465.4_Nonsense_Mutation_p.Y257*|ANTXR2_ENST00000404191.1_Nonsense_Mutation_p.Y180*|ANTXR2_ENST00000403729.2_Nonsense_Mutation_p.Y257*	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	257					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CATTTACAGTGTAAGTGCAGA	0.378									Juvenile Hyaline Fibromatosis																													ENST00000403729.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						c.(769-771)taC>taA		anthrax toxin receptor 2							101	97	99					4																	80954651		1903	4126	6029	SO:0001587	stop_gained	118429	Juvenile Hyaline Fibromatosis	Familial Cancer Database	incl. Infantile Systemic Hyalinosis		endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity	g.chr4:80954651G>T	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"capillary morphogenesis protein 2"	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.771C>A	4.37:g.80954651G>T	ENSP00000306185:p.Tyr257*					ANTXR2_ENST00000295465.4_Nonsense_Mutation_p.Y257*|ANTXR2_ENST00000404191.1_Nonsense_Mutation_p.Y180*|ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000307333.7_Nonsense_Mutation_p.Y257*	p.Y257*	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN			9	1296	-			257					Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Nonsense_Mutation	SNP	ENST00000307333.7	37	c.771C>A	CCDS47086.1	.	.	.	.	.	.	.	.	.	.	G	40	8.219966	0.98712	.	.	ENSG00000163297	ENST00000403729;ENST00000404191;ENST00000307333;ENST00000295465	.	.	.	5.71	-0.285	0.12866	.	0.342931	0.34932	N	0.003565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-1.5158	4.4741	0.11726	0.5768:0.0:0.256:0.1671	.	.	.	.	X	257;180;257;257	.	ENSP00000295465:Y257X	Y	-	3	2	ANTXR2	81173675	0.001000	0.12720	0.008000	0.14137	0.444000	0.32077	-0.217000	0.09253	-0.011000	0.14247	0.585000	0.79938	TAC		0.378	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		16	12	1	0	1.00905e-13	1	1.15744e-13	16	12					T	80954651	G	T	80954651	4	4	443	1	0	0	0	0	0	1	0	0	712	1372	48	5	773	5	ANTXR2	4	80954651	Nonsense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	67349895	80954651	110199625	37	30477											
PRDM8	56978	broad.mit.edu	37	chr4	81123131	81123131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgagttcccctatgtggCgcatctgcgtttccgctgcc	3	14	11	13	3	1	1	0	1	1	0	3	1	3	1	4	1	2	5	4	1	1	4			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:81123131C>T	ENST00000504452.1	+	8	1354	c.515C>T	c.(514-516)gCg>gTg	p.A172V	PRDM8_ENST00000339711.4_Missense_Mutation_p.A172V|PRDM8_ENST00000415738.2_Missense_Mutation_p.A172V			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	172					corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCCTATGTGGCGCATCTGCGT	0.597											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(514-516)gCg>gTg		PR domain containing 8							126	137	133					4																	81123131		2139	4236	6375	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123131C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.515C>T	4.37:g.81123131C>T	ENSP00000423985:p.Ala172Val		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_Missense_Mutation_p.A172V|PRDM8_ENST00000415738.2_Missense_Mutation_p.A172V	p.A172V	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1746	+			172					A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.515C>T	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006288	0.93287	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.67345	-0.26;0.31;-0.26;-0.26	5.05	4.2	0.49525	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.79417	0.4442	M	0.67397	2.05	0.58432	D	0.999996	D	0.89917	1.0	D	0.71656	0.974	T	0.82174	-0.0588	10	0.72032	D	0.01	.	15.2416	0.73474	0.0:0.8587:0.1413:0.0	.	172	Q9NQV8	PRDM8_HUMAN	V	172	ENSP00000423985:A172V;ENSP00000425149:A172V;ENSP00000339764:A172V;ENSP00000406998:A172V	ENSP00000339764:A172V	A	+	2	0	PRDM8	81342155	1.000000	0.71417	0.994000	0.49952	0.745000	0.42441	7.239000	0.78182	1.336000	0.45506	0.313000	0.20887	GCG		0.597	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			67	86	0	0	0	1	0	67	86					T	81123131	C	T	81123131	3	4	443	1	0	0	0	0	1	0	0	0	12462	768	27	1	525	1	PRDM8	4	81123131	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	168480	81123131	110031145	38	30478											
RASGEF1B	153020	broad.mit.edu	37	chr4	82355073	82355073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatggacactccacttgtttCcatgtcataaattcactcac	12	13	4	12	0	3	0	3	0	0	0	5	1	5	1	2	1	0	1	2	1	3	4			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:82355073C>G	ENST00000264400.2	-	12	1396	c.1245G>C	c.(1243-1245)tgG>tgC	p.W415C	RASGEF1B_ENST00000509081.1_Missense_Mutation_p.W414C|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.W373C	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	415	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						CCACTTGTTTCCATGTCATAA	0.378																																						ENST00000509081.1																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(1240-1242)tgG>tgC		RasGEF domain family, member 1B							212	191	198					4																	82355073		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82355073C>G	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.1245G>C	4.37:g.82355073C>G	ENSP00000264400:p.Trp415Cys					RASGEF1B_ENST00000264400.2_Missense_Mutation_p.W415C|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.W373C	p.W414C			Q0VAM2	RGF1B_HUMAN			12	1463	-			415			Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.1242G>C	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764149	0.69878	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927	T;T;T	0.28069	1.63;1.63;1.63	5.05	5.05	0.67936	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	L	0.46157	1.445	0.80722	D	1	P;P;P	0.47962	0.903;0.903;0.556	P;P;B	0.52881	0.712;0.712;0.321	T	0.20371	-1.0277	10	0.51188	T	0.08	.	18.1775	0.89766	0.0:1.0:0.0:0.0	.	373;414;415	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	C	414;415;373	ENSP00000425393:W414C;ENSP00000264400:W415C;ENSP00000338437:W373C	ENSP00000264400:W415C	W	-	3	0	RASGEF1B	82574097	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.270000	0.78493	2.640000	0.89533	0.585000	0.79938	TGG		0.378	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		11	202	0	0	0	1	0	11	202					G	82355073	C	G	82355073	3	3	443	1	0	0	0	0	1	0	0	0	13070	856	30	5	188	5	RASGEF1B	4	82355073	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	1231942	82355073	108799203	39	30479											
MMRN1	22915	broad.mit.edu	37	chr4	90816530	90816530	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatcagtggtcctttccaaTtctacactgaaatttcttca	11	15	5	10	0	4	1	2	1	2	0	6	2	6	1	2	1	1	0	2	1	4	5			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:90816530T>C	ENST00000394980.1	+	2	727	c.408T>C	c.(406-408)aaT>aaC	p.N136N	MMRN1_ENST00000264790.2_Silent_p.N136N|MMRN1_ENST00000394981.1_Silent_p.N102N			Q13201	MMRN1_HUMAN	multimerin 1	136					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCCTTTCCAATTCTACACTGA	0.458																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(406-408)aaT>aaC		multimerin 1							112	109	110					4																	90816530		2203	4300	6503	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90816530T>C	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.408T>C	4.37:g.90816530T>C						MMRN1_ENST00000264790.2_Silent_p.N136N|MMRN1_ENST00000394981.1_Silent_p.N102N	p.N136N			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	2	727	+		Hepatocellular(203;0.114)	136					Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.408T>C	CCDS3635.1																																																																																				0.458	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		47	62	0	0	0	1	0	47	62					C	90816530	T	C	90816530	2	2	443	1	0	0	0	0	0	0	0	1	9670	1490	52	4		4	MMRN1	4	90816530	Silent	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	8461457	90816530	100337746	40	30480											
NDST4	64579	broad.mit.edu	37	chr4	115997694	115997694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtaagctgttctcattggCtttatgaaaaccgattatac	11	15	8	7	1	1	1	1	1	1	0	2	2	1	1	1	2	3	4	1	2	6	7			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:115997694C>T	ENST00000264363.2	-	2	1177	c.499G>A	c.(499-501)Gcc>Acc	p.A167T		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	167	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCTCATTGGCTTTATGAAAA	0.353																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(499-501)Gcc>Acc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							69	72	71					4																	115997694		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997694C>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.499G>A	4.37:g.115997694C>T	ENSP00000264363:p.Ala167Thr						p.A167T	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1177	-		Ovarian(17;0.156)	167			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.499G>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439589	0.43326	.	.	ENSG00000138653	ENST00000264363	T	0.37915	1.17	5.25	5.25	0.73442	.	0.052097	0.85682	D	0.000000	T	0.37679	0.1012	L	0.52206	1.635	0.58432	D	0.999997	B	0.15141	0.012	B	0.24006	0.05	T	0.12372	-1.0550	10	0.27082	T	0.32	.	18.8669	0.92296	0.0:1.0:0.0:0.0	.	167	Q9H3R1	NDST4_HUMAN	T	167	ENSP00000264363:A167T	ENSP00000264363:A167T	A	-	1	0	NDST4	116217143	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.923000	0.56469	2.437000	0.82529	0.591000	0.81541	GCC		0.353	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		30	32	0	0	0	1	0	30	32					T	115997694	C	T	115997694	3	4	443	1	0	0	0	0	1	0	0	0	10258	797	28	3	2171	3	NDST4	4	115997694	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	25181164	115997694	75156582	41	30481											
NPY5R	4889	broad.mit.edu	37	chr4	164272284	164272284	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattcatcaaaaaacacagaAgaagatatagcaagaagaca	23	5	6	7	0	2	5	2	0	0	5	2	5	2	5	0	0	2	1	0	0	9	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:164272284A>C	ENST00000515560.1	+	4	2381	c.859A>C	c.(859-861)Aga>Cga	p.R287R	NPY5R_ENST00000506953.1_Silent_p.R287R|NPY5R_ENST00000338566.3_Silent_p.R287R			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	287					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAAACACAGAAGAAGATATAG	0.413																																					Melanoma(139;1287 1774 9781 19750 25599)	ENST00000515560.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(859-861)Aga>Cga		neuropeptide Y receptor Y5							92	93	93					4																	164272284		2203	4300	6503	SO:0001819	synonymous_variant	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272284A>C	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"GPCR / Class A : Neuropeptide receptors : Y"	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.859A>C	4.37:g.164272284A>C						NPY5R_ENST00000506953.1_Silent_p.R287R|NPY5R_ENST00000338566.3_Silent_p.R287R	p.R287R			Q15761	NPY5R_HUMAN			4	2381	+	all_hematologic(180;0.166)	Prostate(90;0.109)	287					Q6GTR7|Q92916	Silent	SNP	ENST00000515560.1	37	c.859A>C	CCDS3804.1																																																																																				0.413	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		44	43	0	0	0	1	0	44	43					C	164272284	A	C	164272284	2	2	443	1	0	0	0	0	0	0	0	1	10610	64	3	5		5	NPY5R	4	164272284	Silent	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	48274590	164272284	26881992	42	30482											
TRIP13	9319	broad.mit.edu	37	chr5	914586	914586	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtctccccagtgtcagAtcatataccctcgccagcag	8	11	7	15	1	4	1	2	0	2	1	6	1	4	1	4	0	2	1	4	0	2	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:914586A>G	ENST00000166345.3	+	11	1383	c.1027A>G	c.(1027-1029)Atc>Gtc	p.I343V		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	343					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CCAGTGTCAGATCATATACCC	0.512																																						ENST00000166345.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18						c.(1027-1029)Atc>Gtc		thyroid hormone receptor interactor 13							154	157	156					5																	914586		2203	4300	6503	SO:0001583	missense	9319				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	g.chr5:914586A>G	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"ATPases / AAA-type"	12307	protein-coding gene	gene with protein product	"thyroid receptor interacting protein 13"	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.1027A>G	5.37:g.914586A>G	ENSP00000166345:p.Ile343Val						p.I343V	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)		11	1383	+			343					C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	c.1027A>G	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	14.26	2.481948	0.44147	.	.	ENSG00000071539	ENST00000166345	D	0.95171	-3.63	5.8	4.62	0.57501	.	0.196102	0.50627	D	0.000102	D	0.89114	0.6623	N	0.25201	0.72	0.58432	D	0.999998	B	0.22909	0.077	B	0.19666	0.026	D	0.84119	0.0405	10	0.34782	T	0.22	-27.7761	12.7301	0.57193	0.8623:0.1377:0.0:0.0	.	343	Q15645	PCH2_HUMAN	V	343	ENSP00000166345:I343V	ENSP00000166345:I343V	I	+	1	0	TRIP13	967586	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.284000	0.58983	1.002000	0.39104	0.533000	0.62120	ATC		0.512	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		7	232	0	0	0	1	0	7	232					G	914586	A	G	914586	3	3	443	1	0	0	0	0	1	0	0	0	16554	333	12	4	1073	4	TRIP13	5	914586	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08		914586	180000674	43	30483											
CDH12	1010	broad.mit.edu	37	chr5	21752123	21752123	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttccatgggtggtctcTgacgaggtaaacagagagag	11	10	13	7	1	2	3	0	1	2	2	4	5	3	3	1	3	1	1	1	3	3	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:21752123T>C	ENST00000382254.1	-	15	3194	c.2108A>G	c.(2107-2109)cAg>cGg	p.Q703R	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.Q703R|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.Q663R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	703					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGGTGGTCTCTGACGAGGTAA	0.458										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2107-2109)cAg>cGg		cadherin 12, type 2 (N-cadherin 2)							228	198	208					5																	21752123		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21752123T>C	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2108A>G	5.37:g.21752123T>C	ENSP00000371689:p.Gln703Arg	HNSCC(59;0.17)				CDH12_ENST00000522262.1_Missense_Mutation_p.Q663R|CDH12_ENST00000504376.2_Missense_Mutation_p.Q703R|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	p.Q703R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			15	3194	-			703					B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.2108A>G	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	4.071	0.010931	0.07912	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.75821	-0.97;-0.97;-0.97	5.12	5.12	0.69794	Cadherin, cytoplasmic domain (1);	0.054215	0.85682	D	0.000000	T	0.45597	0.1350	N	0.02379	-0.575	0.43793	D	0.99633	B;B	0.19073	0.0;0.033	B;B	0.20184	0.001;0.028	T	0.48714	-0.9011	10	0.05959	T	0.93	.	11.5734	0.50848	0.0:0.0:0.1492:0.8508	.	663;703	B7Z2U6;P55289	.;CAD12_HUMAN	R	703;703;663	ENSP00000423577:Q703R;ENSP00000371689:Q703R;ENSP00000428786:Q663R	ENSP00000371689:Q703R	Q	-	2	0	CDH12	21787880	0.986000	0.35501	0.999000	0.59377	0.981000	0.71138	1.011000	0.29911	1.942000	0.56320	0.383000	0.25322	CAG		0.458	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		4	114	0	0	0	1	0	4	114					C	21752123	T	C	21752123	3	2	443	1	0	0	0	0	1	0	0	0	3098	1580	55	4	280	4	CDH12	5	21752123	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	20837537	21752123	159163137	44	30484											
FCHO2	115548	broad.mit.edu	37	chr5	72354260	72354260	+	Splice_Site	DEL	A	A	-																															ttttaaaaatattatggtagAaaaggaaccagtgatttact																								rs367890694		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:72354260delA	ENST00000430046.2	+	17	1370	c.1254delA	c.(1252-1254)gaa>ga	p.E418fs	FCHO2_ENST00000341845.6_Splice_Site_p.E418fs|FCHO2_ENST00000512348.1_Splice_Site_p.E385fs	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	418					clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		ATTATGGTAGAAAAGGAACCA	0.289																																						ENST00000430046.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17						c.e17-1		FCH domain only 2							50	47	48					5																	72354260		1782	4058	5840	SO:0001630	splice_region_variant	115548							g.chr5:72354260delA	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1254-1A>-	5.37:g.72354260delA						FCHO2_ENST00000512348.1_Splice_Site_p.E385_splice|FCHO2_ENST00000341845.6_Splice_Site_p.E418_splice	p.E418_splice	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	17	1370	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	418					A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Splice_Site	DEL	ENST00000430046.2	37	c.1253_splice	CCDS47230.1																																																																																				0.289	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142	Frame_Shift_Del	2	4						2	4	---	---	---	---	-	72354260	A	-	72354260	8	5	443	1	0	1	0	1	0	0	1	0	5788	260	9	0	1320	0	FCHO2	5	72354260	Splice_Site	DEL	A	TCGA-XQ-A8TA-01A-11D-A364-08	50602137	72354260	108561000	45	30485											
ARSB	411	broad.mit.edu	37	chr5	78251233	78251233	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgcatagtgatgcctgttCttgtcttggataaagtcata	9	15	9	8	0	3	1	1	1	2	0	3	2	3	2	2	1	2	2	2	1	4	6	rs575119903	byFrequency	TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:78251233C>G	ENST00000264914.4	-	4	1319	c.783G>C	c.(781-783)aaG>aaC	p.K261N	ARSB_ENST00000565165.1_Missense_Mutation_p.K261N|ARSB_ENST00000396151.3_Missense_Mutation_p.K261N	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	261					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GATGCCTGTTCTTGTCTTGGA	0.478																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(781-783)aaG>aaC		arylsulfatase B							164	147	153					5																	78251233		2203	4300	6503	SO:0001583	missense	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78251233C>G	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"Arylsulfatase family"	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.783G>C	5.37:g.78251233C>G	ENSP00000264914:p.Lys261Asn					ARSB_ENST00000565165.1_Missense_Mutation_p.K261N|ARSB_ENST00000396151.3_Missense_Mutation_p.K261N	p.K261N	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	4	1319	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	261					B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	c.783G>C	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	C	9.187	1.024958	0.19433	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.98567	-5.0;-5.0	5.55	3.76	0.43208	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.538750	0.22223	N	0.062929	D	0.94905	0.8353	L	0.49699	1.58	0.35475	D	0.797652	B;B	0.32781	0.384;0.002	B;B	0.29353	0.101;0.009	D	0.93137	0.6538	10	0.19590	T	0.45	.	5.5396	0.17031	0.0:0.5948:0.1526:0.2525	.	261;261	Q8N322;P15848	.;ARSB_HUMAN	N	261	ENSP00000264914:K261N;ENSP00000379455:K261N	ENSP00000264914:K261N	K	-	3	2	ARSB	78286989	0.761000	0.28439	0.999000	0.59377	0.997000	0.91878	0.873000	0.28052	1.346000	0.45694	0.591000	0.81541	AAG		0.478	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		14	3	0	0	0	1	0	14	3					G	78251233	C	G	78251233	3	3	443	1	0	0	0	0	1	0	0	0	988	912	32	5	871	5	ARSB	5	78251233	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	5896973	78251233	102664027	46	30486											
APC	324	broad.mit.edu	37	chr5	112175856	112175856	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatacagaaagatgtggaatTaagaataatgcctccagttc	16	11	8	6	0	0	3	0	0	0	3	2	4	1	4	2	1	2	1	2	1	7	5			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:112175856T>G	ENST00000457016.1	+	16	4945	c.4565T>G	c.(4564-4566)tTa>tGa	p.L1522*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.L1522*|APC_ENST00000257430.4_Nonsense_Mutation_p.L1522*			P25054	APC_HUMAN	adenomatous polyposis coli	1522	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1454fs*3(1)|p.D1519fs*2(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATGTGGAATTAAGAATAATG	0.398		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)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		4	Deletion - Frameshift(2)|Unknown(1)|Complex - frameshift(1)	p.K1454fs*3(1)|p.D1519fs*2(1)|p.K1192fs*3(1)|p.?(1)	thyroid(1)|large_intestine(1)|soft_tissue(1)|skin(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						c.(4564-4566)tTa>tGa		adenomatous polyposis coli							76	78	78					5																	112175856		2202	4300	6502	SO:0001587	stop_gained	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	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	g.chr5:112175856T>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4565T>G	5.37:g.112175856T>G	ENSP00000413133:p.Leu1522*	TSP Lung(16;0.13)				APC_ENST00000257430.4_Nonsense_Mutation_p.L1522*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.L1522*	p.L1522*			P25054	APC_HUMAN		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)	16	4945	+		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)	1522			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.4565T>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	42	9.794623	0.99266	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.16	6.16	0.99307	.	0.081240	0.49916	D	0.000123	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.2285	16.8061	0.85666	0.0:0.0:0.0:1.0	.	.	.	.	X	1522	.	.	L	+	2	0	APC	112203755	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	TTA		0.398	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		30	34	0	0	0	1	0	30	34					G	112175856	T	G	112175856	4	3	443	1	0	0	0	0	0	1	0	0	763	1764	61	5	4623	5	APC	5	112175856	Nonsense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	33924623	112175856	68739404	47	30487											
NRG2	9542	broad.mit.edu	37	chr5	139232605	139232605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggttgtgcatctgcttccGctgttttctgcacaagggaa	6	14	12	9	1	2	0	0	0	2	0	3	1	3	1	1	2	3	6	1	2	2	4			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:139232605G>A	ENST00000361474.1	-	7	1524	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	NRG2_ENST00000545385.1_Missense_Mutation_p.R436W|NRG2_ENST00000289409.4_Missense_Mutation_p.R428W|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000358522.3_Missense_Mutation_p.R436W|NRG2_ENST00000541337.1_Missense_Mutation_p.R368W|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000289422.7_Missense_Mutation_p.R442W|NRG2_ENST00000340391.3_Missense_Mutation_p.R231W	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	434					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTGCTTCCGCTGTTTTCTG	0.597																																						ENST00000541337.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1102-1104)Cgg>Tgg		neuregulin 2							102	99	100					5																	139232605		2203	4300	6503	SO:0001583	missense	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139232605G>A		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1300C>T	5.37:g.139232605G>A	ENSP00000354910:p.Arg434Trp					NRG2_ENST00000289409.4_Missense_Mutation_p.R428W|NRG2_ENST00000394770.1_3'UTR|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000340391.3_Missense_Mutation_p.R231W|NRG2_ENST00000545385.1_Missense_Mutation_p.R436W|NRG2_ENST00000358522.3_Missense_Mutation_p.R436W|NRG2_ENST00000361474.1_Missense_Mutation_p.R434W|NRG2_ENST00000289422.7_Missense_Mutation_p.R442W	p.R368W	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1331	-			434			EGF-like.			Missense_Mutation	SNP	ENST00000361474.1	37	c.1102C>T	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704121	0.68615	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000340391;ENST00000289409;ENST00000358522	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;1.44;-0.04	5.19	1.91	0.25777	Neuregulin 1-related, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76456	0.3990	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.78666	-0.2115	10	0.87932	D	0	-25.9242	12.9288	0.58275	0.0:0.0:0.4609:0.5391	.	428;434;436;442	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	W	368;442;434;442;436;231;428;436	ENSP00000444235:R368W;ENSP00000289422:R442W;ENSP00000354910:R434W;ENSP00000438753:R436W;ENSP00000342660:R231W;ENSP00000289409:R428W;ENSP00000351323:R436W	ENSP00000289409:R428W	R	-	1	2	NRG2	139212789	0.989000	0.36119	0.998000	0.56505	0.979000	0.70002	1.749000	0.38319	0.526000	0.28541	-0.470000	0.05040	CGG		0.597	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		64	3	0	0	0	1	0	64	3					A	139232605	G	A	139232605	3	1	443	1	0	0	0	0	1	0	0	0	10648	1086	38	1	1268	1	NRG2	5	139232605	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	27056749	139232605	41682655	48	30488											
PCDHB11	56125	broad.mit.edu	37	chr5	140579581	140579581	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagcgtttgcagctggaCataaacactggggatttgct	12	10	11	8	1	0	0	0	0	0	0	0	2	0	2	0	3	6	4	0	3	3	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:140579581C>G	ENST00000354757.3	+	1	234	c.234C>G	c.(232-234)gaC>gaG	p.D78E	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	78	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGCTGGACATAAACACTG	0.512																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(232-234)gaC>gaG									108	119	115					5																	140579581		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140579581C>G	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.234C>G	5.37:g.140579581C>G	ENSP00000346802:p.Asp78Glu					PCDHB11_ENST00000536699.1_Intron	p.D78E	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	234	+			78			Cadherin 1.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.234C>G	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802591	0.31869	.	.	ENSG00000197479	ENST00000354757	T	0.44881	0.91	2.8	-0.409	0.12378	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34687	0.0906	L	0.56280	1.765	0.27524	N	0.9513	B	0.21147	0.052	B	0.26693	0.072	T	0.37197	-0.9716	9	0.54805	T	0.06	.	4.5867	0.12285	0.0:0.251:0.3294:0.4196	.	78	Q9Y5F2	PCDBB_HUMAN	E	78	ENSP00000346802:D78E	ENSP00000346802:D78E	D	+	3	2	PCDHB11	140559765	0.000000	0.05858	0.014000	0.15608	0.305000	0.27757	-6.119000	0.00080	-0.256000	0.09473	0.467000	0.42956	GAC		0.512	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		38	33	0	0	0	1	0	38	33					G	140579581	C	G	140579581	3	3	443	1	0	0	0	0	1	0	0	0	11536	477	17	5	236	5	PCDHB11	5	140579581	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	1346976	140579581	40335679	49	30489											
SOX30	11063	broad.mit.edu	37	chr5	157078950	157078950	+	Frame_Shift_Del	DEL	G	G	-																															aggccaaggtcgcactggctGccgcgctcagtgtgggagac																										TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:157078950delG	ENST00000265007.6	-	1	478	c.137delC	c.(136-138)gcafs	p.A47fs	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Frame_Shift_Del_p.A47fs	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	47					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	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)			CGCACTGGCTGCCGCGCTCAG	0.721																																					Esophageal Squamous(31;525 799 19355 21125 41744)	ENST00000265007.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(136-138)gafs		SRY (sex determining region Y)-box 30							4	6	5					5																	157078950		2062	4146	6208	SO:0001589	frameshift_variant	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157078950delG	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.137delC	5.37:g.157078950delG	ENSP00000265007:p.Ala47fs					SOX30_ENST00000311371.5_Frame_Shift_Del_p.A47fs|SOX30_ENST00000519442.1_Intron	p.A47fs	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	478	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	47					O94995|Q8IYX6	Frame_Shift_Del	DEL	ENST00000265007.6	37	c.137delC	CCDS4339.1																																																																																				0.721	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		2	4						2	4	---	---	---	---	-	157078950	G	-	157078950	7	5	443	1	0	1	0	1	0	0	0	0	14952	1319	46	0	2144	0	SOX30	5	157078950	Frame_Shift_Del	DEL	G	TCGA-XQ-A8TA-01A-11D-A364-08	16499369	157078950	23836310	50	30490											
SLIT3	6586	broad.mit.edu	37	chr5	168175430	168175430	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagctggcagctactcTcctcgttgcctgtggagagc	5	10	13	13	1	2	1	1	0	1	1	4	2	2	1	2	3	5	5	2	3	1	2	rs34681650		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:168175430T>A	ENST00000519560.1	-	20	2566	c.2147A>T	c.(2146-2148)gAg>gTg	p.E716V	SLIT3_ENST00000332966.8_Missense_Mutation_p.E716V|SLIT3_ENST00000404867.3_Missense_Mutation_p.E716V	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	716	LRRNT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			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)			GCAGCTACTCTCCTCGTTGCC	0.642																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				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						c.(2146-2148)gAg>gTg		slit homolog 3 (Drosophila)							36	36	36					5																	168175430		2203	4300	6503	SO:0001583	missense	6586				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	g.chr5:168175430T>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2147A>T	5.37:g.168175430T>A	ENSP00000430333:p.Glu716Val					SLIT3_ENST00000404867.3_Missense_Mutation_p.E716V|SLIT3_ENST00000332966.8_Missense_Mutation_p.E716V	p.E716V	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		20	2566	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	716			LRRNT 4.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.2147A>T	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	t	18.64	3.667951	0.67814	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.76839	-1.05;-1.04;-1.04	5.3	5.3	0.74995	.	0.156184	0.56097	D	0.000024	T	0.79592	0.4472	M	0.73598	2.24	0.58432	D	0.999999	B	0.30439	0.279	B	0.34242	0.178	T	0.80439	-0.1382	10	0.66056	D	0.02	.	15.2939	0.73888	0.0:0.0:0.0:1.0	.	716	O75094	SLIT3_HUMAN	V	716	ENSP00000430333:E716V;ENSP00000332164:E716V;ENSP00000384890:E716V	ENSP00000332164:E716V	E	-	2	0	SLIT3	168108008	1.000000	0.71417	0.995000	0.50966	0.906000	0.53458	7.695000	0.84257	2.010000	0.58986	0.449000	0.29647	GAG		0.642	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		9	39	0	0	0	1	0	9	39					A	168175430	T	A	168175430	3	1	443	1	0	0	0	0	1	0	0	0	14741	1551	54	5	2492	5	SLIT3	5	168175430	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	11096480	168175430	12739830	51	30491											
KIAA0319	9856	broad.mit.edu	37	chr6	24601303	24601303	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcaccagcagcagcaatGaagagagcacacctgtgggg	12	6	13	10	0	1	2	1	1	0	1	1	3	1	2	2	2	4	4	2	2	2	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr6:24601303G>T	ENST00000378214.3	-	2	553	c.29C>A	c.(28-30)tCa>tAa	p.S10*	KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.S10*|KIAA0319_ENST00000535378.1_5'UTR|KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.S10*|KIAA0319_ENST00000430948.2_Intron	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	10					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CAGCAGCAATGAAGAGAGCAC	0.532																																						ENST00000378214.3																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(28-30)tCa>tAa		KIAA0319							111	110	110					6																	24601303		2203	4300	6503	SO:0001587	stop_gained	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24601303G>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.29C>A	6.37:g.24601303G>T	ENSP00000367459:p.Ser10*					KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.S10*|KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.S10*|KIAA0319_ENST00000535378.1_5'UTR	p.S10*	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN			2	553	-			10					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Nonsense_Mutation	SNP	ENST00000378214.3	37	c.29C>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	33	5.217295	0.95104	.	.	ENSG00000137261	ENST00000537886;ENST00000378214;ENST00000543707	.	.	.	4.33	1.52	0.23074	.	2.240490	0.02674	N	0.108889	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0027	6.3829	0.21544	0.323:0.0:0.677:0.0	.	.	.	.	X	10	.	ENSP00000367459:S10X	S	-	2	0	KIAA0319	24709282	0.006000	0.16342	0.002000	0.10522	0.462000	0.32619	1.187000	0.32090	0.460000	0.27045	0.563000	0.77884	TCA		0.532	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		5	88	1	0	0.248553	1	0.25178	5	88					T	24601303	G	T	24601303	4	4	443	1	0	0	0	0	0	1	0	0	8168	1294	45	5	3301	5	KIAA0319	6	24601303	Nonsense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08		24601303	146513764	52	30492											
RNF8	9025	broad.mit.edu	37	chr6	37336452	37336453	+	Frame_Shift_Ins	INS	-	-	A																															aaagaatgaccaaatgatagINSaaaaaaataaggaattgaga																										TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr6:37336452_37336453insA	ENST00000373479.4	+	3	626_627	c.433_434insA	c.(433-435)gaafs	p.E145fs	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Frame_Shift_Ins_p.E145fs	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	145					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CCAAATGATAGAAAAAAATAAG	0.351																																						ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(433-435)aaafs		ring finger protein 8, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	9025				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	g.chr6:37336452_37336453insA	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"RING-type (C3HC4) zinc fingers"	10071	protein-coding gene	gene with protein product		611685	"ring finger protein (C3HC4 type) 8", "ring finger protein 8"			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.440dupA	6.37:g.37336459_37336459dupA	ENSP00000362578:p.Glu145fs					RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Frame_Shift_Ins_p.K145fs	p.K145fs	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN			3	626_627	+			145					A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Frame_Shift_Ins	INS	ENST00000373479.4	37	c.433_434insA	CCDS4834.1																																																																																				0.351	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			25	26						25	26	---	---	---	---	A	37336453	-	A	37336452	7	5	443	1	0	1	1	0	0	0	0	0	13500	943	33	0	443	0	RNF8	6	37336452	Frame_Shift_Ins	INS	-	TCGA-XQ-A8TA-01A-11D-A364-08	12735149	37336452	133778615	53	30493											
TNFRSF21	27242	broad.mit.edu	37	chr6	47251781	47251781	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggatcctgccggggccccTttttcagagtcctcgagctt	4	12	12	13	2	1	1	1	0	0	1	4	3	3	2	5	3	2	1	5	3	0	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr6:47251781T>A	ENST00000296861.2	-	3	1529	c.1136A>T	c.(1135-1137)aAg>aTg	p.K379M		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	379					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCGGGGCCCCTTTTTCAGAGT	0.512																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(1135-1137)aAg>aTg		tumor necrosis factor receptor superfamily, member 21							98	104	102					6																	47251781		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47251781T>A	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1136A>T	6.37:g.47251781T>A	ENSP00000296861:p.Lys379Met						p.K379M	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		3	1529	-			379					B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.1136A>T	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.673556	0.88445	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.72615	-0.67	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79753	0.4500	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82068	-0.0640	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	379	O75509	TNR21_HUMAN	M	379;68	ENSP00000296861:K379M	ENSP00000296861:K379M	K	-	2	0	TNFRSF21	47359740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.708000	0.68377	2.371000	0.80710	0.533000	0.62120	AAG		0.512	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		48	52	0	0	0	1	0	48	52					A	47251781	T	A	47251781	3	1	443	1	0	0	0	0	1	0	0	0	16292	1609	56	5	847	5	TNFRSF21	6	47251781	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	9915329	47251781	123863286	54	30494											
BAI3	577	broad.mit.edu	37	chr6	69349172	69349172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcacctgccctcagcattTgggagagtgggggatcgacg	8	8	15	10	2	1	1	1	0	0	1	2	4	1	2	2	3	3	2	2	3	0	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr6:69349172T>C	ENST00000370598.1	+	3	1426	c.605T>C	c.(604-606)tTg>tCg	p.L202S		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	202					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCTCAGCATTTGGGAGAGTGG	0.473																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(604-606)tTg>tCg		brain-specific angiogenesis inhibitor 3							65	64	64					6																	69349172		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69349172T>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.605T>C	6.37:g.69349172T>C	ENSP00000359630:p.Leu202Ser						p.L202S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			3	1426	+		all_lung(197;0.212)	202					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.605T>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.208866	0.79240	.	.	ENSG00000135298	ENST00000370598	T	0.20598	2.06	5.12	5.12	0.69794	.	0.000000	0.53938	D	0.000048	T	0.21427	0.0516	L	0.36672	1.1	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	T	0.03750	-1.1007	10	0.15066	T	0.55	.	15.2194	0.73299	0.0:0.0:0.0:1.0	.	202	O60242	BAI3_HUMAN	S	202	ENSP00000359630:L202S	ENSP00000359630:L202S	L	+	2	0	BAI3	69405893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.064000	0.61679	0.533000	0.62120	TTG		0.473	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			25	38	0	0	0	1	0	25	38					C	69349172	T	C	69349172	3	2	443	1	0	0	0	0	1	0	0	0	1300	1821	63	4	607	4	BAI3	6	69349172	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	22097391	69349172	101765895	55	30495											
MAP7	9053	broad.mit.edu	37	chr6	136693640	136693640	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcccaacagctactcaccGctgtgccatgaatgatcctc	9	9	7	16	1	1	2	1	2	0	0	4	2	3	2	4	0	4	3	4	0	3	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr6:136693640G>A	ENST00000354570.3	-	8	1285	c.875C>T	c.(874-876)gCg>gTg	p.A292V	MAP7_ENST00000454590.1_Splice_Site_p.A314V|MAP7_ENST00000438100.2_Splice_Site_p.A277V|MAP7_ENST00000544465.1_Splice_Site_p.A277V|MAP7_ENST00000432797.2_Splice_Site_p.A146V	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	292					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GCTACTCACCGCTGTGCCATG	0.547																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.e8+1		microtubule-associated protein 7							132	113	119					6																	136693640		2203	4300	6503	SO:0001630	splice_region_variant	9053				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	g.chr6:136693640G>A	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.876+1C>T	6.37:g.136693640G>A						MAP7_ENST00000432797.2_Splice_Site_p.A146_splice|MAP7_ENST00000454590.1_Splice_Site_p.A314_splice|MAP7_ENST00000544465.1_Splice_Site_p.A277_splice|MAP7_ENST00000438100.2_Splice_Site_p.A277_splice	p.A292_splice	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	8	1285	-	Colorectal(23;0.24)		292					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Splice_Site	SNP	ENST00000354570.3	37	c.876_splice	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940228	0.34283	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96	5.81	-0.992	0.10232	.	1.391920	0.04618	N	0.401488	T	0.01870	0.0059	N	0.16201	0.385	0.09310	N	0.999999	B;B;B;B;B;B;B;B	0.15473	0.004;0.004;0.008;0.004;0.001;0.013;0.008;0.004	B;B;B;B;B;B;B;B	0.09377	0.001;0.001;0.003;0.001;0.001;0.004;0.004;0.002	T	0.46345	-0.9198	10	0.33940	T	0.23	-0.0059	7.2644	0.26222	0.5278:0.2098:0.2624:0.0	.	277;314;277;314;314;198;255;292	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;.;MAP7_HUMAN	V	292;314;277;277;146;198	ENSP00000346581:A292V;ENSP00000414712:A314V;ENSP00000445737:A277V;ENSP00000400790:A277V;ENSP00000414879:A146V	ENSP00000344217:A198V	A	-	2	0	MAP7	136735333	0.004000	0.15560	0.007000	0.13788	0.968000	0.65278	0.148000	0.16224	-0.087000	0.12528	0.591000	0.81541	GCG		0.547	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980	Missense_Mutation	23	9	0	0	0	1	0	23	9					A	136693640	G	A	136693640	5	1	443	1	0	0	0	0	0	0	1	0	9266	1101	38	1	1418	1	MAP7	6	136693640	Splice_Site	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	67344468	136693640	34421427	56	30496											
HECW1	23072	broad.mit.edu	37	chr7	43495935	43495935	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagccacgggcgggtcttttAtgtggaccacgtgaaccgca	8	8	13	12	4	1	1	0	1	1	0	1	2	1	2	3	3	2	1	3	3	2	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:43495935A>T	ENST00000395891.2	+	13	3145	c.2540A>T	c.(2539-2541)tAt>tTt	p.Y847F	HECW1_ENST00000453890.1_Missense_Mutation_p.Y813F	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	847	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			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						CGGGTCTTTTATGTGGACCAC	0.537																																						ENST00000395891.1																			0				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						c.(2539-2541)tAt>tTt		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							80	77	78					7																	43495935		1924	4134	6058	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43495935A>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2540A>T	7.37:g.43495935A>T	ENSP00000379228:p.Tyr847Phe					HECW1_ENST00000453890.1_Missense_Mutation_p.Y813F	p.Y847F	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			13	3145	+			847			WW 1.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.2540A>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	32	5.129901	0.94473	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.94897	-3.55;-3.55	6.06	6.06	0.98353	WW/Rsp5/WWP (6);	0.071453	0.64402	D	0.000001	D	0.95456	0.8524	L	0.35593	1.075	0.80722	D	1	D;P	0.76494	0.999;0.924	D;P	0.83275	0.996;0.874	D	0.95609	0.8670	10	0.49607	T	0.09	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	813;847	B4DH42;Q76N89	.;HECW1_HUMAN	F	847;813;847	ENSP00000379228:Y847F;ENSP00000407774:Y813F	ENSP00000265522:Y847F	Y	+	2	0	HECW1	43462460	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.324000	0.78689	0.533000	0.62120	TAT		0.537	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		26	30	0	0	0	1	0	26	30					T	43495935	A	T	43495935	3	4	443	1	0	0	0	0	1	0	0	0	7042	449	16	5	2582	5	HECW1	7	43495935	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08		43495935	115642728	57	30497											
TSC22D4	81628	broad.mit.edu	37	chr7	100075364	100075364	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgaagctgtggggctccaGgtctcgctcataaacatcca	9	8	11	13	2	2	0	1	0	1	0	5	1	4	0	3	3	2	3	3	3	3	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:100075364G>C	ENST00000300181.2	-	2	1052	c.298C>G	c.(298-300)Ctg>Gtg	p.L100V	TSC22D4_ENST00000496728.1_5'Flank|TSC22D4_ENST00000393991.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	100					negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGGGCTCCAGGTCTCGCTCA	0.662																																						ENST00000300181.2																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(298-300)Ctg>Gtg		TSC22 domain family, member 4							13	15	14					7																	100075364		2169	4219	6388	SO:0001583	missense	81628				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:100075364G>C	BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.298C>G	7.37:g.100075364G>C	ENSP00000300181:p.Leu100Val					TSC22D4_ENST00000393991.1_Intron	p.L100V	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN			2	1052	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		100					A4D2C3|A8MWR6|D6W5V9	Missense_Mutation	SNP	ENST00000300181.2	37	c.298C>G	CCDS5695.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477384	0.63849	.	.	ENSG00000166925	ENST00000300181	.	.	.	5.39	3.56	0.40772	.	0.210120	0.23866	N	0.043785	T	0.52468	0.1736	L	0.28274	0.84	0.80722	D	1	B;D	0.58620	0.22;0.983	B;D	0.63381	0.111;0.914	T	0.46911	-0.9157	8	.	.	.	-10.8244	8.7232	0.34454	0.182:0.0:0.818:0.0	.	100;100	Q8IV54;Q9Y3Q8	.;T22D4_HUMAN	V	100	.	.	L	-	1	2	TSC22D4	99913300	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.654000	0.24918	1.280000	0.44463	0.449000	0.29647	CTG		0.662	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316970.1	NM_030935		4	4	0	0	0	1	0	4	4					C	100075364	G	C	100075364	3	2	443	1	0	0	0	0	1	0	0	0	16607	991	35	5	905	5	TSC22D4	7	100075364	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	56579429	100075364	59063299	58	30498											
MUC17	140453	broad.mit.edu	37	chr7	100679631	100679631	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccacgccggtggccaGtcctgaggctagcacccttt	7	7	11	16	2	0	1	0	1	0	0	1	1	1	1	5	3	2	3	5	3	1	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:100679631G>C	ENST00000306151.4	+	3	4998	c.4934G>C	c.(4933-4935)aGt>aCt	p.S1645T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1645	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCGGTGGCCAGTCCTGAGGCT	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4933-4935)aGt>aCt		mucin 17, cell surface associated							236	246	243					7																	100679631		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679631G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4934G>C	7.37:g.100679631G>C	ENSP00000302716:p.Ser1645Thr						p.S1645T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4998	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1645			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4934G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.447	-0.895772	0.02472	.	.	ENSG00000169876	ENST00000306151	T	0.02216	4.39	0.932	-1.86	0.07760	.	.	.	.	.	T	0.00815	0.0027	N	0.01576	-0.805	0.09310	N	1	B	0.17038	0.02	B	0.13407	0.009	T	0.46247	-0.9205	9	0.07644	T	0.81	.	6.4998	0.22162	0.0:0.4172:0.5828:0.0	.	1645	Q685J3	MUC17_HUMAN	T	1645	ENSP00000302716:S1645T	ENSP00000302716:S1645T	S	+	2	0	MUC17	100466351	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.769000	0.01792	-0.958000	0.03622	0.134000	0.15878	AGT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		116	102	0	0	0	1	0	116	102					C	100679631	G	C	100679631	3	2	443	1	0	0	0	0	1	0	0	0	9974	1029	36	5	4944	5	MUC17	7	100679631	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	604267	100679631	58459032	59	30499											
MET	4233	broad.mit.edu	37	chr7	116409761	116409761	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagttggaaataagagctgTgagaatatacacttacattc	17	11	8	5	0	0	2	0	1	0	2	1	4	0	3	0	1	3	2	0	1	7	6			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:116409761T>G	ENST00000318493.6	+	12	2887	c.2700T>G	c.(2698-2700)tgT>tgG	p.C900W	MET_ENST00000397752.3_Missense_Mutation_p.C882W			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			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)			ATAAGAGCTGTGAGAATATAC	0.378			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				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						c.(2644-2646)tgT>tgG		met proto-oncogene							117	114	115					7																	116409761		1824	4093	5917	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116409761T>G	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2700T>G	7.37:g.116409761T>G	ENSP00000317272:p.Cys900Trp					MET_ENST00000318493.6_Missense_Mutation_p.C900W	p.C882W	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		12	2846	+	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)	882					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.2646T>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	18.07	3.540571	0.65085	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000422097;ENST00000454623	D;D	0.85258	-1.76;-1.96	5.59	1.86	0.25419	Cell surface receptor IPT/TIG (1);	0.000000	0.85682	D	0.000000	D	0.90776	0.7104	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.89664	0.3879	10	0.87932	D	0	.	9.3407	0.38079	0.0:0.2071:0.0:0.7929	.	900;882	P08581-2;P08581	.;MET_HUMAN	W	882;900;162;14	ENSP00000380860:C882W;ENSP00000317272:C900W	ENSP00000317272:C900W	C	+	3	2	MET	116196997	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.917000	0.28665	0.463000	0.27118	0.460000	0.39030	TGT		0.378	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			29	20	0	0	0	1	0	29	20					G	116409761	T	G	116409761	3	3	443	1	0	0	0	0	1	0	0	0	9485	1702	59	5	2742	5	MET	7	116409761	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	15730130	116409761	42728902	60	30500											
AASS	10157	broad.mit.edu	37	chr7	121753718	121753718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctattgttgtacactcaGtcataaactctatagaccct	11	14	5	11	0	4	1	2	0	2	1	4	1	4	1	1	0	2	3	1	0	6	7			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:121753718G>T	ENST00000393376.1	-	9	1195	c.1100C>A	c.(1099-1101)aCt>aAt	p.T367N	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.T367N			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	367	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TGTACACTCAGTCATAAACTC	0.378																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(1099-1101)aCt>aAt		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)						144	122	129					7																	121753718		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121753718G>T	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1100C>A	7.37:g.121753718G>T	ENSP00000377040:p.Thr367Asn					AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.T367N	p.T367N			Q9UDR5	AASS_HUMAN			9	1195	-			367			Lysine-ketoglutarate reductase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.1100C>A	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	G	7.867	0.727352	0.15439	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	D;D	0.81579	-1.51;-1.51	4.92	4.92	0.64577	Alanine dehydrogenase/PNT, C-terminal (1);	0.242242	0.47455	D	0.000231	T	0.66086	0.2754	N	0.13098	0.295	0.58432	D	0.999993	B	0.14012	0.009	B	0.14023	0.01	T	0.61821	-0.6984	10	0.07325	T	0.83	-15.5091	18.6547	0.91448	0.0:0.0:1.0:0.0	.	367	Q9UDR5	AASS_HUMAN	N	367	ENSP00000377040:T367N;ENSP00000403768:T367N	ENSP00000351834:T367N	T	-	2	0	AASS	121540954	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	6.095000	0.71439	2.714000	0.92807	0.655000	0.94253	ACT		0.378	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		5	29	1	0	0.184627	1	0.188247	5	29					T	121753718	G	T	121753718	3	4	443	1	0	0	0	0	1	0	0	0	24	1029	36	5	1740	5	AASS	7	121753718	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	5343957	121753718	37384945	61	30501											
FAM71F2	346653	broad.mit.edu	37	chr7	128312528	128312528	+	Missense_Mutation	SNP	T	T	G																															acttggggtggaaaatggccTtctttgtcaactgattcatt																										TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:128312528T>G	ENST00000480462.1	+	1	183	c.77T>G	c.(76-78)cTt>cGt	p.L26R	FAM71F2_ENST00000378704.3_Missense_Mutation_p.L26R|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Missense_Mutation_p.L26R			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	26										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GAAAATGGCCTTCTTTGTCAA	0.498											OREG0018296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000480462.1																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(76-78)cTt>cGt		family with sequence similarity 71, member F2							36	37	37					7																	128312528		1940	4171	6111	SO:0001583	missense	346653							g.chr7:128312528T>G	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"family with sequence similarity 137, member B"	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.77T>G	7.37:g.128312528T>G	ENSP00000420140:p.Leu26Arg		OREG0018296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	FAM71F2_ENST00000477515.1_Missense_Mutation_p.L26R|FAM71F2_ENST00000378704.3_Missense_Mutation_p.L26R|FAM71F2_ENST00000460349.1_3'UTR	p.L26R			Q6NXP2	F71F2_HUMAN			1	183	+			26					Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	c.77T>G	CCDS47701.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.463302	0.43736	.	.	ENSG00000205085	ENST00000474069;ENST00000480462;ENST00000378704;ENST00000434001;ENST00000477515	T;T;T;T;T	0.37752	3.21;3.18;3.21;3.21;1.18	4.86	3.71	0.42584	.	0.000000	0.43747	D	0.000526	T	0.48370	0.1496	M	0.74881	2.28	0.34689	D	0.725539	D;D	0.58268	0.981;0.982	D;P	0.63283	0.913;0.82	T	0.58165	-0.7684	10	0.09338	T	0.73	-15.1473	7.3139	0.26489	0.0:0.0987:0.0:0.9013	.	26;26	Q6NXP2-2;Q6NXP2	.;F71F2_HUMAN	R	26	ENSP00000418907:L26R;ENSP00000420140:L26R;ENSP00000367976:L26R;ENSP00000401654:L26R;ENSP00000419649:L26R	ENSP00000367976:L26R	L	+	2	0	FAM71F2	128099764	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.846000	0.55888	0.984000	0.38629	-0.250000	0.11733	CTT		0.498	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			5	6	0	0	0	1	0	5	6					G	128312528	T	G	128312528	3	3	443	1	0	0	0	0	1	0	0	0	5613	1609	56	5	79	5	FAM71F2	7	128312528	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	6558810	128312528	30826135	62	30502	145	2									
FAM71F2	346653	broad.mit.edu	37	chr7	128312529	128312529	+	Silent	SNP	T	T	C																															cttggggtggaaaatggcctTctttgtcaactgattcattc																										TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:128312529T>C	ENST00000480462.1	+	1	184	c.78T>C	c.(76-78)ctT>ctC	p.L26L	FAM71F2_ENST00000378704.3_Silent_p.L26L|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Silent_p.L26L			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	26										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						AAAATGGCCTTCTTTGTCAAC	0.498											OREG0018296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000480462.1																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(76-78)ctT>ctC		family with sequence similarity 71, member F2							35	37	36					7																	128312529		1943	4172	6115	SO:0001819	synonymous_variant	346653							g.chr7:128312529T>C	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"family with sequence similarity 137, member B"	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.78T>C	7.37:g.128312529T>C			OREG0018296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	FAM71F2_ENST00000477515.1_Silent_p.L26L|FAM71F2_ENST00000378704.3_Silent_p.L26L|FAM71F2_ENST00000460349.1_3'UTR	p.L26L			Q6NXP2	F71F2_HUMAN			1	184	+			26					Q0VGF6|Q0VGF7|Q86X39	Silent	SNP	ENST00000480462.1	37	c.78T>C	CCDS47701.1																																																																																				0.498	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			5	7	0	0	0	1	0	5	7					C	128312529	T	C	128312529	2	2	443	1	0	0	0	0	0	0	0	1	5613	1770	62	4		4	FAM71F2	7	128312529	Silent	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	1	128312529	30826134	63	30503	145	2									
DGKI	9162	broad.mit.edu	37	chr7	137308251	137308251	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcttgcaccaggaacagCtgatagccacaatctcttta	11	10	7	13	0	1	1	0	1	1	0	2	2	1	2	3	1	5	3	3	1	4	4			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:137308251C>A	ENST00000288490.5	-	7	854	c.854G>T	c.(853-855)aGc>aTc	p.S285I	DGKI_ENST00000424189.2_Missense_Mutation_p.S285I|DGKI_ENST00000446122.1_Missense_Mutation_p.S285I|DGKI_ENST00000453654.2_5'UTR	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	285					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCAGGAACAGCTGATAGCCAC	0.423																																						ENST00000424189.2																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(853-855)aGc>aTc		diacylglycerol kinase, iota							197	186	190					7																	137308251		2203	4300	6503	SO:0001583	missense	9162				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	g.chr7:137308251C>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.854G>T	7.37:g.137308251C>A	ENSP00000288490:p.Ser285Ile					DGKI_ENST00000446122.1_Missense_Mutation_p.S285I|DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.S285I	p.S285I			O75912	DGKI_HUMAN			7	1083	-			285					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.854G>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	32	5.185414	0.94885	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	D;D	0.93189	-3.18;-3.18	5.76	5.76	0.90799	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96722	0.9533	10	0.66056	D	0.02	.	19.9596	0.97236	0.0:1.0:0.0:0.0	.	285	O75912	DGKI_HUMAN	I	233;285;285;285	ENSP00000288490:S285I;ENSP00000399131:S285I	ENSP00000288490:S285I	S	-	2	0	DGKI	136958791	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	AGC		0.423	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		73	99	1	0	2.14232e-31	1	2.59072e-31	73	99					A	137308251	C	A	137308251	3	1	443	1	0	0	0	0	1	0	0	0	4471	797	28	5	2455	5	DGKI	7	137308251	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	8995722	137308251	21830412	64	30504											
MGAM	8972	broad.mit.edu	37	chr7	141762491	141762491	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggagcttgaagtttgatGgcatgtggattgtaagtgtg	10	13	16	2	0	0	3	0	2	0	1	0	5	0	5	0	3	1	4	0	3	2	4			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:141762491G>T	ENST00000549489.2	+	35	4341	c.4246G>T	c.(4246-4248)Ggc>Tgc	p.G1416C	MGAM_ENST00000475668.2_Missense_Mutation_p.G1416C	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1416	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAAGTTTGATGGCATGTGGAT	0.433																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(4246-4248)Ggc>Tgc		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						70	69	69					7																	141762491		1931	4144	6075	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141762491G>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4246G>T	7.37:g.141762491G>T	ENSP00000447378:p.Gly1416Cys					MGAM_ENST00000549489.2_Missense_Mutation_p.G1416C	p.G1416C			O43451	MGA_HUMAN			35	4300	+	Melanoma(164;0.0272)		1416			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.4246G>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668336	0.67814	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.96200	-3.94	4.04	4.04	0.47022	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.98807	0.9598	H	0.99516	4.605	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.99164	1.0862	9	0.87932	D	0	.	15.0261	0.71671	0.0:0.0:1.0:0.0	.	1416	O43451	MGA_HUMAN	C	1416;1416;1293	ENSP00000447378:G1416C	ENSP00000316431:G1293C	G	+	1	0	MGAM	141408960	1.000000	0.71417	0.999000	0.59377	0.727000	0.41649	9.673000	0.98631	1.794000	0.52575	0.306000	0.20318	GGC		0.433	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			10	24	1	0	0.000978159	1	0.00101729	10	24					T	141762491	G	T	141762491	3	4	443	1	0	0	0	0	1	0	0	0	9541	1348	47	5	4380	5	MGAM	7	141762491	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	4454240	141762491	17376172	65	30505											
TRPV6	55503	broad.mit.edu	37	chr7	142583149	142583149	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctcttctgctgcagcAggttctgctcatctcggctc	4	14	8	15	1	5	0	1	0	4	0	7	0	5	0	1	2	5	6	1	2	1	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:142583149A>C	ENST00000359396.3	-	1	358	c.113T>G	c.(112-114)cTg>cGg	p.L38R	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	38					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGCTGCAGCAGGTTCTGCTC	0.607																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(112-114)cTg>cGg		transient receptor potential cation channel, subfamily V, member 6							109	110	110					7																	142583149		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142583149A>C	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.113T>G	7.37:g.142583149A>C	ENSP00000352358:p.Leu38Arg					RP11-114L10.2_ENST00000438839.1_RNA	p.L38R	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			1	358	-	Melanoma(164;0.059)		38					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.113T>G	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	A	12.67	2.007777	0.35415	.	.	ENSG00000165125	ENST00000359396	T	0.56444	0.46	3.69	3.69	0.42338	.	0.423271	0.21368	N	0.075688	T	0.57431	0.2053	L	0.55481	1.735	0.42626	D	0.99336	D	0.53462	0.96	P	0.55871	0.786	T	0.55418	-0.8144	10	0.34782	T	0.22	-10.6897	8.9646	0.35867	1.0:0.0:0.0:0.0	.	38	Q9H1D0	TRPV6_HUMAN	R	38	ENSP00000352358:L38R	ENSP00000352358:L38R	L	-	2	0	TRPV6	142293271	1.000000	0.71417	0.990000	0.47175	0.074000	0.17049	4.225000	0.58600	1.697000	0.51169	0.317000	0.21355	CTG		0.607	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		30	38	0	0	0	1	0	30	38					C	142583149	A	C	142583149	3	2	443	1	0	0	0	0	1	0	0	0	16597	188	7	5	2124	5	TRPV6	7	142583149	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	820658	142583149	16555514	66	30506											
ANK1	286	broad.mit.edu	37	chr8	41559078	41559078	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacgttaccttcatcttcCgagacatccaggatctcatc	10	11	5	15	2	3	1	2	0	2	1	7	3	5	2	4	1	2	1	4	1	2	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr8:41559078C>A	ENST00000347528.4	-	22	2534	c.2451G>T	c.(2449-2451)tcG>tcT	p.S817S	ANK1_ENST00000396945.1_Silent_p.S817S|ANK1_ENST00000289734.7_Silent_p.S817S|ANK1_ENST00000379758.2_Silent_p.S817S|ANK1_ENST00000396942.1_Silent_p.S817S|ANK1_ENST00000265709.8_Silent_p.S850S|ANK1_ENST00000352337.4_Silent_p.S817S	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	817	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			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)			CTTCATCTTCCGAGACATCCA	0.517											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396942.1																			0				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						c.(2449-2451)tcG>tcT		ankyrin 1, erythrocytic							117	106	110					8																	41559078		2203	4300	6503	SO:0001819	synonymous_variant	286				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	g.chr8:41559078C>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2451G>T	8.37:g.41559078C>A			OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	902	ANK1_ENST00000289734.7_Silent_p.S817S|ANK1_ENST00000347528.4_Silent_p.S817S|ANK1_ENST00000352337.4_Silent_p.S817S|ANK1_ENST00000396945.1_Silent_p.S817S|ANK1_ENST00000265709.8_Silent_p.S850S|ANK1_ENST00000379758.2_Silent_p.S817S	p.S817S			P16157	ANK1_HUMAN	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)		22	2534	-	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)	817			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.2451G>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280357	0.23392	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.97	-3.93	0.04143	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2854	0.21031	0.1424:0.4673:0.3027:0.0877	.	.	.	.	X	131	.	.	G	-	1	0	ANK1	41678235	0.004000	0.15560	0.975000	0.42487	0.883000	0.51084	-0.933000	0.03959	-0.675000	0.05246	-0.262000	0.10625	GGA		0.517	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		27	2	1	0	2.4375e-19	1	2.83768e-19	27	2					A	41559078	C	A	41559078	2	1	443	1	0	0	0	0	0	0	0	1	620	639	23	5		5	ANK1	8	41559078	Silent	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08		41559078	104804944	67	30507											
CSMD3	114788	broad.mit.edu	37	chr8	113960064	113960064	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttctggttctcctggaTctgggcataaattggaagct	8	15	10	8	0	3	0	0	0	3	0	4	2	3	2	1	4	1	3	1	4	3	5			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr8:113960064T>A	ENST00000297405.5	-	9	1707	c.1463A>T	c.(1462-1464)gAt>gTt	p.D488V	CSMD3_ENST00000343508.3_Missense_Mutation_p.D448V|CSMD3_ENST00000352409.3_Missense_Mutation_p.D488V|CSMD3_ENST00000455883.2_Missense_Mutation_p.D384V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	488	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						TTCTCCTGGATCTGGGCATAA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(1462-1464)gAt>gTt		CUB and Sushi multiple domains 3							91	92	92					8																	113960064		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113960064T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1463A>T	8.37:g.113960064T>A	ENSP00000297405:p.Asp488Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.D488V|CSMD3_ENST00000455883.2_Missense_Mutation_p.D384V|CSMD3_ENST00000343508.3_Missense_Mutation_p.D448V	p.D488V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			9	1707	-			488			Sushi 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1463A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234859	0.79800	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.1	5.1	0.69264	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.77267	0.4105	M	0.70842	2.15	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;1.0	T	0.76942	-0.2772	10	0.37606	T	0.19	.	15.1689	0.72854	0.0:0.0:0.0:1.0	.	384;488;448	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	448;488;384;488	ENSP00000345799:D448V;ENSP00000297405:D488V;ENSP00000412263:D384V;ENSP00000343124:D488V	ENSP00000297405:D488V	D	-	2	0	CSMD3	114029240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.324000	0.79115	2.052000	0.61016	0.454000	0.30748	GAT		0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		32	81	0	0	0	1	0	32	81					A	113960064	T	A	113960064	3	1	443	1	0	0	0	0	1	0	0	0	3946	1435	50	5	9912	5	CSMD3	8	113960064	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	72400986	113960064	32403958	68	30508											
WDR67	93594	broad.mit.edu	37	chr8	124140520	124140521	+	Splice_Site	INS	-	-	T																															aacaccaagttttcttacagINStttttttttcaccatcggaa																								rs570441854		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31							centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTTCTTACAGTTTTTTTTTCA	0.322																																						ENST00000287380.1																			0											c.e14-1		TBC1 domain family, member 31			,	6,4258		0,6,2126					,	5.7	1			76	8,8246		0,8,4119	no	frameshift-near-splice,frameshift-near-splice	WDR67	NM_145647.3,NM_001145088.1	,	0,14,6245	A1A1,A1R,RR		0.0969,0.1407,0.1118	,	,		14,12504				SO:0001630	splice_region_variant	93594							g.chr8:124140520_124140521insT	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1885-1->T	8.37:g.124140529_124140529dupT						TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site		NM_145647.3	NP_663622.2					14	1974_1975	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Splice_Site	INS	ENST00000287380.1	37		CCDS6338.1																																																																																				0.322	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	Intron	7	91						7	91	---	---	---	---	T	124140521	-	T	124140520	8	5	443	1	0	1	1	0	0	0	1	0	17315	1043	36	0	1938	0	WDR67	8	124140520	Splice_Site	INS	-	TCGA-XQ-A8TA-01A-11D-A364-08	10180456	124140520	22223502	69	30509											
KIAA0196	9897	broad.mit.edu	37	chr8	126049568	126049568	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggtaagcgctttgttgttAtgtatatctggaaagagaaa	13	13	12	3	1	1	1	0	0	1	1	1	3	1	2	0	2	1	5	0	2	6	6			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr8:126049568A>T	ENST00000318410.7	-	26	3441	c.3092T>A	c.(3091-3093)aTa>aAa	p.I1031K	KIAA0196_ENST00000517845.1_Missense_Mutation_p.I883K	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1031					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTTTGTTGTTATGTATATCTG	0.328																																						ENST00000318410.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(3091-3093)aTa>aAa		KIAA0196							107	113	111					8																	126049568		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126049568A>T		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.3092T>A	8.37:g.126049568A>T	ENSP00000318016:p.Ile1031Lys					KIAA0196_ENST00000517845.1_Missense_Mutation_p.I883K	p.I1031K	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		26	3441	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		1031					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.3092T>A	CCDS6355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.011072|4.011072	0.75046|0.75046	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.86694|.	-2.16;-2.16|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74635|.	0.3742|.	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D;D|.	0.62365|.	0.968;0.991|.	P;D|.	0.75484|.	0.789;0.986|.	T|.	0.74016|.	-0.3800|.	10|.	0.87932|.	D|.	0|.	-24.4094|-24.4094	16.5763|16.5763	0.84648|0.84648	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	883;1031|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	K|K	1031;883|648	ENSP00000318016:I1031K;ENSP00000429676:I883K|.	ENSP00000318016:I1031K|.	I|X	-|-	2|1	0|0	KIAA0196|KIAA0196	126118750|126118750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.785000|8.785000	0.91822|0.91822	2.317000|2.317000	0.78254|0.78254	0.459000|0.459000	0.35465|0.35465	ATA|TAA		0.328	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		64	125	0	0	0	1	0	64	125					T	126049568	A	T	126049568	3	4	443	1	0	0	0	0	1	0	0	0	8161	449	16	5	403	5	KIAA0196	8	126049568	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	1909048	126049568	20314454	70	30510											
WISP1	8840	broad.mit.edu	37	chr8	134233084	134233084	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgacacaggagccttcGgtgggtgtgggcccgagtgg	5	7	18	11	3	0	1	0	1	0	0	1	3	0	2	3	5	1	0	3	5	0	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr8:134233084G>T	ENST00000250160.6	+	3	716	c.610G>T	c.(610-612)Gat>Tat	p.D204Y	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000220856.6_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	204					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AGGAGCCTTCGGTGGGTGTGG	0.627																																						ENST00000250160.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.e3+1		WNT1 inducible signaling pathway protein 1							22	21	21					8																	134233084		2180	4262	6442	SO:0001630	splice_region_variant	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134233084G>T	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.610+1G>T	8.37:g.134233084G>T						WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron	p.D204_splice	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		3	716	+	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)		204					A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Splice_Site	SNP	ENST00000250160.6	37	c.610_splice	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445616	0.25987	.	.	ENSG00000104415	ENST00000250160	T	0.79141	-1.24	4.76	4.76	0.60689	.	2.223260	0.01742	N	0.029469	T	0.65491	0.2696	N	0.08118	0	0.80722	D	1	P	0.40266	0.71	B	0.36289	0.221	T	0.55592	-0.8117	10	0.52906	T	0.07	-18.4018	12.5036	0.55970	0.0:0.0:0.8212:0.1788	.	204	O95388	WISP1_HUMAN	Y	204	ENSP00000250160:D204Y	ENSP00000250160:D204Y	D	+	1	0	WISP1	134302266	0.975000	0.34042	0.916000	0.36221	0.100000	0.18952	2.247000	0.43151	2.193000	0.70182	0.557000	0.71058	GAT		0.627	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882	Missense_Mutation	13	33	1	0	2.31682e-05	1	2.47551e-05	13	33					T	134233084	G	T	134233084	5	4	443	1	0	0	0	0	0	0	1	0	17369	1130	39	5	620	5	WISP1	8	134233084	Splice_Site	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	8183516	134233084	12130938	71	30511											
PIGO	84720	broad.mit.edu	37	chr9	35092294	35092294	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcttggacccccagccagcCcaggctttccacagaaaagg	10	6	9	16	0	1	1	0	0	1	1	2	2	2	2	5	3	2	1	5	3	2	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:35092294C>G	ENST00000378617.3	-	7	1984	c.1590G>C	c.(1588-1590)tgG>tgC	p.W530C	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000341666.3_Missense_Mutation_p.W530C|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	530					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			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)			CCCAGCCAGCCCAGGCTTTCC	0.562																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(1588-1590)tgG>tgC		phosphatidylinositol glycan anchor biosynthesis, class O							40	44	42					9																	35092294		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092294C>G	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1590G>C	9.37:g.35092294C>G	ENSP00000367880:p.Trp530Cys					PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.W530C	p.W530C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1984	-			530					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.1590G>C	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	8.485	0.860673	0.17178	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.56275	0.47;0.47	5.55	4.62	0.57501	.	0.369227	0.32836	N	0.005600	T	0.47930	0.1472	L	0.56769	1.78	0.58432	D	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.40608	-0.9554	10	0.38643	T	0.18	-20.8541	12.3953	0.55380	0.1313:0.7421:0.1266:0.0	.	530	Q8TEQ8	PIGO_HUMAN	C	530	ENSP00000367880:W530C;ENSP00000339382:W530C	ENSP00000339382:W530C	W	-	3	0	PIGO	35082294	0.012000	0.17670	0.997000	0.53966	0.722000	0.41435	0.788000	0.26872	2.894000	0.99253	0.655000	0.94253	TGG		0.562	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		13	15	0	0	0	1	0	13	15					G	35092294	C	G	35092294	3	3	443	1	0	0	0	0	1	0	0	0	11894	624	22	5	1699	5	PIGO	9	35092294	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08		35092294	106121137	72	30512											
ALDH1B1	219	broad.mit.edu	37	chr9	38396792	38396792	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcaaagcagaggaaagtgggGaacccctttgagctggacac	13	5	14	9	0	0	2	0	1	0	1	0	5	0	5	2	4	3	3	2	4	3	1	rs199975848		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:38396792G>A	ENST00000377698.3	+	2	1200	c.1047G>A	c.(1045-1047)ggG>ggA	p.G349G		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	349					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		GGAAAGTGGGGAACCCCTTTG	0.567																																						ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(1045-1047)ggG>ggA		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						53	57	56					9																	38396792		2203	4300	6503	SO:0001819	synonymous_variant	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396792G>A	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"Aldehyde dehydrogenases"	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.1047G>A	9.37:g.38396792G>A							p.G349G	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	1200	+			349					B2R8F0|Q8WX76|Q9BV45	Silent	SNP	ENST00000377698.3	37	c.1047G>A	CCDS6615.1																																																																																				0.567	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			14	17	0	0	0	1	0	14	17					A	38396792	G	A	38396792	2	1	443	1	0	0	0	0	0	0	0	1	493	1161	41	3		3	ALDH1B1	9	38396792	Silent	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	3304498	38396792	102816639	73	30513											
KIAA0368	23392	broad.mit.edu	37	chr9	114199253	114199253	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgtccatgggttatcAccaataactcgtttggctgc	8	13	10	10	1	2	0	2	0	0	0	4	0	3	0	2	3	2	3	2	3	3	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:114199253A>G	ENST00000338205.5	-	6	894	c.675T>C	c.(673-675)ggT>ggC	p.G225G	KIAA0368_ENST00000259335.4_Silent_p.G403G			Q5VYK3	ECM29_HUMAN	KIAA0368	231					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				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						ATGGGTTATCACCAATAACTC	0.463																																						ENST00000259335.4																			0				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						c.(1207-1209)ggT>ggC		KIAA0368							107	111	110					9																	114199253		2083	4228	6311	SO:0001819	synonymous_variant	23392							g.chr9:114199253A>G	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.675T>C	9.37:g.114199253A>G						KIAA0368_ENST00000338205.5_Silent_p.G225G	p.G403G	NM_001080398.1	NP_001073867.1					8	1208	-								O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37	c.1209T>C																																																																																					0.463	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		41	117	0	0	0	1	0	41	117					G	114199253	A	G	114199253	2	3	443	1	0	0	0	0	0	0	0	1	8171	146	6	4		4	KIAA0368	9	114199253	Silent	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	75802461	114199253	27014178	74	30514											
WDR31	114987	broad.mit.edu	37	chr9	116079080	116079080	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttggctgtggtccattctGagtaagtgaattcctctgtt	6	16	10	9	0	2	2	0	2	2	0	4	2	4	2	3	2	0	3	3	2	2	5			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:116079080G>C	ENST00000374193.4	-	11	1299	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L	WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Silent_p.L350L|WDR31_ENST00000374195.3_Silent_p.L226L	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	351										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GGTCCATTCTGAGTAAGTGAA	0.502																																						ENST00000374193.4																			0				NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(1051-1053)ctC>ctG		WD repeat domain 31							159	144	149					9																	116079080		2203	4300	6503	SO:0001819	synonymous_variant	114987							g.chr9:116079080G>C	BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"WD repeat domain containing"	21421	protein-coding gene	gene with protein product	"similar to spermatid WD-repeat protein"						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.1053C>G	9.37:g.116079080G>C						WDR31_ENST00000341761.4_Silent_p.L350L|WDR31_ENST00000374195.3_Silent_p.L226L|WDR31_ENST00000461942.1_5'UTR	p.L351L	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN			11	1299	-			351					Q5W0T9|Q96EG8	Silent	SNP	ENST00000374193.4	37	c.1053C>G	CCDS35110.1																																																																																				0.502	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	NM_145241		48	32	0	0	0	1	0	48	32					C	116079080	G	C	116079080	2	2	443	1	0	0	0	0	0	0	0	1	17283	1277	45	5		5	WDR31	9	116079080	Silent	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	1879827	116079080	25134351	75	30515											
CACNA1B	774	broad.mit.edu	37	chr9	140846798	140846798	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatcggctccttcttcAtgctcaacctggtgctgggc	5	13	9	14	1	5	0	4	0	1	0	7	0	6	0	2	3	3	3	2	3	1	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:140846798A>G	ENST00000371372.1	+	7	1184	c.1039A>G	c.(1039-1041)Atg>Gtg	p.M347V	CACNA1B_ENST00000371357.1_Missense_Mutation_p.M347V|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.M347V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.M347V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.M347V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	347					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			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)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCCTTCTTCATGCTCAACCT	0.587																																						ENST00000371372.1																			0				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						c.(1039-1041)Atg>Gtg		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						101	108	106					9																	140846798		2155	4268	6423	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140846798A>G	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1039A>G	9.37:g.140846798A>G	ENSP00000360423:p.Met347Val					CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.M347V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.M347V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.M347V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.M347V	p.M347V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	7	1184	+	all_cancers(76;0.166)		347					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1039A>G	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690777	0.48097	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43	5.67	5.67	0.87782	.	0.082046	0.85682	D	0.000000	D	0.86594	0.5970	N	0.10837	0.055	0.80722	D	1	D	0.59357	0.985	D	0.72338	0.977	T	0.82303	-0.0524	10	0.05721	T	0.95	.	15.6082	0.76692	1.0:0.0:0.0:0.0	.	347	B1AQK6	.	V	347	ENSP00000360423:M347V;ENSP00000277551:M347V;ENSP00000360414:M347V;ENSP00000360408:M347V;ENSP00000360406:M347V	ENSP00000277551:M347V	M	+	1	0	CACNA1B	139966619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.001000	0.70685	2.179000	0.69175	0.472000	0.43445	ATG		0.587	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		3	39	0	0	0	1	0	3	39					G	140846798	A	G	140846798	3	3	443	1	0	0	0	0	1	0	0	0	2539	217	8	4	1065	4	CACNA1B	9	140846798	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	24767718	140846798	366633	76	30516											
PRTFDC1	56952	broad.mit.edu	37	chr10	25160954	25160954	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcgttgaaagatcatcGcctccgattatctgcatctc	9	11	8	13	3	3	2	1	1	2	1	6	3	4	2	3	0	2	2	3	0	2	2	rs201109414	byFrequency	TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:25160954G>A	ENST00000320152.6	-	4	406	c.378C>T	c.(376-378)ggC>ggT	p.G126G	PRTFDC1_ENST00000376378.1_Silent_p.G126G	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	126					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						AAAGATCATCGCCTCCGATTA	0.463													G|||	2	0.000399361	0	0	5008	,	,		19130	0.002		0	False		,,,				2504	0					ENST00000320152.6																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						c.(376-378)ggC>ggT		phosphoribosyl transferase domain containing 1							287	245	259					10																	25160954		2203	4300	6503	SO:0001819	synonymous_variant	56952				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	g.chr10:25160954G>A	AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.378C>T	10.37:g.25160954G>A						PRTFDC1_ENST00000376378.1_Silent_p.G126G	p.G126G	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN			4	406	-			126					B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Silent	SNP	ENST00000320152.6	37	c.378C>T	CCDS7145.1																																																																																				0.463	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	NM_020200		107	130	0	0	0	1	0	107	130					A	25160954	G	A	25160954	2	1	443	1	0	0	0	0	0	0	0	1	12637	1074	38	1		1	PRTFDC1	10	25160954	Silent	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08		25160954	110373793	77	30517											
MYOZ1	58529	broad.mit.edu	37	chr10	75391917	75391917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaccatagggcattgccGtcctgagaaggggacacatt	11	8	11	11	1	0	1	0	1	0	1	2	3	2	2	4	3	1	1	4	3	2	3	rs376703108		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:75391917G>A	ENST00000359322.4	-	6	1035	c.671C>T	c.(670-672)aCg>aTg	p.T224M	RP11-464F9.22_ENST00000609434.1_lincRNA	NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GGGCATTGCCGTCCTGAGAAG	0.473																																						ENST00000359322.4																			0				central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12						c.(670-672)aCg>aTg		myozenin 1		G	MET/THR	0,4406		0,0,2203	59	53	55		671	5.6	1	10		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYOZ1	NM_021245.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	224/300	75391917	1,13005	2203	4300	6503	SO:0001583	missense	58529				myofibril assembly	nucleus|pseudopodium	FATZ binding	g.chr10:75391917G>A	AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"calsarcin-2"	605603	"myozenin"	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.671C>T	10.37:g.75391917G>A	ENSP00000352272:p.Thr224Met						p.T224M	NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN			6	1035	-	Prostate(51;0.0112)		224						Missense_Mutation	SNP	ENST00000359322.4	37	c.671C>T	CCDS7330.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283658	0.59867	0.0	1.16E-4	ENSG00000177791	ENST00000359322	T	0.65364	-0.15	5.63	5.63	0.86233	.	0.218304	0.44688	D	0.000430	T	0.63710	0.2534	L	0.58428	1.81	0.40561	D	0.981218	P	0.50066	0.931	P	0.45506	0.483	T	0.67937	-0.5541	10	0.52906	T	0.07	-9.785	15.1916	0.73049	0.0:0.1404:0.8596:0.0	.	224	Q9NP98	MYOZ1_HUMAN	M	224	ENSP00000352272:T224M	ENSP00000352272:T224M	T	-	2	0	MYOZ1	75061923	1.000000	0.71417	0.991000	0.47740	0.949000	0.60115	2.935000	0.48963	2.656000	0.90262	0.655000	0.94253	ACG		0.473	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1			3	20	0	0	0	1	0	3	20					A	75391917	G	A	75391917	3	1	443	1	0	0	0	0	1	0	0	0	10095	1145	40	1	232	1	MYOZ1	10	75391917	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	50230963	75391917	60142830	78	30518											
TLL2	7093	broad.mit.edu	37	chr10	98146717	98146717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccacaccaaccttcacaCatcttcttatcggcggccag	9	9	6	17	2	3	0	1	0	2	0	5	0	4	0	4	2	1	0	4	2	2	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:98146717C>T	ENST00000357947.3	-	14	2070	c.1845G>A	c.(1843-1845)atG>atA	p.M615I		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	615	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AACCTTCACACATCTTCTTAT	0.587																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1843-1845)atG>atA		tolloid-like 2							134	114	121					10																	98146717		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98146717C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1845G>A	10.37:g.98146717C>T	ENSP00000350630:p.Met615Ile						p.M615I	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	14	2070	-		Colorectal(252;0.0846)	615			EGF-like 1; calcium-binding (Potential).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1845G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909351	0.33721	.	.	ENSG00000095587	ENST00000357947	D	0.96334	-3.98	4.43	-8.86	0.00795	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.754197	0.11253	N	0.583411	D	0.84669	0.5523	N	0.05383	-0.06	0.24052	N	0.996048	B	0.15719	0.014	B	0.18263	0.021	T	0.77146	-0.2695	10	0.18710	T	0.47	.	3.8406	0.08912	0.0848:0.2003:0.3845:0.3305	.	615	Q9Y6L7	TLL2_HUMAN	I	615	ENSP00000350630:M615I	ENSP00000350630:M615I	M	-	3	0	TLL2	98136707	0.372000	0.25064	0.460000	0.27093	0.493000	0.33554	-0.328000	0.07945	-1.325000	0.02269	-0.339000	0.08088	ATG		0.587	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			35	3	0	0	0	1	0	35	3					T	98146717	C	T	98146717	3	4	443	1	0	0	0	0	1	0	0	0	15943	478	17	3	1234	3	TLL2	10	98146717	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	22754800	98146717	37388030	79	30519											
C10orf81	79949	broad.mit.edu	37	chr10	115535574	115535574	+	Missense_Mutation	SNP	C	C	A																															actgaacgttttcctttctcCtcctgatgtcatcaactatc																										TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:115535574C>A	ENST00000369310.3	+	10	1542	c.980C>A	c.(979-981)cCt>cAt	p.P327H	PLEKHS1_ENST00000354462.3_Missense_Mutation_p.P77H|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.P161H|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.P245H|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.P347H	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	341																	TTCCTTTCTCCTCCTGATGTC	0.438																																						ENST00000354462.3																			0											c.(229-231)cCt>cAt		pleckstrin homology domain containing, family S member 1							165	149	154					10																	115535574		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115535574C>A	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"Pleckstrin homology (PH) domain containing"	26285	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 81"	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.980C>A	10.37:g.115535574C>A	ENSP00000358316:p.Pro327His					PLEKHS1_ENST00000369309.1_Missense_Mutation_p.P161H|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.P347H|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.P245H|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.P327H	p.P77H							4	388	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	c.230C>A	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315436	0.23908	.	.	ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310;ENST00000369309;ENST00000354462	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	6.04	1.78	0.24846	.	0.698117	0.14956	N	0.288624	T	0.21186	0.0510	L	0.45581	1.43	0.09310	N	0.999998	B;B;B;B	0.33073	0.054;0.396;0.186;0.226	B;B;B;B	0.29663	0.026;0.105;0.042;0.085	T	0.13255	-1.0516	10	0.38643	T	0.18	-7.5207	4.3854	0.11314	0.3797:0.4463:0.0:0.174	.	341;327;327;347	Q5SXH7;Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	CJ081_HUMAN;.;.;.	H	347;245;327;161;77	ENSP00000354332:P347H;ENSP00000358318:P245H;ENSP00000358316:P327H;ENSP00000358315:P161H;ENSP00000346451:P77H	ENSP00000346451:P77H	P	+	2	0	C10orf81	115525564	0.363000	0.24989	0.502000	0.27614	0.725000	0.41563	0.933000	0.28897	0.446000	0.26666	-0.310000	0.09108	CCT		0.438	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		40	48	1	0	8.72198e-27	1	1.04664e-26	40	48					A	115535574	C	A	115535574	3	1	443	1	0	0	0	0	1	0	0	0	1619	681	24	5	1078	5	C10orf81	10	115535574	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	17388857	115535574	19999173	80	30520	146	2									
C10orf81	79949	broad.mit.edu	37	chr10	115535575	115535575	+	Silent	SNP	T	T	G																															ctgaacgttttcctttctccTcctgatgtcatcaactatct																										TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:115535575T>G	ENST00000369310.3	+	10	1543	c.981T>G	c.(979-981)ccT>ccG	p.P327P	PLEKHS1_ENST00000354462.3_Silent_p.P77P|PLEKHS1_ENST00000369309.1_Silent_p.P161P|PLEKHS1_ENST00000369312.4_Silent_p.P245P|PLEKHS1_ENST00000361048.1_Silent_p.P347P	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	341																	TCCTTTCTCCTCCTGATGTCA	0.433																																						ENST00000354462.3																			0											c.(229-231)ccT>ccG		pleckstrin homology domain containing, family S member 1							164	148	153					10																	115535575		2203	4300	6503	SO:0001819	synonymous_variant	79949							g.chr10:115535575T>G	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"Pleckstrin homology (PH) domain containing"	26285	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 81"	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.981T>G	10.37:g.115535575T>G						PLEKHS1_ENST00000369309.1_Silent_p.P161P|PLEKHS1_ENST00000361048.1_Silent_p.P347P|PLEKHS1_ENST00000369312.4_Silent_p.P245P|PLEKHS1_ENST00000369310.3_Silent_p.P327P	p.P77P							4	389	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Silent	SNP	ENST00000369310.3	37	c.231T>G	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	T	7.023	0.559073	0.13436	.	.	ENSG00000148735	ENST00000448805	.	.	.	6.04	-0.792	0.10925	.	.	.	.	.	T	0.19208	0.0461	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24012	-1.0172	4	.	.	.	-7.5207	1.235	0.01951	0.1391:0.1687:0.3203:0.3718	.	.	.	.	A	58	.	.	S	+	1	0	C10orf81	115525565	0.034000	0.19679	0.134000	0.22075	0.722000	0.41435	0.083000	0.14871	0.135000	0.18707	0.459000	0.35465	TCC		0.433	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		40	47	0	0	0	1	0	40	47					G	115535575	T	G	115535575	2	3	443	1	0	0	0	0	0	0	0	1	1619	1538	54	5		5	C10orf81	10	115535575	Silent	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	1	115535575	19999172	81	30521	146	2									
BTBD16	118663	broad.mit.edu	37	chr10	124050674	124050674	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactgggagtgctggcttcCgcccacatcctccagttcag	6	10	10	15	1	1	0	1	0	0	0	4	1	4	1	4	2	2	3	4	2	1	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:124050674C>G	ENST00000260723.4	+	7	806	c.555C>G	c.(553-555)tcC>tcG	p.S185S	BTBD16_ENST00000368994.2_Silent_p.S186S	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	185	BTB.									breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TGCTGGCTTCCGCCCACATCC	0.582																																						ENST00000368994.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(556-558)tcC>tcG		BTB (POZ) domain containing 16							117	112	114					10																	124050674		2203	4300	6503	SO:0001819	synonymous_variant	118663							g.chr10:124050674C>G	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"BTB/POZ domain containing"	26340	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 87"	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.555C>G	10.37:g.124050674C>G						BTBD16_ENST00000260723.4_Silent_p.S185S	p.S186S			Q32M84	BTBDG_HUMAN			7	809	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	185			BTB.		A6NM63|Q4VXL1|Q96LN0	Silent	SNP	ENST00000260723.4	37	c.558C>G	CCDS31301.1																																																																																				0.582	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		39	37	0	0	0	1	0	39	37					G	124050674	C	G	124050674	2	3	443	1	0	0	0	0	0	0	0	1	1541	639	23	5		5	BTBD16	10	124050674	Silent	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	8515099	124050674	11484073	82	30522											
IFITM5	387733	broad.mit.edu	37	chr11	298630	298630	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcggcaccagcgtccacatCgcggccaggatgttgtagca	8	6	14	13	4	0	0	0	0	0	0	2	1	1	1	3	4	2	4	3	4	1	2	rs577445211	byFrequency	TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr11:298630C>T	ENST00000382614.2	-	2	305	c.270G>A	c.(268-270)gcG>gcA	p.A90A		NM_001025295.2	NP_001020466.1	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	90					bone mineralization (GO:0030282)|regulation of bone mineralization (GO:0030500)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;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)		GCGTCCACATCGCGGCCAGGA	0.647													c|||	2	0.000399361	0	0.0014	5008	,	,		16256	0		0	False		,,,				2504	0.001					ENST00000382614.2																			0				lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(268-270)gcG>gcA		interferon induced transmembrane protein 5							54	52	53					11																	298630		2203	4300	6503	SO:0001819	synonymous_variant	387733				multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane		g.chr11:298630C>T	AA463818, CR747200, DY654432	CCDS31323.1	11p15.5	2010-05-12			ENSG00000206013	ENSG00000206013			16644	protein-coding gene	gene with protein product		614757				11106657, 12659663, 18442316	Standard	NM_001025295		Approved	fragilis4, Hrmp1, BRIL	uc001low.2	A6NNB3	OTTHUMG00000165355	ENST00000382614.2:c.270G>A	11.37:g.298630C>T							p.A90A	NM_001025295.1	NP_001020466.1	A6NNB3	IFM5_HUMAN		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)	2	305	-		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)	90						Silent	SNP	ENST00000382614.2	37	c.270G>A	CCDS31323.1																																																																																				0.647	IFITM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383588.1	NM_001025295		16	3	0	0	0	1	0	16	3					T	298630	C	T	298630	2	4	443	1	0	0	0	0	0	0	0	1	7529	871	31	2		2	IFITM5	11	298630	Silent	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08		298630	134707886	83	30523											
KCNC1	3746	broad.mit.edu	37	chr11	17793359	17793359	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctactaccgggaggccGagacggaggccttccttacc	7	7	13	14	4	0	1	0	0	0	1	1	4	1	3	5	4	4	1	5	4	3	4			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr11:17793359G>T	ENST00000379472.3	+	2	748	c.718G>T	c.(718-720)Gag>Tag	p.E240*	KCNC1_ENST00000265969.6_Nonsense_Mutation_p.E240*	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	240					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CCGGGAGGCCGAGACGGAGGC	0.572																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(718-720)Gag>Tag		potassium voltage-gated channel, Shaw-related subfamily, member 1							265	219	234					11																	17793359		2200	4293	6493	SO:0001587	stop_gained	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793359G>T	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.718G>T	11.37:g.17793359G>T	ENSP00000368785:p.Glu240*					KCNC1_ENST00000265969.6_Nonsense_Mutation_p.E240*	p.E240*	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	748	+			240					K4DI87	Nonsense_Mutation	SNP	ENST00000379472.3	37	c.718G>T	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783053	0.90282	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	.	.	.	4.77	4.77	0.60923	.	0.814504	0.10528	N	0.664226	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	17.808	0.88607	0.0:0.0:1.0:0.0	.	.	.	.	X	240	.	ENSP00000265969:E240X	E	+	1	0	KCNC1	17749935	1.000000	0.71417	0.975000	0.42487	0.866000	0.49608	9.869000	0.99810	2.202000	0.70862	0.555000	0.69702	GAG		0.572	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		46	9	1	0	1.23103e-26	1	1.46596e-26	46	9					T	17793359	G	T	17793359	4	4	443	1	0	0	0	0	0	1	0	0	8014	1059	37	5	724	5	KCNC1	11	17793359	Nonsense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	17494729	17793359	117213157	84	30524											
SSRP1	6749	broad.mit.edu	37	chr11	57095829	57095829	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttggcctttttgagctgtTtccgcttcttctcatcccgg	2	18	8	13	2	3	1	1	1	3	0	6	1	5	1	3	2	1	3	3	2	0	6			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr11:57095829T>C	ENST00000278412.2	-	13	1819	c.1553A>G	c.(1552-1554)aAa>aGa	p.K518R	RP11-872D17.4_ENST00000534162.1_RNA|snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	518	Arg/Lys-rich (basic).				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TTTGAGCTGTTTCCGCTTCTT	0.567																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.(1552-1554)aAa>aGa		structure specific recognition protein 1							164	145	151					11																	57095829		2201	4296	6497	SO:0001583	missense	6749				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	g.chr11:57095829T>C	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1553A>G	11.37:g.57095829T>C	ENSP00000278412:p.Lys518Arg						p.K518R	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN			13	1819	-			518			Arg/Lys-rich (basic).		Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.1553A>G	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.607788	0.66558	.	.	ENSG00000149136	ENST00000278412	D	0.93547	-3.24	4.94	4.94	0.65067	.	0.506014	0.19991	N	0.101551	D	0.95020	0.8388	L	0.58302	1.8	0.47698	D	0.999493	D	0.57571	0.98	D	0.70227	0.968	D	0.93223	0.6610	10	0.26408	T	0.33	.	12.5914	0.56445	0.0:0.0:0.0:1.0	.	518	Q08945	SSRP1_HUMAN	R	518	ENSP00000278412:K518R	ENSP00000278412:K518R	K	-	2	0	SSRP1	56852405	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.834000	0.62774	2.071000	0.62044	0.459000	0.35465	AAA		0.567	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		5	60	0	0	0	1	0	5	60					C	57095829	T	C	57095829	3	2	443	1	0	0	0	0	1	0	0	0	15193	1841	64	4	596	4	SSRP1	11	57095829	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	39302470	57095829	77910687	85	30525											
SORL1	6653	broad.mit.edu	37	chr11	121490558	121490558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccccgtcacctgcatgtgGttcatacgggcaaaacctcc	9	8	8	16	2	2	0	2	0	0	0	3	0	3	0	5	2	3	3	5	2	3	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr11:121490558G>A	ENST00000260197.7	+	43	5950	c.5821G>A	c.(5821-5823)Gtt>Att	p.V1941I	SORL1_ENST00000527934.1_Missense_Mutation_p.V556I|SORL1_ENST00000525532.1_Missense_Mutation_p.V885I|SORL1_ENST00000534286.1_Missense_Mutation_p.V851I|SORL1_ENST00000532694.1_Missense_Mutation_p.V787I	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1941	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCTGCATGTGGTTCATACGGG	0.557																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(5821-5823)Gtt>Att		sortilin-related receptor, L(DLR class) A repeats containing							226	197	206					11																	121490558		2202	4299	6501	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121490558G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5821G>A	11.37:g.121490558G>A	ENSP00000260197:p.Val1941Ile					SORL1_ENST00000532694.1_Missense_Mutation_p.V787I|SORL1_ENST00000534286.1_Missense_Mutation_p.V851I|SORL1_ENST00000527934.1_Missense_Mutation_p.V556I|SORL1_ENST00000525532.1_Missense_Mutation_p.V885I	p.V1941I	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	43	5950	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1941			Fibronectin type-III 5.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.5821G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745383	0.30955	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.77	4.86	0.63082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.38904	0.1058	N	0.20986	0.625	0.45150	D	0.99816	B;B	0.32409	0.37;0.117	B;B	0.34242	0.178;0.106	T	0.28459	-1.0043	10	0.40728	T	0.16	.	10.7821	0.46384	0.1435:0.0:0.8565:0.0	.	556;1941	E9PKB0;Q92673	.;SORL_HUMAN	I	1941;885;787;851;556	ENSP00000260197:V1941I;ENSP00000434634:V885I;ENSP00000432131:V787I;ENSP00000436447:V851I;ENSP00000435405:V556I	ENSP00000260197:V1941I	V	+	1	0	SORL1	120995768	1.000000	0.71417	0.026000	0.17262	0.022000	0.10575	6.536000	0.73842	1.441000	0.47550	0.561000	0.74099	GTT		0.557	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		22	55	0	0	0	1	0	22	55					A	121490558	G	A	121490558	3	1	443	1	0	0	0	0	1	0	0	0	14934	1261	44	3	5991	3	SORL1	11	121490558	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	64394729	121490558	13515958	86	30526											
HEPACAM	220296	broad.mit.edu	37	chr11	124793827	124793827	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttggtgccattctcatgTgagcagttcaaggtgaaggc	8	11	14	8	0	2	2	2	2	1	0	3	2	2	2	1	4	2	3	1	4	2	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr11:124793827T>G	ENST00000298251.4	-	3	912	c.507A>C	c.(505-507)tcA>tcC	p.S169S		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CATTCTCATGTGAGCAGTTCA	0.582																																						ENST00000298251.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(505-507)tcA>tcC		hepatic and glial cell adhesion molecule							100	76	84					11																	124793827		2201	4299	6500	SO:0001819	synonymous_variant	220296				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		g.chr11:124793827T>G	AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26361	protein-coding gene	gene with protein product	"glial cell adhesion molecule"	611642	"hepatocyte cell adhesion molecule"			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.507A>C	11.37:g.124793827T>G							p.S169S	NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	3	912	-	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)	169			Ig-like C2-type.			Silent	SNP	ENST00000298251.4	37	c.507A>C	CCDS8456.1																																																																																				0.582	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	NM_152722		10	6	0	0	0	1	0	10	6					G	124793827	T	G	124793827	2	3	443	1	0	0	0	0	0	0	0	1	7052	1683	59	5		5	HEPACAM	11	124793827	Silent	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	3303269	124793827	10212689	87	30527											
KRT85	3891	broad.mit.edu	37	chr12	52757020	52757031	+	Splice_Site	DEL	TGCCACTCACCT	TGCCACTCACCT	-																															cttagcaggcaggtgtcctgTgccactcaccttgctacggt																										TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:52757020_52757031delTGCCACTCACCT	ENST00000257901.3	-	5	1025_1027	c.950_952delAGGTGAGTGGCA	c.(949-954)aaggtg>atg	p.317_318KV>M	KRT85_ENST00000544265.1_Splice_Site_p.105_106KV>M	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	317	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGTGTCCTGTGCCACTCACCTTGCTACGGTA	0.547																																						ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.e5+1		keratin 85																																				SO:0001630	splice_region_variant	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52757020_52757031delTGCCACTCACCT	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.951+1AGGTGAGTGGCA>-	12.37:g.52757020_52757031delTGCCACTCACCT						KRT85_ENST00000544265.1_Splice_Site_p.M105_splice	p.M317_splice	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	1025_1027	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		317			Coil 2.|Rod.		Q9NSB1	Splice_Site	DEL	ENST00000257901.3	37	c.951_splice	CCDS8824.1																																																																																				0.547	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283	In_Frame_Del	8	21						8	21	---	---	---	---	-	52757031	TGCCACTCACCT	-	52757020	8	5	443	1	0	1	0	1	0	0	1	0	8499	1711	59	0		0	KRT85	12	52757020	Splice_Site	DEL	TGCCACTCACCT	TCGA-XQ-A8TA-01A-11D-A364-08		52757020	81094875	88	30528											
KRT78	196374	broad.mit.edu	37	chr12	53237983	53237983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtccccatgaagctgggcaGacacctgaagttcctggtac	9	9	11	12	0	0	3	0	2	0	1	2	3	2	3	4	2	2	4	4	2	3	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:53237983G>A	ENST00000304620.4	-	6	1004	c.941C>T	c.(940-942)tCt>tTt	p.S314F	KRT78_ENST00000359499.4_Missense_Mutation_p.S204F	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	314	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						AAGCTGGGCAGACACCTGAAG	0.517																																						ENST00000359499.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(610-612)tCt>tTt		keratin 78							153	138	143					12																	53237983		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53237983G>A	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.941C>T	12.37:g.53237983G>A	ENSP00000306261:p.Ser314Phe					KRT78_ENST00000304620.4_Missense_Mutation_p.S314F	p.S204F			Q8N1N4	K2C78_HUMAN			6	622	-			314			Coil 1B.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.611C>T	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626552	0.46840	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	D;D	0.89617	-2.54;-2.54	4.65	3.74	0.42951	Filament (1);	0.354131	0.16748	N	0.201167	D	0.89959	0.6866	M	0.78801	2.425	0.09310	N	1	P	0.40875	0.731	B	0.43360	0.417	D	0.84060	0.0374	10	0.87932	D	0	.	12.6165	0.56580	0.0:0.1677:0.8323:0.0	.	314	Q8N1N4	K2C78_HUMAN	F	204;314;85	ENSP00000352479:S204F;ENSP00000306261:S314F	ENSP00000306261:S314F	S	-	2	0	KRT78	51524250	0.646000	0.27295	0.006000	0.13384	0.005000	0.04900	4.657000	0.61490	1.266000	0.44231	0.558000	0.71614	TCT		0.517	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		40	32	0	0	0	1	0	40	32					A	53237983	G	A	53237983	3	1	443	1	0	0	0	0	1	0	0	0	8491	942	33	3	637	3	KRT78	12	53237983	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	480963	53237983	80613912	89	30529											
ESPL1	9700	broad.mit.edu	37	chr12	53676966	53676966	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccataagctcctccgaagcAtcatcctcctgctgatgggc	8	9	8	16	1	1	1	1	1	0	0	5	2	5	1	5	1	3	3	5	1	2	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:53676966A>G	ENST00000257934.4	+	15	2936	c.2845A>G	c.(2845-2847)Atc>Gtc	p.I949V	ESPL1_ENST00000552462.1_Missense_Mutation_p.I949V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	949					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCTCCGAAGCATCATCCTCCT	0.532																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(2845-2847)Atc>Gtc		extra spindle pole bodies homolog 1 (S. cerevisiae)							117	107	110					12																	53676966		2203	4300	6503	SO:0001583	missense	9700				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	g.chr12:53676966A>G	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2845A>G	12.37:g.53676966A>G	ENSP00000257934:p.Ile949Val					ESPL1_ENST00000552462.1_Missense_Mutation_p.I949V	p.I949V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			15	2936	+			949						Missense_Mutation	SNP	ENST00000257934.4	37	c.2845A>G	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.604013	0.66445	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.14391	2.51;2.51	5.23	4.09	0.47781	.	0.059132	0.64402	D	0.000001	T	0.32675	0.0837	M	0.72118	2.19	0.32134	N	0.586378	D;P	0.67145	0.996;0.944	D;P	0.77557	0.99;0.523	T	0.42224	-0.9464	10	0.62326	D	0.03	.	9.1335	0.36859	0.9143:0.0:0.0857:0.0	.	160;949	B4DRU1;Q14674	.;ESPL1_HUMAN	V	949;624;949	ENSP00000257934:I949V;ENSP00000449831:I949V	ENSP00000257934:I949V	I	+	1	0	ESPL1	51963233	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.563000	0.45922	1.019000	0.39547	-0.256000	0.11100	ATC		0.532	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		7	50	0	0	0	1	0	7	50					G	53676966	A	G	53676966	3	3	443	1	0	0	0	0	1	0	0	0	5253	217	8	4	2899	4	ESPL1	12	53676966	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	438983	53676966	80174929	90	30530											
ANO4	121601	broad.mit.edu	37	chr12	101493355	101493355	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaattgatctttttgcccaGgttaattcagaattggtgga	11	15	10	5	0	2	2	1	1	1	1	2	4	2	3	1	3	1	1	1	3	3	6			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:101493355G>A	ENST00000392977.3	+	22	2216		c.e22-1		ANO4_ENST00000392979.3_Splice_Site|ANO4_ENST00000299222.9_Splice_Site|ANO4_ENST00000550015.1_Splice_Site			Q32M45	ANO4_HUMAN	anoctamin 4						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTTTTGCCCAGGTTAATTCAG	0.328										HNSCC(74;0.22)																												ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.e21-1		anoctamin 4							100	105	103					12																	101493355		2203	4300	6503	SO:0001630	splice_region_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101493355G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2007-1G>A	12.37:g.101493355G>A		HNSCC(74;0.22)				ANO4_ENST00000299222.9_Splice_Site|ANO4_ENST00000392977.3_Splice_Site|ANO4_ENST00000550015.1_Splice_Site		NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			21	2262	+								Q8NAJ0|Q8NB39|Q8NB53	Splice_Site	SNP	ENST00000392977.3	37			.	.	.	.	.	.	.	.	.	.	G	22.3	4.270153	0.80469	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9084	0.97016	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANO4	100017486	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	9.096000	0.94182	2.711000	0.92665	0.650000	0.86243	.		0.328	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	Intron	15	30	0	0	0	1	0	15	30					A	101493355	G	A	101493355	5	1	443	1	0	0	0	0	0	0	1	0	699	1014	35	3	1979	3	ANO4	12	101493355	Splice_Site	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	47816389	101493355	32358540	91	30531											
TMEM132D	121256	broad.mit.edu	37	chr12	129558643	129558643	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttttctgatctttcccaTcaatgatgatgggtcccaaa	10	14	6	11	0	3	3	1	3	2	0	5	3	5	3	2	1	0	0	2	1	2	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:129558643T>G	ENST00000422113.2	-	9	3403	c.3077A>C	c.(3076-3078)gAt>gCt	p.D1026A	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D564A	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1026					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				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)		ATCTTTCCCATCAATGATGAT	0.468																																						ENST00000422113.2																			0				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						c.(3076-3078)gAt>gCt		transmembrane protein 132D							106	106	106					12																	129558643		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129558643T>G	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3077A>C	12.37:g.129558643T>G	ENSP00000408581:p.Asp1026Ala					TMEM132D_ENST00000389441.4_Missense_Mutation_p.D564A	p.D1026A	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3403	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	1026					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.3077A>C	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	T	6.242	0.412714	0.11812	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.09073	3.02;3.83	4.33	3.14	0.36123	.	0.477638	0.20381	N	0.093451	T	0.07098	0.0180	L	0.47716	1.5	0.09310	N	1	P;B	0.42692	0.787;0.106	B;B	0.36666	0.23;0.048	T	0.28106	-1.0054	9	.	.	.	-12.8735	7.0173	0.24895	0.1474:0.0:0.1538:0.6988	.	1026;564	Q14C87;Q14C87-2	T132D_HUMAN;.	A	564;1026	ENSP00000374092:D564A;ENSP00000408581:D1026A	.	D	-	2	0	TMEM132D	128124596	0.012000	0.17670	0.005000	0.12908	0.013000	0.08279	0.638000	0.24674	0.584000	0.29591	0.460000	0.39030	GAT		0.468	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		16	67	0	0	0	1	0	16	67					G	129558643	T	G	129558643	3	3	443	1	0	0	0	0	1	0	0	0	16044	1435	50	5	226	5	TMEM132D	12	129558643	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	28065288	129558643	4293252	92	30532											
CENPJ	55835	broad.mit.edu	37	chr13	25478177	25478177	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataattttctctctcaaaacCtgggatcgagcattgtcacc	11	13	6	11	1	3	0	2	0	2	0	6	2	3	1	2	1	2	1	2	1	3	4			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr13:25478177C>G	ENST00000381884.4	-	8	2897	c.2712G>C	c.(2710-2712)caG>caC	p.Q904H	CENPJ_ENST00000545981.1_Missense_Mutation_p.Q904H	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	904					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTCTCAAAACCTGGGATCGAG	0.368																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2710-2712)caG>caC		centromere protein J							128	124	125					13																	25478177		2203	4300	6503	SO:0001583	missense	55835				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	g.chr13:25478177C>G	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.2712G>C	13.37:g.25478177C>G	ENSP00000371308:p.Gln904His					CENPJ_ENST00000545981.1_Missense_Mutation_p.Q904H	p.Q904H	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	8	2897	-		Lung SC(185;0.0225)|Breast(139;0.0602)	904					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.2712G>C	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487518	0.63962	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.37058	1.22;1.79	6.03	3.14	0.36123	.	0.129244	0.53938	D	0.000044	T	0.53932	0.1827	M	0.74881	2.28	0.28584	N	0.90997	D	0.89917	1.0	D	0.68192	0.956	T	0.50189	-0.8857	10	0.66056	D	0.02	.	8.1735	0.31268	0.0:0.7159:0.0:0.2841	.	904	Q9HC77	CENPJ_HUMAN	H	904	ENSP00000371308:Q904H;ENSP00000441090:Q904H	ENSP00000371308:Q904H	Q	-	3	2	CENPJ	24376177	0.670000	0.27512	0.998000	0.56505	0.999000	0.98932	0.866000	0.27954	0.745000	0.32763	0.655000	0.94253	CAG		0.368	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		28	55	0	0	0	1	0	28	55					G	25478177	C	G	25478177	3	3	443	1	0	0	0	0	1	0	0	0	3234	680	24	5	1344	5	CENPJ	13	25478177	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08		25478177	89691701	93	30533											
THSD1	55901	broad.mit.edu	37	chr13	52952163	52952163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtcctcctgaaatgggCgttcctggcatggctccttt	4	13	11	13	2	0	1	0	1	0	0	4	1	4	1	4	3	0	4	4	3	1	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr13:52952163C>T	ENST00000258613.4	-	5	2120	c.1942G>A	c.(1942-1944)Gcc>Acc	p.A648T	THSD1_ENST00000544466.1_Missense_Mutation_p.A269T|THSD1_ENST00000349258.4_Missense_Mutation_p.A595T	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	648					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.A648T(1)		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)		CTGAAATGGGCGTTCCTGGCA	0.632																																						ENST00000349258.4																			1	Substitution - Missense(1)	p.A648T(1)	breast(1)	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						c.(1783-1785)Gcc>Acc		thrombospondin, type I, domain containing 1							46	47	46					13																	52952163		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52952163C>T	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1942G>A	13.37:g.52952163C>T	ENSP00000258613:p.Ala648Thr					THSD1_ENST00000258613.4_Missense_Mutation_p.A648T|THSD1_ENST00000544466.1_Missense_Mutation_p.A269T	p.A595T	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	4	2327	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	648					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.1783G>A	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	C	0.492	-0.874736	0.02550	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.30448	2.27;1.53;2.45	5.36	-0.0426	0.13862	.	0.640697	0.15983	N	0.235205	T	0.07773	0.0195	N	0.03608	-0.345	0.09310	N	1	B;P	0.38767	0.335;0.646	B;B	0.24974	0.057;0.054	T	0.19976	-1.0289	10	0.33940	T	0.23	-10.0629	1.468	0.02410	0.4188:0.2541:0.2114:0.1157	.	595;648	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	T	595;269;648	ENSP00000340650:A595T;ENSP00000438512:A269T;ENSP00000258613:A648T	ENSP00000258613:A648T	A	-	1	0	THSD1	51850164	0.009000	0.17119	0.025000	0.17156	0.004000	0.04260	0.126000	0.15769	-0.194000	0.10399	-2.253000	0.00282	GCC		0.632	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			20	14	0	0	0	1	0	20	14					T	52952163	C	T	52952163	3	4	443	1	0	0	0	0	1	0	0	0	15874	768	27	1	620	1	THSD1	13	52952163	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	27473986	52952163	62217715	94	30534											
COL4A1	1282	broad.mit.edu	37	chr13	110814789	110814789	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctggaaatcctcttggaCctggaagataggagacaaat	14	8	11	8	0	1	2	0	0	1	2	2	7	2	5	3	4	0	0	3	4	4	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr13:110814789C>A	ENST00000375820.4	-	48	4371	c.4250G>T	c.(4249-4251)gGt>gTt	p.G1417V	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1417	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			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)			TCCTCTTGGACCTGGAAGATA	0.468																																						ENST00000375820.4																			0				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						c.e48-1		collagen, type IV, alpha 1							55	62	60					13																	110814789		2203	4300	6503	SO:0001630	splice_region_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110814789C>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.4250-1G>T	13.37:g.110814789C>A						COL4A1_ENST00000467182.1_5'UTR	p.G1417_splice	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		48	4371	-	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)	1417			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Splice_Site	SNP	ENST00000375820.4	37	c.4249_splice	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970640	0.53614	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.99637	-6.29	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.99802	0.9915	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96738	0.9544	10	0.87932	D	0	.	18.3059	0.90180	0.0:1.0:0.0:0.0	.	1417	P02462	CO4A1_HUMAN	V	1060;1417;1066	ENSP00000364979:G1417V	ENSP00000364973:G1060V	G	-	2	0	COL4A1	109612790	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	7.470000	0.80973	2.378000	0.81104	0.561000	0.74099	GGT		0.468	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		Missense_Mutation	12	38	1	0	4.3838e-07	1	4.78233e-07	12	38					A	110814789	C	A	110814789	5	1	443	1	0	0	0	0	0	0	1	0	3689	521	18	5	779	5	COL4A1	13	110814789	Splice_Site	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	57862626	110814789	4355089	95	30535											
SLC22A17	51310	broad.mit.edu	37	chr14	23821250	23821250	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggggcgaagccgctgcaCgaggggtcggtactggtggc	5	5	21	10	5	0	0	0	0	0	0	1	2	0	0	1	8	3	3	1	8	2	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:23821250C>T	ENST00000206544.8	-	1	510	c.174G>A	c.(172-174)tcG>tcA	p.S58S	SLC22A17_ENST00000397260.3_De_novo_Start_OutOfFrame|SLC22A17_ENST00000354772.3_Silent_p.S58S|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Silent_p.S58S	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	58					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)	p.S58S(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGCCGCTGCACGAGGGGTCGG	0.672																																						ENST00000397260.3																			1	Substitution - coding silent(1)	p.S58S(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15								solute carrier family 22, member 17							26	22	24					14																	23821250		2200	4299	6499	SO:0001819	synonymous_variant	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23821250C>T	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"Solute carriers"	23095	protein-coding gene	gene with protein product	"neutrophil gelatinase-associated lipocalin receptor"	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.174G>A	14.37:g.23821250C>T						SLC22A17_ENST00000397267.1_Silent_p.S58S|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000206544.8_Silent_p.S58S|SLC22A17_ENST00000354772.3_Silent_p.S58S				Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	0	625	-	all_cancers(95;7.12e-06)							A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Translation_Start_Site	SNP	ENST00000206544.8	37		CCDS9593.1																																																																																				0.672	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372		3	4	0	0	0	1	0	3	4					T	23821250	C	T	23821250	2	4	443	1	0	0	0	0	0	0	0	1	14448	523	19	1		1	SLC22A17	14	23821250	Silent	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08		23821250	83528290	96	30536											
PSMA6	5687	broad.mit.edu	37	chr14	35782199	35782199	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggagttaaacaaactgaGtcaaccagcttccttgaaaa	15	8	9	9	1	1	2	1	2	0	0	2	3	2	3	2	1	4	2	2	1	6	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:35782199G>C	ENST00000261479.4	+	5	642	c.522G>C	c.(520-522)gaG>gaC	p.E174D	KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000555764.1_Missense_Mutation_p.E95D|PSMA6_ENST00000540871.1_Missense_Mutation_p.E155D|PSMA6_ENST00000556506.1_Missense_Mutation_p.E174D|PSMA6_ENST00000553809.1_Missense_Mutation_p.E180D	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	174					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AACAAACTGAGTCAACCAGCT	0.403																																						ENST00000261479.4																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(520-522)gaG>gaC		proteasome (prosome, macropain) subunit, alpha type, 6							116	126	123					14																	35782199		2203	4300	6503	SO:0001583	missense	5687				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	g.chr14:35782199G>C	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"Proteasome (prosome, macropain) subunits"	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.522G>C	14.37:g.35782199G>C	ENSP00000261479:p.Glu174Asp					PSMA6_ENST00000556506.1_Missense_Mutation_p.E174D|PSMA6_ENST00000553809.1_Missense_Mutation_p.E180D|PSMA6_ENST00000540871.1_Missense_Mutation_p.E155D|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000555764.1_Missense_Mutation_p.E95D	p.E174D	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	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)	5	642	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		174					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	ENST00000261479.4	37	c.522G>C	CCDS9655.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954378	0.53293	.	.	ENSG00000100902	ENST00000540871;ENST00000261479;ENST00000553809;ENST00000555764;ENST00000556506	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.57	5.57	0.84162	.	0.043981	0.85682	D	0.000000	T	0.28632	0.0709	M	0.70108	2.13	0.80722	D	1	B	0.19583	0.037	B	0.26416	0.069	T	0.04128	-1.0975	10	0.62326	D	0.03	-9.3541	14.1243	0.65210	0.0722:0.0:0.9278:0.0	.	174	P60900	PSA6_HUMAN	D	155;174;180;95;174	ENSP00000444844:E155D;ENSP00000261479:E174D;ENSP00000452603:E180D;ENSP00000452566:E95D;ENSP00000450528:E174D	ENSP00000261479:E174D	E	+	3	2	PSMA6	34851950	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.125000	0.42016	2.767000	0.95098	0.655000	0.94253	GAG		0.403	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			9	134	0	0	0	1	0	9	134					C	35782199	G	C	35782199	3	2	443	1	0	0	0	0	1	0	0	0	12671	1020	36	5	540	5	PSMA6	14	35782199	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	11960949	35782199	71567341	97	30537											
C14orf43	91748	broad.mit.edu	37	chr14	74206182	74206182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatcattggtcgcacatagCggtccagctgtgggcccccc	6	8	12	15	2	1	0	1	0	0	0	3	0	2	0	4	3	2	3	4	3	1	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:74206182C>T	ENST00000286523.5	-	2	1312	c.530G>A	c.(529-531)cGc>cAc	p.R177H	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.R177H|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TCGCACATAGCGGTCCAGCTG	0.617																																						ENST00000286523.5																			0											c.(529-531)cGc>cAc		ELM2 and Myb/SANT-like domain containing 1							53	59	57					14																	74206182		2203	4300	6503	SO:0001583	missense	91748							g.chr14:74206182C>T	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.530G>A	14.37:g.74206182C>T	ENSP00000286523:p.Arg177His					ELMSAN1_ENST00000394071.2_Missense_Mutation_p.R177H	p.R177H	NM_194278.3	NP_919254.2					2	1312	-								Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	c.530G>A	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605643	0.28623	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.03	2.51	0.30379	.	0.489509	0.18188	N	0.148902	T	0.05456	0.0144	N	0.08118	0	0.22066	N	0.999386	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.32268	-0.9913	10	0.31617	T	0.26	-9.4421	2.6178	0.04908	0.2501:0.4929:0.1217:0.1353	.	177;177	A0PJD3;Q6PJG2	.;CN043_HUMAN	H	177	ENSP00000377634:R177H;ENSP00000286523:R177H;ENSP00000407767:R177H;ENSP00000402380:R177H	ENSP00000286523:R177H	R	-	2	0	C14orf43	73275935	0.997000	0.39634	0.994000	0.49952	0.963000	0.63663	1.039000	0.30266	0.771000	0.33359	0.462000	0.41574	CGC		0.617	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		21	33	0	0	0	1	0	21	33					T	74206182	C	T	74206182	3	4	443	1	0	0	0	0	1	0	0	0	1774	768	27	1	2651	1	C14orf43	14	74206182	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	38423983	74206182	33143358	98	30538											
FLVCR2	55640	broad.mit.edu	37	chr14	76091035	76091035	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctcctgatgcctcatacTtaggttccatcgcccggctc	5	12	7	17	2	2	1	1	1	1	0	6	1	3	1	5	2	2	2	5	2	2	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:76091035T>G	ENST00000238667.4	+	3	1248	c.892T>G	c.(892-894)Tta>Gta	p.L298V	FLVCR2_ENST00000539311.1_Missense_Mutation_p.L93V|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000556856.1_Missense_Mutation_p.L46V|FLVCR2_ENST00000553587.1_Missense_Mutation_p.L46V	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	298					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGCCTCATACTTAGGTTCCAT	0.473																																						ENST00000238667.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(892-894)Tta>Gta		feline leukemia virus subgroup C cellular receptor family, member 2							122	118	119					14																	76091035		2203	4300	6503	SO:0001583	missense	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76091035T>G	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"Solute carriers"	20105	protein-coding gene	gene with protein product		610865	"chromosome 14 open reading frame 58", "feline leukemia virus subgroup C cellular receptor 2"	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.892T>G	14.37:g.76091035T>G	ENSP00000238667:p.Leu298Val					FLVCR2_ENST00000539311.1_Missense_Mutation_p.L93V|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000556856.1_Missense_Mutation_p.L46V|FLVCR2_ENST00000553587.1_Missense_Mutation_p.L46V	p.L298V	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	3	1248	+			298					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	ENST00000238667.4	37	c.892T>G	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	T	4.336	0.061832	0.08339	.	.	ENSG00000119686	ENST00000238667;ENST00000539311;ENST00000555058;ENST00000553587;ENST00000556856	T;T;T;T;T	0.60040	0.22;0.22;0.24;0.24;0.24	6.02	3.52	0.40303	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.873539	0.10336	N	0.686881	T	0.31888	0.0811	N	0.11106	0.095	0.51233	D	0.999917	B;B	0.06786	0.001;0.001	B;B	0.15870	0.014;0.004	T	0.19877	-1.0292	10	0.13853	T	0.58	-7.5661	3.1161	0.06375	0.1715:0.2837:0.0:0.5448	.	93;298	B7Z485;Q9UPI3	.;FLVC2_HUMAN	V	298;93;46;46;46	ENSP00000238667:L298V;ENSP00000443439:L93V;ENSP00000451104:L46V;ENSP00000451603:L46V;ENSP00000452468:L46V	ENSP00000238667:L298V	L	+	1	2	AC007182.1	75160788	0.077000	0.21312	0.502000	0.27614	0.581000	0.36288	0.463000	0.21972	0.970000	0.38263	0.533000	0.62120	TTA		0.473	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		35	41	0	0	0	1	0	35	41					G	76091035	T	G	76091035	3	3	443	1	0	0	0	0	1	0	0	0	5946	1606	56	5	902	5	FLVCR2	14	76091035	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	1884853	76091035	31258505	99	30539											
PPP4R4	57718	broad.mit.edu	37	chr14	94718134	94718134	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagacttcgatttttggataCctgtgaatttattatagaga	12	17	8	4	1	0	3	0	1	0	2	1	6	0	4	1	1	1	0	1	1	6	9			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:94718134C>A	ENST00000304338.3	+	16	1920	c.1766C>A	c.(1765-1767)aCc>aAc	p.T589N		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	589					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTTTTGGATACCTGTGAATTT	0.289																																						ENST00000304338.3																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.(1765-1767)aCc>aAc		protein phosphatase 4, regulatory subunit 4							53	59	57					14																	94718134		2201	4292	6493	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94718134C>A	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1766C>A	14.37:g.94718134C>A	ENSP00000305924:p.Thr589Asn						p.T589N	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN			16	1920	+			589					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.1766C>A	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978190	0.74360	.	.	ENSG00000119698	ENST00000304338	T	0.33438	1.41	5.72	5.72	0.89469	Armadillo-like helical (1);Armadillo-type fold (1);	0.274240	0.42821	D	0.000645	T	0.40498	0.1119	L	0.51422	1.61	0.80722	D	1	D	0.53312	0.959	P	0.47915	0.561	T	0.20075	-1.0286	10	0.62326	D	0.03	-11.4859	19.8599	0.96779	0.0:1.0:0.0:0.0	.	589	Q6NUP7	PP4R4_HUMAN	N	589	ENSP00000305924:T589N	ENSP00000305924:T589N	T	+	2	0	PPP4R4	93787887	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.201000	0.65163	2.696000	0.92011	0.462000	0.41574	ACC		0.289	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		22	46	1	0	2.89027e-11	1	3.29111e-11	22	46					A	94718134	C	A	94718134	3	1	443	1	0	0	0	0	1	0	0	0	12405	507	18	5	1901	5	PPP4R4	14	94718134	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	18627099	94718134	12631406	100	30540											
CDC42BPB	9578	broad.mit.edu	37	chr14	103442111	103442111	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagggcccgagatgagcCgtggagggactgcacggtct	7	6	18	10	3	1	3	0	2	1	1	1	6	1	5	2	4	2	2	2	4	0	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:103442111C>A	ENST00000361246.2	-	11	1705	c.1417G>T	c.(1417-1419)Ggc>Tgc	p.G473C		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CGAGATGAGCCGTGGAGGGAC	0.557																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(1417-1419)Ggc>Tgc		CDC42 binding protein kinase beta (DMPK-like)							130	141	137					14																	103442111		2203	4300	6503	SO:0001583	missense	9578				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	g.chr14:103442111C>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1417G>T	14.37:g.103442111C>A	ENSP00000355237:p.Gly473Cys						p.G473C	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	11	1705	-		Melanoma(154;0.155)	473						Missense_Mutation	SNP	ENST00000361246.2	37	c.1417G>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411207	0.42817	.	.	ENSG00000198752	ENST00000361246	T	0.65178	-0.14	5.34	0.706	0.18133	.	0.303033	0.40385	N	0.001113	T	0.63070	0.2480	L	0.57536	1.79	0.43714	D	0.996188	B	0.34241	0.444	P	0.46110	0.504	T	0.58064	-0.7702	10	0.36615	T	0.2	.	9.9133	0.41419	0.0:0.6038:0.0:0.3962	.	473	Q9Y5S2	MRCKB_HUMAN	C	473	ENSP00000355237:G473C	ENSP00000355237:G473C	G	-	1	0	CDC42BPB	102511864	0.023000	0.18921	0.001000	0.08648	0.429000	0.31625	0.562000	0.23531	0.195000	0.20347	-0.145000	0.13849	GGC		0.557	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		10	153	1	0	0.000442599	1	0.000463393	10	153					A	103442111	C	A	103442111	3	1	443	1	0	0	0	0	1	0	0	0	3073	652	23	5	3826	5	CDC42BPB	14	103442111	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	8723977	103442111	3907429	101	30541											
HERC2	8924	broad.mit.edu	37	chr15	28437220	28437220	+	Missense_Mutation	SNP	C	C	A																															caccatgcgggaccagctgtCcagcagcatgcctggctggc																										TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:28437220C>A	ENST00000261609.7	-	53	8446	c.8338G>T	c.(8338-8340)Gac>Tac	p.D2780Y		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		GACCAGCTGTCCAGCAGCATG	0.567											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261609.7																			0				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						c.(8338-8340)Gac>Tac		HECT and RLD domain containing E3 ubiquitin protein ligase 2							146	137	140					15																	28437220		2203	4300	6503	SO:0001583	missense	8924				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	g.chr15:28437220C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8338G>T	15.37:g.28437220C>A	ENSP00000261609:p.Asp2780Tyr		OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	801		p.D2780Y	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		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)	53	8446	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2780			DOC.			Missense_Mutation	SNP	ENST00000261609.7	37	c.8338G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	34	5.305502	0.95601	.	.	ENSG00000128731	ENST00000261609	T	0.64991	-0.13	5.51	5.51	0.81932	Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	0.098657	0.64402	D	0.000003	T	0.77438	0.4130	L	0.61218	1.895	0.80722	D	1	D;D	0.69078	0.991;0.997	P;D	0.65573	0.687;0.936	T	0.78687	-0.2107	10	0.87932	D	0	.	19.7682	0.96350	0.0:1.0:0.0:0.0	.	247;2780	A8KAQ8;O95714	.;HERC2_HUMAN	Y	2780	ENSP00000261609:D2780Y	ENSP00000261609:D2780Y	D	-	1	0	HERC2	26110815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.744000	0.94065	0.573000	0.79308	GAC		0.567	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		60	81	1	0	4.09166e-32	1	5.02598e-32	60	81					A	28437220	C	A	28437220	3	1	443	1	0	0	0	0	1	0	0	0	7058	855	30	5	6330	5	HERC2	15	28437220	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08		28437220	74094172	102	30542	147	2									
HERC2	8924	broad.mit.edu	37	chr15	28437221	28437221	+	Silent	SNP	C	C	A																															accatgcgggaccagctgtcCagcagcatgcctggctggct																										TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:28437221C>A	ENST00000261609.7	-	53	8445	c.8337G>T	c.(8335-8337)ctG>ctT	p.L2779L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											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)		ACCAGCTGTCCAGCAGCATGC	0.567											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261609.7																			0				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						c.(8335-8337)ctG>ctT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							145	136	139					15																	28437221		2203	4300	6503	SO:0001819	synonymous_variant	8924				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	g.chr15:28437221C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8337G>T	15.37:g.28437221C>A			OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	801		p.L2779L	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		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)	53	8445	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2779			DOC.			Silent	SNP	ENST00000261609.7	37	c.8337G>T	CCDS10021.1																																																																																				0.567	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		61	80	1	0	7.577e-32	1	9.23447e-32	61	80					A	28437221	C	A	28437221	2	1	443	1	0	0	0	0	0	0	0	1	7058	581	21	5		5	HERC2	15	28437221	Silent	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	1	28437221	74094171	103	30543	147	2									
AP4E1	23431	broad.mit.edu	37	chr15	51221310	51221310	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcggaaagcactttgtgAcagagatgttggggtcatgg	9	12	15	5	1	1	2	1	1	0	1	2	4	1	3	0	4	1	3	0	4	1	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:51221310A>C	ENST00000261842.5	+	6	753	c.647A>C	c.(646-648)gAc>gCc	p.D216A	AP4E1_ENST00000560508.1_Missense_Mutation_p.D141A	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	216					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				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)		GCACTTTGTGACAGAGATGTT	0.353																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(646-648)gAc>gCc		adaptor-related protein complex 4, epsilon 1 subunit							107	105	106					15																	51221310		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51221310A>C	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.647A>C	15.37:g.51221310A>C	ENSP00000261842:p.Asp216Ala					AP4E1_ENST00000560508.1_Missense_Mutation_p.D141A	p.D216A	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	6	753	+			216					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.647A>C	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.571419	0.86542	.	.	ENSG00000081014	ENST00000261842	T	0.46063	0.88	5.5	5.5	0.81552	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75639	-0.3248	10	0.87932	D	0	-12.3762	14.7863	0.69806	1.0:0.0:0.0:0.0	.	216;216	B4DM48;Q9UPM8	.;AP4E1_HUMAN	A	216	ENSP00000261842:D216A	ENSP00000261842:D216A	D	+	2	0	AP4E1	49008602	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.932000	0.92897	2.091000	0.63221	0.482000	0.46254	GAC		0.353	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			12	81	0	0	0	1	0	12	81					C	51221310	A	C	51221310	3	2	443	1	0	0	0	0	1	0	0	0	752	275	10	5	669	5	AP4E1	15	51221310	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	22784089	51221310	51310082	104	30544											
WDR72	256764	broad.mit.edu	37	chr15	54025336	54025336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagtgccactgcctgcaggGaagtcctcattttgggcgaa	9	9	13	10	1	1	1	1	0	0	1	2	3	2	2	3	2	3	1	3	2	2	2	rs267604260		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:54025336G>T	ENST00000396328.1	-	2	250	c.11C>A	c.(10-12)tCc>tAc	p.S4Y	WDR72_ENST00000360509.5_Missense_Mutation_p.S4Y|WDR72_ENST00000559418.1_Missense_Mutation_p.S4Y|WDR72_ENST00000557913.1_Missense_Mutation_p.S4Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	4										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)		TGCCTGCAGGGAAGTCCTCAT	0.473																																						ENST00000396328.1																			0				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						c.(10-12)tCc>tAc		WD repeat domain 72							76	70	72					15																	54025336		2194	4293	6487	SO:0001583	missense	256764							g.chr15:54025336G>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.11C>A	15.37:g.54025336G>T	ENSP00000379619:p.Ser4Tyr					WDR72_ENST00000559418.1_Missense_Mutation_p.S4Y|WDR72_ENST00000557913.1_Missense_Mutation_p.S4Y|WDR72_ENST00000360509.5_Missense_Mutation_p.S4Y	p.S4Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	2	250	-			4					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.11C>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913386	0.33815	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.37411	1.2;1.2	4.42	1.54	0.23209	.	0.313976	0.27302	N	0.019988	T	0.21590	0.0520	N	0.22421	0.69	0.09310	N	1	B	0.31054	0.306	B	0.31191	0.125	T	0.14254	-1.0479	10	0.46703	T	0.11	.	7.9398	0.29952	0.2878:0.0:0.7122:0.0	.	4	Q3MJ13	WDR72_HUMAN	Y	4	ENSP00000379619:S4Y;ENSP00000353699:S4Y	ENSP00000353699:S4Y	S	-	2	0	WDR72	51812628	0.168000	0.22989	0.024000	0.17045	0.506000	0.33950	1.875000	0.39578	0.632000	0.30432	-0.136000	0.14681	TCC		0.473	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		24	31	1	0	8.58068e-18	1	9.91546e-18	24	31					T	54025336	G	T	54025336	3	4	443	1	0	0	0	0	1	0	0	0	17319	1174	41	5	3373	5	WDR72	15	54025336	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	2804026	54025336	48506056	105	30545											
PTPN9	5780	broad.mit.edu	37	chr15	75819591	75819591	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttaatctcttcgagaaaCtgcttggtagcctgtttgac	8	16	9	8	1	1	2	0	1	1	1	3	3	1	2	1	1	3	4	1	1	3	6			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:75819591C>T	ENST00000306726.2	-	2	587	c.75G>A	c.(73-75)caG>caA	p.Q25Q	CTD-2323K18.1_ENST00000568707.1_RNA	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	25					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTCGAGAAACTGCTTGGTAG	0.393																																						ENST00000306726.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(73-75)caG>caA		protein tyrosine phosphatase, non-receptor type 9							99	86	91					15																	75819591		2197	4294	6491	SO:0001819	synonymous_variant	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75819591C>T		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.75G>A	15.37:g.75819591C>T						CTD-2323K18.1_ENST00000568707.1_RNA	p.Q25Q	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN			2	587	-			25					Q53XR9	Silent	SNP	ENST00000306726.2	37	c.75G>A	CCDS10280.1																																																																																				0.393	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			22	26	0	0	0	1	0	22	26					T	75819591	C	T	75819591	2	4	443	1	0	0	0	0	0	0	0	1	12794	564	20	3		3	PTPN9	15	75819591	Silent	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	21794255	75819591	26711801	106	30546											
IL16	3603	broad.mit.edu	37	chr15	81598853	81598853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagggctccctacacggaGacaagcctctcaccattaac	12	6	9	14	1	1	1	1	0	1	1	3	3	2	2	3	3	3	1	3	3	4	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:81598853G>A	ENST00000302987.4	+	17	3772	c.3772G>A	c.(3772-3774)Gac>Aac	p.D1258N	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.D557N|IL16_ENST00000394660.2_Missense_Mutation_p.D1257N			Q14005	IL16_HUMAN	interleukin 16	1258	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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						CCTACACGGAGACAAGCCTCT	0.577																																						ENST00000394660.2																			0				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						c.(3769-3771)Gac>Aac		interleukin 16							137	138	137					15																	81598853		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81598853G>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3772G>A	15.37:g.81598853G>A	ENSP00000302935:p.Asp1258Asn					IL16_ENST00000394652.2_Missense_Mutation_p.D557N|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000302987.4_Missense_Mutation_p.D1258N	p.D1257N	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			18	4129	+			1258			PDZ 4.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.3769G>A	CCDS42069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.724155|4.724155	0.89298|0.89298	.|.	.|.	ENSG00000172349|ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000394653;ENST00000394652|ENST00000394656	T;T;T|.	0.41065|.	1.01;1.01;1.01|.	4.09|4.09	4.09|4.09	0.47781|0.47781	PDZ/DHR/GLGF (4);|.	0.000000|.	0.46442|.	D|.	0.000285|.	T|T	0.61615|0.61615	0.2361|0.2361	L|L	0.37466|0.37466	1.105|1.105	0.80722|0.80722	D|D	1|1	D;D;D;P;P|.	0.89917|.	0.999;1.0;1.0;0.841;0.791|.	D;D;D;D;P|.	0.91635|.	0.999;0.999;0.996;0.923;0.874|.	T|T	0.67496|0.67496	-0.5656|-0.5656	10|6	0.44086|0.87932	T|D	0.13|0	.|.	16.8389|16.8389	0.85963|0.85963	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1089;750;647;1258;1257|.	F8W7Z5;Q6ZTT5;B3KY62;Q14005;Q14005-2|.	.;.;.;IL16_HUMAN;.|.	N|K	1257;1089;1258;647;557|555	ENSP00000378155:D1257N;ENSP00000302935:D1258N;ENSP00000378147:D557N|.	ENSP00000302935:D1258N|ENSP00000378151:R555K	D|R	+|+	1|2	0|0	IL16|IL16	79385908|79385908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.537000|0.537000	0.34900|0.34900	8.841000|8.841000	0.92131|0.92131	2.256000|2.256000	0.74724|0.74724	0.561000|0.561000	0.74099|0.74099	GAC|AGA		0.577	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		40	56	0	0	0	1	0	40	56					A	81598853	G	A	81598853	3	1	443	1	0	0	0	0	1	0	0	0	7633	942	33	3	3838	3	IL16	15	81598853	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	5779262	81598853	20932539	107	30547											
FES	2242	broad.mit.edu	37	chr15	91437015	91437015	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacaagtccccgtgaagtGgaccgcacctgaggccctta	10	6	11	14	2	0	3	0	2	0	1	1	4	1	4	5	2	0	1	5	2	3	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:91437015G>T	ENST00000328850.3	+	17	2319	c.2177G>T	c.(2176-2178)tGg>tTg	p.W726L	FES_ENST00000394300.3_Missense_Mutation_p.W668L|FES_ENST00000394302.1_Missense_Mutation_p.W585L|FES_ENST00000444422.2_Missense_Mutation_p.W656L|FES_ENST00000450438.2_Missense_Mutation_p.W598L|FES_ENST00000414248.2_Missense_Mutation_p.W598L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	726	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCCGTGAAGTGGACCGCACCT	0.617																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(2176-2178)tGg>tTg		feline sarcoma oncogene							65	73	70					15																	91437015		2198	4298	6496	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91437015G>T	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.2177G>T	15.37:g.91437015G>T	ENSP00000331504:p.Trp726Leu					FES_ENST00000444422.2_Missense_Mutation_p.W656L|FES_ENST00000450438.2_Missense_Mutation_p.W598L|FES_ENST00000394302.1_Missense_Mutation_p.W585L|FES_ENST00000394300.3_Missense_Mutation_p.W668L|FES_ENST00000414248.2_Missense_Mutation_p.W598L	p.W726L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		17	2319	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		726			Protein kinase.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.2177G>T	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364914	0.82463	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.37	5.37	0.77165	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89301	0.6676	H	0.98048	4.135	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0	D	0.93165	0.6561	10	0.87932	D	0	-26.3494	19.1664	0.93559	0.0:0.0:1.0:0.0	.	708;598;585;668;656;726	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	L	726;598;585;656;668;598	ENSP00000331504:W726L;ENSP00000414629:W598L;ENSP00000377839:W585L;ENSP00000400868:W656L;ENSP00000377837:W668L;ENSP00000409915:W598L	ENSP00000331504:W726L	W	+	2	0	FES	89238019	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	9.860000	0.99555	2.544000	0.85801	0.485000	0.47835	TGG		0.617	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		8	85	1	0	1.06961e-07	1	1.19185e-07	8	85					T	91437015	G	T	91437015	3	4	443	1	0	0	0	0	1	0	0	0	5820	1357	47	5	2239	5	FES	15	91437015	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	9838162	91437015	11094377	108	30548											
TRIM72	493829	broad.mit.edu	37	chr16	31234164	31234164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaggctgcagaagatcctgGcagagtctcccccacccgcc	8	5	10	18	1	1	3	0	0	1	3	3	3	2	3	6	2	1	3	6	2	1	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:31234164G>T	ENST00000322122.3	+	6	1041	c.757G>T	c.(757-759)Gca>Tca	p.A253S		NM_001008274.3	NP_001008275.2			tripartite motif containing 72, E3 ubiquitin protein ligase											breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GAAGATCCTGGCAGAGTCTCC	0.612																																						ENST00000322122.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						c.(757-759)Gca>Tca		tripartite motif containing 72							38	39	39					16																	31234164		2196	4300	6496	SO:0001583	missense	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31234164G>T	AK090695	CCDS32437.1	16p11.2	2014-02-10	2014-02-10					"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32671	protein-coding gene	gene with protein product	"mitsugumin 53"	613288	"tripartite motif-containing 72", "tripartite motif containing 72"			20399744, 23354051	Standard	NM_001008274		Approved	MG53	uc002ebn.2	Q6ZMU5		ENST00000322122.3:c.757G>T	16.37:g.31234164G>T	ENSP00000312675:p.Ala253Ser						p.A253S	NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN			6	1041	+			253						Missense_Mutation	SNP	ENST00000322122.3	37	c.757G>T	CCDS32437.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474754	0.26511	.	.	ENSG00000177238	ENST00000322122	T	0.62639	0.01	5.04	3.99	0.46301	.	0.632657	0.14521	N	0.314453	T	0.55178	0.1904	L	0.51422	1.61	0.29930	N	0.821953	B	0.02656	0.0	B	0.04013	0.001	T	0.50074	-0.8870	10	0.22109	T	0.4	.	12.8432	0.57815	0.0:0.0:0.7888:0.2112	.	253	Q6ZMU5	TRI72_HUMAN	S	253	ENSP00000312675:A253S	ENSP00000312675:A253S	A	+	1	0	TRIM72	31141665	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	2.033000	0.41136	0.877000	0.35895	0.561000	0.74099	GCA		0.612	TRIM72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433567.1	NM_001008274		3	25	1	0	0.115264	1	0.118297	3	25					T	31234164	G	T	31234164	3	4	443	1	0	0	0	0	1	0	0	0	16542	1203	42	5	775	5	TRIM72	16	31234164	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08		31234164	59120589	109	30549											
B3GNT9	80262	broad.mit.edu	37	chr16	67183601	67183601	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctagcccgcgtgcggatgGgccgcgcatgcacaattacg	7	7	14	13	6	0	0	0	0	0	0	0	1	0	1	2	2	5	3	2	2	3	2	rs376245125		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:67183601G>A	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Missense_Mutation_p.P263L	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											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)		CGTGCGGATGGGCCGCGCATG	0.657																																						ENST00000449549.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(787-789)cCc>cTc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9							13	15	15					16																	67183601		1995	4137	6132	SO:0001628	intergenic_variant	84752				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr16:67183601G>A	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67183601G>A							p.P263L	NM_033309.2	NP_171608.2	Q6UX72	B3GN9_HUMAN			2	1323	-			263					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.788C>T	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	g	24.4	4.525536	0.85600	.	.	ENSG00000237172	ENST00000449549	T	0.43688	0.94	5.02	4.04	0.47022	.	.	.	.	.	T	0.74366	0.3707	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82827	-0.0265	9	0.87932	D	0	-24.1261	13.8381	0.63421	0.0:0.1547:0.8453:0.0	.	263	Q6UX72	B3GN9_HUMAN	L	263	ENSP00000400157:P263L	ENSP00000400157:P263L	P	-	2	0	B3GNT9	65741102	1.000000	0.71417	0.983000	0.44433	0.686000	0.39977	9.861000	0.99562	1.054000	0.40438	0.556000	0.70494	CCC		0.657	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		4	15	0	0	0	1	0	4	15					A	67183601	G	A	67183601	1	1	443	0	1	0	0	0	0	0	0	0	1264	1232	43	3		3	B3GNT9	16	67183601	IGR	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	35949437	67183601	23171152	110	30550											
SF3B3	23450	broad.mit.edu	37	chr16	70589037	70589037	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagaaaacaattgtgaaGtgtgcagtgaaccagcgaca	17	6	12	6	1	0	3	0	2	0	1	0	5	0	4	1	1	4	1	1	1	6	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:70589037G>A	ENST00000302516.5	+	13	1849	c.1638G>A	c.(1636-1638)aaG>aaA	p.K546K		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	546					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CAATTGTGAAGTGTGCAGTGA	0.463																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(1636-1638)aaG>aaA		splicing factor 3b, subunit 3, 130kDa							241	230	234					16																	70589037		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70589037G>A	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1638G>A	16.37:g.70589037G>A							p.K546K	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			13	1849	+		Ovarian(137;0.0694)	546					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.1638G>A	CCDS10894.1																																																																																				0.463	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		67	49	0	0	0	1	0	67	49					A	70589037	G	A	70589037	2	1	443	1	0	0	0	0	0	0	0	1	14152	1020	36	3		3	SF3B3	16	70589037	Silent	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	3405436	70589037	19765716	111	30551											
FTSJD1	55783	broad.mit.edu	37	chr16	71318227	71318227	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcctaaacttggaatccaAattaaaagctcctcctaatg	14	11	6	10	0	0	0	0	0	0	0	3	1	3	1	4	2	2	1	4	2	7	4			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:71318227A>C	ENST00000338099.5	-	3	1933	c.1597T>G	c.(1597-1599)Ttg>Gtg	p.L533V	CMTR2_ENST00000434935.2_Missense_Mutation_p.L533V			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	533					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										TTGGAATCCAAATTAAAAGCT	0.343																																						ENST00000338099.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1597-1599)Ttg>Gtg									42	44	43					16																	71318227		2197	4298	6495	SO:0001583	missense	0					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71318227A>C	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"adrift homolog (Drosophila)"		"FtsJ methyltransferase domain containing 1"	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1597T>G	16.37:g.71318227A>C	ENSP00000337512:p.Leu533Val					FTSJD1_ENST00000434935.2_Missense_Mutation_p.L533V	p.L533V			Q8IYT2	FTSJ1_HUMAN			3	1933	-			533					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	c.1597T>G	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	A	1.665	-0.510570	0.04231	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.13901	2.55;2.55	5.22	2.89	0.33648	.	0.663600	0.14612	N	0.309000	T	0.05364	0.0142	N	0.08118	0	0.21553	N	0.999645	B	0.06786	0.001	B	0.04013	0.001	T	0.44360	-0.9333	10	0.08837	T	0.75	-30.5681	5.1567	0.15038	0.655:0.2484:0.0967:0.0	.	533	Q8IYT2	FTSJ1_HUMAN	V	533	ENSP00000337512:L533V;ENSP00000411148:L533V	ENSP00000337512:L533V	L	-	1	2	FTSJD1	69875728	0.016000	0.18221	0.998000	0.56505	0.821000	0.46438	0.049000	0.14099	0.406000	0.25560	0.459000	0.35465	TTG		0.343	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		33	19	0	0	0	1	0	33	19					C	71318227	A	C	71318227	3	2	443	1	0	0	0	0	1	0	0	0	6090	11	1	5	719	5	FTSJD1	16	71318227	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	729190	71318227	19036526	112	30552											
GAS8	2622	broad.mit.edu	37	chr16	90106851	90106851	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaagaaggaggtgcagttCaacgaggtcctggctgcctc	10	7	15	9	1	1	2	1	0	0	2	3	5	2	3	2	4	3	3	2	4	3	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:90106851C>G	ENST00000268699.4	+	9	1277	c.1155C>G	c.(1153-1155)ttC>ttG	p.F385L	GAS8_ENST00000536122.1_Missense_Mutation_p.F360L|GAS8_ENST00000540721.1_3'UTR|URAHP_ENST00000517889.1_RNA	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	385					cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		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)		AGGTGCAGTTCAACGAGGTCC	0.622																																						ENST00000268699.4																			0				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1153-1155)ttC>ttG		growth arrest-specific 8							72	61	65					16																	90106851		2198	4300	6498	SO:0001583	missense	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90106851C>G	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.1155C>G	16.37:g.90106851C>G	ENSP00000268699:p.Phe385Leu					GAS8_ENST00000536122.1_Missense_Mutation_p.F360L|GAS8_ENST00000540721.1_3'UTR|URAHP_ENST00000409873.1_Intron	p.F385L	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	9	1277	+		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)	385					B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.1155C>G	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	C	5.076	0.199612	0.09652	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721	T;T	0.18960	2.18;2.18	5.68	2.35	0.29111	.	0.345212	0.34725	N	0.003723	T	0.03178	0.0093	N	0.00114	-2.085	0.28390	N	0.919139	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37150	-0.9718	9	.	.	.	-7.5789	5.4659	0.16642	0.1133:0.6259:0.124:0.1367	.	356;385	B7Z1X3;O95995	.;GAS8_HUMAN	L	360;385;356	ENSP00000440977:F360L;ENSP00000268699:F385L	.	F	+	3	2	GAS8	88634352	0.999000	0.42202	0.991000	0.47740	0.816000	0.46133	0.837000	0.27558	0.727000	0.32360	0.650000	0.86243	TTC		0.622	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			14	2	0	0	0	1	0	14	2					G	90106851	C	G	90106851	3	3	443	1	0	0	0	0	1	0	0	0	6251	825	29	5	1189	5	GAS8	16	90106851	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	18788624	90106851	247902	113	30553											
DHRS7C	201140	broad.mit.edu	37	chr17	9676168	9676168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctcacggtgctgatgaCaacatcgtattcctccactt	8	11	9	13	3	1	2	1	2	0	0	4	2	3	2	2	2	2	3	2	2	2	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:9676168C>T	ENST00000330255.5	-	5	658	c.646G>A	c.(646-648)Gtc>Atc	p.V216I	DHRS7C_ENST00000571134.1_Missense_Mutation_p.V215I	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	216					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						GTGCTGATGACAACATCGTAT	0.567																																						ENST00000330255.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						c.(646-648)Gtc>Atc		dehydrogenase/reductase (SDR family) member 7C							73	79	77					17																	9676168		2201	4299	6500	SO:0001583	missense	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9676168C>T		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	32423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 2"					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.646G>A	17.37:g.9676168C>T	ENSP00000327975:p.Val216Ile					DHRS7C_ENST00000571134.1_Missense_Mutation_p.V215I	p.V216I	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN			5	658	-			216					B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	c.646G>A	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	C	5.718	0.316994	0.10845	.	.	ENSG00000184544	ENST00000330255	T	0.50813	0.73	4.99	2.97	0.34412	NAD(P)-binding domain (1);	0.632393	0.16099	N	0.229641	T	0.25269	0.0614	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.11767	-1.0574	10	0.32370	T	0.25	.	3.6021	0.08028	0.2666:0.5085:0.1412:0.0837	.	216;212	A6NNS2;B9EJH3	DRS7C_HUMAN;.	I	216	ENSP00000327975:V216I	ENSP00000327975:V216I	V	-	1	0	DHRS7C	9616893	0.030000	0.19436	0.021000	0.16686	0.177000	0.22998	1.486000	0.35530	0.679000	0.31345	0.561000	0.74099	GTC		0.567	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		15	2	0	0	0	1	0	15	2					T	9676168	C	T	9676168	3	4	443	1	0	0	0	0	1	0	0	0	4497	478	17	3	300	3	DHRS7C	17	9676168	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08		9676168	71519042	114	30554											
MYH2	4620	broad.mit.edu	37	chr17	10446277	10446277	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaaaacaactctagaCttctctagcagatctggaag	14	9	9	9	0	3	2	0	0	3	2	4	4	3	4	0	2	4	2	0	2	6	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:10446277C>T	ENST00000245503.5	-	10	1203	c.819G>A	c.(817-819)aaG>aaA	p.K273K	MYH2_ENST00000532183.2_Silent_p.K273K|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.K273K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	273	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAACTCTAGACTTCTCTAGCA	0.313																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(817-819)aaG>aaA		myosin, heavy chain 2, skeletal muscle, adult							46	48	48					17																	10446277		2202	4295	6497	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10446277C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.819G>A	17.37:g.10446277C>T						CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.K273K|MYH2_ENST00000532183.1_Silent_p.K273K	p.K273K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			10	1203	-			273			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.819G>A	CCDS11156.1																																																																																				0.313	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		3	19	0	0	0	1	0	3	19					T	10446277	C	T	10446277	2	4	443	1	0	0	0	0	0	0	0	1	10035	564	20	3		3	MYH2	17	10446277	Silent	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	770109	10446277	70748933	115	30555											
CDK12	51755	broad.mit.edu	37	chr17	37676290	37676290	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcacagctgaacagaccctAcagagcgacttccttaaaga	14	7	8	12	1	0	4	0	1	0	3	1	5	1	4	2	0	5	2	2	0	4	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:37676290A>G	ENST00000447079.4	+	11	3078	c.3045A>G	c.(3043-3045)ctA>ctG	p.L1015L	CDK12_ENST00000430627.2_Silent_p.L1015L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1015	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AACAGACCCTACAGAGCGACT	0.473			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(3043-3045)ctA>ctG		cyclin-dependent kinase 12							181	151	161					17																	37676290		2203	4300	6503	SO:0001819	synonymous_variant	51755				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	g.chr17:37676290A>G	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3045A>G	17.37:g.37676290A>G		TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Silent_p.L1015L	p.L1015L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			11	3078	+			1015			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	c.3045A>G	CCDS11337.1																																																																																				0.473	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		33	9	0	0	0	1	0	33	9					G	37676290	A	G	37676290	2	3	443	1	0	0	0	0	0	0	0	1	3128	378	14	4		4	CDK12	17	37676290	Silent	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	27230013	37676290	43518920	116	30556											
TUBG1	7283	broad.mit.edu	37	chr17	40765903	40765903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccagcaccaccaccctgCgctaccctggctacatgaac	10	5	7	19	1	0	1	0	1	0	0	0	1	0	1	5	1	6	3	5	1	3	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:40765903C>T	ENST00000251413.3	+	8	792	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	244					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	CACCACCCTGCGCTACCCTGG	0.612																																					Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(730-732)Cgc>Tgc		tubulin, gamma 1							237	179	199					17																	40765903		2203	4300	6503	SO:0001583	missense	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40765903C>T	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.730C>T	17.37:g.40765903C>T	ENSP00000251413:p.Arg244Cys						p.R244C	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	8	792	+		Breast(137;0.00116)	244					Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	c.730C>T	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636786	0.67130	.	.	ENSG00000131462	ENST00000251413	T	0.74632	-0.86	4.41	4.41	0.53225	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	D	0.88731	0.6516	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.90605	0.4547	10	0.87932	D	0	-9.1978	10.0929	0.42458	0.3177:0.6823:0.0:0.0	.	244	P23258	TBG1_HUMAN	C	244	ENSP00000251413:R244C	ENSP00000251413:R244C	R	+	1	0	TUBG1	38019429	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.977000	0.49297	2.321000	0.78463	0.650000	0.86243	CGC		0.612	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		3	25	0	0	0	1	0	3	25					T	40765903	C	T	40765903	3	4	443	1	0	0	0	0	1	0	0	0	16761	768	27	1	760	1	TUBG1	17	40765903	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	3089613	40765903	40429307	117	30557											
BRCA1	672	broad.mit.edu	37	chr17	41251796	41251796	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacctgagacccttacccaaTtcaatgtagacagacgtctt	13	10	6	12	1	2	3	1	1	1	3	2	4	2	3	3	0	2	1	3	0	5	4	rs397507250		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:41251796T>G	ENST00000357654.3	-	7	661	c.543A>C	c.(541-543)gaA>gaC	p.E181D	BRCA1_ENST00000471181.2_Missense_Mutation_p.E181D|BRCA1_ENST00000346315.3_Missense_Mutation_p.E181D|BRCA1_ENST00000468300.1_Missense_Mutation_p.E181D|BRCA1_ENST00000351666.3_Missense_Mutation_p.E181D|BRCA1_ENST00000354071.3_Missense_Mutation_p.E181D|BRCA1_ENST00000491747.2_Missense_Mutation_p.E181D|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.E181D|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000493795.1_Missense_Mutation_p.E134D	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	181					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTTACCCAATTCAATGTAGA	0.378			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000357654.3			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 1			E		"breast, ovarian"	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(541-543)gaA>gaC	Homologous recombination	breast cancer 1, early onset							129	126	127					17																	41251796		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		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	g.chr17:41251796T>G	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.543A>C	17.37:g.41251796T>G	ENSP00000350283:p.Glu181Asp	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000354071.3_Missense_Mutation_p.E181D|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.E181D|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.E134D|BRCA1_ENST00000468300.1_Missense_Mutation_p.E181D|BRCA1_ENST00000491747.2_Missense_Mutation_p.E181D|BRCA1_ENST00000346315.3_Missense_Mutation_p.E181D|BRCA1_ENST00000352993.3_Missense_Mutation_p.E181D|BRCA1_ENST00000351666.3_Missense_Mutation_p.E181D|BRCA1_ENST00000309486.4_5'UTR	p.E181D	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	7	661	-		Breast(137;0.000717)	181					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.543A>C	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.47|10.47	1.358064|1.358064	0.24598|0.24598	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919;ENST00000487825;ENST00000470026;ENST00000477152;ENST00000494123;ENST00000476777|ENST00000473961	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.98028|.	-2.67;-2.74;-2.6;-2.72;-2.39;-2.48;-3.05;-2.67;-2.8;-2.32;-2.05;-2.63;-1.93;-3.19;-4.67;-2.87;-2.37|.	5.16|5.16	-1.03|-1.03	0.10102|0.10102	.|.	0.240850|.	0.30109|.	N|.	0.010381|.	T|T	0.37598|0.37598	0.1009|0.1009	L|L	0.35723|0.35723	1.085|1.085	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B;B;B;B;B;B|.	0.33103|.	0.355;0.397;0.274;0.016;0.016;0.016;0.394;0.274;0.016;0.001;0.004|.	B;B;B;B;B;B;B;B;B;B;B|.	0.33690|.	0.1;0.121;0.081;0.012;0.019;0.012;0.168;0.056;0.012;0.002;0.011|.	T|T	0.20806|0.20806	-1.0264|-1.0264	10|5	0.59425|.	D|.	0.04|.	.|.	1.0776|1.0776	0.01636|0.01636	0.1458:0.1666:0.3023:0.3852|0.1458:0.1666:0.3023:0.3852	.|.	180;134;180;181;181;181;181;181;181;181;181|.	E7EUM2;B4DES0;E7ETR2;E7EMP0;E7ERL4;Q5YLB2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2|.	.;.;.;.;.;.;.;.;.;BRCA1_HUMAN;.|.	D|T	181;181;181;181;181;181;181;134;181;134;180;180;96;134;97;181;155;181;180|88	ENSP00000350283:E181D;ENSP00000326002:E181D;ENSP00000312236:E181D;ENSP00000246907:E181D;ENSP00000338007:E181D;ENSP00000417148:E181D;ENSP00000377294:E134D;ENSP00000418960:E181D;ENSP00000418775:E134D;ENSP00000420412:E180D;ENSP00000419481:E96D;ENSP00000418819:E134D;ENSP00000418212:E97D;ENSP00000419274:E181D;ENSP00000419988:E155D;ENSP00000419103:E181D;ENSP00000417554:E180D|.	ENSP00000246907:E181D|.	E|N	-|-	3|2	2|0	BRCA1|BRCA1	38505322|38505322	0.696000|0.696000	0.27757|0.27757	0.243000|0.243000	0.24186|0.24186	0.240000|0.240000	0.25518|0.25518	0.114000|0.114000	0.15520|0.15520	-0.095000|-0.095000	0.12351|0.12351	-0.389000|-0.389000	0.06534|0.06534	GAA|AAT		0.378	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		140	105	0	0	0	1	0	140	105					G	41251796	T	G	41251796	3	3	443	1	0	0	0	0	1	0	0	0	1498	1490	52	5	5186	5	BRCA1	17	41251796	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	485893	41251796	39943414	118	30558											
OR4D2	124538	broad.mit.edu	37	chr17	56247778	56247778	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatgatcttcgttccaagCatttacctctatgcccggcc	7	13	6	15	2	2	1	0	1	2	0	5	1	4	1	5	1	3	2	5	1	3	5			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:56247778C>A	ENST00000545221.1	+	1	762	c.762C>A	c.(760-762)agC>agA	p.S254R		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TCGTTCCAAGCATTTACCTCT	0.537																																						ENST00000545221.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						c.(760-762)agC>agA		olfactory receptor, family 4, subfamily D, member 2							184	136	152					17																	56247778		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247778C>A		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.762C>A	17.37:g.56247778C>A	ENSP00000441354:p.Ser254Arg						p.S254R	NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN			1	762	+			254					Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.762C>A	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531952	0.27387	.	.	ENSG00000255713	ENST00000545221	T	0.00099	8.73	5.71	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.091972	0.47852	D	0.000219	T	0.00300	0.0009	M	0.62088	1.915	0.29298	N	0.868863	D	0.60160	0.987	P	0.62740	0.906	T	0.43015	-0.9417	10	0.87932	D	0	-27.5663	7.1663	0.25693	0.0:0.5095:0.0:0.4905	.	254	P58180	OR4D2_HUMAN	R	254	ENSP00000441354:S254R	ENSP00000441354:S254R	S	+	3	2	OR4D2	53602777	0.373000	0.25073	1.000000	0.80357	0.068000	0.16541	-0.266000	0.08631	0.377000	0.24735	-0.192000	0.12808	AGC		0.537	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			33	3	1	0	9.17885e-22	1	1.08477e-21	33	3					A	56247778	C	A	56247778	3	1	443	1	0	0	0	0	1	0	0	0	11056	709	25	5	764	5	OR4D2	17	56247778	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	14995982	56247778	24947432	119	30559											
SDK2	54549	broad.mit.edu	37	chr17	71391322	71391322	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggtcctgcccaccaccgtCtggctccagggcccgctccc	3	6	11	21	3	1	0	0	0	1	0	4	0	4	0	7	3	1	2	7	3	0	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:71391322C>G	ENST00000392650.3	-	25	3564	c.3564G>C	c.(3562-3564)caG>caC	p.Q1188H	SDK2_ENST00000388726.3_Missense_Mutation_p.Q1188H	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1188	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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						CCACCACCGTCTGGCTCCAGG	0.657																																						ENST00000392650.3																			0				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						c.(3562-3564)caG>caC		sidekick cell adhesion molecule 2							45	31	36					17																	71391322		2202	4300	6502	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71391322C>G	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3564G>C	17.37:g.71391322C>G	ENSP00000376421:p.Gln1188His					SDK2_ENST00000388726.3_Missense_Mutation_p.Q1188H	p.Q1188H	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			25	3564	-			1188			Fibronectin type-III 6.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.3564G>C	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.488383	0.26686	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.54675	0.56;0.56;0.56	5.32	2.25	0.28309	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.251813	0.41097	N	0.000941	T	0.34687	0.0906	L	0.35414	1.06	0.09310	N	0.999998	B;B;B	0.13145	0.007;0.002;0.003	B;B;B	0.12156	0.007;0.003;0.007	T	0.18871	-1.0323	10	0.42905	T	0.14	.	3.4658	0.07549	0.121:0.4737:0.261:0.1444	.	1188;1188;1188	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	H	812;1188;1188;364;1188	ENSP00000376421:Q1188H;ENSP00000373378:Q1188H;ENSP00000407098:Q364H	ENSP00000324967:Q1188H	Q	-	3	2	SDK2	68902917	0.000000	0.05858	0.029000	0.17559	0.982000	0.71751	-0.311000	0.08124	0.249000	0.21456	0.561000	0.74099	CAG		0.657	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		7	18	0	0	0	1	0	7	18					G	71391322	C	G	71391322	3	3	443	1	0	0	0	0	1	0	0	0	13969	912	32	5	3038	5	SDK2	17	71391322	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	15143544	71391322	9803888	120	30560											
UNC13D	201294	broad.mit.edu	37	chr17	73829083	73829083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaccaagttggtgttcatgTagcaaagctccacctccagg	10	9	10	12	0	1	0	1	0	0	0	3	0	3	0	4	2	2	6	4	2	3	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:73829083T>C	ENST00000207549.4	-	25	2790	c.2411A>G	c.(2410-2412)tAc>tGc	p.Y804C	UNC13D_ENST00000412096.2_Missense_Mutation_p.Y804C	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	804	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGTGTTCATGTAGCAAAGCTC	0.647									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2410-2412)tAc>tGc		unc-13 homolog D (C. elegans)							59	50	53					17																	73829083		2201	4297	6498	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73829083T>C	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.2411A>G	17.37:g.73829083T>C	ENSP00000207549:p.Tyr804Cys					UNC13D_ENST00000412096.2_Missense_Mutation_p.Y804C	p.Y804C	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	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)		25	2790	-			804			MHD2.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.2411A>G	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.350485	0.82132	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.74002	-0.8;-0.8	4.7	4.7	0.59300	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.000000	0.64402	D	0.000002	D	0.83390	0.5244	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.84084	0.0386	10	0.51188	T	0.08	-5.1989	12.1527	0.54059	0.0:0.0:0.0:1.0	.	804;804	Q70J99-3;Q70J99	.;UN13D_HUMAN	C	804	ENSP00000207549:Y804C;ENSP00000388093:Y804C	ENSP00000207549:Y804C	Y	-	2	0	UNC13D	71340678	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.916000	0.75776	1.957000	0.56846	0.454000	0.30748	TAC		0.647	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		5	3	0	0	0	1	0	5	3					C	73829083	T	C	73829083	3	2	443	1	0	0	0	0	1	0	0	0	16984	1638	57	4	893	4	UNC13D	17	73829083	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	2437761	73829083	7366127	121	30561											
ZNF556	80032	broad.mit.edu	37	chr19	2877442	2877442	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacccattcctcatccctGataaggcacaaaagagctca	13	9	5	14	0	3	2	3	1	0	1	5	2	5	2	3	1	1	2	3	1	3	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:2877442G>A	ENST00000307635.2	+	4	573	c.486G>A	c.(484-486)ctG>ctA	p.L162L	ZNF556_ENST00000586426.1_Silent_p.L161L	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCATCCCTGATAAGGCACA	0.428																																						ENST00000586426.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(481-483)ctG>ctA		zinc finger protein 556							118	111	113					19																	2877442		2203	4300	6503	SO:0001819	synonymous_variant	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877442G>A	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"Zinc fingers, C2H2-type", "-"	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.486G>A	19.37:g.2877442G>A						ZNF556_ENST00000307635.2_Silent_p.L162L	p.L161L			Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	570	+			162					Q96GM3	Silent	SNP	ENST00000307635.2	37	c.483G>A	CCDS12097.1																																																																																				0.428	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		40	51	0	0	0	1	0	40	51					A	2877442	G	A	2877442	2	1	443	1	0	0	0	0	0	0	0	1	17984	1277	45	3		3	ZNF556	19	2877442	Silent	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08		2877442	56251541	122	30562											
PIK3R2	5296	broad.mit.edu	37	chr19	18273222	18273222	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggatgttcccacagggagGaggtgaacgagaaactccgg	11	7	15	8	2	0	2	0	1	0	1	2	6	2	5	2	5	2	1	2	5	2	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:18273222G>T	ENST00000593731.1	+	9	1575	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	PIK3R2_ENST00000222254.8_Nonsense_Mutation_p.E339*			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	339	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	CCACAGGGAGGAGGTGAACGA	0.617																																						ENST00000593731.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(1015-1017)Gag>Tag		phosphoinositide-3-kinase, regulatory subunit 2 (beta)							47	39	42					19																	18273222		2203	4300	6503	SO:0001587	stop_gained	5296				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	g.chr19:18273222G>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1015G>T	19.37:g.18273222G>T	ENSP00000471914:p.Glu339*					PIK3R2_ENST00000222254.7_Nonsense_Mutation_p.E339*	p.E339*			O00459	P85B_HUMAN			9	1575	+			339			SH2 1.		Q5EAT5|Q9UPH9	Nonsense_Mutation	SNP	ENST00000593731.1	37	c.1015G>T	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	G	44	11.035562	0.99506	.	.	ENSG00000105647	ENST00000222254	.	.	.	4.32	4.32	0.51571	.	0.115488	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.3198	16.178	0.81874	0.0:0.0:1.0:0.0	.	.	.	.	X	339	.	ENSP00000222254:E339X	E	+	1	0	PIK3R2	18134222	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.626000	0.98410	2.143000	0.66587	0.491000	0.48974	GAG		0.617	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		13	19	1	0	0.000151284	1	0.000159462	13	19					T	18273222	G	T	18273222	4	4	443	1	0	0	0	0	0	1	0	0	11919	1175	41	5	1045	5	PIK3R2	19	18273222	Nonsense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	15395780	18273222	40855761	123	30563											
GIPR	2696	broad.mit.edu	37	chr19	46184863	46184863	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgcgcctcctctgggcaggGcttcctggtcagcgtcctct	2	10	12	17	3	3	0	1	0	2	0	6	0	6	0	5	3	1	2	5	3	0	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:46184863G>T	ENST00000590918.1	+	13	1253	c.1154G>T	c.(1153-1155)gGc>gTc	p.G385V	GIPR_ENST00000263281.3_Splice_Site_p.G385V|GIPR_ENST00000304207.8_Splice_Site_p.G349V	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	385					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TCTGGGCAGGGCTTCCTGGTC	0.652																																						ENST00000590918.1																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12						c.e13-1		gastric inhibitory polypeptide receptor							31	36	35					19																	46184863		2202	4300	6502	SO:0001630	splice_region_variant	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46184863G>T		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"GPCR / Class B : Glucagon receptors"	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.1153-1G>T	19.37:g.46184863G>T						GIPR_ENST00000304207.8_Splice_Site_p.G349_splice|GIPR_ENST00000263281.3_Splice_Site_p.G385_splice	p.G385_splice	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	13	1253	+		Ovarian(192;0.051)|all_neural(266;0.112)	385					B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Splice_Site	SNP	ENST00000590918.1	37	c.1152_splice	CCDS12671.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.629076	0.87560	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	D;D	0.84660	-1.88;-1.88	4.81	4.81	0.61882	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.000000	0.49916	D	0.000121	D	0.93818	0.8023	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94879	0.8037	10	0.87932	D	0	.	13.2605	0.60102	0.0:0.0:1.0:0.0	.	349;385;385	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	V	385;349	ENSP00000263281:G385V;ENSP00000305321:G349V	ENSP00000263281:G385V	G	+	2	0	GIPR	50876703	1.000000	0.71417	0.997000	0.53966	0.883000	0.51084	8.966000	0.93397	2.497000	0.84241	0.561000	0.74099	GGC		0.652	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1		Missense_Mutation	4	23	1	0	3.59834e-05	1	3.81864e-05	4	23					T	46184863	G	T	46184863	5	4	443	1	0	0	0	0	0	0	1	0	6395	1217	42	5	1200	5	GIPR	19	46184863	Splice_Site	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	27911641	46184863	12944120	124	30564											
ZC3H4	23211	broad.mit.edu	37	chr19	47593282	47593282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttcagctctttggtgaaGtcgtcatagtcctccttgcc	5	15	10	11	1	3	1	2	1	1	0	6	1	5	1	3	2	2	2	3	2	2	4			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:47593282G>T	ENST00000253048.5	-	5	694	c.657C>A	c.(655-657)gaC>gaA	p.D219E	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	219							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)		CTTTGGTGAAGTCGTCATAGT	0.582																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(655-657)gaC>gaA		zinc finger CCCH-type containing 4							134	136	135					19																	47593282		2158	4247	6405	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47593282G>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.657C>A	19.37:g.47593282G>T	ENSP00000253048:p.Asp219Glu					ZC3H4_ENST00000594019.1_5'UTR	p.D219E	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	5	694	-		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)	219					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.657C>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007743	0.54361	.	.	ENSG00000130749	ENST00000253048	T	0.27557	1.66	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.68317	2.08	0.58432	D	0.999999	D	0.76494	0.999	D	0.78314	0.991	T	0.43653	-0.9378	10	0.38643	T	0.18	.	12.7607	0.57363	0.0788:0.0:0.9212:0.0	.	219	Q9UPT8	ZC3H4_HUMAN	E	219	ENSP00000253048:D219E	ENSP00000253048:D219E	D	-	3	2	ZC3H4	52285122	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	5.270000	0.65547	2.710000	0.92621	0.655000	0.94253	GAC		0.582	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			18	23	1	0	3.32936e-07	1	3.65761e-07	18	23					T	47593282	G	T	47593282	3	4	443	1	0	0	0	0	1	0	0	0	17567	1020	36	5	3298	5	ZC3H4	19	47593282	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	1408419	47593282	11535701	125	30565											
PLCB4	5332	broad.mit.edu	37	chr20	9416222	9416222	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctagatatcgtggatgcttTatcagatccaaagaaatttc	13	13	7	8	1	1	3	1	0	0	3	4	4	2	4	2	1	1	1	2	1	5	5			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr20:9416222T>G	ENST00000378493.1	+	25	2519	c.2504T>G	c.(2503-2505)tTa>tGa	p.L835*	PLCB4_ENST00000414679.2_Nonsense_Mutation_p.L847*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.L847*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Nonsense_Mutation_p.L835*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.L835*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.L835*			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	835					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			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						GTGGATGCTTTATCAGATCCA	0.338																																						ENST00000378501.2																			0				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						c.(2503-2505)tTa>tGa		phospholipase C, beta 4							89	96	94					20																	9416222		2203	4300	6503	SO:0001587	stop_gained	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9416222T>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2504T>G	20.37:g.9416222T>G	ENSP00000367754:p.Leu835*					PLCB4_ENST00000378473.3_Nonsense_Mutation_p.L847*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.L835*|PLCB4_ENST00000378493.1_Nonsense_Mutation_p.L835*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.L835*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.L847*	p.L835*	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			25	2519	+			835					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Nonsense_Mutation	SNP	ENST00000378493.1	37	c.2504T>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	T	44	10.546566	0.99425	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4781	0.84144	0.0:0.0:0.0:1.0	.	.	.	.	X	835;847;835;835;835;683	.	ENSP00000278655:L835X	L	+	2	0	PLCB4	9364222	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.513000	0.81739	2.288000	0.76882	0.528000	0.53228	TTA		0.338	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			14	27	0	0	0	1	0	14	27					G	9416222	T	G	9416222	4	3	443	1	0	0	0	0	0	1	0	0	12030	1764	61	5	2642	5	PLCB4	20	9416222	Nonsense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08		9416222	53609298	126	30566											
ACSS2	55902	broad.mit.edu	37	chr20	33509154	33509154	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catagccgggcatccttgcaGgtgttaggcacagtgggtga	8	9	15	9	1	0	1	0	1	0	0	1	1	1	1	2	4	2	4	2	4	2	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr20:33509154G>T	ENST00000360596.2	+	11	1510	c.1299G>T	c.(1297-1299)caG>caT	p.Q433H	ACSS2_ENST00000253382.5_Missense_Mutation_p.Q446H|ACSS2_ENST00000336325.4_Missense_Mutation_p.Q383H|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	433					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CATCCTTGCAGGTGTTAGGCA	0.602																																						ENST00000360596.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21						c.(1297-1299)caG>caT		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						68	70	70					20																	33509154		2203	4300	6503	SO:0001583	missense	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33509154G>T	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"Acyl-CoA synthetase family"	15814	protein-coding gene	gene with protein product		605832	"acetyl-Coenzyme A synthetase 2 (ADP forming)"	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1299G>T	20.37:g.33509154G>T	ENSP00000353804:p.Gln433His					ACSS2_ENST00000253382.5_Missense_Mutation_p.Q446H|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.Q383H	p.Q433H	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN			11	1510	+			433					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	c.1299G>T	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937453	0.73557	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.41758	0.99;0.99;0.99	5.52	5.52	0.82312	AMP-dependent synthetase/ligase (1);	0.207904	0.48767	D	0.000163	T	0.44329	0.1288	N	0.21282	0.65	0.48135	D	0.999594	P;P	0.37176	0.586;0.586	P;P	0.46419	0.516;0.516	T	0.43861	-0.9365	10	0.87932	D	0	-13.4273	19.6361	0.95733	0.0:0.0:1.0:0.0	.	446;433	Q5QPH3;Q9NR19	.;ACSA_HUMAN	H	383;433;431;141;446	ENSP00000337190:Q383H;ENSP00000353804:Q433H;ENSP00000253382:Q446H	ENSP00000253382:Q446H	Q	+	3	2	ACSS2	32972815	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.250000	0.43178	2.878000	0.98634	0.650000	0.86243	CAG		0.602	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		7	64	1	0	3.09899e-07	1	3.42866e-07	7	64					T	33509154	G	T	33509154	3	4	443	1	0	0	0	0	1	0	0	0	189	991	35	5	1384	5	ACSS2	20	33509154	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	24092932	33509154	29516366	127	30567											
CEP250	11190	broad.mit.edu	37	chr20	34099346	34099346	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctgaggccactgtccTggaggcagagacccgcaggc	7	4	15	15	1	0	2	0	1	0	1	1	4	1	3	5	5	0	2	5	5	0	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr20:34099346T>A	ENST00000397527.1	+	35	7940	c.7220T>A	c.(7219-7221)cTg>cAg	p.L2407Q	CEP250_ENST00000342580.4_Missense_Mutation_p.L2351Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2407					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCCACTGTCCTGGAGGCAGAG	0.647																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(7219-7221)cTg>cAg		centrosomal protein 250kDa							49	48	48					20																	34099346		2203	4300	6503	SO:0001583	missense	11190				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	g.chr20:34099346T>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.7220T>A	20.37:g.34099346T>A	ENSP00000380661:p.Leu2407Gln					CEP250_ENST00000342580.4_Missense_Mutation_p.L2351Q	p.L2407Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		35	7940	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2407					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.7220T>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946986	0.73672	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.77877	0.49;0.41;-1.13	4.75	4.75	0.60458	.	0.000000	0.41097	D	0.000952	D	0.87481	0.6188	M	0.77616	2.38	0.38556	D	0.94957	D	0.89917	1.0	D	0.91635	0.999	D	0.90263	0.4302	10	0.87932	D	0	.	14.0853	0.64951	0.0:0.0:0.0:1.0	.	2407	Q9BV73	CP250_HUMAN	Q	2407;2351;842	ENSP00000380661:L2407Q;ENSP00000341541:L2351Q;ENSP00000395992:L842Q	ENSP00000341541:L2351Q	L	+	2	0	CEP250	33562760	1.000000	0.71417	0.991000	0.47740	0.929000	0.56500	5.286000	0.65639	2.006000	0.58801	0.459000	0.35465	CTG		0.647	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		3	41	0	0	0	1	0	3	41					A	34099346	T	A	34099346	3	1	443	1	0	0	0	0	1	0	0	0	3252	1580	55	5	7346	5	CEP250	20	34099346	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	590192	34099346	28926174	128	30568											
NFATC2	4773	broad.mit.edu	37	chr20	50140068	50140068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggaggccggacggggcaCgggcgagtggcggcccaggc	5	1	23	12	6	0	0	0	0	0	0	0	3	0	2	2	9	0	1	2	9	0	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr20:50140068C>T	ENST00000396009.3	-	2	931	c.712G>A	c.(712-714)Gtg>Atg	p.V238M	NFATC2_ENST00000609943.1_Missense_Mutation_p.V218M|NFATC2_ENST00000414705.1_Missense_Mutation_p.V218M|NFATC2_ENST00000371564.3_Missense_Mutation_p.V238M|NFATC2_ENST00000609507.1_Missense_Mutation_p.V19M|NFATC2_ENST00000610033.1_Missense_Mutation_p.V19M	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	238	3 X approximate SP repeats.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V238L(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGACGGGGCACGGGCGAGTGG	0.667																																						ENST00000371564.3																		EWSR1/NFATC2(9)	1	Substitution - Missense(1)	p.V238L(1)	lung(1)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(712-714)Gtg>Atg		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							37	45	42					20																	50140068		2174	4261	6435	SO:0001583	missense	4773				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	g.chr20:50140068C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.712G>A	20.37:g.50140068C>T	ENSP00000379330:p.Val238Met					NFATC2_ENST00000414705.1_Missense_Mutation_p.V218M|NFATC2_ENST00000396009.3_Missense_Mutation_p.V238M	p.V238M	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			2	931	-	Hepatocellular(150;0.248)		238			3 X approximate SP repeats.		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.712G>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596821	0.66332	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.80393	-1.37;-1.37;-1.37	5.58	4.58	0.56647	.	0.334456	0.32244	N	0.006366	T	0.69797	0.3151	L	0.29908	0.895	0.29337	N	0.86632	P;P;P;P	0.50819	0.939;0.919;0.919;0.834	B;B;B;B	0.41646	0.34;0.34;0.362;0.362	T	0.70733	-0.4791	10	0.54805	T	0.06	-10.5257	11.1298	0.48341	0.407:0.593:0.0:0.0	.	218;218;238;238	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	M	238;238;19;218	ENSP00000360619:V238M;ENSP00000379330:V238M;ENSP00000396471:V218M	ENSP00000360619:V238M	V	-	1	0	NFATC2	49573475	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.977000	0.63792	2.626000	0.88956	0.313000	0.20887	GTG		0.667	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		41	79	0	0	0	1	0	41	79					T	50140068	C	T	50140068	3	4	443	1	0	0	0	0	1	0	0	0	10362	536	19	1	2149	1	NFATC2	20	50140068	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	16040722	50140068	12885452	129	30569											
KRTAP21-1	337977	broad.mit.edu	37	chr21	32127655	32127655	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatagccacagccacagccGgagccatagccacaggagtt	12	4	10	15	1	0	0	0	0	0	0	0	2	0	2	6	2	5	1	6	2	2	3	rs528918166		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr21:32127655G>T	ENST00000335093.3	-	1	91	c.42C>A	c.(40-42)tcC>tcA	p.S14S		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	14						intermediate filament (GO:0005882)				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						agccacagccggagccatagc	0.532																																						ENST00000335093.3																			0				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						c.(40-42)tcC>tcA		keratin associated protein 21-1							124	116	118					21																	32127655		2203	4300	6503	SO:0001819	synonymous_variant	337977					intermediate filament		g.chr21:32127655G>T	AP001709	CCDS13606.1	21q22.1	2006-03-13			ENSG00000187005	ENSG00000187005		"Keratin associated proteins"	18945	protein-coding gene	gene with protein product						12359730	Standard	NM_181619		Approved	KAP21.1	uc011adi.2	Q3LI58	OTTHUMG00000057777	ENST00000335093.3:c.42C>A	21.37:g.32127655G>T							p.S14S	NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN			1	91	-			14						Silent	SNP	ENST00000335093.3	37	c.42C>A	CCDS13606.1																																																																																				0.532	KRTAP21-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128229.2			4	114	1	0	2.56e-06	1	2.75421e-06	4	114					T	32127655	G	T	32127655	2	4	443	1	0	0	0	0	0	0	0	1	8538	1103	39	5		5	KRTAP21-1	21	32127655	Silent	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08		32127655	16002240	130	30570											
MLC1	23209	broad.mit.edu	37	chr22	50500057	50500057	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctccaggctttctccttGtcgaactccttcagggggct	4	13	10	14	1	3	0	1	0	2	0	7	1	4	0	3	3	1	3	3	3	1	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr22:50500057G>A	ENST00000311597.5	-	12	1695	c.1089C>T	c.(1087-1089)gaC>gaT	p.D363D	MLC1_ENST00000450140.2_Silent_p.D311D|MLC1_ENST00000395876.2_Silent_p.D363D|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000538737.1_Silent_p.D329D|MLC1_ENST00000431262.2_Silent_p.D333D|MLC1_ENST00000535444.1_Silent_p.D284D	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	363					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CTTTCTCCTTGTCGAACTCCT	0.642																																						ENST00000311597.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18						c.(1087-1089)gaC>gaT		megalencephalic leukoencephalopathy with subcortical cysts 1							60	57	58					22																	50500057		2203	4300	6503	SO:0001819	synonymous_variant	23209					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50500057G>A	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.1089C>T	22.37:g.50500057G>A						MLC1_ENST00000450140.2_Silent_p.D311D|MLC1_ENST00000395876.2_Silent_p.D363D|MLC1_ENST00000431262.2_Silent_p.D333D|MLC1_ENST00000535444.1_Silent_p.D284D|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000538737.1_Silent_p.D329D	p.D363D	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)	12	1695	-		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)	363					B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Silent	SNP	ENST00000311597.5	37	c.1089C>T	CCDS14083.1																																																																																				0.642	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		25	25	0	0	0	1	0	25	25					A	50500057	G	A	50500057	2	1	443	1	0	0	0	0	0	0	0	1	9612	1368	48	3		3	MLC1	22	50500057	Silent	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08		50500057	804509	131	30571											
YIPF6	286451	broad.mit.edu	37	chrX	67731784	67731784	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcatccgggagtttgacAgctccacattaaatgaatct	11	11	8	11	2	1	2	0	2	1	0	4	3	3	3	2	1	1	3	2	1	3	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:67731784A>T	ENST00000462683.1	+	2	895	c.151A>T	c.(151-153)Agc>Tgc	p.S51C	YIPF6_ENST00000374622.2_Intron|YIPF6_ENST00000470730.1_3'UTR	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	51					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						GGAGTTTGACAGCTCCACATT	0.408																																						ENST00000462683.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						c.(151-153)Agc>Tgc		Yip1 domain family, member 6							153	132	139					X																	67731784		2203	4300	6503	SO:0001583	missense	286451					endoplasmic reticulum|integral to membrane		g.chrX:67731784A>T	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"Yip1 domain family"	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.151A>T	X.37:g.67731784A>T	ENSP00000417573:p.Ser51Cys					YIPF6_ENST00000374622.2_Intron|YIPF6_ENST00000470730.1_3'UTR	p.S51C	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN			2	895	+			51					B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	ENST00000462683.1	37	c.151A>T	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843631	0.51164	.	.	ENSG00000181704	ENST00000462683	T	0.45668	0.89	5.66	4.45	0.53987	.	0.498482	0.25294	N	0.031705	T	0.25232	0.0613	L	0.36672	1.1	0.80722	D	1	P	0.35077	0.483	B	0.25506	0.061	T	0.11494	-1.0585	10	0.41790	T	0.15	-0.0485	4.4136	0.11445	0.5896:0.1612:0.0:0.2492	.	51	Q96EC8	YIPF6_HUMAN	C	51	ENSP00000417573:S51C	ENSP00000417573:S51C	S	+	1	0	YIPF6	67648509	0.994000	0.37717	0.998000	0.56505	0.925000	0.55904	1.748000	0.38308	1.921000	0.55644	0.427000	0.28365	AGC		0.408	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834		99	4	0	0	0	1	0	99	4					T	67731784	A	T	67731784	3	4	443	1	0	0	0	0	1	0	0	0	17479	188	7	5	157	5	YIPF6	23	67731784	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08		67731784	87538776	132	30572											
XPNPEP2	7512	broad.mit.edu	37	chrX	128894500	128894500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcaggaggcatacaccCgtgtgctgataggaaatatt	12	9	10	10	1	1	1	1	1	0	0	1	3	1	3	2	3	2	2	2	3	4	4			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:128894500C>T	ENST00000371106.3	+	16	1633	c.1441C>T	c.(1441-1443)Cgt>Tgt	p.R481C		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	481						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GGCATACACCCGTGTGCTGAT	0.552																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(1441-1443)Cgt>Tgt		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							297	258	271					X																	128894500		2203	4300	6503	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128894500C>T	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1441C>T	X.37:g.128894500C>T	ENSP00000360147:p.Arg481Cys						p.R481C	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN			16	1633	+			481					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.1441C>T	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785108	0.31593	.	.	ENSG00000122121	ENST00000371106	T	0.76968	-1.06	5.25	4.3	0.51218	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.88314	0.6403	M	0.89353	3.025	0.30474	N	0.773055	D	0.89917	1.0	D	0.74674	0.984	D	0.86285	0.1670	10	0.42905	T	0.14	-13.6366	12.6804	0.56918	0.1775:0.8225:0.0:0.0	.	481	O43895	XPP2_HUMAN	C	481	ENSP00000360147:R481C	ENSP00000360147:R481C	R	+	1	0	XPNPEP2	128722181	0.952000	0.32445	0.251000	0.24312	0.160000	0.22226	1.965000	0.40471	2.178000	0.69098	0.513000	0.50165	CGT		0.552	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		129	166	0	0	0	1	0	129	166					T	128894500	C	T	128894500	3	4	443	1	0	0	0	0	1	0	0	0	17440	652	23	2	1503	2	XPNPEP2	23	128894500	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	61162716	128894500	26376060	133	30573											
ELF4	2000	broad.mit.edu	37	chrX	129200819	129200819	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctaggctcagccatcagcagGgaccctgagcctgaggagag	10	5	14	12	0	2	3	2	2	0	1	2	5	2	4	3	3	3	2	3	3	1	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:129200819G>A	ENST00000308167.5	-	9	2248	c.1869C>T	c.(1867-1869)tcC>tcT	p.S623S	ELF4_ENST00000335997.7_Silent_p.S623S	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCATCAGCAGGGACCCTGAGC	0.592			T	ERG	AML																																	ENST00000308167.5				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1867-1869)tcC>tcT		E74-like factor 4 (ets domain transcription factor)							79	88	85					X																	129200819		2203	4300	6503	SO:0001819	synonymous_variant	2000				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	g.chrX:129200819G>A	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1869C>T	X.37:g.129200819G>A						ELF4_ENST00000335997.7_Silent_p.S623S	p.S623S	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN			9	2248	-			623						Silent	SNP	ENST00000308167.5	37	c.1869C>T	CCDS14617.1																																																																																				0.592	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		19	78	0	0	0	1	0	19	78					A	129200819	G	A	129200819	2	1	443	1	0	0	0	0	0	0	0	1	5056	1219	43	3		3	ELF4	23	129200819	Silent	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	306319	129200819	26069741	134	30574											
MAP7D3	79649	broad.mit.edu	37	chrX	135309468	135309468	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgcttcctggtcttccTgatccagccatcctttcttc	3	16	8	14	0	2	1	0	1	2	0	7	1	6	1	5	2	2	1	5	2	0	4			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:135309468T>A	ENST00000316077.9	-	12	2229	c.2009A>T	c.(2008-2010)cAg>cTg	p.Q670L	MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q652L|MAP7D3_ENST00000495432.1_5'UTR|MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q635L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	670					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				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)					CTGGTCTTCCTGATCCAGCCA	0.448																																						ENST00000316077.9																			0				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						c.(2008-2010)cAg>cTg		MAP7 domain containing 3							206	186	193					X																	135309468		1962	4123	6085	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135309468T>A	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.2009A>T	X.37:g.135309468T>A	ENSP00000318086:p.Gln670Leu					MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q652L|MAP7D3_ENST00000495432.1_5'UTR|MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q635L	p.Q670L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			12	2229	-	Acute lymphoblastic leukemia(192;0.000127)		670					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.2009A>T	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.582740	0.46006	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.82	-0.651	0.11454	.	.	.	.	.	T	0.29158	0.0725	L	0.40543	1.245	0.09310	N	1	D;D;D;P	0.58268	0.979;0.982;0.979;0.944	P;P;P;P	0.54759	0.76;0.7;0.76;0.548	T	0.17715	-1.0360	9	0.62326	D	0.03	0.0211	7.1552	0.25632	0.0:0.0874:0.4811:0.4314	.	652;629;670;635	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	L	635;670;652;629	ENSP00000359695:Q635L;ENSP00000318086:Q670L;ENSP00000359697:Q652L;ENSP00000359694:Q629L	ENSP00000318086:Q670L	Q	-	2	0	MAP7D3	135137134	0.001000	0.12720	0.000000	0.03702	0.247000	0.25773	0.108000	0.15396	-0.313000	0.08728	0.486000	0.48141	CAG		0.448	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			28	38	0	0	0	1	0	28	38					A	135309468	T	A	135309468	3	1	443	1	0	0	0	0	1	0	0	0	9269	1580	55	5	649	5	MAP7D3	23	135309468	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	6108649	135309468	19961092	135	30575											
L1CAM	3897	broad.mit.edu	37	chrX	153130077	153130077	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatatggaacctgaagttGcactggccctccttggggac	10	9	12	10	0	0	2	0	1	0	1	1	4	1	4	3	4	2	2	3	4	4	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:153130077G>C	ENST00000370060.1	-	24	3318	c.3129C>G	c.(3127-3129)tgC>tgG	p.C1043W	L1CAM_ENST00000370055.1_Missense_Mutation_p.C1038W|L1CAM_ENST00000361699.4_Missense_Mutation_p.C1043W|L1CAM_ENST00000370057.3_Missense_Mutation_p.C1043W|L1CAM_ENST00000538883.1_Missense_Mutation_p.C1045W|L1CAM_ENST00000361981.3_Missense_Mutation_p.C1038W|L1CAM_ENST00000543994.1_Missense_Mutation_p.C1045W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1043	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGAAGTTGCACTGGCCCT	0.597																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(3127-3129)tgC>tgG		L1 cell adhesion molecule							119	114	116					X																	153130077		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130077G>C	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3129C>G	X.37:g.153130077G>C	ENSP00000359077:p.Cys1043Trp					L1CAM_ENST00000361699.4_Missense_Mutation_p.C1043W|L1CAM_ENST00000543994.1_Missense_Mutation_p.C1045W|L1CAM_ENST00000538883.1_Missense_Mutation_p.C1045W|L1CAM_ENST00000370055.1_Missense_Mutation_p.C1038W|L1CAM_ENST00000370057.3_Missense_Mutation_p.C1043W|L1CAM_ENST00000361981.3_Missense_Mutation_p.C1038W	p.C1043W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			24	3318	-	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)		1043			Fibronectin type-III 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.3129C>G	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847853	0.32606	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	4.9	2.71	0.32032	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.763357	0.11858	N	0.522666	T	0.73705	0.3621	N	0.19112	0.55	0.42496	D	0.992914	B;P;B	0.43352	0.001;0.804;0.0	B;B;B	0.40375	0.001;0.327;0.0	T	0.70085	-0.4969	10	0.66056	D	0.02	.	5.9481	0.19229	0.1273:0.1971:0.6756:0.0	.	1038;1043;1043	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	W	1043;1045;1043;1045;1038;1038;1043	ENSP00000359077:C1043W;ENSP00000438430:C1045W;ENSP00000359074:C1043W;ENSP00000439645:C1045W;ENSP00000354712:C1038W;ENSP00000359072:C1038W;ENSP00000355380:C1043W	ENSP00000355380:C1043W	C	-	3	2	L1CAM	152783271	1.000000	0.71417	0.755000	0.31263	0.323000	0.28346	1.592000	0.36676	0.844000	0.35094	0.529000	0.55759	TGC		0.597	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		48	65	0	0	0	1	0	48	65					C	153130077	G	C	153130077	3	2	443	1	0	0	0	0	1	0	0	0	8588	1311	46	5	668	5	L1CAM	23	153130077	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	17820609	153130077	2140483	136	30576											
F8	2157	broad.mit.edu	37	chrX	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-																															gaatggctaaagaaaggttaTtttttttggctccttgtaag																								rs387906455		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)aatfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.N1460fs*5(2)|p.N1460fs*2(2)		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)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413																																						ENST00000360256.4																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.N1460fs*5(2)|p.N1460fs*2(2)	haematopoietic_and_lymphoid_tissue(2)|breast(2)	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	GRCh37	CD910498	F8	D		c.(4378-4380)atfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						86	84	85					X																	154157686		2203	4300	6503	SO:0001589	frameshift_variant	2157				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	g.chrX:154157686delT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4379delA	X.37:g.154157686delT	ENSP00000353393:p.Asn1461fs						p.N1461fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4579	-	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)		1461			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.4379delA	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			8	133						8	133	---	---	---	---	-	154157686	T	-	154157686	7	5	443	1	0	1	0	1	0	0	0	0	5350	1493	52	0	2756	0	F8	23	154157686	Frame_Shift_Del	DEL	T	TCGA-XQ-A8TA-01A-11D-A364-08	1027609	154157686	1112874	137	30577											
ETV3L	440695	broad.mit.edu	37	chr1	157062700	157062700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgccaggcccctgggaggCtcctaggtcctgggagcagg	7	6	16	12	0	0	0	0	0	0	0	2	2	2	2	5	6	2	2	5	6	2	1			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr1:157062700C>T	ENST00000454449.2	-	5	1111	c.827G>A	c.(826-828)aGc>aAc	p.S276N		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	276	Pro-rich.				cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			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)				CCCTGGGAGGCTCCTAGGTCC	0.642																																						ENST00000454449.2																			0				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						c.(826-828)aGc>aAc		ets variant 3-like							24	29	27					1																	157062700		2203	4300	6503	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157062700C>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.827G>A	1.37:g.157062700C>T	ENSP00000430271:p.Ser276Asn						p.S276N	NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN			5	1111	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	276			Pro-rich.			Missense_Mutation	SNP	ENST00000454449.2	37	c.827G>A	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	C	6.380	0.438136	0.12104	.	.	ENSG00000253831	ENST00000454449	T	0.33865	1.39	3.69	2.68	0.31781	.	.	.	.	.	T	0.07324	0.0185	N	0.19112	0.55	0.09310	N	1	B	0.23854	0.092	B	0.18561	0.022	T	0.27297	-1.0078	9	0.17369	T	0.5	.	5.557	0.17121	0.24:0.5597:0.2003:0.0	.	276	Q6ZN32	ETV3L_HUMAN	N	276	ENSP00000430271:S276N	ENSP00000430271:S276N	S	-	2	0	ETV3L	155329324	0.007000	0.16637	0.002000	0.10522	0.022000	0.10575	1.277000	0.33167	1.887000	0.54652	0.491000	0.48974	AGC		0.642	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		12	21	0	0	0	1	0	12	21					T	157062700	C	T	157062700	3	4	444	1	0	0	0	0	1	0	0	0	5280	797	28	3	262	3	ETV3L	1	157062700	Missense_Mutation	SNP	C	TCGA-XQ-A8TB-01A-11D-A364-08		157062700	92187921	1	30578											
IPO9	55705	broad.mit.edu	37	chr1	201822199	201822199	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccacttgtgcccatatgAtctgtaacatggaggagctg	10	12	10	9	0	1	1	0	1	1	0	1	3	1	3	2	2	4	2	2	2	3	4			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr1:201822199A>G	ENST00000361565.4	+	6	733	c.664A>G	c.(664-666)Atc>Gtc	p.I222V	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	222					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TGCCCATATGATCTGTAACAT	0.438																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(664-666)Atc>Gtc		importin 9							217	204	208					1																	201822199		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201822199A>G	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.664A>G	1.37:g.201822199A>G	ENSP00000354742:p.Ile222Val					IPO9_ENST00000464348.1_3'UTR	p.I222V	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			6	733	+			222					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.664A>G	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598912	0.66332	.	.	ENSG00000198700	ENST00000361565	T	0.68181	-0.31	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56949	0.2020	L	0.45422	1.42	0.80722	D	1	P	0.39116	0.66	B	0.35971	0.215	T	0.56141	-0.8028	10	0.25106	T	0.35	-10.324	13.816	0.63292	1.0:0.0:0.0:0.0	.	222	Q96P70	IPO9_HUMAN	V	222	ENSP00000354742:I222V	ENSP00000354742:I222V	I	+	1	0	IPO9	200088822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.849000	0.69465	2.162000	0.67917	0.455000	0.32223	ATC		0.438	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		5	182	0	0	0	1	0	5	182					G	201822199	A	G	201822199	3	3	444	1	0	0	0	0	1	0	0	0	7799	333	12	4	686	4	IPO9	1	201822199	Missense_Mutation	SNP	A	TCGA-XQ-A8TB-01A-11D-A364-08	44759499	201822199	47428422	2	30579											
SOCS5	9655	broad.mit.edu	37	chr2	46985998	46985998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaggaacaagacttgcacGaagagattcctactctcgac	13	7	8	13	2	1	2	0	0	1	2	3	6	2	3	2	1	3	1	2	1	4	3	rs377674278		TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr2:46985998G>A	ENST00000306503.5	+	2	501	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	SOCS5_ENST00000394861.2_Missense_Mutation_p.R110Q	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	110					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGACTTGCACGAAGAGATTCC	0.403																																						ENST00000306503.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(328-330)cGa>cAa		suppressor of cytokine signaling 5		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	65	63	64		329,329	3.6	0.1	2		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SOCS5	NM_014011.4,NM_144949.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	110/537,110/537	46985998	1,13005	2203	4300	6503	SO:0001583	missense	0				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			g.chr2:46985998G>A	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.329G>A	2.37:g.46985998G>A	ENSP00000305133:p.Arg110Gln					SOCS5_ENST00000394861.2_Missense_Mutation_p.R110Q	p.R110Q	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	501	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	110					Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.329G>A	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385431	0.61956	0.0	1.16E-4	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.37752	1.18;1.18	5.4	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	L	0.34521	1.04	0.45108	D	0.99812	D	0.69078	0.997	D	0.67725	0.953	T	0.41431	-0.9509	10	0.72032	D	0.01	-15.9341	11.6361	0.51204	0.1428:0.0:0.8572:0.0	.	110	O75159	SOCS5_HUMAN	Q	110	ENSP00000305133:R110Q;ENSP00000378330:R110Q	ENSP00000305133:R110Q	R	+	2	0	SOCS5	46839502	1.000000	0.71417	0.121000	0.21740	0.997000	0.91878	6.190000	0.72057	0.848000	0.35191	0.655000	0.94253	CGA		0.403	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			16	33	0	0	0	1	0	16	33					A	46985998	G	A	46985998	3	1	444	1	0	0	0	0	1	0	0	0	14917	1058	37	2	331	2	SOCS5	2	46985998	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08		46985998	196213375	3	30580											
LRRTM1	347730	broad.mit.edu	37	chr2	80529581	80529581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctgagctgcctgaggctgGctgggaaacacttccaggac	8	8	14	11	0	1	2	0	2	1	0	2	4	2	4	2	4	3	3	2	4	1	1			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr2:80529581G>A	ENST00000295057.3	-	2	2020	c.1364C>T	c.(1363-1365)gCc>gTc	p.A455V	CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A455V|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	455					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				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						CCTGAGGCTGGCTGGGAAACA	0.572										HNSCC(69;0.2)																												ENST00000295057.3																			0				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						c.(1363-1365)gCc>gTc		leucine rich repeat transmembrane neuronal 1							103	91	95					2																	80529581		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529581G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1364C>T	2.37:g.80529581G>A	ENSP00000295057:p.Ala455Val	HNSCC(69;0.2)				CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A455V|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron	p.A455V	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	2020	-			455					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.1364C>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341098	0.81911	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.50277	0.75;0.75	5.18	5.18	0.71444	.	0.000000	0.64402	U	0.000001	T	0.59756	0.2217	L	0.48642	1.525	0.80722	D	1	D	0.69078	0.997	P	0.60012	0.867	T	0.57124	-0.7865	9	.	.	.	.	18.6948	0.91596	0.0:0.0:1.0:0.0	.	455	Q86UE6	LRRT1_HUMAN	V	455	ENSP00000295057:A455V;ENSP00000386646:A455V	.	A	-	2	0	LRRTM1	80383092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.383000	0.81215	0.561000	0.74099	GCC		0.572	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		19	27	0	0	0	1	0	19	27					A	80529581	G	A	80529581	3	1	444	1	0	0	0	0	1	0	0	0	9039	1203	42	3	208	3	LRRTM1	2	80529581	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08	33543583	80529581	162669792	4	30581											
VWA3B	200403	broad.mit.edu	37	chr2	98844716	98844716	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaacagggtcacagtgatCtggagaagatgcaagacctt	13	8	13	7	0	2	4	1	1	1	3	2	6	2	5	1	3	2	1	1	3	3	1			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr2:98844716C>A	ENST00000477737.1	+	15	2275	c.2071C>A	c.(2071-2073)Ctg>Atg	p.L691M		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	691										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCACAGTGATCTGGAGAAGAT	0.433																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2071-2073)Ctg>Atg		von Willebrand factor A domain containing 3B							108	109	108					2																	98844716		2003	4166	6169	SO:0001583	missense	200403							g.chr2:98844716C>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2071C>A	2.37:g.98844716C>A	ENSP00000417955:p.Leu691Met						p.L691M	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			15	2275	+			691					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2071C>A	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.47|13.47	2.248042|2.248042	0.39697|0.39697	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737|ENST00000473149	T|.	0.10477|.	2.87|.	5.71|5.71	4.83|4.83	0.62350|0.62350	.|.	0.247202|.	0.27654|.	N|.	0.018406|.	T|T	0.69869|0.69869	0.3159|0.3159	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;0.999;1.0;0.999|.	T|T	0.69371|0.69371	-0.5163|-0.5163	10|5	0.62326|.	D|.	0.03|.	.|.	12.3672|12.3672	0.55234|0.55234	0.0:0.9183:0.0:0.0817|0.0:0.9183:0.0:0.0817	.|.	83;691;691;691|.	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6|.	.;VWA3B_HUMAN;.;.|.	M|Y	691|101	ENSP00000417955:L691M|.	ENSP00000417955:L691M|.	L|S	+|+	1|2	2|0	VWA3B|VWA3B	98211148|98211148	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.041000|0.041000	0.13682|0.13682	1.367000|1.367000	0.34204|0.34204	1.410000|1.410000	0.46936|0.46936	0.467000|0.467000	0.42956|0.42956	CTG|TCT		0.433	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		19	44	1	0	8.00594e-06	1	8.33952e-06	19	44					A	98844716	C	A	98844716	3	1	444	1	0	0	0	0	1	0	0	0	17238	912	32	5	2125	5	VWA3B	2	98844716	Missense_Mutation	SNP	C	TCGA-XQ-A8TB-01A-11D-A364-08	18315135	98844716	144354657	5	30582											
FN1	2335	broad.mit.edu	37	chr2	216269132	216269132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgtggtaaagactccagtgGctttggggctctcttggttg	5	14	15	7	0	1	1	0	0	1	1	3	1	2	1	1	5	0	4	1	5	2	4			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr2:216269132G>A	ENST00000359671.1	-	20	3498	c.3233C>T	c.(3232-3234)gCc>gTc	p.A1078V	FN1_ENST00000443816.1_Missense_Mutation_p.A1078V|FN1_ENST00000356005.4_Missense_Mutation_p.A1078V|FN1_ENST00000446046.1_Missense_Mutation_p.A1078V|FN1_ENST00000354785.4_Missense_Mutation_p.A1078V|FN1_ENST00000323926.6_Missense_Mutation_p.A1078V|FN1_ENST00000336916.4_Missense_Mutation_p.A1078V|FN1_ENST00000346544.3_Missense_Mutation_p.A1078V|FN1_ENST00000357009.2_Missense_Mutation_p.A1078V|FN1_ENST00000421182.1_Missense_Mutation_p.A1078V|FN1_ENST00000345488.5_Missense_Mutation_p.A1078V|FN1_ENST00000432072.2_Missense_Mutation_p.A1078V|FN1_ENST00000357867.4_Missense_Mutation_p.A1078V			P02751	FINC_HUMAN	fibronectin 1	1078	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GACTCCAGTGGCTTTGGGGCT	0.433																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(3232-3234)gCc>gTc		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						94	91	92					2																	216269132		2203	4300	6503	SO:0001583	missense	2335				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	g.chr2:216269132G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3233C>T	2.37:g.216269132G>A	ENSP00000352696:p.Ala1078Val					FN1_ENST00000446046.1_Missense_Mutation_p.A1078V|FN1_ENST00000443816.1_Missense_Mutation_p.A1078V|FN1_ENST00000432072.2_Missense_Mutation_p.A1078V|FN1_ENST00000421182.1_Missense_Mutation_p.A1078V|FN1_ENST00000323926.6_Missense_Mutation_p.A1078V|FN1_ENST00000359671.1_Missense_Mutation_p.A1078V|FN1_ENST00000357867.4_Missense_Mutation_p.A1078V|FN1_ENST00000357009.2_Missense_Mutation_p.A1078V|FN1_ENST00000356005.4_Missense_Mutation_p.A1078V|FN1_ENST00000346544.3_Missense_Mutation_p.A1078V|FN1_ENST00000345488.5_Missense_Mutation_p.A1078V|FN1_ENST00000336916.4_Missense_Mutation_p.A1078V	p.A1078V			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	20	3602	-		Renal(323;0.127)	1078			Fibronectin type-III 5.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.3233C>T		.	.	.	.	.	.	.	.	.	.	G	10.74	1.434468	0.25813	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;2.02;0.58;0.58;0.58;0.58;0.58	5.83	-4.91	0.03085	.	1.064140	0.07298	N	0.873544	T	0.27134	0.0665	N	0.11724	0.165	0.21325	N	0.999729	B;B;B;B;B;B;B;B;B;B	0.19935	0.005;0.0;0.04;0.0;0.001;0.0;0.002;0.001;0.0;0.001	B;B;B;B;B;B;B;B;B;B	0.21360	0.012;0.002;0.034;0.003;0.012;0.001;0.007;0.007;0.003;0.011	T	0.31138	-0.9954	10	0.09843	T	0.71	.	8.3336	0.32202	0.5623:0.0:0.2994:0.1384	.	1078;1078;1078;1078;1078;1078;1078;1078;1078;1078	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	V	1078	ENSP00000394423:A1078V;ENSP00000323534:A1078V;ENSP00000338200:A1078V;ENSP00000350534:A1078V;ENSP00000346839:A1078V;ENSP00000352696:A1078V;ENSP00000265312:A1078V;ENSP00000273049:A1078V;ENSP00000349509:A1078V;ENSP00000410422:A1078V;ENSP00000415018:A1078V;ENSP00000399538:A1078V;ENSP00000348285:A1078V	ENSP00000265313:A1078V	A	-	2	0	FN1	215977377	0.136000	0.22515	0.878000	0.34440	0.934000	0.57294	-0.231000	0.09069	-0.752000	0.04728	-0.982000	0.02568	GCC		0.433	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		6	87	0	0	0	1	0	6	87					A	216269132	G	A	216269132	3	1	444	1	0	0	0	0	1	0	0	0	5962	1203	42	3	4308	3	FN1	2	216269132	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08	117424416	216269132	26930241	6	30583											
SLC23A3	151295	broad.mit.edu	37	chr2	220028152	220028152	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcccgaaaccatcttggcaGcagcaaggccatgaagatgg	12	7	11	11	1	1	2	0	1	1	1	2	3	2	2	3	3	3	3	3	3	3	2			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr2:220028152G>A	ENST00000409878.3	-	10	1431	c.1399C>T	c.(1399-1401)Ctg>Ttg	p.L467L	SLC23A3_ENST00000396775.3_3'UTR|SLC23A3_ENST00000295738.7_Silent_p.L350L|NHEJ1_ENST00000356853.5_5'Flank|SLC23A3_ENST00000455516.2_Silent_p.L475L	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	467					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCTTGGCAGCAGCAAGGCC	0.527																																						ENST00000455516.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11						c.(1423-1425)Ctg>Ttg		solute carrier family 23, member 3							136	141	139					2																	220028152		1947	4158	6105	SO:0001819	synonymous_variant	151295				transmembrane transport	integral to membrane	protein binding|transporter activity	g.chr2:220028152G>A	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"Solute carriers"	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.1399C>T	2.37:g.220028152G>A						SLC23A3_ENST00000409878.3_Silent_p.L467L|SLC23A3_ENST00000295738.7_Silent_p.L350L|SLC23A3_ENST00000396775.3_3'UTR	p.L475L	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1470	-		Renal(207;0.0474)	467					B7Z512|Q2PYN6|Q96NA6	Silent	SNP	ENST00000409878.3	37	c.1423C>T	CCDS46518.1																																																																																				0.527	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		4	144	0	0	0	1	0	4	144					A	220028152	G	A	220028152	2	1	444	1	0	0	0	0	0	0	0	1	14464	962	34	3		3	SLC23A3	2	220028152	Silent	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08	3759020	220028152	23171221	7	30584											
TRH	7200	broad.mit.edu	37	chr3	129695840	129695840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaggagctgggaagaagaGgaggaggaggaagagagaga	18	1	20	2	0	0	4	0	0	0	4	0	12	0	10	0	6	1	1	0	6	4	0			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			1	Substitution - coding silent(1)	p.E170E(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(508-510)gaG>gaA		thyrotropin-releasing hormone							33	35	34					3																	129695840		2202	4300	6502	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695840G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.510G>A	3.37:g.129695840G>A						TRH_ENST00000507066.1_Silent_p.E166E	p.E170E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	1037	+			170					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.510G>A	CCDS3066.1																																																																																				0.642	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		3	29	0	0	0	1	0	3	29					A	129695840	G	A	129695840	2	1	444	1	0	0	0	0	0	0	0	1	16475	991	35	3		3	TRH	3	129695840	Silent	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08		129695840	68326590	8	30585											
EVC2	132884	broad.mit.edu	37	chr4	5564760	5564760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggggccagttcgccaatggGctccagtgacaggtgtggcc	7	7	16	11	1	0	1	0	1	0	0	2	1	1	1	4	5	0	2	4	5	1	1			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr4:5564760G>A	ENST00000344408.5	-	22	3795	c.3742C>T	c.(3742-3744)Ccc>Tcc	p.P1248S	EVC2_ENST00000344938.1_Intron|EVC2_ENST00000310917.2_Missense_Mutation_p.P1168S	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1248					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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						TCGCCAATGGGCTCCAGTGAC	0.443																																						ENST00000310917.2																			0				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						c.(3502-3504)Ccc>Tcc		Ellis van Creveld syndrome 2							129	137	134					4																	5564760		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5564760G>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3742C>T	4.37:g.5564760G>A	ENSP00000342144:p.Pro1248Ser					EVC2_ENST00000344408.5_Missense_Mutation_p.P1248S|EVC2_ENST00000344938.1_Intron	p.P1168S	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			22	4233	-			1248					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3502C>T	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	G	3.654	-0.070859	0.07228	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.72835	-0.68;-0.69	5.02	1.56	0.23342	.	0.299896	0.33161	N	0.005203	T	0.37293	0.0998	N	0.03608	-0.345	0.58432	D	0.999998	B	0.12013	0.005	B	0.08055	0.003	T	0.16988	-1.0384	10	0.06891	T	0.86	-13.8807	6.4107	0.21690	0.1362:0.2379:0.6259:0.0	.	1248	Q86UK5	LBN_HUMAN	S	1168;1248	ENSP00000311683:P1168S;ENSP00000342144:P1248S	ENSP00000311683:P1168S	P	-	1	0	EVC2	5615661	0.408000	0.25360	0.996000	0.52242	0.992000	0.81027	0.214000	0.17541	0.458000	0.26988	0.563000	0.77884	CCC		0.443	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		9	146	0	0	0	1	0	9	146					A	5564760	G	A	5564760	3	1	444	1	0	0	0	0	1	0	0	0	5286	1203	42	3	188	3	EVC2	4	5564760	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08		5564760	185589516	9	30586											
CXCL1	2919	broad.mit.edu	37	chr4	74735480	74735480	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgaacgtgaagtccccCggaccccactgcgcccaaac	10	5	10	16	3	0	2	0	2	0	0	1	3	1	3	5	1	3	0	5	1	3	0			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr4:74735480C>T	ENST00000395761.3	+	2	262	c.195C>T	c.(193-195)ccC>ccT	p.P65P	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	65					actin cytoskeleton organization (GO:0030036)|cell chemotaxis (GO:0060326)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|enzyme activator activity (GO:0008047)|receptor binding (GO:0005102)			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGAAGTCCCCCGGACCCCACT	0.652																																						ENST00000395761.3																			0				lung(2)	2						c.(193-195)ccC>ccT		chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)							86	104	98					4																	74735480		2203	4300	6503	SO:0001819	synonymous_variant	2919				actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity	g.chr4:74735480C>T	J03561	CCDS47074.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163739		"Endogenous ligands"	4602	protein-coding gene	gene with protein product		155730	"GRO1 oncogene (melanoma growth stimulating activity, alpha)", "fibroblast secretory protein"	MGSA, GRO1, FSP		2217207	Standard	NM_001511		Approved	SCYB1, GROa, MGSA-a, NAP-3	uc003hhh.3	P09341		ENST00000395761.3:c.195C>T	4.37:g.74735480C>T						CXCL1_ENST00000509101.1_3'UTR	p.P65P	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	262	+	Breast(15;0.00102)		65					Q9UCR7	Silent	SNP	ENST00000395761.3	37	c.195C>T	CCDS47074.1																																																																																				0.652	CXCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362734.1			37	68	0	0	0	1	0	37	68					T	74735480	C	T	74735480	2	4	444	1	0	0	0	0	0	0	0	1	4077	639	23	2		2	CXCL1	4	74735480	Silent	SNP	C	TCGA-XQ-A8TB-01A-11D-A364-08	69170720	74735480	116418796	10	30587											
SLIT3	6586	broad.mit.edu	37	chr5	168093667	168093667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctggcggcggatcacctctCggactacttgtcccaggcac	6	9	11	15	3	3	0	1	0	2	0	5	2	4	2	2	5	1	1	2	5	1	2	rs61735416		TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr5:168093667C>T	ENST00000519560.1	-	36	4783	c.4364G>A	c.(4363-4365)cGa>cAa	p.R1455Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.R1462Q|CTC-558O2.2_ENST00000520041.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1455	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			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)			GATCACCTCTCGGACTACTTG	0.597																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				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						c.(4363-4365)cGa>cAa		slit homolog 3 (Drosophila)							72	70	70					5																	168093667		2203	4300	6503	SO:0001583	missense	6586				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	g.chr5:168093667C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4364G>A	5.37:g.168093667C>T	ENSP00000430333:p.Arg1455Gln					CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.R1462Q	p.R1455Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		36	4783	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1455			CTCK.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.4364G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147251	0.94603	.	.	ENSG00000184347	ENST00000519560;ENST00000332966	T;T	0.77877	-1.13;-1.11	5.08	5.08	0.68730	Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88610	0.6483	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.89731	0.3926	10	0.59425	D	0.04	.	18.4917	0.90851	0.0:1.0:0.0:0.0	.	1455	O75094	SLIT3_HUMAN	Q	1455;1462	ENSP00000430333:R1455Q;ENSP00000332164:R1462Q	ENSP00000332164:R1462Q	R	-	2	0	SLIT3	168026245	1.000000	0.71417	0.999000	0.59377	0.817000	0.46193	7.726000	0.84824	2.362000	0.80069	0.555000	0.69702	CGA		0.597	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		9	38	0	0	0	1	0	9	38					T	168093667	C	T	168093667	3	4	444	1	0	0	0	0	1	0	0	0	14741	884	31	2	211	2	SLIT3	5	168093667	Missense_Mutation	SNP	C	TCGA-XQ-A8TB-01A-11D-A364-08		168093667	12821593	11	30588											
LGSN	51557	broad.mit.edu	37	chr6	63991021	63991021	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggcattaggactatgtcGctattaaaacatgtggctct	10	14	9	8	1	2	0	0	0	2	0	3	1	2	1	0	3	1	3	0	3	5	4	rs137949367		TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr6:63991021G>A	ENST00000370657.4	-	4	468	c.435C>T	c.(433-435)agC>agT	p.S145S	LGSN_ENST00000370658.5_Silent_p.S145S			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	145					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGACTATGTCGCTATTAAAAC	0.423																																						ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(433-435)agC>agT		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)	G	,	0,4406		0,0,2203	135	128	131		435,435	-2.8	0.8	6	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LGSN	NM_001143940.1,NM_016571.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	145/209,145/510	63991021	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63991021G>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.435C>T	6.37:g.63991021G>A						LGSN_ENST00000370657.4_Silent_p.S145S	p.S145S	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			4	468	-			145					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	ENST00000370657.4	37	c.435C>T	CCDS4964.1																																																																																				0.423	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		21	65	0	0	0	1	0	21	65					A	63991021	G	A	63991021	2	1	444	1	0	0	0	0	0	0	0	1	8759	1078	38	1		1	LGSN	6	63991021	Silent	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08		63991021	107124046	12	30589											
TNRC18	84629	broad.mit.edu	37	chr7	5353440	5353440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctcggctccagggctaagGgggtactggggacctcgtct	5	9	16	11	2	1	0	0	0	1	0	4	1	2	1	2	6	2	4	2	6	2	2			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr7:5353440G>A	ENST00000430969.1	-	27	7430	c.7082C>T	c.(7081-7083)cCc>cTc	p.P2361L	TNRC18_ENST00000399537.4_Missense_Mutation_p.P2361L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2361	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CAGGGCTAAGGGGGTACTGGG	0.662																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(7081-7083)cCc>cTc		trinucleotide repeat containing 18							22	23	23					7																	5353440		1496	3477	4973	SO:0001583	missense	84629						DNA binding	g.chr7:5353440G>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7082C>T	7.37:g.5353440G>A	ENSP00000395538:p.Pro2361Leu					TNRC18_ENST00000430969.1_Missense_Mutation_p.P2361L	p.P2361L			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	7430	-		Ovarian(82;0.142)	2361			Pro-rich.		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.7082C>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	g	15.50	2.852905	0.51270	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.14144	2.53;2.55	4.6	4.6	0.57074	.	0.000000	0.32868	N	0.005548	T	0.27313	0.0670	L	0.61218	1.895	0.42544	D	0.993083	D	0.60160	0.987	P	0.54544	0.755	T	0.02661	-1.1127	10	0.62326	D	0.03	.	14.1415	0.65322	0.0:0.0:1.0:0.0	.	2361	O15417	TNC18_HUMAN	L	2361	ENSP00000382452:P2361L;ENSP00000395538:P2361L	ENSP00000382452:P2361L	P	-	2	0	TNRC18	5319966	1.000000	0.71417	0.277000	0.24703	0.902000	0.53008	5.505000	0.66981	2.102000	0.63906	0.462000	0.41574	CCC		0.662	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				10	18	0	0	0	1	0	10	18					A	5353440	G	A	5353440	3	1	444	1	0	0	0	0	1	0	0	0	16336	1232	43	3	1840	3	TNRC18	7	5353440	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08		5353440	153785223	13	30590											
FBXO16	157574	broad.mit.edu	37	chr8	28304692	28304692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataaacaatacttaccattGattgtgcttttcttagccta	12	16	4	9	0	1	1	0	1	1	0	1	1	1	1	2	0	5	1	2	0	7	9			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr8:28304692G>A	ENST00000380254.2	-	7	987	c.839C>T	c.(838-840)tCa>tTa	p.S280L	FBXO16_ENST00000346498.2_Missense_Mutation_p.S268L|RP11-181B11.2_ENST00000518819.1_RNA|RP11-181B11.2_ENST00000523935.1_RNA|FBXO16_ENST00000518734.1_Missense_Mutation_p.S268L	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	280										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		ACTTACCATTGATTGTGCTTT	0.318																																						ENST00000380254.2																			0				large_intestine(2)|ovary(1)	3						c.(838-840)tCa>tTa		F-box protein 16							209	196	200					8																	28304692		2203	4300	6503	SO:0001583	missense	157574							g.chr8:28304692G>A	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"F-boxes /  "other""	13618	protein-coding gene	gene with protein product		608519	"F-box only protein 16"			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.839C>T	8.37:g.28304692G>A	ENSP00000369604:p.Ser280Leu					FBXO16_ENST00000518734.1_Missense_Mutation_p.S268L|FBXO16_ENST00000346498.2_Missense_Mutation_p.S268L	p.S280L	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)	7	987	-		Ovarian(32;2.06e-05)	280					Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	37	c.839C>T	CCDS6068.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981198	0.74474	.	.	ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734	T;T;T	0.27256	2.04;1.68;2.05	4.87	4.87	0.63330	.	1.020860	0.07880	U	0.969396	T	0.54679	0.1873	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.40421	-0.9564	10	0.87932	D	0	-12.3177	13.8522	0.63504	0.0:0.0:1.0:0.0	.	268;268;280	Q3T1B3;Q3T1B2;Q8IX29	.;.;FBX16_HUMAN	L	280;268;268	ENSP00000369604:S280L;ENSP00000341416:S268L;ENSP00000429687:S268L	ENSP00000341416:S268L	S	-	2	0	FBXO16	28360611	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	3.412000	0.52679	2.408000	0.81797	0.591000	0.81541	TCA		0.318	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		22	53	0	0	0	1	0	22	53					A	28304692	G	A	28304692	3	1	444	1	0	0	0	0	1	0	0	0	5729	1294	45	3	51	3	FBXO16	8	28304692	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08		28304692	118059330	14	30591											
INTS9	55756	broad.mit.edu	37	chr8	28692856	28692856	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagactgagcctttggCactctttcaatgaaattcac	11	11	9	10	0	3	3	2	2	1	1	3	4	3	3	1	2	1	2	1	2	2	3			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr8:28692856C>A	ENST00000521022.1	-	6	522	c.441G>T	c.(439-441)gtG>gtT	p.V147V	INTS9_ENST00000521777.1_Silent_p.V123V|INTS9_ENST00000397363.4_Silent_p.V41V|INTS9_ENST00000416984.2_Silent_p.V126V	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	147					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				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)		GAGCCTTTGGCACTCTTTCAA	0.443																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(376-378)gtG>gtT		integrator complex subunit 9							109	98	102					8																	28692856		2203	4300	6503	SO:0001819	synonymous_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28692856C>A	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.441G>T	8.37:g.28692856C>A						INTS9_ENST00000521777.1_Silent_p.V123V|INTS9_ENST00000397363.4_Silent_p.V41V|INTS9_ENST00000521022.1_Silent_p.V147V	p.V126V	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	5	737	-		Ovarian(32;0.0439)	147					B7Z560|B7Z6M5|O00224|Q8TB16	Silent	SNP	ENST00000521022.1	37	c.378G>T	CCDS34873.1																																																																																				0.443	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		3	37	1	0	1	1	1	3	37					A	28692856	C	A	28692856	2	1	444	1	0	0	0	0	0	0	0	1	7785	697	25	5		5	INTS9	8	28692856	Silent	SNP	C	TCGA-XQ-A8TB-01A-11D-A364-08	388164	28692856	117671166	15	30592											
MTDH	92140	broad.mit.edu	37	chr8	98712028	98712028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaccacttctgattatcaGtgggatgttagccgtaatca	10	14	8	9	1	4	1	2	1	2	0	4	2	4	2	2	1	2	2	2	1	4	5			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr8:98712028G>T	ENST00000336273.3	+	7	1423	c.1095G>T	c.(1093-1095)caG>caT	p.Q365H	MTDH_ENST00000519934.1_Intron	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	365					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CTGATTATCAGTGGGATGTTA	0.328																																						ENST00000336273.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1093-1095)caG>caT		metadherin							143	137	139					8																	98712028		2203	4300	6503	SO:0001583	missense	92140				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	g.chr8:98712028G>T	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"astrocyte elevated gene 1"	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1095G>T	8.37:g.98712028G>T	ENSP00000338235:p.Gln365His					MTDH_ENST00000519934.1_Intron	p.Q365H	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		7	1423	+	Breast(36;2.56e-06)		365					Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	c.1095G>T	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780053	0.70222	.	.	ENSG00000147649	ENST00000336273;ENST00000521933	T	0.50001	0.76	5.19	5.19	0.71726	.	0.645248	0.16322	N	0.219517	T	0.61085	0.2319	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.60037	-0.7341	10	0.59425	D	0.04	-7.9369	12.7011	0.57034	0.0792:0.0:0.9208:0.0	.	365	Q86UE4	LYRIC_HUMAN	H	365;35	ENSP00000338235:Q365H	ENSP00000338235:Q365H	Q	+	3	2	MTDH	98781204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.740000	0.55082	2.581000	0.87130	0.561000	0.74099	CAG		0.328	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			31	56	1	0	3.78316e-11	1	4.02464e-11	31	56					T	98712028	G	T	98712028	3	4	444	1	0	0	0	0	1	0	0	0	9917	1020	36	5	1121	5	MTDH	8	98712028	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08	70019172	98712028	47651994	16	30593											
EGFL7	51162	broad.mit.edu	37	chr9	139564162	139564162	+	Frame_Shift_Del	DEL	C	C	-																															gaccagcgggcttcctggggCctgtggagcaggtgagggct																										TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr9:139564162delC	ENST00000371699.1	+	5	1213	c.302delC	c.(301-303)gccfs	p.A101fs	EGFL7_ENST00000406555.3_Frame_Shift_Del_p.A101fs|EGFL7_ENST00000308874.7_Frame_Shift_Del_p.A101fs|EGFL7_ENST00000371698.3_Frame_Shift_Del_p.A101fs|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000492002.1_3'UTR			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	101	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CTTCCTGGGGCCTGTGGAGCA	0.667																																						ENST00000371699.1																			0				kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6						c.(301-303)gcfs		EGF-like-domain, multiple 7							11	14	13					9																	139564162		2174	4273	6447	SO:0001589	frameshift_variant	51162				angiogenesis|vasculogenesis		calcium ion binding	g.chr9:139564162delC	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.302delC	9.37:g.139564162delC	ENSP00000360764:p.Ala101fs					EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000406555.3_Frame_Shift_Del_p.A101fs|EGFL7_ENST00000371698.3_Frame_Shift_Del_p.A101fs|EGFL7_ENST00000308874.7_Frame_Shift_Del_p.A101fs	p.A101fs			Q9UHF1	EGFL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	5	1213	+	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)	101			EMI.		B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Frame_Shift_Del	DEL	ENST00000371699.1	37	c.302delC	CCDS7002.1																																																																																				0.667	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215		2	4						2	4	---	---	---	---	-	139564162	C	-	139564162	7	5	444	1	0	1	0	1	0	0	0	0	4964	739	26	0	312	0	EGFL7	9	139564162	Frame_Shift_Del	DEL	C	TCGA-XQ-A8TB-01A-11D-A364-08		139564162	1649269	17	30594											
HHEX	3087	broad.mit.edu	37	chr10	94454307	94454307	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttcctttattcaggagAaccctcaaagcaataaaaaa	17	11	4	9	0	3	1	3	0	0	1	4	2	4	1	2	1	2	1	2	1	7	5			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:94454307A>C	ENST00000282728.5	+	4	2394	c.595A>C	c.(595-597)Aac>Cac	p.N199H	HHEX_ENST00000492654.2_Missense_Mutation_p.N27H|HHEX_ENST00000472590.2_Missense_Mutation_p.N27H	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	199					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						TATTCAGGAGAACCCTCAAAG	0.368																																						ENST00000282728.5																			0				kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(595-597)Aac>Cac		hematopoietically expressed homeobox							52	55	54					10																	94454307		2203	4300	6503	SO:0001583	missense	3087				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	g.chr10:94454307A>C	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"Homeoboxes / ANTP class : NKL subclass"	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.595A>C	10.37:g.94454307A>C	ENSP00000282728:p.Asn199His					HHEX_ENST00000472590.2_Missense_Mutation_p.N27H|HHEX_ENST00000492654.2_Missense_Mutation_p.N27H	p.N199H	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN			4	2394	+			199					B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	c.595A>C	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019033	0.75275	.	.	ENSG00000152804	ENST00000282728;ENST00000472590;ENST00000492654	D;D;D	0.91011	-2.77;-1.71;-1.71	5.34	5.34	0.76211	Homeobox (1);	0.000000	0.85682	D	0.000000	D	0.91774	0.7398	L	0.34521	1.04	0.47341	D	0.999398	D	0.69078	0.997	D	0.64687	0.928	D	0.92027	0.5630	10	0.48119	T	0.1	-10.8346	15.4877	0.75578	1.0:0.0:0.0:0.0	.	199	Q03014	HHEX_HUMAN	H	199;27;27	ENSP00000282728:N199H;ENSP00000450017:N27H;ENSP00000447953:N27H	ENSP00000282728:N199H	N	+	1	0	HHEX	94444287	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.235000	0.78143	2.248000	0.74166	0.533000	0.62120	AAC		0.368	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			11	13	0	0	0	1	0	11	13					C	94454307	A	C	94454307	3	2	444	1	0	0	0	0	1	0	0	0	7091	246	9	5	609	5	HHEX	10	94454307	Missense_Mutation	SNP	A	TCGA-XQ-A8TB-01A-11D-A364-08		94454307	41080440	18	30595			1	49		3	3	111	A		1.000823e-08
HHEX	3087	broad.mit.edu	37	chr10	94454330	94454330	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcaaagcaataaaaaagaAgaactggaaagtttggacag	20	6	9	6	0	1	2	1	0	0	2	1	4	1	4	1	2	2	2	1	2	8	2			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:94454330A>C	ENST00000282728.5	+	4	2417	c.618A>C	c.(616-618)gaA>gaC	p.E206D	HHEX_ENST00000492654.2_Missense_Mutation_p.E34D|HHEX_ENST00000472590.2_Missense_Mutation_p.E34D	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	206					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						ATAAAAAAGAAGAACTGGAAA	0.393																																						ENST00000282728.5																			0				kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(616-618)gaA>gaC		hematopoietically expressed homeobox							72	75	74					10																	94454330		2203	4300	6503	SO:0001583	missense	3087				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	g.chr10:94454330A>C	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"Homeoboxes / ANTP class : NKL subclass"	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.618A>C	10.37:g.94454330A>C	ENSP00000282728:p.Glu206Asp					HHEX_ENST00000472590.2_Missense_Mutation_p.E34D|HHEX_ENST00000492654.2_Missense_Mutation_p.E34D	p.E206D	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN			4	2417	+			206					B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	c.618A>C	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.345676	0.24426	.	.	ENSG00000152804	ENST00000282728;ENST00000472590;ENST00000492654	D;D;D	0.91180	-2.8;-1.69;-1.69	4.93	-5.94	0.02247	.	0.173336	0.49305	N	0.000143	T	0.70631	0.3246	N	0.12746	0.255	0.23984	N	0.996269	B	0.02656	0.0	B	0.01281	0.0	T	0.63047	-0.6724	10	0.17832	T	0.49	-0.859	1.7607	0.02992	0.2779:0.096:0.3335:0.2927	.	206	Q03014	HHEX_HUMAN	D	206;34;34	ENSP00000282728:E206D;ENSP00000450017:E34D;ENSP00000447953:E34D	ENSP00000282728:E206D	E	+	3	2	HHEX	94444310	0.973000	0.33851	0.921000	0.36526	0.992000	0.81027	0.368000	0.20399	-0.926000	0.03770	0.533000	0.62120	GAA		0.393	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			12	20	0	0	0	1	0	12	20					C	94454330	A	C	94454330	3	2	444	1	0	0	0	0	1	0	0	0	7091	69	3	5	632	5	HHEX	10	94454330	Missense_Mutation	SNP	A	TCGA-XQ-A8TB-01A-11D-A364-08	23	94454330	41080417	19	30596			1	49		3	3	111	A		1.000823e-08
HHEX	3087	broad.mit.edu	37	chr10	94454417	94454417	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttctttggatagctctcaAtgttcgccctcccctgcctc	4	14	7	16	1	2	0	1	0	2	0	6	1	3	1	4	1	2	3	4	1	2	4			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:94454417A>C	ENST00000282728.5	+	4	2504	c.705A>C	c.(703-705)caA>caC	p.Q235H	HHEX_ENST00000492654.2_Missense_Mutation_p.Q63H|HHEX_ENST00000472590.2_Missense_Mutation_p.Q63H	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	235					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						ATAGCTCTCAATGTTCGCCCT	0.438																																						ENST00000282728.5																			0				kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(703-705)caA>caC		hematopoietically expressed homeobox							107	105	106					10																	94454417		2203	4300	6503	SO:0001583	missense	3087				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	g.chr10:94454417A>C	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"Homeoboxes / ANTP class : NKL subclass"	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.705A>C	10.37:g.94454417A>C	ENSP00000282728:p.Gln235His					HHEX_ENST00000472590.2_Missense_Mutation_p.Q63H|HHEX_ENST00000492654.2_Missense_Mutation_p.Q63H	p.Q235H	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN			4	2504	+			235					B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	c.705A>C	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676406	0.67928	.	.	ENSG00000152804	ENST00000282728;ENST00000472590;ENST00000492654	D;D;D	0.91351	-2.83;-1.69;-1.69	5.44	-10.9	0.00192	.	0.470214	0.22060	N	0.065189	D	0.88470	0.6445	L	0.29908	0.895	0.09310	N	0.999992	D	0.61697	0.99	D	0.72982	0.979	D	0.86610	0.1872	10	0.72032	D	0.01	-0.6761	13.8864	0.63710	0.1723:0.0:0.7571:0.0706	.	235	Q03014	HHEX_HUMAN	H	235;63;63	ENSP00000282728:Q235H;ENSP00000450017:Q63H;ENSP00000447953:Q63H	ENSP00000282728:Q235H	Q	+	3	2	HHEX	94444397	0.017000	0.18338	0.009000	0.14445	0.941000	0.58515	-0.734000	0.04893	-1.859000	0.01156	-0.993000	0.02533	CAA		0.438	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			17	27	0	0	0	1	0	17	27					C	94454417	A	C	94454417	3	2	444	1	0	0	0	0	1	0	0	0	7091	98	4	5	719	5	HHEX	10	94454417	Missense_Mutation	SNP	A	TCGA-XQ-A8TB-01A-11D-A364-08	87	94454417	41080330	20	30597			1	49		3	3	111	A		1.000823e-08
CRTAC1	55118	broad.mit.edu	37	chr10	99661288	99661288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggttggctgaggagctgcGgtaggcaatgttgttgaaga	8	10	18	5	2	0	3	0	2	0	1	0	4	0	4	0	5	2	7	0	5	3	4			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:99661288G>A	ENST00000370597.3	-	8	1460	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	CRTAC1_ENST00000298819.4_Missense_Mutation_p.R369C|CRTAC1_ENST00000370591.2_Missense_Mutation_p.R369C	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	369						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GAGGAGCTGCGGTAGGCAATG	0.577																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1105-1107)Cgc>Tgc		cartilage acidic protein 1							129	103	112					10																	99661288		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99661288G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1105C>T	10.37:g.99661288G>A	ENSP00000359629:p.Arg369Cys					CRTAC1_ENST00000370591.2_Missense_Mutation_p.R369C|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R369C	p.R369C	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	8	1460	-		Colorectal(252;0.24)	369					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.1105C>T	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695568	0.68386	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	4.27	3.35	0.38373	.	0.064020	0.64402	D	0.000014	T	0.40423	0.1116	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;P;P	0.60236	0.869;0.854;0.871	T	0.38178	-0.9673	10	0.59425	D	0.04	-15.4033	13.6846	0.62508	0.0:0.0:0.8451:0.1549	.	369;369;265	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	C	265;369;369;361;369	ENSP00000408445:R265C;ENSP00000359629:R369C;ENSP00000298819:R369C;ENSP00000310810:R361C;ENSP00000359623:R369C	ENSP00000298819:R369C	R	-	1	0	CRTAC1	99651278	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.006000	0.57083	0.983000	0.38602	0.462000	0.41574	CGC		0.577	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		10	9	0	0	0	1	0	10	9					A	99661288	G	A	99661288	3	1	444	1	0	0	0	0	1	0	0	0	3896	1116	39	2	912	2	CRTAC1	10	99661288	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08	5206871	99661288	35873459	21	30598											
PDCD11	22984	broad.mit.edu	37	chr10	105201643	105201643	+	Frame_Shift_Del	DEL	A	A	-																															tgtcttcaggcttcgcttggAatgtgggactagactctctg																										TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:105201643delA	ENST00000369797.3	+	31	4712	c.4618delA	c.(4618-4620)aatfs	p.N1540fs		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1540					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTTCGCTTGGAATGTGGGACT	0.577																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(4618-4620)atfs		programmed cell death 11							50	56	54					10																	105201643		2203	4300	6503	SO:0001589	frameshift_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105201643delA	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4618delA	10.37:g.105201643delA	ENSP00000358812:p.Asn1540fs						p.N1540fs	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	31	4712	+		Colorectal(252;0.0747)|Breast(234;0.128)	1540					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Frame_Shift_Del	DEL	ENST00000369797.3	37	c.4618delA	CCDS31276.1																																																																																				0.577	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			10	25						10	25	---	---	---	---	-	105201643	A	-	105201643	7	5	444	1	0	1	0	1	0	0	0	0	11617	246	9	0	4736	0	PDCD11	10	105201643	Frame_Shift_Del	DEL	A	TCGA-XQ-A8TB-01A-11D-A364-08	5540355	105201643	30333104	22	30599											
OR51M1	390059	broad.mit.edu	37	chr11	5410912	5410912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacgttgcccaccactatggGgatcttctggtttaactccc	7	12	8	14	1	2	0	0	0	2	0	3	1	3	1	3	3	2	2	3	3	2	5	rs202231256	byFrequency	TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr11:5410912G>A	ENST00000328611.3	+	1	306	c.284G>A	c.(283-285)gGg>gAg	p.G95E	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	95					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCACTATGGGGATCTTCTGG	0.507																																						ENST00000328611.3																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(283-285)gGg>gAg		olfactory receptor, family 51, subfamily M, member 1							163	151	155					11																	5410912		2008	4199	6207	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5410912G>A	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"GPCR / Class A : Olfactory receptors"	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.284G>A	11.37:g.5410912G>A	ENSP00000333196:p.Gly95Glu					HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	p.G95E	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	306	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	95					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.284G>A	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788860	0.31685	.	.	ENSG00000184698	ENST00000328611	T	0.04406	3.63	5.15	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34291	U	0.004087	T	0.10852	0.0265	L	0.58669	1.825	0.09310	N	1	P	0.48089	0.905	P	0.52598	0.703	T	0.04481	-1.0948	10	0.66056	D	0.02	.	8.9659	0.35877	0.0827:0.1503:0.7671:0.0	.	84	Q9H341	O51M1_HUMAN	E	95	ENSP00000333196:G95E	ENSP00000333196:G95E	G	+	2	0	OR51M1	5367488	0.005000	0.15991	0.668000	0.29813	0.063000	0.16089	1.523000	0.35932	1.403000	0.46800	0.650000	0.86243	GGG		0.507	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		35	81	0	0	0	1	0	35	81					A	5410912	G	A	5410912	3	1	444	1	0	0	0	0	1	0	0	0	11103	1232	43	3	286	3	OR51M1	11	5410912	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08		5410912	129595604	23	30600											
CCKBR	887	broad.mit.edu	37	chr11	6292291	6292291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagactggcgcggttggcGaagacagcgatggctgctac	8	7	16	10	4	0	2	0	1	0	2	0	5	0	2	0	4	3	3	0	4	2	2			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr11:6292291G>A	ENST00000334619.2	+	5	1055	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	CCKBR_ENST00000525462.1_Missense_Mutation_p.E357K|CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000532715.1_Missense_Mutation_p.E204K	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	288				E -> K (in Ref. 5; AAB30766). {ECO:0000305}.	cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CGCGGTTGGCGAAGACAGCGA	0.677																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	GRCh37	CM972902	CCKBR	M		c.(1069-1071)Gaa>Aaa		cholecystokinin B receptor	Pentagastrin(DB00183)						60	60	60					11																	6292291		2201	4296	6497	SO:0001583	missense	887				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	g.chr11:6292291G>A	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.862G>A	11.37:g.6292291G>A	ENSP00000335544:p.Glu288Lys					CCKBR_ENST00000532715.1_Missense_Mutation_p.E204K|CCKBR_ENST00000334619.2_Missense_Mutation_p.E288K|CCKBR_ENST00000532396.1_3'UTR	p.E357K			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	1072	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	288					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.1069G>A	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025748	0.35701	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.75589	0.34;-0.95;0.27	4.99	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	0.305484	0.32952	N	0.005449	T	0.63319	0.2501	N	0.25485	0.75	0.40590	D	0.981472	D;B;B	0.52996	0.957;0.092;0.134	B;B;B	0.43508	0.422;0.024;0.041	T	0.64689	-0.6348	10	0.30078	T	0.28	.	15.3846	0.74687	0.0:0.2801:0.7199:0.0	.	357;222;288	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	K	288;204;357	ENSP00000335544:E288K;ENSP00000432079:E204K;ENSP00000435534:E357K	ENSP00000335544:E288K	E	+	1	0	CCKBR	6248867	1.000000	0.71417	0.532000	0.27989	0.228000	0.25075	4.671000	0.61590	1.308000	0.44962	0.655000	0.94253	GAA		0.677	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		4	90	0	0	0	1	0	4	90					A	6292291	G	A	6292291	3	1	444	1	0	0	0	0	1	0	0	0	2881	1059	37	2	880	2	CCKBR	11	6292291	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08	881379	6292291	128714225	24	30601											
DGKZ	8525	broad.mit.edu	37	chr11	46388339	46388339	+	Frame_Shift_Del	DEL	G	G	-																															cgtatatgaccacgctctctGgggcctgcacggctactatc																										TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr11:46388339delG	ENST00000454345.1	+	2	658	c.533delG	c.(532-534)tggfs	p.W178fs	DGKZ_ENST00000525434.1_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000395574.3_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	178					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			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)		CACGCTCTCTGGGGCCTGCAC	0.736																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(532-534)tgfs		diacylglycerol kinase, zeta							9	11	11					11																	46388339		1912	4032	5944	SO:0001589	frameshift_variant	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46388339delG	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.533delG	11.37:g.46388339delG	ENSP00000412178:p.Trp178fs					DGKZ_ENST00000525434.1_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000528615.1_Intron	p.W178fs	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	2	658	+			178					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Frame_Shift_Del	DEL	ENST00000454345.1	37	c.533delG	CCDS41640.1																																																																																				0.736	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		2	4						2	4	---	---	---	---	-	46388339	G	-	46388339	7	5	444	1	0	1	0	1	0	0	0	0	4474	1357	47	0	979	0	DGKZ	11	46388339	Frame_Shift_Del	DEL	G	TCGA-XQ-A8TB-01A-11D-A364-08	40096048	46388339	88618177	25	30602											
MARK2	2011	broad.mit.edu	37	chr11	63672332	63672332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtggtggagccccagaccGaactaacttcccccggggtg	8	6	13	14	2	0	1	0	0	0	1	1	3	1	2	5	4	3	0	5	4	2	2			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr11:63672332G>A	ENST00000509502.2	+	16	2112	c.1649G>A	c.(1648-1650)cGa>cAa	p.R550Q	MARK2_ENST00000377809.4_Missense_Mutation_p.R584Q|MARK2_ENST00000315032.8_Missense_Mutation_p.R584Q|MARK2_ENST00000502399.3_Missense_Mutation_p.R583Q|MARK2_ENST00000350490.7_Missense_Mutation_p.R529Q|MARK2_ENST00000413835.2_Missense_Mutation_p.R530Q|MARK2_ENST00000513765.2_Missense_Mutation_p.R551Q|MARK2_ENST00000508192.1_Missense_Mutation_p.R529Q|MARK2_ENST00000361128.5_Missense_Mutation_p.R530Q|MARK2_ENST00000425897.2_Missense_Mutation_p.R504Q|MARK2_ENST00000408948.3_Missense_Mutation_p.R496Q|MARK2_ENST00000377810.3_Missense_Mutation_p.R496Q|MARK2_ENST00000402010.2_Missense_Mutation_p.R584Q	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											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						GCCCCAGACCGAACTAACTTC	0.637																																						ENST00000402010.2																			0				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						c.(1750-1752)cGa>cAa		MAP/microtubule affinity-regulating kinase 2							70	58	62					11																	63672332		2201	4297	6498	SO:0001583	missense	2011				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	g.chr11:63672332G>A	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1649G>A	11.37:g.63672332G>A	ENSP00000423974:p.Arg550Gln					MARK2_ENST00000377809.4_Missense_Mutation_p.R584Q|MARK2_ENST00000361128.5_Missense_Mutation_p.R530Q|MARK2_ENST00000509502.2_Missense_Mutation_p.R550Q|MARK2_ENST00000425897.2_Missense_Mutation_p.R504Q|MARK2_ENST00000508192.1_Missense_Mutation_p.R529Q|MARK2_ENST00000502399.3_Missense_Mutation_p.R583Q|MARK2_ENST00000315032.8_Missense_Mutation_p.R584Q|MARK2_ENST00000408948.3_Missense_Mutation_p.R496Q|MARK2_ENST00000350490.7_Missense_Mutation_p.R529Q|MARK2_ENST00000513765.2_Missense_Mutation_p.R551Q|MARK2_ENST00000413835.2_Missense_Mutation_p.R530Q|MARK2_ENST00000377810.3_Missense_Mutation_p.R496Q	p.R584Q	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			16	2330	+			584						Missense_Mutation	SNP	ENST00000509502.2	37	c.1751G>A	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	g	11.50	1.657041	0.29425	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2	4.51	3.58	0.41010	.	0.143577	0.43919	D	0.000508	T	0.30386	0.0763	L	0.46670	1.46	0.45995	D	0.998805	B;P;B;P;P;B	0.51351	0.399;0.944;0.161;0.876;0.679;0.358	B;B;B;B;B;B	0.39503	0.042;0.301;0.131;0.131;0.158;0.062	T	0.12682	-1.0538	10	0.45353	T	0.12	.	13.1186	0.59313	0.0:0.0:0.838:0.162	.	504;550;529;530;584;529	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	Q	584;584;584;530;496;529;530;529;585;550;551;496;504	ENSP00000385751:R584Q;ENSP00000326632:R584Q;ENSP00000367040:R584Q;ENSP00000389184:R530Q;ENSP00000367041:R496Q;ENSP00000425765:R529Q;ENSP00000355091:R530Q;ENSP00000294247:R529Q;ENSP00000423974:R550Q;ENSP00000421075:R551Q;ENSP00000386128:R496Q;ENSP00000415494:R504Q	ENSP00000326632:R584Q	R	+	2	0	MARK2	63428908	1.000000	0.71417	0.999000	0.59377	0.081000	0.17604	6.454000	0.73493	1.238000	0.43771	-0.330000	0.08379	CGA		0.637	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		22	34	0	0	0	1	0	22	34					A	63672332	G	A	63672332	3	1	444	1	0	0	0	0	1	0	0	0	9313	1058	37	2	1813	2	MARK2	11	63672332	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08	17283993	63672332	71334184	26	30603											
PRPF40B	25766	broad.mit.edu	37	chr12	50036730	50036730	+	Frame_Shift_Del	DEL	C	C	-																															cagactgaatgccagcacctCcacaccaaaggccgaaagca																										TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr12:50036730delC	ENST00000380281.1	+	21	2137	c.2073delC	c.(2071-2073)ctcfs	p.L691fs	PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.L712fs|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000261897.1_Frame_Shift_Del_p.L678fs			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	691					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				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						GCCAGCACCTCCACACCAAAG	0.542																																						ENST00000261897.1																			0				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						c.(2032-2034)ctfs		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							126	103	111					12																	50036730		2203	4300	6503	SO:0001589	frameshift_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50036730delC	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2073delC	12.37:g.50036730delC	ENSP00000369634:p.Leu691fs					FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.L712fs|PRPF40B_ENST00000380281.1_Frame_Shift_Del_p.L691fs	p.L678fs			Q6NWY9	PR40B_HUMAN			21	2585	+			691					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Frame_Shift_Del	DEL	ENST00000380281.1	37	c.2034delC																																																																																					0.542	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		2	4						2	4	---	---	---	---	-	50036730	C	-	50036730	7	5	444	1	0	1	0	1	0	0	0	0	12572	842	30	0	2155	0	PRPF40B	12	50036730	Frame_Shift_Del	DEL	C	TCGA-XQ-A8TB-01A-11D-A364-08		50036730	83815165	27	30604											
NOS1	4842	broad.mit.edu	37	chr12	117657907	117657907	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgatgaatacgccggcGtcctctgccgagagcttccc	6	8	12	15	5	1	3	0	2	1	1	3	4	3	3	4	2	3	2	4	2	2	2			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr12:117657907G>A	ENST00000338101.4	-	27	4249	c.4245C>T	c.(4243-4245)gaC>gaT	p.D1415D	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.D1381D			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.D1381D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		ATACGCCGGCGTCCTCTGCCG	0.577																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			1	Substitution - coding silent(1)	p.D1381D(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(4141-4143)gaC>gaT		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						96	108	104					12																	117657907		2143	4253	6396	SO:0001819	synonymous_variant	4842				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	g.chr12:117657907G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4245C>T	12.37:g.117657907G>A						NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.D1415D	p.D1381D	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	27	4828	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1381						Silent	SNP	ENST00000338101.4	37	c.4143C>T	CCDS55890.1																																																																																				0.577	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			29	72	0	0	0	1	0	29	72					A	117657907	G	A	117657907	2	1	444	1	0	0	0	0	0	0	0	1	10541	1136	40	1		1	NOS1	12	117657907	Silent	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08	67621177	117657907	16193988	28	30605											
SRRM4	84530	broad.mit.edu	37	chr12	119563255	119563255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgcggtcccagagctcGgagtcccgcccctcaagctg	5	6	11	19	4	1	1	1	0	0	1	5	2	3	2	5	2	2	2	5	2	1	0			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr12:119563255G>A	ENST00000267260.4	+	7	973	c.585G>A	c.(583-585)tcG>tcA	p.S195S	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	195	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCCAGAGCTCGGAGTCCCGCC	0.627																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(583-585)tcG>tcA		serine/arginine repetitive matrix 4							39	50	47					12																	119563255		2045	4176	6221	SO:0001819	synonymous_variant	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119563255G>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.585G>A	12.37:g.119563255G>A						SRRM4_ENST00000537597.1_3'UTR	p.S195S	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			7	973	+			195			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	c.585G>A	CCDS44994.1																																																																																				0.627	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		13	31	0	0	0	1	0	13	31					A	119563255	G	A	119563255	2	1	444	1	0	0	0	0	0	0	0	1	15170	1103	39	2		2	SRRM4	12	119563255	Silent	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08	1905348	119563255	14288640	29	30606											
RAB15	376267	broad.mit.edu	37	chr14	65417801	65417801	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctcctacctcatccacGtcactgacccacttcatgat	9	11	4	17	1	4	2	3	2	1	0	6	2	5	2	4	0	1	1	4	0	1	2			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr14:65417801G>A	ENST00000533601.2	-	4	652	c.315C>T	c.(313-315)gaC>gaT	p.D105D	FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|RAB15_ENST00000426039.3_Silent_p.D59D|RAB15_ENST00000267512.5_Silent_p.D105D|CHURC1-FNTB_ENST00000549987.1_Intron|RAB15_ENST00000436278.2_Silent_p.D59D			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	105					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			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)		CCTCATCCACGTCACTGACCC	0.537																																						ENST00000533601.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(313-315)gaC>gaT		RAB15, member RAS oncogene family							70	66	68					14																	65417801		2203	4300	6503	SO:0001819	synonymous_variant	376267				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr14:65417801G>A	BC014511	CCDS9768.1	14q23.2	2012-02-28	2012-02-28		ENSG00000139998	ENSG00000139998		"RAB, member RAS oncogene"	20150	protein-coding gene	gene with protein product						11697911	Standard	NM_198686		Approved		uc001xhz.2	P59190	OTTHUMG00000142810	ENST00000533601.2:c.315C>T	14.37:g.65417801G>A						CHURC1-FNTB_ENST00000542227.1_Intron|RAB15_ENST00000267512.5_Silent_p.D105D|RAB15_ENST00000426039.3_Silent_p.D59D|RAB15_ENST00000436278.2_Silent_p.D59D|CHURC1-FNTB_ENST00000447296.2_Intron	p.D105D			P59190	RAB15_HUMAN		all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)	4	652	-			105					G5EMR7|Q86TX7|Q8IW89	Silent	SNP	ENST00000533601.2	37	c.315C>T																																																																																					0.537	RAB15-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390443.2	NM_198686		7	63	0	0	0	1	0	7	63					A	65417801	G	A	65417801	2	1	444	1	0	0	0	0	0	0	0	1	12901	1136	40	1		1	RAB15	14	65417801	Silent	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08		65417801	41931739	30	30607											
DIO3	1735	broad.mit.edu	37	chr14	102027947	102027947	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcttcactccttgaggctCtgcgcccagaccgcctcgtg	4	10	10	17	3	2	2	1	1	1	1	4	2	3	2	4	1	2	2	4	1	0	2			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr14:102027947C>T	ENST00000510508.4	+	1	260	c.114C>T	c.(112-114)ctC>ctT	p.L38L	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Silent_p.L12L			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	38					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CCTTGAGGCTCTGCGCCCAGA	0.657																																						ENST00000510508.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(112-114)ctC>ctT		deiodinase, iodothyronine, type III							30	34	33					14																	102027947		2152	4252	6404	SO:0001819	synonymous_variant	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102027947C>T	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.114C>T	14.37:g.102027947C>T						DIO3_ENST00000359323.3_Silent_p.L12L	p.L38L			P55073	IOD3_HUMAN			1	260	+		all_neural(303;0.185)	12					G3XAM0|Q8WVN5	Silent	SNP	ENST00000510508.4	37	c.114C>T	CCDS41992.2																																																																																				0.657	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		10	25	0	0	0	1	0	10	25					T	102027947	C	T	102027947	2	4	444	1	0	0	0	0	0	0	0	1	4526	900	32	3		3	DIO3	14	102027947	Silent	SNP	C	TCGA-XQ-A8TB-01A-11D-A364-08	36610146	102027947	5321593	31	30608											
NEK8	284086	broad.mit.edu	37	chr17	27062354	27062354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgggctgtgtcctctacGagctggccagcctcaagagg	6	8	13	14	1	2	1	1	0	1	1	3	2	3	1	4	3	3	2	4	3	2	1			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr17:27062354G>A	ENST00000268766.6	+	4	617	c.583G>A	c.(583-585)Gag>Aag	p.E195K	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			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)					TGTCCTCTACGAGCTGGCCAG	0.602																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				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						c.(583-585)Gag>Aag		NIMA-related kinase 8							43	41	41					17																	27062354		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27062354G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.583G>A	17.37:g.27062354G>A	ENSP00000268766:p.Glu195Lys					NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	p.E195K	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			4	617	+	Lung NSC(42;0.0158)		195			Protein kinase.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.583G>A	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	G	37	6.319888	0.97471	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.36878	1.23;1.23	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	M	0.92077	3.27	0.80722	D	1	D	0.65815	0.995	P	0.60473	0.875	T	0.76132	-0.3071	10	0.87932	D	0	.	18.8895	0.92392	0.0:0.0:1.0:0.0	.	195	Q86SG6	NEK8_HUMAN	K	195	ENSP00000465859:E195K;ENSP00000268766:E195K	ENSP00000268766:E195K	E	+	1	0	NEK8	24086481	1.000000	0.71417	0.996000	0.52242	0.795000	0.44927	9.622000	0.98378	2.704000	0.92352	0.549000	0.68633	GAG		0.602	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			7	16	0	0	0	1	0	7	16					A	27062354	G	A	27062354	3	1	444	1	0	0	0	0	1	0	0	0	10330	1059	37	2	597	2	NEK8	17	27062354	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08		27062354	54132856	32	30609											
AARSD1	80755	broad.mit.edu	37	chr17	41107892	41107892	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgctttttcagttccaTgacttctctccatccacttc	6	17	4	14	0	3	1	2	1	1	0	8	1	6	1	3	0	1	2	3	0	0	5			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr17:41107892T>C	ENST00000427569.2	-	7	796	c.761A>G	c.(760-762)cAt>cGt	p.H254R	AARSD1_ENST00000416949.1_5'Flank|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.H428R|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.H367R|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.H337R|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.H428R	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	254					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TTCAGTTCCATGACTTCTCTC	0.438																																						ENST00000421990.2																			0											c.(1282-1284)cAt>cGt									209	200	203					17																	41107892		2203	4300	6503	SO:0001583	missense	0							g.chr17:41107892T>C	BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.761A>G	17.37:g.41107892T>C	ENSP00000400870:p.His254Arg					PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.H428R|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.H367R|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.H337R|AARSD1_ENST00000427569.2_Missense_Mutation_p.H254R	p.H428R	NM_001136042.2	NP_001129514.2					12	1628	-								B4DI73	Missense_Mutation	SNP	ENST00000427569.2	37	c.1283A>G	CCDS58552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.48|18.48	3.633956|3.633956	0.67130|0.67130	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103;ENST00000423601|ENST00000441280	T;T|.	0.42513|.	0.97;0.97|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);|.	0.125797|.	0.53938|.	D|.	0.000042|.	T|T	0.63965|0.63965	0.2556|0.2556	L|L	0.50333|0.50333	1.59|1.59	0.35422|.	D|.	0.793350|.	P;P;P;B|.	0.46706|.	0.815;0.607;0.883;0.182|.	B;B;B;B|.	0.38458|.	0.274;0.177;0.274;0.084|.	T|T	0.66779|0.66779	-0.5837|-0.5837	9|4	0.31617|.	T|.	0.26|.	-16.9889|-16.9889	15.6523|15.6523	0.77108|0.77108	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	428;337;385;254|.	B4DI73;C9J5N1;B3KSP9;Q9BTE6|.	.;.;.;AASD1_HUMAN|.	R|V	367;428;428;254;337;136|260	ENSP00000386621:H428R;ENSP00000409924:H428R|.	ENSP00000353355:H367R|.	H|M	-|-	2|1	0|0	AARSD1|AARSD1	38361418|38361418	1.000000|1.000000	0.71417|0.71417	0.857000|0.857000	0.33713|0.33713	0.992000|0.992000	0.81027|0.81027	7.875000|7.875000	0.87205|0.87205	2.086000|2.086000	0.62901|0.62901	0.459000|0.459000	0.35465|0.35465	CAT|ATG		0.438	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467729.1	NM_001261434		5	155	0	0	0	1	0	5	155					C	41107892	T	C	41107892	3	2	444	1	0	0	0	0	1	0	0	0	21	1464	51	4	501	4	AARSD1	17	41107892	Missense_Mutation	SNP	T	TCGA-XQ-A8TB-01A-11D-A364-08	14045538	41107892	40087318	33	30610											
NFKBID	84807	broad.mit.edu	37	chr19	36381296	36381296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcatgttgacaaaggtccGcaggtctccccggggcagct	7	9	12	13	2	2	1	1	1	1	0	4	1	3	1	3	4	1	4	3	4	1	2			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr19:36381296G>A	ENST00000396901.1	-	10	1276	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	NFKBID_ENST00000352614.2_Missense_Mutation_p.R387W|NFKBID_ENST00000340950.2_Missense_Mutation_p.R72W|NFKBID_ENST00000606253.1_Missense_Mutation_p.R235W	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	235					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						ACAAAGGTCCGCAGGTCTCCC	0.617																																						ENST00000396901.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						c.(703-705)Cgg>Tgg		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta							56	61	59					19																	36381296		1975	4149	6124	SO:0001583	missense	84807				inflammatory response	nucleus		g.chr19:36381296G>A	AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"Ankyrin repeat domain containing"	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.703C>T	19.37:g.36381296G>A	ENSP00000380109:p.Arg235Trp					NFKBID_ENST00000340950.2_Missense_Mutation_p.R72W|NFKBID_ENST00000352614.2_Missense_Mutation_p.R387W|NFKBID_ENST00000606253.1_Missense_Mutation_p.R235W	p.R235W	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN			10	1276	-			235					Q8NI39|Q9BRG9	Missense_Mutation	SNP	ENST00000396901.1	37	c.703C>T	CCDS42552.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592018	0.66219	.	.	ENSG00000167604	ENST00000352614;ENST00000396901;ENST00000340950	T;T;T	0.65364	-0.15;-0.15;0.61	4.47	2.11	0.27256	Ankyrin repeat-containing domain (4);	0.145104	0.45606	D	0.000343	T	0.73048	0.3537	M	0.65677	2.01	0.32518	N	0.536686	D;D;D	0.89917	0.993;0.994;1.0	P;P;D	0.67382	0.555;0.683;0.951	T	0.79065	-0.1956	10	0.66056	D	0.02	-12.7797	11.5199	0.50545	0.0:0.0:0.6823:0.3177	.	387;235;72	Q8NI38-2;Q8NI38;Q8NI38-3	.;IKBD_HUMAN;.	W	387;235;72	ENSP00000252985:R387W;ENSP00000380109:R235W;ENSP00000343093:R72W	ENSP00000343093:R72W	R	-	1	2	NFKBID	41073136	0.551000	0.26497	1.000000	0.80357	0.964000	0.63967	0.649000	0.24843	0.974000	0.38366	0.462000	0.41574	CGG		0.617	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	NM_032721		7	40	0	0	0	1	0	7	40					A	36381296	G	A	36381296	3	1	444	1	0	0	0	0	1	0	0	0	10379	1086	38	1	250	1	NFKBID	19	36381296	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08		36381296	22747687	34	30611											
PEG3	5178	broad.mit.edu	37	chr19	57326531	57326531	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctgagggtcttccatGtctgagccttgaatgacagg	7	13	11	10	0	3	4	0	4	3	0	5	4	5	4	3	2	1	0	3	2	1	3			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr19:57326531G>A	ENST00000326441.9	-	10	3642	c.3279C>T	c.(3277-3279)gaC>gaT	p.D1093D	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.D967D|PEG3_ENST00000598410.1_Silent_p.D969D|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.D1093D	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1093					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			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)		GGTCTTCCATGTCTGAGCCTT	0.522																																						ENST00000326441.9																			0				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						c.(3277-3279)gaC>gaT		paternally expressed 3							124	118	120					19																	57326531		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326531G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3279C>T	19.37:g.57326531G>A						PEG3_ENST00000423103.2_Silent_p.D1093D|PEG3_ENST00000598410.1_Silent_p.D969D|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.D967D	p.D1093D	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	3642	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1093					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.3279C>T	CCDS12948.1																																																																																				0.522	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			41	60	0	0	0	1	0	41	60					A	57326531	G	A	57326531	2	1	444	1	0	0	0	0	0	0	0	1	11720	1368	48	3		3	PEG3	19	57326531	Silent	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08	20945235	57326531	1802452	35	30612											
BTBD3	22903	broad.mit.edu	37	chr20	11903707	11903707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggcactttacttgatccGcatacccacaatggccctcg	11	9	7	14	2	0	1	0	1	0	0	2	1	1	1	3	2	2	2	3	2	4	4			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr20:11903707G>A	ENST00000405977.1	+	5	1587	c.962G>A	c.(961-963)cGc>cAc	p.R321H	BTBD3_ENST00000399006.2_Missense_Mutation_p.R260H|BTBD3_ENST00000254977.3_Missense_Mutation_p.R260H|BTBD3_ENST00000378226.2_Missense_Mutation_p.R321H	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	321					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.R321H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						TACTTGATCCGCATACCCACA	0.473																																						ENST00000405977.1																			1	Substitution - Missense(1)	p.R321H(1)	kidney(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(961-963)cGc>cAc		BTB (POZ) domain containing 3							122	121	121					20																	11903707		2203	4300	6503	SO:0001583	missense	22903							g.chr20:11903707G>A	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"BTB/POZ domain containing"	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.962G>A	20.37:g.11903707G>A	ENSP00000384545:p.Arg321His					BTBD3_ENST00000254977.3_Missense_Mutation_p.R260H|BTBD3_ENST00000378226.2_Missense_Mutation_p.R321H|BTBD3_ENST00000399006.2_Missense_Mutation_p.R260H	p.R321H			Q9Y2F9	BTBD3_HUMAN			5	1587	+			321					D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.962G>A	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745357	0.89663	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226	D;D;D;D	0.84442	-1.82;-1.82;-1.85;-1.85	6.16	6.16	0.99307	BTB/Kelch-associated (1);	0.000000	0.85682	D	0.000000	D	0.92570	0.7640	M	0.83774	2.66	0.80722	D	1	D	0.67145	0.996	P	0.61477	0.889	D	0.92618	0.6105	10	0.87932	D	0	.	19.848	0.96722	0.0:0.0:1.0:0.0	.	321	Q9Y2F9	BTBD3_HUMAN	H	260;260;321;321	ENSP00000254977:R260H;ENSP00000381971:R260H;ENSP00000384545:R321H;ENSP00000367471:R321H	ENSP00000254977:R260H	R	+	2	0	BTBD3	11851707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	CGC		0.473	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			4	96	0	0	0	1	0	4	96					A	11903707	G	A	11903707	3	1	444	1	0	0	0	0	1	0	0	0	1544	1087	38	1	976	1	BTBD3	20	11903707	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08		11903707	51121813	36	30613											
CHD6	84181	broad.mit.edu	37	chr20	40049644	40049655	+	In_Frame_Del	DEL	GTTTTCCTCCTC	GTTTTCCTCCTC	-																															atgcctactgccatggctaaGttttcctcctcgttttcctc																										TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr20:40049644_40049655delGTTTTCCTCCTC	ENST00000373233.3	-	31	5797_5808	c.5620_5631delGAGGAGGAAAAC	c.(5620-5631)gaggaggaaaacdel	p.EEEN1874del		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1874					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCATGGCTAAgttttcctcctcgttttcctcc	0.429																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(5620-5631)del		chromodomain helicase DNA binding protein 6																																				SO:0001651	inframe_deletion	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40049644_40049655delGTTTTCCTCCTC	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5620_5631delGAGGAGGAAAAC	20.37:g.40049644_40049655delGTTTTCCTCCTC	ENSP00000362330:p.Glu1874_Asn1877del						p.EEEN1874del	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			31	5797_5808	-		Myeloproliferative disorder(115;0.00425)	1874			Poly-Glu.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	In_Frame_Del	DEL	ENST00000373233.3	37	c.5620_5631delGAGGAGGAAAAC	CCDS13317.1																																																																																				0.429	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			13	40						13	40	---	---	---	---	-	40049655	GTTTTCCTCCTC	-	40049644	7	5	444	1	0	1	0	1	0	0	0	0	3329	1020	36	0	2544	0	CHD6	20	40049644	In_Frame_Del	DEL	GTTTTCCTCCTC	TCGA-XQ-A8TB-01A-11D-A364-08	28145937	40049644	22975876	37	30614											
MICAL3	57553	broad.mit.edu	37	chr22	18389469	18389477	+	In_Frame_Del	DEL	TCACAGAGC	TCACAGAGC	-																															ttggctttagttccaggtggTcacagagctcctggaaagcc																										TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr22:18389469_18389477delTCACAGAGC	ENST00000441493.2	-	2	454_462	c.102_110delGCTCTGTGA	c.(100-111)gagctctgtgac>gac	p.ELC34del	MICAL3_ENST00000207726.7_In_Frame_Del_p.ELC34del|MICAL3_ENST00000414725.2_In_Frame_Del_p.ELC34del|MICAL3_ENST00000429452.1_In_Frame_Del_p.ELC34del|MICAL3_ENST00000585038.1_In_Frame_Del_p.ELC34del|MICAL3_ENST00000400561.2_In_Frame_Del_p.ELC34del|MICAL3_ENST00000383094.3_In_Frame_Del_p.ELC34del|MICAL3_ENST00000444520.1_In_Frame_Del_p.ELC34del	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	34	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTCCAGGTGGTCACAGAGCTCCTGGAAAG	0.526																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(100-111)gac>ga		microtubule associated monooxygenase, calponin and LIM domain containing 3																																				SO:0001651	inframe_deletion	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18389469_18389477delTCACAGAGC	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.102_110delGCTCTGTGA	22.37:g.18389469_18389477delTCACAGAGC	ENSP00000416015:p.Glu34_Cys36del					MICAL3_ENST00000207726.7_In_Frame_Del_p.ELCD34del|MICAL3_ENST00000400561.2_In_Frame_Del_p.ELCD34del|MICAL3_ENST00000429452.1_In_Frame_Del_p.ELCD34del|MICAL3_ENST00000383094.3_In_Frame_Del_p.ELCD34del|MICAL3_ENST00000444520.1_In_Frame_Del_p.ELCD34del|MICAL3_ENST00000414725.2_In_Frame_Del_p.ELCD34del|MICAL3_ENST00000585038.1_In_Frame_Del_p.ELCD34del	p.ELCD34del	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	2	454_462	-		all_epithelial(15;0.198)	34					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	In_Frame_Del	DEL	ENST00000441493.2	37	c.102_110delGCTCTGTGA	CCDS46659.1																																																																																				0.526	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			13	148						13	148	---	---	---	---	-	18389477	TCACAGAGC	-	18389469	7	5	444	1	0	1	0	1	0	0	0	0	9571	1667	58	0	6759	0	MICAL3	22	18389469	In_Frame_Del	DEL	TCACAGAGC	TCGA-XQ-A8TB-01A-11D-A364-08		18389469	32915097	38	30615											
CSDC2	27254	broad.mit.edu	37	chr22	41969756	41969756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacccccgagaacgggtccGaggacatcttcgtacatgtg	9	8	11	13	4	2	1	1	0	1	1	4	4	3	2	3	2	2	1	3	2	2	2			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr22:41969756G>A	ENST00000306149.7	+	3	818	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	92	CSD.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			prostate(2)|upper_aerodigestive_tract(1)	3						GAACGGGTCCGAGGACATCTT	0.607																																					NSCLC(181;294 2110 12667 14717 31090)	ENST00000306149.7																			0				prostate(2)|upper_aerodigestive_tract(1)	3						c.(274-276)Gag>Aag		cold shock domain containing C2, RNA binding							130	111	117					22																	41969756		2203	4300	6503	SO:0001583	missense	27254				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding	g.chr22:41969756G>A	AL834417	CCDS14019.1	22q13.2	2006-02-24			ENSG00000172346	ENSG00000172346			30359	protein-coding gene	gene with protein product						8573167, 12767259	Standard	NM_014460		Approved	PIPPin	uc003bak.1	Q9Y534	OTTHUMG00000150967	ENST00000306149.7:c.274G>A	22.37:g.41969756G>A	ENSP00000302485:p.Glu92Lys						p.E92K	NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN			3	818	+			92			CSD.		Q8ND37	Missense_Mutation	SNP	ENST00000306149.7	37	c.274G>A	CCDS14019.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809793	0.70797	.	.	ENSG00000172346	ENST00000306149;ENST00000460790	.	.	.	5.24	5.24	0.73138	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);Cold-shock conserved site (1);	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	N	0.17379	0.485	0.80722	D	1	D	0.55385	0.971	P	0.51324	0.666	T	0.37526	-0.9702	9	0.19590	T	0.45	.	18.8376	0.92169	0.0:0.0:1.0:0.0	.	92	Q9Y534	CSDC2_HUMAN	K	92;75	.	ENSP00000302485:E92K	E	+	1	0	CSDC2	40299702	1.000000	0.71417	0.942000	0.38095	0.916000	0.54674	9.764000	0.98949	2.451000	0.82905	0.555000	0.69702	GAG		0.607	CSDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320689.1	NM_014460		13	24	0	0	0	1	0	13	24					A	41969756	G	A	41969756	3	1	444	1	0	0	0	0	1	0	0	0	3928	1059	37	2	280	2	CSDC2	22	41969756	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08	23580287	41969756	9334810	39	30616											
COL4A5	1287	broad.mit.edu	37	chrX	107840258	107840258	+	Frame_Shift_Del	DEL	A	A	-																															tttccctggacagaaaggggAaaaaggacaagctggtgcaa																										TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chrX:107840258delA	ENST00000361603.2	+	23	1791	c.1547delA	c.(1546-1548)gaafs	p.E516fs	COL4A5_ENST00000328300.6_Frame_Shift_Del_p.E516fs	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	516	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			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						CAGAAAGGGGAAAAAGGACAA	0.398									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				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						c.(1546-1548)gafs		collagen, type IV, alpha 5							109	89	95					X																	107840258		2202	4299	6501	SO:0001589	frameshift_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107840258delA	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1547delA	X.37:g.107840258delA	ENSP00000354505:p.Glu516fs					COL4A5_ENST00000361603.2_Frame_Shift_Del_p.E516fs	p.E516fs	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			23	1791	+			516			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Frame_Shift_Del	DEL	ENST00000361603.2	37	c.1547delA	CCDS14543.1																																																																																				0.398	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			2	4						2	4	---	---	---	---	-	107840258	A	-	107840258	7	5	444	1	0	1	0	1	0	0	0	0	3694	246	9	0	1637	0	COL4A5	23	107840258	Frame_Shift_Del	DEL	A	TCGA-XQ-A8TB-01A-11D-A364-08		107840258	47430302	40	30617											
AP4B1	10717	broad.mit.edu	37	chr1	114438637	114438637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagaagagacctcggtcccGtacagccatatctttttctt	10	13	7	11	2	2	2	0	0	2	2	4	3	3	2	3	1	2	1	3	1	4	6			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr1:114438637G>A	ENST00000369569.1	-	9	1814	c.1534C>T	c.(1534-1536)Cgg>Tgg	p.R512W	AP4B1_ENST00000369567.1_Missense_Mutation_p.R344W|AP4B1_ENST00000256658.4_Missense_Mutation_p.R512W|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	512					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTCGGTCCCGTACAGCCATA	0.423																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(1534-1536)Cgg>Tgg		adaptor-related protein complex 4, beta 1 subunit							79	77	78					1																	114438637		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114438637G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1534C>T	1.37:g.114438637G>A	ENSP00000358582:p.Arg512Trp					AP4B1_ENST00000256658.4_Missense_Mutation_p.R512W|AP4B1_ENST00000369567.1_Missense_Mutation_p.R344W|AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	p.R512W	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		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)	9	1814	-	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)	512					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.1534C>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126256	0.77549	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.35973	1.28;1.28;1.28	5.86	4.92	0.64577	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.108147	0.64402	D	0.000006	T	0.60702	0.2289	M	0.89658	3.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.67707	-0.5601	10	0.87932	D	0	.	14.0987	0.65039	0.0:0.0:0.7302:0.2698	.	512;344;512	B2RBF6;B1ALD0;Q9Y6B7	.;.;AP4B1_HUMAN	W	344;512;512	ENSP00000358580:R344W;ENSP00000358582:R512W;ENSP00000256658:R512W	ENSP00000256658:R512W	R	-	1	2	AP4B1	114240160	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.985000	0.63845	2.771000	0.95319	0.563000	0.77884	CGG		0.423	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		6	46	0	0	0	1	0	6	46					A	114438637	G	A	114438637	3	1	445	1	0	0	0	0	1	0	0	0	751	1144	40	1	693	1	AP4B1	1	114438637	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08		114438637	134811984	1	30618											
CFHR2	3080	broad.mit.edu	37	chr1	196928040	196928040	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taatatcacaagaaattatgGaaaaatataacataaaatta	24	11	3	3	0	1	1	1	0	0	1	1	2	1	2	0	1	1	0	0	1	12	7			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr1:196928040G>T	ENST00000367415.5	+	5	743	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Nonsense_Mutation_p.E215*|CFHR2_ENST00000476712.2_Nonsense_Mutation_p.E199*	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	215	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						AGAAATTATGGAAAAATATAA	0.284																																						ENST00000367415.4																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(643-645)Gaa>Taa		complement factor H-related 2							35	37	36					1																	196928040		2180	4278	6458	SO:0001587	stop_gained	3080					extracellular region		g.chr1:196928040G>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.643G>T	1.37:g.196928040G>T	ENSP00000356385:p.Glu215*					CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Nonsense_Mutation_p.E215*	p.E215*	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN			5	757	+			215			Sushi 4.		Q14310|Q5T9T1	Nonsense_Mutation	SNP	ENST00000367415.5	37	c.643G>T	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	8.833	0.940290	0.18281	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	.	.	.	3.2	-0.313	0.12754	.	0.716365	0.11454	N	0.562462	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	7.0532	0.25085	0.3807:0.0:0.6193:0.0	.	.	.	.	X	215	.	ENSP00000356385:E215X	E	+	1	0	CFHR2	195194663	0.060000	0.20803	0.002000	0.10522	0.014000	0.08584	-0.332000	0.07904	-0.187000	0.10516	0.543000	0.68304	GAA		0.284	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		9	45	1	0	1.76689e-08	1	1.97724e-08	9	45					T	196928040	G	T	196928040	4	4	445	1	0	0	0	0	0	1	0	0	3285	1175	41	5	661	5	CFHR2	1	196928040	Nonsense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08	82489403	196928040	52322581	2	30619											
INTS7	25896	broad.mit.edu	37	chr1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-																															accgtgtgtaggcattgcgtTgctgctgctgctgtaatggc																										TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_ENST00000440600.2_In_Frame_Del_p.905_906QQ>Q|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_In_Frame_Del_p.934_935QQ>Q|INTS7_ENST00000366993.3_In_Frame_Del_p.940_941QQ>Q	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	954	Gln-rich.				cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCATTGCGTTGCTGCTGCTGCT	0.443																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2860-2865)caa>ca		integrator complex subunit 7																																				SO:0001651	inframe_deletion	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115191_212115193delTGC	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"chromosome 1 open reading frame 73"	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2862_2864delGCA	1.37:g.212115200_212115202delTGC	ENSP00000355961:p.Gln955del					INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000469606.1_5'UTR	p.QQ954del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2966_2968	-			954			Gln-rich.		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	In_Frame_Del	DEL	ENST00000366994.3	37	c.2862_2864delGCA	CCDS1501.1																																																																																				0.443	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		7	189						7	189	---	---	---	---	-	212115193	TGC	-	212115191	7	5	445	1	0	1	0	1	0	0	0	0	7783	1812	63	0	28	0	INTS7	1	212115191	In_Frame_Del	DEL	TGC	TCGA-Y6-A8TL-01A-21D-A377-08	15187151	212115191	37135430	3	30620											
PTCD3	55037	broad.mit.edu	37	chr2	86354404	86354404	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccagccttacaggttttaCgtgaaatgaaagccattgga	12	10	10	9	2	0	2	0	2	0	0	0	3	0	3	3	2	4	1	3	2	4	4	rs577965556		TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr2:86354404C>A	ENST00000254630.7	+	13	1138	c.1072C>A	c.(1072-1074)Cgt>Agt	p.R358S		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	358					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						ACAGGTTTTACGTGAAATGAA	0.448																																						ENST00000254630.7																			0				NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						c.(1072-1074)Cgt>Agt		pentatricopeptide repeat domain 3							126	126	126					2																	86354404		2203	4300	6503	SO:0001583	missense	55037					mitochondrion	protein binding	g.chr2:86354404C>A		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1072C>A	2.37:g.86354404C>A	ENSP00000254630:p.Arg358Ser						p.R358S	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN			13	1138	+			358					A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	c.1072C>A	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	C	1.604	-0.525729	0.04141	.	.	ENSG00000132300	ENST00000254630	T	0.31769	1.48	6.17	3.1	0.35709	.	0.354694	0.37095	N	0.002253	T	0.17704	0.0425	L	0.35487	1.065	0.80722	D	1	B	0.24258	0.1	B	0.26094	0.066	T	0.05273	-1.0895	10	0.11794	T	0.64	-11.2358	4.624	0.12469	0.314:0.5127:0.0:0.1733	.	358	Q96EY7	PTCD3_HUMAN	S	358	ENSP00000254630:R358S	ENSP00000254630:R358S	R	+	1	0	PTCD3	86207915	0.965000	0.33210	0.519000	0.27824	0.204000	0.24138	2.293000	0.43558	1.642000	0.50584	-0.123000	0.14984	CGT		0.448	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		32	73	1	0	2.42023e-17	1	2.84377e-17	32	73					A	86354404	C	A	86354404	3	1	445	1	0	0	0	0	1	0	0	0	12729	536	19	5	1122	5	PTCD3	2	86354404	Missense_Mutation	SNP	C	TCGA-Y6-A8TL-01A-21D-A377-08		86354404	156844969	4	30621											
FGB	2244	broad.mit.edu	37	chr4	155490938	155490938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagcacgtatgacagaGacaatgacggctggtatgtg	11	10	12	8	2	2	3	1	2	1	1	2	4	2	3	0	2	1	4	0	2	3	3			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr4:155490938G>T	ENST00000302068.4	+	7	1294	c.1231G>T	c.(1231-1233)Gac>Tac	p.D411Y	FGB_ENST00000509493.1_Missense_Mutation_p.D192Y|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	411	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			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)	GTATGACAGAGACAATGACGG	0.428																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				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						c.(1231-1233)Gac>Tac		fibrinogen beta chain	Sucralfate(DB00364)						147	125	133					4																	155490938		2203	4300	6503	SO:0001583	missense	2244				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	g.chr4:155490938G>T		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1231G>T	4.37:g.155490938G>T	ENSP00000306099:p.Asp411Tyr					FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.D192Y	p.D411Y	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			7	1294	+	all_hematologic(180;0.215)	Renal(120;0.0458)	411			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.1231G>T	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152366	0.78001	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	D;D	0.86562	-2.14;-2.14	5.73	5.73	0.89815	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.96759	0.8942	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97767	1.0224	10	0.87932	D	0	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	394;411	B4E1D3;P02675	.;FIBB_HUMAN	Y	411;394;192	ENSP00000306099:D411Y;ENSP00000426757:D192Y	ENSP00000306099:D411Y	D	+	1	0	FGB	155710388	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	9.827000	0.99397	2.861000	0.98227	0.655000	0.94253	GAC		0.428	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		14	58	1	0	2.62699e-14	1	3.01143e-14	14	58					T	155490938	G	T	155490938	3	4	445	1	0	0	0	0	1	0	0	0	5831	942	33	5	1257	5	FGB	4	155490938	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08		155490938	35663338	5	30622											
CDH6	1004	broad.mit.edu	37	chr5	31317789	31317789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggttccagacaacacggCgggaatcttaactcggaaaa	13	7	10	11	4	1	1	0	0	1	1	4	3	3	3	2	4	2	1	2	4	5	2			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr5:31317789C>T	ENST00000265071.2	+	11	1905	c.1640C>T	c.(1639-1641)gCg>gTg	p.A547V	CDH6_ENST00000514738.1_Missense_Mutation_p.A492V	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	547	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						GACAACACGGCGGGAATCTTA	0.418																																						ENST00000265071.2																			0				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						c.(1639-1641)gCg>gTg		cadherin 6, type 2, K-cadherin (fetal kidney)							111	107	108					5																	31317789		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31317789C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1640C>T	5.37:g.31317789C>T	ENSP00000265071:p.Ala547Val					CDH6_ENST00000514738.1_Missense_Mutation_p.A492V	p.A547V	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			11	1905	+			547			Cadherin 5.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1640C>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	c	31	5.090010	0.94149	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.59083	0.29;0.29	4.76	4.76	0.60689	Cadherin (4);Cadherin-like (1);	0.049907	0.85682	D	0.000000	D	0.83681	0.5307	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.972	D	0.89026	0.3438	10	0.72032	D	0.01	.	18.3255	0.90252	0.0:1.0:0.0:0.0	.	547;547	P55285;P55285-2	CADH6_HUMAN;.	V	492;547	ENSP00000424843:A492V;ENSP00000265071:A547V	ENSP00000265071:A547V	A	+	2	0	CDH6	31353546	1.000000	0.71417	0.806000	0.32338	0.981000	0.71138	7.606000	0.82863	2.622000	0.88805	0.651000	0.88453	GCG		0.418	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		12	122	0	0	0	1	0	12	122					T	31317789	C	T	31317789	3	4	445	1	0	0	0	0	1	0	0	0	3114	768	27	1	1678	1	CDH6	5	31317789	Missense_Mutation	SNP	C	TCGA-Y6-A8TL-01A-21D-A377-08		31317789	149597471	6	30623											
MAP1B	4131	broad.mit.edu	37	chr5	71492635	71492635	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgagaccaacaatgaagaGacggagtccccttctcagga	14	6	11	10	1	1	3	1	2	1	2	3	8	2	5	3	2	1	0	3	2	3	1			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr5:71492635G>A	ENST00000296755.7	+	5	3751	c.3453G>A	c.(3451-3453)gaG>gaA	p.E1151E		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1151					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			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)		ACAATGAAGAGACGGAGTCCC	0.453																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				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						c.(3451-3453)gaG>gaA		microtubule-associated protein 1B							62	60	61					5																	71492635		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492635G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3453G>A	5.37:g.71492635G>A							p.E1151E	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	3751	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1151					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.3453G>A	CCDS4012.1																																																																																				0.453	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		4	39	0	0	0	1	0	4	39					A	71492635	G	A	71492635	2	1	445	1	0	0	0	0	0	0	0	1	9228	933	33	3		3	MAP1B	5	71492635	Silent	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08	40174846	71492635	109422625	7	30624											
ANXA6	309	broad.mit.edu	37	chr5	150510817	150510817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagccttgaagagcctttcaGcaaaatattccggggtgctc	10	11	10	10	1	1	2	1	1	0	1	3	2	2	2	3	2	4	2	3	2	5	5			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr5:150510817G>T	ENST00000354546.5	-	11	997	c.770C>A	c.(769-771)gCt>gAt	p.A257D	ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.A225D|ANXA6_ENST00000356496.5_Missense_Mutation_p.A257D	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	257					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCCTTTCAGCAAAATATTC	0.527																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(769-771)gCt>gAt		annexin A6							143	145	144					5																	150510817		1889	4125	6014	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150510817G>T	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"Annexins"	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.770C>A	5.37:g.150510817G>T	ENSP00000346550:p.Ala257Asp					ANXA6_ENST00000523714.1_Missense_Mutation_p.A225D|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.A257D	p.A257D	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	997	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	257					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.770C>A	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115507	0.94339	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000356496;ENST00000540153	T;T;T	0.33654	1.4;1.4;1.4	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.79534	0.4462	H	0.99794	4.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89549	0.3798	10	0.87932	D	0	.	17.794	0.88564	0.0:0.0:1.0:0.0	.	257;257	A6NN80;P08133	.;ANXA6_HUMAN	D	257;225;257;131	ENSP00000346550:A257D;ENSP00000430517:A225D;ENSP00000348889:A257D	ENSP00000346550:A257D	A	-	2	0	ANXA6	150491010	1.000000	0.71417	0.993000	0.49108	0.918000	0.54935	8.379000	0.90146	2.496000	0.84212	0.655000	0.94253	GCT		0.527	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		4	136	1	0	0.0215528	1	0.0220213	4	136					T	150510817	G	T	150510817	3	4	445	1	0	0	0	0	1	0	0	0	722	971	34	5	1315	5	ANXA6	5	150510817	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08	79018182	150510817	30404443	8	30625											
FGD2	221472	broad.mit.edu	37	chr6	36993603	36993603	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctccgactaccgggccgaActgaaatacgacgacaacag	13	5	10	13	5	0	1	0	1	0	0	1	5	1	1	3	1	5	1	3	1	5	2			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr6:36993603A>G	ENST00000274963.8	+	14	1665	c.1494A>G	c.(1492-1494)gaA>gaG	p.E498E		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	498					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ACCGGGCCGAACTGAAATACG	0.622																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(1492-1494)gaA>gaG		FYVE, RhoGEF and PH domain containing 2							140	110	120					6																	36993603		2203	4300	6503	SO:0001819	synonymous_variant	221472				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	g.chr6:36993603A>G	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3664	protein-coding gene	gene with protein product		605091	"FGD1 family, member 2"			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1494A>G	6.37:g.36993603A>G							p.E498E	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			14	1665	+			498					Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	ENST00000274963.8	37	c.1494A>G	CCDS4829.1																																																																																				0.622	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		6	48	0	0	0	1	0	6	48					G	36993603	A	G	36993603	2	3	445	1	0	0	0	0	0	0	0	1	5833	40	2	4		4	FGD2	6	36993603	Silent	SNP	A	TCGA-Y6-A8TL-01A-21D-A377-08		36993603	134121464	9	30626											
CLN8	2055	broad.mit.edu	37	chr8	1728426	1728426	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctccatgcaggcgggctggtCcgagtctctgttttggaagc	5	11	14	11	2	1	0	0	0	1	0	4	2	3	1	2	4	2	3	2	4	1	2			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr8:1728426C>G	ENST00000331222.4	+	3	801	c.554C>G	c.(553-555)tCc>tGc	p.S185C	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	185	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		GCGGGCTGGTCCGAGTCTCTG	0.463																																					Pancreas(155;338 1942 6138 10888 50612)	ENST00000331222.4																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(553-555)tCc>tGc		ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)							124	97	106					8																	1728426		2203	4300	6503	SO:0001583	missense	2055				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		g.chr8:1728426C>G	AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"chromosome 8 open reading frame 61"	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.554C>G	8.37:g.1728426C>G	ENSP00000328182:p.Ser185Cys					CLN8_ENST00000523237.1_3'UTR	p.S185C	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)	3	801	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	185			TLC.		Q86U71|Q96I95	Missense_Mutation	SNP	ENST00000331222.4	37	c.554C>G	CCDS5956.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830021	0.32329	.	.	ENSG00000182372	ENST00000331222	D	0.85556	-2.0	5.17	5.17	0.71159	TRAM/LAG1/CLN8 homology domain (3);	0.194277	0.31507	U	0.007533	T	0.80204	0.4580	L	0.31294	0.92	0.54753	D	0.99998	B	0.18461	0.028	B	0.17433	0.018	T	0.75912	-0.3150	10	0.54805	T	0.06	-14.436	18.6661	0.91491	0.0:1.0:0.0:0.0	.	185	Q9UBY8	CLN8_HUMAN	C	185	ENSP00000328182:S185C	ENSP00000328182:S185C	S	+	2	0	CLN8	1715833	1.000000	0.71417	0.840000	0.33206	0.040000	0.13550	7.129000	0.77225	2.400000	0.81607	0.650000	0.86243	TCC		0.463	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		13	59	0	0	0	1	0	13	59					G	1728426	C	G	1728426	3	3	445	1	0	0	0	0	1	0	0	0	3546	855	30	5	560	5	CLN8	8	1728426	Missense_Mutation	SNP	C	TCGA-Y6-A8TL-01A-21D-A377-08		1728426	144635596	10	30627											
CSMD1	64478	broad.mit.edu	37	chr8	2886875	2886875	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcatctcctatgttccaCgtcccattggcctggcaccg	5	12	7	17	2	2	0	1	0	2	0	6	0	4	0	5	2	0	2	5	2	1	3			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr8:2886875C>T	ENST00000520002.1	-	52	8379	c.7824G>A	c.(7822-7824)acG>acA	p.T2608T	CSMD1_ENST00000400186.3_Silent_p.T2608T|CSMD1_ENST00000542608.1_Silent_p.T2607T|CSMD1_ENST00000537824.1_Silent_p.T2607T|CSMD1_ENST00000602557.1_Silent_p.T2608T|CSMD1_ENST00000602723.1_Silent_p.T2608T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2608	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				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)		CTATGTTCCACGTCCCATTGG	0.522																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(7822-7824)acG>acA		CUB and Sushi multiple domains 1							94	94	94					8																	2886875		2020	4186	6206	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2886875C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7824G>A	8.37:g.2886875C>T						CSMD1_ENST00000542608.1_Silent_p.T2607T|CSMD1_ENST00000520002.1_Silent_p.T2608T|CSMD1_ENST00000537824.1_Silent_p.T2607T|CSMD1_ENST00000400186.3_Silent_p.T2608T|CSMD1_ENST00000602723.1_Silent_p.T2608T	p.T2608T			Q96PZ7	CSMD1_HUMAN		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)	52	8379	-		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)	2608			Sushi 16.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.7824G>A		.	.	.	.	.	.	.	.	.	.	C	3.374	-0.127819	0.06753	.	.	ENSG00000183117	ENST00000335551	.	.	.	4.88	-7.64	0.01286	.	.	.	.	.	T	0.37919	0.1021	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41106	-0.9527	4	.	.	.	.	3.9963	0.09559	0.0832:0.1086:0.3355:0.4728	.	.	.	.	M	2025	.	.	V	-	1	0	CSMD1	2874282	0.971000	0.33674	0.490000	0.27465	0.266000	0.26442	-0.076000	0.11412	-1.686000	0.01439	0.591000	0.81541	GTG		0.522	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		10	36	0	0	0	1	0	10	36					T	2886875	C	T	2886875	2	4	445	1	0	0	0	0	0	0	0	1	3944	523	19	1		1	CSMD1	8	2886875	Silent	SNP	C	TCGA-Y6-A8TL-01A-21D-A377-08	1158449	2886875	143477147	11	30628											
CDCA2	157313	broad.mit.edu	37	chr8	25340925	25340925	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgtttaggaacactgtaAcaacctctatgatgatgatg	12	14	8	7	0	2	3	0	3	2	0	2	4	2	4	1	1	3	2	1	1	5	5			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr8:25340925A>T	ENST00000330560.3	+	9	1520	c.1043A>T	c.(1042-1044)aAc>aTc	p.N348I	CDCA2_ENST00000380665.3_Missense_Mutation_p.N333I|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	348					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				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)		GAACACTGTAACAACCTCTAT	0.323																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(1042-1044)aAc>aTc		cell division cycle associated 2							85	81	82					8																	25340925		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25340925A>T	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1043A>T	8.37:g.25340925A>T	ENSP00000328228:p.Asn348Ile					CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.N333I	p.N348I	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	9	1520	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	348					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.1043A>T	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	A	7.350	0.622728	0.14193	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.31247	1.5;1.5	5.19	1.56	0.23342	.	0.886730	0.09925	N	0.737890	T	0.20740	0.0499	L	0.36672	1.1	0.09310	N	1	B;P;P	0.43094	0.399;0.799;0.799	B;B;B	0.38020	0.101;0.263;0.263	T	0.16808	-1.0390	10	0.62326	D	0.03	-2.3379	3.9039	0.09174	0.6277:0.1848:0.1875:0.0	.	348;333;348	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	I	348;333	ENSP00000328228:N348I;ENSP00000370040:N333I	ENSP00000328228:N348I	N	+	2	0	CDCA2	25396842	0.001000	0.12720	0.018000	0.16275	0.005000	0.04900	0.079000	0.14782	0.473000	0.27368	0.528000	0.53228	AAC		0.323	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		31	60	0	0	0	1	0	31	60					T	25340925	A	T	25340925	3	4	445	1	0	0	0	0	1	0	0	0	3086	43	2	5	1073	5	CDCA2	8	25340925	Missense_Mutation	SNP	A	TCGA-Y6-A8TL-01A-21D-A377-08	22454050	25340925	121023097	12	30629											
NBN	4683	broad.mit.edu	37	chr8	90965618	90965618	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctggttttgtgtccttgaAtaactgttccaatacttcat	8	18	6	9	0	2	1	1	1	1	0	4	1	4	1	2	1	2	2	2	1	4	7			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr8:90965618A>G	ENST00000265433.3	-	11	1853	c.1699T>C	c.(1699-1701)Ttc>Ctc	p.F567L	NBN_ENST00000409330.1_Missense_Mutation_p.F485L	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	567					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			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)			GTGTCCTTGAATAACTGTTCC	0.348								Homologous recombination																														ENST00000265433.3																			0				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						c.(1699-1701)Ttc>Ctc	Homologous recombination	nibrin							315	307	310					8																	90965618		2203	4300	6503	SO:0001583	missense	4683				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	g.chr8:90965618A>G	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1699T>C	8.37:g.90965618A>G	ENSP00000265433:p.Phe567Leu					NBN_ENST00000409330.1_Missense_Mutation_p.F485L	p.F567L	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		11	1853	-			567					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.1699T>C	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	A	0.813	-0.751371	0.03041	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.58797	2.04;0.31	5.29	-6.98	0.01611	.	1.040220	0.07535	N	0.912972	T	0.27169	0.0666	N	0.08118	0	0.09310	N	1	B;B	0.15141	0.005;0.012	B;B	0.12156	0.006;0.007	T	0.45131	-0.9282	10	0.02654	T	1	0.47	10.4341	0.44424	0.2293:0.0:0.6382:0.1325	.	567;567	A6H8Y5;O60934	.;NBN_HUMAN	L	567;485	ENSP00000265433:F567L;ENSP00000386924:F485L	ENSP00000265433:F567L	F	-	1	0	NBN	91034794	0.007000	0.16637	0.012000	0.15200	0.623000	0.37688	-0.352000	0.07701	-0.891000	0.03940	-1.017000	0.02453	TTC		0.348	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		17	133	0	0	0	1	0	17	133					G	90965618	A	G	90965618	3	3	445	1	0	0	0	0	1	0	0	0	10191	101	4	4	589	4	NBN	8	90965618	Missense_Mutation	SNP	A	TCGA-Y6-A8TL-01A-21D-A377-08	65624693	90965618	55398404	13	30630											
CTNNAL1	8727	broad.mit.edu	37	chr9	111714527	111714527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaataggccatactggacatGttccgtccatattgaacaat	13	11	8	9	1	0	1	0	1	0	0	2	3	2	2	3	2	2	1	3	2	6	5			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr9:111714527G>C	ENST00000325551.4	-	14	1883	c.1797C>G	c.(1795-1797)aaC>aaG	p.N599K	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.N515K|CTNNAL1_ENST00000374594.1_5'UTR|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.N599K	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	599					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TACTGGACATGTTCCGTCCAT	0.358																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(1795-1797)aaC>aaG		catenin (cadherin-associated protein), alpha-like 1							145	132	136					9																	111714527		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111714527G>C	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1797C>G	9.37:g.111714527G>C	ENSP00000320434:p.Asn599Lys					CTNNAL1_ENST00000325580.6_Missense_Mutation_p.N515K|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.N599K|CTNNAL1_ENST00000374594.1_5'UTR	p.N599K			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	14	1876	-			599					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.1797C>G	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596708	0.66332	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	T;T;T	0.35048	1.33;1.33;1.33	4.79	2.92	0.33932	.	0.128388	0.64402	D	0.000001	T	0.41743	0.1172	M	0.68593	2.085	0.21020	N	0.9998	B;P;B;P;B	0.45283	0.425;0.557;0.425;0.855;0.425	B;B;B;P;B	0.50314	0.136;0.167;0.136;0.637;0.136	T	0.18398	-1.0338	10	0.33141	T	0.24	-10.1722	6.627	0.22835	0.3072:0.0:0.6928:0.0	.	599;515;599;599;599	B2RBI4;Q9UBT7-3;B3KMX6;Q9UBT7-2;Q9UBT7	.;.;.;.;CTNL1_HUMAN	K	599;599;515	ENSP00000363723:N599K;ENSP00000320434:N599K;ENSP00000323351:N515K	ENSP00000320434:N599K	N	-	3	2	CTNNAL1	110754348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.136000	0.58004	0.532000	0.28657	-0.253000	0.11424	AAC		0.358	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		24	53	0	0	0	1	0	24	53					C	111714527	G	C	111714527	3	2	445	1	0	0	0	0	1	0	0	0	4015	1368	48	5	431	5	CTNNAL1	9	111714527	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08		111714527	29498904	14	30631											
GDF10	2662	broad.mit.edu	37	chr10	48429072	48429072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcggggctcggggtctcCggcagggaaggggtcgtatc	4	7	20	10	5	1	0	0	0	1	0	5	1	1	1	1	8	1	3	1	8	2	1			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr10:48429072C>T	ENST00000224605.2	-	2	1079	c.814G>A	c.(814-816)Gga>Aga	p.G272R		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	272					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TCGGGGTCTCCGGCAGGGAAG	0.692																																						ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(814-816)Gga>Aga		growth differentiation factor 10							10	12	12					10																	48429072		2182	4284	6466	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48429072C>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"Endogenous ligands"	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.814G>A	10.37:g.48429072C>T	ENSP00000224605:p.Gly272Arg						p.G272R	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			2	1079	-			272					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.814G>A	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325660	0.60743	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.75938	-0.98	5.6	4.5	0.54988	.	0.258619	0.45361	D	0.000368	T	0.72993	0.3530	L	0.56769	1.78	0.09310	N	1	D;D	0.67145	0.993;0.996	P;P	0.53224	0.636;0.721	T	0.62964	-0.6742	10	0.16896	T	0.51	.	7.169	0.25708	0.0:0.7766:0.0:0.2234	.	82;272	Q8N6T2;P55107	.;BMP3B_HUMAN	R	82;272	ENSP00000224605:G272R	ENSP00000224605:G272R	G	-	1	0	GDF10	48049078	0.044000	0.20184	0.420000	0.26596	0.922000	0.55478	1.886000	0.39688	2.653000	0.90120	0.561000	0.74099	GGA		0.692	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		3	6	0	0	0	1	0	3	6					T	48429072	C	T	48429072	3	4	445	1	0	0	0	0	1	0	0	0	6311	661	23	2	630	2	GDF10	10	48429072	Missense_Mutation	SNP	C	TCGA-Y6-A8TL-01A-21D-A377-08		48429072	87105675	15	30632											
GBF1	8729	broad.mit.edu	37	chr10	104126872	104126872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctccccatttgccaatagcGatgcctgcttttccctggcc	5	12	8	16	1	0	0	0	0	0	0	2	1	2	0	6	1	4	2	6	1	2	4			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr10:104126872G>A	ENST00000369983.3	+	20	2721	c.2461G>A	c.(2461-2463)Gat>Aat	p.D821N		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	821	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGCCAATAGCGATGCCTGCTT	0.483																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(2461-2463)Gat>Aat		golgi brefeldin A resistant guanine nucleotide exchange factor 1							178	152	161					10																	104126872		2203	4300	6503	SO:0001583	missense	8729				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	g.chr10:104126872G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.2461G>A	10.37:g.104126872G>A	ENSP00000359000:p.Asp821Asn						p.D821N	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	20	2721	+		Colorectal(252;0.0236)	821			SEC7.		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.2461G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	36	5.781737	0.96929	.	.	ENSG00000107862	ENST00000369983	D	0.82619	-1.63	5.68	5.68	0.88126	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.042794	0.85682	D	0.000000	D	0.93112	0.7807	M	0.90705	3.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79784	0.993;0.984;0.968	D	0.93890	0.7179	10	0.87932	D	0	-14.1556	19.7782	0.96405	0.0:0.0:1.0:0.0	.	821;821;821	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	N	821	ENSP00000359000:D821N	ENSP00000359000:D821N	D	+	1	0	GBF1	104116862	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.676000	0.91093	0.563000	0.77884	GAT		0.483	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			6	216	0	0	0	1	0	6	216					A	104126872	G	A	104126872	3	1	445	1	0	0	0	0	1	0	0	0	6271	1058	37	2	2535	2	GBF1	10	104126872	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08	55697800	104126872	31407875	16	30633											
TPP1	6881	broad.mit.edu	37	chr11	6636110	6636111	+	5'Flank	INS	-	-	C																															acttacatcaaagagtcctgINSccccatgctgctggtagagc																										TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr11:6636110_6636111insC	ENST00000299424.4	-	0	0				TPP1_ENST00000534644.1_5'Flank|TPP1_ENST00000299427.6_Frame_Shift_Ins_p.A513fs|TPP1_ENST00000533371.1_Frame_Shift_Ins_p.A270fs|TAF10_ENST00000531760.1_5'Flank	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa						chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAAGAGTCCTGCCCCATGCTGC	0.54																																						ENST00000533371.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(808-810)aggfs		tripeptidyl peptidase I																																				SO:0001631	upstream_gene_variant	1200				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	g.chr11:6636110_6636111insC	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402		11.37:g.6636114_6636114dupC	Exception_encountered					TPP1_ENST00000299427.6_Frame_Shift_Ins_p.R513fs	p.R270fs			O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	11	1606_1607	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	513					O00703|Q13175|Q6FH13	Frame_Shift_Ins	INS	ENST00000299424.4	37	c.808_809insG	CCDS7769.1																																																																																				0.54	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2	NM_006284		120	314						120	314	---	---	---	---	C	6636111	-	C	6636110	6	5	445	0	1	1	1	0	0	0	0	0	16408	1319	46	0		0	TPP1	11	6636110	5'Flank	INS	-	TCGA-Y6-A8TL-01A-21D-A377-08		6636110	128370406	17	30634											
KRT6C	286887	broad.mit.edu	37	chr12	52865005	52865005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcgatgatgctgtccaGgtccaggttgcggttgttgt	5	13	14	9	2	1	1	1	1	0	0	3	2	3	1	2	3	3	4	2	3	0	3			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr12:52865005G>T	ENST00000252250.6	-	5	1035	c.988C>A	c.(988-990)Ctg>Atg	p.L330M		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	330	Linker 12.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		ATGCTGTCCAGGTCCAGGTTG	0.562																																						ENST00000252250.6																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(988-990)Ctg>Atg		keratin 6C							174	161	166					12																	52865005		2203	4300	6503	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52865005G>T	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.988C>A	12.37:g.52865005G>T	ENSP00000252250:p.Leu330Met						p.L330M	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	5	1035	-			330			Linker 12.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.988C>A	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973408	0.53614	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.94828	-3.53	3.46	3.46	0.39613	Filament (1);	0.000000	0.45606	D	0.000345	D	0.95037	0.8393	L	0.55017	1.72	0.31676	N	0.643692	D	0.60575	0.988	D	0.67382	0.951	D	0.92618	0.6105	10	0.21014	T	0.42	.	11.6655	0.51370	0.0:0.0:0.8222:0.1778	.	330	P48668	K2C6C_HUMAN	M	330;315	ENSP00000252250:L330M	ENSP00000252250:L330M	L	-	1	2	KRT6C	51151272	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.958000	0.40402	1.929000	0.55896	0.442000	0.29010	CTG		0.562	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		4	159	1	0	0.184627	1	0.184627	4	159					T	52865005	G	T	52865005	3	4	445	1	0	0	0	0	1	0	0	0	8482	991	35	5	726	5	KRT6C	12	52865005	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08		52865005	80986890	18	30635											
KRT4	3851	broad.mit.edu	37	chr12	53201525	53201525	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtactcacgcagcattcGtgccagctcctccttggcct	5	11	9	16	2	1	0	1	0	0	0	4	0	3	0	4	2	4	4	4	2	1	3			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr12:53201525G>A	ENST00000551956.1	-	7	1741	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*	KRT4_ENST00000293774.4_Nonsense_Mutation_p.R491*|KRT4_ENST00000458244.2_Nonsense_Mutation_p.R397*			P19013	K2C4_HUMAN	keratin 4	431	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CGCAGCATTCGTGCCAGCTCC	0.602																																					Pancreas(190;284 2995 41444 45903)	ENST00000293774.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(1471-1473)Cga>Tga		keratin 4							115	107	110					12																	53201525		2203	4300	6503	SO:0001587	stop_gained	3851					keratin filament	structural molecule activity	g.chr12:53201525G>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1249C>T	12.37:g.53201525G>A	ENSP00000448220:p.Arg417*					KRT4_ENST00000551956.1_Nonsense_Mutation_p.R417*|KRT4_ENST00000458244.2_Nonsense_Mutation_p.R397*	p.R491*			B4DRS2	B4DRS2_HUMAN			7	1741	-			417					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Nonsense_Mutation	SNP	ENST00000551956.1	37	c.1471C>T	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	G	32	5.164810	0.94727	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	.	.	.	5.47	1.29	0.21616	.	0.184798	0.27275	N	0.020102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0727	0.36502	0.0682:0.0:0.4517:0.48	.	.	.	.	X	417;491;397	.	ENSP00000293774:R491X	R	-	1	2	KRT4	51487792	0.995000	0.38212	1.000000	0.80357	0.887000	0.51463	2.314000	0.43743	0.755000	0.32990	0.561000	0.74099	CGA		0.602	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		34	56	0	0	0	1	0	34	56					A	53201525	G	A	53201525	4	1	445	1	0	0	0	0	0	1	0	0	8477	1153	40	1	325	1	KRT4	12	53201525	Nonsense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08	336520	53201525	80650370	19	30636											
POC1B	282809	broad.mit.edu	37	chr12	89885713	89885713	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaaattttttgcacttacTtggcacagcgtacccagtgt	10	14	8	9	1	0	1	0	1	0	0	0	1	0	1	1	1	4	3	1	1	3	6			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr12:89885713T>G	ENST00000313546.3	-	4	580	c.452A>C	c.(451-453)aAa>aCa	p.K151T	POC1B_ENST00000549504.1_Splice_Site_p.K21T|POC1B_ENST00000549035.1_Splice_Site_p.K109T|POC1B_ENST00000541909.1_Splice_Site_p.K21T|POC1B_ENST00000378528.2_Splice_Site_p.K21T|POC1B_ENST00000393179.4_Splice_Site_p.K21T	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	151					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TTGCACTTACTTGGCACAGCG	0.403																																						ENST00000393179.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.e2+1		POC1 centriolar protein B							97	95	96					12																	89885713		2203	4300	6503	SO:0001630	splice_region_variant	282809							g.chr12:89885713T>G	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.452+1A>C	12.37:g.89885713T>G						POC1B_ENST00000378528.2_Splice_Site_p.K21_splice|POC1B_ENST00000541909.1_Splice_Site_p.K21_splice|POC1B_ENST00000313546.3_Splice_Site_p.K151_splice|POC1B_ENST00000549504.1_Splice_Site_p.K21_splice|POC1B_ENST00000549035.1_Splice_Site_p.K109_splice	p.K21_splice							2	675	-								G3V1X0	Splice_Site	SNP	ENST00000313546.3	37	c.62_splice	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.924148	0.52653	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000378528;ENST00000549035;ENST00000541909;ENST00000549504	T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12	5.66	4.52	0.55395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.042981	0.85682	D	0.000000	T	0.54532	0.1864	N	0.13327	0.33	0.52099	D	0.999945	D	0.76494	0.999	D	0.68943	0.961	T	0.52102	-0.8620	9	.	.	.	.	8.5628	0.33520	0.0:0.1498:0.0:0.8502	.	151	Q8TC44	POC1B_HUMAN	T	21;151;21;109;21;21	ENSP00000376877:K21T;ENSP00000323302:K151T;ENSP00000367789:K21T;ENSP00000447916:K109T;ENSP00000440301:K21T	.	K	-	2	0	POC1B	88409844	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	0.870000	0.28010	0.986000	0.38683	-0.456000	0.05471	AAA;AAA;AAA;AAA;AAA;AAG		0.403	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240	Missense_Mutation	19	100	0	0	0	1	0	19	100					G	89885713	T	G	89885713	5	3	445	1	0	0	0	0	0	0	1	0	12176	1623	56	5	1020	5	POC1B	12	89885713	Splice_Site	SNP	T	TCGA-Y6-A8TL-01A-21D-A377-08	36684188	89885713	43966182	20	30637											
COQ5	84274	broad.mit.edu	37	chr12	120966916	120966916	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacggccgcaatagctcCatagagcacagctcccgggg	10	4	11	16	3	0	1	0	0	0	1	2	1	2	1	4	3	3	4	4	3	3	2			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr12:120966916C>T	ENST00000288532.6	-	1	69	c.29G>A	c.(28-30)tGg>tAg	p.W10*	COQ5_ENST00000445328.2_Nonsense_Mutation_p.W10*	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	10					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAATAGCTCCATAGAGCACA	0.662																																						ENST00000288532.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20						c.(28-30)tGg>tAg		coenzyme Q5 homolog, methyltransferase (S. cerevisiae)							19	22	21					12																	120966916		2202	4300	6502	SO:0001587	stop_gained	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120966916C>T	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"		"coenzyme Q5 homolog, methyltransferase (yeast)"				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.29G>A	12.37:g.120966916C>T	ENSP00000288532:p.Trp10*					COQ5_ENST00000445328.2_Nonsense_Mutation_p.W10*	p.W10*	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN			1	69	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		10					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Nonsense_Mutation	SNP	ENST00000288532.6	37	c.29G>A	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477673	0.84640	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000547943	.	.	.	5.66	5.66	0.87406	.	0.540114	0.22228	N	0.062851	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	17.2476	0.87032	0.0:1.0:0.0:0.0	.	.	.	.	X	10	.	ENSP00000288532:W10X	W	-	2	0	COQ5	119451299	0.068000	0.21057	0.070000	0.20053	0.017000	0.09413	1.844000	0.39269	2.690000	0.91761	0.655000	0.94253	TGG		0.662	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		5	22	0	0	0	1	0	5	22					T	120966916	C	T	120966916	4	4	445	1	0	0	0	0	0	1	0	0	3748	595	21	3	982	3	COQ5	12	120966916	Nonsense_Mutation	SNP	C	TCGA-Y6-A8TL-01A-21D-A377-08	31081203	120966916	12884979	21	30638											
SAP18	10284	broad.mit.edu	37	chr13	21721465	21721465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccacctccttcagggcGcatgagaccatattaaattc	11	9	8	13	1	1	1	1	1	0	1	3	2	2	1	4	2	0	2	4	2	3	4	rs376710499		TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr13:21721465G>A	ENST00000607003.1	+	4	478	c.446G>A	c.(445-447)cGc>cAc	p.R149H	SAP18_ENST00000382533.4_Missense_Mutation_p.R168H			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	149	Involved in splicing regulation activity.				mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.R149H(1)		kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		CCTTCAGGGCGCATGAGACCA	0.403																																						ENST00000382533.4																			1	Substitution - Missense(1)	p.R149H(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(4)	6						c.(502-504)cGc>cAc		Sin3A-associated protein, 18kDa		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	104	109	107		503	4.1	1	13		107	0,8600		0,0,4300	no	missense	SAP18	NM_005870.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	168/173	21721465	1,13005	2203	4300	6503	SO:0001583	missense	10284				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity	g.chr13:21721465G>A	U96915	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459			10530	protein-coding gene	gene with protein product		602949	"sin3A-associated protein, 18kDa"			9150135	Standard	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	O00422	OTTHUMG00000016535	ENST00000607003.1:c.446G>A	13.37:g.21721465G>A	ENSP00000475925:p.Arg149His					SAP18_ENST00000607003.1_Missense_Mutation_p.R149H	p.R168H	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)	4	542	+		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	149					B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Missense_Mutation	SNP	ENST00000607003.1	37	c.503G>A		.	.	.	.	.	.	.	.	.	.	G	18.41	3.617576	0.66787	2.27E-4	0.0	ENSG00000150459	ENST00000382533	.	.	.	5.87	4.11	0.48088	.	0.141472	0.64402	D	0.000005	T	0.68559	0.3014	M	0.84683	2.71	0.58432	D	0.999997	B	0.14438	0.01	B	0.11329	0.006	T	0.66139	-0.5998	9	0.52906	T	0.07	-1.9179	10.9028	0.47062	0.0671:0.0:0.802:0.1309	.	149	O00422	SAP18_HUMAN	H	168	.	ENSP00000371973:R168H	R	+	2	0	SAP18	20619465	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	9.718000	0.98758	0.790000	0.33803	0.655000	0.94253	CGC		0.403	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1	NM_005870		4	143	0	0	0	1	0	4	143					A	21721465	G	A	21721465	3	1	445	1	0	0	0	0	1	0	0	0	13832	1087	38	1	517	1	SAP18	13	21721465	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08		21721465	93448413	22	30639											
ALG5	29880	broad.mit.edu	37	chr13	37567800	37567800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacttcataagtgaacgcagGatctcgtttctgcaagaaac	13	10	8	10	2	3	2	1	1	2	1	4	3	3	3	0	1	3	3	0	1	4	3			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr13:37567800G>A	ENST00000239891.3	-	4	361	c.295C>T	c.(295-297)Cct>Tct	p.P99S	ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000443765.1_Intron|ALG5_ENST00000413537.2_Missense_Mutation_p.P99S	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	99					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		GTGAACGCAGGATCTCGTTTC	0.313																																						ENST00000239891.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(295-297)Cct>Tct		ALG5, dolichyl-phosphate beta-glucosyltransferase							110	105	107					13																	37567800		2203	4300	6503	SO:0001583	missense	29880				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	g.chr13:37567800G>A	AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"Glycosyltransferase family 2 domain containing"	20266	protein-coding gene	gene with protein product		604565	"asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)", "asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.295C>T	13.37:g.37567800G>A	ENSP00000239891:p.Pro99Ser					ALG5_ENST00000443765.1_Intron|ALG5_ENST00000413537.2_Missense_Mutation_p.P99S|ALG5_ENST00000496689.1_5'UTR	p.P99S	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN		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)	4	361	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	99					B4DR37|Q5TBA6	Missense_Mutation	SNP	ENST00000239891.3	37	c.295C>T	CCDS9361.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911415	0.33721	.	.	ENSG00000120697	ENST00000239891;ENST00000413537	T;T	0.61510	0.1;0.1	5.66	4.81	0.61882	Glycosyl transferase, family 2 (1);	0.148484	0.64402	D	0.000007	T	0.41858	0.1177	L	0.31420	0.93	0.58432	D	0.999998	B	0.12013	0.005	B	0.14023	0.01	T	0.33033	-0.9884	10	0.02654	T	1	-18.9438	14.7018	0.69162	0.0712:0.0:0.9288:0.0	.	99	Q9Y673	ALG5_HUMAN	S	99	ENSP00000239891:P99S;ENSP00000389647:P99S	ENSP00000239891:P99S	P	-	1	0	ALG5	36465800	1.000000	0.71417	0.911000	0.35937	0.747000	0.42532	3.154000	0.50693	1.365000	0.46057	0.563000	0.77884	CCT		0.313	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	NM_013338		7	117	0	0	0	1	0	7	117					A	37567800	G	A	37567800	3	1	445	1	0	0	0	0	1	0	0	0	521	1174	41	3	707	3	ALG5	13	37567800	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08	15846335	37567800	77602078	23	30640											
TOX4	9878	broad.mit.edu	37	chr14	21955847	21955847	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctgagtgggggcttgAccatggtaaggggcaagaca	9	7	17	8	0	0	3	0	2	0	1	1	3	1	3	2	6	0	4	2	6	2	2			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr14:21955847A>G	ENST00000405508.1	+	4	589	c.313A>G	c.(313-315)Acc>Gcc	p.T105A	TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000262709.3_Missense_Mutation_p.T105A|TOX4_ENST00000448790.2_Missense_Mutation_p.T82A			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	105						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TGGGGGCTTGACCATGGTAAG	0.547																																						ENST00000405508.1																			0				large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(313-315)Acc>Gcc		TOX high mobility group box family member 4							44	46	45					14																	21955847		2203	4299	6502	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21955847A>G	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.313A>G	14.37:g.21955847A>G	ENSP00000385102:p.Thr105Ala					TOX4_ENST00000448790.2_Missense_Mutation_p.T82A|TOX4_ENST00000262709.3_Missense_Mutation_p.T105A|TOX4_ENST00000494242.1_3'UTR	p.T105A			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	4	589	+	all_cancers(95;0.000465)		105					B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.313A>G	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	A	8.803	0.933473	0.18206	.	.	ENSG00000092203	ENST00000416256;ENST00000405508;ENST00000262709;ENST00000457430;ENST00000448790	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.3	2.67	0.31697	.	0.234408	0.42964	D	0.000630	T	0.11750	0.0286	N	0.01352	-0.895	0.22401	N	0.999135	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.16897	-1.0387	10	0.16420	T	0.52	.	2.5588	0.04766	0.4846:0.0:0.3147:0.2007	.	82;105	B4DPY8;O94842	.;TOX4_HUMAN	A	134;105;105;82;82	ENSP00000402195:T134A;ENSP00000385102:T105A;ENSP00000262709:T105A;ENSP00000406196:T82A;ENSP00000393080:T82A	ENSP00000262709:T105A	T	+	1	0	TOX4	21025687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.561000	0.36342	0.960000	0.38005	0.459000	0.35465	ACC		0.547	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		21	56	0	0	0	1	0	21	56					G	21955847	A	G	21955847	3	3	445	1	0	0	0	0	1	0	0	0	16377	275	10	4	323	4	TOX4	14	21955847	Missense_Mutation	SNP	A	TCGA-Y6-A8TL-01A-21D-A377-08		21955847	85393693	24	30641											
CASC4	113201	broad.mit.edu	37	chr15	44630467	44630467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggtggtgatgcagggatgCctggaatagaagagaatgac	13	7	17	4	0	0	4	0	2	0	2	0	8	0	6	1	4	2	1	1	4	4	1			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr15:44630467C>T	ENST00000345795.2	+	6	1024	c.754C>T	c.(754-756)Cct>Tct	p.P252S	CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000299957.6_Missense_Mutation_p.P252S	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	252						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TGCAGGGATGCCTGGAATAGA	0.338																																						ENST00000299957.6																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17						c.(754-756)Cct>Tct		cancer susceptibility candidate 4							103	101	101					15																	44630467		2198	4298	6496	SO:0001583	missense	113201					integral to membrane		g.chr15:44630467C>T	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.754C>T	15.37:g.44630467C>T	ENSP00000335063:p.Pro252Ser					CASC4_ENST00000345795.2_Missense_Mutation_p.P252S|CASC4_ENST00000360824.3_3'UTR	p.P252S	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	6	1053	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	252					B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000345795.2	37	c.754C>T	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291158	0.80914	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	D;D	0.84442	-1.85;-1.85	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.90967	0.7160	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.994;0.999	D	0.89173	0.3538	10	0.30078	T	0.28	.	17.0189	0.86428	0.0:1.0:0.0:0.0	.	252;252;252	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	S	252;252;231	ENSP00000299957:P252S;ENSP00000335063:P252S	ENSP00000299957:P252S	P	+	1	0	CASC4	42417759	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.577000	0.60922	2.527000	0.85204	0.563000	0.77884	CCT		0.338	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		3	34	0	0	0	1	0	3	34					T	44630467	C	T	44630467	3	4	445	1	0	0	0	0	1	0	0	0	2662	739	26	3	776	3	CASC4	15	44630467	Missense_Mutation	SNP	C	TCGA-Y6-A8TL-01A-21D-A377-08		44630467	57900925	25	30642											
CORO2B	10391	broad.mit.edu	37	chr15	69011503	69011503	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagattcctaccaggaagaCatttacccaatgacaccagg	14	8	7	12	0	1	3	1	1	0	2	2	4	2	4	4	2	2	0	4	2	4	4			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr15:69011503C>G	ENST00000566799.1	+	10	1130	c.1101C>G	c.(1099-1101)gaC>gaG	p.D367E	CORO2B_ENST00000261861.5_Missense_Mutation_p.D362E|CORO2B_ENST00000543950.1_Missense_Mutation_p.D362E|CORO2B_ENST00000540068.1_Missense_Mutation_p.D362E			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	367					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ACCAGGAAGACATTTACCCAA	0.572																																						ENST00000543950.1																			0				kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(1084-1086)gaC>gaG		coronin, actin binding protein, 2B							109	105	106					15																	69011503		2200	4298	6498	SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:69011503C>G	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"Coronins", "WD repeat domain containing"	2256	protein-coding gene	gene with protein product	"clipin C", "coronin, actin-binding, 2B"	605002	"coronin, actin-binding protein, 2B"			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.1101C>G	15.37:g.69011503C>G	ENSP00000454783:p.Asp367Glu					CORO2B_ENST00000540068.1_Missense_Mutation_p.D362E|CORO2B_ENST00000261861.5_Missense_Mutation_p.D362E|CORO2B_ENST00000566799.1_Missense_Mutation_p.D367E	p.D362E	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN			10	1440	+			367					A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	c.1086C>G	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475245	0.84640	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.58358	0.34;0.34	5.46	4.54	0.55810	Domain of unknown function DUF1900 (1);	0.000000	0.85682	D	0.000000	T	0.76884	0.4050	M	0.91510	3.215	0.58432	D	0.999994	D	0.89917	1.0	D	0.79108	0.992	T	0.82250	-0.0550	10	0.87932	D	0	-49.7897	13.0557	0.58980	0.0:0.9214:0.0:0.0786	.	367	Q9UQ03	COR2B_HUMAN	E	367;362;362	ENSP00000446250:D362E;ENSP00000443819:D362E	ENSP00000261861:D367E	D	+	3	2	CORO2B	66798557	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	0.827000	0.27421	1.304000	0.44892	0.313000	0.20887	GAC		0.572	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		8	90	0	0	0	1	0	8	90					G	69011503	C	G	69011503	3	3	445	1	0	0	0	0	1	0	0	0	3757	477	17	5	1139	5	CORO2B	15	69011503	Missense_Mutation	SNP	C	TCGA-Y6-A8TL-01A-21D-A377-08	24381036	69011503	33519889	26	30643											
PRRT2	112476	broad.mit.edu	37	chr16	29825109	29825109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgaggtagcctgagccGccaccccagctcccagttgg	6	6	11	18	2	0	1	0	1	0	0	2	2	2	1	8	2	3	3	8	2	1	2			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr16:29825109G>A	ENST00000358758.7	+	2	1017	c.734G>A	c.(733-735)cGc>cAc	p.R245H	PRRT2_ENST00000300797.6_Missense_Mutation_p.R245H|PRRT2_ENST00000567551.1_3'UTR|AC009133.20_ENST00000569039.1_RNA|AC009133.14_ENST00000569981.1_RNA|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567659.1_Missense_Mutation_p.R245H|PAGR1_ENST00000320330.6_5'Flank	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	245			R -> H. {ECO:0000269|PubMed:22101681}.		neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						AGCCTGAGCCGCCACCCCAGC	0.637																																						ENST00000300797.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(733-735)cGc>cAc		proline-rich transmembrane protein 2							31	33	33					16																	29825109		2197	4300	6497	SO:0001583	missense	112476				response to biotic stimulus	integral to membrane		g.chr16:29825109G>A	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"Proline-rich transmembrane proteins"	30500	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 1"	614386	"infantile convulsions and paroxysmal choreoathetosis"	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.734G>A	16.37:g.29825109G>A	ENSP00000351608:p.Arg245His					PRRT2_ENST00000567659.1_Missense_Mutation_p.R245H|PRRT2_ENST00000567551.1_3'UTR|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000358758.7_Missense_Mutation_p.R245H	p.R245H			Q7Z6L0	PRRT2_HUMAN			2	908	+			245					A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	ENST00000358758.7	37	c.734G>A	CCDS10654.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025854	0.75390	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.78816	-0.75;-1.21	3.69	3.69	0.42338	.	0.251217	0.39687	N	0.001281	T	0.79569	0.4468	N	0.24115	0.695	0.50813	D	0.999899	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.81705	-0.0811	10	0.59425	D	0.04	-7.4395	13.3373	0.60524	0.0:0.0:1.0:0.0	.	245;245;245	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	H	245	ENSP00000351608:R245H;ENSP00000300797:R245H	ENSP00000300797:R245H	R	+	2	0	PRRT2	29732610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.762000	0.62250	2.077000	0.62373	0.563000	0.77884	CGC		0.637	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	NM_145239		7	30	0	0	0	1	0	7	30					A	29825109	G	A	29825109	3	1	445	1	0	0	0	0	1	0	0	0	12610	1087	38	1	736	1	PRRT2	16	29825109	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08		29825109	60529644	27	30644											
CHD3	1107	broad.mit.edu	37	chr17	7804250	7804250	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaccaggtgtcgctgcttaAtatcatgatggatcttaaga	12	12	10	7	1	2	2	1	1	1	1	3	4	2	3	1	2	2	2	1	2	4	3			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr17:7804250A>G	ENST00000330494.7	+	19	3209	c.3059A>G	c.(3058-3060)aAt>aGt	p.N1020S	CHD3_ENST00000380358.4_Missense_Mutation_p.N1079S|CHD3_ENST00000358181.4_Missense_Mutation_p.N1020S	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1020					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			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)				TCGCTGCTTAATATCATGATG	0.473																																						ENST00000380358.4																			0				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						c.(3235-3237)aAt>aGt		chromodomain helicase DNA binding protein 3							121	110	113					17																	7804250		2203	4300	6503	SO:0001583	missense	1107				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	g.chr17:7804250A>G	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3059A>G	17.37:g.7804250A>G	ENSP00000332628:p.Asn1020Ser					CHD3_ENST00000358181.4_Missense_Mutation_p.N1020S|CHD3_ENST00000330494.7_Missense_Mutation_p.N1020S	p.N1079S	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			19	3237	+		Prostate(122;0.202)	1020			Helicase C-terminal.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.3236A>G	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.902245	0.52227	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;T;T	0.75589	-0.95;-0.95;-0.95	4.95	4.95	0.65309	SNF2-related (1);	0.000000	0.50627	D	0.000112	D	0.82953	0.5149	L	0.53249	1.67	0.80722	D	1	D;D;D	0.76494	0.996;0.997;0.999	D;D;D	0.79108	0.98;0.989;0.992	D	0.84937	0.0863	10	0.87932	D	0	-30.6814	15.0655	0.71992	1.0:0.0:0.0:0.0	.	1020;1020;1079	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	S	1079;1020;1020	ENSP00000369716:N1079S;ENSP00000350907:N1020S;ENSP00000332628:N1020S	ENSP00000332628:N1020S	N	+	2	0	CHD3	7744975	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.087000	0.94110	2.215000	0.71742	0.459000	0.35465	AAT		0.473	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		41	79	0	0	0	1	0	41	79					G	7804250	A	G	7804250	3	3	445	1	0	0	0	0	1	0	0	0	3326	101	4	4	3414	4	CHD3	17	7804250	Missense_Mutation	SNP	A	TCGA-Y6-A8TL-01A-21D-A377-08		7804250	73390960	28	30645											
MAP2K4	6416	broad.mit.edu	37	chr17	11958264	11958264	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctttcaaatctacagcaagGtttactctgaatcccaatcc	12	12	4	13	0	3	1	1	1	2	0	5	1	5	1	3	1	3	2	3	1	6	4			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr17:11958264G>C	ENST00000353533.5	+	2	237	c.174G>C	c.(172-174)agG>agC	p.R58S	MAP2K4_ENST00000415385.3_Missense_Mutation_p.R69S	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	58		Cleavage; by anthrax lethal factor.			apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CTACAGCAAGGTTTACTCTGA	0.348			"D, Mis, N"		"pancreatic, breast, colorectal"																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"D, Mis, N"	mitogen-activated protein kinase kinase 4			E			"pancreatic, breast, colorectal"		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|endometrium(1)|pancreas(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						c.(205-207)agG>agC		mitogen-activated protein kinase kinase 4							79	75	76					17																	11958264		2202	4298	6500	SO:0001583	missense	6416				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	g.chr17:11958264G>C	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.174G>C	17.37:g.11958264G>C	ENSP00000262445:p.Arg58Ser					MAP2K4_ENST00000353533.5_Missense_Mutation_p.R58S	p.R69S			P45985	MP2K4_HUMAN		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)	3	260	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	58					B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.207G>C	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273903	0.40194	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465	T;T	0.72051	-0.55;-0.62	5.57	4.54	0.55810	.	0.043334	0.85682	D	0.000000	T	0.59582	0.2204	L	0.56769	1.78	0.49389	D	0.999786	B;B	0.11235	0.004;0.001	B;B	0.10450	0.005;0.001	T	0.52200	-0.8607	10	0.15499	T	0.54	.	5.5635	0.17157	0.1581:0.1746:0.6673:0.0	.	69;58	P45985-2;P45985	.;MP2K4_HUMAN	S	58;69;35	ENSP00000262445:R58S;ENSP00000410402:R69S	ENSP00000262445:R58S	R	+	3	2	MAP2K4	11898989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.938000	0.40203	2.785000	0.95823	0.655000	0.94253	AGG		0.348	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			5	51	0	0	0	1	0	5	51					C	11958264	G	C	11958264	3	2	445	1	0	0	0	0	1	0	0	0	9239	1252	44	5	180	5	MAP2K4	17	11958264	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08	4154014	11958264	69236946	29	30646											
NCOR1	9611	broad.mit.edu	37	chr17	15964819	15964819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaagttagctgcagtaatgGtagtcttccctctggtcctt	7	15	10	9	0	2	1	0	1	2	0	4	1	4	1	2	2	2	5	2	2	4	5			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr17:15964819G>A	ENST00000268712.3	-	37	6034	c.5777C>T	c.(5776-5778)aCc>aTc	p.T1926I	NCOR1_ENST00000395857.3_Missense_Mutation_p.T510I|NCOR1_ENST00000395851.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1926	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			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)		TGCAGTAATGGTAGTCTTCCC	0.478																																						ENST00000268712.3																			0				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						c.(5776-5778)aCc>aTc		nuclear receptor corepressor 1							300	278	285					17																	15964819		2203	4300	6503	SO:0001583	missense	9611				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	g.chr17:15964819G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5777C>T	17.37:g.15964819G>A	ENSP00000268712:p.Thr1926Ile					NCOR1_ENST00000395857.3_Missense_Mutation_p.T510I|NCOR1_ENST00000395851.1_Intron	p.T1926I	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	37	6034	-			1926			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.5777C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686884	0.88639	.	.	ENSG00000141027	ENST00000268712;ENST00000395849;ENST00000395857	T;T	0.53423	0.62;0.62	5.87	5.87	0.94306	.	0.043420	0.85682	D	0.000000	T	0.70928	0.3280	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.91635	0.997;0.994;0.996;0.999	T	0.72487	-0.4278	10	0.87932	D	0	-10.1654	19.1914	0.93667	0.0:0.0:1.0:0.0	.	736;1830;1926;446	B4DZ48;E7EVK1;O75376;Q86YY1	.;.;NCOR1_HUMAN;.	I	1926;1830;510	ENSP00000268712:T1926I;ENSP00000379198:T510I	ENSP00000268712:T1926I	T	-	2	0	NCOR1	15905544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.411000	0.97342	2.785000	0.95823	0.650000	0.86243	ACC		0.478	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		5	275	0	0	0	1	0	5	275					A	15964819	G	A	15964819	3	1	445	1	0	0	0	0	1	0	0	0	10235	1261	44	3	1585	3	NCOR1	17	15964819	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08	4006555	15964819	65230391	30	30647											
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	10	13	6	12	0	2	2	0	2	2	0	3	3	3	2	4	0	3	1	4	0	3	4			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr17:47696432A>C	ENST00000393328.2	-	6	756	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393331.3_Missense_Mutation_p.W131G	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Ggg		speckle-type POZ protein							121	124	123					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>G	17.37:g.47696432A>C	ENSP00000377001:p.Trp131Gly	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G	p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058244	0.76074	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	H	0.95402	3.665	0.80722	D	1	P	0.43024	0.798	P	0.47786	0.557	D	0.87031	0.2135	10	0.72032	D	0.01	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	G	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131G;ENSP00000377004:W131G;ENSP00000240327:W131G;ENSP00000425905:W131G;ENSP00000420908:W131G;ENSP00000426986:W131G;ENSP00000420960:W131G;ENSP00000426262:W131G;ENSP00000424119:W131G	ENSP00000240327:W131G	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		45	98	0	0	0	1	0	45	98					C	47696432	A	C	47696432	3	2	445	1	0	0	0	0	1	0	0	0	15083	188	7	5	757	5	SPOP	17	47696432	Missense_Mutation	SNP	A	TCGA-Y6-A8TL-01A-21D-A377-08	31731613	47696432	33498778	31	30648											
MAN2B1	4125	broad.mit.edu	37	chr19	12760801	12760801	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccagcggtgtgtcaaaacgGctgatgacctccttccccca	8	9	9	15	2	1	2	1	2	0	0	4	2	4	2	5	2	2	1	5	2	2	1			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr19:12760801G>C	ENST00000456935.2	-	18	2233	c.2193C>G	c.(2191-2193)agC>agG	p.S731R	MAN2B1_ENST00000221363.4_Missense_Mutation_p.S730R|CTD-2192J16.22_ENST00000597692.1_5'Flank	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	731					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			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						TGTCAAAACGGCTGATGACCT	0.592																																						ENST00000456935.2																			0				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						c.(2191-2193)agC>agG		mannosidase, alpha, class 2B, member 1							218	195	203					19																	12760801		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12760801G>C		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2193C>G	19.37:g.12760801G>C	ENSP00000395473:p.Ser731Arg					MAN2B1_ENST00000221363.4_Missense_Mutation_p.S730R	p.S731R	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			18	2233	-			731					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.2193C>G	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885366	0.51908	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.78816	-1.21;-1.21	5.13	-4.26	0.03755	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.56097	D	0.000034	D	0.86201	0.5876	M	0.87682	2.9	0.36238	D	0.853109	D;D	0.89917	1.0;1.0	D;D	0.73708	0.978;0.981	D	0.87677	0.2545	10	0.87932	D	0	-30.1702	13.2578	0.60089	0.3401:0.0:0.6599:0.0	.	730;731	G5E928;O00754	.;MA2B1_HUMAN	R	731;670;730	ENSP00000395473:S731R;ENSP00000221363:S730R	ENSP00000221363:S730R	S	-	3	2	MAN2B1	12621801	0.716000	0.27956	0.976000	0.42696	0.492000	0.33523	-0.138000	0.10374	-0.627000	0.05589	0.555000	0.69702	AGC		0.592	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			6	183	0	0	0	1	0	6	183					C	12760801	G	C	12760801	3	2	445	1	0	0	0	0	1	0	0	0	9216	1194	42	5	870	5	MAN2B1	19	12760801	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08		12760801	46368182	32	30649											
ZNF507	22847	broad.mit.edu	37	chr19	32844700	32844700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatccacaatgggccatcaGtgcaagtgcagatttgcagc	11	9	11	10	0	1	1	1	0	0	1	2	1	2	1	2	1	4	4	2	1	3	2			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr19:32844700G>A	ENST00000311921.4	+	2	1156	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	ZNF507_ENST00000355898.5_Missense_Mutation_p.V322M|ZNF507_ENST00000544431.1_Missense_Mutation_p.V322M	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)					TGGGCCATCAGTGCAAGTGCA	0.498																																						ENST00000311921.3																			0				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						c.(964-966)Gtg>Atg		zinc finger protein 507							189	175	180					19																	32844700		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844700G>A	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.964G>A	19.37:g.32844700G>A	ENSP00000312277:p.Val322Met					ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000544431.1_Missense_Mutation_p.V322M|ZNF507_ENST00000355898.5_Missense_Mutation_p.V322M	p.V322M	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			2	1156	+	Esophageal squamous(110;0.162)		322					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.964G>A	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	G	9.615	1.132246	0.21041	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.07216	3.53;3.53;3.21	5.91	5.91	0.95273	.	0.307839	0.34133	N	0.004225	T	0.12860	0.0312	L	0.57536	1.79	0.26307	N	0.977884	P;P	0.42203	0.468;0.773	B;B	0.40444	0.115;0.329	T	0.09122	-1.0689	10	0.54805	T	0.06	.	15.6025	0.76636	0.0:0.2403:0.7597:0.0	.	322;322	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	M	322	ENSP00000348162:V322M;ENSP00000312277:V322M;ENSP00000441549:V322M	ENSP00000312277:V322M	V	+	1	0	ZNF507	37536540	0.878000	0.30173	0.221000	0.23827	0.822000	0.46500	1.525000	0.35953	2.791000	0.96007	0.655000	0.94253	GTG		0.498	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		36	189	0	0	0	1	0	36	189					A	32844700	G	A	32844700	3	1	445	1	0	0	0	0	1	0	0	0	17950	1029	36	3	966	3	ZNF507	19	32844700	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08	20083899	32844700	26284283	33	30650											
ZMYM4	9202	broad.mit.edu	37	chr1	35824942	35824942	+	Frame_Shift_Del	DEL	G	G	-																															acagcaaagagacattttctGgaaaggagaaaaatagagac																										TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:35824942delG	ENST00000314607.6	+	3	582	c.502delG	c.(502-504)ggafs	p.G168fs	ZMYM4_ENST00000373297.2_Frame_Shift_Del_p.G168fs|ZMYM4-AS1_ENST00000432683.1_RNA	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	168					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)				GACATTTTCTGGAAAGGAGAA	0.313																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(502-504)gafs		zinc finger, MYM-type 4							36	37	37					1																	35824942		2198	4291	6489	SO:0001589	frameshift_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35824942delG	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.502delG	1.37:g.35824942delG	ENSP00000322915:p.Gly168fs					ZMYM4-AS1_ENST00000432683.1_RNA|ZMYM4_ENST00000373297.2_Frame_Shift_Del_p.G168fs	p.G168fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			3	582	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	168					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Frame_Shift_Del	DEL	ENST00000314607.6	37	c.502delG	CCDS389.1																																																																																				0.313	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		14	34						14	34	---	---	---	---	-	35824942	G	-	35824942	7	5	446	1	0	1	0	1	0	0	0	0	17699	1349	47	0	512	0	ZMYM4	1	35824942	Frame_Shift_Del	DEL	G	TCGA-Y6-A9XI-01A-11D-A41K-08		35824942	213425679	1	30651											
HRNR	388697	broad.mit.edu	37	chr1	152192359	152192359	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcttggtgacctaagccAgaagagtgaccggagccaga	12	6	13	10	1	1	5	0	2	1	3	1	7	1	6	4	2	2	0	4	2	2	2			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:152192359A>T	ENST00000368801.2	-	3	1821	c.1746T>A	c.(1744-1746)tcT>tcA	p.S582S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	582					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTAAGCCAGAAGAGTGAC	0.562																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1744-1746)tcT>tcA		hornerin							231	229	230					1																	152192359		2203	4298	6501	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192359A>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1746T>A	1.37:g.152192359A>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S582S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1821	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		582					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.1746T>A	CCDS30859.1																																																																																				0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		24	194	0	0	0	1	0	24	194					T	152192359	A	T	152192359	2	4	446	1	0	0	0	0	0	0	0	1	7359	175	7	5		5	HRNR	1	152192359	Silent	SNP	A	TCGA-Y6-A9XI-01A-11D-A41K-08	116367417	152192359	97058262	2	30652											
LCE1C	353133	broad.mit.edu	37	chr1	152777704	152777704	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtctgtggcagtgggacCtacggcgcctgtggtggctc	3	9	19	10	2	1	0	0	0	1	0	2	1	1	1	2	7	1	2	2	7	1	1			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:152777704C>G	ENST00000607093.1	-	1	250	c.251G>C	c.(250-252)aGg>aCg	p.R84T	LCE1C_ENST00000368768.1_Missense_Mutation_p.R84T			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	84	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	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)			GCAGTGGGACCTACGGCGCCT	0.701																																						ENST00000368768.1																			0				NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(250-252)aGg>aCg		late cornified envelope 1C							29	36	33					1																	152777704		2201	4286	6487	SO:0001583	missense	353133				keratinization			g.chr1:152777704C>G		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"Late cornified envelopes"	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.251G>C	1.37:g.152777704C>G	ENSP00000475270:p.Arg84Thr					LCE1C_ENST00000607093.1_Missense_Mutation_p.R84T	p.R84T	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	301	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		84			Gly-rich.			Missense_Mutation	SNP	ENST00000607093.1	37	c.251G>C	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	C	2.582	-0.297187	0.05532	.	.	ENSG00000197084	ENST00000368768	T	0.05139	3.49	3.16	3.16	0.36331	.	.	.	.	.	T	0.12561	0.0305	M	0.74647	2.275	0.09310	N	0.999992	D	0.54772	0.968	D	0.72625	0.978	T	0.02766	-1.1113	9	0.87932	D	0	.	9.9325	0.41530	0.0:1.0:0.0:0.0	.	84	Q5T751	LCE1C_HUMAN	T	84	ENSP00000357757:R84T	ENSP00000357757:R84T	R	-	2	0	LCE1C	151044328	0.563000	0.26594	0.420000	0.26596	0.130000	0.20726	1.946000	0.40283	1.764000	0.52075	0.655000	0.94253	AGG		0.701	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		10	55	0	0	0	1	0	10	55					G	152777704	C	G	152777704	3	3	446	1	0	0	0	0	1	0	0	0	8661	681	24	5	109	5	LCE1C	1	152777704	Missense_Mutation	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08	585345	152777704	96472917	3	30653											
ETV3	2117	broad.mit.edu	37	chr1	157105362	157105362	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatccttgatgacaaattccCcgtactctccctgctgccag	8	11	7	15	1	1	2	0	2	1	0	4	3	3	2	5	0	3	2	5	0	2	3			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:157105362C>G	ENST00000368192.4	-	3	249	c.185G>C	c.(184-186)gGg>gCg	p.G62A	ETV3_ENST00000326786.4_Missense_Mutation_p.G62A|ETV3_ENST00000460850.1_5'UTR	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	62					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				GACAAATTCCCCGTACTCTCC	0.592																																						ENST00000368192.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9						c.(184-186)gGg>gCg		ets variant 3							57	59	58					1																	157105362		2202	4279	6481	SO:0001583	missense	2117						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157105362C>G	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"ets variant gene 3, ETS family transcriptional repressor", "ets variant gene 3"			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.185G>C	1.37:g.157105362C>G	ENSP00000357175:p.Gly62Ala					ETV3_ENST00000326786.4_Missense_Mutation_p.G62A|ETV3_ENST00000460850.1_5'UTR	p.G62A	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN			3	249	-	Hepatocellular(266;0.158)	Prostate(1639;0.174)	62					B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	ENST00000368192.4	37	c.185G>C	CCDS44250.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158247	0.78114	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	T;T	0.58358	0.34;0.34	5.32	5.32	0.75619	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.64402	D	0.000001	T	0.70701	0.3254	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.983;0.998	T	0.73920	-0.3830	10	0.66056	D	0.02	.	18.1187	0.89564	0.0:1.0:0.0:0.0	.	62;62	P41162-2;P41162	.;ETV3_HUMAN	A	62	ENSP00000357175:G62A;ENSP00000327316:G62A	ENSP00000327316:G62A	G	-	2	0	ETV3	155371986	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	7.726000	0.84824	2.647000	0.89833	0.655000	0.94253	GGG		0.592	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240		15	38	0	0	0	1	0	15	38					G	157105362	C	G	157105362	3	3	446	1	0	0	0	0	1	0	0	0	5279	623	22	5	1397	5	ETV3	1	157105362	Missense_Mutation	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08	4327658	157105362	92145259	4	30654											
SPTA1	6708	broad.mit.edu	37	chr1	158608031	158608031	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attcaggtccttgagtgcatCctagaaagtctcgggatact	10	12	10	9	1	2	2	1	1	1	1	5	3	4	3	2	2	2	1	2	2	3	4			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:158608031C>A	ENST00000368147.4	-	36	5161	c.4981G>T	c.(4981-4983)Gat>Tat	p.D1661Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1661					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			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)					TTGAGTGCATCCTAGAAAGTC	0.433																																						ENST00000368148.3																			0				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						c.e36-1		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							62	58	60					1																	158608031		1881	4112	5993	SO:0001630	splice_region_variant	6708				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	g.chr1:158608031C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4981-1G>T	1.37:g.158608031C>A						SPTA1_ENST00000368147.3_Splice_Site_p.D1661_splice	p.D1661_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			36	5161	-	all_hematologic(112;0.0378)		1661					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37	c.4980_splice	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091337	0.76756	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.37058	1.22;1.22	5.24	4.33	0.51752	.	0.000000	0.33309	N	0.005053	T	0.53077	0.1774	M	0.85630	2.765	0.58432	D	0.999998	D	0.69078	0.997	D	0.71414	0.973	T	0.63256	-0.6678	10	0.87932	D	0	.	12.5398	0.56163	0.0:0.9192:0.0:0.0808	.	1661	P02549	SPTA1_HUMAN	Y	1661	ENSP00000357130:D1661Y;ENSP00000357129:D1661Y	ENSP00000357129:D1661Y	D	-	1	0	SPTA1	156874655	1.000000	0.71417	0.981000	0.43875	0.982000	0.71751	5.451000	0.66632	1.445000	0.47624	0.591000	0.81541	GAT		0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Missense_Mutation	6	27	1	0	0.00198382	1	0.00204886	6	27					A	158608031	C	A	158608031	5	1	446	1	0	0	0	0	0	0	1	0	15115	869	30	5	2346	5	SPTA1	1	158608031	Splice_Site	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08	1502669	158608031	90642590	5	30655											
SPTA1	6708	broad.mit.edu	37	chr1	158632713	158632713	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaaatatgcagccaggTctgtaaggatatccacctga	13	10	8	10	0	2	1	1	1	1	0	3	2	3	2	3	2	2	2	3	2	5	4			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:158632713T>C	ENST00000368147.4	-	17	2423	c.2243A>G	c.(2242-2244)gAc>gGc	p.D748G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	748					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			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)					TGCAGCCAGGTCTGTAAGGAT	0.423																																						ENST00000368148.3																			0				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						c.(2242-2244)gAc>gGc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							74	71	72					1																	158632713		1870	4094	5964	SO:0001583	missense	6708				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	g.chr1:158632713T>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2243A>G	1.37:g.158632713T>C	ENSP00000357129:p.Asp748Gly					SPTA1_ENST00000368147.3_Missense_Mutation_p.D748G	p.D748G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			17	2423	-	all_hematologic(112;0.0378)		748					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2243A>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	6.319	0.427023	0.11987	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52526	0.66;0.66	4.41	3.25	0.37280	.	0.240796	0.21428	N	0.074720	T	0.18593	0.0446	L	0.49640	1.575	0.25872	N	0.983694	B	0.19706	0.038	B	0.28305	0.088	T	0.21245	-1.0251	10	0.24483	T	0.36	.	5.0188	0.14350	0.1848:0.0:0.1923:0.6229	.	748	P02549	SPTA1_HUMAN	G	748	ENSP00000357130:D748G;ENSP00000357129:D748G	ENSP00000357129:D748G	D	-	2	0	SPTA1	156899337	1.000000	0.71417	0.005000	0.12908	0.012000	0.07955	4.657000	0.61490	0.700000	0.31782	0.533000	0.62120	GAC		0.423	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		19	39	0	0	0	1	0	19	39					C	158632713	T	C	158632713	3	2	446	1	0	0	0	0	1	0	0	0	15115	1667	58	4	5160	4	SPTA1	1	158632713	Missense_Mutation	SNP	T	TCGA-Y6-A9XI-01A-11D-A41K-08	24682	158632713	90617908	6	30656											
OR6K2	81448	broad.mit.edu	37	chr1	158669493	158669493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatcttacttgaggtccctGgtcttacggaaaaaaatatc	13	13	7	8	1	2	1	0	1	2	0	4	2	3	2	1	3	2	0	1	3	7	5			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:158669493G>A	ENST00000359610.2	-	1	993	c.950C>T	c.(949-951)cCa>cTa	p.P317L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGAGGTCCCTGGTCTTACGGA	0.373																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(949-951)cCa>cTa		olfactory receptor, family 6, subfamily K, member 2							71	69	70					1																	158669493		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669493G>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.950C>T	1.37:g.158669493G>A	ENSP00000352626:p.Pro317Leu						p.P317L	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	993	-	all_hematologic(112;0.0378)		317					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.950C>T	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	8.906	0.957635	0.18507	.	.	ENSG00000196171	ENST00000359610	T	0.00966	5.49	4.39	0.176	0.15049	.	.	.	.	.	T	0.00271	0.0008	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43212	-0.9405	9	0.72032	D	0.01	5.169	3.1322	0.06428	0.176:0.1527:0.5382:0.1331	.	317	Q8NGY2	OR6K2_HUMAN	L	317	ENSP00000352626:P317L	ENSP00000352626:P317L	P	-	2	0	OR6K2	156936117	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.096000	0.11059	-0.288000	0.09051	-1.367000	0.01198	CCA		0.373	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		16	32	0	0	0	1	0	16	32					A	158669493	G	A	158669493	3	1	446	1	0	0	0	0	1	0	0	0	11202	1348	47	3	28	3	OR6K2	1	158669493	Missense_Mutation	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08	36780	158669493	90581128	7	30657											
C1orf114	57821	broad.mit.edu	37	chr1	169391324	169391324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatcctcttcctcctcCaagtctttctggctttctag	4	17	4	16	0	5	0	1	0	4	0	10	0	10	0	5	1	0	1	5	1	2	4			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:169391324C>A	ENST00000367806.3	-	3	497	c.345G>T	c.(343-345)ttG>ttT	p.L115F	CCDC181_ENST00000367805.3_Missense_Mutation_p.L115F|CCDC181_ENST00000545005.1_Missense_Mutation_p.L115F|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	115						nucleus (GO:0005634)											CTTCCTCCTCCAAGTCTTTCT	0.388																																						ENST00000545005.1																			0											c.(343-345)ttG>ttT		coiled-coil domain containing 181							64	65	64					1																	169391324		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169391324C>A	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 114"	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.345G>T	1.37:g.169391324C>A	ENSP00000356780:p.Leu115Phe					CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.L115F|CCDC181_ENST00000367805.3_Missense_Mutation_p.L115F	p.L115F							4	852	-								O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.345G>T		.	.	.	.	.	.	.	.	.	.	C	12.00	1.805232	0.31961	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.26810	1.74;1.74;1.74;1.71	4.96	1.85	0.25348	.	0.414918	0.23821	N	0.044231	T	0.27900	0.0687	M	0.70595	2.14	0.37831	D	0.928734	D;D;D	0.63046	0.989;0.992;0.992	P;P;P	0.62298	0.858;0.9;0.9	T	0.09729	-1.0661	9	0.62326	D	0.03	-1.1501	7.2826	0.26320	0.2984:0.623:0.0:0.0787	.	115;115;115	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	F	115	ENSP00000356779:L115F;ENSP00000356780:L115F;ENSP00000442297:L115F;ENSP00000411000:L115F	ENSP00000356779:L115F	L	-	3	2	C1orf114	167657948	0.982000	0.34865	0.402000	0.26371	0.409000	0.31022	0.457000	0.21875	0.472000	0.27344	0.563000	0.77884	TTG		0.388	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		6	50	1	0	0.217242	1	0.217242	6	50					A	169391324	C	A	169391324	3	1	446	1	0	0	0	0	1	0	0	0	1987	593	21	5	1197	5	C1orf114	1	169391324	Missense_Mutation	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08	10721831	169391324	79859297	8	30658											
PTPRC	5788	broad.mit.edu	37	chr1	198725090	198725090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacctaccctgctcagaatgGacaagtaaagaaaaacaacc	18	5	6	12	0	1	2	1	0	0	2	1	3	1	3	3	1	4	2	3	1	8	2			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:198725090G>A	ENST00000367376.2	+	33	3866	c.3695G>A	c.(3694-3696)gGa>gAa	p.G1232E	PTPRC_ENST00000352140.3_Missense_Mutation_p.G1184E|PTPRC_ENST00000594404.1_Missense_Mutation_p.G1071E|PTPRC_ENST00000442510.2_Missense_Mutation_p.G1234E|PTPRC_ENST00000348564.6_Missense_Mutation_p.G1073E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1232					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCTCAGAATGGACAAGTAAAG	0.363																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(3694-3696)gGa>gAa		protein tyrosine phosphatase, receptor type, C							96	100	99					1																	198725090		2203	4300	6503	SO:0001583	missense	5788				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	g.chr1:198725090G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3695G>A	1.37:g.198725090G>A	ENSP00000356346:p.Gly1232Glu					PTPRC_ENST00000352140.3_Missense_Mutation_p.G1184E|PTPRC_ENST00000594404.1_Missense_Mutation_p.G1071E|PTPRC_ENST00000348564.6_Missense_Mutation_p.G1073E|PTPRC_ENST00000442510.2_Missense_Mutation_p.G1234E	p.G1232E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			33	3866	+			1232					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.3695G>A		.	.	.	.	.	.	.	.	.	.	G	26.1	4.707748	0.89018	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.03065	4.06	5.7	5.7	0.88788	.	0.000000	0.45606	D	0.000355	T	0.18882	0.0453	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.00024	-1.2327	10	0.87932	D	0	.	19.8349	0.96652	0.0:0.0:1.0:0.0	.	1073;1184;1232	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	E	1234;1184;1232;1071	ENSP00000193532:G1184E	ENSP00000306782:G1071E	G	+	2	0	PTPRC	196991713	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	8.670000	0.91168	2.691000	0.91804	0.557000	0.71058	GGA		0.363	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				24	44	0	0	0	1	0	24	44					A	198725090	G	A	198725090	3	1	446	1	0	0	0	0	1	0	0	0	12797	1174	41	3	3832	3	PTPRC	1	198725090	Missense_Mutation	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08	29333766	198725090	50525531	9	30659											
IARS2	55699	broad.mit.edu	37	chr1	220275731	220275731	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttatcgatcttacaaaccTgtgttttggtctccgtcatc	7	17	7	10	2	3	0	1	0	2	0	6	1	3	0	2	1	2	2	2	1	3	5			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:220275731T>A	ENST00000302637.5	+	5	830	c.726T>A	c.(724-726)ccT>ccA	p.P242P	IARS2_ENST00000366922.1_Silent_p.P170P	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	242					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CTTACAAACCTGTGTTTTGGT	0.308																																						ENST00000366922.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(508-510)ccT>ccA		isoleucyl-tRNA synthetase 2, mitochondrial	L-Isoleucine(DB00167)						114	112	113					1																	220275731		2203	4300	6503	SO:0001819	synonymous_variant	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220275731T>A	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.726T>A	1.37:g.220275731T>A						IARS2_ENST00000302637.5_Silent_p.P242P	p.P170P			Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	5	841	+			242					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	ENST00000302637.5	37	c.510T>A	CCDS1523.1																																																																																				0.308	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		3	45	0	0	0	1	0	3	45					A	220275731	T	A	220275731	2	1	446	1	0	0	0	0	0	0	0	1	7474	1567	55	5		5	IARS2	1	220275731	Silent	SNP	T	TCGA-Y6-A9XI-01A-11D-A41K-08	21550641	220275731	28974890	10	30660											
CHRM3	1131	broad.mit.edu	37	chr1	240070781	240070781	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaataacagtacaacctcGcctttgtttccaaacatcag	14	10	4	13	1	1	0	1	0	0	0	3	0	2	0	3	0	4	2	3	0	5	4			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr1:240070781G>A	ENST00000255380.4	+	5	809	c.30G>A	c.(28-30)tcG>tcA	p.S10S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	10					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			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)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTACAACCTCGCCTTTGTTTC	0.483																																						ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(28-30)tcG>tcA		cholinergic receptor, muscarinic 3	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)						75	69	71					1																	240070781		2203	4300	6503	SO:0001819	synonymous_variant	1131				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	g.chr1:240070781G>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.30G>A	1.37:g.240070781G>A							p.S10S	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	809	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	10					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.30G>A	CCDS1616.1																																																																																				0.483	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		4	59	0	0	0	1	0	4	59					A	240070781	G	A	240070781	2	1	446	1	0	0	0	0	0	0	0	1	3378	1074	38	1		1	CHRM3	1	240070781	Silent	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08	19795050	240070781	9179840	11	30661											
TPO	7173	broad.mit.edu	37	chr2	1488493	1488493	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaacgtgttctccacagcCgccttccgcttcggccatgc	5	10	8	18	4	1	0	0	0	1	0	5	0	3	0	6	1	3	2	6	1	1	3	rs202005839		TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr2:1488493C>T	ENST00000345913.4	+	9	1555	c.1464C>T	c.(1462-1464)gcC>gcT	p.A488A	TPO_ENST00000337415.3_Silent_p.A488A|TPO_ENST00000349624.3_Silent_p.A315A|TPO_ENST00000346956.3_Silent_p.A488A|TPO_ENST00000382201.3_Silent_p.A488A|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Silent_p.A315A|TPO_ENST00000329066.4_Silent_p.A488A	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	488					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TCTCCACAGCCGCCTTCCGCT	0.662													c|||	1	0.000199681	0	0	5008	,	,		12743	0.001		0	False		,,,				2504	0					ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1462-1464)gcC>gcT		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						68	63	65					2																	1488493		2203	4300	6503	SO:0001819	synonymous_variant	7173				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	g.chr2:1488493C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1464C>T	2.37:g.1488493C>T						TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Silent_p.A488A|TPO_ENST00000382198.1_Silent_p.A315A|TPO_ENST00000382201.3_Silent_p.A488A|TPO_ENST00000349624.3_Silent_p.A315A|TPO_ENST00000346956.3_Silent_p.A488A|TPO_ENST00000329066.4_Silent_p.A488A	p.A488A	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	9	1555	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	488					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.1464C>T	CCDS1643.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	10.45	1.353489	0.24512	.	.	ENSG00000115705	ENST00000446278	.	.	.	5.3	-6.03	0.02185	.	.	.	.	.	T	0.39410	0.1077	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42498	-0.9448	4	.	.	.	-27.8273	4.284	0.10846	0.1637:0.1009:0.0854:0.65	.	.	.	.	L	20	.	.	P	+	2	0	TPO	1467500	0.000000	0.05858	0.959000	0.39883	0.887000	0.51463	-3.358000	0.00499	-0.854000	0.04131	-0.261000	0.10672	CCG		0.662	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		13	33	0	0	0	1	0	13	33					T	1488493	C	T	1488493	2	4	446	1	0	0	0	0	0	0	0	1	16407	639	23	2		2	TPO	2	1488493	Silent	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08		1488493	241710880	12	30662											
EML4	27436	broad.mit.edu	37	chr2	42522547	42522547	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagccaaaatttgtgcaGtgtttagcattcttggggaa	13	12	11	5	0	1	0	0	0	1	0	1	2	1	1	1	2	3	3	1	2	6	5			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr2:42522547G>T	ENST00000318522.5	+	13	1642	c.1380G>T	c.(1378-1380)caG>caT	p.Q460H	EML4_ENST00000401738.3_Missense_Mutation_p.Q471H|EML4_ENST00000402711.2_Missense_Mutation_p.Q402H	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	460					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AATTTGTGCAGTGTTTAGCAT	0.358			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1378-1380)caG>caT		echinoderm microtubule associated protein like 4							128	133	131					2																	42522547		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42522547G>T	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1380G>T	2.37:g.42522547G>T	ENSP00000320663:p.Gln460His					EML4_ENST00000401738.3_Missense_Mutation_p.Q471H|EML4_ENST00000402711.2_Missense_Mutation_p.Q402H	p.Q460H	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			13	1642	+			460					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.1380G>T	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380381	0.61845	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.56941	0.43;0.43;0.43	5.72	3.92	0.45320	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	N	0.16368	0.405	0.80722	D	1	B;D;D	0.76494	0.074;0.997;0.999	B;D;D	0.85130	0.032;0.975;0.997	T	0.46331	-0.9199	10	0.23302	T	0.38	-9.2649	11.6803	0.51453	0.1982:0.0:0.8018:0.0	.	402;471;460	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	H	460;402;471	ENSP00000320663:Q460H;ENSP00000385059:Q402H;ENSP00000384939:Q471H	ENSP00000320663:Q460H	Q	+	3	2	EML4	42376051	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.957000	0.40392	0.884000	0.36064	0.655000	0.94253	CAG		0.358	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		8	50	1	0	0.0692343	1	0.070351	8	50					T	42522547	G	T	42522547	3	4	446	1	0	0	0	0	1	0	0	0	5099	1020	36	5	1430	5	EML4	2	42522547	Missense_Mutation	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08	41034054	42522547	200676826	13	30663											
MCM6	4175	broad.mit.edu	37	chr2	136623784	136623784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccaagggcccggagtcctCgaatgccttctgtctcatat	8	10	9	14	2	2	0	1	0	2	0	5	2	3	1	4	2	1	0	4	2	3	2			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr2:136623784C>T	ENST00000264156.2	-	6	905	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	MCM6_ENST00000492091.1_5'Flank	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	282					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			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)		CCGGAGTCCTCGAATGCCTTC	0.488																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(844-846)cGa>cAa		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						168	159	162					2																	136623784		2203	4300	6503	SO:0001583	missense	4175				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	g.chr2:136623784C>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"MIS5 homolog (S.pombe)"	601806	"minichromosome maintenance deficient (mis5, S. pombe) 6", "MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)", "minichromosome maintenance deficient 6 homolog (S. cerevisiae)"				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.845G>A	2.37:g.136623784C>T	ENSP00000264156:p.Arg282Gln						p.R282Q	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	6	905	-			282					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.845G>A	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387329	0.61956	.	.	ENSG00000076003	ENST00000264156	T	0.03124	4.04	6.04	5.17	0.71159	.	0.112873	0.64402	D	0.000012	T	0.03477	0.0100	L	0.31664	0.95	0.49687	D	0.99981	B	0.22003	0.063	B	0.16722	0.016	T	0.51148	-0.8742	10	0.24483	T	0.36	-9.055	10.8455	0.46741	0.0:0.8014:0.1314:0.0672	.	282	Q14566	MCM6_HUMAN	Q	282	ENSP00000264156:R282Q	ENSP00000264156:R282Q	R	-	2	0	MCM6	136340254	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	3.724000	0.54962	1.565000	0.49641	0.563000	0.77884	CGA		0.488	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		15	95	0	0	0	1	0	15	95					T	136623784	C	T	136623784	3	4	446	1	0	0	0	0	1	0	0	0	9391	884	31	2	1668	2	MCM6	2	136623784	Missense_Mutation	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08	94101237	136623784	106575589	14	30664											
LRP1B	53353	broad.mit.edu	37	chr2	141245239	141245239	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgcgactgccattgggtcGgctagaatcgatccaataga	11	10	11	9	3	0	2	0	0	0	2	3	4	1	2	2	2	2	1	2	2	5	4			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr2:141245239G>A	ENST00000389484.3	-	58	10161	c.9190C>T	c.(9190-9192)Cga>Tga	p.R3064*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3064					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			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)		CCATTGGGTCGGCTAGAATCG	0.313										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(9190-9192)Cga>Tga		low density lipoprotein receptor-related protein 1B							93	95	94					2																	141245239		2203	4292	6495	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141245239G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9190C>T	2.37:g.141245239G>A	ENSP00000374135:p.Arg3064*	TSP Lung(27;0.18)					p.R3064*	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		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)	58	10161	-		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)	3064					Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.9190C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	55	24.185479	0.99959	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.77	1.45	0.22620	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	9.9117	0.41411	0.0797:0.0:0.2109:0.7094	.	.	.	.	X	3064;3002	.	ENSP00000374135:R3064X	R	-	1	2	LRP1B	140961709	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.054000	0.49908	0.264000	0.21851	0.650000	0.86243	CGA		0.313	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		3	77	0	0	0	1	0	3	77					A	141245239	G	A	141245239	4	1	446	1	0	0	0	0	0	1	0	0	8955	1124	39	2	4745	2	LRP1B	2	141245239	Nonsense_Mutation	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08	4621455	141245239	101954134	15	30665											
ABCA12	26154	broad.mit.edu	37	chr2	215866294	215866294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacttacttccaaagagttCgttgcttttgtagagccttt	8	16	8	9	1	0	2	0	0	0	2	2	2	1	2	2	0	3	5	2	0	3	8			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr2:215866294C>T	ENST00000272895.7	-	21	3070	c.2851G>A	c.(2851-2853)Gaa>Aaa	p.E951K	ABCA12_ENST00000389661.4_Missense_Mutation_p.E633K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	951					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCAAAGAGTTCGTTGCTTTTG	0.383																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(2851-2853)Gaa>Aaa		ATP-binding cassette, sub-family A (ABC1), member 12							182	175	178					2																	215866294		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215866294C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2851G>A	2.37:g.215866294C>T	ENSP00000272895:p.Glu951Lys					ABCA12_ENST00000389661.4_Missense_Mutation_p.E633K	p.E951K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	21	3070	-		Renal(323;0.127)	951					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.2851G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	9.110	1.006307	0.19199	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.86030	-2.06;-2.06	5.97	5.97	0.96955	.	0.245896	0.35646	N	0.003075	T	0.63212	0.2492	N	0.04746	-0.17	0.80722	D	1	P;B	0.40211	0.707;0.037	B;B	0.29440	0.102;0.021	T	0.67142	-0.5745	10	0.12103	T	0.63	.	10.9876	0.47530	0.0:0.8017:0.1295:0.0688	.	951;633	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	K	951;633	ENSP00000272895:E951K;ENSP00000374312:E633K	ENSP00000272895:E951K	E	-	1	0	ABCA12	215574539	0.997000	0.39634	1.000000	0.80357	0.874000	0.50279	3.595000	0.54016	2.838000	0.97847	0.561000	0.74099	GAA		0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		5	96	0	0	0	1	0	5	96					T	215866294	C	T	215866294	3	4	446	1	0	0	0	0	1	0	0	0	30	893	31	2	5068	2	ABCA12	2	215866294	Missense_Mutation	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08	74621055	215866294	27333079	16	30666											
UGT1A10	54575	broad.mit.edu	37	chr2	234545792	234545792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actttcaaggagagagtatgGaaccacatcgtgcacttgga	13	9	11	8	1	1	1	1	0	0	1	2	5	1	4	1	3	2	2	1	3	3	3	rs144759885	byFrequency	TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr2:234545792G>T	ENST00000344644.5	+	1	693	c.624G>T	c.(622-624)tgG>tgT	p.W208C	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.W208C	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	208					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	AGAGAGTATGGAACCACATCG	0.458																																						ENST00000344644.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(622-624)tgG>tgT									203	208	206					2																	234545792		2203	4300	6503	SO:0001583	missense	0							g.chr2:234545792G>T	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"UDP glucuronosyltransferases"	12531	other	complex locus constituent		606435	"UDP glycosyltransferase 1 family, polypeptide A10"			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.624G>T	2.37:g.234545792G>T	ENSP00000343838:p.Trp208Cys					UGT1A10_ENST00000373445.1_Missense_Mutation_p.W208C|UGT1A8_ENST00000373450.4_Intron	p.W208C	NM_019075.2	NP_061948.1				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	693	+		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)						O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.624G>T	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	G	5.359	0.251540	0.10185	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.59224	0.28;0.28	3.52	2.6	0.31112	.	.	.	.	.	T	0.59662	0.2210	L	0.52266	1.64	0.37575	D	0.919596	D;D	0.54207	0.965;0.965	P;P	0.54544	0.755;0.755	T	0.63734	-0.6570	9	0.72032	D	0.01	.	6.9734	0.24662	0.1512:0.1611:0.6877:0.0	.	208;208	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	C	208	ENSP00000343838:W208C;ENSP00000362544:W208C	ENSP00000343838:W208C	W	+	3	0	UGT1A10	234210531	0.007000	0.16637	0.030000	0.17652	0.130000	0.20726	0.074000	0.14662	0.810000	0.34279	0.405000	0.27470	TGG		0.458	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		5	199	1	0	0.00116845	1	0.00122687	5	199					T	234545792	G	T	234545792	3	4	446	1	0	0	0	0	1	0	0	0	16942	1183	41	5	626	5	UGT1A10	2	234545792	Missense_Mutation	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08	18679498	234545792	8653581	17	30667											
ERC2	26059	broad.mit.edu	37	chr3	56330243	56330243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattgagggtttgtttctgcGtttcaattctcagctccatt	6	18	8	9	1	3	1	2	1	2	0	5	1	4	1	1	1	2	4	1	1	1	6			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr3:56330243G>A	ENST00000288221.6	-	3	1133	c.878C>T	c.(877-879)aCg>aTg	p.T293M		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	293						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				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)		TTGTTTCTGCGTTTCAATTCT	0.458																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(877-879)aCg>aTg		ELKS/RAB6-interacting/CAST family member 2							293	292	292					3																	56330243		1953	4159	6112	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56330243G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.878C>T	3.37:g.56330243G>A	ENSP00000288221:p.Thr293Met						p.T293M	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	3	1133	-			293					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.878C>T	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234760	0.79800	.	.	ENSG00000187672	ENST00000288221	T	0.46451	0.87	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.66848	0.2831	M	0.72894	2.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.67799	-0.5577	10	0.87932	D	0	-15.8808	20.1615	0.98135	0.0:0.0:1.0:0.0	.	293	O15083	ERC2_HUMAN	M	293	ENSP00000288221:T293M	ENSP00000288221:T293M	T	-	2	0	ERC2	56305283	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	9.813000	0.99286	2.835000	0.97688	0.650000	0.86243	ACG		0.458	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		11	235	0	0	0	1	0	11	235					A	56330243	G	A	56330243	3	1	446	1	0	0	0	0	1	0	0	0	5211	1145	40	1	2045	1	ERC2	3	56330243	Missense_Mutation	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08		56330243	141692187	18	30668											
HRG	3273	broad.mit.edu	37	chr3	186394861	186394861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaacatcaatggtgtacCgcctcatttgggacatccct	10	11	9	11	1	2	1	2	1	0	1	3	3	3	2	3	2	2	1	3	2	3	2	rs143855375		TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr3:186394861C>T	ENST00000232003.4	+	7	847	c.767C>T	c.(766-768)cCg>cTg	p.P256L		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	256					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.P256Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		AATGGTGTACCGCCTCATTTG	0.448													C|||	1	0.000199681	8e-04	0	5008	,	,		17833	0		0	False		,,,				2504	0					ENST00000232003.4																			1	Substitution - Missense(1)	p.P256Q(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(766-768)cCg>cTg		histidine-rich glycoprotein							164	141	149					3																	186394861		2203	4300	6503	SO:0001583	missense	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186394861C>T		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"histidine-proline rich glycoprotein", "thrombophilia due to elevated HRG"	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.767C>T	3.37:g.186394861C>T	ENSP00000232003:p.Pro256Leu						p.P256L	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	7	847	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		256					B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	c.767C>T	CCDS3280.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.05	1.821900	0.32237	.	.	ENSG00000113905	ENST00000232003	T	0.18810	2.19	4.57	-9.14	0.00701	.	1.753150	0.02840	N	0.127864	T	0.11965	0.0291	L	0.36672	1.1	0.09310	N	1	P	0.39665	0.682	B	0.21151	0.033	T	0.16571	-1.0398	10	0.48119	T	0.1	1.5322	10.9516	0.47332	0.1484:0.4129:0.4388:0.0	.	256	P04196	HRG_HUMAN	L	256	ENSP00000232003:P256L	ENSP00000232003:P256L	P	+	2	0	HRG	187877555	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.248000	0.01189	-2.611000	0.00445	-0.516000	0.04426	CCG		0.448	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		35	70	0	0	0	1	0	35	70					T	186394861	C	T	186394861	3	4	446	1	0	0	0	0	1	0	0	0	7354	652	23	2	793	2	HRG	3	186394861	Missense_Mutation	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08	130064618	186394861	11627569	19	30669											
KIAA1530	57654	broad.mit.edu	37	chr4	1377682	1377682	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctcaccaacctgaaggctCaggctgataccgcccgcgct	8	6	10	17	3	2	2	2	2	0	0	2	2	2	2	5	2	2	3	5	2	3	1			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr4:1377682C>T	ENST00000389851.4	+	13	2437	c.1990C>T	c.(1990-1992)Cag>Tag	p.Q664*	UVSSA_ENST00000511563.1_Nonsense_Mutation_p.Q215*|UVSSA_ENST00000511216.1_Nonsense_Mutation_p.Q664*|UVSSA_ENST00000512728.1_Nonsense_Mutation_p.Q215*|UVSSA_ENST00000507531.1_Nonsense_Mutation_p.Q664*	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	664					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CCTGAAGGCTCAGGCTGATAC	0.637																																						ENST00000389851.4																			0											c.(1990-1992)Cag>Tag		UV-stimulated scaffold protein A							95	81	86					4																	1377682		2203	4300	6503	SO:0001587	stop_gained	57654							g.chr4:1377682C>T	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1990C>T	4.37:g.1377682C>T	ENSP00000374501:p.Gln664*					UVSSA_ENST00000511563.1_Nonsense_Mutation_p.Q215*|UVSSA_ENST00000511216.1_Nonsense_Mutation_p.Q664*|UVSSA_ENST00000507531.1_Nonsense_Mutation_p.Q664*|UVSSA_ENST00000512728.1_Nonsense_Mutation_p.Q215*	p.Q664*	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			13	2437	+			664					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Nonsense_Mutation	SNP	ENST00000389851.4	37	c.1990C>T	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	36	5.735112	0.96865	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	.	.	.	5.04	5.04	0.67666	.	0.396407	0.28135	N	0.016480	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	13.7333	0.62802	0.1541:0.8458:0.0:0.0	.	.	.	.	X	664;664;664;215;215	.	ENSP00000374501:Q664X	Q	+	1	0	KIAA1530	1367682	0.999000	0.42202	0.029000	0.17559	0.017000	0.09413	2.305000	0.43664	2.501000	0.84356	0.549000	0.68633	CAG		0.637	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		6	49	0	0	0	1	0	6	49					T	1377682	C	T	1377682	4	4	446	1	0	0	0	0	0	1	0	0	8241	827	29	3	2036	3	KIAA1530	4	1377682	Nonsense_Mutation	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08		1377682	189776594	20	30670											
MYO10	4651	broad.mit.edu	37	chr5	16671017	16671017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgcagatactggagtCgcagggcagcaagaacctgg	10	5	13	13	1	0	2	0	0	0	2	1	3	0	3	3	3	4	4	3	3	3	1			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr5:16671017C>A	ENST00000513610.1	-	39	5955	c.5501G>T	c.(5500-5502)cGa>cTa	p.R1834L	MYO10_ENST00000427430.2_Missense_Mutation_p.R1191L|MYO10_ENST00000274203.9_Missense_Mutation_p.R1191L|MYO10_ENST00000515803.1_Missense_Mutation_p.R1173L|MYO10_ENST00000505695.1_Missense_Mutation_p.R1173L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1834	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			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						ATACTGGAGTCGCAGGGCAGC	0.567																																						ENST00000513610.1																			0				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						c.(5500-5502)cGa>cTa		myosin X							39	45	43					5																	16671017		2020	4186	6206	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16671017C>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5501G>T	5.37:g.16671017C>A	ENSP00000421280:p.Arg1834Leu					MYO10_ENST00000427430.2_Missense_Mutation_p.R1191L|MYO10_ENST00000515803.1_Missense_Mutation_p.R1173L|MYO10_ENST00000274203.9_Missense_Mutation_p.R1191L|MYO10_ENST00000505695.1_Missense_Mutation_p.R1173L	p.R1834L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			39	5955	-			1834			FERM.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.5501G>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635418	0.87760	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.52	5.52	0.82312	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	D	0.89354	0.6691	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.87783	0.2613	9	0.32370	T	0.25	.	19.4559	0.94889	0.0:1.0:0.0:0.0	.	713;1474;1834	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	L	1834;1173;1191;1173;1191	ENSP00000421280:R1834L;ENSP00000425051:R1173L;ENSP00000274203:R1191L;ENSP00000421170:R1173L;ENSP00000391106:R1191L	ENSP00000274203:R1191L	R	-	2	0	MYO10	16724017	1.000000	0.71417	0.998000	0.56505	0.467000	0.32768	7.781000	0.85668	2.586000	0.87340	0.563000	0.77884	CGA		0.567	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		6	18	1	0	1.6384e-10	1	1.81086e-10	6	18					A	16671017	C	A	16671017	3	1	446	1	0	0	0	0	1	0	0	0	10062	884	31	5	687	5	MYO10	5	16671017	Missense_Mutation	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08		16671017	164244243	21	30671											
MOCS2	4338	broad.mit.edu	37	chr5	52394453	52394453	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taactgttggatgcccaaaaGcactctttgtttcctttcca	9	15	6	11	0	1	0	0	0	1	0	3	1	3	1	3	1	3	3	3	1	3	5			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr5:52394453G>A	ENST00000396954.3	-	7	1223	c.546C>T	c.(544-546)tgC>tgT	p.C182C	MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000582677.1_3'UTR	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				ATGCCCAAAAGCACTCTTTGT	0.289																																						ENST00000396954.3																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(544-546)tgC>tgT		molybdenum cofactor synthesis 2							132	124	127					5																	52394453		2203	4300	6503	SO:0001819	synonymous_variant	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52394453G>A	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.546C>T	5.37:g.52394453G>A						MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000582677.1_3'UTR	p.C182C	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN			7	1223	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	0						Silent	SNP	ENST00000396954.3	37	c.546C>T	CCDS3958.1																																																																																				0.289	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		7	36	0	0	0	1	0	7	36					A	52394453	G	A	52394453	2	1	446	1	0	0	0	0	0	0	0	1	9691	963	34	3		3	MOCS2	5	52394453	Silent	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08	35723436	52394453	128520807	22	30672											
FARS2	10667	broad.mit.edu	37	chr6	5545497	5545497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgacatccctgatatccGtctcttctggtgtgaggacg	7	12	10	12	3	2	2	0	2	2	0	5	4	4	3	2	2	1	0	2	2	2	3			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr6:5545497G>A	ENST00000324331.6	+	5	1325	c.989G>A	c.(988-990)cGt>cAt	p.R330H	FARS2_ENST00000274680.4_Missense_Mutation_p.R330H			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	330					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)	p.R330H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CCTGATATCCGTCTCTTCTGG	0.473																																						ENST00000324331.6																			1	Substitution - Missense(1)	p.R330H(1)	endometrium(1)	endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15						c.(988-990)cGt>cAt		phenylalanyl-tRNA synthetase 2, mitochondrial	L-Phenylalanine(DB00120)						207	200	202					6																	5545497		2203	4300	6503	SO:0001583	missense	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5545497G>A	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	21062	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 2, mitochondrial"	611592	"phenylalanine-tRNA synthetase 1 (mitochondrial)"	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.989G>A	6.37:g.5545497G>A	ENSP00000316335:p.Arg330His					FARS2_ENST00000274680.4_Missense_Mutation_p.R330H	p.R330H			O95363	SYFM_HUMAN			5	1325	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	330					B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	c.989G>A	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130846	0.94473	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	D;D	0.82893	-1.66;-1.66	5.27	5.27	0.74061	Aminoacyl-tRNA synthetase, class II (1);Phenylalanyl-tRNA synthetase (1);	0.064498	0.64402	D	0.000006	D	0.93184	0.7829	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94853	0.8015	10	0.87932	D	0	-11.8551	17.8691	0.88806	0.0:0.0:1.0:0.0	.	330	O95363	SYFM_HUMAN	H	330	ENSP00000274680:R330H;ENSP00000316335:R330H	ENSP00000274680:R330H	R	+	2	0	FARS2	5490496	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.399000	0.97285	2.445000	0.82738	0.563000	0.77884	CGT		0.473	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		46	89	0	0	0	1	0	46	89					A	5545497	G	A	5545497	3	1	446	1	0	0	0	0	1	0	0	0	5678	1145	40	1	1003	1	FARS2	6	5545497	Missense_Mutation	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08		5545497	165569570	23	30673											
DHX16	8449	broad.mit.edu	37	chr6	30632730	30632730	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggcctggatggactcttTctgctgggcctgagttgaag	6	11	15	9	1	2	2	0	2	2	0	2	5	2	4	2	4	1	2	2	4	1	2			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr6:30632730T>C	ENST00000376442.3	-	7	1360	c.1165A>G	c.(1165-1167)Aaa>Gaa	p.K389E	DHX16_ENST00000376437.5_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	389					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						ATGGACTCTTTCTGCTGGGCC	0.552																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(1165-1167)Aaa>Gaa		DEAH (Asp-Glu-Ala-His) box polypeptide 16							50	52	52					6																	30632730		1511	2709	4220	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30632730T>C	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1165A>G	6.37:g.30632730T>C	ENSP00000365625:p.Lys389Glu						p.K389E	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			7	1360	-			389					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.1165A>G	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.965990	0.53507	.	.	ENSG00000204560	ENST00000376442	T	0.02552	4.25	5.18	2.78	0.32641	.	0.178977	0.50627	D	0.000108	T	0.01661	0.0053	N	0.20610	0.595	0.80722	D	1	P;P	0.51653	0.947;0.774	P;P	0.58970	0.849;0.474	T	0.63778	-0.6560	10	0.25106	T	0.35	.	5.6776	0.17757	0.0:0.089:0.1733:0.7377	.	329;389	B4DZ28;O60231	.;DHX16_HUMAN	E	389	ENSP00000365625:K389E	ENSP00000365625:K389E	K	-	1	0	DHX16	30740709	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.757000	0.47557	0.789000	0.33779	0.402000	0.26972	AAA		0.552	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		15	22	0	0	0	1	0	15	22					C	30632730	T	C	30632730	3	2	446	1	0	0	0	0	1	0	0	0	4502	1792	62	4	2016	4	DHX16	6	30632730	Missense_Mutation	SNP	T	TCGA-Y6-A9XI-01A-11D-A41K-08	25087233	30632730	140482337	24	30674											
AMZ1	155185	broad.mit.edu	37	chr7	2752464	2752464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagctgagtgcccgaaaactCgccagagcagagtcggcccc	11	4	12	14	3	0	3	0	1	0	2	2	4	0	3	4	1	4	2	4	1	3	0			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr7:2752464C>T	ENST00000312371.4	+	7	1817	c.1449C>T	c.(1447-1449)ctC>ctT	p.L483L	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	483							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCCGAAAACTCGCCAGAGCAG	0.647																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(1447-1449)ctC>ctT		archaelysin family metallopeptidase 1							29	33	32					7																	2752464		2198	4287	6485	SO:0001819	synonymous_variant	155185						metallopeptidase activity|zinc ion binding	g.chr7:2752464C>T	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1449C>T	7.37:g.2752464C>T						AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	p.L483L	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	7	1817	+		Ovarian(82;0.0779)	483					B3KRS0|Q8TF51	Silent	SNP	ENST00000312371.4	37	c.1449C>T	CCDS34589.1																																																																																				0.647	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		11	41	0	0	0	1	0	11	41					T	2752464	C	T	2752464	2	4	446	1	0	0	0	0	0	0	0	1	596	871	31	2		2	AMZ1	7	2752464	Silent	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08		2752464	156386199	25	30675											
SSPO	23145	broad.mit.edu	37	chr7	149497093	149497093	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gactccagcgacccctgctgGtaagatgccaagcccttcta	9	8	9	15	1	1	1	0	0	1	1	2	3	2	1	5	1	4	2	5	1	3	3			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr7:149497093G>C	ENST00000378016.2	+	0	7132							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCCCTGCTGGTAAGATGCCA	0.612																																						ENST00000378016.2																			0													SCO-spondin							46	53	51					7																	149497093		2062	4194	6256			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149497093G>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149497093G>C										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	7132	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.612	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	21	0	0	0	1	0	5	21					C	149497093	G	C	149497093	1	2	446	0	1	0	0	0	0	0	0	0	15188	1275	44	5		5	SSPO	7	149497093	RNA	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08	146744629	149497093	9641570	26	30676											
FRMD3	257019	broad.mit.edu	37	chr9	85924472	85924472	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataaaaggcctggttttccActccacacttccaaagatgt	12	12	6	11	0	0	1	0	0	0	1	3	1	3	1	4	2	0	1	4	2	4	5			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr9:85924472A>G	ENST00000304195.3	-	10	1111	c.905T>C	c.(904-906)gTg>gCg	p.V302A	FRMD3_ENST00000376434.1_Missense_Mutation_p.V108A|FRMD3_ENST00000376438.1_Missense_Mutation_p.V302A	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	302	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CTGGTTTTCCACTCCACACTT	0.348																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(904-906)gTg>gCg		FERM domain containing 3							49	47	48					9																	85924472		1805	4068	5873	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85924472A>G	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.905T>C	9.37:g.85924472A>G	ENSP00000303508:p.Val302Ala					FRMD3_ENST00000376434.1_Missense_Mutation_p.V108A|FRMD3_ENST00000376438.1_Missense_Mutation_p.V302A	p.V302A	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			10	1111	-			302			FERM.		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.905T>C	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682585	0.88542	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000304195;ENST00000431299;ENST00000376422	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	5.46	5.46	0.80206	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.93943	0.8061	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.71414	0.973;0.954	D	0.94914	0.8067	10	0.87932	D	0	.	15.5144	0.75812	1.0:0.0:0.0:0.0	.	302;302	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	A	302;108;302;71;198	ENSP00000365621:V302A;ENSP00000365617:V108A;ENSP00000303508:V302A;ENSP00000412719:V71A	ENSP00000303508:V302A	V	-	2	0	FRMD3	85114292	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.054000	0.93866	2.202000	0.70862	0.533000	0.62120	GTG		0.348	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		12	32	0	0	0	1	0	12	32					G	85924472	A	G	85924472	3	3	446	1	0	0	0	0	1	0	0	0	6050	159	6	4	908	4	FRMD3	9	85924472	Missense_Mutation	SNP	A	TCGA-Y6-A9XI-01A-11D-A41K-08		85924472	55288959	27	30677											
NINJ1	4814	broad.mit.edu	37	chr9	95888798	95888798	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggggccctgttccacgacGgccttcagctgggacgcgtt	4	9	14	14	4	1	0	1	0	0	0	2	2	2	1	3	4	1	3	3	4	0	3	rs372269819		TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr9:95888798G>A	ENST00000375446.4	-	2	268	c.198C>T	c.(196-198)gcC>gcT	p.A66A	NINJ1_ENST00000489274.1_5'Flank	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	66					cell adhesion (GO:0007155)|hyaloid vascular plexus regression (GO:1990384)|nervous system development (GO:0007399)|positive regulation of cell-matrix adhesion (GO:0001954)|tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						GTTCCACGACGGCCTTCAGCT	0.622																																						ENST00000375446.4																			0				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						c.(196-198)gcC>gcT		ninjurin 1		G		0,4406		0,0,2203	115	93	100		198	-0.7	1	9		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NINJ1	NM_004148.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		66/153	95888798	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4814				cell adhesion|nervous system development|tissue regeneration	integral to membrane		g.chr9:95888798G>A	U91512	CCDS6703.1	9q22	2008-07-21			ENSG00000131669	ENSG00000131669			7824	protein-coding gene	gene with protein product	"nerve injury-induced protein-1"	602062				8780658	Standard	NM_004148		Approved	NIN1	uc004atg.4	Q92982	OTTHUMG00000020242	ENST00000375446.4:c.198C>T	9.37:g.95888798G>A							p.A66A	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN			2	268	-			66					Q6GU89|Q8WUV5|Q9BT07	Silent	SNP	ENST00000375446.4	37	c.198C>T	CCDS6703.1																																																																																				0.622	NINJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053123.2	NM_004148		6	57	0	0	0	1	0	6	57					A	95888798	G	A	95888798	2	1	446	1	0	0	0	0	0	0	0	1	10418	1103	39	2		2	NINJ1	9	95888798	Silent	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08	9964326	95888798	45324633	28	30678											
TEX10	54881	broad.mit.edu	37	chr9	103066107	103066108	+	Frame_Shift_Ins	INS	-	-	C																															agccaggatggagacacagaINSccccccacagcttgtcccta																										TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr9:103066107_103066108insC	ENST00000374902.4	-	14	2658_2659	c.2482_2483insG	c.(2482-2484)gtcfs	p.V828fs	TEX10_ENST00000535814.1_Intron|TEX10_ENST00000477648.1_5'UTR	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	828						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GGAGACACAGACCCCCCACAGC	0.545																																						ENST00000374902.4																			0				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38						c.(2482-2484)ctgfs		testis expressed 10																																				SO:0001589	frameshift_variant	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103066107_103066108insC	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.2483dupG	9.37:g.103066113_103066113dupC	ENSP00000364037:p.Val828fs					TEX10_ENST00000477648.1_5'UTR|TEX10_ENST00000535814.1_Intron	p.L828fs	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	14	2658_2659	-		Acute lymphoblastic leukemia(62;0.0527)	828					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Frame_Shift_Ins	INS	ENST00000374902.4	37	c.2482_2483insG	CCDS6748.1																																																																																				0.545	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		9	39						9	39	---	---	---	---	C	103066108	-	C	103066107	7	5	446	1	0	1	1	0	0	0	0	0	15769	275	10	0	314	0	TEX10	9	103066107	Frame_Shift_Ins	INS	-	TCGA-Y6-A9XI-01A-11D-A41K-08	7177309	103066107	38147324	29	30679											
PCDH15	65217	broad.mit.edu	37	chr10	55826543	55826543	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacccacaaaggcattggCttcttcttccaccacagata	11	11	6	13	0	2	2	0	1	2	1	3	2	3	2	3	2	0	2	3	2	2	6	rs148162562	byFrequency	TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr10:55826543C>A	ENST00000320301.6	-	18	2588	c.2194G>T	c.(2194-2196)Gcc>Tcc	p.A732S	PCDH15_ENST00000395432.2_Missense_Mutation_p.A695S|PCDH15_ENST00000395430.1_Missense_Mutation_p.A732S|PCDH15_ENST00000437009.1_Missense_Mutation_p.A661S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.A343S|PCDH15_ENST00000373955.1_Missense_Mutation_p.A732S|PCDH15_ENST00000361849.3_Missense_Mutation_p.A732S|PCDH15_ENST00000414778.1_Missense_Mutation_p.A737S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A710S|PCDH15_ENST00000395438.1_Missense_Mutation_p.A732S|PCDH15_ENST00000373965.2_Missense_Mutation_p.A739S|PCDH15_ENST00000395445.1_Missense_Mutation_p.A739S|PCDH15_ENST00000373957.3_Missense_Mutation_p.A710S	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	732	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			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)				AAGGCATTGGCTTCTTCTTCC	0.343										HNSCC(58;0.16)																												ENST00000373965.2																			0				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						c.(2215-2217)Gcc>Tcc		protocadherin-related 15							98	90	93					10																	55826543		2203	4300	6503	SO:0001583	missense	65217				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	g.chr10:55826543C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2194G>T	10.37:g.55826543C>A	ENSP00000322604:p.Ala732Ser	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Missense_Mutation_p.A710S|PCDH15_ENST00000395445.1_Missense_Mutation_p.A739S|PCDH15_ENST00000373955.1_Missense_Mutation_p.A732S|PCDH15_ENST00000414778.1_Missense_Mutation_p.A737S|PCDH15_ENST00000361849.3_Missense_Mutation_p.A732S|PCDH15_ENST00000395430.1_Missense_Mutation_p.A732S|PCDH15_ENST00000373957.3_Missense_Mutation_p.A710S|PCDH15_ENST00000437009.1_Missense_Mutation_p.A661S|PCDH15_ENST00000395432.2_Missense_Mutation_p.A695S|PCDH15_ENST00000409834.1_Missense_Mutation_p.A343S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.A732S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.A732S	p.A739S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			19	2609	-		Melanoma(3;0.117)|Lung SC(717;0.238)	732			Cadherin 7.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2215G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009923	0.75046	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.58652	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.32;0.71;0.71;0.71;0.71	5.85	3.96	0.45880	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.48660	0.1512	N	0.11651	0.15	0.47819	D	0.99952	P;B;B;B;D;B;P;B;B;B;B;B;P;P;B	0.55800	0.929;0.368;0.1;0.425;0.973;0.1;0.929;0.242;0.392;0.392;0.242;0.418;0.68;0.61;0.1	P;B;B;B;P;B;P;B;B;B;B;B;B;B;B	0.59171	0.853;0.14;0.098;0.098;0.842;0.14;0.853;0.145;0.241;0.173;0.159;0.223;0.281;0.146;0.098	T	0.48479	-0.9032	9	0.42905	T	0.14	.	6.2383	0.20776	0.1358:0.6599:0.1315:0.0728	.	710;732;732;737;661;695;732;732;739;739;732;737;732;710;732	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	S	739;737;732;732;343;739;695;732;710;710;732;732;737;661;732	ENSP00000363076:A739S;ENSP00000410304:A737S;ENSP00000378826:A732S;ENSP00000386693:A343S;ENSP00000378832:A739S;ENSP00000378820:A695S;ENSP00000354950:A732S;ENSP00000378821:A710S;ENSP00000363068:A710S;ENSP00000322604:A732S;ENSP00000378818:A732S;ENSP00000412628:A661S;ENSP00000363066:A732S	ENSP00000322604:A732S	A	-	1	0	PCDH15	55496549	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.921000	0.48852	1.464000	0.47987	0.655000	0.94253	GCC		0.343	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		12	41	1	0	7.93312e-07	1	8.61701e-07	12	41					A	55826543	C	A	55826543	3	1	446	1	0	0	0	0	1	0	0	0	11511	797	28	5	5356	5	PCDH15	10	55826543	Missense_Mutation	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08		55826543	79708204	30	30680											
NDST2	8509	broad.mit.edu	37	chr10	75567489	75567489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcaccaggcagtggccCtggttctaggcggctggggc	5	8	16	12	1	3	0	2	0	1	0	3	0	3	0	2	7	0	3	2	7	1	2			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr10:75567489C>T	ENST00000309979.6	-	3	1214	c.658G>A	c.(658-660)Ggg>Agg	p.G220R	NDST2_ENST00000398701.2_5'Flank|NDST2_ENST00000299641.4_Missense_Mutation_p.G97R|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.G220R			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	220	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			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)					GGCAGTGGCCCTGGTTCTAGG	0.557																																						ENST00000299641.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(289-291)Ggg>Agg		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2							67	63	64					10																	75567489		2203	4300	6503	SO:0001583	missense	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75567489C>T	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.658G>A	10.37:g.75567489C>T	ENSP00000310657:p.Gly220Arg					NDST2_ENST00000309979.6_Missense_Mutation_p.G220R	p.G97R	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN			4	1259	-	Prostate(51;0.0112)		220			Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.289G>A	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321185	0.81580	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.47177	1.14;0.85	5.97	5.97	0.96955	.	0.045732	0.85682	D	0.000000	T	0.73087	0.3542	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74420	-0.3671	10	0.72032	D	0.01	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	97;220	B4E139;P52849	.;NDST2_HUMAN	R	220;97	ENSP00000310657:G220R;ENSP00000299641:G97R	ENSP00000299641:G97R	G	-	1	0	NDST2	75237495	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	7.810000	0.86072	2.837000	0.97791	0.655000	0.94253	GGG		0.557	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		15	14	0	0	0	1	0	15	14					T	75567489	C	T	75567489	3	4	446	1	0	0	0	0	1	0	0	0	10256	681	24	3	2045	3	NDST2	10	75567489	Missense_Mutation	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08	19740946	75567489	59967258	31	30681											
IFIT5	24138	broad.mit.edu	37	chr10	91177745	91177745	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttctataggagaaaaaaTtcctggaacaaagctctcga	17	9	8	7	1	2	1	0	0	2	1	4	4	3	2	1	2	2	2	1	2	8	4			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr10:91177745T>A	ENST00000371795.4	+	2	1002	c.789T>A	c.(787-789)aaT>aaA	p.N263K	IFIT5_ENST00000416601.1_Missense_Mutation_p.N215K	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	263					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						GGAGAAAAAATTCCTGGAACA	0.433																																						ENST00000371795.4																			0				endometrium(1)|large_intestine(4)|lung(4)	9						c.(787-789)aaT>aaA		interferon-induced protein with tetratricopeptide repeats 5							77	82	81					10																	91177745		2202	4299	6501	SO:0001583	missense	24138						binding	g.chr10:91177745T>A	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"Tetratricopeptide (TTC) repeat domain containing"	13328	protein-coding gene	gene with protein product	"retinoic acid- and interferon-inducible protein (58kD)"					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.789T>A	10.37:g.91177745T>A	ENSP00000360860:p.Asn263Lys					IFIT5_ENST00000416601.1_Missense_Mutation_p.N215K	p.N263K	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN			2	1002	+			263					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	c.789T>A	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.411613	0.25465	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;D	0.87491	0.64;-2.26	5.79	-2.1	0.07210	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.853203	0.10652	N	0.649813	T	0.67822	0.2934	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.52756	-0.8533	10	0.44086	T	0.13	-4.7999	1.6048	0.02681	0.4432:0.2017:0.2296:0.1254	.	263;215	Q13325;B4DDV1	IFIT5_HUMAN;.	K	263;215	ENSP00000360860:N263K;ENSP00000414042:N215K	ENSP00000360860:N263K	N	+	3	2	IFIT5	91167725	0.000000	0.05858	0.560000	0.28344	0.977000	0.68977	-0.297000	0.08276	-0.793000	0.04475	0.533000	0.62120	AAT		0.433	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		12	63	0	0	0	1	0	12	63					A	91177745	T	A	91177745	3	1	446	1	0	0	0	0	1	0	0	0	7525	1490	52	5	795	5	IFIT5	10	91177745	Missense_Mutation	SNP	T	TCGA-Y6-A9XI-01A-11D-A41K-08	15610256	91177745	44357002	32	30682											
SLC6A5	9152	broad.mit.edu	37	chr11	20652328	20652328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggcttcatggccaatgaaCgcaaagtcaacattgagaat	14	9	9	9	2	2	2	2	2	0	1	3	3	2	2	1	2	2	2	1	2	5	2			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr11:20652328C>T	ENST00000525748.1	+	10	1864	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	531					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GGCCAATGAACGCAAAGTCAA	0.507																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(1591-1593)Cgc>Tgc		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						153	124	134					11																	20652328		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20652328C>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1591C>T	11.37:g.20652328C>T	ENSP00000434364:p.Arg531Cys					SLC6A5_ENST00000528440.1_3'UTR	p.R531C	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			10	1864	+			531					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1591C>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704667	0.68615	.	.	ENSG00000165970	ENST00000525748	T	0.74526	-0.85	5.57	5.57	0.84162	.	0.056864	0.64402	D	0.000001	T	0.81621	0.4861	M	0.62209	1.925	0.53688	D	0.999977	D	0.57899	0.981	P	0.53809	0.735	T	0.82870	-0.0243	10	0.62326	D	0.03	.	19.54	0.95270	0.0:1.0:0.0:0.0	.	531	Q9Y345	SC6A5_HUMAN	C	531	ENSP00000434364:R531C	ENSP00000434364:R531C	R	+	1	0	SLC6A5	20608904	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.934000	0.63491	2.618000	0.88619	0.655000	0.94253	CGC		0.507	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		5	35	0	0	0	1	0	5	35					T	20652328	C	T	20652328	3	4	446	1	0	0	0	0	1	0	0	0	14687	536	19	1	1629	1	SLC6A5	11	20652328	Missense_Mutation	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08		20652328	114354188	33	30683											
OR4A16	81327	broad.mit.edu	37	chr11	55111638	55111638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgaacatatttattcctaGttctaaggcaacaaataggc	15	12	6	8	0	1	1	0	1	1	0	2	1	2	1	1	2	2	2	1	2	8	8			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr11:55111638G>A	ENST00000314721.2	+	1	1012	c.962G>A	c.(961-963)aGt>aAt	p.S321N		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	321						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTTATTCCTAGTTCTAAGGCA	0.343																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(961-963)aGt>aAt		olfactory receptor, family 4, subfamily A, member 16							23	24	23					11																	55111638		2194	4276	6470	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111638G>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.962G>A	11.37:g.55111638G>A	ENSP00000325128:p.Ser321Asn						p.S321N	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	1012	+			321					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.962G>A	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	5.966	0.362163	0.11296	.	.	ENSG00000181961	ENST00000314721	T	0.00006	9.74	3.64	-5.9	0.02275	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.03773	-1.1005	9	0.59425	D	0.04	.	7.2677	0.26239	0.3123:0.1523:0.5353:0.0	.	321	Q8NH70	O4A16_HUMAN	N	321	ENSP00000325128:S321N	ENSP00000325128:S321N	S	+	2	0	OR4A16	54868214	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-1.926000	0.01562	-1.175000	0.02751	-0.298000	0.09462	AGT		0.343	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		13	14	0	0	0	1	0	13	14					A	55111638	G	A	55111638	3	1	446	1	0	0	0	0	1	0	0	0	11041	1029	36	3	964	3	OR4A16	11	55111638	Missense_Mutation	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08	34459310	55111638	79894878	34	30684											
SPTBN2	6712	broad.mit.edu	37	chr11	66478213	66478213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtatttctccaccaggcGctctgcctccatggcatggt	5	12	9	15	2	2	0	0	0	2	0	5	0	3	0	4	3	1	3	4	3	1	2	rs372293906		TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr11:66478213G>A	ENST00000533211.1	-	10	1244	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R305C|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R305C|RN7SL12P_ENST00000473849.2_RNA			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	305					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCACCAGGCGCTCTGCCTCC	0.627																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(913-915)Cgc>Tgc		spectrin, beta, non-erythrocytic 2		G	CYS/ARG	0,4400		0,0,2200	64	55	58		913	4	1	11		58	1,8589	1.2+/-3.3	0,1,4294	no	missense	SPTBN2	NM_006946.2	180	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	305/2391	66478213	1,12989	2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66478213G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.913C>T	11.37:g.66478213G>A	ENSP00000432568:p.Arg305Cys					SPTBN2_ENST00000529997.1_Missense_Mutation_p.R305C|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R305C	p.R305C			O15020	SPTN2_HUMAN			10	1244	-			305					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.913C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161514	0.78226	0.0	1.16E-4	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.69040	-0.37;-0.37;-0.37	5.0	4.04	0.47022	.	0.125415	0.56097	D	0.000028	T	0.78246	0.4253	M	0.79123	2.44	0.41027	D	0.985123	D	0.71674	0.998	P	0.61658	0.892	T	0.80527	-0.1343	10	0.56958	D	0.05	.	12.755	0.57331	0.0:0.0:0.7471:0.2529	.	305	O15020	SPTN2_HUMAN	C	305	ENSP00000432568:R305C;ENSP00000311489:R305C;ENSP00000433593:R305C	ENSP00000311489:R305C	R	-	1	0	SPTBN2	66234789	0.302000	0.24454	1.000000	0.80357	0.993000	0.82548	0.685000	0.25378	2.595000	0.87683	0.563000	0.77884	CGC		0.627	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		3	40	0	0	0	1	0	3	40					A	66478213	G	A	66478213	3	1	446	1	0	0	0	0	1	0	0	0	15119	1087	38	1	6375	1	SPTBN2	11	66478213	Missense_Mutation	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08	11366575	66478213	68528303	35	30685											
TAF1D	79101	broad.mit.edu	37	chr11	93469412	93469412	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcagtaatatcctctTcttctaagtatacactcagt	10	17	3	11	0	6	0	2	0	4	0	7	0	7	0	1	0	1	2	1	0	5	9	rs76450167		TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr11:93469412T>G	ENST00000448108.2	-	6	1402	c.752A>C	c.(751-753)gAa>gCa	p.E251A	TAF1D_ENST00000546088.1_5'Flank|MIR1304_ENST00000408243.1_RNA|SNORD5_ENST00000459342.1_RNA|SNORA40_ENST00000388090.1_RNA|SNORA18_ENST00000384416.1_RNA	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	251					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						AATATCCTCTTCTTCTAAGTA	0.363																																						ENST00000448108.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						c.(751-753)gAa>gCa		TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa							109	106	107					11																	93469412		2201	4297	6498	SO:0001583	missense	79101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr11:93469412T>G		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"Josephin domain containing 3"	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.752A>C	11.37:g.93469412T>G	ENSP00000410409:p.Glu251Ala						p.E251A	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN			6	1402	-			251					Q6I9Y6	Missense_Mutation	SNP	ENST00000448108.2	37	c.752A>C	CCDS8293.1	.	.	.	.	.	.	.	.	.	.	T	8.220	0.802276	0.16397	.	.	ENSG00000166012	ENST00000448108	.	.	.	4.94	3.81	0.43845	.	1.266200	0.05302	N	0.523259	T	0.22589	0.0545	N	0.08118	0	0.09310	N	1	B	0.30146	0.27	B	0.27262	0.078	T	0.24548	-1.0157	9	0.52906	T	0.07	-0.3343	8.6811	0.34209	0.0:0.0:0.2166:0.7834	.	251	Q9H5J8	TAF1D_HUMAN	A	251	.	ENSP00000314971:E251A	E	-	2	0	TAF1D	93109060	0.198000	0.23374	0.015000	0.15790	0.016000	0.09150	0.677000	0.25262	1.006000	0.39211	0.533000	0.62120	GAA		0.363	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		22	36	0	0	0	1	0	22	36					G	93469412	T	G	93469412	3	3	446	1	0	0	0	0	1	0	0	0	15519	1783	62	5	88	5	TAF1D	11	93469412	Missense_Mutation	SNP	T	TCGA-Y6-A9XI-01A-11D-A41K-08	26991199	93469412	41537104	36	30686											
KCNJ8	3764	broad.mit.edu	37	chr12	21919255	21919255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttcttgaccacctggatgCgcacagaggcactaatgatc	10	11	9	11	1	1	3	0	2	1	1	2	4	1	4	2	2	1	2	2	2	1	4			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr12:21919255C>T	ENST00000240662.2	-	3	1022	c.677G>A	c.(676-678)cGc>cAc	p.R226H	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	226					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	CACCTGGATGCGCACAGAGGC	0.493																																						ENST00000240662.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(676-678)cGc>cAc		potassium inwardly-rectifying channel, subfamily J, member 8	Levosimendan(DB00922)						145	132	137					12																	21919255		2203	4300	6503	SO:0001583	missense	3764					voltage-gated potassium channel complex		g.chr12:21919255C>T	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.677G>A	12.37:g.21919255C>T	ENSP00000240662:p.Arg226His					RP11-59N23.1_ENST00000542489.1_RNA	p.R226H	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN			3	1022	-			226					O00657	Missense_Mutation	SNP	ENST00000240662.2	37	c.677G>A	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153571	0.57259	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.92647	-3.08	5.11	5.11	0.69529	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.90676	0.7075	M	0.73372	2.23	0.58432	D	0.999992	B	0.32324	0.364	B	0.18561	0.022	D	0.90081	0.4170	10	0.54805	T	0.06	.	18.7389	0.91767	0.0:1.0:0.0:0.0	.	226	Q15842	IRK8_HUMAN	H	226	ENSP00000240662:R226H	ENSP00000240662:R226H	R	-	2	0	KCNJ8	21810522	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.962000	0.56766	2.667000	0.90743	0.563000	0.77884	CGC		0.493	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		45	65	0	0	0	1	0	45	65					T	21919255	C	T	21919255	3	4	446	1	0	0	0	0	1	0	0	0	8056	768	27	1	601	1	KCNJ8	12	21919255	Missense_Mutation	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08		21919255	111932640	37	30687											
HELB	92797	broad.mit.edu	37	chr12	66698594	66698594	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcttggtggagagtgaagGtacaagtaaagcctgtggtg	10	10	17	4	0	0	2	0	1	0	1	0	3	0	2	1	4	3	3	1	4	5	3			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr12:66698594G>C	ENST00000247815.4	+	2	330	c.271G>C	c.(271-273)Gta>Cta	p.V91L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	91					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GAGAGTGAAGGTACAAGTAAA	0.378																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(271-273)Gta>Cta		helicase (DNA) B							155	150	152					12																	66698594		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66698594G>C	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.271G>C	12.37:g.66698594G>C	ENSP00000247815:p.Val91Leu						p.V91L	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	2	330	+			91					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.271G>C	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016661	0.35606	.	.	ENSG00000127311	ENST00000247815	T	0.17854	2.25	4.87	3.97	0.46021	.	0.384986	0.24128	N	0.041298	T	0.15652	0.0377	L	0.45228	1.405	0.30282	N	0.791232	B	0.17465	0.022	B	0.14578	0.011	T	0.07290	-1.0780	9	.	.	.	-10.5064	13.7107	0.62667	0.0:0.295:0.705:0.0	.	91	Q8NG08	HELB_HUMAN	L	91	ENSP00000247815:V91L	.	V	+	1	0	HELB	64984861	1.000000	0.71417	0.915000	0.36163	0.755000	0.42902	2.245000	0.43133	1.033000	0.39918	0.455000	0.32223	GTA		0.378	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			12	66	0	0	0	1	0	12	66					C	66698594	G	C	66698594	3	2	446	1	0	0	0	0	1	0	0	0	7045	1261	44	5	277	5	HELB	12	66698594	Missense_Mutation	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08	44779339	66698594	67153301	38	30688											
KRR1	11103	broad.mit.edu	37	chr12	75893616	75893616	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcttctttttcttttcAtctgcctccatcttaagtgc	4	23	3	11	0	6	0	1	0	5	0	7	0	7	0	2	0	2	0	2	0	1	8			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr12:75893616A>C	ENST00000229214.4	-	10	1142	c.1119T>G	c.(1117-1119)gaT>gaG	p.D373E	KRR1_ENST00000438169.2_Missense_Mutation_p.D316E|GLIPR1_ENST00000266659.3_3'UTR	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	373	Lys-rich.				rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTTTCTTTTCATCTGCCTCCA	0.358																																						ENST00000229214.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(1117-1119)gaT>gaG		KRR1, small subunit (SSU) processome component, homolog (yeast)							84	77	80					12																	75893616		2203	4300	6503	SO:0001583	missense	11103				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding	g.chr12:75893616A>C	U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"HIV-1 rev binding protein 2", "HIV-1 Rev binding protein 2"	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.1119T>G	12.37:g.75893616A>C	ENSP00000229214:p.Asp373Glu					KRR1_ENST00000438169.2_Missense_Mutation_p.D316E|GLIPR1_ENST00000266659.3_3'UTR	p.D373E	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN			10	1142	-			373			Lys-rich.		A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	c.1119T>G	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	A	9.965	1.223765	0.22457	.	.	ENSG00000111615	ENST00000229214;ENST00000438169	T;T	0.40225	1.04;1.05	5.55	4.42	0.53409	.	0.527652	0.21888	N	0.067629	T	0.20333	0.0489	N	0.14661	0.345	0.25501	N	0.987555	B;B	0.20368	0.012;0.044	B;B	0.18561	0.022;0.022	T	0.29243	-1.0018	10	0.02654	T	1	-4.656	7.9628	0.30081	0.8288:0.0:0.1712:0.0	.	316;373	E7EUQ0;Q13601	.;KRR1_HUMAN	E	373;316	ENSP00000229214:D373E;ENSP00000411740:D316E	ENSP00000229214:D373E	D	-	3	2	KRR1	74179883	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	2.280000	0.43443	0.968000	0.38212	0.402000	0.26972	GAT		0.358	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043		14	25	0	0	0	1	0	14	25					C	75893616	A	C	75893616	3	2	446	1	0	0	0	0	1	0	0	0	8446	214	8	5	30	5	KRR1	12	75893616	Missense_Mutation	SNP	A	TCGA-Y6-A9XI-01A-11D-A41K-08	9195022	75893616	57958279	39	30689											
COQ5	84274	broad.mit.edu	37	chr12	120960123	120960123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagactcatcatatcattCatcacatcatacttcttagc	13	13	2	13	0	7	1	6	0	1	1	7	1	7	1	1	0	2	0	1	0	4	5			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr12:120960123C>T	ENST00000288532.6	-	2	286	c.246G>A	c.(244-246)atG>atA	p.M82I	COQ5_ENST00000445328.2_Missense_Mutation_p.M82I	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	82					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATATCATTCATCACATCAT	0.438																																						ENST00000288532.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20						c.(244-246)atG>atA		coenzyme Q5 homolog, methyltransferase (S. cerevisiae)							234	195	208					12																	120960123		2203	4300	6503	SO:0001583	missense	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120960123C>T	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"		"coenzyme Q5 homolog, methyltransferase (yeast)"				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.246G>A	12.37:g.120960123C>T	ENSP00000288532:p.Met82Ile					COQ5_ENST00000445328.2_Missense_Mutation_p.M82I	p.M82I	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN			2	286	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		82					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	c.246G>A	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	35	5.560069	0.96514	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000552443;ENST00000551769;ENST00000547736	T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5	5.91	5.91	0.95273	UbiE/COQ5 methyltransferase, conserved site (1);	0.139712	0.85682	D	0.000000	D	0.86364	0.5915	M	0.83692	2.655	0.43308	D	0.995314	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87160	0.2214	10	0.87932	D	0	.	19.905	0.97004	0.0:1.0:0.0:0.0	.	82;82	B4DP72;Q5HYK3	.;COQ5_HUMAN	I	82;82;82;1;1;56	ENSP00000288532:M82I;ENSP00000401798:M82I;ENSP00000449863:M1I;ENSP00000450001:M1I;ENSP00000449933:M56I	ENSP00000288532:M82I	M	-	3	0	COQ5	119444506	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.594000	0.82698	2.804000	0.96469	0.462000	0.41574	ATG		0.438	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		4	62	0	0	0	1	0	4	62					T	120960123	C	T	120960123	3	4	446	1	0	0	0	0	1	0	0	0	3748	826	29	3	761	3	COQ5	12	120960123	Missense_Mutation	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08	45066507	120960123	12891772	40	30690											
CTSG	1511	broad.mit.edu	37	chr14	25043995	25043995	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctctggatattgtgggcGcccagggtgacatttatatt	7	14	12	8	2	1	1	0	1	1	0	2	2	1	2	1	3	0	0	1	3	3	6	rs143803246		TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr14:25043995G>A	ENST00000216336.2	-	3	261	c.225C>T	c.(223-225)ggC>ggT	p.G75G		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	75	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.G75G(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TATTGTGGGCGCCCAGGGTGA	0.557																																						ENST00000216336.2																			1	Substitution - coding silent(1)	p.G75G(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(223-225)ggC>ggT		cathepsin G							139	122	128					14																	25043995		2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043995G>A	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.225C>T	14.37:g.25043995G>A							p.G75G	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	3	261	-			75			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.225C>T	CCDS9631.1																																																																																				0.557	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		5	60	0	0	0	1	0	5	60					A	25043995	G	A	25043995	2	1	446	1	0	0	0	0	0	0	0	1	4035	1074	38	1		1	CTSG	14	25043995	Silent	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08		25043995	82305545	41	30691											
PROX2	283571	broad.mit.edu	37	chr14	75329862	75329862	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggtcagctctttcctcaGaatctctagtgaagctggtg	7	13	10	11	0	4	2	2	1	2	1	6	2	5	2	2	2	2	2	2	2	3	2			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr14:75329862G>A	ENST00000445876.1	-	1	675	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	PROX2_ENST00000556489.2_Silent_p.L226L|PROX2_ENST00000556084.2_Silent_p.L226L			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	226					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TCTTTCCTCAGAATCTCTAGT	0.537																																						ENST00000556084.2																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(676-678)Ctg>Ttg		prospero homeobox 2							60	58	59					14																	75329862		1938	4141	6079	SO:0001819	synonymous_variant	283571				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:75329862G>A		CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"Homeoboxes / PROS class"	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.676C>T	14.37:g.75329862G>A						PROX2_ENST00000445876.1_Silent_p.L226L|PROX2_ENST00000556489.2_Silent_p.L226L	p.L226L	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	1	675	-			226					C9J5W1|Q8N9Q3	Silent	SNP	ENST00000445876.1	37	c.676C>T	CCDS45136.2																																																																																				0.537	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				22	36	0	0	0	1	0	22	36					A	75329862	G	A	75329862	2	1	446	1	0	0	0	0	0	0	0	1	12561	933	33	3		3	PROX2	14	75329862	Silent	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08	50285867	75329862	32019678	42	30692											
KIAA1409	57578	broad.mit.edu	37	chr14	94173180	94173180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccgaaagtggttgcagtGcactcagttcaaaatggccc	10	9	10	12	1	2	0	2	0	0	0	3	1	3	0	3	2	2	4	3	2	3	2			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr14:94173180G>A	ENST00000393151.2	+	50	7838	c.7838G>A	c.(7837-7839)tGc>tAc	p.C2613Y	UNC79_ENST00000555664.1_Missense_Mutation_p.C2574Y|UNC79_ENST00000553484.1_Missense_Mutation_p.C2635Y|UNC79_ENST00000256339.4_Missense_Mutation_p.C2436Y			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2613					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGGTTGCAGTGCACTCAGTTC	0.577																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7903-7905)tGc>tAc		unc-79 homolog (C. elegans)							71	74	73					14																	94173180		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94173180G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7838G>A	14.37:g.94173180G>A	ENSP00000376858:p.Cys2613Tyr					UNC79_ENST00000555664.1_Missense_Mutation_p.C2574Y|UNC79_ENST00000256339.4_Missense_Mutation_p.C2436Y|UNC79_ENST00000393151.2_Missense_Mutation_p.C2613Y	p.C2635Y			Q9P2D8	UNC79_HUMAN			51	8058	+			2613					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7904G>A		.	.	.	.	.	.	.	.	.	.	G	23.1	4.371215	0.82573	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.17854	2.25;2.27;2.25;2.25	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.35038	0.0918	L	0.44542	1.39	0.80722	D	1	P	0.52842	0.956	P	0.60541	0.876	T	0.00254	-1.1874	10	0.52906	T	0.07	-14.257	20.6634	0.99662	0.0:0.0:1.0:0.0	.	2635	C9JQL1	.	Y	2436;2574;2635;2613;2635	ENSP00000256339:C2436Y;ENSP00000450868:C2574Y;ENSP00000451360:C2635Y;ENSP00000376858:C2613Y	ENSP00000256339:C2436Y	C	+	2	0	KIAA1409	93242933	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	TGC		0.577	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		10	56	0	0	0	1	0	10	56					A	94173180	G	A	94173180	3	1	446	1	0	0	0	0	1	0	0	0	8230	1319	46	3	7493	3	KIAA1409	14	94173180	Missense_Mutation	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08	18843318	94173180	13176360	43	30693											
AHNAK2	113146	broad.mit.edu	37	chr14	105408302	105408302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catggagggaatgctcatgtCggcctccatctttggcgcag	7	10	13	11	2	2	0	1	0	1	0	4	2	3	2	2	4	1	2	2	4	1	1			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr14:105408302C>T	ENST00000333244.5	-	7	13605	c.13486G>A	c.(13486-13488)Gac>Aac	p.D4496N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4496						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D4496N(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGCTCATGTCGGCCTCCATC	0.587																																						ENST00000333244.5																			1	Substitution - Missense(1)	p.D4496N(1)	large_intestine(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(13486-13488)Gac>Aac		AHNAK nucleoprotein 2							150	158	155					14																	105408302		2042	4182	6224	SO:0001583	missense	113146					nucleus		g.chr14:105408302C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13486G>A	14.37:g.105408302C>T	ENSP00000353114:p.Asp4496Asn					AHNAK2_ENST00000557457.1_Intron	p.D4496N	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13605	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4496					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13486G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985420	0.35036	.	.	ENSG00000185567	ENST00000333244	T	0.02140	4.43	3.6	2.71	0.32032	.	0.467007	0.15203	U	0.274938	T	0.06781	0.0173	M	0.63208	1.945	0.09310	N	1	D	0.69078	0.997	P	0.58873	0.847	T	0.26292	-1.0107	10	0.38643	T	0.18	-12.3735	7.8826	0.29631	0.0:0.742:0.1614:0.0967	.	4496	Q8IVF2	AHNK2_HUMAN	N	4496	ENSP00000353114:D4496N	ENSP00000353114:D4496N	D	-	1	0	AHNAK2	104479347	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.064000	0.11636	0.493000	0.27837	-0.683000	0.03753	GAC		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		13	175	0	0	0	1	0	13	175					T	105408302	C	T	105408302	3	4	446	1	0	0	0	0	1	0	0	0	415	884	31	2	3905	2	AHNAK2	14	105408302	Missense_Mutation	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08	11235122	105408302	1941238	44	30694											
UACA	55075	broad.mit.edu	37	chr15	70960066	70960066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcaaagctgacaattgggGcgtattttaccttaatgcat	11	13	8	9	1	1	1	1	1	0	0	1	1	1	1	2	2	3	3	2	2	5	5			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr15:70960066G>A	ENST00000322954.6	-	16	3142	c.2957C>T	c.(2956-2958)gCc>gTc	p.A986V	UACA_ENST00000539319.1_Missense_Mutation_p.A877V|UACA_ENST00000560441.1_Missense_Mutation_p.A971V|UACA_ENST00000379983.2_Missense_Mutation_p.A973V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	986					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GACAATTGGGGCGTATTTTAC	0.403																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(2956-2958)gCc>gTc		uveal autoantigen with coiled-coil domains and ankyrin repeats							183	168	173					15																	70960066		2199	4298	6497	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70960066G>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2957C>T	15.37:g.70960066G>A	ENSP00000314556:p.Ala986Val					UACA_ENST00000560441.1_Missense_Mutation_p.A971V|UACA_ENST00000379983.2_Missense_Mutation_p.A973V|UACA_ENST00000539319.1_Missense_Mutation_p.A877V	p.A986V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	3142	-			986					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.2957C>T	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	9.114	1.007305	0.19199	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.34472	1.36;1.38;1.84	5.95	5.95	0.96441	.	0.090219	0.48286	D	0.000185	T	0.49508	0.1561	L	0.55481	1.735	0.37463	D	0.915283	P;P;P;P	0.47253	0.889;0.823;0.892;0.889	P;P;P;P	0.52217	0.693;0.497;0.497;0.542	T	0.35475	-0.9787	10	0.29301	T	0.29	-2.1448	20.3931	0.98965	0.0:0.0:1.0:0.0	.	877;986;986;973	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	V	986;973;877	ENSP00000314556:A986V;ENSP00000369319:A973V;ENSP00000438667:A877V	ENSP00000314556:A986V	A	-	2	0	UACA	68747120	1.000000	0.71417	0.022000	0.16811	0.126000	0.20510	5.695000	0.68279	2.824000	0.97209	0.655000	0.94253	GCC		0.403	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			4	120	0	0	0	1	0	4	120					A	70960066	G	A	70960066	3	1	446	1	0	0	0	0	1	0	0	0	16821	1203	42	3	1309	3	UACA	15	70960066	Missense_Mutation	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08		70960066	31571326	45	30695											
NTRK3	4916	broad.mit.edu	37	chr15	88678541	88678541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattgtgcagccagtgcagcGttggtggggggttgccacgc	5	9	17	10	2	0	0	0	0	0	0	0	0	0	0	2	4	5	4	2	4	0	3	rs145157285		TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr15:88678541G>A	ENST00000360948.2	-	9	1156	c.995C>T	c.(994-996)aCg>aTg	p.T332M	NTRK3_ENST00000558676.1_Missense_Mutation_p.T332M|NTRK3_ENST00000542733.2_Missense_Mutation_p.T234M|NTRK3_ENST00000355254.2_Missense_Mutation_p.T332M|NTRK3_ENST00000317501.3_Missense_Mutation_p.T332M|NTRK3_ENST00000394480.2_Missense_Mutation_p.T332M|NTRK3_ENST00000557856.1_Missense_Mutation_p.T332M|NTRK3_ENST00000540489.2_Missense_Mutation_p.T332M|NTRK3_ENST00000357724.2_Missense_Mutation_p.T332M	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	332	Ig-like C2-type 2.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T332M(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCAGTGCAGCGTTGGTGGGGG	0.602			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			G|||	1	0.000199681	0	0	5008	,	,		17971	0.001		0	False		,,,				2504	0					ENST00000394480.1				Dom	yes		15	15q25	4916	T	"neurotrophic tyrosine kinase, receptor, type 3"			"E, M"	ETV6		"congenital fibrosarcoma, Secretory breast "	ETV6/NTRK3(238)	3	Substitution - Missense(3)	p.T332M(3)	large_intestine(3)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(994-996)aCg>aTg		neurotrophic tyrosine kinase, receptor, type 3		G	MET/THR,MET/THR,MET/THR	0,4402		0,0,2201	72	74	73		995,995,995	5.3	0.6	15	dbSNP_134	73	2,8596	2.2+/-6.3	0,2,4297	yes	missense,missense,missense	NTRK3	NM_001007156.2,NM_001012338.2,NM_002530.3	81,81,81	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	332/613,332/840,332/826	88678541	2,12998	2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88678541G>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.995C>T	15.37:g.88678541G>A	ENSP00000354207:p.Thr332Met	TSP Lung(13;0.10)				NTRK3_ENST00000540489.2_Missense_Mutation_p.T332M|NTRK3_ENST00000355254.2_Missense_Mutation_p.T332M|NTRK3_ENST00000357724.2_Missense_Mutation_p.T332M|NTRK3_ENST00000558676.1_Missense_Mutation_p.T332M|NTRK3_ENST00000360948.2_Missense_Mutation_p.T332M|NTRK3_ENST00000317501.3_Missense_Mutation_p.T332M|NTRK3_ENST00000542733.2_Missense_Mutation_p.T234M|NTRK3_ENST00000557856.1_Missense_Mutation_p.T332M	p.T332M	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		10	1316	-			332			Ig-like C2-type 2.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.995C>T	CCDS32322.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.48	2.249763	0.39797	0.0	2.33E-4	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.28	5.28	0.74379	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.153551	0.56097	D	0.000027	D	0.82825	0.5121	M	0.90198	3.095	0.43819	D	0.996386	D;D;D;D;D;D	0.76494	0.998;0.999;0.998;0.998;0.999;0.999	P;D;D;P;D;D	0.67725	0.761;0.938;0.932;0.761;0.923;0.953	D	0.85907	0.1438	10	0.87932	D	0	.	11.3995	0.49862	0.0821:0.0:0.9179:0.0	.	234;332;332;332;332;332	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	M	332;332;332;332;234;332;332	ENSP00000377990:T332M;ENSP00000354207:T332M;ENSP00000350356:T332M;ENSP00000347397:T332M;ENSP00000437773:T234M;ENSP00000444673:T332M;ENSP00000318328:T332M	ENSP00000318328:T332M	T	-	2	0	NTRK3	86479545	0.678000	0.27586	0.632000	0.29296	0.219000	0.24729	2.064000	0.41432	2.454000	0.82982	0.563000	0.77884	ACG		0.602	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				24	37	0	0	0	1	0	24	37					A	88678541	G	A	88678541	3	1	446	1	0	0	0	0	1	0	0	0	10708	1145	40	1	1830	1	NTRK3	15	88678541	Missense_Mutation	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08	17718475	88678541	13852851	46	30696											
CNTNAP4	85445	broad.mit.edu	37	chr16	76555114	76555114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccacggagaacttagcGcggatgtatctttctttttt	7	16	8	10	3	2	1	0	0	2	1	3	3	3	2	2	2	2	1	2	2	3	7			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr16:76555114G>A	ENST00000476707.1	+	15	2591	c.2452G>A	c.(2452-2454)Gcg>Acg	p.A818T	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.A814T|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A766T|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A742T			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	815	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.A742T(1)|p.A814T(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGAACTTAGCGCGGATGTATC	0.383																																						ENST00000307431.8																			2	Substitution - Missense(2)	p.A742T(1)|p.A814T(1)	kidney(2)	breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(2440-2442)Gcg>Acg		contactin associated protein-like 4							232	217	222					16																	76555114		1812	4074	5886	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76555114G>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2452G>A	16.37:g.76555114G>A	ENSP00000417628:p.Ala818Thr					CNTNAP4_ENST00000476707.1_Missense_Mutation_p.A818T|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A742T|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A766T	p.A814T	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			17	2825	+			815			Laminin G-like 3.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.2440G>A		.	.	.	.	.	.	.	.	.	.	G	15.69	2.908768	0.52439	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.99	4.99	0.66335	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.41194	D	0.000930	T	0.56232	0.1971	.	.	.	0.42444	D	0.992727	D;D;D	0.62365	0.973;0.977;0.991	P;P;P	0.56960	0.701;0.556;0.81	T	0.59537	-0.7436	9	0.59425	D	0.04	.	13.8334	0.63395	0.076:0.0:0.924:0.0	.	742;818;815	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	T	814;766;742;818	ENSP00000306893:A814T;ENSP00000439733:A766T;ENSP00000418741:A742T;ENSP00000417628:A818T	ENSP00000306893:A814T	A	+	1	0	CNTNAP4	75112615	1.000000	0.71417	0.982000	0.44146	0.750000	0.42670	6.402000	0.73260	2.610000	0.88304	0.561000	0.74099	GCG		0.383	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		23	58	0	0	0	1	0	23	58					A	76555114	G	A	76555114	3	1	446	1	0	0	0	0	1	0	0	0	3649	1087	38	1	2518	1	CNTNAP4	16	76555114	Missense_Mutation	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08		76555114	13799639	47	30697											
NGFR	4804	broad.mit.edu	37	chr17	47583677	47583677	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcgtgacgttctccgaCgtggtgagcgcgaccgagcc	6	7	15	13	7	2	2	1	2	1	0	3	5	2	2	3	2	2	1	3	2	0	1			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr17:47583677C>T	ENST00000172229.3	+	3	350	c.225C>T	c.(223-225)gaC>gaT	p.D75D	NGFR_ENST00000504201.1_5'UTR|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	75					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CGTTCTCCGACGTGGTGAGCG	0.672																																						ENST00000172229.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17						c.(223-225)gaC>gaT		nerve growth factor receptor							25	28	27					17																	47583677		2190	4277	6467	SO:0001819	synonymous_variant	4804				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		g.chr17:47583677C>T	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"Tumor necrosis factor receptor superfamily", "CD molecules"	7809	protein-coding gene	gene with protein product	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	162010	"nerve growth factor receptor (TNFR superfamily, member 16)"			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.225C>T	17.37:g.47583677C>T						RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_5'UTR	p.D75D	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN			3	350	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		75					B2R961|B4E096	Silent	SNP	ENST00000172229.3	37	c.225C>T	CCDS11549.1																																																																																				0.672	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			5	51	0	0	0	1	0	5	51					T	47583677	C	T	47583677	2	4	446	1	0	0	0	0	0	0	0	1	10396	535	19	1		1	NGFR	17	47583677	Silent	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08		47583677	33611533	48	30698											
RRAS	6237	broad.mit.edu	37	chr19	50138860	50138860	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacgcaggggcagcccccGcccttcttcctgggggcact	5	6	14	16	2	1	0	0	0	1	0	2	1	2	1	4	5	1	3	4	5	0	2			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr19:50138860G>T	ENST00000246792.3	-	6	732	c.630C>A	c.(628-630)ggC>ggA	p.G210G		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	210					axon guidance (GO:0007411)|negative regulation of cell migration (GO:0030336)|positive regulation of angiogenesis (GO:0045766)|Ras protein signal transduction (GO:0007265)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GGCAGCCCCCGCCCTTCTTCC	0.617																																						ENST00000246792.3																			0				endometrium(1)|kidney(1)|lung(2)|ovary(2)	6						c.(628-630)ggC>ggA		related RAS viral (r-ras) oncogene homolog							67	73	71					19																	50138860		2203	4300	6503	SO:0001819	synonymous_variant	6237				axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chr19:50138860G>T		CCDS12774.1	19q13.33	2014-05-09				ENSG00000126458			10447	protein-coding gene	gene with protein product	"Oncogene RRAS"	165090				3098437	Standard	NM_006270		Approved		uc002pop.1	P10301		ENST00000246792.3:c.630C>A	19.37:g.50138860G>T							p.G210G	NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)	6	732	-			210					Q6FH12	Silent	SNP	ENST00000246792.3	37	c.630C>A	CCDS12774.1																																																																																				0.617	RRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465791.1	NM_006270		20	62	1	0	0.000229342	1	0.00024489	20	62					T	50138860	G	T	50138860	2	4	446	1	0	0	0	0	0	0	0	1	13676	1074	38	5		5	RRAS	19	50138860	Silent	SNP	G	TCGA-Y6-A9XI-01A-11D-A41K-08		50138860	8990123	49	30699											
RALY	22913	broad.mit.edu	37	chr20	32664877	32664877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcgccggcggcggcggCggtggtggtggcagcggtgg	1	5	26	9	7	0	0	0	0	0	0	0	0	0	0	1	12	1	1	1	12	0	0	rs539352667	byFrequency	TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr20:32664877C>T	ENST00000246194.3	+	8	1204	c.702C>T	c.(700-702)ggC>ggT	p.G234G	RALY_ENST00000375114.3_Silent_p.G218G	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	234	Epitope (recognized by BKRF1 antibodies).|Poly-Gly.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						gcggcggcggcggtggtggtg	0.667																																						ENST00000375114.3																			0				kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(652-654)ggC>ggT		RALY heterogeneous nuclear ribonucleoprotein							5	7	7					20																	32664877		2080	4086	6166	SO:0001819	synonymous_variant	22913					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr20:32664877C>T	AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"RNA binding motif (RRM) containing"	15921	protein-coding gene	gene with protein product		614663	"RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)", "RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.702C>T	20.37:g.32664877C>T						RALY_ENST00000246194.3_Silent_p.G234G	p.G218G	NM_007367.3	NP_031393.2	Q9UKM9	RALY_HUMAN			7	1232	+			234					Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Silent	SNP	ENST00000246194.3	37	c.654C>T	CCDS13230.1																																																																																				0.667	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1			3	11	0	0	0	1	0	3	11					T	32664877	C	T	32664877	2	4	446	1	0	0	0	0	0	0	0	1	13019	755	27	1		1	RALY	20	32664877	Silent	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08		32664877	30360643	50	30700											
KCNG1	3755	broad.mit.edu	37	chr20	49626483	49626483	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgcagcttgcccgcgcgCaggaaggtcaggatagtgcc	8	5	15	13	4	1	0	1	0	0	0	1	2	1	2	3	3	4	3	3	3	2	2			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr20:49626483C>T	ENST00000371571.4	-	2	678	c.393G>A	c.(391-393)ctG>ctA	p.L131L	KCNG1_ENST00000396017.3_Silent_p.L131L|RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	131					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TGCCCGCGCGCAGGAAGGTCA	0.642																																						ENST00000371571.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(391-393)ctG>ctA		potassium voltage-gated channel, subfamily G, member 1							37	35	36					20																	49626483		2203	4299	6502	SO:0001819	synonymous_variant	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626483C>T	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.393G>A	20.37:g.49626483C>T						KCNG1_ENST00000396017.3_Silent_p.L131L|RP5-955M13.4_ENST00000424566.1_RNA	p.L131L	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			2	678	-			131					A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	ENST00000371571.4	37	c.393G>A	CCDS13436.1																																																																																				0.642	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		16	25	0	0	0	1	0	16	25					T	49626483	C	T	49626483	2	4	446	1	0	0	0	0	0	0	0	1	8027	697	25	3		3	KCNG1	20	49626483	Silent	SNP	C	TCGA-Y6-A9XI-01A-11D-A41K-08	16961606	49626483	13399037	51	30701											
GRIK1	2897	broad.mit.edu	37	chr21	30953765	30953765	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgctgcatgagagctccaActccaaaccagaaactattt	13	10	6	12	0	0	2	0	1	0	2	2	3	2	2	3	0	6	3	3	0	4	3			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr21:30953765A>G	ENST00000399907.1	-	13	2303	c.1892T>C	c.(1891-1893)gTt>gCt	p.V631A	GRIK1_ENST00000389124.2_Missense_Mutation_p.V631A|GRIK1_ENST00000309434.7_Missense_Mutation_p.V633A|GRIK1_ENST00000327783.4_Missense_Mutation_p.V631A|GRIK1_ENST00000389125.3_Missense_Mutation_p.V616A|GRIK1_ENST00000535441.1_Missense_Mutation_p.V633A|GRIK1_ENST00000399913.1_Missense_Mutation_p.V631A|GRIK1_ENST00000399914.1_Missense_Mutation_p.V616A|GRIK1_ENST00000399909.1_Missense_Mutation_p.V616A	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	631					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GAGAGCTCCAACTCCAAACCA	0.478																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(1846-1848)gTt>gCt		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						119	108	112					21																	30953765		2203	4299	6502	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30953765A>G		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1892T>C	21.37:g.30953765A>G	ENSP00000382791:p.Val631Ala					GRIK1_ENST00000399909.1_Missense_Mutation_p.V616A|GRIK1_ENST00000399913.1_Missense_Mutation_p.V631A|GRIK1_ENST00000389124.2_Missense_Mutation_p.V631A|GRIK1_ENST00000327783.4_Missense_Mutation_p.V631A|GRIK1_ENST00000309434.7_Missense_Mutation_p.V633A|GRIK1_ENST00000535441.1_Missense_Mutation_p.V633A|GRIK1_ENST00000389125.3_Missense_Mutation_p.V616A|GRIK1_ENST00000399907.1_Missense_Mutation_p.V631A	p.V616A			P39086	GRIK1_HUMAN			12	2368	-			631					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.1847T>C	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.728504	0.89390	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5	5.5	5.5	0.81552	Ionotropic glutamate receptor (2);	0.054647	0.64402	D	0.000001	D	0.97629	0.9223	L	0.57130	1.785	0.80722	D	1	P;P;P;P;P	0.42584	0.56;0.56;0.784;0.56;0.504	P;P;P;P;B	0.51777	0.489;0.489;0.679;0.489;0.281	D	0.98450	1.0591	10	0.87932	D	0	.	15.4419	0.75190	1.0:0.0:0.0:0.0	.	616;631;616;631;616	E7EPY9;E9PD61;E7EPZ0;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	A	631;616;631;616;633;492;631;631;616;633	ENSP00000327687:V631A;ENSP00000373777:V616A;ENSP00000382797:V631A;ENSP00000382798:V616A;ENSP00000446326:V633A;ENSP00000373776:V631A;ENSP00000382791:V631A;ENSP00000382793:V616A;ENSP00000311646:V633A	ENSP00000311646:V633A	V	-	2	0	GRIK1	29875636	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.131000	0.94446	2.302000	0.77476	0.533000	0.62120	GTT		0.478	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			5	46	0	0	0	1	0	5	46					G	30953765	A	G	30953765	3	3	446	1	0	0	0	0	1	0	0	0	6773	43	2	4	1044	4	GRIK1	21	30953765	Missense_Mutation	SNP	A	TCGA-Y6-A9XI-01A-11D-A41K-08		30953765	17176130	52	30702											
IL10RB	3588	broad.mit.edu	37	chr21	34640775	34640775	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattctacagtgggagtcAcctgcttttgccaaagggaa	12	10	10	9	0	2	0	1	0	1	0	2	2	2	2	2	2	4	1	2	2	4	4			TCGA-Y6-A9XI-01A-11D-A41K-08	TCGA-Y6-A9XI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19093082-7365-4b1e-aeea-9a7203bf78a3	7720c12c-81ea-41fc-a13c-48fcc8d219b8	g.chr21:34640775A>G	ENST00000290200.2	+	2	234	c.126A>G	c.(124-126)tcA>tcG	p.S42S	IL10RB-AS1_ENST00000411998.1_RNA|AP000295.9_ENST00000433395.2_Missense_Mutation_p.H170R	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	42	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						AGTGGGAGTCACCTGCTTTTG	0.473																																					Melanoma(67;315 1275 21667 21943 44564)	ENST00000433395.2																			0											c.(508-510)cAc>cGc									99	90	93					21																	34640775		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr21:34640775A>G	U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"Interleukins and interleukin receptors", "CD molecules"	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.126A>G	21.37:g.34640775A>G						IL10RB_ENST00000290200.2_Silent_p.S42S	p.H170R							4	509	+								Q9BUU4	Missense_Mutation	SNP	ENST00000290200.2	37	c.509A>G	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	A	8.238	0.806223	0.16467	.	.	ENSG00000249624	ENST00000433395	.	.	.	5.35	-10.7	0.00240	.	.	.	.	.	T	0.31104	0.0786	.	.	.	0.32661	N	0.518024	.	.	.	.	.	.	T	0.31752	-0.9932	4	.	.	.	0.3002	7.8318	0.29347	0.155:0.0:0.4339:0.4111	.	.	.	.	R	170	.	.	H	+	2	0	AP000295.9	33562645	0.000000	0.05858	0.036000	0.18154	0.882000	0.50991	-1.652000	0.01988	-3.089000	0.00248	-1.407000	0.01130	CAC		0.473	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3			7	72	0	0	0	1	0	7	72					G	34640775	A	G	34640775	2	3	446	1	0	0	0	0	0	0	0	1	7621	146	6	4		4	IL10RB	21	34640775	Silent	SNP	A	TCGA-Y6-A9XI-01A-11D-A41K-08	3687010	34640775	13489120	53	30703											
SPEN	23013	broad.mit.edu	37	chr1	16260826	16260826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgtcctgaaagggcctgtGaatgttcttacggggccagt	9	10	13	9	2	1	2	0	2	1	0	2	2	2	2	3	3	2	1	3	3	4	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr1:16260826G>A	ENST00000375759.3	+	11	8295	c.8091G>A	c.(8089-8091)gtG>gtA	p.V2697V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2697	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			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)		AAGGGCCTGTGAATGTTCTTA	0.597																																						ENST00000375759.3																			0				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						c.(8089-8091)gtG>gtA		spen family transcriptional repressor							82	83	83					1																	16260826		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260826G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8091G>A	1.37:g.16260826G>A							p.V2697V	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		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)	11	8295	+		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)	2697			RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.8091G>A	CCDS164.1																																																																																				0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		11	79	0	0	0	1	0	11	79					A	16260826	G	A	16260826	2	1	447	1	0	0	0	0	0	0	0	1	15037	1277	45	3		3	SPEN	1	16260826	Silent	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		16260826	232989795	1	30704											
PABPC4	8761	broad.mit.edu	37	chr1	40028075	40028075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccctgcacatggaccGcaggctggggtgcctgggaa	6	6	15	14	1	0	0	0	0	0	0	0	2	0	2	5	5	3	3	5	5	1	0			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr1:40028075G>A	ENST00000372857.3	-	13	2426	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	PABPC4_ENST00000372856.3_Missense_Mutation_p.A532V|PABPC4_ENST00000372862.3_Missense_Mutation_p.A516V|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.A561V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	545					blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CACATGGACCGCAGGCTGGGG	0.582																																						ENST00000372857.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(1633-1635)gCg>gTg		poly(A) binding protein, cytoplasmic 4 (inducible form)							31	34	33					1																	40028075		2202	4298	6500	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40028075G>A	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"RNA binding motif (RRM) containing"	8557	protein-coding gene	gene with protein product		603407	"poly(A)-binding protein, cytoplasmic 4 (inducible form)"			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1634C>T	1.37:g.40028075G>A	ENSP00000361948:p.Ala545Val					PABPC4_ENST00000372856.3_Missense_Mutation_p.A532V|PABPC4_ENST00000372858.3_Missense_Mutation_p.A561V|PABPC4_ENST00000372862.3_Missense_Mutation_p.A516V	p.A545V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	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)		13	2426	-	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)	545					B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.1634C>T	CCDS438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.470775|5.470775	0.96274|0.96274	.|.	.|.	ENSG00000090621|ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856|ENST00000437136	T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Polyadenylate-binding protein/Hyperplastic disc protein (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79094|0.79094	0.4388|0.4388	M|M	0.81112|0.81112	2.525|2.525	0.80722|0.80722	D|D	1|1	D;D;P|.	0.55172|.	0.97;0.969;0.91|.	P;P;B|.	0.51895|.	0.584;0.683;0.313|.	T|T	0.79783|0.79783	-0.1658|-0.1658	10|5	0.72032|.	D|.	0.01|.	.|.	19.207|19.207	0.93734|0.93734	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	545;532;561|.	Q13310;Q13310-2;Q4VC03|.	PABP4_HUMAN;.;.|.	V|W	516;561;545;532|100	ENSP00000361953:A516V;ENSP00000361949:A561V;ENSP00000361948:A545V;ENSP00000361947:A532V|.	ENSP00000361947:A532V|.	A|R	-|-	2|1	0|2	PABPC4|PABPC4	39800662|39800662	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.992000|0.992000	0.81027|0.81027	9.869000|9.869000	0.99810|0.99810	2.541000|2.541000	0.85698|0.85698	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.582	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		4	68	0	0	0	1	0	4	68					A	40028075	G	A	40028075	3	1	447	1	0	0	0	0	1	0	0	0	11366	1087	38	1	312	1	PABPC4	1	40028075	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	23767249	40028075	209222546	2	30705											
MRPL37	51253	broad.mit.edu	37	chr1	54665938	54665938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcattggcgtccgggcccGcaaggcgggcgctagctggc	4	6	18	13	5	0	0	0	0	0	0	1	0	1	0	2	6	1	4	2	6	2	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr1:54665938G>A	ENST00000360840.5	+	1	99	c.22G>A	c.(22-24)Gca>Aca	p.A8T	MRPL37_ENST00000336230.6_5'UTR|MRPL37_ENST00000487096.1_Intron|MRPL37_ENST00000605337.1_Missense_Mutation_p.A8T|CYB5RL_ENST00000542737.1_5'Flank|RP11-446E24.4_ENST00000311841.7_5'Flank|CYB5RL_ENST00000537208.1_5'Flank	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	8					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GTCCGGGCCCGCAAGGCGGGC	0.701																																						ENST00000605337.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						c.(22-24)Gca>Aca		mitochondrial ribosomal protein L37							39	50	46					1																	54665938		2173	4259	6432	SO:0001583	missense	51253				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:54665938G>A	AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"Mitochondrial ribosomal proteins / large subunits"	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.22G>A	1.37:g.54665938G>A	ENSP00000354086:p.Ala8Thr					MRPL37_ENST00000360840.5_Missense_Mutation_p.A8T|MRPL37_ENST00000487096.1_Intron|MRPL37_ENST00000336230.6_5'UTR	p.A8T			Q9BZE1	RM37_HUMAN			1	70	+			8					Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	ENST00000360840.5	37	c.22G>A	CCDS589.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813113	0.50527	.	.	ENSG00000116221	ENST00000360840	T	0.33438	1.41	4.94	2.88	0.33553	.	0.542377	0.18563	N	0.137554	T	0.20901	0.0503	L	0.44542	1.39	0.45118	D	0.998133	P	0.45428	0.858	B	0.32583	0.148	T	0.07424	-1.0773	10	0.37606	T	0.19	-0.6289	11.5864	0.50920	0.0:0.0:0.6818:0.3182	.	8	Q9BZE1	RM37_HUMAN	T	8	ENSP00000354086:A8T	ENSP00000354086:A8T	A	+	1	0	MRPL37	54438526	0.355000	0.24921	0.910000	0.35882	0.366000	0.29705	1.790000	0.38734	1.404000	0.46819	0.655000	0.94253	GCA		0.701	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491		4	101	0	0	0	1	0	4	101					A	54665938	G	A	54665938	3	1	447	1	0	0	0	0	1	0	0	0	9800	1087	38	1	24	1	MRPL37	1	54665938	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	14637863	54665938	194584683	3	30706											
ILDR2	387597	broad.mit.edu	37	chr1	166904684	166904684	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggagacagagggagggtacCcggcctttgctgctttccct	6	9	14	12	2	0	2	0	0	0	2	1	4	1	3	3	4	3	3	3	4	1	3			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr1:166904684C>G	ENST00000271417.3	-	6	789	c.734G>C	c.(733-735)gGg>gCg	p.G245A	ILDR2_ENST00000469934.2_Missense_Mutation_p.G245A|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.G226A|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000528703.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	245					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGGAGGGTACCCGGCCTTTGC	0.582																																						ENST00000271417.3																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(733-735)gGg>gCg		immunoglobulin-like domain containing receptor 2							49	48	48					1																	166904684		2203	4300	6503	SO:0001583	missense	387597					integral to membrane		g.chr1:166904684C>G	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"LISCH-like"		"chromosome 1 open reading frame 32"	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.734G>C	1.37:g.166904684C>G	ENSP00000271417:p.Gly245Ala					ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.G226A|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.G245A	p.G245A	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN			6	789	-			245						Missense_Mutation	SNP	ENST00000271417.3	37	c.734G>C	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825473	0.90955	.	.	ENSG00000143195	ENST00000271417;ENST00000469934;ENST00000529071	T;T;T	0.60299	0.23;0.31;0.2	5.63	5.63	0.86233	.	0.052562	0.85682	D	0.000000	T	0.72961	0.3526	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74771	-0.3552	10	0.72032	D	0.01	.	19.7433	0.96241	0.0:1.0:0.0:0.0	.	245	Q71H61	ILDR2_HUMAN	A	245;245;226	ENSP00000271417:G245A;ENSP00000437008:G245A;ENSP00000436882:G226A	ENSP00000271417:G245A	G	-	2	0	ILDR2	165171308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.277000	0.72608	2.662000	0.90505	0.556000	0.70494	GGG		0.582	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		10	25	0	0	0	1	0	10	25					G	166904684	C	G	166904684	3	3	447	1	0	0	0	0	1	0	0	0	7710	623	22	5	1205	5	ILDR2	1	166904684	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	112238746	166904684	82345937	4	30707											
LTBP1	4052	broad.mit.edu	37	chr2	33487888	33487888	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgcatccacagtttccaGgtagcctgtgttgatctgtg	7	14	10	10	0	2	1	0	1	2	0	4	1	4	1	3	1	2	4	3	1	1	3			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr2:33487888G>T	ENST00000404816.2	+	14	2871	c.2518G>T	c.(2518-2520)Gta>Tta	p.V840L	LTBP1_ENST00000390003.4_Missense_Mutation_p.G514C|LTBP1_ENST00000418533.2_Splice_Site_p.V514L|LTBP1_ENST00000354476.3_Missense_Mutation_p.G840C|LTBP1_ENST00000407925.1_Splice_Site_p.V514L|LTBP1_ENST00000404525.1_Splice_Site_p.V461L|LTBP1_ENST00000402934.1_Splice_Site_p.V461L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	840					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.G840S(1)		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)				ACAGTTTCCAGGTAGCCTGTG	0.403																																						ENST00000354476.3																			1	Substitution - Missense(1)	p.G840S(1)	lung(1)	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						c.(2518-2520)Ggt>Tgt		latent transforming growth factor beta binding protein 1							70	69	70					2																	33487888		2203	4300	6503	SO:0001630	splice_region_variant	4052				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	g.chr2:33487888G>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2518+1G>T	2.37:g.33487888G>T						LTBP1_ENST00000407925.1_Splice_Site_p.V514_splice|LTBP1_ENST00000418533.2_Splice_Site_p.V514_splice|LTBP1_ENST00000402934.1_Splice_Site_p.V461_splice|LTBP1_ENST00000390003.4_Missense_Mutation_p.G514C|LTBP1_ENST00000404816.2_Splice_Site_p.V840_splice|LTBP1_ENST00000404525.1_Splice_Site_p.V461_splice	p.G840C	NM_206943.2	NP_996826.2	Q14766	LTBP1_HUMAN			14	2541	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	839					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2518G>T	CCDS33177.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.81|16.81	3.226691|3.226691	0.58668|0.58668	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000354476;ENST00000390003;ENST00000468091|ENST00000404816;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303	T;T;T|T;T;T;T;T;T	0.80566|0.80566	-1.39;-1.35;0.29|-1.39;-1.27;-1.3;-1.28;-1.28;1.74	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|.	.|.	.|.	.|.	T|T	0.76630|0.76630	0.4014|0.4014	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	D;D|B;B;B;B	0.89917|0.29988	1.0;1.0|0.05;0.264;0.004;0.024	D;D|B;B;B;B	0.97110|0.31869	1.0;1.0|0.043;0.137;0.005;0.058	T|T	0.72593|0.72593	-0.4246|-0.4246	9|9	0.59425|0.22706	D|T	0.04|0.39	.|.	17.7368|17.7368	0.88396|0.88396	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	514;840|840;514;461;514	Q14766-5;Q14766-4|Q14766;E7EV71;Q14766-3;Q14766-2	.;.|LTBP1_HUMAN;.;.;.	C|L	840;514;157|840;514;461;461;514;168	ENSP00000346467:G840C;ENSP00000374653:G514C;ENSP00000417591:G157C|ENSP00000386043:V840L;ENSP00000393057:V514L;ENSP00000384373:V461L;ENSP00000385359:V461L;ENSP00000384091:V514L;ENSP00000415412:V168L	ENSP00000346467:G840C|ENSP00000384373:V461L	G|V	+|+	1|1	0|0	LTBP1|LTBP1	33341392|33341392	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.890000|0.890000	0.51754|0.51754	7.757000|7.757000	0.85209|0.85209	2.425000|2.425000	0.82216|0.82216	0.561000|0.561000	0.74099|0.74099	GGT|GTA		0.403	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	Missense_Mutation	10	18	1	0	3.86212e-05	1	4.12249e-05	10	18					T	33487888	G	T	33487888	5	4	447	1	0	0	0	0	0	0	1	0	9073	1014	35	5	2627	5	LTBP1	2	33487888	Splice_Site	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		33487888	209711485	5	30708											
CKAP2L	150468	broad.mit.edu	37	chr2	113514462	113514462	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattattcataaagtctatAcatttaccatttccttgatc	13	18	2	8	0	2	1	1	1	1	0	4	1	3	1	2	0	2	0	2	0	7	10			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr2:113514462A>G	ENST00000302450.6	-	4	564	c.486T>C	c.(484-486)tgT>tgC	p.C162C	CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000541405.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	162						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TAAAGTCTATACATTTACCAT	0.343																																						ENST00000302450.6																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(484-486)tgT>tgC		cytoskeleton associated protein 2-like							72	76	74					2																	113514462		2203	4300	6503	SO:0001819	synonymous_variant	150468					centrosome		g.chr2:113514462A>G	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.486T>C	2.37:g.113514462A>G						CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000541405.1_5'UTR	p.C162C	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN			4	564	-			162					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Silent	SNP	ENST00000302450.6	37	c.486T>C	CCDS2100.1																																																																																				0.343	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		14	35	0	0	0	1	0	14	35					G	113514462	A	G	113514462	2	3	447	1	0	0	0	0	0	0	0	1	3443	389	14	4		4	CKAP2L	2	113514462	Silent	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08	80026574	113514462	129684911	6	30709											
MAP2	4133	broad.mit.edu	37	chr2	210561046	210561046	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgacgactccatcatggaCgctgacagcctctgggtgga	9	9	12	11	2	2	2	1	2	1	0	3	5	3	4	2	3	1	1	2	3	0	1	rs571107524		TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr2:210561046C>T	ENST00000360351.4	+	7	4658	c.4152C>T	c.(4150-4152)gaC>gaT	p.D1384D	MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.D1380D	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1384					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			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)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CCATCATGGACGCTGACAGCC	0.388																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				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						c.(4150-4152)gaC>gaT		microtubule-associated protein 2	Estramustine(DB01196)						54	61	58					2																	210561046		2202	4300	6502	SO:0001819	synonymous_variant	4133				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	g.chr2:210561046C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4152C>T	2.37:g.210561046C>T						MAP2_ENST00000447185.1_Silent_p.D1380D|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	p.D1384D	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		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)	7	4658	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1384					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.4152C>T	CCDS2384.1																																																																																				0.388	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		22	51	0	0	0	1	0	22	51					T	210561046	C	T	210561046	2	4	447	1	0	0	0	0	0	0	0	1	9235	535	19	1		1	MAP2	2	210561046	Silent	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	97046584	210561046	32638327	7	30710											
OR6B2	389090	broad.mit.edu	37	chr2	240969799	240969799	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccctggggccgtggggagGcccaccaggatgaaggtgct	7	5	18	11	1	0	1	0	1	0	0	0	3	0	3	4	7	2	1	4	7	1	0			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr2:240969799G>A	ENST00000402971.2	-	1	107	c.48C>T	c.(46-48)ggC>ggT	p.G16G		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCGTGGGGAGGCCCACCAGGA	0.567																																						ENST00000402971.2																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15						c.(46-48)ggC>ggT		olfactory receptor, family 6, subfamily B, member 2							41	45	44					2																	240969799		2040	4196	6236	SO:0001819	synonymous_variant	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240969799G>A		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"GPCR / Class A : Olfactory receptors"	15041	protein-coding gene	gene with protein product			"olfactory receptor, family 6, subfamily B, member 2 pseudogene"	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.48C>T	2.37:g.240969799G>A							p.G16G	NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN		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)	1	107	-		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)	16					B2RPR3|Q8NGW0	Silent	SNP	ENST00000402971.2	37	c.48C>T	CCDS46559.1																																																																																				0.567	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		11	31	0	0	0	1	0	11	31					A	240969799	G	A	240969799	2	1	447	1	0	0	0	0	0	0	0	1	11188	1190	42	3		3	OR6B2	2	240969799	Silent	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	30408753	240969799	2229574	8	30711											
PLD1	5337	broad.mit.edu	37	chr3	171362776	171362776	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcgaaccctggcagaaGtggtatcacgacatataccc	11	9	8	13	2	1	1	1	0	0	1	3	3	2	1	3	2	2	2	3	2	5	4			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr3:171362776G>T	ENST00000351298.4	-	22	2593	c.2467C>A	c.(2467-2469)Ctt>Att	p.L823I	PLD1_ENST00000356327.5_Missense_Mutation_p.L785I|PLD1_ENST00000340989.4_Missense_Mutation_p.L823I|PLD1_ENST00000342215.6_3'UTR	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	823	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CCTGGCAGAAGTGGTATCACG	0.423																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(2353-2355)Ctt>Att		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						122	120	121					3																	171362776		2203	4300	6503	SO:0001583	missense	5337				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	g.chr3:171362776G>T	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2467C>A	3.37:g.171362776G>T	ENSP00000342793:p.Leu823Ile					PLD1_ENST00000351298.4_Missense_Mutation_p.L823I|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000340989.4_Missense_Mutation_p.L823I	p.L785I	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		21	2423	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		823			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.2353C>A	CCDS3216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.23|16.23	3.065201|3.065201	0.55432|0.55432	.|.	.|.	ENSG00000075651|ENSG00000075651	ENST00000446289|ENST00000356327;ENST00000351298;ENST00000340989	.|T;T;T	.|0.27890	.|1.64;1.64;1.64	5.72|5.72	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54743|0.54743	0.1877|0.1877	M|M	0.84433|0.84433	2.695|2.695	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.56521	.|0.941;0.613;0.976	.|P;P;D	.|0.65233	.|0.773;0.75;0.933	T|T	0.59064|0.59064	-0.7524|-0.7524	5|10	.|0.52906	.|T	.|0.07	-16.3211|-16.3211	9.9442|9.9442	0.41598|0.41598	0.1564:0.0:0.8436:0.0|0.1564:0.0:0.8436:0.0	.|.	.|823;808;823	.|Q13393-4;Q59EA4;Q13393	.|.;.;PLD1_HUMAN	Q|I	85|785;823;823	.|ENSP00000348681:L785I;ENSP00000342793:L823I;ENSP00000340326:L823I	.|ENSP00000340326:L823I	H|L	-|-	3|1	2|0	PLD1|PLD1	172845470|172845470	1.000000|1.000000	0.71417|0.71417	0.165000|0.165000	0.22776|0.22776	0.226000|0.226000	0.24999|0.24999	6.289000|6.289000	0.72696|0.72696	1.436000|1.436000	0.47453|0.47453	0.655000|0.655000	0.94253|0.94253	CAC|CTT		0.423	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		5	139	1	0	0.000602214	1	0.000628685	5	139					T	171362776	G	T	171362776	3	4	447	1	0	0	0	0	1	0	0	0	12045	1029	36	5	781	5	PLD1	3	171362776	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		171362776	26659654	9	30712											
LRRC15	131578	broad.mit.edu	37	chr3	194081558	194081558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctgagatattgaggaacGgggactcattgagttcagtg	10	10	16	5	1	2	3	2	3	0	1	2	6	2	5	0	4	1	2	0	4	2	4	rs141605466		TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr3:194081558G>T	ENST00000347624.3	-	2	300	c.215C>A	c.(214-216)cCg>cAg	p.P72Q	LRRC15_ENST00000439944.2_Missense_Mutation_p.P78Q|LRRC15_ENST00000428839.1_Missense_Mutation_p.P78Q	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	72					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)	p.P72L(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		ATTGAGGAACGGGGACTCATT	0.597																																						ENST00000347624.3																			1	Substitution - Missense(1)	p.P72L(1)	central_nervous_system(1)	biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(214-216)cCg>cAg		leucine rich repeat containing 15							96	73	80					3																	194081558		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194081558G>T	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.215C>A	3.37:g.194081558G>T	ENSP00000306276:p.Pro72Gln					LRRC15_ENST00000439944.2_Missense_Mutation_p.P78Q|LRRC15_ENST00000428839.1_Missense_Mutation_p.P78Q	p.P72Q	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	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)	2	300	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		72					Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.215C>A	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	G	5.765	0.325569	0.10900	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	D;T;T	0.89810	-2.57;3.65;3.65	5.04	3.22	0.36961	.	0.473995	0.21469	N	0.074035	T	0.74876	0.3774	N	0.03253	-0.375	0.09310	N	1	P;P	0.39157	0.579;0.662	B;B	0.39299	0.296;0.196	T	0.66586	-0.5886	10	0.32370	T	0.25	.	10.2547	0.43390	0.0717:0.0:0.7917:0.1366	.	72;78	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	Q	72;78;78	ENSP00000306276:P72Q;ENSP00000389128:P78Q;ENSP00000413707:P78Q	ENSP00000306276:P72Q	P	-	2	0	LRRC15	195562853	0.494000	0.26043	0.037000	0.18230	0.819000	0.46315	3.414000	0.52693	0.765000	0.33221	0.462000	0.41574	CCG		0.597	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			3	43	1	0	0.004672	1	0.00477247	3	43					T	194081558	G	T	194081558	3	4	447	1	0	0	0	0	1	0	0	0	8970	1116	39	5	1534	5	LRRC15	3	194081558	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	22718782	194081558	3940872	10	30713											
PRSS12	8492	broad.mit.edu	37	chr4	119204214	119204214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaaactcctctggtaccaGagtatgataatctccaaccc	12	10	5	14	0	3	2	1	1	2	1	5	2	4	2	4	1	3	2	4	1	5	3			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr4:119204214G>C	ENST00000296498.3	-	12	2374	c.2092C>G	c.(2092-2094)Ctg>Gtg	p.L698V	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	698	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCTGGTACCAGAGTATGATAA	0.453																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(2092-2094)Ctg>Gtg		protease, serine, 12 (neurotrypsin, motopsin)							147	155	152					4																	119204214		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119204214G>C	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2092C>G	4.37:g.119204214G>C	ENSP00000296498:p.Leu698Val					PRSS12_ENST00000510903.1_5'UTR	p.L698V	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			12	2374	-			698			Peptidase S1.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.2092C>G	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088527	0.36855	.	.	ENSG00000164099	ENST00000296498	D	0.89123	-2.47	5.88	1.22	0.21188	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.074425	0.56097	D	0.000039	D	0.86012	0.5831	N	0.16098	0.37	0.38818	D	0.955568	D	0.76494	0.999	D	0.72075	0.976	T	0.82880	-0.0238	10	0.49607	T	0.09	.	6.5315	0.22330	0.3732:0.1156:0.5111:0.0	.	698	P56730	NETR_HUMAN	V	698	ENSP00000296498:L698V	ENSP00000296498:L698V	L	-	1	2	PRSS12	119423662	0.305000	0.24481	0.985000	0.45067	0.532000	0.34746	0.672000	0.25187	0.108000	0.17862	0.591000	0.81541	CTG		0.453	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			14	167	0	0	0	1	0	14	167					C	119204214	G	C	119204214	3	2	447	1	0	0	0	0	1	0	0	0	12615	933	33	5	543	5	PRSS12	4	119204214	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		119204214	71950062	11	30714											
DCHS2	54798	broad.mit.edu	37	chr4	155219050	155219050	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttatacaggtggtggctgAaggaaatctttacatcttct	10	15	9	7	0	3	1	0	1	3	0	3	2	3	2	0	4	2	1	0	4	5	6			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr4:155219050A>G	ENST00000357232.4	-	18	5050	c.5051T>C	c.(5050-5052)tTc>tCc	p.F1684S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1684	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		GTGGTGGCTGAAGGAAATCTT	0.443																																						ENST00000357232.3																			0				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						c.(5050-5052)tTc>tCc		dachsous cadherin-related 2							80	79	79					4																	155219050		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219050A>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5051T>C	4.37:g.155219050A>G	ENSP00000349768:p.Phe1684Ser						p.F1684S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	5050	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1684			Cadherin 14.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.5051T>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653957	0.88056	.	.	ENSG00000197410	ENST00000357232	T	0.53857	0.6	5.82	5.82	0.92795	Cadherin (1);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.76083	0.3938	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80417	-0.1391	10	0.87932	D	0	.	16.1966	0.82029	1.0:0.0:0.0:0.0	.	1684	Q6V1P9	PCD23_HUMAN	S	1684	ENSP00000349768:F1684S	ENSP00000349768:F1684S	F	-	2	0	DCHS2	155438500	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.171000	0.71926	2.232000	0.73038	0.528000	0.53228	TTC		0.443	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		14	27	0	0	0	1	0	14	27					G	155219050	A	G	155219050	3	3	447	1	0	0	0	0	1	0	0	0	4288	246	9	4	3731	4	DCHS2	4	155219050	Missense_Mutation	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08	36014836	155219050	35935226	12	30715											
SPEF2	79925	broad.mit.edu	37	chr5	35712921	35712921	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaattttgtttagaagccccGcatggtaagcaagaatctct	12	12	9	8	1	1	2	0	0	1	2	2	3	1	2	2	1	2	4	2	1	6	5	rs377415900		TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr5:35712921G>A	ENST00000356031.3	+	20	3001	c.2847G>A	c.(2845-2847)ccG>ccA	p.P949P	SPEF2_ENST00000440995.2_Silent_p.P944P|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	949					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGAAGCCCCGCATGGTAAGC	0.368																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(2830-2832)ccG>ccA		sperm flagellar 2		G		1,3651		0,1,1825	75	75	75		2847	-4.2	0	5		75	0,8156		0,0,4078	no	coding-synonymous	SPEF2	NM_024867.3		0,1,5903	AA,AG,GG		0.0,0.0274,0.0085		949/1823	35712921	1,11807	1826	4078	5904	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35712921G>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2847G>A	5.37:g.35712921G>A						SPEF2_ENST00000356031.3_Silent_p.P949P|CTD-2113L7.1_ENST00000510433.1_RNA	p.P944P			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		20	2832	+	all_lung(31;7.56e-05)		949					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.2832G>A	CCDS43309.1																																																																																				0.368	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		5	15	0	0	0	1	0	5	15					A	35712921	G	A	35712921	2	1	447	1	0	0	0	0	0	0	0	1	15034	1074	38	1		1	SPEF2	5	35712921	Silent	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		35712921	145202339	13	30716											
GDNF	2668	broad.mit.edu	37	chr5	37834807	37834807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcggtcttcggcgggcGcctcgggaggcctcttaccg	3	7	18	13	6	2	0	0	0	2	0	4	2	2	2	3	6	2	0	3	6	1	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr5:37834807G>A	ENST00000326524.2	-	2	291	c.92C>T	c.(91-93)gCg>gTg	p.A31V	GDNF_ENST00000515058.1_Intron|GDNF_ENST00000381826.4_Intron|GDNF_ENST00000344622.4_Intron|GDNF_ENST00000427982.1_Missense_Mutation_p.A48V	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	31					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					TTCGGCGGGCGCCTCGGGAGG	0.706																																						ENST00000326524.2																			0				NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15						c.(91-93)gCg>gTg		glial cell derived neurotrophic factor							10	13	12					5																	37834807		1957	3943	5900	SO:0001583	missense	2668				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	g.chr5:37834807G>A		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"Endogenous ligands"	4232	protein-coding gene	gene with protein product	"astrocyte-derived trophic factor", "glial cell line derived neurotrophic factor", "glial derived neurotrophic factor"	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.92C>T	5.37:g.37834807G>A	ENSP00000317145:p.Ala31Val					GDNF_ENST00000427982.1_Missense_Mutation_p.A48V|GDNF_ENST00000515058.1_Intron|GDNF_ENST00000344622.4_Intron|GDNF_ENST00000381826.4_Intron	p.A31V	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN			2	291	-	all_lung(31;0.00118)		31					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	ENST00000326524.2	37	c.92C>T	CCDS3922.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392562	0.62066	.	.	ENSG00000168621	ENST00000326524;ENST00000427982	D;D	0.93547	-3.23;-3.24	5.84	4.02	0.46733	.	0.344943	0.32372	N	0.006183	D	0.84579	0.5503	L	0.36672	1.1	0.80722	D	1	B;P	0.35307	0.081;0.494	B;B	0.24848	0.007;0.056	T	0.79344	-0.1842	10	0.26408	T	0.33	5.7028	3.7445	0.08542	0.0931:0.2521:0.5195:0.1352	.	31;48	P39905;P39905-3	GDNF_HUMAN;.	V	31;48	ENSP00000317145:A31V;ENSP00000409007:A48V	ENSP00000317145:A31V	A	-	2	0	GDNF	37870564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.507000	0.35758	1.472000	0.48140	0.655000	0.94253	GCG		0.706	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		9	12	0	0	0	1	0	9	12					A	37834807	G	A	37834807	3	1	447	1	0	0	0	0	1	0	0	0	6322	1087	38	1	550	1	GDNF	5	37834807	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	2121886	37834807	143080453	14	30717											
ADAMTS6	11174	broad.mit.edu	37	chr5	64766898	64766898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttcacagtaaagctgaGaaatgctccattttgatcaa	14	14	6	7	0	2	2	2	2	0	1	3	3	3	2	1	0	2	3	1	0	4	5			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr5:64766898G>T	ENST00000536360.1	-	3	982	c.169C>A	c.(169-171)Ctc>Atc	p.L57I				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	57						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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)		GTAAAGCTGAGAAATGCTCCA	0.378																																						ENST00000536360.1																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18						c.(169-171)Ctc>Atc		ADAM metallopeptidase with thrombospondin type 1 motif, 6							83	83	83					5																	64766898		2203	4299	6502	SO:0001583	missense	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64766898G>T	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.169C>A	5.37:g.64766898G>T	ENSP00000440995:p.Leu57Ile						p.L57I			Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	3	982	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	57					Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000536360.1	37	c.169C>A		.	.	.	.	.	.	.	.	.	.	G	17.16	3.318913	0.60524	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	T;T;T	0.06933	3.24;3.24;3.24	5.53	5.53	0.82687	Peptidase M12B, propeptide (1);	0.119197	0.64402	D	0.000015	T	0.15305	0.0369	L	0.52266	1.64	0.45076	D	0.998092	B	0.20988	0.05	B	0.39617	0.305	T	0.05920	-1.0856	10	0.36615	T	0.2	.	15.3206	0.74117	0.0:0.1394:0.8606:0.0	.	57	Q9UKP5	ATS6_HUMAN	I	57	ENSP00000370443:L57I;ENSP00000423551:L57I;ENSP00000440995:L57I	ENSP00000261306:L57I	L	-	1	0	ADAMTS6	64802654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.631000	0.61304	2.769000	0.95229	0.478000	0.44815	CTC		0.378	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		9	50	1	0	3.09899e-07	1	3.38395e-07	9	50					T	64766898	G	T	64766898	3	4	447	1	0	0	0	0	1	0	0	0	270	942	33	5	3276	5	ADAMTS6	5	64766898	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	26932091	64766898	116148362	15	30718											
SRP19	6728	broad.mit.edu	37	chr5	112198210	112198210	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattgtctatggcaggtttaTttgtatctatcctgcttatt	7	21	7	6	0	2	0	0	0	2	0	3	0	3	0	1	2	1	4	1	2	6	10			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr5:112198210T>C	ENST00000505459.1	+	2	202	c.47T>C	c.(46-48)aTt>aCt	p.I16T	SRP19_ENST00000282999.3_Missense_Mutation_p.I16T|CTC-487M23.8_ENST00000506997.1_Missense_Mutation_p.I16T|SRP19_ENST00000515463.1_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|CTC-554D6.1_ENST00000520401.1_Silent_p.Y87Y	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN	signal recognition particle 19kDa	16					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|large_intestine(1)	3		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)		GGCAGGTTTATTTGTATCTAT	0.458																																						ENST00000505459.1																			0				breast(1)|cervix(1)|large_intestine(1)	3						c.(46-48)aTt>aCt		signal recognition particle 19kDa							56	57	56					5																	112198210		2202	4300	6502	SO:0001583	missense	6728				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding	g.chr5:112198210T>C		CCDS4108.1, CCDS56375.1, CCDS56376.1, CCDS75286.1	5q21-q22	2008-07-18	2002-08-29		ENSG00000153037	ENSG00000153037			11300	protein-coding gene	gene with protein product		182175	"signal recognition particle 19kD"			2460823	Standard	NM_003135		Approved		uc011cvu.2	P09132	OTTHUMG00000128805	ENST00000505459.1:c.47T>C	5.37:g.112198210T>C	ENSP00000424870:p.Ile16Thr					SRP19_ENST00000515463.1_Intron|SRP19_ENST00000512790.1_3'UTR|CTC-554D6.1_ENST00000520401.1_Silent_p.Y87Y|SRP19_ENST00000282999.3_Missense_Mutation_p.I16T	p.I16T	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN		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)	2	202	+		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)	16					B2R4E9|D6RCQ5|Q05D77|Q96FG6	Missense_Mutation	SNP	ENST00000505459.1	37	c.47T>C	CCDS4108.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.595264	0.86953	.	.	ENSG00000153037	ENST00000505459;ENST00000282999	T;T	0.45276	0.9;0.93	5.37	5.37	0.77165	.	0.281066	0.37483	N	0.002071	T	0.58991	0.2161	M	0.68593	2.085	0.80722	D	1	D;B	0.69078	0.997;0.421	D;B	0.67900	0.954;0.436	T	0.56601	-0.7952	10	0.30078	T	0.28	-6.6918	13.1931	0.59722	0.0:0.0:0.0:1.0	.	16;16	P09132;Q05D77	SRP19_HUMAN;.	T	16	ENSP00000424870:I16T;ENSP00000282999:I16T	ENSP00000282999:I16T	I	+	2	0	SRP19	112226109	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	6.340000	0.72973	2.164000	0.68074	0.533000	0.62120	ATT		0.458	SRP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250737.3	NM_003135		5	19	0	0	0	1	0	5	19					C	112198210	T	C	112198210	3	2	447	1	0	0	0	0	1	0	0	0	15153	1493	52	4	53	4	SRP19	5	112198210	Missense_Mutation	SNP	T	TCGA-YJ-A8SW-01A-11D-A377-08	47431312	112198210	68717050	16	30719											
TMEM173	340061	broad.mit.edu	37	chr5	138861145	138861145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagggaggctaggtggaGcaccaggtaccggagagtgt	9	6	18	8	1	0	1	0	0	0	1	0	4	0	3	2	6	3	4	2	6	2	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr5:138861145G>T	ENST00000330794.4	-	3	478	c.145C>A	c.(145-147)Ctc>Atc	p.L49I	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	49					activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCTAGGTGGAGCACCAGGTAC	0.632																																						ENST00000330794.4																			0				endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(145-147)Ctc>Atc		transmembrane protein 173							54	57	56					5																	138861145		2203	4300	6503	SO:0001583	missense	340061				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	g.chr5:138861145G>T		CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.145C>A	5.37:g.138861145G>T	ENSP00000331288:p.Leu49Ile					TMEM173_ENST00000511850.1_5'UTR	p.L49I	NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		3	478	-			49					A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Missense_Mutation	SNP	ENST00000330794.4	37	c.145C>A	CCDS4215.1	.	.	.	.	.	.	.	.	.	.	G	2.993	-0.207708	0.06180	.	.	ENSG00000184584	ENST00000330794;ENST00000510817	T;T	0.74737	-0.87;-0.87	5.71	-2.65	0.06095	.	0.783624	0.11709	N	0.537061	T	0.61464	0.2349	L	0.50919	1.6	0.09310	N	1	B	0.14012	0.009	B	0.15870	0.014	T	0.46233	-0.9206	10	0.21014	T	0.42	-7.9042	7.501	0.27518	0.5657:0.0:0.3013:0.133	.	49	Q86WV6	TM173_HUMAN	I	49	ENSP00000331288:L49I;ENSP00000427455:L49I	ENSP00000331288:L49I	L	-	1	0	TMEM173	138841329	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.524000	0.06222	-0.413000	0.07507	-1.595000	0.00837	CTC		0.632	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	NM_198282		25	20	1	0	1.64293e-13	1	1.81487e-13	25	20					T	138861145	G	T	138861145	3	4	447	1	0	0	0	0	1	0	0	0	16086	971	34	5	1018	5	TMEM173	5	138861145	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	26662935	138861145	42054115	17	30720											
FAT2	2196	broad.mit.edu	37	chr5	150908872	150908872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcacgtcactgagggaagagGagctcttccggctgcactca	9	8	12	12	2	4	2	3	1	1	1	5	4	5	4	1	3	2	3	1	3	1	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr5:150908872G>T	ENST00000261800.5	-	14	9905	c.9893C>A	c.(9892-9894)tCc>tAc	p.S3298Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3298	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.|Poly-Ser.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			GAGGGAAGAGGAGCTCTTCCG	0.512																																						ENST00000261800.5																			0				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						c.(9892-9894)tCc>tAc		FAT atypical cadherin 2							152	140	144					5																	150908872		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150908872G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9893C>A	5.37:g.150908872G>T	ENSP00000261800:p.Ser3298Tyr						p.S3298Y	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	9905	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3298			Cadherin 29.|Poly-Ser.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.9893C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171872	0.78452	.	.	ENSG00000086570	ENST00000261800	T	0.55413	0.52	5.78	5.78	0.91487	Cadherin (4);Cadherin-like (1);	0.188965	0.38164	N	0.001787	T	0.74199	0.3685	M	0.76838	2.35	0.39541	D	0.968821	D	0.69078	0.997	D	0.69824	0.966	T	0.74147	-0.3759	10	0.44086	T	0.13	.	20.0222	0.97508	0.0:0.0:1.0:0.0	.	3298	Q9NYQ8	FAT2_HUMAN	Y	3298	ENSP00000261800:S3298Y	ENSP00000261800:S3298Y	S	-	2	0	FAT2	150889065	0.988000	0.35896	1.000000	0.80357	0.972000	0.66771	5.374000	0.66167	2.732000	0.93576	0.637000	0.83480	TCC		0.512	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		39	68	1	0	9.39024e-22	1	1.08789e-21	39	68					T	150908872	G	T	150908872	3	4	447	1	0	0	0	0	1	0	0	0	5690	1174	41	5	3196	5	FAT2	5	150908872	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	12047727	150908872	30006388	18	30721											
LCP2	3937	broad.mit.edu	37	chr5	169697831	169697831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatccgcgtcatcttccaCgggtgcctcttcctcctcat	6	13	6	16	3	4	0	2	0	2	0	8	0	8	0	5	1	1	0	5	1	1	3	rs369823137		TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr5:169697831C>T	ENST00000046794.5	-	7	1030	c.415G>A	c.(415-417)Gtg>Atg	p.V139M		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	139					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TCATCTTCCACGGGTGCCTCT	0.547													C|||	1	0.000199681	0	0	5008	,	,		19616	0		0	False		,,,				2504	0.001					ENST00000046794.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(415-417)Gtg>Atg		lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)		C	MET/VAL	0,4304		0,0,2152	87	106	100		415	-0.6	0	5		100	1,8491		0,1,4245	no	missense	LCP2	NM_005565.3	21	0,1,6397	TT,TC,CC		0.0118,0.0,0.0078	benign	139/534	169697831	1,12795	2152	4246	6398	SO:0001583	missense	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169697831C>T		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.415G>A	5.37:g.169697831C>T	ENSP00000046794:p.Val139Met						p.V139M	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)	7	1030	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	139					A8KA25|Q53XV4	Missense_Mutation	SNP	ENST00000046794.5	37	c.415G>A	CCDS47339.1	.	.	.	.	.	.	.	.	.	.	C	5.762	0.324956	0.10900	0.0	1.18E-4	ENSG00000043462	ENST00000046794	T	0.45668	0.89	5.4	-0.617	0.11579	.	1.767060	0.02386	N	0.079216	T	0.23492	0.0568	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.08055	0.003	T	0.08229	-1.0732	9	.	.	.	-0.2243	2.9675	0.05912	0.273:0.2919:0.3473:0.0878	.	139	Q13094	LCP2_HUMAN	M	139	ENSP00000046794:V139M	.	V	-	1	0	LCP2	169630409	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.096000	0.11059	0.027000	0.15297	-0.140000	0.14226	GTG		0.547	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		17	28	0	0	0	1	0	17	28					T	169697831	C	T	169697831	3	4	447	1	0	0	0	0	1	0	0	0	8692	536	19	1	1246	1	LCP2	5	169697831	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	18788959	169697831	11217429	19	30722											
PGBD1	84547	broad.mit.edu	37	chr6	28269439	28269439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatcctgatcttgggttagGtggaaatctagtgatgaact	10	13	13	5	0	2	3	0	3	2	0	3	5	3	5	1	4	1	1	1	4	4	3			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr6:28269439G>T	ENST00000405948.2	+	7	2228	c.1808G>T	c.(1807-1809)gGt>gTt	p.G603V	PGBD1_ENST00000259883.3_Missense_Mutation_p.G603V	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	603						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTTGGGTTAGGTGGAAATCTA	0.403																																						ENST00000405948.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1807-1809)gGt>gTt		piggyBac transposable element derived 1							148	147	148					6																	28269439		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269439G>T	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1808G>T	6.37:g.28269439G>T	ENSP00000385213:p.Gly603Val					PGBD1_ENST00000259883.3_Missense_Mutation_p.G603V	p.G603V	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			7	2228	+			603					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.1808G>T	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240000	0.58995	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.17854	2.25;2.25	4.66	4.66	0.58398	.	0.102557	0.34386	N	0.004012	T	0.30293	0.0760	M	0.66939	2.045	0.53688	D	0.999971	D	0.76494	0.999	D	0.81914	0.995	T	0.01972	-1.1237	10	0.87932	D	0	-9.8625	13.256	0.60079	0.0:0.0:1.0:0.0	.	603	Q96JS3	PGBD1_HUMAN	V	603	ENSP00000385213:G603V;ENSP00000259883:G603V	ENSP00000259883:G603V	G	+	2	0	PGBD1	28377418	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.268000	0.65536	2.581000	0.87130	0.655000	0.94253	GGT		0.403	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			43	76	1	0	8.20599e-20	1	9.3924e-20	43	76					T	28269439	G	T	28269439	3	4	447	1	0	0	0	0	1	0	0	0	11780	1261	44	5	1830	5	PGBD1	6	28269439	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		28269439	142845628	20	30723											
MUC21	394263	broad.mit.edu	37	chr6	30954953	30954953	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacagccaccaactctgAgtccagcacgacctccagtg	11	5	8	17	1	1	1	0	1	1	0	3	2	3	1	5	0	4	2	5	0	1	0			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr6:30954953A>G	ENST00000376296.3	+	2	1242	c.1001A>G	c.(1000-1002)gAg>gGg	p.E334G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	334	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCAACTCTGAGTCCAGCACG	0.622																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1000-1002)gAg>gGg		mucin 21, cell surface associated							139	140	139					6																	30954953		2202	4296	6498	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954953A>G	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1001A>G	6.37:g.30954953A>G	ENSP00000365473:p.Glu334Gly					MUC21_ENST00000486149.2_5'UTR	p.E334G	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	1242	+			334			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.1001A>G	CCDS34388.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	10.86|10.86	1.469256|1.469256	0.26423|0.26423	.|.	.|.	ENSG00000204544|ENSG00000204544	ENST00000450707|ENST00000376296	.|T	.|0.01613	.|4.73	4.44|4.44	-8.89|-8.89	0.00785|0.00785	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00241	.|0.0007	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	.|T	.|0.48614	.|-0.9020	.|8	.|.	.|.	.|.	.|3.5	0.6308|0.6308	0.00794|0.00794	0.3354:0.207:0.2691:0.1885|0.3354:0.207:0.2691:0.1885	.|.	.|334	.|Q5SSG8	.|MUC21_HUMAN	.|G	-1|334	.|ENSP00000365473:E334G	.|.	.|E	+|+	.|2	.|0	MUC21|MUC21	31062932|31062932	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-3.807000|-3.807000	0.00361|0.00361	-2.230000|-2.230000	0.00719|0.00719	0.482000|0.482000	0.46254|0.46254	.|GAG		0.622	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		7	190	0	0	0	1	0	7	190					G	30954953	A	G	30954953	3	3	447	1	0	0	0	0	1	0	0	0	9977	304	11	4	1007	4	MUC21	6	30954953	Missense_Mutation	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08	2685514	30954953	140160114	21	30724											
RXRB	6257	broad.mit.edu	37	chr6	33165658	33165658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagtatgtaaggtctttgCggatggtgcgtttgaagaag	11	12	15	3	2	1	3	0	1	1	2	1	4	1	4	0	3	2	3	0	3	5	4			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr6:33165658C>T	ENST00000374680.3	-	4	912	c.701G>A	c.(700-702)cGc>cAc	p.R234H	RXRB_ENST00000374685.4_Missense_Mutation_p.R234H|SLC39A7_ENST00000374675.3_5'Flank|RXRB_ENST00000413614.2_Missense_Mutation_p.R138H|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374677.3_5'Flank|RXRB_ENST00000544186.1_Missense_Mutation_p.R44H	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	234					cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R234H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	AAGGTCTTTGCGGATGGTGCG	0.542																																						ENST00000374680.3																			1	Substitution - Missense(1)	p.R234H(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15						c.(700-702)cGc>cAc		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						85	68	74					6																	33165658		1511	2709	4220	SO:0001583	missense	6257				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	g.chr6:33165658C>T	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.701G>A	6.37:g.33165658C>T	ENSP00000363812:p.Arg234His					RXRB_ENST00000413614.2_Missense_Mutation_p.R138H|RXRB_ENST00000374685.4_Missense_Mutation_p.R234H|RXRB_ENST00000544186.1_Missense_Mutation_p.R44H	p.R234H	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN			4	912	-			234					P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	c.701G>A	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929967	0.92389	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186;ENST00000413614	D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37	4.37	4.37	0.52481	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.056585	0.64402	D	0.000002	D	0.98305	0.9438	M	0.86268	2.805	0.58432	D	0.99999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.994;0.998;0.999;1.0;0.999;0.999;0.998;0.999	D	0.99113	1.0847	10	0.87932	D	0	.	14.8072	0.69965	0.0:1.0:0.0:0.0	.	138;234;117;44;234;234;274;234	B7Z3E4;B7Z6J2;B7Z6X3;E9PK95;Q5STQ1;Q5STP9;Q59G65;P28702	.;.;.;.;.;.;.;RXRB_HUMAN	H	234;234;44;138	ENSP00000363817:R234H;ENSP00000363812:R234H;ENSP00000439222:R44H;ENSP00000415561:R138H	ENSP00000363812:R234H	R	-	2	0	RXRB	33273636	0.994000	0.37717	0.981000	0.43875	0.830000	0.47004	5.882000	0.69714	2.428000	0.82296	0.448000	0.29417	CGC		0.542	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		3	39	0	0	0	1	0	3	39					T	33165658	C	T	33165658	3	4	447	1	0	0	0	0	1	0	0	0	13764	768	27	1	928	1	RXRB	6	33165658	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	2210705	33165658	137949409	22	30725											
GPR116	221395	broad.mit.edu	37	chr6	46826111	46826111	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgatcagtgctgggaTggcgaaagccagcagggcct	11	6	14	10	1	1	1	1	1	0	0	1	3	1	2	2	3	3	2	2	3	2	0			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr6:46826111T>A	ENST00000283296.7	-	17	3817	c.3529A>T	c.(3529-3531)Atc>Ttc	p.I1177F	GPR116_ENST00000362015.4_Missense_Mutation_p.I1177F|GPR116_ENST00000265417.7_Missense_Mutation_p.I1177F|GPR116_ENST00000456426.2_Missense_Mutation_p.I1035F|GPR116_ENST00000545669.1_Missense_Mutation_p.I606F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1177					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGTGCTGGGATGGCGAAAGCC	0.547																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3529-3531)Atc>Ttc		G protein-coupled receptor 116							67	60	62					6																	46826111		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826111T>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3529A>T	6.37:g.46826111T>A	ENSP00000283296:p.Ile1177Phe					GPR116_ENST00000362015.4_Missense_Mutation_p.I1177F|GPR116_ENST00000265417.7_Missense_Mutation_p.I1177F|GPR116_ENST00000456426.2_Missense_Mutation_p.I1035F|GPR116_ENST00000545669.1_Missense_Mutation_p.I606F	p.I1177F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3817	-			1177					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.3529A>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.619085	0.28801	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.38	2.99	0.34606	GPCR, family 2-like (1);	0.094859	0.45126	D	0.000390	T	0.49881	0.1583	M	0.78637	2.42	0.51767	D	0.999936	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.989;0.992;1.0;0.994;1.0	T	0.53143	-0.8480	10	0.59425	D	0.04	-22.5942	8.2989	0.32001	0.0:0.215:0.0:0.785	.	606;732;1177;1035;1177	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	F	1177;1177;1177;1035;548;1177;606	ENSP00000283296:I1177F;ENSP00000354563:I1177F;ENSP00000412866:I1035F;ENSP00000265417:I1177F;ENSP00000441581:I606F	ENSP00000265417:I1177F	I	-	1	0	GPR116	46934070	0.988000	0.35896	0.521000	0.27850	0.203000	0.24098	0.795000	0.26972	0.440000	0.26502	-0.911000	0.02809	ATC		0.547	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		5	80	0	0	0	1	0	5	80					A	46826111	T	A	46826111	3	1	447	1	0	0	0	0	1	0	0	0	6633	1464	51	5	531	5	GPR116	6	46826111	Missense_Mutation	SNP	T	TCGA-YJ-A8SW-01A-11D-A377-08	13660453	46826111	124288956	23	30726											
TNFRSF21	27242	broad.mit.edu	37	chr6	47221120	47221120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtccagtgctgcagagctgCgtaggcccgctcgtggtcgg	4	8	17	12	4	0	1	0	0	0	1	3	1	1	1	2	4	4	5	2	4	1	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr6:47221120C>T	ENST00000296861.2	-	4	1774	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	461	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGCAGAGCTGCGTAGGCCCGC	0.582																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(1381-1383)Gca>Aca		tumor necrosis factor receptor superfamily, member 21							67	60	62					6																	47221120		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47221120C>T	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1381G>A	6.37:g.47221120C>T	ENSP00000296861:p.Ala461Thr						p.A461T	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		4	1774	-			461			Death.		B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.1381G>A	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	36	5.898201	0.97081	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	D	0.86097	-2.07	6.16	6.16	0.99307	Death (3);DEATH-like (2);	0.089438	0.85682	D	0.000000	D	0.86397	0.5923	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87917	0.2701	10	0.87932	D	0	.	20.4702	0.99162	0.0:1.0:0.0:0.0	.	461	O75509	TNR21_HUMAN	T	461;150	ENSP00000296861:A461T	ENSP00000296861:A461T	A	-	1	0	TNFRSF21	47329079	1.000000	0.71417	0.985000	0.45067	0.935000	0.57460	7.618000	0.83043	2.937000	0.99478	0.650000	0.86243	GCA		0.582	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		20	42	0	0	0	1	0	20	42					T	47221120	C	T	47221120	3	4	447	1	0	0	0	0	1	0	0	0	16292	768	27	1	598	1	TNFRSF21	6	47221120	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	395009	47221120	123893947	24	30727											
VWC2	375567	broad.mit.edu	37	chr7	49951737	49951737	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggcacatggagaatcGagcggcaggccatgtgcacg	12	4	16	9	3	0	1	0	0	0	1	1	4	0	2	1	5	2	3	1	5	2	0			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:49951737G>T	ENST00000340652.4	+	4	1490	c.934G>T	c.(934-936)Gag>Tag	p.E312*	ZPBP_ENST00000491129.1_Intron	NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	312					negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						ATGGAGAATCGAGCGGCAGGC	0.488																																						ENST00000340652.3																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						c.(934-936)Gag>Tag		von Willebrand factor C domain containing 2							114	98	104					7																	49951737		2203	4300	6503	SO:0001587	stop_gained	375567				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		g.chr7:49951737G>T	AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"brorin", "brain-specific chordin-like"	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.934G>T	7.37:g.49951737G>T	ENSP00000341819:p.Glu312*					ZPBP_ENST00000491129.1_Intron	p.E312*	NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN			4	1490	+			312					Q6UXE2	Nonsense_Mutation	SNP	ENST00000340652.4	37	c.934G>T	CCDS5508.1	.	.	.	.	.	.	.	.	.	.	G	42	9.399684	0.99159	.	.	ENSG00000188730	ENST00000340652	.	.	.	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	20.0966	0.97849	0.0:0.0:1.0:0.0	.	.	.	.	X	312	.	ENSP00000341819:E312X	E	+	1	0	VWC2	49922283	1.000000	0.71417	0.232000	0.24009	0.926000	0.56050	8.940000	0.92958	2.751000	0.94390	0.650000	0.86243	GAG		0.488	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	NM_198570		4	31	1	0	0.150653	1	0.150653	4	31					T	49951737	G	T	49951737	4	4	447	1	0	0	0	0	0	1	0	0	17240	1059	37	5	944	5	VWC2	7	49951737	Nonsense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		49951737	109186926	25	30728											
TRRAP	8295	broad.mit.edu	37	chr7	98522824	98522824	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgatcaaatgcttcctGgtggccatgatgagcctgga	10	10	13	8	0	1	3	1	3	0	0	2	5	2	4	3	3	2	1	3	3	2	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:98522824G>T	ENST00000359863.4	+	22	3122	c.2913G>T	c.(2911-2913)ctG>ctT	p.L971L	TRRAP_ENST00000446306.3_Silent_p.L970L|TRRAP_ENST00000355540.3_Silent_p.L971L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	971					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			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)			AATGCTTCCTGGTGGCCATGA	0.562																																						ENST00000359863.4																			0				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						c.(2911-2913)ctG>ctT		transformation/transcription domain-associated protein							171	137	148					7																	98522824		2203	4300	6503	SO:0001819	synonymous_variant	8295				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	g.chr7:98522824G>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2913G>T	7.37:g.98522824G>T						TRRAP_ENST00000355540.3_Silent_p.L971L|TRRAP_ENST00000446306.3_Silent_p.L970L	p.L971L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		22	3122	+	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)		971					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.2913G>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239646	0.22711	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.17	4.36	0.52297	.	.	.	.	.	T	0.63462	0.2513	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60500	-0.7251	4	.	.	.	.	12.2011	0.54326	0.0614:0.2256:0.713:0.0	.	.	.	.	L	686	.	.	W	+	2	0	TRRAP	98360760	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.878000	0.56130	0.925000	0.37094	-0.165000	0.13383	TGG		0.562	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		70	67	1	0	2.08929e-35	1	2.51243e-35	70	67					T	98522824	G	T	98522824	2	4	447	1	0	0	0	0	0	0	0	1	16598	1335	47	5		5	TRRAP	7	98522824	Silent	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	48571087	98522824	60615839	26	30729											
ZKSCAN1	7586	broad.mit.edu	37	chr7	99621804	99621804	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagttcatggacctgagAtgctcgcaagggggatggtg	9	9	16	7	1	2	1	2	1	0	1	3	4	2	3	1	4	1	3	1	4	2	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:99621804A>G	ENST00000324306.6	+	3	688	c.454A>G	c.(454-456)Atg>Gtg	p.M152V	ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.M116V	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGGACCTGAGATGCTCGCAAG	0.488																																						ENST00000324306.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(454-456)Atg>Gtg		zinc finger with KRAB and SCAN domains 1							93	83	86					7																	99621804		2203	4300	6503	SO:0001583	missense	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99621804A>G	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.454A>G	7.37:g.99621804A>G	ENSP00000323148:p.Met152Val					ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.M116V	p.M152V	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		3	688	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		152					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	c.454A>G	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	A	4.583	0.108398	0.08780	.	.	ENSG00000106261	ENST00000324306;ENST00000426572	T;T	0.04406	3.69;3.63	4.69	4.69	0.59074	Transcription regulator SCAN (1);	0.000000	0.64402	D	0.000009	T	0.02649	0.0080	N	0.08118	0	0.80722	D	1	B;P	0.34864	0.323;0.473	B;B	0.38194	0.267;0.174	T	0.43130	-0.9410	10	0.02654	T	1	.	10.4569	0.44557	1.0:0.0:0.0:0.0	.	152;116	P17029;E9PC66	ZKSC1_HUMAN;.	V	152;116	ENSP00000323148:M152V;ENSP00000409172:M116V	ENSP00000323148:M152V	M	+	1	0	ZKSCAN1	99459740	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.821000	0.48065	1.971000	0.57363	0.402000	0.26972	ATG		0.488	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		4	109	0	0	0	1	0	4	109					G	99621804	A	G	99621804	3	3	447	1	0	0	0	0	1	0	0	0	17683	333	12	4	460	4	ZKSCAN1	7	99621804	Missense_Mutation	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08	1098980	99621804	59516859	27	30730											
LAMB1	3912	broad.mit.edu	37	chr7	107642017	107642017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacctgcaagtggctgaCgatacagtagggttcgggct	8	9	13	11	2	1	1	1	1	0	0	2	2	1	1	2	3	2	5	2	3	3	3			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:107642017C>T	ENST00000222399.6	-	3	429	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	LAMB1_ENST00000393560.1_Missense_Mutation_p.V67I|LAMB1_ENST00000393561.1_Missense_Mutation_p.V91I|U3_ENST00000458938.1_RNA	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	67	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			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						AAGTGGCTGACGATACAGTAG	0.652																																						ENST00000393561.1																			0				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						c.(271-273)Gtc>Atc		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						23	24	23					7																	107642017		2202	4300	6502	SO:0001583	missense	3912				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	g.chr7:107642017C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.199G>A	7.37:g.107642017C>T	ENSP00000222399:p.Val67Ile					LAMB1_ENST00000393560.1_Missense_Mutation_p.V67I|LAMB1_ENST00000222399.6_Missense_Mutation_p.V67I	p.V91I			P07942	LAMB1_HUMAN			1	455	-			67			Laminin N-terminal.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.271G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	35	5.455260	0.96223	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560;ENST00000439976;ENST00000393559	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.19	5.19	0.71726	Laminin, N-terminal (3);	.	.	.	.	D	0.85843	0.5791	M	0.77616	2.38	0.80722	D	1	D;P;D;P	0.76494	0.999;0.688;0.969;0.794	D;B;P;B	0.64687	0.928;0.217;0.665;0.185	D	0.86836	0.2014	9	0.56958	D	0.05	.	18.6625	0.91475	0.0:1.0:0.0:0.0	.	153;67;67;91	C9J296;E7EPA6;P07942;G3XAI2	.;.;LAMB1_HUMAN;.	I	91;67;67;153;67	ENSP00000377191:V91I;ENSP00000222399:V67I;ENSP00000377190:V67I;ENSP00000412686:V153I;ENSP00000377189:V67I	ENSP00000222399:V67I	V	-	1	0	LAMB1	107429253	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	7.423000	0.80229	2.568000	0.86640	0.462000	0.41574	GTC		0.652	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		4	28	0	0	0	1	0	4	28					T	107642017	C	T	107642017	3	4	447	1	0	0	0	0	1	0	0	0	8610	536	19	1	5289	1	LAMB1	7	107642017	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	8020213	107642017	51496646	28	30731											
EXOC4	60412	broad.mit.edu	37	chr7	133160106	133160106	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattaactgagtacttggatAtgaaaaatactcgtacggcc	14	12	8	7	2	0	2	0	2	0	0	1	3	0	3	1	2	4	2	1	2	8	7			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:133160106A>G	ENST00000253861.4	+	8	1236	c.1207A>G	c.(1207-1209)Atg>Gtg	p.M403V	EXOC4_ENST00000539845.1_Missense_Mutation_p.M302V|EXOC4_ENST00000393161.2_Missense_Mutation_p.M403V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	403					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTACTTGGATATGAAAAATAC	0.358																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(1207-1209)Atg>Gtg		exocyst complex component 4							102	105	104					7																	133160106		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133160106A>G	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1207A>G	7.37:g.133160106A>G	ENSP00000253861:p.Met403Val					EXOC4_ENST00000539845.1_Missense_Mutation_p.M302V|EXOC4_ENST00000393161.2_Missense_Mutation_p.M403V	p.M403V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			8	1236	+		Esophageal squamous(399;0.129)	403					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.1207A>G	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.256402	0.22965	.	.	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000546185;ENST00000539845	.	.	.	5.34	5.34	0.76211	.	0.051466	0.85682	D	0.000000	T	0.35828	0.0945	N	0.04508	-0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16689	-1.0394	9	0.26408	T	0.33	.	14.9773	0.71283	1.0:0.0:0.0:0.0	.	403;403	Q96A65;Q8TAR2	EXOC4_HUMAN;.	V	403;403;22;302	.	ENSP00000253861:M403V	M	+	1	0	EXOC4	132810646	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.299000	0.72770	2.011000	0.59026	0.455000	0.32223	ATG		0.358	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		117	104	0	0	0	1	0	117	104					G	133160106	A	G	133160106	3	3	447	1	0	0	0	0	1	0	0	0	5306	449	16	4	1237	4	EXOC4	7	133160106	Missense_Mutation	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08	25518089	133160106	25978557	29	30732											
GTF2E2	2961	broad.mit.edu	37	chr8	30472224	30472224	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcgtatctcctcgctgAtgccgtgtctatcaagtgaa	8	12	11	10	3	3	2	1	2	2	0	5	3	3	3	2	1	2	2	2	1	4	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr8:30472224A>G	ENST00000355904.4	-	4	549	c.267T>C	c.(265-267)caT>caC	p.H89H	GTF2E2_ENST00000522833.1_5'Flank	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	89					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CTCCTCGCTGATGCCGTGTCT	0.358																																						ENST00000355904.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(265-267)caT>caC		general transcription factor IIE, polypeptide 2, beta 34kDa							146	126	133					8																	30472224		2203	4300	6503	SO:0001819	synonymous_variant	2961				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	g.chr8:30472224A>G	BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"General transcription factors"	4651	protein-coding gene	gene with protein product		189964	"general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.267T>C	8.37:g.30472224A>G							p.H89H	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	4	549	-			89					D3DSV2|Q9H2B9	Silent	SNP	ENST00000355904.4	37	c.267T>C	CCDS6078.1																																																																																				0.358	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		13	25	0	0	0	1	0	13	25					G	30472224	A	G	30472224	2	3	447	1	0	0	0	0	0	0	0	1	6857	330	12	4		4	GTF2E2	8	30472224	Silent	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08		30472224	115891798	30	30733											
ZFHX4	79776	broad.mit.edu	37	chr8	77767002	77767002	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaccacgatcaccccggaAcagctggaaatactctatga	15	6	8	12	2	2	2	1	1	1	1	2	5	2	4	3	2	4	1	3	2	5	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr8:77767002A>G	ENST00000521891.2	+	10	8293	c.7845A>G	c.(7843-7845)gaA>gaG	p.E2615E	ZFHX4_ENST00000050961.6_Silent_p.E2570E|ZFHX4_ENST00000518282.1_Silent_p.E2589E|ZFHX4_ENST00000455469.2_Silent_p.E2570E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			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)			TCACCCCGGAACAGCTGGAAA	0.433										HNSCC(33;0.089)																												ENST00000521891.2																			0				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						c.(7843-7845)gaA>gaG		zinc finger homeobox 4							43	42	42					8																	77767002		1871	4096	5967	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767002A>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7845A>G	8.37:g.77767002A>G		HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Silent_p.E2570E|ZFHX4_ENST00000518282.1_Silent_p.E2589E|ZFHX4_ENST00000050961.6_Silent_p.E2570E	p.E2615E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8293	+			2570					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7845A>G	CCDS47878.2																																																																																				0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		12	34	0	0	0	1	0	12	34					G	77767002	A	G	77767002	2	3	447	1	0	0	0	0	0	0	0	1	17632	40	2	4		4	ZFHX4	8	77767002	Silent	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08	47294778	77767002	68597020	31	30734											
NR6A1	2649	broad.mit.edu	37	chr9	127289153	127289153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggtagatgagccgctcgAtcacctccatcccttcatca	10	9	8	14	2	3	3	3	1	0	2	6	4	5	3	4	1	1	2	4	1	1	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr9:127289153A>G	ENST00000487099.2	-	8	1263	c.1106T>C	c.(1105-1107)aTc>aCc	p.I369T	NR6A1_ENST00000416460.2_Missense_Mutation_p.I364T|NR6A1_ENST00000344523.4_Missense_Mutation_p.I368T|NR6A1_ENST00000373584.3_Missense_Mutation_p.I365T	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	369					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GAGCCGCTCGATCACCTCCAT	0.488																																					Esophageal Squamous(192;272 2884 6208 20560)	ENST00000487099.2																			0				NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						c.(1105-1107)aTc>aCc		nuclear receptor subfamily 6, group A, member 1							139	115	123					9																	127289153		2203	4300	6503	SO:0001583	missense	2649				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	g.chr9:127289153A>G	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"Nuclear hormone receptors"	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.1106T>C	9.37:g.127289153A>G	ENSP00000420267:p.Ile369Thr					NR6A1_ENST00000416460.2_Missense_Mutation_p.I364T|NR6A1_ENST00000344523.4_Missense_Mutation_p.I368T|NR6A1_ENST00000373584.3_Missense_Mutation_p.I365T	p.I369T	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN			8	1263	-			369					O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	ENST00000487099.2	37	c.1106T>C	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.227582	0.58668	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523	D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45	5.15	5.15	0.70609	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.041356	0.85682	D	0.000000	D	0.95082	0.8407	L	0.36672	1.1	0.44129	D	0.996912	B;P;B	0.34699	0.183;0.464;0.009	B;B;B	0.39465	0.131;0.3;0.013	D	0.95141	0.8264	10	0.66056	D	0.02	.	14.4633	0.67467	1.0:0.0:0.0:0.0	.	365;369;364	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	T	369;365;364;368	ENSP00000420267:I369T;ENSP00000362686:I365T;ENSP00000413701:I364T;ENSP00000341135:I368T	ENSP00000341135:I368T	I	-	2	0	NR6A1	126328974	1.000000	0.71417	0.949000	0.38748	0.982000	0.71751	8.687000	0.91255	2.060000	0.61445	0.533000	0.62120	ATC		0.488	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			19	28	0	0	0	1	0	19	28					G	127289153	A	G	127289153	3	3	447	1	0	0	0	0	1	0	0	0	10637	333	12	4	348	4	NR6A1	9	127289153	Missense_Mutation	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08		127289153	13924278	32	30735											
TSC1	7248	broad.mit.edu	37	chr9	135771698	135771698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtccggggtcgggggagacGggtgagggccatctaggttc	5	8	20	8	3	1	2	0	1	1	1	4	3	2	2	2	7	0	1	2	7	1	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr9:135771698G>A	ENST00000298552.3	-	23	3640	c.3419C>T	c.(3418-3420)cCg>cTg	p.P1140L	TSC1_ENST00000545250.1_Missense_Mutation_p.P1089L|TSC1_ENST00000440111.2_Missense_Mutation_p.P1140L	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1140					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	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)		CGGGGGAGACGGGTGAGGGCC	0.507			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000298552.3			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"D, Mis, N, F, S"	tuberous sclerosis 1 gene			"E, O"		"hamartoma, renal cell"			1	Unknown(1)	p.?(1)	bone(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						c.(3418-3420)cCg>cTg		tuberous sclerosis 1							173	142	152					9																	135771698		2203	4300	6503	SO:0001583	missense	0	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	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	g.chr9:135771698G>A	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.3419C>T	9.37:g.135771698G>A	ENSP00000298552:p.Pro1140Leu					TSC1_ENST00000545250.1_Missense_Mutation_p.P1089L|TSC1_ENST00000440111.2_Missense_Mutation_p.P1140L	p.P1140L	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	23	3640	-			1140					B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.3419C>T	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	G	9.711	1.157153	0.21454	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;T	0.82081	-1.57;-1.57;-1.38	5.67	3.84	0.44239	.	0.631229	0.16000	N	0.234351	T	0.72740	0.3498	L	0.33485	1.01	0.09310	N	0.999997	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.60161	-0.7317	10	0.38643	T	0.18	-0.8553	7.8916	0.29682	0.2518:0.0:0.7482:0.0	.	1089;1140	B7Z897;Q92574	.;TSC1_HUMAN	L	1140;1140;1089	ENSP00000298552:P1140L;ENSP00000394524:P1140L;ENSP00000444017:P1089L	ENSP00000298552:P1140L	P	-	2	0	TSC1	134761519	0.994000	0.37717	0.001000	0.08648	0.722000	0.41435	2.962000	0.49176	0.754000	0.32968	0.563000	0.77884	CCG		0.507	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			18	27	0	0	0	1	0	18	27					A	135771698	G	A	135771698	3	1	447	1	0	0	0	0	1	0	0	0	16602	1116	39	2	79	2	TSC1	9	135771698	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	8482545	135771698	5441733	33	30736											
SPAG6	9576	broad.mit.edu	37	chr10	22634710	22634710	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagatggtggcggagctggcGactagaccccaaaacatcga	12	5	13	11	3	0	2	0	0	0	2	1	5	0	3	2	4	2	1	2	4	3	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr10:22634710G>A	ENST00000376624.3	+	2	226	c.84G>A	c.(82-84)gcG>gcA	p.A28A	SPAG6_ENST00000376601.1_Silent_p.A28A|SPAG6_ENST00000376603.2_Silent_p.A28A|SPAG6_ENST00000313311.6_Silent_p.A28A|SPAG6_ENST00000538630.1_5'UTR	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	28					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CGGAGCTGGCGACTAGACCCC	0.687																																						ENST00000376603.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						c.(82-84)gcG>gcA		sperm associated antigen 6							45	41	43					10																	22634710		2203	4299	6502	SO:0001819	synonymous_variant	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22634710G>A	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"Armadillo repeat containing"	11215	protein-coding gene	gene with protein product	"axoneme central apparatus protein"	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.84G>A	10.37:g.22634710G>A						SPAG6_ENST00000538630.1_5'UTR|SPAG6_ENST00000376601.1_Silent_p.A28A|SPAG6_ENST00000376624.3_Silent_p.A28A|SPAG6_ENST00000313311.6_Silent_p.A28A	p.A28A			O75602	SPAG6_HUMAN			2	226	+			28					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Silent	SNP	ENST00000376624.3	37	c.84G>A	CCDS7139.1																																																																																				0.687	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			4	14	0	0	0	1	0	4	14					A	22634710	G	A	22634710	2	1	447	1	0	0	0	0	0	0	0	1	14982	1045	37	2		2	SPAG6	10	22634710	Silent	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		22634710	112900037	34	30737											
B4GALNT4	338707	broad.mit.edu	37	chr11	373292	373292	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgtggcctttgtgggcaagGtacccccaccccagccctgg	5	9	12	15	0	0	0	0	0	0	0	0	0	0	0	6	4	2	2	6	4	2	3			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:373292G>C	ENST00000329962.6	+	6	636		c.e6+1			NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			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)		TGTGGGCAAGGTACCCCCACC	0.627																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.e6+1		beta-1,4-N-acetyl-galactosaminyl transferase 4							47	46	46					11																	373292		2194	4294	6488	SO:0001630	splice_region_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:373292G>C	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.636+1G>C	11.37:g.373292G>C								NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		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)	6	636	+		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)						Q96LV2	Splice_Site	SNP	ENST00000329962.6	37		CCDS7694.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781945	0.70222	.	.	ENSG00000182272	ENST00000329962	.	.	.	3.83	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4344	0.83871	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	B4GALNT4	363292	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	6.709000	0.74665	2.164000	0.68074	0.472000	0.43445	.		0.627	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537	Intron	6	12	0	0	0	1	0	6	12					C	373292	G	C	373292	5	2	447	1	0	0	0	0	0	0	1	0	1269	1275	44	5	659	5	B4GALNT4	11	373292	Splice_Site	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		373292	134633224	35	30738											
B4GALNT4	338707	broad.mit.edu	37	chr11	379668	379668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccactgcgcctggcctggCgccaggacgtgatggttcac	5	7	15	14	3	1	1	1	1	0	0	1	2	1	2	4	5	1	1	4	5	0	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:379668C>T	ENST00000329962.6	+	15	2455	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	819					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			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)		CCTGGCCTGGCGCCAGGACGT	0.687																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(2455-2457)Cgc>Tgc		beta-1,4-N-acetyl-galactosaminyl transferase 4							6	7	7					11																	379668		2039	4105	6144	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:379668C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2455C>T	11.37:g.379668C>T	ENSP00000328277:p.Arg819Cys						p.R819C	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		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)	15	2455	+		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)	819					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.2455C>T	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	c	18.82	3.704889	0.68615	.	.	ENSG00000182272	ENST00000329962	T	0.15952	2.38	3.61	3.61	0.41365	.	0.261873	0.31784	N	0.007061	T	0.33089	0.0851	L	0.59436	1.845	0.48571	D	0.999677	D	0.71674	0.998	D	0.75020	0.985	T	0.03121	-1.1070	10	0.56958	D	0.05	-22.6204	9.3009	0.37845	0.3749:0.6251:0.0:0.0	.	819	Q76KP1	B4GN4_HUMAN	C	819	ENSP00000328277:R819C	ENSP00000328277:R819C	R	+	1	0	B4GALNT4	369668	0.932000	0.31603	1.000000	0.80357	0.996000	0.88848	0.689000	0.25437	2.022000	0.59522	0.555000	0.69702	CGC		0.687	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		3	10	0	0	0	1	0	3	10					T	379668	C	T	379668	3	4	447	1	0	0	0	0	1	0	0	0	1269	768	27	1	2513	1	B4GALNT4	11	379668	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	6376	379668	134626848	36	30739											
TRIM22	10346	broad.mit.edu	37	chr11	5718478	5718478	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtataatttatttcttacagGaaaagctgcaggtagccctg	12	13	9	7	0	1	0	0	0	1	0	1	1	1	1	1	2	4	4	1	2	7	7			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:5718478G>A	ENST00000379965.3	+	3	701	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	142					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			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)		TTTCTTACAGGAAAAGCTGCA	0.458											OREG0003730	type=REGULATORY REGION|Gene=TRIM22|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									GBM(104;491 2336 5222)	ENST00000379965.3																			0				kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23						c.e3-1		tripartite motif containing 22							29	31	31					11																	5718478		1833	4119	5952	SO:0001630	splice_region_variant	10346				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	g.chr11:5718478G>A	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.424-1G>A	11.37:g.5718478G>A			OREG0003730	type=REGULATORY REGION|Gene=TRIM22|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	628	TRIM5_ENST00000380027.1_Intron	p.E142_splice	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	3	701	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	142					Q05CQ0|Q15521	Splice_Site	SNP	ENST00000379965.3	37	c.423_splice	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828869	0.32329	.	.	ENSG00000132274	ENST00000379965;ENST00000425490;ENST00000414641	T;T;T	0.57436	0.4;0.4;0.4	4.2	1.18	0.20946	.	.	.	.	.	T	0.56396	0.1982	L	0.48935	1.535	0.26094	N	0.980911	P;P	0.45594	0.862;0.561	P;P	0.56788	0.806;0.46	T	0.45527	-0.9255	8	.	.	.	.	7.0624	0.25133	0.3154:0.0:0.6846:0.0	.	142;142	Q8IYM9-2;Q8IYM9	.;TRI22_HUMAN	K	142	ENSP00000369299:E142K;ENSP00000400417:E142K;ENSP00000396849:E142K	.	E	+	1	0	TRIM22	5675054	0.862000	0.29867	0.606000	0.28943	0.118000	0.20060	0.980000	0.29513	0.140000	0.18849	0.467000	0.42956	GAA		0.458	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074	Missense_Mutation	7	13	0	0	0	1	0	7	13					A	5718478	G	A	5718478	5	1	447	1	0	0	0	0	0	0	1	0	16493	1188	41	3	430	3	TRIM22	11	5718478	Splice_Site	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	5338810	5718478	129288038	37	30740											
MPEG1	219972	broad.mit.edu	37	chr11	58979712	58979712	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataagagcagccccagcgtcGacactggtggtgacgtgggt	9	7	15	10	3	0	2	0	1	0	1	1	3	0	2	2	3	3	1	2	3	1	1	rs370837054		TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:58979712G>A	ENST00000361050.3	-	1	712	c.627C>T	c.(625-627)gtC>gtT	p.V209V	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	209	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				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)				CCCCAGCGTCGACACTGGTGG	0.587													G|||	1	0.000199681	0	0	5008	,	,		15873	0		0.001	False		,,,				2504	0					ENST00000361050.3																			0				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						c.(625-627)gtC>gtT		macrophage expressed 1		G		1,3949		0,1,1974	73	70	71		627	3.4	0.9	11		71	0,8284		0,0,4142	no	coding-synonymous	MPEG1	NM_001039396.1		0,1,6116	AA,AG,GG		0.0,0.0253,0.0082		209/717	58979712	1,12233	1975	4142	6117	SO:0001819	synonymous_variant	219972					integral to membrane		g.chr11:58979712G>A	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.627C>T	11.37:g.58979712G>A							p.V209V	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	712	-		all_epithelial(135;0.125)	209			MACPF.		Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	37	c.627C>T	CCDS41650.1																																																																																				0.587	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		22	53	0	0	0	1	0	22	53					A	58979712	G	A	58979712	2	1	447	1	0	0	0	0	0	0	0	1	9723	1045	37	2		2	MPEG1	11	58979712	Silent	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	53261234	58979712	76026804	38	30741											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810951	65810951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtgcgccgagaagttgcggGggtagcagaactggtgctcg	8	7	18	8	4	0	2	0	0	0	2	1	3	0	2	1	3	5	4	1	3	3	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:65810951G>T	ENST00000312006.4	-	3	604	c.323C>A	c.(322-324)cCc>cAc	p.P108H	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P108H	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	108					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GAAGTTGCGGGGGTAGCAGAA	0.692																																						ENST00000312006.4																			0				kidney(1)|lung(9)|ovary(2)|skin(2)	14						c.(322-324)cCc>cAc		galactose-3-O-sulfotransferase 3							23	23	23					11																	65810951		2201	4290	6491	SO:0001583	missense	89792				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	g.chr11:65810951G>T	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.323C>A	11.37:g.65810951G>T	ENSP00000308591:p.Pro108His					GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P108H	p.P108H	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN			3	604	-			108					Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.323C>A	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269151	0.80469	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.32023	1.47;1.47	4.49	4.49	0.54785	.	0.000000	0.64402	D	0.000001	T	0.59932	0.2230	M	0.87617	2.895	0.58432	D	0.999992	D	0.89917	1.0	D	0.74674	0.984	T	0.67968	-0.5533	10	0.62326	D	0.03	-35.161	15.0675	0.72008	0.0:0.0:1.0:0.0	.	108	Q96A11	G3ST3_HUMAN	H	108	ENSP00000308591:P108H;ENSP00000434829:P108H	ENSP00000308591:P108H	P	-	2	0	GAL3ST3	65567527	1.000000	0.71417	0.995000	0.50966	0.960000	0.62799	9.772000	0.98984	2.213000	0.71641	0.462000	0.41574	CCC		0.692	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		11	65	1	0	4.3838e-07	1	4.73251e-07	11	65					T	65810951	G	T	65810951	3	4	447	1	0	0	0	0	1	0	0	0	6199	1232	43	5	976	5	GAL3ST3	11	65810951	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	6831239	65810951	69195565	39	30742											
P4HA3	283208	broad.mit.edu	37	chr11	74013632	74013632	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttctcatagccatcctTcagagctgtaaaagtagtaa	13	11	6	11	0	2	1	2	0	1	1	4	1	3	1	3	0	2	4	3	0	5	6			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:74013632T>G	ENST00000331597.4	-	3	394	c.349A>C	c.(349-351)Aag>Cag	p.K117Q	P4HA3_ENST00000427714.2_Missense_Mutation_p.K117Q	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	117						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TAGCCATCCTTCAGAGCTGTA	0.463																																						ENST00000331597.4																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15						c.(349-351)Aag>Cag		prolyl 4-hydroxylase, alpha polypeptide III							71	67	69					11																	74013632		2200	4293	6493	SO:0001583	missense	283208					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	g.chr11:74013632T>G	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(III)"	608987	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.349A>C	11.37:g.74013632T>G	ENSP00000332170:p.Lys117Gln					P4HA3_ENST00000427714.2_Missense_Mutation_p.K117Q	p.K117Q	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN			3	394	-	Breast(11;2.31e-05)		117					A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	c.349A>C	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	T	12.61	1.988178	0.35036	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.55930	0.51;0.49	4.96	4.96	0.65561	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.049163	0.85682	D	0.000000	T	0.60766	0.2294	L	0.43152	1.355	0.38461	D	0.947222	D;B	0.71674	0.998;0.302	D;B	0.69824	0.966;0.229	T	0.57717	-0.7763	10	0.18276	T	0.48	-29.2261	12.8993	0.58117	0.0:0.0:0.0:1.0	.	117;117	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	Q	117	ENSP00000332170:K117Q;ENSP00000401749:K117Q	ENSP00000332170:K117Q	K	-	1	0	P4HA3	73691280	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.087000	0.64480	2.201000	0.70794	0.460000	0.39030	AAG		0.463	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		5	79	0	0	0	1	0	5	79					G	74013632	T	G	74013632	3	3	447	1	0	0	0	0	1	0	0	0	11358	1792	62	5	1329	5	P4HA3	11	74013632	Missense_Mutation	SNP	T	TCGA-YJ-A8SW-01A-11D-A377-08	8202681	74013632	60992884	40	30743											
RPUSD4	84881	broad.mit.edu	37	chr11	126075477	126075477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactttcaccattttcccatCgtccatgcggtagctcgggg	6	12	9	14	3	1	0	1	0	0	0	5	0	3	0	3	3	2	2	3	3	1	4	rs143531642		TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:126075477C>T	ENST00000298317.4	-	5	735	c.682G>A	c.(682-684)Gat>Aat	p.D228N	RPUSD4_ENST00000533628.1_Intron|RPUSD4_ENST00000534393.1_5'UTR	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	228					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	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)		ATTTTCCCATCGTCCATGCGG	0.557																																						ENST00000298317.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(682-684)Gat>Aat		RNA pseudouridylate synthase domain containing 4							121	109	113					11																	126075477		2201	4299	6500	SO:0001583	missense	84881				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr11:126075477C>T	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"RNA pseudouridylate synthase domain containing"	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.682G>A	11.37:g.126075477C>T	ENSP00000298317:p.Asp228Asn					RPUSD4_ENST00000534393.1_5'UTR|RPUSD4_ENST00000533628.1_Intron	p.D228N	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)	5	735	-	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)	228					E9PML2|Q96K56	Missense_Mutation	SNP	ENST00000298317.4	37	c.682G>A	CCDS8469.1	.	.	.	.	.	.	.	.	.	.	C	3.700	-0.061676	0.07317	.	.	ENSG00000165526	ENST00000298317	T	0.14516	2.5	5.72	-0.435	0.12279	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.902722	0.09786	N	0.756001	T	0.12135	0.0295	L	0.48218	1.51	0.23411	N	0.997736	B	0.06786	0.001	B	0.04013	0.001	T	0.35226	-0.9797	10	0.27785	T	0.31	-1.3144	9.4769	0.38878	0.0:0.5043:0.0:0.4957	.	228	Q96CM3	RUSD4_HUMAN	N	228	ENSP00000298317:D228N	ENSP00000298317:D228N	D	-	1	0	RPUSD4	125580687	0.000000	0.05858	0.223000	0.23860	0.107000	0.19398	-0.024000	0.12435	-0.096000	0.12329	-1.004000	0.02495	GAT		0.557	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		9	37	0	0	0	1	0	9	37					T	126075477	C	T	126075477	3	4	447	1	0	0	0	0	1	0	0	0	13669	884	31	2	463	2	RPUSD4	11	126075477	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	52061845	126075477	8931039	41	30744											
OPCML	4978	broad.mit.edu	37	chr11	132305999	132305999	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatacaatgtgatgctggcAttggtgttcccaagcttgtt	8	14	10	9	0	0	1	0	1	0	0	1	1	1	1	2	2	3	5	2	2	3	5			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:132305999A>T	ENST00000331898.7	-	6	1496	c.918T>A	c.(916-918)aaT>aaA	p.N306K	OPCML_ENST00000374778.4_Missense_Mutation_p.N265K|OPCML_ENST00000524381.1_Missense_Mutation_p.N299K|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.N306K	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	306	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGATGCTGGCATTGGTGTTCC	0.493																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(916-918)aaT>aaA		opioid binding protein/cell adhesion molecule-like							120	103	108					11																	132305999		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132305999A>T	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.918T>A	11.37:g.132305999A>T	ENSP00000330862:p.Asn306Lys					OPCML_ENST00000374778.4_Missense_Mutation_p.N265K|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.N299K|OPCML_ENST00000541867.1_Missense_Mutation_p.N306K	p.N306K	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	6	1496	-	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)	306			Ig-like C2-type 3.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.918T>A	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.703108	0.68501	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.91	-2.63	0.06133	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71281	0.3321	L	0.58969	1.84	0.50813	D	0.99989	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	T	0.71984	-0.4427	10	0.87932	D	0	-28.9798	13.3779	0.60750	0.5157:0.0:0.4843:0.0	.	306;299;305;306	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	K	306;299;265;273;306	ENSP00000330862:N306K;ENSP00000434750:N299K;ENSP00000363910:N265K;ENSP00000445496:N306K	ENSP00000330862:N306K	N	-	3	2	OPCML	131811209	0.684000	0.27642	0.990000	0.47175	0.984000	0.73092	0.021000	0.13489	-0.441000	0.07201	-1.305000	0.01319	AAT		0.493	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		15	16	0	0	0	1	0	15	16					T	132305999	A	T	132305999	3	4	447	1	0	0	0	0	1	0	0	0	10874	214	8	5	127	5	OPCML	11	132305999	Missense_Mutation	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08	6230522	132305999	2700517	42	30745											
C12orf35	55196	broad.mit.edu	37	chr12	32138464	32138464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaatccaccattctcaGgagtctaaaacatacaacat	17	9	3	12	0	3	0	2	0	2	0	5	1	4	1	2	1	3	0	2	1	6	3			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr12:32138464G>T	ENST00000312561.4	+	4	4989	c.4575G>T	c.(4573-4575)caG>caT	p.Q1525H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1525																	ACCATTCTCAGGAGTCTAAAA	0.363																																						ENST00000312561.4																			0											c.(4573-4575)caG>caT		KIAA1551							56	56	56					12																	32138464		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32138464G>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4575G>T	12.37:g.32138464G>T	ENSP00000310338:p.Gln1525His					KIAA1551_ENST00000535596.1_Intron	p.Q1525H	NM_018169.3	NP_060639.3					4	4989	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.4575G>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	4.792	0.147283	0.09134	.	.	ENSG00000174718	ENST00000312561	T	0.11604	2.76	5.33	0.825	0.18824	.	0.797600	0.11389	N	0.569020	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B	0.33448	0.412	B	0.35073	0.195	T	0.43032	-0.9416	9	.	.	.	.	4.372	0.11253	0.4854:0.1721:0.3425:0.0	.	1525	Q9HCM1	CL035_HUMAN	H	1525	ENSP00000310338:Q1525H	.	Q	+	3	2	C12orf35	32029731	0.036000	0.19791	0.141000	0.22245	0.245000	0.25701	0.317000	0.19487	0.232000	0.21100	-0.262000	0.10625	CAG		0.363	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		17	27	1	0	7.05477e-17	1	7.9786e-17	17	27					T	32138464	G	T	32138464	3	4	447	1	0	0	0	0	1	0	0	0	1682	991	35	5	4577	5	C12orf35	12	32138464	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		32138464	101713431	43	30746											
MLL2	8085	broad.mit.edu	37	chr12	49436102	49436102	+	Frame_Shift_Del	DEL	C	C	-																															cgggttccgggctaaagaagCccccgcgctccctggggcgc																								rs201850451		TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr12:49436102delC	ENST00000301067.7	-	28	5878	c.5879delG	c.(5878-5880)ggcfs	p.G1960fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1960					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCTAAAGAAGCCCCCGCGCTC	0.711																																						ENST00000301067.7																			0											c.(5878-5880)gcfs		lysine (K)-specific methyltransferase 2D							7	8	8					12																	49436102		1839	4005	5844	SO:0001589	frameshift_variant	8085							g.chr12:49436102delC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5879delG	12.37:g.49436102delC	ENSP00000301067:p.Gly1960fs						p.G1960fs	NM_003482.3	NP_003473.3					28	5878	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.5879delG	CCDS44873.1																																																																																				0.711	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			2	4						2	4	---	---	---	---	-	49436102	C	-	49436102	7	5	447	1	0	1	0	1	0	0	0	0	9621	739	26	0	10842	0	MLL2	12	49436102	Frame_Shift_Del	DEL	C	TCGA-YJ-A8SW-01A-11D-A377-08	17297638	49436102	84415793	44	30747											
UTP20	27340	broad.mit.edu	37	chr12	101689434	101689434	+	Frame_Shift_Del	DEL	G	G	-																															gttttctcaccgcagatggtGgggtgagttctaacttttta																										TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr12:101689434delG	ENST00000261637.4	+	12	1602	c.1428delG	c.(1426-1428)gtgfs	p.V476fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	476					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|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) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CGCAGATGGTGGGGTGAGTTC	0.403																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(1426-1428)gtfs		UTP20, small subunit (SSU) processome component, homolog (yeast)							61	54	56					12																	101689434		2203	4300	6503	SO:0001589	frameshift_variant	27340				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	g.chr12:101689434delG	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.1428delG	12.37:g.101689434delG	ENSP00000261637:p.Val476fs						p.V476fs	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			12	1602	+			476					Q9H3H4	Frame_Shift_Del	DEL	ENST00000261637.4	37	c.1428delG	CCDS9081.1																																																																																				0.403	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		22	48						22	48	---	---	---	---	-	101689434	G	-	101689434	7	5	447	1	0	1	0	1	0	0	0	0	17096	1335	47	0	1474	0	UTP20	12	101689434	Frame_Shift_Del	DEL	G	TCGA-YJ-A8SW-01A-11D-A377-08	52253332	101689434	32162461	45	30748											
ANKRD13A	88455	broad.mit.edu	37	chr12	110456956	110456956	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaatagacaactgggcggAgttaatggaagtcaaccatg	15	9	11	6	1	1	1	1	0	0	1	1	3	1	3	1	3	2	1	1	3	6	3	rs373926911		TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr12:110456956A>C	ENST00000261739.4	+	6	723	c.557A>C	c.(556-558)gAg>gCg	p.E186A	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	186						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						AACTGGGCGGAGTTAATGGAA	0.423																																						ENST00000261739.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						c.(556-558)gAg>gCg		ankyrin repeat domain 13A							136	141	139					12																	110456956		2203	4300	6503	SO:0001583	missense	88455							g.chr12:110456956A>C	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"Ankyrin repeat domain containing"	21268	protein-coding gene	gene with protein product		615123	"ankyrin repeat domain 13"	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.557A>C	12.37:g.110456956A>C	ENSP00000261739:p.Glu186Ala					ANKRD13A_ENST00000550404.1_3'UTR	p.E186A	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN			6	723	+			186					O60736	Missense_Mutation	SNP	ENST00000261739.4	37	c.557A>C	CCDS9140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.505|8.505	0.865240|0.865240	0.17250|0.17250	.|.	.|.	ENSG00000076513|ENSG00000076513	ENST00000261739|ENST00000547639	T|.	0.44083|.	0.93|.	5.92|5.92	4.77|4.77	0.60923|0.60923	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72137|0.72137	0.3423|0.3423	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;P;D|.	0.76494|.	0.999;0.63;0.999|.	D;B;D|.	0.85130|.	0.997;0.389;0.997|.	T|T	0.71810|0.71810	-0.4480|-0.4480	10|5	0.14252|.	T|.	0.57|.	-32.3992|-32.3992	11.8004|11.8004	0.52124|0.52124	0.8685:0.0:0.0:0.1315|0.8685:0.0:0.0:0.1315	.|.	186;186;186|.	B4DYP5;Q3ZTS7;Q8IZ07|.	.;.;AN13A_HUMAN|.	A|R	186|40	ENSP00000261739:E186A|.	ENSP00000261739:E186A|.	E|S	+|+	2|1	0|0	ANKRD13A|ANKRD13A	108941339|108941339	1.000000|1.000000	0.71417|0.71417	0.347000|0.347000	0.25668|0.25668	0.189000|0.189000	0.23516|0.23516	5.947000|5.947000	0.70242|0.70242	1.047000|1.047000	0.40274|0.40274	0.533000|0.533000	0.62120|0.62120	GAG|AGT		0.423	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		48	90	0	0	0	1	0	48	90					C	110456956	A	C	110456956	3	2	447	1	0	0	0	0	1	0	0	0	641	304	11	5	579	5	ANKRD13A	12	110456956	Missense_Mutation	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08	8767522	110456956	23394939	46	30749											
ARHGEF7	8874	broad.mit.edu	37	chr13	111935589	111935589	+	Frame_Shift_Del	DEL	C	C	-																															ccacccctcccaccacggcaCcccgcacaccaccatcaact																										TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr13:111935589delC	ENST00000375741.2	+	17	2142	c.1892delC	c.(1891-1893)accfs	p.T631fs	ARHGEF7_ENST00000375736.4_Frame_Shift_Del_p.T453fs|ARHGEF7_ENST00000478679.1_Frame_Shift_Del_p.T375fs|ARHGEF7_ENST00000375739.2_Frame_Shift_Del_p.T581fs|ARHGEF7_ENST00000375723.1_Frame_Shift_Del_p.T453fs|ARHGEF7_ENST00000218789.5_Frame_Shift_Del_p.T453fs|ARHGEF7_ENST00000426073.2_Frame_Shift_Del_p.T453fs|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000317133.5_Frame_Shift_Del_p.T610fs|ARHGEF7_ENST00000370623.3_Frame_Shift_Del_p.T538fs|ARHGEF7_ENST00000375737.5_Frame_Shift_Del_p.T528fs	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	631					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CACCACGGCACCCCGCACACC	0.721																																						ENST00000375741.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(1891-1893)acfs		Rho guanine nucleotide exchange factor (GEF) 7							42	39	40					13																	111935589		2181	4280	6461	SO:0001589	frameshift_variant	8874				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	g.chr13:111935589delC	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1892delC	13.37:g.111935589delC	ENSP00000364893:p.Thr631fs					ARHGEF7_ENST00000375723.1_Frame_Shift_Del_p.T453fs|ARHGEF7_ENST00000375736.4_Frame_Shift_Del_p.T453fs|ARHGEF7_ENST00000375739.2_Frame_Shift_Del_p.T581fs|ARHGEF7_ENST00000375737.5_Frame_Shift_Del_p.T528fs|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000370623.3_Frame_Shift_Del_p.T538fs|ARHGEF7_ENST00000218789.5_Frame_Shift_Del_p.T453fs|ARHGEF7_ENST00000478679.1_Frame_Shift_Del_p.T375fs|ARHGEF7_ENST00000317133.5_Frame_Shift_Del_p.T610fs|ARHGEF7_ENST00000426073.2_Frame_Shift_Del_p.T453fs	p.T631fs	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		17	2142	+	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)		631					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Frame_Shift_Del	DEL	ENST00000375741.2	37	c.1892delC	CCDS45068.1																																																																																				0.721	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		2	4						2	4	---	---	---	---	-	111935589	C	-	111935589	7	5	447	1	0	1	0	1	0	0	0	0	911	507	18	0	1958	0	ARHGEF7	13	111935589	Frame_Shift_Del	DEL	C	TCGA-YJ-A8SW-01A-11D-A377-08		111935589	3234289	47	30750											
FOXA1	3169	broad.mit.edu	37	chr14	38061131	38061155	+	Frame_Shift_Del	DEL	GCCGCTGCCCCCGCTTCCGCTCCCG	GCCGCTGCCCCCGCTTCCGCTCCCG	-																															ctctcagggccgcccttggcGccgctgcccccgcttccgct																										TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr14:38061131_38061155delGCCGCTGCCCCCGCTTCCGCTCCCG	ENST00000250448.2	-	2	895_919	c.834_858delCGGGAGCGGAAGCGGGGGCAGCGGC	c.(832-858)ggcgggagcggaagcgggggcagcggcfs	p.GGSGSGGSG278fs	FOXA1_ENST00000540786.1_Frame_Shift_Del_p.GGSGSGGSG245fs|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	278					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGCCCTTGGcgccgctgcccccgcttccgctcccgcccccgccgc	0.729																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(832-858)ggfs		forkhead box A1																																				SO:0001589	frameshift_variant	3169				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	g.chr14:38061131_38061155delGCCGCTGCCCCCGCTTCCGCTCCCG	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.834_858delCGGGAGCGGAAGCGGGGGCAGCGGC	14.37:g.38061131_38061155delGCCGCTGCCCCCGCTTCCGCTCCCG	ENSP00000250448:p.Gly278fs					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Del_p.GGSGSGGSG245fs	p.GGSGSGGSG278fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	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)	2	895_919	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		278					B2R9H6|B7ZAP5|Q9H2A0	Frame_Shift_Del	DEL	ENST00000250448.2	37	c.834_858delCGGGAGCGGAAGCGGGGGCAGCGGC	CCDS9665.1																																																																																				0.729	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			2	4						2	4	---	---	---	---	-	38061155	GCCGCTGCCCCCGCTTCCGCTCCCG	-	38061131	7	5	447	1	0	1	0	1	0	0	0	0	5989	1074	38	0	564	0	FOXA1	14	38061131	Frame_Shift_Del	DEL	GCCGCTGCCCCCGCTTCCGCTCCCG	TCGA-YJ-A8SW-01A-11D-A377-08		38061131	69288409	48	30751											
ZNF770	54989	broad.mit.edu	37	chr15	35275466	35275466	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttttatgacacacatcaCattcaaatggcttttgacca	13	13	6	9	0	2	2	2	2	0	0	2	2	2	2	1	2	0	2	1	2	2	5			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr15:35275466C>A	ENST00000356321.4	-	3	514	c.170G>T	c.(169-171)tGt>tTt	p.C57F		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	57					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			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)		ACACACATCACATTCAAATGG	0.358																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(169-171)tGt>tTt		zinc finger protein 770							78	75	76					15																	35275466		2201	4295	6496	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35275466C>A	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.170G>T	15.37:g.35275466C>A	ENSP00000348673:p.Cys57Phe						p.C57F	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	514	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	57					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.170G>T	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213409	0.58452	.	.	ENSG00000198146	ENST00000356321	D	0.85088	-1.94	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	H	0.96576	3.845	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.96668	0.9494	10	0.87932	D	0	-7.1698	17.5011	0.87732	0.0:1.0:0.0:0.0	.	57	Q6IQ21	ZN770_HUMAN	F	57	ENSP00000348673:C57F	ENSP00000348673:C57F	C	-	2	0	ZNF770	33062758	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.530000	0.81962	2.596000	0.87737	0.655000	0.94253	TGT		0.358	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		41	54	1	0	3.38236e-24	1	3.96696e-24	41	54					A	35275466	C	A	35275466	3	1	447	1	0	0	0	0	1	0	0	0	18140	478	17	5	1909	5	ZNF770	15	35275466	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08		35275466	67255926	49	30752											
WDR72	256764	broad.mit.edu	37	chr15	54015097	54015097	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaccaaataggagttctttCgctgaaatctgaaaataatg	15	12	8	6	1	2	3	0	3	2	0	3	4	2	4	1	1	0	2	1	1	6	4	rs545775155		TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr15:54015097C>T	ENST00000396328.1	-	3	401	c.162G>A	c.(160-162)gcG>gcA	p.A54A	WDR72_ENST00000559418.1_Silent_p.A54A|WDR72_ENST00000557913.1_Silent_p.A54A|WDR72_ENST00000360509.5_Silent_p.A54A	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	54								p.A54A(1)		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)		GGAGTTCTTTCGCTGAAATCT	0.353													C|||	1	0.000199681	8e-04	0	5008	,	,		20229	0		0	False		,,,				2504	0					ENST00000396328.1																			1	Substitution - coding silent(1)	p.A54A(1)	lung(1)	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						c.(160-162)gcG>gcA		WD repeat domain 72							94	91	92					15																	54015097		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:54015097C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.162G>A	15.37:g.54015097C>T						WDR72_ENST00000557913.1_Silent_p.A54A|WDR72_ENST00000360509.5_Silent_p.A54A|WDR72_ENST00000559418.1_Silent_p.A54A	p.A54A	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	3	401	-			54					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.162G>A	CCDS10151.1																																																																																				0.353	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		30	48	0	0	0	1	0	30	48					T	54015097	C	T	54015097	2	4	447	1	0	0	0	0	0	0	0	1	17319	871	31	2		2	WDR72	15	54015097	Silent	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	18739631	54015097	48516295	50	30753											
CA12	771	broad.mit.edu	37	chr15	63638797	63638797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtagccttggaactcgaggGgcgtgaggctggcgtcatac	7	9	16	9	3	1	1	1	1	0	0	2	3	1	2	1	5	3	2	1	5	3	3			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr15:63638797G>T	ENST00000178638.3	-	3	658	c.218C>A	c.(217-219)cCc>cAc	p.P73H	CA12_ENST00000344366.3_Missense_Mutation_p.P73H|CA12_ENST00000422263.2_Intron	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	73					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GAACTCGAGGGGCGTGAGGCT	0.572																																						ENST00000178638.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16						c.(217-219)cCc>cAc		carbonic anhydrase XII	Acetazolamide(DB00819)						161	138	146					15																	63638797		2203	4300	6503	SO:0001583	missense	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63638797G>T	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"Carbonic anhydrases"	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.218C>A	15.37:g.63638797G>T	ENSP00000178638:p.Pro73His					CA12_ENST00000422263.2_Intron|CA12_ENST00000344366.3_Missense_Mutation_p.P73H	p.P73H	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN			3	658	-			73					B2RE24|Q53YE5|Q9BWG2	Missense_Mutation	SNP	ENST00000178638.3	37	c.218C>A	CCDS10185.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598420	0.87055	.	.	ENSG00000074410	ENST00000178638;ENST00000344366	T;T	0.57436	0.4;0.4	5.36	5.36	0.76844	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.099373	0.64402	D	0.000001	T	0.79811	0.4510	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.69824	0.966;0.941	D	0.84750	0.0756	10	0.66056	D	0.02	.	18.0061	0.89210	0.0:0.0:1.0:0.0	.	73;73	O43570-2;O43570	.;CAH12_HUMAN	H	73	ENSP00000178638:P73H;ENSP00000343088:P73H	ENSP00000178638:P73H	P	-	2	0	CA12	61425850	1.000000	0.71417	0.440000	0.26846	0.886000	0.51366	9.604000	0.98317	2.665000	0.90641	0.561000	0.74099	CCC		0.572	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		4	55	1	0	0.014758	1	0.014915	4	55					T	63638797	G	T	63638797	3	4	447	1	0	0	0	0	1	0	0	0	2513	1232	43	5	882	5	CA12	15	63638797	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	9623700	63638797	38892595	51	30754											
RCCD1	91433	broad.mit.edu	37	chr15	91500045	91500045	+	Frame_Shift_Del	DEL	C	C	-																															ctgggctccggacgcgggcgCcaggtgcacagccccagtcc																										TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr15:91500045delC	ENST00000394258.2	+	2	283	c.81delC	c.(79-81)cgcfs	p.R27fs	AC068831.6_ENST00000553321.1_RNA|RCCD1_ENST00000555155.1_Frame_Shift_Del_p.R27fs|RCCD1_ENST00000556618.1_Frame_Shift_Del_p.R27fs|RCCD1_ENST00000556774.1_Intron	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	27						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			GACGCGGGCGCCAGGTGCACA	0.736											OREG0023477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394258.2																			0				breast(1)|kidney(1)|large_intestine(2)	4						c.(79-81)cgfs		RCC1 domain containing 1							6	9	8					15																	91500045		2135	4176	6311	SO:0001589	frameshift_variant	91433							g.chr15:91500045delC		CCDS32333.1	15q26.1	2005-10-21	2005-10-21			ENSG00000166965			30457	protein-coding gene	gene with protein product						12477932	Standard	XM_006720763		Approved	MGC14386	uc002bqk.3	A6NED2		ENST00000394258.2:c.81delC	15.37:g.91500045delC	ENSP00000377801:p.Arg27fs		OREG0023477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1283	RCCD1_ENST00000556774.1_Intron|RCCD1_ENST00000556618.1_Frame_Shift_Del_p.R27fs|RCCD1_ENST00000555155.1_Frame_Shift_Del_p.R27fs	p.R27fs	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	Lung(145;0.189)		2	283	+	Lung NSC(78;0.0987)|all_lung(78;0.175)		27					B2RTP9|Q29RX6	Frame_Shift_Del	DEL	ENST00000394258.2	37	c.81delC	CCDS32333.1																																																																																				0.736	RCCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414748.1	NM_033544		2	4						2	4	---	---	---	---	-	91500045	C	-	91500045	7	5	447	1	0	1	0	1	0	0	0	0	13175	726	26	0	83	0	RCCD1	15	91500045	Frame_Shift_Del	DEL	C	TCGA-YJ-A8SW-01A-11D-A377-08	27861248	91500045	11031347	52	30755											
SPN	6693	broad.mit.edu	37	chr16	29675595	29675595	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagacttccaaaggcacCtctggaccccctgttaccat	9	9	8	15	0	1	1	0	0	1	1	2	3	2	2	5	3	1	2	5	3	2	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr16:29675595C>A	ENST00000360121.3	+	2	638	c.546C>A	c.(544-546)acC>acA	p.T182T	SPN_ENST00000395389.2_Silent_p.T182T	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CCAAAGGCACCTCTGGACCCC	0.592																																						ENST00000360121.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						c.(544-546)acC>acA		sialophorin							107	116	113					16																	29675595		2197	4300	6497	SO:0001819	synonymous_variant	0				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	g.chr16:29675595C>A	J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"CD molecules"	11249	protein-coding gene	gene with protein product	"leukosialin"	182160	"sialophorin (gpL115, leukosialin, CD43)"			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.546C>A	16.37:g.29675595C>A						SPN_ENST00000395389.2_Silent_p.T182T|AC009133.19_ENST00000449759.1_Intron	p.T182T	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN			2	638	+			182					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Silent	SNP	ENST00000360121.3	37	c.546C>A	CCDS10650.1																																																																																				0.592	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2			41	145	1	0	7.63091e-17	1	8.52867e-17	41	145					A	29675595	C	A	29675595	2	1	447	1	0	0	0	0	0	0	0	1	15072	668	24	5		5	SPN	16	29675595	Silent	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08		29675595	60679158	53	30756											
FOXL1	2300	broad.mit.edu	37	chr16	86612462	86612462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagctgcctcgggccgggccGagaccccgcagaagcctccc	6	4	13	18	4	0	2	0	0	0	2	2	3	1	2	7	2	3	2	7	2	2	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr16:86612462G>A	ENST00000320241.3	+	1	348	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	45					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						GGGCCGGGCCGAGACCCCGCA	0.687																																					NSCLC(163;308 2020 10889 11476 18208)	ENST00000320241.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						c.(133-135)Gag>Aag		forkhead box L1							34	38	37					16																	86612462		2198	4300	6498	SO:0001583	missense	2300				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	g.chr16:86612462G>A	AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"Forkhead boxes"	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.133G>A	16.37:g.86612462G>A	ENSP00000326272:p.Glu45Lys						p.E45K	NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN			1	348	+			45					Q17RR1|Q9H242	Missense_Mutation	SNP	ENST00000320241.3	37	c.133G>A	CCDS10959.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068997	0.36470	.	.	ENSG00000176678	ENST00000320241	D	0.93859	-3.3	4.1	4.1	0.47936	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.38778	U	0.001566	D	0.84768	0.5545	N	0.19112	0.55	0.49389	D	0.99978	B	0.31077	0.307	B	0.23716	0.048	T	0.82561	-0.0396	10	0.06236	T	0.91	.	15.4842	0.75551	0.0:0.0:1.0:0.0	.	45	Q12952	FOXL1_HUMAN	K	45	ENSP00000326272:E45K	ENSP00000326272:E45K	E	+	1	0	FOXL1	85169963	1.000000	0.71417	0.997000	0.53966	0.153000	0.21895	5.341000	0.65964	2.115000	0.64714	0.462000	0.41574	GAG		0.687	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2	NM_005250		14	29	0	0	0	1	0	14	29					A	86612462	G	A	86612462	3	1	447	1	0	0	0	0	1	0	0	0	6016	1059	37	2	135	2	FOXL1	16	86612462	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	56936867	86612462	3742291	54	30757											
MYH8	4626	broad.mit.edu	37	chr17	10296458	10296458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgtgattcttggattacttCttccacttcactttggagtt	6	18	8	9	1	3	1	1	1	2	0	4	3	4	3	1	2	1	1	1	2	1	8			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr17:10296458C>T	ENST00000403437.2	-	36	5330	c.5236G>A	c.(5236-5238)Gaa>Aaa	p.E1746K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1746					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGGATTACTTCTTCCACTTCA	0.393									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5236-5238)Gaa>Aaa		myosin, heavy chain 8, skeletal muscle, perinatal							309	269	282					17																	10296458		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10296458C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5236G>A	17.37:g.10296458C>T	ENSP00000384330:p.Glu1746Lys					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.E1746K	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			36	5330	-			1746					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5236G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495441	0.85069	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.85955	-2.05	5.21	5.21	0.72293	Myosin tail (1);	0.196487	0.24518	U	0.037825	D	0.94023	0.8085	H	0.96239	3.79	0.58432	D	0.999992	P	0.40970	0.734	P	0.52386	0.697	D	0.95272	0.8378	10	0.87932	D	0	.	18.947	0.92626	0.0:1.0:0.0:0.0	.	1746	P13535	MYH8_HUMAN	K	1746	ENSP00000384330:E1746K	ENSP00000252173:E1746K	E	-	1	0	MYH8	10237183	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	7.573000	0.82421	2.712000	0.92718	0.585000	0.79938	GAA		0.393	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		45	184	0	0	0	1	0	45	184					T	10296458	C	T	10296458	3	4	447	1	0	0	0	0	1	0	0	0	10041	922	32	3	597	3	MYH8	17	10296458	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08		10296458	70898752	55	30758											
PLXDC1	57125	broad.mit.edu	37	chr17	37243903	37243903	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgacatgctggtgaccttGctggggtccagctctatgcg	5	10	14	12	2	1	1	0	1	1	0	2	2	2	1	3	3	4	3	3	3	1	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr17:37243903G>A	ENST00000315392.4	-	8	1075	c.864C>T	c.(862-864)agC>agT	p.S288S	PLXDC1_ENST00000539608.1_Silent_p.S215S|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.S248S|PLXDC1_ENST00000394316.2_Silent_p.S288S	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	288					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGGTGACCTTGCTGGGGTCCA	0.557																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(862-864)agC>agT		plexin domain containing 1							98	74	82					17																	37243903		2203	4300	6503	SO:0001819	synonymous_variant	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37243903G>A	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"tumor endothelial marker 7 precursor"	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.864C>T	17.37:g.37243903G>A						PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_Silent_p.S215S|PLXDC1_ENST00000394316.2_Silent_p.S288S|PLXDC1_ENST00000444911.2_Silent_p.S248S	p.S288S	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			8	1075	-			288					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	ENST00000315392.4	37	c.864C>T	CCDS11333.1																																																																																				0.557	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		7	22	0	0	0	1	0	7	22					A	37243903	G	A	37243903	2	1	447	1	0	0	0	0	0	0	0	1	12117	1310	46	3		3	PLXDC1	17	37243903	Silent	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	26947445	37243903	43951307	56	30759											
FTSJ3	11325	broad.mit.edu	37	chr17	61898979	61898985	+	IGR	DEL	CGTCCTC	CGTCCTC	-																															ctccagggcctcatcggcatCgtcctcgatcccagcaaagc																										TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr17:61898979_61898985delCGTCCTC	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Frame_Shift_Del_p.EDD539fs	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TCATCGGCATCGTCCTCGATCCCAGCA	0.599																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1615-1623)atfs		FtsJ homolog 3 (E. coli)																																				SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61898979_61898985delCGTCCTC	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61898979_61898985delCGTCCTC							p.EDD539fs	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			16	2260_2266	-			539					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Frame_Shift_Del	DEL	ENST00000578681.1	37	c.1615_1621delGAGGACG	CCDS32704.1																																																																																				0.599	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		78	83						78	83	---	---	---	---	-	61898985	CGTCCTC	-	61898979	6	5	447	0	1	1	0	1	0	0	0	0	6089	884	31	0		0	FTSJ3	17	61898979	IGR	DEL	CGTCCTC	TCGA-YJ-A8SW-01A-11D-A377-08	24655076	61898979	19296231	57	30760											
ABCA8	10351	broad.mit.edu	37	chr17	66902187	66902187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcatgcattttatttacccGattcattaattgtagatttt	10	21	4	6	1	2	1	2	0	0	1	2	2	2	1	1	0	2	2	1	0	4	11	rs370259792		TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr17:66902187G>A	ENST00000269080.2	-	17	2413	c.2276C>T	c.(2275-2277)tCg>tTg	p.S759L	ABCA8_ENST00000430352.2_Missense_Mutation_p.S799L|ABCA8_ENST00000586539.1_Missense_Mutation_p.S799L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	759					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTATTTACCCGATTCATTAAT	0.328																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(2275-2277)tCg>tTg		ATP-binding cassette, sub-family A (ABC1), member 8		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	118	119	119		2276	3.4	0.7	17		119	0,8594		0,0,4297	no	missense	ABCA8	NM_007168.2	145	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	759/1582	66902187	1,12999	2203	4297	6500	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66902187G>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2276C>T	17.37:g.66902187G>A	ENSP00000269080:p.Ser759Leu					ABCA8_ENST00000430352.2_Missense_Mutation_p.S799L|ABCA8_ENST00000586539.1_Missense_Mutation_p.S799L	p.S759L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			17	2413	-	Breast(10;4.56e-13)		759					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.2276C>T	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760474	0.31137	2.27E-4	0.0	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.86627	-2.15;-2.12	5.38	3.42	0.39159	.	0.454373	0.18561	N	0.137613	D	0.82614	0.5075	M	0.66939	2.045	0.20638	N	0.999878	B;B;B;B;B	0.15719	0.012;0.014;0.002;0.001;0.003	B;B;B;B;B	0.12837	0.008;0.006;0.002;0.003;0.002	T	0.70428	-0.4874	10	0.35671	T	0.21	.	5.0405	0.14456	0.1701:0.0:0.6642:0.1657	.	738;799;799;799;759	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	L	759;799;738	ENSP00000269080:S759L;ENSP00000402814:S799L	ENSP00000269080:S759L	S	-	2	0	ABCA8	64413782	1.000000	0.71417	0.692000	0.30179	0.808000	0.45660	2.063000	0.41423	0.849000	0.35215	-0.137000	0.14449	TCG		0.328	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		29	57	0	0	0	1	0	29	57					A	66902187	G	A	66902187	3	1	447	1	0	0	0	0	1	0	0	0	38	1059	37	2	2557	2	ABCA8	17	66902187	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	5003208	66902187	14293023	58	30761											
POLI	11201	broad.mit.edu	37	chr18	51807169	51807169	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctaataaactgttggCaaaattagtttctggtgtct	10	16	9	6	0	3	0	0	0	3	0	3	0	3	0	0	3	1	4	0	3	6	6			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr18:51807169C>G	ENST00000579534.1	+	5	835	c.692C>G	c.(691-693)gCa>gGa	p.A231G	POLI_ENST00000406285.3_Intron|POLI_ENST00000579434.1_Missense_Mutation_p.A128G|POLI_ENST00000217800.5_Missense_Mutation_p.A105G	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	231	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAACTGTTGGCAAAATTAGTT	0.388								DNA polymerases (catalytic subunits)																														ENST00000579534.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(691-693)gCa>gGa	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota							114	115	115					18																	51807169		2203	4300	6503	SO:0001583	missense	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51807169C>G		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"DNA polymerases"	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.692C>G	18.37:g.51807169C>G	ENSP00000462664:p.Ala231Gly					POLI_ENST00000406285.3_Intron|POLI_ENST00000579434.1_Missense_Mutation_p.A128G|POLI_ENST00000217800.5_Missense_Mutation_p.A105G	p.A231G	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	5	835	+			231			UmuC.		Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	c.692C>G	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841041	0.51057	.	.	ENSG00000101751	ENST00000217800	.	.	.	5.72	5.72	0.89469	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.109583	0.64402	D	0.000006	D	0.86222	0.5881	H	0.98577	4.27	0.80722	D	1	P	0.51653	0.947	P	0.53360	0.724	D	0.90958	0.4810	9	0.72032	D	0.01	-25.0491	17.1548	0.86788	0.0:1.0:0.0:0.0	.	231	Q9UNA4	POLI_HUMAN	G	231	.	ENSP00000217800:A231G	A	+	2	0	POLI	50061167	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.647000	0.74354	2.857000	0.98124	0.650000	0.86243	GCA		0.388	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		39	48	0	0	0	1	0	39	48					G	51807169	C	G	51807169	3	3	447	1	0	0	0	0	1	0	0	0	12203	710	25	5	710	5	POLI	18	51807169	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08		51807169	26270079	59	30762											
APC2	10297	broad.mit.edu	37	chr19	1465241	1465241	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtgagcaacgcgtgcggCacgctctggaacctgtcggc	7	7	14	13	6	1	1	0	1	1	0	3	2	1	2	1	3	4	3	1	3	2	0			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:1465241C>T	ENST00000535453.1	+	14	3654	c.1941C>T	c.(1939-1941)ggC>ggT	p.G647G	APC2_ENST00000233607.2_Silent_p.G647G|APC2_ENST00000238483.4_Silent_p.G373G|CTB-25B13.12_ENST00000588225.1_RNA|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCGTGCGGCACGCTCTGGA	0.647																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(1939-1941)ggC>ggT		adenomatosis polyposis coli 2							23	20	21					19																	1465241		2190	4292	6482	SO:0001819	synonymous_variant	10297				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	g.chr19:1465241C>T		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1941C>T	19.37:g.1465241C>T						C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Silent_p.G373G|APC2_ENST00000233607.2_Silent_p.G647G	p.G647G			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	3654	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	647					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.1941C>T	CCDS12068.1																																																																																				0.647	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		4	4	0	0	0	1	0	4	4					T	1465241	C	T	1465241	2	4	447	1	0	0	0	0	0	0	0	1	764	697	25	3		3	APC2	19	1465241	Silent	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08		1465241	57663742	60	30763											
KIAA1683	80726	broad.mit.edu	37	chr19	18368186	18368186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggactggatggctgtggccGctttgtcctggcgatgcggc	3	10	17	11	4	0	0	0	0	0	0	1	3	1	2	2	6	1	2	2	6	0	1	rs141700088		TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:18368186G>A	ENST00000600328.3	-	4	3540	c.3347C>T	c.(3346-3348)gCg>gTg	p.A1116V	KIAA1683_ENST00000392413.4_Missense_Mutation_p.A1303V|PDE4C_ENST00000355502.3_5'Flank|KIAA1683_ENST00000600359.3_Missense_Mutation_p.A1070V|PDE4C_ENST00000596647.1_5'Flank			Q9H0B3	K1683_HUMAN	KIAA1683	1116	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGCTGTGGCCGCTTTGTCCTG	0.662													G|||	1	0.000199681	8e-04	0	5008	,	,		15361	0		0	False		,,,				2504	0					ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3907-3909)gCg>gTg		KIAA1683		G	VAL/ALA,VAL/ALA,VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	41	39	40		3908,3209,3347	4.6	0.1	19	dbSNP_134	40	2,8596	2.2+/-6.3	0,2,4297	yes	missense,missense,missense	KIAA1683	NM_001145304.1,NM_001145305.1,NM_025249.3	64,64,64	0,5,6497	AA,AG,GG		0.0233,0.0681,0.0384	probably-damaging,probably-damaging,probably-damaging	1303/1368,1070/1135,1116/1181	18368186	5,12999	2203	4299	6502	SO:0001583	missense	80726					mitochondrion		g.chr19:18368186G>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.3347C>T	19.37:g.18368186G>A	ENSP00000470780:p.Ala1116Val					KIAA1683_ENST00000600328.2_Missense_Mutation_p.A1116V|KIAA1683_ENST00000600359.2_Missense_Mutation_p.A1070V	p.A1303V	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			4	4123	-			106					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.3908C>T	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951682	0.73787	6.81E-4	2.33E-4	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000358422;ENST00000411671	T;T;T	0.46063	0.88;0.88;0.88	4.63	4.63	0.57726	.	0.000000	0.37530	N	0.002054	T	0.68778	0.3038	M	0.89785	3.06	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	T	0.64339	-0.6431	10	0.49607	T	0.09	-26.903	12.9892	0.58608	0.0:0.0:1.0:0.0	.	1303;1116	E9PDE0;Q9H0B3	.;K1683_HUMAN	V	1303;1116;1070;380;501;730	ENSP00000376213:A1303V;ENSP00000352774:A1116V;ENSP00000404501:A1070V	ENSP00000351198:A501V	A	-	2	0	KIAA1683	18229186	0.967000	0.33354	0.088000	0.20740	0.025000	0.11179	4.745000	0.62125	2.119000	0.64992	0.462000	0.41574	GCG		0.662	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			13	33	0	0	0	1	0	13	33					A	18368186	G	A	18368186	3	1	447	1	0	0	0	0	1	0	0	0	8251	1087	38	1	199	1	KIAA1683	19	18368186	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	16902945	18368186	40760797	61	30764											
LRFN1	57622	broad.mit.edu	37	chr19	39804777	39804777	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggctcggtgagaggcggCggggcagccggcgggggtgc	3	3	24	11	6	0	1	0	1	0	1	1	2	0	1	2	9	2	2	2	9	0	0			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:39804777C>T	ENST00000248668.4	-	1	1199	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	400						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGAGAGGCGGCGGGGCAGCCG	0.692																																						ENST00000248668.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1198-1200)ccG>ccA		leucine rich repeat and fibronectin type III domain containing 1							11	16	14					19																	39804777		2034	4141	6175	SO:0001819	synonymous_variant	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39804777C>T	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1200G>A	19.37:g.39804777C>T							p.P400P	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	1199	-	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)		400					Q8TBS9	Silent	SNP	ENST00000248668.4	37	c.1200G>A	CCDS46071.1																																																																																				0.692	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		3	35	0	0	0	1	0	3	35					T	39804777	C	T	39804777	2	4	447	1	0	0	0	0	0	0	0	1	8937	755	27	1		1	LRFN1	19	39804777	Silent	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	21436591	39804777	19324206	62	30765											
ZNF175	7728	broad.mit.edu	37	chr19	52090595	52090595	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatataccctgtatatgCaaggaatgtgggaaggtctt	11	12	13	5	0	1	1	0	1	1	0	1	3	1	3	1	4	2	2	1	4	7	5			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:52090595C>G	ENST00000262259.2	+	5	1369	c.1011C>G	c.(1009-1011)tgC>tgG	p.C337W	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	337					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CCTGTATATGCAAGGAATGTG	0.408																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1009-1011)tgC>tgG		zinc finger protein 175							88	87	87					19																	52090595		2203	4300	6503	SO:0001583	missense	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090595C>G	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"Zinc fingers, C2H2-type", "-"	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1011C>G	19.37:g.52090595C>G	ENSP00000262259:p.Cys337Trp					ZNF175_ENST00000436511.2_Intron	p.C337W	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1369	+		all_neural(266;0.0299)	337					A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	c.1011C>G	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	C	7.471	0.646707	0.14516	.	.	ENSG00000105497	ENST00000262259	T	0.37058	1.22	2.3	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.66157	0.2761	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64774	-0.6328	9	0.87932	D	0	.	5.2267	0.15399	0.0:0.1688:0.0:0.8312	.	337	Q9Y473	ZN175_HUMAN	W	337	ENSP00000262259:C337W	ENSP00000262259:C337W	C	+	3	2	ZNF175	56782407	0.000000	0.05858	0.939000	0.37840	0.318000	0.28184	-0.926000	0.03988	0.340000	0.23745	-0.471000	0.05019	TGC		0.408	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		13	48	0	0	0	1	0	13	48					G	52090595	C	G	52090595	3	3	447	1	0	0	0	0	1	0	0	0	17742	718	25	5	1025	5	ZNF175	19	52090595	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	12285818	52090595	7038388	63	30766											
ZNF347	84671	broad.mit.edu	37	chr19	53643640	53643640	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacatttgtaaggtttcccaCcagtatggattgtctgatgg	9	15	10	7	0	1	1	0	1	1	0	2	2	2	2	2	3	1	3	2	3	3	6			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:53643640C>A	ENST00000334197.7	-	5	2509	c.2441G>T	c.(2440-2442)gGt>gTt	p.G814V	ZNF347_ENST00000452676.2_Missense_Mutation_p.G815V|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.G815V	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	814					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGGTTTCCCACCAGTATGGAT	0.418																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2443-2445)gGt>gTt		zinc finger protein 347							182	179	180					19																	53643640		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53643640C>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2441G>T	19.37:g.53643640C>A	ENSP00000334146:p.Gly814Val					ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.G815V|ZNF347_ENST00000334197.7_Missense_Mutation_p.G814V	p.G815V	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2870	-			814					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2444G>T	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307407	0.40795	.	.	ENSG00000197937	ENST00000334197;ENST00000452676;ENST00000436933	T;T	0.21361	2.01;2.01	2.37	-2.17	0.07059	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32406	0.0828	M	0.68728	2.09	0.44966	D	0.997989	P;D	0.76494	0.797;0.999	B;D	0.64237	0.14;0.923	T	0.32241	-0.9914	9	0.87932	D	0	.	3.9593	0.09404	0.1764:0.5744:0.0:0.2492	.	815;814	G5E9N4;Q96SE7	.;ZN347_HUMAN	V	814;815;71	ENSP00000334146:G814V;ENSP00000405218:G815V	ENSP00000334146:G814V	G	-	2	0	ZNF347	58335452	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.596000	0.24044	-0.516000	0.06470	-0.378000	0.06908	GGT		0.418	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		66	154	1	0	2.54232e-27	1	3.019e-27	66	154					A	53643640	C	A	53643640	3	1	447	1	0	0	0	0	1	0	0	0	17858	507	18	5	82	5	ZNF347	19	53643640	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	1553045	53643640	5485343	64	30767											
ZNF665	79788	broad.mit.edu	37	chr19	53668835	53668835	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcgatgacttgcaaggtgtGaattttgagtgaagcacttg	10	14	12	5	1	0	4	0	4	0	0	1	5	0	4	0	1	2	2	0	1	3	5			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:53668835G>C	ENST00000600412.1	-	2	828	c.713C>G	c.(712-714)tCa>tGa	p.S238*	ZNF665_ENST00000396424.3_Nonsense_Mutation_p.S303*|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGCAAGGTGTGAATTTTGAGT	0.423																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(712-714)tCa>tGa		zinc finger protein 665							126	135	132					19																	53668835		2203	4300	6503	SO:0001587	stop_gained	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668835G>C		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.713C>G	19.37:g.53668835G>C	ENSP00000469154:p.Ser238*					ZNF665_ENST00000396424.3_Nonsense_Mutation_p.S303*	p.S238*			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	828	-			238					A8K5T8	Nonsense_Mutation	SNP	ENST00000600412.1	37	c.713C>G		.	.	.	.	.	.	.	.	.	.	G	17.17	3.322529	0.60634	.	.	ENSG00000197497	ENST00000396424	.	.	.	2.24	2.24	0.28232	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	11.5351	0.50633	0.0:0.0:1.0:0.0	.	.	.	.	X	303	.	ENSP00000379702:S303X	S	-	2	0	ZNF665	58360647	0.000000	0.05858	0.006000	0.13384	0.061000	0.15899	-0.200000	0.09478	1.242000	0.43836	0.436000	0.28706	TCA		0.423	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		52	179	0	0	0	1	0	52	179					C	53668835	G	C	53668835	4	2	447	1	0	0	0	0	0	1	0	0	18070	1294	45	5	1132	5	ZNF665	19	53668835	Nonsense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	25195	53668835	5460148	65	30768											
NCR1	9437	broad.mit.edu	37	chr19	55418146	55418146	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcagagcccagcaacttGctggatctggtggtaacagg	9	9	14	9	0	2	1	1	0	1	1	2	2	2	2	1	5	5	3	1	5	2	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:55418146G>C	ENST00000291890.4	+	3	374	c.336G>C	c.(334-336)ttG>ttC	p.L112F	NCR1_ENST00000338835.5_Missense_Mutation_p.L112F|NCR1_ENST00000598576.1_Missense_Mutation_p.L100F|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.L112F|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000594765.1_Missense_Mutation_p.L112F	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	112	Ig-like 1.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCAGCAACTTGCTGGATCTGG	0.522																																						ENST00000594765.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(334-336)ttG>ttC		natural cytotoxicity triggering receptor 1							75	82	80					19																	55418146		2203	4300	6503	SO:0001583	missense	9437				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	g.chr19:55418146G>C	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.336G>C	19.37:g.55418146G>C	ENSP00000291890:p.Leu112Phe					NCR1_ENST00000291890.4_Missense_Mutation_p.L112F|NCR1_ENST00000598576.1_Missense_Mutation_p.L100F|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.L112F|NCR1_ENST00000338835.5_Missense_Mutation_p.L112F|NCR1_ENST00000350790.5_Intron	p.L112F			O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	3	361	+			112			Ig-like 1.		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.336G>C	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	G	8.978	0.974734	0.18736	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835	T;T;T	0.12774	2.65;2.65;2.65	3.74	-2.93	0.05598	Immunoglobulin-like fold (1);	0.785212	0.11163	N	0.592885	T	0.05593	0.0147	N	0.08118	0	0.09310	N	1	B;B;B	0.26318	0.146;0.04;0.088	B;B;B	0.28305	0.088;0.068;0.088	T	0.34900	-0.9810	10	0.87932	D	0	.	2.5603	0.04770	0.1496:0.4159:0.3075:0.127	.	112;112;112	B0V3L5;O76036-6;O76036	.;.;NCTR1_HUMAN	F	112	ENSP00000291890:L112F;ENSP00000404434:L112F;ENSP00000339515:L112F	ENSP00000291890:L112F	L	+	3	2	NCR1	60109958	0.037000	0.19845	0.003000	0.11579	0.001000	0.01503	-0.180000	0.09754	-0.448000	0.07128	-1.186000	0.01703	TTG		0.522	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			23	93	0	0	0	1	0	23	93					C	55418146	G	C	55418146	3	2	447	1	0	0	0	0	1	0	0	0	10237	1310	46	5	346	5	NCR1	19	55418146	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	1749311	55418146	3710837	66	30769											
TRIM28	10155	broad.mit.edu	37	chr19	59061121	59061121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagggaggagtggagctgctCactctgccatgtgctccctg	6	10	14	11	0	2	0	1	0	1	0	3	3	3	3	2	3	4	3	2	3	1	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:59061121C>T	ENST00000253024.5	+	14	2289	c.2000C>T	c.(1999-2001)tCa>tTa	p.S667L	TRIM28_ENST00000341753.6_Missense_Mutation_p.S585L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	667					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGGAGCTGCTCACTCTGCCAT	0.592																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(1999-2001)tCa>tTa		tripartite motif containing 28							141	132	135					19																	59061121		2203	4300	6503	SO:0001583	missense	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59061121C>T		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	16384	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 157"	601742	"tripartite motif-containing 28"			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.2000C>T	19.37:g.59061121C>T	ENSP00000253024:p.Ser667Leu					TRIM28_ENST00000341753.6_Missense_Mutation_p.S585L	p.S667L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		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)	14	2289	+		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)	667					O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	c.2000C>T	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109153	0.56398	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	D;D	0.84873	-1.91;-1.91	4.55	4.55	0.56014	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.331836	0.21359	N	0.075828	D	0.85894	0.5803	N	0.17800	0.525	0.36388	D	0.862359	D;D;D	0.65815	0.994;0.974;0.995	D;D;D	0.72625	0.962;0.937;0.978	D	0.89069	0.3468	10	0.87932	D	0	-12.288	13.0711	0.59061	0.0:1.0:0.0:0.0	.	585;667;667	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	L	667;585	ENSP00000253024:S667L;ENSP00000342232:S585L	ENSP00000253024:S667L	S	+	2	0	TRIM28	63752933	0.994000	0.37717	0.994000	0.49952	0.992000	0.81027	2.851000	0.48302	2.556000	0.86216	0.436000	0.28706	TCA		0.592	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		53	73	0	0	0	1	0	53	73					T	59061121	C	T	59061121	3	4	447	1	0	0	0	0	1	0	0	0	16499	838	29	3	2054	3	TRIM28	19	59061121	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	3642975	59061121	67862	67	30770											
GGTLC1	92086	broad.mit.edu	37	chr20	23966333	23966333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctctccactgtcgtgaCgttgggcagaagctggttgt	5	14	13	9	2	1	2	0	1	1	1	4	2	2	2	1	2	1	5	1	2	1	3			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr20:23966333C>T	ENST00000335694.4	-	5	706	c.502G>A	c.(502-504)Gtc>Atc	p.V168I	GGTLC1_ENST00000286890.4_Missense_Mutation_p.V168I|GGTLC1_ENST00000278765.4_Missense_Mutation_p.V168I	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	168					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						ACTGTCGTGACGTTGGGCAGA	0.622																																						ENST00000335694.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(502-504)Gtc>Atc		gamma-glutamyltransferase light chain 1							52	56	55					20																	23966333		2203	4295	6498	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23966333C>T	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"Gamma-glutamyltransferases"	16437	protein-coding gene	gene with protein product		612338	"gamma-glutamyltransferase-like activity 4", "gamma-glutamyltransferase-like activity 3"	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.502G>A	20.37:g.23966333C>T	ENSP00000337587:p.Val168Ile					GGTLC1_ENST00000278765.4_Missense_Mutation_p.V168I|GGTLC1_ENST00000286890.4_Missense_Mutation_p.V168I	p.V168I	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			5	706	-			168					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.502G>A	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	c	8.247	0.808226	0.16467	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.07216	3.21;3.21;3.21	0.844	-0.674	0.11369	.	0.521291	0.20854	N	0.084474	T	0.04815	0.0130	L	0.28504	0.86	0.19775	N	0.999956	B	0.12630	0.006	B	0.10450	0.005	T	0.32561	-0.9902	10	0.36615	T	0.2	-16.2118	3.4434	0.07472	0.0:0.3417:0.0:0.6583	.	168	Q9BX51	GGTL1_HUMAN	I	168	ENSP00000286890:V168I;ENSP00000278765:V168I;ENSP00000337587:V168I	ENSP00000278765:V168I	V	-	1	0	GGTLC1	23914333	0.523000	0.26274	0.369000	0.25952	0.371000	0.29859	0.204000	0.17335	0.088000	0.17205	0.089000	0.15464	GTC		0.622	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		16	65	0	0	0	1	0	16	65					T	23966333	C	T	23966333	3	4	447	1	0	0	0	0	1	0	0	0	6365	536	19	1	183	1	GGTLC1	20	23966333	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08		23966333	39059187	68	30771											
GINS1	9837	broad.mit.edu	37	chr20	25388520	25388520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgcgcccgaagggcaactgCctgccttcaacgtgaggggc	7	5	15	14	4	1	1	1	1	0	0	1	2	1	1	3	3	4	1	3	3	3	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr20:25388520C>T	ENST00000262460.4	+	1	158	c.64C>T	c.(64-66)Cct>Tct	p.P22S	GINS1_ENST00000484893.1_3'UTR|GINS1_ENST00000429262.2_Missense_Mutation_p.P22S	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	22					DNA strand elongation involved in DNA replication (GO:0006271)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						AGGGCAACTGCCTGCCTTCAA	0.677																																						ENST00000262460.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						c.(64-66)Cct>Tct		GINS complex subunit 1 (Psf1 homolog)							32	29	30					20																	25388520		2202	4300	6502	SO:0001583	missense	9837				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		g.chr20:25388520C>T	BC012542	CCDS33451.1	20p11.21	2006-05-04			ENSG00000101003	ENSG00000101003			28980	protein-coding gene	gene with protein product		610608				8724849, 8786132	Standard	NM_021067		Approved	KIAA0186, PSF1	uc002wuv.1	Q14691	OTTHUMG00000032124	ENST00000262460.4:c.64C>T	20.37:g.25388520C>T	ENSP00000262460:p.Pro22Ser					GINS1_ENST00000429262.2_Missense_Mutation_p.P22S|GINS1_ENST00000484893.1_3'UTR	p.P22S	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN			1	158	+			22					Q9NQE2|Q9NQI7	Missense_Mutation	SNP	ENST00000262460.4	37	c.64C>T	CCDS33451.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684521	0.68157	.	.	ENSG00000101003	ENST00000262460;ENST00000429262	T;T	0.58940	0.3;0.3	4.02	4.02	0.46733	.	0.117105	0.64402	D	0.000015	T	0.59088	0.2168	M	0.74647	2.275	0.58432	D	0.999999	P	0.36599	0.56	B	0.37047	0.24	T	0.64960	-0.6284	10	0.42905	T	0.14	-3.8974	15.4342	0.75133	0.0:1.0:0.0:0.0	.	22	Q14691	PSF1_HUMAN	S	22	ENSP00000262460:P22S;ENSP00000408669:P22S	ENSP00000262460:P22S	P	+	1	0	GINS1	25336520	1.000000	0.71417	0.990000	0.47175	0.942000	0.58702	4.905000	0.63286	2.228000	0.72767	0.563000	0.77884	CCT		0.677	GINS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078433.1	NM_021067		7	22	0	0	0	1	0	7	22					T	25388520	C	T	25388520	3	4	447	1	0	0	0	0	1	0	0	0	6387	739	26	3	66	3	GINS1	20	25388520	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	1422187	25388520	37637000	69	30772											
BPIL3	128859	broad.mit.edu	37	chr20	31622051	31622051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaactttgtacctggagtggGcatcttccaatgtgtgtcca	8	13	11	9	0	1	0	0	0	1	0	3	2	3	1	3	2	2	2	3	2	3	3			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr20:31622051G>A	ENST00000349552.1	+	3	257	c.257G>A	c.(256-258)gGc>gAc	p.G86D		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	86						extracellular region (GO:0005576)	lipid binding (GO:0008289)										CCTGGAGTGGGCATCTTCCAA	0.572																																						ENST00000349552.1																			0											c.(256-258)gGc>gAc		BPI fold containing family B, member 6							183	142	156					20																	31622051		2203	4300	6503	SO:0001583	missense	128859					extracellular region	lipid binding	g.chr20:31622051G>A	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"BPI fold containing"	16504	protein-coding gene	gene with protein product		614110	"bactericidal/permeability-increasing protein-like 3"	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.257G>A	20.37:g.31622051G>A	ENSP00000344929:p.Gly86Asp						p.G86D	NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN			3	257	+			86						Missense_Mutation	SNP	ENST00000349552.1	37	c.257G>A	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092834	0.76756	.	.	ENSG00000167104	ENST00000349552	T	0.08720	3.06	4.7	4.7	0.59300	.	0.000000	0.56097	D	0.000026	T	0.27967	0.0689	M	0.74881	2.28	0.44149	D	0.996943	D	0.89917	1.0	D	0.91635	0.999	T	0.01409	-1.1362	10	0.66056	D	0.02	.	13.1161	0.59301	0.0:0.0:1.0:0.0	.	86	Q8NFQ5	BPIB6_HUMAN	D	86	ENSP00000344929:G86D	ENSP00000344929:G86D	G	+	2	0	BPIFB6	31085712	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.939000	0.63526	2.146000	0.66826	0.561000	0.74099	GGC		0.572	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		4	173	0	0	0	1	0	4	173					A	31622051	G	A	31622051	3	1	447	1	0	0	0	0	1	0	0	0	1493	1203	42	3	267	3	BPIL3	20	31622051	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	6233531	31622051	31403469	70	30773											
WFDC3	140686	broad.mit.edu	37	chr20	44405729	44405729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catacctccctcaatgtctcCgaggcaggtgcggccacagc	8	7	10	16	2	2	0	1	0	1	0	4	1	3	0	4	3	3	1	4	3	2	1	rs547766679	byFrequency	TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr20:44405729C>T	ENST00000243938.4	-	5	561	c.478G>A	c.(478-480)Gga>Aga	p.G160R	RNU6ATAC38P_ENST00000408119.1_RNA|WFDC3_ENST00000372630.2_Intron|WFDC3_ENST00000481847.1_Intron|WFDC3_ENST00000372632.2_Intron	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	160	WAP 3. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				TCAATGTCTCCGAGGCAGGTG	0.567													C|||	6	0.00119808	0	0	5008	,	,		14071	0		0	False		,,,				2504	0.0061					ENST00000243938.4																			0				endometrium(1)|large_intestine(3)|prostate(1)	5						c.(478-480)Gga>Aga		WAP four-disulfide core domain 3							58	53	55					20																	44405729		2203	4300	6503	SO:0001583	missense	140686					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44405729C>T	AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"WAP four-disulfide core domain containing"	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.478G>A	20.37:g.44405729C>T	ENSP00000243938:p.Gly160Arg					WFDC3_ENST00000372630.2_Intron|WFDC3_ENST00000372632.2_Intron|WFDC3_ENST00000481847.1_Intron	p.G160R	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN			5	561	-		Myeloproliferative disorder(115;0.0122)	160			WAP 3.		A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Missense_Mutation	SNP	ENST00000243938.4	37	c.478G>A	CCDS33478.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225086	0.39300	.	.	ENSG00000124116	ENST00000243938	T	0.21734	1.99	4.4	3.45	0.39498	Whey acidic protein, 4-disulphide core (2);	0.000000	0.39407	N	0.001374	T	0.33469	0.0864	L	0.48362	1.52	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02942	-1.1091	10	0.30078	T	0.28	-5.7295	8.5067	0.33193	0.0:0.8935:0.0:0.1065	.	160	Q8IUB2	WFDC3_HUMAN	R	160	ENSP00000243938:G160R	ENSP00000243938:G160R	G	-	1	0	WFDC3	43839136	0.694000	0.27738	0.941000	0.38009	0.910000	0.53928	1.089000	0.30890	1.228000	0.43614	0.655000	0.94253	GGA		0.567	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1			20	21	0	0	0	1	0	20	21					T	44405729	C	T	44405729	3	4	447	1	0	0	0	0	1	0	0	0	17350	661	23	2	229	2	WFDC3	20	44405729	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	12783678	44405729	18619791	71	30774											
U2AF1	7307	broad.mit.edu	37	chr21	44514890	44514890	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttttccgcatcttcctcAcggcgaaactgaaaagacaa	12	9	7	13	3	2	2	1	1	1	1	4	3	4	2	3	1	1	1	3	1	4	3			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr21:44514890A>G	ENST00000291552.4	-	6	449	c.357T>C	c.(355-357)cgT>cgC	p.R119R	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000398137.1_Silent_p.R46R|U2AF1_ENST00000380276.2_Silent_p.R119R|U2AF1_ENST00000459639.1_Silent_p.R46R	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	119	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						CATCTTCCTCACGGCGAAACT	0.448			Mis		"CLL, MDS"																																	ENST00000459639.1				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"CLL, MDS"		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(136-138)cgT>cgC		U2 small nuclear RNA auxiliary factor 1							60	46	50					21																	44514890		2203	4300	6503	SO:0001819	synonymous_variant	7307				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	g.chr21:44514890A>G	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.357T>C	21.37:g.44514890A>G						U2AF1_ENST00000291552.4_Silent_p.R119R|U2AF1_ENST00000398137.1_Silent_p.R46R|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Silent_p.R119R	p.R46R			Q01081	U2AF1_HUMAN			5	1162	-			119					Q701P4|Q71RF1	Silent	SNP	ENST00000291552.4	37	c.138T>C	CCDS13694.1																																																																																				0.448	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		3	38	0	0	0	1	0	3	38					G	44514890	A	G	44514890	2	3	447	1	0	0	0	0	0	0	0	1	16818	146	6	4		4	U2AF1	21	44514890	Silent	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08		44514890	3615005	72	30775											
C22orf43	51233	broad.mit.edu	37	chr22	23956371	23956371	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctttgtgtctcagtgagCatcttaaaaacaggctatct	11	14	7	9	0	4	1	1	1	4	0	5	1	4	1	0	1	2	2	0	1	4	3			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr22:23956371C>G	ENST00000317749.5	-	9	869	c.572G>C	c.(571-573)tGc>tCc	p.C191S		NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		191	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						TCTCAGTGAGCATCTTAAAAA	0.453																																						ENST00000317749.5																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						c.(571-573)tGc>tCc		chromosome 22 open reading frame 43							182	184	183					22																	23956371		2035	4189	6224	SO:0001583	missense	51233							g.chr22:23956371C>G																												ENST00000317749.5:c.572G>C	22.37:g.23956371C>G	ENSP00000316137:p.Cys191Ser						p.C191S	NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN			9	869	-			191			Asp-rich.		Q6ICJ8|Q6P4I3|Q9NU31	Missense_Mutation	SNP	ENST00000317749.5	37	c.572G>C	CCDS42985.1	.	.	.	.	.	.	.	.	.	.	c	4.522	0.096868	0.08681	.	.	ENSG00000189269	ENST00000317749	T	0.38077	1.16	1.03	-2.06	0.07298	.	.	.	.	.	T	0.15176	0.0366	N	0.22421	0.69	0.09310	N	1	P	0.34684	0.463	B	0.23574	0.047	T	0.16453	-1.0402	9	0.22109	T	0.4	.	2.4502	0.04516	0.0:0.422:0.3218:0.2562	.	191	Q6PGQ1	CV043_HUMAN	S	191	ENSP00000316137:C191S	ENSP00000316137:C191S	C	-	2	0	C22orf43	22286371	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.394000	0.07296	-0.570000	0.06022	0.386000	0.25728	TGC		0.453	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2			19	51	0	0	0	1	0	19	51					G	23956371	C	G	23956371	3	3	447	1	0	0	0	0	1	0	0	0	2150	710	25	5	133	5	C22orf43	22	23956371	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08		23956371	27348195	73	30776											
WAS	7454	broad.mit.edu	37	chrX	48547130	48547130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggggggtaacaagggtcGttctggtccactgccccctg	5	10	15	11	1	1	0	0	0	1	0	3	0	2	0	3	5	2	2	3	5	2	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chrX:48547130G>A	ENST00000376701.4	+	10	1088	c.1013G>A	c.(1012-1014)cGt>cAt	p.R338H		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	338					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			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)				AACAAGGGTCGTTCTGGTCCA	0.692			"Mis, N, F, S"			lymphoma																																ENST00000376701.4				X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	"Mis, N, F, S"	Wiskott-Aldrich syndrome			L		lymphoma			0				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	GRCh37	CD962186	WAS	D		c.(1012-1014)cGt>cAt		Wiskott-Aldrich syndrome							10	10	10					X																	48547130		2175	4242	6417	SO:0001583	missense	7454				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48547130G>A	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"eczema-thrombocytopenia"	300392	"thrombocytopenia 1 (X-linked)", "Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.1013G>A	X.37:g.48547130G>A	ENSP00000365891:p.Arg338His						p.R338H	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN			10	1088	+		all_lung(315;1.27e-10)	338					Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	c.1013G>A	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777563	0.70107	.	.	ENSG00000015285	ENST00000376701	D	0.99748	-6.62	4.39	3.44	0.39384	Wiscott-Aldrich syndrome, C-terminal (1);	0.306403	0.28504	N	0.015112	D	0.99105	0.9692	M	0.72353	2.195	0.39556	D	0.969046	D	0.65815	0.995	P	0.51016	0.656	D	0.98784	1.0733	10	0.62326	D	0.03	-7.8544	4.94	0.13960	0.1223:0.2155:0.6622:0.0	.	338	P42768	WASP_HUMAN	H	338	ENSP00000365891:R338H	ENSP00000365891:R338H	R	+	2	0	WAS	48432074	0.996000	0.38824	0.997000	0.53966	0.994000	0.84299	2.626000	0.46460	1.901000	0.55032	0.525000	0.51046	CGT		0.692	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		8	0	0	0	0	1	0	8	0					A	48547130	G	A	48547130	3	1	447	1	0	0	0	0	1	0	0	0	17248	1145	40	1	1051	1	WAS	23	48547130	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		48547130	106723430	74	30777											
RLIM	51132	broad.mit.edu	37	chrX	73811565	73811565	+	Frame_Shift_Del	DEL	G	G	-																															gaaaaactgagccaggctaaGgaagggcaaagagccacttt																										TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chrX:73811565delG	ENST00000332687.6	-	4	1803	c.1585delC	c.(1585-1587)cttfs	p.L529fs	RLIM_ENST00000349225.2_Frame_Shift_Del_p.L529fs	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	529					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCAGGCTAAGGAAGGGCAAA	0.478																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1585-1587)ttfs		ring finger protein, LIM domain interacting							49	40	43					X																	73811565		2203	4300	6503	SO:0001589	frameshift_variant	51132				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	g.chrX:73811565delG	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1585delC	X.37:g.73811565delG	ENSP00000328059:p.Leu529fs					RLIM_ENST00000349225.2_Frame_Shift_Del_p.L529fs	p.L529fs	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1803	-			529					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Frame_Shift_Del	DEL	ENST00000332687.6	37	c.1585delC	CCDS14427.1																																																																																				0.478	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		19	1						19	1	---	---	---	---	-	73811565	G	-	73811565	7	5	447	1	0	1	0	1	0	0	0	0	13390	1000	35	0	293	0	RLIM	23	73811565	Frame_Shift_Del	DEL	G	TCGA-YJ-A8SW-01A-11D-A377-08	25264435	73811565	81458995	75	30778											
MEGF6	1953	broad.mit.edu	37	chr1	3428622	3428622	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcccgcgtgacacacgcaCttgaaggacccctgggtgtt	8	8	12	13	3	0	2	0	2	0	0	0	3	0	3	3	2	1	2	3	2	2	3			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:3428622C>T	ENST00000356575.4	-	8	1150	c.924G>A	c.(922-924)aaG>aaA	p.K308K	MEGF6_ENST00000294599.4_Silent_p.K203K	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	308	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GACACACGCACTTGAAGGACC	0.667																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(922-924)aaG>aaA		multiple EGF-like-domains 6							56	67	64					1																	3428622		2129	4211	6340	SO:0001819	synonymous_variant	1953					extracellular region	calcium ion binding	g.chr1:3428622C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.924G>A	1.37:g.3428622C>T						MEGF6_ENST00000294599.4_Silent_p.K203K	p.K308K	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		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)	8	1150	-	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)	308			EGF-like 5; calcium-binding (Potential).		Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.924G>A	CCDS41237.1																																																																																				0.667	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		12	63	0	0	0	1	0	12	63					T	3428622	C	T	3428622	2	4	448	1	0	0	0	0	0	0	0	1	9462	564	20	3		3	MEGF6	1	3428622	Silent	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08		3428622	245821999	1	30779											
ABCA4	24	broad.mit.edu	37	chr1	94517208	94517208	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaccgccaagccaataCgactcttgtagaagaaagta	14	8	7	12	2	2	2	1	0	1	2	2	3	2	2	4	0	2	2	4	0	7	5			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:94517208C>T	ENST00000370225.3	-	17	2720	c.2634G>A	c.(2632-2634)tcG>tcA	p.S878S	ABCA4_ENST00000535735.1_Silent_p.S804S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	878					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAAGCCAATACGACTCTTGTA	0.418																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2632-2634)tcG>tcA		ATP-binding cassette, sub-family A (ABC1), member 4							78	72	74					1																	94517208		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94517208C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2634G>A	1.37:g.94517208C>T						ABCA4_ENST00000535735.1_Silent_p.S804S	p.S878S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	17	2720	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	878					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.2634G>A	CCDS747.1																																																																																				0.418	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		7	56	0	0	0	1	0	7	56					T	94517208	C	T	94517208	2	4	448	1	0	0	0	0	0	0	0	1	34	523	19	1		1	ABCA4	1	94517208	Silent	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08	91088586	94517208	154733413	2	30780											
PMF1	11243	broad.mit.edu	37	chr1	156203419	156203419	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttcctcctttctcttcagGaggaaatctctgacatcaaa	10	14	5	12	0	4	1	2	1	2	0	8	3	6	3	2	2	0	0	2	2	2	3			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:156203419G>T	ENST00000368273.4	+	3	284	c.274G>T	c.(274-276)Gag>Tag	p.E92*	PMF1-BGLAP_ENST00000368276.4_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000490491.1_Splice_Site_p.E90*|PMF1_ENST00000567140.1_Splice_Site_p.E90*|PMF1_ENST00000368279.3_Splice_Site_p.E90*|PMF1_ENST00000565805.1_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000320139.5_Splice_Site_p.E90*|PMF1_ENST00000368277.3_Splice_Site_p.E90*	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					TTCTCTTCAGGAGGAAATCTC	0.443																																					Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)	ENST00000368277.3																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.e3-1		polyamine-modulated factor 1							133	142	139					1																	156203419		2203	4300	6503	SO:0001630	splice_region_variant	11243							g.chr1:156203419G>T	AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783			9112	protein-coding gene	gene with protein product		609176				10419538	Standard	NM_007221		Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368273.4:c.274-1G>T	1.37:g.156203419G>T						PMF1-BGLAP_ENST00000490491.1_Splice_Site_p.E90_splice|PMF1-BGLAP_ENST00000320139.5_Splice_Site_p.E90_splice|PMF1_ENST00000466489.1_3'UTR|PMF1_ENST00000368279.3_Splice_Site_p.E90_splice|PMF1_ENST00000567140.1_Splice_Site_p.E90_splice|PMF1_ENST00000565805.1_Splice_Site_p.E90_splice|PMF1-BGLAP_ENST00000368276.4_Splice_Site_p.E90_splice|PMF1_ENST00000368273.4_Splice_Site_p.E92_splice	p.E90_splice	NM_007221.3	NP_009152.2					3	277	+	Hepatocellular(266;0.158)								Splice_Site	SNP	ENST00000368273.4	37	c.267_splice	CCDS55648.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927608	0.52759	.	.	ENSG00000160783	ENST00000368279;ENST00000368273;ENST00000368277;ENST00000368276;ENST00000320139	.	.	.	5.11	5.11	0.69529	.	0.130010	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.0405	14.0219	0.64560	0.0:0.0:1.0:0.0	.	.	.	.	X	90;92;90;90;90	.	.	E	+	1	0	PMF1	154470043	1.000000	0.71417	0.999000	0.59377	0.843000	0.47879	5.794000	0.69067	2.400000	0.81607	0.484000	0.47621	GAG		0.443	PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040864.2	NM_007221	Nonsense_Mutation	4	110	1	0	0.014758	1	0.014758	4	110					T	156203419	G	T	156203419	5	4	448	1	0	0	0	0	0	0	1	0	12133	1188	41	5	278	5	PMF1	1	156203419	Splice_Site	SNP	G	TCGA-YL-A8HJ-01A-11D-A364-08	61686211	156203419	93047202	3	30781											
QSOX1	5768	broad.mit.edu	37	chr1	180159574	180159574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtgtccctcagggtgccGttcttgccaagaaggtgaac	8	10	12	11	1	2	2	1	1	1	1	3	2	3	2	3	2	3	1	3	2	3	2			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:180159574G>A	ENST00000367602.3	+	10	1221	c.1147G>A	c.(1147-1149)Gtt>Att	p.V383I	QSOX1_ENST00000367600.5_Missense_Mutation_p.V383I			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	383					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCAGGGTGCCGTTCTTGCCAA	0.542																																						ENST00000367602.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1147-1149)Gtt>Att		quiescin Q6 sulfhydryl oxidase 1							202	190	194					1																	180159574		2203	4300	6503	SO:0001583	missense	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180159574G>A	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"quiescin Q6"	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.1147G>A	1.37:g.180159574G>A	ENSP00000356574:p.Val383Ile					QSOX1_ENST00000367600.5_Missense_Mutation_p.V383I	p.V383I			O00391	QSOX1_HUMAN			10	1221	+			383					Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	ENST00000367602.3	37	c.1147G>A	CCDS1337.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962602	0.53400	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.17213	3.48;2.29	4.7	0.59	0.17458	.	0.258293	0.38164	N	0.001781	T	0.14700	0.0355	M	0.74881	2.28	0.09310	N	1	P;P;P	0.43094	0.698;0.525;0.799	B;B;B	0.37601	0.129;0.085;0.254	T	0.24693	-1.0153	10	0.16896	T	0.51	-9.7051	6.521	0.22275	0.2831:0.1203:0.5966:0.0	.	383;383;383	A8K477;O00391;O00391-2	.;QSOX1_HUMAN;.	I	383	ENSP00000356574:V383I;ENSP00000356572:V383I	ENSP00000356572:V383I	V	+	1	0	QSOX1	178426197	0.074000	0.21230	0.001000	0.08648	0.535000	0.34838	0.668000	0.25127	0.092000	0.17331	0.563000	0.77884	GTT		0.542	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		31	176	0	0	0	1	0	31	176					A	180159574	G	A	180159574	3	1	448	1	0	0	0	0	1	0	0	0	12883	1145	40	1	1185	1	QSOX1	1	180159574	Missense_Mutation	SNP	G	TCGA-YL-A8HJ-01A-11D-A364-08	23956155	180159574	69091047	4	30782											
USH2A	7399	broad.mit.edu	37	chr1	216144041	216144041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaactccaaggagcaaatcCgtaagcacgatagctgagtt	15	8	9	9	2	0	1	0	1	0	0	2	3	2	2	2	1	4	5	2	1	6	4			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:216144041C>T	ENST00000307340.3	-	36	7269	c.6883G>A	c.(6883-6885)Gga>Aga	p.G2295R	USH2A_ENST00000366943.2_Missense_Mutation_p.G2295R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2295	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			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)		GGAGCAAATCCGTAAGCACGA	0.418										HNSCC(13;0.011)																												ENST00000366943.2																			0				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						c.(6883-6885)Gga>Aga		Usher syndrome 2A (autosomal recessive, mild)							110	105	107					1																	216144041		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216144041C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6883G>A	1.37:g.216144041C>T	ENSP00000305941:p.Gly2295Arg	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.G2295R	p.G2295R			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	36	7269	-			2295			Fibronectin type-III 9.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6883G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604941	0.87157	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58797	0.31;0.31	5.81	5.81	0.92471	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.42964	D	0.000627	T	0.79100	0.4389	M	0.83603	2.65	0.51482	D	0.999928	D	0.89917	1.0	D	0.77004	0.989	T	0.77645	-0.2510	10	0.40728	T	0.16	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	2295	O75445	USH2A_HUMAN	R	2295	ENSP00000305941:G2295R;ENSP00000355910:G2295R	ENSP00000305941:G2295R	G	-	1	0	USH2A	214210664	0.999000	0.42202	0.932000	0.37286	0.919000	0.55068	4.478000	0.60230	2.746000	0.94184	0.591000	0.81541	GGA		0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	108	0	0	0	1	0	5	108					T	216144041	C	T	216144041	3	4	448	1	0	0	0	0	1	0	0	0	17033	661	23	2	8873	2	USH2A	1	216144041	Missense_Mutation	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08	35984467	216144041	33106580	5	30783											
CD96	10225	broad.mit.edu	37	chr3	111263902	111263902	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttttcaggagtttgggAaaaaacagtcaacacagaag	15	11	9	6	0	3	1	2	0	1	1	3	3	3	3	0	2	2	1	0	2	5	4			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr3:111263902A>G	ENST00000283285.5	+	2	202	c.71A>G	c.(70-72)gAa>gGa	p.E24G	CD96_ENST00000352690.4_Missense_Mutation_p.E24G|CD96_ENST00000438817.2_Missense_Mutation_p.E24G	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	24					cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GGAGTTTGGGAAAAAACAGTC	0.403									Opitz Trigonocephaly syndrome																													ENST00000352690.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						c.(70-72)gAa>gGa		CD96 molecule							107	106	106					3																	111263902		2203	4300	6503	SO:0001583	missense	0	Opitz Trigonocephaly syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111263902A>G	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16892	protein-coding gene	gene with protein product		606037	"CD96 antigen"			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.71A>G	3.37:g.111263902A>G	ENSP00000283285:p.Glu24Gly					CD96_ENST00000283285.5_Missense_Mutation_p.E24G|CD96_ENST00000438817.2_Missense_Mutation_p.E24G	p.E24G	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN			2	311	+			24					Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.71A>G	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	A	7.007	0.555991	0.13436	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.65549	-0.15;-0.16;-0.16	5.21	-1.35	0.09114	.	0.521728	0.19082	N	0.123220	T	0.39572	0.1083	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.16630	-1.0396	10	0.39692	T	0.17	-2.5289	10.1409	0.42734	0.5706:0.0:0.4294:0.0	.	24;24;24;24	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	G	24	ENSP00000342040:E24G;ENSP00000283285:E24G;ENSP00000389801:E24G	ENSP00000283285:E24G	E	+	2	0	CD96	112746592	0.882000	0.30256	0.037000	0.18230	0.000000	0.00434	0.327000	0.19663	-0.554000	0.06150	-1.937000	0.00501	GAA		0.403	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			6	51	0	0	0	1	0	6	51					G	111263902	A	G	111263902	3	3	448	1	0	0	0	0	1	0	0	0	3048	246	9	4	77	4	CD96	3	111263902	Missense_Mutation	SNP	A	TCGA-YL-A8HJ-01A-11D-A364-08		111263902	86758528	6	30784											
CD200R1L	344807	broad.mit.edu	37	chr3	112546090	112546090	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttcacttcgggtgtaacTgcagagaggaaagagggaaa	14	7	15	5	1	1	2	1	0	0	2	2	5	1	4	0	4	2	3	0	4	3	3			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr3:112546090T>C	ENST00000398214.1	-	4	656		c.e4-2		CD200R1L_ENST00000448932.1_Splice_Site|CD200R1L_ENST00000488794.1_Splice_Site	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like							integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CGGGTGTAACTGCAGAGAGGA	0.428																																						ENST00000488794.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.e6-2		CD200 receptor 1-like							47	47	47					3																	112546090		2196	4298	6494	SO:0001630	splice_region_variant	344807					integral to membrane	receptor activity	g.chr3:112546090T>C	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"Immunoglobulin superfamily / C2-set domain containing"	24665	protein-coding gene	gene with protein product	"CD200 receptor 2"						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.431-2A>G	3.37:g.112546090T>C						CD200R1L_ENST00000448932.1_Splice_Site|CD200R1L_ENST00000398214.1_Splice_Site				Q6Q8B3	MO2R2_HUMAN			6	957	-								Q6WHB7	Splice_Site	SNP	ENST00000398214.1	37		CCDS43131.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.589508	0.28357	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1697	0.42902	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CD200R1L	114028780	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	4.093000	0.57714	1.955000	0.56771	0.533000	0.62120	.		0.428	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784	Intron	10	53	0	0	0	1	0	10	53					C	112546090	T	C	112546090	5	2	448	1	0	0	0	0	0	0	1	0	2982	1594	55	4	398	4	CD200R1L	3	112546090	Splice_Site	SNP	T	TCGA-YL-A8HJ-01A-11D-A364-08	1282188	112546090	85476340	7	30785											
KDM3B	51780	broad.mit.edu	37	chr5	137763721	137763721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttagatgtgtctgatgctGttaatgtgatggtgtatgtt	8	18	12	3	0	1	3	0	2	1	1	1	3	1	3	0	1	1	4	0	1	3	4			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr5:137763721G>A	ENST00000314358.5	+	20	4899	c.4699G>A	c.(4699-4701)Gtt>Att	p.V1567I	KDM3B_ENST00000394866.1_Missense_Mutation_p.V1223I|KDM3B_ENST00000542866.1_Missense_Mutation_p.V599I	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1567	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			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						GTCTGATGCTGTTAATGTGAT	0.433																																						ENST00000314358.5																			0				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						c.(4699-4701)Gtt>Att		lysine (K)-specific demethylase 3B							350	326	334					5																	137763721		2203	4300	6503	SO:0001583	missense	51780				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	g.chr5:137763721G>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4699G>A	5.37:g.137763721G>A	ENSP00000326563:p.Val1567Ile					KDM3B_ENST00000394866.1_Missense_Mutation_p.V1223I|KDM3B_ENST00000542866.1_Missense_Mutation_p.V599I	p.V1567I	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			20	4899	+			1567			JmjC.		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.4699G>A	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256245	0.95336	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.69561	-0.41;-0.41;-0.41	5.81	5.81	0.92471	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	T	0.72930	0.3522	M	0.67953	2.075	0.80722	D	1	P;P	0.37997	0.518;0.614	B;B	0.43360	0.303;0.417	T	0.71882	-0.4458	10	0.45353	T	0.12	-15.5711	20.0838	0.97793	0.0:0.0:1.0:0.0	.	1223;1567	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	I	1567;1357;1223;599	ENSP00000326563:V1567I;ENSP00000378335:V1223I;ENSP00000439462:V599I	ENSP00000326563:V1567I	V	+	1	0	KDM3B	137791620	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	9.615000	0.98356	2.741000	0.93983	0.655000	0.94253	GTT		0.433	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		26	117	0	0	0	1	0	26	117					A	137763721	G	A	137763721	3	1	448	1	0	0	0	0	1	0	0	0	8127	1377	48	3	4777	3	KDM3B	5	137763721	Missense_Mutation	SNP	G	TCGA-YL-A8HJ-01A-11D-A364-08		137763721	43151539	8	30786											
DDX41	51428	broad.mit.edu	37	chr5	176942200	176942200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactcacatggtggggatgcCctggatctgaatgggtgttg	7	11	15	8	0	2	1	1	1	1	0	2	3	2	3	1	5	1	1	1	5	1	1			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr5:176942200C>T	ENST00000507955.1	-	7	1154	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	211					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					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)			GTGGGGATGCCCTGGATCTGA	0.527																																						ENST00000507955.1																			0											c.(631-633)Ggc>Agc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							265	224	238					5																	176942200		2203	4300	6503	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176942200C>T	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.631G>A	5.37:g.176942200C>T	ENSP00000422753:p.Gly211Ser					DDX41_ENST00000506965.1_5'UTR	p.G211S	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		7	1154	-	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)	211					B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.631G>A	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090732	0.94149	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.39787	1.06;1.06	5.53	4.67	0.58626	DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.056843	0.64402	N	0.000001	T	0.45478	0.1344	N	0.10945	0.07	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.56038	-0.8045	10	0.87932	D	0	-36.9553	14.3169	0.66457	0.0:0.9287:0.0:0.0713	.	211	Q9UJV9	DDX41_HUMAN	S	229;211	ENSP00000330349:G229S;ENSP00000422753:G211S	ENSP00000330349:G229S	G	-	1	0	DDX41	176874806	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.528000	0.81941	1.340000	0.45581	0.563000	0.77884	GGC		0.527	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		7	72	0	0	0	1	0	7	72					T	176942200	C	T	176942200	3	4	448	1	0	0	0	0	1	0	0	0	4361	623	22	3	1281	3	DDX41	5	176942200	Missense_Mutation	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08	39178479	176942200	3973060	9	30787											
NFKBIE	4794	broad.mit.edu	37	chr6	44229519	44229519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcctgtagtgcccggctggCccccttcagcaccagtgccc	4	8	11	18	1	1	0	1	0	0	0	2	0	2	0	6	2	3	3	6	2	1	2			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr6:44229519C>T	ENST00000275015.5	-	3	951	c.952G>A	c.(952-954)Gcc>Acc	p.A318T		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	318					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	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)			GCCCGGCTGGCCCCCTTCAGC	0.657																																						ENST00000275015.5																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(952-954)Gcc>Acc		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon							33	33	33					6																	44229519		2203	4300	6503	SO:0001583	missense	4794				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:44229519C>T	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"Ankyrin repeat domain containing"	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.952G>A	6.37:g.44229519C>T	ENSP00000275015:p.Ala318Thr						p.A318T	NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	951	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		318					Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	c.952G>A	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	C	36	5.702698	0.96812	.	.	ENSG00000146232	ENST00000275015	T	0.48522	0.81	5.28	5.28	0.74379	Ankyrin repeat-containing domain (3);	0.271701	0.35013	N	0.003511	T	0.73063	0.3539	M	0.92412	3.305	0.53005	D	0.999966	D	0.89917	1.0	D	0.79784	0.993	T	0.80450	-0.1377	10	0.72032	D	0.01	-47.4703	18.5303	0.90989	0.0:1.0:0.0:0.0	.	318	O00221	IKBE_HUMAN	T	318	ENSP00000275015:A318T	ENSP00000275015:A318T	A	-	1	0	NFKBIE	44337497	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.818000	0.86416	2.470000	0.83445	0.655000	0.94253	GCC		0.657	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2			9	30	0	0	0	1	0	9	30					T	44229519	C	T	44229519	3	4	448	1	0	0	0	0	1	0	0	0	10380	739	26	3	566	3	NFKBIE	6	44229519	Missense_Mutation	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08		44229519	126885548	10	30788											
SMPD2	6610	broad.mit.edu	37	chr6	109763184	109763184	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggctttcagcggaatcAttggcagtggcctctgtgtc	5	13	13	10	1	3	0	2	0	1	0	4	1	3	1	1	4	1	3	1	4	1	3			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr6:109763184A>T	ENST00000258052.3	+	4	591	c.232A>T	c.(232-234)Att>Ttt	p.I78F	PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	78					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		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)		CAGCGGAATCATTGGCAGTGG	0.502																																						ENST00000258052.3																			0				endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(232-234)Att>Ttt		sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)							241	244	243					6																	109763184		2203	4300	6503	SO:0001583	missense	6610				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	g.chr6:109763184A>T	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.232A>T	6.37:g.109763184A>T	ENSP00000258052:p.Ile78Phe						p.I78F	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)	4	591	+		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)	78					Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	c.232A>T	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407380	0.42715	.	.	ENSG00000135587	ENST00000258052	T	0.29917	1.55	5.22	4.01	0.46588	Endonuclease/exonuclease/phosphatase (2);	0.097154	0.64402	N	0.000002	T	0.06280	0.0162	N	0.20685	0.6	0.50171	D	0.999853	B	0.17667	0.023	B	0.23419	0.046	T	0.17107	-1.0380	10	0.07644	T	0.81	-0.5466	8.2718	0.31849	0.8088:0.0:0.0:0.1912	.	78	O60906	NSMA_HUMAN	F	78	ENSP00000258052:I78F	ENSP00000258052:I78F	I	+	1	0	SMPD2	109869877	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	2.827000	0.48112	0.933000	0.37291	0.533000	0.62120	ATT		0.502	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			28	156	0	0	0	1	0	28	156					T	109763184	A	T	109763184	3	4	448	1	0	0	0	0	1	0	0	0	14805	217	8	5	246	5	SMPD2	6	109763184	Missense_Mutation	SNP	A	TCGA-YL-A8HJ-01A-11D-A364-08	65533665	109763184	61351883	11	30789											
UTRN	7402	broad.mit.edu	37	chr6	145157448	145157448	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtattagaaatctacaggTggagtatgagcagctgaagg	13	10	13	5	0	1	3	0	2	1	1	1	4	1	4	0	3	3	4	0	3	6	4			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr6:145157448T>C	ENST00000367545.3	+	70	9836	c.9836T>C	c.(9835-9837)gTg>gCg	p.V3279A	UTRN_ENST00000367526.4_Missense_Mutation_p.V834A	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3279					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			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)		AATCTACAGGTGGAGTATGAG	0.488																																						ENST00000367545.3																			0				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						c.(9835-9837)gTg>gCg		utrophin							125	135	132					6																	145157448		2203	4300	6503	SO:0001583	missense	7402				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	g.chr6:145157448T>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9836T>C	6.37:g.145157448T>C	ENSP00000356515:p.Val3279Ala					UTRN_ENST00000367526.4_Missense_Mutation_p.V834A	p.V3279A	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	70	9836	+		Ovarian(120;0.218)	3279					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.9836T>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	3.303	-0.142412	0.06669	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.81078	-1.45;-1.45	5.91	2.03	0.26663	.	0.300780	0.24530	N	0.037726	T	0.15349	0.0370	N	0.00260	-1.75	0.25646	N	0.986146	B	0.02656	0.0	B	0.08055	0.003	T	0.48570	-0.9024	10	0.02654	T	1	.	6.4913	0.22117	0.1161:0.1289:0.0:0.755	.	3279	P46939	UTRO_HUMAN	A	3279;834	ENSP00000356515:V3279A;ENSP00000356496:V834A	ENSP00000356496:V834A	V	+	2	0	UTRN	145199141	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.233000	0.43027	0.490000	0.27771	0.533000	0.62120	GTG		0.488	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			26	117	0	0	0	1	0	26	117					C	145157448	T	C	145157448	3	2	448	1	0	0	0	0	1	0	0	0	17100	1696	59	4	10114	4	UTRN	6	145157448	Missense_Mutation	SNP	T	TCGA-YL-A8HJ-01A-11D-A364-08	35394264	145157448	25957619	12	30790											
CSMD3	114788	broad.mit.edu	37	chr8	114326822	114326822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcctaaagtttgtaggatGaggatgtccatcatataatg	12	14	10	5	0	1	1	1	1	0	0	3	3	3	3	2	2	0	2	2	2	5	5	rs370667704		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr8:114326822G>A	ENST00000297405.5	-	2	623	c.379C>T	c.(379-381)Cat>Tat	p.H127Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.H87Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.H127Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H127Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	127	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H87N(1)|p.H127N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTGTAGGATGAGGATGTCCA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			2	Substitution - Missense(2)	p.H87N(1)|p.H127N(1)	lung(2)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(379-381)Cat>Tat		CUB and Sushi multiple domains 3		G	TYR/HIS,TYR/HIS,TYR/HIS	1,4405	2.1+/-5.4	0,1,2202	125	117	120		379,379,259	5.7	1	8		120	0,8600		0,0,4300	no	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	83,83,83	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	127/3539,127/3708,87/3668	114326822	1,13005	2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114326822G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.379C>T	8.37:g.114326822G>A	ENSP00000297405:p.His127Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.H127Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H127Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.H87Y	p.H127Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			2	623	-			127			CUB 1.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.379C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908210	0.52333	2.27E-4	0.0	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.72	5.72	0.89469	CUB (5);	0.000000	0.64402	D	0.000005	T	0.30230	0.0758	N	0.25201	0.72	0.32972	D	0.522517	B;P;D;D;B	0.76494	0.255;0.886;0.999;0.969;0.035	B;B;D;D;B	0.70227	0.145;0.359;0.943;0.968;0.039	T	0.18618	-1.0331	10	0.56958	D	0.05	.	18.8756	0.92334	0.0:0.0:1.0:0.0	.	127;127;127;127;87	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407;Q7Z407-2	.;.;.;CSMD3_HUMAN;.	Y	87;127;127;127	ENSP00000345799:H87Y;ENSP00000297405:H127Y;ENSP00000412263:H127Y;ENSP00000343124:H127Y	ENSP00000297405:H127Y	H	-	1	0	CSMD3	114395998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.588000	0.74076	2.697000	0.92050	0.557000	0.71058	CAT		0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		9	45	0	0	0	1	0	9	45					A	114326822	G	A	114326822	3	1	448	1	0	0	0	0	1	0	0	0	3946	1290	45	3	11024	3	CSMD3	8	114326822	Missense_Mutation	SNP	G	TCGA-YL-A8HJ-01A-11D-A364-08		114326822	32037200	13	30791											
RNF139	83940	broad.mit.edu	37	chr8	125499608	125499608	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccatgcactttgccttcGgaaatggctgtacattcaag	9	14	8	10	1	1	0	1	0	0	0	3	1	2	1	2	2	3	3	2	2	3	5	rs189596016		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr8:125499608G>A	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Missense_Mutation_p.R573Q|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTTGCCTTCGGAAATGGCTG	0.348																																						ENST00000303545.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.(1717-1719)cGg>cAg		ring finger protein 139							80	73	76					8																	125499608		2203	4300	6503	SO:0001628	intergenic_variant	11236				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	g.chr8:125499608G>A	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125499608G>A							p.R573Q	NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	2090	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		573					B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	c.1718G>A	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338533	0.81911	.	.	ENSG00000170881	ENST00000303545	T	0.42131	0.98	5.64	5.64	0.86602	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.49184	0.1542	N	0.11201	0.11	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57734	-0.7760	10	0.59425	D	0.04	-9.5011	20.0625	0.97681	0.0:0.0:1.0:0.0	.	573	Q8WU17	RN139_HUMAN	Q	573	ENSP00000304051:R573Q	ENSP00000304051:R573Q	R	+	2	0	RNF139	125568789	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.341000	0.79300	2.816000	0.96949	0.561000	0.74099	CGG		0.348	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		3	33	0	0	0	1	0	3	33					A	125499608	G	A	125499608	1	1	448	0	1	0	0	0	0	0	0	0	13442	1116	39	2		2	RNF139	8	125499608	IGR	SNP	G	TCGA-YL-A8HJ-01A-11D-A364-08	11172786	125499608	20864414	14	30792											
NR4A3	8013	broad.mit.edu	37	chr9	102590779	102590779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggccttccccccgcaggCgggggcgttatgggacgagg	4	5	18	14	5	0	0	0	0	0	0	1	2	1	1	5	6	0	2	5	6	1	2			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr9:102590779C>T	ENST00000395097.2	+	3	1184	c.455C>T	c.(454-456)gCg>gTg	p.A152V	NR4A3_ENST00000338488.4_Missense_Mutation_p.A152V|NR4A3_ENST00000330847.1_Missense_Mutation_p.A163V	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	152					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CCCCCGCAGGCGGGGGCGTTA	0.741			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(487-489)gCg>gTg		nuclear receptor subfamily 4, group A, member 3							18	23	21					9																	102590779		2146	4211	6357	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590779C>T	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.455C>T	9.37:g.102590779C>T	ENSP00000378531:p.Ala152Val					NR4A3_ENST00000395097.2_Missense_Mutation_p.A152V|NR4A3_ENST00000338488.4_Missense_Mutation_p.A152V	p.A163V			Q92570	NR4A3_HUMAN			2	532	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	152					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.488C>T	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491934	0.44352	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	D;D;D	0.91068	-2.77;-2.34;-2.78	5.21	2.99	0.34606	.	1.667310	0.02875	N	0.132179	T	0.82199	0.4985	N	0.08118	0	0.22001	N	0.999428	B;B;B	0.26975	0.021;0.102;0.165	B;B;B	0.18871	0.016;0.017;0.023	T	0.66956	-0.5792	10	0.16896	T	0.51	.	13.7261	0.62759	0.4096:0.5904:0.0:0.0	.	163;152;152	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	V	152;152;163	ENSP00000378531:A152V;ENSP00000340301:A152V;ENSP00000333122:A163V	ENSP00000333122:A163V	A	+	2	0	NR4A3	101630600	0.954000	0.32549	0.955000	0.39395	0.959000	0.62525	1.909000	0.39917	1.267000	0.44247	0.557000	0.71058	GCG		0.741	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			4	28	0	0	0	1	0	4	28					T	102590779	C	T	102590779	3	4	448	1	0	0	0	0	1	0	0	0	10634	768	27	1	494	1	NR4A3	9	102590779	Missense_Mutation	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08		102590779	38622652	15	30793											
OR4C6	219432	broad.mit.edu	37	chr11	55432865	55432865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtcatgttctcatctgtcGttgcccccaaggtgattgta	7	15	9	10	1	3	1	2	1	2	0	5	1	3	1	2	1	1	3	2	1	2	4	rs201388016	byFrequency	TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr11:55432865G>A	ENST00000314259.3	+	1	252	c.223G>A	c.(223-225)Gtt>Att	p.V75I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCATCTGTCGTTGCCCCCAA	0.448													g|||	9	0.00179712	8e-04	0	5008	,	,		19397	0.002		0.001	False		,,,				2504	0.0051					ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(223-225)Gtt>Att		olfactory receptor, family 4, subfamily C, member 6		G	ILE/VAL	1,4399	2.1+/-5.4	0,1,2199	248	215	226		223	-2.1	0	11		226	3,8589	3.0+/-9.4	0,3,4293	yes	missense	OR4C6	NM_001004704.1	29	0,4,6492	AA,AG,GG		0.0349,0.0227,0.0308	benign	75/310	55432865	4,12988	2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432865G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.223G>A	11.37:g.55432865G>A	ENSP00000324769:p.Val75Ile						p.V75I	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	252	+			75					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.223G>A	CCDS31506.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	0.018	-1.476546	0.01035	2.27E-4	3.49E-4	ENSG00000181903	ENST00000314259	T	0.01406	4.93	3.83	-2.14	0.07123	GPCR, rhodopsin-like superfamily (1);	0.395490	0.18367	N	0.143383	T	0.00608	0.0020	N	0.05177	-0.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47774	-0.9091	10	0.02654	T	1	.	5.3444	0.16000	0.5373:0.149:0.3137:0.0	.	75	Q8NH72	OR4C6_HUMAN	I	75	ENSP00000324769:V75I	ENSP00000324769:V75I	V	+	1	0	OR4C6	55189441	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.095000	0.15127	-0.002000	0.14469	-1.261000	0.01458	GTT		0.448	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		13	52	0	0	0	1	0	13	52					A	55432865	G	A	55432865	3	1	448	1	0	0	0	0	1	0	0	0	11052	1145	40	1	225	1	OR4C6	11	55432865	Missense_Mutation	SNP	G	TCGA-YL-A8HJ-01A-11D-A364-08		55432865	79573651	16	30794											
ZBTB16	7704	broad.mit.edu	37	chr11	114112945	114112945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgcttccaggcgcagagcGcactgcagcagcacatggag	10	4	14	13	3	0	1	0	0	0	1	1	2	1	2	1	2	5	6	1	2	0	1			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr11:114112945G>A	ENST00000335953.4	+	5	1890	c.1510G>A	c.(1510-1512)Gca>Aca	p.A504T	RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.A504T	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	504					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGCGCAGAGCGCACTGCAGCA	0.627																																						ENST00000335953.4																			0				central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6						c.(1510-1512)Gca>Aca		zinc finger and BTB domain containing 16							80	58	66					11																	114112945		2201	4296	6497	SO:0001583	missense	7704				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	g.chr11:114112945G>A	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12930	protein-coding gene	gene with protein product	"promyelocytic leukaemia zinc finger"	176797	"zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1510G>A	11.37:g.114112945G>A	ENSP00000338157:p.Ala504Thr					ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.A504T|RP11-64D24.2_ENST00000544925.1_RNA	p.A504T	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	5	1890	+		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)	504					Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.1510G>A	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612192	0.87258	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.50548	0.74;0.74	5.33	5.33	0.75918	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47985	0.1475	N	0.16016	0.355	0.52501	D	0.999952	D	0.71674	0.998	P	0.61201	0.885	T	0.32107	-0.9919	10	0.10902	T	0.67	-14.8673	19.4129	0.94683	0.0:0.0:1.0:0.0	.	504	Q05516	ZBT16_HUMAN	T	504;504;381	ENSP00000338157:A504T;ENSP00000376721:A504T	ENSP00000309507:A381T	A	+	1	0	ZBTB16	113618155	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.766000	0.85320	2.652000	0.90054	0.655000	0.94253	GCA		0.627	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		8	21	0	0	0	1	0	8	21					A	114112945	G	A	114112945	3	1	448	1	0	0	0	0	1	0	0	0	17523	1087	38	1	1524	1	ZBTB16	11	114112945	Missense_Mutation	SNP	G	TCGA-YL-A8HJ-01A-11D-A364-08	58680080	114112945	20893571	17	30795											
XPOT	11260	broad.mit.edu	37	chr12	64825398	64825398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctggactgtttacagaCattcttgccagccctcagtt	8	15	7	11	0	3	1	1	0	2	1	3	2	3	2	2	1	3	2	2	1	2	6			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr12:64825398C>A	ENST00000332707.5	+	18	2586	c.2057C>A	c.(2056-2058)aCa>aAa	p.T686K		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	686	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TGTTTACAGACATTCTTGCCA	0.413																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2056-2058)aCa>aAa		exportin, tRNA							101	91	95					12																	64825398		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64825398C>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2057C>A	12.37:g.64825398C>A	ENSP00000327821:p.Thr686Lys						p.T686K	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	18	2586	+			686			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.2057C>A	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891179	0.52014	.	.	ENSG00000184575	ENST00000332707;ENST00000538086	T;T	0.67698	1.02;-0.28	5.01	5.01	0.66863	Armadillo-like helical (1);Armadillo-type fold (1);	0.207799	0.49305	D	0.000147	T	0.53142	0.1778	L	0.29908	0.895	0.58432	D	0.999995	B	0.31519	0.327	B	0.18871	0.023	T	0.50980	-0.8763	9	.	.	.	.	18.7765	0.91913	0.0:1.0:0.0:0.0	.	686	O43592	XPOT_HUMAN	K	686;208	ENSP00000327821:T686K;ENSP00000444345:T208K	.	T	+	2	0	XPOT	63111665	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.644000	0.61397	2.539000	0.85634	0.549000	0.68633	ACA		0.413	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		4	51	1	0	0.00909568	1	0.00928921	4	51					A	64825398	C	A	64825398	3	1	448	1	0	0	0	0	1	0	0	0	17447	478	17	5	2123	5	XPOT	12	64825398	Missense_Mutation	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08		64825398	69026497	18	30796											
PCDH17	27253	broad.mit.edu	37	chr13	58207773	58207773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggcgctgagcgaggccGcccctcccggcaccgtcatc	5	4	15	17	5	1	1	1	1	0	0	3	2	2	1	5	4	1	2	5	4	0	0			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr13:58207773G>A	ENST00000377918.3	+	1	1119	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	365	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		GAGCGAGGCCGCCCCTCCCGG	0.682																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				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						c.(1093-1095)Gcc>Acc		protocadherin 17							33	35	34					13																	58207773		2203	4299	6502	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207773G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1093G>A	13.37:g.58207773G>A	ENSP00000367151:p.Ala365Thr						p.A365T	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1119	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	365			Cadherin 4.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1093G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150125	0.78001	.	.	ENSG00000118946	ENST00000377918	T	0.55413	0.52	5.46	4.61	0.57282	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.65270	0.2675	L	0.53671	1.685	0.58432	D	0.999999	P;D	0.65815	0.948;0.995	P;D	0.64877	0.761;0.93	T	0.64550	-0.6381	9	.	.	.	.	14.5147	0.67811	0.0714:0.0:0.9286:0.0	.	365;365	O14917-2;O14917	.;PCD17_HUMAN	T	365	ENSP00000367151:A365T	.	A	+	1	0	PCDH17	57105774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.644000	0.74338	1.301000	0.44836	0.650000	0.86243	GCC		0.682	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		11	24	0	0	0	1	0	11	24					A	58207773	G	A	58207773	3	1	448	1	0	0	0	0	1	0	0	0	11512	1087	38	1	1095	1	PCDH17	13	58207773	Missense_Mutation	SNP	G	TCGA-YL-A8HJ-01A-11D-A364-08		58207773	56962105	19	30797											
DZIP1	22873	broad.mit.edu	37	chr13	96239899	96239899	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccttgttttgtggtggCggcacaggaagtgggcctgg	4	11	17	9	1	0	0	0	0	0	0	0	1	0	1	2	6	1	2	2	6	1	3	rs111764824		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr13:96239899C>T	ENST00000376829.2	-	20	2963	c.2112G>A	c.(2110-2112)ccG>ccA	p.P704P	DZIP1_ENST00000361396.2_Silent_p.P685P|DZIP1_ENST00000361156.3_Silent_p.P685P|DZIP1_ENST00000347108.3_Silent_p.P704P	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	704					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.P685P(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTTGTGGTGGCGGCACAGGAA	0.567													C|||	1	0.000199681	0	0	5008	,	,		17885	0.001		0	False		,,,				2504	0					ENST00000347108.3																			1	Substitution - coding silent(1)	p.P685P(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(2110-2112)ccG>ccA		DAZ interacting zinc finger protein 1							126	105	112					13																	96239899		2203	4300	6503	SO:0001819	synonymous_variant	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96239899C>T	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2112G>A	13.37:g.96239899C>T						DZIP1_ENST00000361156.3_Silent_p.P685P|DZIP1_ENST00000376829.2_Silent_p.P704P|DZIP1_ENST00000361396.2_Silent_p.P685P	p.P704P			Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		18	2544	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		704					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Silent	SNP	ENST00000376829.2	37	c.2112G>A	CCDS9478.1																																																																																				0.567	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		4	57	0	0	0	1	0	4	57					T	96239899	C	T	96239899	2	4	448	1	0	0	0	0	0	0	0	1	4863	755	27	1		1	DZIP1	13	96239899	Silent	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08	38032126	96239899	18929979	20	30798											
GZMH	2999	broad.mit.edu	37	chr14	25075816	25075816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgcctgctgttagaggCgcttcattgttctctttatc	5	17	8	11	1	3	1	2	0	1	1	5	1	3	1	1	1	2	4	1	1	2	6	rs140139906		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr14:25075816C>T	ENST00000216338.4	-	5	778	c.734G>A	c.(733-735)cGc>cAc	p.R245H	GZMH_ENST00000557220.2_Missense_Mutation_p.R114H|GZMH_ENST00000382548.4_Missense_Mutation_p.R159H|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA	NM_033423.4	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	245					apoptotic process (GO:0006915)|cytolysis (GO:0019835)	membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CTGTTAGAGGCGCTTCATTGT	0.532													C|||	1	0.000199681	0	0	5008	,	,		18525	0.001		0	False		,,,				2504	0					ENST00000216338.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12						c.(733-735)cGc>cAc		granzyme H (cathepsin G-like 2, protein h-CCPX)		C	HIS/ARG	0,4406		0,0,2203	146	129	135		734	-4.1	0	14	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	missense	GZMH	NM_033423.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	245/247	25075816	1,13005	2203	4300	6503	SO:0001583	missense	2999				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	g.chr14:25075816C>T	M72150	CCDS9632.1, CCDS59243.1	14q11.2	2003-10-20			ENSG00000100450	ENSG00000100450			4710	protein-coding gene	gene with protein product		116831		CTSGL2		2049336	Standard	NM_033423		Approved	CGL-2, CCP-X, CTLA1, CSP-C	uc001wpr.2	P20718	OTTHUMG00000140185	ENST00000216338.4:c.734G>A	14.37:g.25075816C>T	ENSP00000216338:p.Arg245His					RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000382548.4_Missense_Mutation_p.R159H|GZMH_ENST00000557220.2_Missense_Mutation_p.R114H|RP11-104E19.1_ENST00000557736.1_RNA	p.R245H	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN		GBM - Glioblastoma multiforme(265;0.0267)	5	778	-			245					G3V2C5|Q6XGZ0|Q6XGZ1	Missense_Mutation	SNP	ENST00000216338.4	37	c.734G>A	CCDS9632.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	9.300	1.052925	0.19907	0.0	1.16E-4	ENSG00000100450	ENST00000216338;ENST00000382547;ENST00000382548	D;D	0.90069	-2.56;-2.61	4.24	-4.05	0.03998	.	.	.	.	.	T	0.78729	0.4329	L	0.35288	1.05	0.09310	N	1	B;B	0.18013	0.0;0.025	B;B	0.08055	0.0;0.003	T	0.61530	-0.7044	9	0.34782	T	0.22	.	6.1456	0.20283	0.1553:0.2097:0.0:0.635	.	159;245	Q6XGZ1;P20718	.;GRAH_HUMAN	H	245;114;159	ENSP00000216338:R245H;ENSP00000371988:R159H	ENSP00000216338:R245H	R	-	2	0	GZMH	24145656	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.621000	0.00412	-0.787000	0.04510	0.561000	0.74099	CGC		0.532	GZMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276538.2	NM_033423		16	78	0	0	0	1	0	16	78					T	25075816	C	T	25075816	3	4	448	1	0	0	0	0	1	0	0	0	6917	768	27	1	10	1	GZMH	14	25075816	Missense_Mutation	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08		25075816	82273724	21	30799											
AHNAK2	113146	broad.mit.edu	37	chr14	105419126	105419126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctggacctccaggtcagCggaagggggctgaatgctga	9	6	16	10	1	1	2	1	2	0	0	2	4	2	4	3	5	3	2	3	5	2	0			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr14:105419126C>T	ENST00000333244.5	-	7	2781	c.2662G>A	c.(2662-2664)Gct>Act	p.A888T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	888						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				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)			TCCAGGTCAGCGGAAGGGGGC	0.647																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2662-2664)Gct>Act		AHNAK nucleoprotein 2							116	134	128					14																	105419126		1886	4105	5991	SO:0001583	missense	113146					nucleus		g.chr14:105419126C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2662G>A	14.37:g.105419126C>T	ENSP00000353114:p.Ala888Thr					AHNAK2_ENST00000557457.1_Intron	p.A888T	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2781	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	888					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2662G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	9.311	1.055575	0.19907	.	.	ENSG00000185567	ENST00000333244	T	0.00892	5.57	4.16	0.138	0.14793	.	.	.	.	.	T	0.01124	0.0037	M	0.69248	2.105	0.09310	N	1	P	0.50272	0.933	B	0.39152	0.292	T	0.46020	-0.9221	9	0.10111	T	0.7	-5.9297	8.0052	0.30321	0.0:0.6507:0.0:0.3493	.	888	Q8IVF2	AHNK2_HUMAN	T	888	ENSP00000353114:A888T	ENSP00000353114:A888T	A	-	1	0	AHNAK2	104490171	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.106000	0.15354	-0.332000	0.08489	-1.386000	0.01163	GCT		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		11	165	0	0	0	1	0	11	165					T	105419126	C	T	105419126	3	4	448	1	0	0	0	0	1	0	0	0	415	768	27	1	14729	1	AHNAK2	14	105419126	Missense_Mutation	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08	80343310	105419126	1930414	22	30800											
MTA1	9112	broad.mit.edu	37	chr14	105927271	105927271	+	Frame_Shift_Del	DEL	C	C	-																															aaaatatgggaaggatttcaCggacattcagcaagattttg																										TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr14:105927271delC	ENST00000331320.7	+	10	1137	c.923delC	c.(922-924)acgfs	p.T308fs	MTA1_ENST00000405646.1_Frame_Shift_Del_p.T291fs|MTA1_ENST00000435036.2_5'Flank|MTA1_ENST00000406191.1_Frame_Shift_Del_p.T308fs	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	308	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AAGGATTTCACGGACATTCAG	0.597																																						ENST00000331320.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14						c.(922-924)agfs		metastasis associated 1							109	108	109					14																	105927271		2203	4300	6503	SO:0001589	frameshift_variant	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105927271delC	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.923delC	14.37:g.105927271delC	ENSP00000333633:p.Thr308fs					MTA1_ENST00000406191.1_Frame_Shift_Del_p.T308fs|MTA1_ENST00000405646.1_Frame_Shift_Del_p.T291fs	p.T308fs	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	10	1137	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	308			SANT.		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Frame_Shift_Del	DEL	ENST00000331320.7	37	c.923delC	CCDS32169.1																																																																																				0.597	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			2	4						2	4	---	---	---	---	-	105927271	C	-	105927271	7	5	448	1	0	1	0	1	0	0	0	0	9908	536	19	0	961	0	MTA1	14	105927271	Frame_Shift_Del	DEL	C	TCGA-YL-A8HJ-01A-11D-A364-08	508145	105927271	1422269	23	30801											
LCTL	197021	broad.mit.edu	37	chr15	66850145	66850145	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaactgtaggtatctctcGgcagcctctaggtccttggg	7	11	12	11	1	2	1	0	0	2	1	5	1	3	1	2	4	2	3	2	4	4	4	rs202013638		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr15:66850145G>A	ENST00000341509.5	-	8	968	c.837C>T	c.(835-837)gcC>gcT	p.A279A	LCTL_ENST00000537670.1_Silent_p.A106A	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	279					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTATCTCTCGGCAGCCTCTA	0.498																																						ENST00000341509.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(835-837)gcC>gcT		lactase-like							98	105	103					15																	66850145		2201	4299	6500	SO:0001819	synonymous_variant	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66850145G>A	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"klotho gamma", "KL lactase phlorizin hydrolase"					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.837C>T	15.37:g.66850145G>A						LCTL_ENST00000537670.1_Silent_p.A106A	p.A279A	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN			8	968	-			279					B3KQY0	Silent	SNP	ENST00000341509.5	37	c.837C>T	CCDS10220.1																																																																																				0.498	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		8	102	0	0	0	1	0	8	102					A	66850145	G	A	66850145	2	1	448	1	0	0	0	0	0	0	0	1	8694	1103	39	2		2	LCTL	15	66850145	Silent	SNP	G	TCGA-YL-A8HJ-01A-11D-A364-08		66850145	35681247	24	30802											
HYDIN	54768	broad.mit.edu	37	chr16	70843713	70843713	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtattctgtcctctgccgTgtgtaattgatgaacttcac	8	16	8	9	1	3	2	1	2	2	0	4	2	4	2	2	0	2	2	2	0	4	6			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr16:70843713T>A	ENST00000393567.2	-	85	15006	c.14856A>T	c.(14854-14856)acA>acT	p.T4952T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4952					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCTCTGCCGTGTGTAATTGA	0.507																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(14854-14856)acA>acT		HYDIN, axonemal central pair apparatus protein							187	188	188					16																	70843713		1956	4147	6103	SO:0001819	synonymous_variant	54768							g.chr16:70843713T>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14856A>T	16.37:g.70843713T>A							p.T4952T	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			85	15006	-		Ovarian(137;0.0654)	4952					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.14856A>T	CCDS59269.1																																																																																				0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			9	89	0	0	0	1	0	9	89					A	70843713	T	A	70843713	2	1	448	1	0	0	0	0	0	0	0	1	7467	1683	59	5		5	HYDIN	16	70843713	Silent	SNP	T	TCGA-YL-A8HJ-01A-11D-A364-08		70843713	19511040	25	30803											
MYH2	4620	broad.mit.edu	37	chr17	10440625	10440625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctggtacagtccaaccaCggtctcattcagggggtcct	7	11	10	13	1	3	0	2	0	2	0	6	0	5	0	3	4	2	1	3	4	2	3			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr17:10440625C>T	ENST00000245503.5	-	16	2206	c.1822G>A	c.(1822-1824)Gtg>Atg	p.V608M	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.V608M|MYH2_ENST00000397183.2_Missense_Mutation_p.V608M|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	608	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGTCCAACCACGGTCTCATTC	0.488																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(1822-1824)Gtg>Atg		myosin, heavy chain 2, skeletal muscle, adult							142	144	144					17																	10440625		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10440625C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1822G>A	17.37:g.10440625C>T	ENSP00000245503:p.Val608Met					CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.V608M|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.V608M	p.V608M	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			16	2206	-			608			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.1822G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371851	0.61624	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.88124	-2.34;-2.34;-2.34	5.53	5.53	0.82687	Myosin head, motor domain (2);	0.000000	0.35466	U	0.003193	D	0.95755	0.8619	H	0.95745	3.715	0.58432	D	0.999999	D;P	0.89917	1.0;0.949	D;P	0.87578	0.998;0.901	D	0.96788	0.9580	10	0.87932	D	0	.	18.4518	0.90707	0.0:1.0:0.0:0.0	.	608;608	Q567P6;Q9UKX2	.;MYH2_HUMAN	M	608	ENSP00000433944:V608M;ENSP00000245503:V608M;ENSP00000380367:V608M	ENSP00000245503:V608M	V	-	1	0	MYH2	10381350	1.000000	0.71417	0.979000	0.43373	0.064000	0.16182	7.809000	0.86057	2.611000	0.88343	0.650000	0.86243	GTG		0.488	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		17	66	0	0	0	1	0	17	66					T	10440625	C	T	10440625	3	4	448	1	0	0	0	0	1	0	0	0	10035	536	19	1	4103	1	MYH2	17	10440625	Missense_Mutation	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08		10440625	70754585	26	30804											
SUPT6H	6830	broad.mit.edu	37	chr17	27011735	27011735	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcggcattgctttctcCtctgccaggtaacagcctat	6	13	8	14	1	2	0	0	0	2	0	5	0	3	0	4	2	4	3	4	2	2	4			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr17:27011735C>A	ENST00000314616.6	+	18	2644	c.2361C>A	c.(2359-2361)tcC>tcA	p.S787S	SUPT6H_ENST00000347486.4_Silent_p.S787S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	787	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)					TTGCTTTCTCCTCTGCCAGGT	0.468																																						ENST00000314616.6																			0				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						c.(2359-2361)tcC>tcA		suppressor of Ty 6 homolog (S. cerevisiae)							147	134	138					17																	27011735		2203	4300	6503	SO:0001819	synonymous_variant	6830				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	g.chr17:27011735C>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2361C>A	17.37:g.27011735C>A						SUPT6H_ENST00000347486.4_Silent_p.S787S	p.S787S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			18	2644	+	Lung NSC(42;0.00431)		787					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.2361C>A	CCDS32596.1																																																																																				0.468	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		3	36	1	0	0.004672	1	0.00487513	3	36					A	27011735	C	A	27011735	2	1	448	1	0	0	0	0	0	0	0	1	15397	668	24	5		5	SUPT6H	17	27011735	Silent	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08	16571110	27011735	54183475	27	30805											
PRKACA	5566	broad.mit.edu	37	chr19	14213651	14213651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagaactcgagtttgaCgaggaacggaaagttgacag	15	6	15	5	3	0	3	0	2	0	1	1	9	0	5	0	3	2	2	0	3	4	2			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:14213651C>T	ENST00000308677.4	-	4	509	c.313G>A	c.(313-315)Gtc>Atc	p.V105I	PRKACA_ENST00000589994.1_Missense_Mutation_p.V97I|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TCGAGTTTGACGAGGAACGGA	0.597																																						ENST00000308677.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						c.(313-315)Gtc>Atc		protein kinase, cAMP-dependent, catalytic, alpha							200	162	175					19																	14213651		2203	4300	6503	SO:0001583	missense	5566				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:14213651C>T		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.313G>A	19.37:g.14213651C>T	ENSP00000309591:p.Val105Ile					PRKACA_ENST00000589994.1_Missense_Mutation_p.V97I|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron	p.V105I	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN			4	509	-			105			Protein kinase.		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	ENST00000308677.4	37	c.313G>A	CCDS12304.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063125	0.55432	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695;ENST00000536649	T	0.12569	2.67	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42548	D	0.000691	T	0.20292	0.0488	L	0.41632	1.29	0.47698	D	0.99949	P;P;P;P	0.46512	0.604;0.784;0.577;0.879	P;P;P;P	0.51453	0.499;0.63;0.67;0.518	T	0.01786	-1.1274	10	0.15952	T	0.53	.	17.2007	0.86906	0.0:1.0:0.0:0.0	.	47;88;105;97	B7Z708;Q15136;P17612;P17612-2	.;.;KAPCA_HUMAN;.	I	105;97;105;47	ENSP00000309591:V105I	ENSP00000309591:V105I	V	-	1	0	PRKACA	14074651	1.000000	0.71417	0.996000	0.52242	0.018000	0.09664	7.763000	0.85283	2.654000	0.90174	0.563000	0.77884	GTC		0.597	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		11	68	0	0	0	1	0	11	68					T	14213651	C	T	14213651	3	4	448	1	0	0	0	0	1	0	0	0	12497	536	19	1	770	1	PRKACA	19	14213651	Missense_Mutation	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08		14213651	44915332	28	30806											
CPAMD8	27151	broad.mit.edu	37	chr19	17057993	17057993	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acatggcgtttgccaggatgCccaacaaactggatgccctt	10	9	10	12	1	0	0	0	0	0	0	0	2	0	2	3	3	5	1	3	3	2	2			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:17057993C>T	ENST00000443236.1	-	21	2725	c.2694G>A	c.(2692-2694)ggG>ggA	p.G898G		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	851						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			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						TGCCAGGATGCCCAACAAACT	0.602																																						ENST00000443236.1																			0				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						c.(2692-2694)ggG>ggA		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							166	166	166					19																	17057993		2062	4215	6277	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17057993C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2694G>A	19.37:g.17057993C>T							p.G898G	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			21	2725	-			851					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.2694G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	9.252	1.041049	0.19669	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.46	-2.37	0.06643	.	0.143097	0.47093	D	0.000256	T	0.52075	0.1712	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46162	-0.9211	6	0.44086	T	0.13	.	4.9666	0.14094	0.0:0.4046:0.2933:0.3021	.	.	.	.	D	909	.	ENSP00000402505:G909D	G	-	2	0	CPAMD8	16918993	0.920000	0.31207	0.023000	0.16930	0.979000	0.70002	-0.159000	0.10056	0.015000	0.14971	0.491000	0.48974	GGC		0.602	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		4	176	0	0	0	1	0	4	176					T	17057993	C	T	17057993	2	4	448	1	0	0	0	0	0	0	0	1	3795	726	26	3		3	CPAMD8	19	17057993	Silent	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08	2844342	17057993	42070990	29	30807											
GMIP	51291	broad.mit.edu	37	chr19	19745500	19745500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaggtggaaggggatcaCgggctcggtgagctgggggt	7	7	22	5	2	1	2	1	1	0	1	2	4	1	4	0	8	1	3	0	8	2	1			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:19745500C>T	ENST00000203556.4	-	18	2037	c.1900G>A	c.(1900-1902)Gtg>Atg	p.V634M	GMIP_ENST00000445806.2_Missense_Mutation_p.V605M|GMIP_ENST00000587238.1_Missense_Mutation_p.V608M|GMIP_ENST00000586269.1_Intron	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	634	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AAGGGGATCACGGGCTCGGTG	0.667																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1900-1902)Gtg>Atg		GEM interacting protein							121	123	123					19																	19745500		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19745500C>T	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1900G>A	19.37:g.19745500C>T	ENSP00000203556:p.Val634Met					GMIP_ENST00000587238.1_Missense_Mutation_p.V608M|GMIP_ENST00000586269.1_Intron|GMIP_ENST00000445806.2_Missense_Mutation_p.V605M	p.V634M	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			18	2037	-			634			Rho-GAP.		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.1900G>A	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735493	0.49045	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.48201	0.82;0.82	4.85	2.24	0.28232	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.236110	0.22606	N	0.057883	T	0.65933	0.2739	M	0.87180	2.865	0.37434	D	0.914141	D;D;D	0.62365	0.991;0.986;0.991	P;D;P	0.63283	0.837;0.913;0.837	T	0.72903	-0.4151	10	0.87932	D	0	-13.0058	8.6041	0.33762	0.0:0.7357:0.1618:0.1025	.	605;608;634	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	M	634;605	ENSP00000203556:V634M;ENSP00000397075:V605M	ENSP00000203556:V634M	V	-	1	0	GMIP	19606500	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.408000	0.07169	1.003000	0.39130	0.561000	0.74099	GTG		0.667	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		21	119	0	0	0	1	0	21	119					T	19745500	C	T	19745500	3	4	448	1	0	0	0	0	1	0	0	0	6491	536	19	1	1028	1	GMIP	19	19745500	Missense_Mutation	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08	2687507	19745500	39383483	30	30808											
TSHZ3	57616	broad.mit.edu	37	chr19	31767790	31767790	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagacggggtggccagtgTccaagtttttgaggaacttt	10	11	14	6	1	0	3	0	1	0	2	1	4	1	4	2	4	1	1	2	4	3	3			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:31767790T>C	ENST00000240587.4	-	2	3236	c.2909A>G	c.(2908-2910)gAc>gGc	p.D970G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	970					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)					GTGGCCAGTGTCCAAGTTTTT	0.522																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2908-2910)gAc>gGc		teashirt zinc finger homeobox 3							66	62	64					19																	31767790		2203	4300	6503	SO:0001583	missense	57616				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	g.chr19:31767790T>C	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2909A>G	19.37:g.31767790T>C	ENSP00000240587:p.Asp970Gly						p.D970G	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	3236	-	Esophageal squamous(110;0.226)		970					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2909A>G	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163653	0.78226	.	.	ENSG00000121297	ENST00000240587	T	0.19250	2.16	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	L	0.60455	1.87	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.32561	-0.9902	10	0.72032	D	0.01	-38.0373	16.216	0.82217	0.0:0.0:0.0:1.0	.	970	Q63HK5	TSH3_HUMAN	G	970	ENSP00000240587:D970G	ENSP00000240587:D970G	D	-	2	0	TSHZ3	36459630	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.671000	0.83941	2.228000	0.72767	0.482000	0.46254	GAC		0.522	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		5	43	0	0	0	1	0	5	43					C	31767790	T	C	31767790	3	2	448	1	0	0	0	0	1	0	0	0	16622	1667	58	4	340	4	TSHZ3	19	31767790	Missense_Mutation	SNP	T	TCGA-YL-A8HJ-01A-11D-A364-08	12022290	31767790	27361193	31	30809											
FFAR3	2865	broad.mit.edu	37	chr19	35849909	35849909	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctggccctggtggtcttCgtgggcaagctgcagcgccg	3	9	16	13	3	1	0	0	0	1	0	2	0	1	0	2	4	4	4	2	4	1	1	rs148149328		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:35849909C>T	ENST00000327809.4	+	2	318	c.117C>T	c.(115-117)ttC>ttT	p.F39F	FFAR3_ENST00000594310.1_Silent_p.F39F	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	39					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.F39F(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGGTGGTCTTCGTGGGCAAGC	0.637													C|||	1	0.000199681	8e-04	0	5008	,	,		25120	0		0	False		,,,				2504	0				Esophageal Squamous(185;1742 2042 21963 24215 27871)	ENST00000327809.4																			1	Substitution - coding silent(1)	p.F39F(1)	lung(1)	endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(115-117)ttC>ttT		free fatty acid receptor 3							148	136	140					19																	35849909		2199	4295	6494	SO:0001819	synonymous_variant	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35849909C>T	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"GPCR / Class A : Fatty acid receptors"	4499	protein-coding gene	gene with protein product		603821	"G protein-coupled receptor 41"	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.117C>T	19.37:g.35849909C>T						FFAR3_ENST00000594310.1_Silent_p.F39F	p.F39F	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	318	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		39					B2RWM8|Q14CM7	Silent	SNP	ENST00000327809.4	37	c.117C>T	CCDS12459.1																																																																																				0.637	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		16	108	0	0	0	1	0	16	108					T	35849909	C	T	35849909	2	4	448	1	0	0	0	0	0	0	0	1	5829	883	31	2		2	FFAR3	19	35849909	Silent	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08	4082119	35849909	23279074	32	30810											
RYR1	6261	broad.mit.edu	37	chr19	38989877	38989877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcgctttgctgtcttcGtcaacggtgaggagggggtg	4	12	16	9	3	2	1	1	1	1	0	4	2	3	2	1	4	3	2	1	4	1	2			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:38989877G>A	ENST00000359596.3	+	43	7021	c.7021G>A	c.(7021-7023)Gtc>Atc	p.V2341I	RYR1_ENST00000360985.3_Missense_Mutation_p.V2341I|RYR1_ENST00000355481.4_Missense_Mutation_p.V2341I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2341	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			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)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGCTGTCTTCGTCAACGGTGA	0.607																																						ENST00000355481.4																			0				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						c.(7021-7023)Gtc>Atc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						88	67	74					19																	38989877		2203	4300	6503	SO:0001583	missense	6261				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	g.chr19:38989877G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7021G>A	19.37:g.38989877G>A	ENSP00000352608:p.Val2341Ile					RYR1_ENST00000360985.3_Missense_Mutation_p.V2341I|RYR1_ENST00000359596.3_Missense_Mutation_p.V2341I	p.V2341I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		43	7152	+	all_cancers(60;7.91e-06)		2341			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7021G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463784	0.26335	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.95447	-3.71;-3.71;-3.71	3.69	3.69	0.42338	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000014	D	0.95971	0.8688	L	0.39397	1.21	0.46011	D	0.998814	D;P	0.71674	0.998;0.955	D;B	0.73708	0.981;0.398	D	0.95852	0.8875	10	0.48119	T	0.1	.	15.1881	0.73020	0.0:0.0:1.0:0.0	.	2341;2341	P21817-2;P21817	.;RYR1_HUMAN	I	2341	ENSP00000352608:V2341I;ENSP00000347667:V2341I;ENSP00000354254:V2341I	ENSP00000347667:V2341I	V	+	1	0	RYR1	43681717	0.896000	0.30565	0.854000	0.33618	0.163000	0.22366	2.190000	0.42630	1.890000	0.54733	0.313000	0.20887	GTC		0.607	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			6	41	0	0	0	1	0	6	41					A	38989877	G	A	38989877	3	1	448	1	0	0	0	0	1	0	0	0	13768	1145	40	1	7191	1	RYR1	19	38989877	Missense_Mutation	SNP	G	TCGA-YL-A8HJ-01A-11D-A364-08	3139968	38989877	20139106	33	30811											
ZNF587	84914	broad.mit.edu	37	chr19	58371137	58371137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaggaagtatcatcttctgGttcatgagagagttcacact	12	12	9	8	0	5	2	3	1	2	1	5	4	5	3	0	2	0	3	0	2	2	4			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:58371137G>T	ENST00000339656.5	+	3	1539	c.1357G>T	c.(1357-1359)Gtt>Ttt	p.V453F	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.V452F|ZNF587_ENST00000419854.1_Missense_Mutation_p.V410F|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000597342.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(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;0.0264)		TCATCTTCTGGTTCATGAGAG	0.433																																					Pancreas(59;641 1233 1885 20055 50741)	ENST00000339656.5																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15						c.(1357-1359)Gtt>Ttt		zinc finger protein 587							126	154	145					19																	58371137		2203	4300	6503	SO:0001583	missense	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58371137G>T	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"Zinc fingers, C2H2-type", "-"	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1357G>T	19.37:g.58371137G>T	ENSP00000345479:p.Val453Phe					ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.V452F|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.V410F|ZNF814_ENST00000597832.1_Intron	p.V453F	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	3	1539	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	453					A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	ENST00000339656.5	37	c.1357G>T	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	10.71	1.428076	0.25726	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.07567	3.18;3.18;3.18	1.76	-3.53	0.04667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05686	0.0149	L	0.33093	0.98	0.25920	N	0.983122	P;B	0.34562	0.457;0.356	B;B	0.34991	0.193;0.111	T	0.20273	-1.0280	8	0.54805	T	0.06	.	3.9824	0.09501	0.3567:0.3637:0.2796:0.0	.	452;453	G3V0H5;Q96SQ5	.;ZN587_HUMAN	F	410;452;453;453;410	ENSP00000393865:V452F;ENSP00000345479:V453F;ENSP00000406999:V410F	ENSP00000345479:V453F	V	+	1	0	ZNF587	63062949	0.000000	0.05858	0.000000	0.03702	0.246000	0.25737	-4.861000	0.00177	-1.731000	0.01360	0.195000	0.17529	GTT		0.433	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		11	72	1	0	7.03913e-09	1	7.67905e-09	11	72					T	58371137	G	T	58371137	3	4	448	1	0	0	0	0	1	0	0	0	18017	1261	44	5	1367	5	ZNF587	19	58371137	Missense_Mutation	SNP	G	TCGA-YL-A8HJ-01A-11D-A364-08	19381260	58371137	757846	34	30812											
SLC12A5	57468	broad.mit.edu	37	chr20	44682327	44682327	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcatttacgcatcactgcGgaggtcgaggtggtggagat	9	11	14	7	3	2	1	2	0	0	1	3	4	2	2	0	5	2	1	0	5	2	3	rs546939045		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr20:44682327G>A	ENST00000454036.2	+	20	2776	c.2727G>A	c.(2725-2727)gcG>gcA	p.A909A	SLC12A5_ENST00000243964.3_Silent_p.A886A	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	909					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			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)	GCATCACTGCGGAGGTCGAGG	0.537													G|||	1	0.000199681	0	0	5008	,	,		21767	0		0	False		,,,				2504	0.001					ENST00000454036.1																			0				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						c.(2725-2727)gcG>gcA		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						205	175	185					20																	44682327		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44682327G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2727G>A	20.37:g.44682327G>A						SLC12A5_ENST00000243964.3_Silent_p.A886A	p.A909A	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			20	2803	+		Myeloproliferative disorder(115;0.0122)	909					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.2727G>A	CCDS46610.1																																																																																				0.537	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			12	51	0	0	0	1	0	12	51					A	44682327	G	A	44682327	2	1	448	1	0	0	0	0	0	0	0	1	14386	1103	39	2		2	SLC12A5	20	44682327	Silent	SNP	G	TCGA-YL-A8HJ-01A-11D-A364-08		44682327	18343193	35	30813											
PCBP3	54039	broad.mit.edu	37	chr21	47349908	47349908	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaccaaccccgctttcccCggtacgtacccagccctttt	7	9	6	19	3	0	1	0	0	0	1	1	1	1	1	7	1	4	3	7	1	3	5	rs371552951		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr21:47349908C>T	ENST00000400314.1	+	12	1133	c.795C>T	c.(793-795)ccC>ccT	p.P265P	PCBP3_ENST00000400309.1_Splice_Site_p.P264P|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400304.1_Splice_Site_p.P255P|PCBP3_ENST00000400310.1_Splice_Site_p.P265P|PCBP3_ENST00000400308.1_Splice_Site_p.P239P|PCBP3_ENST00000449640.1_Splice_Site_p.P265P			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	265					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCGCTTTCCCCGGTACGTACC	0.567																																						ENST00000400314.1																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.e12+1		poly(rC) binding protein 3		C	,	0,4024		0,0,2012	123	136	132		717,795	3.3	1	21		132	1,8339		0,1,4169	no	coding-synonymous-near-splice,coding-synonymous-near-splice	PCBP3	NM_001130141.1,NM_020528.2	,	0,1,6181	TT,TC,CC		0.012,0.0,0.0081	,	239/346,265/372	47349908	1,12363	2012	4170	6182	SO:0001630	splice_region_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47349908C>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"poly(rC)-binding protein 3"			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.796+1C>T	21.37:g.47349908C>T						PCBP3_ENST00000449640.1_Splice_Site_p.P265_splice|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400304.1_Splice_Site_p.P255_splice|PCBP3_ENST00000400308.1_Splice_Site_p.P239_splice|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400309.1_Splice_Site_p.P264_splice|PCBP3_ENST00000400310.1_Splice_Site_p.P265_splice	p.P265_splice			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	12	1133	+	all_hematologic(128;0.24)		265					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Splice_Site	SNP	ENST00000400314.1	37	c.796_splice	CCDS42974.2																																																																																				0.567	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2		Silent	5	48	0	0	0	1	0	5	48					T	47349908	C	T	47349908	5	4	448	1	0	0	0	0	0	0	1	0	11502	666	23	2	833	2	PCBP3	21	47349908	Splice_Site	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08		47349908	779987	36	30814											
CXorf59	286464	broad.mit.edu	37	chrX	36103579	36103579	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaattaattcaagtcaaTctttacctgtagataaccat	14	14	5	8	0	3	1	2	0	1	1	3	2	3	2	2	1	2	1	2	1	7	6			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:36103579T>C	ENST00000313548.4	+	5	751	c.565T>C	c.(565-567)Tct>Cct	p.S189P		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	189						integral component of membrane (GO:0016021)											TTCAAGTCAATCTTTACCTGT	0.368																																						ENST00000378660.1																			0											c.(565-567)Tct>Cct		calponin homology domain containing 2							84	78	80					X																	36103579		2202	4300	6502	SO:0001583	missense	286464							g.chrX:36103579T>C	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.565T>C	X.37:g.36103579T>C	ENSP00000324767:p.Ser189Pro					CHDC2_ENST00000313548.4_Missense_Mutation_p.S189P	p.S189P							5	753	+									Missense_Mutation	SNP	ENST00000313548.4	37	c.565T>C	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	T	6.445	0.450220	0.12223	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.9	4.62	0.57501	.	0.103386	0.39146	N	0.001444	T	0.23370	0.0565	N	0.12182	0.205	0.22171	N	0.999319	B	0.22276	0.067	B	0.16289	0.015	T	0.11397	-1.0589	9	0.29301	T	0.29	-21.3174	10.3313	0.43825	0.1602:0.0:0.0:0.8398	.	189	Q8N9S7	CX059_HUMAN	P	189	.	ENSP00000324767:S189P	S	+	1	0	CXorf59	36013500	1.000000	0.71417	0.866000	0.34008	0.046000	0.14306	2.635000	0.46537	1.974000	0.57490	0.486000	0.48141	TCT		0.368	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		9	19	0	0	0	1	0	9	19					C	36103579	T	C	36103579	3	2	448	1	0	0	0	0	1	0	0	0	4115	1435	50	4	579	4	CXorf59	23	36103579	Missense_Mutation	SNP	T	TCGA-YL-A8HJ-01A-11D-A364-08		36103579	119166981	37	30815											
BRWD3	254065	broad.mit.edu	37	chrX	79984395	79984395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgtcttctccagatggCaaattattgctaaacaaaac	14	13	5	9	0	3	1	0	0	3	1	4	1	3	1	1	1	3	2	1	1	6	5			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:79984395C>A	ENST00000373275.4	-	14	1458	c.1242G>T	c.(1240-1242)ttG>ttT	p.L414F		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	414					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					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						CTCCAGATGGCAAATTATTGC	0.338																																						ENST00000373275.4																			0				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						c.(1240-1242)ttG>ttT		bromodomain and WD repeat domain containing 3							92	78	83					X																	79984395		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79984395C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1242G>T	X.37:g.79984395C>A	ENSP00000362372:p.Leu414Phe						p.L414F	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			14	1458	-			414					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1242G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	9.511	1.105837	0.20632	.	.	ENSG00000165288	ENST00000373275	T	0.55760	0.5	4.4	2.61	0.31194	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	1.055530	0.07388	N	0.888554	T	0.43144	0.1234	L	0.46157	1.445	0.20074	N	0.999932	B	0.19935	0.04	B	0.15870	0.014	T	0.29671	-1.0004	9	.	.	.	-2.3199	5.3834	0.16204	0.1513:0.5981:0.0:0.2506	.	414	Q6RI45	BRWD3_HUMAN	F	414	ENSP00000362372:L414F	.	L	-	3	2	BRWD3	79871051	0.908000	0.30866	1.000000	0.80357	0.788000	0.44548	0.178000	0.16820	0.984000	0.38629	0.422000	0.28245	TTG		0.338	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		11	42	1	0	7.03913e-09	1	7.67905e-09	11	42					A	79984395	C	A	79984395	3	1	448	1	0	0	0	0	1	0	0	0	1526	709	25	5	4278	5	BRWD3	23	79984395	Missense_Mutation	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08	43880816	79984395	75286165	38	30816											
ACTRT1	139741	broad.mit.edu	37	chrX	127185975	127185975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacgctcaatggggtagtGcaaatgtagggcctcatact	10	10	11	10	1	2	0	2	0	0	0	3	0	3	0	2	3	2	4	2	3	5	3			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:127185975G>T	ENST00000371124.3	-	1	407	c.211C>A	c.(211-213)Cac>Aac	p.H71N		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	71						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ATGGGGTAGTGCAAATGTAGG	0.473																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(211-213)Cac>Aac		actin-related protein T1							151	139	143					X																	127185975		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185975G>T	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.211C>A	X.37:g.127185975G>T	ENSP00000360165:p.His71Asn						p.H71N	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	407	-			71					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.211C>A	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	4.504	0.093547	0.08632	.	.	ENSG00000123165	ENST00000371124	D	0.94092	-3.35	3.76	3.76	0.43208	.	0.761606	0.12113	N	0.498360	D	0.84960	0.5588	N	0.11064	0.09	0.25398	N	0.98847	B	0.16166	0.016	B	0.14578	0.011	T	0.76699	-0.2863	10	0.87932	D	0	.	7.8247	0.29307	0.0:0.0:0.753:0.247	.	71	Q8TDG2	ACTT1_HUMAN	N	71	ENSP00000360165:H71N	ENSP00000360165:H71N	H	-	1	0	ACTRT1	127013656	0.997000	0.39634	0.034000	0.17996	0.083000	0.17756	2.507000	0.45442	2.133000	0.65898	0.544000	0.68410	CAC		0.473	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		6	60	1	0	3.59834e-05	1	3.83823e-05	6	60					T	127185975	G	T	127185975	3	4	448	1	0	0	0	0	1	0	0	0	218	1319	46	5	923	5	ACTRT1	23	127185975	Missense_Mutation	SNP	G	TCGA-YL-A8HJ-01A-11D-A364-08	47201580	127185975	28084585	39	30817											
MAGEA6	4105	broad.mit.edu	37	chrX	151870216	151870216	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctcgcatttcctacccActcctgcatgagtgggcttt	6	12	9	14	1	0	1	0	1	0	0	3	2	2	2	4	2	2	3	4	2	1	3			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:151870216A>T	ENST00000329342.5	+	3	1131	c.906A>T	c.(904-906)ccA>ccT	p.P302P		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	302	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTACCCACTCCTGCATG	0.567																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(904-906)ccA>ccT		melanoma antigen family A, 6							123	120	121					X																	151870216		2202	4298	6500	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151870216A>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"MAGE-6 antigen", "melanoma-associated antigen 6", "melanoma antigen family A 6", "cancer/testis antigen family 1, member 6"	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.906A>T	X.37:g.151870216A>T							p.P302P	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	1131	+	Acute lymphoblastic leukemia(192;6.56e-05)		302			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.906A>T	CCDS14708.1																																																																																				0.567	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		22	50	0	0	0	1	0	22	50					T	151870216	A	T	151870216	2	4	448	1	0	0	0	0	0	0	0	1	9170	146	6	5		5	MAGEA6	23	151870216	Silent	SNP	A	TCGA-YL-A8HJ-01A-11D-A364-08	24684241	151870216	3400344	40	30818											
FLG	2312	broad.mit.edu	37	chr1	152280684	152280684	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccctgatgattgtccctgGcccaccagtgagtgtctaga	7	10	12	12	0	1	4	0	3	1	1	2	4	2	4	4	2	0	0	4	2	1	2	rs386635457		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr1:152280684G>C	ENST00000368799.1	-	3	6713	c.6678C>G	c.(6676-6678)ggC>ggG	p.G2226G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2226	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			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)			ATTGTCCCTGGCCCACCAGTG	0.562									Ichthyosis																													ENST00000368799.1																			0				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						c.(6676-6678)ggC>ggG		filaggrin							242	240	240					1																	152280684		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280684G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6678C>G	1.37:g.152280684G>C						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G2226G	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6713	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2226			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.6678C>G	CCDS30860.1																																																																																				0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		24	121	0	0	0	1	0	24	121					C	152280684	G	C	152280684	2	2	449	1	0	0	0	0	0	0	0	1	5922	1190	42	5		5	FLG	1	152280684	Silent	SNP	G	TCGA-YL-A8HK-01A-11D-A364-08		152280684	96969937	1	30819											
CRNN	49860	broad.mit.edu	37	chr1	152383267	152383267	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccagactcttgagagccGcaggctccctcagcactctc	7	9	8	17	1	3	2	1	1	2	2	6	3	5	2	3	1	2	3	3	1	0	2			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr1:152383267G>A	ENST00000271835.3	-	3	353	c.291C>T	c.(289-291)tgC>tgT	p.C97C	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	97					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGAGAGCCGCAGGCTCCCT	0.577																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(289-291)tgC>tgT		cornulin							106	121	116					1																	152383267		2203	4300	6503	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152383267G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.291C>T	1.37:g.152383267G>A						RP1-91G5.3_ENST00000411804.1_RNA	p.C97C	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	353	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		97					B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.291C>T	CCDS1010.1																																																																																				0.577	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		27	136	0	0	0	1	0	27	136					A	152383267	G	A	152383267	2	1	449	1	0	0	0	0	0	0	0	1	3892	1079	38	1		1	CRNN	1	152383267	Silent	SNP	G	TCGA-YL-A8HK-01A-11D-A364-08	102583	152383267	96867354	2	30820											
CCRL2	9034	broad.mit.edu	37	chr3	46450522	46450522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgccgctgtttccatctgCgtagtaacaccccacttcaa	8	12	6	15	2	3	0	1	0	2	0	4	0	4	0	4	0	3	4	4	0	3	4			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr3:46450522C>T	ENST00000399036.3	+	2	1304	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	CCRL2_ENST00000400882.2_Missense_Mutation_p.R318C|CCRL2_ENST00000400880.3_Missense_Mutation_p.R318C|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000357392.4_Missense_Mutation_p.R330C	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	318					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TTTCCATCTGCGTAGTAACAC	0.512																																						ENST00000399036.3																			0											c.(952-954)Cgt>Tgt									148	153	151					3																	46450522		2134	4240	6374	SO:0001583	missense	0							g.chr3:46450522C>T	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"GPCR / Class A : Chemokine receptors : Atypical"	1612	protein-coding gene	gene with protein product	"atypical chemokine receptor 5"	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.952C>T	3.37:g.46450522C>T	ENSP00000381994:p.Arg318Cys					ACKR5_ENST00000400882.2_Missense_Mutation_p.R318C|ACKR5_ENST00000357392.4_Missense_Mutation_p.R330C|ACKR5_ENST00000400880.3_Missense_Mutation_p.R318C	p.R318C	NM_003965.4	NP_003956.2					2	1304	+								B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	ENST00000399036.3	37	c.952C>T	CCDS43079.1	.	.	.	.	.	.	.	.	.	.	C	8.900	0.956104	0.18507	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000400882	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.12	-10.2	0.00374	.	18.041800	0.00899	U	0.002339	T	0.12008	0.0292	N	0.02916	-0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.13229	-1.0517	10	0.22109	T	0.4	.	4.4747	0.11729	0.3124:0.4529:0.091:0.1437	.	330;318	O00421-2;O00421	.;CCRL2_HUMAN	C	318;330;318;318	ENSP00000381994:R318C;ENSP00000349967:R330C;ENSP00000383677:R318C;ENSP00000383678:R318C	ENSP00000349967:R330C	R	+	1	0	CCRL2	46425526	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.356000	0.02609	-2.311000	0.00649	-1.269000	0.01422	CGT		0.512	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2			25	77	0	0	0	1	0	25	77					T	46450522	C	T	46450522	3	4	449	1	0	0	0	0	1	0	0	0	2950	768	27	1	994	1	CCRL2	3	46450522	Missense_Mutation	SNP	C	TCGA-YL-A8HK-01A-11D-A364-08		46450522	151571908	3	30821											
TCTA	6988	broad.mit.edu	37	chr3	49449962	49449962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgggaggcgcaggacatgCgcgtgaccctcttcaagctg	8	7	15	11	3	2	1	1	1	1	0	2	3	2	3	1	3	2	2	1	3	1	1			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr3:49449962C>T	ENST00000273590.3	+	1	324	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	RHOA_ENST00000418115.1_5'Flank|RHOA_ENST00000265538.3_5'UTR|RHOA_ENST00000454011.2_5'Flank|RHOA_ENST00000422781.1_5'Flank|TCTA_ENST00000493381.1_3'UTR	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	35						integral component of membrane (GO:0016021)				large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAGGACATGCGCGTGACCCT	0.652																																						ENST00000273590.3																			0				large_intestine(4)|lung(1)	5						c.(103-105)Cgc>Tgc		T-cell leukemia translocation altered							113	119	117					3																	49449962		2203	4300	6503	SO:0001583	missense	6988					integral to membrane		g.chr3:49449962C>T		CCDS2796.1	3p21	2012-02-27	2012-02-27		ENSG00000145022	ENSG00000145022			11692	protein-coding gene	gene with protein product		600690	"T-cell leukemia translocation altered gene"			7728759	Standard	NM_022171		Approved		uc003cwv.4	P57738	OTTHUMG00000156846	ENST00000273590.3:c.103C>T	3.37:g.49449962C>T	ENSP00000273590:p.Arg35Cys					TCTA_ENST00000493381.1_3'UTR|RHOA_ENST00000265538.3_5'UTR	p.R35C	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	324	+			35					B2R4I4|Q6I9U4|Q9BSB0	Missense_Mutation	SNP	ENST00000273590.3	37	c.103C>T	CCDS2796.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744525	0.89663	.	.	ENSG00000145022	ENST00000273590	.	.	.	5.18	5.18	0.71444	.	0.052704	0.64402	D	0.000001	T	0.65974	0.2743	L	0.32530	0.975	0.58432	D	0.999992	D	0.89917	1.0	D	0.80764	0.994	T	0.68303	-0.5444	9	0.87932	D	0	-25.1906	14.0669	0.64837	0.0:1.0:0.0:0.0	.	35	P57738	TCTA_HUMAN	C	35	.	ENSP00000273590:R35C	R	+	1	0	TCTA	49424966	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.814000	0.38972	2.695000	0.91970	0.555000	0.69702	CGC		0.652	TCTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346210.1	NM_022171		3	52	0	0	0	1	0	3	52					T	49449962	C	T	49449962	3	4	449	1	0	0	0	0	1	0	0	0	15713	768	27	1	105	1	TCTA	3	49449962	Missense_Mutation	SNP	C	TCGA-YL-A8HK-01A-11D-A364-08	2999440	49449962	148572468	4	30822											
SEMA3F	6405	broad.mit.edu	37	chr3	50225399	50225399	+	Frame_Shift_Del	DEL	C	C	-																															tagcccagctgctggcccagCcagaagtgggcctcatccac																										TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr3:50225399delC	ENST00000002829.3	+	19	2693	c.2209delC	c.(2209-2211)ccafs	p.P737fs	SEMA3F_ENST00000413852.1_Frame_Shift_Del_p.P638fs|SEMA3F_ENST00000434342.1_Frame_Shift_Del_p.P706fs	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	737					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GCTGGCCCAGCCAGAAGTGGG	0.697																																						ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(2209-2211)cafs		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							8	10	9					3																	50225399		2170	4243	6413	SO:0001589	frameshift_variant	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50225399delC	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10728	protein-coding gene	gene with protein product	"sema IV"	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.2209delC	3.37:g.50225399delC	ENSP00000002829:p.Pro737fs					SEMA3F_ENST00000413852.1_Frame_Shift_Del_p.P638fs|SEMA3F_ENST00000434342.1_Frame_Shift_Del_p.P706fs	p.P737fs	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	19	2693	+			737					C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Frame_Shift_Del	DEL	ENST00000002829.3	37	c.2209delC	CCDS2811.1																																																																																				0.697	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		2	4						2	4	---	---	---	---	-	50225399	C	-	50225399	7	5	449	1	0	1	0	1	0	0	0	0	14029	739	26	0	2279	0	SEMA3F	3	50225399	Frame_Shift_Del	DEL	C	TCGA-YL-A8HK-01A-11D-A364-08	775437	50225399	147797031	5	30823											
DPPA2	151871	broad.mit.edu	37	chr3	109031399	109031399	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcctcatacctggattGtatttcttaggcttctccag	6	16	7	12	0	3	0	1	0	2	0	5	1	4	1	4	2	1	2	4	2	3	6			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr3:109031399G>A	ENST00000478945.1	-	3	420	c.174C>T	c.(172-174)taC>taT	p.Y58Y		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	58					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TACCTGGATTGTATTTCTTAG	0.413																																						ENST00000478945.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(172-174)taC>taT		developmental pluripotency associated 2							183	167	173					3																	109031399		2203	4300	6503	SO:0001819	synonymous_variant	151871					nucleus	nucleic acid binding	g.chr3:109031399G>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"cancer/testis antigen 100"	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.174C>T	3.37:g.109031399G>A							p.Y58Y	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			3	420	-			58					Q8WVF0	Silent	SNP	ENST00000478945.1	37	c.174C>T	CCDS2956.1																																																																																				0.413	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		12	78	0	0	0	1	0	12	78					A	109031399	G	A	109031399	2	1	449	1	0	0	0	0	0	0	0	1	4734	1372	48	3		3	DPPA2	3	109031399	Silent	SNP	G	TCGA-YL-A8HK-01A-11D-A364-08	58806000	109031399	88991031	6	30824											
CDK7	1022	broad.mit.edu	37	chr5	68555730	68555730	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaaatcttttgggagccCcaatagagcttatacacatc	12	10	8	11	0	1	1	0	0	1	1	2	2	1	2	3	2	3	1	3	2	5	5			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr5:68555730C>G	ENST00000256443.3	+	7	597	c.494C>G	c.(493-495)cCc>cGc	p.P165R	CDK7_ENST00000514676.1_Missense_Mutation_p.P128R|CDK7_ENST00000513629.1_Intron|CDK7_ENST00000502604.1_Missense_Mutation_p.P72R	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		TTTGGGAGCCCCAATAGAGCT	0.413								Nucleotide excision repair (NER)																														ENST00000502604.1																			0				endometrium(1)|lung(2)	3						c.(214-216)cCc>cGc	Nucleotide excision repair (NER)	cyclin-dependent kinase 7							66	69	68					5																	68555730		2203	4300	6503	SO:0001583	missense	1022				androgen receptor signaling pathway|cell division|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|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	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity	g.chr5:68555730C>G		CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"Cyclin-dependent kinases", "General transcription factor IIH complex subunits"	1778	protein-coding gene	gene with protein product		601955	"cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)", "cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.494C>G	5.37:g.68555730C>G	ENSP00000256443:p.Pro165Arg					CDK7_ENST00000513629.1_Intron|CDK7_ENST00000256443.3_Missense_Mutation_p.P165R|CDK7_ENST00000514676.1_Missense_Mutation_p.P128R	p.P72R			P50613	CDK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)	6	705	+		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	165			Protein kinase.		Q9BS60|Q9UE19	Missense_Mutation	SNP	ENST00000256443.3	37	c.215C>G	CCDS3999.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840602	0.91197	.	.	ENSG00000134058	ENST00000506563;ENST00000256443;ENST00000514676;ENST00000502604	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77485	0.4137	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.78537	-0.2166	10	0.87932	D	0	.	18.5748	0.91150	0.0:1.0:0.0:0.0	.	128;165	D6RAD4;P50613	.;CDK7_HUMAN	R	72;165;128;72	ENSP00000425043:P72R;ENSP00000256443:P165R;ENSP00000422737:P128R;ENSP00000422121:P72R	ENSP00000256443:P165R	P	+	2	0	CDK7	68591486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.517000	0.81783	2.764000	0.94973	0.491000	0.48974	CCC		0.413	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216802.3	NM_001799		10	36	0	0	0	1	0	10	36					G	68555730	C	G	68555730	3	3	449	1	0	0	0	0	1	0	0	0	3149	623	22	5	520	5	CDK7	5	68555730	Missense_Mutation	SNP	C	TCGA-YL-A8HK-01A-11D-A364-08		68555730	112359530	7	30825											
FER	2241	broad.mit.edu	37	chr5	108382846	108382846	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccaatattgtcaaacttaTaggagtttgcacacaaagac	15	11	6	9	0	1	1	1	0	0	1	2	2	2	2	1	1	2	2	1	1	6	5			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr5:108382846T>C	ENST00000281092.4	+	16	2255	c.1871T>C	c.(1870-1872)aTa>aCa	p.I624T	FER_ENST00000438717.2_Missense_Mutation_p.I449T	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	624	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			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)		GTCAAACTTATAGGAGTTTGC	0.313																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(1870-1872)aTa>aCa		fer (fps/fes related) tyrosine kinase							114	108	110					5																	108382846		2202	4298	6500	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108382846T>C	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1871T>C	5.37:g.108382846T>C	ENSP00000281092:p.Ile624Thr					FER_ENST00000438717.2_Missense_Mutation_p.I449T	p.I624T	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	16	2255	+		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)	624			Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.1871T>C	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.141011	0.77775	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.36340	1.26;1.26	5.33	5.33	0.75918	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.039246	0.85682	D	0.000000	T	0.65739	0.2720	M	0.87971	2.92	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	T	0.72972	-0.4129	10	0.87932	D	0	-23.5949	15.5911	0.76530	0.0:0.0:0.0:1.0	.	624	P16591	FER_HUMAN	T	624;449	ENSP00000281092:I624T;ENSP00000394297:I449T	ENSP00000281092:I624T	I	+	2	0	FER	108410745	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.417000	0.80156	2.145000	0.66743	0.454000	0.30748	ATA		0.313	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		5	43	0	0	0	1	0	5	43					C	108382846	T	C	108382846	3	2	449	1	0	0	0	0	1	0	0	0	5813	1406	49	4	1925	4	FER	5	108382846	Missense_Mutation	SNP	T	TCGA-YL-A8HK-01A-11D-A364-08	39827116	108382846	72532414	8	30826											
TG	7038	broad.mit.edu	37	chr8	134042179	134042179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggcgcgtgtccctggcaGcagaccgtggcggggctgat	4	7	17	13	5	0	2	0	1	0	1	2	2	1	2	2	5	1	3	2	5	0	0			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr8:134042179G>A	ENST00000220616.4	+	41	7190	c.7150G>A	c.(7150-7152)Gca>Aca	p.A2384T	TG_ENST00000542445.1_Missense_Mutation_p.A754T|TG_ENST00000377869.1_Missense_Mutation_p.A2327T|TG_ENST00000519543.1_Missense_Mutation_p.A517T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2384					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				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)		GTCCCTGGCAGCAGACCGTGG	0.652																																						ENST00000220616.4																			0				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						c.(7150-7152)Gca>Aca		thyroglobulin							54	56	55					8																	134042179		2203	4299	6502	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134042179G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7150G>A	8.37:g.134042179G>A	ENSP00000220616:p.Ala2384Thr					TG_ENST00000542445.1_Missense_Mutation_p.A754T|TG_ENST00000519543.1_Missense_Mutation_p.A517T|TG_ENST00000377869.1_Missense_Mutation_p.A2327T	p.A2384T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	41	7190	+	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)	2384					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.7150G>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.431242|5.431242	0.96150|0.96150	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178;ENST00000518108	T;T;T;T|.	0.58358|.	0.34;0.34;0.34;0.34|.	5.13|5.13	5.13|5.13	0.70059|0.70059	Carboxylesterase, type B (1);|.	0.238117|.	0.35207|.	N|.	0.003378|.	T|T	0.75852|0.75852	0.3906|0.3906	M|M	0.75447|0.75447	2.3|2.3	0.50813|0.50813	D|D	0.999892|0.999892	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.81914|.	0.986;0.995;0.995|.	T|T	0.76386|0.76386	-0.2978|-0.2978	10|5	0.87932|.	D|.	0|.	.|.	17.2154|17.2154	0.86941|0.86941	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	517;754;2384|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	T|N	2327;1190;2384;754;517|839;179	ENSP00000367100:A2327T;ENSP00000220616:A2384T;ENSP00000441693:A754T;ENSP00000430430:A517T|.	ENSP00000220616:A2384T|.	A|S	+|+	1|2	0|0	TG|TG	134111361|134111361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	7.037000|7.037000	0.76531|0.76531	2.407000|2.407000	0.81776|0.81776	0.485000|0.485000	0.47835|0.47835	GCA|AGC		0.652	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		3	40	0	0	0	1	0	3	40					A	134042179	G	A	134042179	3	1	449	1	0	0	0	0	1	0	0	0	15810	971	34	3	7312	3	TG	8	134042179	Missense_Mutation	SNP	G	TCGA-YL-A8HK-01A-11D-A364-08		134042179	12321843	9	30827											
PPP1R16A	84988	broad.mit.edu	37	chr8	145726591	145726591	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggaggccatcgtgtggCaacagccgccgcccaccagc	8	3	12	18	3	0	0	0	0	0	0	1	1	0	1	6	3	3	1	6	3	1	0			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr8:145726591C>T	ENST00000292539.4	+	10	2034	c.1117C>T	c.(1117-1119)Caa>Taa	p.Q373*	PPP1R16A_ENST00000435887.1_Nonsense_Mutation_p.Q373*|GPT_ENST00000394955.2_5'Flank|GPT_ENST00000528431.1_5'Flank|CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	373						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CATCGTGTGGCAACAGCCGCC	0.716																																						ENST00000292539.4																			0				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8						c.(1117-1119)Caa>Taa		protein phosphatase 1, regulatory subunit 16A							19	21	20					8																	145726591		2180	4277	6457	SO:0001587	stop_gained	84988					plasma membrane	protein binding	g.chr8:145726591C>T		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.1117C>T	8.37:g.145726591C>T	ENSP00000292539:p.Gln373*					PPP1R16A_ENST00000435887.1_Nonsense_Mutation_p.Q373*	p.Q373*			Q96I34	PP16A_HUMAN	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)		10	2034	+	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)		373					D3DWM5	Nonsense_Mutation	SNP	ENST00000292539.4	37	c.1117C>T	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943132	0.92526	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	.	.	.	4.72	3.78	0.43462	.	0.247880	0.36303	N	0.002677	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	11.3091	0.49353	0.183:0.817:0.0:0.0	.	.	.	.	X	373	.	ENSP00000292539:Q373X	Q	+	1	0	PPP1R16A	145697399	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.766000	0.55280	2.153000	0.67306	0.462000	0.41574	CAA		0.716	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		3	10	0	0	0	1	0	3	10					T	145726591	C	T	145726591	4	4	449	1	0	0	0	0	0	1	0	0	12365	711	25	3	1151	3	PPP1R16A	8	145726591	Nonsense_Mutation	SNP	C	TCGA-YL-A8HK-01A-11D-A364-08	11684412	145726591	637431	10	30828											
FAM75A6	389730	broad.mit.edu	37	chr9	43627100	43627100	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttcaggtagggagagagcTtgcactttattctgcgatgc	8	13	13	7	1	2	1	1	0	1	1	2	4	2	2	0	2	4	4	0	2	2	6			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr9:43627100T>C	ENST00000332857.6	-	4	1615	c.1587A>G	c.(1585-1587)caA>caG	p.Q529Q	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	529					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGGAGAGAGCTTGCACTTTAT	0.483																																						ENST00000332857.6																			0											c.(1585-1587)caA>caG		SPATA31 subfamily A, member 6							7	8	7					9																	43627100		598	1511	2109	SO:0001819	synonymous_variant	389730							g.chr9:43627100T>C		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1587A>G	9.37:g.43627100T>C							p.Q529Q	NM_001145196.1	NP_001138668.1					4	1615	-									Silent	SNP	ENST00000332857.6	37	c.1587A>G	CCDS47973.1																																																																																				0.483	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		50	169	0	0	0	1	0	50	169					C	43627100	T	C	43627100	2	2	449	1	0	0	0	0	0	0	0	1	5622	1606	56	4		4	FAM75A6	9	43627100	Silent	SNP	T	TCGA-YL-A8HK-01A-11D-A364-08		43627100	97586331	11	30829											
GARNL3	84253	broad.mit.edu	37	chr9	130098420	130098420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacaggtggaaaggaaacGccacattggaaacgatatcg	16	6	11	8	3	0	0	0	0	0	0	1	4	0	3	1	4	3	0	1	4	5	3			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr9:130098420G>A	ENST00000373387.4	+	11	1239	c.887G>A	c.(886-888)cGc>cAc	p.R296H	GARNL3_ENST00000314904.5_Missense_Mutation_p.R296H|GARNL3_ENST00000435213.2_Missense_Mutation_p.R274H	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	296	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GAAAGGAAACGCCACATTGGA	0.413																																						ENST00000373387.4																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(886-888)cGc>cAc		GTPase activating Rap/RanGAP domain-like 3							152	119	130					9																	130098420		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130098420G>A	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 3"			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.887G>A	9.37:g.130098420G>A	ENSP00000362485:p.Arg296His					GARNL3_ENST00000435213.2_Missense_Mutation_p.R274H|GARNL3_ENST00000314904.5_Missense_Mutation_p.R296H	p.R296H	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN			11	1239	+			296			Rap-GAP.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.887G>A	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	33	5.194126	0.94960	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	D;D;D	0.96967	-4.19;-4.19;-4.19	5.11	5.11	0.69529	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.98826	0.9604	H	0.96633	3.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.993	D	0.99705	1.1005	9	.	.	.	.	17.1185	0.86695	0.0:0.0:1.0:0.0	.	296;274;237	Q5VVW2;B7Z3Q6;Q5VVW4	GARL3_HUMAN;.;.	H	274;296;296	ENSP00000396205:R274H;ENSP00000313970:R296H;ENSP00000362485:R296H	.	R	+	2	0	GARNL3	129138241	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.245000	0.95431	2.376000	0.81061	0.655000	0.94253	CGC		0.413	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		7	29	0	0	0	1	0	7	29					A	130098420	G	A	130098420	3	1	449	1	0	0	0	0	1	0	0	0	6241	1087	38	1	929	1	GARNL3	9	130098420	Missense_Mutation	SNP	G	TCGA-YL-A8HK-01A-11D-A364-08	86471320	130098420	11115011	12	30830											
COPB1	1315	broad.mit.edu	37	chr11	14480108	14480108	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacgaattcttatatggccGgtaacagcagcatctggtcc	10	10	10	11	2	2	0	0	0	2	0	3	1	3	0	2	3	3	4	2	3	4	4			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:14480108G>A	ENST00000249923.3	-	21	3072	c.2772C>T	c.(2770-2772)acC>acT	p.T924T	COPB1_ENST00000439561.2_Silent_p.T924T	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	924					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			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						TTATATGGCCGGTAACAGCAG	0.433																																						ENST00000249923.3																			0				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						c.(2770-2772)acC>acT		coatomer protein complex, subunit beta 1							81	82	81					11																	14480108		2200	4294	6494	SO:0001819	synonymous_variant	1315				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	g.chr11:14480108G>A	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2772C>T	11.37:g.14480108G>A						COPB1_ENST00000439561.2_Silent_p.T924T	p.T924T	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			21	3072	-			924					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Silent	SNP	ENST00000249923.3	37	c.2772C>T	CCDS7815.1																																																																																				0.433	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		3	64	0	0	0	1	0	3	64					A	14480108	G	A	14480108	2	1	449	1	0	0	0	0	0	0	0	1	3728	1103	39	2		2	COPB1	11	14480108	Silent	SNP	G	TCGA-YL-A8HK-01A-11D-A364-08		14480108	120526408	13	30831											
FANCF	2188	broad.mit.edu	37	chr11	22647295	22647295	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtcccaggtgctgacgtagGtagtgcttgagaccgccaga	8	8	15	10	2	0	3	0	2	0	2	1	4	1	3	3	3	2	4	3	3	2	3			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:22647295G>C	ENST00000327470.3	-	1	92	c.62C>G	c.(61-63)aCc>aGc	p.T21S	AC103801.2_ENST00000428556.2_3'UTR	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	21					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GCTGACGTAGGTAGTGCTTGA	0.637			"N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000327470.3			yes	Rec		Fanconi anaemia F	11	11p15	2188	"N, F"	"Fanconi anemia, complementation group F"			L		"AML, leukemia"			0				kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						c.(61-63)aCc>aGc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group F							45	47	46					11																	22647295		2203	4300	6503	SO:0001583	missense	2188	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr11:22647295G>C		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"Fanconi anemia, complementation groups"	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.62C>G	11.37:g.22647295G>C	ENSP00000330875:p.Thr21Ser					AC103801.2_ENST00000428556.2_3'UTR	p.T21S	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN			1	92	-			21					Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	c.62C>G	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.257039	0.01457	.	.	ENSG00000183161	ENST00000327470	T	0.30981	1.51	5.39	0.924	0.19418	.	1.035320	0.07670	N	0.935373	T	0.19005	0.0456	N	0.15975	0.35	0.09310	N	0.999996	B	0.02656	0.0	B	0.08055	0.003	T	0.27938	-1.0059	10	0.20519	T	0.43	-0.8619	12.0326	0.53406	0.0:0.3999:0.4876:0.1125	.	21	Q9NPI8	FANCF_HUMAN	S	21	ENSP00000330875:T21S	ENSP00000330875:T21S	T	-	2	0	FANCF	22603871	0.001000	0.12720	0.002000	0.10522	0.008000	0.06430	0.616000	0.24344	0.327000	0.23409	0.655000	0.94253	ACC		0.637	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		8	15	0	0	0	1	0	8	15					C	22647295	G	C	22647295	3	2	449	1	0	0	0	0	1	0	0	0	5667	1261	44	5	1066	5	FANCF	11	22647295	Missense_Mutation	SNP	G	TCGA-YL-A8HK-01A-11D-A364-08	8167187	22647295	112359221	14	30832											
DEPDC7	91614	broad.mit.edu	37	chr11	33050184	33050184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagaagaaacaattgggCgtctactacaacttgtagac	15	8	10	8	1	1	3	0	0	1	3	1	3	1	3	0	2	4	2	0	2	8	5			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:33050184C>T	ENST00000241051.3	+	4	720	c.628C>T	c.(628-630)Cgt>Tgt	p.R210C	DEPDC7_ENST00000311388.3_Missense_Mutation_p.R201C	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	210					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						AACAATTGGGCGTCTACTACA	0.383																																						ENST00000311388.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(601-603)Cgt>Tgt		DEP domain containing 7							89	82	84					11																	33050184		1868	4105	5973	SO:0001583	missense	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33050184C>T		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.628C>T	11.37:g.33050184C>T	ENSP00000241051:p.Arg210Cys					DEPDC7_ENST00000241051.3_Missense_Mutation_p.R210C	p.R201C	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN			4	977	+			210					G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	c.601C>T	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638348	0.47153	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.16597	2.33;2.34	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.44307	0.1287	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.04708	-1.0932	10	0.48119	T	0.1	-14.9224	20.6593	0.99626	0.0:1.0:0.0:0.0	.	201;210	G5E941;Q96QD5	.;DEPD7_HUMAN	C	210;201	ENSP00000241051:R210C;ENSP00000308971:R201C	ENSP00000241051:R210C	R	+	1	0	DEPDC7	33006760	1.000000	0.71417	0.995000	0.50966	0.090000	0.18270	4.212000	0.58514	2.885000	0.99019	0.655000	0.94253	CGT		0.383	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		11	50	0	0	0	1	0	11	50					T	33050184	C	T	33050184	3	4	449	1	0	0	0	0	1	0	0	0	4444	768	27	1	692	1	DEPDC7	11	33050184	Missense_Mutation	SNP	C	TCGA-YL-A8HK-01A-11D-A364-08	10402889	33050184	101956332	15	30833											
PAMR1	25891	broad.mit.edu	37	chr11	35456159	35456159	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcatggtgaccttcccCaggtcagtaacacagtgggc	9	10	11	11	0	2	2	2	2	0	0	3	2	3	2	3	3	1	1	3	3	1	3			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:35456159C>G	ENST00000378880.2	-	10	1972	c.1527G>C	c.(1525-1527)ctG>ctC	p.L509L	PAMR1_ENST00000278360.3_Silent_p.L526L|PAMR1_ENST00000532848.1_Silent_p.L469L|PAMR1_ENST00000378878.3_Silent_p.L398L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	509	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGACCTTCCCCAGGTCAGTAA	0.557																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(1525-1527)ctG>ctC		peptidase domain containing associated with muscle regeneration 1							111	98	102					11																	35456159		2202	4298	6500	SO:0001819	synonymous_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35456159C>G		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1527G>C	11.37:g.35456159C>G						PAMR1_ENST00000278360.3_Silent_p.L526L|PAMR1_ENST00000532848.1_Silent_p.L469L|PAMR1_ENST00000378878.3_Silent_p.L398L	p.L509L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			10	1972	-			509			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP	ENST00000378880.2	37	c.1527G>C	CCDS31460.1																																																																																				0.557	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		15	48	0	0	0	1	0	15	48					G	35456159	C	G	35456159	2	3	449	1	0	0	0	0	0	0	0	1	11413	581	21	5		5	PAMR1	11	35456159	Silent	SNP	C	TCGA-YL-A8HK-01A-11D-A364-08	2405975	35456159	99550357	16	30834											
OR4D6	219983	broad.mit.edu	37	chr11	59225187	59225187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtgactcttcacttcGtgccttgtgtttacatctac	5	17	9	10	1	3	1	1	1	2	0	4	1	3	1	1	2	3	1	1	2	2	6	rs147116622		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:59225187G>A	ENST00000300127.2	+	1	777	c.754G>A	c.(754-756)Gtg>Atg	p.V252M		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCTTCACTTCGTGCCTTGTGT	0.547													G|||	1	0.000199681	0	0	5008	,	,		20402	0		0.001	False		,,,				2504	0					ENST00000300127.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(754-756)Gtg>Atg		olfactory receptor, family 4, subfamily D, member 6		G	MET/VAL	3,4399	6.2+/-15.9	0,3,2198	113	105	108		754	2.1	0	11	dbSNP_134	108	17,8573	12.6+/-44.7	0,17,4278	yes	missense	OR4D6	NM_001004708.1	21	0,20,6476	AA,AG,GG		0.1979,0.0682,0.1539	probably-damaging	252/315	59225187	20,12972	2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59225187G>A	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"GPCR / Class A : Olfactory receptors"	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.754G>A	11.37:g.59225187G>A	ENSP00000300127:p.Val252Met						p.V252M	NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN			1	777	+			252					B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.754G>A	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	G	9.195	1.026896	0.19512	6.82E-4	0.001979	ENSG00000166884	ENST00000300127	T	0.39787	1.06	6.01	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	0.137675	0.32785	N	0.005651	T	0.54983	0.1892	M	0.76002	2.32	0.09310	N	1	D	0.76494	0.999	D	0.68353	0.957	T	0.45818	-0.9235	10	0.56958	D	0.05	-6.2803	3.9148	0.09219	0.2835:0.0:0.4551:0.2614	.	252	Q8NGJ1	OR4D6_HUMAN	M	252	ENSP00000300127:V252M	ENSP00000300127:V252M	V	+	1	0	OR4D6	58981763	0.000000	0.05858	0.028000	0.17463	0.078000	0.17371	0.379000	0.20585	0.134000	0.18681	-0.136000	0.14681	GTG		0.547	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		5	55	0	0	0	1	0	5	55					A	59225187	G	A	59225187	3	1	449	1	0	0	0	0	1	0	0	0	11058	1145	40	1	756	1	OR4D6	11	59225187	Missense_Mutation	SNP	G	TCGA-YL-A8HK-01A-11D-A364-08	23769028	59225187	75781329	17	30835											
FAM181B	220382	broad.mit.edu	37	chr11	82443541	82443541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccccttcccaaaccccgtCggatctccaaaggctggaat	9	7	8	17	3	1	0	0	0	1	0	4	2	2	2	6	3	1	1	6	3	3	1			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:82443541C>T	ENST00000329203.3	-	1	1365	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	411										large_intestine(1)|lung(2)|prostate(1)	4						CAAACCCCGTCGGATCTCCAA	0.692																																						ENST00000329203.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(1231-1233)Gac>Aac		family with sequence similarity 181, member B							11	14	13					11																	82443541		2169	4253	6422	SO:0001583	missense	220382							g.chr11:82443541C>T	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.1231G>A	11.37:g.82443541C>T	ENSP00000365295:p.Asp411Asn						p.D411N	NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN			1	1365	-			411					B2RWP1	Missense_Mutation	SNP	ENST00000329203.3	37	c.1231G>A	CCDS31648.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099700	0.76983	.	.	ENSG00000182103	ENST00000329203	T	0.39056	1.1	4.87	3.91	0.45181	.	.	.	.	.	T	0.45498	0.1345	N	0.24115	0.695	0.21861	N	0.999503	D	0.76494	0.999	P	0.62649	0.905	T	0.22347	-1.0219	8	.	.	.	.	11.7272	0.51716	0.1753:0.8247:0.0:0.0	.	411	A6NEQ2	F181B_HUMAN	N	411	ENSP00000365295:D411N	.	D	-	1	0	FAM181B	82121189	0.643000	0.27269	0.839000	0.33178	0.961000	0.63080	1.075000	0.30716	2.522000	0.85027	0.655000	0.94253	GAC		0.692	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		3	14	0	0	0	1	0	3	14					T	82443541	C	T	82443541	3	4	449	1	0	0	0	0	1	0	0	0	5509	884	31	2	53	2	FAM181B	11	82443541	Missense_Mutation	SNP	C	TCGA-YL-A8HK-01A-11D-A364-08	23218354	82443541	52562975	18	30836											
GRIN2B	2904	broad.mit.edu	37	chr12	13716215	13716215	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcaggcttacgctgcgCggggccagggcggcttcttc	3	11	14	13	4	3	0	1	0	2	0	4	0	3	0	1	5	2	3	1	5	1	4	rs141730031		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr12:13716215C>T	ENST00000609686.1	-	13	4166	c.3957G>A	c.(3955-3957)ccG>ccA	p.P1319P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1319					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			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					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTACGCTGCGCGGGGCCAGGG	0.582																																						ENST00000279593.3																			0				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						c.(3955-3957)ccG>ccA		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	C		0,4406		0,0,2203	66	75	72		3957	-6.4	0.8	12	dbSNP_134	72	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	GRIN2B	NM_000834.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		1319/1485	13716215	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2904				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	g.chr12:13716215C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3957G>A	12.37:g.13716215C>T							p.P1319P	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	4166	-			1319					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.3957G>A	CCDS8662.1																																																																																				0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			7	37	0	0	0	1	0	7	37					T	13716215	C	T	13716215	2	4	449	1	0	0	0	0	0	0	0	1	6780	755	27	1		1	GRIN2B	12	13716215	Silent	SNP	C	TCGA-YL-A8HK-01A-11D-A364-08		13716215	120135680	19	30837											
SLC2A13	114134	broad.mit.edu	37	chr12	40158559	40158559	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggtgcaaagaagacaagaTataaaataaggcccagaagt	20	5	10	6	0	0	4	0	0	0	4	0	4	0	4	1	2	1	1	1	2	8	3			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr12:40158559T>C	ENST00000280871.4	-	8	1597	c.1547A>G	c.(1546-1548)tAt>tGt	p.Y516C		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	516					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			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)				GAAGACAAGATATAAAATAAG	0.333										HNSCC(50;0.14)																												ENST00000280871.4																			0				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						c.(1546-1548)tAt>tGt		solute carrier family 2 (facilitated glucose transporter), member 13							111	124	120					12																	40158559		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40158559T>C	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"Solute carriers"	15956	protein-coding gene	gene with protein product	"H(+)-myo-inositol symporter"	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1547A>G	12.37:g.40158559T>C	ENSP00000280871:p.Tyr516Cys	HNSCC(50;0.14)					p.Y516C	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			8	1597	-		Lung NSC(34;0.105)|all_lung(34;0.123)	516					Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.1547A>G	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	T	20.6	4.017176	0.75161	.	.	ENSG00000151229	ENST00000280871	T	0.77229	-1.08	5.39	5.39	0.77823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90752	0.7097	M	0.93150	3.385	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	D	0.93176	0.6570	10	0.87932	D	0	-11.6769	15.4273	0.75061	0.0:0.0:0.0:1.0	.	516	Q96QE2	MYCT_HUMAN	C	516	ENSP00000280871:Y516C	ENSP00000280871:Y516C	Y	-	2	0	SLC2A13	38444826	1.000000	0.71417	0.983000	0.44433	0.914000	0.54420	5.696000	0.68287	2.049000	0.60858	0.528000	0.53228	TAT		0.333	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			7	38	0	0	0	1	0	7	38					C	40158559	T	C	40158559	3	2	449	1	0	0	0	0	1	0	0	0	14542	1406	49	4	411	4	SLC2A13	12	40158559	Missense_Mutation	SNP	T	TCGA-YL-A8HK-01A-11D-A364-08	26442344	40158559	93693336	20	30838											
LRP1	4035	broad.mit.edu	37	chr12	57593708	57593708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggctgcagcaacctgtGcctgctgtcccccgggggag	4	8	16	13	1	0	0	0	0	0	0	1	1	1	1	4	4	5	4	4	4	1	0			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr12:57593708G>A	ENST00000243077.3	+	62	10380	c.9914G>A	c.(9913-9915)tGc>tAc	p.C3305Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3305	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			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)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGCAACCTGTGCCTGCTGTCC	0.587																																						ENST00000243077.3																			0				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						c.(9913-9915)tGc>tAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						80	77	78					12																	57593708		2203	4300	6503	SO:0001583	missense	4035				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	g.chr12:57593708G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9914G>A	12.37:g.57593708G>A	ENSP00000243077:p.Cys3305Tyr						p.C3305Y	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	62	10380	+			3305			EGF-like 13.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.9914G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400426	0.62177	.	.	ENSG00000123384	ENST00000243077	D	0.99966	-10.09	4.37	4.37	0.52481	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000001	D	0.99984	0.9995	H	0.99712	4.72	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.99406	1.0929	10	0.72032	D	0.01	.	15.8872	0.79261	0.0:0.0:1.0:0.0	.	3305	Q07954	LRP1_HUMAN	Y	3305	ENSP00000243077:C3305Y	ENSP00000243077:C3305Y	C	+	2	0	LRP1	55879975	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.796000	0.85898	2.272000	0.75746	0.456000	0.33151	TGC		0.587	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		9	48	0	0	0	1	0	9	48					A	57593708	G	A	57593708	3	1	449	1	0	0	0	0	1	0	0	0	8951	1319	46	3	10160	3	LRP1	12	57593708	Missense_Mutation	SNP	G	TCGA-YL-A8HK-01A-11D-A364-08	17435149	57593708	76258187	21	30839											
GAS2L3	283431	broad.mit.edu	37	chr12	101018420	101018420	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcctggccgtaccccaCtgtccatcgtgagcctaccc	6	9	8	18	2	1	1	0	1	1	0	4	1	2	1	7	1	3	1	7	1	2	2			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr12:101018420C>T	ENST00000539410.1	+	9	2223	c.1837C>T	c.(1837-1839)Ctg>Ttg	p.L613L	GAS2L3_ENST00000266754.5_Silent_p.L613L|GAS2L3_ENST00000537247.1_Silent_p.L509L|GAS2L3_ENST00000547754.1_Silent_p.L613L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	613					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			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						CCGTACCCCACTGTCCATCGT	0.488																																						ENST00000537247.1																			0				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						c.(1525-1527)Ctg>Ttg		growth arrest-specific 2 like 3							99	88	92					12																	101018420		2203	4300	6503	SO:0001819	synonymous_variant	283431				cell cycle arrest			g.chr12:101018420C>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1837C>T	12.37:g.101018420C>T						GAS2L3_ENST00000266754.5_Silent_p.L613L|GAS2L3_ENST00000539410.1_Silent_p.L613L|GAS2L3_ENST00000547754.1_Silent_p.L613L	p.L509L			Q86XJ1	GA2L3_HUMAN			10	2479	+			613					B2RCN2	Silent	SNP	ENST00000539410.1	37	c.1525C>T	CCDS9079.1																																																																																				0.488	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		10	35	0	0	0	1	0	10	35					T	101018420	C	T	101018420	2	4	449	1	0	0	0	0	0	0	0	1	6248	564	20	3		3	GAS2L3	12	101018420	Silent	SNP	C	TCGA-YL-A8HK-01A-11D-A364-08	43424712	101018420	32833475	22	30840											
ALPK3	57538	broad.mit.edu	37	chr15	85402608	85402608	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatcagcgcccagtgggcGaggtgggcaggaggtaagcc	9	4	19	9	2	1	0	1	0	0	0	1	3	1	2	2	6	2	2	2	6	1	1	rs142686791		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr15:85402608G>T	ENST00000258888.5	+	7	4725	c.4558G>T	c.(4558-4560)Gag>Tag	p.E1520*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1520	Ig-like 2.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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)			CCCAGTGGGCGAGGTGGGCAG	0.552																																						ENST00000258888.5																			0				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						c.(4558-4560)Gag>Tag		alpha-kinase 3							65	56	59					15																	85402608		2203	4299	6502	SO:0001587	stop_gained	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85402608G>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4558G>T	15.37:g.85402608G>T	ENSP00000258888:p.Glu1520*						p.E1520*	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		7	4725	+			1520			Ig-like 2.		Q9P2L6	Nonsense_Mutation	SNP	ENST00000258888.5	37	c.4558G>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	45	11.739213	0.99597	.	.	ENSG00000136383	ENST00000258888	.	.	.	5.65	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-32.2291	9.244	0.37513	0.1651:0.0:0.8349:0.0	.	.	.	.	X	1520	.	ENSP00000258888:E1520X	E	+	1	0	ALPK3	83203612	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.050000	0.64251	2.664000	0.90586	0.655000	0.94253	GAG		0.552	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		8	34	1	0	2.62144e-13	1	2.70336e-13	8	34					T	85402608	G	T	85402608	4	4	449	1	0	0	0	0	0	1	0	0	546	1059	37	5	4584	5	ALPK3	15	85402608	Nonsense_Mutation	SNP	G	TCGA-YL-A8HK-01A-11D-A364-08		85402608	17128784	23	30841											
RNF40	9810	broad.mit.edu	37	chr16	30774767	30774767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtggaagcccttctccGatgccatgagagccaggggg	9	7	14	11	1	1	1	0	1	1	1	2	4	1	2	4	3	4	0	4	3	2	1	rs556209638		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr16:30774767G>T	ENST00000324685.6	+	4	764	c.329G>T	c.(328-330)cGa>cTa	p.R110L	C16orf93_ENST00000545825.1_5'Flank|C16orf93_ENST00000541260.1_5'Flank|RNF40_ENST00000357890.5_Missense_Mutation_p.R110L|C16orf93_ENST00000543610.1_5'Flank|RNF40_ENST00000563683.1_Missense_Mutation_p.R110L|RNF40_ENST00000402121.3_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	110					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCCCTTCTCCGATGCCATGAG	0.542																																						ENST00000324685.6																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(328-330)cGa>cTa		ring finger protein 40, E3 ubiquitin protein ligase							75	75	75					16																	30774767		2197	4300	6497	SO:0001583	missense	9810				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	g.chr16:30774767G>T	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.329G>T	16.37:g.30774767G>T	ENSP00000325677:p.Arg110Leu					RNF40_ENST00000357890.5_Missense_Mutation_p.R110L|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Missense_Mutation_p.R110L	p.R110L	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		4	764	+			110					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.329G>T	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339131	0.60963	.	.	ENSG00000103549	ENST00000324685;ENST00000357890	T;T	0.33654	1.4;1.42	5.84	4.87	0.63330	.	0.369008	0.28093	N	0.016626	T	0.29850	0.0746	L	0.43152	1.355	0.80722	D	1	B;B;B	0.30281	0.275;0.117;0.117	B;B;B	0.29716	0.061;0.106;0.106	T	0.13845	-1.0494	10	0.66056	D	0.02	-1.0246	8.2887	0.31943	0.1799:0.0:0.8201:0.0	.	110;110;110	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	L	110	ENSP00000325677:R110L;ENSP00000350563:R110L	ENSP00000325677:R110L	R	+	2	0	RNF40	30682268	0.546000	0.26457	0.986000	0.45419	0.982000	0.71751	1.765000	0.38481	1.438000	0.47492	0.563000	0.77884	CGA		0.542	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		13	32	1	0	2.62699e-14	1	2.79647e-14	13	32					T	30774767	G	T	30774767	3	4	449	1	0	0	0	0	1	0	0	0	13493	1058	37	5	339	5	RNF40	16	30774767	Missense_Mutation	SNP	G	TCGA-YL-A8HK-01A-11D-A364-08		30774767	59579986	24	30842											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(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	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	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)				TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	26	0	0	0	1	0	7	26					T	7577538	C	T	7577538	3	4	449	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-YL-A8HK-01A-11D-A364-08		7577538	73617672	25	30843											
OR7A10	390892	broad.mit.edu	37	chr19	14952014	14952014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagctgatgagattgcacGtatggaggaaactatcttag	12	11	12	6	1	1	3	0	3	1	1	1	6	1	5	0	2	3	3	0	2	4	4			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr19:14952014G>A	ENST00000248058.1	-	1	675	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					GAGATTGCACGTATGGAGGAA	0.458																																						ENST00000248058.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19						c.(676-678)Cgt>Tgt		olfactory receptor, family 7, subfamily A, member 10							76	68	71					19																	14952014		2203	4300	6503	SO:0001583	missense	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14952014G>A		CCDS32936.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.676C>T	19.37:g.14952014G>A	ENSP00000248058:p.Arg226Cys						p.R226C	NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN			1	675	-	Ovarian(108;0.203)		226					Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	c.676C>T	CCDS32936.1	.	.	.	.	.	.	.	.	.	.	g	0.819	-0.749385	0.03065	.	.	ENSG00000127515	ENST00000248058	T	0.00084	8.75	2.75	-4.01	0.04045	GPCR, rhodopsin-like superfamily (1);	1.298900	0.05838	N	0.618728	T	0.00073	0.0002	N	0.12887	0.27	0.09310	N	1	B	0.16396	0.017	B	0.17098	0.017	T	0.02075	-1.1218	10	0.25106	T	0.35	.	8.9617	0.35851	0.7274:0.0:0.2726:0.0	.	226	O76100	OR7AA_HUMAN	C	226	ENSP00000248058:R226C	ENSP00000248058:R226C	R	-	1	0	OR7A10	14813014	0.000000	0.05858	0.000000	0.03702	0.566000	0.35808	-2.495000	0.00971	-0.603000	0.05767	0.134000	0.15878	CGT		0.458	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		8	31	0	0	0	1	0	8	31					A	14952014	G	A	14952014	3	1	449	1	0	0	0	0	1	0	0	0	11214	1145	40	1	257	1	OR7A10	19	14952014	Missense_Mutation	SNP	G	TCGA-YL-A8HK-01A-11D-A364-08		14952014	44176969	26	30844											
SALL4	57167	broad.mit.edu	37	chr20	50407255	50407255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactggaacggtctctccccGgtgtgggtgcgataatgcat	7	10	13	11	3	1	0	0	0	1	0	3	2	2	1	2	4	3	1	2	4	2	1	rs201329321		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr20:50407255G>A	ENST00000217086.4	-	2	1878	c.1767C>T	c.(1765-1767)acC>acT	p.T589T	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	589					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						GTCTCTCCCCGGTGTGGGTGC	0.507													G|||	1	0.000199681	0	0	5008	,	,		19405	0.001		0	False		,,,				2504	0					ENST00000217086.4																			0				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						c.(1765-1767)acC>acT		spalt-like transcription factor 4							93	82	86					20																	50407255		2203	4300	6503	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407255G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1767C>T	20.37:g.50407255G>A						SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	p.T589T	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	1878	-			589					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.1767C>T	CCDS13438.1																																																																																				0.507	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			13	32	0	0	0	1	0	13	32					A	50407255	G	A	50407255	2	1	449	1	0	0	0	0	0	0	0	1	13813	1103	39	2		2	SALL4	20	50407255	Silent	SNP	G	TCGA-YL-A8HK-01A-11D-A364-08		50407255	12618265	27	30845											
HP1BP3	50809	broad.mit.edu	37	chr1	21083722	21083722	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccctctctactgctctCtgcagagcgttcttcaacag	6	12	8	15	1	4	1	1	0	3	1	6	1	4	1	2	1	5	3	2	1	2	3			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr1:21083722C>A	ENST00000312239.5	-	9	1057	c.918G>T	c.(916-918)caG>caT	p.Q306H	HP1BP3_ENST00000375003.2_Missense_Mutation_p.Q154H	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	306	H15 2. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CTACTGCTCTCTGCAGAGCGT	0.418																																						ENST00000375003.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16						c.(460-462)caG>caT		heterochromatin protein 1, binding protein 3							76	74	75					1																	21083722		2203	4300	6503	SO:0001583	missense	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21083722C>A	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.918G>T	1.37:g.21083722C>A	ENSP00000312625:p.Gln306His					HP1BP3_ENST00000312239.5_Missense_Mutation_p.Q306H	p.Q154H			Q5SSJ5	HP1B3_HUMAN		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)	5	1962	-		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)	306					A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	ENST00000312239.5	37	c.462G>T	CCDS30621.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.334969	0.41398	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000375003;ENST00000419948;ENST00000438032;ENST00000424732	T;T;T;T;T	0.23348	1.96;1.96;1.96;1.96;1.91	5.87	4.01	0.46588	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.219820	0.47455	D	0.000228	T	0.21468	0.0517	L	0.33485	1.01	0.80722	D	1	B;B	0.13145	0.006;0.007	B;B	0.18871	0.012;0.023	T	0.03212	-1.1060	10	0.72032	D	0.01	-2.6577	12.6304	0.56655	0.0:0.8656:0.0:0.1344	.	268;306	Q5SSJ5-2;Q5SSJ5	.;HP1B3_HUMAN	H	306;268;154;165;306;268	ENSP00000312625:Q306H;ENSP00000364142:Q154H;ENSP00000391721:Q165H;ENSP00000403039:Q306H;ENSP00000402754:Q268H	ENSP00000312625:Q306H	Q	-	3	2	HP1BP3	20956309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.800000	0.47900	0.831000	0.34780	0.585000	0.79938	CAG		0.418	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		3	72	1	0	0.115264	1	0.115264	3	72					A	21083722	C	A	21083722	3	1	450	1	0	0	0	0	1	0	0	0	7328	912	32	5	763	5	HP1BP3	1	21083722	Missense_Mutation	SNP	C	TCGA-YL-A8HL-01A-11D-A364-08		21083722	228166899	1	30846											
BCAR3	8412	broad.mit.edu	37	chr1	94032967	94032967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtcggttccttcaaaaGtcacagcctggcgctccatt	9	11	8	13	2	2	0	2	0	0	0	5	0	4	0	3	2	1	2	3	2	2	3			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr1:94032967G>A	ENST00000370244.1	-	13	2456	c.2168C>T	c.(2167-2169)aCt>aTt	p.T723I	BCAR3_ENST00000539242.1_Missense_Mutation_p.T399I|BCAR3_ENST00000370247.3_Missense_Mutation_p.T632I|BCAR3_ENST00000370243.1_Missense_Mutation_p.T723I|BCAR3_ENST00000260502.6_Missense_Mutation_p.T723I	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	723	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TCCTTCAAAAGTCACAGCCTG	0.502																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(2167-2169)aCt>aTt		breast cancer anti-estrogen resistance 3							142	128	133					1																	94032967		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94032967G>A	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2168C>T	1.37:g.94032967G>A	ENSP00000359264:p.Thr723Ile					BCAR3_ENST00000370243.1_Missense_Mutation_p.T723I|BCAR3_ENST00000539242.1_Missense_Mutation_p.T399I|BCAR3_ENST00000370247.3_Missense_Mutation_p.T632I|BCAR3_ENST00000260502.6_Missense_Mutation_p.T723I	p.T723I	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	13	2456	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	723			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.2168C>T	CCDS745.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943706	0.34283	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.85	3.01	0.34805	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.441828	0.27266	N	0.020152	T	0.05868	0.0153	N	0.17674	0.51	0.28398	N	0.918778	B;B	0.23854	0.092;0.015	B;B	0.20955	0.032;0.016	T	0.38329	-0.9666	10	0.21540	T	0.41	-24.1593	7.5338	0.27697	0.4417:0.0:0.5583:0.0	.	723;632	O75815;Q5TEW3	BCAR3_HUMAN;.	I	632;723;723;723;399	ENSP00000359267:T632I;ENSP00000260502:T723I;ENSP00000359264:T723I;ENSP00000359263:T723I;ENSP00000441343:T399I	ENSP00000260502:T723I	T	-	2	0	BCAR3	93805555	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	2.340000	0.43974	0.406000	0.25560	-0.122000	0.15005	ACT		0.502	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			27	22	0	0	0	1	0	27	22					A	94032967	G	A	94032967	3	1	450	1	0	0	0	0	1	0	0	0	1349	1029	36	3	317	3	BCAR3	1	94032967	Missense_Mutation	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08	72949245	94032967	155217654	2	30847											
ARHGAP30	257106	broad.mit.edu	37	chr1	161019032	161019032	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttcaggcctggggccagcGgagtccagggaacagcagct	9	5	15	12	1	1	0	1	0	0	0	2	2	2	2	3	5	4	2	3	5	1	1	rs150907238	byFrequency	TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr1:161019032G>A	ENST00000368013.3	-	12	2099	c.1779C>T	c.(1777-1779)tcC>tcT	p.S593S	ARHGAP30_ENST00000368015.1_Silent_p.S416S|ARHGAP30_ENST00000368016.3_Silent_p.S593S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	593					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			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)			TGGGGCCAGCGGAGTCCAGGG	0.572													G|||	4	0.000798722	8e-04	0.0014	5008	,	,		21367	0.001		0.001	False		,,,				2504	0					ENST00000368013.3																			0				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						c.(1777-1779)tcC>tcT		Rho GTPase activating protein 30		G	,	7,4399	12.9+/-30.5	0,7,2196	97	103	101		1779,1779	-4.6	0	1	dbSNP_134	101	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ARHGAP30	NM_001025598.1,NM_181720.2	,	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	,	593/1102,593/891	161019032	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161019032G>A	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.1779C>T	1.37:g.161019032G>A						ARHGAP30_ENST00000368015.1_Silent_p.S416S|ARHGAP30_ENST00000368016.3_Silent_p.S593S	p.S593S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		12	2099	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		593					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	ENST00000368013.3	37	c.1779C>T	CCDS30918.1																																																																																				0.572	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		23	50	0	0	0	1	0	23	50					A	161019032	G	A	161019032	2	1	450	1	0	0	0	0	0	0	0	1	879	1103	39	2		2	ARHGAP30	1	161019032	Silent	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08	66986065	161019032	88231589	3	30848											
REN	5972	broad.mit.edu	37	chr1	204128550	204128550	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagtagaaagagaagacGtcctcttttagcaccccttg	11	12	9	9	1	1	3	0	0	1	3	2	4	2	3	3	0	1	3	3	0	5	6			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr1:204128550G>A	ENST00000272190.8	-	5	694	c.666C>T	c.(664-666)gaC>gaT	p.D222D	REN_ENST00000367195.2_Silent_p.D222D	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	222					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	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)	AAGAGAAGACGTCCTCTTTTA	0.557																																						ENST00000367195.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19						c.(664-666)gaC>gaT		renin	Aliskiren(DB01258)|Remikiren(DB00212)						116	106	109					1																	204128550		2203	4300	6503	SO:0001819	synonymous_variant	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204128550G>A	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.666C>T	1.37:g.204128550G>A						REN_ENST00000272190.8_Silent_p.D222D	p.D222D			P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		5	709	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		222					Q6FI38|Q6T5C2	Silent	SNP	ENST00000272190.8	37	c.666C>T	CCDS30981.1																																																																																				0.557	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		18	30	0	0	0	1	0	18	30					A	204128550	G	A	204128550	2	1	450	1	0	0	0	0	0	0	0	1	13224	1136	40	1		1	REN	1	204128550	Silent	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08	43109518	204128550	45122071	4	30849											
CACNA1D	776	broad.mit.edu	37	chr3	53785827	53785827	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcccttgcggagatacatcCccaaaaacccctaccagtac	12	7	6	16	1	0	1	0	0	0	1	2	2	2	1	6	1	5	1	6	1	5	4			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr3:53785827C>G	ENST00000350061.5	+	28	4079	c.3568C>G	c.(3568-3570)Ccc>Gcc	p.P1190A	CACNA1D_ENST00000540742.1_Missense_Mutation_p.P97A|CACNA1D_ENST00000288139.4_Missense_Mutation_p.P1210A|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1190A	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1190					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGATACATCCCCAAAAACCC	0.502																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(3628-3630)Ccc>Gcc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						236	202	213					3																	53785827		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53785827C>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3568C>G	3.37:g.53785827C>G	ENSP00000288133:p.Pro1190Ala					CACNA1D_ENST00000540742.1_Missense_Mutation_p.P97A|CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1190A|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1190A	p.P1210A	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		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)	29	3746	+			1190					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3628C>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067819	0.93950	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.97906	-4.39;-4.44;-4.42;-4.4;-4.6	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.99257	0.9741	H	0.96080	3.765	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.983;1.0;0.996;0.987;1.0	D	0.98871	1.0766	10	0.87932	D	0	.	20.3214	0.98679	0.0:1.0:0.0:0.0	.	1190;97;883;1190;1210	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	A	1190;1210;1190;883;97	ENSP00000288133:P1190A;ENSP00000288139:P1210A;ENSP00000409174:P1190A;ENSP00000418014:P883A;ENSP00000438229:P97A	ENSP00000288139:P1210A	P	+	1	0	CACNA1D	53760867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.804000	0.96469	0.655000	0.94253	CCC		0.502	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		5	137	0	0	0	1	0	5	137					G	53785827	C	G	53785827	3	3	450	1	0	0	0	0	1	0	0	0	2541	623	22	5	3850	5	CACNA1D	3	53785827	Missense_Mutation	SNP	C	TCGA-YL-A8HL-01A-11D-A364-08		53785827	144236603	5	30850											
CDH18	1016	broad.mit.edu	37	chr5	19612698	19612698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtccatgttatgtaaggccGttctaataactcctgtaata	11	15	7	8	1	1	0	0	0	1	0	3	0	3	0	3	1	1	4	3	1	6	7			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr5:19612698G>A	ENST00000507958.1	-	8	1646	c.656C>T	c.(655-657)aCg>aTg	p.T219M	CDH18_ENST00000502796.1_Missense_Mutation_p.T219M|CDH18_ENST00000382275.1_Missense_Mutation_p.T219M|CDH18_ENST00000506372.1_Missense_Mutation_p.T219M|CDH18_ENST00000274170.4_Missense_Mutation_p.T219M|CDH18_ENST00000511273.1_Missense_Mutation_p.T219M			Q13634	CAD18_HUMAN	cadherin 18, type 2	219	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATGTAAGGCCGTTCTAATAAC	0.358																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(655-657)aCg>aTg		cadherin 18, type 2							124	119	120					5																	19612698		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19612698G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.656C>T	5.37:g.19612698G>A	ENSP00000425093:p.Thr219Met					CDH18_ENST00000382275.1_Missense_Mutation_p.T219M|CDH18_ENST00000502796.1_Missense_Mutation_p.T219M|CDH18_ENST00000511273.1_Missense_Mutation_p.T219M|CDH18_ENST00000506372.1_Missense_Mutation_p.T219M|CDH18_ENST00000274170.4_Missense_Mutation_p.T219M	p.T219M			Q13634	CAD18_HUMAN			8	1646	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		219			Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.656C>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649215	0.87958	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.95	5.95	0.96441	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.79094	0.4388	M	0.90542	3.125	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81767	-0.0782	9	.	.	.	.	18.9386	0.92597	0.0:0.0:1.0:0.0	.	219;219	B4DHG6;Q13634	.;CAD18_HUMAN	M	219;219;219;219;219;219;165;219	ENSP00000371710:T219M;ENSP00000425093:T219M;ENSP00000274170:T219M;ENSP00000424931:T219M;ENSP00000422138:T219M;ENSP00000427383:T165M;ENSP00000425854:T219M	.	T	-	2	0	CDH18	19648455	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.679000	0.98649	2.817000	0.96982	0.563000	0.77884	ACG		0.358	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		17	42	0	0	0	1	0	17	42					A	19612698	G	A	19612698	3	1	450	1	0	0	0	0	1	0	0	0	3103	1145	40	1	1748	1	CDH18	5	19612698	Missense_Mutation	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08		19612698	161302562	6	30851											
NOX3	50508	broad.mit.edu	37	chr6	155757616	155757616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctgccattctgcatagCggtctctacagaaggtgatg	8	12	11	10	1	3	2	0	1	3	1	4	2	3	2	1	2	4	1	1	2	3	3	rs527483156		TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr6:155757616C>T	ENST00000159060.2	-	7	836	c.734G>A	c.(733-735)cGc>cAc	p.R245H		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	245	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			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)		TTCTGCATAGCGGTCTCTACA	0.443																																						ENST00000159060.2																			0				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						c.(733-735)cGc>cAc		NADPH oxidase 3							139	115	123					6																	155757616		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155757616C>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.734G>A	6.37:g.155757616C>T	ENSP00000159060:p.Arg245His						p.R245H	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	7	836	-		Breast(66;0.0183)	245			Ferric oxidoreductase.		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.734G>A	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	C	0.063	-1.219960	0.01542	.	.	ENSG00000074771	ENST00000159060	D	0.95554	-3.74	5.56	-1.39	0.08997	.	0.450679	0.20645	N	0.088322	T	0.61677	0.2366	N	0.00436	-1.5	0.18873	N	0.999981	B	0.06786	0.001	B	0.01281	0.0	T	0.68519	-0.5387	10	0.14252	T	0.57	-3.5062	9.964	0.41712	0.0:0.356:0.0:0.644	.	245	Q9HBY0	NOX3_HUMAN	H	245	ENSP00000159060:R245H	ENSP00000159060:R245H	R	-	2	0	NOX3	155799308	0.055000	0.20627	0.006000	0.13384	0.211000	0.24417	-0.299000	0.08254	-0.411000	0.07530	-0.438000	0.05819	CGC		0.443	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			25	33	0	0	0	1	0	25	33					T	155757616	C	T	155757616	3	4	450	1	0	0	0	0	1	0	0	0	10557	768	27	1	1000	1	NOX3	6	155757616	Missense_Mutation	SNP	C	TCGA-YL-A8HL-01A-11D-A364-08		155757616	15357451	7	30852											
INSIG1	3638	broad.mit.edu	37	chr7	155094516	155094516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccttgtatatttttctcagGaggcgtcacggtggggaaca	8	12	12	9	2	2	0	2	0	1	0	3	2	2	2	1	5	1	1	1	5	3	5			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr7:155094516G>A	ENST00000340368.4	+	5	975	c.764G>A	c.(763-765)gGa>gAa	p.G255E	INSIG1_ENST00000344756.4_Missense_Mutation_p.G103E|INSIG1_ENST00000342407.5_Missense_Mutation_p.E158K	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	255					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTTTCTCAGGAGGCGTCACG	0.408																																						ENST00000340368.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19						c.(763-765)gGa>gAa		insulin induced gene 1							186	180	182					7																	155094516		2203	4300	6503	SO:0001583	missense	3638				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr7:155094516G>A		CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"INSIG-1 membrane protein"	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.764G>A	7.37:g.155094516G>A	ENSP00000344741:p.Gly255Glu					INSIG1_ENST00000344756.4_Missense_Mutation_p.G103E|INSIG1_ENST00000342407.5_Missense_Mutation_p.E158K	p.G255E	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	975	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	255					A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Missense_Mutation	SNP	ENST00000340368.4	37	c.764G>A	CCDS5938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.352321|5.352321	0.95830|0.95830	.|.	.|.	ENSG00000186480|ENSG00000186480	ENST00000342407|ENST00000340368;ENST00000344756	T|T;T	0.48201|0.59083	0.82|0.35;0.29	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.102264	.|0.64402	.|D	.|0.000002	T|T	0.79240|0.79240	0.4412|0.4412	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	P|D;D	0.46395|0.89917	0.877|1.0;1.0	B|D;D	0.43360|0.97110	0.417|0.996;1.0	T|T	0.82307|0.82307	-0.0522|-0.0522	9|10	0.87932|0.87932	D|D	0|0	.|.	19.0723|19.0723	0.93145|0.93145	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	158|103;255	A4D2N1|F5H6P3;O15503	.|.;INSI1_HUMAN	K|E	158|255;103	ENSP00000344035:E158K|ENSP00000344741:G255E;ENSP00000340010:G103E	ENSP00000344035:E158K|ENSP00000344741:G255E	E|G	+|+	1|2	0|0	INSIG1|INSIG1	154725451|154725451	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.983000|0.983000	0.72400|0.72400	9.451000|9.451000	0.97610|0.97610	2.579000|2.579000	0.87056|0.87056	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.408	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3	NM_198336		6	96	0	0	0	1	0	6	96					A	155094516	G	A	155094516	3	1	450	1	0	0	0	0	1	0	0	0	7765	1175	41	3	778	3	INSIG1	7	155094516	Missense_Mutation	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08		155094516	4044147	8	30853											
RGS3	5998	broad.mit.edu	37	chr9	116356449	116356449	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagcgtgtgtggctgcaGcctgcaccgttgctgcccgc	5	8	15	13	3	0	1	0	0	0	1	0	2	0	1	3	1	6	5	3	1	0	1			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr9:116356449G>T	ENST00000374140.2	+	23	3289				RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462403.1_Missense_Mutation_p.A84S|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000343817.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGTGGCTGCAGCCTGCACCGT	0.677																																						ENST00000462403.1																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(250-252)Gcc>Tcc		regulator of G-protein signaling 3							49	55	53					9																	116356449		2203	4298	6501	SO:0001627	intron_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116356449G>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-261G>T	9.37:g.116356449G>T						RGS3_ENST00000343817.5_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000394646.3_Intron	p.A84S	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN			1	684	+			0					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.250G>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629434	0.46944	.	.	ENSG00000138835	ENST00000462403	T	0.60548	0.18	5.02	3.02	0.34903	.	.	.	.	.	T	0.34513	0.0900	N	0.08118	0	0.19575	N	0.999962	B	0.10296	0.003	B	0.06405	0.002	T	0.18398	-1.0338	9	0.40728	T	0.16	.	7.57	0.27902	0.0:0.183:0.6276:0.1894	.	84	Q5VZ06	.	S	84	ENSP00000436168:A84S	ENSP00000436168:A84S	A	+	1	0	RGS3	115396270	0.004000	0.15560	0.009000	0.14445	0.526000	0.34562	0.747000	0.26290	1.078000	0.41014	0.558000	0.71614	GCC		0.677	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		19	41	1	0	1.50039e-11	1	1.7437e-11	19	41					T	116356449	G	T	116356449	1	4	450	0	1	0	0	0	0	0	0	0	13306	971	34	5		5	RGS3	9	116356449	Intron	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08		116356449	24856982	9	30854											
ZNF215	7762	broad.mit.edu	37	chr11	6977301	6977301	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaatgacttgagtttgagtAcagatattcgacaccaaaaa	16	10	9	6	1	0	4	0	3	0	1	1	6	0	5	1	1	1	2	1	1	5	5			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr11:6977301A>C	ENST00000278319.5	+	7	1681	c.1093A>C	c.(1093-1095)Aca>Cca	p.T365P	ZNF215_ENST00000414517.2_Missense_Mutation_p.T365P|ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	365					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GAGTTTGAGTACAGATATTCG	0.333																																						ENST00000278319.5																			0				NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32						c.(1093-1095)Aca>Cca		zinc finger protein 215							60	60	60					11																	6977301		2201	4296	6497	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977301A>C	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1093A>C	11.37:g.6977301A>C	ENSP00000278319:p.Thr365Pro					ZNF215_ENST00000414517.2_Missense_Mutation_p.T365P|ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000527171.1_3'UTR	p.T365P	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	1681	+			365					Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.1093A>C	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.192454	0.38707	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.15603	2.41;2.41	4.55	-2.82	0.05787	.	0.692910	0.12597	N	0.455087	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	P	0.45283	0.855	B	0.41571	0.36	T	0.24048	-1.0171	10	0.72032	D	0.01	.	3.1456	0.06471	0.3431:0.0:0.19:0.4669	.	365	Q9UL58	ZN215_HUMAN	P	365	ENSP00000278319:T365P;ENSP00000393202:T365P	ENSP00000278319:T365P	T	+	1	0	ZNF215	6933877	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.147000	0.10234	-0.241000	0.09681	0.533000	0.62120	ACA		0.333	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			22	34	0	0	0	1	0	22	34					C	6977301	A	C	6977301	3	2	450	1	0	0	0	0	1	0	0	0	17768	391	14	5	1111	5	ZNF215	11	6977301	Missense_Mutation	SNP	A	TCGA-YL-A8HL-01A-11D-A364-08		6977301	128029215	10	30855											
OR4P4	81300	broad.mit.edu	37	chr11	55406192	55406192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagggatggcctatgaccGctatgtggccatttgcaagc	9	9	12	11	1	0	1	0	1	0	0	0	2	0	2	3	3	2	2	3	3	3	3	rs143338269	byFrequency	TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr11:55406192G>A	ENST00000314612.2	+	1	359	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GCCTATGACCGCTATGTGGCC	0.403													g|||	5	0.000998403	0.0038	0	5008	,	,		15032	0		0	False		,,,				2504	0					ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(358-360)cGc>cAc		olfactory receptor, family 4, subfamily P, member 4		G	HIS/ARG	10,4348		1,8,2170	92	80	84		359	3.5	1	11	dbSNP_134	84	0,8032		0,0,4016	yes	missense	OR4P4	NM_001004124.1	29	1,8,6186	AA,AG,GG		0.0,0.2295,0.0807	benign	120/313	55406192	10,12380	2179	4016	6195	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406192G>A	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.359G>A	11.37:g.55406192G>A	ENSP00000324831:p.Arg120His						p.R120H	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	359	+			120						Missense_Mutation	SNP	ENST00000314612.2	37	c.359G>A	CCDS31504.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.25	1.582094	0.28180	0.002295	0.0	ENSG00000181927	ENST00000314612	T	0.77489	-1.1	5.37	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.175331	0.27927	N	0.017297	T	0.78117	0.4233	M	0.84773	2.715	0.34429	D	0.698286	B	0.22480	0.07	B	0.19148	0.024	T	0.79581	-0.1744	10	0.59425	D	0.04	-3.8644	10.5555	0.45114	0.1571:0.0:0.8429:0.0	.	120	Q8NGL7	OR4P4_HUMAN	H	120	ENSP00000324831:R120H	ENSP00000324831:R120H	R	+	2	0	OR4P4	55162768	0.865000	0.29922	0.965000	0.40720	0.063000	0.16089	4.768000	0.62293	0.645000	0.30675	-0.154000	0.13518	CGC		0.403	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		31	5	0	0	0	1	0	31	5					A	55406192	G	A	55406192	3	1	450	1	0	0	0	0	1	0	0	0	11080	1087	38	1	361	1	OR4P4	11	55406192	Missense_Mutation	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08	48428891	55406192	79600324	11	30856											
CEP57	9702	broad.mit.edu	37	chr11	95561040	95561040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctttgtgcaatgatcgaGtcatcaacagtattcctttg	11	14	8	8	1	2	1	2	1	0	0	4	2	3	1	1	0	3	3	1	0	4	4			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr11:95561040G>T	ENST00000325542.5	+	9	1214	c.976G>T	c.(976-978)Gtc>Ttc	p.V326F	CEP57_ENST00000541150.1_Missense_Mutation_p.V317F|CEP57_ENST00000537677.1_Missense_Mutation_p.V299F|CEP57_ENST00000325486.5_Missense_Mutation_p.V300F	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	326	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAATGATCGAGTCATCAACAG	0.443									Mosaic Variegated Aneuploidy Syndrome																													ENST00000325542.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(976-978)Gtc>Ttc		centrosomal protein 57kDa							170	158	162					11																	95561040		2201	4298	6499	SO:0001583	missense	9702	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	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	g.chr11:95561040G>T	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.976G>T	11.37:g.95561040G>T	ENSP00000317902:p.Val326Phe					CEP57_ENST00000325486.5_Missense_Mutation_p.V300F|CEP57_ENST00000537677.1_Missense_Mutation_p.V299F|CEP57_ENST00000541150.1_Missense_Mutation_p.V317F	p.V326F	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN			9	1214	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	326			Mediates interaction with microtubules (By similarity).		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	ENST00000325542.5	37	c.976G>T	CCDS8304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.39|17.39	3.376613|3.376613	0.61735|0.61735	.|.	.|.	ENSG00000166037|ENSG00000166037	ENST00000535224|ENST00000537677;ENST00000325542;ENST00000325486;ENST00000541150;ENST00000537093	.|T;T;T;T;T	.|0.52754	.|1.24;1.22;1.19;1.22;0.65	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.70605|0.70605	0.3243|0.3243	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.87578	.|0.998;0.977;0.996	T|T	0.71692|0.71692	-0.4516|-0.4516	5|10	.|0.87932	.|D	.|0	-6.7638|-6.7638	20.1699|20.1699	0.98157|0.98157	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|317;300;326	.|F5H5F7;Q86XR8-2;Q86XR8	.|.;.;CEP57_HUMAN	I|F	115|299;326;300;317;85	.|ENSP00000441392:V299F;ENSP00000317902:V326F;ENSP00000317487:V300F;ENSP00000443436:V317F;ENSP00000444749:V85F	.|ENSP00000317487:V300F	S|V	+|+	2|1	0|0	CEP57|CEP57	95200688|95200688	1.000000|1.000000	0.71417|0.71417	0.248000|0.248000	0.24265|0.24265	0.059000|0.059000	0.15707|0.15707	6.259000|6.259000	0.72494|0.72494	2.775000|2.775000	0.95449|0.95449	0.467000|0.467000	0.42956|0.42956	AGT|GTC		0.443	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		26	45	1	0	3.73988e-18	1	4.46708e-18	26	45					T	95561040	G	T	95561040	3	4	450	1	0	0	0	0	1	0	0	0	3256	1029	36	5	1010	5	CEP57	11	95561040	Missense_Mutation	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08	40154848	95561040	39445476	12	30857											
SLCO1B1	10599	broad.mit.edu	37	chr12	21377736	21377736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaacaactgtggcacaCgtgggtcatgtaggacatat	12	8	10	11	1	1	0	1	0	0	0	1	1	1	1	2	3	2	2	2	3	4	2			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr12:21377736C>T	ENST00000256958.2	+	14	1924	c.1828C>T	c.(1828-1830)Cgt>Tgt	p.R610C		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	610					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CTGTGGCACACGTGGGTCATG	0.338																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1828-1830)Cgt>Tgt		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						146	139	142					12																	21377736		2203	4300	6503	SO:0001583	missense	10599				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	g.chr12:21377736C>T		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1828C>T	12.37:g.21377736C>T	ENSP00000256958:p.Arg610Cys						p.R610C	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			14	1924	+			610					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1828C>T	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102188	0.37048	.	.	ENSG00000134538	ENST00000256958	T	0.43688	0.94	3.66	0.352	0.16051	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.504191	0.20573	N	0.089697	T	0.62636	0.2444	M	0.86805	2.84	0.18873	N	0.999989	D	0.76494	0.999	D	0.67900	0.954	T	0.55617	-0.8113	10	0.87932	D	0	.	10.0055	0.41955	0.5235:0.4765:0.0:0.0	.	610	Q9Y6L6	SO1B1_HUMAN	C	610	ENSP00000256958:R610C	ENSP00000256958:R610C	R	+	1	0	SLCO1B1	21269003	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	0.152000	0.16302	0.202000	0.20498	-0.518000	0.04402	CGT		0.338	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		16	97	0	0	0	1	0	16	97					T	21377736	C	T	21377736	3	4	450	1	0	0	0	0	1	0	0	0	14723	536	19	1	1878	1	SLCO1B1	12	21377736	Missense_Mutation	SNP	C	TCGA-YL-A8HL-01A-11D-A364-08		21377736	112474159	13	30858											
ITPR2	3709	broad.mit.edu	37	chr12	26780982	26780982	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctgatggtagtaaagtGtctggagatccactggcaga	12	10	12	7	0	1	3	0	1	1	2	2	4	2	3	2	3	1	3	2	3	4	3			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr12:26780982G>A	ENST00000381340.3	-	23	3464	c.3048C>T	c.(3046-3048)gaC>gaT	p.D1016D	RP11-666F17.1_ENST00000414098.2_RNA|ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1016					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		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)				Caffeine(DB00201)	GTAGTAAAGTGTCTGGAGATC	0.333																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				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						c.(3046-3048)gaC>gaT		inositol 1,4,5-trisphosphate receptor, type 2							239	229	232					12																	26780982		1854	4097	5951	SO:0001819	synonymous_variant	3709				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	g.chr12:26780982G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3048C>T	12.37:g.26780982G>A						RP11-666F17.1_ENST00000414098.2_RNA|ITPR2_ENST00000545902.1_5'UTR	p.D1016D	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			23	3464	-	Colorectal(261;0.0847)		1016					O94773	Silent	SNP	ENST00000381340.3	37	c.3048C>T	CCDS41764.1																																																																																				0.333	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		81	102	0	0	0	1	0	81	102					A	26780982	G	A	26780982	2	1	450	1	0	0	0	0	0	0	0	1	7921	1368	48	3		3	ITPR2	12	26780982	Silent	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08	5403246	26780982	107070913	14	30859											
ARMC5	79798	broad.mit.edu	37	chr16	31476480	31476480	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggatctgggctggtctGtgcttctttcctggctctgc	2	14	12	13	0	4	0	0	0	4	0	5	1	5	1	2	4	2	3	2	4	0	2			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr16:31476480G>T	ENST00000563544.1	+	5	2410				ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000457010.2_Silent_p.L712L|ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000268314.4_Intron			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5											central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGGCTGGTCTGTGCTTCTTTC	0.622																																						ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2134-2136)ctG>ctT		armadillo repeat containing 5							48	54	52					16																	31476480		2154	4270	6424	SO:0001627	intron_variant	79798						binding	g.chr16:31476480G>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1864+272G>T	16.37:g.31476480G>T						ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000563544.1_Intron|ARMC5_ENST00000538189.1_Intron	p.L712L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			4	2837	+			0					Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.2136G>T	CCDS45472.1																																																																																				0.622	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		8	7	1	0	0.000673444	1	0.000689478	8	7					T	31476480	G	T	31476480	1	4	450	0	1	0	0	0	0	0	0	0	954	1364	48	5		5	ARMC5	16	31476480	Intron	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08		31476480	58878273	15	30860											
SALL1	6299	broad.mit.edu	37	chr16	51175653	51175653	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggagctgccgccgccGccgctgctgctgctgctgct	2	8	16	15	4	0	0	0	0	0	0	0	2	0	2	4	2	7	7	4	2	0	0			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr16:51175653G>A	ENST00000251020.4	-	2	513	c.480C>T	c.(478-480)ggC>ggT	p.G160G	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.G63G|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	160	Poly-Gly.				adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			tgccgccgccgccgctgctgc	0.627																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				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						c.(187-189)ggC>ggT		spalt-like transcription factor 1							24	26	25					16																	51175653		2197	4299	6496	SO:0001819	synonymous_variant	6299				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	g.chr16:51175653G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.480C>T	16.37:g.51175653G>A						SALL1_ENST00000251020.4_Silent_p.G160G|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	p.G63G	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	620	-		all_cancers(37;0.0322)	160					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.189C>T	CCDS10747.1																																																																																				0.627	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		9	26	0	0	0	1	0	9	26					A	51175653	G	A	51175653	2	1	450	1	0	0	0	0	0	0	0	1	13810	1074	38	1		1	SALL1	16	51175653	Silent	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08	19699173	51175653	39179100	16	30861											
CNGB1	1258	broad.mit.edu	37	chr16	57921842	57921842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaggtgagcaagtttgcCgccttttgcccccttgccac	5	10	11	15	2	0	1	0	1	0	0	0	2	0	2	6	2	4	2	6	2	1	4	rs373477921		TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr16:57921842C>T	ENST00000251102.8	-	32	3439	c.3379G>A	c.(3379-3381)Ggc>Agc	p.G1127S	CNGB1_ENST00000564448.1_Missense_Mutation_p.G1121S	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1127					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCAAGTTTGCCGCCTTTTGCC	0.612																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(3361-3363)Ggc>Agc		cyclic nucleotide gated channel beta 1		C	SER/GLY	0,3894		0,0,1947	93	98	97		3379	5.3	1	16		97	1,8277		0,1,4138	no	missense	CNGB1	NM_001297.4	56	0,1,6085	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	1127/1252	57921842	1,12171	1947	4139	6086	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57921842C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3379G>A	16.37:g.57921842C>T	ENSP00000251102:p.Gly1127Ser					CNGB1_ENST00000251102.8_Missense_Mutation_p.G1127S	p.G1121S			Q14028	CNGB1_HUMAN			32	3421	-			1127					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.3361G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859370	0.51376	0.0	1.21E-4	ENSG00000070729	ENST00000251102	D	0.96830	-4.14	5.34	5.34	0.76211	.	0.169139	0.37053	N	0.002266	D	0.95297	0.8474	M	0.63428	1.95	0.80722	D	1	D;D	0.61697	0.99;0.983	P;P	0.50825	0.651;0.449	D	0.93224	0.6611	10	0.33940	T	0.23	.	7.1491	0.25599	0.1716:0.742:0.0:0.0864	.	499;1127	Q14028-2;Q14028	.;CNGB1_HUMAN	S	1127	ENSP00000251102:G1127S	ENSP00000251102:G1127S	G	-	1	0	CNGB1	56479343	0.967000	0.33354	1.000000	0.80357	0.132000	0.20833	2.271000	0.43364	2.503000	0.84419	0.467000	0.42956	GGC		0.612	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		29	50	0	0	0	1	0	29	50					T	57921842	C	T	57921842	3	4	450	1	0	0	0	0	1	0	0	0	3600	652	23	2	384	2	CNGB1	16	57921842	Missense_Mutation	SNP	C	TCGA-YL-A8HL-01A-11D-A364-08	6746189	57921842	32432911	17	30862											
ITGAE	3682	broad.mit.edu	37	chr17	3653658	3653658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctaccggaacacaaccGcctggcccagagtgcccacg	11	3	9	18	3	0	1	0	0	0	1	0	2	0	2	6	2	5	0	6	2	4	1	rs147766404		TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr17:3653658G>A	ENST00000263087.4	-	16	2110	c.2012C>T	c.(2011-2013)gCg>gTg	p.A671V		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	671					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAACACAACCGCCTGGCCCAG	0.592																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(2011-2013)gCg>gTg		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)		G	VAL/ALA	0,4406		0,0,2203	61	64	63		2012	4.3	0.8	17	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGAE	NM_002208.4	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	671/1180	3653658	1,13005	2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3653658G>A	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2012C>T	17.37:g.3653658G>A	ENSP00000263087:p.Ala671Val						p.A671V	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	16	2110	-			671					Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.2012C>T	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333922	0.01298	0.0	1.16E-4	ENSG00000083457	ENST00000263087	T	0.67171	-0.25	4.31	4.31	0.51392	.	.	.	.	.	T	0.46386	0.1390	L	0.42008	1.315	0.25566	N	0.986941	P	0.44429	0.835	B	0.32805	0.153	T	0.46707	-0.9172	9	0.02654	T	1	.	8.5685	0.33554	0.1089:0.0:0.8911:0.0	.	671	P38570	ITAE_HUMAN	V	671	ENSP00000263087:A671V	ENSP00000263087:A671V	A	-	2	0	ITGAE	3600407	0.942000	0.31987	0.765000	0.31456	0.035000	0.12851	2.696000	0.47052	2.136000	0.66102	0.485000	0.47835	GCG		0.592	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		10	7	0	0	0	1	0	10	7					A	3653658	G	A	3653658	3	1	450	1	0	0	0	0	1	0	0	0	7885	1087	38	1	1591	1	ITGAE	17	3653658	Missense_Mutation	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08		3653658	77541552	18	30863											
TP53	7157	broad.mit.edu	37	chr17	7577514	7577514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacctggagtcttccagtGtgatgatggtgaggatgggc	7	11	16	7	0	1	4	0	4	1	0	2	6	2	6	2	4	0	0	2	4	0	1			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr17:7577514G>A	ENST00000269305.4	-	7	956	c.767C>T	c.(766-768)aCa>aTa	p.T256I	TP53_ENST00000455263.2_Missense_Mutation_p.T256I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.T256I|TP53_ENST00000445888.2_Missense_Mutation_p.T256I|TP53_ENST00000420246.2_Missense_Mutation_p.T256I|TP53_ENST00000413465.2_Missense_Mutation_p.T256I	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	256	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		T -> I (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.T256I(2)|p.T256K(2)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.T256fs*90(1)|p.T256fs*89(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.I254_T256del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCTTCCAGTGTGATGATGGT	0.592		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		21	Whole gene deletion(8)|Substitution - Missense(4)|Deletion - In frame(3)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Unknown(1)	p.0?(8)|p.T256I(2)|p.T256K(2)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.T256fs*90(1)|p.T256fs*89(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.I254_T256del(1)	ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)|kidney(1)|skin(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	GRCh37	CM951232	TP53	M		c.(766-768)aCa>aTa	Other conserved DNA damage response genes	tumor protein p53							144	103	117					17																	7577514		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577514G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.767C>T	17.37:g.7577514G>A	ENSP00000269305:p.Thr256Ile	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)				TP53_ENST00000413465.2_Missense_Mutation_p.T256I|TP53_ENST00000445888.2_Missense_Mutation_p.T256I|TP53_ENST00000455263.2_Missense_Mutation_p.T256I|TP53_ENST00000359597.4_Missense_Mutation_p.T256I|TP53_ENST00000269305.4_Missense_Mutation_p.T256I	p.T256I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	899	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	256		T -> I (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.767C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135670	0.56828	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99846	-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050722	0.85682	D	0.000000	D	0.99768	0.9905	M	0.86028	2.79	0.58432	D	0.999992	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.998	D	0.97397	0.9993	10	0.87932	D	0	-15.8677	10.9866	0.47526	0.0922:0.0:0.9078:0.0	.	256;256;256;256;256	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	I	256;256;256;256;256;256;245;124	ENSP00000410739:T256I;ENSP00000352610:T256I;ENSP00000269305:T256I;ENSP00000398846:T256I;ENSP00000391127:T256I;ENSP00000391478:T256I;ENSP00000425104:T124I	ENSP00000269305:T256I	T	-	2	0	TP53	7518239	1.000000	0.71417	0.923000	0.36655	0.398000	0.30690	9.601000	0.98297	1.305000	0.44909	0.462000	0.41574	ACA		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	5	0	0	0	1	0	15	5					A	7577514	G	A	7577514	3	1	450	1	0	0	0	0	1	0	0	0	16378	1377	48	3	523	3	TP53	17	7577514	Missense_Mutation	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08	3923856	7577514	73617696	19	30864											
SCN4A	6329	broad.mit.edu	37	chr17	62049712	62049712	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccatcttgggcaggatatGcatggatgagcaccttgatg	9	11	12	9	0	1	2	0	2	1	0	2	4	2	4	2	3	2	3	2	3	1	3			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr17:62049712G>A	ENST00000435607.1	-	2	468	c.392C>T	c.(391-393)gCg>gTg	p.A131V	CTC-264K15.6_ENST00000577329.1_lincRNA|SCN4A_ENST00000578147.1_Splice_Site_p.A131V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	131					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCAGGATATGCATGGATGAG	0.617																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.e2+1		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						52	56	55					17																	62049712		2141	4250	6391	SO:0001630	splice_region_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62049712G>A	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.392+1C>T	17.37:g.62049712G>A						SCN4A_ENST00000435607.1_Splice_Site_p.A131_splice	p.A131_splice			P35499	SCN4A_HUMAN			2	468	-			131					Q15478|Q16447|Q7Z6B1	Splice_Site	SNP	ENST00000435607.1	37	c.392_splice	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663311	0.47572	.	.	ENSG00000007314	ENST00000435607	D	0.97404	-4.37	4.23	4.23	0.50019	.	4.299410	0.01381	U	0.012927	D	0.92538	0.7630	N	0.03608	-0.345	0.43043	D	0.994631	B	0.06786	0.001	B	0.12837	0.008	T	0.65183	-0.6230	9	.	.	.	.	15.7671	0.78135	0.0:0.0:1.0:0.0	.	131	P35499	SCN4A_HUMAN	V	131	ENSP00000396320:A131V	.	A	-	2	0	SCN4A	59403444	1.000000	0.71417	0.999000	0.59377	0.167000	0.22549	9.601000	0.98297	2.188000	0.69820	0.313000	0.20887	GCG		0.617	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	Missense_Mutation	10	8	0	0	0	1	0	10	8					A	62049712	G	A	62049712	5	1	450	1	0	0	0	0	0	0	1	0	13920	1333	46	3	5210	3	SCN4A	17	62049712	Splice_Site	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08	54472198	62049712	19145498	20	30865											
NOTUM	147111	broad.mit.edu	37	chr17	79910954	79910954	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggccacgttcatctcttgCcccgtgaactggtctcggac	5	11	11	14	3	3	1	1	1	2	0	5	2	3	2	3	3	2	1	3	3	1	2			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr17:79910954C>T	ENST00000409678.3	-	11	1757	c.1374G>A	c.(1372-1374)ggG>ggA	p.G458G		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	458						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			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)			TCATCTCTTGCCCCGTGAACT	0.667																																						ENST00000409678.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(1372-1374)ggG>ggA		notum pectinacetylesterase homolog (Drosophila)							69	56	60					17																	79910954		2203	4300	6503	SO:0001819	synonymous_variant	147111					extracellular region	hydrolase activity	g.chr17:79910954C>T	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.1374G>A	17.37:g.79910954C>T							p.G458G	NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		11	1757	-	all_neural(118;0.0878)|Ovarian(332;0.12)		458					Q8N410|Q8NI82	Silent	SNP	ENST00000409678.3	37	c.1374G>A	CCDS32771.2																																																																																				0.667	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2	NM_178493		3	57	0	0	0	1	0	3	57					T	79910954	C	T	79910954	2	4	450	1	0	0	0	0	0	0	0	1	10552	726	26	3		3	NOTUM	17	79910954	Silent	SNP	C	TCGA-YL-A8HL-01A-11D-A364-08	17861242	79910954	1284256	21	30866											
CDH20	28316	broad.mit.edu	37	chr18	59166542	59166542	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccattcagaggctcgacCgagaggaaagagcccagtat	13	5	12	11	3	1	3	1	0	0	3	2	6	1	4	3	2	1	2	3	2	2	2			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr18:59166542C>T	ENST00000262717.4	+	3	768	c.370C>T	c.(370-372)Cga>Tga	p.R124*	CDH20_ENST00000538374.1_Nonsense_Mutation_p.R124*|CDH20_ENST00000536675.2_Nonsense_Mutation_p.R124*			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	124	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAGGCTCGACCGAGAGGAAAG	0.537																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(370-372)Cga>Tga		cadherin 20, type 2							61	50	54					18																	59166542		2203	4300	6503	SO:0001587	stop_gained	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59166542C>T	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.370C>T	18.37:g.59166542C>T	ENSP00000262717:p.Arg124*					CDH20_ENST00000538374.1_Nonsense_Mutation_p.R124*|CDH20_ENST00000536675.2_Nonsense_Mutation_p.R124*	p.R124*			Q9HBT6	CAD20_HUMAN			3	768	+		Colorectal(73;0.186)	124			Cadherin 1.		Q495S3	Nonsense_Mutation	SNP	ENST00000262717.4	37	c.370C>T	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	40	8.038425	0.98621	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	.	.	.	5.82	2.95	0.34219	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0986	0.81148	0.542:0.458:0.0:0.0	.	.	.	.	X	124	.	ENSP00000262717:R124X	R	+	1	2	CDH20	57317522	1.000000	0.71417	0.751000	0.31187	0.928000	0.56348	2.353000	0.44089	0.323000	0.23307	0.650000	0.86243	CGA		0.537	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		12	13	0	0	0	1	0	12	13					T	59166542	C	T	59166542	4	4	450	1	0	0	0	0	0	1	0	0	3106	644	23	2	376	2	CDH20	18	59166542	Nonsense_Mutation	SNP	C	TCGA-YL-A8HL-01A-11D-A364-08		59166542	18910706	22	30867											
OR7D2	162998	broad.mit.edu	37	chr19	9296747	9296747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatctcctacatggactGcctcacacaggtctatttct	9	12	6	14	0	4	0	1	0	3	0	5	1	4	1	3	2	3	0	3	2	2	3			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr19:9296747G>A	ENST00000344248.2	+	1	469	c.290G>A	c.(289-291)tGc>tAc	p.C97Y		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	97					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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						TACATGGACTGCCTCACACAG	0.517																																						ENST00000344248.2																			0				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						c.(289-291)tGc>tAc		olfactory receptor, family 7, subfamily D, member 2							179	167	171					19																	9296747		2203	4300	6503	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9296747G>A	AK095468	CCDS32900.1	19p13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.290G>A	19.37:g.9296747G>A	ENSP00000345563:p.Cys97Tyr						p.C97Y	NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN			1	469	+			97					Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.290G>A	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079205	0.36662	.	.	ENSG00000188000	ENST00000344248	T	0.17054	2.3	2.21	2.21	0.28008	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	U	0.000523	T	0.57888	0.2084	H	0.99347	4.525	0.44789	D	0.997796	D	0.89917	1.0	D	0.91635	0.999	T	0.75263	-0.3379	10	0.87932	D	0	.	11.9872	0.53155	0.0:0.0:1.0:0.0	.	97	Q96RA2	OR7D2_HUMAN	Y	97	ENSP00000345563:C97Y	ENSP00000345563:C97Y	C	+	2	0	OR7D2	9157747	1.000000	0.71417	0.873000	0.34254	0.026000	0.11368	8.089000	0.89525	1.583000	0.49898	0.511000	0.50034	TGC		0.517	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			6	90	0	0	0	1	0	6	90					A	9296747	G	A	9296747	3	1	450	1	0	0	0	0	1	0	0	0	11219	1319	46	3	292	3	OR7D2	19	9296747	Missense_Mutation	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08		9296747	49832236	23	30868											
FLRT3	23767	broad.mit.edu	37	chr20	14307317	14307317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aattacttaggttattattgGacatatccagtcgatagagc	13	14	8	6	1	0	1	0	0	0	1	2	3	1	2	1	2	2	1	1	2	7	7			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr20:14307317G>T	ENST00000378053.3	-	2	1092	c.836C>A	c.(835-837)tCc>tAc	p.S279Y	FLRT3_ENST00000341420.4_Missense_Mutation_p.S279Y|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	279					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GTTATTATTGGACATATCCAG	0.413																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(835-837)tCc>tAc		fibronectin leucine rich transmembrane protein 3							50	52	51					20																	14307317		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307317G>T	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"Fibronectin type III domain containing"	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.836C>A	20.37:g.14307317G>T	ENSP00000367292:p.Ser279Tyr					MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S279Y	p.S279Y	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	1092	-		Colorectal(1;0.0464)	279					D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.836C>A	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345922	0.61073	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.63744	-0.06;-0.06	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.82861	0.5129	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83879	0.0278	10	0.72032	D	0.01	-8.6217	20.5211	0.99222	0.0:0.0:1.0:0.0	.	279	Q9NZU0	FLRT3_HUMAN	Y	279	ENSP00000367292:S279Y;ENSP00000339912:S279Y	ENSP00000339912:S279Y	S	-	2	0	FLRT3	14255317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	TCC		0.413	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		24	34	1	0	9.90768e-06	1	1.06508e-05	24	34					T	14307317	G	T	14307317	3	4	450	1	0	0	0	0	1	0	0	0	5940	1174	41	5	1117	5	FLRT3	20	14307317	Missense_Mutation	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08		14307317	48718203	24	30869											
B4GALT5	9334	broad.mit.edu	37	chr20	48252911	48252911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttatgtttttatacaaggCgtcgtatgtgatgtttgcaa	10	17	10	4	2	0	1	0	1	0	0	1	1	0	1	0	1	2	5	0	1	6	7			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr20:48252911C>A	ENST00000371711.4	-	9	1292	c.1105G>T	c.(1105-1107)Gcc>Tcc	p.A369S		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	369					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TTATACAAGGCGTCGTATGTG	0.493																																						ENST00000371711.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1105-1107)Gcc>Tcc		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5							254	217	230					20																	48252911		2203	4300	6503	SO:0001583	missense	9334				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding	g.chr20:48252911C>A	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"Beta 4-glycosyltransferases"	928	protein-coding gene	gene with protein product	"beta4-GalT IV"	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.1105G>T	20.37:g.48252911C>A	ENSP00000360776:p.Ala369Ser						p.A369S	NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		9	1292	-			369					E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	c.1105G>T	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719652	0.48728	.	.	ENSG00000158470	ENST00000371711	T	0.34072	1.38	5.52	5.52	0.82312	.	0.144296	0.64402	D	0.000004	T	0.15089	0.0364	N	0.01235	-0.94	0.35169	D	0.771407	B	0.14805	0.011	B	0.09377	0.004	T	0.14476	-1.0471	10	0.48119	T	0.1	-26.11	12.7538	0.57323	0.0:0.9251:0.0:0.0749	.	369	O43286	B4GT5_HUMAN	S	369	ENSP00000360776:A369S	ENSP00000360776:A369S	A	-	1	0	B4GALT5	47686318	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.780000	0.38634	2.586000	0.87340	0.563000	0.77884	GCC		0.493	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		12	41	1	0	3.07112e-06	1	3.3861e-06	12	41					A	48252911	C	A	48252911	3	1	450	1	0	0	0	0	1	0	0	0	1274	768	27	5	65	5	B4GALT5	20	48252911	Missense_Mutation	SNP	C	TCGA-YL-A8HL-01A-11D-A364-08	33945594	48252911	14772609	25	30870											
GPRASP2	114928	broad.mit.edu	37	chrX	101971615	101971615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattccttttattaatggaCaaaattcgggatccttttat	12	17	6	6	1	0	0	0	0	0	0	3	3	2	2	2	2	0	0	2	2	6	7			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chrX:101971615C>A	ENST00000535209.1	+	4	2649	c.1818C>A	c.(1816-1818)gaC>gaA	p.D606E	GPRASP2_ENST00000332262.5_Missense_Mutation_p.D606E|GPRASP2_ENST00000543253.1_Missense_Mutation_p.D606E			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	606						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TATTAATGGACAAAATTCGGG	0.393																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1816-1818)gaC>gaA		G protein-coupled receptor associated sorting protein 2							68	66	67					X																	101971615		2203	4300	6503	SO:0001583	missense	114928							g.chrX:101971615C>A	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1818C>A	X.37:g.101971615C>A	ENSP00000437394:p.Asp606Glu					GPRASP2_ENST00000535209.1_Missense_Mutation_p.D606E|GPRASP2_ENST00000332262.5_Missense_Mutation_p.D606E	p.D606E	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	2737	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.1818C>A	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.979756	0.00448	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.25912	1.77;1.77;1.77	4.33	-3.51	0.04696	.	0.410761	0.20845	N	0.084625	T	0.08582	0.0213	N	0.17379	0.485	0.09310	N	1	B	0.25048	0.117	B	0.28011	0.085	T	0.32719	-0.9896	10	0.06625	T	0.88	.	0.5301	0.00627	0.3924:0.2157:0.1273:0.2647	.	606	Q96D09	GASP2_HUMAN	E	606	ENSP00000437872:D606E;ENSP00000437394:D606E;ENSP00000339057:D606E	ENSP00000339057:D606E	D	+	3	2	GPRASP2	101858271	0.345000	0.24835	0.006000	0.13384	0.015000	0.08874	-0.509000	0.06336	-1.053000	0.03218	-1.028000	0.02416	GAC		0.393	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		19	5	1	0	5.35267e-07	1	6.05696e-07	19	5					A	101971615	C	A	101971615	3	1	450	1	0	0	0	0	1	0	0	0	6723	477	17	5	1820	5	GPRASP2	23	101971615	Missense_Mutation	SNP	C	TCGA-YL-A8HL-01A-11D-A364-08		101971615	53298945	26	30871											
INPP5B	3633	broad.mit.edu	37	chr1	38328017	38328017	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcagaggaactggtgaatAaattcttgagccttcttctt	10	15	9	7	0	3	3	0	2	3	1	3	4	3	4	1	2	3	1	1	2	4	7			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr1:38328017A>C	ENST00000373026.1	-	23	2952	c.2952T>G	c.(2950-2952)ttT>ttG	p.F984L	INPP5B_ENST00000373027.1_Missense_Mutation_p.F740L|MTF1_ENST00000373036.4_5'Flank|INPP5B_ENST00000373024.3_Missense_Mutation_p.F904L|INPP5B_ENST00000373023.2_Missense_Mutation_p.F984L|RP11-109P14.10_ENST00000419993.1_RNA			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	984	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACTGGTGAATAAATTCTTGAG	0.458																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(2950-2952)ttT>ttG		inositol polyphosphate-5-phosphatase, 75kDa							119	116	117					1																	38328017		1863	4096	5959	SO:0001583	missense	3633				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	g.chr1:38328017A>C	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.2952T>G	1.37:g.38328017A>C	ENSP00000362117:p.Phe984Leu					INPP5B_ENST00000373027.1_Missense_Mutation_p.F740L|INPP5B_ENST00000373024.3_Missense_Mutation_p.F904L|INPP5B_ENST00000373026.1_Missense_Mutation_p.F984L	p.F984L	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN			24	3045	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	984			Rho-GAP.		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.2952T>G		.	.	.	.	.	.	.	.	.	.	A	22.8	4.333264	0.81801	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373026;ENST00000373024	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.63	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	L	0.56199	1.76	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.56056	-0.8042	10	0.59425	D	0.04	.	8.9778	0.35946	0.846:0.0:0.154:0.0	.	904	P32019-2	.	L	740;984;984;904	ENSP00000362118:F740L;ENSP00000362114:F984L;ENSP00000362117:F984L;ENSP00000362115:F904L	ENSP00000362114:F984L	F	-	3	2	INPP5B	38100604	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.189000	0.42621	2.265000	0.75225	0.533000	0.62120	TTT		0.458	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		13	38	0	0	0	1	0	13	38					C	38328017	A	C	38328017	3	2	451	1	0	0	0	0	1	0	0	0	7755	359	13	5	33	5	INPP5B	1	38328017	Missense_Mutation	SNP	A	TCGA-YL-A8HM-01A-11D-A364-08		38328017	210922604	1	30872											
TNNI3K	100526835	broad.mit.edu	37	chr1	74905291	74905291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcactggcgaaattccattcGctcatctcaagccaggtaag	11	10	8	12	2	3	0	3	0	1	0	6	1	4	0	2	2	1	2	2	2	3	3	rs148931950	byFrequency	TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr1:74905291G>A	ENST00000370899.3	+	22	2336	c.2299G>A	c.(2299-2301)Gct>Act	p.A767T	TNNI3K_ENST00000370891.2_Missense_Mutation_p.A767T|TNNI3K_ENST00000326637.3_Missense_Mutation_p.A666T|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.A780T	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		AATTCCATTCGCTCATCTCAA	0.408													G|||	11	0.00219649	0.0068	0.0029	5008	,	,		19481	0		0	False		,,,				2504	0					ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2299-2301)Gct>Act		TNNI3 interacting kinase		G	THR/ALA,THR/ALA,THR/ALA	30,4376	36.0+/-67.5	0,30,2173	126	109	115		2299,2299,1996	4.9	1	1	dbSNP_134	115	0,8600		0,0,4300	yes	missense,missense,missense	TNNI3K,FPGT-TNNI3K	NM_001112808.2,NM_001199327.1,NM_015978.2	58,58,58	0,30,6473	AA,AG,GG		0.0,0.6809,0.2307	probably-damaging,probably-damaging,probably-damaging	767/937,767/844,666/836	74905291	30,12976	2203	4300	6503	SO:0001583	missense	51086							g.chr1:74905291G>A			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2299G>A	1.37:g.74905291G>A	ENSP00000359936:p.Ala767Thr					FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.A767T|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.A767T|TNNI3K_ENST00000326637.3_Missense_Mutation_p.A666T	p.A767T	NM_001112808.2	NP_001106279.1					22	2315	+									Missense_Mutation	SNP	ENST00000370899.3	37	c.2299G>A		6	0.0027472527472527475	4	0.008130081300813009	2	0.0055248618784530384	0	0.0	0	0.0	G	27.6	4.846938	0.91277	0.006809	0.0	ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000557284;ENST00000370891;ENST00000326637	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.87	4.94	0.65067	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053866	0.64402	D	0.000001	T	0.81079	0.4748	L	0.33339	1.005	0.58432	D	0.999996	D;D;D	0.71674	0.998;0.997;0.997	P;P;P	0.60541	0.876;0.848;0.803	T	0.83220	-0.0069	10	0.49607	T	0.09	.	16.2433	0.82426	0.0:0.0:0.8662:0.1338	.	666;767;767	Q59H18;Q59H18-1;Q59H18-4	TNI3K_HUMAN;.;.	T	767;767;767;666	ENSP00000359936:A767T;ENSP00000450895:A767T;ENSP00000359928:A767T;ENSP00000322251:A666T	ENSP00000322251:A666T	A	+	1	0	RP11-653A5.2;AC093158.1	74677879	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.226000	0.65299	1.442000	0.47568	0.484000	0.47621	GCT		0.408	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			28	53	0	0	0	1	0	28	53					A	74905291	G	A	74905291	3	1	451	1	0	0	0	0	1	0	0	0	16326	1087	38	1	2429	1	TNNI3K	1	74905291	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	36577274	74905291	174345330	2	30873											
APOA1BP	128240	broad.mit.edu	37	chr1	156563208	156563208	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctccaccacagcccatgacGattgatgaactgtatgagct	11	9	9	12	1	0	4	0	4	0	0	1	5	1	4	3	0	3	3	3	0	2	2	rs182257927	byFrequency	TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr1:156563208G>A	ENST00000368235.3	+	5	568	c.525G>A	c.(523-525)acG>acA	p.T175T	GPATCH4_ENST00000497287.1_5'Flank|APOA1BP_ENST00000368234.3_Intron|APOA1BP_ENST00000368233.3_Silent_p.T175T	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCCCATGACGATTGATGAAC	0.542													G|||	3	0.000599042	0.0023	0	5008	,	,		22105	0		0	False		,,,				2504	0					ENST00000368235.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9						c.(523-525)acG>acA		apolipoprotein A-I binding protein							125	103	110					1																	156563208		2203	4300	6503	SO:0001819	synonymous_variant	128240					extracellular region	protein binding	g.chr1:156563208G>A	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"apoA-I binding protein"	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.525G>A	1.37:g.156563208G>A						APOA1BP_ENST00000368233.3_Silent_p.T175T|APOA1BP_ENST00000368234.3_Intron	p.T175T	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN			5	568	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		175			YjeF N-terminal.			Silent	SNP	ENST00000368235.3	37	c.525G>A	CCDS1145.1																																																																																				0.542	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1	NM_144772		7	59	0	0	0	1	0	7	59					A	156563208	G	A	156563208	2	1	451	1	0	0	0	0	0	0	0	1	781	1045	37	2		2	APOA1BP	1	156563208	Silent	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	81657917	156563208	92687413	3	30874											
CFH	3075	broad.mit.edu	37	chr1	196658724	196658724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcacacaagatggatggtCgccagcagtaccatgcctca	11	8	10	12	1	1	1	1	0	0	1	2	2	1	2	3	2	4	3	3	2	2	2	rs533322868		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr1:196658724C>T	ENST00000359637.2	+	7	1009	c.947C>T	c.(946-948)tCg>tTg	p.S316L	CFH_ENST00000367429.4_Missense_Mutation_p.S380L|CFH_ENST00000439155.2_Missense_Mutation_p.S380L			P08603	CFAH_HUMAN	complement factor H	380	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GATGGATGGTCGCCAGCAGTA	0.393													C|||	1	0.000199681	0	0	5008	,	,		13905	0		0	False		,,,				2504	0.001					ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1138-1140)tCg>tTg		complement factor H							110	108	109					1																	196658724		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196658724C>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.947C>T	1.37:g.196658724C>T	ENSP00000352658:p.Ser316Leu					CFH_ENST00000359637.2_Missense_Mutation_p.S316L|CFH_ENST00000439155.2_Missense_Mutation_p.S380L	p.S380L	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			8	1379	+			380			Sushi 6.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.1139C>T		.	.	.	.	.	.	.	.	.	.	C	15.49	2.848074	0.51164	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.69175	-0.38;-0.38;-0.38	5.61	-3.72	0.04411	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.76321	0.3971	M	0.82193	2.58	0.09310	N	1	D;D;B;P	0.71674	0.998;0.963;0.281;0.836	D;P;B;B	0.83275	0.996;0.589;0.09;0.403	T	0.64884	-0.6302	9	0.42905	T	0.14	.	4.2915	0.10881	0.4031:0.2921:0.0:0.3048	.	316;380;380;380	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	L	380;380;380;316	ENSP00000356399:S380L;ENSP00000402656:S380L;ENSP00000352658:S316L	ENSP00000352658:S316L	S	+	2	0	CFH	194925347	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.913000	0.04042	-0.481000	0.06792	0.655000	0.94253	TCG		0.393	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		55	9	0	0	0	1	0	55	9					T	196658724	C	T	196658724	3	4	451	1	0	0	0	0	1	0	0	0	3283	893	31	2	1169	2	CFH	1	196658724	Missense_Mutation	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08	40095516	196658724	52591897	4	30875											
FAM110C	642273	broad.mit.edu	37	chr2	45551	45551	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaagtggtgctgggcacctGctctatcagctcctcctcct	5	11	10	15	1	2	0	1	0	1	0	5	1	5	0	4	2	3	4	4	2	2	1	rs201168179		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:45551G>A	ENST00000327669.4	-	1	834	c.835C>T	c.(835-837)Cag>Tag	p.Q279*	FAM110C_ENST00000460464.1_5'Flank	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	279					positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491)	cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CTGGGCACCTGCTCTATCAGC	0.657													G|||	1	0.000199681	0	0.0014	5008	,	,		13578	0		0	False		,,,				2504	0					ENST00000327669.4																			0				central_nervous_system(1)|kidney(1)|lung(2)	4						c.(835-837)Cag>Tag		family with sequence similarity 110, member C							44	52	49					2																	45551		2099	4221	6320	SO:0001587	stop_gained	642273					microtubule|microtubule organizing center|spindle pole		g.chr2:45551G>A	DQ431183	CCDS42645.1	2p25.3	2011-12-01			ENSG00000184731	ENSG00000184731			33340	protein-coding gene	gene with protein product		611395				17499476, 19698782	Standard	NM_001077710		Approved		uc010yim.2	Q1W6H9	OTTHUMG00000151321	ENST00000327669.4:c.835C>T	2.37:g.45551G>A	ENSP00000328347:p.Gln279*						p.Q279*	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)	1	834	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)	279						Nonsense_Mutation	SNP	ENST00000327669.4	37	c.835C>T	CCDS42645.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	37	6.480479	0.97603	.	.	ENSG00000184731	ENST00000327669	.	.	.	4.64	4.64	0.57946	.	0.059413	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-8.1297	15.3421	0.74306	0.0:0.0:1.0:0.0	.	.	.	.	X	279	.	ENSP00000328347:Q279X	Q	-	1	0	FAM110C	35551	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.982000	0.63825	2.277000	0.76020	0.561000	0.74099	CAG		0.657	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322220.1	NM_001077710		12	24	0	0	0	1	0	12	24					A	45551	G	A	45551	4	1	451	1	0	0	0	0	0	1	0	0	5398	1328	46	3	138	3	FAM110C	2	45551	Nonsense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08		45551	243153822	5	30876											
CAD	790	broad.mit.edu	37	chr2	27449052	27449052	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccacactggtgagtccatAgtggtggcccctagccagac	9	8	11	13	0	0	2	0	1	0	1	2	2	2	2	5	3	1	0	5	3	2	2			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:27449052A>G	ENST00000264705.4	+	13	2058	c.1896A>G	c.(1894-1896)atA>atG	p.I632M	CAD_ENST00000403525.1_Intron	NM_004341.3	NP_004332.2	O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			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)					GTGAGTCCATAGTGGTGGCCC	0.567																																						ENST00000264705.4																			0				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						c.(1894-1896)atA>atG		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						88	86	87					2																	27449052		2203	4300	6503	SO:0001583	missense	790				'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	g.chr2:27449052A>G	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000264705.4:c.1896A>G	2.37:g.27449052A>G	ENSP00000264705:p.Ile632Met					CAD_ENST00000403525.1_Intron	p.I632M	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			13	2058	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		632			ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000264705.4	37	c.1896A>G	CCDS1742.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.163743	0.78226	.	.	ENSG00000084774	ENST00000264705	D	0.98028	-4.67	5.51	-6.47	0.01902	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);	0.045906	0.85682	D	0.000000	D	0.97993	0.9339	M	0.88377	2.95	0.80722	D	1	P	0.49783	0.928	P	0.55824	0.785	D	0.97047	0.9761	10	0.87932	D	0	0.652	16.3145	0.82913	0.1574:0.7483:0.0:0.0943	.	632	P27708	PYR1_HUMAN	M	632	ENSP00000264705:I632M	ENSP00000264705:I632M	I	+	3	3	CAD	27302556	0.000000	0.05858	0.960000	0.40013	0.989000	0.77384	-1.887000	0.01617	-0.957000	0.03627	0.454000	0.30748	ATA		0.567	CAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214186.2			18	29	0	0	0	1	0	18	29					G	27449052	A	G	27449052	3	3	451	1	0	0	0	0	1	0	0	0	2565	410	15	4	1946	4	CAD	2	27449052	Missense_Mutation	SNP	A	TCGA-YL-A8HM-01A-11D-A364-08	27403501	27449052	215750321	6	30877											
PPM1B	5495	broad.mit.edu	37	chr2	44445160	44445160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatcttgcccatgtcatgcGcatcttgtctgcagaaaata	10	13	8	10	1	4	2	1	1	3	1	4	2	4	2	1	0	3	2	1	0	3	3			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:44445160G>A	ENST00000282412.4	+	4	1431	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	PPM1B_ENST00000345249.4_Missense_Mutation_p.R53H|PPM1B_ENST00000409432.3_Missense_Mutation_p.R340H|PPM1B_ENST00000378551.2_Missense_Mutation_p.R340H|PPM1B_ENST00000378540.4_3'UTR	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	340					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATGTCATGCGCATCTTGTCT	0.403																																						ENST00000378551.2																			0				kidney(4)|large_intestine(3)|lung(7)|skin(2)	16						c.(1018-1020)cGc>cAc		protein phosphatase, Mg2+/Mn2+ dependent, 1B							84	88	87					2																	44445160		2203	4300	6503	SO:0001583	missense	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44445160G>A	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9276	protein-coding gene	gene with protein product	"protein phosphatase 2C, beta isoform"	603770	"protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.1019G>A	2.37:g.44445160G>A	ENSP00000282412:p.Arg340His					PPM1B_ENST00000409432.3_Missense_Mutation_p.R340H|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Missense_Mutation_p.R53H|PPM1B_ENST00000282412.4_Missense_Mutation_p.R340H	p.R340H	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN			4	1431	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	340					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	c.1019G>A	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127907	0.77549	.	.	ENSG00000138032	ENST00000419807;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000345249;ENST00000409473	T;T;T;T;T	0.33216	1.87;1.87;1.77;1.87;1.42	5.6	5.6	0.85130	Protein serine/threonine phosphatase 2C, C-terminal (3);	0.047272	0.85682	D	0.000000	T	0.29684	0.0741	L	0.37750	1.13	0.80722	D	1	B;B;B;B	0.15719	0.005;0.002;0.003;0.014	B;B;B;B	0.08055	0.003;0.001;0.002;0.003	T	0.02639	-1.1130	10	0.42905	T	0.14	-11.6188	19.9737	0.97296	0.0:0.0:1.0:0.0	.	340;340;340;340	Q4J6C0;O75688-2;Q4J6C1;O75688	.;.;.;PPM1B_HUMAN	H	340;340;340;340;53;265	ENSP00000390087:R340H;ENSP00000387287:R340H;ENSP00000282412:R340H;ENSP00000367813:R340H;ENSP00000386982:R265H	ENSP00000282412:R340H	R	+	2	0	PPM1B	44298664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.793000	0.96121	0.591000	0.81541	CGC		0.403	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		3	53	0	0	0	1	0	3	53					A	44445160	G	A	44445160	3	1	451	1	0	0	0	0	1	0	0	0	12336	1087	38	1	1049	1	PPM1B	2	44445160	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	16996108	44445160	198754213	7	30878											
PSME4	23198	broad.mit.edu	37	chr2	54093344	54093345	+	Frame_Shift_Ins	INS	-	-	T																															ccttcggaaattggataaggINSttttttttacagtcatctgt																										TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:54093344_54093345insT	ENST00000404125.1	-	46	5468_5469	c.5413_5414insA	c.(5413-5415)accfs	p.T1805fs	PSME4_ENST00000421748.2_Frame_Shift_Ins_p.T949fs|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1805					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.T1691fs*>39(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)			ATTGGATAAGGTTTTTTTTACA	0.401																																						ENST00000404125.1																			1	Deletion - Frameshift(1)	p.T1691fs*>39(1)	ovary(1)	breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(5413-5415)cttfs		proteasome (prosome, macropain) activator subunit 4																																				SO:0001589	frameshift_variant	23198				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	g.chr2:54093344_54093345insT	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5414dupA	2.37:g.54093352_54093352dupT	ENSP00000384211:p.Thr1805fs					PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Frame_Shift_Ins_p.L949fs	p.L1805fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		46	5468_5469	-			1805					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Frame_Shift_Ins	INS	ENST00000404125.1	37	c.5413_5414insA	CCDS33197.2																																																																																				0.401	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		7	137						7	137	---	---	---	---	T	54093345	-	T	54093344	7	5	451	1	0	1	1	0	0	0	0	0	12709	1261	44	0	121	0	PSME4	2	54093344	Frame_Shift_Ins	INS	-	TCGA-YL-A8HM-01A-11D-A364-08	9648184	54093344	189106029	8	30879											
CD8B	926	broad.mit.edu	37	chr2	87085245	87085245	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgatcatgcagaagtagAtgccactgtcttccggcttc	9	10	10	12	3	2	2	1	0	1	2	4	4	3	2	2	1	2	3	2	1	2	3			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:87085245A>C	ENST00000390655.6	-	2	396	c.338T>G	c.(337-339)aTc>aGc	p.I113S	CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393759.2_Missense_Mutation_p.I113S|CD8B_ENST00000393761.2_Missense_Mutation_p.I113S|CD8B_ENST00000331469.2_Missense_Mutation_p.I113S|CD8B_ENST00000349455.3_Missense_Mutation_p.I113S	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	113	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GCAGAAGTAGATGCCACTGTC	0.542																																						ENST00000390655.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						c.(337-339)aTc>aGc		CD8b molecule							120	112	114					2																	87085245		2203	4300	6503	SO:0001583	missense	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87085245A>C		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1707	protein-coding gene	gene with protein product		186730	"CD8 antigen, beta polypeptide 1 (p37)"	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.338T>G	2.37:g.87085245A>C	ENSP00000375070:p.Ile113Ser					CD8B_ENST00000349455.3_Missense_Mutation_p.I113S|CD8B_ENST00000393761.2_Missense_Mutation_p.I113S|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Missense_Mutation_p.I113S|CD8B_ENST00000393759.2_Missense_Mutation_p.I113S	p.I113S	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN			2	396	-			113			Ig-like V-type.		P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	ENST00000390655.6	37	c.338T>G	CCDS1997.1	.	.	.	.	.	.	.	.	.	.	A	6.100	0.386806	0.11524	.	.	ENSG00000172116	ENST00000393761;ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	4.55	3.38	0.38709	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.869934	0.10257	N	0.696449	T	0.54870	0.1885	L	0.38175	1.15	0.80722	D	1	B;B;B;B;B;B	0.32573	0.376;0.245;0.245;0.228;0.274;0.307	B;B;B;B;B;B	0.31101	0.124;0.124;0.124;0.058;0.079;0.076	T	0.50466	-0.8825	10	0.87932	D	0	-3.495	7.062	0.25131	0.8942:0.0:0.1058:0.0	.	113;113;113;113;113;113	Q496E2;Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;.;CD8B_HUMAN;.;.;.	S	113	ENSP00000377358:I113S;ENSP00000377356:I113S;ENSP00000340592:I113S;ENSP00000331172:I113S;ENSP00000375070:I113S	ENSP00000331172:I113S	I	-	2	0	CD8B	86938756	0.004000	0.15560	0.647000	0.29507	0.050000	0.14768	-0.333000	0.07894	0.613000	0.30089	-0.388000	0.06559	ATC		0.542	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		40	33	0	0	0	1	0	40	33					C	87085245	A	C	87085245	3	2	451	1	0	0	0	0	1	0	0	0	3045	333	12	5	588	5	CD8B	2	87085245	Missense_Mutation	SNP	A	TCGA-YL-A8HM-01A-11D-A364-08	32991901	87085245	156114128	9	30880											
IL1F5	26525	broad.mit.edu	37	chr2	113819703	113819703	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggcctctttcccacaggtGaagagatcagcgtggtcccc	7	9	11	14	1	2	2	1	1	1	1	4	3	4	2	4	3	1	0	4	3	1	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:113819703G>C	ENST00000393200.2	+	4	279	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	IL36RN_ENST00000346807.3_Missense_Mutation_p.E40Q	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	40					antifungal humoral response (GO:0019732)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of interferon-gamma secretion (GO:1902714)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)	extracellular space (GO:0005615)	interleukin-1 receptor antagonist activity (GO:0005152)			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCCCACAGGTGAAGAGATCAG	0.632																																						ENST00000393200.2																			0				large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(118-120)Gaa>Caa		interleukin 36 receptor antagonist							42	41	42					2																	113819703		2203	4300	6503	SO:0001583	missense	26525					extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113819703G>C	AF201830	CCDS2111.1	2q14	2014-09-17	2011-06-06	2011-06-06	ENSG00000136695	ENSG00000136695		"Interleukins and interleukin receptors"	15561	protein-coding gene	gene with protein product	"family of interleukin 1-delta", "interleukin-1 receptor antagonist homolog 1", "interleukin-1 HY1", "IL-1 related protein 3"	605507	"interleukin 1 family, member 5 (delta)"	IL1F5		10625660, 10512743, 11574262	Standard	NM_012275		Approved	FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL1L1, IL-1F5, IL36RA, MGC29840	uc002tit.3	Q9UBH0	OTTHUMG00000131337	ENST00000393200.2:c.118G>C	2.37:g.113819703G>C	ENSP00000376896:p.Glu40Gln					IL36RN_ENST00000346807.3_Missense_Mutation_p.E40Q	p.E40Q	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN			4	279	+			40					A8K2I4|Q56AT9|Q7RTZ6	Missense_Mutation	SNP	ENST00000393200.2	37	c.118G>C	CCDS2111.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860225	0.71834	.	.	ENSG00000136695	ENST00000346807;ENST00000393200;ENST00000437409	T;T;T	0.78246	-1.16;-1.16;-1.16	5.36	5.36	0.76844	.	0.175673	0.49916	D	0.000126	D	0.85075	0.5614	L	0.59436	1.845	0.35816	D	0.824212	D	0.76494	0.999	D	0.68353	0.957	D	0.89324	0.3642	10	0.87932	D	0	-31.241	14.5869	0.68331	0.0:0.0:1.0:0.0	.	40	Q9UBH0	I36RA_HUMAN	Q	40	ENSP00000259212:E40Q;ENSP00000376896:E40Q;ENSP00000409262:E40Q	ENSP00000259212:E40Q	E	+	1	0	IL36RN	113536174	0.994000	0.37717	0.998000	0.56505	0.705000	0.40729	4.823000	0.62694	2.511000	0.84671	0.655000	0.94253	GAA		0.632	IL36RN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330729.1	NM_173170		7	8	0	0	0	1	0	7	8					C	113819703	G	C	113819703	3	2	451	1	0	0	0	0	1	0	0	0	7653	1291	45	5	128	5	IL1F5	2	113819703	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	26734458	113819703	129379670	10	30881											
PER2	8864	broad.mit.edu	37	chr2	239160292	239160292	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccggagcccagagactcCgaagcagcagagcccgaggc	11	1	15	14	3	0	2	0	0	0	2	1	7	1	3	4	2	5	2	4	2	1	0	rs569166271		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:239160292C>A	ENST00000254657.3	-	20	3501	c.3222G>T	c.(3220-3222)tcG>tcT	p.S1074S	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1074					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCAGAGACTCCGAAGCAGCAG	0.637																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(3220-3222)tcG>tcT		period circadian clock 2							105	105	105					2																	239160292		2203	4300	6503	SO:0001819	synonymous_variant	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239160292C>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3222G>T	2.37:g.239160292C>A						AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	p.S1074S	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		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)	20	3501	-		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)	1074					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	c.3222G>T	CCDS2528.1																																																																																				0.637	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		19	20	1	0	8.00594e-06	1	8.70822e-06	19	20					A	239160292	C	A	239160292	2	1	451	1	0	0	0	0	0	0	0	1	11730	639	23	5		5	PER2	2	239160292	Silent	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08	125340589	239160292	4039081	11	30882											
CCR2	729230	broad.mit.edu	37	chr3	46399612	46399612	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccttattttccacgaggatgGaataatttccacacaataat	14	13	5	9	1	0	0	0	0	0	0	2	3	2	2	3	2	0	0	3	2	5	6			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr3:46399612G>C	ENST00000400888.2	+	1	633	c.594G>C	c.(592-594)tgG>tgC	p.W198C	CCR2_ENST00000292301.4_Missense_Mutation_p.W198C|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000445132.2_Missense_Mutation_p.W198C			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	198					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CACGAGGATGGAATAATTTCC	0.463																																						ENST00000292301.4																			0				breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14						c.(592-594)tgG>tgC		chemokine (C-C motif) receptor 2							254	245	248					3																	46399612		1568	3582	5150	SO:0001583	missense	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399612G>C		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.594G>C	3.37:g.46399612G>C	ENSP00000383681:p.Trp198Cys					CCR2_ENST00000400888.2_Missense_Mutation_p.W198C|CCR2_ENST00000445132.2_Missense_Mutation_p.W198C|CCR2_ENST00000465202.1_3'UTR	p.W198C	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	1079	+			198					A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.594G>C	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804318	0.50315	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000400888	T;T;T	0.38722	1.12;1.12;1.12	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.80031	0.4549	H	0.98936	4.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88722	0.3230	10	0.87932	D	0	.	18.7457	0.91792	0.0:0.0:1.0:0.0	.	198;198	P41597;Q4VBL2	CCR2_HUMAN;.	C	198	ENSP00000399285:W198C;ENSP00000292301:W198C;ENSP00000383681:W198C	ENSP00000292301:W198C	W	+	3	0	CCR2	46374616	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	4.059000	0.57470	2.511000	0.84671	0.650000	0.86243	TGG		0.463	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		5	178	0	0	0	1	0	5	178					C	46399612	G	C	46399612	3	2	451	1	0	0	0	0	1	0	0	0	2941	1183	41	5	596	5	CCR2	3	46399612	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08		46399612	151622818	12	30883											
SNX4	8723	broad.mit.edu	37	chr3	125176113	125176113	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggaaaatactcaccccAgttaccagttcctcacactg	15	8	5	13	0	2	0	2	0	0	0	3	1	3	1	4	1	2	2	4	1	6	3			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr3:125176113A>G	ENST00000251775.4	-	11	1065	c.1041T>C	c.(1039-1041)acT>acC	p.T347T	SNX4_ENST00000536067.1_Silent_p.T202T	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	347					endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TACTCACCCCAGTTACCAGTT	0.473																																						ENST00000251775.4																			0				breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						c.(1039-1041)acT>acC		sorting nexin 4							172	140	151					3																	125176113		2203	4300	6503	SO:0001819	synonymous_variant	8723				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125176113A>G	AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"Sorting nexins"	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.1041T>C	3.37:g.125176113A>G						SNX4_ENST00000536067.1_Silent_p.T202T	p.T347T	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN			11	1065	-			347					B3KMH0|B4DQV4|D3DNA3	Silent	SNP	ENST00000251775.4	37	c.1041T>C	CCDS3032.1																																																																																				0.473	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1	NM_003794		4	57	0	0	0	1	0	4	57					G	125176113	A	G	125176113	2	3	451	1	0	0	0	0	0	0	0	1	14904	175	7	4		4	SNX4	3	125176113	Silent	SNP	A	TCGA-YL-A8HM-01A-11D-A364-08	78776501	125176113	72846317	13	30884											
KIAA1211	57482	broad.mit.edu	37	chr4	57181641	57181641	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctaagccccgccaggagtCtcccagcagcgcgtccgcac	7	4	12	18	4	1	0	0	0	1	0	3	1	2	1	5	2	3	3	5	2	1	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr4:57181641C>A	ENST00000504228.1	+	6	2078	c.1973C>A	c.(1972-1974)tCt>tAt	p.S658Y	KIAA1211_ENST00000541073.1_Missense_Mutation_p.S651Y|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S658Y			Q6ZU35	K1211_HUMAN	KIAA1211	658										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGCCAGGAGTCTCCCAGCAGC	0.677																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(1972-1974)tCt>tAt		KIAA1211							20	25	23					4																	57181641		1944	4117	6061	SO:0001583	missense	57482							g.chr4:57181641C>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1973C>A	4.37:g.57181641C>A	ENSP00000423366:p.Ser658Tyr					KIAA1211_ENST00000264229.6_Missense_Mutation_p.S658Y|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S651Y	p.S658Y			Q6ZU35	K1211_HUMAN			6	2078	+	Glioma(25;0.08)|all_neural(26;0.101)		658					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.1973C>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476392	0.63737	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02301	4.35;4.35;4.35	4.48	3.62	0.41486	.	.	.	.	.	T	0.09818	0.0241	L	0.59436	1.845	0.19300	N	0.999973	D;D;P	0.76494	0.999;0.999;0.946	D;D;P	0.69479	0.964;0.964;0.77	T	0.05716	-1.0868	9	0.87932	D	0	-1.4726	14.3247	0.66512	0.0:0.8504:0.1496:0.0	.	651;651;658	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	Y	658;658;651;568	ENSP00000264229:S658Y;ENSP00000423366:S658Y;ENSP00000444006:S651Y	ENSP00000264229:S658Y	S	+	2	0	KIAA1211	56876398	0.063000	0.20901	0.001000	0.08648	0.005000	0.04900	3.516000	0.53436	1.057000	0.40506	0.561000	0.74099	TCT		0.677	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		5	16	1	0	0.000602214	1	0.000612087	5	16					A	57181641	C	A	57181641	3	1	451	1	0	0	0	0	1	0	0	0	8215	913	32	5	1991	5	KIAA1211	4	57181641	Missense_Mutation	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08		57181641	133972635	14	30885											
HLA-DQA2	3118	broad.mit.edu	37	chr6	32714045	32714045	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attccagcccctatgtcagaGctcacagagactttggtctg	9	11	9	12	0	3	2	2	0	1	2	4	3	4	2	3	1	2	1	3	1	1	3			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr6:32714045G>A	ENST00000374940.3	+	4	744	c.642G>A	c.(640-642)gaG>gaA	p.E214E		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	214	Connecting peptide.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	CTATGTCAGAGCTCACAGAGA	0.557																																						ENST00000374940.3																			0				endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13						c.(640-642)gaG>gaA		major histocompatibility complex, class II, DQ alpha 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						167	163	164					6																	32714045		1511	2709	4220	SO:0001819	synonymous_variant	3118				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	g.chr6:32714045G>A		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.642G>A	6.37:g.32714045G>A							p.E214E	NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN			4	744	+			214			Connecting peptide.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	ENST00000374940.3	37	c.642G>A	CCDS4753.1																																																																																				0.557	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		23	51	0	0	0	1	0	23	51					A	32714045	G	A	32714045	2	1	451	1	0	0	0	0	0	0	0	1	7205	962	34	3		3	HLA-DQA2	6	32714045	Silent	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08		32714045	138401022	15	30886											
ETV1	2115	broad.mit.edu	37	chr7	13975392	13975392	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatggagggaggtgagctggGaaggcccggtcaggtttcgg	7	7	21	6	2	1	1	1	1	0	0	2	5	1	4	1	8	1	2	1	8	1	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr7:13975392G>A	ENST00000430479.1	-	8	1162	c.495C>T	c.(493-495)ttC>ttT	p.F165F	ETV1_ENST00000403685.1_Silent_p.F147F|ETV1_ENST00000420159.2_Silent_p.F107F|ETV1_ENST00000405358.4_Silent_p.F179F|ETV1_ENST00000405218.2_Silent_p.F165F|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403527.1_Silent_p.F125F|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000343495.5_Silent_p.F147F|ETV1_ENST00000405192.2_Silent_p.F165F|ETV1_ENST00000242066.5_Silent_p.F147F	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	165					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		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						GGTGAGCTGGGAAGGCCCGGT	0.552			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"M, E"	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"		"Ewing sarcoma, prostate"	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(439-441)ttC>ttT		ets variant 1							206	213	211					7																	13975392		2121	4252	6373	SO:0001819	synonymous_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13975392G>A		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.495C>T	7.37:g.13975392G>A						ETV1_ENST00000405218.2_Silent_p.F165F|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403685.1_Silent_p.F147F|ETV1_ENST00000242066.5_Silent_p.F147F|ETV1_ENST00000405358.4_Silent_p.F179F|ETV1_ENST00000430479.1_Silent_p.F165F|ETV1_ENST00000405192.2_Silent_p.F165F|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000420159.2_Silent_p.F107F|ETV1_ENST00000403527.1_Silent_p.F125F	p.F147F			P50549	ETV1_HUMAN			7	1179	-			165					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Silent	SNP	ENST00000430479.1	37	c.441C>T	CCDS55088.1																																																																																				0.552	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		84	70	0	0	0	1	0	84	70					A	13975392	G	A	13975392	2	1	451	1	0	0	0	0	0	0	0	1	5277	1165	41	3		3	ETV1	7	13975392	Silent	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08		13975392	145163271	16	30887											
EPHA1	2041	broad.mit.edu	37	chr7	143096819	143096819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctacaggcaccagccactCgccatcagggctgcagtgca	9	6	10	16	1	1	0	1	0	0	0	3	0	2	0	4	2	4	4	4	2	1	1	rs549085590		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr7:143096819C>T	ENST00000275815.3	-	4	846	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	254	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ACCAGCCACTCGCCATCAGGG	0.667													C|||	1	0.000199681	0	0.0014	5008	,	,		16126	0		0	False		,,,				2504	0					ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(760-762)Gag>Aag		EPH receptor A1							39	43	42					7																	143096819		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096819C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.760G>A	7.37:g.143096819C>T	ENSP00000275815:p.Glu254Lys						p.E254K	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			4	846	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	254			Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.760G>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130527	0.94473	.	.	ENSG00000146904	ENST00000275815	T	0.74106	-0.81	5.22	4.33	0.51752	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.000000	0.64402	D	0.000012	T	0.69342	0.3100	M	0.62088	1.915	0.50039	D	0.99984	D	0.53151	0.958	B	0.36418	0.224	T	0.76296	-0.3011	10	0.87932	D	0	.	16.1506	0.81618	0.0:0.8668:0.1332:0.0	.	254	P21709	EPHA1_HUMAN	K	254	ENSP00000275815:E254K	ENSP00000275815:E254K	E	-	1	0	EPHA1	142806941	0.993000	0.37304	0.926000	0.36857	0.950000	0.60333	3.077000	0.50089	1.407000	0.46875	0.655000	0.94253	GAG		0.667	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			3	45	0	0	0	1	0	3	45					T	143096819	C	T	143096819	3	4	451	1	0	0	0	0	1	0	0	0	5165	893	31	2	2230	2	EPHA1	7	143096819	Missense_Mutation	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08	129121427	143096819	16041844	17	30888											
ZNF786	136051	broad.mit.edu	37	chr7	148768340	148768340	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacactcgctacaggagaaCggcctctccccaccgtgccg	8	5	9	19	4	1	1	0	0	1	1	3	2	1	1	6	2	3	1	6	2	2	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr7:148768340C>T	ENST00000491431.1	-	4	1588	c.1524G>A	c.(1522-1524)ccG>ccA	p.P508P	ZNF786_ENST00000316286.9_Silent_p.P422P|ZNF786_ENST00000451334.3_Silent_p.P471P	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TACAGGAGAACGGCCTCTCCC	0.642																																						ENST00000316286.9																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(1264-1266)ccG>ccA		zinc finger protein 786							31	37	35					7																	148768340		2108	4246	6354	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148768340C>T	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"Zinc fingers, C2H2-type", "-"	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1524G>A	7.37:g.148768340C>T						ZNF786_ENST00000491431.1_Silent_p.P508P|ZNF786_ENST00000451334.3_Silent_p.P471P	p.P422P			Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	1538	-	Melanoma(164;0.15)		508					A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.1266G>A	CCDS47738.1																																																																																				0.642	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		5	47	0	0	0	1	0	5	47					T	148768340	C	T	148768340	2	4	451	1	0	0	0	0	0	0	0	1	18155	523	19	1		1	ZNF786	7	148768340	Silent	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08	5671521	148768340	10370323	18	30889											
ESCO2	157570	broad.mit.edu	37	chr8	27650318	27650318	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggtgtttaattgcagaacCcatcaaacaggtatggtata	13	12	10	6	0	1	1	1	0	0	1	1	1	1	1	1	3	3	4	1	3	6	6			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr8:27650318C>A	ENST00000305188.8	+	9	1725	c.1487C>A	c.(1486-1488)cCc>cAc	p.P496H	ESCO2_ENST00000397418.2_Missense_Mutation_p.P144H	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	496					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			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)		ATTGCAGAACCCATCAAACAG	0.328									SC Phocomelia syndrome																													ENST00000305188.8																			0				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						c.(1486-1488)cCc>cAc		establishment of sister chromatid cohesion N-acetyltransferase 2							45	46	46					8																	27650318		2203	4292	6495	SO:0001583	missense	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27650318C>A	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"Roberts syndrome", "establishment of cohesion 1 homolog 2 (S. cerevisiae)"	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.1487C>A	8.37:g.27650318C>A	ENSP00000306999:p.Pro496His					ESCO2_ENST00000397418.2_Missense_Mutation_p.P144H	p.P496H	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		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)	9	1725	+		Ovarian(32;0.000953)	496					B3KW59|Q49AP4	Missense_Mutation	SNP	ENST00000305188.8	37	c.1487C>A	CCDS34872.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264657	0.59431	.	.	ENSG00000171320	ENST00000305188;ENST00000397418	T;T	0.72835	-0.14;-0.69	5.82	3.81	0.43845	.	0.513960	0.22200	N	0.063252	T	0.50086	0.1595	N	0.17312	0.475	0.42008	D	0.99092	P	0.35507	0.506	B	0.30782	0.12	T	0.53027	-0.8496	10	0.37606	T	0.19	-9.848	10.8377	0.46696	0.1432:0.7179:0.1389:0.0	.	496	Q56NI9	ESCO2_HUMAN	H	496;144	ENSP00000306999:P496H;ENSP00000380563:P144H	ENSP00000306999:P496H	P	+	2	0	ESCO2	27706237	0.868000	0.29978	1.000000	0.80357	0.995000	0.86356	0.766000	0.26560	2.755000	0.94549	0.591000	0.81541	CCC		0.328	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		14	8	1	0	1.52009e-12	1	1.81242e-12	14	8					A	27650318	C	A	27650318	3	1	451	1	0	0	0	0	1	0	0	0	5249	623	22	5	1517	5	ESCO2	8	27650318	Missense_Mutation	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08		27650318	118713704	19	30890											
PEX2	5828	broad.mit.edu	37	chr8	77895648	77895648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatatgctcacatcctatgGtgtgaggcatggtgggccac	10	10	12	9	0	1	1	1	1	0	0	2	1	2	1	2	4	1	2	2	4	3	2			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr8:77895648G>A	ENST00000419564.2	-	4	1231	c.767C>T	c.(766-768)aCc>aTc	p.T256I	PEX2_ENST00000357039.4_Missense_Mutation_p.T256I|PEX2_ENST00000522527.1_Missense_Mutation_p.T256I|PEX2_ENST00000520103.1_Missense_Mutation_p.T256I	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	256					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						ACATCCTATGGTGTGAGGCAT	0.433																																						ENST00000419564.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						c.(766-768)aCc>aTc		peroxisomal biogenesis factor 2							90	83	85					8																	77895648		2203	4300	6503	SO:0001583	missense	5828				peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	g.chr8:77895648G>A	M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"RING-type (C3HC4) zinc fingers"	9717	protein-coding gene	gene with protein product	"Zellweger syndrome", "peroxin 2"	170993	"peroxisomal membrane protein 3 (35kD, Zellweger syndrome)", "peroxisomal membrane protein 3, 35kDa"	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.767C>T	8.37:g.77895648G>A	ENSP00000400984:p.Thr256Ile					PEX2_ENST00000357039.4_Missense_Mutation_p.T256I|PEX2_ENST00000522527.1_Missense_Mutation_p.T256I|PEX2_ENST00000520103.1_Missense_Mutation_p.T256I	p.T256I	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN			4	1231	-			256					Q567S6|Q9BW41	Missense_Mutation	SNP	ENST00000419564.2	37	c.767C>T	CCDS6221.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294380	0.60086	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527	D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08	5.35	5.35	0.76521	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.160623	0.53938	D	0.000045	D	0.86276	0.5894	L	0.32530	0.975	0.50632	D	0.999888	P	0.49253	0.921	P	0.49829	0.623	D	0.84419	0.0570	10	0.31617	T	0.26	-18.92	19.2714	0.94011	0.0:0.0:1.0:0.0	.	256	P28328	PEX2_HUMAN	I	256	ENSP00000349543:T256I;ENSP00000400984:T256I;ENSP00000428590:T256I;ENSP00000428638:T256I	ENSP00000349543:T256I	T	-	2	0	PEX2	78058203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.162000	0.71874	2.792000	0.96026	0.557000	0.71058	ACC		0.433	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		17	92	0	0	0	1	0	17	92					A	77895648	G	A	77895648	3	1	451	1	0	0	0	0	1	0	0	0	11745	1261	44	3	154	3	PEX2	8	77895648	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	50245330	77895648	68468374	20	30891											
ZNF483	158399	broad.mit.edu	37	chr9	114304902	114304902	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggaaaatccttcagtcatAgctcatccctttccaaacat	12	12	5	12	0	3	0	3	0	0	0	6	1	6	1	3	1	2	1	3	1	4	3			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr9:114304902A>T	ENST00000309235.5	+	6	1845	c.1687A>T	c.(1687-1689)Agc>Tgc	p.S563C	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CTTCAGTCATAGCTCATCCCT	0.408																																						ENST00000309235.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						c.(1687-1689)Agc>Tgc		zinc finger protein 483							61	67	65					9																	114304902		2203	4300	6503	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304902A>T	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"Zinc fingers, C2H2-type", "-", "-", "-"	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1687A>T	9.37:g.114304902A>T	ENSP00000311679:p.Ser563Cys					ZNF483_ENST00000358151.4_Intron	p.S563C	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN			6	1845	+			563					Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.1687A>T	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.595105	0.46318	.	.	ENSG00000173258	ENST00000309235	T	0.33216	1.42	3.84	3.84	0.44239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000031	T	0.41581	0.1165	M	0.83223	2.63	0.24495	N	0.994287	D	0.63880	0.993	P	0.49922	0.626	T	0.42447	-0.9451	10	0.52906	T	0.07	-15.5217	6.7154	0.23300	0.79:0.0:0.0:0.2099	.	563	Q8TF39	ZN483_HUMAN	C	563	ENSP00000311679:S563C	ENSP00000311679:S563C	S	+	1	0	ZNF483	113344723	0.000000	0.05858	0.999000	0.59377	0.992000	0.81027	0.304000	0.19228	1.972000	0.57404	0.533000	0.62120	AGC		0.408	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		12	54	0	0	0	1	0	12	54					T	114304902	A	T	114304902	3	4	451	1	0	0	0	0	1	0	0	0	17933	420	15	5	1705	5	ZNF483	9	114304902	Missense_Mutation	SNP	A	TCGA-YL-A8HM-01A-11D-A364-08		114304902	26908529	21	30892											
AP3M1	26985	broad.mit.edu	37	chr10	75896496	75896496	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccattgtctaacatttcttcTaagagttcatatactatgac	12	16	4	9	0	4	2	1	1	3	1	4	2	4	2	1	0	2	1	1	0	5	9			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr10:75896496T>G	ENST00000355264.4	-	3	650	c.339A>C	c.(337-339)ttA>ttC	p.L113F	AP3M1_ENST00000372745.1_Missense_Mutation_p.L113F|AP3M1_ENST00000487653.1_5'Flank	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	113					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					ACATTTCTTCTAAGAGTTCAT	0.358																																						ENST00000355264.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13						c.(337-339)ttA>ttC		adaptor-related protein complex 3, mu 1 subunit							134	125	128					10																	75896496		2203	4300	6503	SO:0001583	missense	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75896496T>G	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.339A>C	10.37:g.75896496T>G	ENSP00000347408:p.Leu113Phe					AP3M1_ENST00000372745.1_Missense_Mutation_p.L113F	p.L113F	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN			3	650	-	Prostate(51;0.0112)		113					Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	c.339A>C	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850911	0.71719	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	D;D	0.88509	-2.39;-2.39	5.74	0.438	0.16560	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.64402	D	0.000001	D	0.93851	0.8033	M	0.91717	3.235	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.90858	0.4736	10	0.66056	D	0.02	.	6.3593	0.21419	0.1087:0.5135:0.0:0.3778	.	113	Q9Y2T2	AP3M1_HUMAN	F	113	ENSP00000347408:L113F;ENSP00000361831:L113F	ENSP00000347408:L113F	L	-	3	2	AP3M1	75566502	0.983000	0.35010	0.994000	0.49952	0.977000	0.68977	0.211000	0.17474	-0.127000	0.11661	-1.144000	0.01866	TTA		0.358	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			10	29	0	0	0	1	0	10	29					G	75896496	T	G	75896496	3	3	451	1	0	0	0	0	1	0	0	0	747	1519	53	5	945	5	AP3M1	10	75896496	Missense_Mutation	SNP	T	TCGA-YL-A8HM-01A-11D-A364-08		75896496	59638251	22	30893											
C10orf96	374355	broad.mit.edu	37	chr10	118117378	118117378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagagaatgaatccatttGtactaccaaatatctagagg	16	11	8	6	0	1	4	0	2	1	2	2	5	2	4	2	1	2	1	2	1	8	5			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr10:118117378G>T	ENST00000333254.3	+	7	832	c.581G>T	c.(580-582)tGt>tTt	p.C194F		NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	194																	GAATCCATTTGTACTACCAAA	0.274																																						ENST00000333254.3																			0											c.(580-582)tGt>tTt		coiled-coil domain containing 172							47	50	49					10																	118117378		2198	4284	6482	SO:0001583	missense	374355							g.chr10:118117378G>T	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 96"	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.581G>T	10.37:g.118117378G>T	ENSP00000329860:p.Cys194Phe						p.C194F	NM_198515.2	NP_940917.1					7	832	+									Missense_Mutation	SNP	ENST00000333254.3	37	c.581G>T	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	G	1.635	-0.517979	0.04171	.	.	ENSG00000182645	ENST00000333254	.	.	.	5.62	-0.968	0.10313	.	1.018280	0.07820	N	0.959647	T	0.31451	0.0797	L	0.57536	1.79	0.09310	N	1	B	0.30439	0.279	B	0.26693	0.072	T	0.26573	-1.0099	9	0.10111	T	0.7	-9.1956	6.1445	0.20278	0.4902:0.0:0.3863:0.1234	.	194	P0C7W6	CJ096_HUMAN	F	194	.	ENSP00000329860:C194F	C	+	2	0	C10orf96	118107368	0.061000	0.20836	0.992000	0.48379	0.969000	0.65631	-0.142000	0.10311	0.009000	0.14813	-0.140000	0.14226	TGT		0.274	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		3	22	1	0	0.115264	1	0.115264	3	22					T	118117378	G	T	118117378	3	4	451	1	0	0	0	0	1	0	0	0	1627	1377	48	5	603	5	C10orf96	10	118117378	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	42220882	118117378	17417369	23	30894											
KNDC1	85442	broad.mit.edu	37	chr10	135025035	135025035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggacttccctcggaacagcGggctgctggggaagctagag	8	7	16	10	2	0	1	0	0	0	1	2	4	1	4	1	5	4	3	1	5	3	2			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr10:135025035G>T	ENST00000304613.3	+	22	4039	c.4018G>T	c.(4018-4020)Ggg>Tgg	p.G1340W	KNDC1_ENST00000368572.2_Missense_Mutation_p.G1342W			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1340	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCGGAACAGCGGGCTGCTGGG	0.667																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(4018-4020)Ggg>Tgg		kinase non-catalytic C-lobe domain (KIND) containing 1							88	91	90					10																	135025035		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135025035G>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4018G>T	10.37:g.135025035G>T	ENSP00000304437:p.Gly1340Trp					KNDC1_ENST00000368572.2_Missense_Mutation_p.G1342W	p.G1340W			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	22	4039	+		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)	1340			N-terminal Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.4018G>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404119	0.25291	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.50001	0.76;0.76	3.96	2.01	0.26516	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.803958	0.11184	U	0.590657	T	0.57110	0.2031	L	0.43152	1.355	0.09310	N	1	D	0.76494	0.999	D	0.71414	0.973	T	0.42916	-0.9423	10	0.72032	D	0.01	-15.4731	8.8163	0.34998	0.2134:0.0:0.7866:0.0	.	1340	Q76NI1	VKIND_HUMAN	W	1340;1342	ENSP00000304437:G1340W;ENSP00000357561:G1342W	ENSP00000304437:G1340W	G	+	1	0	KNDC1	134875025	0.016000	0.18221	0.063000	0.19743	0.165000	0.22458	1.429000	0.34903	0.789000	0.33779	0.297000	0.19635	GGG		0.667	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		30	40	1	0	1.836e-18	1	2.232e-18	30	40					T	135025035	G	T	135025035	3	4	451	1	0	0	0	0	1	0	0	0	8426	1116	39	5	4104	5	KNDC1	10	135025035	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	16907657	135025035	509712	24	30895											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466440	57466440	+	Frame_Shift_Del	DEL	A	A	-																															caggctggcccagcaacgggAagctgagaggcacccacgtt																										TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr11:57466440delA	ENST00000287169.3	+	11	2894	c.1532delA	c.(1531-1533)gaafs	p.E511fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Del_p.E458fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	511					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CAGCAACGGGAAGCTGAGAGG	0.602																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1531-1533)gafs		zinc finger, DHHC-type containing 5							62	58	59					11																	57466440		2201	4296	6497	SO:0001589	frameshift_variant	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57466440delA	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"Zinc fingers, DHHC-type"	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1532delA	11.37:g.57466440delA	ENSP00000287169:p.Glu511fs					ZDHHC5_ENST00000527985.1_Frame_Shift_Del_p.E458fs	p.E511fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			11	2894	+			511					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Frame_Shift_Del	DEL	ENST00000287169.3	37	c.1532delA	CCDS7965.1																																																																																				0.602	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		14	31						14	31	---	---	---	---	-	57466440	A	-	57466440	7	5	451	1	0	1	0	1	0	0	0	0	17615	246	9	0	1570	0	ZDHHC5	11	57466440	Frame_Shift_Del	DEL	A	TCGA-YL-A8HM-01A-11D-A364-08		57466440	77540076	25	30896											
KIF5A	3798	broad.mit.edu	37	chr12	57972038	57972038	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtgcagaaatggagccCgaagacagtggggggattca	13	5	16	7	1	1	3	1	0	0	3	1	6	1	5	1	4	2	1	1	4	2	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr12:57972038C>T	ENST00000455537.2	+	23	2725	c.2451C>T	c.(2449-2451)ccC>ccT	p.P817P	KIF5A_ENST00000286452.5_Silent_p.P728P	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	817					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			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						AAATGGAGCCCGAAGACAGTG	0.512																																						ENST00000455537.2																			0				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						c.(2449-2451)ccC>ccT		kinesin family member 5A							98	97	97					12																	57972038		2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57972038C>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2451C>T	12.37:g.57972038C>T						KIF5A_ENST00000286452.5_Silent_p.P728P	p.P817P	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			23	2725	+			817					A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.2451C>T	CCDS8945.1																																																																																				0.512	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		7	100	0	0	0	1	0	7	100					T	57972038	C	T	57972038	2	4	451	1	0	0	0	0	0	0	0	1	8305	639	23	2		2	KIF5A	12	57972038	Silent	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08		57972038	75879857	26	30897											
TRPV4	59341	broad.mit.edu	37	chr12	110238504	110238504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcagctccctgggccaCgagaagttccacgtagtgtt	9	9	11	12	2	1	1	1	0	0	1	3	3	3	1	3	1	1	4	3	1	2	3	rs138419280		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr12:110238504C>T	ENST00000418703.2	-	4	866	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000537083.1_Missense_Mutation_p.V258M|TRPV4_ENST00000536838.1_Missense_Mutation_p.V224M|TRPV4_ENST00000346520.2_Missense_Mutation_p.V258M|TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000261740.2_Missense_Mutation_p.V258M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	258					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			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						CCCTGGGCCACGAGAAGTTCC	0.642																																						ENST00000418703.2																			0				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						c.(772-774)Gtg>Atg		transient receptor potential cation channel, subfamily V, member 4		C	,MET/VAL,,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	84	67	73		,670,,772,772	4	1	12	dbSNP_134	73	0,8600		0,0,4300	no	intron,missense,intron,missense,missense	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	,21,,21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,probably-damaging,,probably-damaging,probably-damaging	,224/838,,258/872,258/812	110238504	1,13005	2203	4300	6503	SO:0001583	missense	59341				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	g.chr12:110238504C>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.772G>A	12.37:g.110238504C>T	ENSP00000406191:p.Val258Met					TRPV4_ENST00000346520.2_Missense_Mutation_p.V258M|TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000261740.2_Missense_Mutation_p.V258M|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000537083.1_Missense_Mutation_p.V258M|TRPV4_ENST00000536838.1_Missense_Mutation_p.V224M	p.V258M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			4	866	-			258					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.772G>A	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196179	0.58126	2.27E-4	0.0	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000346520;ENST00000537083;ENST00000536838	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	4.92	4.03	0.46877	Ankyrin repeat-containing domain (3);	0.184267	0.47852	D	0.000214	T	0.72946	0.3524	L	0.38953	1.18	0.36669	D	0.878405	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.933;0.975	T	0.78974	-0.1992	10	0.87932	D	0	-12.1954	12.0442	0.53471	0.0:0.9156:0.0:0.0844	.	258;258;224	Q9HBA0-2;Q9HBA0;Q9HBA0-5	.;TRPV4_HUMAN;.	M	258;258;258;258;224	ENSP00000406191:V258M;ENSP00000261740:V258M;ENSP00000319003:V258M;ENSP00000442738:V258M;ENSP00000444336:V224M	ENSP00000261740:V258M	V	-	1	0	TRPV4	108722887	1.000000	0.71417	0.963000	0.40424	0.371000	0.29859	3.548000	0.53670	1.210000	0.43336	0.655000	0.94253	GTG		0.642	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		3	44	0	0	0	1	0	3	44					T	110238504	C	T	110238504	3	4	451	1	0	0	0	0	1	0	0	0	16595	536	19	1	1891	1	TRPV4	12	110238504	Missense_Mutation	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08	52266466	110238504	23613391	27	30898											
PIWIL1	9271	broad.mit.edu	37	chr12	130841508	130841508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attggtccaaagaaacaagaGgtgcaccattaattagtgtt	15	11	9	6	0	0	2	0	0	0	2	1	2	1	2	2	2	2	2	2	2	5	4			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr12:130841508G>T	ENST00000245255.3	+	13	1722	c.1450G>T	c.(1450-1452)Ggt>Tgt	p.G484C		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	484					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			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)		AGAAACAAGAGGTGCACCATT	0.353																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(1450-1452)Ggt>Tgt		piwi-like RNA-mediated gene silencing 1							103	95	98					12																	130841508		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130841508G>T	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1450G>T	12.37:g.130841508G>T	ENSP00000245255:p.Gly484Cys						p.G484C	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	13	1722	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		484					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1450G>T	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998547	0.74818	.	.	ENSG00000125207	ENST00000245255	T	0.14640	2.49	5.41	4.51	0.55191	Ribonuclease H-like (1);	0.046949	0.85682	D	0.000000	T	0.34337	0.0894	M	0.72118	2.19	0.53688	D	0.999977	D;D	0.76494	0.996;0.999	P;D	0.68621	0.784;0.959	T	0.04693	-1.0933	10	0.62326	D	0.03	-17.2893	13.6369	0.62227	0.0762:0.0:0.9238:0.0	.	484;484	Q96J94;Q96J94-2	PIWL1_HUMAN;.	C	484	ENSP00000245255:G484C	ENSP00000245255:G484C	G	+	1	0	PIWIL1	129407461	1.000000	0.71417	0.333000	0.25482	0.947000	0.59692	6.546000	0.73887	2.512000	0.84698	0.655000	0.94253	GGT		0.353	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			6	39	1	0	8.12818e-05	1	8.54148e-05	6	39					T	130841508	G	T	130841508	3	4	451	1	0	0	0	0	1	0	0	0	11957	1000	35	5	1496	5	PIWIL1	12	130841508	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	20603004	130841508	3010387	28	30899											
PIWIL1	9271	broad.mit.edu	37	chr12	130851735	130851735	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaccagattttttgctcaGtctggaggaagacttcagaa	13	11	9	8	0	3	3	2	0	1	3	3	5	3	5	1	2	2	1	1	2	3	4			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr12:130851735G>C	ENST00000245255.3	+	19	2525	c.2253G>C	c.(2251-2253)caG>caC	p.Q751H	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	751	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			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)		TTTTTGCTCAGTCTGGAGGAA	0.398																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(2251-2253)caG>caC		piwi-like RNA-mediated gene silencing 1							167	153	158					12																	130851735		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130851735G>C	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2253G>C	12.37:g.130851735G>C	ENSP00000245255:p.Gln751His					PIWIL1_ENST00000541480.1_3'UTR	p.Q751H	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	19	2525	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		751			Piwi.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.2253G>C	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126999	0.37533	.	.	ENSG00000125207	ENST00000245255	T	0.31510	1.49	5.78	3.98	0.46160	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.437390	0.26207	N	0.025708	T	0.19604	0.0471	L	0.28274	0.84	0.34223	D	0.67563	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.003	T	0.12451	-1.0547	10	0.48119	T	0.1	-19.3782	6.563	0.22497	0.1479:0.0:0.7071:0.1449	.	751;751	Q96J94;Q96J94-2	PIWL1_HUMAN;.	H	751	ENSP00000245255:Q751H	ENSP00000245255:Q751H	Q	+	3	2	PIWIL1	129417688	0.002000	0.14202	1.000000	0.80357	0.988000	0.76386	0.091000	0.15046	0.805000	0.34159	0.591000	0.81541	CAG		0.398	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			40	46	0	0	0	1	0	40	46					C	130851735	G	C	130851735	3	2	451	1	0	0	0	0	1	0	0	0	11957	1020	36	5	2323	5	PIWIL1	12	130851735	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	10227	130851735	3000160	29	30900											
C14orf115	55237	broad.mit.edu	37	chr14	74824966	74824966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtgaggaccctcccgccCccggggagctcctgccacta	6	5	12	18	2	0	1	0	1	0	0	2	3	2	3	6	4	2	1	6	4	1	1	rs144045913		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr14:74824966C>T	ENST00000256362.4	+	2	1721	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	494					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCCTCCCGCCCCCGGGGAGCT	0.652																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1480-1482)Ccc>Tcc		vertebrae development associated		C	SER/PRO	0,4396		0,0,2198	30	37	34		1480	-1.3	0	14	dbSNP_134	34	1,8575		0,1,4287	no	missense	VRTN	NM_018228.2	74	0,1,6485	TT,TC,CC		0.0117,0.0,0.0077	benign	494/703	74824966	1,12971	2198	4288	6486	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824966C>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1480C>T	14.37:g.74824966C>T	ENSP00000256362:p.Pro494Ser						p.P494S	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1721	+			494					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.1480C>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	C	4.507	0.094074	0.08632	0.0	1.17E-4	ENSG00000133980	ENST00000256362	T	0.39787	1.06	4.19	-1.31	0.09230	.	0.394257	0.24447	N	0.038456	T	0.17152	0.0412	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.24905	-1.0147	10	0.08179	T	0.78	-7.2282	5.9701	0.19346	0.0:0.3418:0.3539:0.3043	.	494	Q9H8Y1	VRTN_HUMAN	S	494	ENSP00000256362:P494S	ENSP00000256362:P494S	P	+	1	0	VRTN	73894719	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.874000	0.04210	0.066000	0.16515	0.491000	0.48974	CCC		0.652	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		16	39	0	0	0	1	0	16	39					T	74824966	C	T	74824966	3	4	451	1	0	0	0	0	1	0	0	0	1740	623	22	3	1482	3	C14orf115	14	74824966	Missense_Mutation	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08		74824966	32524574	30	30901											
SERPINA9	327657	broad.mit.edu	37	chr14	94929536	94929536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggagacagtgaagtaaGaggggccatccttcgatcgg	12	7	15	7	2	0	4	0	2	0	2	3	6	1	4	2	4	0	1	2	4	3	2			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr14:94929536G>T	ENST00000380365.3	-	5	1226	c.1148C>A	c.(1147-1149)tCt>tAt	p.S383Y	SERPINA9_ENST00000448305.2_Missense_Mutation_p.S303Y|SERPINA9_ENST00000424550.2_Missense_Mutation_p.S252Y|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000337425.5_Missense_Mutation_p.S401Y|SERPINA9_ENST00000298845.7_Missense_Mutation_p.S301Y			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	383					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGTGAAGTAAGAGGGGCCATC	0.488																																						ENST00000337425.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(1201-1203)tCt>tAt		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9							153	154	154					14																	94929536		2079	4196	6275	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94929536G>T	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.1148C>A	14.37:g.94929536G>T	ENSP00000369723:p.Ser383Tyr					SERPINA9_ENST00000424550.2_Missense_Mutation_p.S252Y|SERPINA9_ENST00000298845.7_Missense_Mutation_p.S301Y|SERPINA9_ENST00000380365.3_Missense_Mutation_p.S383Y|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000448305.2_Missense_Mutation_p.S303Y	p.S401Y	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	5	1276	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	383					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.1202C>A		.	.	.	.	.	.	.	.	.	.	G	14.20	2.465925	0.43839	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365	D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97	4.21	0.0189	0.14118	.	1.073310	0.07570	U	0.918416	T	0.80660	0.4665	L	0.47190	1.495	0.09310	N	1	P;B;P	0.50156	0.801;0.064;0.932	P;B;P	0.50659	0.476;0.064;0.647	T	0.66217	-0.5979	10	0.02654	T	1	.	5.4523	0.16572	0.2614:0.0:0.597:0.1416	.	303;401;301	Q86WD7-6;Q86WD7-7;Q86WD7-2	.;.;.	Y	303;301;252;401;383	ENSP00000414092:S303Y;ENSP00000298845:S301Y;ENSP00000409012:S252Y;ENSP00000337133:S401Y;ENSP00000369723:S383Y	ENSP00000298845:S301Y	S	-	2	0	SERPINA9	93999289	0.000000	0.05858	0.004000	0.12327	0.132000	0.20833	-0.802000	0.04545	0.184000	0.20083	0.561000	0.74099	TCT		0.488	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		8	48	1	0	0.000157383	1	0.000162629	8	48					T	94929536	G	T	94929536	3	4	451	1	0	0	0	0	1	0	0	0	14095	942	33	5	109	5	SERPINA9	14	94929536	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	20104570	94929536	12420004	31	30902											
SLC12A6	9990	broad.mit.edu	37	chr15	34527452	34527452	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagctttgcttcatgggaCttgttaactataacctcgtt	9	15	7	10	1	1	0	1	0	0	0	2	1	1	1	2	1	4	4	2	1	3	7			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr15:34527452C>T	ENST00000354181.3	-	25	3783	c.3291G>A	c.(3289-3291)aaG>aaA	p.K1097K	SLC12A6_ENST00000451844.2_Silent_p.K909K|SLC12A6_ENST00000397702.2_Silent_p.K1038K|SLC12A6_ENST00000560164.1_Silent_p.K909K|SLC12A6_ENST00000558667.1_Silent_p.K1097K|SLC12A6_ENST00000560611.1_Silent_p.K1097K|SLC12A6_ENST00000290209.5_Silent_p.K1046K|SLC12A6_ENST00000397707.2_Silent_p.K1082K|SLC12A6_ENST00000458406.2_Silent_p.K1038K|SLC12A6_ENST00000558589.1_Silent_p.K1088K			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	1097					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTTCATGGGACTTGTTAACTA	0.458																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(3289-3291)aaG>aaA		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						115	108	110					15																	34527452		2201	4298	6499	SO:0001819	synonymous_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34527452C>T	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.3291G>A	15.37:g.34527452C>T						SLC12A6_ENST00000451844.2_Silent_p.K909K|SLC12A6_ENST00000397702.2_Silent_p.K1038K|SLC12A6_ENST00000290209.5_Silent_p.K1046K|SLC12A6_ENST00000558667.1_Silent_p.K1097K|SLC12A6_ENST00000458406.2_Silent_p.K1038K|SLC12A6_ENST00000560611.1_Silent_p.K1097K|SLC12A6_ENST00000558589.1_Silent_p.K1088K|SLC12A6_ENST00000397707.2_Silent_p.K1082K|SLC12A6_ENST00000560164.1_Silent_p.K909K	p.K1097K			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	25	3783	-		all_lung(180;2.78e-08)	1097					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	c.3291G>A	CCDS58352.1																																																																																				0.458	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		9	18	0	0	0	1	0	9	18					T	34527452	C	T	34527452	2	4	451	1	0	0	0	0	0	0	0	1	14387	564	20	3		3	SLC12A6	15	34527452	Silent	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08		34527452	68003940	32	30903											
PLIN1	5346	broad.mit.edu	37	chr15	90216448	90216448	+	Frame_Shift_Del	DEL	G	G	-																															cgcaaggactcacactgggtGgacagcctgcggaccaccgg																										TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr15:90216448delG	ENST00000300055.5	-	3	408	c.243delC	c.(241-243)tccfs	p.S81fs	PLIN1_ENST00000430628.2_Frame_Shift_Del_p.S81fs	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	81					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						CACACTGGGTGGACAGCCTGC	0.612											OREG0023461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000300055.5																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						c.(241-243)tcfs		perilipin 1							23	19	20					15																	90216448		2196	4281	6477	SO:0001589	frameshift_variant	5346				triglyceride catabolic process	lipid particle	lipid binding	g.chr15:90216448delG	AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"Perilipins"	9076	protein-coding gene	gene with protein product		170290	"perilipin"	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.243delC	15.37:g.90216448delG	ENSP00000300055:p.Ser81fs		OREG0023461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1273	PLIN1_ENST00000430628.2_Frame_Shift_Del_p.S81fs	p.S81fs	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN			3	408	-			81					Q8N5Y6	Frame_Shift_Del	DEL	ENST00000300055.5	37	c.243delC	CCDS10353.1																																																																																				0.612	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313424.2	NM_002666		2	4						2	4	---	---	---	---	-	90216448	G	-	90216448	7	5	451	1	0	1	0	1	0	0	0	0	12089	1335	47	0	1353	0	PLIN1	15	90216448	Frame_Shift_Del	DEL	G	TCGA-YL-A8HM-01A-11D-A364-08	55688996	90216448	12314944	33	30904											
MYH11	4629	broad.mit.edu	37	chr16	15839063	15839063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgaatcaccttcatggCggtcagctgctgctgcctct	5	12	9	15	1	5	1	3	1	2	0	5	1	5	1	3	2	4	3	3	2	1	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr16:15839063C>T	ENST00000300036.5	-	20	2552	c.2443G>A	c.(2443-2445)Gcc>Acc	p.A815T	MYH11_ENST00000396324.3_Missense_Mutation_p.A822T|MYH11_ENST00000576790.2_Missense_Mutation_p.A815T|MYH11_ENST00000452625.2_Missense_Mutation_p.A822T	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	815	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			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						ACCTTCATGGCGGTCAGCTGC	0.617			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				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						c.(2443-2445)Gcc>Acc		myosin, heavy chain 11, smooth muscle							68	64	65					16																	15839063		2197	4300	6497	SO:0001583	missense	4629				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	g.chr16:15839063C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2443G>A	16.37:g.15839063C>T	ENSP00000300036:p.Ala815Thr					MYH11_ENST00000576790.1_Missense_Mutation_p.A815T|MYH11_ENST00000452625.2_Missense_Mutation_p.A822T|MYH11_ENST00000396324.3_Missense_Mutation_p.A822T|MYH11_ENST00000300036.5_Missense_Mutation_p.A815T	p.A815T	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			20	2549	-			815			IQ.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2443G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324599	0.95708	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.91520	0.7322	H	0.95745	3.715	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.935	D	0.94273	0.7512	10	0.87932	D	0	.	16.5013	0.84257	0.0:1.0:0.0:0.0	.	822;815;822;815;822	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	T	815;815;822;822;822	ENSP00000300036:A815T;ENSP00000345136:A815T;ENSP00000379616:A822T;ENSP00000407821:A822T	ENSP00000300036:A815T	A	-	1	0	MYH11	15746564	1.000000	0.71417	0.936000	0.37596	0.966000	0.64601	7.810000	0.86072	2.112000	0.64535	0.549000	0.68633	GCC		0.617	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		8	64	0	0	0	1	0	8	64					T	15839063	C	T	15839063	3	4	451	1	0	0	0	0	1	0	0	0	10031	768	27	1	3598	1	MYH11	16	15839063	Missense_Mutation	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08		15839063	74515690	34	30905											
ZNF646	9726	broad.mit.edu	37	chr16	31090753	31090753	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccccttgggagacagcctCtgcatccagggtggggaaag	9	6	14	12	0	1	1	0	0	1	1	2	3	2	2	4	4	2	1	4	4	1	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr16:31090753C>T	ENST00000394979.2	+	1	3531	c.3108C>T	c.(3106-3108)ctC>ctT	p.L1036L	ZNF646_ENST00000300850.5_Silent_p.L1036L			O15015	ZN646_HUMAN	zinc finger protein 646	1036					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAGACAGCCTCTGCATCCAGG	0.597																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(3106-3108)ctC>ctT		zinc finger protein 646							105	106	106					16																	31090753		2197	4300	6497	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090753C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3108C>T	16.37:g.31090753C>T						ZNF646_ENST00000300850.5_Silent_p.L1036L	p.L1036L			O15015	ZN646_HUMAN			1	3531	+			1036					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.3108C>T																																																																																					0.597	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		64	52	0	0	0	1	0	64	52					T	31090753	C	T	31090753	2	4	451	1	0	0	0	0	0	0	0	1	18059	900	32	3		3	ZNF646	16	31090753	Silent	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08	15251690	31090753	59264000	35	30906											
ZNF267	10308	broad.mit.edu	37	chr16	31926190	31926190	+	Frame_Shift_Del	DEL	G	G	-																															ctctactctaaatagttaccGaaatgtttttattggagaga																										TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr16:31926190delG	ENST00000300870.10	+	4	829	c.620delG	c.(619-621)cgafs	p.R207fs		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	207					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R207Q(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AATAGTTACCGAAATGTTTTT	0.299																																						ENST00000300870.10																			1	Substitution - Missense(1)	p.R207Q(1)	large_intestine(1)	breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(619-621)cafs		zinc finger protein 267							32	35	34					16																	31926190		2197	4290	6487	SO:0001589	frameshift_variant	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31926190delG	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.620delG	16.37:g.31926190delG	ENSP00000300870:p.Arg207fs					RP11-170L3.8_ENST00000575471.1_RNA	p.R207fs	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN			4	829	+			207					A0JNZ9|Q8NE41|Q9NRJ0	Frame_Shift_Del	DEL	ENST00000300870.10	37	c.620delG	CCDS32440.1																																																																																				0.299	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		8	45						8	45	---	---	---	---	-	31926190	G	-	31926190	7	5	451	1	0	1	0	1	0	0	0	0	17803	1058	37	0	634	0	ZNF267	16	31926190	Frame_Shift_Del	DEL	G	TCGA-YL-A8HM-01A-11D-A364-08	835437	31926190	58428563	36	30907											
NOB1	28987	broad.mit.edu	37	chr16	69786182	69786182	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggtgagacaccccaacaaActctgcttccaactggtatg	12	9	8	12	0	1	1	0	1	1	1	2	2	2	1	3	2	4	2	3	2	5	3			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr16:69786182A>G	ENST00000268802.5	-	3	318	c.289T>C	c.(289-291)Ttt>Ctt	p.F97L		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	97	PINc.				visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACCCCAACAAACTCTGCTTCC	0.433																																						ENST00000268802.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(289-291)Ttt>Ctt		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)							171	164	166					16																	69786182		2198	4300	6498	SO:0001583	missense	28987					nucleus	metal ion binding|protein binding	g.chr16:69786182A>G	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"nin one binding protein"	613586	"PSMD8 binding protein 1"	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.289T>C	16.37:g.69786182A>G	ENSP00000268802:p.Phe97Leu						p.F97L	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN			3	318	-			97			PINc.		Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Missense_Mutation	SNP	ENST00000268802.5	37	c.289T>C	CCDS10884.1	.	.	.	.	.	.	.	.	.	.	A	9.399	1.077474	0.20227	.	.	ENSG00000141101	ENST00000268802	T	0.27890	1.64	5.21	4.1	0.47936	Nucleotide binding protein, PINc (1);	1.962480	0.01889	N	0.038403	T	0.11836	0.0288	N	0.01228	-0.945	0.23546	N	0.997446	B	0.02656	0.0	B	0.01281	0.0	T	0.32241	-0.9914	9	.	.	.	.	3.8791	0.09071	0.6313:0.0:0.1623:0.2064	.	97	Q9ULX3	NOB1_HUMAN	L	97	ENSP00000268802:F97L	.	F	-	1	0	NOB1	68343683	0.977000	0.34250	0.956000	0.39512	0.992000	0.81027	1.444000	0.35068	2.077000	0.62373	0.533000	0.62120	TTT		0.433	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		8	52	0	0	0	1	0	8	52					G	69786182	A	G	69786182	3	3	451	1	0	0	0	0	1	0	0	0	10511	43	2	4	977	4	NOB1	16	69786182	Missense_Mutation	SNP	A	TCGA-YL-A8HM-01A-11D-A364-08	37859992	69786182	20568571	37	30908											
MYH1	4619	broad.mit.edu	37	chr17	10399704	10399704	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcctgctcctgatctcagCatccagtgtgctctgcatgg	6	13	9	13	0	2	1	1	1	2	0	6	1	5	1	3	1	4	4	3	1	0	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr17:10399704C>A	ENST00000226207.5	-	34	4913	c.4819G>T	c.(4819-4821)Gct>Tct	p.A1607S	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1607					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGATCTCAGCATCCAGTGTG	0.463																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(4819-4821)Gct>Tct		myosin, heavy chain 1, skeletal muscle, adult							261	228	239					17																	10399704		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399704C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4819G>T	17.37:g.10399704C>A	ENSP00000226207:p.Ala1607Ser					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.A1607S	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			34	4913	-			1607					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4819G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775458	0.31411	.	.	ENSG00000109061	ENST00000226207	T	0.78364	-1.17	5.42	5.42	0.78866	Myosin tail (1);	0.000000	0.42964	U	0.000638	T	0.70343	0.3213	L	0.31420	0.93	0.48975	D	0.999733	B	0.21147	0.052	B	0.26517	0.07	T	0.63532	-0.6616	10	0.20046	T	0.44	.	19.573	0.95428	0.0:1.0:0.0:0.0	.	1607	P12882	MYH1_HUMAN	S	1607	ENSP00000226207:A1607S	ENSP00000226207:A1607S	A	-	1	0	MYH1	10340429	0.986000	0.35501	1.000000	0.80357	0.997000	0.91878	2.721000	0.47260	2.687000	0.91594	0.655000	0.94253	GCT		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		27	95	1	0	1.12875e-08	1	1.27241e-08	27	95					A	10399704	C	A	10399704	3	1	451	1	0	0	0	0	1	0	0	0	10029	710	25	5	1028	5	MYH1	17	10399704	Missense_Mutation	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08		10399704	70795506	38	30909											
SPOP	8405	broad.mit.edu	37	chr17	47696688	47696688	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacagctgaccagtaacaggTaaagtgacaggtaatctttg	14	9	11	7	0	1	2	0	2	1	0	1	3	1	2	1	2	2	4	1	2	4	4			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr17:47696688T>G	ENST00000393328.2	-	5	625	c.260A>C	c.(259-261)tAc>tCc	p.Y87S	SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87S|SPOP_ENST00000393331.3_Missense_Mutation_p.Y87S|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S|SPOP_ENST00000513080.1_5'UTR	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.Y87C(2)|p.Y87S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGTAACAGGTAAAGTGACAG	0.403										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.Y87C(2)|p.Y87S(2)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(259-261)tAc>tCc		speckle-type POZ protein							114	107	109					17																	47696688		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696688T>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.260A>C	17.37:g.47696688T>G	ENSP00000377001:p.Tyr87Ser	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.Y87S|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87S|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S	p.Y87S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	730	-			87			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.260A>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.659213	0.88154	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	M	0.90019	3.08	0.80722	D	1	P	0.46512	0.879	D	0.71870	0.975	D	0.86577	0.1851	10	0.51188	T	0.08	-9.2801	15.4649	0.75390	0.0:0.0:0.0:1.0	.	87	O43791	SPOP_HUMAN	S	87;87;87;87;87;40;87;87;87;87;87	ENSP00000377001:Y87S;ENSP00000377004:Y87S;ENSP00000240327:Y87S;ENSP00000425905:Y87S;ENSP00000420908:Y87S;ENSP00000426986:Y87S;ENSP00000420960:Y87S;ENSP00000426262:Y87S;ENSP00000424119:Y87S;ENSP00000426537:Y87S	ENSP00000240327:Y87S	Y	-	2	0	SPOP	45051687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.864000	0.87037	2.317000	0.78254	0.460000	0.39030	TAC		0.403	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		45	40	0	0	0	1	0	45	40					G	47696688	T	G	47696688	3	3	451	1	0	0	0	0	1	0	0	0	15083	1638	57	5	892	5	SPOP	17	47696688	Missense_Mutation	SNP	T	TCGA-YL-A8HM-01A-11D-A364-08	37296984	47696688	33498522	39	30910											
DNAH17	8632	broad.mit.edu	37	chr17	76435217	76435217	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcagccacgtccagggcGttctcagccaccacctcttg	6	9	9	17	2	3	0	1	0	3	0	5	0	4	0	5	1	3	2	5	1	0	2			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr17:76435217G>A	ENST00000585328.1	-	73	11869	c.11745C>T	c.(11743-11745)aaC>aaT	p.N3915N	DNAH17_ENST00000389840.5_Silent_p.N3906N|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3906	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)			CGTCCAGGGCGTTCTCAGCCA	0.532																																						ENST00000389840.5																			0				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						c.(11716-11718)aaC>aaT		dynein, axonemal, heavy chain 17							76	61	66					17																	76435217		2203	4299	6502	SO:0001819	synonymous_variant	8632							g.chr17:76435217G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.11745C>T	17.37:g.76435217G>A						DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.N3915N	p.N3906N					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		73	11842	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.11718C>T																																																																																					0.532	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		15	16	0	0	0	1	0	15	16					A	76435217	G	A	76435217	2	1	451	1	0	0	0	0	0	0	0	1	4601	1136	40	1		1	DNAH17	17	76435217	Silent	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	28738529	76435217	4759993	40	30911											
ZNF77	58492	broad.mit.edu	37	chr19	2934177	2934177	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtttctctccagtgtgcgtCctcacgtgatctctaaagga	7	13	10	11	2	3	1	1	1	2	0	7	2	5	2	2	2	1	1	2	2	2	2			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr19:2934177C>T	ENST00000314531.4	-	4	1040	c.948G>A	c.(946-948)agG>agA	p.R316R		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	316					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid 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)		CAGTGTGCGTCCTCACGTGAT	0.458																																						ENST00000314531.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(946-948)agG>agA		zinc finger protein 77							166	150	155					19																	2934177		2203	4300	6503	SO:0001819	synonymous_variant	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2934177C>T	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.948G>A	19.37:g.2934177C>T							p.R316R	NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid 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)	4	1040	-			316					Q86XJ3|Q9NPP0	Silent	SNP	ENST00000314531.4	37	c.948G>A	CCDS12099.1																																																																																				0.458	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		46	53	0	0	0	1	0	46	53					T	2934177	C	T	2934177	2	4	451	1	0	0	0	0	0	0	0	1	18139	854	30	3		3	ZNF77	19	2934177	Silent	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08		2934177	56194806	41	30912											
S1PR4	8698	broad.mit.edu	37	chr19	3179719	3179719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccatcatctactccttccGcagcagggaggtgtgcagag	8	8	11	14	1	2	1	1	0	1	1	4	2	4	2	4	2	3	3	4	2	1	2	rs373798403		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr19:3179719G>T	ENST00000246115.3	+	1	984	c.929G>T	c.(928-930)cGc>cTc	p.R310L		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	310					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						TACTCCTTCCGCAGCAGGGAG	0.692																																					GBM(82;318 1638 33279 49708)	ENST00000246115.3																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(928-930)cGc>cTc		sphingosine-1-phosphate receptor 4							65	65	65					19																	3179719		2203	4300	6503	SO:0001583	missense	8698				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	g.chr19:3179719G>T	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3170	protein-coding gene	gene with protein product		603751	"endothelial differentiation, G-protein-coupled receptor 6", "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.929G>T	19.37:g.3179719G>T	ENSP00000246115:p.Arg310Leu						p.R310L	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN			1	984	+			310					D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	c.929G>T	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897332	0.52121	.	.	ENSG00000125910	ENST00000246115	T	0.36699	1.24	4.23	3.19	0.36642	.	0.146689	0.46442	D	0.000294	T	0.25754	0.0627	L	0.29908	0.895	0.45567	D	0.998516	P	0.37276	0.589	B	0.35182	0.197	T	0.06752	-1.0809	10	0.66056	D	0.02	.	10.763	0.46277	0.096:0.0:0.904:0.0	.	310	O95977	S1PR4_HUMAN	L	310	ENSP00000246115:R310L	ENSP00000246115:R310L	R	+	2	0	S1PR4	3130719	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.664000	0.54525	0.781000	0.33589	0.462000	0.41574	CGC		0.692	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		46	31	1	0	2.01807e-28	1	2.50241e-28	46	31					T	3179719	G	T	3179719	3	4	451	1	0	0	0	0	1	0	0	0	13796	1087	38	5	931	5	S1PR4	19	3179719	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	245542	3179719	55949264	42	30913											
VAV1	7409	broad.mit.edu	37	chr19	6854100	6854100	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggtggcgaggggagatCtatggccgggtgaggcaggc	6	6	22	7	2	1	2	0	1	1	1	1	4	1	2	1	9	0	2	1	9	1	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr19:6854100C>A	ENST00000602142.1	+	26	2557	c.2475C>A	c.(2473-2475)atC>atA	p.I825I	VAV1_ENST00000596764.1_Silent_p.I793I|VAV1_ENST00000539284.1_Silent_p.I728I|VAV1_ENST00000304076.2_Silent_p.I803I|VAV1_ENST00000599806.1_Silent_p.I770I	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	825	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GAGGGGAGATCTATGGCCGGG	0.612																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(2407-2409)atC>atA		vav 1 guanine nucleotide exchange factor							77	67	70					19																	6854100		2203	4300	6503	SO:0001819	synonymous_variant	7409				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	g.chr19:6854100C>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2475C>A	19.37:g.6854100C>A						VAV1_ENST00000602142.1_Silent_p.I825I|VAV1_ENST00000599806.1_Silent_p.I770I|VAV1_ENST00000596764.1_Silent_p.I793I|VAV1_ENST00000539284.1_Silent_p.I728I	p.I803I	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			25	2503	+			825			SH3 2.		B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.2409C>A	CCDS12174.1																																																																																				0.612	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			3	40	1	0	6.4e-05	1	6.84138e-05	3	40					A	6854100	C	A	6854100	2	1	451	1	0	0	0	0	0	0	0	1	17128	903	32	5		5	VAV1	19	6854100	Silent	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08	3674381	6854100	52274883	43	30914											
ZNF382	84911	broad.mit.edu	37	chr19	37117962	37117962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtcctcagtgtggaagtgCctttaggaagaagtcatacc	11	11	11	8	0	2	1	2	0	0	1	3	3	3	3	3	2	2	0	3	2	5	3			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr19:37117962C>T	ENST00000292928.2	+	5	1276	c.1163C>T	c.(1162-1164)gCc>gTc	p.A388V	ZNF382_ENST00000423582.1_Missense_Mutation_p.A339V|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000439428.1_Missense_Mutation_p.A387V|ZNF382_ENST00000435416.1_Missense_Mutation_p.A387V	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	388	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGTGGAAGTGCCTTTAGGAAG	0.473																																						ENST00000435416.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34						c.(1159-1161)gCc>gTc		zinc finger protein 382							93	94	94					19																	37117962		2203	4300	6503	SO:0001583	missense	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37117962C>T	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"Zinc fingers, C2H2-type", "-"	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1163C>T	19.37:g.37117962C>T	ENSP00000292928:p.Ala388Val					ZNF382_ENST00000423582.1_Missense_Mutation_p.A339V|ZNF382_ENST00000292928.2_Missense_Mutation_p.A388V|ZNF382_ENST00000439428.1_Missense_Mutation_p.A387V	p.A387V			Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2655	+	Esophageal squamous(110;0.198)		388			Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	c.1160C>T	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164728	0.78339	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39834	N	0.001249	T	0.33904	0.0879	L	0.35341	1.055	0.34401	D	0.695268	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.70487	0.948;0.948;0.969	T	0.45056	-0.9287	10	0.59425	D	0.04	.	14.5487	0.68050	0.0:1.0:0.0:0.0	.	387;387;388	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	V	339;388;387;387	ENSP00000389722:A339V;ENSP00000292928:A388V;ENSP00000407593:A387V;ENSP00000410113:A387V	ENSP00000292928:A388V	A	+	2	0	ZNF382	41809802	0.062000	0.20869	1.000000	0.80357	0.998000	0.95712	0.568000	0.23623	2.375000	0.81037	0.591000	0.81541	GCC		0.473	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		19	37	0	0	0	1	0	19	37					T	37117962	C	T	37117962	3	4	451	1	0	0	0	0	1	0	0	0	17870	739	26	3	1173	3	ZNF382	19	37117962	Missense_Mutation	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08	30263862	37117962	22011021	44	30915											
SFRS16	11129	broad.mit.edu	37	chr19	45561124	45561124	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcggccgaggaggagagcaActcggacgaagatgaggtca	13	3	17	8	4	1	3	1	1	0	2	2	8	1	5	1	5	3	1	1	5	2	0			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr19:45561124A>C	ENST00000221455.3	+	7	679	c.581A>C	c.(580-582)aAc>aCc	p.N194T	CLASRP_ENST00000391953.4_Missense_Mutation_p.N132T|CLASRP_ENST00000544944.2_Missense_Mutation_p.N194T	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	194					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GAGGAGAGCAACTCGGACGAA	0.617																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(580-582)aAc>aCc		CLK4-associating serine/arginine rich protein							176	116	137					19																	45561124		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45561124A>C	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.581A>C	19.37:g.45561124A>C	ENSP00000221455:p.Asn194Thr					CLASRP_ENST00000391953.4_Missense_Mutation_p.N132T|CLASRP_ENST00000221455.3_Missense_Mutation_p.N194T	p.N194T			Q8N2M8	CLASR_HUMAN			6	1273	+			194					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.581A>C	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	A	21.8	4.201106	0.79015	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.46063	1.51;1.5;0.88;1.5	5.48	5.48	0.80851	.	0.000000	0.39475	U	0.001350	T	0.26376	0.0644	N	0.08118	0	0.40877	D	0.983968	P;P;P	0.43287	0.73;0.802;0.702	B;B;B	0.41236	0.351;0.33;0.116	T	0.15235	-1.0444	10	0.39692	T	0.17	-40.7112	13.5244	0.61586	1.0:0.0:0.0:0.0	.	132;194;194	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	T	194;194;132;194	ENSP00000221455:N194T;ENSP00000375814:N194T;ENSP00000375815:N132T;ENSP00000438702:N194T	ENSP00000221455:N194T	N	+	2	0	CLASRP	50252964	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.816000	0.75247	2.086000	0.62901	0.455000	0.32223	AAC		0.617	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		12	13	0	0	0	1	0	12	13					C	45561124	A	C	45561124	3	2	451	1	0	0	0	0	1	0	0	0	14172	43	2	5	603	5	SFRS16	19	45561124	Missense_Mutation	SNP	A	TCGA-YL-A8HM-01A-11D-A364-08	8443162	45561124	13567859	45	30916											
PAK7	57144	broad.mit.edu	37	chr20	9546787	9546787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagccccagctgggcggcGggtaggtgctggatgagagg	7	5	21	8	2	0	1	0	1	0	1	0	4	0	3	2	7	3	3	2	7	1	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr20:9546787G>A	ENST00000378429.3	-	6	1781	c.1235C>T	c.(1234-1236)cCg>cTg	p.P412L	PAK7_ENST00000378423.1_Missense_Mutation_p.P412L|PAK7_ENST00000353224.5_Missense_Mutation_p.P412L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	412	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCTGGGCGGCGGGTAGGTGCT	0.647																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1234-1236)cCg>cTg		p21 protein (Cdc42/Rac)-activated kinase 7							63	64	64					20																	9546787		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546787G>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1235C>T	20.37:g.9546787G>A	ENSP00000367686:p.Pro412Leu					PAK7_ENST00000353224.5_Missense_Mutation_p.P412L|PAK7_ENST00000378423.1_Missense_Mutation_p.P412L	p.P412L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1781	-			412			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1235C>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116879	0.94385	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.28666	1.6;1.6;1.6	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	P;P	0.62298	0.9;0.9	T	0.13629	-1.0502	9	.	.	.	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	412;412	B0AZM9;Q9P286	.;PAK7_HUMAN	L	412;412;412;360	ENSP00000367686:P412L;ENSP00000322957:P412L;ENSP00000367679:P412L	.	P	-	2	0	PAK7	9494787	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	9.230000	0.95299	2.807000	0.96579	0.591000	0.81541	CCG		0.647	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			16	39	0	0	0	1	0	16	39					A	9546787	G	A	9546787	3	1	451	1	0	0	0	0	1	0	0	0	11405	1116	39	2	948	2	PAK7	20	9546787	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08		9546787	53478733	46	30917											
KIAA1755	85449	broad.mit.edu	37	chr20	36855562	36855562	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtccccctcacctggacGtcaggtaatgtctgcagctg	7	10	11	13	1	3	1	2	1	1	0	4	2	4	2	3	2	2	3	3	2	1	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr20:36855562G>A	ENST00000279024.4	-	7	2317	c.2046C>T	c.(2044-2046)gaC>gaT	p.D682D		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	682										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)				TCACCTGGACGTCAGGTAATG	0.587																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(2044-2046)gaC>gaT		KIAA1755							38	37	37					20																	36855562		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36855562G>A	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2046C>T	20.37:g.36855562G>A							p.D682D	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			7	2317	-		Myeloproliferative disorder(115;0.00874)	682					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.2046C>T	CCDS33467.1																																																																																				0.587	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		6	16	0	0	0	1	0	6	16					A	36855562	G	A	36855562	2	1	451	1	0	0	0	0	0	0	0	1	8257	1136	40	1		1	KIAA1755	20	36855562	Silent	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	27308775	36855562	26169958	47	30918											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-																															ctggttgggtttgcacttcaTcctcgaggcagcctcctcga																								rs78182391		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			3	4						3	4	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	451	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-YL-A8HM-01A-11D-A364-08		51239296	104031264	48	30919											
TRPC5	7224	broad.mit.edu	37	chrX	111095551	111095551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cataggccacaatcttcaggGaaatagttgccaggtagagg	13	8	12	8	0	2	1	1	0	1	1	2	2	2	2	2	4	1	2	2	4	5	5			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:111095551G>A	ENST00000262839.2	-	5	2270	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	451					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AATCTTCAGGGAAATAGTTGC	0.418																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1351-1353)tCc>tTc		transient receptor potential cation channel, subfamily C, member 5							142	119	127					X																	111095551		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111095551G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1352C>T	X.37:g.111095551G>A	ENSP00000262839:p.Ser451Phe						p.S451F	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			5	2270	-			451					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1352C>T	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949262	0.92660	.	.	ENSG00000072315	ENST00000262839	D	0.98264	-4.83	5.84	5.84	0.93424	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.987;0.996	D	0.99790	1.1031	10	0.51188	T	0.08	-2.1385	19.057	0.93069	0.0:0.0:1.0:0.0	.	452;451	Q59G51;Q9UL62	.;TRPC5_HUMAN	F	451	ENSP00000262839:S451F	ENSP00000262839:S451F	S	-	2	0	TRPC5	110982207	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.814000	0.99346	2.449000	0.82847	0.600000	0.82982	TCC		0.418	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		43	7	0	0	0	1	0	43	7					A	111095551	G	A	111095551	3	1	451	1	0	0	0	0	1	0	0	0	16579	1174	41	3	1597	3	TRPC5	23	111095551	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	59856255	111095551	44175009	49	30920											
OCRL	4952	broad.mit.edu	37	chrX	128679013	128679013	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccacttcagatgtgttcaAggtactagctttaattcctt	10	15	7	9	0	2	1	2	0	0	1	3	1	3	1	2	1	3	3	2	1	4	8			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:128679013A>C	ENST00000371113.4	+	3	363	c.198A>C	c.(196-198)caA>caC	p.Q66H	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Splice_Site_p.Q66H	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	66	PH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GATGTGTTCAAGGTACTAGCT	0.333																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.e3+1		oculocerebrorenal syndrome of Lowe							151	132	139					X																	128679013		2203	4300	6503	SO:0001630	splice_region_variant	4952				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	g.chrX:128679013A>C	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.199+1A>C	X.37:g.128679013A>C						OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Splice_Site_p.Q66_splice	p.Q66_splice	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			3	363	+			66					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Splice_Site	SNP	ENST00000371113.4	37	c.199_splice	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027400	0.75390	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94537	-3.45;-3.45	5.36	5.36	0.76844	.	0.145098	0.48767	D	0.000169	D	0.94000	0.8078	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.973	D;P	0.63113	0.911;0.751	D	0.93942	0.7224	10	0.56958	D	0.05	.	10.6368	0.45569	1.0:0.0:0.0:0.0	.	66;66	Q01968-2;Q01968	.;OCRL_HUMAN	H	66	ENSP00000360154:Q66H;ENSP00000349635:Q66H	ENSP00000349635:Q66H	Q	+	3	2	OCRL	128506694	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.786000	0.62425	1.780000	0.52325	0.417000	0.27973	CAA		0.333	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	Missense_Mutation	23	2	0	0	0	1	0	23	2					C	128679013	A	C	128679013	5	2	451	1	0	0	0	0	0	0	1	0	10823	86	3	5	208	5	OCRL	23	128679013	Splice_Site	SNP	A	TCGA-YL-A8HM-01A-11D-A364-08	17583462	128679013	26591547	50	30921											
F8	2157	broad.mit.edu	37	chrX	154158843	154158844	+	Frame_Shift_Ins	INS	-	-	T																															ttagcctcaaagctgtagcaINStttttgtccataagcattct																										TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:154158843_154158844insT	ENST00000360256.4	-	14	3421_3422	c.3221_3222insA	c.(3220-3222)aatfs	p.N1074fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1074	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			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)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGCTGTAGCATTTTTGTCCAT	0.356																																						ENST00000360256.4																			0				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						c.(3220-3222)agcfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)																																			SO:0001589	frameshift_variant	2157				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	g.chrX:154158843_154158844insT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3222dupA	X.37:g.154158848_154158848dupT	ENSP00000353393:p.Asn1074fs						p.S1074fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	3421_3422	-	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)		1074			B.		Q14286|Q5HY69	Frame_Shift_Ins	INS	ENST00000360256.4	37	c.3221_3222insA	CCDS35457.1																																																																																				0.356	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			42	27						42	27	---	---	---	---	T	154158844	-	T	154158843	7	5	451	1	0	1	1	0	0	0	0	0	5350	214	8	0	3913	0	F8	23	154158843	Frame_Shift_Ins	INS	-	TCGA-YL-A8HM-01A-11D-A364-08	25479830	154158843	1111717	51	30922											
RIMS3	9783	broad.mit.edu	37	chr1	41098808	41098808	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagcccatccaggaaatcGctgaactggctttcagcccc	9	7	8	17	1	1	1	1	1	0	0	3	2	2	2	5	2	3	2	5	2	2	1	rs371406864		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr1:41098808G>A	ENST00000372684.3	-	5	874	c.405C>T	c.(403-405)agC>agT	p.S135S	RIMS3_ENST00000372683.1_Silent_p.S135S	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	135					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CCAGGAAATCGCTGAACTGGC	0.587																																						ENST00000372684.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(403-405)agC>agT		regulating synaptic membrane exocytosis 3		G		0,4406		0,0,2203	122	115	117		405	-3	1	1		117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RIMS3	NM_014747.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		135/309	41098808	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9783				neurotransmitter transport	cell junction|synapse		g.chr1:41098808G>A	BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.405C>T	1.37:g.41098808G>A						RIMS3_ENST00000372683.1_Silent_p.S135S	p.S135S	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)		5	874	-	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	135					D3DPV8|Q92511|X5D7U7	Silent	SNP	ENST00000372684.3	37	c.405C>T	CCDS30687.1																																																																																				0.587	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747		7	65	0	0	0	1	0	7	65					A	41098808	G	A	41098808	2	1	452	1	0	0	0	0	0	0	0	1	13369	1078	38	1		1	RIMS3	1	41098808	Silent	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08		41098808	208151813	1	30923											
PARS2	25973	broad.mit.edu	37	chr1	55224300	55224300	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcacttggtacagcaggaAgggaagctgcttgtaggaca	11	9	14	7	0	1	0	1	0	0	0	1	3	1	3	0	4	4	5	0	4	4	4			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr1:55224300A>G	ENST00000371279.3	-	2	617	c.535T>C	c.(535-537)Ttc>Ctc	p.F179L		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	179					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TACAGCAGGAAGGGAAGCTGC	0.512																																						ENST00000371279.3																			0				breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15						c.(535-537)Ttc>Ctc		prolyl-tRNA synthetase 2, mitochondrial (putative)	L-Proline(DB00172)						143	143	143					1																	55224300		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224300A>G	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"Aminoacyl tRNA synthetases / Class II"	30563	protein-coding gene	gene with protein product	"proline tRNA ligase 2, mitochondrial (putative)"	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.535T>C	1.37:g.55224300A>G	ENSP00000360327:p.Phe179Leu						p.F179L	NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN			2	617	-			179					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.535T>C	CCDS597.1	.	.	.	.	.	.	.	.	.	.	A	1.909	-0.451122	0.04572	.	.	ENSG00000162396	ENST00000371279	T	0.66460	-0.21	5.15	1.65	0.23941	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.343534	0.27946	N	0.017212	T	0.16171	0.0389	N	0.00055	-2.37	0.25650	N	0.986109	B	0.02656	0.0	B	0.01281	0.0	T	0.43376	-0.9395	10	0.02654	T	1	-4.7859	3.4917	0.07639	0.4165:0.0:0.3961:0.1874	.	179	Q7L3T8	SYPM_HUMAN	L	179	ENSP00000360327:F179L	ENSP00000360327:F179L	F	-	1	0	PARS2	54996888	0.354000	0.24912	0.299000	0.25016	0.860000	0.49131	0.833000	0.27504	0.308000	0.22923	-0.371000	0.07208	TTC		0.512	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		4	91	0	0	0	1	0	4	91					G	55224300	A	G	55224300	3	3	452	1	0	0	0	0	1	0	0	0	11467	72	3	4	896	4	PARS2	1	55224300	Missense_Mutation	SNP	A	TCGA-YL-A8HO-01A-11D-A364-08	14125492	55224300	194026321	2	30924											
GBP4	115361	broad.mit.edu	37	chr1	89659075	89659075	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccagggcaaagatccaCgagtcattcttagggttact	12	9	10	10	1	2	1	1	0	1	1	3	2	3	1	2	2	2	2	2	2	3	3			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr1:89659075C>T	ENST00000355754.6	-	4	481	c.384G>A	c.(382-384)tcG>tcA	p.S128S		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	128	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CAAAGATCCACGAGTCATTCT	0.433																																						ENST00000355754.6																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33						c.(382-384)tcG>tcA		guanylate binding protein 4							121	120	120					1																	89659075		2203	4300	6503	SO:0001819	synonymous_variant	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89659075C>T	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.384G>A	1.37:g.89659075C>T							p.S128S	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	4	481	-			128					B2R630|Q05D63|Q6NSL0|Q86T99	Silent	SNP	ENST00000355754.6	37	c.384G>A	CCDS721.1																																																																																				0.433	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		13	25	0	0	0	1	0	13	25					T	89659075	C	T	89659075	2	4	452	1	0	0	0	0	0	0	0	1	6276	523	19	1		1	GBP4	1	89659075	Silent	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08	34434775	89659075	159591546	3	30925											
EVI5	7813	broad.mit.edu	37	chr1	92979231	92979231	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagacagtggttgaataCgactctcttcttctcggggg	7	12	13	9	2	4	2	1	1	3	1	6	3	4	2	0	4	1	1	0	4	2	4	rs200686753		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr1:92979231C>T	ENST00000370331.1	-	18	2424	c.2415G>A	c.(2413-2415)tcG>tcA	p.S805S	EVI5_ENST00000543509.1_Silent_p.S816S|EVI5_ENST00000540033.1_Silent_p.S805S	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	805	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TGGTTGAATACGACTCTCTTC	0.443																																						ENST00000370331.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38						c.(2413-2415)tcG>tcA		ecotropic viral integration site 5							154	155	155					1																	92979231		2203	4300	6503	SO:0001819	synonymous_variant	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:92979231C>T	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"neuroblastoma stage 4S gene"	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.2415G>A	1.37:g.92979231C>T						EVI5_ENST00000543509.1_Silent_p.S816S|EVI5_ENST00000540033.1_Silent_p.S805S	p.S805S	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN		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)	18	2424	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	805			Interaction with AURKB and INCENP.|Targeting to the centrosomes.		A6NKX8|B9A6J0|Q9H1Y9	Silent	SNP	ENST00000370331.1	37	c.2415G>A	CCDS30774.1																																																																																				0.443	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		6	113	0	0	0	1	0	6	113					T	92979231	C	T	92979231	2	4	452	1	0	0	0	0	0	0	0	1	5289	523	19	1		1	EVI5	1	92979231	Silent	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08	3320156	92979231	156271390	4	30926											
NCF2	4688	broad.mit.edu	37	chr1	183532621	183532621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttagacaccatgtcccGgacctggctgtaggggagcc	7	10	12	12	1	1	1	0	0	1	1	2	3	2	3	4	4	1	2	4	4	2	3			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr1:183532621G>A	ENST00000367535.3	-	12	1377	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	NCF2_ENST00000413720.1_Missense_Mutation_p.R331W|NCF2_ENST00000418089.1_Missense_Mutation_p.R295W|NCF2_ENST00000367536.1_Missense_Mutation_p.R376W|NCF2_ENST00000469280.1_5'UTR	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	376	OPR.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	ACCATGTCCCGGACCTGGCTG	0.567																																						ENST00000413720.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(991-993)Cgg>Tgg		neutrophil cytosolic factor 2							113	114	113					1																	183532621		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183532621G>A	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1126C>T	1.37:g.183532621G>A	ENSP00000356505:p.Arg376Trp					NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000367536.1_Missense_Mutation_p.R376W|NCF2_ENST00000418089.1_Missense_Mutation_p.R295W|NCF2_ENST00000367535.3_Missense_Mutation_p.R376W	p.R331W	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN			11	1265	-			376					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.991C>T	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175984	0.38413	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000420553;ENST00000419402	T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71	5.47	3.26	0.37387	Phox/Bem1p (2);	0.448192	0.23563	N	0.046831	T	0.20618	0.0496	L	0.44542	1.39	0.09310	N	1	B;B;B	0.18310	0.009;0.027;0.002	B;B;B	0.14578	0.008;0.011;0.007	T	0.13522	-1.0506	10	0.37606	T	0.19	0.9419	9.8752	0.41200	0.2379:0.0:0.7621:0.0	.	295;331;376	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	W	376;448;331;295;376;27;115	ENSP00000356506:R376W;ENSP00000399294:R331W;ENSP00000407217:R295W;ENSP00000356505:R376W;ENSP00000397228:R27W;ENSP00000406198:R115W	ENSP00000356505:R376W	R	-	1	2	NCF2	181799244	0.144000	0.22641	0.060000	0.19600	0.964000	0.63967	0.551000	0.23361	1.321000	0.45227	0.650000	0.86243	CGG		0.567	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		4	89	0	0	0	1	0	4	89					A	183532621	G	A	183532621	3	1	452	1	0	0	0	0	1	0	0	0	10217	1115	39	2	470	2	NCF2	1	183532621	Missense_Mutation	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08	90553390	183532621	65718000	5	30927											
CACNA1S	779	broad.mit.edu	37	chr1	201046246	201046246	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccaggttgctcagcgaCgtccaatatctgaaggaaga	12	7	11	11	2	2	2	1	1	1	1	3	4	3	3	3	2	2	2	3	2	4	2	rs143999390		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr1:201046246C>T	ENST00000362061.3	-	12	1855	c.1629G>A	c.(1627-1629)acG>acA	p.T543T	CACNA1S_ENST00000367338.3_Silent_p.T543T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	543					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			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					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCTCAGCGACGTCCAATATC	0.602																																						ENST00000362061.3																			0				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						c.(1627-1629)acG>acA		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						79	73	75					1																	201046246		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046246C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1629G>A	1.37:g.201046246C>T						CACNA1S_ENST00000367338.3_Silent_p.T543T	p.T543T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			12	1855	-			543					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.1629G>A	CCDS1407.1																																																																																				0.602	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		5	22	0	0	0	1	0	5	22					T	201046246	C	T	201046246	2	4	452	1	0	0	0	0	0	0	0	1	2547	523	19	1		1	CACNA1S	1	201046246	Silent	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08	17513625	201046246	48204375	6	30928											
USP34	9736	broad.mit.edu	37	chr2	61456734	61456734	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcatgcacaggtctcagcCtctgaatcacatggatacac	12	8	9	12	0	3	1	2	1	2	0	4	3	3	2	1	2	4	2	1	2	2	1			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:61456734C>G	ENST00000398571.2	-	59	7224	c.7148G>C	c.(7147-7149)aGg>aCg	p.R2383T		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2383					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			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)			AGGTCTCAGCCTCTGAATCAC	0.388																																						ENST00000398571.2																			0				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						c.(7147-7149)aGg>aCg		ubiquitin specific peptidase 34							215	207	210					2																	61456734		1933	4145	6078	SO:0001583	missense	9736				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	g.chr2:61456734C>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.7148G>C	2.37:g.61456734C>G	ENSP00000381577:p.Arg2383Thr						p.R2383T	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		59	7224	-			2383					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.7148G>C	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.52|16.52	3.147399|3.147399	0.57151|0.57151	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	.|T;T	.|0.65364	.|-0.15;3.77	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Armadillo-type fold (1);	.|0.056520	.|0.85682	.|D	.|0.000000	T|T	0.63827|0.63827	0.2544|0.2544	L|L	0.42245|0.42245	1.32|1.32	0.51482|0.51482	D|D	0.999928|0.999928	.|B	.|0.25351	.|0.124	.|B	.|0.36418	.|0.224	T|T	0.59048|0.59048	-0.7527|-0.7527	5|10	.|0.44086	.|T	.|0.13	.|.	20.156|20.156	0.98114|0.98114	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2383	.|Q70CQ2	.|UBP34_HUMAN	D|T	142|2231;2231;2383;661	.|ENSP00000381577:R2383T;ENSP00000410559:R661T	.|ENSP00000263989:R2231T	E|R	-|-	3|2	2|0	USP34|USP34	61310238|61310238	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.992000|0.992000	0.81027|0.81027	6.013000|6.013000	0.70776|0.70776	2.843000|2.843000	0.97960|0.97960	0.603000|0.603000	0.83216|0.83216	GAG|AGG		0.388	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			5	141	0	0	0	1	0	5	141					G	61456734	C	G	61456734	3	3	452	1	0	0	0	0	1	0	0	0	17062	681	24	5	3580	5	USP34	2	61456734	Missense_Mutation	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08		61456734	181742639	7	30929											
CKAP2L	150468	broad.mit.edu	37	chr2	113514387	113514387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgttaagatatcgagcaaGttctctttgtttgtttcttt	7	21	7	6	1	3	1	0	0	3	1	5	2	3	1	0	0	1	5	0	0	3	7			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:113514387G>T	ENST00000302450.6	-	4	639	c.561C>A	c.(559-561)aaC>aaA	p.N187K	CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000541405.1_Missense_Mutation_p.N22K	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	187						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TATCGAGCAAGTTCTCTTTGT	0.323																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(64-66)aaC>aaA		cytoskeleton associated protein 2-like							90	95	93					2																	113514387		2202	4300	6502	SO:0001583	missense	150468					centrosome		g.chr2:113514387G>T	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.561C>A	2.37:g.113514387G>T	ENSP00000305204:p.Asn187Lys					CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000302450.6_Missense_Mutation_p.N187K	p.N22K			Q8IYA6	CKP2L_HUMAN			4	589	-			187					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.66C>A	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929637	0.52759	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.24908	1.83;2.34	5.0	5.0	0.66597	.	0.161695	0.42294	D	0.000728	T	0.43500	0.1250	M	0.73598	2.24	0.37759	D	0.926253	D	0.57257	0.979	P	0.54026	0.74	T	0.51880	-0.8649	10	0.72032	D	0.01	-17.4544	14.5097	0.67776	0.0:0.0:1.0:0.0	.	187	Q8IYA6	CKP2L_HUMAN	K	22;187	ENSP00000438763:N22K;ENSP00000305204:N187K	ENSP00000305204:N187K	N	-	3	2	CKAP2L	113230858	0.866000	0.29940	0.990000	0.47175	0.141000	0.21300	0.972000	0.29409	2.705000	0.92388	0.585000	0.79938	AAC		0.323	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		5	30	1	0	3.59834e-05	1	4.12309e-05	5	30					T	113514387	G	T	113514387	3	4	452	1	0	0	0	0	1	0	0	0	3443	1020	36	5	1700	5	CKAP2L	2	113514387	Missense_Mutation	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08	52057653	113514387	129684986	8	30930											
EPB41L5	57669	broad.mit.edu	37	chr2	120847945	120847945	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagaacaggaacatacatTtgtctttagactggatcatc	15	11	7	8	0	2	2	1	0	1	2	3	4	2	4	0	2	3	0	0	2	5	4			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:120847945T>G	ENST00000263713.5	+	12	1110	c.896T>G	c.(895-897)tTt>tGt	p.F299C	EPB41L5_ENST00000331393.4_Missense_Mutation_p.F299C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.F299C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.F299C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.F299C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	299	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GAACATACATTTGTCTTTAGA	0.383																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(895-897)tTt>tGt		erythrocyte membrane protein band 4.1 like 5							117	114	115					2																	120847945		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120847945T>G	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.896T>G	2.37:g.120847945T>G	ENSP00000263713:p.Phe299Cys					EPB41L5_ENST00000331393.4_Missense_Mutation_p.F299C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.F299C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.F299C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.F299C	p.F299C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			12	1110	+			299			FERM.		Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.896T>G	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.170341	0.78452	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.41	5.41	0.78517	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.95230	0.8453	M	0.88512	2.96	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.987;1.0;0.993;1.0	D	0.96045	0.9027	10	0.87932	D	0	.	15.7378	0.77859	0.0:0.0:0.0:1.0	.	299;299;299;299	Q9HCM4-3;Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;.;E41L5_HUMAN	C	299	ENSP00000263713:F299C;ENSP00000393856:F299C;ENSP00000329687:F299C;ENSP00000393722:F299C;ENSP00000390439:F299C	ENSP00000263713:F299C	F	+	2	0	EPB41L5	120564415	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.862000	0.87013	2.184000	0.69523	0.477000	0.44152	TTT		0.383	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		20	56	0	0	0	1	0	20	56					G	120847945	T	G	120847945	3	3	452	1	0	0	0	0	1	0	0	0	5157	1841	64	5	938	5	EPB41L5	2	120847945	Missense_Mutation	SNP	T	TCGA-YL-A8HO-01A-11D-A364-08	7333558	120847945	122351428	9	30931											
FZD7	8324	broad.mit.edu	37	chr2	202899587	202899587	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcccaacctgctgggcCacacgaaccaagaggacgcg	10	4	11	16	3	0	1	0	0	0	1	1	3	1	2	5	2	4	1	5	2	3	0			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:202899587C>G	ENST00000286201.1	+	1	278	c.217C>G	c.(217-219)Cac>Gac	p.H73D	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	73	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CCTGCTGGGCCACACGAACCA	0.612																																						ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(217-219)Cac>Gac		frizzled family receptor 7							127	111	116					2																	202899587		2203	4300	6503	SO:0001583	missense	8324				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	g.chr2:202899587C>G	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.217C>G	2.37:g.202899587C>G	ENSP00000286201:p.His73Asp						p.H73D	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	278	+			73			FZ.		O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.217C>G	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308277	0.60305	.	.	ENSG00000155760	ENST00000286201	D	0.81996	-1.56	5.0	4.12	0.48240	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.92896	0.7740	M	0.93678	3.445	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.94182	0.7433	10	0.62326	D	0.03	.	14.7142	0.69254	0.1463:0.8537:0.0:0.0	.	73	O75084	FZD7_HUMAN	D	73	ENSP00000286201:H73D	ENSP00000286201:H73D	H	+	1	0	FZD7	202607832	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.072000	0.71238	1.077000	0.40990	0.313000	0.20887	CAC		0.612	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		9	23	0	0	0	1	0	9	23					G	202899587	C	G	202899587	3	3	452	1	0	0	0	0	1	0	0	0	6135	594	21	5	219	5	FZD7	2	202899587	Missense_Mutation	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08	82051642	202899587	40299786	10	30932											
LRRN1	57633	broad.mit.edu	37	chr3	3887996	3887996	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcaaacttaaaatggtcGtctgccaccatgaagattga	14	10	8	9	2	2	3	1	2	1	1	3	3	2	3	2	1	2	0	2	1	4	2			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr3:3887996G>T	ENST00000319331.3	+	2	2432	c.1671G>T	c.(1669-1671)tcG>tcT	p.S557S	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	557	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TAAAATGGTCGTCTGCCACCA	0.443																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(1669-1671)tcG>tcT		leucine rich repeat neuronal 1							202	205	204					3																	3887996		2203	4300	6503	SO:0001819	synonymous_variant	57633					integral to membrane		g.chr3:3887996G>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1671G>T	3.37:g.3887996G>T						SUMF1_ENST00000534863.1_Intron	p.S557S	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2432	+			557			Fibronectin type-III.		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	c.1671G>T	CCDS33685.1																																																																																				0.443	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		9	191	1	0	1.58986e-06	1	1.86048e-06	9	191					T	3887996	G	T	3887996	2	4	452	1	0	0	0	0	0	0	0	1	9034	1132	40	5		5	LRRN1	3	3887996	Silent	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08		3887996	194134434	11	30933											
MST1R	4486	broad.mit.edu	37	chr3	49932714	49932714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagctggatggactctttccGcagcagtggcacacaggatt	9	10	12	10	1	1	0	0	0	1	0	2	3	2	3	1	4	2	4	1	4	1	3			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr3:49932714G>A	ENST00000296474.3	-	14	3184	c.3157C>T	c.(3157-3159)Cgg>Tgg	p.R1053W	MST1R_ENST00000344206.4_Missense_Mutation_p.R1004W	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1053					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			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)		GACTCTTTCCGCAGCAGTGGC	0.567																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(3157-3159)Cgg>Tgg		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							150	144	146					3																	49932714		2203	4300	6503	SO:0001583	missense	4486				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	g.chr3:49932714G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3157C>T	3.37:g.49932714G>A	ENSP00000296474:p.Arg1053Trp					MST1R_ENST00000344206.4_Missense_Mutation_p.R1004W	p.R1053W	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	14	3184	-			1053					B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.3157C>T	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.332890	0.41297	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.10288	2.89;2.89	5.84	1.71	0.24356	.	0.615148	0.17959	N	0.156241	T	0.18173	0.0436	M	0.61703	1.905	0.09310	N	1	D	0.71674	0.998	P	0.53185	0.72	T	0.04065	-1.0980	10	0.62326	D	0.03	-2.2724	8.0852	0.30769	0.1508:0.0:0.6705:0.1787	.	1053	Q04912	RON_HUMAN	W	1053;1004	ENSP00000296474:R1053W;ENSP00000341325:R1004W	ENSP00000296474:R1053W	R	-	1	2	MST1R	49907718	0.000000	0.05858	0.363000	0.25875	0.029000	0.11900	0.091000	0.15046	0.826000	0.34661	-0.215000	0.12644	CGG		0.567	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			4	98	0	0	0	1	0	4	98					A	49932714	G	A	49932714	3	1	452	1	0	0	0	0	1	0	0	0	9891	1086	38	1	1073	1	MST1R	3	49932714	Missense_Mutation	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08	46044718	49932714	148089716	12	30934											
KPNA1	3836	broad.mit.edu	37	chr3	122180094	122180094	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtacaattctcttttcGtttgaggaactccacaaacc	11	13	6	11	1	1	1	0	1	1	0	4	2	2	2	2	1	3	2	2	1	4	5			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr3:122180094G>A	ENST00000344337.6	-	5	585	c.409C>T	c.(409-411)Cga>Tga	p.R137*	KPNA1_ENST00000466923.1_5'Flank	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	137					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TTCTCTTTTCGTTTGAGGAAC	0.333																																					Melanoma(12;340 801 11196 19797)	ENST00000344337.6																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21						c.(409-411)Cga>Tga		karyopherin alpha 1 (importin alpha 5)							71	70	71					3																	122180094		2203	4300	6503	SO:0001587	stop_gained	3836				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	g.chr3:122180094G>A	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"Importins", "Armadillo repeat containing"	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.409C>T	3.37:g.122180094G>A	ENSP00000343701:p.Arg137*						p.R137*	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	5	585	-			137					D3DN93|Q6IBQ9|Q9BQ56	Nonsense_Mutation	SNP	ENST00000344337.6	37	c.409C>T	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	G	37	6.437515	0.97568	.	.	ENSG00000114030	ENST00000344337;ENST00000465882;ENST00000482287;ENST00000476916;ENST00000493510	.	.	.	5.2	4.3	0.51218	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.014	14.4618	0.67456	0.0:0.0:0.8519:0.1481	.	.	.	.	X	137	.	ENSP00000343701:R137X	R	-	1	2	KPNA1	123662784	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.623000	0.46435	1.515000	0.48885	0.655000	0.94253	CGA		0.333	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		22	56	0	0	0	1	0	22	56					A	122180094	G	A	122180094	4	1	452	1	0	0	0	0	0	1	0	0	8429	1153	40	1	1247	1	KPNA1	3	122180094	Nonsense_Mutation	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08	72247380	122180094	75842336	13	30935											
APBB2	323	broad.mit.edu	37	chr4	40829194	40829194	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggccctttcctgtaaggAgctgcaggccagcgctttgg	6	11	13	11	1	0	0	0	0	0	0	1	1	1	1	3	4	3	4	3	4	1	4			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr4:40829194A>G	ENST00000295974.8	-	14	2313	c.1684T>C	c.(1684-1686)Tcc>Ccc	p.S562P	RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000502841.1_Missense_Mutation_p.S14P|APBB2_ENST00000543538.1_Missense_Mutation_p.S14P|Y_RNA_ENST00000384466.1_RNA|APBB2_ENST00000504305.1_Missense_Mutation_p.S14P|APBB2_ENST00000506352.1_Missense_Mutation_p.S541P|APBB2_ENST00000508593.1_Missense_Mutation_p.S563P|APBB2_ENST00000513140.1_Missense_Mutation_p.S541P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	562	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TCCTGTAAGGAGCTGCAGGCC	0.532																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(1684-1686)Tcc>Ccc		amyloid beta (A4) precursor protein-binding, family B, member 2							167	167	167					4																	40829194		2022	4183	6205	SO:0001583	missense	323				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	g.chr4:40829194A>G	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1684T>C	4.37:g.40829194A>G	ENSP00000295974:p.Ser562Pro					APBB2_ENST00000506352.1_Missense_Mutation_p.S541P|APBB2_ENST00000504305.1_Missense_Mutation_p.S14P|APBB2_ENST00000543538.1_Missense_Mutation_p.S14P|APBB2_ENST00000502841.1_Missense_Mutation_p.S14P|APBB2_ENST00000513140.1_Missense_Mutation_p.S541P|APBB2_ENST00000508593.1_Missense_Mutation_p.S563P	p.S562P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			14	2313	-			562			PID 1.		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.1684T>C	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.52|18.52	3.642029|3.642029	0.67244|0.67244	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000513611|ENST00000295974;ENST00000316212;ENST00000543538;ENST00000513140;ENST00000508593;ENST00000502841;ENST00000506352;ENST00000504305;ENST00000512510;ENST00000510670;ENST00000514920;ENST00000513516	.|T;T;T;T;T;T;T;T	.|0.49432	.|2.31;0.8;2.36;2.31;0.8;2.35;0.8;0.78	5.89|5.89	3.33|3.33	0.38152|0.38152	.|.	.|0.167857	.|0.56097	.|D	.|0.000037	T|T	0.36771|0.36771	0.0979|0.0979	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999994|0.999994	.|P;P;P	.|0.47253	.|0.822;0.889;0.892	.|P;P;P	.|0.51170	.|0.46;0.661;0.46	T|T	0.11518|0.11518	-1.0584|-1.0584	5|10	.|0.30854	.|T	.|0.27	-13.591|-13.591	12.8694|12.8694	0.57957|0.57957	0.7441:0.2559:0.0:0.0|0.7441:0.2559:0.0:0.0	.|.	.|563;541;562	.|E9PG87;Q92870-2;Q92870	.|.;.;APBB2_HUMAN	P|P	531|562;561;14;541;563;14;541;14;76;14;14;14	.|ENSP00000295974:S562P;ENSP00000439357:S14P;ENSP00000426018:S541P;ENSP00000427211:S563P;ENSP00000425802:S14P;ENSP00000421539:S541P;ENSP00000423765:S14P;ENSP00000426429:S76P	.|ENSP00000295974:S562P	L|S	-|-	2|1	0|0	APBB2|APBB2	40523951|40523951	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.777000|0.777000	0.43975|0.43975	5.668000|5.668000	0.68074|0.68074	0.423000|0.423000	0.26033|0.26033	0.460000|0.460000	0.39030|0.39030	CTC|TCC		0.532	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		7	84	0	0	0	1	0	7	84					G	40829194	A	G	40829194	3	3	452	1	0	0	0	0	1	0	0	0	761	304	11	4	612	4	APBB2	4	40829194	Missense_Mutation	SNP	A	TCGA-YL-A8HO-01A-11D-A364-08		40829194	150325082	14	30936											
MARCH1	55016	broad.mit.edu	37	chr4	164506987	164506987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgagctctttatccactGgtggaggcaggactggtgga	8	11	14	8	0	2	1	0	1	2	0	3	4	3	4	1	6	1	2	1	6	1	2			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr4:164506987G>T	ENST00000503008.1	-	6	1313	c.337C>A	c.(337-339)Cag>Aag	p.Q113K	MARCH1_ENST00000339875.5_Missense_Mutation_p.Q96K|MARCH1_ENST00000274056.7_Missense_Mutation_p.Q113K|MARCH1_ENST00000514618.1_Missense_Mutation_p.Q369K	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	113					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTTATCCACTGGTGGAGGCAG	0.537																																						ENST00000503008.1																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(337-339)Cag>Aag		membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase							106	96	100					4																	164506987		2203	4300	6503	SO:0001583	missense	55016				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	g.chr4:164506987G>T	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26077	protein-coding gene	gene with protein product		613331	"membrane-associated ring finger (C3HC4) 1"			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.337C>A	4.37:g.164506987G>T	ENSP00000427223:p.Gln113Lys					MARCH1_ENST00000339875.5_Missense_Mutation_p.Q96K|MARCH1_ENST00000514618.1_Missense_Mutation_p.Q369K|MARCH1_ENST00000274056.7_Missense_Mutation_p.Q113K	p.Q113K	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN			6	1313	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	113					D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.337C>A	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167347	0.57476	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875;ENST00000507270	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.27	4.44	0.53790	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.173564	0.40385	N	0.001103	T	0.32102	0.0818	N	0.25485	0.75	0.58432	D	0.999992	P;B	0.42123	0.771;0.34	B;B	0.41135	0.348;0.155	T	0.04413	-1.0953	10	0.25106	T	0.35	-26.415	14.1435	0.65334	0.0726:0.0:0.9274:0.0	.	113;96	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	K	113;113;369;96;113	ENSP00000274056:Q113K;ENSP00000427223:Q113K;ENSP00000421322:Q369K;ENSP00000345676:Q96K;ENSP00000426731:Q113K	ENSP00000274056:Q113K	Q	-	1	0	MARCH1	164726437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	1.367000	0.46095	0.585000	0.79938	CAG		0.537	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		6	52	1	0	1	1	1	6	52					T	164506987	G	T	164506987	3	4	452	1	0	0	0	0	1	0	0	0	9298	1357	47	5	544	5	MARCH1	4	164506987	Missense_Mutation	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08	123677793	164506987	26647289	15	30937											
PCDH12	51294	broad.mit.edu	37	chr5	141334957	141334957	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcagcgtcctgtacagggtCggggtgaggtggaagggggc	6	6	21	8	3	0	1	0	1	0	0	2	2	1	2	1	7	2	2	1	7	2	1			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr5:141334957C>T	ENST00000231484.3	-	1	3670	c.2460G>A	c.(2458-2460)ccG>ccA	p.P820P	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	820					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			TGTACAGGGTCGGGGTGAGGT	0.612																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(2458-2460)ccG>ccA		protocadherin 12							50	47	48					5																	141334957		2203	4300	6503	SO:0001819	synonymous_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141334957C>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2460G>A	5.37:g.141334957C>T							p.P820P	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3670	-		all_hematologic(541;0.0999)	820					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	ENST00000231484.3	37	c.2460G>A	CCDS4269.1																																																																																				0.612	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		5	28	0	0	0	1	0	5	28					T	141334957	C	T	141334957	2	4	452	1	0	0	0	0	0	0	0	1	11510	871	31	2		2	PCDH12	5	141334957	Silent	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08		141334957	39580303	16	30938											
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217407	26217407	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcttagagctagctggcAacgcggctcgcgacaataag	12	7	12	10	4	1	2	0	0	1	2	2	3	1	2	0	2	3	4	0	2	5	3			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr6:26217407A>C	ENST00000303910.2	+	1	243	c.205A>C	c.(205-207)Aac>Cac	p.N69H	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	69						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GCTAGCTGGCAACGCGGCTCG	0.602																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(205-207)Aac>Cac		histone cluster 1, H2ae							61	61	61					6																	26217407		2203	4300	6503	SO:0001583	missense	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217407A>C	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"Histones / Replication-dependent"	4724	protein-coding gene	gene with protein product		602786	"H2A histone family, member A", "histone 1, H2ae"	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.205A>C	6.37:g.26217407A>C	ENSP00000303373:p.Asn69His						p.N69H	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN			1	243	+		all_hematologic(11;0.196)	69					P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	c.205A>C	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	13.83	2.352765	0.41700	.	.	ENSG00000168274	ENST00000303910	T	0.69926	-0.44	4.07	4.07	0.47477	.	0.000000	0.36740	U	0.002429	D	0.86573	0.5965	H	0.99042	4.41	0.46356	D	0.999004	.	.	.	.	.	.	D	0.91107	0.4919	8	0.87932	D	0	.	12.6507	0.56759	1.0:0.0:0.0:0.0	.	.	.	.	H	69	ENSP00000303373:N69H	ENSP00000303373:N69H	N	+	1	0	HIST1H2AE	26325386	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	8.908000	0.92640	1.834000	0.53371	0.528000	0.53228	AAC		0.602	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		5	32	0	0	0	1	0	5	32					C	26217407	A	C	26217407	3	2	452	1	0	0	0	0	1	0	0	0	7132	130	5	5	207	5	HIST1H2AE	6	26217407	Missense_Mutation	SNP	A	TCGA-YL-A8HO-01A-11D-A364-08		26217407	144897660	17	30939											
LACE1	246269	broad.mit.edu	37	chr6	108768474	108768474	+	Frame_Shift_Del	DEL	C	C	-																															attaccggaaaagggaacttCctgctgcaggaaaactctac																										TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr6:108768474delC	ENST00000368977.4	+	8	1051	c.865delC	c.(865-867)cctfs	p.P289fs		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	289						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AAGGGAACTTCCTGCTGCAGG	0.328																																						ENST00000368977.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(865-867)ctfs		lactation elevated 1							103	106	105					6																	108768474		2203	4300	6503	SO:0001589	frameshift_variant	246269						ATP binding	g.chr6:108768474delC	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"ATPase family gene 1 homolog (S. cerevisiae)"					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.865delC	6.37:g.108768474delC	ENSP00000357973:p.Pro289fs						p.P289fs	NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	8	1051	+		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)	289					Q8N6A3	Frame_Shift_Del	DEL	ENST00000368977.4	37	c.865delC	CCDS5067.1																																																																																				0.328	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		7	92						7	92	---	---	---	---	-	108768474	C	-	108768474	7	5	452	1	0	1	0	1	0	0	0	0	8595	855	30	0	895	0	LACE1	6	108768474	Frame_Shift_Del	DEL	C	TCGA-YL-A8HO-01A-11D-A364-08	82551067	108768474	62346593	18	30940											
ZNF498	221785	broad.mit.edu	37	chr7	99217321	99217321	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaagagttgccatggggcaGaggaagggaggaccctagtc	12	5	17	7	0	0	2	0	0	0	2	1	6	0	5	2	5	1	2	2	5	3	2			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr7:99217321G>C	ENST00000394152.2	+	4	419	c.92G>C	c.(91-93)aGa>aCa	p.R31T	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.R31T|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.R31T|ZSCAN25_ENST00000466948.1_3'UTR	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	31					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CCATGGGGCAGAGGAAGGGAG	0.557																																						ENST00000394152.2																			0											c.(91-93)aGa>aCa		zinc finger and SCAN domain containing 25							146	164	158					7																	99217321		2203	4300	6503	SO:0001583	missense	221785							g.chr7:99217321G>C	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"-", "Zinc fingers, C2H2-type"	21961	protein-coding gene	gene with protein product			"zinc finger protein 498"	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.92G>C	7.37:g.99217321G>C	ENSP00000377708:p.Arg31Thr					ZSCAN25_ENST00000466948.1_3'UTR|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.R31T|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.R31T	p.R31T	NM_145115.2	NP_660090.2					4	419	+								A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.92G>C	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	G	5.389	0.257007	0.10239	.	.	ENSG00000197037	ENST00000394152;ENST00000431485;ENST00000334715;ENST00000262941	T;T;T;T	0.08896	3.08;3.05;3.08;3.04	4.4	1.43	0.22495	.	0.283865	0.26038	N	0.026717	T	0.04452	0.0122	N	0.19112	0.55	0.24533	N	0.994106	B;B	0.30281	0.275;0.079	B;B	0.27076	0.076;0.035	T	0.33650	-0.9860	10	0.62326	D	0.03	-19.0159	3.6552	0.08218	0.2468:0.2061:0.5471:0.0	.	31;31	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	T	31	ENSP00000377708:R31T;ENSP00000413144:R31T;ENSP00000334800:R31T;ENSP00000262941:R31T	ENSP00000262941:R31T	R	+	2	0	ZNF498	99055257	0.978000	0.34361	0.141000	0.22245	0.000000	0.00434	1.305000	0.33493	0.305000	0.22832	-0.916000	0.02749	AGA		0.557	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		7	167	0	0	0	1	0	7	167					C	99217321	G	C	99217321	3	2	452	1	0	0	0	0	1	0	0	0	17944	942	33	5	94	5	ZNF498	7	99217321	Missense_Mutation	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08		99217321	59921342	19	30941											
ADRA1A	148	broad.mit.edu	37	chr8	26623613	26623613	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcatcataaaattcacAtgcttgatatgctctctgca	11	13	8	9	0	3	1	2	1	1	0	4	1	3	1	0	2	3	4	0	2	3	4			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr8:26623613A>G	ENST00000354550.4	-	3	1522	c.1323T>C	c.(1321-1323)caT>caC	p.H441H	ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Intron	NM_033304.2	NP_150647.2	P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	0					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		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)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TAAAATTCACATGCTTGATAT	0.443																																						ENST00000354550.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(1321-1323)caT>caC		adrenoceptor alpha 1A	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)						158	148	152					8																	26623613		2203	4300	6503	SO:0001819	synonymous_variant	148				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	g.chr8:26623613A>G	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000354550.4:c.1323T>C	8.37:g.26623613A>G						ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Intron	p.H441H	NM_033304.2	NP_150647.2	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	3	1522	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	0					Q9NPY0	Silent	SNP	ENST00000354550.4	37	c.1323T>C	CCDS6053.1																																																																																				0.443	ADRA1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216928.1	NM_033303		14	61	0	0	0	1	0	14	61					G	26623613	A	G	26623613	2	3	452	1	0	0	0	0	0	0	0	1	334	214	8	4		4	ADRA1A	8	26623613	Silent	SNP	A	TCGA-YL-A8HO-01A-11D-A364-08		26623613	119740409	20	30942											
MRPS28	28957	broad.mit.edu	37	chr8	80831351	80831351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagttcaagatctaatagcCgcaaccggaccctggttcct	11	10	8	12	2	2	1	1	0	1	1	3	2	3	2	4	2	2	3	4	2	5	5	rs200994359		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr8:80831351C>T	ENST00000276585.4	-	3	450	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	MRPS28_ENST00000521605.1_Silent_p.A82A|MRPS28_ENST00000521434.1_Missense_Mutation_p.R81Q	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	143						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			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)			ATCTAATAGCCGCAACCGGAC	0.368													C|||	1	0.000199681	0	0.0014	5008	,	,		13362	0		0	False		,,,				2504	0					ENST00000276585.4																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(427-429)cGg>cAg		mitochondrial ribosomal protein S28							106	107	107					8																	80831351		2203	4300	6503	SO:0001583	missense	28957					mitochondrial small ribosomal subunit		g.chr8:80831351C>T	AB061209	CCDS6226.1	8q21.1-q21.2	2012-09-13			ENSG00000147586	ENSG00000147586		"Mitochondrial ribosomal proteins / small subunits"	14513	protein-coding gene	gene with protein product		611990				11279123, 11042152	Standard	NM_014018		Approved	MRP-S28, HSPC007, MRPS35	uc003ybp.3	Q9Y2Q9	OTTHUMG00000164642	ENST00000276585.4:c.428G>A	8.37:g.80831351C>T	ENSP00000276585:p.Arg143Gln					MRPS28_ENST00000521434.1_Missense_Mutation_p.R81Q|MRPS28_ENST00000521605.1_Silent_p.A82A	p.R143Q	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)		3	450	-	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		143					B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000276585.4	37	c.428G>A	CCDS6226.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	25.4	4.631920	0.87660	.	.	ENSG00000147586	ENST00000276585;ENST00000521434;ENST00000519120;ENST00000520946	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.78	5.78	0.91487	RNA-binding domain, S1 (1);	0.137366	0.46758	D	0.000273	T	0.77405	0.4125	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78924	-0.2012	10	0.87932	D	0	.	18.7813	0.91933	0.0:1.0:0.0:0.0	.	143	Q9Y2Q9	RT28_HUMAN	Q	143;81;61;81	ENSP00000276585:R143Q;ENSP00000428880:R81Q;ENSP00000428744:R61Q;ENSP00000430401:R81Q	ENSP00000276585:R143Q	R	-	2	0	MRPS28	80993906	0.988000	0.35896	0.911000	0.35937	0.587000	0.36485	2.796000	0.47869	2.719000	0.93026	0.650000	0.86243	CGG		0.368	MRPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379526.1	NM_014018		18	57	0	0	0	1	0	18	57					T	80831351	C	T	80831351	3	4	452	1	0	0	0	0	1	0	0	0	9839	652	23	2	139	2	MRPS28	8	80831351	Missense_Mutation	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08	54207738	80831351	65532671	21	30943											
OC90	729330	broad.mit.edu	37	chr8	133053367	133053367	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagacagtccatctcagcGgcctcctcatagcacctgcg	8	8	10	15	2	2	1	2	0	1	1	5	2	4	1	4	2	3	1	4	2	1	1	rs368734460		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr8:133053367G>A	ENST00000443356.2	-	6	467	c.381C>T	c.(379-381)gcC>gcT	p.A127A	OC90_ENST00000262283.5_Silent_p.A323A|OC90_ENST00000254627.3_Silent_p.A127A|OC90_ENST00000603859.1_Silent_p.A127A			Q02509	OC90_HUMAN	otoconin 90	127	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.A133A(1)|p.A323A(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCATCTCAGCGGCCTCCTCAT	0.577																																						ENST00000262283.5																			2	Substitution - coding silent(2)	p.A133A(1)|p.A323A(1)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(967-969)gcC>gcT		otoconin 90		G		0,3930		0,0,1965	108	107	107		381	-11.2	0	8		107	1,8323		0,1,4161	no	coding-synonymous	OC90	NM_001080399.2		0,1,6126	AA,AG,GG		0.012,0.0,0.0082		127/478	133053367	1,12253	1965	4162	6127	SO:0001819	synonymous_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053367G>A	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.381C>T	8.37:g.133053367G>A						OC90_ENST00000254627.3_Silent_p.A127A|OC90_ENST00000603859.1_Silent_p.A127A|OC90_ENST00000443356.2_Silent_p.A127A	p.A323A			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		9	1068	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		127			Phospholipase A2-like 2.		B4DNG8	Silent	SNP	ENST00000443356.2	37	c.969C>T																																																																																					0.577	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		14	87	0	0	0	1	0	14	87					A	133053367	G	A	133053367	2	1	452	1	0	0	0	0	0	0	0	1	10814	1103	39	2		2	OC90	8	133053367	Silent	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08	52222016	133053367	13310655	22	30944											
FAM120A	23196	broad.mit.edu	37	chr9	96294518	96294518	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctctgctctataggccagttCgtcagtatgtttacggagtc	7	14	10	10	2	3	0	1	0	2	0	5	1	3	1	1	2	2	4	1	2	4	6			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr9:96294518C>G	ENST00000277165.6	+	10	2010	c.1816C>G	c.(1816-1818)Cgt>Ggt	p.R606G	FAM120A_ENST00000340893.4_Missense_Mutation_p.R606G|FAM120A_ENST00000333936.5_Missense_Mutation_p.R634G|FAM120A_ENST00000475933.1_3'UTR	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	606						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGGCCAGTTCGTCAGTATGT	0.433																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1816-1818)Cgt>Ggt		family with sequence similarity 120A							130	135	134					9																	96294518		2203	4300	6503	SO:0001583	missense	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96294518C>G	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.1816C>G	9.37:g.96294518C>G	ENSP00000277165:p.Arg606Gly					FAM120A_ENST00000475933.1_3'UTR|FAM120A_ENST00000340893.4_Missense_Mutation_p.R606G|FAM120A_ENST00000333936.5_Missense_Mutation_p.R634G	p.R606G	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN			10	2010	+			606					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	c.1816C>G	CCDS6706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.204146|4.204146	0.79127|0.79127	.|.	.|.	ENSG00000048828|ENSG00000048828	ENST00000446420|ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	.|T;T;T;T	.|0.53423	.|0.62;0.62;0.62;0.62	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	.|0.076589	.|0.56097	.|D	.|0.000032	T|T	0.71626|0.71626	0.3362|0.3362	M|M	0.74647|0.74647	2.275|2.275	0.50171|0.50171	D|D	0.999854|0.999854	.|D;D;P;D	.|0.89917	.|0.99;1.0;0.872;1.0	.|P;D;P;D	.|0.87578	.|0.736;0.998;0.518;0.993	T|T	0.72421|0.72421	-0.4299|-0.4299	5|10	.|0.87932	.|D	.|0	-11.2654|-11.2654	20.4777|20.4777	0.99188|0.99188	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|606;634;606;606	.|Q9NZB2-4;Q9NZB2-6;Q9NZB2-5;Q9NZB2	.|.;.;.;F120A_HUMAN	L|G	448|606;634;606;28	.|ENSP00000277165:R606G;ENSP00000334918:R634G;ENSP00000344698:R606G;ENSP00000412440:R28G	.|ENSP00000277165:R606G	F|R	+|+	3|1	2|0	FAM120A|FAM120A	95334339|95334339	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.948000|4.948000	0.63590|0.63590	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	TTC|CGT		0.433	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		7	97	0	0	0	1	0	7	97					G	96294518	C	G	96294518	3	3	452	1	0	0	0	0	1	0	0	0	5415	884	31	5	1854	5	FAM120A	9	96294518	Missense_Mutation	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08		96294518	44918913	23	30945											
ABCA1	19	broad.mit.edu	37	chr9	107576492	107576492	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaaggcccgcctgtttcGtcttgctggcaaggtaccat	6	10	11	14	3	1	0	0	0	1	0	2	1	1	0	4	3	2	4	4	3	3	3	rs575627531		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr9:107576492G>A	ENST00000374736.3	-	27	4202	c.3808C>T	c.(3808-3810)Cga>Tga	p.R1270*		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1270					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			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)|Glyburide(DB01016)|Probucol(DB01599)	CGCCTGTTTCGTCTTGCTGGC	0.468													G|||	1	0.000199681	0	0	5008	,	,		21014	0		0	False		,,,				2504	0.001					ENST00000374736.3																			0				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						c.(3808-3810)Cga>Tga		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						83	72	76					9																	107576492		2203	4300	6503	SO:0001587	stop_gained	19				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	g.chr9:107576492G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3808C>T	9.37:g.107576492G>A	ENSP00000363868:p.Arg1270*						p.R1270*	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	27	4202	-			1270					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Nonsense_Mutation	SNP	ENST00000374736.3	37	c.3808C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	46	12.842861	0.99700	.	.	ENSG00000165029	ENST00000374736	.	.	.	5.39	4.42	0.53409	.	0.221905	0.39687	N	0.001289	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	10.852	0.46775	0.0:0.0:0.5774:0.4226	.	.	.	.	X	1270	.	ENSP00000363868:R1270X	R	-	1	2	ABCA1	106616313	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.691000	0.54720	2.548000	0.85928	0.455000	0.32223	CGA		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		5	25	0	0	0	1	0	5	25					A	107576492	G	A	107576492	4	1	452	1	0	0	0	0	0	1	0	0	28	1153	40	1	3073	1	ABCA1	9	107576492	Nonsense_Mutation	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08	11281974	107576492	33636939	24	30946											
CYP2C19	1557	broad.mit.edu	37	chr10	96580307	96580307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaacttggtaatcactgcaGctgacttacttggagctggg	11	11	11	8	0	1	1	1	1	0	0	1	2	1	2	0	3	5	4	0	3	4	4			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr10:96580307G>A	ENST00000371321.3	+	6	956	c.874G>A	c.(874-876)Gct>Act	p.A292T	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	292					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.A292P(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	AATCACTGCAGCTGACTTACT	0.418																																						ENST00000371321.3																			1	Substitution - Missense(1)	p.A292P(1)	large_intestine(1)	central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(874-876)Gct>Act		cytochrome P450, family 2, subfamily C, polypeptide 19	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)						167	152	157					10																	96580307		2203	4300	6503	SO:0001583	missense	1557				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	g.chr10:96580307G>A	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.874G>A	10.37:g.96580307G>A	ENSP00000360372:p.Ala292Thr					CYP2C19_ENST00000464755.1_3'UTR	p.A292T	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	6	956	+		Colorectal(252;0.09)	292					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.874G>A	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	4.025	0.002041	0.07819	.	.	ENSG00000165841	ENST00000371321	T	0.12147	2.71	3.95	-7.89	0.01174	.	0.479979	0.17652	U	0.166646	T	0.04634	0.0126	N	0.16166	0.38	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.19943	-1.0290	10	0.22109	T	0.4	.	5.0567	0.14537	0.2652:0.0892:0.5167:0.1289	.	292	P33261	CP2CJ_HUMAN	T	292	ENSP00000360372:A292T	ENSP00000360372:A292T	A	+	1	0	CYP2C19	96570297	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.207000	0.00041	-2.175000	0.00771	-0.755000	0.03482	GCT		0.418	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		5	80	0	0	0	1	0	5	80					A	96580307	G	A	96580307	3	1	452	1	0	0	0	0	1	0	0	0	4166	971	34	3	896	3	CYP2C19	10	96580307	Missense_Mutation	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08		96580307	38954440	25	30947											
C11orf42	160298	broad.mit.edu	37	chr11	6231080	6231080	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tataaactggccacctgcagGtcatcgaggagcactttggg	10	9	12	10	1	1	0	1	0	0	0	2	2	1	1	2	4	3	2	2	4	3	3			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:6231080G>A	ENST00000316375.2	+	2	123	c.73G>A	c.(73-75)Gtc>Atc	p.V25I	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	25										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACCTGCAGGTCATCGAGGA	0.507																																						ENST00000316375.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15						c.e2-1		chromosome 11 open reading frame 42							160	134	143					11																	6231080		2201	4296	6497	SO:0001630	splice_region_variant	160298							g.chr11:6231080G>A	BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.73-1G>A	11.37:g.6231080G>A							p.V25_splice	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	123	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	25						Splice_Site	SNP	ENST00000316375.2	37	c.72_splice	CCDS7759.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245567	0.59103	.	.	ENSG00000180878	ENST00000316375	T	0.60299	0.2	5.1	5.1	0.69264	.	0.000000	0.47455	D	0.000227	T	0.61565	0.2357	N	0.24115	0.695	0.35074	D	0.762793	D	0.61697	0.99	D	0.73380	0.98	T	0.66488	-0.5911	9	.	.	.	-12.088	13.8814	0.63684	0.0:0.0:1.0:0.0	.	25	Q8N5U0	CK042_HUMAN	I	25	ENSP00000321021:V25I	.	V	+	1	0	C11orf42	6187656	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.841000	0.62824	2.659000	0.90383	0.585000	0.79938	GTC		0.507	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257227.2	NM_173525	Missense_Mutation	5	68	0	0	0	1	0	5	68					A	6231080	G	A	6231080	5	1	452	1	0	0	0	0	0	0	1	0	1641	1275	44	3	79	3	C11orf42	11	6231080	Splice_Site	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08		6231080	128775436	26	30948											
MRGPRX1	259249	broad.mit.edu	37	chr11	18956163	18956163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggagaaggcgttcctgcGcatgcggcagcccaggagcc	8	5	16	12	3	0	1	0	0	0	1	1	4	1	2	3	4	4	3	3	4	1	1			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:18956163G>A	ENST00000302797.3	-	1	393	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	57					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCGTTCCTGCGCATGCGGCAG	0.557																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(169-171)Cgc>Tgc		MAS-related GPR, member X1							146	141	143					11																	18956163		2194	4286	6480	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956163G>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.169C>T	11.37:g.18956163G>A	ENSP00000305766:p.Arg57Cys					MRGPRX1_ENST00000526914.1_5'UTR	p.R57C	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	393	-			57					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.169C>T	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	9.146	1.015153	0.19355	.	.	ENSG00000170255	ENST00000302797	T	0.10960	2.82	2.43	1.47	0.22746	GPCR, rhodopsin-like superfamily (1);	0.831486	0.10560	N	0.660392	T	0.14743	0.0356	M	0.83118	2.625	0.09310	N	1	B	0.26935	0.164	B	0.24269	0.052	T	0.24083	-1.0170	10	0.51188	T	0.08	.	4.9666	0.14094	0.0:0.2369:0.521:0.2421	.	57	Q96LB2	MRGX1_HUMAN	C	57	ENSP00000305766:R57C	ENSP00000305766:R57C	R	-	1	0	MRGPRX1	18912739	0.000000	0.05858	0.038000	0.18304	0.029000	0.11900	-0.661000	0.05311	0.548000	0.28955	0.491000	0.48974	CGC		0.557	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		4	150	0	0	0	1	0	4	150					A	18956163	G	A	18956163	3	1	452	1	0	0	0	0	1	0	0	0	9766	1087	38	1	803	1	MRGPRX1	11	18956163	Missense_Mutation	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08	12725083	18956163	116050353	27	30949											
BDNF	627	broad.mit.edu	37	chr11	27679584	27679584	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgtagaagtattgcttcagTtggccttttgatacagggac	9	14	11	7	1	1	2	1	1	0	1	2	3	1	3	1	2	2	4	1	2	4	8			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:27679584T>C	ENST00000525528.1	-	1	1621	c.528A>G	c.(526-528)caA>caG	p.Q176Q	BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000418212.1_Silent_p.Q176Q|BDNF_ENST00000395981.3_Silent_p.Q176Q|BDNF_ENST00000533246.1_Silent_p.Q176Q|BDNF_ENST00000395986.2_Silent_p.Q191Q|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000395980.2_Silent_p.Q176Q|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000533131.1_Silent_p.Q176Q|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000532997.1_Silent_p.Q176Q|BDNF_ENST00000314915.6_Silent_p.Q184Q|BDNF_ENST00000525950.1_Silent_p.Q176Q|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000356660.4_Silent_p.Q176Q|BDNF_ENST00000420794.1_Silent_p.Q176Q|BDNF_ENST00000395978.3_Silent_p.Q176Q|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000439476.2_Silent_p.Q176Q|BDNF_ENST00000395983.3_Silent_p.Q176Q|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000530861.1_Silent_p.Q176Q|BDNF_ENST00000438929.1_Silent_p.Q258Q|BDNF-AS_ENST00000532965.1_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	176					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						ATTGCTTCAGTTGGCCTTTTG	0.502																																						ENST00000525528.1																			0				breast(1)|large_intestine(3)|lung(2)	6						c.(526-528)caA>caG		brain-derived neurotrophic factor							215	211	212					11																	27679584		2202	4299	6501	SO:0001819	synonymous_variant	627					extracellular region	growth factor activity	g.chr11:27679584T>C	AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"Endogenous ligands"	1033	protein-coding gene	gene with protein product	"neurotrophin"	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.528A>G	11.37:g.27679584T>C						BDNF_ENST00000395981.3_Silent_p.Q176Q|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000533246.1_Silent_p.Q176Q|BDNF_ENST00000356660.4_Silent_p.Q176Q|BDNF_ENST00000438929.1_Silent_p.Q258Q|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395980.2_Silent_p.Q176Q|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000533131.1_Silent_p.Q176Q|BDNF_ENST00000314915.6_Silent_p.Q184Q|BDNF_ENST00000395986.2_Silent_p.Q191Q|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000439476.2_Silent_p.Q176Q|BDNF_ENST00000420794.1_Silent_p.Q176Q|BDNF_ENST00000395983.3_Silent_p.Q176Q|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000530861.1_Silent_p.Q176Q|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000418212.1_Silent_p.Q176Q|BDNF_ENST00000532997.1_Silent_p.Q176Q|BDNF_ENST00000525950.1_Silent_p.Q176Q|BDNF_ENST00000395978.3_Silent_p.Q176Q	p.Q176Q	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN			1	1621	-			176					A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Silent	SNP	ENST00000525528.1	37	c.528A>G	CCDS7866.1																																																																																				0.502	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735		11	115	0	0	0	1	0	11	115					C	27679584	T	C	27679584	2	2	452	1	0	0	0	0	0	0	0	1	1394	1722	60	4		4	BDNF	11	27679584	Silent	SNP	T	TCGA-YL-A8HO-01A-11D-A364-08	8723421	27679584	107326932	28	30950											
STT3A	3703	broad.mit.edu	37	chr11	125483004	125483004	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactatctgcccgtggtgggGatggcagtaggatcatattt	8	13	13	7	1	2	0	1	0	1	0	2	2	2	2	1	5	2	2	1	5	4	5			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:125483004G>T	ENST00000529196.1	+	14	1692	c.1486G>T	c.(1486-1488)Gat>Tat	p.D496Y	STT3A_ENST00000392708.4_Missense_Mutation_p.D496Y|STT3A_ENST00000531491.1_Missense_Mutation_p.D404Y			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	496					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	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)		CCGTGGTGGGGATGGCAGTAG	0.483																																						ENST00000392708.4																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(1486-1488)Gat>Tat		STT3A, subunit of the oligosaccharyltransferase complex (catalytic)							181	168	172					11																	125483004		2201	4299	6500	SO:0001583	missense	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125483004G>T	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1486G>T	11.37:g.125483004G>T	ENSP00000436962:p.Asp496Tyr					STT3A_ENST00000529196.1_Missense_Mutation_p.D496Y|STT3A_ENST00000531491.1_Missense_Mutation_p.D404Y	p.D496Y	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	13	1645	+	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)	496					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	c.1486G>T	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091628	0.76756	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.83959	0.5367	M	0.92219	3.285	0.80722	D	1	P;B	0.47762	0.9;0.314	P;B	0.54174	0.744;0.178	D	0.87053	0.2148	9	0.87932	D	0	-19.6671	19.8035	0.96518	0.0:0.0:1.0:0.0	.	404;496	B4DJ24;P46977	.;STT3A_HUMAN	Y	496;496;404	.	ENSP00000376472:D496Y	D	+	1	0	STT3A	124988214	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.869000	0.99810	2.771000	0.95319	0.563000	0.77884	GAT		0.483	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		7	73	1	0	2.7689e-08	1	3.38421e-08	7	73					T	125483004	G	T	125483004	3	4	452	1	0	0	0	0	1	0	0	0	15332	1174	41	5	1532	5	STT3A	11	125483004	Missense_Mutation	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08	97803420	125483004	9523512	29	30951											
COMMD6	170622	broad.mit.edu	37	chr13	76104276	76104276	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtggaatcgtcatttcaaAgcacttggtctttacttggc	8	15	9	9	1	3	0	2	0	1	0	4	1	3	1	0	3	2	1	0	3	3	5			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr13:76104276A>G	ENST00000377615.3	-	4	345	c.181T>C	c.(181-183)Ttt>Ctt	p.F61L	COMMD6_ENST00000460675.1_5'UTR|COMMD6_ENST00000355801.4_Missense_Mutation_p.F61L|COMMD6_ENST00000377619.5_Missense_Mutation_p.F76L|COMMD6_ENST00000406936.3_Missense_Mutation_p.F61L			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6	61	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		GTCATTTCAAAGCACTTGGTC	0.378																																						ENST00000377615.3																			0				breast(1)|lung(1)|urinary_tract(1)	3						c.(181-183)Ttt>Ctt		COMM domain containing 6							151	135	140					13																	76104276		2203	4300	6503	SO:0001583	missense	170622					cytoplasm|nucleus	protein binding	g.chr13:76104276A>G	AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243			24015	protein-coding gene	gene with protein product		612377				15799966	Standard	NM_203497		Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377615.3:c.181T>C	13.37:g.76104276A>G	ENSP00000366841:p.Phe61Leu					COMMD6_ENST00000377619.5_Missense_Mutation_p.F76L|COMMD6_ENST00000460675.1_5'UTR|COMMD6_ENST00000355801.4_Missense_Mutation_p.F61L|COMMD6_ENST00000406936.3_Missense_Mutation_p.F61L	p.F61L			Q7Z4G1	COMD6_HUMAN		GBM - Glioblastoma multiforme(99;0.0104)	4	345	-		Breast(118;0.0979)|Prostate(6;0.122)	61			COMM.		A6NF28|B7ZLN0|Q5TBK4	Missense_Mutation	SNP	ENST00000377615.3	37	c.181T>C	CCDS9451.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590628	0.46214	.	.	ENSG00000188243	ENST00000406936;ENST00000377615;ENST00000377619;ENST00000355801	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	5.23	4.02	0.46733	COMM domain (1);	0.050243	0.85682	D	0.000000	T	0.08802	0.0218	.	.	.	0.54753	D	0.999987	B;P	0.34724	0.247;0.465	B;B	0.34590	0.186;0.179	T	0.30966	-0.9960	9	0.23891	T	0.37	.	11.0338	0.47789	0.8562:0.0:0.0:0.1438	.	61;61	Q7Z4G1;Q7Z4G1-2	COMD6_HUMAN;.	L	61;61;76;61	ENSP00000385660:F61L;ENSP00000366841:F61L;ENSP00000366845:F76L;ENSP00000348054:F61L	ENSP00000348054:F61L	F	-	1	0	COMMD6	75002277	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	5.687000	0.68219	0.897000	0.36392	0.533000	0.62120	TTT		0.378	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045288.4	XM_085023		4	77	0	0	0	1	0	4	77					G	76104276	A	G	76104276	3	3	452	1	0	0	0	0	1	0	0	0	3720	72	3	4	127	4	COMMD6	13	76104276	Missense_Mutation	SNP	A	TCGA-YL-A8HO-01A-11D-A364-08		76104276	39065602	30	30952											
REC8	9985	broad.mit.edu	37	chr14	24642195	24642195	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctccctctatctctcagcCcaacttcagatcggtgtgat	7	14	6	14	1	5	2	2	1	3	1	8	2	5	2	2	1	2	0	2	1	2	3			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr14:24642195C>T	ENST00000311457.3	+	4	812	c.213C>T	c.(211-213)gcC>gcT	p.A71A	REC8_ENST00000559919.1_Silent_p.A71A			O95072	REC8_HUMAN	REC8 meiotic recombination protein	71					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				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)		ATCTCTCAGCCCAACTTCAGA	0.602																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3																			0				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						c.(211-213)gcC>gcT		REC8 meiotic recombination protein							83	91	89					14																	24642195		1973	4145	6118	SO:0001819	synonymous_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642195C>T	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"REC8-like 1 (yeast)", "REC8 homolog (yeast)"	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.213C>T	14.37:g.24642195C>T						REC8_ENST00000559919.1_Silent_p.A71A	p.A71A			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	4	812	+			71					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Silent	SNP	ENST00000311457.3	37	c.213C>T	CCDS41932.1																																																																																				0.602	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		6	36	0	0	0	1	0	6	36					T	24642195	C	T	24642195	2	4	452	1	0	0	0	0	0	0	0	1	13199	610	22	3		3	REC8	14	24642195	Silent	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08		24642195	82707345	31	30953											
SIPA1L1	26037	broad.mit.edu	37	chr14	72054926	72054926	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgatagcctgtcctccaaaAgcagtcctgtgagtcaggga	10	10	11	10	0	1	2	1	2	0	0	4	3	4	3	4	1	2	1	4	1	3	2			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr14:72054926A>T	ENST00000555818.1	+	2	685	c.337A>T	c.(337-339)Agc>Tgc	p.S113C	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S113C|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S113C	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	113	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			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)		GTCCTCCAAAAGCAGTCCTGT	0.453																																						ENST00000555818.1																			0				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						c.(337-339)Agc>Tgc		signal-induced proliferation-associated 1 like 1							146	152	150					14																	72054926		2203	4300	6503	SO:0001583	missense	26037				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	g.chr14:72054926A>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.337A>T	14.37:g.72054926A>T	ENSP00000450832:p.Ser113Cys					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S113C|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S113C	p.S113C	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	685	+			113			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.337A>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	16.90	3.250860	0.59212	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.78246	-1.16;-1.16;-1.16	5.93	3.3	0.37823	.	0.322816	0.41500	D	0.000862	T	0.80138	0.4568	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	P;D;P	0.66847	0.808;0.947;0.808	T	0.80473	-0.1367	10	0.66056	D	0.02	-17.9926	10.537	0.45009	0.8454:0.0:0.1546:0.0	.	113;113;113	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	C	113	ENSP00000370630:S113C;ENSP00000450832:S113C;ENSP00000351352:S113C	ENSP00000351352:S113C	S	+	1	0	SIPA1L1	71124679	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.533000	0.67160	1.074000	0.40909	0.533000	0.62120	AGC		0.453	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		7	84	0	0	0	1	0	7	84					T	72054926	A	T	72054926	3	4	452	1	0	0	0	0	1	0	0	0	14329	72	3	5	339	5	SIPA1L1	14	72054926	Missense_Mutation	SNP	A	TCGA-YL-A8HO-01A-11D-A364-08	47412731	72054926	35294614	32	30954											
NRXN3	9369	broad.mit.edu	37	chr14	79181239	79181239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaccgagctgtggactGccatgctcaactatggctac	8	9	9	15	1	1	0	1	0	0	0	2	2	2	1	4	2	5	3	4	2	3	2			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr14:79181239G>T	ENST00000554719.1	+	5	1173	c.682G>T	c.(682-684)Gcc>Tcc	p.A228S	NRXN3_ENST00000335750.5_Missense_Mutation_p.A228S	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCTGTGGACTGCCATGCTCAA	0.592																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(682-684)Gcc>Tcc		neurexin 3							82	69	74					14																	79181239		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79181239G>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.682G>T	14.37:g.79181239G>T	ENSP00000451648:p.Ala228Ser					NRXN3_ENST00000335750.5_Missense_Mutation_p.A228S	p.A228S	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	5	1173	+		Renal(4;0.00876)	0			Laminin G-like.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.682G>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389799	0.95988	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.79033	-1.23;-1.23	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88847	0.6548	.	.	.	0.80722	D	1	D;D	0.69078	0.997;0.97	D;D	0.91635	0.999;0.975	D	0.87829	0.2643	8	.	.	.	.	20.1082	0.97900	0.0:0.0:1.0:0.0	.	601;228	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	S	601;599;228;228	ENSP00000451648:A228S;ENSP00000338349:A228S	.	A	+	1	0	NRXN3	78250992	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.764000	0.94973	0.555000	0.69702	GCC		0.592	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		3	37	1	0	1	1	1	3	37					T	79181239	G	T	79181239	3	4	452	1	0	0	0	0	1	0	0	0	10667	1319	46	5	692	5	NRXN3	14	79181239	Missense_Mutation	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08	7126313	79181239	28168301	33	30955											
NEDD4	4734	broad.mit.edu	37	chr15	56126282	56126282	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatttgcactgtagccatttTtatactttgtatgttccctc	7	19	6	9	0	0	0	0	0	0	0	2	1	1	0	2	0	3	4	2	0	4	9			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr15:56126282T>C	ENST00000508342.1	-	22	3940	c.3641A>G	c.(3640-3642)aAa>aGa	p.K1214R	NEDD4_ENST00000435532.3_Missense_Mutation_p.K795R|NEDD4_ENST00000338963.2_Missense_Mutation_p.K1142R|NEDD4_ENST00000506154.1_Missense_Mutation_p.K1198R	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1214	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			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)		GTAGCCATTTTTATACTTTGT	0.308																																						ENST00000508342.1																			0				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						c.(3640-3642)aAa>aGa		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							162	146	152					15																	56126282		2193	4292	6485	SO:0001583	missense	4734				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	g.chr15:56126282T>C	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3641A>G	15.37:g.56126282T>C	ENSP00000424827:p.Lys1214Arg					NEDD4_ENST00000435532.3_Missense_Mutation_p.K795R|NEDD4_ENST00000338963.2_Missense_Mutation_p.K1142R|NEDD4_ENST00000506154.1_Missense_Mutation_p.K1198R	p.K1214R			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	22	3940	-			1214			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.3641A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.32|13.32	2.201431|2.201431	0.38905|0.38905	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	T|T;T;T;T	0.57273|0.58652	0.41|0.32;0.32;0.32;0.32	5.54|5.54	5.54|5.54	0.83059|0.83059	.|HECT (4);	0.043563|0.043563	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.59797|0.59797	0.2220|0.2220	N|N	0.20685|0.20685	0.6|0.6	0.80722|0.80722	D|D	1|1	.|D;B;P;B	.|0.76494	.|0.999;0.374;0.486;0.262	.|D;B;B;B	.|0.77004	.|0.989;0.181;0.39;0.152	T|T	0.55042|0.55042	-0.8202|-0.8202	8|10	0.87932|0.12766	D|T	0|0.61	.|.	14.864|14.864	0.70401|0.70401	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1198;795;1214;1142	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	E|R	805|1214;795;1142;1198	ENSP00000422455:K805E|ENSP00000424827:K1214R;ENSP00000410613:K795R;ENSP00000345530:K1142R;ENSP00000422705:K1198R	ENSP00000422455:K805E|ENSP00000345530:K1142R	K|K	-|-	1|2	0|0	NEDD4|NEDD4	53913574|53913574	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.987000|0.987000	0.75469|0.75469	8.036000|8.036000	0.88901|0.88901	2.094000|2.094000	0.63399|0.63399	0.528000|0.528000	0.53228|0.53228	AAA|AAA		0.308	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		13	59	0	0	0	1	0	13	59					C	56126282	T	C	56126282	3	2	452	1	0	0	0	0	1	0	0	0	10310	1841	64	4	334	4	NEDD4	15	56126282	Missense_Mutation	SNP	T	TCGA-YL-A8HO-01A-11D-A364-08		56126282	46405110	34	30956											
IGF1R	3480	broad.mit.edu	37	chr15	99467806	99467806	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggaagtatggaggggccaAgctaaaccggctaaacccgg	13	4	14	10	2	0	0	0	0	0	0	0	2	0	2	3	6	3	3	3	6	7	3			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr15:99467806A>C	ENST00000268035.6	+	13	3286	c.2675A>C	c.(2674-2676)aAg>aCg	p.K892T	IGF1R_ENST00000558762.1_Missense_Mutation_p.K892T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	892	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			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(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	GGAGGGGCCAAGCTAAACCGG	0.498																																						ENST00000268035.6																			0				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						c.(2674-2676)aAg>aCg		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						150	143	146					15																	99467806		2197	4297	6494	SO:0001583	missense	3480				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	g.chr15:99467806A>C	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2675A>C	15.37:g.99467806A>C	ENSP00000268035:p.Lys892Thr					IGF1R_ENST00000558762.1_Missense_Mutation_p.K892T	p.K892T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	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)		13	3286	+	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)		892			Fibronectin type-III 3.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.2675A>C	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.557487	0.65425	.	.	ENSG00000140443	ENST00000268035	T	0.51325	0.71	5.92	2.46	0.29980	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000011	T	0.32971	0.0847	N	0.05351	-0.065	0.45056	D	0.998074	P;B	0.45078	0.85;0.051	P;B	0.49140	0.601;0.038	T	0.08827	-1.0703	10	0.35671	T	0.21	.	9.8922	0.41296	0.8126:0.0:0.1874:0.0	.	892;892	C9J5X1;P08069	.;IGF1R_HUMAN	T	892	ENSP00000268035:K892T	ENSP00000268035:K892T	K	+	2	0	IGF1R	97285329	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.260000	0.51523	1.079000	0.41038	0.533000	0.62120	AAG		0.498	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		22	64	0	0	0	1	0	22	64					C	99467806	A	C	99467806	3	2	452	1	0	0	0	0	1	0	0	0	7571	72	3	5	2725	5	IGF1R	15	99467806	Missense_Mutation	SNP	A	TCGA-YL-A8HO-01A-11D-A364-08	43341524	99467806	3063586	35	30957											
GRIN2A	2903	broad.mit.edu	37	chr16	9858336	9858336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggatagtgaatcctggCgtatggaatccacggatttc	9	12	12	8	2	1	1	0	1	1	0	4	4	3	4	2	4	0	1	2	4	4	3			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr16:9858336C>A	ENST00000396573.2	-	14	3374	c.3065G>T	c.(3064-3066)cGc>cTc	p.R1022L	GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1022L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1022L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R865L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1022L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1022L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1022					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R1022H(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGAATCCTGGCGTATGGAATC	0.532																																						ENST00000396573.2																			1	Substitution - Missense(1)	p.R1022H(1)	large_intestine(1)	NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3064-3066)cGc>cTc		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						107	114	111					16																	9858336		2197	4300	6497	SO:0001583	missense	0				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	g.chr16:9858336C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3065G>T	16.37:g.9858336C>A	ENSP00000379818:p.Arg1022Leu					GRIN2A_ENST00000535259.1_Missense_Mutation_p.R865L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1022L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1022L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1022L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1022L	p.R1022L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3374	-			1022					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3065G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816458	0.50527	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7	5.33	5.33	0.75918	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.050105	0.85682	D	0.000000	T	0.33789	0.0875	L	0.55103	1.725	0.80722	D	1	D;B;D	0.69078	0.996;0.057;0.997	D;B;D	0.81914	0.992;0.07;0.995	T	0.00920	-1.1514	9	.	.	.	.	18.0263	0.89270	0.0:1.0:0.0:0.0	.	865;1022;1022	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	L	1022;1022;865;1022;1022	ENSP00000379818:R1022L;ENSP00000385872:R1022L;ENSP00000441572:R865L;ENSP00000332549:R1022L;ENSP00000379820:R1022L	.	R	-	2	0	GRIN2A	9765837	1.000000	0.71417	0.991000	0.47740	0.817000	0.46193	7.376000	0.79658	2.491000	0.84063	0.655000	0.94253	CGC		0.532	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			5	78	1	0	0.00116845	1	0.00131152	5	78					A	9858336	C	A	9858336	3	1	452	1	0	0	0	0	1	0	0	0	6779	768	27	5	1333	5	GRIN2A	16	9858336	Missense_Mutation	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08		9858336	80496417	36	30958											
ZP2	7783	broad.mit.edu	37	chr16	21209089	21209089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacattgaataaacttacctCgtgagccaacctcctcccct	12	10	4	15	1	0	2	0	2	0	0	3	2	2	2	6	0	5	0	6	0	6	3	rs190164659	byFrequency	TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr16:21209089C>T	ENST00000574002.1	-	19	2575	c.2093G>A	c.(2092-2094)cGa>cAa	p.R698Q	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.R689Q|ZP2_ENST00000219593.4_Missense_Mutation_p.R698Q			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	698					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AAACTTACCTCGTGAGCCAAC	0.483													C|||	2	0.000399361	8e-04	0.0014	5008	,	,		20604	0		0	False		,,,				2504	0					ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(2092-2094)cGa>cAa		zona pellucida glycoprotein 2 (sperm receptor)							179	149	159					16																	21209089		2200	4300	6500	SO:0001583	missense	7783				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	g.chr16:21209089C>T	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.2093G>A	16.37:g.21209089C>T	ENSP00000460971:p.Arg698Gln					ZP2_ENST00000574091.1_Missense_Mutation_p.R689Q|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.R698Q	p.R698Q			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	19	2575	-			698					B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.2093G>A	CCDS10596.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.071	0.381402	0.11466	.	.	ENSG00000103310	ENST00000219593	T	0.79033	-1.23	4.09	-8.18	0.01053	.	1.269890	0.05455	N	0.550178	T	0.58452	0.2123	L	0.34521	1.04	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.43750	-0.9372	10	0.11794	T	0.64	-0.3278	6.2233	0.20693	0.2237:0.1574:0.0:0.6189	.	689;698	Q4VAP1;Q05996	.;ZP2_HUMAN	Q	698	ENSP00000219593:R698Q	ENSP00000219593:R698Q	R	-	2	0	ZP2	21116590	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.177000	0.01261	-1.880000	0.01125	-2.835000	0.00106	CGA		0.483	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			4	38	0	0	0	1	0	4	38					T	21209089	C	T	21209089	3	4	452	1	0	0	0	0	1	0	0	0	18213	884	31	2	152	2	ZP2	16	21209089	Missense_Mutation	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08	11350753	21209089	69145664	37	30959											
ITGAX	3687	broad.mit.edu	37	chr16	31373161	31373161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatgccttcccccaggtacGgagaccacaagcagtagctc	10	7	9	15	1	1	1	1	0	0	1	3	2	2	1	4	2	4	4	4	2	3	3			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr16:31373161G>A	ENST00000268296.4	+	10	1138	c.1017G>A	c.(1015-1017)acG>acA	p.T339T	ITGAX_ENST00000562522.1_Silent_p.T339T	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	339	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.T339T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCCAGGTACGGAGACCACAA	0.577																																						ENST00000268296.4																			2	Substitution - coding silent(2)	p.T339T(2)	ovary(1)|large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1015-1017)acG>acA		integrin, alpha X (complement component 3 receptor 4 subunit)							134	114	121					16																	31373161		2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31373161G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1017G>A	16.37:g.31373161G>A						ITGAX_ENST00000562522.1_Silent_p.T339T	p.T339T	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			10	1138	+			339			VWFA.		Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.1017G>A	CCDS10711.1																																																																																				0.577	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		4	68	0	0	0	1	0	4	68					A	31373161	G	A	31373161	2	1	452	1	0	0	0	0	0	0	0	1	7889	1103	39	2		2	ITGAX	16	31373161	Silent	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08	10164072	31373161	58981592	38	30960											
NEURL4	84461	broad.mit.edu	37	chr17	7227518	7227519	+	Frame_Shift_Del	DEL	CT	CT	-																															acgttccaggcagcagggccCtgagtcatcccattgacaaa																										TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr17:7227518_7227519delCT	ENST00000399464.2	-	11	1985_1986	c.1970_1971delAG	c.(1969-1971)cagfs	p.Q657fs	NEURL4_ENST00000570460.1_Frame_Shift_Del_p.Q635fs|NEURL4_ENST00000315614.7_Frame_Shift_Del_p.Q657fs	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	657	NHR 3. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGCAGGGCCCTGAGTCATCCC	0.653											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1969-1971)cfs		neuralized E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	84461							g.chr17:7227518_7227519delCT		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1970_1971delAG	17.37:g.7227518_7227519delCT	ENSP00000382390:p.Gln657fs		OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	NEURL4_ENST00000570460.1_Frame_Shift_Del_p.Q635fs|NEURL4_ENST00000315614.7_Frame_Shift_Del_p.Q657fs	p.Q657fs	NM_032442.2	NP_115818.2					11	1985_1986	-								Q6GPI8|Q96IU9|Q9H0B0	Frame_Shift_Del	DEL	ENST00000399464.2	37	c.1970_1971delAG	CCDS42251.1																																																																																				0.653	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		7	57						7	57	---	---	---	---	-	7227519	CT	-	7227518	7	5	452	1	0	1	0	1	0	0	0	0	10347	680	24	0	2793	0	NEURL4	17	7227518	Frame_Shift_Del	DEL	CT	TCGA-YL-A8HO-01A-11D-A364-08		7227518	73967692	39	30961											
ZNF516	9658	broad.mit.edu	37	chr18	74091976	74091976	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacccgtctggccctccgcTcccgtactggaagggaactc	6	8	11	16	3	1	1	0	1	1	0	4	3	3	3	4	3	2	2	4	3	3	1			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr18:74091976T>A	ENST00000443185.2	-	4	2411	c.2094A>T	c.(2092-2094)ggA>ggT	p.G698G	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	698					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		GGCCCTCCGCTCCCGTACTGG	0.587																																						ENST00000443185.2																			0				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						c.(2092-2094)ggA>ggT		zinc finger protein 516							55	57	57					18																	74091976		1976	4169	6145	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091976T>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2094A>T	18.37:g.74091976T>A						ZNF516_ENST00000524431.2_5'UTR	p.G698G	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	2411	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	698						Silent	SNP	ENST00000443185.2	37	c.2094A>T																																																																																					0.587	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		6	36	0	0	0	1	0	6	36					A	74091976	T	A	74091976	2	1	452	1	0	0	0	0	0	0	0	1	17957	1538	54	5		5	ZNF516	18	74091976	Silent	SNP	T	TCGA-YL-A8HO-01A-11D-A364-08		74091976	3985272	40	30962											
SHD	56961	broad.mit.edu	37	chr19	4282875	4282875	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctccgcagctggaagcCgacactgagtatttagaccc	9	10	9	13	2	1	2	0	1	1	1	3	4	2	3	3	1	2	3	3	1	3	4	rs111528734		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr19:4282875C>T	ENST00000543264.2	+	2	1769	c.306C>T	c.(304-306)gcC>gcT	p.A102A	SHD_ENST00000599689.1_Silent_p.A102A	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	102										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGAAGCCGACACTGAGT	0.577																																						ENST00000543264.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14						c.(304-306)gcC>gcT		Src homology 2 domain containing transforming protein D							87	81	83					19																	4282875		2203	4300	6503	SO:0001819	synonymous_variant	56961							g.chr19:4282875C>T	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"SH2 domain containing"	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.306C>T	19.37:g.4282875C>T						SHD_ENST00000599689.1_Silent_p.A102A	p.A102A	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1769	+			102					Q96NC2	Silent	SNP	ENST00000543264.2	37	c.306C>T	CCDS12125.1																																																																																				0.577	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		17	43	0	0	0	1	0	17	43					T	4282875	C	T	4282875	2	4	452	1	0	0	0	0	0	0	0	1	14275	639	23	2		2	SHD	19	4282875	Silent	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08		4282875	54846108	41	30963											
ZNF563	147837	broad.mit.edu	37	chr19	12430555	12430555	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcttctccaggacaaatgCtgttgttcacaatactatct	11	14	6	10	0	4	0	1	0	3	0	5	2	4	1	1	1	2	3	1	1	4	5			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr19:12430555C>A	ENST00000293725.5	-	4	489	c.284G>T	c.(283-285)aGc>aTc	p.S95I	ZNF563_ENST00000595977.1_Missense_Mutation_p.S95I	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	95	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGGACAAATGCTGTTGTTCAC	0.398																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(283-285)aGc>aTc		zinc finger protein 563							196	182	186					19																	12430555		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430555C>A	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"Zinc fingers, C2H2-type", "-"	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.284G>T	19.37:g.12430555C>A	ENSP00000293725:p.Ser95Ile					ZNF563_ENST00000595977.1_Missense_Mutation_p.S95I	p.S95I	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	489	-			95			KRAB.		B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.284G>T	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383819	0.25031	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.14640	2.49	0.715	-0.657	0.11432	Krueppel-associated box (1);	.	.	.	.	T	0.07773	0.0195	N	0.08118	0	0.09310	N	0.999998	D;P	0.56287	0.975;0.725	P;B	0.47430	0.547;0.327	T	0.24621	-1.0155	9	0.49607	T	0.09	.	4.5201	0.11956	0.0:0.62:0.0:0.38	.	95;95	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	I	95	ENSP00000293725:S95I	ENSP00000293725:S95I	S	-	2	0	ZNF563	12291555	0.000000	0.05858	0.019000	0.16419	0.292000	0.27327	-0.134000	0.10436	-0.284000	0.09102	0.305000	0.20034	AGC		0.398	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		4	129	1	0	0.217242	1	0.22544	4	129					A	12430555	C	A	12430555	3	1	452	1	0	0	0	0	1	0	0	0	17991	797	28	5	1150	5	ZNF563	19	12430555	Missense_Mutation	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08	8147680	12430555	46698428	42	30964											
SIGLEC10	89790	broad.mit.edu	37	chr19	51918364	51918364	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcagcttcggggagtcTgaggggagggaggacaggac	9	4	19	9	1	1	1	0	1	1	0	2	6	1	6	1	7	2	2	1	7	0	1	rs562624986		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr19:51918364T>G	ENST00000339313.5	-	8	1447		c.e8-2		CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Splice_Site|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Splice_Site|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000525998.1_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCGGGGAGTCTGAGGGGAGGG	0.682																																						ENST00000356298.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.e8-2		sialic acid binding Ig-like lectin 10							23	25	24					19																	51918364		2202	4300	6502	SO:0001630	splice_region_variant	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51918364T>G	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1331-2A>C	19.37:g.51918364T>G						SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000339313.5_Splice_Site|SIGLEC10_ENST00000439889.2_Splice_Site|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000442846.3_Intron		NM_033130.4	NP_149121.2	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	8	1447	-		all_neural(266;0.0199)						A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Splice_Site	SNP	ENST00000339313.5	37		CCDS12832.1	.	.	.	.	.	.	.	.	.	.	T	7.442	0.640975	0.14386	.	.	ENSG00000142512	ENST00000356298;ENST00000439889;ENST00000339313	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7877	0.46415	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIGLEC10	56610176	1.000000	0.71417	0.426000	0.26672	0.061000	0.15899	3.682000	0.54656	1.813000	0.52934	0.459000	0.35465	.		0.682	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130	Intron	3	14	0	0	0	1	0	3	14					G	51918364	T	G	51918364	5	3	452	1	0	0	0	0	0	0	1	0	14306	1594	55	5	780	5	SIGLEC10	19	51918364	Splice_Site	SNP	T	TCGA-YL-A8HO-01A-11D-A364-08	39487809	51918364	7210619	43	30965											
TRIM28	10155	broad.mit.edu	37	chr19	59060745	59060745	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcctactgccactgaGggccctgagaccaaacctgt	8	7	9	17	0	0	2	0	2	0	1	1	3	1	2	7	1	3	0	7	1	2	1	rs373664048		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr19:59060745G>A	ENST00000253024.5	+	13	1999	c.1710G>A	c.(1708-1710)gaG>gaA	p.E570E	TRIM28_ENST00000341753.6_Silent_p.E488E	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	570					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTGCCACTGAGGGCCCTGAGA	0.637																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(1708-1710)gaG>gaA		tripartite motif containing 28				0,4406		0,0,2203	112	123	119		1710	-1.6	0.5	19		119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIM28	NM_005762.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		570/836	59060745	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59060745G>A		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	16384	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 157"	601742	"tripartite motif-containing 28"			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1710G>A	19.37:g.59060745G>A						TRIM28_ENST00000341753.6_Silent_p.E488E	p.E570E	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		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)	13	1999	+		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)	570					O00677|Q7Z632|Q93040|Q96IM1	Silent	SNP	ENST00000253024.5	37	c.1710G>A	CCDS12985.1																																																																																				0.637	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		33	76	0	0	0	1	0	33	76					A	59060745	G	A	59060745	2	1	452	1	0	0	0	0	0	0	0	1	16499	991	35	3		3	TRIM28	19	59060745	Silent	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08	7142381	59060745	68238	44	30966											
SIRPB1	10326	broad.mit.edu	37	chr20	1592130	1592130	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactgatgcggatggaaaaGtccatgttgtttctctttgt	8	17	10	6	1	1	1	0	1	1	0	3	3	2	3	1	2	2	2	1	2	3	4			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr20:1592130G>A	ENST00000381605.4	-	1	141				SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Silent_p.D102D|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000279477.7_Silent_p.D102D|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGATGGAAAAGTCCATGTTGT	0.512																																						ENST00000279477.7																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(304-306)gaC>gaT		signal-regulatory protein beta 1							113	128	124					20																	1592130		446	1341	1787	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1592130G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8384C>T	20.37:g.1592130G>A						SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Silent_p.D102D|RP4-576H24.4_ENST00000564763.1_Intron	p.D102D	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			2	370	-			102	D -> N (in Ref. 1; CAA71404).		Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.306C>T	CCDS13019.1																																																																																				0.512	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		13	14	0	0	0	1	0	13	14					A	1592130	G	A	1592130	1	1	452	0	1	0	0	0	0	0	0	0	14333	1020	36	3		3	SIRPB1	20	1592130	Intron	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08		1592130	61433390	45	30967											
CYP2D6	1565	broad.mit.edu	37	chr22	42525129	42525129	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcccaagttgcgcaaggtGgagacggagaagcgcctctg	10	5	16	10	3	1	2	0	0	1	2	1	4	1	2	2	4	2	2	2	4	3	1			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr22:42525129G>T	ENST00000360608.5	-	3	525	c.411C>A	c.(409-411)tcC>tcA	p.S137S	NDUFA6-AS1_ENST00000608288.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.S137S|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Intron|NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	137					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TGCGCAAGGTGGAGACGGAGA	0.687																																						ENST00000360608.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(409-411)tcC>tcA		cytochrome P450, family 2, subfamily D, polypeptide 6							23	28	27					22																	42525129		2035	4163	6198	SO:0001819	synonymous_variant	1565						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	g.chr22:42525129G>T	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"Cytochrome P450s"	2625	protein-coding gene	gene with protein product		124030	"cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6", "cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2", "cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2", "cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2", "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.411C>A	22.37:g.42525129G>T						CYP2D6_ENST00000359033.4_Intron|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.S137S	p.S137S	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN			3	525	-			137					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	ENST00000360608.5	37	c.411C>A	CCDS46721.1																																																																																				0.687	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			3	33	1	0	0.004672	1	0.0051392	3	33					T	42525129	G	T	42525129	2	4	452	1	0	0	0	0	0	0	0	1	4169	1335	47	5		5	CYP2D6	22	42525129	Silent	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08		42525129	8779437	46	30968											
MXRA5	25878	broad.mit.edu	37	chrX	3240572	3240572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttttaatcagtaaggtgtCttgagtgcttagactacttt	9	18	8	6	0	2	2	1	1	1	1	2	2	2	2	0	1	2	2	0	1	4	8			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chrX:3240572C>T	ENST00000217939.6	-	5	3308	c.3154G>A	c.(3154-3156)Gac>Aac	p.D1052N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1052						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGTAAGGTGTCTTGAGTGCTT	0.458																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(3154-3156)Gac>Aac		matrix-remodelling associated 5							173	151	159					X																	3240572		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240572C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3154G>A	X.37:g.3240572C>T	ENSP00000217939:p.Asp1052Asn						p.D1052N	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	3308	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1052					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3154G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	0.387	-0.925343	0.02377	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64991	-0.13	3.29	1.15	0.20763	.	1.143940	0.06774	U	0.784023	T	0.39172	0.1068	N	0.19112	0.55	0.09310	N	1	B	0.29432	0.244	B	0.24006	0.05	T	0.18871	-1.0323	10	0.06494	T	0.89	.	5.9233	0.19094	0.0:0.5163:0.3653:0.1184	.	1052	Q9NR99	MXRA5_HUMAN	N	1052	ENSP00000217939:D1052N	ENSP00000217939:D1052N	D	-	1	0	MXRA5	3250572	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.455000	0.21843	0.390000	0.25115	0.522000	0.50473	GAC		0.458	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		6	33	0	0	0	1	0	6	33					T	3240572	C	T	3240572	3	4	452	1	0	0	0	0	1	0	0	0	10003	913	32	3	5344	3	MXRA5	23	3240572	Missense_Mutation	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08		3240572	152029988	47	30969											
CTPS2	56474	broad.mit.edu	37	chrX	16707690	16707690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctaaaagcacaggaactCggtatgtggaagaaacatca	16	7	9	9	1	2	1	1	0	1	1	3	3	2	3	1	3	3	2	1	3	6	2			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chrX:16707690C>A	ENST00000443824.1	-	8	1498	c.755G>T	c.(754-756)cGa>cTa	p.R252L	CTPS2_ENST00000380241.3_Missense_Mutation_p.R252L|CTPS2_ENST00000359276.4_Missense_Mutation_p.R252L	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	252					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					CACAGGAACTCGGTATGTGGA	0.388																																						ENST00000443824.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(754-756)cGa>cTa		CTP synthase 2							125	109	115					X																	16707690		2203	4300	6503	SO:0001583	missense	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16707690C>A	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"CTP synthase II"			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.755G>T	X.37:g.16707690C>A	ENSP00000401264:p.Arg252Leu					CTPS2_ENST00000359276.4_Missense_Mutation_p.R252L|CTPS2_ENST00000380241.3_Missense_Mutation_p.R252L	p.R252L	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN			8	1498	-	Hepatocellular(33;0.0997)		252					B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	c.755G>T	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	c	20.5	3.999693	0.74818	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	T;T;T	0.44083	0.93;0.93;0.93	5.81	4.95	0.65309	CTP synthase, N-terminal (1);	0.112886	0.39615	N	0.001309	T	0.58395	0.2119	L	0.56199	1.76	0.53688	D	0.999976	D	0.58620	0.983	D	0.66847	0.947	T	0.60757	-0.7200	10	0.66056	D	0.02	-7.4482	14.1151	0.65149	0.0:0.9264:0.0:0.0736	.	252	Q9NRF8	PYRG2_HUMAN	L	252	ENSP00000401264:R252L;ENSP00000369590:R252L;ENSP00000352222:R252L	ENSP00000352222:R252L	R	-	2	0	CTPS2	16617611	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	3.683000	0.54663	1.227000	0.43598	-0.203000	0.12734	CGA		0.388	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		23	16	1	0	5.45024e-15	1	6.8128e-15	23	16					A	16707690	C	A	16707690	3	1	452	1	0	0	0	0	1	0	0	0	4023	884	31	5	1049	5	CTPS2	23	16707690	Missense_Mutation	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08	13467118	16707690	138562870	48	30970											
MAP7D3	79649	broad.mit.edu	37	chrX	135314095	135314095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcgacacgtccacgctcaCcacagggaatgagtccgtgc	10	5	12	14	4	1	1	1	1	0	0	3	3	3	2	3	2	1	1	3	2	1	0			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chrX:135314095C>A	ENST00000316077.9	-	8	1241	c.1021G>T	c.(1021-1023)Gtg>Ttg	p.V341L	MAP7D3_ENST00000370663.5_Missense_Mutation_p.V323L|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370661.1_Missense_Mutation_p.V306L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	341					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				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)					TCCACGCTCACCACAGGGAAT	0.572																																						ENST00000316077.9																			0				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						c.(1021-1023)Gtg>Ttg		MAP7 domain containing 3							110	113	112					X																	135314095		2185	4251	6436	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135314095C>A	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1021G>T	X.37:g.135314095C>A	ENSP00000318086:p.Val341Leu					MAP7D3_ENST00000370661.1_Missense_Mutation_p.V306L|MAP7D3_ENST00000370663.5_Missense_Mutation_p.V323L	p.V341L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1241	-	Acute lymphoblastic leukemia(192;0.000127)		341					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.1021G>T	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287057	0.23478	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	4.19	3.31	0.37934	.	.	.	.	.	T	0.07908	0.0198	L	0.38175	1.15	0.09310	N	1	B;B;B;B	0.18013	0.025;0.021;0.005;0.004	B;B;B;B	0.23852	0.031;0.049;0.01;0.022	T	0.36311	-0.9753	9	0.24483	T	0.36	-0.2888	9.9478	0.41621	0.0:0.8906:0.0:0.1094	.	323;300;341;306	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	L	306;341;323;300	ENSP00000359695:V306L;ENSP00000318086:V341L;ENSP00000359697:V323L;ENSP00000359694:V300L	ENSP00000318086:V341L	V	-	1	0	MAP7D3	135141761	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.235000	0.09016	0.840000	0.34995	0.600000	0.82982	GTG		0.572	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			8	35	1	0	0.0477658	1	0.0515121	8	35					A	135314095	C	A	135314095	3	1	452	1	0	0	0	0	1	0	0	0	9269	507	18	5	1653	5	MAP7D3	23	135314095	Missense_Mutation	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08	118606405	135314095	19956465	49	30971											
DDX3Y	8653	broad.mit.edu	37	chrY	15023867	15023867	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttcagtgaacgtggaagtGgatcaaggggaaggtaaatc	14	9	14	4	1	2	1	2	1	0	0	3	4	2	4	0	5	1	1	0	5	6	2			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chrY:15023867G>T	ENST00000336079.3	+	4	374	c.268G>T	c.(268-270)Gga>Tga	p.G90*	DDX3Y_ENST00000360160.4_Nonsense_Mutation_p.G90*	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	90						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						ACGTGGAAGTGGATCAAGGGG	0.393																																						ENST00000336079.3																			0				kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(268-270)Gga>Tga		DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked																																				SO:0001587	stop_gained	8653					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	g.chrY:15023867G>T	AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"DEAD-boxes"	2699	protein-coding gene	gene with protein product		400010	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.268G>T	Y.37:g.15023867G>T	ENSP00000336725:p.Gly90*					DDX3Y_ENST00000360160.4_Nonsense_Mutation_p.G90*	p.G90*	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN			4	374	+			90					B4DK29|B4DXX7|Q8IYV7	Nonsense_Mutation	SNP	ENST00000336079.3	37	c.268G>T	CCDS14782.1																																																																																				0.393	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1	NM_004660		8	51	1	0	7.48243e-07	1	8.94638e-07	8	51					T	15023867	G	T	15023867	4	4	452	1	0	0	0	0	0	1	0	0	4359	1349	47	5	282	5	DDX3Y	24	15023867	Nonsense_Mutation	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08		15023867	44349699	50	30972											
CHD5	26038	broad.mit.edu	37	chr1	6206323	6206323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actctggcttgatgccatagCggtagaagcgctcctccatc	8	10	10	13	2	1	2	0	1	1	1	4	2	3	2	3	2	3	3	3	2	3	3	rs141210110		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:6206323C>T	ENST00000262450.3	-	11	1850	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				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)		GATGCCATAGCGGTAGAAGCG	0.607																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(1750-1752)cGc>cAc		chromodomain helicase DNA binding protein 5		C	HIS/ARG	0,4406		0,0,2203	146	145	145		1751	3.8	1	1	dbSNP_134	145	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CHD5	NM_015557.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	584/1955	6206323	2,13004	2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6206323C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1751G>A	1.37:g.6206323C>T	ENSP00000262450:p.Arg584His					CHD5_ENST00000378021.1_5'UTR	p.R584H	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		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)	11	1850	-	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)	584					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.1751G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686569	0.88639	0.0	2.33E-4	ENSG00000116254	ENST00000262450;ENST00000378006	T	0.72725	-0.68	3.85	3.85	0.44370	Chromo domain-like (1);	0.000000	0.85682	D	0.000000	D	0.85414	0.5691	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.88972	0.3401	10	0.87932	D	0	-21.9232	16.3262	0.82983	0.0:1.0:0.0:0.0	.	584	Q8TDI0	CHD5_HUMAN	H	584;100	ENSP00000262450:R584H	ENSP00000262450:R584H	R	-	2	0	CHD5	6128910	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.558000	0.82253	2.138000	0.66242	0.462000	0.41574	CGC		0.607	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		30	61	0	0	0	1	0	30	61					T	6206323	C	T	6206323	3	4	453	1	0	0	0	0	1	0	0	0	3328	768	27	1	4237	1	CHD5	1	6206323	Missense_Mutation	SNP	C	TCGA-YL-A8S8-01A-11D-A377-08		6206323	243044298	1	30973											
CDC20	991	broad.mit.edu	37	chr1	43825955	43825955	+	Frame_Shift_Del	DEL	C	C	-																															agtgcaagctctggtgacatCctgcagcttttgcaaatgga																										TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:43825955delC	ENST00000372462.1	+	5	851	c.648delC	c.(646-648)atcfs	p.I216fs	CDC20_ENST00000478882.1_3'UTR|CDC20_ENST00000310955.6_Frame_Shift_Del_p.I216fs|RP1-92O14.3_ENST00000424948.1_RNA			Q12834	CDC20_HUMAN	cell division cycle 20	216					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGGTGACATCCTGCAGCTTT	0.537																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)	ENST00000372462.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(646-648)atfs		cell division cycle 20							132	129	130					1																	43825955		2203	4300	6503	SO:0001589	frameshift_variant	991				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	g.chr1:43825955delC	U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"WD repeat domain containing"	1723	protein-coding gene	gene with protein product		603618	"CDC20 (cell division cycle 20, S. cerevisiae, homolog)", "CDC20 cell division cycle 20 homolog (S. cerevisiae)", "cell division cycle 20 homolog (S. cerevisiae)"			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.648delC	1.37:g.43825955delC	ENSP00000361540:p.Ile216fs					CDC20_ENST00000478882.1_3'UTR|CDC20_ENST00000310955.6_Frame_Shift_Del_p.I216fs	p.I216fs			Q12834	CDC20_HUMAN			5	851	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	216					B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Frame_Shift_Del	DEL	ENST00000372462.1	37	c.648delC	CCDS484.1																																																																																				0.537	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		26	46						26	46	---	---	---	---	-	43825955	C	-	43825955	7	5	453	1	0	1	0	1	0	0	0	0	3059	845	30	0	666	0	CDC20	1	43825955	Frame_Shift_Del	DEL	C	TCGA-YL-A8S8-01A-11D-A377-08	37619632	43825955	205424666	2	30974											
AMPD1	270	broad.mit.edu	37	chr1	115222328	115222328	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgccggtgggtataggtctTactgtgaaaaataaaatcac	13	10	11	7	2	2	1	1	1	1	0	2	1	2	1	1	3	1	1	1	3	7	4			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:115222328T>C	ENST00000520113.2	-	7	883	c.868A>G	c.(868-870)Aag>Gag	p.K290E	AMPD1_ENST00000353928.6_Splice_Site_p.K257E|AMPD1_ENST00000369538.3_Splice_Site_p.K286E			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	290					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GTATAGGTCTTACTGTGAAAA	0.398																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.e6-1		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						81	88	85					1																	115222328		2203	4300	6503	SO:0001630	splice_region_variant	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115222328T>C	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.867-1A>G	1.37:g.115222328T>C						AMPD1_ENST00000353928.6_Splice_Site_p.K257_splice|AMPD1_ENST00000520113.2_Splice_Site_p.K290_splice	p.K286_splice	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		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)	6	903	-	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)	257					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Splice_Site	SNP	ENST00000520113.2	37	c.854_splice	CCDS876.2	.	.	.	.	.	.	.	.	.	.	T	33	5.238876	0.95240	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.85556	-2.0;-2.0;-2.0	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.92825	0.7718	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.99;0.987	D	0.94220	0.7466	10	0.87932	D	0	-25.1626	16.1485	0.81594	0.0:0.0:0.0:1.0	.	286;257	Q5TF02;P23109	.;AMPD1_HUMAN	E	290;286;257	ENSP00000430075:K290E;ENSP00000358551:K286E;ENSP00000316520:K257E	ENSP00000316520:K257E	K	-	1	0	AMPD1	115023851	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.997000	0.88414	2.281000	0.76405	0.533000	0.62120	AAG		0.398	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4		Missense_Mutation	32	64	0	0	0	1	0	32	64					C	115222328	T	C	115222328	5	2	453	1	0	0	0	0	0	0	1	0	585	1768	61	4	1514	4	AMPD1	1	115222328	Splice_Site	SNP	T	TCGA-YL-A8S8-01A-11D-A377-08	71396373	115222328	134028293	3	30975											
SCNM1	79005	broad.mit.edu	37	chr1	151139435	151139435	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgtgccatctgcccccatCgaccggtactggacaccctg	6	9	9	17	2	1	0	0	0	1	0	2	2	1	1	5	2	3	1	5	2	1	2			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:151139435C>T	ENST00000368905.4	+	3	259	c.148C>T	c.(148-150)Cga>Tga	p.R50*	SCNM1_ENST00000461862.1_3'UTR|LYSMD1_ENST00000440902.2_5'Flank|LYSMD1_ENST00000368908.5_5'Flank	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	50					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	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)			CTGCCCCCATCGACCGGTACT	0.592																																						ENST00000368905.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(148-150)Cga>Tga		sodium channel modifier 1							91	73	79					1																	151139435		2203	4300	6503	SO:0001587	stop_gained	79005				mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding	g.chr1:151139435C>T	BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258	ENST00000368905.4:c.148C>T	1.37:g.151139435C>T	ENSP00000357901:p.Arg50*					SCNM1_ENST00000461862.1_3'UTR	p.R50*	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	259	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		50					B4DWR1|Q5JR74	Nonsense_Mutation	SNP	ENST00000368905.4	37	c.148C>T	CCDS987.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134637	0.94517	.	.	ENSG00000163156	ENST00000368905;ENST00000368902	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4498	17.5684	0.87927	0.0:1.0:0.0:0.0	.	.	.	.	X	50;15	.	ENSP00000357898:R15X	R	+	1	2	SCNM1	149406059	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.883000	0.69721	2.748000	0.94277	0.462000	0.41574	CGA		0.592	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034064.2	NM_024041		10	30	0	0	0	1	0	10	30					T	151139435	C	T	151139435	4	4	453	1	0	0	0	0	0	1	0	0	13926	876	31	2	158	2	SCNM1	1	151139435	Nonsense_Mutation	SNP	C	TCGA-YL-A8S8-01A-11D-A377-08	35917107	151139435	98111186	4	30976											
RUSC1	23623	broad.mit.edu	37	chr1	155296881	155296881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagactatttggagtgcCtgggggccccgcagaaaatg	10	7	16	8	1	0	2	0	0	0	2	0	4	0	4	3	4	1	1	3	4	4	2			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:155296881C>T	ENST00000368352.5	+	8	2523	c.2372C>T	c.(2371-2373)cCt>cTt	p.P791L	RUSC1_ENST00000292254.4_Missense_Mutation_p.P322L|RUSC1_ENST00000462780.1_3'UTR|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.P685L|RUSC1_ENST00000368347.4_Missense_Mutation_p.P381L|RUSC1_ENST00000368349.4_Missense_Mutation_p.P322L|RUSC1-AS1_ENST00000443642.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	791					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TTTGGAGTGCCTGGGGGCCCC	0.562																																						ENST00000368352.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(2371-2373)cCt>cTt		RUN and SH3 domain containing 1							41	50	47					1																	155296881		2160	4274	6434	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155296881C>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2372C>T	1.37:g.155296881C>T	ENSP00000357336:p.Pro791Leu					RUSC1_ENST00000368354.3_Missense_Mutation_p.P685L|RUSC1_ENST00000368349.4_Missense_Mutation_p.P322L|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Missense_Mutation_p.P322L|RUSC1_ENST00000368347.4_Missense_Mutation_p.P381L	p.P791L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	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)		8	2523	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		791					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.2372C>T	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257787	0.39896	.	.	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.32023	1.92;1.9;1.47;1.49;1.49	4.9	3.99	0.46301	.	33.929500	0.00520	N	0.000191	T	0.34948	0.0915	L	0.57536	1.79	0.43050	D	0.994652	B;P;B;D;P;B;B	0.57257	0.418;0.554;0.418;0.979;0.736;0.128;0.22	B;B;B;P;B;B;B	0.54270	0.069;0.145;0.069;0.747;0.159;0.046;0.05	T	0.14008	-1.0488	10	0.66056	D	0.02	-7.4468	10.5429	0.45043	0.0:0.9092:0.0:0.0908	.	289;322;322;216;381;290;791	B4DQB8;Q9BVN2-2;Q5T9U9;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;.;RUSC1_HUMAN	L	685;791;381;322;322	ENSP00000357338:P685L;ENSP00000357336:P791L;ENSP00000357331:P381L;ENSP00000357333:P322L;ENSP00000292254:P322L	ENSP00000292254:P322L	P	+	2	0	RUSC1	153563505	0.442000	0.25633	0.976000	0.42696	0.008000	0.06430	0.970000	0.29383	1.439000	0.47511	-0.218000	0.12543	CCT		0.562	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			20	41	0	0	0	1	0	20	41					T	155296881	C	T	155296881	3	4	453	1	0	0	0	0	1	0	0	0	13750	681	24	3	2529	3	RUSC1	1	155296881	Missense_Mutation	SNP	C	TCGA-YL-A8S8-01A-11D-A377-08	4157446	155296881	93953740	5	30977											
TNNI1	7135	broad.mit.edu	37	chr1	201380592	201380592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggcgtcagccgagacacGgactcgacgcaggggcgggc	8	3	17	13	6	1	1	1	0	0	1	2	4	1	2	1	5	1	1	1	5	0	0			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:201380592G>A	ENST00000361379.4	-	7	441	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	TNNI1_ENST00000336092.4_Missense_Mutation_p.R117C|TNNI1_ENST00000367312.1_Missense_Mutation_p.R117C|TNNI1_ENST00000555948.1_Intron	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	117	Involved in binding TNC and actin.				muscle filament sliding (GO:0030049)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|troponin complex (GO:0005861)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						GCCGAGACACGGACTCGACGC	0.617																																						ENST00000361379.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						c.(349-351)Cgt>Tgt		troponin I type 1 (skeletal, slow)							62	58	60					1																	201380592		2203	4300	6503	SO:0001583	missense	7135				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding	g.chr1:201380592G>A	BC012600	CCDS1411.1	1q31.3	2008-02-05	2005-09-12		ENSG00000159173	ENSG00000159173			11945	protein-coding gene	gene with protein product		191042	"troponin I, skeletal, slow"			2365354, 8144655	Standard	NM_003281		Approved		uc021phd.1	P19237	OTTHUMG00000035736	ENST00000361379.4:c.349C>T	1.37:g.201380592G>A	ENSP00000354488:p.Arg117Cys					TNNI1_ENST00000555948.1_Intron|TNNI1_ENST00000336092.4_Missense_Mutation_p.R117C|TNNI1_ENST00000367312.1_Missense_Mutation_p.R117C	p.R117C	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN			7	441	-			117			Involved in binding TNC and actin.		A6NEH3|A8MSJ0|Q659A5|Q6FGS7|Q6FGW1|Q6ICU2|Q86T57|Q96DT9	Missense_Mutation	SNP	ENST00000361379.4	37	c.349C>T	CCDS1411.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016081	0.75161	.	.	ENSG00000159173	ENST00000358712;ENST00000361379;ENST00000336092;ENST00000413495;ENST00000367312;ENST00000555340;ENST00000556362	D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.97288	0.9113	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98402	1.0568	10	0.87932	D	0	-11.663	17.5629	0.87912	0.0:0.0:1.0:0.0	.	117	P19237	TNNI1_HUMAN	C	117;117;117;117;117;96;117	ENSP00000354488:R117C;ENSP00000337022:R117C;ENSP00000356281:R117C;ENSP00000451660:R96C;ENSP00000451776:R117C	ENSP00000337022:R117C	R	-	1	0	TNNI1	199647215	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	3.661000	0.54503	2.141000	0.66446	0.561000	0.74099	CGT		0.617	TNNI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087001.1	NM_003281		12	13	0	0	0	1	0	12	13					A	201380592	G	A	201380592	3	1	453	1	0	0	0	0	1	0	0	0	16323	1116	39	2	222	2	TNNI1	1	201380592	Missense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08	46083711	201380592	47870029	6	30978											
NSL1	25936	broad.mit.edu	37	chr1	212964929	212964930	+	Frame_Shift_Ins	INS	-	-	TT																															ccggcagagcgtccccgagcINSttttgcacgaagcggccgca																										TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:212964929_212964930insTT	ENST00000366977.3	-	1	194_195	c.176_177insAA	c.(175-177)aagfs	p.K59fs	TATDN3_ENST00000526641.1_5'Flank|TATDN3_ENST00000366974.4_5'Flank|NSL1_ENST00000366975.6_Frame_Shift_Ins_p.K59fs|TATDN3_ENST00000366973.4_5'Flank|TATDN3_ENST00000532324.1_5'Flank|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000422588.2_Frame_Shift_Ins_p.K59fs|NSL1_ENST00000366978.1_5'Flank|TATDN3_ENST00000526997.1_5'Flank|TATDN3_ENST00000530441.1_5'Flank|TATDN3_ENST00000531963.1_5'Flank|NSL1_ENST00000366976.1_Frame_Shift_Ins_p.K59fs	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	59					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				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)		CGTCCCCGAGCTTTTGCACGAA	0.609																																						ENST00000366977.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9						c.(175-177)actfs		NSL1, MIS12 kinetochore complex component																																				SO:0001589	frameshift_variant	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212964929_212964930insTT	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"chromosome 1 open reading frame 48", "NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.175_176dupAA	1.37:g.212964932_212964933dupTT	ENSP00000355944:p.Lys59fs					NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366975.6_Frame_Shift_Ins_p.T59fs|NSL1_ENST00000422588.2_Frame_Shift_Ins_p.T59fs|NSL1_ENST00000366976.1_Frame_Shift_Ins_p.T59fs	p.T59fs	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	1	194_195	-			59					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Frame_Shift_Ins	INS	ENST00000366977.3	37	c.176_177insAA	CCDS1509.1																																																																																				0.609	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		32	165						32	165	---	---	---	---	TT	212964930	-	TT	212964929	7	5	453	1	0	1	1	0	0	0	0	0	10673	796	28	0	781	0	NSL1	1	212964929	Frame_Shift_Ins	INS	-	TCGA-YL-A8S8-01A-11D-A377-08	11584337	212964929	36285692	7	30979											
ARF1	375	broad.mit.edu	37	chr1	228284842	228284842	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatcttcgccaacctcttCaagggcctttttggcaaaaa	12	11	6	12	1	3	0	1	0	2	0	4	0	3	0	3	2	2	1	3	2	5	4			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:228284842C>T	ENST00000541182.1	+	2	289	c.27C>T	c.(25-27)ttC>ttT	p.F9F	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Silent_p.F9F|ARF1_ENST00000540651.1_Silent_p.F9F|MIR3620_ENST00000584469.1_RNA	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	9					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCAACCTCTTCAAGGGCCTTT	0.542																																						ENST00000541182.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10						c.(25-27)ttC>ttT		ADP-ribosylation factor 1							118	98	105					1																	228284842		2203	4300	6503	SO:0001819	synonymous_variant	375				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	g.chr1:228284842C>T	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"ADP-ribosylation factors", "Endogenous ligands"	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.27C>T	1.37:g.228284842C>T						ARF1_ENST00000272102.5_Silent_p.F9F|ARF1_ENST00000540651.1_Silent_p.F9F|ARF1_ENST00000478424.1_3'UTR	p.F9F	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN			2	289	+		Prostate(94;0.0405)	9					P10947|P32889	Silent	SNP	ENST00000541182.1	37	c.27C>T	CCDS1565.1																																																																																				0.542	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		28	68	0	0	0	1	0	28	68					T	228284842	C	T	228284842	2	4	453	1	0	0	0	0	0	0	0	1	844	825	29	3		3	ARF1	1	228284842	Silent	SNP	C	TCGA-YL-A8S8-01A-11D-A377-08	15319913	228284842	20965779	8	30980											
MYT1L	23040	broad.mit.edu	37	chr2	1926342	1926342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgacacccatcctccttcGcacagctggcaaacactctc	10	8	5	18	1	1	1	0	1	1	0	5	1	3	1	3	1	2	3	3	1	1	1			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr2:1926342G>A	ENST00000399161.2	-	10	1946	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V	MYT1L_ENST00000428368.2_Missense_Mutation_p.A400V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	400					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			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)		ATCCTCCTTCGCACAGCTGGC	0.592																																						ENST00000399161.2																			0				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						c.(1198-1200)gCg>gTg		myelin transcription factor 1-like							54	55	54					2																	1926342		2144	4248	6392	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926342G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1199C>T	2.37:g.1926342G>A	ENSP00000382114:p.Ala400Val					MYT1L_ENST00000428368.2_Missense_Mutation_p.A400V	p.A400V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1946	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	400					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1199C>T		.	.	.	.	.	.	.	.	.	.	G	15.21	2.765325	0.49574	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.49139	0.79;0.82	5.97	5.1	0.69264	.	0.125428	0.52532	D	0.000069	T	0.36799	0.0980	L	0.27053	0.805	0.58432	D	0.999999	B;B	0.21821	0.036;0.061	B;B	0.15052	0.005;0.012	T	0.10268	-1.0637	10	0.39692	T	0.17	-30.9306	15.482	0.75534	0.0663:0.0:0.9337:0.0	.	400;400	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	V	400;348;400	ENSP00000382114:A400V;ENSP00000396103:A400V	ENSP00000295067:A348V	A	-	2	0	MYT1L	1905349	1.000000	0.71417	0.548000	0.28192	0.232000	0.25224	5.384000	0.66225	1.540000	0.49301	0.655000	0.94253	GCG		0.592	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		33	14	0	0	0	1	0	33	14					A	1926342	G	A	1926342	3	1	453	1	0	0	0	0	1	0	0	0	10107	1087	38	1	2419	1	MYT1L	2	1926342	Missense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08		1926342	241273031	9	30981											
GALNT14	79623	broad.mit.edu	37	chr2	31155004	31155004	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggaagacgtgccccactcGgctgcaggggacgatctcta	8	6	13	14	4	1	1	0	0	1	1	3	4	1	3	3	4	2	2	3	4	2	1			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr2:31155004G>A	ENST00000349752.5	-	10	1627	c.988C>T	c.(988-990)Cga>Tga	p.R330*	GALNT14_ENST00000324589.5_Nonsense_Mutation_p.R335*|GALNT14_ENST00000356174.3_Nonsense_Mutation_p.R297*|GALNT14_ENST00000420311.2_Nonsense_Mutation_p.R295*|GALNT14_ENST00000406653.1_Nonsense_Mutation_p.R310*|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	330	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			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)					TGCCCCACTCGGCTGCAGGGG	0.577																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(988-990)Cga>Tga		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							96	89	91					2																	31155004		2203	4300	6503	SO:0001587	stop_gained	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31155004G>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.988C>T	2.37:g.31155004G>A	ENSP00000288988:p.Arg330*					GALNT14_ENST00000324589.5_Nonsense_Mutation_p.R335*|GALNT14_ENST00000420311.2_Nonsense_Mutation_p.R295*|GALNT14_ENST00000406653.1_Nonsense_Mutation_p.R310*|GALNT14_ENST00000356174.3_Nonsense_Mutation_p.R297*|GALNT14_ENST00000486564.1_5'UTR	p.R330*	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			10	1627	-	Acute lymphoblastic leukemia(172;0.155)		330			Catalytic subdomain B.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Nonsense_Mutation	SNP	ENST00000349752.5	37	c.988C>T	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	G	35	5.490456	0.96339	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	.	.	.	4.98	2.05	0.26809	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8242	0.63340	0.0:0.0:0.6012:0.3988	.	.	.	.	X	330;335;310;297;295;297	.	ENSP00000314500:R335X	R	-	1	2	GALNT14	31008508	1.000000	0.71417	0.981000	0.43875	0.964000	0.63967	2.440000	0.44855	0.111000	0.17947	-0.310000	0.09108	CGA		0.577	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		20	38	0	0	0	1	0	20	38					A	31155004	G	A	31155004	4	1	453	1	0	0	0	0	0	1	0	0	6212	1124	39	2	694	2	GALNT14	2	31155004	Nonsense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08	29228662	31155004	212044369	10	30982											
LOXL3	84695	broad.mit.edu	37	chr2	74762802	74762802	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtcatccccacagatgagGccccagcgaaggggcccagg	10	3	13	15	1	1	2	1	1	0	1	2	3	2	2	5	4	1	0	5	4	1	0			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr2:74762802G>A	ENST00000264094.3	-	8	1400	c.1329C>T	c.(1327-1329)ggC>ggT	p.G443G	LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000393937.2_Silent_p.G298G|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409986.1_Silent_p.G298G	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	443	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CACAGATGAGGCCCCAGCGAA	0.642																																						ENST00000264094.3																			0				endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1327-1329)ggC>ggT		lysyl oxidase-like 3							55	66	62					2																	74762802		2203	4300	6503	SO:0001819	synonymous_variant	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74762802G>A	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1329C>T	2.37:g.74762802G>A						LOXL3_ENST00000409986.1_Silent_p.G298G|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000393937.2_Silent_p.G298G	p.G443G	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN			8	1400	-			443			SRCR 4.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	37	c.1329C>T	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	G	7.168	0.587036	0.13749	.	.	ENSG00000115318	ENST00000420535	.	.	.	5.02	-0.991	0.10235	.	.	.	.	.	T	0.39860	0.1094	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25222	-1.0138	4	.	.	.	.	1.4819	0.02438	0.4103:0.138:0.3099:0.1418	.	.	.	.	S	170	.	.	P	-	1	0	LOXL3	74616310	0.001000	0.12720	0.996000	0.52242	0.984000	0.73092	-0.646000	0.05403	-0.084000	0.12595	-0.253000	0.11424	CCT		0.642	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		45	54	0	0	0	1	0	45	54					A	74762802	G	A	74762802	2	1	453	1	0	0	0	0	0	0	0	1	8901	1190	42	3		3	LOXL3	2	74762802	Silent	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08	43607798	74762802	168436571	11	30983											
FANCD2	2177	broad.mit.edu	37	chr3	10128872	10128872	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcattcccagtttccagtgTgctctttatctcatcagact	8	15	6	12	0	3	1	2	0	2	1	6	1	5	1	2	0	2	3	2	0	1	4			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr3:10128872T>A	ENST00000419585.1	+	34	3551	c.3390T>A	c.(3388-3390)tgT>tgA	p.C1130*	FANCD2_ENST00000383807.1_Nonsense_Mutation_p.C1130*|FANCD2OS_ENST00000436517.1_5'UTR|FANCD2_ENST00000383806.1_Nonsense_Mutation_p.C1130*|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000287647.3_Nonsense_Mutation_p.C1130*			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1130					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GTTTCCAGTGTGCTCTTTATC	0.378			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(3388-3390)tgT>tgA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							200	196	197					3																	10128872		2203	4300	6503	SO:0001587	stop_gained	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10128872T>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3390T>A	3.37:g.10128872T>A	ENSP00000398754:p.Cys1130*					FANCD2OS_ENST00000436517.1_5'UTR|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383807.1_Nonsense_Mutation_p.C1130*|FANCD2_ENST00000419585.1_Nonsense_Mutation_p.C1130*|FANCD2_ENST00000383806.1_Nonsense_Mutation_p.C1130*	p.C1130*	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	34	3483	+			1130					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Nonsense_Mutation	SNP	ENST00000419585.1	37	c.3390T>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	T	42	9.335017	0.99140	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	.	.	.	5.54	5.54	0.83059	.	0.203832	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1371	0.53977	0.0:0.0:0.0:1.0	.	.	.	.	X	1130	.	ENSP00000287647:C1130X	C	+	3	2	FANCD2	10103872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.392000	0.20801	2.117000	0.64856	0.529000	0.55759	TGT		0.378	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			19	56	0	0	0	1	0	19	56					A	10128872	T	A	10128872	4	1	453	1	0	0	0	0	0	1	0	0	5665	1702	59	5	3520	5	FANCD2	3	10128872	Nonsense_Mutation	SNP	T	TCGA-YL-A8S8-01A-11D-A377-08		10128872	187893558	12	30984											
CCDC36	339834	broad.mit.edu	37	chr3	49294572	49294572	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagacaactggctacttTccagcagttcccagggggac	10	7	10	14	0	0	1	0	0	0	1	2	2	2	2	3	3	3	3	3	3	3	3			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr3:49294572T>C	ENST00000438782.1	+	8	1878	c.1642T>C	c.(1642-1644)Tcc>Ccc	p.S548P	RP11-3B7.1_ENST00000440528.3_5'Flank|CCDC36_ENST00000296449.5_Missense_Mutation_p.S548P|CCDC36_ENST00000452691.2_Missense_Mutation_p.S548P			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	548										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)		CTGGCTACTTTCCAGCAGTTC	0.522																																						ENST00000438782.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14						c.(1642-1644)Tcc>Ccc		coiled-coil domain containing 36							73	77	76					3																	49294572		2203	4300	6503	SO:0001583	missense	339834							g.chr3:49294572T>C	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"cancer/testis antigen 74"						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.1642T>C	3.37:g.49294572T>C	ENSP00000391788:p.Ser548Pro					CCDC36_ENST00000452691.2_Missense_Mutation_p.S548P|CCDC36_ENST00000296449.5_Missense_Mutation_p.S548P	p.S548P			Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	8	1878	+			548					C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	ENST00000438782.1	37	c.1642T>C	CCDS33755.2	.	.	.	.	.	.	.	.	.	.	T	18.62	3.663147	0.67700	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000309062	T;T;T	0.47869	0.83;0.83;0.83	3.97	3.97	0.46021	.	0.644830	0.13419	N	0.389303	T	0.46580	0.1400	N	0.17082	0.46	0.30646	N	0.755939	D	0.69078	0.997	D	0.63793	0.918	T	0.37056	-0.9722	10	0.27785	T	0.31	-2.83	9.4429	0.38679	0.0:0.0:0.0:1.0	.	548	Q8IYA8	CCD36_HUMAN	P	548;548;548;528	ENSP00000296449:S548P;ENSP00000391788:S548P;ENSP00000407837:S548P	ENSP00000296449:S548P	S	+	1	0	CCDC36	49269576	0.018000	0.18449	0.011000	0.14972	0.937000	0.57800	0.206000	0.17375	1.791000	0.52520	0.459000	0.35465	TCC		0.522	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		26	42	0	0	0	1	0	26	42					C	49294572	T	C	49294572	3	2	453	1	0	0	0	0	1	0	0	0	2808	1783	62	4	1668	4	CCDC36	3	49294572	Missense_Mutation	SNP	T	TCGA-YL-A8S8-01A-11D-A377-08	39165700	49294572	148727858	13	30985											
AMIGO3	29925	broad.mit.edu	37	chr3	49756032	49756032	+	3'UTR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggaccgacccaccagcgcGtacaggtgctcttccggccg	7	5	13	16	5	1	0	0	0	1	0	2	2	2	1	5	3	3	2	5	3	1	2	rs371379790		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr3:49756032G>A	ENST00000480687.1	-	0	4352				RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000535833.1_Silent_p.Y289Y|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Silent_p.Y289Y			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			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)		CCACCAGCGCGTACAGGTGCT	0.662																																						ENST00000535833.1																			0				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5						c.(865-867)taC>taT		adhesion molecule with Ig-like domain 3							29	28	28					3																	49756032		2201	4299	6500	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49756032G>A	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3153C>T	3.37:g.49756032G>A						GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Silent_p.Y289Y|RNF123_ENST00000497099.1_3'UTR	p.Y289Y			Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	4317	-			289			Ig-like C2-type.		A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.867C>T	CCDS2803.1																																																																																				0.662	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		11	16	0	0	0	1	0	11	16					A	49756032	G	A	49756032	1	1	453	0	1	0	0	0	0	0	0	0	577	1140	40	1		1	AMIGO3	3	49756032	3'UTR	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08	461460	49756032	148266398	14	30986											
APC	324	broad.mit.edu	37	chr5	112175490	112175490	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatagttttgagagtcgttCgattgccagctccgttcaga	8	14	11	8	3	1	3	1	2	0	2	4	5	2	3	2	0	2	4	2	0	1	6	rs267600319		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr5:112175490C>A	ENST00000457016.1	+	16	4579	c.4199C>A	c.(4198-4200)tCg>tAg	p.S1400*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.S1400*|APC_ENST00000257430.4_Nonsense_Mutation_p.S1400*			P25054	APC_HUMAN	adenomatous polyposis coli	1400	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S1400*(6)|p.S1400fs*1(6)|p.Y1376fs*41(1)|p.?(1)|p.S1400L(1)|p.K1192fs*3(1)|p.S1400fs*5(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)		GAGAGTCGTTCGATTGCCAGC	0.478		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)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		17	Deletion - Frameshift(9)|Substitution - Nonsense(6)|Unknown(1)|Substitution - Missense(1)	p.S1400*(6)|p.S1400fs*1(6)|p.Y1376fs*41(1)|p.?(1)|p.S1400L(1)|p.K1192fs*3(1)|p.S1400fs*5(1)	large_intestine(15)|soft_tissue(1)|skin(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	GRCh37	CM995167	APC	M		c.(4198-4200)tCg>tAg		adenomatous polyposis coli							109	102	104					5																	112175490		2202	4300	6502	SO:0001587	stop_gained	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	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	g.chr5:112175490C>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4199C>A	5.37:g.112175490C>A	ENSP00000413133:p.Ser1400*	TSP Lung(16;0.13)				APC_ENST00000257430.4_Nonsense_Mutation_p.S1400*|APC_ENST00000508376.2_Nonsense_Mutation_p.S1400*|CTC-554D6.1_ENST00000520401.1_Intron	p.S1400*			P25054	APC_HUMAN		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)	16	4579	+		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)	1400			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.4199C>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.600887	0.98879	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.695	20.4898	0.99202	0.0:1.0:0.0:0.0	.	.	.	.	X	1400	.	.	S	+	2	0	APC	112203389	1.000000	0.71417	0.721000	0.30653	0.765000	0.43378	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	TCG		0.478	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		7	45	1	0	5.18039e-06	1	5.57136e-06	7	45					A	112175490	C	A	112175490	4	1	453	1	0	0	0	0	0	1	0	0	763	893	31	5	4257	5	APC	5	112175490	Nonsense_Mutation	SNP	C	TCGA-YL-A8S8-01A-11D-A377-08		112175490	68739770	15	30987											
FBXO38	81545	broad.mit.edu	37	chr5	147803625	147803626	+	Frame_Shift_Ins	INS	-	-	A																															tggccgagagtggaaataatINSactccagctcacagccaggc																										TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr5:147803625_147803626insA	ENST00000340253.5	+	13	1851_1852	c.1683_1684insA	c.(1684-1686)actfs	p.T562fs	FBXO38_ENST00000296701.6_Frame_Shift_Ins_p.T562fs|FBXO38_ENST00000513826.1_Frame_Shift_Ins_p.T562fs|FBXO38_ENST00000394370.3_Frame_Shift_Ins_p.T562fs			Q6PIJ6	FBX38_HUMAN	F-box protein 38	562					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			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)			GTGGAAATAATACTCCAGCTCA	0.426																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				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						c.(1681-1686)aactccfs		F-box protein 38																																				SO:0001589	frameshift_variant	81545					cytoplasm|nucleus		g.chr5:147803625_147803626insA	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1684dupA	5.37:g.147803626_147803626dupA	ENSP00000342023:p.Thr562fs					FBXO38_ENST00000394370.3_Frame_Shift_Ins_p.NS561fs|FBXO38_ENST00000296701.6_Frame_Shift_Ins_p.NS561fs|FBXO38_ENST00000513826.1_Frame_Shift_Ins_p.NS561fs	p.NS561fs			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1851_1852	+			561					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Frame_Shift_Ins	INS	ENST00000340253.5	37	c.1683_1684insA																																																																																					0.426	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		36	44						36	44	---	---	---	---	A	147803626	-	A	147803625	7	5	453	1	0	1	1	0	0	0	0	0	5746	1403	49	0	1729	0	FBXO38	5	147803625	Frame_Shift_Ins	INS	-	TCGA-YL-A8S8-01A-11D-A377-08	35628135	147803625	33111635	16	30988											
LTC4S	4056	broad.mit.edu	37	chr5	179221091	179221091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgacggtaccatgaaggacGaggtagctctactggctgct	9	8	13	11	3	1	1	0	1	1	0	1	4	1	2	2	4	4	5	2	4	4	3	rs370555009		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr5:179221091G>A	ENST00000292596.10	+	1	105	c.10G>A	c.(10-12)Gag>Aag	p.E4K	MAML1_ENST00000503050.1_3'UTR|LTC4S_ENST00000401985.3_Missense_Mutation_p.E4K	NM_145867.1	NP_665874.1	Q16873	LTC4S_HUMAN	leukotriene C4 synthase	4					arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	enzyme activator activity (GO:0008047)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|leukotriene-C4 synthase activity (GO:0004464)|lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)	1	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)		Glutathione(DB00143)	CATGAAGGACGAGGTAGCTCT	0.617													G|||	1	0.000199681	0	0	5008	,	,		19946	0.001		0	False		,,,				2504	0					ENST00000292596.10																			0				haematopoietic_and_lymphoid_tissue(1)	1	GRCh37	CM056643	LTC4S	M		c.(10-12)Gag>Aag		leukotriene C4 synthase	Glutathione(DB00143)	G	LYS/GLU	1,4405		0,1,2202	163	103	124		10	3	0.4	5		124	0,8600		0,0,4300	no	missense	LTC4S	NM_145867.1	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	4/151	179221091	1,13005	2203	4300	6503	SO:0001583	missense	4056				hormone biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|prostanoid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear outer membrane	enzyme activator activity|glutathione peroxidase activity|leukotriene-C4 synthase activity|lipid binding	g.chr5:179221091G>A	U11552	CCDS34316.1	5q35	2009-07-10			ENSG00000213316	ENSG00000213316	4.4.1.20		6719	protein-coding gene	gene with protein product		246530				8052639	Standard	NM_145867		Approved	MGC33147	uc003mko.3	Q16873	OTTHUMG00000150314	ENST00000292596.10:c.10G>A	5.37:g.179221091G>A	ENSP00000292596:p.Glu4Lys					LTC4S_ENST00000401985.3_Missense_Mutation_p.E4K|MAML1_ENST00000503050.1_3'UTR	p.E4K	NM_145867.1	NP_665874.1	Q16873	LTC4S_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	105	+	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)	4					Q8N6P0|Q9UC73|Q9UD18	Missense_Mutation	SNP	ENST00000292596.10	37	c.10G>A	CCDS34316.1	.	.	.	.	.	.	.	.	.	.	G	9.458	1.092277	0.20471	2.27E-4	0.0	ENSG00000213316	ENST00000292596;ENST00000401985	T;T	0.70045	-0.45;-0.27	3.9	3.02	0.34903	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.319966	0.28499	U	0.015140	T	0.53899	0.1825	L	0.54323	1.7	0.26611	N	0.972832	P	0.38078	0.617	B	0.31016	0.123	T	0.46857	-0.9161	10	0.36615	T	0.2	-1.1156	8.8056	0.34936	0.1099:0.0:0.8901:0.0	.	4	Q16873	LTC4S_HUMAN	K	4	ENSP00000292596:E4K;ENSP00000385627:E4K	ENSP00000292596:E4K	E	+	1	0	LTC4S	179153697	0.978000	0.34361	0.390000	0.26220	0.081000	0.17604	3.473000	0.53122	0.754000	0.32968	0.462000	0.41574	GAG		0.617	LTC4S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317536.2	NM_000897		9	28	0	0	0	1	0	9	28					A	179221091	G	A	179221091	3	1	453	1	0	0	0	0	1	0	0	0	9078	1059	37	2	12	2	LTC4S	5	179221091	Missense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08	31417466	179221091	1694169	17	30989											
TNXB	7148	broad.mit.edu	37	chr6	32017326	32017326	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctcaggggcctccggggCctcagtgctgggttctgtgg	2	10	16	13	1	3	0	2	0	1	0	5	0	5	0	4	6	1	2	4	6	0	1			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr6:32017326C>A	ENST00000375244.3	-	28	9679	c.9478G>T	c.(9478-9480)Gcc>Tcc	p.A3160S	TNXB_ENST00000375247.2_Missense_Mutation_p.A3158S			P22105	TENX_HUMAN	tenascin XB	3205	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCTCCGGGGCCTCAGTGCTG	0.657																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(9478-9480)Gcc>Tcc		tenascin XB							37	41	40					6																	32017326		1164	2504	3668	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32017326C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9478G>T	6.37:g.32017326C>A	ENSP00000364393:p.Ala3160Ser					TNXB_ENST00000375247.2_Missense_Mutation_p.A3158S	p.A3160S			P22105	TENX_HUMAN			28	9679	-			3205			Fibronectin type-III 23.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.9478G>T		.	.	.	.	.	.	.	.	.	.	C	13.29	2.193524	0.38707	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58210	0.5;0.35	3.87	3.87	0.44632	.	0.000000	0.46758	D	0.000269	T	0.54240	0.1846	M	0.79805	2.47	0.22571	N	0.998972	D	0.56287	0.975	P	0.62560	0.904	T	0.47799	-0.9089	10	0.18276	T	0.48	.	11.246	0.48998	0.0:1.0:0.0:0.0	.	3158	P22105-3	.	S	3160;3158	ENSP00000364393:A3160S;ENSP00000364396:A3158S	ENSP00000364393:A3160S	A	-	1	0	TNXB	32125304	0.378000	0.25114	1.000000	0.80357	0.084000	0.17831	0.858000	0.27845	2.006000	0.58801	0.306000	0.20318	GCC		0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		10	30	1	0	2.17888e-05	1	2.25811e-05	10	30					A	32017326	C	A	32017326	3	1	453	1	0	0	0	0	1	0	0	0	16343	739	26	5	5309	5	TNXB	6	32017326	Missense_Mutation	SNP	C	TCGA-YL-A8S8-01A-11D-A377-08		32017326	139097741	18	30990											
MANEA	79694	broad.mit.edu	37	chr6	96054103	96054103	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctatcacctcttttaatgAgtggcatgaaggaactcaga	12	13	8	8	0	4	3	2	2	2	1	4	4	4	4	1	2	1	1	1	2	4	4			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr6:96054103A>G	ENST00000358812.4	+	5	1345	c.1211A>G	c.(1210-1212)gAg>gGg	p.E404G		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	404	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TCTTTTAATGAGTGGCATGAA	0.418																																						ENST00000358812.4																			0				breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1210-1212)gAg>gGg		mannosidase, endo-alpha							60	61	61					6																	96054103		2203	4300	6503	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96054103A>G	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1211A>G	6.37:g.96054103A>G	ENSP00000351669:p.Glu404Gly						p.E404G	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1345	+		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)	404			Catalytic (Probable).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.1211A>G	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.814975	0.90790	.	.	ENSG00000172469	ENST00000358812	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.82834	0.5123	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86549	0.1833	9	0.87932	D	0	-18.1636	16.0034	0.80327	1.0:0.0:0.0:0.0	.	404	Q5SRI9	MANEA_HUMAN	G	404	.	ENSP00000351669:E404G	E	+	2	0	MANEA	96160824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.850000	0.92190	2.371000	0.80710	0.533000	0.62120	GAG		0.418	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		15	33	0	0	0	1	0	15	33					G	96054103	A	G	96054103	3	3	453	1	0	0	0	0	1	0	0	0	9221	304	11	4	1225	4	MANEA	6	96054103	Missense_Mutation	SNP	A	TCGA-YL-A8S8-01A-11D-A377-08	64036777	96054103	75060964	19	30991											
CTAGE9	643854	broad.mit.edu	37	chr6	132032076	132032076	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatctggtctcatactctCaggtagtgctgccacaactc	8	12	7	14	0	4	0	3	0	3	0	7	0	4	0	1	2	4	2	1	2	3	2			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr6:132032076C>A	ENST00000314099.8	-	1	130	c.82G>T	c.(82-84)Gag>Tag	p.E28*	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	28						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						CTCATACTCTCAGGTAGTGCT	0.522																																						ENST00000314099.8																			0				endometrium(1)|lung(1)	2						c.(82-84)Gag>Tag		CTAGE family, member 9							105	183	165					6																	132032076		482	1572	2054	SO:0001587	stop_gained	643854					integral to membrane		g.chr6:132032076C>A		CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.82G>T	6.37:g.132032076C>A	ENSP00000395587:p.Glu28*					ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron	p.E28*	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN			1	130	-			28						Nonsense_Mutation	SNP	ENST00000314099.8	37	c.82G>T	CCDS47475.1	.	.	.	.	.	.	.	.	.	.	-	11.36	1.614956	0.28712	.	.	ENSG00000236761	ENST00000314099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	.	.	.	.	.	.	.	X	28	.	ENSP00000395587:E28X	E	-	1	0	CTAGE9	132073769	1.000000	0.71417	0.007000	0.13788	0.000000	0.00434	0.559000	0.23485	0.497000	0.27926	0.000000	0.15137	GAG		0.522	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109220.1	NM_001145659		16	41	1	0	1.15088e-07	1	1.28627e-07	16	41					A	132032076	C	A	132032076	4	1	453	1	0	0	0	0	0	1	0	0	3996	835	29	5	2255	5	CTAGE9	6	132032076	Nonsense_Mutation	SNP	C	TCGA-YL-A8S8-01A-11D-A377-08	35977973	132032076	39082991	20	30992											
CHST12	55501	broad.mit.edu	37	chr7	2473204	2473204	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccagtacctgctggacccGcacacggagaagctggcgcc	9	5	12	15	3	0	1	0	0	0	1	1	3	1	2	4	3	3	4	4	3	2	1			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr7:2473204G>A	ENST00000258711.6	+	2	1065	c.930G>A	c.(928-930)ccG>ccA	p.P310P		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	310					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TGCTGGACCCGCACACGGAGA	0.657																																						ENST00000258711.6																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(928-930)ccG>ccA		carbohydrate (chondroitin 4) sulfotransferase 12							40	44	43					7																	2473204		2203	4300	6503	SO:0001819	synonymous_variant	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2473204G>A	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"Sulfotransferases, membrane-bound"	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.930G>A	7.37:g.2473204G>A							p.P310P	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	1065	+		Ovarian(82;0.0253)	310					A4D1Z9|Q502W3|Q9NXY7	Silent	SNP	ENST00000258711.6	37	c.930G>A	CCDS5333.1																																																																																				0.657	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		23	52	0	0	0	1	0	23	52					A	2473204	G	A	2473204	2	1	453	1	0	0	0	0	0	0	0	1	3400	1074	38	1		1	CHST12	7	2473204	Silent	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08		2473204	156665459	21	30993											
EIF4H	7458	broad.mit.edu	37	chr7	73588718	73588718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcggagacggcaaatggCggacttcgacacctacgacg	11	4	15	11	6	0	1	0	0	0	1	1	6	0	3	1	5	2	1	1	5	2	2			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr7:73588718C>T	ENST00000265753.8	+	1	144	c.5C>T	c.(4-6)gCg>gTg	p.A2V	EIF4H_ENST00000353999.6_Missense_Mutation_p.A2V	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	2					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						CGGCAAATGGCGGACTTCGAC	0.741																																						ENST00000265753.8																			0				endometrium(1)|lung(2)|prostate(1)	4						c.(4-6)gCg>gTg		eukaryotic translation initiation factor 4H							24	23	23					7																	73588718		2203	4300	6503	SO:0001583	missense	7458				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	g.chr7:73588718C>T		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"RNA binding motif (RRM) containing"	12741	protein-coding gene	gene with protein product		603431	"Williams-Beuren syndrome chromosome region 1"	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.5C>T	7.37:g.73588718C>T	ENSP00000265753:p.Ala2Val					EIF4H_ENST00000353999.6_Missense_Mutation_p.A2V	p.A2V	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN			1	144	+			2					A8K3R1|D3DXF6|D3DXF8	Missense_Mutation	SNP	ENST00000265753.8	37	c.5C>T	CCDS5564.1	.	.	.	.	.	.	.	.	.	.	C	34	5.410976	0.96072	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	T;T	0.38722	1.12;1.35	4.09	4.09	0.47781	.	0.256239	0.32703	U	0.005756	T	0.61874	0.2382	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.998;0.996	P;D;P;D	0.76071	0.75;0.987;0.873;0.939	T	0.66352	-0.5945	10	0.59425	D	0.04	0.1031	15.1997	0.73126	0.0:1.0:0.0:0.0	.	2;2;2;2	B4DMV6;Q75MU2;Q15056-2;Q15056	.;.;.;IF4H_HUMAN	V	2	ENSP00000265753:A2V;ENSP00000265754:A2V	ENSP00000265753:A2V	A	+	2	0	EIF4H	73226654	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.551000	0.53698	1.978000	0.57642	0.462000	0.41574	GCG		0.741	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		6	14	0	0	0	1	0	6	14					T	73588718	C	T	73588718	3	4	453	1	0	0	0	0	1	0	0	0	5039	768	27	1	7	1	EIF4H	7	73588718	Missense_Mutation	SNP	C	TCGA-YL-A8S8-01A-11D-A377-08	71115514	73588718	85549945	22	30994											
C7orf60	154743	broad.mit.edu	37	chr7	112462373	112462373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcatctatagcatcctgtGcaagctggagtggttgctga	10	11	12	8	0	1	1	0	1	1	0	2	2	2	2	1	2	5	6	1	2	4	3			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr7:112462373G>A	ENST00000297145.4	-	5	809	c.644C>T	c.(643-645)gCa>gTa	p.A215V	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	215							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						AGCATCCTGTGCAAGCTGGAG	0.388																																						ENST00000297145.4																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(643-645)gCa>gTa		chromosome 7 open reading frame 60							43	44	44					7																	112462373		1860	4102	5962	SO:0001583	missense	154743							g.chr7:112462373G>A		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"hypothetical protein FLJ31818"						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.644C>T	7.37:g.112462373G>A	ENSP00000297145:p.Ala215Val						p.A215V	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN			5	809	-			215					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.644C>T	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129141	0.77549	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.77791	0.4183	L	0.57536	1.79	0.80722	D	1	D;D	0.69078	0.997;0.984	D;P	0.75020	0.985;0.829	T	0.78214	-0.2291	9	0.72032	D	0.01	-10.0621	20.0044	0.97430	0.0:0.0:1.0:0.0	.	162;215	B4DST1;Q1RMZ1	.;CG060_HUMAN	V	215;197;162	.	ENSP00000297145:A215V	A	-	2	0	C7orf60	112249609	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.714000	0.92807	0.650000	0.86243	GCA		0.388	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		20	31	0	0	0	1	0	20	31					A	112462373	G	A	112462373	3	1	453	1	0	0	0	0	1	0	0	0	2407	1319	46	3	577	3	C7orf60	7	112462373	Missense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08	38873655	112462373	46676290	23	30995											
DCLRE1C	64421	broad.mit.edu	37	chr10	14995921	14995921	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtggcagtgggacaggAagtaggcgcgggccctcagg	7	7	18	9	2	1	0	1	0	0	0	1	2	1	2	1	6	0	2	1	6	2	2			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr10:14995921A>G	ENST00000378278.2	-	1	126	c.89T>C	c.(88-90)tTc>tCc	p.F30S	DCLRE1C_ENST00000378249.1_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.F30S|DCLRE1C_ENST00000378246.2_5'UTR|DCLRE1C_ENST00000357717.2_5'UTR|DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000396817.2_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	30					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GTGGGACAGGAAGTAGGCGCG	0.652								Non-homologous end-joining																														ENST00000378289.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(88-90)tTc>tCc	Non-homologous end-joining	DNA cross-link repair 1C							56	60	58					10																	14995921		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14995921A>G	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.89T>C	10.37:g.14995921A>G	ENSP00000367527:p.Phe30Ser					DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.F30S|DCLRE1C_ENST00000378249.1_5'UTR|DCLRE1C_ENST00000357717.2_5'UTR|DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000378246.2_5'UTR|DCLRE1C_ENST00000396817.2_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR	p.F30S			Q96SD1	DCR1C_HUMAN			1	510	-			30					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.89T>C	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	A	36	5.948575	0.97134	.	.	ENSG00000152457	ENST00000378289;ENST00000378278	T;T	0.77229	-1.08;-1.08	5.74	5.74	0.90152	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.92182	0.7521	H	0.96916	3.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94606	0.7800	10	0.87932	D	0	.	15.9917	0.80211	1.0:0.0:0.0:0.0	.	30;30	Q96SD1-4;Q96SD1	.;DCR1C_HUMAN	S	30	ENSP00000367538:F30S;ENSP00000367527:F30S	ENSP00000367527:F30S	F	-	2	0	DCLRE1C	15035927	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.148000	0.89630	2.317000	0.78254	0.459000	0.35465	TTC		0.652	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		11	29	0	0	0	1	0	11	29					G	14995921	A	G	14995921	3	3	453	1	0	0	0	0	1	0	0	0	4296	246	9	4	2045	4	DCLRE1C	10	14995921	Missense_Mutation	SNP	A	TCGA-YL-A8S8-01A-11D-A377-08		14995921	120538826	24	30996											
MUC6	4588	broad.mit.edu	37	chr11	1029109	1029109	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagacgccggacttgtcGtacacagccatgagggcacc	9	7	13	12	3	0	2	0	2	0	1	1	4	0	3	3	2	2	2	3	2	1	2			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr11:1029109G>A	ENST00000421673.2	-	11	1367	c.1317C>T	c.(1315-1317)taC>taT	p.Y439Y		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	439	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			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)		CGGACTTGTCGTACACAGCCA	0.697																																						ENST00000421673.2																			0				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						c.(1315-1317)taC>taT		mucin 6, oligomeric mucus/gel-forming							42	48	46					11																	1029109		2092	4204	6296	SO:0001819	synonymous_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1029109G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1317C>T	11.37:g.1029109G>A							p.Y439Y	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		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)	11	1367	-		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)	439			VWFD 2.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	c.1317C>T	CCDS44513.1																																																																																				0.697	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		6	17	0	0	0	1	0	6	17					A	1029109	G	A	1029109	2	1	453	1	0	0	0	0	0	0	0	1	9980	1140	40	1		1	MUC6	11	1029109	Silent	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08		1029109	133977407	25	30997											
CD81	975	broad.mit.edu	37	chr11	2416275	2416275	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgtcaacaaggaccAggtgagcctgggtgtgcagg	8	8	17	8	0	1	1	1	1	0	0	1	2	1	2	2	5	3	2	2	5	2	1			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr11:2416275A>G	ENST00000263645.5	+	4	609	c.353A>G	c.(352-354)cAg>cGg	p.Q118R	CD81_ENST00000524805.1_3'UTR|CD81_ENST00000481687.1_Splice_Site_p.Q124R|CD81_ENST00000526072.1_Splice_Site_p.Q47R|CD81_ENST00000381036.3_Splice_Site_p.Q156R|CD81_ENST00000492627.1_Splice_Site_p.Q47R	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	118					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		AACAAGGACCAGGTGAGCCTG	0.662																																						ENST00000263645.5																			0				endometrium(1)|lung(3)|skin(1)	5						c.e4+1		CD81 molecule							57	54	55					11																	2416275		2201	4297	6498	SO:0001630	splice_region_variant	975				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	g.chr11:2416275A>G		CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"CD molecules", "Tetraspanins"	1701	protein-coding gene	gene with protein product		186845	"CD81 antigen (target of antiproliferative antibody 1)"	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.354+1A>G	11.37:g.2416275A>G						CD81_ENST00000524805.1_3'UTR|CD81_ENST00000526072.1_Splice_Site_p.Q47_splice|CD81_ENST00000481687.1_Splice_Site_p.Q124_splice|CD81_ENST00000492627.1_Splice_Site_p.Q47_splice|CD81_ENST00000381036.3_Splice_Site_p.Q156_splice	p.Q118_splice	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)	4	609	+		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)	118					P18582|Q5U0J6	Splice_Site	SNP	ENST00000263645.5	37	c.354_splice	CCDS7734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.23|17.23	3.335520|3.335520	0.60853|0.60853	.|.	.|.	ENSG00000110651|ENSG00000110651	ENST00000475945;ENST00000530648;ENST00000263645;ENST00000533417;ENST00000492627;ENST00000527343;ENST00000381036;ENST00000492252;ENST00000526072;ENST00000481687|ENST00000464784	T;T;T;T;T;T;T;T;T;T|.	0.80480|.	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38|.	3.52|3.52	3.52|3.52	0.40303|0.40303	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);|.	0.147233|.	0.46442|.	D|.	0.000297|.	T|T	0.56790|0.56790	0.2009|0.2009	L|L	0.43646|0.43646	1.37|1.37	0.48975|0.48975	D|D	0.999738|0.999738	P;P|.	0.41947|.	0.766;0.533|.	P;B|.	0.45071|.	0.468;0.334|.	T|T	0.53885|0.53885	-0.8375|-0.8375	10|5	0.37606|.	T|.	0.19|.	.|.	11.3267|11.3267	0.49452|0.49452	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	156;118|.	A6NMH8;P60033|.	.;CD81_HUMAN|.	R|G	47;47;118;113;47;107;156;111;47;124|103	ENSP00000433178:Q47R;ENSP00000432723:Q47R;ENSP00000263645:Q118R;ENSP00000435633:Q113R;ENSP00000437242:Q47R;ENSP00000433767:Q107R;ENSP00000370424:Q156R;ENSP00000432249:Q111R;ENSP00000431780:Q47R;ENSP00000432033:Q124R|.	ENSP00000263645:Q118R|.	Q|R	+|+	2|1	0|2	CD81|CD81	2372851|2372851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.287000|3.287000	0.51732|0.51732	1.621000|1.621000	0.50320|0.50320	0.459000|0.459000	0.35465|0.35465	CAG|AGA		0.662	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	NM_004356	Missense_Mutation	3	40	0	0	0	1	0	3	40					G	2416275	A	G	2416275	5	3	453	1	0	0	0	0	0	0	1	0	3039	202	7	4	367	4	CD81	11	2416275	Splice_Site	SNP	A	TCGA-YL-A8S8-01A-11D-A377-08	1387166	2416275	132590241	26	30998											
SBF2	81846	broad.mit.edu	37	chr11	9838385	9838385	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgagaaaaaagaaatcttAcccttagttgcgacttttca	15	12	7	7	1	2	2	1	1	1	2	2	4	2	2	1	0	2	1	1	0	6	5			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr11:9838385A>G	ENST00000256190.8	-	29	4116		c.e29+1			NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2						cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAGAAATCTTACCCTTAGTTG	0.403																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.e29+1		SET binding factor 2							73	61	65					11																	9838385		2201	4294	6495	SO:0001630	splice_region_variant	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9838385A>G	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3978+1T>C	11.37:g.9838385A>G								NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	29	4116	-								Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Splice_Site	SNP	ENST00000256190.8	37		CCDS31427.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409863	0.83340	.	.	ENSG00000133812	ENST00000256190;ENST00000530741	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5179	0.75840	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SBF2	9794961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.071000	0.62044	0.460000	0.39030	.		0.403	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962	Intron	14	34	0	0	0	1	0	14	34					G	9838385	A	G	9838385	5	3	453	1	0	0	0	0	0	0	1	0	13859	405	14	4	1617	4	SBF2	11	9838385	Splice_Site	SNP	A	TCGA-YL-A8S8-01A-11D-A377-08	7422110	9838385	125168131	27	30999											
RAG1	5896	broad.mit.edu	37	chr11	36595191	36595191	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcgacatctctgccgcAtctgtgggaattcttttaga	8	14	8	11	2	3	1	0	0	3	1	5	3	3	2	2	1	1	1	2	1	2	4			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr11:36595191A>G	ENST00000299440.5	+	2	449	c.337A>G	c.(337-339)Atc>Gtc	p.I113V		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	113	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			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)				TCTCTGCCGCATCTGTGGGAA	0.443									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				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						c.(337-339)Atc>Gtc		recombination activating gene 1							112	107	108					11																	36595191		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	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	g.chr11:36595191A>G	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.337A>G	11.37:g.36595191A>G	ENSP00000299440:p.Ile113Val						p.I113V	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	449	+	all_lung(20;0.226)	all_hematologic(20;0.107)	113			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.337A>G	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473434	0.43942	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.73897	-0.79;-0.79	6.14	6.14	0.99180	.	0.120828	0.56097	D	0.000035	D	0.83575	0.5284	M	0.75150	2.29	0.42510	D	0.992965	P	0.42409	0.779	P	0.53266	0.722	D	0.85289	0.1066	10	0.87932	D	0	.	16.806	0.85666	1.0:0.0:0.0:0.0	.	113	P15918	RAG1_HUMAN	V	113	ENSP00000434610:I113V;ENSP00000299440:I113V	ENSP00000299440:I113V	I	+	1	0	RAG1	36551767	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.214000	0.42853	2.367000	0.80283	0.529000	0.55759	ATC		0.443	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		29	37	0	0	0	1	0	29	37					G	36595191	A	G	36595191	3	3	453	1	0	0	0	0	1	0	0	0	13003	217	8	4	339	4	RAG1	11	36595191	Missense_Mutation	SNP	A	TCGA-YL-A8S8-01A-11D-A377-08	26756806	36595191	98411325	28	31000											
CACNA1C	775	broad.mit.edu	37	chr12	2622020	2622020	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggccaaggcccggggagaTttccagaagctgcgggagaa	12	4	16	9	2	0	3	0	0	0	3	1	5	1	3	3	5	2	1	3	5	4	1			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr12:2622020T>A	ENST00000347598.4	+	9	1260	c.1260T>A	c.(1258-1260)gaT>gaA	p.D420E	CACNA1C_ENST00000399603.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399655.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D420E|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D420E	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	420					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCGGGGAGATTTCCAGAAGC	0.567																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1258-1260)gaT>gaA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						29	35	33					12																	2622020		2143	4267	6410	SO:0001583	missense	775				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	g.chr12:2622020T>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1260T>A	12.37:g.2622020T>A	ENSP00000266376:p.Asp420Glu					CACNA1C_ENST00000399637.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D420E|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D420E|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D420E|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D420E	p.D420E	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	9	1525	+			420					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.1260T>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957016	0.53293	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35	4.67	-1.97	0.07503	.	0.046376	0.85682	D	0.000000	D	0.95818	0.8639	L	0.31476	0.935	0.46725	D	0.999171	B;D;D;B;D;D;D;D;B;P;D;D;B;D;D;D;D;P;D;P;D;D;D;D;D	0.76494	0.141;0.999;0.996;0.169;0.957;0.998;0.996;0.998;0.014;0.907;0.998;0.996;0.074;0.996;0.994;0.996;0.996;0.699;0.993;0.494;0.996;0.998;0.998;0.996;0.996	B;D;D;B;D;D;D;D;B;P;D;D;B;D;D;D;D;B;D;B;D;D;D;D;D	0.81914	0.155;0.994;0.99;0.084;0.96;0.995;0.99;0.995;0.174;0.664;0.995;0.99;0.219;0.995;0.978;0.99;0.987;0.174;0.975;0.174;0.987;0.995;0.995;0.987;0.99	D	0.92073	0.5666	10	0.24483	T	0.36	.	11.8398	0.52346	0.0:0.5324:0.0:0.4676	.	49;420;417;420;420;420;420;420;420;420;420;420;391;420;420;420;420;420;420;420;420;420;420;420;420	Q5V9X8;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	E	420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;261	ENSP00000336982:D420E;ENSP00000382563:D420E;ENSP00000437936:D420E;ENSP00000382552:D420E;ENSP00000382547:D420E;ENSP00000382506:D420E;ENSP00000382530:D420E;ENSP00000382546:D420E;ENSP00000382500:D420E;ENSP00000382549:D420E;ENSP00000266376:D420E;ENSP00000382515:D420E;ENSP00000382510:D420E;ENSP00000341092:D420E;ENSP00000382537:D420E;ENSP00000329877:D420E;ENSP00000382557:D420E;ENSP00000385724:D420E;ENSP00000382512:D420E;ENSP00000382542:D420E;ENSP00000382526:D420E;ENSP00000385896:D420E;ENSP00000382504:D420E	ENSP00000323129:D261E	D	+	3	2	CACNA1C	2492281	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	0.829000	0.27449	-0.196000	0.10366	-0.290000	0.09829	GAT		0.567	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		3	14	0	0	0	1	0	3	14					A	2622020	T	A	2622020	3	1	453	1	0	0	0	0	1	0	0	0	2540	1490	52	5	1402	5	CACNA1C	12	2622020	Missense_Mutation	SNP	T	TCGA-YL-A8S8-01A-11D-A377-08		2622020	131229875	29	31001											
ELF1	1997	broad.mit.edu	37	chr13	41508157	41508157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaacttgggttggagcctGtatagtcctattgagatgat	9	14	13	5	0	0	2	0	2	0	1	1	5	1	4	2	3	2	2	2	3	4	6			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr13:41508157G>T	ENST00000239882.3	-	9	1578	c.1264C>A	c.(1264-1266)Cag>Aag	p.Q422K	ELF1_ENST00000442101.1_Missense_Mutation_p.Q398K|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	422					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		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)		GTTGGAGCCTGTATAGTCCTA	0.383																																						ENST00000239882.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1264-1266)Cag>Aag		E74-like factor 1 (ets domain transcription factor)							91	82	85					13																	41508157		2203	4300	6503	SO:0001583	missense	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41508157G>T	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1264C>A	13.37:g.41508157G>T	ENSP00000239882:p.Gln422Lys					ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.Q398K	p.Q422K	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN		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)	9	1578	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	422					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	c.1264C>A	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722767	0.30503	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.39229	1.09;1.09	5.44	5.44	0.79542	.	0.213135	0.41823	D	0.000808	T	0.37210	0.0995	L	0.34521	1.04	0.38565	D	0.949811	P;P	0.48911	0.835;0.917	B;B	0.40982	0.272;0.345	T	0.37619	-0.9698	10	0.51188	T	0.08	.	19.2715	0.94011	0.0:0.0:1.0:0.0	.	398;422	E9PDQ9;P32519	.;ELF1_HUMAN	K	398;164;422	ENSP00000405580:Q398K;ENSP00000239882:Q422K	ENSP00000239882:Q422K	Q	-	1	0	ELF1	40406157	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.754000	0.62191	2.539000	0.85634	0.655000	0.94253	CAG		0.383	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		18	27	1	0	3.32936e-07	1	3.64949e-07	18	27					T	41508157	G	T	41508157	3	4	453	1	0	0	0	0	1	0	0	0	5053	1386	48	5	599	5	ELF1	13	41508157	Missense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08		41508157	73661721	30	31002											
CHTF18	63922	broad.mit.edu	37	chr16	844192	844192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgggcgagcacgagaaGgtggtccaggtacctgtctt	7	9	15	10	3	2	1	0	0	2	1	3	3	3	1	2	4	3	2	2	4	2	2			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr16:844192G>T	ENST00000262315.9	+	15	2004	c.1941G>T	c.(1939-1941)aaG>aaT	p.K647N	CHTF18_ENST00000455171.2_Missense_Mutation_p.K675N|CHTF18_ENST00000317063.6_Missense_Mutation_p.K856N	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	647					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				AGCACGAGAAGGTGGTCCAGG	0.682																																						ENST00000317063.6																			0				endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11						c.(2566-2568)aaG>aaT		CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)							37	43	41					16																	844192		2155	4258	6413	SO:0001583	missense	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:844192G>T	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.1941G>T	16.37:g.844192G>T	ENSP00000262315:p.Lys647Asn					CHTF18_ENST00000455171.2_Missense_Mutation_p.K675N|CHTF18_ENST00000262315.9_Missense_Mutation_p.K647N	p.K856N			Q8WVB6	CTF18_HUMAN			17	2568	+		Hepatocellular(780;0.00335)	647					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	c.2568G>T	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281200	0.59758	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.13420	2.62;2.6;2.59	5.47	3.49	0.39957	.	0.093553	0.64402	D	0.000001	T	0.40196	0.1107	M	0.88979	2.995	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.39800	-0.9596	10	0.56958	D	0.05	-46.4313	10.2235	0.43212	0.1666:0.0:0.8334:0.0	.	675;647	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	N	856;675;647	ENSP00000313029:K856N;ENSP00000406252:K675N;ENSP00000262315:K647N	ENSP00000262315:K647N	K	+	3	2	CHTF18	784193	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.612000	0.24283	1.318000	0.45170	0.655000	0.94253	AAG		0.682	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		10	24	1	0	0.0167234	1	0.0167234	10	24					T	844192	G	T	844192	3	4	453	1	0	0	0	0	1	0	0	0	3414	991	35	5	1999	5	CHTF18	16	844192	Missense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08		844192	89510561	31	31003											
SRCAP	10847	broad.mit.edu	37	chr16	30722964	30722964	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctctgggagcagtgaagAtgaggatgaagatgaggttg	12	8	18	3	0	1	6	0	4	1	2	1	8	1	8	0	4	1	3	0	4	2	1			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr16:30722964A>G	ENST00000262518.4	+	11	1776	c.1391A>G	c.(1390-1392)gAt>gGt	p.D464G	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.D464G|SRCAP_ENST00000395059.2_Missense_Mutation_p.D464G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	464	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			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)			AGCAGTGAAGATGAGGATGAA	0.517																																						ENST00000262518.4																			0				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						c.(1390-1392)gAt>gGt		Snf2-related CREBBP activator protein							106	105	106					16																	30722964		2197	4300	6497	SO:0001583	missense	10847				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	g.chr16:30722964A>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1391A>G	16.37:g.30722964A>G	ENSP00000262518:p.Asp464Gly					SRCAP_ENST00000395059.2_Missense_Mutation_p.D464G|SRCAP_ENST00000344771.4_Missense_Mutation_p.D464G	p.D464G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		11	1776	+			464			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.1391A>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	A	8.727	0.915738	0.17907	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91843	-2.92;-2.89;-2.89	4.32	4.32	0.51571	.	0.846637	0.10461	N	0.671966	D	0.85957	0.5818	N	0.24115	0.695	0.25307	N	0.989238	B;B;B	0.21606	0.017;0.058;0.01	B;B;B	0.20767	0.031;0.031;0.014	T	0.76421	-0.2965	10	0.44086	T	0.13	-0.7918	9.6343	0.39798	0.8246:0.1754:0.0:0.0	.	464;464;464	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	G	464	ENSP00000262518:D464G;ENSP00000378499:D464G;ENSP00000343042:D464G	ENSP00000262518:D464G	D	+	2	0	SRCAP	30630465	0.987000	0.35691	0.813000	0.32504	0.463000	0.32649	3.082000	0.50128	1.937000	0.56155	0.460000	0.39030	GAT		0.517	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		21	68	0	0	0	1	0	21	68					G	30722964	A	G	30722964	3	3	453	1	0	0	0	0	1	0	0	0	15134	333	12	4	1425	4	SRCAP	16	30722964	Missense_Mutation	SNP	A	TCGA-YL-A8S8-01A-11D-A377-08	29878772	30722964	59631789	32	31004											
PKD1L2	114780	broad.mit.edu	37	chr16	81249856	81249856	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgggccactcacggaactCgcacatgaaggcgaaggtct	11	5	12	13	4	2	1	1	1	1	0	3	3	2	2	1	4	1	1	1	4	3	0	rs369884548		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr16:81249856C>T	ENST00000525539.1	-	0	456				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCACGGAACTCGCACATGAAG	0.677																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(457-459)Gag>Aag		polycystic kidney disease 1-like 2		C	LYS/GLU,LYS/GLU	0,4204		0,0,2102	58	74	69		457,457	5.1	1	16		69	1,8441		0,1,4220	no	missense,missense	PKD1L2	NM_001076780.1,NM_052892.3	56,56	0,1,6322	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging,probably-damaging	153/992,153/2460	81249856	1,12645	2102	4221	6323			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81249856C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81249856C>T						PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA	p.E153K			Q7Z442	PK1L2_HUMAN			2	456	-			153			C-type lectin.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.457G>A		.	.	.	.	.	.	.	.	.	.	C	16.21	3.059537	0.55325	0.0	1.18E-4	ENSG00000166473	ENST00000337114	T	0.19806	2.12	5.09	5.09	0.68999	C-type lectin fold (1);C-type lectin (3);	0.222729	0.38058	N	0.001833	T	0.31071	0.0785	.	.	.	0.27333	N	0.956723	D;D	0.65815	0.995;0.959	P;B	0.51297	0.665;0.408	T	0.11767	-1.0574	9	0.49607	T	0.09	-11.2351	14.2226	0.65839	0.0:0.8509:0.1491:0.0	.	153;153	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	K	153	ENSP00000337397:E153K	ENSP00000337397:E153K	E	-	1	0	PKD1L2	79807357	0.988000	0.35896	1.000000	0.80357	0.047000	0.14425	0.790000	0.26900	2.391000	0.81399	0.650000	0.86243	GAG		0.677	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			15	35	0	0	0	1	0	15	35					T	81249856	C	T	81249856	1	4	453	0	1	0	0	0	0	0	0	0	11965	893	31	2		2	PKD1L2	16	81249856	RNA	SNP	C	TCGA-YL-A8S8-01A-11D-A377-08	50526892	81249856	9104897	33	31005											
CCL15	6359	broad.mit.edu	37	chr17	34324881	34324881	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcacagacttgccgcccCttcttggtgaggaatctggg	6	11	13	11	1	2	2	0	1	2	1	2	3	2	3	3	4	1	1	3	4	1	4			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr17:34324881C>A	ENST00000354059.4	-	4	816	c.264G>T	c.(262-264)aaG>aaT	p.K88N	CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.K88N|CCL14_ENST00000536149.1_De_novo_Start_OutOfFrame	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	88					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive chemotaxis (GO:0050918)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGCCGCCCCTTCTTGGTGA	0.507																																						ENST00000536149.1																			0				large_intestine(1)|lung(6)	7								chemokine (C-C motif) ligand 14							54	53	53					17																	34324881		2203	4300	6503	SO:0001583	missense	6358				cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	g.chr17:34324881C>A	AF031587	CCDS11304.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000267596	ENSG00000275718		"Chemokine ligands", "Endogenous ligands"	10613	protein-coding gene	gene with protein product	"leukotactin 1", "CC chemokine 3", "macrophage inflammatory protein 5", "chemokine CC-2", "MIP-1 delta"	601393	"small inducible cytokine subfamily A (Cys-Cys), member 15"	SCYA15		8661057	Standard	NM_032965		Approved	HCC-2, NCC-3, SCYL3, MIP-5, Lkn-1, MIP-1d, HMRP-2B	uc010wcu.2	Q16663	OTTHUMG00000188406	ENST00000354059.4:c.264G>T	17.37:g.34324881C>A	ENSP00000293276:p.Lys88Asn					CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.K88N|CCL15_ENST00000354059.4_Missense_Mutation_p.K88N				Q16627	CCL14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	0	832	-		Ovarian(249;0.17)						B2RU34|E1P651|Q9UM74	Translation_Start_Site	SNP	ENST00000354059.4	37		CCDS11304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.69|14.69	2.610942|2.610942	0.46631|0.46631	.|.	.|.	ENSG00000161574|ENSG00000161574	ENST00000354059|ENST00000394506	T|.	0.05382|.	3.45|.	4.72|4.72	-6.98|-6.98	0.01611|0.01611	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);|.	0.796847|.	0.10653|.	N|.	0.649640|.	T|T	0.31071|0.31071	0.0785|0.0785	L|L	0.52823|0.52823	1.66|1.66	0.09310|0.09310	N|N	1|1	B|.	0.29481|.	0.245|.	B|.	0.35039|.	0.194|.	T|T	0.36480|0.36480	-0.9746|-0.9746	10|5	0.54805|.	T|.	0.06|.	.|.	0.9572|0.9572	0.01388|0.01388	0.3366:0.1609:0.1108:0.3916|0.3366:0.1609:0.1108:0.3916	.|.	88|.	Q16663|.	CCL15_HUMAN|.	N|M	88|36	ENSP00000293276:K88N|.	ENSP00000293276:K88N|.	K|R	-|-	3|2	2|0	CCL15|CCL15	31348994|31348994	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.038000|0.038000	0.13279|0.13279	-1.099000|-1.099000	0.03343|0.03343	-1.254000|-1.254000	0.02485|0.02485	0.591000|0.591000	0.81541|0.81541	AAG|AGG		0.507	CCL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256584.2	NM_004167		13	32	1	0	9.31168e-06	1	9.829e-06	13	32					A	34324881	C	A	34324881	3	1	453	1	0	0	0	0	1	0	0	0	2886	680	24	5	81	5	CCL15	17	34324881	Missense_Mutation	SNP	C	TCGA-YL-A8S8-01A-11D-A377-08		34324881	46870329	34	31006											
SPOP	8405	broad.mit.edu	37	chr17	47696689	47696689	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagctgaccagtaacaggtAaagtgacaggtaatctttgc	14	9	10	8	0	1	2	0	2	1	0	1	2	1	2	1	2	3	4	1	2	4	4			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr17:47696689A>T	ENST00000393328.2	-	5	624	c.259T>A	c.(259-261)Tac>Aac	p.Y87N	SPOP_ENST00000503676.1_Missense_Mutation_p.Y87N|SPOP_ENST00000393331.3_Missense_Mutation_p.Y87N|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87N|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.Y87N(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AGTAACAGGTAAAGTGACAGG	0.403										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(2)	p.Y87N(2)	prostate(2)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(259-261)Tac>Aac		speckle-type POZ protein							113	106	108					17																	47696689		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696689A>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.259T>A	17.37:g.47696689A>T	ENSP00000377001:p.Tyr87Asn	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87N|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87N|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87N|SPOP_ENST00000513080.1_5'UTR	p.Y87N	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	729	-			87			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.259T>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.737620	0.89573	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.86163	0.5867	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89503	0.3765	10	0.66056	D	0.02	-9.2801	15.4649	0.75390	1.0:0.0:0.0:0.0	.	87	O43791	SPOP_HUMAN	N	87;87;87;87;87;40;87;87;87;87;87	ENSP00000377001:Y87N;ENSP00000377004:Y87N;ENSP00000240327:Y87N;ENSP00000425905:Y87N;ENSP00000420908:Y87N;ENSP00000426986:Y87N;ENSP00000420960:Y87N;ENSP00000426262:Y87N;ENSP00000424119:Y87N;ENSP00000426537:Y87N	ENSP00000240327:Y87N	Y	-	1	0	SPOP	45051688	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TAC		0.403	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		20	55	0	0	0	1	0	20	55					T	47696689	A	T	47696689	3	4	453	1	0	0	0	0	1	0	0	0	15083	362	13	5	893	5	SPOP	17	47696689	Missense_Mutation	SNP	A	TCGA-YL-A8S8-01A-11D-A377-08	13371808	47696689	33498521	35	31007											
CEP192	55125	broad.mit.edu	37	chr18	13049296	13049296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctactagtgtaagtgtgaggGcaccagaagaaaacacagca	16	6	11	8	0	0	3	0	1	0	2	0	3	0	3	1	1	3	3	1	1	6	3			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr18:13049296G>T	ENST00000325971.8	+	14	2311	c.718G>T	c.(718-720)Gca>Tca	p.A240S	CEP192_ENST00000430049.2_Missense_Mutation_p.A361S|CEP192_ENST00000506447.1_Missense_Mutation_p.A836S			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	240					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			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						AAGTGTGAGGGCACCAGAAGA	0.388																																						ENST00000506447.1																			0				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						c.(2506-2508)Gca>Tca		centrosomal protein 192kDa							111	106	108					18																	13049296		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13049296G>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.718G>T	18.37:g.13049296G>T	ENSP00000317156:p.Ala240Ser					CEP192_ENST00000325971.8_Missense_Mutation_p.A240S|CEP192_ENST00000430049.2_Missense_Mutation_p.A361S	p.A836S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			16	2586	+			431					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.2506G>T		.	.	.	.	.	.	.	.	.	.	G	5.534	0.283400	0.10458	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.05925	3.39;3.37;3.37	5.37	3.53	0.40419	.	0.470805	0.17739	N	0.163604	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46219	-0.9207	10	0.20046	T	0.44	-2.5494	5.5831	0.17260	0.0772:0.4024:0.3968:0.1236	.	361;836;240	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	S	836;240;240;361	ENSP00000427550:A836S;ENSP00000317156:A240S;ENSP00000389190:A361S	ENSP00000317156:A240S	A	+	1	0	CEP192	13039296	0.019000	0.18553	0.011000	0.14972	0.151000	0.21798	0.940000	0.28992	0.678000	0.31325	0.650000	0.86243	GCA		0.388	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		14	53	1	0	1.15088e-07	1	1.28627e-07	14	53					T	13049296	G	T	13049296	3	4	453	1	0	0	0	0	1	0	0	0	3251	1203	42	5	2564	5	CEP192	18	13049296	Missense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08		13049296	65027952	36	31008											
BEST2	54831	broad.mit.edu	37	chr19	12866250	12866250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcactatgactggattagcGtacccctcgtgtacacgcag	9	11	9	12	3	1	1	1	1	0	0	2	2	1	2	2	1	3	3	2	1	4	5	rs371801091		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:12866250G>A	ENST00000549706.1	+	6	1018	c.694G>A	c.(694-696)Gta>Ata	p.V232I	BEST2_ENST00000553030.1_Missense_Mutation_p.V232I|BEST2_ENST00000042931.1_Missense_Mutation_p.V232I			Q8NFU1	BEST2_HUMAN	bestrophin 2	232					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CTGGATTAGCGTACCCCTCGT	0.507																																						ENST00000549706.1																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						c.(694-696)Gta>Ata		bestrophin 2		G	ILE/VAL	1,4023		0,1,2011	153	149	150		694	0.9	0.8	19		150	0,8342		0,0,4171	no	missense	BEST2	NM_017682.2	29	0,1,6182	AA,AG,GG		0.0,0.0249,0.0081	benign	232/510	12866250	1,12365	2012	4171	6183	SO:0001583	missense	54831				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity	g.chr19:12866250G>A	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17107	protein-coding gene	gene with protein product		607335	"vitelliform macular dystrophy 2-like 1"	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.694G>A	19.37:g.12866250G>A	ENSP00000448310:p.Val232Ile					BEST2_ENST00000553030.1_Missense_Mutation_p.V232I|BEST2_ENST00000042931.1_Missense_Mutation_p.V232I	p.V232I			Q8NFU1	BEST2_HUMAN			6	1018	+			232					Q53YQ8|Q9NXP0	Missense_Mutation	SNP	ENST00000549706.1	37	c.694G>A	CCDS42506.1	.	.	.	.	.	.	.	.	.	.	G	8.073	0.770672	0.15983	2.49E-4	0.0	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.98028	-4.67;-4.67;-4.67	4.13	0.924	0.19418	.	0.077471	0.50627	N	0.000109	D	0.89815	0.6824	N	0.10629	0.01	0.49213	D	0.999767	B	0.09022	0.002	B	0.16289	0.015	T	0.81129	-0.1073	10	0.02654	T	1	-10.5646	8.2563	0.31758	0.2782:0.0:0.7218:0.0	.	232	Q8NFU1	BEST2_HUMAN	I	232	ENSP00000448310:V232I;ENSP00000447203:V232I;ENSP00000042931:V232I	ENSP00000042931:V232I	V	+	1	0	BEST2	12727250	0.770000	0.28543	0.833000	0.33012	0.861000	0.49209	0.943000	0.29030	0.146000	0.19002	0.544000	0.68410	GTA		0.507	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		7	24	0	0	0	1	0	7	24					A	12866250	G	A	12866250	3	1	453	1	0	0	0	0	1	0	0	0	1405	1145	40	1	712	1	BEST2	19	12866250	Missense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08		12866250	46262733	37	31009											
USHBP1	83878	broad.mit.edu	37	chr19	17374839	17374839	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taggccttggccactgacctCctccatggggcccagctgct	5	9	11	16	0	0	1	0	1	0	0	2	1	2	1	6	4	2	2	6	4	1	2			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:17374839C>A	ENST00000252597.3	-	3	348	c.175G>T	c.(175-177)Gag>Tag	p.E59*	USHBP1_ENST00000431146.2_Intron|USHBP1_ENST00000598570.1_Intron	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCACTGACCTCCTCCATGGGG	0.617																																						ENST00000252597.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(175-177)Gag>Tag		Usher syndrome 1C binding protein 1							40	34	36					19																	17374839		2203	4300	6503	SO:0001587	stop_gained	83878						PDZ domain binding	g.chr19:17374839C>A	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.175G>T	19.37:g.17374839C>A	ENSP00000252597:p.Glu59*					USHBP1_ENST00000431146.2_Intron|USHBP1_ENST00000598570.1_Intron	p.E59*	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN			3	348	-			59						Nonsense_Mutation	SNP	ENST00000252597.3	37	c.175G>T	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156143	0.57259	.	.	ENSG00000130307	ENST00000252597;ENST00000324554	.	.	.	2.63	1.56	0.23342	.	0.229900	0.22396	N	0.060609	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-7.4936	7.3558	0.26719	0.0:0.7264:0.2736:0.0	.	.	.	.	X	59	.	ENSP00000252597:E59X	E	-	1	0	USHBP1	17235839	0.014000	0.17966	0.005000	0.12908	0.002000	0.02628	0.725000	0.25970	0.659000	0.30945	-0.302000	0.09304	GAG		0.617	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		3	14	1	0	6.4e-05	1	6.51429e-05	3	14					A	17374839	C	A	17374839	4	1	453	1	0	0	0	0	0	1	0	0	17034	864	30	5	1980	5	USHBP1	19	17374839	Nonsense_Mutation	SNP	C	TCGA-YL-A8S8-01A-11D-A377-08	4508589	17374839	41754144	38	31010											
ZNF676	163223	broad.mit.edu	37	chr19	22363081	22363081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagcctttgccacattcttCacatttgtaaggtttctctg	9	16	6	10	0	3	0	1	0	2	0	4	0	3	0	2	1	2	2	2	1	2	6	rs201042215		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:22363081C>T	ENST00000397121.2	-	3	1755	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCACATTCTTCACATTTGTAA	0.393																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1438-1440)Gaa>Aaa		zinc finger protein 676							96	102	100					19																	22363081		2158	4274	6432	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363081C>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1438G>A	19.37:g.22363081C>T	ENSP00000380310:p.Glu480Lys						p.E480K	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1755	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	480					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1438G>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	3.380	-0.126591	0.06795	.	.	ENSG00000196109	ENST00000397121	T	0.16597	2.33	0.81	-0.534	0.11883	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10723	0.0262	N	0.02665	-0.54	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.20338	-1.0278	9	0.14252	T	0.57	.	0.1503	0.00092	0.2521:0.2552:0.2506:0.2421	.	480	Q8N7Q3	ZN676_HUMAN	K	480	ENSP00000380310:E480K	ENSP00000380310:E480K	E	-	1	0	ZNF676	22154921	0.000000	0.05858	0.078000	0.20375	0.078000	0.17371	-3.316000	0.00515	0.181000	0.19994	0.184000	0.17185	GAA		0.393	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		26	61	0	0	0	1	0	26	61					T	22363081	C	T	22363081	3	4	453	1	0	0	0	0	1	0	0	0	18080	835	29	3	332	3	ZNF676	19	22363081	Missense_Mutation	SNP	C	TCGA-YL-A8S8-01A-11D-A377-08	4988242	22363081	36765902	39	31011											
ZNF675	171392	broad.mit.edu	37	chr19	23836917	23836917	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatgaattatcttatgtGtagtaaggtgtgaggactgg	10	15	13	3	0	1	2	0	2	1	0	1	3	1	3	0	3	0	3	0	3	6	5			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:23836917G>C	ENST00000359788.4	-	4	986	c.818C>G	c.(817-819)aCa>aGa	p.T273R	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	273					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TATCTTATGTGTAGTAAGGTG	0.343																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(817-819)aCa>aGa		zinc finger protein 675							59	63	62					19																	23836917		2201	4297	6498	SO:0001583	missense	171392				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	g.chr19:23836917G>C		CCDS32981.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	30768	protein-coding gene	gene with protein product	"TRAF6 inhibitory zinc finger"					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.818C>G	19.37:g.23836917G>C	ENSP00000352836:p.Thr273Arg					ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	p.T273R	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	986	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	273					Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.818C>G	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.906828	0.00512	.	.	ENSG00000197372	ENST00000359788	T	0.07567	3.18	0.916	-1.83	0.07833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01940	0.0061	N	0.00855	-1.145	0.09310	N	1	B	0.17852	0.024	B	0.22152	0.038	T	0.44159	-0.9346	9	0.13108	T	0.6	.	2.5423	0.04729	0.2422:0.0:0.2581:0.4997	.	273	Q8TD23	ZN675_HUMAN	R	273	ENSP00000352836:T273R	ENSP00000352836:T273R	T	-	2	0	ZNF675	23628757	0.000000	0.05858	0.014000	0.15608	0.013000	0.08279	-8.316000	0.00022	-0.849000	0.04158	-0.856000	0.03024	ACA		0.343	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		3	58	0	0	0	1	0	3	58					C	23836917	G	C	23836917	3	2	453	1	0	0	0	0	1	0	0	0	18079	1377	48	5	892	5	ZNF675	19	23836917	Missense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08	1473836	23836917	35292066	40	31012											
ZNF536	9745	broad.mit.edu	37	chr19	30935384	30935384	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctacaagtgcacgttgtgCgacttcgcggcttcgcagga	7	9	12	13	5	0	0	0	0	0	0	2	2	0	1	1	2	3	4	1	2	2	4	rs551108092		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:30935384C>T	ENST00000355537.3	+	2	1062	c.915C>T	c.(913-915)tgC>tgT	p.C305C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	305					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			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)					GCACGTTGTGCGACTTCGCGG	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		16583	0		0	False		,,,				2504	0					ENST00000355537.3																			0				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						c.(913-915)tgC>tgT		zinc finger protein 536							71	78	76					19																	30935384		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935384C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.915C>T	19.37:g.30935384C>T							p.C305C	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1062	+	Esophageal squamous(110;0.0834)		305					A2RU18	Silent	SNP	ENST00000355537.3	37	c.915C>T	CCDS32984.1																																																																																				0.647	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		42	53	0	0	0	1	0	42	53					T	30935384	C	T	30935384	2	4	453	1	0	0	0	0	0	0	0	1	17971	776	27	1		1	ZNF536	19	30935384	Silent	SNP	C	TCGA-YL-A8S8-01A-11D-A377-08	7098467	30935384	28193599	41	31013											
LENG8	114823	broad.mit.edu	37	chr19	54965662	54965662	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccaggctccccctcagcaGctgccgtcggctcagccccc	5	6	9	21	2	2	0	2	0	0	0	4	0	3	0	6	2	5	4	6	2	1	1			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:54965662G>A	ENST00000326764.5	+	6	959	c.480G>A	c.(478-480)caG>caA	p.Q160Q	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	123										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)		CCCCTCAGCAGCTGCCGTCGG	0.657																																						ENST00000326764.5																			0				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						c.(478-480)caG>caA		leukocyte receptor cluster (LRC) member 8							32	35	34					19																	54965662		2203	4300	6503	SO:0001819	synonymous_variant	114823						protein binding	g.chr19:54965662G>A	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.480G>A	19.37:g.54965662G>A						LENG8_ENST00000376514.2_Intron	p.Q160Q	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	6	959	+	Ovarian(34;0.19)		123					B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	ENST00000326764.5	37	c.480G>A	CCDS12894.1																																																																																				0.657	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		3	28	0	0	0	1	0	3	28					A	54965662	G	A	54965662	2	1	453	1	0	0	0	0	0	0	0	1	8724	962	34	3		3	LENG8	19	54965662	Silent	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08	24030278	54965662	4163321	42	31014											
SLC27A5	10998	broad.mit.edu	37	chr19	59012735	59012735	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgacagtcatcccagAagcaggaagtagagaacttg	13	6	12	10	1	1	2	1	0	0	2	2	5	2	3	2	1	3	3	2	1	4	2			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:59012735A>T	ENST00000263093.2	-	4	1209	c.1100T>A	c.(1099-1101)tTc>tAc	p.F367Y	SLC27A5_ENST00000601355.1_Missense_Mutation_p.F283Y|SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000599700.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	367					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GTCATCCCAGAAGCAGGAAGT	0.532																																						ENST00000263093.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1099-1101)tTc>tAc		solute carrier family 27 (fatty acid transporter), member 5							86	85	86					19																	59012735		2203	4300	6503	SO:0001583	missense	10998				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	g.chr19:59012735A>T	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1100T>A	19.37:g.59012735A>T	ENSP00000263093:p.Phe367Tyr					SLC27A5_ENST00000601355.1_Missense_Mutation_p.F283Y	p.F367Y	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	4	1209	-		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)	367					B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1100T>A	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.475268	0.84640	.	.	ENSG00000083807	ENST00000263093	T	0.42900	0.96	4.9	3.87	0.44632	AMP-dependent synthetase/ligase (1);	0.110859	0.64402	N	0.000008	T	0.47655	0.1457	M	0.64676	1.99	0.34566	D	0.712878	P	0.35944	0.529	P	0.46585	0.521	T	0.58885	-0.7557	10	0.45353	T	0.12	-23.1816	8.258	0.31769	0.8237:0.0:0.0:0.1763	.	367	Q9Y2P5	S27A5_HUMAN	Y	367	ENSP00000263093:F367Y	ENSP00000263093:F367Y	F	-	2	0	SLC27A5	63704547	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	6.172000	0.71932	0.795000	0.33922	0.460000	0.39030	TTC		0.532	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		22	49	0	0	0	1	0	22	49					T	59012735	A	T	59012735	3	4	453	1	0	0	0	0	1	0	0	0	14529	246	9	5	1000	5	SLC27A5	19	59012735	Missense_Mutation	SNP	A	TCGA-YL-A8S8-01A-11D-A377-08	4047073	59012735	116248	43	31015											
RIN2	54453	broad.mit.edu	37	chr20	19956216	19956216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggagaagcggatggtccGcaggatcgccgagctttccc	7	6	14	14	5	0	1	0	0	0	1	3	5	2	3	4	4	2	2	4	4	1	1	rs369408237		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr20:19956216G>A	ENST00000255006.6	+	8	1843	c.1694G>A	c.(1693-1695)cGc>cAc	p.R565H	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	516					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CGGATGGTCCGCAGGATCGCC	0.602																																						ENST00000255006.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.(1693-1695)cGc>cAc		Ras and Rab interactor 2		G	HIS/ARG,HIS/ARG	1,4053		0,1,2026	80	88	85		1547,1694	4.9	0.9	20		85	0,8354		0,0,4177	no	missense,missense	RIN2	NM_018993.3,NM_001242581.1	29,29	0,1,6203	AA,AG,GG		0.0,0.0247,0.0081	benign,benign	516/896,565/945	19956216	1,12407	2027	4177	6204	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19956216G>A	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1694G>A	20.37:g.19956216G>A	ENSP00000255006:p.Arg565His					RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	p.R565H	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN			8	1843	+			516					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.1694G>A	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651048	0.29336	2.47E-4	0.0	ENSG00000132669	ENST00000255006	T	0.09163	3.01	5.94	4.91	0.64330	.	0.706455	0.12252	N	0.485559	T	0.08935	0.0221	L	0.46157	1.445	0.32405	N	0.551468	B	0.26041	0.14	B	0.14023	0.01	T	0.08785	-1.0705	9	.	.	.	-20.5401	4.2184	0.10545	0.3024:0.0:0.6976:0.0	.	516	Q8WYP3	RIN2_HUMAN	H	565	ENSP00000255006:R565H	.	R	+	2	0	RIN2	19904216	0.516000	0.26218	0.910000	0.35882	0.508000	0.34012	2.957000	0.49137	2.821000	0.97095	0.655000	0.94253	CGC		0.602	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			4	95	0	0	0	1	0	4	95					A	19956216	G	A	19956216	3	1	453	1	0	0	0	0	1	0	0	0	13372	1087	38	1	1573	1	RIN2	20	19956216	Missense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08		19956216	43069304	44	31016											
TGIF2	60436	broad.mit.edu	37	chr20	35207278	35207278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcggtgaagatcctccGggactggctgtacttgcacc	7	9	14	11	2	0	2	0	1	0	1	3	4	2	4	3	4	2	3	3	4	2	2			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr20:35207278G>A	ENST00000373874.2	+	2	300	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.R34Q|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R34Q	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	34					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AAGATCCTCCGGGACTGGCTG	0.592																																						ENST00000373874.2																			0				cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14						c.(100-102)cGg>cAg		TGFB-induced factor homeobox 2							126	107	114					20																	35207278		2203	4300	6503	SO:0001583	missense	60436					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:35207278G>A	AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"Homeoboxes / TALE class"	15764	protein-coding gene	gene with protein product		607294	"TGFB-induced factor 2 (TALE family homeobox)"			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.101G>A	20.37:g.35207278G>A	ENSP00000362981:p.Arg34Gln					TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R34Q|RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.R34Q	p.R34Q	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN			2	300	+	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)	34					B2R9U3|E1P5T9|H0YNI0	Missense_Mutation	SNP	ENST00000373874.2	37	c.101G>A	CCDS13278.1	.	.	.	.	.	.	.	.	.	.	G	35	5.576827	0.96565	.	.	ENSG00000118707	ENST00000373874;ENST00000373872	D;D	0.83914	-1.78;-1.78	5.01	5.01	0.66863	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.86435	0.5932	L	0.52905	1.665	0.28613	N	0.908575	D	0.60160	0.987	P	0.55508	0.777	T	0.83119	-0.0119	10	0.87932	D	0	-21.016	15.8254	0.78703	0.0:0.0:1.0:0.0	.	34	Q9GZN2	TGIF2_HUMAN	Q	34	ENSP00000362981:R34Q;ENSP00000362979:R34Q	ENSP00000362979:R34Q	R	+	2	0	TGIF2	34640692	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.499000	0.81566	2.316000	0.78162	0.561000	0.74099	CGG		0.592	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079004.2	NM_021809		21	66	0	0	0	1	0	21	66					A	35207278	G	A	35207278	3	1	453	1	0	0	0	0	1	0	0	0	15823	1116	39	2	103	2	TGIF2	20	35207278	Missense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08	15251062	35207278	27818242	45	31017											
DIP2A	23181	broad.mit.edu	37	chr21	47987298	47987298	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcagtgccgtattcacctgGaccaacctgctggtggtggt	6	11	13	11	1	1	0	1	0	0	0	1	1	1	1	4	4	4	3	4	4	2	2			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr21:47987298G>A	ENST00000417564.2	+	38	4500	c.4479G>A	c.(4477-4479)tgG>tgA	p.W1493*	DIP2A_ENST00000400274.1_Nonsense_Mutation_p.W1489*|DIP2A_ENST00000318711.7_Nonsense_Mutation_p.W1494*|DIP2A_ENST00000479654.1_3'UTR			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1493					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			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)		TATTCACCTGGACCAACCTGC	0.592																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(4480-4482)tgG>tgA		DIP2 disco-interacting protein 2 homolog A (Drosophila)							86	91	90					21																	47987298		2203	4300	6503	SO:0001587	stop_gained	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47987298G>A	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.4479G>A	21.37:g.47987298G>A	ENSP00000392066:p.Trp1493*					DIP2A_ENST00000400274.1_Nonsense_Mutation_p.W1489*|DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000417564.2_Nonsense_Mutation_p.W1493*	p.W1494*	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		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)	38	4665	+	Breast(49;0.0933)		1493					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Nonsense_Mutation	SNP	ENST00000417564.2	37	c.4482G>A	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	46	12.724119	0.99691	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000417564	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8398	19.0426	0.93006	0.0:0.0:1.0:0.0	.	.	.	.	X	1489;1494;1493	.	ENSP00000323633:W1494X	W	+	3	0	DIP2A	46811726	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.627000	0.98412	2.748000	0.94277	0.655000	0.94253	TGG		0.592	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		18	79	0	0	0	1	0	18	79					A	47987298	G	A	47987298	4	1	453	1	0	0	0	0	0	1	0	0	4527	1183	41	3	4742	3	DIP2A	21	47987298	Nonsense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08		47987298	142597	46	31018											
MID1	4281	broad.mit.edu	37	chrX	10417583	10417583	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcgatagagccgttatcaTagtccagcaggatgcccacg	11	7	12	11	3	1	1	1	0	0	1	2	3	2	2	3	2	3	2	3	2	3	3			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chrX:10417583T>C	ENST00000317552.4	-	10	2229	c.1829A>G	c.(1828-1830)tAt>tGt	p.Y610C	MID1_ENST00000380779.1_Missense_Mutation_p.Y610C|MID1_ENST00000380780.1_Missense_Mutation_p.Y610C|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000453318.2_Missense_Mutation_p.Y610C|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380785.1_Missense_Mutation_p.Y610C|MID1_ENST00000380787.1_Missense_Mutation_p.Y610C	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	610	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCGTTATCATAGTCCAGCAG	0.557																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1828-1830)tAt>tGt		midline 1 (Opitz/BBB syndrome)							125	94	105					X																	10417583		2203	4300	6503	SO:0001583	missense	0				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	g.chrX:10417583T>C	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7095	protein-coding gene	gene with protein product	"Opitz/BBB syndrome"	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1829A>G	X.37:g.10417583T>C	ENSP00000312678:p.Tyr610Cys					MID1_ENST00000380779.1_Missense_Mutation_p.Y610C|MID1_ENST00000380780.1_Missense_Mutation_p.Y610C|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380785.1_Missense_Mutation_p.Y610C|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380787.1_Missense_Mutation_p.Y610C|MID1_ENST00000453318.2_Missense_Mutation_p.Y610C	p.Y610C	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN			10	2229	-			610			B30.2/SPRY.		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.1829A>G	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468139	0.63625	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000454373	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.68796	0.3040	L	0.52573	1.65	0.80722	D	1	P;P;P	0.40066	0.701;0.569;0.557	P;P;P	0.53912	0.737;0.599;0.617	T	0.63739	-0.6569	10	0.18276	T	0.48	.	14.7167	0.69275	0.0:0.0:0.0:1.0	.	610;610;560	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	C	610;610;610;610;610;610;560	ENSP00000414521:Y610C;ENSP00000312678:Y610C;ENSP00000370162:Y610C;ENSP00000370156:Y610C;ENSP00000370164:Y610C;ENSP00000370157:Y610C	ENSP00000312678:Y610C	Y	-	2	0	MID1	10377583	1.000000	0.71417	0.977000	0.42913	0.785000	0.44390	7.538000	0.82048	1.857000	0.53885	0.345000	0.21793	TAT		0.557	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			29	15	0	0	0	1	0	29	15					C	10417583	T	C	10417583	3	2	453	1	0	0	0	0	1	0	0	0	9576	1406	49	4	178	4	MID1	23	10417583	Missense_Mutation	SNP	T	TCGA-YL-A8S8-01A-11D-A377-08		10417583	144852977	47	31019											
HTATSF1	27336	broad.mit.edu	37	chrX	135593232	135593232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggggagaatttgaagaagGtgcttctgaaaacaatgcta	14	10	13	4	0	1	4	0	2	1	2	1	5	1	4	0	3	3	2	0	3	7	3			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chrX:135593232G>A	ENST00000218364.4	+	9	1502	c.1328G>A	c.(1327-1329)gGt>gAt	p.G443D	HTATSF1_ENST00000535601.1_Missense_Mutation_p.G443D	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	443	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			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)					TTTGAAGAAGGTGCTTCTGAA	0.428																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(1327-1329)gGt>gAt		HIV-1 Tat specific factor 1							91	101	97					X																	135593232		2202	4299	6501	SO:0001583	missense	27336				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	g.chrX:135593232G>A	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1328G>A	X.37:g.135593232G>A	ENSP00000218364:p.Gly443Asp					HTATSF1_ENST00000218364.4_Missense_Mutation_p.G443D	p.G443D	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			10	1750	+	Acute lymphoblastic leukemia(192;0.000127)		443			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.1328G>A	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.459679	0.01062	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.19669	2.13;2.13	5.49	-3.36	0.04913	.	1.339880	0.04254	N	0.339135	T	0.06872	0.0175	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31806	-0.9930	10	0.08179	T	0.78	-1.0468	6.1437	0.20273	0.4184:0.2494:0.3322:0.0	.	443	O43719	HTSF1_HUMAN	D	443	ENSP00000442699:G443D;ENSP00000218364:G443D	ENSP00000218364:G443D	G	+	2	0	HTATSF1	135420898	0.001000	0.12720	0.048000	0.18961	0.705000	0.40729	0.220000	0.17660	-0.580000	0.05944	-0.529000	0.04317	GGT		0.428	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		3	53	0	0	0	1	0	3	53					A	135593232	G	A	135593232	3	1	453	1	0	0	0	0	1	0	0	0	7433	1261	44	3	1362	3	HTATSF1	23	135593232	Missense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08	125175649	135593232	19677328	48	31020											
PTPRU	10076	broad.mit.edu	37	chr1	29638247	29638247	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaccctggctgagtatgtCgtgcgcacttttgccctgga	6	11	13	11	2	0	2	0	1	0	1	1	4	0	3	2	2	2	3	2	2	1	3			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr1:29638247C>T	ENST00000345512.3	+	22	3207	c.3078C>T	c.(3076-3078)gtC>gtT	p.V1026V	PTPRU_ENST00000323874.8_Silent_p.V1022V|PTPRU_ENST00000373779.3_Silent_p.V1016V|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Silent_p.V1013V|PTPRU_ENST00000356870.3_Silent_p.V1022V|PTPRU_ENST00000460170.2_Silent_p.V1022V	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1026	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			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)		CTGAGTATGTCGTGCGCACTT	0.602																																						ENST00000373779.3																			0				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						c.(3046-3048)gtC>gtT		protein tyrosine phosphatase, receptor type, U							145	129	135					1																	29638247		2203	4300	6503	SO:0001819	synonymous_variant	10076				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	g.chr1:29638247C>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3078C>T	1.37:g.29638247C>T						PTPRU_ENST00000460170.2_Silent_p.V1022V|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000345512.3_Silent_p.V1026V|PTPRU_ENST00000356870.3_Silent_p.V1022V|PTPRU_ENST00000323874.8_Silent_p.V1022V|PTPRU_ENST00000428026.2_Silent_p.V1013V	p.V1016V	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		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)	21	3177	+		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)	1026			Tyrosine-protein phosphatase 1.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	c.3048C>T	CCDS334.1																																																																																				0.602	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			46	84	0	0	0	1	0	46	84					T	29638247	C	T	29638247	2	4	454	1	0	0	0	0	0	0	0	1	12813	871	31	2		2	PTPRU	1	29638247	Silent	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08		29638247	219612374	1	31021											
THBS3	7059	broad.mit.edu	37	chr1	155173034	155173034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtctcgtatatcatcccGcagctccaccaggatctggt	7	11	9	14	2	3	0	1	0	2	0	6	1	5	1	3	3	1	3	3	3	2	2			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr1:155173034G>A	ENST00000368378.3	-	6	756	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.R126W|THBS3_ENST00000486260.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	246					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			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)			ATATCATCCCGCAGCTCCACC	0.602																																						ENST00000368378.3																			0				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						c.(736-738)Cgg>Tgg		thrombospondin 3							86	80	82					1																	155173034		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155173034G>A	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.736C>T	1.37:g.155173034G>A	ENSP00000357362:p.Arg246Trp					RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000487250.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.R126W|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000428962.2_Intron|THBS3_ENST00000541990.1_5'UTR	p.R246W	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	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)		6	756	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		246					B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.736C>T	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233917	0.79688	.	.	ENSG00000169231	ENST00000368378;ENST00000457183	T;T	0.50277	0.75;0.75	5.87	4.9	0.64082	Thrombospondin/cartilage oligomeric matrix protein, coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.987;0.989;0.978;0.989	T	0.58272	-0.7665	10	0.87932	D	0	-28.3225	11.6761	0.51430	0.0:0.0:0.7244:0.2756	.	126;246;246;246	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	W	246;126	ENSP00000357362:R246W;ENSP00000392207:R126W	ENSP00000357362:R246W	R	-	1	2	THBS3	153439658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.857000	0.39399	2.941000	0.99782	0.655000	0.94253	CGG		0.602	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		10	20	0	0	0	1	0	10	20					A	155173034	G	A	155173034	3	1	454	1	0	0	0	0	1	0	0	0	15852	1086	38	1	2206	1	THBS3	1	155173034	Missense_Mutation	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08	125534787	155173034	94077587	2	31022											
ATF2	1386	broad.mit.edu	37	chr2	175962238	175962238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagattcctctgactgagtCctaaccaatccgctaccatg	10	10	7	14	2	1	3	0	2	1	1	4	4	4	3	5	0	2	1	5	0	3	3			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr2:175962238C>A	ENST00000264110.2	-	11	1210	c.912G>T	c.(910-912)agG>agT	p.R304S	ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409437.1_Missense_Mutation_p.R188S|ATF2_ENST00000538946.1_Missense_Mutation_p.R286S|ATF2_ENST00000426833.3_Missense_Mutation_p.R286S|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.R246S|ATF2_ENST00000392544.1_Missense_Mutation_p.R304S|ATF2_ENST00000409635.1_Missense_Mutation_p.R246S|ATF2_ENST00000487334.2_3'UTR	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	304					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	CTGACTGAGTCCTAACCAATC	0.453																																					Pancreas(17;87 705 4534 15538 30988)	ENST00000264110.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17						c.(910-912)agG>agT		activating transcription factor 2							160	136	144					2																	175962238		2203	4300	6503	SO:0001583	missense	1386				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	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:175962238C>A	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"basic leucine zipper proteins"	784	protein-coding gene	gene with protein product		123811	"cAMP responsive element binding protein 2"	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.912G>T	2.37:g.175962238C>A	ENSP00000264110:p.Arg304Ser					ATF2_ENST00000409635.1_Missense_Mutation_p.R246S|ATF2_ENST00000538946.1_Missense_Mutation_p.R286S|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.R246S|ATF2_ENST00000426833.3_Missense_Mutation_p.R286S|ATF2_ENST00000409437.1_Missense_Mutation_p.R188S|ATF2_ENST00000392544.1_Missense_Mutation_p.R304S|ATF2_ENST00000487334.2_3'UTR	p.R304S	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		11	1210	-			304					A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	c.912G>T	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	C	6.315	0.426141	0.11987	.	.	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946	T;T;T;T;T;T;T	0.75938	-0.98;0.61;-0.48;0.61;-0.98;-0.98;-0.55	5.78	1.92	0.25849	.	0.251730	0.36893	N	0.002348	T	0.44582	0.1300	N	0.03608	-0.345	0.34123	D	0.664372	B;B;B;B	0.19817	0.039;0.033;0.001;0.002	B;B;B;B	0.15052	0.012;0.006;0.002;0.002	T	0.43310	-0.9399	10	0.08179	T	0.78	-8.7081	9.4587	0.38772	0.0:0.643:0.0:0.3569	.	286;281;246;304	A4D7U4;B3KY57;Q3B7B7;P15336	.;.;.;ATF2_HUMAN	S	304;246;281;188;246;304;286;286	ENSP00000264110:R304S;ENSP00000340576:R246S;ENSP00000386326:R188S;ENSP00000387093:R246S;ENSP00000376327:R304S;ENSP00000407911:R286S;ENSP00000437952:R286S	ENSP00000264110:R304S	R	-	3	2	ATF2	175670484	0.984000	0.35163	0.999000	0.59377	0.758000	0.43043	0.161000	0.16481	0.340000	0.23745	-0.145000	0.13849	AGG		0.453	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880		44	52	1	0	2.77807e-22	1	3.09257e-22	44	52					A	175962238	C	A	175962238	3	1	454	1	0	0	0	0	1	0	0	0	1080	854	30	5	621	5	ATF2	2	175962238	Missense_Mutation	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08		175962238	67237135	3	31023											
ITGA4	3676	broad.mit.edu	37	chr2	182339937	182339937	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acataaagaatgaaaataagCtccccactggtggttgctat	15	10	8	8	0	0	2	0	1	0	1	1	2	1	2	2	2	2	3	2	2	7	4			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr2:182339937C>A	ENST00000397033.2	+	4	908	c.478C>A	c.(478-480)Ctc>Atc	p.L160I	ITGA4_ENST00000339307.4_Missense_Mutation_p.L160I|ITGA4_ENST00000478440.1_Intron	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	160					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TGAAAATAAGCTCCCCACTGG	0.383																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(478-480)Ctc>Atc		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						97	96	96					2																	182339937		1825	4086	5911	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182339937C>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.478C>A	2.37:g.182339937C>A	ENSP00000380227:p.Leu160Ile					ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Missense_Mutation_p.L160I	p.L160I	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		4	908	+			160					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.478C>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832852	0.91036	.	.	ENSG00000115232	ENST00000425522;ENST00000339307;ENST00000397033;ENST00000233573	T;T;T	0.42131	1.91;0.98;0.98	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.65626	0.2709	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.89917	0.995;1.0	D;D	0.83275	0.925;0.996	T	0.66320	-0.5953	10	0.56958	D	0.05	.	18.5676	0.91121	0.0:1.0:0.0:0.0	.	160;160	E7EP60;P13612	.;ITA4_HUMAN	I	160	ENSP00000340149:L160I;ENSP00000380227:L160I;ENSP00000233573:L160I	ENSP00000233573:L160I	L	+	1	0	ITGA4	182048182	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.427000	0.52785	2.695000	0.91970	0.650000	0.86243	CTC		0.383	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			41	52	1	0	6.1244e-12	1	6.4525e-12	41	52					A	182339937	C	A	182339937	3	1	454	1	0	0	0	0	1	0	0	0	7878	797	28	5	492	5	ITGA4	2	182339937	Missense_Mutation	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08	6377699	182339937	60859436	4	31024											
DOCK10	55619	broad.mit.edu	37	chr2	225698898	225698898	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctttactgttgttgagtcaTttgatttcaaaagaccagtc	10	16	8	7	0	2	3	2	2	0	1	3	3	2	3	1	0	1	3	1	0	3	6			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr2:225698898T>A	ENST00000258390.7	-	26	3000	c.2933A>T	c.(2932-2934)aAt>aTt	p.N978I	DOCK10_ENST00000409592.3_Missense_Mutation_p.N972I	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	978					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		TGTTGAGTCATTTGATTTCAA	0.403																																						ENST00000409592.3																			0				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						c.(2914-2916)aAt>aTt		dedicator of cytokinesis 10							122	122	122					2																	225698898		2025	4197	6222	SO:0001583	missense	55619						GTP binding	g.chr2:225698898T>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.2933A>T	2.37:g.225698898T>A	ENSP00000258390:p.Asn978Ile					DOCK10_ENST00000258390.7_Missense_Mutation_p.N978I	p.N972I			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	26	3028	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	978					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.2915A>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098850	0.76870	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.65549	3.54;-0.16	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78947	0.4364	M	0.73319	2.225	0.46823	D	0.999211	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.981	T	0.79619	-0.1728	10	0.54805	T	0.06	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	978;972	Q96BY6;B3FL70	DOC10_HUMAN;.	I	972;978	ENSP00000386694:N972I;ENSP00000258390:N978I	ENSP00000258390:N978I	N	-	2	0	DOCK10	225407142	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.277000	0.72608	2.371000	0.80710	0.533000	0.62120	AAT		0.403	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			33	35	0	0	0	1	0	33	35					A	225698898	T	A	225698898	3	1	454	1	0	0	0	0	1	0	0	0	4685	1493	52	5	3751	5	DOCK10	2	225698898	Missense_Mutation	SNP	T	TCGA-YL-A8S9-01A-11D-A377-08	43358961	225698898	17500475	5	31025											
STXBP5L	9515	broad.mit.edu	37	chr3	120976076	120976076	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccagaaacaagtcctccGtttccagatctctcagccca	12	8	6	15	1	2	2	1	0	1	2	6	3	5	2	5	0	3	1	5	0	3	1			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr3:120976076G>A	ENST00000273666.6	+	17	1999	c.1728G>A	c.(1726-1728)ccG>ccA	p.P576P	STXBP5L_ENST00000497029.1_Silent_p.P576P|STXBP5L_ENST00000492541.1_Silent_p.P576P|STXBP5L_ENST00000472879.1_Silent_p.P576P|STXBP5L_ENST00000471454.1_Silent_p.P576P	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	576					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CAAGTCCTCCGTTTCCAGATC	0.393																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1726-1728)ccG>ccA		syntaxin binding protein 5-like							121	118	119					3																	120976076		1846	4086	5932	SO:0001819	synonymous_variant	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120976076G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1728G>A	3.37:g.120976076G>A						STXBP5L_ENST00000472879.1_Silent_p.P576P|STXBP5L_ENST00000471454.1_Silent_p.P576P|STXBP5L_ENST00000492541.1_Silent_p.P576P|STXBP5L_ENST00000497029.1_Silent_p.P576P	p.P576P	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	17	1999	+			576					Q4G1B4|Q6PIC3	Silent	SNP	ENST00000273666.6	37	c.1728G>A	CCDS43137.1																																																																																				0.393	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			8	131	0	0	0	1	0	8	131					A	120976076	G	A	120976076	2	1	454	1	0	0	0	0	0	0	0	1	15356	1132	40	1		1	STXBP5L	3	120976076	Silent	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08		120976076	77046354	6	31026											
RBP1	5947	broad.mit.edu	37	chr3	139258317	139258318	+	Frame_Shift_Del	DEL	AC	AC	-																															cttaccgagggcgcgcaggtActcctcgaaattctcgttga																										TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr3:139258317_139258318delAC	ENST00000483943.2	-	1	243_244	c.243_244delGT	c.(241-246)gagtacfs	p.Y82fs	RBP1_ENST00000492918.1_Frame_Shift_Del_p.Y82fs|RP11-319G6.1_ENST00000381790.3_RNA|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000232219.2_Frame_Shift_Del_p.Y82fs	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	20					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	GCGCGCAGGTACTCCTCGAAAT	0.673																																						ENST00000483943.2																			0				endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(241-246)gaacfs		retinol binding protein 1, cellular	Vitamin A(DB00162)																																			SO:0001589	frameshift_variant	5947					cytoplasm	retinal binding|retinol binding|transporter activity	g.chr3:139258317_139258318delAC		CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"Fatty acid binding protein family"	9919	protein-coding gene	gene with protein product		180260	"retinol-binding protein 1, cellular"			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000483943.2:c.243_244delGT	3.37:g.139258317_139258318delAC	ENSP00000424813:p.Tyr82fs					RBP1_ENST00000492918.1_Frame_Shift_Del_p.EY81fs|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000232219.2_Frame_Shift_Del_p.EY81fs	p.EY81fs	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN			1	243_244	-			19					A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Frame_Shift_Del	DEL	ENST00000483943.2	37	c.243_244delGT	CCDS46925.1																																																																																				0.673	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341497.2	NM_002899		11	2						11	2	---	---	---	---	-	139258318	AC	-	139258317	7	5	454	1	0	1	0	1	0	0	0	0	13155	391	14	0	433	0	RBP1	3	139258317	Frame_Shift_Del	DEL	AC	TCGA-YL-A8S9-01A-11D-A377-08	18282241	139258317	58764113	7	31027											
SLC34A2	10568	broad.mit.edu	37	chr4	25673235	25673235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccagacccagattaacGtcactgttccctcgactgct	9	11	6	15	2	2	2	2	0	0	2	5	3	4	2	3	0	2	2	3	0	1	2	rs371683311		TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr4:25673235G>A	ENST00000382051.3	+	9	990	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	SLC34A2_ENST00000503434.1_Missense_Mutation_p.V313I|SLC34A2_ENST00000504570.1_Missense_Mutation_p.V313I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	314					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCAGATTAACGTCACTGTTCC	0.522			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(940-942)Gtc>Atc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2		G	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	407	331	357		937,937,940	3.5	0.8	4		357	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SLC34A2	NM_001177998.1,NM_001177999.1,NM_006424.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	313/690,313/690,314/691	25673235	1,13005	2203	4300	6503	SO:0001583	missense	10568				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	g.chr4:25673235G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.940G>A	4.37:g.25673235G>A	ENSP00000371483:p.Val314Ile					SLC34A2_ENST00000504570.1_Missense_Mutation_p.V313I|SLC34A2_ENST00000503434.1_Missense_Mutation_p.V313I	p.V314I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			9	990	+		Breast(46;0.0503)	314					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.940G>A	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	5.814	0.334544	0.11013	0.0	1.16E-4	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.24723	1.84;1.85;1.84	5.23	3.51	0.40186	.	0.187765	0.45606	N	0.000349	T	0.19287	0.0463	L	0.41573	1.285	0.45676	D	0.99859	B;B	0.17852	0.024;0.006	B;B	0.17722	0.019;0.005	T	0.04976	-1.0914	10	0.27785	T	0.31	-46.8995	8.6736	0.34165	0.2343:0.0:0.7657:0.0	.	313;314	O95436-2;O95436	.;NPT2B_HUMAN	I	313;314;313	ENSP00000425501:V313I;ENSP00000371483:V314I;ENSP00000423021:V313I	ENSP00000371483:V314I	V	+	1	0	SLC34A2	25282333	1.000000	0.71417	0.759000	0.31340	0.006000	0.05464	4.043000	0.57354	0.723000	0.32274	-0.254000	0.11334	GTC		0.522	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		79	94	0	0	0	1	0	79	94					A	25673235	G	A	25673235	3	1	454	1	0	0	0	0	1	0	0	0	14568	1145	40	1	970	1	SLC34A2	4	25673235	Missense_Mutation	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08		25673235	165481041	8	31028											
ANKHD1	54882	broad.mit.edu	37	chr5	139907827	139907827	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaatgcactcattcaagatCctgctaaggaactggaagac	14	9	8	10	0	3	2	3	0	0	2	4	4	4	4	1	2	3	2	1	2	5	2			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr5:139907827C>A	ENST00000360839.2	+	29	5450	c.5296C>A	c.(5296-5298)Cct>Act	p.P1766T	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1766T|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P149T|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Missense_Mutation_p.P1766T	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1766						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTCAAGATCCTGCTAAGGA	0.383																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(5296-5298)Cct>Act		ankyrin repeat and KH domain containing 1							82	79	80					5																	139907827		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139907827C>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5296C>A	5.37:g.139907827C>A	ENSP00000354085:p.Pro1766Thr					ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1766T|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P149T|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1766T	p.P1766T	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	5420	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.5296C>A	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.08|17.08	3.298792|3.298792	0.60195|0.60195	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219|ENST00000435794;ENST00000432301	T;T;T;T;T;T|.	0.63417|.	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74038|0.74038	0.3664|0.3664	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.997;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.83275|.	0.972;0.996;0.996;0.994;0.994|.	T|T	0.72928|0.72928	-0.4143|-0.4143	10|5	0.72032|.	D|.	0.01|.	.|.	18.3876|18.3876	0.90471|0.90471	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	149;196;1766;1766;1766|.	Q8IWG5;Q9H059;E9PF56;Q8IWZ2;Q8IWZ3|.	.;.;.;.;ANKH1_HUMAN|.	T|Y	1766;1766;1766;422;201;288;149;1766|256;216	ENSP00000354085:P1766T;ENSP00000297183:P1766T;ENSP00000393204:P422T;ENSP00000390034:P288T;ENSP00000437687:P149T;ENSP00000432016:P1766T|.	ENSP00000432016:P1766T|.	P|S	+|+	1|2	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139888011|139888011	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.278000|7.278000	0.78587|0.78587	2.646000|2.646000	0.89796|0.89796	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.383	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		28	39	1	0	7.26314e-15	1	7.79137e-15	28	39					A	139907827	C	A	139907827	3	1	454	1	0	0	0	0	1	0	0	0	628	855	30	5	5516	5	ANKHD1	5	139907827	Missense_Mutation	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08		139907827	41007433	9	31029											
FAT2	2196	broad.mit.edu	37	chr5	150885275	150885275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcccagctcggctgaggcGcatacccacccccttgtagc	6	6	12	17	2	0	1	0	1	0	0	1	1	0	1	4	3	3	4	4	3	2	3			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr5:150885275G>A	ENST00000261800.5	-	23	12913	c.12901C>T	c.(12901-12903)Cgc>Tgc	p.R4301C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4301					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			CGGCTGAGGCGCATACCCACC	0.667																																						ENST00000261800.5																			0				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						c.(12901-12903)Cgc>Tgc		FAT atypical cadherin 2							33	37	36					5																	150885275		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150885275G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12901C>T	5.37:g.150885275G>A	ENSP00000261800:p.Arg4301Cys						p.R4301C	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	12913	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4301					O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.12901C>T	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.19|18.19	3.569281|3.569281	0.65765|0.65765	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.78126	.|-1.15	4.81|4.81	2.85|2.85	0.33270|0.33270	.|.	.|0.000000	.|0.56097	.|D	.|0.000034	D|D	0.84492|0.84492	0.5484|0.5484	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.997;0.999	D|D	0.85481|0.85481	0.1179|0.1179	5|10	.|0.72032	.|D	.|0.01	.|.	12.8791|12.8791	0.58008|0.58008	0.0:0.0:0.7042:0.2958|0.0:0.0:0.7042:0.2958	.|.	.|4301;1406	.|Q9NYQ8;E9PDJ8	.|FAT2_HUMAN;.	V|C	1073|4301	.|ENSP00000261800:R4301C	.|ENSP00000261800:R4301C	A|R	-|-	2|1	0|0	FAT2|FAT2	150865468|150865468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.614000|0.614000	0.37383|0.37383	4.947000|4.947000	0.63583|0.63583	0.985000|0.985000	0.38656|0.38656	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.667	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		3	43	0	0	0	1	0	3	43					A	150885275	G	A	150885275	3	1	454	1	0	0	0	0	1	0	0	0	5690	1087	38	1	152	1	FAT2	5	150885275	Missense_Mutation	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08	10977448	150885275	30029985	10	31030											
GRM1	2911	broad.mit.edu	37	chr6	146625847	146625847	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccagaggtcaggtcatttGatgattatttcctgaaactg	10	14	9	8	0	2	4	2	3	0	1	4	4	4	4	2	2	1	0	2	2	2	3			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr6:146625847G>C	ENST00000282753.1	+	3	1286	c.1051G>C	c.(1051-1053)Gat>Cat	p.D351H	GRM1_ENST00000507907.1_Missense_Mutation_p.D351H|GRM1_ENST00000355289.4_Missense_Mutation_p.D351H|GRM1_ENST00000361719.2_Missense_Mutation_p.D351H|GRM1_ENST00000392299.2_Missense_Mutation_p.D351H|GRM1_ENST00000492807.2_Missense_Mutation_p.D351H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	351					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			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)		CAGGTCATTTGATGATTATTT	0.507																																						ENST00000392299.2																			0				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						c.(1051-1053)Gat>Cat		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						121	101	108					6																	146625847		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146625847G>C	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1051G>C	6.37:g.146625847G>C	ENSP00000282753:p.Asp351His					GRM1_ENST00000492807.2_Missense_Mutation_p.D351H|GRM1_ENST00000355289.4_Missense_Mutation_p.D351H|GRM1_ENST00000361719.2_Missense_Mutation_p.D351H|GRM1_ENST00000282753.1_Missense_Mutation_p.D351H|GRM1_ENST00000507907.1_Missense_Mutation_p.D351H	p.D351H			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	4	1521	+		Ovarian(120;0.0387)	351					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1051G>C	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588206	0.86851	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	6.06	6.06	0.98353	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90390	0.6992	M	0.75777	2.31	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.999	D;D;D	0.70716	0.97;0.947;0.959	D	0.90043	0.4143	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	351;351;351	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	H	351	ENSP00000354896:D351H;ENSP00000376119:D351H;ENSP00000424095:D351H;ENSP00000282753:D351H;ENSP00000347437:D351H;ENSP00000425599:D351H	ENSP00000282753:D351H	D	+	1	0	GRM1	146667540	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.984000	0.88150	2.880000	0.98712	0.650000	0.86243	GAT		0.507	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		11	12	0	0	0	1	0	11	12					C	146625847	G	C	146625847	3	2	454	1	0	0	0	0	1	0	0	0	6796	1290	45	5	1061	5	GRM1	6	146625847	Missense_Mutation	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08		146625847	24489220	11	31031											
FOXP2	93986	broad.mit.edu	37	chr7	114292293	114292293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacgcattggatgaccgaaGcactgctcagtgtcgagtgc	10	8	12	11	3	1	1	1	1	0	0	2	4	1	2	1	1	3	3	1	1	1	1			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr7:114292293G>A	ENST00000393494.2	+	9	1409	c.1130G>A	c.(1129-1131)aGc>aAc	p.S377N	FOXP2_ENST00000393500.3_Missense_Mutation_p.S302N|FOXP2_ENST00000350908.4_Missense_Mutation_p.S377N|MIR3666_ENST00000607845.1_RNA|FOXP2_ENST00000393498.2_Missense_Mutation_p.S356N|FOXP2_ENST00000408937.3_Missense_Mutation_p.S402N|FOXP2_ENST00000360232.4_Missense_Mutation_p.S377N|FOXP2_ENST00000393491.3_Missense_Mutation_p.S285N|FOXP2_ENST00000393489.3_Missense_Mutation_p.S285N|FOXP2_ENST00000390668.3_Missense_Mutation_p.S401N|FOXP2_ENST00000403559.4_Missense_Mutation_p.S394N			O15409	FOXP2_HUMAN	forkhead box P2	377					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						GATGACCGAAGCACTGCTCAG	0.418																																						ENST00000393500.3																			0				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						c.(904-906)aGc>aAc		forkhead box P2							168	146	153					7																	114292293		2203	4300	6503	SO:0001583	missense	93986				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	g.chr7:114292293G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1130G>A	7.37:g.114292293G>A	ENSP00000377132:p.Ser377Asn					FOXP2_ENST00000360232.4_Missense_Mutation_p.S377N|FOXP2_ENST00000393494.2_Missense_Mutation_p.S377N|FOXP2_ENST00000408937.3_Missense_Mutation_p.S402N|FOXP2_ENST00000393489.3_Missense_Mutation_p.S285N|FOXP2_ENST00000403559.4_Missense_Mutation_p.S394N|FOXP2_ENST00000393498.2_Missense_Mutation_p.S356N|FOXP2_ENST00000390668.3_Missense_Mutation_p.S401N|FOXP2_ENST00000393491.3_Missense_Mutation_p.S285N|FOXP2_ENST00000350908.4_Missense_Mutation_p.S377N	p.S302N			O15409	FOXP2_HUMAN			15	1725	+			377	DLTTNNSSSTTSSNT -> EEFPVQGPAAVCAGL (in Ref. 10; AAB91439).				A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.905G>A	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246462	0.95305	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000360232;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.52354	0.1729	M	0.81112	2.525	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.967;0.967;0.967;0.999;0.999;0.967;0.981	P;P;P;D;D;P;D	0.80764	0.827;0.827;0.827;0.994;0.994;0.827;0.943	T	0.54476	-0.8288	10	0.87932	D	0	.	20.062	0.97678	0.0:0.0:1.0:0.0	.	376;394;285;377;401;377;402	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4	.;.;.;.;.;FOXP2_HUMAN;.	N	302;377;402;394;377;354;285;377;401;285	ENSP00000377137:S302N;ENSP00000377132:S377N;ENSP00000386200:S402N;ENSP00000385069:S394N;ENSP00000265436:S377N;ENSP00000377129:S285N;ENSP00000353367:S377N;ENSP00000375084:S401N;ENSP00000377130:S285N	ENSP00000265436:S377N	S	+	2	0	FOXP2	114079529	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.858000	0.86971	2.730000	0.93505	0.563000	0.77884	AGC		0.418	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		5	52	0	0	0	1	0	5	52					A	114292293	G	A	114292293	3	1	454	1	0	0	0	0	1	0	0	0	6027	971	34	3	1294	3	FOXP2	7	114292293	Missense_Mutation	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08		114292293	44846370	12	31032											
BMS1	9790	broad.mit.edu	37	chr10	43279996	43279996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagttcagtctgctgtgCggatggctcgatcctttcac	5	14	11	11	2	3	0	2	0	1	0	5	2	4	1	1	2	3	4	1	2	0	3	rs189363794		TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr10:43279996C>T	ENST00000374518.5	+	2	217	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	52					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			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						GTCTGCTGTGCGGATGGCTCG	0.463																																						ENST00000374518.4																			0				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						c.(154-156)Cgg>Tgg		BMS1 ribosome biogenesis factor		C	TRP/ARG	0,4406		0,0,2203	94	103	100		154	3.4	1	10		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	BMS1	NM_014753.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	52/1283	43279996	1,13005	2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43279996C>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.154C>T	10.37:g.43279996C>T	ENSP00000363642:p.Arg52Trp						p.R52W	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			2	217	+			52					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.154C>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	c	16.70	3.197279	0.58126	0.0	1.16E-4	ENSG00000165733	ENST00000374518	T	0.10382	2.88	4.33	3.41	0.39046	.	0.053084	0.85682	D	0.000000	T	0.13329	0.0323	M	0.73430	2.235	0.58432	D	0.999999	P	0.41393	0.748	B	0.32342	0.144	T	0.06534	-1.0821	10	0.87932	D	0	.	13.441	0.61112	0.1583:0.8417:0.0:0.0	.	52	Q14692	BMS1_HUMAN	W	52	ENSP00000363642:R52W	ENSP00000363642:R52W	R	+	1	2	BMS1	42600002	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.692000	0.68256	0.807000	0.34208	-0.458000	0.05436	CGG		0.463	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		26	32	0	0	0	1	0	26	32					T	43279996	C	T	43279996	3	4	454	1	0	0	0	0	1	0	0	0	1472	759	27	1	156	1	BMS1	10	43279996	Missense_Mutation	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08		43279996	92254751	13	31033											
ANK3	288	broad.mit.edu	37	chr10	62038573	62038574	+	Frame_Shift_Ins	INS	-	-	T																															gctccatttgtaaccaagacINSttttaccacctctgcttgcc																										TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr10:62038573_62038574insT	ENST00000280772.2	-	4	563_564	c.372_373insA	c.(370-375)aaagtcfs	p.V125fs	ANK3_ENST00000373827.2_Frame_Shift_Ins_p.V119fs|ANK3_ENST00000503366.1_Frame_Shift_Ins_p.V108fs	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	125					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			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						GTAACCAAGACTTTTACCACCT	0.396																																						ENST00000280772.1																			0				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						c.(370-375)aatcttfs		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001589	frameshift_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:62038573_62038574insT	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.373dupA	10.37:g.62038577_62038577dupT	ENSP00000280772:p.Val125fs					ANK3_ENST00000503366.1_Frame_Shift_Ins_p.NL107fs|ANK3_ENST00000373827.2_Frame_Shift_Ins_p.NL118fs	p.NL124fs	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			4	563_564	-			124					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Ins	INS	ENST00000280772.2	37	c.372_373insA	CCDS7258.1																																																																																				0.396	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		86	79						86	79	---	---	---	---	T	62038574	-	T	62038573	7	5	454	1	0	1	1	0	0	0	0	0	622	565	20	0	13253	0	ANK3	10	62038573	Frame_Shift_Ins	INS	-	TCGA-YL-A8S9-01A-11D-A377-08	18758577	62038573	73496174	14	31034											
RUFY2	3189	broad.mit.edu	37	chr10	70105526	70105526	+	IGR	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatttagttctggagtctCagggcaagttagatgagcat	11	12	13	5	0	2	2	1	1	2	1	3	4	2	4	0	3	1	4	0	3	3	4			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr10:70105526C>A	ENST00000265866.7	+	0	2339				RUFY2_ENST00000602465.1_Nonstop_Mutation_p.*607L|RUFY2_ENST00000388768.2_Nonstop_Mutation_p.*642L|RUFY2_ENST00000265865.3_Nonstop_Mutation_p.*197L	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)						epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						TCTGGAGTCTCAGGGCAAGTT	0.423																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(1924-1926)tGa>tTa		RUN and FYVE domain containing 2							144	137	139					10																	70105526		1931	4148	6079	SO:0001628	intergenic_variant	55680					nucleus	metal ion binding	g.chr10:70105526C>A		CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"RNA binding motif (RRM) containing"	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349		10.37:g.70105526C>A						RUFY2_ENST00000602465.1_Nonstop_Mutation_p.*607L|RUFY2_ENST00000265865.3_Nonstop_Mutation_p.*197L	p.*642L	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			18	2251	-			0					A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Nonstop_Mutation	SNP	ENST00000265866.7	37	c.1925G>T	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568748	0.45798	.	.	ENSG00000204130	ENST00000388768;ENST00000265865	.	.	.	5.48	-5.6	0.02497	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5987	0.76609	0.0:0.5898:0.0:0.4102	.	.	.	.	L	642;197	.	.	X	-	2	2	RUFY2	69775532	0.983000	0.35010	0.000000	0.03702	0.802000	0.45316	0.162000	0.16501	-0.903000	0.03881	-0.379000	0.06801	TGA		0.423	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1			24	37	1	0	1.22574e-08	1	1.24687e-08	24	37					A	70105526	C	A	70105526	1	1	454	0	1	0	0	0	0	0	0	0	13739	837	29	5		5	RUFY2	10	70105526	IGR	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08	8066953	70105526	65429221	15	31035											
ZRANB1	54764	broad.mit.edu	37	chr10	126662251	126662251	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaacagtccaagaaaaattAtttgatgaggtgcttgatag	15	11	9	6	0	0	4	0	3	0	1	1	4	1	4	2	1	2	1	2	1	6	4			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr10:126662251A>G	ENST00000359653.4	+	4	1565	c.1194A>G	c.(1192-1194)ttA>ttG	p.L398L		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	398	TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			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)		AAGAAAAATTATTTGATGAGG	0.303																																						ENST00000359653.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1192-1194)ttA>ttG		zinc finger, RAN-binding domain containing 1							128	133	131					10																	126662251		2203	4298	6501	SO:0001819	synonymous_variant	54764				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	g.chr10:126662251A>G	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"Zinc fingers, RAN-binding domain containing", "OTU domain containing"	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1194A>G	10.37:g.126662251A>G							p.L398L	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	4	1565	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	398			TRAF-binding.		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Silent	SNP	ENST00000359653.4	37	c.1194A>G	CCDS7642.1																																																																																				0.303	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		4	207	0	0	0	1	0	4	207					G	126662251	A	G	126662251	2	3	454	1	0	0	0	0	0	0	0	1	18219	446	16	4		4	ZRANB1	10	126662251	Silent	SNP	A	TCGA-YL-A8S9-01A-11D-A377-08	56556725	126662251	8872496	16	31036											
ACCSL	390110	broad.mit.edu	37	chr11	44069708	44069708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacttgcagcaggccatgaCggagcacttcgtgcagctga	9	7	13	12	2	0	2	0	2	0	0	1	3	0	3	1	2	5	6	1	2	0	2	rs374220502		TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr11:44069708C>T	ENST00000378832.1	+	1	178	c.122C>T	c.(121-123)aCg>aTg	p.T41M		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	41					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CAGGCCATGACGGAGCACTTC	0.592													C|||	1	0.000199681	8e-04	0	5008	,	,		20460	0		0	False		,,,				2504	0					ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(121-123)aCg>aTg		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like		C	MET/THR	1,4197		0,1,2098	48	54	52		122	-1.2	0	11		52	1,8441		0,1,4220	no	missense	ACCSL	NM_001031854.2	81	0,2,6318	TT,TC,CC		0.0118,0.0238,0.0158	benign	41/569	44069708	2,12638	2099	4221	6320	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44069708C>T		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.122C>T	11.37:g.44069708C>T	ENSP00000368109:p.Thr41Met						p.T41M	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			1	178	+			41						Missense_Mutation	SNP	ENST00000378832.1	37	c.122C>T	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	C	7.405	0.633456	0.14322	2.38E-4	1.18E-4	ENSG00000205126	ENST00000378832	T	0.68331	-0.32	4.08	-1.16	0.09678	.	2.565330	0.01198	N	0.007510	T	0.39809	0.1092	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20174	-1.0283	10	0.41790	T	0.15	3.8656	0.992	0.01459	0.4968:0.1605:0.1907:0.152	.	41	Q4AC99	1A1L2_HUMAN	M	41	ENSP00000368109:T41M	ENSP00000368109:T41M	T	+	2	0	ACCSL	44026284	0.043000	0.20138	0.000000	0.03702	0.000000	0.00434	0.209000	0.17435	-0.323000	0.08602	-1.127000	0.01993	ACG		0.592	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		15	21	0	0	0	1	0	15	21					T	44069708	C	T	44069708	3	4	454	1	0	0	0	0	1	0	0	0	134	536	19	1	124	1	ACCSL	11	44069708	Missense_Mutation	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08		44069708	90936808	17	31037											
ATM	472	broad.mit.edu	37	chr11	108218045	108218045	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtgatagacatgtacagaAtatcttgataaatgagcagt	15	12	10	4	0	1	5	0	3	1	2	1	5	1	5	0	1	2	2	0	1	6	5	rs587782451		TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr11:108218045A>G	ENST00000452508.2	+	60	8813	c.8624A>G	c.(8623-8625)aAt>aGt	p.N2875S	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.N2875S|ATM_ENST00000525178.1_3'UTR			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2875	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.N2875T(1)		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)	Caffeine(DB00201)	CATGTACAGAATATCTTGATA	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)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		1	Substitution - Missense(1)	p.N2875T(1)	liver(1)	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						c.(8623-8625)aAt>aGt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							99	105	103					11																	108218045		2201	4295	6496	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	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	g.chr11:108218045A>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8624A>G	11.37:g.108218045A>G	ENSP00000388058:p.Asn2875Ser	TSP Lung(14;0.12)				C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.N2875S|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR	p.N2875S	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		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)	59	9009	+		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)	2875			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8624A>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.663690	0.88251	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.93604	-3.25;-3.25	5.52	5.52	0.82312	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99777	1.1026	10	0.87932	D	0	.	15.6511	0.77095	1.0:0.0:0.0:0.0	.	2875	Q13315	ATM_HUMAN	S	2875	ENSP00000278616:N2875S;ENSP00000388058:N2875S	ENSP00000278616:N2875S	N	+	2	0	ATM	107723255	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.850000	0.92190	2.090000	0.63153	0.454000	0.30748	AAT		0.303	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		61	5	0	0	0	1	0	61	5					G	108218045	A	G	108218045	3	3	454	1	0	0	0	0	1	0	0	0	1109	101	4	4	8854	4	ATM	11	108218045	Missense_Mutation	SNP	A	TCGA-YL-A8S9-01A-11D-A377-08	64148337	108218045	26788471	18	31038											
VPS11	55823	broad.mit.edu	37	chr11	118949846	118949846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccaatctcagtggtgcaGaccctggcccacaactccac	10	6	7	18	0	1	1	1	0	1	1	3	1	2	1	5	2	2	1	5	2	2	0			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr11:118949846G>T	ENST00000300793.6	+	15	2313	c.2271G>T	c.(2269-2271)caG>caT	p.Q757H	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	758					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CAGTGGTGCAGACCCTGGCCC	0.552																																						ENST00000300793.6																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29						c.(2269-2271)caG>caT		vacuolar protein sorting 11 homolog (S. cerevisiae)							44	48	46					11																	118949846		2116	4235	6351	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118949846G>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"RING-type (C3HC4) zinc fingers"	14583	protein-coding gene	gene with protein product		608549	"vacuolar protein sorting 11 (yeast homolog)"				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.2271G>T	11.37:g.118949846G>T	ENSP00000475301:p.Gln757His					VPS11_ENST00000527798.1_3'UTR	p.Q757H	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	15	2313	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	758					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.2271G>T																																																																																					0.552	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		21	4	1	0	9.95505e-16	1	1.08768e-15	21	4					T	118949846	G	T	118949846	3	4	454	1	0	0	0	0	1	0	0	0	17185	933	33	5	2327	5	VPS11	11	118949846	Missense_Mutation	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08	10731801	118949846	16056670	19	31039											
DDX23	9416	broad.mit.edu	37	chr12	49231321	49231321	+	Frame_Shift_Del	DEL	G	G	-																															ctgcaccttaatggcatgcaGttccttgctcttatccttct																										TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr12:49231321delG	ENST00000308025.3	-	7	818	c.739delC	c.(739-741)ctgfs	p.L247fs	DDX23_ENST00000553182.1_Intron	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	247					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ATGGCATGCAGTTCCTTGCTC	0.502																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(739-741)tgfs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							287	225	246					12																	49231321		2203	4300	6503	SO:0001589	frameshift_variant	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49231321delG	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.739delC	12.37:g.49231321delG	ENSP00000310723:p.Leu247fs					DDX23_ENST00000553182.1_Intron	p.L247fs	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			7	818	-			247					B2R600|B4DH15|O43188	Frame_Shift_Del	DEL	ENST00000308025.3	37	c.739delC	CCDS8770.1																																																																																				0.502	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		70	64						70	64	---	---	---	---	-	49231321	G	-	49231321	7	5	454	1	0	1	0	1	0	0	0	0	4350	1020	36	0	1767	0	DDX23	12	49231321	Frame_Shift_Del	DEL	G	TCGA-YL-A8S9-01A-11D-A377-08		49231321	84620574	20	31040											
DDX54	79039	broad.mit.edu	37	chr12	113612881	113612881	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagtttgggcagcgtggcGgagaacagcaccgtctggtg	8	7	17	9	3	1	1	0	0	1	1	1	2	1	1	1	4	4	4	1	4	1	1			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr12:113612881G>A	ENST00000306014.5	-	8	861	c.834C>T	c.(832-834)tcC>tcT	p.S278S	DDX54_ENST00000314045.7_Silent_p.S278S	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	278	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCAGCGTGGCGGAGAACAGCA	0.667											OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000314045.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(832-834)tcC>tcT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							32	39	36					12																	113612881		2202	4300	6502	SO:0001819	synonymous_variant	79039				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	g.chr12:113612881G>A	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.834C>T	12.37:g.113612881G>A			OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1451	DDX54_ENST00000306014.5_Silent_p.S278S	p.S278S	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN			8	861	-			278			Helicase ATP-binding.		Q86YT8|Q9BRZ1	Silent	SNP	ENST00000306014.5	37	c.834C>T	CCDS31907.1																																																																																				0.667	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		20	26	0	0	0	1	0	20	26					A	113612881	G	A	113612881	2	1	454	1	0	0	0	0	0	0	0	1	4372	1103	39	2		2	DDX54	12	113612881	Silent	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08	64381560	113612881	20239014	21	31041											
RFC5	5985	broad.mit.edu	37	chr12	118463581	118463581	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgaagatggaatgaaagCactagtcactctttccagtg	14	10	10	7	0	2	3	1	2	1	1	3	4	3	4	1	1	1	1	1	1	5	2			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr12:118463581C>G	ENST00000454402.2	+	7	729	c.611C>G	c.(610-612)gCa>gGa	p.A204G	RFC5_ENST00000229043.3_Missense_Mutation_p.A119G|RFC5_ENST00000392542.2_Missense_Mutation_p.A183G	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	204					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAATGAAAGCACTAGTCACT	0.403																																						ENST00000392542.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9						c.(547-549)gCa>gGa		replication factor C (activator 1) 5, 36.5kDa							125	122	123					12																	118463581		2203	4300	6503	SO:0001583	missense	5985				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|enzyme binding	g.chr12:118463581C>G		CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"ATPases / AAA-type"	9973	protein-coding gene	gene with protein product		600407	"replication factor C (activator 1) 5 (36.5kD)"			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.611C>G	12.37:g.118463581C>G	ENSP00000408295:p.Ala204Gly					RFC5_ENST00000454402.2_Missense_Mutation_p.A204G|RFC5_ENST00000229043.3_Missense_Mutation_p.A119G	p.A183G	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN			8	1081	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		204					A8MZ62|B3KSX8	Missense_Mutation	SNP	ENST00000454402.2	37	c.548C>G	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618954	0.66787	.	.	ENSG00000111445	ENST00000229043;ENST00000454402;ENST00000392542	T;T;T	0.47177	1.28;0.85;1.75	5.46	4.55	0.56014	.	0.051806	0.85682	D	0.000000	T	0.66406	0.2786	H	0.97732	4.065	0.80722	D	1	B;B;B	0.23540	0.049;0.087;0.087	B;B;B	0.28465	0.063;0.09;0.063	T	0.72204	-0.4361	10	0.87932	D	0	-24.7628	14.3726	0.66852	0.1494:0.8506:0.0:0.0	.	183;218;204	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	G	119;204;183	ENSP00000229043:A119G;ENSP00000408295:A204G;ENSP00000376325:A183G	ENSP00000229043:A119G	A	+	2	0	RFC5	116947964	1.000000	0.71417	0.939000	0.37840	0.940000	0.58332	4.834000	0.62774	1.272000	0.44329	0.650000	0.86243	GCA		0.403	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		32	35	0	0	0	1	0	32	35					G	118463581	C	G	118463581	3	3	454	1	0	0	0	0	1	0	0	0	13248	710	25	5	643	5	RFC5	12	118463581	Missense_Mutation	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08	4850700	118463581	15388314	22	31042											
FOXA1	3169	broad.mit.edu	37	chr14	38061208	38061208	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgaagcgcttctggcggcGcaagtagcagccgttctcga	7	9	13	12	5	2	1	0	1	2	0	3	2	2	1	1	2	3	5	1	2	3	4			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr14:38061208G>C	ENST00000250448.2	-	2	842	c.781C>G	c.(781-783)Cgc>Ggc	p.R261G	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.R228G	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	261					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TTCTGGCGGCGCAAGTAGCAG	0.716																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(781-783)Cgc>Ggc		forkhead box A1							15	16	15					14																	38061208		2202	4298	6500	SO:0001583	missense	3169				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	g.chr14:38061208G>C	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.781C>G	14.37:g.38061208G>C	ENSP00000250448:p.Arg261Gly					FOXA1_ENST00000540786.1_Missense_Mutation_p.R228G|FOXA1_ENST00000545425.2_5'UTR	p.R261G	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	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)	2	842	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		261					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.781C>G	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979223	0.74360	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.96041	-3.89;-3.89	3.92	3.02	0.34903	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.064498	0.64402	D	0.000006	D	0.97986	0.9337	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97724	1.0198	10	0.66056	D	0.02	.	10.2805	0.43537	0.1014:0.0:0.8986:0.0	.	261	P55317	FOXA1_HUMAN	G	261;228	ENSP00000250448:R261G;ENSP00000440178:R228G	ENSP00000250448:R261G	R	-	1	0	FOXA1	37130959	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.341000	0.72977	0.867000	0.35654	0.400000	0.26472	CGC		0.716	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			13	9	0	0	0	1	0	13	9					C	38061208	G	C	38061208	3	2	454	1	0	0	0	0	1	0	0	0	5989	1087	38	5	641	5	FOXA1	14	38061208	Missense_Mutation	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08		38061208	69288332	23	31043											
SLC35F4	341880	broad.mit.edu	37	chr14	58030926	58030926	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgctgggatcagtcacaTcatccacatgctcctcactc	9	11	7	14	0	4	0	4	0	0	0	7	1	6	1	2	1	2	3	2	1	1	1			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr14:58030926T>A	ENST00000339762.6	-	8	1492	c.1493A>T	c.(1492-1494)gAt>gTt	p.D498V	SLC35F4_ENST00000554729.1_Missense_Mutation_p.D339V|SLC35F4_ENST00000556826.1_Missense_Mutation_p.D462V			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	498					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCAGTCACATCATCCACATG	0.498																																						ENST00000556826.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1384-1386)gAt>gTt		solute carrier family 35, member F4							91	92	92					14																	58030926		2053	4209	6262	SO:0001583	missense	341880							g.chr14:58030926T>A			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"Solute carriers"	19845	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 36"	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.1493A>T	14.37:g.58030926T>A	ENSP00000342518:p.Asp498Val					SLC35F4_ENST00000339762.6_Missense_Mutation_p.D498V|SLC35F4_ENST00000554729.1_Missense_Mutation_p.D339V	p.D462V	NM_001206920.1	NP_001193849.1					8	1621	-								A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37	c.1385A>T		.	.	.	.	.	.	.	.	.	.	T	11.85	1.760199	0.31137	.	.	ENSG00000151812	ENST00000556826;ENST00000339762;ENST00000554729	T;T;T	0.52754	0.75;0.65;0.8	5.14	5.14	0.70334	.	0.102646	0.64402	D	0.000003	T	0.42359	0.1199	L	0.36672	1.1	0.80722	D	1	B	0.33413	0.411	B	0.35550	0.205	T	0.45789	-0.9237	10	0.72032	D	0.01	-8.2332	15.2417	0.73476	0.0:0.0:0.0:1.0	.	498	A4IF30	S35F4_HUMAN	V	462;498;339	ENSP00000452086:D462V;ENSP00000342518:D498V;ENSP00000451990:D339V	ENSP00000342518:D498V	D	-	2	0	SLC35F4	57100679	1.000000	0.71417	0.064000	0.19789	0.235000	0.25334	7.655000	0.83696	2.047000	0.60756	0.460000	0.39030	GAT		0.498	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		6	8	0	0	0	1	0	6	8					A	58030926	T	A	58030926	3	1	454	1	0	0	0	0	1	0	0	0	14591	1435	50	5	76	5	SLC35F4	14	58030926	Missense_Mutation	SNP	T	TCGA-YL-A8S9-01A-11D-A377-08	19969718	58030926	49318614	24	31044											
ATP10A	57194	broad.mit.edu	37	chr15	25959331	25959331	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcagctgggtgtgaaccTccgcaggaagtcttctatcg	8	9	13	11	2	2	1	0	1	2	0	4	2	3	2	2	3	2	3	2	3	3	2			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr15:25959331T>G	ENST00000356865.6	-	10	1945	c.1834A>C	c.(1834-1836)Agg>Cgg	p.R612R		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	612					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGTGTGAACCTCCGCAGGAAG	0.597																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(1834-1836)Agg>Cgg		ATPase, class V, type 10A							46	51	49					15																	25959331		2203	4300	6503	SO:0001819	synonymous_variant	57194				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	g.chr15:25959331T>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1834A>C	15.37:g.25959331T>G							p.R612R	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	1945	-		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)	612					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.1834A>C	CCDS32178.1																																																																																				0.597	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		20	24	0	0	0	1	0	20	24					G	25959331	T	G	25959331	2	3	454	1	0	0	0	0	0	0	0	1	1116	1550	54	5		5	ATP10A	15	25959331	Silent	SNP	T	TCGA-YL-A8S9-01A-11D-A377-08		25959331	76572061	25	31045											
SQRDL	58472	broad.mit.edu	37	chr15	45968418	45968418	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcggaacctcactgttaaCtacaagaaaaacctcattga	16	8	7	10	1	2	2	2	1	0	1	2	4	2	3	2	1	5	1	2	1	6	3			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr15:45968418C>T	ENST00000260324.7	+	6	1160	c.774C>T	c.(772-774)aaC>aaT	p.N258N	SQRDL_ENST00000568606.1_Silent_p.N258N|RP11-96O20.4_ENST00000564080.1_Silent_p.N258N	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	258					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TCACTGTTAACTACAAGAAAA	0.458																																						ENST00000260324.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.(772-774)aaC>aaT		sulfide quinone reductase-like (yeast)							126	131	129					15																	45968418		2198	4297	6495	SO:0001819	synonymous_variant	58472						oxidoreductase activity	g.chr15:45968418C>T	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.774C>T	15.37:g.45968418C>T						SQRDL_ENST00000568606.1_Silent_p.N258N|RP11-96O20.4_ENST00000564080.1_Silent_p.N258N	p.N258N	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	6	1160	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	258					Q9UQM8	Silent	SNP	ENST00000260324.7	37	c.774C>T	CCDS10127.1																																																																																				0.458	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			49	65	0	0	0	1	0	49	65					T	45968418	C	T	45968418	2	4	454	1	0	0	0	0	0	0	0	1	15128	564	20	3		3	SQRDL	15	45968418	Silent	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08	20009087	45968418	56562974	26	31046											
ONECUT1	3175	broad.mit.edu	37	chr15	53080999	53080999	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaagcggagcgcggacatGcgctggaactccggctcctg	7	6	15	13	5	0	0	0	0	0	0	2	3	2	3	2	4	4	3	2	4	2	1			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr15:53080999G>A	ENST00000305901.5	-	1	1210	c.1083C>T	c.(1081-1083)cgC>cgT	p.R361R	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	361					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GCGCGGACATGCGCTGGAACT	0.637																																						ENST00000305901.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(1081-1083)cgC>cgT		one cut homeobox 1							34	37	36					15																	53080999		2194	4293	6487	SO:0001819	synonymous_variant	3175				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	g.chr15:53080999G>A	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"Homeoboxes / CUT class"	8138	protein-coding gene	gene with protein product		604164	"one cut domain, family member 1"	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.1083C>T	15.37:g.53080999G>A						ONECUT1_ENST00000561401.2_Intron	p.R361R	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	1210	-			361					B2RTV4|Q99744|Q9UMR6	Silent	SNP	ENST00000305901.5	37	c.1083C>T	CCDS10150.1																																																																																				0.637	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			27	18	0	0	0	1	0	27	18					A	53080999	G	A	53080999	2	1	454	1	0	0	0	0	0	0	0	1	10868	1306	46	3		3	ONECUT1	15	53080999	Silent	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08	7112581	53080999	49450393	27	31047											
CLEC16A	23274	broad.mit.edu	37	chr16	11051757	11051757	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagatcaaaatgacagcTctgtatttgagtaagggttt	12	12	13	4	0	2	3	1	2	1	1	2	4	2	3	0	3	1	4	0	3	4	4			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr16:11051757T>G	ENST00000409790.1	+	2	429	c.199T>G	c.(199-201)Tct>Gct	p.S67A	CLEC16A_ENST00000409552.3_Missense_Mutation_p.S67A	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAATGACAGCTCTGTATTTGA	0.403																																						ENST00000409790.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(199-201)Tct>Gct		C-type lectin domain family 16, member A							130	127	128					16																	11051757		1874	4116	5990	SO:0001583	missense	23274							g.chr16:11051757T>G	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.199T>G	16.37:g.11051757T>G	ENSP00000387122:p.Ser67Ala					CLEC16A_ENST00000409552.3_Missense_Mutation_p.S67A	p.S67A	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			2	429	+			67						Missense_Mutation	SNP	ENST00000409790.1	37	c.199T>G	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.028800	0.54790	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.50001	0.76	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.59459	0.2195	L	0.42744	1.35	0.80722	D	1	D;D	0.64830	0.994;0.99	D;D	0.79108	0.992;0.979	T	0.59794	-0.7387	10	0.46703	T	0.11	-11.5145	13.4335	0.61071	0.0:0.0:0.0:1.0	.	67;67	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	A	67	ENSP00000387122:S67A	ENSP00000386495:S67A	S	+	1	0	CLEC16A	10959258	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.009000	0.70745	1.822000	0.53115	0.528000	0.53228	TCT		0.403	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		4	83	0	0	0	1	0	4	83					G	11051757	T	G	11051757	3	3	454	1	0	0	0	0	1	0	0	0	3500	1551	54	5	205	5	CLEC16A	16	11051757	Missense_Mutation	SNP	T	TCGA-YL-A8S9-01A-11D-A377-08		11051757	79302996	28	31048											
CDH11	1009	broad.mit.edu	37	chr16	65038589	65038589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggtgtactcctctatcaCgaagaactggttccagaccc	9	9	8	15	2	2	2	1	0	1	2	4	3	4	2	4	2	2	2	4	2	4	3	rs556647809		TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr16:65038589C>T	ENST00000268603.4	-	3	799	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	CDH11_ENST00000566827.1_Intron|CDH11_ENST00000394156.3_Missense_Mutation_p.V62M|CDH11_ENST00000569624.1_5'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCCTCTATCACGAAGAACTGG	0.612			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"cadherin 11, type 2, OB-cadherin (osteoblast)"			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(184-186)Gtg>Atg		cadherin 11, type 2, OB-cadherin (osteoblast)							62	48	53					16																	65038589		2202	4300	6502	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65038589C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.184G>A	16.37:g.65038589C>T	ENSP00000268603:p.Val62Met	TSP Lung(24;0.17)				CDH11_ENST00000566827.1_Intron|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000268603.4_Missense_Mutation_p.V62M	p.V62M			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	3	637	-		Ovarian(137;0.0973)	62			Cadherin 1.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.184G>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623522	0.87460	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	T;T	0.00527	6.79;6.79	5.62	5.62	0.85841	Cadherin-like (1);	0.058930	0.64402	D	0.000002	T	0.02970	0.0088	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.918;1.0	T	0.23440	-1.0188	10	0.87932	D	0	.	18.6407	0.91394	0.0:1.0:0.0:0.0	.	62;62	P55287-2;P55287	.;CAD11_HUMAN	M	62	ENSP00000268603:V62M;ENSP00000377711:V62M	ENSP00000268603:V62M	V	-	1	0	CDH11	63596090	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	4.620000	0.61226	2.662000	0.90505	0.591000	0.81541	GTG		0.612	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		10	1	0	0	0	1	0	10	1					T	65038589	C	T	65038589	3	4	454	1	0	0	0	0	1	0	0	0	3097	536	19	1	2250	1	CDH11	16	65038589	Missense_Mutation	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08	53986832	65038589	25316164	29	31049											
MYH4	4622	broad.mit.edu	37	chr17	10356590	10356590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagagccttcttctccttgGtcagcttagcaatggtttca	7	14	10	10	0	4	1	2	0	2	1	5	2	4	1	2	3	3	3	2	3	2	5			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr17:10356590G>A	ENST00000255381.2	-	24	3100	c.2990C>T	c.(2989-2991)aCc>aTc	p.T997I	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	997					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTCTCCTTGGTCAGCTTAGC	0.478																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2989-2991)aCc>aTc		myosin, heavy chain 4, skeletal muscle							220	201	207					17																	10356590		2203	4297	6500	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10356590G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2990C>T	17.37:g.10356590G>A	ENSP00000255381:p.Thr997Ile					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.T997I	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			24	3100	-			997						Missense_Mutation	SNP	ENST00000255381.2	37	c.2990C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056989	0.76074	.	.	ENSG00000141048	ENST00000255381	D	0.87729	-2.29	5.19	5.19	0.71726	.	0.000000	0.38492	U	0.001679	D	0.90741	0.7094	M	0.80847	2.515	0.80722	D	1	P	0.36354	0.549	B	0.43386	0.418	D	0.91686	0.5362	10	0.87932	D	0	.	19.0682	0.93122	0.0:0.0:1.0:0.0	.	997	Q9Y623	MYH4_HUMAN	I	997	ENSP00000255381:T997I	ENSP00000255381:T997I	T	-	2	0	MYH4	10297315	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.681000	0.98653	2.571000	0.86741	0.591000	0.81541	ACC		0.478	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		8	181	0	0	0	1	0	8	181					A	10356590	G	A	10356590	3	1	454	1	0	0	0	0	1	0	0	0	10037	1261	44	3	2897	3	MYH4	17	10356590	Missense_Mutation	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08		10356590	70838620	30	31050											
NLK	51701	broad.mit.edu	37	chr17	26488195	26488195	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacttcaagatatgttgtCacagaattgatgcagagtga	16	11	9	5	0	2	5	2	2	0	3	2	5	2	5	0	0	2	2	0	0	5	4			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr17:26488195C>T	ENST00000407008.3	+	4	1372	c.654C>T	c.(652-654)gtC>gtT	p.V218V		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	218	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for interaction with TAB2. {ECO:0000250}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			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)		GATATGTTGTCACAGAATTGA	0.393																																						ENST00000407008.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14						c.(652-654)gtC>gtT		nemo-like kinase							94	87	90					17																	26488195		2203	4300	6503	SO:0001819	synonymous_variant	51701				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	g.chr17:26488195C>T	AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"nemo like kinase"			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.654C>T	17.37:g.26488195C>T							p.V218V	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	4	1372	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		218			Protein kinase.		B2RCX1|Q2PNI9|Q6P2A3	Silent	SNP	ENST00000407008.3	37	c.654C>T	CCDS11224.2																																																																																				0.393	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		10	34	0	0	0	1	0	10	34					T	26488195	C	T	26488195	2	4	454	1	0	0	0	0	0	0	0	1	10466	813	29	3		3	NLK	17	26488195	Silent	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08	16131605	26488195	54707015	31	31051											
RHOT1	55288	broad.mit.edu	37	chr17	30529851	30529851	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagaaatgtgttcagatgtAatgtaattggagtgaaaaac	18	11	10	2	0	1	3	1	1	0	2	1	4	1	4	0	1	1	3	0	1	6	4			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr17:30529851A>G	ENST00000333942.6	+	15	1503	c.1264A>G	c.(1264-1266)Aat>Gat	p.N422D	RHOT1_ENST00000394692.2_Missense_Mutation_p.N422D|RHOT1_ENST00000581094.1_Missense_Mutation_p.N422D|RHOT1_ENST00000358365.3_Missense_Mutation_p.N422D|RHOT1_ENST00000354266.3_Missense_Mutation_p.N401D|RHOT1_ENST00000545287.2_Missense_Mutation_p.N422D|RHOT1_ENST00000583994.1_Missense_Mutation_p.N295D	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	422	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			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)				GTTCAGATGTAATGTAATTGG	0.313																																						ENST00000358365.3																			0				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						c.(1264-1266)Aat>Gat		ras homolog family member T1							104	113	110					17																	30529851		2203	4298	6501	SO:0001583	missense	55288				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	g.chr17:30529851A>G	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"EF-hand domain containing"	21168	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 1"	613888	"ras homolog gene family, member T1"	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.1264A>G	17.37:g.30529851A>G	ENSP00000334724:p.Asn422Asp					RHOT1_ENST00000583994.1_Missense_Mutation_p.N295D|RHOT1_ENST00000545287.2_Missense_Mutation_p.N422D|RHOT1_ENST00000394692.2_Missense_Mutation_p.N422D|RHOT1_ENST00000354266.3_Missense_Mutation_p.N401D|RHOT1_ENST00000333942.6_Missense_Mutation_p.N422D|RHOT1_ENST00000581094.1_Missense_Mutation_p.N422D	p.N422D	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN			15	1491	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	422			Miro 2.		A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.1264A>G	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.368809	0.42003	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.21932	1.98;1.98;1.98	5.47	5.47	0.80525	Mitochondrial Rho-like (1);MIRO (1);	0.085246	0.85682	D	0.000000	T	0.24198	0.0586	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.31383	0.321;0.003;0.004;0.018	B;B;B;B	0.35550	0.205;0.008;0.005;0.012	T	0.02519	-1.1147	10	0.44086	T	0.13	-17.8578	15.5516	0.76158	1.0:0.0:0.0:0.0	.	422;422;422;422	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	D	422	ENSP00000351132:N422D;ENSP00000378184:N422D;ENSP00000334724:N422D	ENSP00000334724:N422D	N	+	1	0	RHOT1	27553964	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.180000	0.77674	2.078000	0.62432	0.477000	0.44152	AAT		0.313	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		20	24	0	0	0	1	0	20	24					G	30529851	A	G	30529851	3	3	454	1	0	0	0	0	1	0	0	0	13343	362	13	4	1322	4	RHOT1	17	30529851	Missense_Mutation	SNP	A	TCGA-YL-A8S9-01A-11D-A377-08	4041656	30529851	50665359	32	31052											
UNC13D	201294	broad.mit.edu	37	chr17	73831510	73831510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatccatctgcacagcgcGctgcacccgcgccagggcct	6	6	10	19	4	2	0	1	0	1	0	3	0	3	0	4	1	3	3	4	1	0	0			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr17:73831510G>A	ENST00000207549.4	-	20	2207	c.1828C>T	c.(1828-1830)Cgc>Tgc	p.R610C	UNC13D_ENST00000412096.2_Missense_Mutation_p.R610C	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	610	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCACAGCGCGCTGCACCCGC	0.677									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1828-1830)Cgc>Tgc		unc-13 homolog D (C. elegans)							25	27	26					17																	73831510		2202	4298	6500	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73831510G>A	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1828C>T	17.37:g.73831510G>A	ENSP00000207549:p.Arg610Cys					UNC13D_ENST00000412096.2_Missense_Mutation_p.R610C	p.R610C	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	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)		20	2207	-			610			MHD1.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.1828C>T	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601690	0.66445	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.71934	-0.6;-0.61	4.74	4.74	0.60224	Munc13 homology 1 (1);	0.000000	0.85682	D	0.000000	T	0.80088	0.4559	M	0.78049	2.395	0.80722	D	1	D;D	0.69078	0.994;0.997	P;P	0.56960	0.79;0.81	T	0.82520	-0.0416	10	0.59425	D	0.04	-11.2404	13.0819	0.59119	0.0:0.0:0.7977:0.2023	.	610;610	Q70J99-3;Q70J99	.;UN13D_HUMAN	C	610	ENSP00000207549:R610C;ENSP00000388093:R610C	ENSP00000207549:R610C	R	-	1	0	UNC13D	71343105	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	2.253000	0.43205	2.321000	0.78463	0.561000	0.74099	CGC		0.677	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		3	13	0	0	0	1	0	3	13					A	73831510	G	A	73831510	3	1	454	1	0	0	0	0	1	0	0	0	16984	1087	38	1	1496	1	UNC13D	17	73831510	Missense_Mutation	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08	43301659	73831510	7363700	33	31053											
ARRDC5	645432	broad.mit.edu	37	chr19	4902803	4902803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggtagattctatcctcgGgcagcactaattcgatcgac	10	10	9	12	3	1	1	0	0	1	1	5	3	2	1	2	2	1	3	2	2	3	5			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr19:4902803G>A	ENST00000381781.2	-	1	76	c.77C>T	c.(76-78)cCc>cTc	p.P26L	UHRF1_ENST00000592666.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	26										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)		TCTATCCTCGGGCAGCACTAA	0.552																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(76-78)cCc>cTc		arrestin domain containing 5							87	82	84					19																	4902803		1907	4126	6033	SO:0001583	missense	645432				signal transduction			g.chr19:4902803G>A		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.77C>T	19.37:g.4902803G>A	ENSP00000371200:p.Pro26Leu						p.P26L	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	1	76	-			26						Missense_Mutation	SNP	ENST00000381781.2	37	c.77C>T	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164889	0.38217	.	.	ENSG00000205784	ENST00000381781	T	0.18657	2.2	5.23	4.19	0.49359	Immunoglobulin E-set (1);	0.358324	0.20944	N	0.082873	T	0.29028	0.0721	L	0.51422	1.61	0.48452	D	0.999659	P	0.41366	0.747	P	0.49853	0.624	T	0.02588	-1.1137	10	0.59425	D	0.04	-39.1451	9.7129	0.40256	0.0938:0.0:0.9062:0.0	.	26	A6NEK1	ARRD5_HUMAN	L	26	ENSP00000371200:P26L	ENSP00000371200:P26L	P	-	2	0	ARRDC5	4853803	1.000000	0.71417	0.813000	0.32504	0.011000	0.07611	4.859000	0.62954	1.430000	0.47334	0.650000	0.86243	CCC		0.552	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		38	54	0	0	0	1	0	38	54					A	4902803	G	A	4902803	3	1	454	1	0	0	0	0	1	0	0	0	986	1232	43	3	963	3	ARRDC5	19	4902803	Missense_Mutation	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08		4902803	54226180	34	31054											
MUC16	94025	broad.mit.edu	37	chr19	9064067	9064067	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtacacattggagatgaGtcagctaggacagaggactg	12	8	15	6	0	1	3	1	1	0	2	1	6	1	5	0	4	2	2	0	4	2	3			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr19:9064067G>C	ENST00000397910.4	-	3	23582	c.23379C>G	c.(23377-23379)gaC>gaG	p.D7793E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7795	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				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						TTGGAGATGAGTCAGCTAGGA	0.502																																						ENST00000397910.4																			0				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						c.(23377-23379)gaC>gaG		mucin 16, cell surface associated							288	282	284					19																	9064067		2125	4231	6356	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064067G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23379C>G	19.37:g.9064067G>C	ENSP00000381008:p.Asp7793Glu						p.D7793E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	23582	-			7795			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23379C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.961	0.178579	0.09443	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	1.33	1.33	0.21861	.	.	.	.	.	T	0.12902	0.0313	L	0.29908	0.895	.	.	.	P	0.44344	0.833	B	0.28916	0.096	T	0.18587	-1.0332	8	0.87932	D	0	.	6.0525	0.19792	0.0:0.0:1.0:0.0	.	7793	B5ME49	.	E	7793	ENSP00000381008:D7793E	ENSP00000381008:D7793E	D	-	3	2	MUC16	8925067	0.001000	0.12720	0.001000	0.08648	0.101000	0.19017	-0.377000	0.07456	1.025000	0.39708	0.195000	0.17529	GAC		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	196	0	0	0	1	0	4	196					C	9064067	G	C	9064067	3	2	454	1	0	0	0	0	1	0	0	0	9973	1020	36	5	20472	5	MUC16	19	9064067	Missense_Mutation	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08	4161264	9064067	50064916	35	31055											
EMR2	30817	broad.mit.edu	37	chr19	14875289	14875289	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaacagcccattggaaaggTtcttgctcaggcctctgagg	9	10	11	11	0	4	1	2	1	2	0	4	2	4	2	2	4	3	2	2	4	2	3			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr19:14875289T>A	ENST00000315576.3	-	11	1491	c.1040A>T	c.(1039-1041)aAc>aTc	p.N347I	EMR2_ENST00000601345.1_Missense_Mutation_p.N347I|EMR2_ENST00000594294.1_Missense_Mutation_p.N298I|EMR2_ENST00000392967.2_Missense_Mutation_p.N347I|EMR2_ENST00000346057.1_Missense_Mutation_p.N298I|EMR2_ENST00000353005.1_Missense_Mutation_p.N205I|EMR2_ENST00000392965.3_Missense_Mutation_p.N347I|EMR2_ENST00000392964.3_Missense_Mutation_p.N86I|EMR2_ENST00000594076.1_Missense_Mutation_p.N254I|EMR2_ENST00000353876.1_Missense_Mutation_p.N254I|EMR2_ENST00000595839.1_Missense_Mutation_p.N205I|EMR2_ENST00000596991.2_Missense_Mutation_p.N347I	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	347					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						ATTGGAAAGGTTCTTGCTCAG	0.587																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1039-1041)aAc>aTc		egf-like module containing, mucin-like, hormone receptor-like 2							68	62	64					19																	14875289		2203	4299	6502	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14875289T>A	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1040A>T	19.37:g.14875289T>A	ENSP00000319883:p.Asn347Ile					EMR2_ENST00000594294.1_Missense_Mutation_p.N298I|EMR2_ENST00000594076.1_Missense_Mutation_p.N254I|EMR2_ENST00000392964.3_Missense_Mutation_p.N86I|EMR2_ENST00000392965.3_Missense_Mutation_p.N347I|EMR2_ENST00000353005.1_Missense_Mutation_p.N205I|EMR2_ENST00000601345.1_Missense_Mutation_p.N347I|EMR2_ENST00000392967.2_Missense_Mutation_p.N347I|EMR2_ENST00000346057.1_Missense_Mutation_p.N298I|EMR2_ENST00000595839.1_Missense_Mutation_p.N205I|EMR2_ENST00000353876.1_Missense_Mutation_p.N254I|EMR2_ENST00000596991.2_Missense_Mutation_p.N347I	p.N347I	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			11	1491	-			347					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.1040A>T	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.755060	0.31046	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965;ENST00000392964;ENST00000392962	T;T;T;T;T;T;T;T	0.78246	-0.9;-1.01;-0.43;0.37;1.09;-1.16;1.47;-1.08	3.54	-7.02	0.01589	.	.	.	.	.	T	0.60274	0.2256	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B;B	0.28605	0.146;0.213;0.031;0.052;0.029;0.07;0.172;0.217	B;B;B;B;B;B;B;B	0.31946	0.024;0.108;0.021;0.069;0.015;0.065;0.096;0.138	T	0.55398	-0.8147	9	0.59425	D	0.04	.	7.4918	0.27466	0.0902:0.0:0.4041:0.5057	.	347;254;347;205;298;347;347;347	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	I	347;347;298;254;205;347;86;298	ENSP00000319883:N347I;ENSP00000376694:N347I;ENSP00000263380:N298I;ENSP00000319454:N254I;ENSP00000319838:N205I;ENSP00000376692:N347I;ENSP00000376691:N86I;ENSP00000376689:N298I	ENSP00000319883:N347I	N	-	2	0	EMR2	14736289	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.609000	0.05635	-1.278000	0.02408	-2.061000	0.00397	AAC		0.587	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			13	12	0	0	0	1	0	13	12					A	14875289	T	A	14875289	3	1	454	1	0	0	0	0	1	0	0	0	5105	1725	60	5	1475	5	EMR2	19	14875289	Missense_Mutation	SNP	T	TCGA-YL-A8S9-01A-11D-A377-08	5811222	14875289	44253694	36	31056											
ATP1A3	478	broad.mit.edu	37	chr19	42473001	42473001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcagatcggcccactggaCgacaacgatgctcacaaaga	14	5	10	12	3	2	2	2	0	0	2	3	6	2	3	1	2	2	1	1	2	2	0			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr19:42473001C>T	ENST00000302102.5	-	20	2905	c.2755G>A	c.(2755-2757)Gtc>Atc	p.V919I	ATP1A3_ENST00000545399.1_Missense_Mutation_p.V932I|ATP1A3_ENST00000602133.1_Missense_Mutation_p.V889I|ATP1A3_ENST00000543770.1_Missense_Mutation_p.V930I	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	919			Missing (in AHC2). {ECO:0000269|PubMed:22842232}.	V -> A (in Ref. 6; AAA52286). {ECO:0000305}.	adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCCCACTGGACGACAACGATG	0.607																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(2794-2796)Gtc>Atc		ATPase, Na+/K+ transporting, alpha 3 polypeptide							136	99	112					19																	42473001		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42473001C>T		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2755G>A	19.37:g.42473001C>T	ENSP00000302397:p.Val919Ile					ATP1A3_ENST00000543770.1_Missense_Mutation_p.V930I|ATP1A3_ENST00000302102.5_Missense_Mutation_p.V919I|ATP1A3_ENST00000602133.1_Missense_Mutation_p.V889I	p.V932I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			20	2947	-			919					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.2794G>A	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652271	0.67472	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79	3.27	3.27	0.37495	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.148537	0.43110	D	0.000610	D	0.96876	0.8980	M	0.89904	3.07	0.80722	D	1	P;B;P;P	0.52577	0.781;0.417;0.954;0.472	B;B;P;B	0.53006	0.352;0.27;0.715;0.39	D	0.97105	0.9800	10	0.62326	D	0.03	.	12.3948	0.55378	0.0:1.0:0.0:0.0	.	932;930;919;919	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	I	919;919;932;889;663;930	ENSP00000302397:V919I;ENSP00000411503:V919I;ENSP00000444688:V932I;ENSP00000437577:V930I	ENSP00000302397:V919I	V	-	1	0	ATP1A3	47164841	1.000000	0.71417	0.993000	0.49108	0.440000	0.31957	5.930000	0.70104	1.854000	0.53819	0.462000	0.41574	GTC		0.607	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		28	19	0	0	0	1	0	28	19					T	42473001	C	T	42473001	3	4	454	1	0	0	0	0	1	0	0	0	1130	536	19	1	302	1	ATP1A3	19	42473001	Missense_Mutation	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08	27597712	42473001	16655982	37	31057											
CHMP4B	128866	broad.mit.edu	37	chr20	32441333	32441333	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagaggaggacgacgacatGaaggaattggagaactgggc	15	4	17	5	2	0	3	0	1	0	2	0	10	0	6	0	5	1	0	0	5	4	1			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr20:32441333G>C	ENST00000217402.2	+	5	807	c.642G>C	c.(640-642)atG>atC	p.M214I		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	214					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						ACGACGACATGAAGGAATTGG	0.557																																						ENST00000217402.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(640-642)atG>atC		charged multivesicular body protein 4B							129	106	114					20																	32441333		2203	4300	6503	SO:0001583	missense	128866				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr20:32441333G>C	AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"Charged multivesicular body proteins"	16171	protein-coding gene	gene with protein product		610897	"chromosome 20 open reading frame 178", "chromatin modifying protein 4B"	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	ENST00000217402.2:c.642G>C	20.37:g.32441333G>C	ENSP00000217402:p.Met214Ile						p.M214I	NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN			5	807	+			214					E1P5N4|Q53ZD6	Missense_Mutation	SNP	ENST00000217402.2	37	c.642G>C	CCDS13228.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888651	0.33348	.	.	ENSG00000101421	ENST00000217402	T	0.51071	0.72	5.32	4.35	0.52113	.	0.038080	0.85682	D	0.000000	T	0.45617	0.1351	L	0.58583	1.82	0.80722	D	1	B	0.17465	0.022	B	0.17098	0.017	T	0.36866	-0.9730	10	0.30078	T	0.28	-18.8909	15.5069	0.75748	0.0:0.0:0.8603:0.1397	.	214	Q9H444	CHM4B_HUMAN	I	214	ENSP00000217402:M214I	ENSP00000217402:M214I	M	+	3	0	CHMP4B	31904994	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.499000	0.81566	1.343000	0.45638	0.585000	0.79938	ATG		0.557	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078738.2			15	11	0	0	0	1	0	15	11					C	32441333	G	C	32441333	3	2	454	1	0	0	0	0	1	0	0	0	3357	1290	45	5	660	5	CHMP4B	20	32441333	Missense_Mutation	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08		32441333	30584187	38	31058											
CECR2	27443	broad.mit.edu	37	chr22	18029034	18029034	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccctatacccctcagCggccggccagtcactttcag	6	8	9	18	2	3	0	3	0	0	0	4	0	4	0	6	3	2	0	6	3	2	3	rs367797204		TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr22:18029034C>A	ENST00000400585.2	+	17	4003	c.3565C>A	c.(3565-3567)Cgg>Agg	p.R1189R	CECR2_ENST00000400573.5_Silent_p.R1331R|CECR2_ENST00000262608.8_Silent_p.R1332R			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1373					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TACCCCTCAGCGGCCGGCCAG	0.622																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(3994-3996)Cgg>Agg		cat eye syndrome chromosome region, candidate 2							47	53	51					22																	18029034		1929	4133	6062	SO:0001819	synonymous_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18029034C>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3565C>A	22.37:g.18029034C>A						CECR2_ENST00000400585.2_Silent_p.R1189R|CECR2_ENST00000400573.4_Silent_p.R1331R	p.R1332R	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	16	3994	+		all_epithelial(15;0.139)	1373					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400585.2	37	c.3994C>A																																																																																					0.622	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		3	57	1	0	1	1	1	3	57					A	18029034	C	A	18029034	2	1	454	1	0	0	0	0	0	0	0	1	3206	759	27	5		5	CECR2	22	18029034	Silent	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08		18029034	33275532	39	31059											
SLC2A11	66035	broad.mit.edu	37	chr22	24225971	24225971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttgcagtgtgtggtaatcGagagggtgggtcggcgcgtg	5	11	19	6	4	0	1	0	0	0	1	2	2	0	1	0	4	1	2	0	4	1	2	rs79905160	byFrequency	TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr22:24225971G>A	ENST00000345044.6	+	9	1265	c.997G>A	c.(997-999)Gag>Aag	p.E333K	SLC2A11_ENST00000316185.8_Missense_Mutation_p.E336K|SLC2A11_ENST00000398356.2_Missense_Mutation_p.E340K|AP000350.10_ENST00000433835.3_Intron			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	333					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						TGTGGTAATCGAGAGGGTGGG	0.617													G|||	11	0.00219649	8e-04	0.0014	5008	,	,		19261	0		0.004	False		,,,				2504	0.0051					ENST00000345044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						c.(997-999)Gag>Aag		solute carrier family 2 (facilitated glucose transporter), member 11		G	LYS/GLU,LYS/GLU,LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	349	216	261		997,1006,1018	4.2	0.5	22	dbSNP_131	261	44,8556	29.0+/-79.6	0,44,4256	yes	missense,missense,missense	SLC2A11	NM_001024938.2,NM_001024939.2,NM_030807.3	56,56,56	0,46,6457	AA,AG,GG		0.5116,0.0454,0.3537	possibly-damaging,possibly-damaging,possibly-damaging	333/497,336/500,340/504	24225971	46,12960	2203	4300	6503	SO:0001583	missense	66035					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr22:24225971G>A	AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"Solute carriers"	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.997G>A	22.37:g.24225971G>A	ENSP00000342542:p.Glu333Lys					SLC2A11_ENST00000398356.2_Missense_Mutation_p.E340K|SLC2A11_ENST00000316185.8_Missense_Mutation_p.E336K|AP000350.10_ENST00000433835.3_Intron	p.E333K			Q9BYW1	GTR11_HUMAN			9	1265	+			333					E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Missense_Mutation	SNP	ENST00000345044.6	37	c.997G>A	CCDS46673.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	18.55	3.648381	0.67358	4.54E-4	0.005116	ENSG00000133460	ENST00000345044;ENST00000398356;ENST00000316185	T;T;T	0.58506	0.33;0.33;0.33	4.17	4.17	0.49024	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.180340	0.47852	D	0.000213	T	0.73361	0.3577	M	0.91920	3.255	0.46927	D	0.999258	D;D;D	0.76494	0.999;0.996;0.999	P;D;D	0.65684	0.896;0.909;0.937	T	0.83009	-0.0173	10	0.87932	D	0	.	14.8208	0.70070	0.0:0.0:1.0:0.0	.	336;333;340	Q9BYW1-3;Q9BYW1;E9PH55	.;GTR11_HUMAN;.	K	333;340;336	ENSP00000342542:E333K;ENSP00000381399:E340K;ENSP00000326748:E336K	ENSP00000326748:E336K	E	+	1	0	SLC2A11	22555971	1.000000	0.71417	0.535000	0.28026	0.004000	0.04260	8.046000	0.89438	2.267000	0.75376	0.603000	0.83216	GAG		0.617	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		24	37	0	0	0	1	0	24	37					A	24225971	G	A	24225971	3	1	454	1	0	0	0	0	1	0	0	0	14540	1059	37	2	1111	2	SLC2A11	22	24225971	Missense_Mutation	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08	6196937	24225971	27078595	40	31060											
SASH3	54440	broad.mit.edu	37	chrX	128927070	128927070	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcatggatccacagcacCgggccaagctgctcacggcc	10	5	10	16	2	2	0	2	0	0	0	3	1	3	1	4	3	3	3	4	3	1	0	rs142835579		TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chrX:128927070C>A	ENST00000356892.3	+	7	1021	c.907C>A	c.(907-909)Cgg>Agg	p.R303R	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	303	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R303R(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						TCCACAGCACCGGGCCAAGCT	0.587																																						ENST00000356892.3																			1	Substitution - coding silent(1)	p.R303R(1)	upper_aerodigestive_tract(1)	breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(907-909)Cgg>Agg		SAM and SH3 domain containing 3		C		3,3832		0,3,1629,571	83	69	74		907	2.8	1	X	dbSNP_134	74	0,6728		0,0,2428,1872	no	coding-synonymous	SASH3	NM_018990.3		0,3,4057,2443	AA,AC,CC,C		0.0,0.0782,0.0284		303/381	128927070	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	54440							g.chrX:128927070C>A	BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	15975	protein-coding gene	gene with protein product		300441	"chromosome X open reading frame 9"	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.907C>A	X.37:g.128927070C>A							p.R303R	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN			7	1021	+			303			SAM.		A6NCH1|A8K7K8|Q5JZ38	Silent	SNP	ENST00000356892.3	37	c.907C>A	CCDS14614.1																																																																																				0.587	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	NM_018990		21	0	1	0	7.45023e-12	1	7.71164e-12	21	0					A	128927070	C	A	128927070	2	1	454	1	0	0	0	0	0	0	0	1	13849	643	23	5		5	SASH3	23	128927070	Silent	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08		128927070	26343490	41	31061											
CPSF3L	54973	broad.mit.edu	37	chr1	1248291	1248291	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttggcgtccgcgtgtgcGctgaatgacatgtactccac	6	10	11	14	4	0	2	0	2	0	0	2	2	2	2	3	1	2	2	3	1	2	2	rs138107513	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:1248291G>A	ENST00000435064.1	-	12	1252	c.1170C>T	c.(1168-1170)agC>agT	p.S390S	CPSF3L_ENST00000421495.2_Silent_p.S132S|CPSF3L_ENST00000545578.1_Silent_p.S361S|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000419704.1_Silent_p.S289S|CPSF3L_ENST00000411962.1_Silent_p.S292S|CPSF3L_ENST00000450926.2_Silent_p.S368S|CPSF3L_ENST00000540437.1_Silent_p.S396S	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	390					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CCGCGTGTGCGCTGAATGACA	0.637													G|||	5	0.000998403	0	0.0029	5008	,	,		17225	0		0.001	False		,,,				2504	0.002					ENST00000540437.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(1186-1188)agC>agT		cleavage and polyadenylation specific factor 3-like		G		0,4402		0,0,2201	51	49	50		1170	-7.3	0.7	1	dbSNP_134	50	13,8579	9.8+/-36.6	0,13,4283	no	coding-synonymous	CPSF3L	NM_017871.4		0,13,6484	AA,AG,GG		0.1513,0.0,0.1		390/601	1248291	13,12981	2201	4296	6497	SO:0001819	synonymous_variant	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1248291G>A	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.1170C>T	1.37:g.1248291G>A						CPSF3L_ENST00000421495.2_Silent_p.S132S|CPSF3L_ENST00000435064.1_Silent_p.S390S|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000450926.2_Silent_p.S368S|CPSF3L_ENST00000411962.1_Silent_p.S292S|CPSF3L_ENST00000545578.1_Silent_p.S361S|CPSF3L_ENST00000419704.1_Silent_p.S289S	p.S396S	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN		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)	14	1643	-	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)	390					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Silent	SNP	ENST00000435064.1	37	c.1188C>T	CCDS21.1																																																																																				0.637	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		10	16	0	0	0	1	0	10	16					A	1248291	G	A	1248291	2	1	455	1	0	0	0	0	0	0	0	1	3827	1078	38	1		1	CPSF3L	1	1248291	Silent	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08		1248291	248002330	1	31062											
GJB4	127534	broad.mit.edu	37	chr1	35227197	35227197	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacacgggcccaatgccccGtccctgtacgacaacctgag	11	5	9	16	3	0	1	0	1	0	0	1	2	1	1	5	1	4	1	5	1	4	1	rs146404415		TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:35227197G>A	ENST00000339480.1	+	2	712	c.342G>A	c.(340-342)ccG>ccA	p.P114P	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	114					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.P114P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CCAATGCCCCGTCCCTGTACG	0.617													g|||	1	0.000199681	0	0	5008	,	,		21908	0.001		0	False		,,,				2504	0					ENST00000339480.1																			1	Substitution - coding silent(1)	p.P114P(1)	ovary(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16						c.(340-342)ccG>ccA		gap junction protein, beta 4, 30.3kDa		A		0,4406		0,0,2203	96	70	79		342	-7.1	0	1	dbSNP_134	79	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	GJB4	NM_153212.2		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		114/267	35227197	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227197G>A		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"Ion channels / Gap junction proteins (connexins)"	4286	protein-coding gene	gene with protein product	"connexin 30.3"	605425	"gap junction protein, beta 4 (connexin 30.3)", "gap junction protein, beta 4"				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.342G>A	1.37:g.35227197G>A						RP1-34M23.5_ENST00000542839.1_RNA	p.P114P	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN			2	712	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	114					B3KQ82	Silent	SNP	ENST00000339480.1	37	c.342G>A	CCDS383.1																																																																																				0.617	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		10	30	0	0	0	1	0	10	30					A	35227197	G	A	35227197	2	1	455	1	0	0	0	0	0	0	0	1	6410	1132	40	1		1	GJB4	1	35227197	Silent	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08	33978906	35227197	214023424	2	31063											
AMY2A	279	broad.mit.edu	37	chr1	104160147	104160147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaaggacggacatctattGttcatctgtttgaatggcga	12	12	10	7	2	3	1	1	1	2	0	3	4	3	3	0	3	1	2	0	3	4	4			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:104160147G>T	ENST00000414303.2	+	1	149	c.85G>T	c.(85-87)Gtt>Ttt	p.V29F		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	29					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	GACATCTATTGTTCATCTGTT	0.428																																						ENST00000414303.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(85-87)Gtt>Ttt		amylase, alpha 2A (pancreatic)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)						160	134	143					1																	104160147		2201	4278	6479	SO:0001583	missense	279				carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	g.chr1:104160147G>T	BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"amylase, alpha 2A; pancreatic"	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.85G>T	1.37:g.104160147G>T	ENSP00000397582:p.Val29Phe						p.V29F	NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	1	149	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	29					B9EJG1|Q9UBH3	Missense_Mutation	SNP	ENST00000414303.2	37	c.85G>T	CCDS783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.57|16.57	3.160647|3.160647	0.57368|0.57368	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000423678|ENST00000414303;ENST00000393932	.|.	.|.	.|.	3.22|3.22	3.22|3.22	0.36961|0.36961	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82314|0.82314	0.5010|0.5010	M|M	0.92833|0.92833	3.35|3.35	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.87339|0.87339	0.2330|0.2330	5|9	.|0.87932	.|D	.|0	.|.	14.5293|14.5293	0.67912|0.67912	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|29;29	.|B9EJG1;P04746	.|.;AMYP_HUMAN	F|F	27|29	.|.	.|ENSP00000377509:V29F	C|V	+|+	2|1	0|0	AMY2A|AMY2A	103961670|103961670	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.383000|0.383000	0.30230|0.30230	7.105000|7.105000	0.77031|0.77031	1.784000|1.784000	0.52394|0.52394	0.455000|0.455000	0.32223|0.32223	TGT|GTT		0.428	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	NM_000699		5	293	1	0	0.00307968	1	0.00307968	5	293					T	104160147	G	T	104160147	3	4	455	1	0	0	0	0	1	0	0	0	594	1377	48	5	87	5	AMY2A	1	104160147	Missense_Mutation	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08	68932950	104160147	145090474	3	31064											
FLG2	388698	broad.mit.edu	37	chr1	152323407	152323407	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaactgtggatcctggCtgtctttgttgagatccagc	7	13	11	10	0	1	2	0	2	1	1	3	4	3	3	3	2	2	2	3	2	1	2			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:152323407C>A	ENST00000388718.5	-	3	6927	c.6855G>T	c.(6853-6855)caG>caT	p.Q2285H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2285					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			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)			TGGATCCTGGCTGTCTTTGTT	0.507																																						ENST00000388718.5																			0				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						c.(6853-6855)caG>caT		filaggrin family member 2							283	258	266					1																	152323407		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323407C>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6855G>T	1.37:g.152323407C>A	ENSP00000373370:p.Gln2285His					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.Q2285H	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6927	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2285					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6855G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617175	0.46736	.	.	ENSG00000143520	ENST00000388718	T	0.03889	3.77	4.47	-2.71	0.05986	.	.	.	.	.	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	1	D	0.64830	0.994	D	0.67900	0.954	T	0.36040	-0.9764	9	0.27785	T	0.31	0.3931	3.1326	0.06429	0.3026:0.3219:0.0:0.3755	.	2285	Q5D862	FILA2_HUMAN	H	2285	ENSP00000373370:Q2285H	ENSP00000373370:Q2285H	Q	-	3	2	FLG2	150590031	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.952000	0.00677	-0.449000	0.07117	0.297000	0.19635	CAG		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		64	87	1	0	1.44317e-28	1	1.80396e-28	64	87					A	152323407	C	A	152323407	3	1	455	1	0	0	0	0	1	0	0	0	5923	796	28	5	324	5	FLG2	1	152323407	Missense_Mutation	SNP	C	TCGA-YL-A8SA-01A-21D-A377-08	48163260	152323407	96927214	4	31065											
FLG2	388698	broad.mit.edu	37	chr1	152327428	152327428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttgtccaaatccaaaaGtctgtcctgaacttgaccca	11	12	7	11	0	1	2	0	2	1	0	4	2	4	2	4	0	1	1	4	0	4	2			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:152327428G>T	ENST00000388718.5	-	3	2906	c.2834C>A	c.(2833-2835)aCt>aAt	p.T945N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	945	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			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)			AAATCCAAAAGTCTGTCCTGA	0.493																																						ENST00000388718.5																			0				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						c.(2833-2835)aCt>aAt		filaggrin family member 2							313	310	311					1																	152327428		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327428G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2834C>A	1.37:g.152327428G>T	ENSP00000373370:p.Thr945Asn					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.T945N	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2906	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		945			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2834C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	7.241	0.601188	0.13939	.	.	ENSG00000143520	ENST00000388718	T	0.21191	2.02	4.05	-0.695	0.11291	.	.	.	.	.	T	0.05731	0.0150	L	0.47716	1.5	0.09310	N	1	B	0.30326	0.276	B	0.22880	0.042	T	0.32455	-0.9906	9	0.34782	T	0.22	.	8.5019	0.33163	0.0:0.4731:0.3656:0.1613	.	945	Q5D862	FILA2_HUMAN	N	945	ENSP00000373370:T945N	ENSP00000373370:T945N	T	-	2	0	FLG2	150594052	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.780000	0.26760	0.014000	0.14944	-0.176000	0.13171	ACT		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		5	250	1	0	0.00116845	1	0.001195	5	250					T	152327428	G	T	152327428	3	4	455	1	0	0	0	0	1	0	0	0	5923	1029	36	5	4345	5	FLG2	1	152327428	Missense_Mutation	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08	4021	152327428	96923193	5	31066											
LCE2A	353139	broad.mit.edu	37	chr1	152671573	152671573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagctctgggggtggcGgctgctgcctgagccaccac	4	7	16	14	1	1	1	0	1	1	0	1	1	1	1	3	4	5	5	3	4	0	0			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:152671573G>A	ENST00000368779.1	+	2	247	c.196G>A	c.(196-198)Ggc>Agc	p.G66S		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	66	Cys-rich.				keratinization (GO:0031424)					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGGGTGGCGGCTGCTGCCT	0.687																																						ENST00000368779.1																			0				breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(196-198)Ggc>Agc		late cornified envelope 2A							35	45	42					1																	152671573		2200	4297	6497	SO:0001583	missense	353139				keratinization			g.chr1:152671573G>A		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"Late cornified envelopes"	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.196G>A	1.37:g.152671573G>A	ENSP00000357768:p.Gly66Ser						p.G66S	NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	247	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		66			Cys-rich.		A4QMZ9	Missense_Mutation	SNP	ENST00000368779.1	37	c.196G>A	CCDS1021.1	.	.	.	.	.	.	.	.	.	.	G	1.688	-0.504682	0.04261	.	.	ENSG00000187173	ENST00000368779	T	0.04603	3.59	4.61	0.0903	0.14463	.	.	.	.	.	T	0.01627	0.0052	L	0.58428	1.81	0.09310	N	1	B	0.33379	0.41	B	0.24394	0.053	T	0.40869	-0.9540	9	0.87932	D	0	.	6.001	0.19521	0.1679:0.0:0.5752:0.2569	.	66	Q5TA79	LCE2A_HUMAN	S	66	ENSP00000357768:G66S	ENSP00000357768:G66S	G	+	1	0	LCE2A	150938197	0.017000	0.18338	0.061000	0.19648	0.001000	0.01503	-0.301000	0.08232	-0.215000	0.10063	-2.142000	0.00338	GGC		0.687	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	NM_178428		5	80	0	0	0	1	0	5	80					A	152671573	G	A	152671573	3	1	455	1	0	0	0	0	1	0	0	0	8665	1116	39	2	198	2	LCE2A	1	152671573	Missense_Mutation	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08	344145	152671573	96579048	6	31067											
C2orf16	84226	broad.mit.edu	37	chr2	27804461	27804461	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaagacatcgcagtccctcCcagaggagccatcgcggtcc	10	5	11	15	3	0	3	0	0	0	3	5	4	3	4	4	2	1	1	4	2	1	0			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:27804461C>A	ENST00000408964.2	+	1	5073	c.5022C>A	c.(5020-5022)tcC>tcA	p.S1674S	ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1674	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCAGTCCCTCCCAGAGGAGCC	0.572																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5020-5022)tcC>tcA		chromosome 2 open reading frame 16							146	149	148					2																	27804461		1904	4124	6028	SO:0001819	synonymous_variant	84226							g.chr2:27804461C>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5022C>A	2.37:g.27804461C>A							p.S1674S	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5073	+	Acute lymphoblastic leukemia(172;0.155)		1674			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.5022C>A	CCDS42666.1																																																																																				0.572	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		64	92	1	0	7.05995e-25	1	8.36047e-25	64	92					A	27804461	C	A	27804461	2	1	455	1	0	0	0	0	0	0	0	1	2157	610	22	5		5	C2orf16	2	27804461	Silent	SNP	C	TCGA-YL-A8SA-01A-21D-A377-08		27804461	215394912	7	31068											
HEATR5B	54497	broad.mit.edu	37	chr2	37284597	37284597	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagtgaattccgctaccaGttctctaagaagtgcattaa	14	11	7	9	1	1	2	0	1	1	1	3	2	2	2	2	0	2	3	2	0	6	5			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:37284597G>A	ENST00000233099.5	-	15	2181	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	HEATR5B_ENST00000354531.2_Silent_p.L696L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	696						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TCCGCTACCAGTTCTCTAAGA	0.368																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(2086-2088)Ctg>Ttg		HEAT repeat containing 5B							110	110	110					2																	37284597		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37284597G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2086C>T	2.37:g.37284597G>A						HEATR5B_ENST00000354531.2_Silent_p.L696L	p.L696L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			15	2181	-		all_hematologic(82;0.21)	696					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.2086C>T	CCDS33181.1																																																																																				0.368	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		15	27	0	0	0	1	0	15	27					A	37284597	G	A	37284597	2	1	455	1	0	0	0	0	0	0	0	1	7032	1020	36	3		3	HEATR5B	2	37284597	Silent	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08	9480136	37284597	205914776	8	31069											
SCN2A	6326	broad.mit.edu	37	chr2	166165198	166165198	+	Frame_Shift_Del	DEL	A	A	-																															atacctttacaggaatttatActtttgaatcacttattaaa																										TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:166165198delA	ENST00000375437.2	+	5	789	c.499delA	c.(499-501)actfs	p.T167fs	SCN2A_ENST00000357398.3_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000283256.6_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000375427.2_Frame_Shift_Del_p.T167fs	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	167					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGAATTTATACTTTTGAATC	0.313																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(499-501)ctfs		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						72	78	76					2																	166165198		2197	4296	6493	SO:0001589	frameshift_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166165198delA	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.499delA	2.37:g.166165198delA	ENSP00000364586:p.Thr167fs					SCN2A_ENST00000283256.6_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000375427.2_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000357398.3_Frame_Shift_Del_p.T167fs	p.T167fs	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			5	789	+			167					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Frame_Shift_Del	DEL	ENST00000375437.2	37	c.499delA	CCDS33314.1																																																																																				0.313	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		24	51						24	51	---	---	---	---	-	166165198	A	-	166165198	7	5	455	1	0	1	0	1	0	0	0	0	13916	391	14	0	513	0	SCN2A	2	166165198	Frame_Shift_Del	DEL	A	TCGA-YL-A8SA-01A-21D-A377-08	128880601	166165198	77034175	9	31070											
CIR1	9541	broad.mit.edu	37	chr2	175213457	175213457	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttctgctgctcccctccTttctttcagagcctctcttc	2	16	6	17	0	4	1	1	0	3	1	8	1	6	1	4	1	3	3	4	1	0	4			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:175213457T>G	ENST00000342016.3	-	10	1213	c.1121A>C	c.(1120-1122)aAg>aCg	p.K374T	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	374	Arg/Ser-rich (RS domain).				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						GCTCCCCTCCTTTCTTTCAGA	0.527																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(1120-1122)aAg>aCg		corepressor interacting with RBPJ, 1							100	103	102					2																	175213457		2203	4300	6503	SO:0001583	missense	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213457T>G	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"recepin", "CBF1 interacting corepressor"	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.1121A>C	2.37:g.175213457T>G	ENSP00000339723:p.Lys374Thr					CIR1_ENST00000362053.5_3'UTR	p.K374T	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			10	1213	-			374			Arg/Ser-rich (RS domain).		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	ENST00000342016.3	37	c.1121A>C	CCDS2256.1	.	.	.	.	.	.	.	.	.	.	T	5.798	0.331529	0.10956	.	.	ENSG00000138433	ENST00000342016	.	.	.	6.16	-0.415	0.12355	.	1.513000	0.03180	N	0.171975	T	0.33352	0.0860	L	0.38175	1.15	0.09310	N	1	B;B	0.20887	0.049;0.012	B;B	0.19666	0.026;0.01	T	0.18241	-1.0343	9	0.39692	T	0.17	.	5.7743	0.18271	0.0:0.2729:0.1288:0.5984	.	374;374	A0PJI7;Q86X95	.;CIR1_HUMAN	T	374	.	ENSP00000339723:K374T	K	-	2	0	CIR1	174921703	0.003000	0.15002	0.001000	0.08648	0.044000	0.14063	0.467000	0.22035	-0.269000	0.09298	-0.256000	0.11100	AAG		0.527	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		23	11	0	0	0	1	0	23	11					G	175213457	T	G	175213457	3	3	455	1	0	0	0	0	1	0	0	0	3432	1609	56	5	235	5	CIR1	2	175213457	Missense_Mutation	SNP	T	TCGA-YL-A8SA-01A-21D-A377-08	9048259	175213457	67985916	10	31071											
AAMP	14	broad.mit.edu	37	chr2	219129773	219129773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtccaggatctcagccGtgtggccccggtagtcagta	9	8	12	12	2	2	0	2	0	1	0	4	1	3	1	4	3	1	2	4	3	3	2	rs370095659		TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:219129773G>A	ENST00000248450.4	-	10	1369	c.1199C>T	c.(1198-1200)aCg>aTg	p.T400M	AAMP_ENST00000444053.1_Missense_Mutation_p.T401M|AAMP_ENST00000420660.1_Missense_Mutation_p.T381M			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	400					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		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)		GATCTCAGCCGTGTGGCCCCG	0.592																																						ENST00000248450.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11						c.(1198-1200)aCg>aTg		angio-associated, migratory cell protein							81	88	86					2																	219129773		2203	4300	6503	SO:0001583	missense	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219129773G>A	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"WD repeat domain containing"	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.1199C>T	2.37:g.219129773G>A	ENSP00000248450:p.Thr400Met					AAMP_ENST00000444053.1_Missense_Mutation_p.T401M|AAMP_ENST00000420660.1_Missense_Mutation_p.T381M	p.T400M			Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1369	-		Renal(207;0.0474)	400					Q8WUJ9|Q96H92	Missense_Mutation	SNP	ENST00000248450.4	37	c.1199C>T	CCDS33378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.49|15.49	2.847958|2.847958	0.51164|0.51164	.|.	.|.	ENSG00000127837|ENSG00000127837	ENST00000422731|ENST00000248450;ENST00000444053;ENST00000420660	.|T;T;T	.|0.65549	.|-0.16;-0.16;-0.16	5.6|5.6	3.8|3.8	0.43715|0.43715	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.367618	.|0.32548	.|N	.|0.005942	T|T	0.73458|0.73458	0.3589|0.3589	M|M	0.81239|0.81239	2.535|2.535	0.42232|0.42232	D|D	0.991892|0.991892	.|D;D;D	.|0.65815	.|0.988;0.992;0.995	.|P;P;P	.|0.55545	.|0.703;0.684;0.778	T|T	0.76179|0.76179	-0.3054|-0.3054	5|10	.|0.59425	.|D	.|0.04	-1.1235|-1.1235	11.9109|11.9109	0.52739|0.52739	0.1403:0.0:0.8597:0.0|0.1403:0.0:0.8597:0.0	.|.	.|401;400;381	.|C9JEH3;Q13685;C9JG97	.|.;AAMP_HUMAN;.	W|M	155|400;401;381	.|ENSP00000248450:T400M;ENSP00000403343:T401M;ENSP00000416394:T381M	.|ENSP00000248450:T400M	R|T	-|-	1|2	2|0	AAMP|AAMP	218838017|218838017	1.000000|1.000000	0.71417|0.71417	0.600000|0.600000	0.28864|0.28864	0.462000|0.462000	0.32619|0.32619	4.520000|4.520000	0.60524|0.60524	0.744000|0.744000	0.32741|0.32741	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.592	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		4	98	0	0	0	1	0	4	98					A	219129773	G	A	219129773	3	1	455	1	0	0	0	0	1	0	0	0	17	1145	40	1	113	1	AAMP	2	219129773	Missense_Mutation	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08	43916316	219129773	24069600	11	31072											
RBM44	375316	broad.mit.edu	37	chr2	238737875	238737875	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttagatatgcatctcttgcTtttacaaaaaacagcgatgc	13	14	6	8	1	1	1	0	0	1	1	2	2	1	1	0	0	6	2	0	0	6	6			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:238737875T>C	ENST00000409864.1	+	13	2873	c.2619T>C	c.(2617-2619)gcT>gcC	p.A873A	RBM44_ENST00000316997.4_Silent_p.A873A			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	872	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CATCTCTTGCTTTTACAAAAA	0.323																																						ENST00000316997.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2617-2619)gcT>gcC		RNA binding motif protein 44							66	64	64					2																	238737875		1818	4080	5898	SO:0001819	synonymous_variant	375316						nucleotide binding|RNA binding	g.chr2:238737875T>C	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.2619T>C	2.37:g.238737875T>C						RBM44_ENST00000409864.1_Silent_p.A873A	p.A873A	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN		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)	13	2751	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	872			RRM.		A0AUW3	Silent	SNP	ENST00000409864.1	37	c.2619T>C	CCDS46554.1																																																																																				0.323	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		2	4	0	0	0	1	0	2	4					C	238737875	T	C	238737875	2	2	455	1	0	0	0	0	0	0	0	1	13138	1596	56	4		4	RBM44	2	238737875	Silent	SNP	T	TCGA-YL-A8SA-01A-21D-A377-08	19608102	238737875	4461498	12	31073											
ANKRD28	23243	broad.mit.edu	37	chr3	15736275	15736275	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaagggcttattgttgctcTattatctgaatcactcagca	11	15	7	8	0	4	1	2	1	2	0	4	1	4	1	0	1	2	4	0	1	6	6			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr3:15736275T>A	ENST00000399451.2	-	17	2009	c.1642A>T	c.(1642-1644)Aga>Tga	p.R548*	ANKRD28_ENST00000383777.1_Nonsense_Mutation_p.R581*|MIR3134_ENST00000579433.1_RNA|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	548						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATTGTTGCTCTATTATCTGAA	0.373																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(1642-1644)Aga>Tga		ankyrin repeat domain 28							160	148	152					3																	15736275		1878	4116	5994	SO:0001587	stop_gained	23243					nucleoplasm	protein binding	g.chr3:15736275T>A	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1642A>T	3.37:g.15736275T>A	ENSP00000382379:p.Arg548*					ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Nonsense_Mutation_p.R581*	p.R548*	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN			17	2009	-			548					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Nonsense_Mutation	SNP	ENST00000399451.2	37	c.1642A>T	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	T	39	7.416826	0.98272	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	.	.	.	5.58	4.4	0.53042	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	12.8974	0.58108	0.0:0.0:0.1355:0.8645	.	.	.	.	X	548;581;548	.	ENSP00000373287:R581X	R	-	1	2	ANKRD28	15711279	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	2.562000	0.45914	0.916000	0.36871	0.533000	0.62120	AGA		0.373	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		22	30	0	0	0	1	0	22	30					A	15736275	T	A	15736275	4	1	455	1	0	0	0	0	0	1	0	0	656	1530	53	5	1567	5	ANKRD28	3	15736275	Nonsense_Mutation	SNP	T	TCGA-YL-A8SA-01A-21D-A377-08		15736275	182286155	13	31074											
MCM2	4171	broad.mit.edu	37	chr3	127327355	127327355	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcaagccaggagacgAgatagtaagtggccggggca	12	4	16	9	2	0	2	0	0	0	2	0	4	0	2	2	4	3	4	2	4	3	2			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr3:127327355A>G	ENST00000265056.7	+	7	1476	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	411					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						CCAGGAGACGAGATAGTAAGT	0.642																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(1231-1233)gAg>gGg		minichromosome maintenance complex component 2							36	41	39					3																	127327355		2203	4300	6503	SO:0001583	missense	4171				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	g.chr3:127327355A>G	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1232A>G	3.37:g.127327355A>G	ENSP00000265056:p.Glu411Gly						p.E411G	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			7	1476	+			411					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.1232A>G	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.5|24.5	4.538835|4.538835	0.85917|0.85917	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	T|.	0.29397|.	1.57|.	5.31|5.31	5.31|5.31	0.75309|0.75309	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87305|0.87305	0.6144|0.6144	H|H	0.95884|0.95884	3.735|3.735	0.80722|0.80722	D|D	1|1	P;P;P|.	0.45715|.	0.763;0.865;0.716|.	B;P;P|.	0.54590|.	0.229;0.756;0.653|.	D|D	0.91344|0.91344	0.5099|0.5099	10|5	0.87932|.	D|.	0|.	-42.2017|-42.2017	14.9147|14.9147	0.70785|0.70785	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	392;281;411|.	F5H1E9;B4DSV5;P49736|.	.;.;MCM2_HUMAN|.	G|G	411;315;392|274	ENSP00000265056:E411G|.	ENSP00000265056:E411G|.	E|R	+|+	2|1	0|2	MCM2|MCM2	128810045|128810045	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.960000|0.960000	0.62799|0.62799	7.125000|7.125000	0.77193|0.77193	2.004000|2.004000	0.58718|0.58718	0.482000|0.482000	0.46254|0.46254	GAG|AGA		0.642	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			16	20	0	0	0	1	0	16	20					G	127327355	A	G	127327355	3	3	455	1	0	0	0	0	1	0	0	0	9386	304	11	4	1258	4	MCM2	3	127327355	Missense_Mutation	SNP	A	TCGA-YL-A8SA-01A-21D-A377-08	111591080	127327355	70695075	14	31075											
DVL3	1857	broad.mit.edu	37	chr3	183888412	183888412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatgcccccgccgcccGcggccatggggcccccagga	5	4	14	18	4	0	2	0	2	0	0	0	3	0	3	7	4	1	0	7	4	0	0			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr3:183888412G>A	ENST00000313143.3	+	15	2268	c.2020G>A	c.(2020-2022)Gcg>Acg	p.A674T	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.A657T	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	674					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			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)			CCCGCCGCCCGCGGCCATGGG	0.721																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(2020-2022)Gcg>Acg		dishevelled segment polarity protein 3							13	17	16					3																	183888412		2192	4277	6469	SO:0001583	missense	1857				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	g.chr3:183888412G>A	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"Dishevelled homologs"	3087	protein-coding gene	gene with protein product		601368	"dishevelled 3 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 3 (Drosophila)"			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.2020G>A	3.37:g.183888412G>A	ENSP00000316054:p.Ala674Thr					DVL3_ENST00000431765.1_Missense_Mutation_p.A657T|EIF2B5_ENST00000444495.1_Intron	p.A674T	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		15	2268	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		674					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.2020G>A	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	7.604	0.673431	0.14776	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.03663	3.85;3.85	3.91	2.09	0.27110	Dishevelled C-terminal (1);	0.330762	0.30940	N	0.008576	T	0.01287	0.0042	N	0.02247	-0.625	0.20975	N	0.999819	B;B;B;B	0.21905	0.001;0.032;0.062;0.001	B;B;B;B	0.20577	0.001;0.03;0.003;0.001	T	0.48007	-0.9072	10	0.10377	T	0.69	-12.5391	4.6044	0.12371	0.1942:0.0:0.5168:0.289	.	657;506;674;674	B4E3E5;Q9UG07;F5GWR8;Q92997	.;.;.;DVL3_HUMAN	T	674;674;657	ENSP00000316054:A674T;ENSP00000405885:A657T	ENSP00000316054:A674T	A	+	1	0	DVL3	185371106	0.007000	0.16637	0.324000	0.25361	0.957000	0.61999	0.787000	0.26858	0.256000	0.21614	-0.254000	0.11334	GCG		0.721	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		7	10	0	0	0	1	0	7	10					A	183888412	G	A	183888412	3	1	455	1	0	0	0	0	1	0	0	0	4837	1087	38	1	2078	1	DVL3	3	183888412	Missense_Mutation	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08	56561057	183888412	14134018	15	31076											
EVC2	132884	broad.mit.edu	37	chr4	5642366	5642366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcaatgccaccatcttccGatcgtactcctcttgtattt	7	16	5	13	2	3	0	1	0	2	0	6	1	5	0	4	0	2	2	4	0	3	5			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr4:5642366G>A	ENST00000344408.5	-	10	1398	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	EVC2_ENST00000344938.1_Missense_Mutation_p.R449W|EVC2_ENST00000310917.2_Missense_Mutation_p.R369W	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	449					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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						ACCATCTTCCGATCGTACTCC	0.443																																						ENST00000310917.2																			0				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						c.(1105-1107)Cgg>Tgg		Ellis van Creveld syndrome 2							318	290	300					4																	5642366		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5642366G>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1345C>T	4.37:g.5642366G>A	ENSP00000342144:p.Arg449Trp					EVC2_ENST00000344408.5_Missense_Mutation_p.R449W|EVC2_ENST00000344938.1_Missense_Mutation_p.R449W	p.R369W	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			10	1836	-			449					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.1105C>T	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210828	0.58343	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.80033	-1.33;-1.33;-1.33	4.25	3.33	0.38152	.	0.122898	0.53938	D	0.000051	D	0.86564	0.5963	M	0.69823	2.125	0.42253	D	0.991984	D	0.89917	1.0	D	0.74348	0.983	D	0.86889	0.2047	10	0.59425	D	0.04	-20.562	9.7044	0.40207	0.0:0.0:0.6107:0.3893	.	449	Q86UK5	LBN_HUMAN	W	449;369;449	ENSP00000339954:R449W;ENSP00000311683:R369W;ENSP00000342144:R449W	ENSP00000311683:R369W	R	-	1	2	EVC2	5693267	0.988000	0.35896	0.990000	0.47175	0.706000	0.40770	2.558000	0.45879	2.074000	0.62210	0.591000	0.81541	CGG		0.443	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		7	146	0	0	0	1	0	7	146					A	5642366	G	A	5642366	3	1	455	1	0	0	0	0	1	0	0	0	5286	1057	37	2	2633	2	EVC2	4	5642366	Missense_Mutation	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08		5642366	185511910	16	31077											
NDST4	64579	broad.mit.edu	37	chr4	115767000	115767000	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtaccaagagtatgccctGtctgaggggtcaatgaggat	10	10	14	7	0	2	3	1	2	1	1	2	4	2	4	2	4	2	2	2	4	4	2			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr4:115767000G>C	ENST00000264363.2	-	10	2772	c.2094C>G	c.(2092-2094)gaC>gaG	p.D698E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	698	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGTATGCCCTGTCTGAGGGGT	0.423																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2092-2094)gaC>gaG		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							122	116	118					4																	115767000		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115767000G>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2094C>G	4.37:g.115767000G>C	ENSP00000264363:p.Asp698Glu						p.D698E	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	10	2772	-		Ovarian(17;0.156)	698			Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.2094C>G	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214702	0.39102	.	.	ENSG00000138653	ENST00000264363	D	0.87334	-2.24	5.61	2.99	0.34606	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.81702	0.4878	L	0.45352	1.415	0.42707	D	0.993632	B	0.28850	0.225	B	0.34991	0.193	T	0.72564	-0.4255	10	0.30854	T	0.27	.	8.4982	0.33141	0.3599:0.0:0.6401:0.0	.	698	Q9H3R1	NDST4_HUMAN	E	698	ENSP00000264363:D698E	ENSP00000264363:D698E	D	-	3	2	NDST4	115986449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.498000	0.35660	0.328000	0.23435	0.655000	0.94253	GAC		0.423	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		15	40	0	0	0	1	0	15	40					C	115767000	G	C	115767000	3	2	455	1	0	0	0	0	1	0	0	0	10258	1368	48	5	544	5	NDST4	4	115767000	Missense_Mutation	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08	110124634	115767000	75387276	17	31078											
PCDHB1	29930	broad.mit.edu	37	chr5	140432268	140432268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgggaattcttactcactgGtcactgacagaagcttggat	10	13	10	8	0	3	2	2	1	1	1	3	4	3	4	0	3	2	1	0	3	3	4			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr5:140432268G>T	ENST00000306549.3	+	1	1290	c.1213G>T	c.(1213-1215)Gtc>Ttc	p.V405F		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	405	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			TTACTCACTGGTCACTGACAG	0.483																																						ENST00000306549.3																			0				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						c.(1213-1215)Gtc>Ttc									104	102	103					5																	140432268		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432268G>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1213G>T	5.37:g.140432268G>T	ENSP00000307234:p.Val405Phe						p.V405F	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1290	+			405			Cadherin 4.		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.1213G>T	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343506	0.24339	.	.	ENSG00000171815	ENST00000306549	T	0.02812	4.15	6.17	4.39	0.52855	Cadherin (4);Cadherin-like (1);	0.000000	0.42821	D	0.000646	T	0.12092	0.0294	M	0.87381	2.88	0.37346	D	0.910592	P	0.45672	0.864	P	0.51487	0.671	T	0.03202	-1.1061	10	0.66056	D	0.02	.	13.2469	0.60028	0.1314:0.0:0.8686:0.0	.	405	Q9Y5F3	PCDB1_HUMAN	F	405	ENSP00000307234:V405F	ENSP00000307234:V405F	V	+	1	0	PCDHB1	140412452	0.971000	0.33674	0.986000	0.45419	0.029000	0.11900	2.199000	0.42715	1.632000	0.50472	-0.140000	0.14226	GTC		0.483	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		27	47	1	0	1.88708e-17	1	2.1774e-17	27	47					T	140432268	G	T	140432268	3	4	455	1	0	0	0	0	1	0	0	0	11534	1261	44	5	1215	5	PCDHB1	5	140432268	Missense_Mutation	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08		140432268	40482992	18	31079											
SPINK5	11005	broad.mit.edu	37	chr5	147505314	147505314	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgaatttcgaaactataTaaggaacaatgaactcatct	17	11	6	7	1	2	2	1	2	1	0	3	4	2	3	0	1	3	0	0	1	8	4			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr5:147505314T>C	ENST00000256084.7	+	29	2810	c.2768T>C	c.(2767-2769)aTa>aCa	p.I923T	SPINK5_ENST00000359874.3_Missense_Mutation_p.I953T	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	923	Kazal-like 14. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			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)			CGAAACTATATAAGGAACAAT	0.413																																						ENST00000359874.3																			0				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						c.(2857-2859)aTa>aCa		serine peptidase inhibitor, Kazal type 5							211	207	208					5																	147505314		1914	4127	6041	SO:0001583	missense	11005				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	g.chr5:147505314T>C	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2768T>C	5.37:g.147505314T>C	ENSP00000256084:p.Ile923Thr					SPINK5_ENST00000256084.7_Missense_Mutation_p.I923T	p.I953T	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		30	2931	+			923			Kazal-like 14.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.2858T>C	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.248802	0.22880	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	T;T	0.06068	3.35;3.35	5.5	0.265	0.15612	Proteinase inhibitor I1, Kazal (1);	2.489640	0.01513	N	0.018001	T	0.05364	0.0142	L	0.29908	0.895	0.09310	N	1	B;B	0.19200	0.015;0.034	B;B	0.23150	0.038;0.044	T	0.37820	-0.9689	10	0.10111	T	0.7	5.8793	4.5343	0.12020	0.0:0.2551:0.1581:0.5867	.	953;923	Q9NQ38-3;Q9NQ38	.;ISK5_HUMAN	T	953;923	ENSP00000352936:I953T;ENSP00000256084:I923T	ENSP00000256084:I923T	I	+	2	0	SPINK5	147485507	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.192000	0.09587	-0.097000	0.12307	0.533000	0.62120	ATA		0.413	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		60	90	0	0	0	1	0	60	90					C	147505314	T	C	147505314	3	2	455	1	0	0	0	0	1	0	0	0	15061	1406	49	4	2988	4	SPINK5	5	147505314	Missense_Mutation	SNP	T	TCGA-YL-A8SA-01A-21D-A377-08	7073046	147505314	33409946	19	31080											
UBLCP1	134510	broad.mit.edu	37	chr5	158696066	158696066	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccaaaagttacttggacTcaaagttaaaggtaattctc	15	11	7	8	1	2	0	1	0	1	0	3	1	2	1	1	2	1	3	1	2	7	5			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr5:158696066T>G	ENST00000296786.6	+	2	469	c.143T>G	c.(142-144)cTc>cGc	p.L48R		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	48	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTACTTGGACTCAAAGTTAAA	0.318																																						ENST00000296786.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9						c.(142-144)cTc>cGc		ubiquitin-like domain containing CTD phosphatase 1							83	80	81					5																	158696066		2203	4300	6503	SO:0001583	missense	134510					nucleus	phosphoprotein phosphatase activity	g.chr5:158696066T>G	AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	28110	protein-coding gene	gene with protein product	"CTD phosphatase-like with ubiquitin domain 1"	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.143T>G	5.37:g.158696066T>G	ENSP00000296786:p.Leu48Arg						p.L48R	NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	469	+	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	48			Ubiquitin-like.		D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	c.143T>G	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577063	0.86645	.	.	ENSG00000164332	ENST00000296786	T	0.45668	0.89	6.02	6.02	0.97574	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78084	-0.2342	10	0.72032	D	0.01	-11.6649	16.5494	0.84464	0.0:0.0:0.0:1.0	.	48	Q8WVY7	UBCP1_HUMAN	R	48	ENSP00000296786:L48R	ENSP00000296786:L48R	L	+	2	0	UBLCP1	158628644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.665000	0.83852	2.299000	0.77371	0.528000	0.53228	CTC		0.318	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		25	44	0	0	0	1	0	25	44					G	158696066	T	G	158696066	3	3	455	1	0	0	0	0	1	0	0	0	16888	1551	54	5	145	5	UBLCP1	5	158696066	Missense_Mutation	SNP	T	TCGA-YL-A8SA-01A-21D-A377-08	11190752	158696066	22219194	20	31081											
KIFC1	3833	broad.mit.edu	37	chr6	33374066	33374066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagccacagtgtattccagCtacagatttctggggagcac	10	9	11	11	0	1	1	0	0	1	1	2	2	2	2	2	2	4	4	2	2	2	4			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr6:33374066C>A	ENST00000428849.2	+	8	2080	c.1630C>A	c.(1630-1632)Cta>Ata	p.L544I		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	544	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGTATTCCAGCTACAGATTTC	0.642																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(1630-1632)Cta>Ata		kinesin family member C1							96	109	104					6																	33374066		2203	4300	6503	SO:0001583	missense	3833				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	g.chr6:33374066C>A	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"Kinesins"	6389	protein-coding gene	gene with protein product		603763	"kinesin-like 2"	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1630C>A	6.37:g.33374066C>A	ENSP00000393963:p.Leu544Ile						p.L544I	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			8	2080	+			544			Kinesin-motor.		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.1630C>A	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.984003	0.74474	.	.	ENSG00000237649	ENST00000428849	T	0.42131	0.98	5.11	4.24	0.50183	Kinesin, motor domain (5);	0.000000	0.64402	D	0.000002	T	0.28928	0.0718	N	0.11560	0.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.36890	-0.9729	10	0.72032	D	0.01	-0.106	7.6193	0.28177	0.0:0.8136:0.0:0.1864	.	536;544	B4E063;Q9BW19	.;KIFC1_HUMAN	I	544	ENSP00000393963:L544I	ENSP00000393963:L544I	L	+	1	2	KIFC1	33482044	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.125000	0.50469	1.363000	0.46019	0.558000	0.71614	CTA		0.642	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		57	85	1	0	4.96213e-28	1	6.03503e-28	57	85					A	33374066	C	A	33374066	3	1	455	1	0	0	0	0	1	0	0	0	8312	796	28	5	1660	5	KIFC1	6	33374066	Missense_Mutation	SNP	C	TCGA-YL-A8SA-01A-21D-A377-08		33374066	137741001	21	31082											
C6orf170	221322	broad.mit.edu	37	chr6	121642938	121642938	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaggtatttcacaaattcaTagctgaaacaaatatttaga	17	13	6	5	0	2	3	2	2	0	1	2	3	2	3	0	1	2	2	0	1	7	7			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr6:121642938T>A	ENST00000398212.2	-	2	207	c.158A>T	c.(157-159)tAt>tTt	p.Y53F	TBC1D32_ENST00000275159.6_Missense_Mutation_p.Y53F	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	53					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										CACAAATTCATAGCTGAAACA	0.318																																						ENST00000275159.6																			0											c.(157-159)tAt>tTt		TBC1 domain family, member 32							99	88	91					6																	121642938		1816	4086	5902	SO:0001583	missense	221322							g.chr6:121642938T>A	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.158A>T	6.37:g.121642938T>A	ENSP00000381270:p.Tyr53Phe					TBC1D32_ENST00000398212.2_Missense_Mutation_p.Y53F	p.Y53F							2	157	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.158A>T	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.766117	0.90020	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	T;T;T	0.25085	1.82;1.82;1.82	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	M	0.66939	2.045	0.47994	D	0.999566	D	0.71674	0.998	D	0.69142	0.962	T	0.39099	-0.9630	10	0.87932	D	0	-0.0318	15.6198	0.76796	0.0:0.0:0.0:1.0	.	53	Q96NH3	BROMI_HUMAN	F	53	ENSP00000275159:Y53F;ENSP00000381270:Y53F;ENSP00000397993:Y53F	ENSP00000275159:Y53F	Y	-	2	0	C6orf170	121684637	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.029000	0.76477	2.108000	0.64289	0.533000	0.62120	TAT		0.318	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		29	44	0	0	0	1	0	29	44					A	121642938	T	A	121642938	3	1	455	1	0	0	0	0	1	0	0	0	2344	1406	49	5	3739	5	C6orf170	6	121642938	Missense_Mutation	SNP	T	TCGA-YL-A8SA-01A-21D-A377-08	88268872	121642938	49472129	22	31083											
BMPER	168667	broad.mit.edu	37	chr7	34192862	34192862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaagggaaggtgcatcaagCcagtcctttgtccccagcgg	10	7	12	12	1	1	0	1	0	0	0	3	1	3	1	4	3	3	1	4	3	3	1			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr7:34192862C>A	ENST00000297161.2	+	16	2409	c.2035C>A	c.(2035-2037)Cca>Aca	p.P679T	BMPER_ENST00000426693.1_Missense_Mutation_p.P679T	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	679	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTGCATCAAGCCAGTCCTTTG	0.507																																						ENST00000297161.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2035-2037)Cca>Aca		BMP binding endothelial regulator							144	113	124					7																	34192862		2203	4300	6503	SO:0001583	missense	168667				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		g.chr7:34192862C>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.2035C>A	7.37:g.34192862C>A	ENSP00000297161:p.Pro679Thr					BMPER_ENST00000426693.1_Missense_Mutation_p.P679T	p.P679T	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN			16	2409	+			679			TIL.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.2035C>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869224	0.91587	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.79845	-1.31;-1.31	6.03	6.03	0.97812	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.000000	0.85682	D	0.000000	D	0.89928	0.6857	M	0.83852	2.665	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.85387	0.1123	10	0.13470	T	0.59	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	679	Q8N8U9	BMPER_HUMAN	T	679	ENSP00000297161:P679T;ENSP00000393950:P679T	ENSP00000297161:P679T	P	+	1	0	BMPER	34159387	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.868000	0.98415	0.557000	0.71058	CCA		0.507	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		18	37	1	0	1.67942e-08	1	1.84326e-08	18	37					A	34192862	C	A	34192862	3	1	455	1	0	0	0	0	1	0	0	0	1468	739	26	5	2093	5	BMPER	7	34192862	Missense_Mutation	SNP	C	TCGA-YL-A8SA-01A-21D-A377-08		34192862	124945801	23	31084											
PTN	5764	broad.mit.edu	37	chr7	136936041	136936041	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgacagtcttctggcattcGgcattgtgcagggctcgctt	5	13	13	10	2	2	1	0	1	2	0	4	1	2	1	0	3	1	5	0	3	0	4			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr7:136936041G>A	ENST00000348225.2	-	4	814	c.387C>T	c.(385-387)gcC>gcT	p.A129A	PTN_ENST00000393083.2_Silent_p.A129A	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	129					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TCTGGCATTCGGCATTGTGCA	0.507																																						ENST00000348225.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(385-387)gcC>gcT		pleiotrophin							305	278	287					7																	136936041		2203	4300	6503	SO:0001819	synonymous_variant	5764				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	g.chr7:136936041G>A	M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"Endogenous ligands"	9630	protein-coding gene	gene with protein product	"heparin binding growth factor 8"	162095	"neurite growth-promoting factor 1"	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.387C>T	7.37:g.136936041G>A						PTN_ENST00000393083.2_Silent_p.A129A	p.A129A	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN			4	814	-			129					Q5U0B0|Q6ICQ5|Q9UCC6	Silent	SNP	ENST00000348225.2	37	c.387C>T	CCDS5844.1																																																																																				0.507	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825		61	104	0	0	0	1	0	61	104					A	136936041	G	A	136936041	2	1	455	1	0	0	0	0	0	0	0	1	12768	1103	39	2		2	PTN	7	136936041	Silent	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08	102743179	136936041	22202622	24	31085											
TJP2	9414	broad.mit.edu	37	chr9	71851082	71851082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtagacacactgtatgacgGcaagctgggcaactggctgg	10	7	15	9	1	0	2	0	1	0	1	0	2	0	2	0	5	2	6	0	5	4	2			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr9:71851082G>A	ENST00000377245.4	+	13	2127	c.1919G>A	c.(1918-1920)gGc>gAc	p.G640D	TJP2_ENST00000539225.1_Missense_Mutation_p.G671D|TJP2_ENST00000535702.1_Missense_Mutation_p.G644D|TJP2_ENST00000453658.2_Missense_Mutation_p.G617D|TJP2_ENST00000348208.4_Missense_Mutation_p.G640D|TJP2_ENST00000265384.7_Missense_Mutation_p.G640D	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	640	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CTGTATGACGGCAAGCTGGGC	0.502																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(1918-1920)gGc>gAc		tight junction protein 2							105	96	99					9																	71851082		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71851082G>A	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1919G>A	9.37:g.71851082G>A	ENSP00000366453:p.Gly640Asp					TJP2_ENST00000453658.2_Missense_Mutation_p.G617D|TJP2_ENST00000348208.4_Missense_Mutation_p.G640D|TJP2_ENST00000265384.7_Missense_Mutation_p.G640D|TJP2_ENST00000535702.1_Missense_Mutation_p.G644D|TJP2_ENST00000539225.1_Missense_Mutation_p.G671D	p.G640D	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			13	2127	+			640			SH3.		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.1919G>A	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035745	0.93630	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.16897	2.39;2.31;2.36;2.38;2.37;2.35	5.43	5.43	0.79202	Src homology-3 domain (3);Variant SH3 (1);	0.048996	0.85682	D	0.000000	T	0.44808	0.1311	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;1.0	T	0.35500	-0.9786	10	0.87932	D	0	.	19.589	0.95499	0.0:0.0:1.0:0.0	.	671;644;640;640;640	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	D	617;640;640;640;644;671	ENSP00000392178:G617D;ENSP00000366453:G640D;ENSP00000345893:G640D;ENSP00000265384:G640D;ENSP00000442090:G644D;ENSP00000438262:G671D	ENSP00000265384:G640D	G	+	2	0	TJP2	71040902	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.678000	0.98647	2.709000	0.92574	0.491000	0.48974	GGC		0.502	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		3	44	0	0	0	1	0	3	44					A	71851082	G	A	71851082	3	1	455	1	0	0	0	0	1	0	0	0	15927	1203	42	3	2126	3	TJP2	9	71851082	Missense_Mutation	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08		71851082	69362349	25	31086											
RMI1	80010	broad.mit.edu	37	chr9	86616312	86616312	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttcacgaatgttgatgctGcagctaactgatggaatcgt	10	12	10	9	2	1	2	1	2	0	0	2	4	1	3	1	1	4	4	1	1	3	3			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr9:86616312G>T	ENST00000325875.3	+	3	743	c.411G>T	c.(409-411)ctG>ctT	p.L137L		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	137					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TGTTGATGCTGCAGCTAACTG	0.388																																						ENST00000325875.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(409-411)ctG>ctT		RecQ mediated genome instability 1							83	71	75					9																	86616312		2203	4300	6503	SO:0001819	synonymous_variant	80010				DNA replication	nucleus		g.chr9:86616312G>T	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"BLM-Associated Polypeptide, 75 kDa"	610404	"chromosome 9 open reading frame 76", "RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.411G>T	9.37:g.86616312G>T							p.L137L	NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN			3	743	+			137					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Silent	SNP	ENST00000325875.3	37	c.411G>T	CCDS6669.1																																																																																				0.388	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		24	30	1	0	2.89027e-11	1	3.25155e-11	24	30					T	86616312	G	T	86616312	2	4	455	1	0	0	0	0	0	0	0	1	13395	1306	46	5		5	RMI1	9	86616312	Silent	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08	14765230	86616312	54597119	26	31087											
FAM75C1	441452	broad.mit.edu	37	chr9	90535986	90535986	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagtagcttgccctgcgtcGcagaataaagtgcaagctct	10	9	12	10	2	1	1	0	0	1	1	2	2	1	2	1	1	5	5	1	1	5	3			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr9:90535986G>A	ENST00000602681.1	+	0	1890							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCCCTGCGTCGCAGAATAAAG	0.517																																						ENST00000602681.1																			0																				20	17	18					9																	90535986		692	1591	2283			0							g.chr9:90535986G>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535986G>A														0	1890	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.517	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		7	174	0	0	0	1	0	7	174					A	90535986	G	A	90535986	1	1	455	0	1	0	0	0	0	0	0	0	5623	1074	38	1		1	FAM75C1	9	90535986	RNA	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08	3919674	90535986	50677445	27	31088											
SPTLC1	10558	broad.mit.edu	37	chr9	94843196	94843196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagaaaattaaatgaggCgaagtttatacattcttttc	15	14	6	6	1	1	2	0	1	1	1	3	3	2	2	1	1	1	1	1	1	8	7	rs143232538	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr9:94843196C>T	ENST00000262554.2	-	4	315	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	SPTLC1_ENST00000337841.4_Missense_Mutation_p.A104T|SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	104					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	TTAAATGAGGCGAAGTTTATA	0.383																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(310-312)Gcc>Acc		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	136	113	121		310,310	5	1	9	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPTLC1	NM_006415.2,NM_178324.1	58,58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	104/474,104/144	94843196	2,13004	2203	4300	6503	SO:0001583	missense	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94843196C>T	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.310G>A	9.37:g.94843196C>T	ENSP00000262554:p.Ala104Thr					SPTLC1_ENST00000337841.4_Missense_Mutation_p.A104T|SPTLC1_ENST00000482632.1_5'UTR	p.A104T	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN			4	315	-			104					A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	c.310G>A	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722997	0.89298	2.27E-4	1.16E-4	ENSG00000090054	ENST00000262554;ENST00000337841	D;D	0.96011	-2.82;-3.88	5.0	5.0	0.66597	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97851	0.9294	M	0.85462	2.755	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.998	D;D;D;D	0.74348	0.931;0.969;0.983;0.949	D	0.98423	1.0578	10	0.87932	D	0	-14.1005	18.4449	0.90680	0.0:1.0:0.0:0.0	.	104;104;99;104	Q6NUL7;Q96IX6;Q59EQ4;O15269	.;.;.;SPTC1_HUMAN	T	104	ENSP00000262554:A104T;ENSP00000337635:A104T	ENSP00000262554:A104T	A	-	1	0	SPTLC1	93883017	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	5.648000	0.67930	2.759000	0.94783	0.557000	0.71058	GCC		0.383	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		14	32	0	0	0	1	0	14	32					T	94843196	C	T	94843196	3	4	455	1	0	0	0	0	1	0	0	0	15122	768	27	1	1168	1	SPTLC1	9	94843196	Missense_Mutation	SNP	C	TCGA-YL-A8SA-01A-21D-A377-08	4307210	94843196	46370235	28	31089											
GLT6D1	360203	broad.mit.edu	37	chr9	138518009	138518009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtcccttcccataggaCaggagcgagccagtctgttt	10	9	11	11	1	1	0	0	0	1	0	3	4	3	2	3	2	2	1	3	2	2	3	rs528087693	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr9:138518009C>T	ENST00000371763.1	-	4	416	c.163G>A	c.(163-165)Gtc>Atc	p.V55I		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	55					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TCCCATAGGACAGGAGCGAGC	0.527																																						ENST00000371763.1																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15						c.(163-165)Gtc>Atc		glycosyltransferase 6 domain containing 1							67	70	69					9																	138518009		1851	4083	5934	SO:0001583	missense	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138518009C>T	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"Glycosyltransferase family 6 domain containing"	23671	protein-coding gene	gene with protein product		613699	"galactosyltransferase family 6 domain containing 1"	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.163G>A	9.37:g.138518009C>T	ENSP00000360829:p.Val55Ile						p.V55I	NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	4	416	-		Myeloproliferative disorder(178;0.0821)	55						Missense_Mutation	SNP	ENST00000371763.1	37	c.163G>A	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.303201	0.00240	.	.	ENSG00000204007	ENST00000371763	T	0.01126	5.3	4.18	-2.63	0.06133	.	0.705821	0.12759	N	0.441524	T	0.00666	0.0022	N	0.11000	0.08	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.44892	-0.9298	10	0.02654	T	1	-24.096	11.6905	0.51512	0.0:0.4861:0.0:0.5139	.	55	Q7Z4J2	GL6D1_HUMAN	I	55	ENSP00000360829:V55I	ENSP00000360829:V55I	V	-	1	0	GLT6D1	137657830	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.304000	0.08199	-1.049000	0.03234	-1.885000	0.00541	GTC		0.527	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		14	27	0	0	0	1	0	14	27					T	138518009	C	T	138518009	3	4	455	1	0	0	0	0	1	0	0	0	6468	478	17	3	675	3	GLT6D1	9	138518009	Missense_Mutation	SNP	C	TCGA-YL-A8SA-01A-21D-A377-08	43674813	138518009	2695422	29	31090											
SPDYC	387778	broad.mit.edu	37	chr11	64940198	64940198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcttggactcgggaccGgcgcccccaccatggtgggg	4	6	17	14	3	0	0	0	0	0	0	1	2	0	2	4	7	0	1	4	7	0	1			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr11:64940198G>A	ENST00000377185.2	+	6	642	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						ACTCGGGACCGGCGCCCCCAC	0.667																																						ENST00000377185.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						c.(559-561)cGg>cAg		speedy/RINGO cell cycle regulator family member C							40	43	42					11																	64940198		2201	4297	6498	SO:0001583	missense	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64940198G>A	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"Speedy homologs"	32681	protein-coding gene	gene with protein product		614030	"speedy homolog C (Xenopus laevis)"			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.560G>A	11.37:g.64940198G>A	ENSP00000366390:p.Arg187Gln						p.R187Q	NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN			6	642	+			187			Speedy/Ringo box; Required for CDK- binding (By similarity).			Missense_Mutation	SNP	ENST00000377185.2	37	c.560G>A	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036701	0.93630	.	.	ENSG00000204710	ENST00000377185	.	.	.	5.26	3.36	0.38483	.	0.000000	0.47455	D	0.000233	T	0.50990	0.1648	M	0.85777	2.775	0.27348	N	0.956325	D	0.57571	0.98	P	0.47981	0.563	T	0.52845	-0.8521	9	0.59425	D	0.04	.	8.7822	0.34798	0.1873:0.0:0.8127:0.0	.	187	Q5MJ68	SPDYC_HUMAN	Q	187	.	ENSP00000366390:R187Q	R	+	2	0	SPDYC	64696774	0.855000	0.29742	0.001000	0.08648	0.977000	0.68977	4.354000	0.59417	0.592000	0.29728	0.655000	0.94253	CGG		0.667	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		17	21	0	0	0	1	0	17	21					A	64940198	G	A	64940198	3	1	455	1	0	0	0	0	1	0	0	0	15027	1116	39	2	582	2	SPDYC	11	64940198	Missense_Mutation	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08		64940198	70066318	30	31091											
SNX32	254122	broad.mit.edu	37	chr11	65620244	65620244	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgcttcgagcgcctctcCgactccgccaagcaaggtga	9	6	10	16	5	1	1	0	1	1	0	4	3	2	1	4	1	3	2	4	1	3	1	rs144634991	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr11:65620244C>A	ENST00000308342.6	+	11	1481	c.1056C>A	c.(1054-1056)tcC>tcA	p.S352S		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	352					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		AGCGCCTCTCCGACTCCGCCA	0.701																																						ENST00000308342.6																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1054-1056)tcC>tcA		sorting nexin 32							27	31	29					11																	65620244		2199	4291	6490	SO:0001819	synonymous_variant	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65620244C>A	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"Sorting nexins"	26423	protein-coding gene	gene with protein product			"sorting nexin 6B"	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.1056C>A	11.37:g.65620244C>A							p.S352S	NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	11	1481	+			352					Q8IW53|Q96NG4	Silent	SNP	ENST00000308342.6	37	c.1056C>A	CCDS8113.2																																																																																				0.701	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		8	14	1	0	1.06961e-07	1	1.14601e-07	8	14					A	65620244	C	A	65620244	2	1	455	1	0	0	0	0	0	0	0	1	14902	639	23	5		5	SNX32	11	65620244	Silent	SNP	C	TCGA-YL-A8SA-01A-21D-A377-08	680046	65620244	69386272	31	31092											
PUS7L	83448	broad.mit.edu	37	chr12	44148985	44148996	+	In_Frame_Del	DEL	CAACGTGATCAT	CAACGTGATCAT	-																															ttttatagtgccatgaaatcCaacgtgatcattaaagaaac																								rs145711853|rs201700465	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr12:44148985_44148996delCAACGTGATCAT	ENST00000416848.2	-	2	541_552	c.53_64delATGATCACGTTG	c.(52-66)aatgatcacgttgga>aga	p.18_22NDHVG>R	PUS7L_ENST00000553166.1_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000344862.5_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_In_Frame_Del_p.18_22NDHVG>R	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	18					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			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)		CCATGAAATCCAACGTGATCATTAAAGAAACA	0.33																																						ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(52-66)aga>a		pseudouridylate synthase 7 homolog (S. cerevisiae)-like																																				SO:0001651	inframe_deletion	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148985_44148996delCAACGTGATCAT	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.53_64delATGATCACGTTG	12.37:g.44148985_44148996delCAACGTGATCAT	ENSP00000415899:p.Asn18_Gly22delinsArg					PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_In_Frame_Del_p.NDHVG18del|PUS7L_ENST00000551923.1_In_Frame_Del_p.NDHVG18del|PUS7L_ENST00000344862.5_In_Frame_Del_p.NDHVG18del	p.NDHVG18del	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	541_552	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	18					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	In_Frame_Del	DEL	ENST00000416848.2	37	c.53_64delATGATCACGTTG	CCDS8743.1																																																																																				0.33	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		10	17						10	17	---	---	---	---	-	44148996	CAACGTGATCAT	-	44148985	7	5	455	1	0	1	0	1	0	0	0	0	12834	603	21	0	2073	0	PUS7L	12	44148985	In_Frame_Del	DEL	CAACGTGATCAT	TCGA-YL-A8SA-01A-21D-A377-08		44148985	89702910	32	31093											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281496	49281496	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagtggctctgagcagaaCggcagtgtcacatcatgctt	10	9	12	10	1	3	2	2	1	1	1	3	3	3	2	0	2	3	4	0	2	1	1	rs141963167	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr13:49281496C>T	ENST00000282018.3	+	1	546	c.543C>T	c.(541-543)aaC>aaT	p.N181N		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	181					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CTGAGCAGAACGGCAGTGTCA	0.483													c|||	7	0.00139776	0.0053	0	5008	,	,		20753	0		0	False		,,,				2504	0					ENST00000282018.3																			0				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(541-543)aaC>aaT		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)	C		30,4376	35.2+/-66.4	0,30,2173	126	121	122		543	-5.7	0	13	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous	CYSLTR2	NM_020377.2		0,30,6473	TT,TC,CC		0.0,0.6809,0.2307		181/347	49281496	30,12976	2203	4300	6503	SO:0001819	synonymous_variant	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281496C>T	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"GPCR / Class A : Leukotriene receptors"	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.543C>T	13.37:g.49281496C>T							p.N181N	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	546	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	181					Q9HCQ2	Silent	SNP	ENST00000282018.3	37	c.543C>T	CCDS9412.1																																																																																				0.483	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			32	16	0	0	0	1	0	32	16					T	49281496	C	T	49281496	2	4	455	1	0	0	0	0	0	0	0	1	4202	535	19	1		1	CYSLTR2	13	49281496	Silent	SNP	C	TCGA-YL-A8SA-01A-21D-A377-08		49281496	65888382	33	31094											
CTAGE5	4253	broad.mit.edu	37	chr14	39769118	39769118	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagtgagtgaacttaataaAcagaaagtaacatttgaaga	20	9	8	4	0	0	5	0	3	0	2	0	5	0	5	0	0	3	1	0	0	8	4			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr14:39769118A>G	ENST00000280083.3	+	9	1037	c.723A>G	c.(721-723)aaA>aaG	p.K241K	CTAGE5_ENST00000341749.3_Silent_p.K229K|CTAGE5_ENST00000341502.5_Silent_p.K241K|CTAGE5_ENST00000396165.4_Silent_p.K212K|CTAGE5_ENST00000556148.1_Silent_p.K166K|CTAGE5_ENST00000348007.3_Silent_p.K241K|RP11-407N17.3_ENST00000603904.1_Silent_p.K212K|RP11-407N17.3_ENST00000553728.1_Silent_p.K776K|CTAGE5_ENST00000553352.1_Silent_p.K212K|CTAGE5_ENST00000557038.1_Silent_p.K161K|CTAGE5_ENST00000396158.2_Silent_p.K246K			O15320	CTGE5_HUMAN	CTAGE family, member 5	241					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AACTTAATAAACAGAAAGTAA	0.323																																						ENST00000553728.1																			0											c.(2326-2328)aaA>aaG									127	132	130					14																	39769118		2203	4297	6500	SO:0001819	synonymous_variant	0							g.chr14:39769118A>G	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.723A>G	14.37:g.39769118A>G						CTAGE5_ENST00000557038.1_Silent_p.K161K|CTAGE5_ENST00000396165.4_Silent_p.K212K|CTAGE5_ENST00000396158.2_Silent_p.K246K|CTAGE5_ENST00000341749.3_Silent_p.K229K|CTAGE5_ENST00000348007.3_Silent_p.K241K|CTAGE5_ENST00000556148.1_Silent_p.K166K|CTAGE5_ENST00000280083.3_Silent_p.K241K|CTAGE5_ENST00000553352.1_Silent_p.K212K|RP11-407N17.3_ENST00000603904.1_Silent_p.K212K|CTAGE5_ENST00000341502.5_Silent_p.K241K	p.K776K							13	2541	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	ENST00000280083.3	37	c.2328A>G	CCDS9674.1																																																																																				0.323	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		28	32	0	0	0	1	0	28	32					G	39769118	A	G	39769118	2	3	455	1	0	0	0	0	0	0	0	1	3994	40	2	4		4	CTAGE5	14	39769118	Silent	SNP	A	TCGA-YL-A8SA-01A-21D-A377-08		39769118	67580422	34	31095											
TRIM9	114088	broad.mit.edu	37	chr14	51560842	51560842	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttaggactcaccttatgTagtttccacatggcccccag	8	13	7	13	0	2	0	1	0	1	0	3	1	3	1	4	2	0	2	4	2	3	5			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr14:51560842T>A	ENST00000298355.3	-	1	1937	c.816A>T	c.(814-816)ctA>ctT	p.L272L	TRIM9_ENST00000338969.5_Silent_p.L272L|TRIM9_ENST00000360392.4_Silent_p.L272L|RP11-1140I5.1_ENST00000554475.1_RNA	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	272					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			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)					TCACCTTATGTAGTTTCCACA	0.567																																						ENST00000298355.3																			0				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						c.(814-816)ctA>ctT		tripartite motif containing 9							153	131	139					14																	51560842		2203	4300	6503	SO:0001819	synonymous_variant	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51560842T>A	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.816A>T	14.37:g.51560842T>A						TRIM9_ENST00000338969.5_Silent_p.L272L|TRIM9_ENST00000360392.4_Silent_p.L272L	p.L272L	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN			1	1937	-	all_epithelial(31;0.00418)|Breast(41;0.148)		272					D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Silent	SNP	ENST00000298355.3	37	c.816A>T	CCDS9703.1																																																																																				0.567	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		20	31	0	0	0	1	0	20	31					A	51560842	T	A	51560842	2	1	455	1	0	0	0	0	0	0	0	1	16546	1625	57	5		5	TRIM9	14	51560842	Silent	SNP	T	TCGA-YL-A8SA-01A-21D-A377-08	11791724	51560842	55788698	35	31096											
EFCAB5	374786	broad.mit.edu	37	chr17	28434998	28434998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccctccaagactgacaatTatatgtatgcaaaaatgcca	15	10	6	10	0	0	2	0	1	0	1	1	2	1	2	3	0	3	2	3	0	7	3			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr17:28434998T>C	ENST00000394835.3	+	23	4660	c.4468T>C	c.(4468-4470)Tat>Cat	p.Y1490H	EFCAB5_ENST00000320856.5_Missense_Mutation_p.Y1366H|EFCAB5_ENST00000394832.2_Missense_Mutation_p.Y962H|RP11-1148O4.2_ENST00000582938.1_RNA	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1490							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACTGACAATTATATGTATGC	0.373																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(4468-4470)Tat>Cat		EF-hand calcium binding domain 5							159	147	151					17																	28434998		1869	4110	5979	SO:0001583	missense	374786						calcium ion binding	g.chr17:28434998T>C	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.4468T>C	17.37:g.28434998T>C	ENSP00000378312:p.Tyr1490His					EFCAB5_ENST00000394832.2_Missense_Mutation_p.Y962H|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000320856.5_Missense_Mutation_p.Y1366H	p.Y1490H	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			23	4660	+			1490					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.4468T>C	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	T	9.989	1.230197	0.22542	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000394832;ENST00000419434	T;T;T;T	0.18338	2.93;2.94;2.22;2.95	3.62	-1.43	0.08884	.	2.405150	0.01464	N	0.015983	T	0.13670	0.0331	L	0.36672	1.1	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.14023	0.01;0.01;0.01	T	0.28170	-1.0052	10	0.52906	T	0.07	6.5629	2.463	0.04546	0.3426:0.216:0.0:0.4414	.	962;1366;1490	B5MEA3;E7EVS9;A4FU69	.;.;EFCB5_HUMAN	H	1490;1366;962;1172	ENSP00000378312:Y1490H;ENSP00000322003:Y1366H;ENSP00000378309:Y962H;ENSP00000417009:Y1172H	ENSP00000322003:Y1366H	Y	+	1	0	EFCAB5	25459124	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.090000	0.11163	-0.341000	0.08376	0.533000	0.62120	TAT		0.373	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		34	51	0	0	0	1	0	34	51					C	28434998	T	C	28434998	3	2	455	1	0	0	0	0	1	0	0	0	4938	1754	61	4	4725	4	EFCAB5	17	28434998	Missense_Mutation	SNP	T	TCGA-YL-A8SA-01A-21D-A377-08		28434998	52760212	36	31097											
FBN3	84467	broad.mit.edu	37	chr19	8153043	8153043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgcccacaggggtggcCgacagagcactcgtctgtgt	6	8	13	14	2	1	1	0	0	1	1	2	2	1	1	3	3	2	1	3	3	0	1	rs138232748	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr19:8153043C>T	ENST00000600128.1	-	52	6811	c.6397G>A	c.(6397-6399)Ggc>Agc	p.G2133S	FBN3_ENST00000601739.1_Missense_Mutation_p.G2133S|FBN3_ENST00000270509.2_Missense_Mutation_p.G2133S			Q75N90	FBN3_HUMAN	fibrillin 3	2133	EGF-like 34; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G2133S(1)		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						CAGGGGTGGCCGACAGAGCAC	0.612													C|||	2	0.000399361	8e-04	0	5008	,	,		20255	0.001		0	False		,,,				2504	0					ENST00000600128.1																			1	Substitution - Missense(1)	p.G2133S(1)	large_intestine(1)	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						c.(6397-6399)Ggc>Agc		fibrillin 3		C	SER/GLY	0,4406		0,0,2203	99	83	89		6397	3	0	19	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FBN3	NM_032447.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2133/2810	8153043	1,13005	2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8153043C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6397G>A	19.37:g.8153043C>T	ENSP00000470498:p.Gly2133Ser					FBN3_ENST00000270509.2_Missense_Mutation_p.G2133S|FBN3_ENST00000601739.1_Missense_Mutation_p.G2133S	p.G2133S			Q75N90	FBN3_HUMAN			52	6811	-			2133			EGF-like 34; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.6397G>A	CCDS12196.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	16.36	3.100602	0.56183	0.0	1.16E-4	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.92911	-3.13	4.03	2.98	0.34508	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.061014	0.64402	U	0.000004	D	0.90000	0.6878	N	0.11698	0.16	0.54753	D	0.999982	D	0.89917	1.0	D	0.87578	0.998	D	0.87153	0.2210	10	0.32370	T	0.25	.	9.92	0.41459	0.0:0.8242:0.0:0.1758	.	2133	Q75N90	FBN3_HUMAN	S	2133;239	ENSP00000270509:G2133S	ENSP00000270509:G2133S	G	-	1	0	FBN3	8059043	0.999000	0.42202	0.022000	0.16811	0.424000	0.31475	4.435000	0.59941	0.800000	0.34041	0.313000	0.20887	GGC		0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		3	48	0	0	0	1	0	3	48					T	8153043	C	T	8153043	3	4	455	1	0	0	0	0	1	0	0	0	5704	652	23	2	2084	2	FBN3	19	8153043	Missense_Mutation	SNP	C	TCGA-YL-A8SA-01A-21D-A377-08		8153043	50975940	37	31098											
MUC16	94025	broad.mit.edu	37	chr19	9087741	9087741	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtaagcagctggggtggcGgactctgtctttggatggtt	6	12	17	6	1	2	0	0	0	2	0	2	3	2	2	0	6	2	4	0	6	1	3	rs146223906	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr19:9087741G>A	ENST00000397910.4	-	1	4277	c.4074C>T	c.(4072-4074)tcC>tcT	p.S1358S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1358	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S1358S(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGGGTGGCGGACTCTGTCT	0.502													G|||	5	0.000998403	0.0023	0.0014	5008	,	,		21383	0.001		0	False		,,,				2504	0					ENST00000397910.4																			2	Substitution - coding silent(2)	p.S1358S(2)	endometrium(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(4072-4074)tcC>tcT		mucin 16, cell surface associated		G		3,4395	4.2+/-10.8	0,3,2196	180	183	182		4074	-0.7	0	19	dbSNP_134	182	0,8598		0,0,4299	no	coding-synonymous	MUC16	NM_024690.2		0,3,6495	AA,AG,GG		0.0,0.0682,0.0231		1358/14508	9087741	3,12993	2199	4299	6498	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087741G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4074C>T	19.37:g.9087741G>A							p.S1358S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	4277	-			1358			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.4074C>T	CCDS54212.1																																																																																				0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		19	26	0	0	0	1	0	19	26					A	9087741	G	A	9087741	2	1	455	1	0	0	0	0	0	0	0	1	9973	1103	39	2		2	MUC16	19	9087741	Silent	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08	934698	9087741	50041242	38	31099											
SYCE2	256126	broad.mit.edu	37	chr19	13029100	13029100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgcggatgctccttgctctCccccaagggctgcggttcct	3	10	11	17	3	1	0	0	0	1	0	4	1	3	1	5	3	3	4	5	3	1	2			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr19:13029100C>T	ENST00000293695.7	-	2	85	c.67G>A	c.(67-69)Gag>Aag	p.E23K	MIR5695_ENST00000579717.1_RNA	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	23					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TCCTTGCTCTCCCCCAAGGGC	0.607																																						ENST00000293695.7																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						c.(67-69)Gag>Aag		synaptonemal complex central element protein 2							82	89	86					19																	13029100		2114	4223	6337	SO:0001583	missense	256126				cell division	central element		g.chr19:13029100C>T	AK097443	CCDS42509.1	19p13.13	2008-02-05				ENSG00000161860			27411	protein-coding gene	gene with protein product	"central element synaptonemal complex 1"	611487				15944401	Standard	NM_001105578		Approved	CESC1	uc002mvr.2	Q6PIF2		ENST00000293695.7:c.67G>A	19.37:g.13029100C>T	ENSP00000293695:p.Glu23Lys						p.E23K	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN			2	85	-			23					B4DYD3	Missense_Mutation	SNP	ENST00000293695.7	37	c.67G>A	CCDS42509.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096615	0.36952	.	.	ENSG00000161860	ENST00000293695	.	.	.	3.31	1.17	0.20885	.	1.029480	0.07797	N	0.955892	T	0.27559	0.0677	L	0.47716	1.5	0.09310	N	1	P	0.36535	0.557	B	0.30646	0.118	T	0.26573	-1.0099	9	0.72032	D	0.01	-0.3733	5.088	0.14693	0.0:0.7218:0.0:0.2782	.	23	Q6PIF2	SYCE2_HUMAN	K	23	.	ENSP00000293695:E23K	E	-	1	0	SYCE2	12890100	0.005000	0.15991	0.004000	0.12327	0.096000	0.18686	1.030000	0.30153	0.409000	0.25649	0.561000	0.74099	GAG		0.607	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451913.1	XM_497609		10	35	0	0	0	1	0	10	35					T	13029100	C	T	13029100	3	4	455	1	0	0	0	0	1	0	0	0	15426	864	30	3	609	3	SYCE2	19	13029100	Missense_Mutation	SNP	C	TCGA-YL-A8SA-01A-21D-A377-08	3941359	13029100	46099883	39	31100											
ZNF737	100129842	broad.mit.edu	37	chr19	20728085	20728085	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catttgtagggtttctctccGctatgaattatcttatgcgc	7	17	8	9	2	2	1	0	1	2	0	4	1	3	1	1	1	1	3	1	1	5	6			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr19:20728085G>A	ENST00000427401.4	-	4	1018	c.924C>T	c.(922-924)agC>agT	p.S308S		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GTTTCTCTCCGCTATGAATTA	0.408																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(922-924)agC>agT		zinc finger protein 737							42	42	42					19																	20728085		692	1591	2283	SO:0001819	synonymous_variant	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728085G>A	BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.924C>T	19.37:g.20728085G>A							p.S308S	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	1018	-			308					C9JHM3	Silent	SNP	ENST00000427401.4	37	c.924C>T	CCDS54238.1																																																																																				0.408	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		15	28	0	0	0	1	0	15	28					A	20728085	G	A	20728085	2	1	455	1	0	0	0	0	0	0	0	1	18123	1078	38	1		1	ZNF737	19	20728085	Silent	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08	7698985	20728085	38400898	40	31101											
ZNF99	7652	broad.mit.edu	37	chr19	22942458	22942458	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgctctgatctggccaaaAgtcttgtgtaaaatgagaac	13	12	9	7	0	3	2	0	2	3	1	3	3	3	2	1	1	2	2	1	1	6	3			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr19:22942458A>T	ENST00000596209.1	-	4	343	c.253T>A	c.(253-255)Ttt>Att	p.F85I	ZNF99_ENST00000397104.3_Missense_Mutation_p.F106I	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTGGCCAAAAGTCTTGTGTA	0.289																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(316-318)Ttt>Att		zinc finger protein 99							45	40	42					19																	22942458		1821	4094	5915	SO:0001583	missense	7652							g.chr19:22942458A>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.253T>A	19.37:g.22942458A>T	ENSP00000472969:p.Phe85Ile					ZNF99_ENST00000596209.1_Missense_Mutation_p.F85I	p.F106I							4	315	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.316T>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.040	-1.289906	0.01387	.	.	ENSG00000213973	ENST00000397104	T	0.05855	3.38	0.937	-0.922	0.10468	.	.	.	.	.	T	0.02727	0.0082	N	0.05510	-0.035	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.46748	-0.9169	9	0.20519	T	0.43	.	3.9849	0.09511	0.7219:0.0:0.2781:0.0	.	106	A8MXY4	ZNF99_HUMAN	I	106	ENSP00000380293:F106I	ENSP00000380293:F106I	F	-	1	0	ZNF99	22734298	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-3.039000	0.00633	-1.290000	0.02372	-1.304000	0.01323	TTT		0.289	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		6	7	0	0	0	1	0	6	7					T	22942458	A	T	22942458	3	4	455	1	0	0	0	0	1	0	0	0	18201	72	3	5	2812	5	ZNF99	19	22942458	Missense_Mutation	SNP	A	TCGA-YL-A8SA-01A-21D-A377-08	2214373	22942458	36186525	41	31102											
ARHGAP36	158763	broad.mit.edu	37	chrX	130217750	130217750	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattagcctggaagaggtccTggtgaacgagtttacccgcc	9	9	12	11	2	0	2	0	1	0	1	1	4	1	3	4	3	3	1	4	3	4	3			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chrX:130217750T>A	ENST00000276211.5	+	4	707	c.362T>A	c.(361-363)cTg>cAg	p.L121Q	ARHGAP36_ENST00000370921.1_5'UTR|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L109Q	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	121					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GAAGAGGTCCTGGTGAACGAG	0.552																																						ENST00000276211.5																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(361-363)cTg>cAg		Rho GTPase activating protein 36							132	126	128					X																	130217750		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130217750T>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.362T>A	X.37:g.130217750T>A	ENSP00000276211:p.Leu121Gln					ARHGAP36_ENST00000370921.1_5'UTR|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L109Q	p.L121Q	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			4	707	+			121					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.362T>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.138823	0.37728	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.14144	2.53;2.54;2.57	4.3	4.3	0.51218	Rho GTPase-activating protein domain (1);	0.240961	0.22239	N	0.062704	T	0.20292	0.0488	N	0.19112	0.55	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.995	D;D;D	0.87578	0.994;0.998;0.986	T	0.02385	-1.1167	10	0.72032	D	0.01	.	8.818	0.35007	0.0:0.0:0.0:1.0	.	90;109;121	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	Q	121;109;73;90	ENSP00000276211:L121Q;ENSP00000359960:L109Q;ENSP00000408515:L90Q	ENSP00000276211:L121Q	L	+	2	0	ARHGAP36	130045431	1.000000	0.71417	0.913000	0.36048	0.023000	0.10783	3.028000	0.49705	1.903000	0.55091	0.486000	0.48141	CTG		0.552	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		54	19	0	0	0	1	0	54	19					A	130217750	T	A	130217750	3	1	455	1	0	0	0	0	1	0	0	0	883	1580	55	5	372	5	ARHGAP36	23	130217750	Missense_Mutation	SNP	T	TCGA-YL-A8SA-01A-21D-A377-08		130217750	25052810	42	31103											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809302	18809302	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcgttacgacccccgcctGgaccgctgggactttgcccc	5	7	12	17	4	0	0	0	0	0	0	0	4	0	2	6	2	3	2	6	2	1	2			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:18809302G>C	ENST00000400664.1	+	1	1879	c.1827G>C	c.(1825-1827)ctG>ctC	p.L609L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	609						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCCGCCTGGACCGCTGGG	0.701																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1825-1827)ctG>ctC		kelch domain containing 7A							23	24	24					1																	18809302		2202	4295	6497	SO:0001819	synonymous_variant	127707					integral to membrane		g.chr1:18809302G>C	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1827G>C	1.37:g.18809302G>C							p.L609L	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		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)	1	1879	+		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)	609					Q8N8W6	Silent	SNP	ENST00000400664.1	37	c.1827G>C	CCDS185.2																																																																																				0.701	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		5	11	0	0	0	1	0	5	11					C	18809302	G	C	18809302	2	2	456	1	0	0	0	0	0	0	0	1	8360	1335	47	5		5	KLHDC7A	1	18809302	Silent	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08		18809302	230441319	1	31104											
MOBKL2C	148932	broad.mit.edu	37	chr1	47075780	47075780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccccatgctgaggatgCtatcgaagtggtggatgtag	8	10	14	9	1	0	1	0	1	0	0	1	4	0	3	2	3	3	3	2	3	3	2			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:47075780C>T	ENST00000319928.3	-	3	745	c.515G>A	c.(514-516)aGc>aAc	p.S172N	MOB3C_ENST00000271139.8_Missense_Mutation_p.S224N|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000371940.1_Missense_Mutation_p.S195N|MOB3C_ENST00000477318.1_5'UTR	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	172							metal ion binding (GO:0046872)										GCTGAGGATGCTATCGAAGTG	0.557																																						ENST00000371940.1																			0											c.(583-585)aGc>aAc		MOB kinase activator 3C							136	127	130					1																	47075780		2203	4300	6503	SO:0001583	missense	148932						metal ion binding	g.chr1:47075780C>T	AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"MOB kinase activators"	29800	protein-coding gene	gene with protein product			"MOB1, Mps One Binder kinase activator-like 2C (yeast)"	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.515G>A	1.37:g.47075780C>T	ENSP00000315113:p.Ser172Asn					MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000319928.3_Missense_Mutation_p.S172N|MOB3C_ENST00000271139.8_Missense_Mutation_p.S224N	p.S195N			Q70IA8	MOL2C_HUMAN			2	3658	-			172					D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	ENST00000319928.3	37	c.584G>A	CCDS540.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516237	0.64634	.	.	ENSG00000142961	ENST00000319928;ENST00000271139;ENST00000371940	.	.	.	5.19	5.19	0.71726	.	0.217239	0.56097	D	0.000034	T	0.42131	0.1189	N	0.19112	0.55	0.47621	D	0.999473	B	0.02656	0.0	B	0.11329	0.006	T	0.23833	-1.0177	9	0.25106	T	0.35	-37.89	13.7558	0.62935	0.0:0.8461:0.1539:0.0	.	172	Q70IA8	MOB3C_HUMAN	N	172;224;195	.	ENSP00000271139:S224N	S	-	2	0	MOBKL2C	46848367	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.733000	0.62036	2.571000	0.86741	0.561000	0.74099	AGC		0.557	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145279		4	95	0	0	0	1	0	4	95					T	47075780	C	T	47075780	3	4	456	1	0	0	0	0	1	0	0	0	9686	797	28	3	143	3	MOBKL2C	1	47075780	Missense_Mutation	SNP	C	TCGA-YL-A8SB-01A-31D-A377-08	28266478	47075780	202174841	2	31105											
KCNC4	3749	broad.mit.edu	37	chr1	110774894	110774894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcacctgaggctgcatGccctccaactgctgggactc	7	9	10	15	0	1	1	1	1	0	0	3	2	2	2	3	2	4	4	3	2	1	1			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:110774894G>T	ENST00000369787.3	+	4	1898	c.1871G>T	c.(1870-1872)tGc>tTc	p.C624F	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Intron|KCNC4_ENST00000438661.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	624					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			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)		GAGGCTGCATGCCCTCCAACT	0.547																																						ENST00000369787.3																			0				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						c.(1870-1872)tGc>tTc		potassium voltage-gated channel, Shaw-related subfamily, member 4							92	68	76					1																	110774894		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110774894G>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1871G>T	1.37:g.110774894G>T	ENSP00000358802:p.Cys624Phe					KCNC4_ENST00000413138.3_Intron|KCNC4_ENST00000438661.2_Intron|KCNC4_ENST00000412512.2_Intron	p.C624F	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		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)	4	1898	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	624					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.1871G>T	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292140	0.40594	.	.	ENSG00000116396	ENST00000369787	D	0.97688	-4.49	2.21	-0.923	0.10465	.	7739.210000	0.00166	N	0.000000	D	0.85767	0.5773	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	D	0.83929	0.0305	10	0.41790	T	0.15	.	5.019	0.14352	0.5194:0.0:0.4806:0.0	.	624	Q03721	KCNC4_HUMAN	F	624	ENSP00000358802:C624F	ENSP00000358802:C624F	C	+	2	0	KCNC4	110576417	0.000000	0.05858	0.000000	0.03702	0.991000	0.79684	0.290000	0.18975	-0.246000	0.09611	0.655000	0.94253	TGC		0.547	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		3	11	1	0	0.115264	1	0.117322	3	11					T	110774894	G	T	110774894	3	4	456	1	0	0	0	0	1	0	0	0	8017	1319	46	5	2019	5	KCNC4	1	110774894	Missense_Mutation	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08	63699114	110774894	138475727	3	31106											
KCNK2	3776	broad.mit.edu	37	chr1	215342562	215342562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttggaaacatctcaccaCgcacagaaggcggcaaaata	16	6	9	10	2	1	1	1	0	1	1	2	3	1	2	1	3	1	2	1	3	5	2	rs576428312		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:215342562C>T	ENST00000444842.2	+	4	646	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	KCNK2_ENST00000391894.2_Missense_Mutation_p.R151C|KCNK2_ENST00000391895.2_Missense_Mutation_p.R162C	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	166					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CATCTCACCACGCACAGAAGG	0.368													C|||	1	0.000199681	0	0	5008	,	,		13577	0		0.001	False		,,,				2504	0					ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(496-498)Cgc>Tgc		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						131	135	134					1																	215342562		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215342562C>T	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.496C>T	1.37:g.215342562C>T	ENSP00000394033:p.Arg166Cys					KCNK2_ENST00000391895.2_Missense_Mutation_p.R162C|KCNK2_ENST00000391894.2_Missense_Mutation_p.R151C	p.R166C	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	4	646	+			166					A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.496C>T	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	C	32	5.183862	0.94885	.	.	ENSG00000082482	ENST00000391895;ENST00000478774;ENST00000391894;ENST00000444842;ENST00000457122	T;T;T;T;T	0.31769	1.82;1.48;1.82;1.82;1.82	6.16	6.16	0.99307	Ion transport 2 (1);	0.043217	0.85682	D	0.000000	T	0.60521	0.2275	M	0.82716	2.605	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.64042	0.886;0.892;0.921	T	0.59994	-0.7349	10	0.54805	T	0.06	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	151;166;162	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	C	162;110;151;166;110	ENSP00000375765:R162C;ENSP00000420569:R110C;ENSP00000375764:R151C;ENSP00000394033:R166C;ENSP00000413460:R110C	ENSP00000375764:R151C	R	+	1	0	KCNK2	213409185	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.779000	0.68948	2.937000	0.99478	0.650000	0.86243	CGC		0.368	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		21	74	0	0	0	1	0	21	74					T	215342562	C	T	215342562	3	4	456	1	0	0	0	0	1	0	0	0	8066	536	19	1	553	1	KCNK2	1	215342562	Missense_Mutation	SNP	C	TCGA-YL-A8SB-01A-31D-A377-08	104567668	215342562	33908059	4	31107											
PGAP1	80055	broad.mit.edu	37	chr2	197791205	197791205	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaccttacctgatactccgGgtactcaaacatgtagctca	12	10	7	12	1	2	1	2	1	0	0	3	2	3	1	3	1	6	3	3	1	6	4			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr2:197791205G>C	ENST00000354764.4	-	1	250	c.136C>G	c.(136-138)Ccg>Gcg	p.P46A	PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000409475.1_Missense_Mutation_p.P46A	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	46					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TGATACTCCGGGTACTCAAAC	0.542																																						ENST00000354764.3																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(136-138)Ccg>Gcg		post-GPI attachment to proteins 1							194	213	207					2																	197791205		2203	4300	6503	SO:0001583	missense	80055				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	g.chr2:197791205G>C		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.136C>G	2.37:g.197791205G>C	ENSP00000346809:p.Pro46Ala					PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000409475.1_Missense_Mutation_p.P46A	p.P46A	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			1	250	-			46					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	c.136C>G	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404371	0.62288	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000374738	.	.	.	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.75759	0.3893	M	0.69358	2.11	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.911;0.991	T	0.78969	-0.1994	9	0.87932	D	0	-6.2175	13.2964	0.60298	0.0:0.0:1.0:0.0	.	46;46	Q75T13-3;Q75T13	.;PGAP1_HUMAN	A	46	.	ENSP00000346809:P46A	P	-	1	0	PGAP1	197499450	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.894000	0.87336	2.158000	0.67659	0.313000	0.20887	CCG		0.542	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		7	212	0	0	0	1	0	7	212					C	197791205	G	C	197791205	3	2	456	1	0	0	0	0	1	0	0	0	11777	1232	43	5	2740	5	PGAP1	2	197791205	Missense_Mutation	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08		197791205	45408168	5	31108											
AOX1	316	broad.mit.edu	37	chr2	201499584	201499584	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttgtcgttcccaagggAgaggatcaagaaatggatgt	12	10	13	6	1	1	2	1	0	0	2	3	5	2	4	1	3	1	2	1	3	3	2			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr2:201499584A>G	ENST00000374700.2	+	21	2533	c.2292A>G	c.(2290-2292)ggA>ggG	p.G764G	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	764					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			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					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTCCCAAGGGAGAGGATCAAG	0.413																																						ENST00000374700.2																			0				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						c.(2290-2292)ggA>ggG		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						120	117	118					2																	201499584		2203	4300	6503	SO:0001819	synonymous_variant	316				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	g.chr2:201499584A>G	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2292A>G	2.37:g.201499584A>G						AOX1_ENST00000485106.1_3'UTR	p.G764G	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			21	2533	+			764					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.2292A>G	CCDS33360.1																																																																																				0.413	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		3	51	0	0	0	1	0	3	51					G	201499584	A	G	201499584	2	3	456	1	0	0	0	0	0	0	0	1	729	291	11	4		4	AOX1	2	201499584	Silent	SNP	A	TCGA-YL-A8SB-01A-31D-A377-08	3708379	201499584	41699789	6	31109											
CFLAR	8837	broad.mit.edu	37	chr2	202025331	202025331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccagagtgtgtatggtGtggatcagactcactcaggg	8	10	14	9	0	3	2	3	0	0	2	4	3	4	3	1	3	0	2	1	3	1	1			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr2:202025331G>A	ENST00000309955.3	+	9	1485	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	CFLAR_ENST00000340870.5_Missense_Mutation_p.V324M|CFLAR_ENST00000443227.1_Missense_Mutation_p.V228M|CFLAR_ENST00000341582.6_Missense_Mutation_p.V289M|CFLAR_ENST00000457277.1_Missense_Mutation_p.V324M|CFLAR_ENST00000479953.2_Missense_Mutation_p.V228M|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000423241.2_Missense_Mutation_p.V324M	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	324	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TGTGTATGGTGTGGATCAGAC	0.522																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000309955.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(970-972)Gtg>Atg		CASP8 and FADD-like apoptosis regulator							147	130	136					2																	202025331		2203	4300	6503	SO:0001583	missense	8837				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	g.chr2:202025331G>A	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"Endogenous ligands"	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.970G>A	2.37:g.202025331G>A	ENSP00000312455:p.Val324Met					CFLAR_ENST00000479953.2_Missense_Mutation_p.V228M|CFLAR_ENST00000341582.6_Missense_Mutation_p.V289M|CFLAR_ENST00000457277.1_Missense_Mutation_p.V324M|CFLAR_ENST00000423241.2_Missense_Mutation_p.V324M|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000340870.5_Missense_Mutation_p.V324M|CFLAR_ENST00000443227.1_Missense_Mutation_p.V228M	p.V324M	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN			9	1485	+			324			Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	c.970G>A	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588551	0.28357	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000423241;ENST00000457277	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	5.62	1.66	0.24008	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.603736	0.17573	N	0.169415	T	0.38639	0.1048	M	0.79475	2.455	0.09310	N	1	D;D;D;D	0.69078	0.961;0.997;0.967;0.994	D;D;P;D	0.67900	0.929;0.954;0.859;0.954	T	0.12344	-1.0551	10	0.56958	D	0.05	-3.1191	4.7893	0.13241	0.3955:0.0:0.4648:0.1397	.	228;324;289;324	O15519-3;O15519-11;O15519-8;O15519	.;.;.;CFLAR_HUMAN	M	324;228;324;210;289;324;324	ENSP00000312455:V324M;ENSP00000413270:V228M;ENSP00000339326:V324M;ENSP00000345807:V289M;ENSP00000399420:V324M;ENSP00000411535:V324M	ENSP00000312455:V324M	V	+	1	0	CFLAR	201733576	0.006000	0.16342	0.065000	0.19835	0.006000	0.05464	0.619000	0.24388	0.287000	0.22375	-0.324000	0.08512	GTG		0.522	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		14	75	0	0	0	1	0	14	75					A	202025331	G	A	202025331	3	1	456	1	0	0	0	0	1	0	0	0	3292	1377	48	3	1064	3	CFLAR	2	202025331	Missense_Mutation	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08	525747	202025331	41174042	7	31110											
PFKFB4	5210	broad.mit.edu	37	chr3	48573816	48573816	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcatgaggtaatatacgAtgcggctctggatgtggtca	9	13	13	6	2	3	1	2	1	1	0	3	3	3	2	0	4	2	3	0	4	3	4			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr3:48573816A>G	ENST00000232375.3	-	8	825	c.713T>C	c.(712-714)aTc>aCc	p.I238T	PFKFB4_ENST00000416568.1_Missense_Mutation_p.I238T|PFKFB4_ENST00000536104.1_Missense_Mutation_p.I227T|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000383734.2_Missense_Mutation_p.I238T|PFKFB4_ENST00000541519.1_Missense_Mutation_p.I204T|PFKFB4_ENST00000490115.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	238	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTAATATACGATGCGGCTCTG	0.577																																						ENST00000232375.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(712-714)aTc>aCc		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4							155	150	152					3																	48573816		2203	4300	6503	SO:0001583	missense	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48573816A>G	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.713T>C	3.37:g.48573816A>G	ENSP00000232375:p.Ile238Thr					PFKFB4_ENST00000383734.2_Missense_Mutation_p.I238T|PFKFB4_ENST00000416568.1_Missense_Mutation_p.I238T|PFKFB4_ENST00000541519.1_Missense_Mutation_p.I204T|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000536104.1_Missense_Mutation_p.I227T	p.I238T	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	8	825	-			238			6-phosphofructo-2-kinase.		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	c.713T>C	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	A	19.59	3.855849	0.71834	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519;ENST00000452531	.	.	.	4.43	4.43	0.53597	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	M	0.61703	1.905	0.80722	D	1	P;D;D;P	0.76494	0.918;0.997;0.999;0.497	D;D;D;B	0.91635	0.915;0.996;0.999;0.398	T	0.68179	-0.5477	9	0.31617	T	0.26	-25.7242	11.9766	0.53096	1.0:0.0:0.0:0.0	.	227;238;238;238	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	T	238;227;238;238;204;227	.	ENSP00000232375:I238T	I	-	2	0	PFKFB4	48548820	1.000000	0.71417	0.889000	0.34880	0.934000	0.57294	5.112000	0.64634	1.999000	0.58509	0.459000	0.35465	ATC		0.577	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		24	98	0	0	0	1	0	24	98					G	48573816	A	G	48573816	3	3	456	1	0	0	0	0	1	0	0	0	11763	333	12	4	724	4	PFKFB4	3	48573816	Missense_Mutation	SNP	A	TCGA-YL-A8SB-01A-31D-A377-08		48573816	149448614	8	31111											
POLR2B	5431	broad.mit.edu	37	chr4	57856954	57856954	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttggttagacaacagctgGattcttttgatgagtttatt	9	17	10	5	0	1	3	0	2	1	1	1	4	1	4	0	2	2	4	0	2	3	8			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr4:57856954G>T	ENST00000381227.1	+	4	546	c.133G>T	c.(133-135)Gat>Tat	p.D45Y	POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000441246.2_Missense_Mutation_p.D38Y|POLR2B_ENST00000314595.5_Missense_Mutation_p.D45Y			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	45					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ACAACAGCTGGATTCTTTTGA	0.408																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(133-135)Gat>Tat		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							135	136	136					4																	57856954		2203	4300	6503	SO:0001583	missense	5431				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	g.chr4:57856954G>T		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.133G>T	4.37:g.57856954G>T	ENSP00000370625:p.Asp45Tyr					POLR2B_ENST00000441246.2_Missense_Mutation_p.D38Y|POLR2B_ENST00000314595.5_Missense_Mutation_p.D45Y|POLR2B_ENST00000431623.2_Intron	p.D45Y			P30876	RPB2_HUMAN			4	546	+	Glioma(25;0.08)|all_neural(26;0.181)		45					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.133G>T	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061513	0.93846	.	.	ENSG00000047315	ENST00000450656;ENST00000381227;ENST00000441246;ENST00000433463;ENST00000314595	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.9	5.9	0.94986	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.92625	0.7657	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.93451	0.6802	10	0.87932	D	0	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	45	P30876	RPB2_HUMAN	Y	45;45;38;38;45	ENSP00000408638:D45Y;ENSP00000370625:D45Y;ENSP00000391452:D38Y;ENSP00000407728:D38Y;ENSP00000312735:D45Y	ENSP00000312735:D45Y	D	+	1	0	POLR2B	57551711	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.859000	0.99545	2.806000	0.96561	0.655000	0.94253	GAT		0.408	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		30	96	1	0	3.00307e-07	1	3.35637e-07	30	96					T	57856954	G	T	57856954	3	4	456	1	0	0	0	0	1	0	0	0	12215	1174	41	5	143	5	POLR2B	4	57856954	Missense_Mutation	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08		57856954	133297322	9	31112											
UGT2B15	7366	broad.mit.edu	37	chr4	69535901	69535901	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctgccagaatgacatcaaActttgactcttgtagtttca	12	14	6	9	0	4	3	2	2	2	1	4	3	4	3	1	0	2	2	1	0	3	4			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr4:69535901A>T	ENST00000338206.5	-	1	445	c.436T>A	c.(436-438)Ttt>Att	p.F146I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	146					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	ATGACATCAAACTTTGACTCT	0.373																																						ENST00000338206.5																			0											c.(436-438)Ttt>Att		UDP glucuronosyltransferase 2 family, polypeptide B15							206	213	211					4																	69535901		2203	4296	6499	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69535901A>T	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"UDP glucuronosyltransferases"	12546	protein-coding gene	gene with protein product		600069	"UDP glycosyltransferase 2 family, polypeptide B15"			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.436T>A	4.37:g.69535901A>T	ENSP00000341045:p.Phe146Ile						p.F146I	NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			1	445	-			146					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.436T>A	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	a	13.78	2.339991	0.41398	.	.	ENSG00000196620	ENST00000338206	T	0.63580	-0.05	2.79	2.79	0.32731	.	0.277522	0.29616	U	0.011645	T	0.81088	0.4750	M	0.93720	3.45	0.27031	N	0.964248	D	0.76494	0.999	D	0.74023	0.982	T	0.72896	-0.4153	10	0.87932	D	0	.	8.9997	0.36074	1.0:0.0:0.0:0.0	.	146	P54855	UDB15_HUMAN	I	146	ENSP00000341045:F146I	ENSP00000341045:F146I	F	-	1	0	UGT2B15	69218496	1.000000	0.71417	0.259000	0.24435	0.075000	0.17131	7.976000	0.88070	1.259000	0.44117	0.363000	0.22086	TTT		0.373	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		12	307	0	0	0	1	0	12	307					T	69535901	A	T	69535901	3	4	456	1	0	0	0	0	1	0	0	0	16955	43	2	5	2797	5	UGT2B15	4	69535901	Missense_Mutation	SNP	A	TCGA-YL-A8SB-01A-31D-A377-08	11678947	69535901	121618375	10	31113											
NPY2R	4887	broad.mit.edu	37	chr4	156135918	156135918	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgtgtgtggtggtggTgtttgcggtcagctggctgc	1	14	20	6	1	1	0	1	0	0	0	1	0	1	0	0	6	3	4	0	6	0	1			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr4:156135918T>A	ENST00000329476.3	+	2	1316	c.827T>A	c.(826-828)gTg>gAg	p.V276E	NPY2R_ENST00000506608.1_Missense_Mutation_p.V276E	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	276					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	GTGGTGGTGGTGTTTGCGGTC	0.512																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(826-828)gTg>gAg		neuropeptide Y receptor Y2							108	100	103					4																	156135918		2203	4300	6503	SO:0001583	missense	4887				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	g.chr4:156135918T>A	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.827T>A	4.37:g.156135918T>A	ENSP00000332591:p.Val276Glu					NPY2R_ENST00000506608.1_Missense_Mutation_p.V276E	p.V276E	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	1316	+	all_hematologic(180;0.24)	Renal(120;0.0854)	276					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.827T>A	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.040868	0.75732	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.58506	0.33;0.33	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80722	0.4677	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84807	0.0788	10	0.87932	D	0	.	15.5947	0.76569	0.0:0.0:0.0:1.0	.	276	P49146	NPY2R_HUMAN	E	276	ENSP00000332591:V276E;ENSP00000426366:V276E	ENSP00000332591:V276E	V	+	2	0	NPY2R	156355368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.289000	0.72696	2.274000	0.75844	0.523000	0.50628	GTG		0.512	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		7	33	0	0	0	1	0	7	33					A	156135918	T	A	156135918	3	1	456	1	0	0	0	0	1	0	0	0	10609	1696	59	5	829	5	NPY2R	4	156135918	Missense_Mutation	SNP	T	TCGA-YL-A8SB-01A-31D-A377-08	86600017	156135918	35018358	11	31114											
ZNF454	285676	broad.mit.edu	37	chr5	178392554	178392554	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcatactggagagaaaccTtataaatgtaatgaatgtgg	16	12	9	4	0	1	2	1	1	0	1	1	4	1	3	1	2	2	1	1	2	7	5			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr5:178392554T>G	ENST00000320129.3	+	5	1452	c.1149T>G	c.(1147-1149)ccT>ccG	p.P383P	ZNF454_ENST00000519564.1_Silent_p.P383P	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GAGAGAAACCTTATAAATGTA	0.413																																						ENST00000320129.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46						c.(1147-1149)ccT>ccG		zinc finger protein 454							44	47	46					5																	178392554		2203	4300	6503	SO:0001819	synonymous_variant	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178392554T>G	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.1149T>G	5.37:g.178392554T>G						ZNF454_ENST00000519564.1_Silent_p.P383P	p.P383P	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	1452	+	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)	383					Q2M1P2|Q2M323	Silent	SNP	ENST00000320129.3	37	c.1149T>G	CCDS4441.1																																																																																				0.413	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		10	62	0	0	0	1	0	10	62					G	178392554	T	G	178392554	2	3	456	1	0	0	0	0	0	0	0	1	17920	1596	56	5		5	ZNF454	5	178392554	Silent	SNP	T	TCGA-YL-A8SB-01A-31D-A377-08		178392554	2522706	12	31115											
DNAH8	1769	broad.mit.edu	37	chr6	38877389	38877389	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggccaagggaggctctGattgctgtggcctcctactt	5	11	13	12	1	1	1	0	1	1	0	2	2	2	2	3	4	2	3	3	4	2	3			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr6:38877389G>T	ENST00000359357.3	+	63	9212	c.8958G>T	c.(8956-8958)ctG>ctT	p.L2986L	DNAH8_ENST00000449981.2_Silent_p.L3203L|DNAH8_ENST00000441566.1_Silent_p.L2950L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2986	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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						GGGAGGCTCTGATTGCTGTGG	0.453																																						ENST00000359357.3																			0				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						c.(8956-8958)ctG>ctT		dynein, axonemal, heavy chain 8							135	126	129					6																	38877389		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38877389G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8958G>T	6.37:g.38877389G>T						DNAH8_ENST00000449981.2_Silent_p.L3203L|DNAH8_ENST00000441566.1_Silent_p.L2950L	p.L2986L							63	9212	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.8958G>T																																																																																					0.453	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		5	74	1	0	1.23904e-05	1	1.35818e-05	5	74					T	38877389	G	T	38877389	2	4	456	1	0	0	0	0	0	0	0	1	4607	1277	45	5		5	DNAH8	6	38877389	Silent	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08		38877389	132237678	13	31116											
BMP5	653	broad.mit.edu	37	chr6	55684508	55684508	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttaattgtttcattttCaaatcggttgttgctccggt	8	19	7	7	2	3	0	2	0	1	0	5	0	4	0	1	2	1	4	1	2	3	7			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr6:55684508C>A	ENST00000370830.3	-	2	1326	c.628G>T	c.(628-630)Gaa>Taa	p.E210*	BMP5_ENST00000446683.2_Nonsense_Mutation_p.E210*	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	210					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTTTCATTTTCAAATCGGTTG	0.328																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(628-630)Gaa>Taa		bone morphogenetic protein 5							101	93	96					6																	55684508		2203	4300	6503	SO:0001587	stop_gained	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55684508C>A		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.628G>T	6.37:g.55684508C>A	ENSP00000359866:p.Glu210*					BMP5_ENST00000446683.2_Nonsense_Mutation_p.E210*	p.E210*	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		2	1326	-	Lung NSC(77;0.0462)		210					B4E0Y4|Q9H547|Q9NTM5	Nonsense_Mutation	SNP	ENST00000370830.3	37	c.628G>T	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	C	44	11.169431	0.99525	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	.	.	.	5.74	5.74	0.90152	.	0.107337	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	19.9403	0.97159	0.0:1.0:0.0:0.0	.	.	.	.	X	210	.	ENSP00000359866:E210X	E	-	1	0	BMP5	55792467	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.763000	0.68818	2.712000	0.92718	0.650000	0.86243	GAA		0.328	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			24	79	1	0	5.35356e-11	1	6.10306e-11	24	79					A	55684508	C	A	55684508	4	1	456	1	0	0	0	0	0	1	0	0	1463	835	29	5	760	5	BMP5	6	55684508	Nonsense_Mutation	SNP	C	TCGA-YL-A8SB-01A-31D-A377-08	16807119	55684508	115430559	14	31117											
OR2A4	79541	broad.mit.edu	37	chr6	132021829	132021829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggtgggagaagcaggtgCggaaggctttcctctgaact	10	8	16	7	1	1	3	0	1	1	2	2	5	2	4	1	5	3	2	1	5	3	1			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr6:132021829C>T	ENST00000315453.2	-	1	806	c.713G>A	c.(712-714)cGc>cAc	p.R238H	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	238					positive regulation of cytokinesis (GO:0032467)|regulation of actin cytoskeleton organization (GO:0032956)	cleavage furrow (GO:0032154)|Flemming body (GO:0090543)|integral component of membrane (GO:0016021)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		GAAGCAGGTGCGGAAGGCTTT	0.488																																						ENST00000315453.2																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(712-714)cGc>cAc		olfactory receptor, family 2, subfamily A, member 4							71	96	88					6																	132021829		1843	4252	6095	SO:0001583	missense	79541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:132021829C>T	AC005587	CCDS5149.1	6q23	2012-08-09	2003-05-22		ENSG00000180658	ENSG00000180658		"GPCR / Class A : Olfactory receptors"	14729	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 10"	OR2A10			Standard	NM_030908		Approved		uc011ecd.2	O95047	OTTHUMG00000016316	ENST00000315453.2:c.713G>A	6.37:g.132021829C>T	ENSP00000319546:p.Arg238His					ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron	p.R238H	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN		GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)	1	806	-	Breast(56;0.0753)		238					Q0VAR3|Q6IF18|Q9NQN0	Missense_Mutation	SNP	ENST00000315453.2	37	c.713G>A	CCDS5149.1	.	.	.	.	.	.	.	.	.	.	-	2.535	-0.307544	0.05458	.	.	ENSG00000180658	ENST00000315453	T	0.00099	8.73	1.65	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36628	U	0.002490	T	0.00012	0.0000	N	0.01874	-0.695	0.09310	N	1	B	0.19935	0.04	B	0.11329	0.006	T	0.32745	-0.9895	10	0.56958	D	0.05	.	7.9443	0.29976	0.0:0.2593:0.7407:0.0	.	238	O95047	OR2A4_HUMAN	H	238	ENSP00000319546:R238H	ENSP00000319546:R238H	R	-	2	0	OR2A4	132063522	0.099000	0.21834	0.442000	0.26870	0.000000	0.00434	-0.098000	0.11024	0.032000	0.15435	0.000000	0.15137	CGC		0.488	OR2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109221.1	NM_030908		11	133	0	0	0	1	0	11	133					T	132021829	C	T	132021829	3	4	456	1	0	0	0	0	1	0	0	0	10979	768	27	1	222	1	OR2A4	6	132021829	Missense_Mutation	SNP	C	TCGA-YL-A8SB-01A-31D-A377-08	76337321	132021829	39093238	15	31118											
TBP	6908	broad.mit.edu	37	chr6	170871016	170871016	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcaacaacaacaGcagcagcagcagcagcagca	17	0	10	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	10	0	0	3	0	rs542031948		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr6:170871016G>A	ENST00000392092.2	+	3	471	c.192G>A	c.(190-192)caG>caA	p.Q64Q	TBP_ENST00000540980.1_Silent_p.Q44Q|TBP_ENST00000230354.6_Silent_p.Q64Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	64	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			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)		aacaacaacagcagcagcagc	0.557													G|||	1	0.000199681	8e-04	0	5008	,	,		14897	0		0	False		,,,				2504	0					ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(190-192)caG>caA		TATA box binding protein							31	35	33					6																	170871016		2202	4292	6494	SO:0001819	synonymous_variant	6908				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	g.chr6:170871016G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.192G>A	6.37:g.170871016G>A						TBP_ENST00000540980.1_Silent_p.Q44Q|TBP_ENST00000230354.6_Silent_p.Q64Q	p.Q64Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	471	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	64			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.192G>A	CCDS5315.1																																																																																				0.557	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	39	0	0	0	1	0	4	39					A	170871016	G	A	170871016	2	1	456	1	0	0	0	0	0	0	0	1	15641	962	34	3		3	TBP	6	170871016	Silent	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08	38849187	170871016	244051	16	31119											
ZNF696	79943	broad.mit.edu	37	chr8	144378438	144378438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagcttcaacctcctccGgcaccagcgcgtgcacacgg	8	5	10	18	4	1	1	1	0	0	1	3	1	3	1	5	2	4	3	5	2	1	1			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr8:144378438G>A	ENST00000330143.3	+	3	1002	c.593G>A	c.(592-594)cGg>cAg	p.R198Q		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AACCTCCTCCGGCACCAGCGC	0.731																																						ENST00000330143.3																			0				lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8						c.(592-594)cGg>cAg		zinc finger protein 696							14	15	15					8																	144378438		2197	4289	6486	SO:0001583	missense	79943				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144378438G>A	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.593G>A	8.37:g.144378438G>A	ENSP00000328515:p.Arg198Gln						p.R198Q	NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		3	1002	+	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)		198					A0AVE2	Missense_Mutation	SNP	ENST00000330143.3	37	c.593G>A	CCDS6399.1	.	.	.	.	.	.	.	.	.	.	G	8.247	0.808094	0.16467	.	.	ENSG00000185730	ENST00000518575;ENST00000330143	T;T	0.29655	1.56;1.75	3.09	-0.779	0.10973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20414	0.0491	L	0.57130	1.785	0.09310	N	0.999998	P	0.40731	0.728	B	0.24701	0.055	T	0.10800	-1.0614	8	.	.	.	.	6.9675	0.24631	0.4872:0.0:0.5128:0.0	.	198	Q9H7X3	ZN696_HUMAN	Q	198	ENSP00000427857:R198Q;ENSP00000328515:R198Q	.	R	+	2	0	ZNF696	144449813	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.658000	0.00401	-0.058000	0.13177	0.551000	0.68910	CGG		0.731	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		3	15	0	0	0	1	0	3	15					A	144378438	G	A	144378438	3	1	456	1	0	0	0	0	1	0	0	0	18096	1116	39	2	599	2	ZNF696	8	144378438	Missense_Mutation	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08		144378438	1985584	17	31120											
SMC2	10592	broad.mit.edu	37	chr9	106858474	106858474	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagtttacaaaaatgggcagGctggtattaccaaagcctct	13	11	9	8	0	1	0	0	0	1	0	1	0	1	0	2	3	3	4	2	3	7	5			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr9:106858474G>C	ENST00000286398.7	+	3	502	c.214G>C	c.(214-216)Gct>Cct	p.A72P	SMC2_ENST00000374787.3_Missense_Mutation_p.A72P|SMC2_ENST00000303219.8_Missense_Mutation_p.A72P|SMC2_ENST00000374793.3_Missense_Mutation_p.A72P	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	72					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			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						AAATGGGCAGGCTGGTATTAC	0.343																																						ENST00000286398.7																			0				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						c.(214-216)Gct>Cct		structural maintenance of chromosomes 2							97	103	101					9																	106858474		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106858474G>C	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.214G>C	9.37:g.106858474G>C	ENSP00000286398:p.Ala72Pro					SMC2_ENST00000303219.8_Missense_Mutation_p.A72P|SMC2_ENST00000374787.3_Missense_Mutation_p.A72P|SMC2_ENST00000374793.3_Missense_Mutation_p.A72P	p.A72P	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			3	502	+			72					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.214G>C	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681901	0.88542	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.43	4.48	0.54585	RecF/RecN/SMC (1);	0.049725	0.85682	D	0.000000	T	0.78886	0.4354	M	0.67700	2.07	0.58432	D	0.999998	P;D	0.71674	0.604;0.998	P;D	0.74674	0.524;0.984	T	0.81037	-0.1114	10	0.87932	D	0	-11.9491	13.7096	0.62661	0.0:0.0:0.8452:0.1548	.	72;72	O95347;Q2KQ72	SMC2_HUMAN;.	P	72	ENSP00000286398:A72P;ENSP00000363925:A72P;ENSP00000306152:A72P;ENSP00000363919:A72P	ENSP00000286398:A72P	A	+	1	0	SMC2	105898295	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.850000	0.86915	2.543000	0.85770	0.655000	0.94253	GCT		0.343	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			22	77	0	0	0	1	0	22	77					C	106858474	G	C	106858474	3	2	456	1	0	0	0	0	1	0	0	0	14783	1203	42	5	220	5	SMC2	9	106858474	Missense_Mutation	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08		106858474	34354957	18	31121											
APBB1IP	54518	broad.mit.edu	37	chr10	26785235	26785235	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggatcttttttcacagagTttaggagttgacactctccc	8	14	10	9	0	3	2	1	1	2	1	4	4	3	4	1	3	0	2	1	3	1	6			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr10:26785235T>C	ENST00000376236.4	+	4	530	c.75T>C	c.(73-75)agT>agC	p.S25S	APBB1IP_ENST00000356785.4_Silent_p.S25S	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	25					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTTCACAGAGTTTAGGAGTTG	0.378																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(73-75)agT>agC		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							91	90	91					10																	26785235		2203	4300	6503	SO:0001819	synonymous_variant	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26785235T>C	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"Pleckstrin homology (PH) domain containing"	17379	protein-coding gene	gene with protein product	"Rap1-GTP-interacting adaptor molecule"	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.75T>C	10.37:g.26785235T>C						APBB1IP_ENST00000356785.4_Silent_p.S25S	p.S25S	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN			4	530	+			25					Q8IWS8|Q8IYL7|Q8IZZ7	Silent	SNP	ENST00000376236.4	37	c.75T>C	CCDS31167.1																																																																																				0.378	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		4	61	0	0	0	1	0	4	61					C	26785235	T	C	26785235	2	2	456	1	0	0	0	0	0	0	0	1	760	1722	60	4		4	APBB1IP	10	26785235	Silent	SNP	T	TCGA-YL-A8SB-01A-31D-A377-08		26785235	108749512	19	31122											
PPIF	10105	broad.mit.edu	37	chr10	81113578	81113578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagaagattgtcatcacaGactgtggccagttgagctaa	13	9	10	9	0	2	4	2	1	0	3	2	4	2	4	2	1	1	2	2	1	3	3			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr10:81113578G>A	ENST00000225174.3	+	6	675	c.604G>A	c.(604-606)Gac>Aac	p.D202N	PPIF_ENST00000394579.3_3'UTR	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	202	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic mitochondrial changes (GO:0008637)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ATPase activity (GO:0032780)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein folding (GO:0006457)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of necrotic cell death (GO:0010939)|regulation of proton-transporting ATPase activity, rotational mechanism (GO:0010849)|response to ischemia (GO:0002931)	membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(2)|skin(2)	6	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)		Cyclosporine(DB00091)|L-Proline(DB00172)	TGTCATCACAGACTGTGGCCA	0.537																																						ENST00000225174.3																			0				endometrium(2)|lung(2)|skin(2)	6						c.(604-606)Gac>Aac		peptidylprolyl isomerase F	Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)						114	94	100					10																	81113578		2203	4300	6503	SO:0001583	missense	10105				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity	g.chr10:81113578G>A	M80254	CCDS7358.1	10q22-q23	2008-10-24	2008-10-24		ENSG00000108179	ENSG00000108179	5.2.1.8		9259	protein-coding gene	gene with protein product	"cyclophilin D"	604486	"peptidylprolyl isomerase F (cyclophilin F)"			1744118	Standard	NM_005729		Approved	hCyP3, Cyp-D	uc001kai.3	P30405	OTTHUMG00000018562	ENST00000225174.3:c.604G>A	10.37:g.81113578G>A	ENSP00000225174:p.Asp202Asn					PPIF_ENST00000394579.3_3'UTR	p.D202N	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		6	675	+	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		202			PPIase cyclophilin-type.		Q2YDB7|Q5W131	Missense_Mutation	SNP	ENST00000225174.3	37	c.604G>A	CCDS7358.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652721	0.88056	.	.	ENSG00000108179	ENST00000225174	T	0.43688	0.94	5.65	5.65	0.86999	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.045464	0.85682	D	0.000000	T	0.52224	0.1721	N	0.25286	0.73	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.50759	-0.8790	10	0.42905	T	0.14	-51.3002	19.3509	0.94384	0.0:0.0:1.0:0.0	.	202	P30405	PPIF_HUMAN	N	202	ENSP00000225174:D202N	ENSP00000225174:D202N	D	+	1	0	PPIF	80783584	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.570000	0.82390	2.655000	0.90218	0.655000	0.94253	GAC		0.537	PPIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048949.1	NM_005729		6	40	0	0	0	1	0	6	40					A	81113578	G	A	81113578	3	1	456	1	0	0	0	0	1	0	0	0	12323	942	33	3	626	3	PPIF	10	81113578	Missense_Mutation	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08	54328343	81113578	54421169	20	31123											
GDPD4	220032	broad.mit.edu	37	chr11	76980034	76980034	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctccttctcctgaatgcAgggagaataaatccccagtg	11	11	8	11	0	2	2	0	1	2	1	5	3	3	2	4	1	1	1	4	1	4	3			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr11:76980034A>C	ENST00000376217.2	-	8	809	c.559T>G	c.(559-561)Tgc>Ggc	p.C187G	GDPD4_ENST00000315938.4_Missense_Mutation_p.C187G|GDPD4_ENST00000527489.1_5'Flank			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	187					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TCCTGAATGCAGGGAGAATAA	0.438																																						ENST00000315938.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						c.(559-561)Tgc>Ggc		glycerophosphodiester phosphodiesterase domain containing 4							114	110	112					11																	76980034		2200	4292	6492	SO:0001583	missense	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76980034A>C	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.559T>G	11.37:g.76980034A>C	ENSP00000365390:p.Cys187Gly					GDPD4_ENST00000376217.2_Missense_Mutation_p.C187G	p.C187G	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN			8	809	-			187					Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37	c.559T>G		.	.	.	.	.	.	.	.	.	.	A	18.80	3.701994	0.68501	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.18016	2.24;2.31	5.07	5.07	0.68467	.	0.048437	0.85682	D	0.000000	T	0.44244	0.1284	M	0.82193	2.58	0.39621	D	0.970035	D	0.89917	1.0	D	0.87578	0.998	T	0.51395	-0.8711	10	0.72032	D	0.01	-20.3193	12.4733	0.55799	1.0:0.0:0.0:0.0	.	187	Q6W3E5-2	.	G	187	ENSP00000365390:C187G;ENSP00000320815:C187G	ENSP00000320815:C187G	C	-	1	0	GDPD4	76657682	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.346000	0.72999	2.136000	0.66102	0.533000	0.62120	TGC		0.438	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		53	94	0	0	0	1	0	53	94					C	76980034	A	C	76980034	3	2	456	1	0	0	0	0	1	0	0	0	6326	188	7	5	1039	5	GDPD4	11	76980034	Missense_Mutation	SNP	A	TCGA-YL-A8SB-01A-31D-A377-08		76980034	58026482	21	31124											
MLL2	8085	broad.mit.edu	37	chr12	49434822	49434822	+	Frame_Shift_Del	DEL	A	A	-																															aggggcagcggggtttgaggAatgggtcaggtgtggagggc																										TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr12:49434822delA	ENST00000301067.7	-	31	6730	c.6731delT	c.(6730-6732)ttcfs	p.F2244fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2244	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGGTTTGAGGAATGGGTCAGG	0.662																																						ENST00000301067.7																			0											c.(6730-6732)tcfs		lysine (K)-specific methyltransferase 2D							46	52	50					12																	49434822		1932	4130	6062	SO:0001589	frameshift_variant	8085							g.chr12:49434822delA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6731delT	12.37:g.49434822delA	ENSP00000301067:p.Phe2244fs						p.F2244fs	NM_003482.3	NP_003473.3					31	6730	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.6731delT	CCDS44873.1																																																																																				0.662	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			11	41						11	41	---	---	---	---	-	49434822	A	-	49434822	7	5	456	1	0	1	0	1	0	0	0	0	9621	246	9	0	9978	0	MLL2	12	49434822	Frame_Shift_Del	DEL	A	TCGA-YL-A8SB-01A-31D-A377-08		49434822	84417073	22	31125											
IGFBP6	3489	broad.mit.edu	37	chr12	53494618	53494618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctcccagcccaattctGcgggtgtccaagacactgag	8	7	10	16	2	1	2	0	1	1	1	3	2	3	2	4	1	2	0	4	1	2	1			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr12:53494618G>A	ENST00000301464.3	+	2	730	c.457G>A	c.(457-459)Gcg>Acg	p.A153T	SOAT2_ENST00000301466.3_5'Flank|IGFBP6_ENST00000549628.1_3'UTR|IGFBP6_ENST00000548547.1_Missense_Mutation_p.A151T	NM_002178.2	NP_002169.1	P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	153					cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						GCCCAATTCTGCGGGTGTCCA	0.602																																					Esophageal Squamous(83;1656 1718 30141 34380)	ENST00000548547.1																			0				large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						c.(451-453)Gcg>Acg		insulin-like growth factor binding protein 6							91	90	90					12																	53494618		2203	4300	6503	SO:0001583	missense	3489				negative regulation of cell proliferation|regulation of cell growth|signal transduction			g.chr12:53494618G>A		CCDS8846.1	12q13	2008-07-28				ENSG00000167779			5475	protein-coding gene	gene with protein product		146735				1850258, 10087296	Standard	NM_002178		Approved		uc001sbu.1	P24592	OTTHUMG00000169773	ENST00000301464.3:c.457G>A	12.37:g.53494618G>A	ENSP00000301464:p.Ala153Thr					IGFBP6_ENST00000301464.3_Missense_Mutation_p.A153T|IGFBP6_ENST00000549628.1_3'UTR	p.A151T			P24592	IBP6_HUMAN			2	733	+			153					Q14492	Missense_Mutation	SNP	ENST00000301464.3	37	c.451G>A	CCDS8846.1	.	.	.	.	.	.	.	.	.	.	G	9.469	1.095087	0.20471	.	.	ENSG00000167779	ENST00000548547;ENST00000301464	T;T	0.61859	0.07;0.07	4.6	4.6	0.57074	Thyroglobulin type-1 (1);	1.769110	0.03092	N	0.159991	T	0.44222	0.1283	N	0.14661	0.345	0.09310	N	1	B	0.33073	0.396	B	0.32211	0.142	T	0.28038	-1.0056	10	0.13470	T	0.59	-7.7634	13.1109	0.59273	0.0:0.0:1.0:0.0	.	153	P24592	IBP6_HUMAN	T	151;153	ENSP00000448953:A151T;ENSP00000301464:A153T	ENSP00000301464:A153T	A	+	1	0	IGFBP6	51780885	0.856000	0.29760	0.079000	0.20413	0.045000	0.14185	4.321000	0.59209	2.564000	0.86499	0.655000	0.94253	GCG		0.602	IGFBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405813.1			14	66	0	0	0	1	0	14	66					A	53494618	G	A	53494618	3	1	456	1	0	0	0	0	1	0	0	0	7583	1319	46	3	463	3	IGFBP6	12	53494618	Missense_Mutation	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08	4059796	53494618	80357277	23	31126											
DICER1	23405	broad.mit.edu	37	chr14	95562162	95562162	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtcgtgggctccttacCagtgatagtattgtagtggt	6	15	13	7	1	1	1	0	1	1	0	3	1	2	1	2	3	1	3	2	3	4	5			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr14:95562162C>T	ENST00000526495.1	-	25	5386	c.5095G>A	c.(5095-5097)Gat>Aat	p.D1699N	DICER1_ENST00000527414.1_Splice_Site_p.D1699N|DICER1_ENST00000343455.3_Splice_Site_p.D1699N|DICER1_ENST00000556045.1_Splice_Site_p.D597N|DICER1_ENST00000541352.1_Splice_Site_p.D1699N|DICER1_ENST00000393063.1_Splice_Site_p.D1699N			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1699	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGCTCCTTACCAGTGATAGTA	0.393			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.e25+1		dicer 1, ribonuclease type III							62	60	61					14																	95562162		2203	4299	6502	SO:0001630	splice_region_variant	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	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	g.chr14:95562162C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5095+1G>A	14.37:g.95562162C>T						DICER1_ENST00000541352.1_Splice_Site_p.D1699_splice|DICER1_ENST00000343455.3_Splice_Site_p.D1699_splice|DICER1_ENST00000556045.1_Splice_Site_p.D597_splice|DICER1_ENST00000527414.1_Splice_Site_p.D1699_splice|DICER1_ENST00000393063.1_Splice_Site_p.D1699_splice	p.D1699_splice			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	25	5386	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1699			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Splice_Site	SNP	ENST00000526495.1	37	c.5095_splice	CCDS9931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.023646|4.023646	0.75390|0.75390	.|.	.|.	ENSG00000100697|ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352|ENST00000532939	T;T;T;T;D;T|.	0.87412|.	0.24;0.24;0.24;0.24;-2.25;0.57|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Ribonuclease III (4);|.	0.108992|.	0.64402|.	D|.	0.000007|.	T|.	0.67887|.	0.2941|.	L|L	0.41415|0.41415	1.275|1.275	0.80722|0.80722	D|D	1|1	B;D|.	0.56521|.	0.32;0.976|.	B;D|.	0.66196|.	0.175;0.942|.	T|.	0.61811|.	-0.6986|.	10|.	0.15066|.	T|.	0.55|.	-24.0188|-24.0188	20.0204|20.0204	0.97499|0.97499	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	597;1699|.	B3KRG4;Q9UPY3|.	.;DICER_HUMAN|.	N|X	1699;1699;1699;1699;597;1699|377	ENSP00000343745:D1699N;ENSP00000437256:D1699N;ENSP00000376783:D1699N;ENSP00000435681:D1699N;ENSP00000451041:D597N;ENSP00000444719:D1699N|.	ENSP00000343745:D1699N|.	D|W	-|-	1|2	0|0	DICER1|DICER1	94631915|94631915	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.395000|7.395000	0.79876|0.79876	2.729000|2.729000	0.93468|0.93468	0.650000|0.650000	0.86243|0.86243	GAT|TGG		0.393	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		Missense_Mutation	6	50	0	0	0	1	0	6	50					T	95562162	C	T	95562162	5	4	456	1	0	0	0	0	0	0	1	0	4521	608	21	3	693	3	DICER1	14	95562162	Splice_Site	SNP	C	TCGA-YL-A8SB-01A-31D-A377-08		95562162	11787378	24	31127											
MYO1E	4643	broad.mit.edu	37	chr15	59500983	59500983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagcagcgtctgatctgccCcctcacccaccgcatgcatc	7	7	9	18	2	3	1	1	1	2	0	4	2	3	2	4	1	4	3	4	1	0	0			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr15:59500983C>T	ENST00000288235.4	-	14	1826	c.1427G>A	c.(1426-1428)gGg>gAg	p.G476E		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	476	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTGATCTGCCCCCTCACCCAC	0.537																																						ENST00000288235.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(1426-1428)gGg>gAg		myosin IE							160	134	142					15																	59500983		2191	4290	6481	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59500983C>T	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1427G>A	15.37:g.59500983C>T	ENSP00000288235:p.Gly476Glu						p.G476E	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	14	1826	-			476			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.1427G>A	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408774	0.96072	.	.	ENSG00000157483	ENST00000288235	D	0.87491	-2.26	5.37	5.37	0.77165	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95345	0.8489	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95994	0.8988	10	0.87932	D	0	.	19.4857	0.95027	0.0:1.0:0.0:0.0	.	476	Q12965	MYO1E_HUMAN	E	476	ENSP00000288235:G476E	ENSP00000288235:G476E	G	-	2	0	MYO1E	57288275	1.000000	0.71417	0.982000	0.44146	0.937000	0.57800	7.750000	0.85110	2.677000	0.91161	0.561000	0.74099	GGG		0.537	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		13	54	0	0	0	1	0	13	54					T	59500983	C	T	59500983	3	4	456	1	0	0	0	0	1	0	0	0	10072	623	22	3	1959	3	MYO1E	15	59500983	Missense_Mutation	SNP	C	TCGA-YL-A8SB-01A-31D-A377-08		59500983	43030409	25	31128											
MEGF11	84465	broad.mit.edu	37	chr15	66215182	66215182	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctggcataagggtcctcGgaagccaggggcacactcgc	8	7	13	13	2	1	0	0	0	1	0	5	1	2	1	2	5	1	2	2	5	2	1	rs142480684	byFrequency	TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr15:66215182G>A	ENST00000409699.2	-	14	1973	c.1801C>T	c.(1801-1803)Cga>Tga	p.R601*	MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000288745.3_Nonsense_Mutation_p.R526*|MEGF11_ENST00000360698.4_Nonsense_Mutation_p.R601*|MEGF11_ENST00000422354.1_Nonsense_Mutation_p.R601*|MEGF11_ENST00000395625.2_Nonsense_Mutation_p.R526*			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	601	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						AAGGGTCCTCGGAAGCCAGGG	0.617																																						ENST00000409699.2																			0				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						c.(1801-1803)Cga>Tga		multiple EGF-like-domains 11							46	52	50					15																	66215182		2201	4299	6500	SO:0001587	stop_gained	84465					basolateral plasma membrane|integral to membrane		g.chr15:66215182G>A	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.1801C>T	15.37:g.66215182G>A	ENSP00000386908:p.Arg601*					MEGF11_ENST00000395625.2_Nonsense_Mutation_p.R526*|MEGF11_ENST00000288745.3_Nonsense_Mutation_p.R526*|MEGF11_ENST00000360698.4_Nonsense_Mutation_p.R601*|MEGF11_ENST00000422354.1_Nonsense_Mutation_p.R601*|MEGF11_ENST00000395614.1_5'UTR	p.R601*			A6BM72	MEG11_HUMAN			14	1973	-			601			EGF-like 10.		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Nonsense_Mutation	SNP	ENST00000409699.2	37	c.1801C>T	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	37	6.452398	0.97577	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000360698	.	.	.	5.21	4.26	0.50523	.	0.000000	0.35970	U	0.002871	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9731	0.64255	0.0:0.0:0.7275:0.2725	.	.	.	.	X	601;526;601;526;601	.	ENSP00000288745:R526X	R	-	1	2	MEGF11	64002236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.741000	0.38238	2.422000	0.82143	0.455000	0.32223	CGA		0.617	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		3	33	0	0	0	1	0	3	33					A	66215182	G	A	66215182	4	1	456	1	0	0	0	0	0	1	0	0	9461	1124	39	2	1373	2	MEGF11	15	66215182	Nonsense_Mutation	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08	6714199	66215182	36316210	26	31129											
CIRH1A	84916	broad.mit.edu	37	chr16	69194341	69194341	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaccagtgctggagtccaTgtctacaacgtaaaacagct	12	9	10	10	1	1	0	0	0	1	0	2	1	2	1	2	2	6	4	2	2	5	3	rs200233638		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr16:69194341T>A	ENST00000314423.7	+	13	1704	c.1527T>A	c.(1525-1527)caT>caA	p.H509Q	CIRH1A_ENST00000352319.4_Missense_Mutation_p.H394Q|CIRH1A_ENST00000563094.1_Missense_Mutation_p.H509Q			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	509					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CTGGAGTCCATGTCTACAACG	0.478																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000563094.1																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(1525-1527)caT>caA		cirrhosis, autosomal recessive 1A (cirhin)							249	216	227					16																	69194341		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69194341T>A	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"WD repeat domain containing"	1983	protein-coding gene	gene with protein product	"UTP4, small subunit (SSU) processome component, homolog (yeast)"	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1527T>A	16.37:g.69194341T>A	ENSP00000327179:p.His509Gln					CIRH1A_ENST00000352319.4_Missense_Mutation_p.H394Q|CIRH1A_ENST00000314423.7_Missense_Mutation_p.H509Q	p.H509Q			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	13	1561	+			509					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.1527T>A	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	T	8.459	0.854882	0.17106	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.30182	1.54;2.29	5.89	-6.67	0.01783	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.354015	0.34411	N	0.003989	T	0.22044	0.0531	L	0.39898	1.24	0.19300	N	0.999971	B;B	0.06786	0.0;0.001	B;B	0.10450	0.005;0.003	T	0.02109	-1.1212	10	0.27785	T	0.31	.	18.3362	0.90288	0.0:0.6459:0.0:0.3541	.	509;509	Q969X6;Q969X6-3	CIR1A_HUMAN;.	Q	509;394	ENSP00000327179:H509Q;ENSP00000339164:H394Q	ENSP00000327179:H509Q	H	+	3	2	CIRH1A	67751842	0.382000	0.25148	0.264000	0.24511	0.877000	0.50540	-0.359000	0.07632	-1.753000	0.01323	-0.417000	0.06048	CAT		0.478	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		4	82	0	0	0	1	0	4	82					A	69194341	T	A	69194341	3	1	456	1	0	0	0	0	1	0	0	0	3434	1461	51	5	1573	5	CIRH1A	16	69194341	Missense_Mutation	SNP	T	TCGA-YL-A8SB-01A-31D-A377-08		69194341	21160412	27	31130											
CDH13	1012	broad.mit.edu	37	chr16	83636156	83636156	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacagccacgatcatgaTcgatgacaaaaatgatcact	15	7	8	11	2	2	3	2	3	0	0	3	5	2	3	2	1	1	0	2	1	2	0			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr16:83636156T>A	ENST00000566620.1	+	8	1348	c.1058T>A	c.(1057-1059)aTc>aAc	p.I353N	CDH13_ENST00000268613.10_Missense_Mutation_p.I400N|CDH13_ENST00000428848.3_Missense_Mutation_p.I314N	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	353	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACGATCATGATCGATGACAAA	0.453																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(1057-1059)aTc>aAc		cadherin 13							186	183	184					16																	83636156		1951	4173	6124	SO:0001583	missense	1012				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	g.chr16:83636156T>A	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1058T>A	16.37:g.83636156T>A	ENSP00000454435:p.Ile353Asn					CDH13_ENST00000268613.10_Missense_Mutation_p.I400N|CDH13_ENST00000428848.3_Missense_Mutation_p.I314N	p.I353N	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	8	1348	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	353			Cadherin 2.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.1058T>A	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.592403	0.86953	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000540531	T	0.59083	0.29	6.02	6.02	0.97574	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.81202	0.4773	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.994;0.997;1.0	D	0.85418	0.1141	9	0.87932	D	0	.	15.3796	0.74645	0.0:0.0:0.0:1.0	.	314;400;353	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	N	400;353;314;55;43	ENSP00000268613:I400N	ENSP00000268613:I400N	I	+	2	0	CDH13	82193657	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.225000	0.72271	2.311000	0.77944	0.533000	0.62120	ATC		0.453	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		34	115	0	0	0	1	0	34	115					A	83636156	T	A	83636156	3	1	456	1	0	0	0	0	1	0	0	0	3099	1435	50	5	1088	5	CDH13	16	83636156	Missense_Mutation	SNP	T	TCGA-YL-A8SB-01A-31D-A377-08	14441815	83636156	6718597	28	31131											
TP53	7157	broad.mit.edu	37	chr17	7578526	7578526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtcttggccagttggCaaaacatcttgttgagggca	9	10	14	8	0	2	1	0	1	2	0	2	1	2	1	1	5	1	5	1	5	2	4	rs587781991		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr17:7578526C>T	ENST00000269305.4	-	5	593	c.404G>A	c.(403-405)tGc>tAc	p.C135Y	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C135Y|TP53_ENST00000455263.2_Missense_Mutation_p.C135Y|TP53_ENST00000445888.2_Missense_Mutation_p.C135Y|TP53_ENST00000413465.2_Missense_Mutation_p.C135Y|TP53_ENST00000359597.4_Missense_Mutation_p.C135Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	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	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)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		152	Substitution - Missense(126)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)	large_intestine(19)|breast(17)|oesophagus(16)|haematopoietic_and_lymphoid_tissue(13)|urinary_tract(13)|upper_aerodigestive_tract(12)|prostate(11)|lung(9)|ovary(9)|liver(7)|bone(6)|stomach(5)|central_nervous_system(5)|soft_tissue(2)|autonomic_ganglia(2)|eye(1)|kidney(1)|pancreas(1)|skin(1)|NS(1)|pituitary(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						c.(403-405)tGc>tAc	Other conserved DNA damage response genes	tumor protein p53							50	50	50					17																	7578526		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578526C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.404G>A	17.37:g.7578526C>T	ENSP00000269305:p.Cys135Tyr	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)				TP53_ENST00000455263.2_Missense_Mutation_p.C135Y|TP53_ENST00000269305.4_Missense_Mutation_p.C135Y|TP53_ENST00000359597.4_Missense_Mutation_p.C135Y|TP53_ENST00000445888.2_Missense_Mutation_p.C135Y|TP53_ENST00000413465.2_Missense_Mutation_p.C135Y	p.C135Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	536	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	135		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.404G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639320	0.87760	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.929;1.0;1.0;1.0;1.0	D	0.97312	0.9938	10	0.87932	D	0	-26.815	17.2272	0.86973	0.0:1.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135Y;ENSP00000352610:C135Y;ENSP00000269305:C135Y;ENSP00000398846:C135Y;ENSP00000391127:C135Y;ENSP00000391478:C135Y;ENSP00000425104:C3Y;ENSP00000423862:C42Y;ENSP00000424104:C135Y	ENSP00000269305:C135Y	C	-	2	0	TP53	7519251	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	TGC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	19	0	0	0	1	0	10	19					T	7578526	C	T	7578526	3	4	456	1	0	0	0	0	1	0	0	0	16378	710	25	3	894	3	TP53	17	7578526	Missense_Mutation	SNP	C	TCGA-YL-A8SB-01A-31D-A377-08		7578526	73616684	29	31132											
TTC39C	125488	broad.mit.edu	37	chr18	21705426	21705426	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcaaaccccaaccaaagcGctctgtgtgttggcgtctat	11	9	9	12	2	2	0	0	0	2	0	2	0	2	0	3	1	4	3	3	1	5	2			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr18:21705426G>T	ENST00000317571.3	+	10	1568	c.1332G>T	c.(1330-1332)gcG>gcT	p.A444A	TTC39C_ENST00000540918.2_Silent_p.A137A|RNU5A-6P_ENST00000384136.1_RNA|TTC39C_ENST00000304621.6_Silent_p.A383A	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	444								p.A383A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						CAACCAAAGCGCTCTGTGTGT	0.408																																						ENST00000540918.2																			1	Substitution - coding silent(1)	p.A383A(1)	lung(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(409-411)gcG>gcT		tetratricopeptide repeat domain 39C							121	111	114					18																	21705426		2203	4300	6503	SO:0001819	synonymous_variant	125488						binding	g.chr18:21705426G>T	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"Tetratricopeptide (TTC) repeat domain containing"	26595	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 17"	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1332G>T	18.37:g.21705426G>T						TTC39C_ENST00000317571.3_Silent_p.A444A|TTC39C_ENST00000304621.6_Silent_p.A383A	p.A137A			Q8N584	TT39C_HUMAN			5	661	+			444					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Silent	SNP	ENST00000317571.3	37	c.411G>T	CCDS45839.1																																																																																				0.408	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		9	80	1	0	0.00829132	1	0.00875195	9	80					T	21705426	G	T	21705426	2	4	456	1	0	0	0	0	0	0	0	1	16706	1074	38	5		5	TTC39C	18	21705426	Silent	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08		21705426	56371822	30	31133											
SLC1A6	6511	broad.mit.edu	37	chr19	15083615	15083616	+	Frame_Shift_Del	DEL	GC	GC	-																															gtctgcaggcgcaggcgcgtGcgcagtgctctctgctgcag																								rs372266621		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr19:15083615_15083616delGC	ENST00000221742.3	-	1	114_115	c.107_108delGC	c.(106-108)cgcfs	p.R36fs	SLC1A6_ENST00000600144.1_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000544886.2_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000430939.2_Frame_Shift_Del_p.H41fs|SLC1A6_ENST00000598504.1_Frame_Shift_Del_p.R36fs	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	36					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GCAGGCGCGTGCGCAGTGCTCT	0.678																																						ENST00000598504.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(106-108)cfs		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15083615_15083616delGC		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.107_108delGC	19.37:g.15083617_15083618delGC	ENSP00000221742:p.Arg36fs					SLC1A6_ENST00000600144.1_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000544886.2_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000430939.2_Frame_Shift_Del_p.AH40fs|SLC1A6_ENST00000221742.3_Frame_Shift_Del_p.R36fs	p.R36fs	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN			4	1466_1467	-			36					Q8N753	Frame_Shift_Del	DEL	ENST00000221742.3	37	c.107_108delGC	CCDS12321.1																																																																																				0.678	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		9	22						9	22	---	---	---	---	-	15083616	GC	-	15083615	7	5	456	1	0	1	0	1	0	0	0	0	14436	1306	46	0	1622	0	SLC1A6	19	15083615	Frame_Shift_Del	DEL	GC	TCGA-YL-A8SB-01A-31D-A377-08		15083615	44045368	31	31134											
ERF	2077	broad.mit.edu	37	chr19	42754713	42754713	+	Frame_Shift_Del	DEL	A	A	-																															taggcccaatccgggaaggcAaaccctggggacgggaggca																										TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr19:42754713delA	ENST00000222329.4	-	2	184	c.27delT	c.(25-27)tttfs	p.F9fs	ERF_ENST00000440177.2_5'UTR|ERF_ENST00000595941.1_5'UTR|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	9					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CCGGGAAGGCAAACCCTGGGG	0.637																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(25-27)ttfs		Ets2 repressor factor							32	28	29					19																	42754713		2203	4300	6503	SO:0001589	frameshift_variant	2077				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	g.chr19:42754713delA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.27delT	19.37:g.42754713delA	ENSP00000222329:p.Phe9fs					ERF_ENST00000440177.2_5'UTR|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'UTR	p.F9fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			2	184	-		Prostate(69;0.00682)	9					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Del	DEL	ENST00000222329.4	37	c.27delT	CCDS12600.1																																																																																				0.637	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		10	13						10	13	---	---	---	---	-	42754713	A	-	42754713	7	5	456	1	0	1	0	1	0	0	0	0	5221	127	5	0	1631	0	ERF	19	42754713	Frame_Shift_Del	DEL	A	TCGA-YL-A8SB-01A-31D-A377-08	27671098	42754713	16374270	32	31135											
PSG7	5676	broad.mit.edu	37	chr19	43430101	43430101	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgccggtgggttagagtccGcaaagcaggacaagtagagg	11	6	17	7	2	0	2	0	0	0	2	1	3	1	3	2	4	2	4	2	4	4	2	rs200190947		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr19:43430101G>A	ENST00000406070.2	-	0	1163				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GTTAGAGTCCGCAAAGCAGGA	0.448																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)		G	VAL/ALA,VAL/ALA	1,4401		0,1,2200	162	171	168		701,1067	0.2	0	19		168	3,8597		0,3,4297	no	missense,missense	PSG7	NM_001206650.1,NM_002783.2	64,64	0,4,6497	AA,AG,GG		0.0349,0.0227,0.0308	,	234/298,356/420	43430101	4,12998	2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43430101G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430101G>A						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	1156	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.448	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		4	150	0	0	0	1	0	4	150					A	43430101	G	A	43430101	1	1	456	0	1	0	0	0	0	0	0	0	12660	1087	38	1		1	PSG7	19	43430101	RNA	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08	675388	43430101	15698882	33	31136											
SDCBP2	27111	broad.mit.edu	37	chr20	1293985	1293985	+	Splice_Site	DEL	T	T	-																															cccagcccccgcgccctaccTggtcgaccttccgcagcctc																										TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr20:1293985delT	ENST00000360779.3	-	5	556	c.383delA	c.(382-384)cag>cg	p.Q128fs	SDCBP2_ENST00000381812.1_Splice_Site_p.Q128fs|SDCBP2_ENST00000467129.1_5'Flank|SDCBP2_ENST00000381808.3_Splice_Site_p.Q43fs|SDCBP2_ENST00000339987.3_Splice_Site_p.Q128fs	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	128	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						GCGCCCTACCTGGTCGACCTT	0.697																																						ENST00000360779.3																			0				endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						c.e5+1		syndecan binding protein (syntenin) 2							24	22	23					20																	1293985		2202	4296	6498	SO:0001630	splice_region_variant	27111				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity	g.chr20:1293985delT	AF131809	CCDS13013.1, CCDS42848.1	20p13	2008-07-02			ENSG00000125775	ENSG00000125775			15756	protein-coding gene	gene with protein product						11152476	Standard	NM_080489		Approved	ST-2, SITAC18	uc021vzn.1	Q9H190	OTTHUMG00000031661	ENST00000360779.3:c.384+1A>-	20.37:g.1293985delT						SDCBP2_ENST00000381808.3_Splice_Site_p.Q43_splice|SDCBP2_ENST00000339987.3_Splice_Site_p.Q128_splice|SDCBP2_ENST00000381812.1_Splice_Site_p.Q128_splice	p.Q128_splice	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN			5	556	-			128			PDZ 1.		O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8	Splice_Site	DEL	ENST00000360779.3	37	c.384_splice	CCDS42848.1																																																																																				0.697	SDCBP2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077513.2	NM_080489	Frame_Shift_Del	2	4						2	4	---	---	---	---	-	1293985	T	-	1293985	8	5	456	1	0	1	0	1	0	0	1	0	13956	1594	55	0	515	0	SDCBP2	20	1293985	Splice_Site	DEL	T	TCGA-YL-A8SB-01A-31D-A377-08		1293985	61731535	34	31137											
HIC2	23119	broad.mit.edu	37	chr22	21800707	21800707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccccggcccttcaagtgttCggtctgcgagaagacctaca	8	8	11	14	3	2	2	1	0	1	2	3	3	2	2	4	2	2	1	4	2	3	3			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr22:21800707C>T	ENST00000443632.2	+	2	1895	c.1523C>T	c.(1522-1524)tCg>tTg	p.S508L	HIC2_ENST00000407598.2_Missense_Mutation_p.S508L|HIC2_ENST00000407464.2_Missense_Mutation_p.S508L			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	508					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			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)				TTCAAGTGTTCGGTCTGCGAG	0.652																																					NSCLC(23;437 858 2282 27947 40366)	ENST00000443632.2																			0				NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1522-1524)tCg>tTg		hypermethylated in cancer 2							43	45	45					22																	21800707		2203	4300	6503	SO:0001583	missense	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21800707C>T	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1523C>T	22.37:g.21800707C>T	ENSP00000387757:p.Ser508Leu					HIC2_ENST00000407598.2_Missense_Mutation_p.S508L|HIC2_ENST00000407464.2_Missense_Mutation_p.S508L	p.S508L			Q96JB3	HIC2_HUMAN			2	1895	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	508					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	37	c.1523C>T	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260801	0.80246	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.07444	3.19;3.19;3.19	4.39	4.39	0.52855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.070252	0.64402	D	0.000015	T	0.15782	0.0380	L	0.35854	1.095	0.49687	D	0.999818	D	0.62365	0.991	P	0.57283	0.817	T	0.00885	-1.1527	10	0.59425	D	0.04	.	14.4823	0.67592	0.0:1.0:0.0:0.0	.	508	Q96JB3	HIC2_HUMAN	L	508	ENSP00000385319:S508L;ENSP00000384889:S508L;ENSP00000387757:S508L	ENSP00000385319:S508L	S	+	2	0	HIC2	20130707	0.994000	0.37717	0.997000	0.53966	0.893000	0.52053	5.834000	0.69361	2.282000	0.76494	0.563000	0.77884	TCG		0.652	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			15	23	0	0	0	1	0	15	23					T	21800707	C	T	21800707	3	4	456	1	0	0	0	0	1	0	0	0	7102	893	31	2	1529	2	HIC2	22	21800707	Missense_Mutation	SNP	C	TCGA-YL-A8SB-01A-31D-A377-08		21800707	29503859	35	31138											
RNF215	200312	broad.mit.edu	37	chr22	30780470	30780470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgctggtgatctcagccGtggcctgggtcctcctggga	3	10	14	14	2	1	1	1	1	1	0	5	2	4	2	5	4	1	1	5	4	0	0			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr22:30780470G>A	ENST00000382363.3	-	5	676	c.602C>T	c.(601-603)aCg>aTg	p.T201M		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	201						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						GATCTCAGCCGTGGCCTGGGT	0.617																																						ENST00000382363.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(601-603)aCg>aTg		ring finger protein 215							74	61	65					22																	30780470		2203	4300	6503	SO:0001583	missense	200312					integral to membrane	zinc ion binding	g.chr22:30780470G>A		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"RING-type (C3HC4) zinc fingers"	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.602C>T	22.37:g.30780470G>A	ENSP00000371800:p.Thr201Met						p.T201M	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN			5	676	-			201					A6NEL1	Missense_Mutation	SNP	ENST00000382363.3	37	c.602C>T	CCDS33633.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.427540	0.25726	.	.	ENSG00000099999	ENST00000382363	T	0.44083	0.93	4.67	2.58	0.30949	.	0.126562	0.52532	D	0.000069	T	0.25195	0.0612	L	0.32530	0.975	0.80722	D	1	P	0.42584	0.784	B	0.34489	0.184	T	0.02574	-1.1139	10	0.34782	T	0.22	-14.6618	8.0324	0.30472	0.19:0.0:0.81:0.0	.	201	Q9Y6U7	RN215_HUMAN	M	201	ENSP00000371800:T201M	ENSP00000371800:T201M	T	-	2	0	RNF215	29110470	0.838000	0.29461	0.961000	0.40146	0.442000	0.32017	1.588000	0.36633	0.581000	0.29539	-0.258000	0.10820	ACG		0.617	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		6	27	0	0	0	1	0	6	27					A	30780470	G	A	30780470	3	1	456	1	0	0	0	0	1	0	0	0	13479	1145	40	1	551	1	RNF215	22	30780470	Missense_Mutation	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08	8979763	30780470	20524096	36	31139											
MAPK12	6300	broad.mit.edu	37	chr22	50699875	50699875	+	Frame_Shift_Del	DEL	C	C	-																															ccggtacacggcgcgcacctCccaggccgtcttggtcacct																										TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr22:50699875delC	ENST00000215659.8	-	1	379	c.64delG	c.(64-66)gagfs	p.E22fs	MAPK12_ENST00000395780.1_5'Flank|MAPK12_ENST00000395778.3_Frame_Shift_Del_p.E22fs|MAPK12_ENST00000497036.1_5'Flank	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	22					cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			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)		GCGCGCACCTCCCAGGCCGTC	0.786																																						ENST00000215659.8																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8						c.(64-66)agfs		mitogen-activated protein kinase 12							3	3	3					22																	50699875		1617	3360	4977	SO:0001589	frameshift_variant	6300				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding	g.chr22:50699875delC	U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.64delG	22.37:g.50699875delC	ENSP00000215659:p.Glu22fs					MAPK12_ENST00000395778.3_Frame_Shift_Del_p.E22fs	p.E22fs	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	379	-		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)	22					Q14260|Q6IC53|Q99588|Q99672	Frame_Shift_Del	DEL	ENST00000215659.8	37	c.64delG	CCDS14089.1																																																																																				0.786	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074999.2	NM_002969		2	4						2	4	---	---	---	---	-	50699875	C	-	50699875	7	5	456	1	0	1	0	1	0	0	0	0	9274	864	30	0	1087	0	MAPK12	22	50699875	Frame_Shift_Del	DEL	C	TCGA-YL-A8SB-01A-31D-A377-08	19919405	50699875	604691	37	31140											
DCDC2B	149069	broad.mit.edu	37	chr1	32674910	32674910	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaacctggcagacttgaaGaacagagggcagtatgtggc	13	6	13	9	0	0	4	0	1	0	3	0	4	0	4	2	3	2	3	2	3	4	2	rs551185618		TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr1:32674910G>A	ENST00000409358.1	+	1	216	c.216G>A	c.(214-216)aaG>aaA	p.K72K	RP4-622L5.7_ENST00000421616.1_RNA	NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	72	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAGACTTGAAGAACAGAGGGC	0.582													G|||	1	0.000199681	0	0.0014	5008	,	,		19820	0		0	False		,,,				2504	0					ENST00000409358.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11						c.(214-216)aaG>aaA		doublecortin domain containing 2B							96	100	99					1																	32674910		2074	4204	6278	SO:0001819	synonymous_variant	149069				intracellular signal transduction			g.chr1:32674910G>A	BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.216G>A	1.37:g.32674910G>A							p.K72K	NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN			1	216	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	72			Doublecortin 1.		B7ZBC6	Silent	SNP	ENST00000409358.1	37	c.216G>A	CCDS44100.1																																																																																				0.582	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328293.1	XM_940631		22	53	0	0	0	1	0	22	53					A	32674910	G	A	32674910	2	1	457	1	0	0	0	0	0	0	0	1	4286	933	33	3		3	DCDC2B	1	32674910	Silent	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08		32674910	216575711	1	31141											
RNF220	55182	broad.mit.edu	37	chr1	44877961	44877961	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcatattcctttcaccaaCggttcctatacctttgcctc	7	15	5	14	1	1	0	1	0	0	0	4	0	3	0	5	1	4	2	5	1	4	7	rs183301724	byFrequency	TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr1:44877961C>T	ENST00000355387.2	+	2	642	c.192C>T	c.(190-192)aaC>aaT	p.N64N	RNF220_ENST00000361799.2_Silent_p.N64N|RNF220_ENST00000372247.2_Silent_p.N64N			Q5VTB9	RN220_HUMAN	ring finger protein 220	64					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTTTCACCAACGGTTCCTATA	0.547													C|||	2	0.000399361	0	0.0029	5008	,	,		21724	0		0	False		,,,				2504	0					ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(190-192)aaC>aaT		ring finger protein 220		C		0,4406		0,0,2203	302	289	293		192	-4.3	1	1		293	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNF220	NM_018150.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		64/567	44877961	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44877961C>T	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.192C>T	1.37:g.44877961C>T						RNF220_ENST00000361799.2_Silent_p.N64N|RNF220_ENST00000372247.2_Silent_p.N64N	p.N64N			Q5VTB9	RN220_HUMAN			2	642	+			64					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Silent	SNP	ENST00000355387.2	37	c.192C>T	CCDS510.1																																																																																				0.547	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		78	244	0	0	0	1	0	78	244					T	44877961	C	T	44877961	2	4	457	1	0	0	0	0	0	0	0	1	13483	535	19	1		1	RNF220	1	44877961	Silent	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08	12203051	44877961	204372660	2	31142											
BOLA1	51027	broad.mit.edu	37	chr1	149871937	149871937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcgctggccatccaggcaCggacccccgcccagtggaga	8	4	13	16	3	0	1	0	0	0	1	1	3	1	2	5	4	1	2	5	4	0	0			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr1:149871937C>T	ENST00000369153.2	+	3	989	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	BOLA1_ENST00000369150.1_Missense_Mutation_p.R109W|BOLA1_ENST00000369152.5_Missense_Mutation_p.R109W|BOLA1_ENST00000476344.1_3'UTR			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	109						extracellular region (GO:0005576)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CATCCAGGCACGGACCCCCGC	0.642																																						ENST00000369153.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10						c.(325-327)Cgg>Tgg		bolA family member 1							27	31	30					1																	149871937		2203	4300	6503	SO:0001583	missense	51027					extracellular region	protein binding	g.chr1:149871937C>T	AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"bolA-like 1 (E. coli)", "bolA homolog 1 (E. coli)"			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.325C>T	1.37:g.149871937C>T	ENSP00000358149:p.Arg109Trp					BOLA1_ENST00000369150.1_Missense_Mutation_p.R109W|BOLA1_ENST00000369152.5_Missense_Mutation_p.R109W|BOLA1_ENST00000476344.1_3'UTR	p.R109W			Q9Y3E2	BOLA1_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		3	989	+	Breast(34;0.0124)|all_hematologic(923;0.127)		109					B2R7K2|D3DUZ4|Q5QNY0	Missense_Mutation	SNP	ENST00000369153.2	37	c.325C>T	CCDS939.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700917	0.48307	.	.	ENSG00000178096	ENST00000369153;ENST00000369152;ENST00000369150	T;T;T	0.64438	-0.1;-0.1;-0.1	5.63	3.69	0.42338	.	0.319538	0.29493	N	0.011996	T	0.52821	0.1758	L	0.52364	1.645	0.32602	N	0.525748	D	0.62365	0.991	P	0.58970	0.849	T	0.55321	-0.8159	10	0.41790	T	0.15	-32.694	6.1445	0.20278	0.35:0.5634:0.0:0.0866	.	109	Q9Y3E2	BOLA1_HUMAN	W	109	ENSP00000358149:R109W;ENSP00000358148:R109W;ENSP00000358146:R109W	ENSP00000358146:R109W	R	+	1	2	BOLA1	148138561	0.949000	0.32298	0.811000	0.32455	0.079000	0.17450	2.088000	0.41663	1.457000	0.47850	0.561000	0.74099	CGG		0.642	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2	NM_016074		12	23	0	0	0	1	0	12	23					T	149871937	C	T	149871937	3	4	457	1	0	0	0	0	1	0	0	0	1485	527	19	1	327	1	BOLA1	1	149871937	Missense_Mutation	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08	104993976	149871937	99378684	3	31143											
CD1C	911	broad.mit.edu	37	chr1	158259858	158259858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacatctgcaaatgacatgCtgtttctgcagtttctgctg	10	14	8	9	0	3	1	0	1	3	0	3	1	3	1	0	0	5	6	0	0	2	2			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr1:158259858C>A	ENST00000368170.3	+	1	283	c.4C>A	c.(4-6)Ctg>Atg	p.L2M		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	2					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AAATGACATGCTGTTTCTGCA	0.438																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(4-6)Ctg>Atg		CD1c molecule							154	129	138					1																	158259858		2203	4300	6503	SO:0001583	missense	911				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	g.chr1:158259858C>A	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.4C>A	1.37:g.158259858C>A	ENSP00000357152:p.Leu2Met						p.L2M	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			1	283	+	all_hematologic(112;0.0378)		2					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.4C>A	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	10.03	1.238029	0.22711	.	.	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.01234	5.13	2.37	1.46	0.22682	.	0.353403	0.16273	N	0.221669	T	0.02533	0.0077	M	0.84082	2.675	0.09310	N	1	D	0.76494	0.999	D	0.68192	0.956	T	0.38564	-0.9655	10	0.54805	T	0.06	.	5.1188	0.14849	0.0:0.8305:0.0:0.1695	.	2	P29017	CD1C_HUMAN	M	2	ENSP00000357152:L2M	ENSP00000357151:L2M	L	+	1	2	CD1C	156526482	0.557000	0.26546	0.462000	0.27118	0.122000	0.20287	0.177000	0.16801	0.576000	0.29452	0.549000	0.68633	CTG		0.438	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		20	46	1	0	5.26018e-13	1	5.6168e-13	20	46					A	158259858	C	A	158259858	3	1	457	1	0	0	0	0	1	0	0	0	2976	796	28	5	6	5	CD1C	1	158259858	Missense_Mutation	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08	8387921	158259858	90990763	4	31144											
OR10R2	343406	broad.mit.edu	37	chr1	158450659	158450659	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgggcaagaaaggttctcTaaaactatataattgaaata	17	12	8	4	0	1	2	0	1	1	1	2	2	1	2	0	2	1	3	0	2	9	8			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr1:158450659T>G	ENST00000368152.1	+	1	992	c.992T>G	c.(991-993)cTa>cGa	p.L331R	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	331						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AAAGGTTCTCTAAAACTATAT	0.294																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(991-993)cTa>cGa		olfactory receptor, family 10, subfamily R, member 2							37	37	37					1																	158450659		2203	4298	6501	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450659T>G	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.992T>G	1.37:g.158450659T>G	ENSP00000357134:p.Leu331Arg					RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	p.L331R	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	992	+	all_hematologic(112;0.0378)		331					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.992T>G	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	t	1.060	-0.673312	0.03403	.	.	ENSG00000198965	ENST00000368152	T	0.00007	9.68	3.34	3.34	0.38264	.	.	.	.	.	T	0.00039	0.0001	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.39563	-0.9608	9	0.32370	T	0.25	.	5.3158	0.15854	0.0:0.1269:0.0:0.8731	.	331	Q8NGX6	O10R2_HUMAN	R	331	ENSP00000357134:L331R	ENSP00000357134:L331R	L	+	2	0	OR10R2	156717283	0.808000	0.29022	0.081000	0.20488	0.155000	0.21991	1.578000	0.36525	1.735000	0.51646	0.533000	0.62120	CTA		0.294	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		12	35	0	0	0	1	0	12	35					G	158450659	T	G	158450659	3	3	457	1	0	0	0	0	1	0	0	0	10917	1522	53	5	994	5	OR10R2	1	158450659	Missense_Mutation	SNP	T	TCGA-YL-A8SC-01A-11D-A377-08	190801	158450659	90799962	5	31145											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10915197	10915197	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgataagaagcaacagtaTgtgagtatgtgattgagcag	14	11	12	4	0	1	5	0	4	1	1	1	5	1	5	0	0	3	4	0	0	5	4			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:10915197T>A	ENST00000272238.4	+	10	934	c.825T>A	c.(823-825)taT>taA	p.Y275*	ATP6V1C2_ENST00000381661.3_Splice_Site_p.Y275*	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	275					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			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)		AGCAACAGTATGTGAGTATGT	0.498																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000381661.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.e10+1		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2							144	145	145					2																	10915197		2203	4300	6503	SO:0001630	splice_region_variant	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10915197T>A	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"ATPases / V-type"	18264	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.825+1T>A	2.37:g.10915197T>A						ATP6V1C2_ENST00000272238.4_Splice_Site_p.Y275_splice	p.Y275_splice	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	10	934	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		275					Q96EL8	Splice_Site	SNP	ENST00000272238.4	37	c.825_splice	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.445935	0.84101	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	.	.	.	5.46	4.3	0.51218	.	0.133396	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-2.6702	11.4521	0.50158	0.0:0.071:0.0:0.929	.	.	.	.	X	275	.	ENSP00000272238:Y275X	Y	+	3	2	ATP6V1C2	10832648	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	4.285000	0.58989	0.914000	0.36822	0.402000	0.26972	TAT		0.498	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583	Nonsense_Mutation	11	32	0	0	0	1	0	11	32					A	10915197	T	A	10915197	5	1	457	1	0	0	0	0	0	0	1	0	1181	1478	51	5	859	5	ATP6V1C2	2	10915197	Splice_Site	SNP	T	TCGA-YL-A8SC-01A-11D-A377-08		10915197	232284176	6	31146											
ASXL2	55252	broad.mit.edu	37	chr2	25972970	25972979	+	Frame_Shift_Del	DEL	ATCCTTTGGG	ATCCTTTGGG	-																															ttctgctccaagagatcctcAtcctttgggcacttgatggg																								rs539459100	byFrequency	TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:25972970_25972979delATCCTTTGGG	ENST00000435504.4	-	12	1739_1748	c.1446_1455delCCCAAAGGAT	c.(1444-1455)tgcccaaaggatfs	p.CPKD482fs	ASXL2_ENST00000272341.4_Frame_Shift_Del_p.CPKD222fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.CPKD222fs|ASXL2_ENST00000336112.4_Frame_Shift_Del_p.CPKD454fs			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	482					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			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)					AGAGATCCTCATCCTTTGGGCACTTGATGG	0.481																																						ENST00000435504.4																			0				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						c.(1444-1455)tgfs		additional sex combs like 2 (Drosophila)																																				SO:0001589	frameshift_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25972970_25972979delATCCTTTGGG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1446_1455delCCCAAAGGAT	2.37:g.25972970_25972979delATCCTTTGGG	ENSP00000391447:p.Cys482fs					ASXL2_ENST00000336112.4_Frame_Shift_Del_p.CPKD454fs|ASXL2_ENST00000272341.4_Frame_Shift_Del_p.CPKD222fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.CPKD222fs	p.CPKD482fs			Q76L83	ASXL2_HUMAN			12	1739_1748	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		482					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Frame_Shift_Del	DEL	ENST00000435504.4	37	c.1446_1455delCCCAAAGGAT																																																																																					0.481	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		29	110						29	110	---	---	---	---	-	25972979	ATCCTTTGGG	-	25972970	7	5	457	1	0	1	0	1	0	0	0	0	1067	214	8	0	2860	0	ASXL2	2	25972970	Frame_Shift_Del	DEL	ATCCTTTGGG	TCGA-YL-A8SC-01A-11D-A377-08	15057773	25972970	217226403	7	31147											
CCDC104	112942	broad.mit.edu	37	chr2	55761032	55761032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattacctgactgcttaaccGatggctctgatgtggtcagt	8	14	10	9	1	2	2	1	2	1	0	2	3	2	2	2	2	3	2	2	2	3	3			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:55761032G>A	ENST00000349456.4	+	5	569	c.421G>A	c.(421-423)Gat>Aat	p.D141N	CCDC104_ENST00000406691.3_Missense_Mutation_p.D141N|CCDC104_ENST00000490934.1_3'UTR|CCDC104_ENST00000339012.3_Missense_Mutation_p.D166N|CCDC104_ENST00000403007.3_Missense_Mutation_p.D141N|CCDC104_ENST00000407816.3_Missense_Mutation_p.D141N			Q96G28	CFA36_HUMAN		141										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)			CTGCTTAACCGATGGCTCTGA	0.358																																						ENST00000349456.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14						c.(421-423)Gat>Aat		coiled-coil domain containing 104							134	130	131					2																	55761032		2203	4300	6503	SO:0001583	missense	112942							g.chr2:55761032G>A																												ENST00000349456.4:c.421G>A	2.37:g.55761032G>A	ENSP00000295117:p.Asp141Asn					CCDC104_ENST00000490934.1_3'UTR|CCDC104_ENST00000339012.3_Missense_Mutation_p.D166N|CCDC104_ENST00000407816.3_Missense_Mutation_p.D141N|CCDC104_ENST00000406691.3_Missense_Mutation_p.D141N|CCDC104_ENST00000403007.3_Missense_Mutation_p.D141N	p.D141N			Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		5	569	+			141					Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	c.421G>A	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873600	0.72180	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.34859	2.03;1.35;2.03;2.12;1.34	6.16	6.16	0.99307	.	0.145792	0.64402	D	0.000009	T	0.23210	0.0561	N	0.12961	0.28	0.58432	D	0.999998	D;P	0.55172	0.97;0.535	B;B	0.37650	0.255;0.09	T	0.02860	-1.1101	10	0.26408	T	0.33	.	19.0403	0.92995	0.0:0.0:1.0:0.0	.	141;166	Q96G28;Q96G28-2	CC104_HUMAN;.	N	166;141;141;141;141	ENSP00000342699:D166N;ENSP00000385400:D141N;ENSP00000295117:D141N;ENSP00000385376:D141N;ENSP00000385972:D141N	ENSP00000342699:D166N	D	+	1	0	CCDC104	55614536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.667000	0.54547	2.937000	0.99478	0.650000	0.86243	GAT		0.358	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			3	54	0	0	0	1	0	3	54					A	55761032	G	A	55761032	3	1	457	1	0	0	0	0	1	0	0	0	2739	1058	37	2	439	2	CCDC104	2	55761032	Missense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08	29788062	55761032	187438341	8	31148											
CCDC85A	114800	broad.mit.edu	37	chr2	56420172	56420172	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcactcaaaggacctagcccGgagcaccacaaacccttgtg	12	5	9	15	1	1	0	1	0	0	0	1	2	1	2	4	2	3	2	4	2	3	2			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:56420172G>A	ENST00000407595.2	+	2	1339	c.837G>A	c.(835-837)ccG>ccA	p.P279P	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	279	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)			GACCTAGCCCGGAGCACCACA	0.637																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(835-837)ccG>ccA		coiled-coil domain containing 85A							55	70	65					2																	56420172		2041	4192	6233	SO:0001819	synonymous_variant	114800							g.chr2:56420172G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.837G>A	2.37:g.56420172G>A						RP11-482H16.1_ENST00000607540.1_RNA	p.P279P	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1339	+			279			His-rich.			Silent	SNP	ENST00000407595.2	37	c.837G>A	CCDS46290.1																																																																																				0.637	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			18	41	0	0	0	1	0	18	41					A	56420172	G	A	56420172	2	1	457	1	0	0	0	0	0	0	0	1	2859	1103	39	2		2	CCDC85A	2	56420172	Silent	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08	659140	56420172	186779201	9	31149											
KRCC1	51315	broad.mit.edu	37	chr2	88327466	88327466	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttctgtactgacatgtacgGtttctatttccacctctgtt	6	19	6	10	1	3	1	0	1	3	0	4	1	4	1	2	1	2	4	2	1	3	7			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:88327466G>C	ENST00000347055.3	-	4	1010	c.617C>G	c.(616-618)aCc>aGc	p.T206S		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	206	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						GACATGTACGGTTTCTATTTC	0.383																																						ENST00000347055.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(616-618)aCc>aGc		lysine-rich coiled-coil 1							150	161	158					2																	88327466		2203	4300	6503	SO:0001583	missense	51315							g.chr2:88327466G>C	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.617C>G	2.37:g.88327466G>C	ENSP00000340083:p.Thr206Ser						p.T206S	NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN			4	1010	-			206			Lys-rich.		Q3B7J7	Missense_Mutation	SNP	ENST00000347055.3	37	c.617C>G	CCDS2000.1	.	.	.	.	.	.	.	.	.	.	G	7.506	0.653594	0.14580	.	.	ENSG00000172086	ENST00000347055	T	0.33438	1.41	2.14	2.14	0.27477	.	0.637169	0.12288	U	0.482222	T	0.26484	0.0647	L	0.40543	1.245	0.09310	N	1	P	0.49961	0.93	P	0.47102	0.537	T	0.07385	-1.0775	10	0.16420	T	0.52	-20.9974	7.8418	0.29403	0.0:0.0:1.0:0.0	.	206	Q9NPI7	KRCC1_HUMAN	S	206	ENSP00000340083:T206S	ENSP00000340083:T206S	T	-	2	0	KRCC1	88108581	0.002000	0.14202	0.509000	0.27700	0.788000	0.44548	0.642000	0.24735	1.511000	0.48818	0.650000	0.86243	ACC		0.383	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		64	145	0	0	0	1	0	64	145					C	88327466	G	C	88327466	3	2	457	1	0	0	0	0	1	0	0	0	8441	1261	44	5	166	5	KRCC1	2	88327466	Missense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08	31907294	88327466	154871907	10	31150											
LRP1B	53353	broad.mit.edu	37	chr2	140995791	140995791	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcatgatctacctcatacAtgttataagatggattgcca	13	13	7	8	0	3	2	2	1	1	1	3	4	3	3	2	1	3	1	2	1	4	5			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:140995791A>G	ENST00000389484.3	-	89	14461	c.13490T>C	c.(13489-13491)aTg>aCg	p.M4497T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4497					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			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)		TACCTCATACATGTTATAAGA	0.338										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(13489-13491)aTg>aCg		low density lipoprotein receptor-related protein 1B							198	185	189					2																	140995791		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140995791A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13490T>C	2.37:g.140995791A>G	ENSP00000374135:p.Met4497Thr	TSP Lung(27;0.18)					p.M4497T	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		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)	89	14461	-		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)	4497					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13490T>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.58|17.58	3.424037|3.424037	0.62733|0.62733	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977;ENST00000442974|ENST00000389484;ENST00000544579	.|T	.|0.40756	.|1.02	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.43478|0.43478	0.1249|0.1249	M|M	0.67397|0.67397	2.05|2.05	0.47476|0.47476	D|D	0.999431|0.999431	.|P	.|0.35433	.|0.501	.|B	.|0.30646	.|0.118	T|T	0.47711|0.47711	-0.9096|-0.9096	5|10	.|0.72032	.|D	.|0.01	.|.	16.1667|16.1667	0.81768|0.81768	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|4497	.|Q9NZR2	.|LRP1B_HUMAN	R|T	729;267|4497;4435	.|ENSP00000374135:M4497T	.|ENSP00000374135:M4497T	C|M	-|-	1|2	0|0	LRP1B|LRP1B	140712261|140712261	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	8.730000|8.730000	0.91510|0.91510	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	TGT|ATG		0.338	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	41	0	0	0	1	0	13	41					G	140995791	A	G	140995791	3	3	457	1	0	0	0	0	1	0	0	0	8955	217	8	4	321	4	LRP1B	2	140995791	Missense_Mutation	SNP	A	TCGA-YL-A8SC-01A-11D-A377-08	52668325	140995791	102203582	11	31151											
FARP2	9855	broad.mit.edu	37	chr2	242373670	242373670	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatcacaccttttttagacTtttggaccaacctaagccaa	12	13	5	11	0	1	1	1	0	0	1	1	2	1	2	4	1	2	1	4	1	5	7			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:242373670T>G	ENST00000264042.3	+	10	1135	c.965T>G	c.(964-966)cTt>cGt	p.L322R	FARP2_ENST00000545004.1_Missense_Mutation_p.L322R|FARP2_ENST00000373287.4_Missense_Mutation_p.L322R	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	322	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TTTTTTAGACTTTTGGACCAA	0.478																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(964-966)cTt>cGt		FERM, RhoGEF and pleckstrin domain protein 2							130	134	133					2																	242373670		2203	4300	6503	SO:0001583	missense	9855				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	g.chr2:242373670T>G	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.965T>G	2.37:g.242373670T>G	ENSP00000264042:p.Leu322Arg					FARP2_ENST00000545004.1_Missense_Mutation_p.L322R|FARP2_ENST00000373287.4_Missense_Mutation_p.L322R	p.L322R	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		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)	10	1135	+		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)	322			FERM.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.965T>G	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.294604	0.81025	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000413432	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-1.68	5.2	5.2	0.72013	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.078401	0.48767	D	0.000166	D	0.94676	0.8283	M	0.90977	3.165	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.997	D	0.95778	0.8814	10	0.87932	D	0	.	15.0632	0.71970	0.0:0.0:0.0:1.0	.	322;322;322	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	R	322;322;322;9	ENSP00000264042:L322R;ENSP00000443876:L322R;ENSP00000362384:L322R;ENSP00000412772:L9R	ENSP00000264042:L322R	L	+	2	0	FARP2	242022343	0.999000	0.42202	0.103000	0.21229	0.973000	0.67179	7.748000	0.85085	1.956000	0.56807	0.455000	0.32223	CTT		0.478	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			6	77	0	0	0	1	0	6	77					G	242373670	T	G	242373670	3	3	457	1	0	0	0	0	1	0	0	0	5677	1609	56	5	999	5	FARP2	2	242373670	Missense_Mutation	SNP	T	TCGA-YL-A8SC-01A-11D-A377-08	101377879	242373670	825703	12	31152											
PLXND1	23129	broad.mit.edu	37	chr3	129290379	129290379	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccggccaatgtggtggacGgccatggacacattctgcac	8	8	12	13	2	1	0	0	0	1	0	2	2	2	2	3	5	1	1	3	5	1	1			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr3:129290379G>A	ENST00000324093.4	-	17	3487	c.3309C>T	c.(3307-3309)gcC>gcT	p.A1103A	PLXND1_ENST00000393239.1_Silent_p.A1103A	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1103	IPT/TIG 3.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.A1103A(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGTGGTGGACGGCCATGGACA	0.647																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	1	Substitution - coding silent(1)	p.A1103A(1)	lung(1)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(3307-3309)gcC>gcT		plexin D1							52	54	53					3																	129290379		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129290379G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3309C>T	3.37:g.129290379G>A						PLXND1_ENST00000324093.4_Silent_p.A1103A	p.A1103A			Q9Y4D7	PLXD1_HUMAN			17	3487	-			1103			IPT/TIG 3.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.3309C>T	CCDS33854.1																																																																																				0.647	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		16	44	0	0	0	1	0	16	44					A	129290379	G	A	129290379	2	1	457	1	0	0	0	0	0	0	0	1	12127	1103	39	2		2	PLXND1	3	129290379	Silent	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08		129290379	68732051	13	31153											
EHHADH	1962	broad.mit.edu	37	chr3	184910915	184910915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaatgaccaagtgaggaCgatcagtggaagaagcaatc	15	6	12	8	1	1	3	1	2	0	1	2	6	1	5	2	2	2	1	2	2	5	0	rs202021589		TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr3:184910915C>T	ENST00000231887.3	-	7	1346	c.1271G>A	c.(1270-1272)cGt>cAt	p.R424H	EHHADH_ENST00000456310.1_Missense_Mutation_p.R328H|EHHADH-AS1_ENST00000417720.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	424	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			CAAGTGAGGACGATCAGTGGA	0.473																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(1270-1272)cGt>cAt		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	139	131	133		983,1271	4.1	0.3	3		133	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	EHHADH	NM_001166415.1,NM_001966.3	29,29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	possibly-damaging,possibly-damaging	328/628,424/724	184910915	4,13002	2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910915C>T	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1271G>A	3.37:g.184910915C>T	ENSP00000231887:p.Arg424His					EHHADH_ENST00000456310.1_Missense_Mutation_p.R328H	p.R424H	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	1346	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		424			3-hydroxyacyl-CoA dehydrogenase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.1271G>A	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893302	0.33442	0.0	4.65E-4	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	T;T	0.78246	-1.16;-1.16	6.08	4.08	0.47627	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.202789	0.43416	D	0.000569	T	0.66867	0.2833	L	0.35593	1.075	0.26413	N	0.976231	B	0.27997	0.197	B	0.22880	0.042	T	0.64179	-0.6468	10	0.72032	D	0.01	-8.9946	12.3076	0.54910	0.0:0.824:0.0:0.176	.	424	Q08426	ECHP_HUMAN	H	424;424;328	ENSP00000231887:R424H;ENSP00000387746:R328H	ENSP00000231887:R424H	R	-	2	0	EHHADH	186393609	0.032000	0.19561	0.317000	0.25265	0.948000	0.59901	1.407000	0.34657	1.586000	0.49944	0.591000	0.81541	CGT		0.473	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			19	60	0	0	0	1	0	19	60					T	184910915	C	T	184910915	3	4	457	1	0	0	0	0	1	0	0	0	4982	536	19	1	904	1	EHHADH	3	184910915	Missense_Mutation	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08	55620536	184910915	13111515	14	31154											
LRRC15	131578	broad.mit.edu	37	chr3	194080233	194080233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtcagatcagtgtagtCttccacagggctggttagct	8	12	13	8	0	3	1	2	0	1	1	4	1	4	1	1	3	1	5	1	3	3	4			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr3:194080233C>A	ENST00000347624.3	-	2	1625	c.1540G>T	c.(1540-1542)Gac>Tac	p.D514Y	LRRC15_ENST00000439944.2_Missense_Mutation_p.D520Y|LRRC15_ENST00000428839.1_Missense_Mutation_p.D520Y	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	514					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TCAGTGTAGTCTTCCACAGGG	0.557																																						ENST00000347624.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1540-1542)Gac>Tac		leucine rich repeat containing 15							156	151	153					3																	194080233		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194080233C>A	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1540G>T	3.37:g.194080233C>A	ENSP00000306276:p.Asp514Tyr					LRRC15_ENST00000439944.2_Missense_Mutation_p.D520Y|LRRC15_ENST00000428839.1_Missense_Mutation_p.D520Y	p.D514Y	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	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)	2	1625	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		514					Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.1540G>T	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	C	6.476	0.455983	0.12283	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.58060	0.36;0.41;0.41	5.43	4.56	0.56223	.	0.326278	0.28933	N	0.013665	T	0.47525	0.1450	N	0.24115	0.695	0.21220	N	0.999751	P;P	0.51537	0.91;0.946	P;P	0.55999	0.498;0.789	T	0.32295	-0.9912	10	0.11182	T	0.66	.	10.7469	0.46185	0.0:0.8486:0.0:0.1514	.	514;520	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	Y	514;520;520	ENSP00000306276:D514Y;ENSP00000389128:D520Y;ENSP00000413707:D520Y	ENSP00000306276:D514Y	D	-	1	0	LRRC15	195561528	0.030000	0.19436	0.692000	0.30179	0.080000	0.17528	1.375000	0.34295	1.455000	0.47813	0.655000	0.94253	GAC		0.557	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			12	32	1	0	1.08611e-07	1	1.12172e-07	12	32					A	194080233	C	A	194080233	3	1	457	1	0	0	0	0	1	0	0	0	8970	913	32	5	209	5	LRRC15	3	194080233	Missense_Mutation	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08	9169318	194080233	3942197	15	31155											
C3orf21	152002	broad.mit.edu	37	chr3	194991542	194991542	+	Frame_Shift_Del	DEL	G	G	-																															aagctcttggccttcgcgccGggggctggcgccacggagcc																										TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr3:194991542delG	ENST00000310380.6	-	1	354	c.246delC	c.(244-246)cccfs	p.P82fs		NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	82						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										CCTTCGCGCCGGGGGCTGGCG	0.751																																						ENST00000310380.6																			0											c.(244-246)ccfs		xyloside xylosyltransferase 1							4	4	4					3																	194991542		1591	3590	5181	SO:0001589	frameshift_variant	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194991542delG	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"Glycosyltransferase family 8 domain containing"	26639	protein-coding gene	gene with protein product		614552	"chromosome 3 open reading frame 21"	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.246delC	3.37:g.194991542delG	ENSP00000309640:p.Pro82fs						p.P82fs	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN			1	354	-			82					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Frame_Shift_Del	DEL	ENST00000310380.6	37	c.246delC	CCDS43188.1																																																																																				0.751	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		2	4						2	4	---	---	---	---	-	194991542	G	-	194991542	7	5	457	1	0	1	0	1	0	0	0	0	2214	1103	39	0	951	0	C3orf21	3	194991542	Frame_Shift_Del	DEL	G	TCGA-YL-A8SC-01A-11D-A377-08	911309	194991542	3030888	16	31156											
TACC3	10460	broad.mit.edu	37	chr4	1742673	1742673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctccgacctcttcaagcGttttgagaaacagaaagagg	12	10	9	10	2	3	3	1	1	2	3	4	5	3	3	2	1	2	1	2	1	3	4			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr4:1742673G>A	ENST00000313288.4	+	13	2289	c.2183G>A	c.(2182-2184)cGt>cAt	p.R728H		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	728					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.F726fs*87(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)			CTCTTCAAGCGTTTTGAGAAA	0.493																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			1	Deletion - Frameshift(1)	p.F726fs*87(1)	ovary(1)	central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(2182-2184)cGt>cAt		transforming, acidic coiled-coil containing protein 3							94	94	94					4																	1742673		2203	4300	6503	SO:0001583	missense	10460					centrosome		g.chr4:1742673G>A	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.2183G>A	4.37:g.1742673G>A	ENSP00000326550:p.Arg728His						p.R728H	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		13	2289	+		Breast(71;0.212)|all_epithelial(65;0.241)	728					Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.2183G>A	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062914	0.55432	.	.	ENSG00000013810	ENST00000313288	T	0.54279	0.58	4.88	3.11	0.35812	.	0.319538	0.21285	N	0.077094	T	0.73776	0.3630	M	0.89715	3.055	0.47214	D	0.999355	D;B	0.89917	1.0;0.386	D;B	0.67231	0.95;0.146	T	0.78590	-0.2145	10	0.72032	D	0.01	-10.9388	11.2092	0.48788	0.1552:0.0:0.8448:0.0	.	728;728	Q2NKK4;Q9Y6A5	.;TACC3_HUMAN	H	728	ENSP00000326550:R728H	ENSP00000326550:R728H	R	+	2	0	TACC3	1712471	1.000000	0.71417	0.642000	0.29436	0.196000	0.23810	5.924000	0.70054	1.285000	0.44548	0.650000	0.86243	CGT		0.493	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			8	102	0	0	0	1	0	8	102					A	1742673	G	A	1742673	3	1	457	1	0	0	0	0	1	0	0	0	15500	1145	40	1	2229	1	TACC3	4	1742673	Missense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08		1742673	189411603	17	31157											
NMU	10874	broad.mit.edu	37	chr4	56471442	56471442	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagtttgtattacatacGtccactctgaatctcttcat	10	16	5	10	1	3	1	1	1	2	0	5	1	4	1	1	0	3	3	1	0	4	5	rs141279583		TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr4:56471442G>A	ENST00000264218.3	-	7	540	c.435C>T	c.(433-435)gaC>gaT	p.D145D	NMU_ENST00000505262.1_Splice_Site_p.D118D|NMU_ENST00000511469.1_Splice_Site_p.D129D|NMU_ENST00000515325.1_5'UTR|NMU_ENST00000507338.1_Intron	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	145					digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)			lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		TATTACATACGTCCACTCTGA	0.493																																						ENST00000264218.3																			0				lung(3)|ovary(1)|urinary_tract(1)	5						c.e7+1		neuromedin U		G		0,4406		0,0,2203	154	133	140		435	2.2	0.1	4	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	NMU	NM_006681.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		145/175	56471442	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	10874				neuropeptide signaling pathway	extracellular region		g.chr4:56471442G>A	X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"Endogenous ligands"	7859	protein-coding gene	gene with protein product	"prepro-NMU"	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.435+1C>T	4.37:g.56471442G>A						NMU_ENST00000505262.1_Splice_Site_p.D118_splice|NMU_ENST00000507338.1_Intron|NMU_ENST00000511469.1_Splice_Site_p.D129_splice|NMU_ENST00000515325.1_5'UTR	p.D145_splice	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)	7	540	-	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	145						Splice_Site	SNP	ENST00000264218.3	37	c.435_splice	CCDS3501.1																																																																																				0.493	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220006.2		Silent	8	46	0	0	0	1	0	8	46					A	56471442	G	A	56471442	5	1	457	1	0	0	0	0	0	0	1	0	10505	1159	40	1	101	1	NMU	4	56471442	Splice_Site	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08	54728769	56471442	134682834	18	31158											
NLN	57486	broad.mit.edu	37	chr5	65077143	65077143	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagacagatgatgacaagtaTaaaattaccttaaaatatcc	20	10	5	6	0	0	4	0	2	0	2	1	4	1	4	2	0	1	1	2	0	9	5			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr5:65077143T>C	ENST00000380985.5	+	6	895	c.717T>C	c.(715-717)taT>taC	p.Y239Y	NLN_ENST00000502464.1_Silent_p.Y135Y	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	239						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ATGACAAGTATAAAATTACCT	0.338																																						ENST00000380985.5																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(715-717)taT>taC		neurolysin (metallopeptidase M3 family)							83	85	84					5																	65077143		2203	4298	6501	SO:0001819	synonymous_variant	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65077143T>C	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.717T>C	5.37:g.65077143T>C						NLN_ENST00000502464.1_Silent_p.Y135Y	p.Y239Y	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	6	895	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	239					Q9ULJ4	Silent	SNP	ENST00000380985.5	37	c.717T>C	CCDS3989.1																																																																																				0.338	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			12	52	0	0	0	1	0	12	52					C	65077143	T	C	65077143	2	2	457	1	0	0	0	0	0	0	0	1	10467	1413	49	4		4	NLN	5	65077143	Silent	SNP	T	TCGA-YL-A8SC-01A-11D-A377-08		65077143	115838117	19	31159											
RAPGEF6	51735	broad.mit.edu	37	chr5	130841188	130841188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactgatttccacagtgcCgtttaaaataacataccatg	14	12	6	9	1	0	2	0	2	0	0	1	2	1	2	3	0	3	1	3	0	4	5			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr5:130841188C>T	ENST00000509018.1	-	10	1175	c.970G>A	c.(970-972)Ggc>Agc	p.G324S	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.G324S|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.G324S|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.G374S|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.G324S|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.G324S|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.G324S|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.G39S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	324					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCCACAGTGCCGTTTAAAATA	0.323																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(970-972)Ggc>Agc		Rap guanine nucleotide exchange factor (GEF) 6							68	65	66					5																	130841188		2203	4300	6503	SO:0001583	missense	51735				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	g.chr5:130841188C>T	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.970G>A	5.37:g.130841188C>T	ENSP00000421684:p.Gly324Ser					RAPGEF6_ENST00000308008.6_Missense_Mutation_p.G324S|FNIP1_ENST00000514667.1_Missense_Mutation_p.G374S|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.G324S|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.G324S|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.G39S|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.G324S|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.G324S	p.G324S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	10	1175	-			324					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.970G>A	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313123	0.95655	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000513227;ENST00000514667	D;D;D;D;D;D;D;D;D	0.99822	-6.33;-6.33;-6.33;-6.33;-6.94;-6.33;-6.33;-6.33;-6.33	5.67	5.67	0.87782	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97090	0.9790	10	0.87932	D	0	.	19.7725	0.96373	0.0:1.0:0.0:0.0	.	324;324;324;39;374;324;324	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	S	324;324;324;324;324;39;324;324;152;374	ENSP00000421684:G324S;ENSP00000309298:G324S;ENSP00000426081:G324S;ENSP00000296859:G324S;ENSP00000426910:G39S;ENSP00000311419:G324S;ENSP00000425389:G324S;ENSP00000424574:G152S;ENSP00000426948:G374S	ENSP00000426948:G374S	G	-	1	0	RAPGEF6;FNIP1	130869087	1.000000	0.71417	0.969000	0.41365	0.921000	0.55340	7.818000	0.86416	2.673000	0.90976	0.467000	0.42956	GGC		0.323	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		14	37	0	0	0	1	0	14	37					T	130841188	C	T	130841188	3	4	457	1	0	0	0	0	1	0	0	0	13048	652	23	2	4397	2	RAPGEF6	5	130841188	Missense_Mutation	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08	65764045	130841188	50074072	20	31160											
CPNE5	57699	broad.mit.edu	37	chr6	36767773	36767773	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggaggttctgcttctcctcGaaaaagtaatccacaatgaa	13	10	8	10	2	2	1	0	1	2	0	5	3	3	2	2	2	1	3	2	2	5	3			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr6:36767773G>A	ENST00000244751.2	-	4	882	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	86	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCTTCTCCTCGAAAAAGTAAT	0.517																																						ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(256-258)ttC>ttT		copine V							95	82	86					6																	36767773		2203	4300	6503	SO:0001819	synonymous_variant	57699							g.chr6:36767773G>A	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.258C>T	6.37:g.36767773G>A							p.F86F	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN			4	882	-			86			C2 1.		Q7Z6C8	Silent	SNP	ENST00000244751.2	37	c.258C>T	CCDS4825.1																																																																																				0.517	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		9	33	0	0	0	1	0	9	33					A	36767773	G	A	36767773	2	1	457	1	0	0	0	0	0	0	0	1	3815	1049	37	2		2	CPNE5	6	36767773	Silent	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08		36767773	134347294	21	31161											
TSPYL4	23270	broad.mit.edu	37	chr6	116574801	116574801	+	Frame_Shift_Del	DEL	C	C	-																															gagccttctgcccagcagggCcacggggctctccaagctga																										TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr6:116574801delC	ENST00000420283.1	-	1	460	c.371delG	c.(370-372)ggcfs	p.G124fs	RP3-486I3.7_ENST00000448740.2_lincRNA|DSE_ENST00000540275.1_5'Flank	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	124					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		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)		CCCAGCAGGGCCACGGGGCTC	0.597																																						ENST00000420283.1																			0				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11						c.(370-372)gcfs		TSPY-like 4							13	12	12					6																	116574801		1835	3965	5800	SO:0001589	frameshift_variant	23270				nucleosome assembly	nucleus		g.chr6:116574801delC		CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.371delG	6.37:g.116574801delC	ENSP00000410943:p.Gly124fs						p.G124fs	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)	1	460	-		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)	124					B4DYQ2|O94828|Q96GW8	Frame_Shift_Del	DEL	ENST00000420283.1	37	c.371delG	CCDS5106.1																																																																																				0.597	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041934.2			2	4						2	4	---	---	---	---	-	116574801	C	-	116574801	7	5	457	1	0	1	0	1	0	0	0	0	16658	739	26	0	877	0	TSPYL4	6	116574801	Frame_Shift_Del	DEL	C	TCGA-YL-A8SC-01A-11D-A377-08	79807028	116574801	54540266	22	31162											
H2AFV	94239	broad.mit.edu	37	chr7	44874154	44874154	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agagatttgtggatgtgaggGatcacacctagaatgaaatt	14	11	12	4	0	1	4	1	2	0	2	1	7	1	6	1	2	0	0	1	2	3	3			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr7:44874154G>C	ENST00000308153.4	-	5	424	c.333C>G	c.(331-333)atC>atG	p.I111M	H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000521529.1_3'UTR|H2AFV_ENST00000350771.3_Missense_Mutation_p.I85M|H2AFV_ENST00000381124.5_3'UTR|H2AFV_ENST00000349299.3_Missense_Mutation_p.I73M|H2AFV_ENST00000222690.6_Intron	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	111						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						GGATGTGAGGGATCACACCTA	0.333																																						ENST00000308153.4																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						c.(331-333)atC>atG		H2A histone family, member V							78	69	72					7																	44874154		2203	4300	6503	SO:0001583	missense	94239				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr7:44874154G>C	AF081192	CCDS5495.1, CCDS5496.1, CCDS5497.1, CCDS5498.1, CCDS47581.1	7p13	2011-01-27		2004-03-26	ENSG00000105968	ENSG00000105968		"Histones / Replication-independent"	20664	protein-coding gene	gene with protein product				H2AV			Standard	NM_012412		Approved	MGC10170, MGC10831, MGC1947	uc003tma.2	Q71UI9	OTTHUMG00000129217	ENST00000308153.4:c.333C>G	7.37:g.44874154G>C	ENSP00000308405:p.Ile111Met					H2AFV_ENST00000381124.5_3'UTR|H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000350771.3_Missense_Mutation_p.I85M|H2AFV_ENST00000349299.3_Missense_Mutation_p.I73M|H2AFV_ENST00000222690.6_Intron|H2AFV_ENST00000521529.1_3'UTR	p.I111M	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN			5	424	-			111					A6NFA8|A6NKY0|A6NN01|A8MQC5|Q59GV8|Q6PK98	Missense_Mutation	SNP	ENST00000308153.4	37	c.333C>G	CCDS5496.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.122631	0.56613	.	.	ENSG00000105968	ENST00000349299;ENST00000308153;ENST00000350771	T;D;T	0.83591	0.83;-1.74;0.85	5.67	1.24	0.21308	Histone-fold (1);Histone H2A (2);	.	.	.	.	D	0.84238	0.5428	M	0.70108	2.13	0.80722	D	1	P;P;P	0.49862	0.726;0.458;0.929	P;B;P	0.51487	0.671;0.23;0.5	T	0.82279	-0.0536	9	0.62326	D	0.03	-9.5729	8.5561	0.33483	0.432:0.0:0.568:0.0	.	85;73;111	A6NKY0;A6NFA8;Q71UI9	.;.;H2AV_HUMAN	M	73;111;85	ENSP00000342714:I73M;ENSP00000308405:I111M;ENSP00000340708:I85M	ENSP00000308405:I111M	I	-	3	3	H2AFV	44840679	0.894000	0.30519	1.000000	0.80357	0.992000	0.81027	0.057000	0.14279	0.318000	0.23185	0.561000	0.74099	ATC		0.333	H2AFV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251305.1	NM_012412		6	43	0	0	0	1	0	6	43					C	44874154	G	C	44874154	3	2	457	1	0	0	0	0	1	0	0	0	6927	1164	41	5	81	5	H2AFV	7	44874154	Missense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08		44874154	114264509	23	31163											
KIAA1324L	222223	broad.mit.edu	37	chr7	86537841	86537841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatattaatatttttcaatGtggtttcaactgtgactcct	10	20	5	6	0	2	1	2	1	0	0	3	1	3	1	1	1	1	1	1	1	6	7			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr7:86537841G>A	ENST00000450689.2	-	17	2563	c.2378C>T	c.(2377-2379)aCa>aTa	p.T793I	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T626I|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T553I|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T722I	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	793						integral component of membrane (GO:0016021)				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)					ATTTTTCAATGTGGTTTCAAC	0.303																																						ENST00000450689.2																			0				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						c.(2377-2379)aCa>aTa		KIAA1324-like							83	90	88					7																	86537841		2202	4290	6492	SO:0001583	missense	222223					integral to membrane		g.chr7:86537841G>A	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2378C>T	7.37:g.86537841G>A	ENSP00000413445:p.Thr793Ile					KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T553I|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T722I|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T626I	p.T793I	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			17	2563	-	Esophageal squamous(14;0.0058)		793					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2378C>T	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080552	0.36662	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.03920	3.76;3.76;3.76;3.76	5.8	5.8	0.92144	Mannose-6-phosphate receptor, binding (1);	0.472558	0.24198	N	0.040643	T	0.05364	0.0142	L	0.36672	1.1	0.31724	N	0.637875	B;B;B	0.18741	0.03;0.01;0.006	B;B;B	0.15484	0.013;0.005;0.005	T	0.06285	-1.0835	10	0.33940	T	0.23	.	12.3	0.54868	0.0848:0.0:0.9152:0.0	.	793;553;626	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	I	793;553;722;626	ENSP00000413445:T793I;ENSP00000297222:T553I;ENSP00000397377:T722I;ENSP00000402390:T626I	ENSP00000297222:T553I	T	-	2	0	KIAA1324L	86375777	1.000000	0.71417	0.981000	0.43875	0.962000	0.63368	2.032000	0.41127	2.744000	0.94065	0.655000	0.94253	ACA		0.303	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		22	34	0	0	0	1	0	22	34					A	86537841	G	A	86537841	3	1	457	1	0	0	0	0	1	0	0	0	8224	1377	48	3	735	3	KIAA1324L	7	86537841	Missense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08	41663687	86537841	72600822	24	31164											
ZKSCAN1	7586	broad.mit.edu	37	chr7	99631486	99631486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatctcatcctccatcagcGcatccactctggagagaaac	12	8	6	15	1	3	1	2	0	2	1	7	3	6	2	3	1	2	1	3	1	2	0			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr7:99631486G>A	ENST00000324306.6	+	6	1592	c.1358G>A	c.(1357-1359)cGc>cAc	p.R453H	ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.R240H|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.R417H	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R453H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CTCCATCAGCGCATCCACTCT	0.522																																						ENST00000324306.6																			1	Substitution - Missense(1)	p.R453H(1)	large_intestine(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1357-1359)cGc>cAc		zinc finger with KRAB and SCAN domains 1							171	174	173					7																	99631486		2203	4300	6503	SO:0001583	missense	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99631486G>A	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1358G>A	7.37:g.99631486G>A	ENSP00000323148:p.Arg453His					ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.R417H|ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.R240H	p.R453H	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	1592	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		453					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	c.1358G>A	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927530	0.73327	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000535170	T;T;T	0.02446	4.29;4.29;4.29	5.08	5.08	0.68730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000036	T	0.14960	0.0361	M	0.84511	2.7	0.38329	D	0.943754	D	0.89917	1.0	D	0.75484	0.986	T	0.00094	-1.2079	10	0.87932	D	0	.	9.691	0.40127	0.0923:0.0:0.9077:0.0	.	453	P17029	ZKSC1_HUMAN	H	453;417;240	ENSP00000323148:R453H;ENSP00000409172:R417H;ENSP00000443508:R240H	ENSP00000323148:R453H	R	+	2	0	ZKSCAN1	99469422	0.848000	0.29623	0.965000	0.40720	0.883000	0.51084	2.088000	0.41663	2.802000	0.96397	0.563000	0.77884	CGC		0.522	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		4	162	0	0	0	1	0	4	162					A	99631486	G	A	99631486	3	1	457	1	0	0	0	0	1	0	0	0	17683	1087	38	1	1376	1	ZKSCAN1	7	99631486	Missense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08	13093645	99631486	59507177	25	31165											
MUC17	140453	broad.mit.edu	37	chr7	100685726	100685726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagtcagttcatctcctGtgactcctgaaggtaccacc	9	10	7	15	0	3	2	2	2	1	0	5	2	4	2	5	1	1	2	5	1	3	2			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr7:100685726G>T	ENST00000306151.4	+	3	11093	c.11029G>T	c.(11029-11031)Gtg>Ttg	p.V3677L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3677	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCATCTCCTGTGACTCCTGA	0.517																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(11029-11031)Gtg>Ttg		mucin 17, cell surface associated							203	187	192					7																	100685726		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685726G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11029G>T	7.37:g.100685726G>T	ENSP00000302716:p.Val3677Leu						p.V3677L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	11093	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3677			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11029G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	6.038	0.375360	0.11409	.	.	ENSG00000169876	ENST00000306151	T	0.02177	4.41	1.2	-2.4	0.06583	.	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	0.09310	N	1	P	0.43314	0.803	P	0.44477	0.451	T	0.29792	-1.0000	9	0.23302	T	0.38	.	0.8038	0.01080	0.23:0.2017:0.3671:0.2012	.	3677	Q685J3	MUC17_HUMAN	L	3677	ENSP00000302716:V3677L	ENSP00000302716:V3677L	V	+	1	0	MUC17	100472446	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.655000	0.01982	-1.799000	0.01248	-1.453000	0.01033	GTG		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		43	94	1	0	6.21074e-16	1	6.8645e-16	43	94					T	100685726	G	T	100685726	3	4	457	1	0	0	0	0	1	0	0	0	9974	1377	48	5	11039	5	MUC17	7	100685726	Missense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08	1054240	100685726	58452937	26	31166											
CPA2	1358	broad.mit.edu	37	chr7	129929484	129929484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaactgagagacacagggcGctacggcttcctcttgccag	9	8	12	12	2	1	3	0	2	1	1	2	4	2	3	2	2	3	2	2	2	2	3	rs146602328	byFrequency	TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr7:129929484G>A	ENST00000222481.4	+	11	1212	c.1157G>A	c.(1156-1158)cGc>cAc	p.R386H		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	386					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GACACAGGGCGCTACGGCTTC	0.542													G|||	6	0.00119808	0.0045	0	5008	,	,		18328	0		0	False		,,,				2504	0					ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1156-1158)cGc>cAc		carboxypeptidase A2 (pancreatic)		G	HIS/ARG	27,4379	33.5+/-64.1	0,27,2176	136	119	124		1157	0.1	0	7	dbSNP_134	124	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CPA2	NM_001869.2	29	0,29,6474	AA,AG,GG		0.0233,0.6128,0.223	benign	386/420	129929484	29,12977	2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129929484G>A	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.1157G>A	7.37:g.129929484G>A	ENSP00000222481:p.Arg386His						p.R386H	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			11	1212	+	Melanoma(18;0.0435)		386					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.1157G>A	CCDS5817.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.33	1.606654	0.28623	0.006128	2.33E-4	ENSG00000158516	ENST00000222481	T	0.11063	2.81	5.13	0.0599	0.14334	Peptidase M14, carboxypeptidase A (2);	0.952399	0.08703	N	0.906084	T	0.07098	0.0180	L	0.53561	1.675	0.31627	N	0.649525	B	0.12630	0.006	B	0.11329	0.006	T	0.28870	-1.0030	10	0.32370	T	0.25	.	4.8562	0.13561	0.2129:0.0:0.5308:0.2563	.	386	P48052	CBPA2_HUMAN	H	386	ENSP00000222481:R386H	ENSP00000222481:R386H	R	+	2	0	CPA2	129716720	0.002000	0.14202	0.003000	0.11579	0.614000	0.37383	0.649000	0.24843	-0.304000	0.08843	0.561000	0.74099	CGC		0.542	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		9	65	0	0	0	1	0	9	65					A	129929484	G	A	129929484	3	1	457	1	0	0	0	0	1	0	0	0	3790	1087	38	1	1199	1	CPA2	7	129929484	Missense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08	29243758	129929484	29209179	27	31167											
UBXN2B	137886	broad.mit.edu	37	chr8	59359995	59359995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagtctcgtcctgaatttgCggctcttgactttattcttg	6	17	8	10	2	3	2	0	2	3	0	5	2	4	2	1	1	1	1	1	1	2	6	rs565655095		TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr8:59359995C>T	ENST00000399598.2	+	8	1003	c.881C>T	c.(880-882)gCg>gTg	p.A294V		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	294	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						CCTGAATTTGCGGCTCTTGAC	0.348													C|||	1	0.000199681	0	0	5008	,	,		14699	0.001		0	False		,,,				2504	0					ENST00000399598.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(880-882)gCg>gTg		UBX domain protein 2B							102	89	93					8																	59359995		1825	4087	5912	SO:0001583	missense	137886					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		g.chr8:59359995C>T	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"UBX domain containing"	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.881C>T	8.37:g.59359995C>T	ENSP00000382507:p.Ala294Val						p.A294V	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN			8	1003	+			294			UBX.		B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	37	c.881C>T	CCDS43741.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704782	0.88924	.	.	ENSG00000215114	ENST00000399598	T	0.44482	0.92	6.08	6.08	0.98989	UBX (3);	0.000000	0.44483	U	0.000449	T	0.65831	0.2729	M	0.72118	2.19	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	T	0.64050	-0.6498	10	0.54805	T	0.06	-2.5386	18.844	0.92196	0.0:1.0:0.0:0.0	.	294	Q14CS0	UBX2B_HUMAN	V	294	ENSP00000382507:A294V	ENSP00000382507:A294V	A	+	2	0	UBXN2B	59522549	1.000000	0.71417	0.972000	0.41901	0.393000	0.30537	6.947000	0.75959	2.894000	0.99253	0.655000	0.94253	GCG		0.348	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		4	121	0	0	0	1	0	4	121					T	59359995	C	T	59359995	3	4	457	1	0	0	0	0	1	0	0	0	16912	768	27	1	911	1	UBXN2B	8	59359995	Missense_Mutation	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08		59359995	87004027	28	31168											
KCNV1	27012	broad.mit.edu	37	chr8	110980379	110980379	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttctctgcctttcagtcGcagcatctccatgatactcc	6	15	5	15	1	4	1	1	1	3	0	8	1	5	1	3	0	3	2	3	0	1	3			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr8:110980379G>A	ENST00000524391.1	-	4	2473	c.1441C>T	c.(1441-1443)Cga>Tga	p.R481*	KCNV1_ENST00000297404.1_Nonsense_Mutation_p.R481*			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	481					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCTTTCAGTCGCAGCATCTCC	0.403																																						ENST00000524391.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1441-1443)Cga>Tga		potassium channel, subfamily V, member 1							81	76	78					8																	110980379		2203	4300	6503	SO:0001587	stop_gained	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980379G>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1441C>T	8.37:g.110980379G>A	ENSP00000435954:p.Arg481*					KCNV1_ENST00000297404.1_Nonsense_Mutation_p.R481*	p.R481*			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		4	2473	-	all_neural(195;0.219)		481					Q9UHJ4	Nonsense_Mutation	SNP	ENST00000524391.1	37	c.1441C>T	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	40	8.348827	0.98772	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	.	.	.	5.52	4.62	0.57501	.	0.523461	0.18547	N	0.138022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	14.5021	0.67729	0.0:0.0:0.8522:0.1478	.	.	.	.	X	481;481;357	.	ENSP00000297404:R481X	R	-	1	2	KCNV1	111049555	1.000000	0.71417	0.977000	0.42913	0.975000	0.68041	5.100000	0.64560	1.256000	0.44068	0.563000	0.77884	CGA		0.403	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		5	56	0	0	0	1	0	5	56					A	110980379	G	A	110980379	4	1	457	1	0	0	0	0	0	1	0	0	8094	1095	38	1	65	1	KCNV1	8	110980379	Nonsense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08	51620384	110980379	35383643	29	31169											
SMU1	55234	broad.mit.edu	37	chr9	33057683	33057683	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagcatcatccatcatcatAaagttatcttgggcctggta	12	12	7	10	0	4	0	3	0	1	0	5	0	5	0	2	2	1	3	2	2	4	4			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr9:33057683A>G	ENST00000397149.3	-	7	830	c.780T>C	c.(778-780)ttT>ttC	p.F260F	SMU1_ENST00000536631.1_Silent_p.F99F	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	260						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CCATCATCATAAAGTTATCTT	0.403																																						ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(778-780)ttT>ttC		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)							150	139	142					9																	33057683		2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33057683A>G	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"WD repeat domain containing"	18247	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 57"					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.780T>C	9.37:g.33057683A>G						SMU1_ENST00000536631.1_Silent_p.F99F	p.F260F	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	7	830	-			260					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.780T>C	CCDS6534.1																																																																																				0.403	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		5	147	0	0	0	1	0	5	147					G	33057683	A	G	33057683	2	3	457	1	0	0	0	0	0	0	0	1	14817	359	13	4		4	SMU1	9	33057683	Silent	SNP	A	TCGA-YL-A8SC-01A-11D-A377-08		33057683	108155748	30	31170											
BICD2	23299	broad.mit.edu	37	chr9	95485027	95485027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagacgagcttcccGgaatttgtactccttgatgt	8	12	10	11	2	0	2	0	1	0	1	2	4	2	3	2	1	4	4	2	1	2	4			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr9:95485027G>A	ENST00000375512.3	-	3	584	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	BICD2_ENST00000356884.6_Missense_Mutation_p.R173W	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	173					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CGAGCTTCCCGGAATTTGTAC	0.557																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(517-519)Cgg>Tgg		bicaudal D homolog 2 (Drosophila)							122	105	111					9																	95485027		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95485027G>A	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.517C>T	9.37:g.95485027G>A	ENSP00000364662:p.Arg173Trp					BICD2_ENST00000375512.3_Missense_Mutation_p.R173W	p.R173W	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			3	584	-			173					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.517C>T	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354522	0.82243	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.59502	0.26;0.26	4.66	3.71	0.42584	.	0.137211	0.49305	D	0.000153	T	0.75064	0.3799	M	0.83223	2.63	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.71870	0.958;0.975	T	0.79420	-0.1811	10	0.87932	D	0	-38.7002	12.555	0.56248	0.0:0.0:0.8338:0.1662	.	173;173	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	W	173	ENSP00000349351:R173W;ENSP00000364662:R173W	ENSP00000349351:R173W	R	-	1	2	BICD2	94524848	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.384000	0.44362	2.319000	0.78375	0.561000	0.74099	CGG		0.557	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		13	38	0	0	0	1	0	13	38					A	95485027	G	A	95485027	3	1	457	1	0	0	0	0	1	0	0	0	1429	1115	39	2	2080	2	BICD2	9	95485027	Missense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08	62427344	95485027	45728404	31	31171											
HSPA12A	259217	broad.mit.edu	37	chr10	118460629	118460629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggacacaccagggtcacctCcctcccatcgcctgccacca	8	6	7	20	1	1	0	1	0	0	0	4	1	3	1	7	2	1	0	7	2	0	0			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr10:118460629C>T	ENST00000369209.3	-	4	370	c.266G>A	c.(265-267)gGa>gAa	p.G89E		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	89						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		AGGGTCACCTCCCTCCCATCG	0.527																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(265-267)gGa>gAa		heat shock 70kDa protein 12A							71	74	73					10																	118460629		2075	4220	6295	SO:0001583	missense	259217						ATP binding	g.chr10:118460629C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.266G>A	10.37:g.118460629C>T	ENSP00000358211:p.Gly89Glu						p.G89E	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	4	370	-			89						Missense_Mutation	SNP	ENST00000369209.3	37	c.266G>A	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009595	0.93346	.	.	ENSG00000165868	ENST00000369209	T	0.53423	0.62	5.62	5.62	0.85841	.	0.096661	0.64402	D	0.000001	T	0.67078	0.2855	M	0.87097	2.86	0.80722	D	1	P	0.42409	0.779	P	0.48704	0.587	T	0.72858	-0.4165	10	0.87932	D	0	.	19.6599	0.95861	0.0:1.0:0.0:0.0	.	89	O43301	HS12A_HUMAN	E	89	ENSP00000358211:G89E	ENSP00000358211:G89E	G	-	2	0	HSPA12A	118450619	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.726000	0.84824	2.652000	0.90054	0.655000	0.94253	GGA		0.527	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		17	48	0	0	0	1	0	17	48					T	118460629	C	T	118460629	3	4	457	1	0	0	0	0	1	0	0	0	7404	855	30	3	1797	3	HSPA12A	10	118460629	Missense_Mutation	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08		118460629	17074118	32	31172											
SCYL1	57410	broad.mit.edu	37	chr11	65302785	65302785	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggctacaggccaaggatGaacagggccccatccgctgc	10	4	12	15	2	0	1	0	1	0	0	1	2	1	2	4	4	3	2	4	4	3	1			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr11:65302785G>T	ENST00000270176.5	+	10	1395	c.1318G>T	c.(1318-1320)Gaa>Taa	p.E440*	SCYL1_ENST00000279270.6_Nonsense_Mutation_p.E440*|SCYL1_ENST00000420247.2_Nonsense_Mutation_p.E440*|SCYL1_ENST00000533862.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000527009.1_Nonsense_Mutation_p.E297*|SCYL1_ENST00000524944.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000525364.1_Nonsense_Mutation_p.E440*	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	440					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						GGCCAAGGATGAACAGGGCCC	0.592																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1318-1320)Gaa>Taa		SCY1-like 1 (S. cerevisiae)							120	126	124					11																	65302785		2164	4257	6421	SO:0001587	stop_gained	57410				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	g.chr11:65302785G>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1318G>T	11.37:g.65302785G>T	ENSP00000270176:p.Glu440*					SCYL1_ENST00000270176.5_Nonsense_Mutation_p.E440*|SCYL1_ENST00000533862.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000525364.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000279270.6_Nonsense_Mutation_p.E440*|SCYL1_ENST00000420247.2_Nonsense_Mutation_p.E440*|SCYL1_ENST00000527009.1_Nonsense_Mutation_p.E297*|SCYL1_ENST00000527630.1_Nonsense_Mutation_p.E440*	p.E440*			Q96KG9	NTKL_HUMAN			10	1351	+			440					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Nonsense_Mutation	SNP	ENST00000270176.5	37	c.1318G>T	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.041539	0.93685	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	.	.	.	4.64	4.64	0.57946	.	0.342689	0.31601	N	0.007380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.4666	14.9939	0.71415	0.0:0.0:1.0:0.0	.	.	.	.	X	440;440;440;440;440;440;440;440;297	.	ENSP00000270176:E440X	E	+	1	0	SCYL1	65059361	1.000000	0.71417	0.876000	0.34364	0.888000	0.51559	6.804000	0.75186	2.138000	0.66242	0.313000	0.20887	GAA		0.592	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		17	63	1	0	2.37509e-13	1	2.57984e-13	17	63					T	65302785	G	T	65302785	4	4	457	1	0	0	0	0	0	1	0	0	13947	1291	45	5	1356	5	SCYL1	11	65302785	Nonsense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08		65302785	69703731	33	31173											
ATM	472	broad.mit.edu	37	chr11	108224576	108224576	+	Missense_Mutation	SNP	G	G	A																															gagatattgtggatggcatgGgcattacgggtgttgaaggt																										TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr11:108224576G>A	ENST00000452508.2	+	61	8944	c.8755G>A	c.(8755-8757)Ggc>Agc	p.G2919S	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.G2919S			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2919	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			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)	Caffeine(DB00201)	GGATGGCATGGGCATTACGGG	0.408			"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)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				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						c.(8755-8757)Ggc>Agc	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							212	202	206					11																	108224576		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	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	g.chr11:108224576G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8755G>A	11.37:g.108224576G>A	ENSP00000388058:p.Gly2919Ser	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.G2919S|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR	p.G2919S	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		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)	60	9140	+		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)	2919			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8755G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	36	5.670933	0.96754	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.86097	-2.07;-2.07	5.42	5.42	0.78866	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.94069	0.8099	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94927	0.8079	10	0.87932	D	0	.	19.2126	0.93763	0.0:0.0:1.0:0.0	.	2919	Q13315	ATM_HUMAN	S	2919	ENSP00000278616:G2919S;ENSP00000388058:G2919S	ENSP00000278616:G2919S	G	+	1	0	ATM	107729786	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.863000	0.99569	2.538000	0.85594	0.561000	0.74099	GGC		0.408	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		28	97	0	0	0	1	0	28	97					A	108224576	G	A	108224576	3	1	457	1	0	0	0	0	1	0	0	0	1109	1232	43	3	8989	3	ATM	11	108224576	Missense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08	42921791	108224576	26781940	34	31174	148	2									
ATM	472	broad.mit.edu	37	chr11	108224578	108224578	+	Silent	SNP	C	C	G																															gatattgtggatggcatgggCattacgggtgttgaaggtgt																										TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr11:108224578C>G	ENST00000452508.2	+	61	8946	c.8757C>G	c.(8755-8757)ggC>ggG	p.G2919G	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Silent_p.G2919G			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2919	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			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)	Caffeine(DB00201)	ATGGCATGGGCATTACGGGTG	0.403			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				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						c.(8755-8757)ggC>ggG	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							212	202	206					11																	108224578		2201	4298	6499	SO:0001819	synonymous_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	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	g.chr11:108224578C>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8757C>G	11.37:g.108224578C>G		TSP Lung(14;0.12)				ATM_ENST00000452508.2_Silent_p.G2919G|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR	p.G2919G	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		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)	60	9142	+		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)	2919			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.8757C>G	CCDS31669.1																																																																																				0.403	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		28	97	0	0	0	1	0	28	97					G	108224578	C	G	108224578	2	3	457	1	0	0	0	0	0	0	0	1	1109	697	25	5		5	ATM	11	108224578	Silent	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08	2	108224578	26781938	35	31175	148	2									
UBASH3B	84959	broad.mit.edu	37	chr11	122650305	122650305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcccctggagctctataCgtcgtccaacttcatcggcc	6	10	9	16	3	2	0	1	0	1	0	5	1	3	1	4	2	4	2	4	2	3	3			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr11:122650305C>T	ENST00000284273.5	+	4	878	c.503C>T	c.(502-504)aCg>aTg	p.T168M		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	168					negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GAGCTCTATACGTCGTCCAAC	0.572																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(502-504)aCg>aTg		ubiquitin associated and SH3 domain containing B							100	94	96					11																	122650305		2202	4299	6501	SO:0001583	missense	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122650305C>T	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.503C>T	11.37:g.122650305C>T	ENSP00000284273:p.Thr168Met						p.T168M	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	4	878	+		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)	168					Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	c.503C>T	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046143	0.75846	.	.	ENSG00000154127	ENST00000284273	T	0.42900	0.96	5.02	5.02	0.67125	.	0.159390	0.56097	D	0.000029	T	0.41026	0.1141	L	0.32530	0.975	0.43003	D	0.99452	D	0.55605	0.972	P	0.49999	0.628	T	0.35943	-0.9768	10	0.62326	D	0.03	-12.7561	11.7961	0.52100	0.0:0.9196:0.0:0.0804	.	168	Q8TF42	UBS3B_HUMAN	M	168	ENSP00000284273:T168M	ENSP00000284273:T168M	T	+	2	0	UBASH3B	122155515	0.999000	0.42202	0.992000	0.48379	0.953000	0.61014	4.093000	0.57714	2.326000	0.78906	0.650000	0.86243	ACG		0.572	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		30	31	0	0	0	1	0	30	31					T	122650305	C	T	122650305	3	4	457	1	0	0	0	0	1	0	0	0	16837	536	19	1	517	1	UBASH3B	11	122650305	Missense_Mutation	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08	14425727	122650305	12356211	36	31176											
ANP32D	23519	broad.mit.edu	37	chr12	48866491	48866491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagagctgcggaacaggaCgccctccgatgtgaaagaac	12	7	12	10	3	0	3	0	1	0	2	1	6	1	5	2	2	4	1	2	2	4	2			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr12:48866491C>T	ENST00000266594.1	+	1	44	c.44C>T	c.(43-45)aCg>aTg	p.T15M		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	15						nuclear matrix (GO:0016363)				central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						CGGAACAGGACGCCCTCCGAT	0.458																																						ENST00000266594.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(43-45)aCg>aTg		acidic (leucine-rich) nuclear phosphoprotein 32 family, member D							111	113	112					12																	48866491		2203	4300	6503	SO:0001583	missense	23519							g.chr12:48866491C>T	U71084	CCDS31788.1	12q13.12	2008-08-04			ENSG00000139223	ENSG00000139223		"ANP32 acidic nuclear phosphoproteins"	16676	protein-coding gene	gene with protein product	"pp32 related 2"	606878				10086381, 10400610	Standard	NM_012404		Approved	PP32R2	uc010slt.2	O95626	OTTHUMG00000162681	ENST00000266594.1:c.44C>T	12.37:g.48866491C>T	ENSP00000266594:p.Thr15Met						p.T15M	NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN			1	44	+			15					Q6NTC4	Missense_Mutation	SNP	ENST00000266594.1	37	c.44C>T	CCDS31788.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508015	0.44558	.	.	ENSG00000139223	ENST00000266594	T	0.00460	7.27	1.6	-1.09	0.09904	.	0.181808	0.47093	D	0.000241	T	0.00412	0.0013	M	0.84948	2.725	0.43613	D	0.995988	P	0.45474	0.859	B	0.34180	0.177	T	0.71882	-0.4458	10	0.66056	D	0.02	.	3.32	0.07047	0.2471:0.5614:0.0:0.1915	.	15	O95626	AN32D_HUMAN	M	15	ENSP00000266594:T15M	ENSP00000266594:T15M	T	+	2	0	ANP32D	47152758	1.000000	0.71417	0.084000	0.20598	0.770000	0.43624	0.690000	0.25451	0.049000	0.15920	0.442000	0.29010	ACG		0.458	ANP32D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370058.1	NM_012404		42	91	0	0	0	1	0	42	91					T	48866491	C	T	48866491	3	4	457	1	0	0	0	0	1	0	0	0	708	536	19	1	46	1	ANP32D	12	48866491	Missense_Mutation	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08		48866491	84985404	37	31177											
ZBTB39	9880	broad.mit.edu	37	chr12	57398256	57398256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggatgggcaggttctgccGaaggacaactcagggtacca	10	6	16	9	1	2	0	1	0	1	0	2	3	2	2	2	6	3	3	2	6	3	2	rs555217500		TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr12:57398256G>A	ENST00000300101.2	-	2	531	c.446C>T	c.(445-447)tCg>tTg	p.S149L		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AGGTTCTGCCGAAGGACAACT	0.577													G|||	1	0.000199681	0	0	5008	,	,		19991	0		0	False		,,,				2504	0.001					ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(445-447)tCg>tTg		zinc finger and BTB domain containing 39							86	86	86					12																	57398256		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57398256G>A	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.446C>T	12.37:g.57398256G>A	ENSP00000300101:p.Ser149Leu						p.S149L	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	531	-			149					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.446C>T	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	2.804	-0.248530	0.05867	.	.	ENSG00000166860	ENST00000300101	T	0.09350	2.99	5.54	4.66	0.58398	.	0.454178	0.21541	N	0.072885	T	0.06600	0.0169	N	0.14661	0.345	0.22435	N	0.999106	B	0.30114	0.269	B	0.23716	0.048	T	0.33266	-0.9875	10	0.29301	T	0.29	-2.7377	12.4029	0.55422	0.0805:0.0:0.9195:0.0	.	149	O15060	ZBT39_HUMAN	L	149	ENSP00000300101:S149L	ENSP00000300101:S149L	S	-	2	0	ZBTB39	55684523	0.892000	0.30473	0.094000	0.20943	0.032000	0.12392	2.693000	0.47027	1.584000	0.49913	-0.137000	0.14449	TCG		0.577	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		11	74	0	0	0	1	0	11	74					A	57398256	G	A	57398256	3	1	457	1	0	0	0	0	1	0	0	0	17537	1059	37	2	1696	2	ZBTB39	12	57398256	Missense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08	8531765	57398256	76453639	38	31178											
KIAA1409	57578	broad.mit.edu	37	chr14	94008906	94008906	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcactccactgcgtataTgatggatgatgaagtgggaa	11	12	12	6	1	1	3	1	3	0	0	2	5	2	5	1	2	1	2	1	2	4	3			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr14:94008906T>A	ENST00000393151.2	+	14	1619	c.1619T>A	c.(1618-1620)aTg>aAg	p.M540K	UNC79_ENST00000555664.1_Missense_Mutation_p.M540K|UNC79_ENST00000553484.1_Missense_Mutation_p.M540K|UNC79_ENST00000256339.4_Missense_Mutation_p.M363K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	540					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACTGCGTATATGATGGATGAT	0.512																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1618-1620)aTg>aAg		unc-79 homolog (C. elegans)							212	164	180					14																	94008906		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94008906T>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1619T>A	14.37:g.94008906T>A	ENSP00000376858:p.Met540Lys					UNC79_ENST00000555664.1_Missense_Mutation_p.M540K|UNC79_ENST00000256339.4_Missense_Mutation_p.M363K|UNC79_ENST00000393151.2_Missense_Mutation_p.M540K	p.M540K			Q9P2D8	UNC79_HUMAN			14	1773	+			540					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1619T>A		.	.	.	.	.	.	.	.	.	.	T	28.4	4.917074	0.92249	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	L	0.36672	1.1	0.58432	D	0.999998	P	0.48998	0.918	P	0.61132	0.884	T	0.00928	-1.1511	10	0.41790	T	0.15	-29.602	16.1512	0.81624	0.0:0.0:0.0:1.0	.	540	C9JQL1	.	K	363;540;540;540;540	ENSP00000256339:M363K;ENSP00000450868:M540K;ENSP00000451360:M540K;ENSP00000376858:M540K	ENSP00000256339:M363K	M	+	2	0	KIAA1409	93078659	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.000000	0.88501	2.204000	0.70986	0.528000	0.53228	ATG		0.512	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		14	107	0	0	0	1	0	14	107					A	94008906	T	A	94008906	3	1	457	1	0	0	0	0	1	0	0	0	8230	1464	51	5	1130	5	KIAA1409	14	94008906	Missense_Mutation	SNP	T	TCGA-YL-A8SC-01A-11D-A377-08		94008906	13340634	39	31179											
SLTM	79811	broad.mit.edu	37	chr15	59186349	59186349	+	Missense_Mutation	SNP	T	T	A																															ttcttgaactactcttttcaTcattttctttcttcatttct																										TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr15:59186349T>A	ENST00000380516.2	-	11	1508	c.1421A>T	c.(1420-1422)gAt>gTt	p.D474V	SLTM_ENST00000536328.1_Missense_Mutation_p.D43V|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	474					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACTCTTTTCATCATTTTCTTT	0.284																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1420-1422)gAt>gTt		SAFB-like, transcription modulator							88	85	86					15																	59186349		2190	4291	6481	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59186349T>A	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1421A>T	15.37:g.59186349T>A	ENSP00000369887:p.Asp474Val					SLTM_ENST00000536328.1_Missense_Mutation_p.D43V	p.D474V	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			11	1508	-			474					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.1421A>T	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535816	0.64972	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328;ENST00000249736	D	0.89810	-2.57	5.46	5.46	0.80206	.	0.109608	0.40144	N	0.001180	D	0.89269	0.6667	L	0.32530	0.975	0.80722	D	1	D;D	0.61697	0.981;0.99	P;P	0.55455	0.617;0.776	D	0.90312	0.4338	10	0.59425	D	0.04	.	15.5254	0.75901	0.0:0.0:0.0:1.0	.	474;43	Q9NWH9;A8K5V8	SLTM_HUMAN;.	V	474;67;43;456	ENSP00000369887:D474V	ENSP00000249736:D456V	D	-	2	0	SLTM	56973641	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.386000	0.79775	2.059000	0.61396	0.528000	0.53228	GAT		0.284	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		8	22	0	0	0	1	0	8	22					A	59186349	T	A	59186349	3	1	457	1	0	0	0	0	1	0	0	0	14754	1435	50	5	1727	5	SLTM	15	59186349	Missense_Mutation	SNP	T	TCGA-YL-A8SC-01A-11D-A377-08		59186349	43345043	40	31180	149	2									
SLTM	79811	broad.mit.edu	37	chr15	59186350	59186350	+	Missense_Mutation	SNP	C	C	T																															tcttgaactactcttttcatCattttctttcttcatttctt																										TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr15:59186350C>T	ENST00000380516.2	-	11	1507	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N	SLTM_ENST00000536328.1_Missense_Mutation_p.D43N|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	474					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCTTTTCATCATTTTCTTTC	0.284																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1420-1422)Gat>Aat		SAFB-like, transcription modulator							86	83	84					15																	59186350		2190	4291	6481	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59186350C>T	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1420G>A	15.37:g.59186350C>T	ENSP00000369887:p.Asp474Asn					SLTM_ENST00000536328.1_Missense_Mutation_p.D43N	p.D474N	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			11	1507	-			474					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.1420G>A	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304423	0.81136	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328;ENST00000249736	D	0.89617	-2.54	5.46	5.46	0.80206	.	0.109608	0.40144	N	0.001180	D	0.88325	0.6406	L	0.32530	0.975	0.80722	D	1	P;P	0.50156	0.877;0.932	B;P	0.49192	0.417;0.602	D	0.89002	0.3422	10	0.54805	T	0.06	.	19.2976	0.94129	0.0:1.0:0.0:0.0	.	474;43	Q9NWH9;A8K5V8	SLTM_HUMAN;.	N	474;67;43;456	ENSP00000369887:D474N	ENSP00000249736:D456N	D	-	1	0	SLTM	56973642	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.184000	0.77705	2.547000	0.85894	0.650000	0.86243	GAT		0.284	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		8	21	0	0	0	1	0	8	21					T	59186350	C	T	59186350	3	4	457	1	0	0	0	0	1	0	0	0	14754	826	29	3	1728	3	SLTM	15	59186350	Missense_Mutation	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08	1	59186350	43345042	41	31181	149	2									
C15orf39	56905	broad.mit.edu	37	chr15	75501073	75501073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgccaggctgcacctcacGcatgctgaagttactggcgc	7	8	11	15	2	1	1	1	1	0	0	1	1	1	1	3	2	4	5	3	2	2	1			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr15:75501073G>A	ENST00000360639.2	+	2	3004	c.2684G>A	c.(2683-2685)cGc>cAc	p.R895H	C15orf39_ENST00000567617.1_Missense_Mutation_p.R895H|C15orf39_ENST00000394987.4_Missense_Mutation_p.R895H|RP11-69H7.3_ENST00000563568.1_RNA			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	895						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						TGCACCTCACGCATGCTGAAG	0.672																																						ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(2683-2685)cGc>cAc		chromosome 15 open reading frame 39							25	23	24					15																	75501073		2197	4293	6490	SO:0001583	missense	56905							g.chr15:75501073G>A	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2684G>A	15.37:g.75501073G>A	ENSP00000353854:p.Arg895His					C15orf39_ENST00000567617.1_Missense_Mutation_p.R895H|C15orf39_ENST00000394987.4_Missense_Mutation_p.R895H	p.R895H			Q6ZRI6	CO039_HUMAN			2	3004	+			895					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.2684G>A	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512585	0.64522	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.29655	1.56;1.56	5.29	5.29	0.74685	.	0.114959	0.56097	D	0.000032	T	0.54711	0.1875	M	0.64997	1.995	0.40938	D	0.984449	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.58549	-0.7617	10	0.87932	D	0	-26.1361	17.5081	0.87752	0.0:0.0:1.0:0.0	.	457;895	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	H	895;895;293	ENSP00000353854:R895H;ENSP00000378438:R895H	ENSP00000353854:R895H	R	+	2	0	C15orf39	73288126	1.000000	0.71417	0.997000	0.53966	0.272000	0.26649	4.631000	0.61304	2.480000	0.83734	0.561000	0.74099	CGC		0.672	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		8	23	0	0	0	1	0	8	23					A	75501073	G	A	75501073	3	1	457	1	0	0	0	0	1	0	0	0	1793	1087	38	1	2686	1	C15orf39	15	75501073	Missense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08	16314723	75501073	27030319	42	31182											
ZNF319	57567	broad.mit.edu	37	chr16	58030795	58030795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgttcgcaaagcgtgcagcGcaggggcttctctgccgccg	5	7	15	14	6	1	0	0	0	1	0	3	0	1	0	2	2	4	5	2	2	1	2			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr16:58030795G>A	ENST00000299237.2	-	2	1997	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						AGCGTGCAGCGCAGGGGCTTC	0.662																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(1375-1377)Cgc>Tgc		zinc finger protein 319							20	22	21					16																	58030795		2197	4300	6497	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58030795G>A	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"Zinc fingers, C2H2-type"	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1375C>T	16.37:g.58030795G>A	ENSP00000299237:p.Arg459Cys						p.R459C	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	1997	-			459					Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.1375C>T	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922538	0.52653	.	.	ENSG00000166188	ENST00000299237	T	0.44083	0.93	5.07	4.05	0.47172	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.118187	0.51477	D	0.000087	T	0.53786	0.1818	L	0.52011	1.625	0.49389	D	0.999784	D	0.89917	1.0	D	0.63033	0.91	T	0.57225	-0.7848	10	0.87932	D	0	-35.2385	12.4054	0.55436	0.0:0.0:0.7561:0.2439	.	459	Q9P2F9	ZN319_HUMAN	C	459	ENSP00000299237:R459C	ENSP00000299237:R459C	R	-	1	0	ZNF319	56588296	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	4.483000	0.60264	2.353000	0.79882	0.561000	0.74099	CGC		0.662	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			3	8	0	0	0	1	0	3	8					A	58030795	G	A	58030795	3	1	457	1	0	0	0	0	1	0	0	0	17834	1087	38	1	377	1	ZNF319	16	58030795	Missense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08		58030795	32323958	43	31183											
CDH11	1009	broad.mit.edu	37	chr16	65022215	65022215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctacttcctccccagggaCggctgcttctgacacagaca	8	9	8	16	1	1	2	0	1	1	1	4	3	4	3	4	2	2	2	4	2	1	3	rs367827121		TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr16:65022215C>T	ENST00000268603.4	-	7	1459	c.844G>A	c.(844-846)Gtc>Atc	p.V282I	CDH11_ENST00000566827.1_Missense_Mutation_p.V156I|CDH11_ENST00000394156.3_Missense_Mutation_p.V282I	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	282	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCCCCAGGGACGGCTGCTTCT	0.393			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"cadherin 11, type 2, OB-cadherin (osteoblast)"			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(844-846)Gtc>Atc		cadherin 11, type 2, OB-cadherin (osteoblast)		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	176	161	166		844	5.7	1	16		166	0,8600		0,0,4300	no	missense	CDH11	NM_001797.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	282/797	65022215	1,13005	2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65022215C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.844G>A	16.37:g.65022215C>T	ENSP00000268603:p.Val282Ile	TSP Lung(24;0.17)				CDH11_ENST00000566827.1_Missense_Mutation_p.V156I|CDH11_ENST00000268603.4_Missense_Mutation_p.V282I	p.V282I			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	7	1297	-		Ovarian(137;0.0973)	282			Cadherin 3.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.844G>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940964	0.52972	2.27E-4	0.0	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.01745	4.66;4.66	5.65	5.65	0.86999	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.02380	0.0073	N	0.25789	0.76	0.58432	D	0.999999	B;B	0.17667	0.023;0.0	B;B	0.09377	0.004;0.001	T	0.58983	-0.7539	10	0.62326	D	0.03	.	18.7081	0.91646	0.0:1.0:0.0:0.0	.	282;282	P55287-2;P55287	.;CAD11_HUMAN	I	282;282;265	ENSP00000268603:V282I;ENSP00000377711:V282I	ENSP00000268603:V282I	V	-	1	0	CDH11	63579716	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	3.978000	0.56881	2.665000	0.90641	0.650000	0.86243	GTC		0.393	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		9	72	0	0	0	1	0	9	72					T	65022215	C	T	65022215	3	4	457	1	0	0	0	0	1	0	0	0	3097	536	19	1	1574	1	CDH11	16	65022215	Missense_Mutation	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08	6991420	65022215	25332538	44	31184											
FBXW10	10517	broad.mit.edu	37	chr17	18651256	18651256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcttctgtgtttcagggCtcaatcaagacatcacagat	10	13	9	9	0	6	2	4	0	2	2	6	2	6	2	0	2	0	2	0	2	2	2			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr17:18651256C>T	ENST00000395665.4	+	2	729	c.508C>T	c.(508-510)Ctc>Ttc	p.L170F	FBXW10_ENST00000308799.4_Missense_Mutation_p.L170F|FBXW10_ENST00000301938.4_Missense_Mutation_p.L170F|FBXW10_ENST00000395667.1_Missense_Mutation_p.L170F			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	170										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TGTTTCAGGGCTCAATCAAGA	0.443																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(508-510)Ctc>Ttc		F-box and WD repeat domain containing 10							46	47	47					17																	18651256		2201	4298	6499	SO:0001583	missense	10517							g.chr17:18651256C>T	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.508C>T	17.37:g.18651256C>T	ENSP00000379025:p.Leu170Phe					FBXW10_ENST00000395665.4_Missense_Mutation_p.L170F|FBXW10_ENST00000395667.1_Missense_Mutation_p.L170F|FBXW10_ENST00000301938.4_Missense_Mutation_p.L170F	p.L170F			Q5XX13	FBW10_HUMAN			2	727	+			170					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.508C>T	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	C	5.028	0.190869	0.09547	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	2.08	-0.15	0.13416	WD40/YVTN repeat-like-containing domain (1);	0.137344	0.46758	U	0.000261	T	0.19366	0.0465	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.20671	0.021;0.021;0.022;0.047	B;B;B;B	0.18263	0.021;0.021;0.018;0.021	T	0.17806	-1.0357	10	0.14656	T	0.56	.	2.4718	0.04566	0.2903:0.5287:0.0:0.1809	.	170;170;170;170	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	F	170	ENSP00000379026:L170F;ENSP00000310382:L170F;ENSP00000306937:L170F;ENSP00000379025:L170F	ENSP00000306937:L170F	L	+	1	0	FBXW10	18591981	0.000000	0.05858	0.001000	0.08648	0.122000	0.20287	-0.341000	0.07811	0.000000	0.14550	0.405000	0.27470	CTC		0.443	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		7	63	0	0	0	1	0	7	63					T	18651256	C	T	18651256	3	4	457	1	0	0	0	0	1	0	0	0	5763	797	28	3	514	3	FBXW10	17	18651256	Missense_Mutation	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08		18651256	62543954	45	31185											
GOSR1	9527	broad.mit.edu	37	chr17	28808252	28808252	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaagttacagtcatagcagTacccgagatggaagacgcga	15	6	11	9	3	1	2	1	0	0	2	1	5	1	3	1	1	3	3	1	1	5	3			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr17:28808252T>A	ENST00000225724.5	+	2	195	c.123T>A	c.(121-123)agT>agA	p.S41R	GOSR1_ENST00000467337.2_5'UTR|GOSR1_ENST00000451249.2_Missense_Mutation_p.S41R|GOSR1_ENST00000581721.1_Missense_Mutation_p.S41R|GOSR1_ENST00000579905.1_3'UTR	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	41					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						GTCATAGCAGTACCCGAGATG	0.373																																						ENST00000225724.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						c.(121-123)agT>agA		golgi SNAP receptor complex member 1							110	109	109					17																	28808252		2203	4300	6503	SO:0001583	missense	9527				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity	g.chr17:28808252T>A	AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"golgi integral membrane protein 2"	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.123T>A	17.37:g.28808252T>A	ENSP00000225724:p.Ser41Arg					GOSR1_ENST00000467337.2_5'UTR|GOSR1_ENST00000579905.1_3'UTR|GOSR1_ENST00000451249.2_Missense_Mutation_p.S41R|GOSR1_ENST00000581721.1_Missense_Mutation_p.S41R	p.S41R	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN			2	195	+			41					J3KST5|O75392	Missense_Mutation	SNP	ENST00000225724.5	37	c.123T>A	CCDS11258.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.628679	0.46944	.	.	ENSG00000108587	ENST00000225724;ENST00000451249;ENST00000427274;ENST00000537788	.	.	.	5.83	3.59	0.41128	.	0.197717	0.64402	D	0.000007	T	0.48241	0.1489	L	0.56769	1.78	0.42835	D	0.994039	B;B;B	0.23249	0.0;0.0;0.082	B;B;B	0.20577	0.003;0.002;0.03	T	0.32798	-0.9893	9	0.24483	T	0.36	-3.1248	7.2851	0.26333	0.0:0.4174:0.0:0.5826	.	41;41;41	O95249;E9PCW1;Q96QI9	GOSR1_HUMAN;.;.	R	41	.	ENSP00000225724:S41R	S	+	3	2	GOSR1	25832378	0.395000	0.25254	0.670000	0.29842	0.967000	0.64934	0.701000	0.25616	0.477000	0.27464	0.459000	0.35465	AGT		0.373	GOSR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256208.2			23	82	0	0	0	1	0	23	82					A	28808252	T	A	28808252	3	1	457	1	0	0	0	0	1	0	0	0	6577	1635	57	5	129	5	GOSR1	17	28808252	Missense_Mutation	SNP	T	TCGA-YL-A8SC-01A-11D-A377-08	10156996	28808252	52386958	46	31186											
SP2	6668	broad.mit.edu	37	chr17	46002397	46002397	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggccggagagacccaGcccggggagaagcggcgccg	7	1	18	15	5	0	2	0	0	0	2	0	5	0	3	5	5	2	0	5	5	1	0			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr17:46002397G>A	ENST00000376741.4	+	5	1622	c.1485G>A	c.(1483-1485)caG>caA	p.Q495Q	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	495					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GAGAGACCCAGCCCGGGGAGA	0.602																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(1483-1485)caG>caA		Sp2 transcription factor							43	47	45					17																	46002397		2203	4300	6503	SO:0001819	synonymous_variant	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:46002397G>A		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.1485G>A	17.37:g.46002397G>A						AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA	p.Q495Q	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN			5	1622	+			495					A6NK74	Silent	SNP	ENST00000376741.4	37	c.1485G>A	CCDS11521.2																																																																																				0.602	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		13	39	0	0	0	1	0	13	39					A	46002397	G	A	46002397	2	1	457	1	0	0	0	0	0	0	0	1	14964	962	34	3		3	SP2	17	46002397	Silent	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08	17194145	46002397	35192813	47	31187											
FSCN2	25794	broad.mit.edu	37	chr17	79496148	79496148	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgctacctgcgcagcgaCggccgtctggtctgggagcc	5	6	15	15	5	2	0	0	0	2	0	2	2	2	1	4	3	5	2	4	3	1	1			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr17:79496148C>T	ENST00000417245.2	+	1	727	c.591C>T	c.(589-591)gaC>gaT	p.D197D	RP13-766D20.2_ENST00000430912.1_RNA|FSCN2_ENST00000334850.7_Silent_p.D197D|RP13-766D20.2_ENST00000442532.1_RNA	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	197					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TGCGCAGCGACGGCCGTCTGG	0.667																																						ENST00000417245.2																			0				endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4						c.(589-591)gaC>gaT		fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)							8	11	10					17																	79496148		2113	4191	6304	SO:0001819	synonymous_variant	25794				actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging	g.chr17:79496148C>T	AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"Fascins"	3960	protein-coding gene	gene with protein product		607643	"fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)", "fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.591C>T	17.37:g.79496148C>T						FSCN2_ENST00000334850.7_Silent_p.D197D	p.D197D	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		1	727	+	all_neural(118;0.0878)|Melanoma(429;0.242)		197					A0AVC4|A8MRA6	Silent	SNP	ENST00000417245.2	37	c.591C>T	CCDS45811.1																																																																																				0.667	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418		3	7	0	0	0	1	0	3	7					T	79496148	C	T	79496148	2	4	457	1	0	0	0	0	0	0	0	1	6068	535	19	1		1	FSCN2	17	79496148	Silent	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08	33493751	79496148	1699062	48	31188											
GPR4	2828	broad.mit.edu	37	chr19	46094786	46094786	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagccaggtagcggtcCaccgagatgcagcacaggaa	12	3	13	13	2	0	1	0	0	0	1	1	3	1	2	4	3	4	3	4	3	2	1			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr19:46094786C>A	ENST00000323040.4	-	2	1283	c.339G>T	c.(337-339)gtG>gtT	p.V113V	GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	113					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGTAGCGGTCCACCGAGATGC	0.642																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(337-339)gtG>gtT		G protein-coupled receptor 4							74	77	76					19																	46094786		2203	4300	6503	SO:0001819	synonymous_variant	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094786C>A	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.339G>T	19.37:g.46094786C>A						OPA3_ENST00000544371.1_Intron	p.V113V	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1283	-			113					A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	c.339G>T	CCDS12669.1																																																																																				0.642	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		3	32	1	0	1	1	1	3	32					A	46094786	C	A	46094786	2	1	457	1	0	0	0	0	0	0	0	1	6694	581	21	5		5	GPR4	19	46094786	Silent	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08		46094786	13034197	49	31189											
LILRA6	79168	broad.mit.edu	37	chr19	54745451	54745451	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaaggccgtggctccctcaCctgagggcagaatctccagg	9	6	12	14	1	2	2	1	1	1	1	4	2	3	2	4	4	0	2	4	4	2	0			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr19:54745451C>A	ENST00000396365.2	-	4	698		c.e4+1		LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000245621.5_Splice_Site|LILRA6_ENST00000419410.2_Splice_Site|LILRA6_ENST00000440558.2_Splice_Site|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Splice_Site	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6						immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGCTCCCTCACCTGAGGGCAG	0.572																																						ENST00000440558.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.e4+1		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							36	40	39					19																	54745451		1646	3666	5312	SO:0001630	splice_region_variant	79168							g.chr19:54745451C>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.658+1G>T	19.37:g.54745451C>A						LILRA6_ENST00000270464.5_Splice_Site|LILRA6_ENST00000245621.5_Splice_Site|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Splice_Site|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000396365.2_Splice_Site							GBM - Glioblastoma multiforme(193;0.105)	4	707	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Splice_Site	SNP	ENST00000396365.2	37		CCDS42610.1	.	.	.	.	.	.	.	.	.	.	c	10.29	1.308140	0.23821	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	.	.	.	2.38	2.38	0.29361	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3675	0.32395	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LILRA6	59437263	0.541000	0.26417	0.809000	0.32408	0.151000	0.21798	1.469000	0.35343	1.656000	0.50722	0.162000	0.16502	.		0.572	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318	Intron	14	41	1	0	5.03518e-11	1	5.28694e-11	14	41					A	54745451	C	A	54745451	5	1	457	1	0	0	0	0	0	0	1	0	8789	521	18	5	806	5	LILRA6	19	54745451	Splice_Site	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08	8650665	54745451	4383532	50	31190											
ZNF512B	57473	broad.mit.edu	37	chr20	62597977	62597977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctgaccccaacaggcCggctgatggtgaccggcctg	6	7	14	14	2	0	3	0	3	0	0	0	3	0	3	5	4	2	3	5	4	1	1			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr20:62597977C>T	ENST00000450537.1	-	5	611	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	ZNF512B_ENST00000217130.3_Missense_Mutation_p.R184Q|ZNF512B_ENST00000369888.1_Missense_Mutation_p.R184Q			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCCAACAGGCCGGCTGATGGT	0.597																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(550-552)cGg>cAg		zinc finger protein 512B							69	71	70					20																	62597977		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62597977C>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.551G>A	20.37:g.62597977C>T	ENSP00000393795:p.Arg184Gln					ZNF512B_ENST00000369888.1_Missense_Mutation_p.R184Q|ZNF512B_ENST00000217130.3_Missense_Mutation_p.R184Q	p.R184Q			Q96KM6	Z512B_HUMAN			5	611	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		184					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.551G>A	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945601	0.73672	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.23147	1.92;1.92;1.92	5.67	3.54	0.40534	.	0.316289	0.22973	N	0.053408	T	0.12475	0.0303	L	0.37630	1.12	0.29204	N	0.875005	P	0.43352	0.804	B	0.28011	0.085	T	0.09840	-1.0656	10	0.11794	T	0.64	-16.5295	7.8744	0.29584	0.0:0.761:0.0:0.239	.	184	Q96KM6	Z512B_HUMAN	Q	184	ENSP00000358904:R184Q;ENSP00000393795:R184Q;ENSP00000217130:R184Q	ENSP00000217130:R184Q	R	-	2	0	ZNF512B	62068421	0.040000	0.19996	0.998000	0.56505	0.960000	0.62799	-0.265000	0.08644	1.409000	0.46915	0.585000	0.79938	CGG		0.597	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		5	71	0	0	0	1	0	5	71					T	62597977	C	T	62597977	3	4	457	1	0	0	0	0	1	0	0	0	17954	652	23	2	2179	2	ZNF512B	20	62597977	Missense_Mutation	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08		62597977	427543	51	31191											
LSS	4047	broad.mit.edu	37	chr21	47615597	47615597	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcactcacccatctcGgtaggtctgccccatacagg	8	8	9	16	1	4	0	2	0	2	0	5	0	4	0	3	4	2	2	3	4	2	2	rs369619415		TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr21:47615597G>A	ENST00000397728.3	-	19	1888	c.1810C>T	c.(1810-1812)Cga>Tga	p.R604*	LSS_ENST00000356396.4_Nonsense_Mutation_p.R604*|LSS_ENST00000522411.1_Nonsense_Mutation_p.R593*|AP001468.1_ENST00000594486.1_5'Flank|LSS_ENST00000457828.2_Nonsense_Mutation_p.R524*	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	604					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CACCCATCTCGGTAGGTCTGC	0.557																																					Pancreas(114;955 2313 34923 50507)	ENST00000397728.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21						c.(1810-1812)Cga>Tga		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)		G	stop/ARG,stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	127	111	116		1810,1777,1570,1810	-2.2	0	21		116	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained,stop-gained	LSS	NM_001001438.2,NM_001145436.1,NM_001145437.1,NM_002340.5	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	604/733,593/722,524/653,604/733	47615597	1,13005	2203	4300	6503	SO:0001587	stop_gained	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47615597G>A	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1810C>T	21.37:g.47615597G>A	ENSP00000380837:p.Arg604*					LSS_ENST00000522411.1_Nonsense_Mutation_p.R593*|LSS_ENST00000457828.2_Nonsense_Mutation_p.R524*|LSS_ENST00000356396.4_Nonsense_Mutation_p.R604*	p.R604*	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN			19	1888	-	Breast(49;0.214)		604					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Nonsense_Mutation	SNP	ENST00000397728.3	37	c.1810C>T	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	37	6.260933	0.97421	2.27E-4	0.0	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	.	.	.	5.61	-2.25	0.06888	.	1.352720	0.04330	N	0.352151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	2.0186	0.03504	0.1979:0.0965:0.3506:0.355	.	.	.	.	X	604;524;604;593	.	ENSP00000348762:R604X	R	-	1	2	LSS	46440025	0.004000	0.15560	0.009000	0.14445	0.010000	0.07245	-0.020000	0.12525	-0.168000	0.10853	-0.137000	0.14449	CGA		0.557	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			4	64	0	0	0	1	0	4	64					A	47615597	G	A	47615597	4	1	457	1	0	0	0	0	0	1	0	0	9065	1124	39	2	404	2	LSS	21	47615597	Nonsense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08		47615597	514298	52	31192											
MAP3K15	389840	broad.mit.edu	37	chrX	19413307	19413307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgtgcagggctatctcctCgtgcagaggctgagaatacc	8	10	12	11	1	1	2	0	1	1	2	3	3	1	2	2	2	3	4	2	2	3	3			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chrX:19413307C>T	ENST00000338883.4	-	16	2085	c.2086G>A	c.(2086-2088)Gag>Aag	p.E696K	MAP3K15_ENST00000359173.3_Missense_Mutation_p.E131K|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.E528K	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	696	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.E743*(1)|p.E171*(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCTATCTCCTCGTGCAGAGGC	0.507													c|||	1	0.000264901	0	0	3775	,	,		13264	0		0	False		,,,				2504	0.001					ENST00000338883.4																			2	Substitution - Nonsense(2)	p.E743*(1)|p.E171*(1)	prostate(2)	NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2086-2088)Gag>Aag		mitogen-activated protein kinase kinase kinase 15							148	128	135					X																	19413307		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19413307C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2086G>A	X.37:g.19413307C>T	ENSP00000345629:p.Glu696Lys					MAP3K15_ENST00000469203.2_Missense_Mutation_p.E528K|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.E131K	p.E696K	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			16	2085	-	Hepatocellular(33;0.183)		696			Protein kinase.		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.2086G>A		.	.	.	.	.	.	.	.	.	.	C	26.5	4.742723	0.89573	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.23552	1.9;1.9;1.9	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.32763	0.0840	N	0.16066	0.365	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.59115	0.852;0.833	T	0.16100	-1.0414	10	0.52906	T	0.07	.	19.2177	0.93785	0.0:1.0:0.0:0.0	.	171;696	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	K	696;131;528	ENSP00000345629:E696K;ENSP00000352093:E131K;ENSP00000428356:E528K	ENSP00000345629:E696K	E	-	1	0	MAP3K15	19323228	1.000000	0.71417	0.719000	0.30619	0.438000	0.31896	7.429000	0.80309	2.489000	0.83994	0.597000	0.82753	GAG		0.507	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		3	60	0	0	0	1	0	3	60					T	19413307	C	T	19413307	3	4	457	1	0	0	0	0	1	0	0	0	9249	893	31	2	1911	2	MAP3K15	23	19413307	Missense_Mutation	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08		19413307	135857253	53	31193											
LHX8	431707	broad.mit.edu	37	chr1	75602926	75602926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagttgcggcctggagatcGtggacaaataccttctcaag	11	9	11	10	2	1	1	1	0	1	1	3	3	1	2	2	3	2	1	2	3	3	3			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr1:75602926G>A	ENST00000294638.5	+	4	911	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	LHX8_ENST00000559413.1_3'UTR|LHX8_ENST00000356261.3_Missense_Mutation_p.V73M	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	83	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CCTGGAGATCGTGGACAAATA	0.647																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(247-249)Gtg>Atg		LIM homeobox 8							34	35	34					1																	75602926		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75602926G>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.247G>A	1.37:g.75602926G>A	ENSP00000294638:p.Val83Met					LHX8_ENST00000559413.1_3'UTR|LHX8_ENST00000356261.3_Missense_Mutation_p.V73M	p.V83M	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN			4	911	+			83			LIM zinc-binding 1.		E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.247G>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766039	0.69878	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.87650	-2.28;-2.28	5.1	4.17	0.49024	Zinc finger, LIM-type (5);	0.058303	0.64402	D	0.000002	D	0.84502	0.5486	L	0.41492	1.28	0.48511	D	0.999664	D	0.63880	0.993	P	0.57502	0.822	D	0.83799	0.0235	10	0.34782	T	0.22	.	15.6303	0.76904	0.0:0.138:0.862:0.0	.	83	Q68G74	LHX8_HUMAN	M	83;73	ENSP00000294638:V83M;ENSP00000348597:V73M	ENSP00000294638:V83M	V	+	1	0	LHX8	75375514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.427000	0.52785	1.142000	0.42291	0.549000	0.68633	GTG		0.647	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		11	14	0	0	0	1	0	11	14					A	75602926	G	A	75602926	3	1	458	1	0	0	0	0	1	0	0	0	8776	1145	40	1	257	1	LHX8	1	75602926	Missense_Mutation	SNP	G	TCGA-YL-A8SF-01A-11D-A377-08		75602926	173647695	1	31194											
RYR2	6262	broad.mit.edu	37	chr1	237617790	237617790	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatctcattggctacttccaCcccccagatgagcatttaga	10	11	7	13	0	1	3	1	1	1	2	3	4	2	3	4	1	2	2	4	1	2	5			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr1:237617790C>T	ENST00000366574.2	+	15	1709	c.1392C>T	c.(1390-1392)caC>caT	p.H464H	RYR2_ENST00000542537.1_Silent_p.H448H|RYR2_ENST00000360064.6_Silent_p.H462H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	464					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTACTTCCACCCCCCAGATG	0.493																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(1390-1392)caC>caT		ryanodine receptor 2 (cardiac)							76	75	75					1																	237617790		1921	4126	6047	SO:0001819	synonymous_variant	6262				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	g.chr1:237617790C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1392C>T	1.37:g.237617790C>T						RYR2_ENST00000360064.6_Silent_p.H462H|RYR2_ENST00000542537.1_Silent_p.H448H	p.H464H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		15	1709	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	464					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.1392C>T	CCDS55691.1																																																																																				0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	16	0	0	0	1	0	9	16					T	237617790	C	T	237617790	2	4	458	1	0	0	0	0	0	0	0	1	13769	506	18	3		3	RYR2	1	237617790	Silent	SNP	C	TCGA-YL-A8SF-01A-11D-A377-08	162014864	237617790	11632831	2	31195											
XIRP1	165904	broad.mit.edu	37	chr3	39228269	39228269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcccagtccttgccaCggaggtcccaagaccgcaag	10	4	10	17	2	0	1	0	0	0	1	2	2	2	2	6	2	2	1	6	2	2	1			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr3:39228269C>T	ENST00000340369.3	-	2	2896	c.2668G>A	c.(2668-2670)Gtg>Atg	p.V890M	XIRP1_ENST00000396251.1_Missense_Mutation_p.V890M|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	890					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.V890M(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTCCTTGCCACGGAGGTCCCA	0.612																																						ENST00000340369.3																			1	Substitution - Missense(1)	p.V890M(1)	large_intestine(1)	breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(2668-2670)Gtg>Atg		xin actin-binding repeat containing 1							30	28	29					3																	39228269		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39228269C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2668G>A	3.37:g.39228269C>T	ENSP00000343140:p.Val890Met					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.V890M	p.V890M	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	2896	-			890					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.2668G>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	1.318	-0.600250	0.03744	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.05199	3.48;3.87	4.89	1.95	0.26073	.	1.306450	0.04875	N	0.446697	T	0.04861	0.0131	N	0.19112	0.55	0.09310	N	1	B;B	0.22480	0.015;0.07	B;B	0.15870	0.007;0.014	T	0.41858	-0.9485	10	0.40728	T	0.16	.	3.9979	0.09566	0.1612:0.5482:0.0:0.2905	.	890;890	Q702N8;Q702N8-2	XIRP1_HUMAN;.	M	890	ENSP00000379550:V890M;ENSP00000343140:V890M	ENSP00000343140:V890M	V	-	1	0	XIRP1	39203273	0.000000	0.05858	0.001000	0.08648	0.140000	0.21249	-0.305000	0.08188	0.164000	0.19529	-0.119000	0.15052	GTG		0.612	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		11	9	0	0	0	1	0	11	9					T	39228269	C	T	39228269	3	4	458	1	0	0	0	0	1	0	0	0	17426	536	19	1	2867	1	XIRP1	3	39228269	Missense_Mutation	SNP	C	TCGA-YL-A8SF-01A-11D-A377-08		39228269	158794161	3	31196											
IMPDH2	25915	broad.mit.edu	37	chr3	49062390	49062390	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgagagaacccataccgcGatatttctttagccggatcc	11	10	8	12	4	1	1	0	0	1	1	3	5	2	2	4	1	3	0	4	1	4	5			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr3:49062390G>A	ENST00000326925.6	+	0	2012				DALRD3_ENST00000496568.1_5'Flank|IMPDH2_ENST00000326739.4_Missense_Mutation_p.R412C	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CCCATACCGCGATATTTCTTT	0.542																																						ENST00000326739.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(1234-1236)Cgc>Tgc		IMP (inosine 5'-monophosphate) dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						76	74	75					3																	49062390		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49062390G>A		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49062390G>A							p.R412C	NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1273	-			412			IMP binding (By similarity).			Missense_Mutation	SNP	ENST00000326925.6	37	c.1234C>T	CCDS2784.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.300501|4.300501	0.81136|0.81136	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000326739|ENST00000429182	D|.	0.81659|.	-1.52|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91246|0.91246	0.7241|0.7241	H|H	0.98754|0.98754	4.32|4.32	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.94772|0.94772	0.7946|0.7946	10|5	0.87932|.	D|.	0|.	-11.5071|-11.5071	19.0076|19.0076	0.92857|0.92857	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	412|.	P12268|.	IMDH2_HUMAN|.	C|L	412|367	ENSP00000321584:R412C|.	ENSP00000321584:R412C|.	R|S	-|-	1|2	0|0	IMPDH2|IMPDH2	49037394|49037394	1.000000|1.000000	0.71417|0.71417	0.690000|0.690000	0.30148|0.30148	0.993000|0.993000	0.82548|0.82548	6.149000|6.149000	0.71795|0.71795	2.489000|2.489000	0.83994|0.83994	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.542	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		15	46	0	0	0	1	0	15	46					A	49062390	G	A	49062390	1	1	458	0	1	0	0	0	0	0	0	0	7727	1058	37	2		2	IMPDH2	3	49062390	IGR	SNP	G	TCGA-YL-A8SF-01A-11D-A377-08	9834121	49062390	148960040	4	31197											
PRICKLE2	166336	broad.mit.edu	37	chr3	64145666	64145666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaaggcctgacattccCgcggcccaagttttcgcgtt	7	10	12	12	4	0	1	0	1	0	0	2	2	1	2	3	3	0	2	3	3	2	4			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr3:64145666C>T	ENST00000295902.6	-	4	931	c.346G>A	c.(346-348)Ggg>Agg	p.G116R	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G172R	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	116	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTGACATTCCCGCGGCCCAAG	0.498																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(346-348)Ggg>Agg		prickle homolog 2 (Drosophila)							154	154	154					3																	64145666		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64145666C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.346G>A	3.37:g.64145666C>T	ENSP00000295902:p.Gly116Arg					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G172R	p.G116R	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	4	931	-		Lung NSC(201;0.136)	116			PET.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.346G>A	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443611	0.83993	.	.	ENSG00000163637	ENST00000295902;ENST00000498162	D;D	0.91124	-2.79;-2.79	5.74	5.74	0.90152	PET domain (2);	0.000000	0.64402	D	0.000001	D	0.97105	0.9054	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97504	1.0062	10	0.87932	D	0	-47.3813	20.2825	0.98528	0.0:1.0:0.0:0.0	.	116	Q7Z3G6	PRIC2_HUMAN	R	116	ENSP00000295902:G116R;ENSP00000419951:G116R	ENSP00000295902:G116R	G	-	1	0	PRICKLE2	64120706	1.000000	0.71417	0.992000	0.48379	0.288000	0.27193	7.776000	0.85560	2.873000	0.98535	0.561000	0.74099	GGG		0.498	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		25	63	0	0	0	1	0	25	63					T	64145666	C	T	64145666	3	4	458	1	0	0	0	0	1	0	0	0	12487	652	23	2	2208	2	PRICKLE2	3	64145666	Missense_Mutation	SNP	C	TCGA-YL-A8SF-01A-11D-A377-08	15083276	64145666	133876764	5	31198											
SLC9A3	6550	broad.mit.edu	37	chr5	475733	475734	+	Frame_Shift_Ins	INS	-	-	A																															gccaggaactcgatccccccINSactcatctcctcatcatagt																										TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr5:475733_475734insA	ENST00000264938.3	-	15	2202_2203	c.2193_2194insT	c.(2191-2196)agtgggfs	p.G732fs	CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.5_ENST00000510714.1_5'Flank|SLC9A3_ENST00000514375.1_Frame_Shift_Ins_p.G723fs|CTD-2228K2.5_ENST00000342584.3_5'Flank|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.5_ENST00000510604.1_5'Flank|CTD-2228K2.7_ENST00000606319.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	732					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCGATCCCCCCACTCATCTCCT	0.629																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(2191-2196)agggggfs		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3																																				SO:0001589	frameshift_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:475733_475734insA		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.2194dupT	5.37:g.475734_475734dupA	ENSP00000264938:p.Gly732fs					CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Frame_Shift_Ins_p.R722fs|CTD-2228K2.7_ENST00000607286.1_RNA	p.R731fs	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		15	2202_2203	-			731					B7ZKR2|E9PF67|Q3MIW3	Frame_Shift_Ins	INS	ENST00000264938.3	37	c.2193_2194insT	CCDS3855.1																																																																																				0.629	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		2	4						2	4	---	---	---	---	A	475734	-	A	475733	7	5	458	1	0	1	1	0	0	0	0	0	14713	594	21	0	322	0	SLC9A3	5	475733	Frame_Shift_Ins	INS	-	TCGA-YL-A8SF-01A-11D-A377-08		475733	180439527	6	31199											
ACTBL2	345651	broad.mit.edu	37	chr5	56778450	56778450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggaggggaacacagcccGgggggcatcgtcaccaccaa	11	3	14	13	2	1	0	1	0	0	0	2	2	1	2	3	6	2	1	3	6	2	0	rs575653475		TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr5:56778450G>A	ENST00000423391.1	-	1	186	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	29						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			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)		AACACAGCCCGGGGGGCATCG	0.582																																						ENST00000423391.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28						c.(85-87)Cgg>Tgg		actin, beta-like 2							80	56	64					5																	56778450		2203	4300	6503	SO:0001583	missense	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56778450G>A		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.85C>T	5.37:g.56778450G>A	ENSP00000416706:p.Arg29Trp					CTD-2023N9.1_ENST00000506106.1_RNA	p.R29W	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	186	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	29					B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	c.85C>T	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013895	0.35511	.	.	ENSG00000169067	ENST00000423391	D	0.95137	-3.62	4.96	2.08	0.27032	.	0.000000	0.64402	D	0.000019	D	0.98267	0.9426	H	0.99169	4.455	0.48288	D	0.999626	D	0.76494	0.999	D	0.74348	0.983	D	0.97697	1.0182	10	0.87932	D	0	.	12.0045	0.53251	0.0:0.0:0.5484:0.4516	.	29	Q562R1	ACTBL_HUMAN	W	29	ENSP00000416706:R29W	ENSP00000416706:R29W	R	-	1	2	ACTBL2	56814207	1.000000	0.71417	0.875000	0.34327	0.810000	0.45777	4.603000	0.61105	0.233000	0.21120	0.563000	0.77884	CGG		0.582	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		9	15	0	0	0	1	0	9	15					A	56778450	G	A	56778450	3	1	458	1	0	0	0	0	1	0	0	0	194	1115	39	2	1049	2	ACTBL2	5	56778450	Missense_Mutation	SNP	G	TCGA-YL-A8SF-01A-11D-A377-08	56302717	56778450	124136810	7	31200											
CDC5L	988	broad.mit.edu	37	chr6	44387289	44387289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaggtgtaactccacagcGacaagttgtacagactccaa	13	8	8	12	1	1	1	1	0	0	1	3	2	3	1	2	1	3	3	2	1	4	3	rs370966869		TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr6:44387289G>A	ENST00000371477.3	+	9	1495	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	399	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)	p.R399Q(1)		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)			ACTCCACAGCGACAAGTTGTA	0.433																																						ENST00000371477.3																			1	Substitution - Missense(1)	p.R399Q(1)	kidney(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(1195-1197)cGa>cAa		cell division cycle 5-like		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	159	141	147		1196	5.6	1	6		147	0,8600		0,0,4300	no	missense	CDC5L	NM_001253.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	399/803	44387289	1,13005	2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44387289G>A	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"CDC5 (cell division cycle 5, S. pombe, homolog)-like", "CDC5 cell division cycle 5-like (S. pombe)"			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1196G>A	6.37:g.44387289G>A	ENSP00000360532:p.Arg399Gln						p.R399Q	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		9	1495	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		399			Interaction with PPP1R8.		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.1196G>A	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.296113	0.60086	2.27E-4	0.0	ENSG00000096401	ENST00000371477	T	0.44482	0.92	5.57	5.57	0.84162	.	0.050209	0.85682	D	0.000000	T	0.22205	0.0535	L	0.44542	1.39	0.51012	D	0.999901	B	0.25105	0.118	B	0.22753	0.041	T	0.03394	-1.1041	10	0.28530	T	0.3	-11.512	14.7206	0.69302	0.0714:0.0:0.9286:0.0	.	399	Q99459	CDC5L_HUMAN	Q	399	ENSP00000360532:R399Q	ENSP00000360532:R399Q	R	+	2	0	CDC5L	44495267	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.638000	0.67861	2.609000	0.88269	0.563000	0.77884	CGA		0.433	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			25	45	0	0	0	1	0	25	45					A	44387289	G	A	44387289	3	1	458	1	0	0	0	0	1	0	0	0	3082	1058	37	2	1230	2	CDC5L	6	44387289	Missense_Mutation	SNP	G	TCGA-YL-A8SF-01A-11D-A377-08		44387289	126727778	8	31201											
TMEM181	57583	broad.mit.edu	37	chr6	159046168	159046168	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcatggtggtggcagcGgtgtacattctgtacctctt	5	16	11	9	1	4	0	1	0	3	0	4	0	4	0	1	4	3	3	1	4	2	6			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr6:159046168G>A	ENST00000367090.3	+	12	1409	c.1398G>A	c.(1396-1398)gcG>gcA	p.A466A	AL591025.1_ENST00000397897.1_5'Flank	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	466					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TGGTGGCAGCGGTGTACATTC	0.547																																						ENST00000367090.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22						c.(1396-1398)gcG>gcA		transmembrane protein 181							234	240	238					6																	159046168		2122	4231	6353	SO:0001819	synonymous_variant	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159046168G>A	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"G protein-coupled receptor 178", "KIAA1423"	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1398G>A	6.37:g.159046168G>A							p.A466A	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	12	1409	+		Breast(66;0.000776)|Ovarian(120;0.0303)	466					Q5VTU1	Silent	SNP	ENST00000367090.3	37	c.1398G>A	CCDS43520.1																																																																																				0.547	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		4	127	0	0	0	1	0	4	127					A	159046168	G	A	159046168	2	1	458	1	0	0	0	0	0	0	0	1	16097	1103	39	2		2	TMEM181	6	159046168	Silent	SNP	G	TCGA-YL-A8SF-01A-11D-A377-08	114658879	159046168	12068899	9	31202											
PDE10A	10846	broad.mit.edu	37	chr6	165801923	165801923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtcatgacacagacacGcaatcagcagtcctttgcgc	11	7	9	14	2	2	2	2	1	0	1	3	2	3	2	2	1	2	2	2	1	1	1			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr6:165801923G>A	ENST00000366882.1	-	18	1800	c.1646C>T	c.(1645-1647)gCg>gTg	p.A549V	PDE10A_ENST00000354448.4_Missense_Mutation_p.A549V|PDE10A_ENST00000539869.2_Missense_Mutation_p.A559V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	549					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.A549E(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	ACACAGACACGCAATCAGCAG	0.483																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			1	Substitution - Missense(1)	p.A549E(1)	lung(1)	breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1645-1647)gCg>gTg		phosphodiesterase 10A	Dipyridamole(DB00975)						126	111	116					6																	165801923		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165801923G>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1646C>T	6.37:g.165801923G>A	ENSP00000355847:p.Ala549Val					PDE10A_ENST00000354448.4_Missense_Mutation_p.A549V|PDE10A_ENST00000539869.2_Missense_Mutation_p.A559V	p.A549V			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	18	1800	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	549					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1646C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.175595	0.94807	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.87334	-2.24;-2.24	5.89	5.89	0.94794	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.94948	0.8366	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.953	D	0.95067	0.8201	10	0.87932	D	0	.	20.2561	0.98419	0.0:0.0:1.0:0.0	.	559;549	Q9ULW9;Q9Y233	.;PDE10_HUMAN	V	549;577;559;549;548	ENSP00000355847:A549V;ENSP00000346435:A549V	ENSP00000341187:A559V	A	-	2	0	PDE10A	165721913	1.000000	0.71417	0.557000	0.28306	0.793000	0.44817	9.113000	0.94321	2.797000	0.96272	0.563000	0.77884	GCG		0.483	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			32	60	0	0	0	1	0	32	60					A	165801923	G	A	165801923	3	1	458	1	0	0	0	0	1	0	0	0	11630	1087	38	1	717	1	PDE10A	6	165801923	Missense_Mutation	SNP	G	TCGA-YL-A8SF-01A-11D-A377-08	6755755	165801923	5313144	10	31203											
DTX2	113878	broad.mit.edu	37	chr7	76112081	76112081	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccgcagcgtgcggcgccaAgcagggccgccttacccggt	5	5	15	16	6	0	0	0	0	0	0	0	0	0	0	5	3	5	2	5	3	2	1			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr7:76112081A>G	ENST00000324432.5	+	5	1035	c.525A>G	c.(523-525)caA>caG	p.Q175Q	DTX2_ENST00000307569.8_Silent_p.Q175Q|DTX2_ENST00000430490.2_Silent_p.Q175Q|DTX2_ENST00000446820.2_Silent_p.Q175Q|DTX2_ENST00000446600.1_Silent_p.Q84Q|DTX2_ENST00000413936.2_Silent_p.Q175Q	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	175					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TGCGGCGCCAAGCAGGGCCGC	0.647																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(523-525)caA>caG		deltex homolog 2 (Drosophila)							51	48	49					7																	76112081		2203	4300	6503	SO:0001819	synonymous_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112081A>G		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.525A>G	7.37:g.76112081A>G						DTX2_ENST00000413936.2_Silent_p.Q175Q|DTX2_ENST00000307569.8_Silent_p.Q175Q|DTX2_ENST00000446820.2_Silent_p.Q175Q|DTX2_ENST00000446600.1_Silent_p.Q84Q|DTX2_ENST00000430490.2_Silent_p.Q175Q	p.Q175Q	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1035	+			175					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	c.525A>G	CCDS5587.1																																																																																				0.647	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			23	17	0	0	0	1	0	23	17					G	76112081	A	G	76112081	2	3	458	1	0	0	0	0	0	0	0	1	4794	69	3	4		4	DTX2	7	76112081	Silent	SNP	A	TCGA-YL-A8SF-01A-11D-A377-08		76112081	83026582	11	31204											
CPA2	1358	broad.mit.edu	37	chr7	129912964	129912964	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcaccctggtctagtgAgcaaagtgaatattggctct	10	11	11	9	0	2	3	0	3	2	0	2	3	2	3	1	2	2	3	1	2	4	3			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr7:129912964A>C	ENST00000222481.4	+	5	488	c.433A>C	c.(433-435)Agc>Cgc	p.S145R		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	145					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TGGTCTAGTGAGCAAAGTGAA	0.453																																						ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(433-435)Agc>Cgc		carboxypeptidase A2 (pancreatic)							95	86	89					7																	129912964		2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129912964A>C	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.433A>C	7.37:g.129912964A>C	ENSP00000222481:p.Ser145Arg						p.S145R	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			5	488	+	Melanoma(18;0.0435)		145					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.433A>C	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187279	0.57909	.	.	ENSG00000158516	ENST00000222481	T	0.09350	2.99	5.96	4.77	0.60923	Peptidase M14, carboxypeptidase A (2);	0.208075	0.49916	N	0.000127	T	0.18467	0.0443	M	0.73217	2.22	0.51233	D	0.999911	P;B	0.39717	0.684;0.191	P;B	0.46320	0.512;0.211	T	0.00601	-1.1650	10	0.59425	D	0.04	.	7.89	0.29672	0.7248:0.1406:0.0:0.1346	.	143;145	B4DDX9;P48052	.;CBPA2_HUMAN	R	145	ENSP00000222481:S145R	ENSP00000222481:S145R	S	+	1	0	CPA2	129700200	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	2.371000	0.44248	2.285000	0.76669	0.533000	0.62120	AGC		0.453	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		14	49	0	0	0	1	0	14	49					C	129912964	A	C	129912964	3	2	458	1	0	0	0	0	1	0	0	0	3790	304	11	5	451	5	CPA2	7	129912964	Missense_Mutation	SNP	A	TCGA-YL-A8SF-01A-11D-A377-08	53800883	129912964	29225699	12	31205											
DNAI1	27019	broad.mit.edu	37	chr9	34490062	34490062	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaaacctcgaagaagaCgaagagcccaaggagttaga	18	3	12	8	2	0	4	0	0	0	4	1	8	0	6	2	2	2	1	2	2	6	1	rs374753293		TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr9:34490062C>T	ENST00000242317.4	+	6	612	c.441C>T	c.(439-441)gaC>gaT	p.D147D	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	147					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	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)		TCGAAGAAGACGAAGAGCCCA	0.488									Kartagener syndrome																													ENST00000242317.4																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(439-441)gaC>gaT		dynein, axonemal, intermediate chain 1		C		0,4406		0,0,2203	73	77	76		441	-10.5	0.2	9		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAI1	NM_012144.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		147/700	34490062	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34490062C>T	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"Axonemal dyneins", "WD repeat domain containing"	2954	protein-coding gene	gene with protein product		604366	"dynein, axonemal, intermediate polypeptide 1"			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.441C>T	9.37:g.34490062C>T						DNAI1_ENST00000488369.1_3'UTR	p.D147D	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	6	612	+	all_epithelial(49;0.244)		147					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Silent	SNP	ENST00000242317.4	37	c.441C>T	CCDS6557.1																																																																																				0.488	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			12	13	0	0	0	1	0	12	13					T	34490062	C	T	34490062	2	4	458	1	0	0	0	0	0	0	0	1	4609	535	19	1		1	DNAI1	9	34490062	Silent	SNP	C	TCGA-YL-A8SF-01A-11D-A377-08		34490062	106723369	13	31206											
SORCS1	114815	broad.mit.edu	37	chr10	108923947	108923947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctgccttctcctgatccGctccgctccgtctcctccgg	1	13	8	19	4	3	1	0	1	3	0	9	1	7	1	7	1	1	3	7	1	0	2			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr10:108923947G>A	ENST00000263054.6	-	1	345	c.338C>T	c.(337-339)gCg>gTg	p.A113V	SORCS1_ENST00000344440.6_Missense_Mutation_p.A113V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	113					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			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)		CTCCTGATCCGCTCCGCTCCG	0.721																																						ENST00000263054.6																			0				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						c.(337-339)gCg>gTg		sortilin-related VPS10 domain containing receptor 1							30	29	29					10																	108923947		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923947G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.338C>T	10.37:g.108923947G>A	ENSP00000263054:p.Ala113Val					SORCS1_ENST00000344440.6_Missense_Mutation_p.A113V	p.A113V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	345	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	113					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.338C>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	4.169	0.029855	0.08101	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.12672	2.66;2.67	4.45	-5.19	0.02832	.	2.152390	0.02225	N	0.064323	T	0.05410	0.0143	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.26258	-1.0108	9	.	.	.	-0.0492	1.6294	0.02729	0.1644:0.2115:0.1577:0.4664	.	113;113;113;113;113	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	V	113	ENSP00000263054:A113V;ENSP00000345964:A113V	.	A	-	2	0	SORCS1	108913937	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.586000	0.05787	-0.876000	0.04017	-1.088000	0.02184	GCG		0.721	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		4	8	0	0	0	1	0	4	8					A	108923947	G	A	108923947	3	1	458	1	0	0	0	0	1	0	0	0	14930	1087	38	1	3506	1	SORCS1	10	108923947	Missense_Mutation	SNP	G	TCGA-YL-A8SF-01A-11D-A377-08		108923947	26610800	14	31207											
BCL9L	283149	broad.mit.edu	37	chr11	118773329	118773329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccagcagggcagggccggGggcactgctggggtctcctc	4	5	17	15	1	1	0	0	0	1	0	3	0	1	0	4	6	2	4	4	6	0	0			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr11:118773329G>A	ENST00000334801.3	-	6	2087	c.1123C>T	c.(1123-1125)Ccc>Tcc	p.P375S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	375	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			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)		GCAGGGCCGGGGGCACTGCTG	0.692																																						ENST00000334801.3																			0				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						c.(1123-1125)Ccc>Tcc		B-cell CLL/lymphoma 9-like							28	38	34					11																	118773329		2195	4292	6487	SO:0001583	missense	283149				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	g.chr11:118773329G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1123C>T	11.37:g.118773329G>A	ENSP00000335320:p.Pro375Ser					BCL9L_ENST00000526143.1_5'UTR	p.P375S	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2087	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	375			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.1123C>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	2.366	-0.345399	0.05208	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.62364	0.03	3.9	2.03	0.26663	.	0.173615	0.27609	N	0.018614	T	0.38480	0.1042	N	0.12182	0.205	0.19300	N	0.999977	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17930	-1.0353	10	0.27082	T	0.32	-0.1785	8.5228	0.33287	0.2739:0.0:0.7261:0.0	.	370;375	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	S	375;338;375;375	ENSP00000335320:P375S	ENSP00000335320:P375S	P	-	1	0	BCL9L	118278539	0.406000	0.25344	0.033000	0.17914	0.588000	0.36517	0.363000	0.20301	0.335000	0.23614	-0.680000	0.03767	CCC		0.692	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		9	23	0	0	0	1	0	9	23					A	118773329	G	A	118773329	3	1	458	1	0	0	0	0	1	0	0	0	1382	1232	43	3	3388	3	BCL9L	11	118773329	Missense_Mutation	SNP	G	TCGA-YL-A8SF-01A-11D-A377-08		118773329	16233187	15	31208											
DOCK9	23348	broad.mit.edu	37	chr13	99452702	99452702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggtacatgacagggatgCgcttcttcacataagggaag	11	9	13	8	1	2	1	1	1	1	0	2	3	2	3	0	3	2	3	0	3	3	4			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr13:99452702C>T	ENST00000376460.1	-	53	5878	c.5798G>A	c.(5797-5799)cGc>cAc	p.R1933H	DOCK9_ENST00000339416.2_Missense_Mutation_p.R1920H	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1934	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)					GACAGGGATGCGCTTCTTCAC	0.522																																						ENST00000376460.1																			0				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						c.(5797-5799)cGc>cAc		dedicator of cytokinesis 9							64	65	64					13																	99452702		2120	4242	6362	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99452702C>T	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.5798G>A	13.37:g.99452702C>T	ENSP00000365643:p.Arg1933His					DOCK9_ENST00000339416.2_Missense_Mutation_p.R1920H	p.R1933H	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			53	5878	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1934			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.5798G>A	CCDS45062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.301985|5.301985	0.95601|0.95601	.|.	.|.	ENSG00000088387|ENSG00000088387	ENST00000419908|ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453	.|T;T	.|0.38240	.|1.15;1.15	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72366|0.72366	0.3451|0.3451	H|H	0.94658|0.94658	3.565|3.565	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;1.0;0.999;1.0;1.0;1.0	T|T	0.80845|0.80845	-0.1200|-0.1200	5|10	.|0.87932	.|D	.|0	.|.	19.3791|19.3791	0.94525|0.94525	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|639;552;1933;1934;589;551	.|B7Z6H5;B7Z2J2;Q9BZ29-5;Q9BZ29;B7Z6G9;F5H1Q4	.|.;.;.;DOCK9_HUMAN;.;.	T|H	337|1933;1934;1926;1911;1933;841;1920;551	.|ENSP00000365643:R1933H;ENSP00000341086:R1920H	.|ENSP00000341086:R1920H	A|R	-|-	1|2	0|0	DOCK9|DOCK9	98250703|98250703	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	7.445000|7.445000	0.80570|0.80570	2.644000|2.644000	0.89710|0.89710	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.522	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		8	8	0	0	0	1	0	8	8					T	99452702	C	T	99452702	3	4	458	1	0	0	0	0	1	0	0	0	4694	768	27	1	428	1	DOCK9	13	99452702	Missense_Mutation	SNP	C	TCGA-YL-A8SF-01A-11D-A377-08		99452702	15717176	16	31209											
PLD4	122618	broad.mit.edu	37	chr14	105398121	105398121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtccccagggccgcaccCgggacctggaggcgctgctg	4	6	15	16	3	1	0	0	0	1	0	2	2	2	2	5	4	1	3	5	4	0	0			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr14:105398121C>T	ENST00000392593.4	+	8	1123	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	PLD4_ENST00000553861.1_5'Flank|PLD4_ENST00000540372.1_Missense_Mutation_p.R326W	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	319					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		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)			GGGCCGCACCCGGGACCTGGA	0.652																																						ENST00000540372.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(976-978)Cgg>Tgg		phospholipase D family, member 4	Choline(DB00122)						11	14	13					14																	105398121		1964	4135	6099	SO:0001583	missense	122618				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	g.chr14:105398121C>T		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 175"	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.955C>T	14.37:g.105398121C>T	ENSP00000376372:p.Arg319Trp					PLD4_ENST00000392593.4_Missense_Mutation_p.R319W	p.R326W			Q96BZ4	PLD4_HUMAN	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		8	1168	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	319					Q6UWD2	Missense_Mutation	SNP	ENST00000392593.4	37	c.976C>T	CCDS9995.2	.	.	.	.	.	.	.	.	.	.	C	7.591	0.670770	0.14776	.	.	ENSG00000166428	ENST00000540372;ENST00000392593	T;T	0.22945	1.93;1.93	4.11	1.02	0.19986	Phospholipase D/viral envelope (1);	0.524838	0.18527	N	0.138608	T	0.15219	0.0367	L	0.34521	1.04	0.21627	N	0.999617	B;B	0.13594	0.007;0.008	B;B	0.06405	0.001;0.002	T	0.17776	-1.0358	10	0.36615	T	0.2	0.6994	4.2818	0.10836	0.3129:0.5086:0.0:0.1785	.	326;319	F5H2B5;Q96BZ4	.;PLD4_HUMAN	W	326;319	ENSP00000438677:R326W;ENSP00000376372:R319W	ENSP00000376372:R319W	R	+	1	2	PLD4	104469166	0.000000	0.05858	0.055000	0.19348	0.034000	0.12701	-0.726000	0.04936	-0.033000	0.13736	0.556000	0.70494	CGG		0.652	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		2	1	0	0	0	1	0	2	1					T	105398121	C	T	105398121	3	4	458	1	0	0	0	0	1	0	0	0	12048	643	23	2	981	2	PLD4	14	105398121	Missense_Mutation	SNP	C	TCGA-YL-A8SF-01A-11D-A377-08		105398121	1951419	17	31210											
CILP	8483	broad.mit.edu	37	chr15	65496880	65496880	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacatgcaggcatcacaGtcagcattcacctggcccat	10	8	9	14	0	3	0	3	0	0	0	3	0	3	0	2	3	2	4	2	3	0	1			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr15:65496880G>C	ENST00000261883.4	-	6	811	c.645C>G	c.(643-645)gaC>gaG	p.D215E		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	215					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AGGCATCACAGTCAGCATTCA	0.577																																						ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(643-645)gaC>gaG		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							55	53	54					15																	65496880		2201	4299	6500	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65496880G>C	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.645C>G	15.37:g.65496880G>C	ENSP00000261883:p.Asp215Glu						p.D215E	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			6	811	-			215					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.645C>G	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	G	9.429	1.084968	0.20390	.	.	ENSG00000138615	ENST00000261883	T	0.37058	1.22	5.63	1.55	0.23275	.	0.231504	0.50627	N	0.000101	T	0.24392	0.0591	L	0.49640	1.575	0.34807	D	0.737358	B	0.06786	0.001	B	0.09377	0.004	T	0.36359	-0.9751	10	0.05721	T	0.95	-9.1761	8.1266	0.31003	0.1352:0.2415:0.6233:0.0	.	215	O75339	CILP1_HUMAN	E	215	ENSP00000261883:D215E	ENSP00000261883:D215E	D	-	3	2	CILP	63283933	0.962000	0.33011	0.996000	0.52242	0.974000	0.67602	0.063000	0.14410	0.039000	0.15632	0.563000	0.77884	GAC		0.577	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		12	16	0	0	0	1	0	12	16					C	65496880	G	C	65496880	3	2	458	1	0	0	0	0	1	0	0	0	3429	1020	36	5	2925	5	CILP	15	65496880	Missense_Mutation	SNP	G	TCGA-YL-A8SF-01A-11D-A377-08		65496880	37034512	18	31211											
USP31	57478	broad.mit.edu	37	chr16	23080009	23080009	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcccaggtgggaaagggctCcttgtggcagggcccgaggc	6	7	17	11	1	0	0	0	0	0	0	2	2	2	1	3	6	0	2	3	6	1	2			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr16:23080009C>A	ENST00000219689.7	-	16	3416	c.3417G>T	c.(3415-3417)agG>agT	p.R1139S	USP31_ENST00000567975.1_Missense_Mutation_p.R432S	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGAAAGGGCTCCTTGTGGCAG	0.592																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(3415-3417)agG>agT		ubiquitin specific peptidase 31							64	68	67					16																	23080009		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080009C>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3417G>T	16.37:g.23080009C>A	ENSP00000219689:p.Arg1139Ser					USP31_ENST00000567975.1_Missense_Mutation_p.R432S	p.R1139S	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3416	-			1139			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.3417G>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	8.829	0.939467	0.18281	.	.	ENSG00000103404	ENST00000219689	T	0.10288	2.89	5.8	3.81	0.43845	.	2.079960	0.02497	N	0.090052	T	0.17619	0.0423	L	0.29908	0.895	0.35535	D	0.802553	P;D	0.55605	0.799;0.972	B;P	0.54100	0.323;0.742	T	0.03773	-1.1005	10	0.33940	T	0.23	-23.2872	8.1676	0.31237	0.0:0.7494:0.0:0.2506	.	1139;432	Q70CQ4;B3KS48	UBP31_HUMAN;.	S	1139	ENSP00000219689:R1139S	ENSP00000219689:R1139S	R	-	3	2	USP31	22987510	1.000000	0.71417	0.984000	0.44739	0.752000	0.42762	1.953000	0.40352	0.739000	0.32628	-0.136000	0.14681	AGG		0.592	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		27	41	1	0	2.4375e-19	1	2.4375e-19	27	41					A	23080009	C	A	23080009	3	1	458	1	0	0	0	0	1	0	0	0	17059	854	30	5	645	5	USP31	16	23080009	Missense_Mutation	SNP	C	TCGA-YL-A8SF-01A-11D-A377-08		23080009	67274744	19	31212											
ZNF668	79759	broad.mit.edu	37	chr16	31072951	31072951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccacgcccacaggcagcGccaaccccaccaccagctcc	9	2	7	23	2	0	0	0	0	0	0	1	0	1	0	8	1	4	2	8	1	1	0			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr16:31072951G>A	ENST00000538906.1	-	3	2082	c.1298C>T	c.(1297-1299)gCg>gTg	p.A433V	ZNF668_ENST00000417110.2_Missense_Mutation_p.A47T|ZNF668_ENST00000539836.3_Missense_Mutation_p.A456V|ZNF668_ENST00000300849.4_Missense_Mutation_p.A433V|ZNF668_ENST00000394983.2_Missense_Mutation_p.A433V|ZNF668_ENST00000535577.1_Missense_Mutation_p.A433V|ZNF668_ENST00000426488.2_Missense_Mutation_p.A456V	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CACAGGCAGCGCCAACCCCAC	0.706																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1297-1299)gCg>gTg		zinc finger protein 668							43	51	48					16																	31072951		2197	4299	6496	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072951G>A		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1298C>T	16.37:g.31072951G>A	ENSP00000440149:p.Ala433Val					ZNF668_ENST00000300849.4_Missense_Mutation_p.A433V|ZNF668_ENST00000426488.2_Missense_Mutation_p.A456V|ZNF668_ENST00000535577.1_Missense_Mutation_p.A433V|ZNF668_ENST00000394983.2_Missense_Mutation_p.A433V|ZNF668_ENST00000417110.2_Missense_Mutation_p.A47T|ZNF668_ENST00000539836.3_Missense_Mutation_p.A456V	p.A433V	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			3	2082	-			433					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.1298C>T	CCDS10701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.79|16.79	3.220980|3.220980	0.58560|0.58560	.|.	.|.	ENSG00000232748|ENSG00000167394	ENST00000417110|ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	.|T;T;T;T;T	.|0.08193	.|3.12;3.13;3.13;3.13;3.13	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.337163|0.337163	0.23305|0.23305	N|N	0.049631|0.049631	T|T	0.04497|0.04497	0.0123|0.0123	N|N	0.08118|0.08118	0|0	0.40920|0.40920	D|D	0.984308|0.984308	.|D	.|0.56968	.|0.978	.|B	.|0.36766	.|0.232	T|T	0.49969|0.49969	-0.8882|-0.8882	7|10	0.87932|0.49607	D|T	0|0.09	-19.6215|-19.6215	14.9766|14.9766	0.71277|0.71277	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|433	.|Q96K58	.|ZN668_HUMAN	T|V	47|456;433;433;433;433	.|ENSP00000442573:A456V;ENSP00000441349:A433V;ENSP00000440149:A433V;ENSP00000378434:A433V;ENSP00000300849:A433V	ENSP00000391989:A47T|ENSP00000300849:A433V	A|A	+|-	1|2	0|0	AC135050.1|ZNF668	30980452|30980452	0.998000|0.998000	0.40836|0.40836	0.976000|0.976000	0.42696|0.42696	0.906000|0.906000	0.53458|0.53458	3.138000|3.138000	0.50570|0.50570	2.531000|2.531000	0.85337|0.85337	0.462000|0.462000	0.41574|0.41574	GCC|GCG		0.706	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		4	83	0	0	0	1	0	4	83					A	31072951	G	A	31072951	3	1	458	1	0	0	0	0	1	0	0	0	18072	1087	38	1	565	1	ZNF668	16	31072951	Missense_Mutation	SNP	G	TCGA-YL-A8SF-01A-11D-A377-08	7992942	31072951	59281802	20	31213											
PRR12	57479	broad.mit.edu	37	chr19	50123646	50123646	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtctgctcaaaaccagggcGatgcgggagatgtaccggag	10	6	15	10	4	2	1	1	0	1	1	2	4	2	2	2	3	4	2	2	3	3	1	rs189353817	byFrequency	TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr19:50123646G>A	ENST00000418929.2	+	10	5547	c.5535G>A	c.(5533-5535)gcG>gcA	p.A1845A		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1024							DNA binding (GO:0003677)			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)		AAACCAGGGCGATGCGGGAGA	0.587													G|||	2	0.000399361	0	0	5008	,	,		16613	0		0.002	False		,,,				2504	0					ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(5533-5535)gcG>gcA		proline rich 12							47	51	49					19																	50123646		2138	4244	6382	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50123646G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.5535G>A	19.37:g.50123646G>A							p.A1845A	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	10	5547	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	1024					E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.5535G>A	CCDS46143.1																																																																																				0.587	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		3	6	0	0	0	1	0	3	6					A	50123646	G	A	50123646	2	1	458	1	0	0	0	0	0	0	0	1	12584	1045	37	2		2	PRR12	19	50123646	Silent	SNP	G	TCGA-YL-A8SF-01A-11D-A377-08		50123646	9005337	21	31214											
SPIB	6689	broad.mit.edu	37	chr19	50931439	50931439	+	Frame_Shift_Del	DEL	G	G	-																															ggaactcctggcgcgccgctGgggccagcagaaggggaacc																										TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr19:50931439delG	ENST00000595883.1	+	6	660	c.635delG	c.(634-636)tggfs	p.W212fs	SPIB_ENST00000270632.7_3'UTR|SPIB_ENST00000596074.1_3'UTR|CTD-2545M3.6_ENST00000599632.1_Frame_Shift_Del_p.L346fs|SPIB_ENST00000439922.2_Frame_Shift_Del_p.W121fs	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	212					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCGCGCCGCTGGGGCCAGCAG	0.672																																						ENST00000595883.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14						c.(634-636)tgfs		Spi-B transcription factor (Spi-1/PU.1 related)							25	25	25					19																	50931439		2189	4286	6475	SO:0001589	frameshift_variant	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50931439delG		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.635delG	19.37:g.50931439delG	ENSP00000471921:p.Trp212fs					SPIB_ENST00000270632.7_3'UTR|SPIB_ENST00000596074.1_3'UTR|SPIB_ENST00000439922.2_Frame_Shift_Del_p.W121fs	p.W212fs	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	6	660	+		all_neural(266;0.131)	212					A8K9C9|B4DUG6|Q15359	Frame_Shift_Del	DEL	ENST00000595883.1	37	c.635delG	CCDS33080.1																																																																																				0.672	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		2	4						2	4	---	---	---	---	-	50931439	G	-	50931439	7	5	458	1	0	1	0	1	0	0	0	0	15049	1357	47	0	657	0	SPIB	19	50931439	Frame_Shift_Del	DEL	G	TCGA-YL-A8SF-01A-11D-A377-08	807793	50931439	8197544	22	31215											
CLCN6	1185	broad.mit.edu	37	chr1	11889328	11889328	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcgatggtgttaggagaatgCcgacagatgtcctcttcgag	9	11	13	8	3	1	2	0	0	1	2	4	6	2	2	2	2	1	1	2	2	2	2			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr1:11889328C>T	ENST00000346436.6	+	13	1249	c.1197C>T	c.(1195-1197)tgC>tgT	p.C399C	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Silent_p.C399C|CLCN6_ENST00000312413.6_Missense_Mutation_p.P344S|CLCN6_ENST00000376487.3_Silent_p.C377C	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	399					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			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)		TAGGAGAATGCCGACAGATGT	0.512																																						ENST00000312413.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(1030-1032)Ccg>Tcg		chloride channel, voltage-sensitive 6							254	227	236					1																	11889328		2203	4300	6503	SO:0001819	synonymous_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11889328C>T	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1197C>T	1.37:g.11889328C>T						CLCN6_ENST00000346436.6_Silent_p.C399C|CLCN6_ENST00000376496.3_Silent_p.C399C|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376487.3_Silent_p.C377C	p.P344S			P51797	CLCN6_HUMAN		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)	12	1143	+	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)	0					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.1030C>T	CCDS138.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.570182	0.45798	.	.	ENSG00000011021	ENST00000312413;ENST00000376492	D	0.92149	-2.98	5.83	2.96	0.34315	.	.	.	.	.	D	0.85318	0.5669	.	.	.	0.26407	N	0.976323	B	0.14805	0.011	B	0.15484	0.013	T	0.73107	-0.4087	8	0.30078	T	0.28	-30.8747	8.0601	0.30627	0.0:0.6966:0.0:0.3034	.	344	P51797-3	.	S	344	ENSP00000308367:P344S	ENSP00000308367:P344S	P	+	1	0	CLCN6	11811915	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	1.380000	0.34351	0.811000	0.34303	-0.140000	0.14226	CCG		0.512	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		3	60	0	0	0	1	0	3	60					T	11889328	C	T	11889328	2	4	459	1	0	0	0	0	0	0	0	1	3467	748	26	3		3	CLCN6	1	11889328	Silent	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08		11889328	237361293	1	31216											
LPPR5	163404	broad.mit.edu	37	chr1	99380467	99380467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttgaaattattcaccaCgcacacaacctaaaatttca	15	11	2	13	1	2	1	2	1	0	0	2	1	2	1	3	0	1	1	3	0	5	5			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr1:99380467C>T	ENST00000263177.4	-	5	1029	c.808G>A	c.(808-810)Gtg>Atg	p.V270M	LPPR5_ENST00000370188.3_Missense_Mutation_p.V270M	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		270						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										TTATTCACCACGCACACAACC	0.393																																						ENST00000370188.3																			0											c.(808-810)Gtg>Atg									158	152	154					1																	99380467		2203	4300	6503	SO:0001583	missense	0					integral to membrane	hydrolase activity	g.chr1:99380467C>T																												ENST00000263177.4:c.808G>A	1.37:g.99380467C>T	ENSP00000263177:p.Val270Met					LPPR5_ENST00000263177.4_Missense_Mutation_p.V270M	p.V270M	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			5	1168	-			270					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.808G>A	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672630	0.88348	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.75477	-0.94;-0.94	5.98	5.98	0.97165	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.063249	0.64402	D	0.000006	D	0.88355	0.6414	M	0.89840	3.065	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.89456	0.3733	10	0.87932	D	0	.	19.4463	0.94849	0.0:1.0:0.0:0.0	.	270;270	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	M	270	ENSP00000359207:V270M;ENSP00000263177:V270M	ENSP00000263177:V270M	V	-	1	0	AL161744.1	99153055	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.698000	0.74608	2.835000	0.97688	0.650000	0.86243	GTG		0.393	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			4	99	0	0	0	1	0	4	99					T	99380467	C	T	99380467	3	4	459	1	0	0	0	0	1	0	0	0	8928	536	19	1	165	1	LPPR5	1	99380467	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08	87491139	99380467	149870154	2	31217											
SV2A	9900	broad.mit.edu	37	chr1	149883419	149883419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaaagatgagaagaaggCgaagacgctgttgactgaga	17	5	14	5	2	0	6	0	3	0	5	0	10	0	6	0	1	0	2	0	1	5	1	rs200101517		TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr1:149883419C>T	ENST00000369146.3	-	3	1226	c.736G>A	c.(736-738)Gcc>Acc	p.A246T	SV2A_ENST00000369145.1_Missense_Mutation_p.A246T	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	246					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			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)	GAGAAGAAGGCGAAGACGCTG	0.577																																						ENST00000369146.3																			0				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						c.(736-738)Gcc>Acc		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						129	94	106					1																	149883419		2203	4300	6503	SO:0001583	missense	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149883419C>T	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.736G>A	1.37:g.149883419C>T	ENSP00000358142:p.Ala246Thr					SV2A_ENST00000369145.1_Missense_Mutation_p.A246T	p.A246T	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		3	1226	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		246					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.736G>A	CCDS940.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922107	0.92319	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.56776	0.44;0.44	5.2	5.2	0.72013	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.121063	0.56097	D	0.000036	T	0.49457	0.1558	L	0.49126	1.545	0.58432	D	0.999999	D	0.67145	0.996	D	0.62955	0.909	T	0.45279	-0.9272	10	0.07030	T	0.85	-19.2459	16.2778	0.82654	0.0:1.0:0.0:0.0	.	246	Q7L0J3	SV2A_HUMAN	T	246	ENSP00000358142:A246T;ENSP00000358141:A246T	ENSP00000358141:A246T	A	-	1	0	SV2A	148150043	0.996000	0.38824	0.999000	0.59377	0.974000	0.67602	2.965000	0.49200	2.711000	0.92665	0.655000	0.94253	GCC		0.577	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			4	9	0	0	0	1	0	4	9					T	149883419	C	T	149883419	3	4	459	1	0	0	0	0	1	0	0	0	15414	768	27	1	1536	1	SV2A	1	149883419	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08	50502952	149883419	99367202	3	31218											
USH2A	7399	broad.mit.edu	37	chr1	216246603	216246603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgccaagttaacgacagcaCcccgtgtaaatttaacatcc	14	9	6	12	2	0	0	0	0	0	0	1	1	1	0	4	0	4	3	4	0	5	4	rs140895792	byFrequency	TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr1:216246603C>T	ENST00000307340.3	-	28	5998	c.5612G>A	c.(5611-5613)gGt>gAt	p.G1871D	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.G1871D|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1871	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			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)		AACGACAGCACCCCGTGTAAA	0.443										HNSCC(13;0.011)			C|||	8	0.00159744	0.0061	0	5008	,	,		18422	0		0	False		,,,				2504	0					ENST00000366943.2																			0				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						c.(5611-5613)gGt>gAt		Usher syndrome 2A (autosomal recessive, mild)		C	ASP/GLY	13,4393	20.2+/-43.8	0,13,2190	78	64	69		5612	5.9	1	1	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	yes	missense	USH2A	NM_206933.2	94	0,14,6489	TT,TC,CC		0.0116,0.2951,0.1076	probably-damaging	1871/5203	216246603	14,12992	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216246603C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5612G>A	1.37:g.216246603C>T	ENSP00000305941:p.Gly1871Asp	HNSCC(13;0.011)				RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.G1871D|RP11-22M7.2_ENST00000446411.1_RNA	p.G1871D			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	28	5998	-			1871			Fibronectin type-III 5.|Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5612G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359386	0.82353	0.002951	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943	D;D	0.82081	-1.57;-1.57	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (3);Laminin G domain (2);	0.000000	0.45867	D	0.000322	D	0.91805	0.7407	M	0.81239	2.535	0.43133	D	0.99487	D	0.89917	1.0	D	0.81914	0.995	D	0.90759	0.4663	10	0.45353	T	0.12	.	20.3507	0.98813	0.0:1.0:0.0:0.0	.	1871	O75445	USH2A_HUMAN	D	1871	ENSP00000305941:G1871D;ENSP00000355910:G1871D	ENSP00000305941:G1871D	G	-	2	0	USH2A	214313226	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.754000	0.62191	2.808000	0.96608	0.655000	0.94253	GGT		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		10	6	0	0	0	1	0	10	6					T	216246603	C	T	216246603	3	4	459	1	0	0	0	0	1	0	0	0	17033	507	18	3	10176	3	USH2A	1	216246603	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08	66363184	216246603	33004018	4	31219											
OR2M7	391196	broad.mit.edu	37	chr1	248487356	248487356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaagtgggctatttccCgagacccacagtaggagaag	13	6	13	9	1	0	3	0	0	0	3	1	5	1	3	2	2	1	3	2	2	4	3	rs145948434		TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr1:248487356C>A	ENST00000317965.2	-	1	543	c.515G>T	c.(514-516)cGg>cTg	p.R172L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R172L(1)|p.R172Q(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCTATTTCCCGAGACCCACA	0.433																																						ENST00000317965.2																			2	Substitution - Missense(2)	p.R172L(1)|p.R172Q(1)	lung(1)|skin(1)	breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(514-516)cGg>cTg		olfactory receptor, family 2, subfamily M, member 7							178	185	183					1																	248487356		2203	4298	6501	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487356C>A	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"GPCR / Class A : Olfactory receptors"	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.515G>T	1.37:g.248487356C>A	ENSP00000324557:p.Arg172Leu						p.R172L	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	543	-	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)		172					B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.515G>T	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	C	7.321	0.616938	0.14129	.	.	ENSG00000177186	ENST00000317965	T	0.00115	8.71	1.54	0.552	0.17230	GPCR, rhodopsin-like superfamily (1);	0.295108	0.18339	U	0.144258	T	0.00144	0.0004	L	0.56199	1.76	0.09310	N	1	B	0.17268	0.021	B	0.24394	0.053	T	0.39313	-0.9620	10	0.59425	D	0.04	.	3.5068	0.07693	0.0:0.4143:0.0:0.5857	.	172	Q8NG81	OR2M7_HUMAN	L	172	ENSP00000324557:R172L	ENSP00000324557:R172L	R	-	2	0	OR2M7	246553979	0.002000	0.14202	0.390000	0.26220	0.131000	0.20780	0.708000	0.25719	0.845000	0.35118	0.184000	0.17185	CGG		0.433	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		4	159	1	0	0.00909568	1	0.00909568	4	159					A	248487356	C	A	248487356	3	1	459	1	0	0	0	0	1	0	0	0	11014	652	23	5	426	5	OR2M7	1	248487356	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08	32240753	248487356	763265	5	31220											
ALMS1	7840	broad.mit.edu	37	chr2	73717897	73717897	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagtgcaaagccccataTgtagatcatcaaatgagaga	17	7	9	8	0	2	3	2	1	0	2	2	5	2	3	2	0	3	2	2	0	5	2	rs541559170	byFrequency	TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr2:73717897T>G	ENST00000264448.6	+	10	8919	c.8808T>G	c.(8806-8808)taT>taG	p.Y2936*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Y2894*|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2936					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				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						AAGCCCCATATGTAGATCATC	0.428																																						ENST00000264448.6																			0				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						c.(8806-8808)taT>taG		Alstrom syndrome 1							199	184	189					2																	73717897		1886	4109	5995	SO:0001587	stop_gained	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717897T>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8808T>G	2.37:g.73717897T>G	ENSP00000264448:p.Tyr2936*					ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Y2894*	p.Y2936*	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			10	8919	+			2936					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Nonsense_Mutation	SNP	ENST00000264448.6	37	c.8808T>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	t	47	13.098870	0.99719	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	.	.	.	4.78	1.04	0.20106	.	0.694941	0.13228	N	0.403881	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	5.4028	0.16305	0.0:0.09:0.3465:0.5635	.	.	.	.	X	2894;2936	.	ENSP00000264448:Y2936X	Y	+	3	2	ALMS1	73571405	0.076000	0.21285	0.016000	0.15963	0.021000	0.10359	0.421000	0.21280	0.177000	0.19895	-0.299000	0.09455	TAT		0.428	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		5	136	0	0	0	1	0	5	136					G	73717897	T	G	73717897	4	3	459	1	0	0	0	0	0	1	0	0	535	1471	51	5	8846	5	ALMS1	2	73717897	Nonsense_Mutation	SNP	T	TCGA-YL-A8SH-01B-11D-A377-08		73717897	169481476	6	31221											
MARCO	8685	broad.mit.edu	37	chr2	119726816	119726816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatcctgctcaccgctggcGctgggctgctggtggtccaa	4	10	14	13	2	1	1	1	1	0	0	3	1	3	1	3	4	2	5	3	4	1	0	rs535947483	byFrequency	TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr2:119726816G>A	ENST00000327097.4	+	2	313	c.178G>A	c.(178-180)Gct>Act	p.A60T	MARCO_ENST00000541757.1_De_novo_Start_OutOfFrame	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	60					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CACCGCTGGCGCTGGGCTGCT	0.597																																					GBM(8;18 374 7467 11269 32796)	ENST00000541757.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70								macrophage receptor with collagenous structure							111	101	104					2																	119726816		2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119726816G>A	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.178G>A	2.37:g.119726816G>A	ENSP00000318916:p.Ala60Thr					MARCO_ENST00000327097.4_Missense_Mutation_p.A60T				Q9UEW3	MARCO_HUMAN			0	324	+								B4DW79|Q9Y5S3	Translation_Start_Site	SNP	ENST00000327097.4	37		CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	9.535	1.111800	0.20714	.	.	ENSG00000019169	ENST00000327097;ENST00000410021	D	0.89617	-2.54	4.54	1.73	0.24493	.	1.724340	0.03251	N	0.181929	T	0.78039	0.4221	N	0.11201	0.11	0.09310	N	0.999998	B	0.21147	0.052	B	0.10450	0.005	T	0.64415	-0.6413	9	.	.	.	.	5.9794	0.19399	0.3356:0.0:0.6644:0.0	.	60	Q9UEW3	MARCO_HUMAN	T	60	ENSP00000318916:A60T	.	A	+	1	0	MARCO	119443286	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.296000	0.08287	0.164000	0.19529	0.655000	0.94253	GCT		0.597	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		17	45	0	0	0	1	0	17	45					A	119726816	G	A	119726816	3	1	459	1	0	0	0	0	1	0	0	0	9311	1087	38	1	184	1	MARCO	2	119726816	Missense_Mutation	SNP	G	TCGA-YL-A8SH-01B-11D-A377-08	46008919	119726816	123472557	7	31222											
TFCP2L1	29842	broad.mit.edu	37	chr2	122007205	122007205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttccgattctccagtagtCggatttcataagactgacct	9	13	8	11	2	2	2	1	1	1	1	5	4	3	3	3	1	0	2	3	1	2	5			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr2:122007205C>T	ENST00000263707.5	-	3	330	c.233G>A	c.(232-234)cGa>cAa	p.R78Q		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	78					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CTCCAGTAGTCGGATTTCATA	0.458																																						ENST00000263707.5																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22						c.(232-234)cGa>cAa		transcription factor CP2-like 1							110	116	114					2																	122007205		2203	4300	6503	SO:0001583	missense	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:122007205C>T	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.233G>A	2.37:g.122007205C>T	ENSP00000263707:p.Arg78Gln						p.R78Q	NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN			3	330	-	Renal(3;0.01)		78					Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	37	c.233G>A	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	C	34	5.315284	0.95655	.	.	ENSG00000115112	ENST00000263707	T	0.17213	2.29	5.76	5.76	0.90799	CP2 transcription factor (1);	0.129573	0.53938	D	0.000053	T	0.28566	0.0707	L	0.52126	1.63	0.80722	D	1	B;P	0.50156	0.193;0.932	B;P	0.49953	0.148;0.627	T	0.00191	-1.1936	10	0.34782	T	0.22	.	19.9857	0.97347	0.0:1.0:0.0:0.0	.	78;78	Q5JV87;Q9NZI6	.;TF2L1_HUMAN	Q	78	ENSP00000263707:R78Q	ENSP00000263707:R78Q	R	-	2	0	TFCP2L1	121723675	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.010000	0.70753	2.706000	0.92434	0.655000	0.94253	CGA		0.458	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		24	45	0	0	0	1	0	24	45					T	122007205	C	T	122007205	3	4	459	1	0	0	0	0	1	0	0	0	15793	884	31	2	1258	2	TFCP2L1	2	122007205	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08	2280389	122007205	121192168	8	31223											
POTEE	445582	broad.mit.edu	37	chr2	131976101	131976101	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggagagcggcaagagcaaCgtgggcacttctggagacca	12	4	16	9	2	1	3	0	0	1	3	1	5	1	3	1	4	3	3	1	4	2	1	rs558466498		TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr2:131976101C>T	ENST00000356920.5	+	1	220	c.126C>T	c.(124-126)aaC>aaT	p.N42N	POTEE_ENST00000358087.5_Silent_p.N42N|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	42					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GCAAGAGCAACGTGGGCACTT	0.592													c|||	1	0.000199681	0	0	5008	,	,		17826	0		0	False		,,,				2504	0.001					ENST00000356920.5																			0											c.(124-126)aaC>aaT		POTE ankyrin domain family, member E							131	151	144					2																	131976101		2194	4298	6492	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:131976101C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.126C>T	2.37:g.131976101C>T						PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Silent_p.N42N	p.N42N	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	220	+			42					Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.126C>T	CCDS46414.1																																																																																				0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		4	160	0	0	0	1	0	4	160					T	131976101	C	T	131976101	2	4	459	1	0	0	0	0	0	0	0	1	12264	535	19	1		1	POTEE	2	131976101	Silent	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08	9968896	131976101	111223272	9	31224											
ITGA2	3673	broad.mit.edu	37	chr5	52344214	52344214	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtggtcctctgtgggcaCagcaatgtgggaatcagtat	9	11	13	8	0	2	0	1	0	1	0	3	1	3	1	1	3	1	3	1	3	3	1			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr5:52344214C>A	ENST00000296585.5	+	5	552	c.409C>A	c.(409-411)Cag>Aag	p.Q137K		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	137					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			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)				TCTGTGGGCACAGCAATGTGG	0.438																																						ENST00000296585.5																			0				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						c.(409-411)Cag>Aag		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							150	144	146					5																	52344214		2203	4300	6503	SO:0001583	missense	3673				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	g.chr5:52344214C>A		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.409C>A	5.37:g.52344214C>A	ENSP00000296585:p.Gln137Lys						p.Q137K	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			5	552	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	137					Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.409C>A	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.346923	0.41599	.	.	ENSG00000164171	ENST00000296585	D	0.91894	-2.93	5.34	5.34	0.76211	.	0.259371	0.39909	N	0.001235	D	0.90933	0.7150	M	0.64170	1.965	0.80722	D	1	B;B	0.20052	0.006;0.041	B;B	0.19391	0.02;0.025	D	0.87244	0.2268	10	0.27082	T	0.32	.	19.0411	0.92999	0.0:1.0:0.0:0.0	.	137;137	E7ESP4;P17301	.;ITA2_HUMAN	K	137	ENSP00000296585:Q137K	ENSP00000296585:Q137K	Q	+	1	0	ITGA2	52379971	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.753000	0.68736	2.482000	0.83794	0.557000	0.71058	CAG		0.438	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		13	6	1	0	1.5842e-08	1	1.77058e-08	13	6					A	52344214	C	A	52344214	3	1	459	1	0	0	0	0	1	0	0	0	7875	479	17	5	427	5	ITGA2	5	52344214	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08		52344214	128571046	10	31225											
NRG2	9542	broad.mit.edu	37	chr5	139232068	139232068	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtggtgagaaggagaacagGagtggctcccagagaaggtg	13	5	18	5	0	0	3	0	1	0	3	1	7	1	4	1	5	1	1	1	5	3	0	rs377110446		TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr5:139232068G>C	ENST00000361474.1	-	8	1717	c.1493C>G	c.(1492-1494)tCc>tGc	p.S498C	NRG2_ENST00000358522.3_Missense_Mutation_p.S500C|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000289422.7_Missense_Mutation_p.S506C|NRG2_ENST00000545385.1_Missense_Mutation_p.S500C|NRG2_ENST00000541337.1_Missense_Mutation_p.S432C|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000289409.4_Missense_Mutation_p.S492C|NRG2_ENST00000340391.3_Missense_Mutation_p.S295C	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	498					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAACAGGAGTGGCTCCC	0.537																																						ENST00000541337.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1294-1296)tCc>tGc		neuregulin 2		G	CYS/SER,CYS/SER,CYS/SER,CYS/SER,CYS/SER	0,4406		0,0,2203	230	180	197		1295,1493,1475,1517,1499	5.2	1	5		197	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NRG2	NM_001184935.1,NM_004883.2,NM_013981.3,NM_013982.2,NM_013983.2	112,112,112,112,112	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	432/785,498/851,492/845,506/859,500/853	139232068	1,13005	2203	4300	6503	SO:0001583	missense	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139232068G>C		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1493C>G	5.37:g.139232068G>C	ENSP00000354910:p.Ser498Cys					CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000289422.7_Missense_Mutation_p.S506C|NRG2_ENST00000545385.1_Missense_Mutation_p.S500C|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000361474.1_Missense_Mutation_p.S498C|NRG2_ENST00000340391.3_Missense_Mutation_p.S295C|NRG2_ENST00000358522.3_Missense_Mutation_p.S500C|NRG2_ENST00000289409.4_Missense_Mutation_p.S492C	p.S432C	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1524	-			498						Missense_Mutation	SNP	ENST00000361474.1	37	c.1295C>G	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059049	0.55325	0.0	1.16E-4	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000340391;ENST00000289409;ENST00000358522	T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.25	5.25	0.73442	Neuregulin 1-related, C-terminal (1);	0.145792	0.47852	D	0.000207	T	0.65312	0.2679	L	0.52364	1.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.72982	0.965;0.979;0.965;0.965	T	0.63466	-0.6631	10	0.40728	T	0.16	-22.7132	13.7792	0.63073	0.0:0.0:0.8465:0.1535	.	492;498;500;506	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	C	432;506;498;506;500;295;492;500	ENSP00000444235:S432C;ENSP00000289422:S506C;ENSP00000354910:S498C;ENSP00000438753:S500C;ENSP00000342660:S295C;ENSP00000289409:S492C;ENSP00000351323:S500C	ENSP00000289409:S492C	S	-	2	0	NRG2	139212252	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.087000	0.41653	2.458000	0.83093	0.467000	0.42956	TCC		0.537	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		11	26	0	0	0	1	0	11	26					C	139232068	G	C	139232068	3	2	459	1	0	0	0	0	1	0	0	0	10648	1174	41	5	1071	5	NRG2	5	139232068	Missense_Mutation	SNP	G	TCGA-YL-A8SH-01B-11D-A377-08	86887854	139232068	41683192	11	31226											
PCDHGA8	9708	broad.mit.edu	37	chr5	140772818	140772818	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaaattaacgaaatcgcGgttcctggagcacgttatcc	13	10	9	9	4	0	0	0	0	0	0	3	2	2	1	2	2	2	4	2	2	6	4			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr5:140772818G>A	ENST00000398604.2	+	1	438	c.438G>A	c.(436-438)gcG>gcA	p.A146A	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	146	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGAAATCGCGGTTCCTGGAG	0.453																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(436-438)gcG>gcA									52	57	55					5																	140772818		1945	4156	6101	SO:0001819	synonymous_variant	0							g.chr5:140772818G>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.438G>A	5.37:g.140772818G>A						PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	p.A146A	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	438	+								A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.438G>A	CCDS47291.1																																																																																				0.453	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		26	39	0	0	0	1	0	26	39					A	140772818	G	A	140772818	2	1	459	1	0	0	0	0	0	0	0	1	11560	1103	39	2		2	PCDHGA8	5	140772818	Silent	SNP	G	TCGA-YL-A8SH-01B-11D-A377-08	1540750	140772818	40142442	12	31227											
C6orf89	221477	broad.mit.edu	37	chr6	36891198	36891198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttggtcatctgcgatggaaCcgctttctcagaactgtagg	8	13	11	9	2	3	1	2	0	2	1	4	3	3	2	1	3	3	2	1	3	3	3			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr6:36891198C>A	ENST00000480824.2	+	9	1319	c.1025C>A	c.(1024-1026)aCc>aAc	p.T342N	C6orf89_ENST00000355190.3_Missense_Mutation_p.T349N|C6orf89_ENST00000359359.2_Missense_Mutation_p.T236N|C6orf89_ENST00000510325.2_Missense_Mutation_p.T236N|C6orf89_ENST00000373685.1_Missense_Mutation_p.T342N			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	342					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						TGCGATGGAACCGCTTTCTCA	0.473																																						ENST00000480824.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						c.(1024-1026)aCc>aAc		chromosome 6 open reading frame 89							87	72	77					6																	36891198		2203	4300	6503	SO:0001583	missense	221477					integral to membrane		g.chr6:36891198C>A	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"bombesin receptor activated protein"					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.1025C>A	6.37:g.36891198C>A	ENSP00000475947:p.Thr342Asn					C6orf89_ENST00000373685.1_Missense_Mutation_p.T342N|C6orf89_ENST00000359359.2_Missense_Mutation_p.T236N|C6orf89_ENST00000510325.2_Missense_Mutation_p.T236N|C6orf89_ENST00000355190.3_Missense_Mutation_p.T349N	p.T342N			Q6UWU4	CF089_HUMAN			9	1319	+			342					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000480824.2	37	c.1025C>A		.	.	.	.	.	.	.	.	.	.	C	17.82	3.482801	0.63962	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685	.	.	.	5.56	5.56	0.83823	.	0.114234	0.64402	D	0.000008	T	0.65544	0.2701	M	0.62723	1.935	0.38208	D	0.94037	D;D	0.76494	0.999;0.999	D;D	0.64237	0.923;0.923	T	0.69235	-0.5198	9	0.66056	D	0.02	-0.4644	15.0388	0.71770	0.0:1.0:0.0:0.0	.	342;349	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	N	236;236;349;342	.	ENSP00000347322:T349N	T	+	2	0	C6orf89	36999176	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	3.818000	0.55678	2.634000	0.89283	0.561000	0.74099	ACC		0.473	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734		12	40	1	0	6.31663e-08	1	6.92399e-08	12	40					A	36891198	C	A	36891198	3	1	459	1	0	0	0	0	1	0	0	0	2373	507	18	5	1076	5	C6orf89	6	36891198	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08		36891198	134223869	13	31228											
TAAR8	83551	broad.mit.edu	37	chr6	132874616	132874616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctaaaaccctgggggtcaCggtactagcatttgttattt	10	13	10	8	1	1	0	1	0	0	0	1	0	1	0	1	3	4	4	1	3	5	6	rs553376051		TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr6:132874616C>T	ENST00000275200.1	+	1	785	c.785C>T	c.(784-786)aCg>aTg	p.T262M		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	262					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CTGGGGGTCACGGTACTAGCA	0.393													C|||	1	0.000199681	0	0	5008	,	,		16853	0		0	False		,,,				2504	0.001					ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(784-786)aCg>aTg		trace amine associated receptor 8							135	142	140					6																	132874616		2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874616C>T	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"GPCR / Class A : Trace amine associated receptors"	14964	protein-coding gene	gene with protein product		606927	"trace amine receptor 5"	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.785C>T	6.37:g.132874616C>T	ENSP00000275200:p.Thr262Met						p.T262M	NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	785	+	Breast(56;0.112)		262					Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.785C>T	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	C	9.504	1.103876	0.20632	.	.	ENSG00000146385	ENST00000275200	T	0.36340	1.26	4.72	0.192	0.15134	GPCR, rhodopsin-like superfamily (1);	0.241133	0.28577	N	0.014844	T	0.25269	0.0614	L	0.45228	1.405	0.09310	N	1	D	0.54601	0.967	P	0.57425	0.82	T	0.13229	-1.0517	10	0.59425	D	0.04	-14.1077	9.1451	0.36928	0.0:0.4997:0.0:0.5003	.	262	Q969N4	TAAR8_HUMAN	M	262	ENSP00000275200:T262M	ENSP00000275200:T262M	T	+	2	0	TAAR8	132916309	0.007000	0.16637	0.003000	0.11579	0.140000	0.21249	1.990000	0.40717	-0.026000	0.13895	-1.170000	0.01741	ACG		0.393	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		25	50	0	0	0	1	0	25	50					T	132874616	C	T	132874616	3	4	459	1	0	0	0	0	1	0	0	0	15490	536	19	1	787	1	TAAR8	6	132874616	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08	95983418	132874616	38240451	14	31229											
TBP	6908	broad.mit.edu	37	chr6	170871046	170871046	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcaacagcaAcagcagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0	rs369312237|rs62430309	byFrequency	TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr6:170871046A>G	ENST00000392092.2	+	3	501	c.222A>G	c.(220-222)caA>caG	p.Q74Q	TBP_ENST00000230354.6_Silent_p.Q74Q|TBP_ENST00000540980.1_Silent_p.Q54Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	74	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			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)		agcaacagcaacagcagcagc	0.567																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(220-222)caA>caG		TATA box binding protein							16	21	19					6																	170871046		1983	3871	5854	SO:0001819	synonymous_variant	6908				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	g.chr6:170871046A>G	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.222A>G	6.37:g.170871046A>G						TBP_ENST00000230354.6_Silent_p.Q74Q|TBP_ENST00000540980.1_Silent_p.Q54Q	p.Q74Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	501	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	74			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.222A>G	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		3	27	0	0	0	1	0	3	27					G	170871046	A	G	170871046	2	3	459	1	0	0	0	0	0	0	0	1	15641	40	2	4		4	TBP	6	170871046	Silent	SNP	A	TCGA-YL-A8SH-01B-11D-A377-08	37996430	170871046	244021	15	31230											
HGF	3082	broad.mit.edu	37	chr7	81359092	81359092	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtcattcatagtattgTcagctattggcaaaaaacaa	15	12	7	7	0	3	0	3	0	0	0	3	0	3	0	0	1	2	3	0	1	7	6			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr7:81359092T>C	ENST00000222390.5	-	8	1095	c.869A>G	c.(868-870)gAc>gGc	p.D290G	HGF_ENST00000457544.2_Missense_Mutation_p.D285G	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	290					activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CATAGTATTGTCAGCTATTGG	0.358																																						ENST00000222390.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(868-870)gAc>gGc		hepatocyte growth factor (hepapoietin A; scatter factor)							102	97	99					7																	81359092		2203	4300	6503	SO:0001583	missense	3082				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	g.chr7:81359092T>C		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.869A>G	7.37:g.81359092T>C	ENSP00000222390:p.Asp290Gly					HGF_ENST00000457544.2_Missense_Mutation_p.D285G	p.D290G	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			8	1095	-			290					A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.869A>G	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	T	6.167	0.398911	0.11696	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	T;T	0.62105	0.05;0.05	5.61	5.61	0.85477	Kringle (2);Kringle-like fold (1);	0.447497	0.27518	N	0.019006	T	0.46698	0.1406	N	0.24115	0.695	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.38265	-0.9669	10	0.27082	T	0.32	.	11.6784	0.51442	0.1324:0.0:0.0:0.8676	.	285;290	P14210-3;P14210	.;HGF_HUMAN	G	290;285	ENSP00000222390:D290G;ENSP00000391238:D285G	ENSP00000222390:D290G	D	-	2	0	HGF	81197028	0.977000	0.34250	1.000000	0.80357	0.117000	0.20001	2.304000	0.43655	2.254000	0.74563	0.533000	0.62120	GAC		0.358	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		21	42	0	0	0	1	0	21	42					C	81359092	T	C	81359092	3	2	459	1	0	0	0	0	1	0	0	0	7085	1667	58	4	1361	4	HGF	7	81359092	Missense_Mutation	SNP	T	TCGA-YL-A8SH-01B-11D-A377-08		81359092	77779571	16	31231											
LAMB1	3912	broad.mit.edu	37	chr7	107626753	107626753	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagtatctatacacacccCaggttttcccaaagtcggac	12	9	7	13	2	1	0	0	0	1	0	3	2	2	1	3	2	1	2	3	2	5	5			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr7:107626753C>A	ENST00000222399.6	-	6	709	c.479G>T	c.(478-480)tGg>tTg	p.W160L	LAMB1_ENST00000393561.1_Missense_Mutation_p.W184L|LAMB1_ENST00000393560.1_Missense_Mutation_p.W160L	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	160	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			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						ATACACACCCCAGGTTTTCCC	0.438																																						ENST00000393561.1																			0				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						c.(550-552)tGg>tTg		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						92	91	91					7																	107626753		2203	4300	6503	SO:0001583	missense	3912				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	g.chr7:107626753C>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.479G>T	7.37:g.107626753C>A	ENSP00000222399:p.Trp160Leu					LAMB1_ENST00000222399.6_Missense_Mutation_p.W160L|LAMB1_ENST00000393560.1_Missense_Mutation_p.W160L	p.W184L			P07942	LAMB1_HUMAN			4	735	-			160			Laminin N-terminal.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.551G>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	34	5.356967	0.95854	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.79033	-1.23;-1.23;-1.23	5.86	5.86	0.93980	Laminin, N-terminal (3);	.	.	.	.	D	0.92061	0.7484	H	0.94345	3.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.93404	0.6763	9	0.87932	D	0	.	20.1916	0.98230	0.0:1.0:0.0:0.0	.	160;160;184	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	L	184;160;160	ENSP00000377191:W184L;ENSP00000222399:W160L;ENSP00000377190:W160L	ENSP00000222399:W160L	W	-	2	0	LAMB1	107413989	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.818000	0.86416	2.770000	0.95276	0.655000	0.94253	TGG		0.438	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		15	40	1	0	2.61681e-11	1	2.98317e-11	15	40					A	107626753	C	A	107626753	3	1	459	1	0	0	0	0	1	0	0	0	8610	595	21	5	4997	5	LAMB1	7	107626753	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08	26267661	107626753	51511910	17	31232											
GOT1L1	137362	broad.mit.edu	37	chr8	37794525	37794525	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccacccacttggtgtcaaCttgcagtcgataatgttccc	8	11	8	14	1	1	0	1	0	0	0	3	1	2	0	3	1	2	2	3	1	2	4			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr8:37794525C>A	ENST00000307599.4	-	5	669	c.570G>T	c.(568-570)aaG>aaT	p.K190N	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	190					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TTGGTGTCAACTTGCAGTCGA	0.537																																						ENST00000307599.4																			0				central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(568-570)aaG>aaT		glutamic-oxaloacetic transaminase 1-like 1							142	156	151					8																	37794525		2049	4201	6250	SO:0001583	missense	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37794525C>A	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.570G>T	8.37:g.37794525C>A	ENSP00000303077:p.Lys190Asn						p.K190N	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		5	669	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	190					A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	c.570G>T	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	C	7.259	0.604839	0.14002	.	.	ENSG00000169154	ENST00000307599	D	0.90444	-2.67	4.66	-0.921	0.10472	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.178000	0.06441	N	0.725898	T	0.80829	0.4698	N	0.22421	0.69	0.09310	N	1	B	0.30973	0.302	B	0.28385	0.089	T	0.70128	-0.4957	10	0.72032	D	0.01	-6.7023	1.5989	0.02669	0.2677:0.4185:0.1329:0.1809	.	190	Q8NHS2	AATC2_HUMAN	N	190	ENSP00000303077:K190N	ENSP00000303077:K190N	K	-	3	2	GOT1L1	37913682	0.000000	0.05858	0.004000	0.12327	0.179000	0.23085	-0.734000	0.04893	0.072000	0.16694	0.484000	0.47621	AAG		0.537	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		14	29	1	0	4.3838e-07	1	4.71465e-07	14	29					A	37794525	C	A	37794525	3	1	459	1	0	0	0	0	1	0	0	0	6580	564	20	5	560	5	GOT1L1	8	37794525	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08		37794525	108569497	18	31233											
LRP12	29967	broad.mit.edu	37	chr8	105509398	105509398	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactttcaaacacacaacgaTtgtttttacaatggaaattt	16	14	4	7	1	1	0	1	0	0	0	1	2	1	1	0	1	4	1	0	1	6	6			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr8:105509398T>C	ENST00000276654.5	-	5	1490	c.1382A>G	c.(1381-1383)aAt>aGt	p.N461S	LRP12_ENST00000424843.2_Missense_Mutation_p.N442S|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	461	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			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)			CACACAACGATTGTTTTTACA	0.423																																						ENST00000276654.5																			0				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						c.(1381-1383)aAt>aGt		low density lipoprotein receptor-related protein 12							115	105	108					8																	105509398		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105509398T>C	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1382A>G	8.37:g.105509398T>C	ENSP00000276654:p.Asn461Ser					LRP12_ENST00000424843.2_Missense_Mutation_p.N442S	p.N461S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	1490	-			461			LDL-receptor class A 5.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.1382A>G	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.343013	0.61073	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.94966	-3.57;-3.57;-3.57	5.79	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.88640	0.6491	N	0.16201	0.385	0.80722	D	1	B;B	0.22746	0.06;0.074	B;B	0.27887	0.05;0.084	D	0.83873	0.0275	10	0.44086	T	0.13	-29.8765	11.8215	0.52240	0.0:0.0683:0.0:0.9317	.	442;461	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	S	442;461;50	ENSP00000399148:N442S;ENSP00000276654:N461S;ENSP00000429305:N50S	ENSP00000276654:N461S	N	-	2	0	LRP12	105578574	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	8.040000	0.89188	1.030000	0.39839	0.455000	0.32223	AAT		0.423	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		13	44	0	0	0	1	0	13	44					C	105509398	T	C	105509398	3	2	459	1	0	0	0	0	1	0	0	0	8954	1493	52	4	1209	4	LRP12	8	105509398	Missense_Mutation	SNP	T	TCGA-YL-A8SH-01B-11D-A377-08	67714873	105509398	40854624	19	31234											
GOLGA2	2801	broad.mit.edu	37	chr9	131027885	131027885	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctgccttcttctgctgCgtggagacagcagagagagc	7	10	13	11	1	3	3	0	0	3	3	3	5	3	3	1	1	5	2	1	1	0	2			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr9:131027885C>T	ENST00000421699.2	-	11	843	c.831G>A	c.(829-831)acG>acA	p.T277T	GOLGA2_ENST00000609374.1_Silent_p.T265T	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	277					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCTTCTGCTGCGTGGAGACAG	0.612																																						ENST00000421699.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(829-831)acG>acA		golgin A2							26	25	25					9																	131027885		2203	4300	6503	SO:0001819	synonymous_variant	2801					Golgi cisterna membrane	protein binding	g.chr9:131027885C>T	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.831G>A	9.37:g.131027885C>T							p.T277T	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			11	843	-			277					Q6GRM9|Q9BRB0|Q9NYF9	Silent	SNP	ENST00000421699.2	37	c.831G>A	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	0.132	-1.112798	0.01799	.	.	ENSG00000167110	ENST00000458730	.	.	.	5.72	-11.4	0.00090	.	.	.	.	.	T	0.40297	0.1111	.	.	.	0.40691	D	0.982395	.	.	.	.	.	.	T	0.50250	-0.8850	4	.	.	.	.	4.5879	0.12291	0.0723:0.2299:0.2727:0.4251	.	.	.	.	T	210	.	.	A	-	1	0	GOLGA2	130067706	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.197000	0.01240	-3.307000	0.00191	-1.054000	0.02325	GCA		0.612	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		5	15	0	0	0	1	0	5	15					T	131027885	C	T	131027885	2	4	459	1	0	0	0	0	0	0	0	1	6552	755	27	1		1	GOLGA2	9	131027885	Silent	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08		131027885	10185546	20	31235											
A1CF	29974	broad.mit.edu	37	chr10	52573721	52573721	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcttctcttttgtctcCtttgacctggtatcctcgac	3	20	6	12	1	3	1	0	1	3	0	7	2	4	1	3	1	0	1	3	1	1	6			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr10:52573721C>G	ENST00000373993.1	-	8	1287	c.1243G>C	c.(1243-1245)Gga>Cga	p.G415R	A1CF_ENST00000373995.3_Missense_Mutation_p.G415R|A1CF_ENST00000395489.2_Missense_Mutation_p.G408R|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395495.1_Missense_Mutation_p.G360R|A1CF_ENST00000282641.2_Missense_Mutation_p.G415R|A1CF_ENST00000374001.2_Missense_Mutation_p.G407R|A1CF_ENST00000373997.3_Missense_Mutation_p.G407R|A1CF_ENST00000493415.1_5'UTR			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	415					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CTTTTGTCTCCTTTGACCTGG	0.493																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1222-1224)Gga>Cga		APOBEC1 complementation factor							138	136	137					10																	52573721		2203	4300	6503	SO:0001583	missense	29974				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	g.chr10:52573721C>G	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1243G>C	10.37:g.52573721C>G	ENSP00000363105:p.Gly415Arg					A1CF_ENST00000374001.1_Missense_Mutation_p.G407R|A1CF_ENST00000395495.1_Missense_Mutation_p.G360R|A1CF_ENST00000373995.3_Missense_Mutation_p.G415R|A1CF_ENST00000282641.2_Missense_Mutation_p.G415R|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_Missense_Mutation_p.G407R|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373993.1_Missense_Mutation_p.G415R	p.G408R	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			12	1618	-			415			Required for nuclear localization.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1222G>C	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428032	0.43122	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.13538	2.74;2.76;2.74;2.73;2.76;2.58;2.76	5.87	5.87	0.94306	.	1.732920	0.03318	U	0.191521	T	0.25975	0.0633	L	0.33485	1.01	0.44181	D	0.996996	P;P;P;P	0.46277	0.875;0.779;0.859;0.683	B;B;P;P	0.51385	0.413;0.296;0.668;0.578	T	0.05683	-1.0870	10	0.25751	T	0.34	-11.3978	17.713	0.88327	0.0:1.0:0.0:0.0	.	408;415;407;415	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	R	407;415;407;415;415;360;390;408	ENSP00000363113:G407R;ENSP00000363105:G415R;ENSP00000363109:G407R;ENSP00000363107:G415R;ENSP00000282641:G415R;ENSP00000378873:G360R;ENSP00000378868:G408R	ENSP00000282641:G415R	G	-	1	0	A1CF	52243727	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	4.393000	0.59665	2.780000	0.95670	0.655000	0.94253	GGA		0.493	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		17	39	0	0	0	1	0	17	39					G	52573721	C	G	52573721	3	3	459	1	0	0	0	0	1	0	0	0	2	690	24	5	557	5	A1CF	10	52573721	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08		52573721	82961026	21	31236											
LRRTM3	347731	broad.mit.edu	37	chr10	68687766	68687766	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacagcatctgtggcaaaagTactacagagaggtttgatct	13	11	10	7	0	2	2	0	1	2	1	2	3	2	2	0	2	4	4	0	2	5	4			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr10:68687766T>G	ENST00000361320.4	+	2	1670	c.1092T>G	c.(1090-1092)agT>agG	p.S364R	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	364					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GTGGCAAAAGTACTACAGAGA	0.512																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(1090-1092)agT>agG		leucine rich repeat transmembrane neuronal 3							65	66	66					10																	68687766		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687766T>G	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1092T>G	10.37:g.68687766T>G	ENSP00000355187:p.Ser364Arg					CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron	p.S364R	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	1670	+			364					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.1092T>G	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	T	1.535	-0.543444	0.04053	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.44881	0.91	5.94	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.26376	0.0644	L	0.29908	0.895	0.37848	D	0.929273	B;B	0.18310	0.016;0.027	B;B	0.18263	0.009;0.021	T	0.10245	-1.0638	10	0.12103	T	0.63	.	8.2537	0.31741	0.0:0.2214:0.0:0.7786	.	364;364	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	R	364	ENSP00000355187:S364R	ENSP00000355187:S364R	S	+	3	2	LRRTM3	68357772	0.990000	0.36364	1.000000	0.80357	0.994000	0.84299	0.161000	0.16481	0.500000	0.27991	0.528000	0.53228	AGT		0.512	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		4	36	0	0	0	1	0	4	36					G	68687766	T	G	68687766	3	3	459	1	0	0	0	0	1	0	0	0	9041	1635	57	5	1098	5	LRRTM3	10	68687766	Missense_Mutation	SNP	T	TCGA-YL-A8SH-01B-11D-A377-08	16114045	68687766	66846981	22	31237											
C10orf54	64115	broad.mit.edu	37	chr10	73521465	73521465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatccagcagggtcaggttgCgcatggtgatggagaagttg	9	10	16	6	1	1	2	1	1	0	1	2	3	2	2	1	4	2	4	1	4	2	3	rs200235042	byFrequency	TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr10:73521465C>T	ENST00000394957.3	-	2	459	c.401G>A	c.(400-402)cGc>cAc	p.R134H	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	134	Ig-like.				BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GGTCAGGTTGCGCATGGTGAT	0.647													C|||	2	0.000399361	0	0	5008	,	,		22472	0.002		0	False		,,,				2504	0					ENST00000394957.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(400-402)cGc>cAc		chromosome 10 open reading frame 54							73	69	71					10																	73521465		2203	4300	6503	SO:0001583	missense	64115					integral to membrane	receptor activity	g.chr10:73521465C>T	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"Immunoglobulin superfamily / V-set domain containing"	30085	protein-coding gene	gene with protein product	"stress induced secreted protein 1"	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.401G>A	10.37:g.73521465C>T	ENSP00000378409:p.Arg134His					CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.1_5'UTR	p.R134H	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN			2	459	-			134			Ig-like.		A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	37	c.401G>A	CCDS31218.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.53	2.562276	0.45694	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.66280	-0.2	5.75	-6.8	0.01709	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.040480	0.07437	N	0.896600	T	0.35128	0.0921	N	0.17674	0.51	0.19300	N	0.999974	B;B	0.18013	0.025;0.002	B;B	0.09377	0.004;0.003	T	0.18461	-1.0336	10	0.48119	T	0.1	-0.7654	0.3776	0.00390	0.3311:0.2135:0.1402:0.3152	.	130;134	Q2TA85;Q9H7M9	.;GI24_HUMAN	H	134;130	ENSP00000378409:R134H	ENSP00000263569:R130H	R	-	2	0	C10orf54	73191471	0.000000	0.05858	0.542000	0.28115	0.970000	0.65996	-1.375000	0.02563	-1.017000	0.03367	0.655000	0.94253	CGC		0.647	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		3	17	0	0	0	1	0	3	17					T	73521465	C	T	73521465	3	4	459	1	0	0	0	0	1	0	0	0	1607	768	27	1	558	1	C10orf54	10	73521465	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08	4833699	73521465	62013282	23	31238											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118352048	118352048	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgggtgacagacatgTgcaaggtaggagccagctct	11	7	15	8	0	1	3	0	1	1	2	1	4	1	4	1	3	4	4	1	3	2	1			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr10:118352048T>A	ENST00000528052.1	+	4	396	c.325T>A	c.(325-327)Tgc>Agc	p.C109S	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.C109S|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.C109S|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.C109S|PNLIPRP1_ENST00000480870.2_3'UTR			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	109					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GACAGACATGTGCAAGGTAGG	0.448																																						ENST00000528052.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38						c.(325-327)Tgc>Agc		pancreatic lipase-related protein 1							83	81	82					10																	118352048		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118352048T>A	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.325T>A	10.37:g.118352048T>A	ENSP00000433933:p.Cys109Ser					PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.C109S|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.C109S|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.C109S	p.C109S			P54315	LIPR1_HUMAN		all cancers(201;0.0161)	4	396	+			109					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.325T>A	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.933653	0.52866	.	.	ENSG00000187021	ENST00000531984;ENST00000358834;ENST00000528052;ENST00000442761;ENST00000530319;ENST00000527980;ENST00000471549;ENST00000534537	D;D;D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.21	5.21	0.72293	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94955	0.8368	M	0.77820	2.39	0.58432	D	0.999999	D;D	0.89917	1.0;0.985	D;D	0.97110	1.0;0.943	D	0.95501	0.8577	10	0.87932	D	0	-10.1575	14.3502	0.66697	0.0:0.0:0.0:1.0	.	109;109	P54315;P54315-2	LIPR1_HUMAN;.	S	109	ENSP00000436123:C109S;ENSP00000351695:C109S;ENSP00000433933:C109S;ENSP00000400963:C109S;ENSP00000437263:C109S;ENSP00000433785:C109S;ENSP00000431207:C109S;ENSP00000434159:C109S	ENSP00000351695:C109S	C	+	1	0	PNLIPRP1	118342038	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	6.212000	0.72188	2.088000	0.63022	0.533000	0.62120	TGC		0.448	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		12	28	0	0	0	1	0	12	28					A	118352048	T	A	118352048	3	1	459	1	0	0	0	0	1	0	0	0	12150	1696	59	5	335	5	PNLIPRP1	10	118352048	Missense_Mutation	SNP	T	TCGA-YL-A8SH-01B-11D-A377-08	44830583	118352048	17182699	24	31239											
LRP4	4038	broad.mit.edu	37	chr11	46924428	46924428	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctccaagagcactcacTgcacatgtgaagtggctccg	10	8	9	14	1	2	2	1	1	1	1	4	2	3	2	2	1	2	3	2	1	2	0			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr11:46924428T>G	ENST00000378623.1	-	2	347	c.105A>C	c.(103-105)gcA>gcC	p.A35A		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	35	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			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)		GAGCACTCACTGCACATGTGA	0.587																																						ENST00000378623.1																			0				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						c.(103-105)gcA>gcC		low density lipoprotein receptor-related protein 4							81	71	74					11																	46924428		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46924428T>G	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.105A>C	11.37:g.46924428T>G							p.A35A	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	2	347	-			35			LDL-receptor class A 1.		B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.105A>C	CCDS31478.1																																																																																				0.587	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		11	22	0	0	0	1	0	11	22					G	46924428	T	G	46924428	2	3	459	1	0	0	0	0	0	0	0	1	8959	1567	55	5		5	LRP4	11	46924428	Silent	SNP	T	TCGA-YL-A8SH-01B-11D-A377-08		46924428	88082088	25	31240											
OR5L2	26338	broad.mit.edu	37	chr11	55594965	55594965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatctttaacaaggacaaaGccatctccttcctagggtgc	12	11	7	11	0	2	0	0	0	2	0	4	1	3	1	3	2	3	0	3	2	5	5			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr11:55594965G>A	ENST00000378397.1	+	1	271	c.271G>A	c.(271-273)Gcc>Acc	p.A91T		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A91T(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CAAGGACAAAGCCATCTCCTT	0.463										HNSCC(27;0.073)																												ENST00000378397.1																			1	Substitution - Missense(1)	p.A91T(1)	lung(1)	breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(271-273)Gcc>Acc		olfactory receptor, family 5, subfamily L, member 2							202	190	194					11																	55594965		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594965G>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.271G>A	11.37:g.55594965G>A	ENSP00000367650:p.Ala91Thr	HNSCC(27;0.073)					p.A91T	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	271	+		all_epithelial(135;0.208)	91					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.271G>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	0.150	-1.092451	0.01858	.	.	ENSG00000205030	ENST00000378397	T	0.01113	5.32	5.21	-4.85	0.03142	GPCR, rhodopsin-like superfamily (1);	1.280730	0.05354	N	0.532408	T	0.00384	0.0012	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.46541	-0.9184	10	0.02654	T	1	-1.6022	5.4008	0.16295	0.473:0.0:0.2951:0.2319	.	91	Q8NGL0	OR5L2_HUMAN	T	91	ENSP00000367650:A91T	ENSP00000367650:A91T	A	+	1	0	OR5L2	55351541	0.000000	0.05858	0.048000	0.18961	0.609000	0.37215	-2.846000	0.00735	-0.880000	0.03997	-0.333000	0.08304	GCC		0.463	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		5	132	0	0	0	1	0	5	132					A	55594965	G	A	55594965	3	1	459	1	0	0	0	0	1	0	0	0	11171	971	34	3	273	3	OR5L2	11	55594965	Missense_Mutation	SNP	G	TCGA-YL-A8SH-01B-11D-A377-08	8670537	55594965	79411551	26	31241											
ATM	472	broad.mit.edu	37	chr11	108180935	108180935	+	Frame_Shift_Del	DEL	T	T	-																															gctttctggctggatttaaaTtatctagaagttgccaaggt																										TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr11:108180935delT	ENST00000452508.2	+	40	6000	c.5811delT	c.(5809-5811)aatfs	p.N1937fs	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Frame_Shift_Del_p.N1937fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1937					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			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)	Caffeine(DB00201)	TGGATTTAAATTATCTAGAAG	0.328			"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)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				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						c.(5809-5811)aafs	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							71	75	74					11																	108180935		2201	4297	6498	SO:0001589	frameshift_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	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	g.chr11:108180935delT	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5811delT	11.37:g.108180935delT	ENSP00000388058:p.Asn1937fs	TSP Lung(14;0.12)				C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Frame_Shift_Del_p.N1937fs	p.N1937fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		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)	39	6196	+		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)	1937					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.5811delT	CCDS31669.1																																																																																				0.328	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		12	34						12	34	---	---	---	---	-	108180935	T	-	108180935	7	5	459	1	0	1	0	1	0	0	0	0	1109	1490	52	0	5961	0	ATM	11	108180935	Frame_Shift_Del	DEL	T	TCGA-YL-A8SH-01B-11D-A377-08	52585970	108180935	26825581	27	31242											
TBX3	6926	broad.mit.edu	37	chr12	115118775	115118775	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccccagtagcggggctgTccgggtgaatgtacatcctc	6	10	13	12	2	0	1	0	1	0	0	4	1	3	1	4	3	2	4	4	3	3	3			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr12:115118775T>A	ENST00000257566.3	-	2	955	c.566A>T	c.(565-567)gAc>gTc	p.D189V	TBX3_ENST00000349155.2_Missense_Mutation_p.D189V	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	189					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AGCGGGGCTGTCCGGGTGAAT	0.468																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(565-567)gAc>gTc		T-box 3							112	106	108					12																	115118775		2203	4300	6503	SO:0001583	missense	6926				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	g.chr12:115118775T>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.566A>T	12.37:g.115118775T>A	ENSP00000257566:p.Asp189Val					TBX3_ENST00000257566.3_Missense_Mutation_p.D189V	p.D189V	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	2	1529	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		189					Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.566A>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	T	30	5.052814	0.93793	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.91464	-2.85;-2.85	5.81	5.81	0.92471	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97445	0.9164	H	0.98866	4.355	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.998	D;D;D	0.97110	0.994;1.0;0.997	D	0.99016	1.0816	10	0.87932	D	0	.	15.352	0.74396	0.0:0.0:0.0:1.0	.	189;189;189	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	V	189	ENSP00000257567:D189V;ENSP00000257566:D189V	ENSP00000257566:D189V	D	-	2	0	TBX3	113603158	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	7.698000	0.84413	2.225000	0.72522	0.533000	0.62120	GAC		0.468	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		5	58	0	0	0	1	0	5	58					A	115118775	T	A	115118775	3	1	459	1	0	0	0	0	1	0	0	0	15656	1667	58	5	1693	5	TBX3	12	115118775	Missense_Mutation	SNP	T	TCGA-YL-A8SH-01B-11D-A377-08		115118775	18733120	28	31243											
PRHOXNB	646625	broad.mit.edu	37	chr13	28562733	28562733	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcattcccaaacacatccacGaattctccaaggtccatgga	13	8	6	14	1	1	0	0	0	1	0	5	2	4	1	4	2	1	1	4	2	3	2	rs267603794		TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr13:28562733G>A	ENST00000332715.5	-	1	58	c.42C>T	c.(40-42)ttC>ttT	p.F14F	RN7SL272P_ENST00000487762.2_RNA	NM_001105577.1	NP_001099047.1	A6NGE7	URAD_HUMAN	ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase	14					allantoin biosynthetic process (GO:0019428)|purine nucleobase metabolic process (GO:0006144)|urate catabolic process (GO:0019628)	peroxisome (GO:0005777)	carboxy-lyase activity (GO:0016831)										ACACATCCACGAATTCTCCAA	0.512																																						ENST00000332715.4																			0											c.(40-42)ttC>ttT		ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase							103	109	107					13																	28562733		2101	4222	6323	SO:0001819	synonymous_variant	646625							g.chr13:28562733G>A		CCDS45020.1	13q12.2	2014-04-09	2013-06-18	2013-06-18	ENSG00000183463	ENSG00000183463	4.1.1.n1		17785	protein-coding gene	gene with protein product	"OHCU decarboxylase"	615804	"parahox cluster neighbor"	PRHOXNB		16462750	Standard	NM_001105577		Approved		uc010aan.1	A6NGE7	OTTHUMG00000186217	ENST00000332715.5:c.42C>T	13.37:g.28562733G>A							p.F14F	NM_001105577.1	NP_001099047.1					1	41	-									Silent	SNP	ENST00000332715.5	37	c.42C>T	CCDS45020.1																																																																																				0.512	URAD-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472432.1			11	38	0	0	0	1	0	11	38					A	28562733	G	A	28562733	2	1	459	1	0	0	0	0	0	0	0	1	12484	1049	37	2		2	PRHOXNB	13	28562733	Silent	SNP	G	TCGA-YL-A8SH-01B-11D-A377-08		28562733	86607145	29	31244											
THTPA	79178	broad.mit.edu	37	chr14	24026130	24026130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggctgaccactggctgcGacgacgagaggatagtggat	10	6	16	9	3	0	2	0	1	0	1	0	7	0	4	1	4	1	3	1	4	1	1			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr14:24026130G>A	ENST00000288014.6	+	1	900	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000554970.1_Missense_Mutation_p.R55Q|RP11-66N24.4_ENST00000556354.1_RNA|THTPA_ENST00000554789.1_Missense_Mutation_p.R55Q|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000556015.1_Missense_Mutation_p.R55Q|THTPA_ENST00000404535.3_Missense_Mutation_p.R55Q			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	55	CYTH. {ECO:0000255|PROSITE- ProRule:PRU01044}.				dephosphorylation (GO:0016311)|generation of precursor metabolites and energy (GO:0006091)|small molecule metabolic process (GO:0044281)|thiamine diphosphate metabolic process (GO:0042357)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)|thiamin-triphosphatase activity (GO:0050333)			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)		CACTGGCTGCGACGACGAGAG	0.577																																						ENST00000288014.6																			0				large_intestine(1)|prostate(2)	3						c.(163-165)cGa>cAa		thiamine triphosphatase	Thiamine(DB00152)						66	53	57					14																	24026130		2203	4300	6503	SO:0001583	missense	0				dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity	g.chr14:24026130G>A	AF432862	CCDS32053.1, CCDS58306.1, CCDS58307.1	14q11.2	2011-04-28					3.6.1.28		18987	protein-coding gene	gene with protein product		611612				11827967	Standard	NR_046051		Approved	THTPASE	uc001wkh.5	Q9BU02		ENST00000288014.6:c.164G>A	14.37:g.24026130G>A	ENSP00000288014:p.Arg55Gln					THTPA_ENST00000556015.1_Missense_Mutation_p.R55Q|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000554970.1_Missense_Mutation_p.R55Q|THTPA_ENST00000554789.1_Missense_Mutation_p.R55Q|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.R55Q	p.R55Q			Q9BU02	THTPA_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	900	+	all_cancers(95;0.000251)		55					D3DS50|G3V4J3	Missense_Mutation	SNP	ENST00000288014.6	37	c.164G>A	CCDS32053.1	.	.	.	.	.	.	.	.	.	.	G	35	5.510741	0.96386	.	.	ENSG00000157306	ENST00000404535;ENST00000288014;ENST00000557630;ENST00000556015;ENST00000554970;ENST00000554789	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.91	5.91	0.95273	CYTH domain (2);CYTH-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90807	0.7113	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92164	0.5738	10	0.87932	D	0	-7.5265	17.7923	0.88558	0.0:0.0:1.0:0.0	.	55;55	G3V4J3;Q9BU02	.;THTPA_HUMAN	Q	55	ENSP00000384580:R55Q;ENSP00000288014:R55Q;ENSP00000452281:R55Q;ENSP00000451835:R55Q;ENSP00000452465:R55Q;ENSP00000450459:R55Q	ENSP00000288014:R55Q	R	+	2	0	THTPA	23095970	1.000000	0.71417	0.991000	0.47740	0.936000	0.57629	6.831000	0.75324	2.793000	0.96121	0.655000	0.94253	CGA		0.577	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413800.2			4	10	0	0	0	1	0	4	10					A	24026130	G	A	24026130	3	1	459	1	0	0	0	0	1	0	0	0	15878	1058	37	2	166	2	THTPA	14	24026130	Missense_Mutation	SNP	G	TCGA-YL-A8SH-01B-11D-A377-08		24026130	83323410	30	31245											
DDX24	57062	broad.mit.edu	37	chr14	94526642	94526642	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagaagtctttctcatcaGtctcacaatggatcttggtc	10	14	8	9	0	5	1	3	0	4	1	8	2	5	2	0	2	0	1	0	2	3	3			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr14:94526642G>C	ENST00000330836.5	-	5	1846	c.1715C>G	c.(1714-1716)aCt>aGt	p.T572S	DDX24_ENST00000555054.1_Missense_Mutation_p.T529S|DDX24_ENST00000544005.1_Missense_Mutation_p.T322S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	572					RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTTCTCATCAGTCTCACAATG	0.498																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(1714-1716)aCt>aGt		DEAD (Asp-Glu-Ala-Asp) box helicase 24							206	180	189					14																	94526642		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94526642G>C	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"DEAD-boxes"	13266	protein-coding gene	gene with protein product		606181	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1715C>G	14.37:g.94526642G>C	ENSP00000328690:p.Thr572Ser					DDX24_ENST00000544005.1_Missense_Mutation_p.T322S|DDX24_ENST00000555054.1_Missense_Mutation_p.T529S	p.T572S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	5	1846	-		all_cancers(154;0.12)	572					E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.1715C>G	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937283	0.34189	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.04654	3.58;3.58;3.58	5.74	3.8	0.43715	.	0.341205	0.36854	N	0.002361	T	0.04724	0.0128	L	0.31065	0.9	0.25906	N	0.983298	B	0.18310	0.027	B	0.17433	0.018	T	0.34675	-0.9819	10	0.18276	T	0.48	-2.7502	15.5826	0.76455	0.0:0.0:0.7508:0.2492	.	572	Q9GZR7	DDX24_HUMAN	S	572;322;517;198;529;529	ENSP00000328690:T572S;ENSP00000440623:T322S;ENSP00000452145:T529S	ENSP00000328690:T572S	T	-	2	0	DDX24	93596395	0.999000	0.42202	0.982000	0.44146	0.998000	0.95712	2.864000	0.48404	1.536000	0.49237	0.563000	0.77884	ACT		0.498	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		28	46	0	0	0	1	0	28	46					C	94526642	G	C	94526642	3	2	459	1	0	0	0	0	1	0	0	0	4351	1029	36	5	884	5	DDX24	14	94526642	Missense_Mutation	SNP	G	TCGA-YL-A8SH-01B-11D-A377-08	70500512	94526642	12822898	31	31246											
AHNAK2	113146	broad.mit.edu	37	chr14	105414154	105414154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagtttcacgtccacttggCcagcctggacctccaggtca	7	9	11	14	1	2	0	2	0	0	0	4	2	4	2	5	4	1	1	5	4	0	2	rs374320063		TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr14:105414154C>T	ENST00000333244.5	-	7	7753	c.7634G>A	c.(7633-7635)gGc>gAc	p.G2545D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2545						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				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)			GTCCACTTGGCCAGCCTGGAC	0.642																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(7633-7635)gGc>gAc		AHNAK nucleoprotein 2							106	118	114					14																	105414154		1897	4111	6008	SO:0001583	missense	113146					nucleus		g.chr14:105414154C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7634G>A	14.37:g.105414154C>T	ENSP00000353114:p.Gly2545Asp					AHNAK2_ENST00000557457.1_Intron	p.G2545D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7753	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2545					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.7634G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	11.37	1.618337	0.28801	.	.	ENSG00000185567	ENST00000333244	T	0.00730	5.77	3.7	-7.39	0.01402	.	.	.	.	.	T	0.01156	0.0038	M	0.68952	2.095	0.09310	N	1	P	0.50528	0.936	P	0.47603	0.551	T	0.00212	-1.1914	9	0.44086	T	0.13	.	4.1089	0.10050	0.301:0.4751:0.1225:0.1013	.	2545	Q8IVF2	AHNK2_HUMAN	D	2545	ENSP00000353114:G2545D	ENSP00000353114:G2545D	G	-	2	0	AHNAK2	104485199	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-2.143000	0.01297	-2.347000	0.00620	-1.231000	0.01572	GGC		0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		4	157	0	0	0	1	0	4	157					T	105414154	C	T	105414154	3	4	459	1	0	0	0	0	1	0	0	0	415	739	26	3	9757	3	AHNAK2	14	105414154	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08	10887512	105414154	1935386	32	31247											
TCF12	6938	broad.mit.edu	37	chr15	57484403	57484403	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgggagcccagcacagctAtcttcttcaggaaaacctgg	10	9	10	12	0	3	0	1	0	2	0	3	2	3	2	2	3	4	2	2	3	3	4			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr15:57484403A>G	ENST00000267811.5	+	7	742	c.438A>G	c.(436-438)ctA>ctG	p.L146L	TCF12_ENST00000452095.2_Silent_p.L142L|TCF12_ENST00000557843.1_Silent_p.L146L|TCF12_ENST00000438423.2_Silent_p.L146L|TCF12_ENST00000333725.5_Silent_p.L146L	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	146					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		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)		CAGCACAGCTATCTTCTTCAG	0.468			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				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						c.(436-438)ctA>ctG		transcription factor 12							92	94	94					15																	57484403		2192	4292	6484	SO:0001819	synonymous_variant	6938				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	g.chr15:57484403A>G	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.438A>G	15.37:g.57484403A>G						TCF12_ENST00000557843.1_Silent_p.L146L|TCF12_ENST00000452095.2_Silent_p.L142L|TCF12_ENST00000438423.2_Silent_p.L146L|TCF12_ENST00000333725.5_Silent_p.L146L	p.L146L	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	7	742	+		Colorectal(260;0.0907)	146					Q7Z3D9|Q86TC1|Q86VM2	Silent	SNP	ENST00000267811.5	37	c.438A>G	CCDS10159.1																																																																																				0.468	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		16	42	0	0	0	1	0	16	42					G	57484403	A	G	57484403	2	3	459	1	0	0	0	0	0	0	0	1	15684	436	16	4		4	TCF12	15	57484403	Silent	SNP	A	TCGA-YL-A8SH-01B-11D-A377-08		57484403	45046989	33	31248											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164527	85164527	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctacgaatgtaaagaatgCggcgaaagctttagttacaa	15	9	9	8	3	0	1	0	0	0	1	0	3	0	1	1	1	4	3	1	1	9	5	rs199585522	byFrequency	TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr15:85164527C>T	ENST00000448803.2	+	3	1393	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C	ZSCAN2_ENST00000327179.6_Silent_p.C366C|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000546148.1_Silent_p.C367C|ZSCAN2_ENST00000358472.3_Silent_p.C217C|ZSCAN2_ENST00000485222.2_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	367					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C367C(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GTAAAGAATGCGGCGAAAGCT	0.502													C|||	13	0.00259585	0	0	5008	,	,		18127	0.0099		0	False		,,,				2504	0.0031					ENST00000448803.2																			1	Substitution - coding silent(1)	p.C367C(1)	kidney(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19						c.(1099-1101)tgC>tgT		zinc finger and SCAN domain containing 2		C		2,4404	4.2+/-10.8	0,2,2201	133	138	136		1101	-3.2	0.8	15		136	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous	ZSCAN2	NM_181877.3		0,5,6497	TT,TC,CC		0.0349,0.0454,0.0384		367/615	85164527	5,12999	2203	4299	6502	SO:0001819	synonymous_variant	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85164527C>T	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"-", "Zinc fingers, C2H2-type"	20994	protein-coding gene	gene with protein product			"zinc finger protein 29"	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1101C>T	15.37:g.85164527C>T						ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000358472.3_Silent_p.C217C|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000327179.6_Silent_p.C366C|ZSCAN2_ENST00000546148.1_Silent_p.C367C|ZSCAN2_ENST00000541040.1_Intron	p.C367C	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	1393	+			367					A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	ENST00000448803.2	37	c.1101C>T	CCDS10329.2																																																																																				0.502	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		4	112	0	0	0	1	0	4	112					T	85164527	C	T	85164527	2	4	459	1	0	0	0	0	0	0	0	1	18228	776	27	1		1	ZSCAN2	15	85164527	Silent	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08	27680124	85164527	17366865	34	31249											
SPOP	8405	broad.mit.edu	37	chr17	47696644	47696644	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcaggatggagaatttgaAttttgcccgaacttcactct	11	14	8	8	1	3	2	2	1	1	1	3	5	3	3	1	2	2	0	1	2	3	5			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr17:47696644A>C	ENST00000393328.2	-	5	669	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V|SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000393331.3_Missense_Mutation_p.F102V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAGAATTTGAATTTTGCCCGA	0.408										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(304-306)Ttc>Gtc		speckle-type POZ protein							147	136	140					17																	47696644		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696644A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.304T>G	17.37:g.47696644A>C	ENSP00000377001:p.Phe102Val	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.F102V|SPOP_ENST00000393328.2_Missense_Mutation_p.F102V|SPOP_ENST00000504102.1_Missense_Mutation_p.F102V|SPOP_ENST00000503676.1_Missense_Mutation_p.F102V	p.F102V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	774	-			102			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.304T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.465429	0.84425	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	L	0.48986	1.54	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.75869	-0.3165	10	0.39692	T	0.17	-11.8278	15.4649	0.75390	1.0:0.0:0.0:0.0	.	102	O43791	SPOP_HUMAN	V	102;102;102;102;102;55;102;102;102;102;102	ENSP00000377001:F102V;ENSP00000377004:F102V;ENSP00000240327:F102V;ENSP00000425905:F102V;ENSP00000420908:F102V;ENSP00000426986:F102V;ENSP00000420960:F102V;ENSP00000426262:F102V;ENSP00000424119:F102V;ENSP00000426537:F102V	ENSP00000240327:F102V	F	-	1	0	SPOP	45051643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TTC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		23	62	0	0	0	1	0	23	62					C	47696644	A	C	47696644	3	2	459	1	0	0	0	0	1	0	0	0	15083	101	4	5	848	5	SPOP	17	47696644	Missense_Mutation	SNP	A	TCGA-YL-A8SH-01B-11D-A377-08		47696644	33498566	35	31250											
FBN3	84467	broad.mit.edu	37	chr19	8190851	8190851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagacccagcagtgttgaCgcaacgcccgttgggacaga	12	5	13	11	3	0	3	0	1	0	2	0	5	0	4	2	1	2	4	2	1	2	2			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr19:8190851C>T	ENST00000600128.1	-	22	3070	c.2656G>A	c.(2656-2658)Gtc>Atc	p.V886I	FBN3_ENST00000270509.2_Missense_Mutation_p.V886I|FBN3_ENST00000601739.1_Missense_Mutation_p.V886I			Q75N90	FBN3_HUMAN	fibrillin 3	886	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			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						GCAGTGTTGACGCAACGCCCG	0.637																																						ENST00000600128.1																			0				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						c.(2656-2658)Gtc>Atc		fibrillin 3							68	58	61					19																	8190851		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8190851C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2656G>A	19.37:g.8190851C>T	ENSP00000470498:p.Val886Ile					FBN3_ENST00000270509.2_Missense_Mutation_p.V886I|FBN3_ENST00000601739.1_Missense_Mutation_p.V886I	p.V886I			Q75N90	FBN3_HUMAN			22	3070	-			886			EGF-like 11; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.2656G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	5.198	0.221976	0.09863	.	.	ENSG00000142449	ENST00000270509	D	0.90324	-2.65	4.0	-3.64	0.04515	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.309128	0.28694	N	0.014452	T	0.77123	0.4084	N	0.12961	0.28	0.29881	N	0.826019	B	0.09022	0.002	B	0.04013	0.001	T	0.61247	-0.7101	10	0.30078	T	0.28	.	8.8603	0.35253	0.0:0.4287:0.1847:0.3866	.	886	Q75N90	FBN3_HUMAN	I	886	ENSP00000270509:V886I	ENSP00000270509:V886I	V	-	1	0	FBN3	8096851	0.433000	0.25562	0.079000	0.20413	0.001000	0.01503	-0.127000	0.10547	-1.022000	0.03346	-2.349000	0.00243	GTC		0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		7	28	0	0	0	1	0	7	28					T	8190851	C	T	8190851	3	4	459	1	0	0	0	0	1	0	0	0	5704	536	19	1	5945	1	FBN3	19	8190851	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08		8190851	50938132	36	31251											
BCAM	4059	broad.mit.edu	37	chr19	45316773	45316773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccctctacctgcggctccGcaaggatgaccgagacgcca	9	5	10	17	4	1	2	0	1	1	1	2	4	2	3	5	2	2	2	5	2	2	1			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr19:45316773G>A	ENST00000270233.6	+	6	702	c.680G>A	c.(679-681)cGc>cAc	p.R227H	BCAM_ENST00000589651.1_Missense_Mutation_p.R227H	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	227	Ig-like V-type 2.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CTGCGGCTCCGCAAGGATGAC	0.706																																						ENST00000391955.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(679-681)cGc>cAc		basal cell adhesion molecule (Lutheran blood group)							41	45	43					19																	45316773		2200	4295	6495	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45316773G>A	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.680G>A	19.37:g.45316773G>A	ENSP00000270233:p.Arg227His					BCAM_ENST00000270233.6_Missense_Mutation_p.R227H	p.R227H			P50895	BCAM_HUMAN			6	724	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	227			Ig-like V-type 2.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.680G>A	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	7.126	0.578928	0.13686	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.76060	-0.99;-0.99	4.15	-8.31	0.01001	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46718	0.1407	N	0.05441	-0.05	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.34750	-0.9816	9	0.22706	T	0.39	-5.8484	9.5003	0.39013	0.7786:0.0935:0.1279:0.0	.	227	P50895	BCAM_HUMAN	H	227	ENSP00000270233:R227H;ENSP00000375817:R227H	ENSP00000270233:R227H	R	+	2	0	BCAM	50008613	0.000000	0.05858	0.022000	0.16811	0.207000	0.24258	-2.249000	0.01188	-1.804000	0.01241	-1.244000	0.01528	CGC		0.706	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		3	43	0	0	0	1	0	3	43					A	45316773	G	A	45316773	3	1	459	1	0	0	0	0	1	0	0	0	1344	1087	38	1	702	1	BCAM	19	45316773	Missense_Mutation	SNP	G	TCGA-YL-A8SH-01B-11D-A377-08	37125922	45316773	13812210	37	31252											
GYS1	2997	broad.mit.edu	37	chr19	49490530	49490530	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtaccacggcactccgatgTtgcaggtatcccagagctct	8	9	10	14	3	1	1	0	0	1	1	3	2	3	1	3	2	3	6	3	2	2	3			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr19:49490530T>C	ENST00000323798.3	-	3	609	c.413A>G	c.(412-414)aAc>aGc	p.N138S	GYS1_ENST00000263276.6_Intron|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000541188.1_Missense_Mutation_p.N58S|GYS1_ENST00000540532.1_Missense_Mutation_p.N58S	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	138					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CACTCCGATGTTGCAGGTATC	0.637																																						ENST00000323798.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(412-414)aAc>aGc		glycogen synthase 1 (muscle)							79	57	64					19																	49490530		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49490530T>C		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.413A>G	19.37:g.49490530T>C	ENSP00000317904:p.Asn138Ser					GYS1_ENST00000541188.1_Missense_Mutation_p.N58S|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000263276.6_Intron|GYS1_ENST00000540532.1_Missense_Mutation_p.N58S|GYS1_ENST00000457974.1_5'UTR	p.N138S	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	3	609	-		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)	138					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.413A>G	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	T	9.550	1.115782	0.20795	.	.	ENSG00000104812	ENST00000323798;ENST00000541188;ENST00000540532;ENST00000457974	T;T;T	0.62364	0.03;0.03;0.03	3.82	1.72	0.24424	.	0.375071	0.31082	N	0.008299	T	0.35128	0.0921	N	0.11427	0.14	0.35386	D	0.790301	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.17684	-1.0361	10	0.22109	T	0.4	-20.8488	6.2651	0.20922	0.0:0.2247:0.0:0.7753	.	58;138	B7Z806;P13807	.;GYS1_HUMAN	S	138;58;58;137	ENSP00000317904:N138S;ENSP00000437922:N58S;ENSP00000445197:N58S	ENSP00000317904:N138S	N	-	2	0	GYS1	54182342	0.947000	0.32204	1.000000	0.80357	0.979000	0.70002	0.199000	0.17237	0.610000	0.30035	0.455000	0.32223	AAC		0.637	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		3	5	0	0	0	1	0	3	5					C	49490530	T	C	49490530	3	2	459	1	0	0	0	0	1	0	0	0	6912	1725	60	4	1856	4	GYS1	19	49490530	Missense_Mutation	SNP	T	TCGA-YL-A8SH-01B-11D-A377-08	4173757	49490530	9638453	38	31253											
NCOA3	8202	broad.mit.edu	37	chr20	46267838	46267838	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccctgtttctgttggctcaAgtcctccagtaaaaaatatc	10	13	7	11	0	2	0	1	0	1	0	5	0	4	0	3	1	0	4	3	1	5	4			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr20:46267838A>G	ENST00000371998.3	+	14	2790	c.2599A>G	c.(2599-2601)Agt>Ggt	p.S867G	NCOA3_ENST00000371997.3_Missense_Mutation_p.S877G|NCOA3_ENST00000341724.6_Intron|NCOA3_ENST00000372004.3_Missense_Mutation_p.S867G			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	867					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			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						TGTTGGCTCAAGTCCTCCAGT	0.438																																						ENST00000372004.3																			0				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						c.(2599-2601)Agt>Ggt		nuclear receptor coactivator 3							132	125	127					20																	46267838		2203	4300	6503	SO:0001583	missense	8202				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	g.chr20:46267838A>G	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.2599A>G	20.37:g.46267838A>G	ENSP00000361066:p.Ser867Gly					NCOA3_ENST00000371997.3_Missense_Mutation_p.S877G|NCOA3_ENST00000371998.3_Missense_Mutation_p.S867G|NCOA3_ENST00000341724.6_Intron	p.S867G	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			14	2815	+			867					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.2599A>G	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	A	0.478	-0.881188	0.02530	.	.	ENSG00000124151	ENST00000340189;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T	0.02032	4.69;4.66;4.49	5.48	1.94	0.25998	.	0.419679	0.26620	N	0.023379	T	0.01387	0.0045	N	0.14661	0.345	0.20074	N	0.999931	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.001;0.002;0.001;0.0;0.001;0.001	T	0.48969	-0.8987	10	0.25106	T	0.35	-2.4782	5.5729	0.17206	0.6259:0.1358:0.2383:0.0	.	867;877;871;867;867;867	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	G	867;867;867;877	ENSP00000361073:S867G;ENSP00000361066:S867G;ENSP00000361065:S877G	ENSP00000345671:S867G	S	+	1	0	NCOA3	45701245	0.301000	0.24444	0.046000	0.18839	0.101000	0.19017	0.839000	0.27586	0.059000	0.16252	-0.472000	0.04984	AGT		0.438	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		25	56	0	0	0	1	0	25	56					G	46267838	A	G	46267838	3	3	459	1	0	0	0	0	1	0	0	0	10230	72	3	4	2675	4	NCOA3	20	46267838	Missense_Mutation	SNP	A	TCGA-YL-A8SH-01B-11D-A377-08		46267838	16757682	39	31254											
THOC5	8563	broad.mit.edu	37	chr22	29904508	29904508	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcttcatcctgctaggacCcctagagaaataggagaacg	12	8	11	10	1	1	2	1	0	0	2	2	5	2	3	3	3	2	2	3	3	5	4			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr22:29904508C>A	ENST00000490103.1	-	20	2112	c.1990G>T	c.(1990-1992)Ggt>Tgt	p.G664C	THOC5_ENST00000397871.1_Splice_Site_p.G664C|THOC5_ENST00000397873.2_Splice_Site_p.G664C|THOC5_ENST00000397872.1_Splice_Site_p.G664C	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	664					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGCTAGGACCCCTAGAGAAA	0.458																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.e20-1		THO complex 5							86	78	81					22																	29904508		2203	4300	6503	SO:0001630	splice_region_variant	8563				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	g.chr22:29904508C>A	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1989-1G>T	22.37:g.29904508C>A						THOC5_ENST00000397871.1_Splice_Site_p.G664_splice|THOC5_ENST00000397872.1_Splice_Site_p.G664_splice|THOC5_ENST00000397873.2_Splice_Site_p.G664_splice	p.G664_splice	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			20	2112	-			664					O60839|Q9UPZ5	Splice_Site	SNP	ENST00000490103.1	37	c.1988_splice	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054326	0.93793	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55016	-0.8206	10	0.87932	D	0	-33.6037	19.9372	0.97144	0.0:1.0:0.0:0.0	.	664	Q13769	THOC5_HUMAN	C	664	ENSP00000420306:G664C;ENSP00000380970:G664C;ENSP00000380969:G664C;ENSP00000380971:G664C	ENSP00000380969:G664C	G	-	1	0	THOC5	28234508	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.317000	0.79018	2.810000	0.96702	0.655000	0.94253	GGT		0.458	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	Missense_Mutation	3	14	1	0	0.004672	1	0.00484189	3	14					A	29904508	C	A	29904508	5	1	459	1	0	0	0	0	0	0	1	0	15865	637	22	5	65	5	THOC5	22	29904508	Splice_Site	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08		29904508	21400058	40	31255											
MOV10L1	54456	broad.mit.edu	37	chr22	50582666	50582666	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaacgccacctgcaggttCgaggaggtgagcccttggtg	7	8	16	10	2	0	2	0	2	0	0	1	4	0	3	3	4	3	2	3	4	1	2	rs139092160		TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr22:50582666C>T	ENST00000262794.5	+	18	2582	c.2499C>T	c.(2497-2499)ttC>ttT	p.F833F	MOV10L1_ENST00000395858.3_Silent_p.F833F|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Silent_p.F833F|MOV10L1_ENST00000395852.1_5'Flank|MOV10L1_ENST00000540615.1_Silent_p.F813F	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	833					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.F833F(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CCTGCAGGTTCGAGGAGGTGA	0.642																																						ENST00000262794.5																			1	Substitution - coding silent(1)	p.F833F(1)	skin(1)	breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(2497-2499)ttC>ttT		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							59	53	55					22																	50582666		2203	4300	6503	SO:0001819	synonymous_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50582666C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2499C>T	22.37:g.50582666C>T						MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.F833F|MOV10L1_ENST00000540615.1_Silent_p.F813F|MOV10L1_ENST00000545383.1_Silent_p.F833F	p.F833F	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	18	2582	+		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)	833					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	c.2499C>T	CCDS14084.1																																																																																				0.642	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		14	24	0	0	0	1	0	14	24					T	50582666	C	T	50582666	2	4	459	1	0	0	0	0	0	0	0	1	9719	883	31	2		2	MOV10L1	22	50582666	Silent	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08	20678158	50582666	721900	41	31256											
L1CAM	3897	broad.mit.edu	37	chrX	153137798	153137798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtggacaccatccctcGtccagcggaacctgtgggcg	8	7	13	13	3	0	1	0	1	0	0	3	3	2	3	4	3	2	0	4	3	2	0			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chrX:153137798G>A	ENST00000370060.1	-	5	398	c.209C>T	c.(208-210)aCg>aTg	p.T70M	L1CAM_ENST00000370057.3_Missense_Mutation_p.T70M|L1CAM_ENST00000538883.1_Missense_Mutation_p.T72M|L1CAM_ENST00000361981.3_Missense_Mutation_p.T65M|L1CAM_ENST00000543994.1_Missense_Mutation_p.T72M|L1CAM_ENST00000370055.1_Missense_Mutation_p.T65M|L1CAM_ENST00000361699.4_Missense_Mutation_p.T70M	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	70	Ig-like C2-type 1.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCATCCCTCGTCCAGCGGAA	0.627																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(208-210)aCg>aTg		L1 cell adhesion molecule							70	60	64					X																	153137798		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153137798G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.209C>T	X.37:g.153137798G>A	ENSP00000359077:p.Thr70Met					L1CAM_ENST00000361981.3_Missense_Mutation_p.T65M|L1CAM_ENST00000361699.4_Missense_Mutation_p.T70M|L1CAM_ENST00000543994.1_Missense_Mutation_p.T72M|L1CAM_ENST00000538883.1_Missense_Mutation_p.T72M|L1CAM_ENST00000370055.1_Missense_Mutation_p.T65M|L1CAM_ENST00000370057.3_Missense_Mutation_p.T70M	p.T70M	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			5	398	-	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)		70			Ig-like C2-type 1.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.209C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797191	0.31777	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699;ENST00000439496;ENST00000407935;ENST00000420165;ENST00000458029	T;T;T;T;T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51	4.87	0.984	0.19773	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.562925	0.16722	N	0.202236	T	0.12944	0.0314	L	0.56396	1.775	0.26843	N	0.968337	P;B;P	0.43857	0.784;0.077;0.819	B;B;B	0.43536	0.298;0.033;0.423	T	0.13282	-1.0515	10	0.40728	T	0.16	.	2.1838	0.03881	0.1688:0.2758:0.4118:0.1436	.	65;70;70	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	M	70;72;70;72;65;65;70;70;65;65;70	ENSP00000359077:T70M;ENSP00000438430:T72M;ENSP00000359074:T70M;ENSP00000439645:T72M;ENSP00000354712:T65M;ENSP00000359072:T65M;ENSP00000355380:T70M;ENSP00000402407:T70M;ENSP00000384902:T65M;ENSP00000392524:T65M;ENSP00000396079:T70M	ENSP00000355380:T70M	T	-	2	0	L1CAM	152790992	1.000000	0.71417	0.064000	0.19789	0.804000	0.45430	3.204000	0.51082	-0.115000	0.11915	-0.344000	0.07964	ACG		0.627	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		6	11	0	0	0	1	0	6	11					A	153137798	G	A	153137798	3	1	459	1	0	0	0	0	1	0	0	0	8588	1145	40	1	3664	1	L1CAM	23	153137798	Missense_Mutation	SNP	G	TCGA-YL-A8SH-01B-11D-A377-08		153137798	2132762	42	31257											
KDM5D	8284	broad.mit.edu	37	chrY	21868432	21868432	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcaagcaggtccccttcCatcatgagctcctccagggg	8	8	9	16	0	2	1	2	1	0	0	6	1	6	1	6	3	2	2	6	3	1	1			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chrY:21868432C>A	ENST00000317961.4	-	26	4435	c.4164G>T	c.(4162-4164)atG>atT	p.M1388I	KDM5D_ENST00000541639.1_Missense_Mutation_p.M1419I|KDM5D_ENST00000382806.2_Missense_Mutation_p.M1331I	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	1388					histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|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 (GO:0016706)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	GGTCCCCTTCCATCATGAGCT	0.607																																						ENST00000541639.1																			0				kidney(1)|large_intestine(9)|lung(6)|skin(1)	17						c.(4255-4257)atG>atT		lysine (K)-specific demethylase 5D	Vitamin C(DB00126)						35	32	32					Y																	21868432		580	1904	2484	SO:0001583	missense	8284				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	g.chrY:21868432C>A	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11115	protein-coding gene	gene with protein product		426000	"Jumonji, AT rich interactive domain 1D (RBP2-like)", "Smcy homolog, Y-linked (mouse)", "jumonji, AT rich interactive domain 1D"	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.4164G>T	Y.37:g.21868432C>A	ENSP00000322408:p.Met1388Ile					KDM5D_ENST00000317961.4_Missense_Mutation_p.M1388I|KDM5D_ENST00000382806.2_Missense_Mutation_p.M1331I	p.M1419I	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN			27	4544	-			1388					A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Missense_Mutation	SNP	ENST00000317961.4	37	c.4257G>T	CCDS14794.1																																																																																				0.607	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653		3	7	1	0	0.004672	1	0.00484189	3	7					A	21868432	C	A	21868432	3	1	459	1	0	0	0	0	1	0	0	0	8136	594	21	5	463	5	KDM5D	24	21868432	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08		21868432	37505134	43	31258											
NBPF1	55672	broad.mit.edu	37	chr1	16895621	16895621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctctaatgagtgaaatgtgCcgctgtaagacttgtacgag	11	11	11	8	2	1	3	0	2	1	1	1	4	1	3	2	0	2	3	2	0	4	4			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr1:16895621C>T	ENST00000430580.2	-	23	3448	c.2561G>A	c.(2560-2562)gGc>gAc	p.G854D	NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	854	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									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)		GTGAAATGTGCCGCTGTAAGA	0.498																																						ENST00000430580.2																			0											c.(2560-2562)gGc>gAc		neuroblastoma breakpoint family, member 1							336	341	339					1																	16895621		2203	4300	6503	SO:0001583	missense	55672					cytoplasm		g.chr1:16895621C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2561G>A	1.37:g.16895621C>T	ENSP00000474456:p.Gly854Asp					NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR	p.G854D	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		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)	23	3448	-			854			NBPF 4.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2561G>A																																																																																					0.498	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		6	906	0	0	0	1	0	6	906					T	16895621	C	T	16895621	3	4	460	1	0	0	0	0	1	0	0	0	10192	739	26	3	891	3	NBPF1	1	16895621	Missense_Mutation	SNP	C	TCGA-YL-A8SI-01A-11D-A41K-08		16895621	232355000	1	31259											
CPT2	1376	broad.mit.edu	37	chr1	53676058	53676058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggatgaactcttcactgatGacaaggccagacacctcctg	11	8	10	12	0	2	4	1	3	1	1	3	5	3	5	3	2	1	0	3	2	2	1			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr1:53676058G>A	ENST00000371486.3	+	4	1227	c.712G>A	c.(712-714)Gac>Aac	p.D238N	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	238					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CTTCACTGATGACAAGGCCAG	0.473																																						ENST00000371486.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15						c.(712-714)Gac>Aac		carnitine palmitoyltransferase 2	L-Carnitine(DB00583)|Perhexiline(DB01074)						76	75	75					1																	53676058		2203	4300	6503	SO:0001583	missense	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53676058G>A	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"carnitine palmitoyltransferase II"	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.712G>A	1.37:g.53676058G>A	ENSP00000360541:p.Asp238Asn						p.D238N	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN			4	1227	+			238					B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	c.712G>A	CCDS575.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965292	0.34659	.	.	ENSG00000157184	ENST00000371486	D	0.89270	-2.49	5.5	3.6	0.41247	.	0.532996	0.22903	N	0.054237	T	0.81702	0.4878	L	0.38649	1.16	0.28665	N	0.905925	B	0.31705	0.336	B	0.29440	0.102	T	0.71922	-0.4446	10	0.34782	T	0.22	-0.9704	9.6775	0.40050	0.0737:0.0:0.7844:0.1419	.	238	P23786	CPT2_HUMAN	N	238	ENSP00000360541:D238N	ENSP00000360541:D238N	D	+	1	0	CPT2	53448646	1.000000	0.71417	0.002000	0.10522	0.885000	0.51271	5.291000	0.65667	0.654000	0.30846	-0.188000	0.12872	GAC		0.473	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		6	42	0	0	0	1	0	6	42					A	53676058	G	A	53676058	3	1	460	1	0	0	0	0	1	0	0	0	3834	1290	45	3	726	3	CPT2	1	53676058	Missense_Mutation	SNP	G	TCGA-YL-A8SI-01A-11D-A41K-08	36780437	53676058	195574563	2	31260											
C1orf173	127254	broad.mit.edu	37	chr1	75038795	75038795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctttactcagacccacagCatcttttgctgctgcttgtc	7	15	6	13	0	3	1	1	0	2	1	4	1	3	1	1	0	5	4	1	0	1	5			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr1:75038795C>T	ENST00000326665.5	-	14	2817	c.2599G>A	c.(2599-2601)Gct>Act	p.A867T	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		867	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						AGACCCACAGCATCTTTTGCT	0.537																																						ENST00000326665.5																			0				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						c.(2599-2601)Gct>Act		chromosome 1 open reading frame 173							177	175	176					1																	75038795		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038795C>T																												ENST00000326665.5:c.2599G>A	1.37:g.75038795C>T	ENSP00000322609:p.Ala867Thr					C1orf173_ENST00000433746.2_5'UTR	p.A867T	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2817	-			867			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2599G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024691	0.35701	.	.	ENSG00000178965	ENST00000326665	T	0.12879	2.64	5.5	-1.44	0.08856	.	.	.	.	.	T	0.02047	0.0064	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.46148	-0.9212	9	0.31617	T	0.26	-1.6327	3.058	0.06190	0.2851:0.4463:0.151:0.1176	.	867	Q5RHP9	CA173_HUMAN	T	867	ENSP00000322609:A867T	ENSP00000322609:A867T	A	-	1	0	C1orf173	74811383	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.525000	0.06214	0.034000	0.15491	-1.087000	0.02190	GCT		0.537	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			8	114	0	0	0	1	0	8	114					T	75038795	C	T	75038795	3	4	460	1	0	0	0	0	1	0	0	0	2014	710	25	3	1997	3	C1orf173	1	75038795	Missense_Mutation	SNP	C	TCGA-YL-A8SI-01A-11D-A41K-08	21362737	75038795	174211826	3	31261											
COL11A1	1301	broad.mit.edu	37	chr1	103405948	103405948	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggagaccaacaggaccttGaactccatctctccctgcag	10	8	9	14	0	1	2	0	1	1	1	4	4	3	3	4	2	3	1	4	2	2	1			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr1:103405948G>A	ENST00000370096.3	-	43	3631	c.3319C>T	c.(3319-3321)Caa>Taa	p.Q1107*	COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q1068*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q991*|COL11A1_ENST00000358392.2_Nonsense_Mutation_p.Q1119*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1107	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.Q1119E(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)		ACAGGACCTTGAACTCCATCT	0.493																																						ENST00000358392.2																			1	Substitution - Missense(1)	p.Q1119E(1)	upper_aerodigestive_tract(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						c.(3355-3357)Caa>Taa		collagen, type XI, alpha 1							61	66	64					1																	103405948		2203	4300	6503	SO:0001587	stop_gained	1301				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	g.chr1:103405948G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3319C>T	1.37:g.103405948G>A	ENSP00000359114:p.Gln1107*					COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q1068*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q991*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.Q1107*	p.Q1119*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	43	3672	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1107			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	c.3355C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	44	11.209114	0.99531	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	19.3174	0.94220	0.0:0.0:1.0:0.0	.	.	.	.	X	1107;1119;1068;327;991	.	ENSP00000302551:Q1068X	Q	-	1	0	COL11A1	103178536	1.000000	0.71417	0.828000	0.32881	0.970000	0.65996	9.835000	0.99442	2.569000	0.86673	0.650000	0.86243	CAA		0.493	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		7	25	0	0	0	1	0	7	25					A	103405948	G	A	103405948	4	1	460	1	0	0	0	0	0	1	0	0	3667	1299	45	3	2201	3	COL11A1	1	103405948	Nonsense_Mutation	SNP	G	TCGA-YL-A8SI-01A-11D-A41K-08	28367153	103405948	145844673	4	31262											
NOTCH2	4853	broad.mit.edu	37	chr1	120468195	120468195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggtgctggggggtgccGtgtagagttcacagcggcta	6	8	20	7	2	1	1	1	0	0	1	1	2	1	1	1	6	3	4	1	6	2	3			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr1:120468195G>A	ENST00000256646.2	-	25	4463	c.4244C>T	c.(4243-4245)aCg>aTg	p.T1415M	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1415					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGGGTGCCGTGTAGAGTTC	0.642			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(4243-4245)aCg>aTg		notch 2							48	51	50					1																	120468195		2202	4300	6502	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	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	g.chr1:120468195G>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4244C>T	1.37:g.120468195G>A	ENSP00000256646:p.Thr1415Met						p.T1415M	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	25	4463	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1415					Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.4244C>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	5.646	0.303825	0.10678	.	.	ENSG00000134250	ENST00000256646	T	0.43294	0.95	5.54	-1.18	0.09617	.	0.824190	0.09948	N	0.735059	T	0.12178	0.0296	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34030	-0.9845	10	0.30078	T	0.28	.	7.0636	0.25139	0.5102:0.1199:0.3698:0.0	.	1415	Q04721	NOTC2_HUMAN	M	1415	ENSP00000256646:T1415M	ENSP00000256646:T1415M	T	-	2	0	NOTCH2	120269718	0.000000	0.05858	0.000000	0.03702	0.352000	0.29268	-0.729000	0.04920	-0.243000	0.09653	-0.367000	0.07326	ACG		0.642	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		4	56	0	0	0	1	0	4	56					A	120468195	G	A	120468195	3	1	460	1	0	0	0	0	1	0	0	0	10548	1145	40	1	3211	1	NOTCH2	1	120468195	Missense_Mutation	SNP	G	TCGA-YL-A8SI-01A-11D-A41K-08	17062247	120468195	128782426	5	31263											
FLG2	388698	broad.mit.edu	37	chr1	152327338	152327338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgagcctgactcatgttgtCcaaagccagaggactgacct	10	9	10	12	0	1	4	1	3	0	1	2	5	2	5	4	1	2	1	4	1	1	1			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr1:152327338C>T	ENST00000388718.5	-	3	2996	c.2924G>A	c.(2923-2925)gGa>gAa	p.G975E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	975	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			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)			CTCATGTTGTCCAAAGCCAGA	0.493																																						ENST00000388718.5																			0				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						c.(2923-2925)gGa>gAa		filaggrin family member 2							259	261	260					1																	152327338		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327338C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2924G>A	1.37:g.152327338C>T	ENSP00000373370:p.Gly975Glu					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G975E	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2996	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		975			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2924G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	1.491	-0.554567	0.03996	.	.	ENSG00000143520	ENST00000388718	T	0.02974	4.09	4.63	2.66	0.31614	.	.	.	.	.	T	0.01092	0.0036	L	0.58428	1.81	0.09310	N	1	P	0.37015	0.578	B	0.32211	0.142	T	0.48670	-0.9015	9	0.33940	T	0.23	-0.2025	6.8355	0.23933	0.0:0.7742:0.0:0.2258	.	975	Q5D862	FILA2_HUMAN	E	975	ENSP00000373370:G975E	ENSP00000373370:G975E	G	-	2	0	FLG2	150593962	0.000000	0.05858	0.009000	0.14445	0.051000	0.14879	-0.742000	0.04850	0.498000	0.27948	0.655000	0.94253	GGA		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		9	245	0	0	0	1	0	9	245					T	152327338	C	T	152327338	3	4	460	1	0	0	0	0	1	0	0	0	5923	855	30	3	4255	3	FLG2	1	152327338	Missense_Mutation	SNP	C	TCGA-YL-A8SI-01A-11D-A41K-08	31859143	152327338	96923283	6	31264											
BMP10	27302	broad.mit.edu	37	chr2	69092860	69092860	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatggagatgggctctagcTttgtgggcacacagcaggct	8	9	16	8	0	1	1	0	0	1	1	1	3	1	2	0	5	2	5	0	5	1	2			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr2:69092860T>A	ENST00000295379.1	-	2	1336	c.1178A>T	c.(1177-1179)aAg>aTg	p.K393M		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	393					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						GGGCTCTAGCTTTGTGGGCAC	0.498																																						ENST00000295379.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						c.(1177-1179)aAg>aTg		bone morphogenetic protein 10							163	161	162					2																	69092860		2203	4300	6503	SO:0001583	missense	27302				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	g.chr2:69092860T>A	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"Bone morphogenetic proteins", "Endogenous ligands"	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.1178A>T	2.37:g.69092860T>A	ENSP00000295379:p.Lys393Met						p.K393M	NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN			2	1336	-			393					Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	c.1178A>T	CCDS1890.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319657	0.81469	.	.	ENSG00000163217	ENST00000295379	D	0.85339	-1.97	6.17	6.17	0.99709	Transforming growth factor-beta, C-terminal (3);	0.041544	0.85682	D	0.000000	D	0.94145	0.8122	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95225	0.8337	10	0.87932	D	0	.	16.0034	0.80327	0.0:0.0:0.0:1.0	.	393	O95393	BMP10_HUMAN	M	393	ENSP00000295379:K393M	ENSP00000295379:K393M	K	-	2	0	BMP10	68946364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	AAG		0.498	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		4	96	0	0	0	1	0	4	96					A	69092860	T	A	69092860	3	1	460	1	0	0	0	0	1	0	0	0	1457	1609	56	5	100	5	BMP10	2	69092860	Missense_Mutation	SNP	T	TCGA-YL-A8SI-01A-11D-A41K-08		69092860	174106513	7	31265											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105900818	105900818	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgaagttgtgcaaactgtAtaaatcccgcctgctgcaga	12	10	9	10	1	0	2	0	1	0	1	1	2	1	2	2	0	4	5	2	0	5	3			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr2:105900818A>G	ENST00000393359.2	-	5	1502	c.1076T>C	c.(1075-1077)aTa>aCa	p.I359T	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.I359T			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	359					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGCAAACTGTATAAATCCCGC	0.463																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1075-1077)aTa>aCa		transforming growth factor, beta receptor associated protein 1							123	117	119					2																	105900818		2203	4300	6503	SO:0001583	missense	9392				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	g.chr2:105900818A>G	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1076T>C	2.37:g.105900818A>G	ENSP00000377027:p.Ile359Thr					TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.I359T	p.I359T			Q8WUH2	TGFA1_HUMAN			5	1502	-			359					A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.1076T>C	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.830366	0.91036	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.42900	0.96;0.96	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.41282	0.1152	L	0.57536	1.79	0.80722	D	1	P	0.34615	0.459	B	0.34489	0.184	T	0.23119	-1.0197	10	0.22706	T	0.39	-20.5648	15.9765	0.80071	1.0:0.0:0.0:0.0	.	359	Q8WUH2	TGFA1_HUMAN	T	359	ENSP00000377027:I359T;ENSP00000258449:I359T	ENSP00000258449:I359T	I	-	2	0	TGFBRAP1	105267250	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	9.310000	0.96267	2.172000	0.68678	0.533000	0.62120	ATA		0.463	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		11	136	0	0	0	1	0	11	136					G	105900818	A	G	105900818	3	3	460	1	0	0	0	0	1	0	0	0	15821	449	16	4	1538	4	TGFBRAP1	2	105900818	Missense_Mutation	SNP	A	TCGA-YL-A8SI-01A-11D-A41K-08	36807958	105900818	137298555	8	31266											
PLA2R1	22925	broad.mit.edu	37	chr2	160833917	160833917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataagtgttgtctaaaaacGaagagacaacctgcagcaga	18	7	9	7	1	1	2	0	0	1	2	1	4	1	2	1	0	4	3	1	0	7	3			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr2:160833917G>A	ENST00000283243.7	-	15	2485	c.2279C>T	c.(2278-2280)tCg>tTg	p.S760L	PLA2R1_ENST00000392771.1_Missense_Mutation_p.S760L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	760	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTCTAAAAACGAAGAGACAAC	0.388																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(2278-2280)tCg>tTg		phospholipase A2 receptor 1, 180kDa							107	99	102					2																	160833917		2203	4300	6503	SO:0001583	missense	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160833917G>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2279C>T	2.37:g.160833917G>A	ENSP00000283243:p.Ser760Leu					PLA2R1_ENST00000392771.1_Missense_Mutation_p.S760L	p.S760L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			15	2485	-			760			C-type lectin 4.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.2279C>T	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282275	0.80692	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.17854	2.25;2.25	5.22	5.22	0.72569	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.078774	0.52532	D	0.000063	T	0.33585	0.0868	L	0.50333	1.59	0.58432	D	0.999997	P;D;D	0.89917	0.891;1.0;1.0	B;D;D	0.71414	0.364;0.97;0.973	T	0.03268	-1.1054	10	0.12430	T	0.62	.	17.5612	0.87908	0.0:0.0:1.0:0.0	.	760;760;760	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	L	760	ENSP00000283243:S760L;ENSP00000376524:S760L	ENSP00000283243:S760L	S	-	2	0	PLA2R1	160542163	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.057000	0.89457	2.434000	0.82447	0.655000	0.94253	TCG		0.388	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			5	77	0	0	0	1	0	5	77					A	160833917	G	A	160833917	3	1	460	1	0	0	0	0	1	0	0	0	12010	1059	37	2	2184	2	PLA2R1	2	160833917	Missense_Mutation	SNP	G	TCGA-YL-A8SI-01A-11D-A41K-08	54933099	160833917	82365456	9	31267											
SLC19A3	80704	broad.mit.edu	37	chr2	228564080	228564080	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagtaggccacctcggcggcGgtgaccatcccatagaagaa	11	6	12	12	3	0	3	0	1	0	2	2	3	1	3	4	4	0	1	4	4	5	3			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr2:228564080G>A	ENST00000258403.3	-	3	422	c.351C>T	c.(349-351)acC>acT	p.T117T	SLC19A3_ENST00000541617.1_Silent_p.T113T|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	117					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.T117T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CCTCGGCGGCGGTGACCATCC	0.562																																						ENST00000258403.3																			1	Substitution - coding silent(1)	p.T117T(1)	lung(1)	breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30						c.(349-351)acC>acT		solute carrier family 19 (thiamine transporter), member 3	L-Cysteine(DB00151)						93	93	93					2																	228564080		2203	4300	6503	SO:0001819	synonymous_variant	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228564080G>A	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"Solute carriers"	16266	protein-coding gene	gene with protein product	"thiamine transporter 2"	606152	"solute carrier family 19, member 3"			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.351C>T	2.37:g.228564080G>A						SLC19A3_ENST00000541617.1_Silent_p.T113T|SLC19A3_ENST00000409287.1_Intron	p.T117T	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	3	422	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	117						Silent	SNP	ENST00000258403.3	37	c.351C>T	CCDS2468.1																																																																																				0.562	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			12	46	0	0	0	1	0	12	46					A	228564080	G	A	228564080	2	1	460	1	0	0	0	0	0	0	0	1	14430	1103	39	2		2	SLC19A3	2	228564080	Silent	SNP	G	TCGA-YL-A8SI-01A-11D-A41K-08	67730163	228564080	14635293	10	31268											
ATP2B2	491	broad.mit.edu	37	chr3	10491116	10491116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccacagcctcagtgccccGcagctccatgagggagcgga	9	4	13	15	2	1	1	1	1	0	0	2	4	2	3	5	2	4	2	5	2	0	0			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr3:10491116G>A	ENST00000352432.4	-	1	181	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	ATP2B2_ENST00000360273.2_Missense_Mutation_p.R38W|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R38W|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R38W|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R38W			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	38					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCAGTGCCCCGCAGCTCCATG	0.552																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(112-114)Cgg>Tgg		ATPase, Ca++ transporting, plasma membrane 2							101	93	96					3																	10491116		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10491116G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.112C>T	3.37:g.10491116G>A	ENSP00000324172:p.Arg38Trp					ATP2B2_ENST00000383800.4_Missense_Mutation_p.R38W|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R38W|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R38W|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R38W	p.R38W			Q01814	AT2B2_HUMAN			4	687	-			38					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.112C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348260	0.82132	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000342354	D;D;D;D;D	0.93604	-3.24;-3.25;-3.25;-3.24;-3.24	4.77	3.87	0.44632	.	0.000000	0.64402	D	0.000001	D	0.96358	0.8812	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.981;0.983	D	0.96217	0.9157	10	0.87932	D	0	-25.5086	11.8529	0.52422	0.0:0.0:0.8236:0.1764	.	38;50;38	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	W	38;38;38;38;38;4;38	ENSP00000324172:R38W;ENSP00000373311:R38W;ENSP00000380267:R38W;ENSP00000353414:R38W;ENSP00000344677:R38W	ENSP00000342954:R38W	R	-	1	2	ATP2B2	10466116	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	2.754000	0.47532	0.954000	0.37851	0.462000	0.41574	CGG		0.552	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		5	42	0	0	0	1	0	5	42					A	10491116	G	A	10491116	3	1	460	1	0	0	0	0	1	0	0	0	1140	1086	38	1	3707	1	ATP2B2	3	10491116	Missense_Mutation	SNP	G	TCGA-YL-A8SI-01A-11D-A41K-08		10491116	187531314	11	31269											
MAN2B2	23324	broad.mit.edu	37	chr4	6600070	6600070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccccaggcacccatggCggccagctccggtgagcagg	7	3	14	17	2	0	1	0	1	0	0	1	1	1	1	6	5	3	3	6	5	0	0	rs138386873		TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr4:6600070C>T	ENST00000285599.3	+	9	1430	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	MAN2B2_ENST00000504248.1_Missense_Mutation_p.A414V	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	465					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GCACCCATGGCGGCCAGCTCC	0.652																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1393-1395)gCg>gTg		mannosidase, alpha, class 2B, member 2		C	VAL/ALA	0,4406		0,0,2203	38	37	37		1394	-3.1	0	4	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MAN2B2	NM_015274.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	465/1010	6600070	1,13005	2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6600070C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1394C>T	4.37:g.6600070C>T	ENSP00000285599:p.Ala465Val					MAN2B2_ENST00000504248.1_Missense_Mutation_p.A414V	p.A465V	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			9	1430	+			465					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.1394C>T	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.056|5.056	0.196024|0.196024	0.09599|0.09599	0.0|0.0	1.16E-4|1.16E-4	ENSG00000013288|ENSG00000013288	ENST00000285599;ENST00000504248|ENST00000505907	T;D|.	0.84223|.	-1.39;-1.82|.	3.64|3.64	-3.07|-3.07	0.05363|0.05363	Glycoside hydrolase-type carbohydrate-binding (1);|.	4.746870|.	0.00166|.	N|.	0.000012|.	T|T	0.17365|0.17365	0.0417|0.0417	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B|.	0.15719|.	0.014;0.006;0.01|.	B;B;B|.	0.11329|.	0.002;0.001;0.006|.	T|T	0.33085|0.33085	-0.9882|-0.9882	10|5	0.22706|.	T|.	0.39|.	-1.5481|-1.5481	10.4652|10.4652	0.44602|0.44602	0.0:0.1943:0.6988:0.1068|0.0:0.1943:0.6988:0.1068	.|.	414;465;465|.	E9PCD7;Q9Y2E5;Q9Y2E5-2|.	.;MA2B2_HUMAN;.|.	V|W	465;414|464	ENSP00000285599:A465V;ENSP00000423129:A414V|.	ENSP00000285599:A465V|.	A|R	+|+	2|1	0|2	MAN2B2|MAN2B2	6650971|6650971	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.665000|-0.665000	0.05286|0.05286	-0.402000|-0.402000	0.07633|0.07633	-0.175000|-0.175000	0.13238|0.13238	GCG|CGG		0.652	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		6	18	0	0	0	1	0	6	18					T	6600070	C	T	6600070	3	4	460	1	0	0	0	0	1	0	0	0	9217	768	27	1	1428	1	MAN2B2	4	6600070	Missense_Mutation	SNP	C	TCGA-YL-A8SI-01A-11D-A41K-08		6600070	184554206	12	31270											
COMMD8	54951	broad.mit.edu	37	chr4	47455150	47455150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaatagaataaggttttaCttcaccattttcttttacat	12	19	3	7	0	3	1	2	0	1	1	3	1	3	1	1	1	2	1	1	1	6	10			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr4:47455150C>T	ENST00000381571.4	-	4	524	c.457G>A	c.(457-459)Gta>Ata	p.V153I		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	153	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.									large_intestine(2)|lung(5)|prostate(1)	8						TAAGGTTTTACTTCACCATTT	0.353																																						ENST00000381571.4																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(457-459)Gta>Ata		COMM domain containing 8							104	102	103					4																	47455150		2203	4300	6503	SO:0001583	missense	54951						protein binding	g.chr4:47455150C>T	AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019			26036	protein-coding gene	gene with protein product						15799966	Standard	NM_017845		Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.457G>A	4.37:g.47455150C>T	ENSP00000370984:p.Val153Ile						p.V153I	NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN			4	524	-			153			COMM.		Q8WUR4|Q9HC15	Missense_Mutation	SNP	ENST00000381571.4	37	c.457G>A	CCDS3475.1	.	.	.	.	.	.	.	.	.	.	C	7.914	0.737213	0.15574	.	.	ENSG00000169019	ENST00000381571	T	0.09538	2.97	6.16	3.08	0.35506	COMM domain (1);	0.501171	0.22649	N	0.057349	T	0.07098	0.0180	N	0.25485	0.75	0.09310	N	1	B	0.16166	0.016	B	0.19391	0.025	T	0.37731	-0.9693	10	0.20046	T	0.44	-24.7058	7.8664	0.29539	0.0:0.6656:0.136:0.1983	.	153	Q9NX08	COMD8_HUMAN	I	153	ENSP00000370984:V153I	ENSP00000370984:V153I	V	-	1	0	COMMD8	47149907	1.000000	0.71417	0.985000	0.45067	0.924000	0.55760	1.066000	0.30604	0.910000	0.36722	0.650000	0.86243	GTA		0.353	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	NM_017845		7	59	0	0	0	1	0	7	59					T	47455150	C	T	47455150	3	4	460	1	0	0	0	0	1	0	0	0	3722	565	20	3	102	3	COMMD8	4	47455150	Missense_Mutation	SNP	C	TCGA-YL-A8SI-01A-11D-A41K-08	40855080	47455150	143699126	13	31271											
ANK2	287	broad.mit.edu	37	chr4	114279456	114279456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaaggacctccccaccGtgcaaacgggtgatatacct	11	6	10	14	2	0	1	0	1	0	0	1	3	1	3	6	3	3	1	6	3	4	2	rs141013157	byFrequency	TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr4:114279456G>A	ENST00000357077.4	+	38	9735	c.9682G>A	c.(9682-9684)Gtg>Atg	p.V3228M	ANK2_ENST00000264366.6_Missense_Mutation_p.V3195M|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3228					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCTCCCCACCGTGCAAACGGG	0.488													G|||	3	0.000599042	8e-04	0.0014	5008	,	,		18646	0.001		0	False		,,,				2504	0					ENST00000357077.4																			0				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						c.(9682-9684)Gtg>Atg		ankyrin 2, neuronal							85	80	81					4																	114279456		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114279456G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9682G>A	4.37:g.114279456G>A	ENSP00000349588:p.Val3228Met					ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.V3195M|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	p.V3228M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	9735	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3195					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.9682G>A	CCDS3702.1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	0.006	-2.107305	0.00356	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.96200	-0.29;-0.3;-3.94	5.46	-8.69	0.00855	.	0.855681	0.10319	N	0.689001	T	0.79511	0.4458	N	0.01874	-0.695	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.72727	-0.4206	10	0.22706	T	0.39	.	3.7681	0.08630	0.2916:0.3374:0.2878:0.0831	.	3195;3228	Q01484;Q01484-4	ANK2_HUMAN;.	M	3228;3195;238	ENSP00000349588:V3228M;ENSP00000264366:V3195M;ENSP00000422498:V238M	ENSP00000264366:V3195M	V	+	1	0	ANK2	114498905	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.419000	0.07071	-0.961000	0.03609	-0.414000	0.06135	GTG		0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		5	36	0	0	0	1	0	5	36					A	114279456	G	A	114279456	3	1	460	1	0	0	0	0	1	0	0	0	621	1145	40	1	9897	1	ANK2	4	114279456	Missense_Mutation	SNP	G	TCGA-YL-A8SI-01A-11D-A41K-08	66824306	114279456	76874820	14	31272											
MAP3K1	4214	broad.mit.edu	37	chr5	56168713	56168713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctgcacagcagcaaaccGtacagcagcagcctttggct	11	6	11	13	1	0	0	0	0	0	0	0	1	0	0	2	1	9	8	2	1	2	2			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr5:56168713G>A	ENST00000399503.3	+	9	1567	c.1567G>A	c.(1567-1569)Gta>Ata	p.V523I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	523					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			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)		GCAGCAAACCGTACAGCAGCA	0.413																																						ENST00000399503.3																			0				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						c.(1567-1569)Gta>Ata		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							79	76	77					5																	56168713		1878	4107	5985	SO:0001583	missense	4214				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	g.chr5:56168713G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1567G>A	5.37:g.56168713G>A	ENSP00000382423:p.Val523Ile						p.V523I	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	9	1567	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	523						Missense_Mutation	SNP	ENST00000399503.3	37	c.1567G>A	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	2.737	-0.263163	0.05754	.	.	ENSG00000095015	ENST00000399503	T	0.63255	-0.03	5.58	-11.2	0.00127	.	3.368940	0.00757	N	0.001102	T	0.37732	0.1014	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13629	-1.0502	10	0.15952	T	0.53	.	2.7958	0.05401	0.1373:0.372:0.2955:0.1952	.	523	Q13233	M3K1_HUMAN	I	523	ENSP00000382423:V523I	ENSP00000382423:V523I	V	+	1	0	MAP3K1	56204470	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.847000	0.04331	-1.484000	0.01856	-1.223000	0.01593	GTA		0.413	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		3	34	0	0	0	1	0	3	34					A	56168713	G	A	56168713	3	1	460	1	0	0	0	0	1	0	0	0	9243	1145	40	1	1601	1	MAP3K1	5	56168713	Missense_Mutation	SNP	G	TCGA-YL-A8SI-01A-11D-A41K-08		56168713	124746547	15	31273											
EFNA5	1946	broad.mit.edu	37	chr5	107006189	107006189	+	Splice_Site	DEL	C	C	-																															ctccgcctgttatcggcttaCctggggttgctgctgttcca																										TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr5:107006189delC	ENST00000333274.6	-	1	407		c.e1+1		EFNA5_ENST00000509503.1_Splice_Site	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5						axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			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)		TATCGGCTTACCTGGGGTTGC	0.692																																						ENST00000333274.6																			0				large_intestine(6)	6						c.e1+1		ephrin-A5							46	43	44					5																	107006189		2178	4270	6448	SO:0001630	splice_region_variant	1946				cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding	g.chr5:107006189delC	U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"Ephrins"	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.125+1G>-	5.37:g.107006189delC						EFNA5_ENST00000509503.1_Splice_Site		NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN		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)	1	407	-		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)							Splice_Site	DEL	ENST00000333274.6	37		CCDS4097.1																																																																																				0.692	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962	Intron	2	4						2	4	---	---	---	---	-	107006189	C	-	107006189	8	5	460	1	0	1	0	1	0	0	1	0	4954	521	18	0	580	0	EFNA5	5	107006189	Splice_Site	DEL	C	TCGA-YL-A8SI-01A-11D-A41K-08	50837476	107006189	73909071	16	31274											
TRPA1	8989	broad.mit.edu	37	chr8	72973925	72973925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgctaccagaataggaCgatatcatcagtttaacaat	15	10	6	10	2	2	1	2	0	0	1	3	3	3	2	2	1	2	2	2	1	6	5	rs377547475		TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr8:72973925C>T	ENST00000262209.4	-	7	1086	c.879G>A	c.(877-879)tcG>tcA	p.S293S		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	293					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			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)	CAGAATAGGACGATATCATCA	0.423																																						ENST00000262209.4																			0				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						c.(877-879)tcG>tcA		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)	C		0,4406		0,0,2203	220	175	190		879	-9.9	0	8		190	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRPA1	NM_007332.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		293/1120	72973925	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72973925C>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.879G>A	8.37:g.72973925C>T							p.S293S	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		7	1086	-			293					A6NIN6	Silent	SNP	ENST00000262209.4	37	c.879G>A	CCDS34908.1																																																																																				0.423	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		5	47	0	0	0	1	0	5	47					T	72973925	C	T	72973925	2	4	460	1	0	0	0	0	0	0	0	1	16574	523	19	1		1	TRPA1	8	72973925	Silent	SNP	C	TCGA-YL-A8SI-01A-11D-A41K-08		72973925	73390097	17	31275											
NR4A3	8013	broad.mit.edu	37	chr9	102590448	102590448	+	Missense_Mutation	SNP	C	C	A																															acaccaagctgaccatggacCttggcagcactgagatcacg																										TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr9:102590448C>A	ENST00000395097.2	+	3	853	c.124C>A	c.(124-126)Ctt>Att	p.L42I	NR4A3_ENST00000330847.1_Missense_Mutation_p.L53I|NR4A3_ENST00000338488.4_Missense_Mutation_p.L42I	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	42					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GACCATGGACCTTGGCAGCAC	0.572			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(157-159)Ctt>Att		nuclear receptor subfamily 4, group A, member 3							163	126	139					9																	102590448		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590448C>A	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.124C>A	9.37:g.102590448C>A	ENSP00000378531:p.Leu42Ile					NR4A3_ENST00000395097.2_Missense_Mutation_p.L42I|NR4A3_ENST00000338488.4_Missense_Mutation_p.L42I	p.L53I			Q92570	NR4A3_HUMAN			2	201	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	42					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.157C>A	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634898	0.47049	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	D;D;D	0.94046	-3.19;-3.05;-3.34	5.77	3.61	0.41365	.	1.864860	0.01994	N	0.045741	D	0.94364	0.8188	M	0.63428	1.95	0.42504	D	0.992941	B;B;P	0.39326	0.357;0.244;0.668	B;B;B	0.43728	0.247;0.125;0.429	T	0.83332	-0.0012	10	0.46703	T	0.11	.	13.768	0.63006	0.0:0.8555:0.0:0.1445	.	53;42;42	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	I	42;42;53	ENSP00000378531:L42I;ENSP00000340301:L42I;ENSP00000333122:L53I	ENSP00000333122:L53I	L	+	1	0	NR4A3	101630269	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	2.652000	0.46682	1.437000	0.47472	0.557000	0.71058	CTT		0.572	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			6	46	1	0	0.248553	1	0.248553	6	46					A	102590448	C	A	102590448	3	1	460	1	0	0	0	0	1	0	0	0	10634	681	24	5	163	5	NR4A3	9	102590448	Missense_Mutation	SNP	C	TCGA-YL-A8SI-01A-11D-A41K-08		102590448	38622983	18	31276	150	2									
NR4A3	8013	broad.mit.edu	37	chr9	102590458	102590458	+	Missense_Mutation	SNP	C	C	T																															gaccatggaccttggcagcaCtgagatcacggctacagcca																										TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr9:102590458C>T	ENST00000395097.2	+	3	863	c.134C>T	c.(133-135)aCt>aTt	p.T45I	NR4A3_ENST00000330847.1_Missense_Mutation_p.T56I|NR4A3_ENST00000338488.4_Missense_Mutation_p.T45I	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	45					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CTTGGCAGCACTGAGATCACG	0.567			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(166-168)aCt>aTt		nuclear receptor subfamily 4, group A, member 3							161	125	137					9																	102590458		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590458C>T	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.134C>T	9.37:g.102590458C>T	ENSP00000378531:p.Thr45Ile					NR4A3_ENST00000395097.2_Missense_Mutation_p.T45I|NR4A3_ENST00000338488.4_Missense_Mutation_p.T45I	p.T56I			Q92570	NR4A3_HUMAN			2	211	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	45					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.167C>T	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991442	0.74703	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	D;D;D	0.92099	-2.87;-2.51;-2.97	5.77	5.77	0.91146	.	1.714010	0.02277	N	0.069074	D	0.93112	0.7807	L	0.55481	1.735	0.41161	D	0.986095	B;B;P	0.36909	0.27;0.177;0.573	B;B;B	0.39258	0.106;0.049;0.295	T	0.76228	-0.3036	10	0.29301	T	0.29	.	19.9944	0.97379	0.0:1.0:0.0:0.0	.	56;45;45	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	I	45;45;56	ENSP00000378531:T45I;ENSP00000340301:T45I;ENSP00000333122:T56I	ENSP00000333122:T56I	T	+	2	0	NR4A3	101630279	1.000000	0.71417	0.970000	0.41538	0.876000	0.50452	5.013000	0.64023	2.720000	0.93068	0.557000	0.71058	ACT		0.567	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			4	49	0	0	0	1	0	4	49					T	102590458	C	T	102590458	3	4	460	1	0	0	0	0	1	0	0	0	10634	565	20	3	173	3	NR4A3	9	102590458	Missense_Mutation	SNP	C	TCGA-YL-A8SI-01A-11D-A41K-08	10	102590458	38622973	19	31277	150	2									
MAT1A	4143	broad.mit.edu	37	chr10	82036308	82036308	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgatggtgtggatgcgcaCagggatgactgcgccattgt	8	9	16	8	3	0	1	0	1	0	0	0	5	0	3	1	3	2	1	1	3	0	1	rs374844302		TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr10:82036308C>G	ENST00000372213.3	-	6	852	c.592G>C	c.(592-594)Gtg>Ctg	p.V198L	MAT1A_ENST00000485270.1_5'Flank	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	198					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGGATGCGCACAGGGATGACT	0.577																																						ENST00000372213.3																			0				endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(592-594)Gtg>Ctg		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						200	158	172					10																	82036308		2203	4300	6503	SO:0001583	missense	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82036308C>G		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"S-adenosylmethionine synthetase"	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.592G>C	10.37:g.82036308C>G	ENSP00000361287:p.Val198Leu						p.V198L	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	Colorectal(32;0.229)		6	852	-			198					D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	c.592G>C	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	C	0.848	-0.739590	0.03088	.	.	ENSG00000151224	ENST00000372213;ENST00000372206;ENST00000455001	D;D	0.82711	-1.64;-1.64	4.84	-0.288	0.12855	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.479628	0.24463	N	0.038305	T	0.61515	0.2353	N	0.13327	0.33	0.25369	N	0.988712	B	0.02656	0.0	B	0.04013	0.001	T	0.43507	-0.9387	10	0.15066	T	0.55	-8.1634	5.6357	0.17536	0.0:0.5022:0.2642:0.2336	.	198	Q00266	METK1_HUMAN	L	198;198;135	ENSP00000361287:V198L;ENSP00000414961:V135L	ENSP00000361280:V198L	V	-	1	0	MAT1A	82026288	0.000000	0.05858	0.022000	0.16811	0.997000	0.91878	-0.441000	0.06879	-0.128000	0.11641	0.655000	0.94253	GTG		0.577	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		9	119	0	0	0	1	0	9	119					G	82036308	C	G	82036308	3	3	460	1	0	0	0	0	1	0	0	0	9329	478	17	5	611	5	MAT1A	10	82036308	Missense_Mutation	SNP	C	TCGA-YL-A8SI-01A-11D-A41K-08		82036308	53498439	20	31278											
LRIT2	340745	broad.mit.edu	37	chr10	85981739	85981739	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctatgtgcccttcaccGtcatcacagacagctggatg	8	11	10	12	1	4	1	3	0	1	1	4	2	4	2	2	1	2	1	2	1	1	2	rs374527427		TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr10:85981739G>A	ENST00000372113.4	-	3	1595	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	LRIT2_ENST00000538192.1_Silent_p.D540D	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	530						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GCCCTTCACCGTCATCACAGA	0.587																																						ENST00000372113.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						c.(1588-1590)gaC>gaT		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2							144	123	130					10																	85981739		2203	4300	6503	SO:0001819	synonymous_variant	340745					integral to membrane		g.chr10:85981739G>A		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1590C>T	10.37:g.85981739G>A						LRIT2_ENST00000538192.1_Silent_p.D540D	p.D530D	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN			3	1595	-			530					B7ZME6	Silent	SNP	ENST00000372113.4	37	c.1590C>T	CCDS31234.1																																																																																				0.587	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		5	69	0	0	0	1	0	5	69					A	85981739	G	A	85981739	2	1	460	1	0	0	0	0	0	0	0	1	8948	1136	40	1		1	LRIT2	10	85981739	Silent	SNP	G	TCGA-YL-A8SI-01A-11D-A41K-08	3945431	85981739	49553008	21	31279											
MS4A5	64232	broad.mit.edu	37	chr11	60201358	60201358	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggttattctcaccaaaatAgtcagtgtaaggctgttact	11	14	9	7	0	2	0	2	0	1	0	3	0	2	0	1	2	1	4	1	2	6	5			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr11:60201358A>T	ENST00000300190.2	+	4	546	c.460A>T	c.(460-462)Agt>Tgt	p.S154C	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	154						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TCACCAAAATAGTCAGTGTAA	0.363																																						ENST00000300190.2																			0				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						c.(460-462)Agt>Tgt		membrane-spanning 4-domains, subfamily A, member 5							205	194	198					11																	60201358		2203	4300	6503	SO:0001583	missense	64232					integral to membrane	receptor activity	g.chr11:60201358A>T	AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.460A>T	11.37:g.60201358A>T	ENSP00000300190:p.Ser154Cys					MS4A5_ENST00000534071.1_3'UTR	p.S154C	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN			4	546	+			154					Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	c.460A>T	CCDS7987.1	.	.	.	.	.	.	.	.	.	.	A	9.280	1.047827	0.19827	.	.	ENSG00000166930	ENST00000300190	T	0.02498	4.27	3.99	-1.17	0.09648	.	2.188160	0.01534	N	0.018918	T	0.08670	0.0215	M	0.70275	2.135	0.09310	N	1	D	0.63046	0.992	P	0.54372	0.75	T	0.24440	-1.0160	10	0.56958	D	0.05	2.9619	3.1821	0.06588	0.3982:0.0:0.3953:0.2065	.	154	Q9H3V2	MS4A5_HUMAN	C	154	ENSP00000300190:S154C	ENSP00000300190:S154C	S	+	1	0	MS4A5	59957934	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.135000	0.15952	-0.077000	0.12752	0.533000	0.62120	AGT		0.363	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1			11	64	0	0	0	1	0	11	64					T	60201358	A	T	60201358	3	4	460	1	0	0	0	0	1	0	0	0	9863	420	15	5	474	5	MS4A5	11	60201358	Missense_Mutation	SNP	A	TCGA-YL-A8SI-01A-11D-A41K-08		60201358	74805158	22	31280											
MLL2	8085	broad.mit.edu	37	chr12	49434129	49434129	+	Frame_Shift_Del	DEL	G	G	-																															cagccttaaaggcaacttcaGggggctggggtcggggtggc																										TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr12:49434129delG	ENST00000301067.7	-	31	7423	c.7424delC	c.(7423-7425)cctfs	p.P2475fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2475	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGCAACTTCAGGGGGCTGGGG	0.662																																						ENST00000301067.7																			0											c.(7423-7425)ctfs		lysine (K)-specific methyltransferase 2D							36	41	39					12																	49434129		1833	4056	5889	SO:0001589	frameshift_variant	8085							g.chr12:49434129delG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7424delC	12.37:g.49434129delG	ENSP00000301067:p.Pro2475fs						p.P2475fs	NM_003482.3	NP_003473.3					31	7423	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.7424delC	CCDS44873.1																																																																																				0.662	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			7	47						7	47	---	---	---	---	-	49434129	G	-	49434129	7	5	460	1	0	1	0	1	0	0	0	0	9621	1000	35	0	9285	0	MLL2	12	49434129	Frame_Shift_Del	DEL	G	TCGA-YL-A8SI-01A-11D-A41K-08		49434129	84417766	23	31281											
RYR3	6263	broad.mit.edu	37	chr15	34093025	34093025	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccagctcttccgcatggtGgcagaagtcttcattctgtg	7	12	11	11	1	4	1	1	0	3	1	5	2	5	1	2	2	1	3	2	2	1	3			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr15:34093025G>C	ENST00000389232.4	+	68	9955	c.9885G>C	c.(9883-9885)gtG>gtC	p.V3295V	RYR3_ENST00000415757.3_Silent_p.V3295V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3295					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCGCATGGTGGCAGAAGTCT	0.433																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9883-9885)gtG>gtC		ryanodine receptor 3							115	109	111					15																	34093025		1862	4105	5967	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34093025G>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9885G>C	15.37:g.34093025G>C						RYR3_ENST00000415757.3_Silent_p.V3295V	p.V3295V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	68	9955	+		all_lung(180;7.18e-09)	3295					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.9885G>C	CCDS45210.1																																																																																				0.433	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	36	0	0	0	1	0	7	36					C	34093025	G	C	34093025	2	2	460	1	0	0	0	0	0	0	0	1	13770	1335	47	5		5	RYR3	15	34093025	Silent	SNP	G	TCGA-YL-A8SI-01A-11D-A41K-08		34093025	68438367	24	31282											
VASN	114990	broad.mit.edu	37	chr16	4432517	4432517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgggcgggtgccggagggcGaggaggcctgcggggaggcc	4	2	24	11	5	0	0	0	0	0	0	0	4	0	3	4	9	2	0	4	9	0	0	rs199502520		TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr16:4432517G>A	ENST00000304735.3	+	2	1794	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	CORO7_ENST00000423908.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	547	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						GCCGGAGGGCGAGGAGGCCTG	0.711																																						ENST00000304735.3																			0				breast(1)|lung(3)|prostate(1)|skin(1)	6						c.(1639-1641)Gag>Aag		vasorin		G	,,,,LYS/GLU	1,4297		0,1,2148	8	13	11		,,,,1639	2.9	0.6	16		11	0,8512		0,0,4256	yes	intron,intron,intron,intron,missense	CORO7,VASN,CORO7-PAM16	NM_001201472.1,NM_001201473.1,NM_001201479.1,NM_024535.4,NM_138440.2	,,,,56	0,1,6404	AA,AG,GG		0.0,0.0233,0.0078	,,,,possibly-damaging	,,,,547/674	4432517	1,12809	2149	4256	6405	SO:0001583	missense	114990					extracellular region|integral to membrane		g.chr16:4432517G>A	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"slit-like 2 (Drosophila)"	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.1639G>A	16.37:g.4432517G>A	ENSP00000306864:p.Glu547Lys					CORO7_ENST00000251166.4_Intron|CORO7_ENST00000537233.2_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000539968.1_Intron	p.E547K	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN			2	1794	+			547			Fibronectin type-III.		Q6UXL4|Q6UXL5|Q96CX1	Missense_Mutation	SNP	ENST00000304735.3	37	c.1639G>A	CCDS10514.1	.	.	.	.	.	.	.	.	.	.	G	6.660	0.490300	0.12702	2.33E-4	0.0	ENSG00000168140	ENST00000304735	T	0.55930	0.49	4.88	2.93	0.34026	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.406223	0.24345	N	0.039332	T	0.26484	0.0647	N	0.08118	0	0.29024	N	0.886123	B	0.11235	0.004	B	0.04013	0.001	T	0.16482	-1.0401	10	0.15066	T	0.55	-12.0811	7.4403	0.27179	0.1805:0.0:0.8195:0.0	.	547	Q6EMK4	VASN_HUMAN	K	547	ENSP00000306864:E547K	ENSP00000306864:E547K	E	+	1	0	VASN	4372518	0.973000	0.33851	0.597000	0.28824	0.258000	0.26162	3.487000	0.53222	0.675000	0.31264	0.655000	0.94253	GAG		0.711	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		3	4	0	0	0	1	0	3	4					A	4432517	G	A	4432517	3	1	460	1	0	0	0	0	1	0	0	0	17124	1059	37	2	1641	2	VASN	16	4432517	Missense_Mutation	SNP	G	TCGA-YL-A8SI-01A-11D-A41K-08		4432517	85922236	25	31283											
MFSD11	79157	broad.mit.edu	37	chr17	74738072	74738072	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgtacattgccgttttcatCcagcctttcccgtggtcctt	5	16	7	13	2	1	0	1	0	0	0	4	0	4	0	5	1	3	2	5	1	1	6			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr17:74738072C>T	ENST00000588460.1	+	4	2324	c.282C>T	c.(280-282)atC>atT	p.I94I	MFSD11_ENST00000593181.1_Silent_p.I94I|MFSD11_ENST00000590514.1_Silent_p.I94I|MFSD11_ENST00000586622.1_Silent_p.I94I|MFSD11_ENST00000355954.3_Silent_p.I94I|MFSD11_ENST00000336509.4_Silent_p.I94I	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	94						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CCGTTTTCATCCAGCCTTTCC	0.398																																						ENST00000588460.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						c.(280-282)atC>atT		major facilitator superfamily domain containing 11							351	302	319					17																	74738072		2203	4300	6503	SO:0001819	synonymous_variant	79157					integral to membrane		g.chr17:74738072C>T	BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.282C>T	17.37:g.74738072C>T						MFSD11_ENST00000593181.1_Silent_p.I94I|MFSD11_ENST00000590514.1_Silent_p.I94I|MFSD11_ENST00000586622.1_Silent_p.I94I|MFSD11_ENST00000355954.3_Silent_p.I94I|MFSD11_ENST00000336509.4_Silent_p.I94I	p.I94I	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN			4	2324	+			94					O43442|Q9NXI5	Silent	SNP	ENST00000588460.1	37	c.282C>T	CCDS11750.1																																																																																				0.398	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311		4	168	0	0	0	1	0	4	168					T	74738072	C	T	74738072	2	4	460	1	0	0	0	0	0	0	0	1	9529	845	30	3		3	MFSD11	17	74738072	Silent	SNP	C	TCGA-YL-A8SI-01A-11D-A41K-08		74738072	6457138	26	31284											
PPP4R1	9989	broad.mit.edu	37	chr18	9577161	9577161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaaagtagatatgaaaggtCccagagactgaaaagctgct	17	7	10	7	0	0	4	0	2	0	2	1	5	1	4	1	1	2	3	1	1	7	2			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr18:9577161C>A	ENST00000400556.3	-	10	1020	c.947G>T	c.(946-948)gGa>gTa	p.G316V	PPP4R1_ENST00000580583.1_5'UTR|PPP4R1_ENST00000400555.3_Missense_Mutation_p.G299V	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	316					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TATGAAAGGTCCCAGAGACTG	0.338																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(946-948)gGa>gTa		protein phosphatase 4, regulatory subunit 1							70	69	69					18																	9577161		1812	4070	5882	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9577161C>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.947G>T	18.37:g.9577161C>A	ENSP00000383402:p.Gly316Val					PPP4R1_ENST00000580583.1_5'UTR|PPP4R1_ENST00000400555.3_Missense_Mutation_p.G299V	p.G316V	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			10	1020	-			316					Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.947G>T	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834005	0.91036	.	.	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	T;T	0.17854	2.25;2.25	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (1);	0.124861	0.52532	D	0.000062	T	0.46756	0.1409	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.998	D;D;D	0.97110	1.0;0.95;0.978	T	0.37865	-0.9687	9	.	.	.	-32.512	18.9286	0.92554	0.0:1.0:0.0:0.0	.	299;316;299	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	V	316;299;227	ENSP00000383402:G316V;ENSP00000383401:G299V	.	G	-	2	0	PPP4R1	9567161	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.054000	0.76649	2.804000	0.96469	0.650000	0.86243	GGA		0.338	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		6	40	1	0	0.00116845	1	0.00123718	6	40					A	9577161	C	A	9577161	3	1	460	1	0	0	0	0	1	0	0	0	12403	855	30	5	1949	5	PPP4R1	18	9577161	Missense_Mutation	SNP	C	TCGA-YL-A8SI-01A-11D-A41K-08		9577161	68500087	27	31285											
ZNF846	162993	broad.mit.edu	37	chr19	9869005	9869005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacatagggcttctctcCactgtgaattcttccatgtc	9	13	7	12	0	2	2	0	1	2	1	6	2	4	2	2	1	0	1	2	1	2	4			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr19:9869005C>T	ENST00000397902.2	-	6	1161	c.748G>A	c.(748-750)Gga>Aga	p.G250R	ZNF846_ENST00000588267.1_Missense_Mutation_p.G121R|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Missense_Mutation_p.G121R	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						GGCTTCTCTCCACTGTGAATT	0.383																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(748-750)Gga>Aga		zinc finger protein 846							89	95	93					19																	9869005		2101	4247	6348	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9869005C>T	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"Zinc fingers, C2H2-type", "-"	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.748G>A	19.37:g.9869005C>T	ENSP00000380999:p.Gly250Arg					ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Missense_Mutation_p.G121R|ZNF846_ENST00000592859.1_Missense_Mutation_p.G121R	p.G250R	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			6	1161	-			250					A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.748G>A	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	21.8	4.207490	0.79240	.	.	ENSG00000196605	ENST00000397902	T	0.01629	4.72	1.29	1.29	0.21616	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07548	0.0190	M	0.73319	2.225	0.30070	N	0.810153	D	0.89917	1.0	D	0.87578	0.998	T	0.04885	-1.0920	8	.	.	.	.	8.5337	0.33351	0.0:1.0:0.0:0.0	.	250	Q147U1	ZN846_HUMAN	R	250	ENSP00000380999:G250R	.	G	-	1	0	ZNF846	9730005	0.001000	0.12720	0.008000	0.14137	0.836000	0.47400	1.380000	0.34351	1.037000	0.40024	0.456000	0.33151	GGA		0.383	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		7	62	0	0	0	1	0	7	62					T	9869005	C	T	9869005	3	4	460	1	0	0	0	0	1	0	0	0	18189	603	21	3	857	3	ZNF846	19	9869005	Missense_Mutation	SNP	C	TCGA-YL-A8SI-01A-11D-A41K-08		9869005	49259978	28	31286											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	17	9	6	0	1	2	0	2	1	0	2	3	1	3	2	2	1	3	2	2	3	6			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156	149	152					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		5	183	0	0	0	1	0	5	183					A	53644386	T	A	53644386	2	1	460	1	0	0	0	0	0	0	0	1	17858	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-YL-A8SI-01A-11D-A41K-08	43775381	53644386	5484597	29	31287											
FAM199X	139231	broad.mit.edu	37	chrX	103420367	103420367	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtgaggagctgttttcAtctgtgtctgttggagatca	7	14	14	6	0	4	2	2	1	2	1	4	4	4	3	0	3	1	4	0	3	0	3			TCGA-YL-A8SI-01A-11D-A41K-08	TCGA-YL-A8SI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b05122e-49c2-470c-94e2-c5d5199dfa3e	61a6c1de-8124-49df-af36-5bfb52d1b004	g.chrX:103420367A>G	ENST00000493442.1	+	2	427	c.261A>G	c.(259-261)tcA>tcG	p.S87S		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	87										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						AGCTGTTTTCATCTGTGTCTG	0.423																																						ENST00000493442.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(259-261)tcA>tcG		family with sequence similarity 199, X-linked							219	171	188					X																	103420367		2203	4300	6503	SO:0001819	synonymous_variant	139231							g.chrX:103420367A>G	BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"chromosome X open reading frame 39"	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.261A>G	X.37:g.103420367A>G							p.S87S	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN			2	427	+			87					Q8WVP6|Q96AV3	Silent	SNP	ENST00000493442.1	37	c.261A>G	CCDS35364.1																																																																																				0.423	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318		4	38	0	0	0	1	0	4	38					G	103420367	A	G	103420367	2	3	460	1	0	0	0	0	0	0	0	1	5530	204	8	4		4	FAM199X	23	103420367	Silent	SNP	A	TCGA-YL-A8SI-01A-11D-A41K-08		103420367	51850193	30	31288											
OR11L1	391189	broad.mit.edu	37	chr1	248004453	248004453	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggtcccgtagtagagaGtgacaacagccaggtgggag	11	7	15	8	1	1	2	1	1	0	1	2	4	2	3	2	3	2	2	2	3	3	2			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr1:248004453G>C	ENST00000355784.2	-	1	801	c.746C>G	c.(745-747)aCt>aGt	p.T249S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	249						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTAGTAGAGAGTGACAACAGC	0.498																																						ENST00000355784.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(745-747)aCt>aGt		olfactory receptor, family 11, subfamily L, member 1							114	110	111					1																	248004453		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004453G>C	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.746C>G	1.37:g.248004453G>C	ENSP00000348033:p.Thr249Ser						p.T249S	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	801	-	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)		249						Missense_Mutation	SNP	ENST00000355784.2	37	c.746C>G	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.477376	0.01035	.	.	ENSG00000197591	ENST00000355784	T	0.38240	1.15	4.42	2.45	0.29901	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31589	U	0.007387	T	0.17109	0.0411	N	0.12569	0.235	0.21719	N	0.999579	B	0.24618	0.107	B	0.28305	0.088	T	0.31392	-0.9945	10	0.05436	T	0.98	.	10.0658	0.42303	0.0:0.4162:0.4416:0.1422	.	249	Q8NGX0	O11L1_HUMAN	S	249	ENSP00000348033:T249S	ENSP00000348033:T249S	T	-	2	0	OR11L1	246071076	0.000000	0.05858	0.964000	0.40570	0.483000	0.33249	-0.061000	0.11693	0.565000	0.29255	-0.386000	0.06593	ACT		0.498	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		9	28	0	0	0	1	0	9	28					C	248004453	G	C	248004453	3	2	461	1	0	0	0	0	1	0	0	0	10930	1029	36	5	226	5	OR11L1	1	248004453	Missense_Mutation	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08		248004453	1246168	1	31289											
VSNL1	7447	broad.mit.edu	37	chr2	17830730	17830730	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcatgccttccgaaccttCgacaagaatggggacggcac	11	6	11	13	3	0	1	0	0	0	1	2	4	1	2	3	3	3	2	3	3	3	2			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr2:17830730C>T	ENST00000406397.1	+	3	741	c.216C>T	c.(214-216)ttC>ttT	p.F72F	VSNL1_ENST00000295156.4_Silent_p.F72F|VSNL1_ENST00000404666.2_Silent_p.F72F			P62760	VISL1_HUMAN	visinin-like 1	72	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCGAACCTTCGACAAGAATG	0.557																																						ENST00000406397.1																			0				NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(214-216)ttC>ttT		visinin-like 1							158	149	152					2																	17830730		2203	4300	6503	SO:0001819	synonymous_variant	7447						calcium ion binding	g.chr2:17830730C>T		CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"EF-hand domain containing"	12722	protein-coding gene	gene with protein product	"hippocalcin-like protein 3"	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.216C>T	2.37:g.17830730C>T						VSNL1_ENST00000295156.4_Silent_p.F72F|VSNL1_ENST00000404666.2_Silent_p.F72F	p.F72F			P62760	VISL1_HUMAN			3	741	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		72			EF-hand 2.		D6W515|P28677|P29103|P42323|Q9UM20	Silent	SNP	ENST00000406397.1	37	c.216C>T	CCDS1689.1																																																																																				0.557	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1	NM_003385		6	67	0	0	0	1	0	6	67					T	17830730	C	T	17830730	2	4	461	1	0	0	0	0	0	0	0	1	17224	883	31	2		2	VSNL1	2	17830730	Silent	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08		17830730	225368643	2	31290											
PLB1	151056	broad.mit.edu	37	chr2	28752252	28752252	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccacactggaaagagaGtcataccccacgatggtgct	11	8	11	11	1	1	1	1	0	0	1	1	4	1	2	3	2	3	1	3	2	2	1			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr2:28752252G>T	ENST00000327757.5	+	7	438	c.394G>T	c.(394-396)Gtc>Ttc	p.V132F	PLB1_ENST00000422425.2_Missense_Mutation_p.V132F	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	132	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGGAAAGAGAGTCATACCCCA	0.483																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(394-396)Gtc>Ttc		phospholipase B1							223	200	208					2																	28752252		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28752252G>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.394G>T	2.37:g.28752252G>T	ENSP00000330442:p.Val132Phe					PLB1_ENST00000327757.5_Missense_Mutation_p.V132F	p.V132F	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			7	438	+	Acute lymphoblastic leukemia(172;0.155)		132			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.394G>T	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.55|14.55	2.570188|2.570188	0.45798|0.45798	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000416713;ENST00000327757;ENST00000422425	.|T;T;T	.|0.22743	.|1.94;2.67;2.65	5.58|5.58	-5.5|-5.5	0.02576|0.02576	.|.	.|2.471040	.|0.01379	.|N	.|0.012844	T|T	0.18257|0.18257	0.0438|0.0438	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|P;P	.|0.36683	.|0.517;0.565	.|B;B	.|0.32864	.|0.154;0.101	T|T	0.33240|0.33240	-0.9876|-0.9876	5|10	.|0.72032	.|D	.|0.01	2.6794|2.6794	7.3361|7.3361	0.26611|0.26611	0.3652:0.437:0.1978:0.0|0.3652:0.437:0.1978:0.0	.|.	.|132;132	.|Q6P1J6-3;Q6P1J6	.|.;PLB1_HUMAN	D|F	130|76;132;132	.|ENSP00000407076:V76F;ENSP00000330442:V132F;ENSP00000416440:V132F	.|ENSP00000330442:V132F	E|V	+|+	3|1	2|0	PLB1|PLB1	28605756|28605756	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.779000|-0.779000	0.04659|0.04659	-1.334000|-1.334000	0.02244|0.02244	-0.208000|-0.208000	0.12717|0.12717	GAG|GTC		0.483	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			8	53	1	0	0.0381472	1	0.0381472	8	53					T	28752252	G	T	28752252	3	4	461	1	0	0	0	0	1	0	0	0	12024	1029	36	5	420	5	PLB1	2	28752252	Missense_Mutation	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08	10921522	28752252	214447121	3	31291											
ADRA2B	151	broad.mit.edu	37	chr2	96780975	96780977	+	In_Frame_Del	DEL	TCC	TCC	-																															ctgcctggggttcacactctTcctcctcctcctcctcctct																										TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr2:96780975_96780977delTCC	ENST00000409345.3	-	1	1007_1009	c.912_914delGGA	c.(910-915)gaggaa>gaa	p.304_305EE>E		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	304	Asp/Glu-rich (acidic).				activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTCACActcttcctcctcctcct	0.655																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(910-915)gaa>ga		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)																																			SO:0001651	inframe_deletion	151				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	g.chr2:96780975_96780977delTCC	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"GPCR / Class A : Adrenoceptors : alpha"	282	protein-coding gene	gene with protein product		104260	"adrenergic, alpha-2B-, receptor"	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.912_914delGGA	2.37:g.96780984_96780986delTCC	ENSP00000387281:p.Glu306del						p.EE304del	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	1007_1009	-			307			Asp/Glu-rich (acidic).		Q4TUH9|Q53RF2|Q9BZK0	In_Frame_Del	DEL	ENST00000409345.3	37	c.912_914delGGA	CCDS56129.1																																																																																				0.655	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			3	3						3	3	---	---	---	---	-	96780977	TCC	-	96780975	7	5	461	1	0	1	0	1	0	0	0	0	338	1783	62	0	433	0	ADRA2B	2	96780975	In_Frame_Del	DEL	TCC	TCGA-YL-A8SJ-01B-11D-A377-08	68028723	96780975	146418398	4	31292											
IL1A	3552	broad.mit.edu	37	chr2	113535636	113535636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgagattcttagaatcacGgtaattttagcatcatcctt	11	17	6	7	1	3	2	2	1	1	2	4	3	4	2	1	1	1	2	1	1	4	7			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr2:113535636G>A	ENST00000263339.3	-	6	698	c.543C>T	c.(541-543)acC>acT	p.T181T		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	181					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)	p.T181T(1)		breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	TTAGAATCACGGTAATTTTAG	0.373																																						ENST00000263339.3																			1	Substitution - coding silent(1)	p.T181T(1)	lung(1)	breast(2)|large_intestine(1)|lung(9)	12						c.(541-543)acC>acT		interleukin 1, alpha							169	154	160					2																	113535636		2203	4300	6503	SO:0001819	synonymous_variant	3552				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	g.chr2:113535636G>A	M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"Interleukins and interleukin receptors", "Endogenous ligands"	5991	protein-coding gene	gene with protein product	"preinterleukin 1 alpha", "hematopoietin-1", "pro-interleukin-1-alpha"	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.543C>T	2.37:g.113535636G>A							p.T181T	NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN			6	698	-			181					Q53QF9|Q7RU02	Silent	SNP	ENST00000263339.3	37	c.543C>T	CCDS2101.1																																																																																				0.373	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254084.1	NM_000575		15	64	0	0	0	1	0	15	64					A	113535636	G	A	113535636	2	1	461	1	0	0	0	0	0	0	0	1	7650	1103	39	2		2	IL1A	2	113535636	Silent	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08	16754661	113535636	129663737	5	31293											
STEAP3	55240	broad.mit.edu	37	chr2	120005702	120005702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcagcttcttctgcgccGccctgcacgccctctacagc	4	10	8	19	3	4	0	1	0	3	0	4	0	4	0	3	0	6	3	3	0	1	3			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr2:120005702G>A	ENST00000354888.5	+	4	1444	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393108.2_Missense_Mutation_p.A314T|STEAP3_ENST00000450943.2_Missense_Mutation_p.A314T|STEAP3_ENST00000393106.2_Missense_Mutation_p.A314T|STEAP3_ENST00000409811.1_Missense_Mutation_p.A314T|STEAP3_ENST00000425223.2_Missense_Mutation_p.A314T|STEAP3_ENST00000393107.2_Missense_Mutation_p.A314T|STEAP3_ENST00000393110.2_Missense_Mutation_p.A324T	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	314	Ferric oxidoreductase.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CTTCTGCGCCGCCCTGCACGC	0.672																																						ENST00000354888.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(940-942)Gcc>Acc		STEAP family member 3, metalloreductase							31	28	29					2																	120005702		2193	4285	6478	SO:0001583	missense	55240				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	g.chr2:120005702G>A	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.940G>A	2.37:g.120005702G>A	ENSP00000346961:p.Ala314Thr					STEAP3_ENST00000450943.2_Missense_Mutation_p.A314T|STEAP3_ENST00000409811.1_Missense_Mutation_p.A314T|STEAP3_ENST00000425223.2_Missense_Mutation_p.A314T|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393108.2_Missense_Mutation_p.A314T|STEAP3_ENST00000393110.2_Missense_Mutation_p.A324T|STEAP3_ENST00000393107.2_Missense_Mutation_p.A314T|STEAP3_ENST00000393106.2_Missense_Mutation_p.A314T	p.A314T	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN			4	1444	+			314			Ferric oxidoreductase.		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	c.940G>A	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908504	0.33721	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	D;D;D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	4.49	1.65	0.23941	Flavoprotein transmembrane component (1);	0.383991	0.25561	N	0.029821	T	0.79452	0.4448	N	0.19112	0.55	0.23831	N	0.99672	B;B;B	0.17268	0.021;0.011;0.008	B;B;B	0.21917	0.037;0.008;0.005	T	0.63278	-0.6673	9	.	.	.	-13.6584	5.3892	0.16234	0.1635:0.0:0.5827:0.2538	.	314;324;314	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	T	314;314;314;324;314;314;314;314	ENSP00000376820:A314T;ENSP00000346961:A314T;ENSP00000396873:A314T;ENSP00000376822:A324T;ENSP00000376818:A314T;ENSP00000386510:A314T;ENSP00000376819:A314T;ENSP00000396214:A314T	.	A	+	1	0	STEAP3	119722172	0.001000	0.12720	0.965000	0.40720	0.985000	0.73830	0.893000	0.28336	0.657000	0.30906	0.462000	0.41574	GCC		0.672	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		3	26	0	0	0	1	0	3	26					A	120005702	G	A	120005702	3	1	461	1	0	0	0	0	1	0	0	0	15278	1087	38	1	980	1	STEAP3	2	120005702	Missense_Mutation	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08	6470066	120005702	123193671	6	31294											
GHRL	51738	broad.mit.edu	37	chr3	10331494	10331494	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttgacctccatcttcCgggcggagccagcctgctag	5	10	11	15	2	2	1	0	1	2	0	4	2	4	2	5	2	4	2	5	2	1	3	rs113751742	byFrequency	TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr3:10331494C>T	ENST00000335542.8	-	4	1047	c.177G>A	c.(175-177)ccG>ccA	p.P59P	GHRL_ENST00000437422.2_Silent_p.P47P|GHRL_ENST00000450603.1_Silent_p.P59P|GHRL_ENST00000449238.2_Silent_p.P46P|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000449554.2_Silent_p.P58P|GHRL_ENST00000446937.2_Intron|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000457360.1_Silent_p.P59P|GHRL_ENST00000476283.1_5'Flank|GHRL_ENST00000430179.1_Silent_p.P58P|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000287656.7_Silent_p.P58P|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000429122.1_Silent_p.P59P|GHRL_ENST00000422159.1_Silent_p.P59P|GHRL_ENST00000439975.2_Intron			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	59					actin polymerization or depolymerization (GO:0008154)|activation of MAPK activity (GO:0000187)|adult feeding behavior (GO:0008343)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|cortisol secretion (GO:0043400)|decidualization (GO:0046697)|dendrite development (GO:0016358)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|glucose metabolic process (GO:0006006)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of locomotion (GO:0040013)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of synapse assembly (GO:0051965)|regulation of cell proliferation (GO:0042127)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to estrogen (GO:0043627)|response to hormone (GO:0009725)	axon (GO:0030424)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|ghrelin receptor binding (GO:0031768)|growth hormone-releasing hormone activity (GO:0016608)|protein tyrosine kinase activator activity (GO:0030296)			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						CTCCATCTTCCGGGCGGAGCC	0.587													C|||	2	0.000399361	8e-04	0	5008	,	,		17449	0.001		0	False		,,,				2504	0					ENST00000335542.8																			0				breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						c.(175-177)ccG>ccA		ghrelin/obestatin prepropeptide		C	,,,,	2,4404	4.2+/-10.8	0,2,2201	146	155	152		174,141,138,,177	-3.8	0	3	dbSNP_132	152	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	GHRL	NM_001134941.1,NM_001134944.1,NM_001134945.1,NM_001134946.1,NM_016362.3	,,,,	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	,,,,	58/117,47/106,46/105,,59/118	10331494	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	51738				actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|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 circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity	g.chr3:10331494C>T	AF296558	CCDS33700.1, CCDS46747.1, CCDS46748.1, CCDS46749.1, CCDS46750.1	3p26-p25	2013-02-26	2008-07-02		ENSG00000157017	ENSG00000157017		"Endogenous ligands"	18129	protein-coding gene	gene with protein product	"prepro-appetite regulatory hormone"	605353	"ghrelin, growth hormone secretagogue receptor ligand"			10930375, 10604470, 16284174	Standard	NR_024133		Approved	MTLRP, ghrelin, obestatin	uc010hdj.2	Q9UBU3	OTTHUMG00000155360	ENST00000335542.8:c.177G>A	3.37:g.10331494C>T						GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000449554.2_Silent_p.P58P|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000429122.1_Silent_p.P59P|GHRL_ENST00000437422.2_Silent_p.P47P|GHRL_ENST00000287656.7_Silent_p.P58P|GHRL_ENST00000439975.2_Intron|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000430179.1_Silent_p.P58P|GHRL_ENST00000450603.1_Silent_p.P59P|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000457360.1_Silent_p.P59P|GHRL_ENST00000422159.1_Silent_p.P59P|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000449238.2_Silent_p.P46P	p.P59P			Q9UBU3	GHRL_HUMAN			4	1047	-			59					A8CF34|A8CF38|A8CF42|A8DN29|A8DN30|Q86YP8|Q8TAT9|Q9H3R3	Silent	SNP	ENST00000335542.8	37	c.177G>A	CCDS33700.1																																																																																				0.587	GHRL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000339625.1	NM_016362		5	130	0	0	0	1	0	5	130					T	10331494	C	T	10331494	2	4	461	1	0	0	0	0	0	0	0	1	6374	639	23	2		2	GHRL	3	10331494	Silent	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08		10331494	187690936	7	31295											
GALNTL2	117248	broad.mit.edu	37	chr3	16237352	16237352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcctggtccactctcctgCggactgtacacagcatcctc	7	9	9	16	1	1	0	0	0	1	0	5	1	3	1	4	3	3	2	4	3	1	1			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr3:16237352C>T	ENST00000339732.5	+	2	1128	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	GALNT15_ENST00000437509.1_Missense_Mutation_p.R209W	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	209	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CACTCTCCTGCGGACTGTACA	0.607																																						ENST00000339732.5																			0											c.(625-627)Cgg>Tgg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							103	77	86					3																	16237352		2203	4300	6503	SO:0001583	missense	117248							g.chr3:16237352C>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.625C>T	3.37:g.16237352C>T	ENSP00000344260:p.Arg209Trp					GALNT15_ENST00000437509.1_Missense_Mutation_p.R209W	p.R209W	NM_054110.4	NP_473451.3					2	1128	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.625C>T	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	c	19.06	3.753121	0.69648	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.63913	-0.07;-0.07	4.88	3.72	0.42706	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.86024	0.5834	H	0.98682	4.3	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.88998	0.3419	10	0.87932	D	0	.	11.9178	0.52776	0.8539:0.1461:0.0:0.0	.	209	Q8N3T1	GLTL2_HUMAN	W	209	ENSP00000344260:R209W;ENSP00000395873:R209W	ENSP00000344260:R209W	R	+	1	2	GALNTL2	16212356	1.000000	0.71417	0.995000	0.50966	0.944000	0.59088	1.566000	0.36396	0.715000	0.32103	-0.387000	0.06579	CGG		0.607	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		3	42	0	0	0	1	0	3	42					T	16237352	C	T	16237352	3	4	461	1	0	0	0	0	1	0	0	0	6222	759	27	1	631	1	GALNTL2	3	16237352	Missense_Mutation	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08	5905858	16237352	181785078	8	31296											
SHOX2	6474	broad.mit.edu	37	chr3	157820524	157820524	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcctctcgcatgaaggcGtcgggatagtgggtctcgtc	6	11	14	10	4	2	1	0	1	2	0	7	2	3	2	1	3	0	2	1	3	2	2			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr3:157820524G>A	ENST00000425436.3	-	2	523	c.498C>T	c.(496-498)gaC>gaT	p.D166D	SHOX2_ENST00000389589.4_Silent_p.D190D|SHOX2_ENST00000483851.2_Silent_p.D166D|SHOX2_ENST00000490689.2_Silent_p.D37D|SHOX2_ENST00000441443.2_Silent_p.D37D|SHOX2_ENST00000554685.1_5'UTR	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	166					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCATGAAGGCGTCGGGATAGT	0.592																																						ENST00000490689.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20						c.(109-111)gaC>gaT		short stature homeobox 2							131	111	117					3																	157820524		2203	4300	6503	SO:0001819	synonymous_variant	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157820524G>A	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"Homeoboxes / PRD class"	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.498C>T	3.37:g.157820524G>A						SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000425436.3_Silent_p.D166D|SHOX2_ENST00000483851.2_Silent_p.D166D|SHOX2_ENST00000441443.2_Silent_p.D37D|SHOX2_ENST00000389589.4_Silent_p.D190D	p.D37D			O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		2	1644	-			166					O60465|O60467|O60903	Silent	SNP	ENST00000425436.3	37	c.111C>T	CCDS43164.1	.	.	.	.	.	.	.	.	.	.	G	9.842	1.191252	0.21954	.	.	ENSG00000168779	ENST00000555977	.	.	.	5.49	-0.868	0.10652	.	.	.	.	.	T	0.57036	0.2026	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52102	-0.8620	4	.	.	.	.	10.2376	0.43292	0.4989:0.0:0.5011:0.0	.	.	.	.	C	70	.	.	R	-	1	0	SHOX2	159303218	1.000000	0.71417	0.989000	0.46669	0.960000	0.62799	0.615000	0.24329	-0.212000	0.10109	-0.345000	0.07892	CGC		0.592	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			6	65	0	0	0	1	0	6	65					A	157820524	G	A	157820524	2	1	461	1	0	0	0	0	0	0	0	1	14289	1136	40	1		1	SHOX2	3	157820524	Silent	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08	141583172	157820524	40201906	9	31297											
SI	6476	broad.mit.edu	37	chr3	164714349	164714349	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttgcaatgttgtgattccTtgagtatggataaaatgctc	11	16	9	5	0	0	2	0	2	0	0	2	3	1	3	1	1	2	4	1	1	4	6			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr3:164714349T>C	ENST00000264382.3	-	40	4728	c.4666A>G	c.(4666-4668)Agg>Ggg	p.R1556G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1556	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTGTGATTCCTTGAGTATGGA	0.353										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4666-4668)Agg>Ggg		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						86	84	85					3																	164714349		2202	4297	6499	SO:0001583	missense	6476				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	g.chr3:164714349T>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4666A>G	3.37:g.164714349T>C	ENSP00000264382:p.Arg1556Gly	HNSCC(35;0.089)					p.R1556G	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			40	4728	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1556			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4666A>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.903715	0.52333	.	.	ENSG00000090402	ENST00000264382	D	0.95307	-3.67	4.69	3.49	0.39957	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98175	0.9397	H	0.98487	4.245	0.46954	D	0.999261	D	0.89917	1.0	D	0.97110	1.0	D	0.97869	1.0285	10	0.87932	D	0	.	10.9061	0.47081	0.0:0.0:0.2982:0.7018	.	1556	P14410	SUIS_HUMAN	G	1556	ENSP00000264382:R1556G	ENSP00000264382:R1556G	R	-	1	2	SI	166197043	1.000000	0.71417	0.970000	0.41538	0.769000	0.43574	3.046000	0.49846	0.894000	0.36317	0.477000	0.44152	AGG		0.353	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		54	146	0	0	0	1	0	54	146					C	164714349	T	C	164714349	3	2	461	1	0	0	0	0	1	0	0	0	14297	1608	56	4	853	4	SI	3	164714349	Missense_Mutation	SNP	T	TCGA-YL-A8SJ-01B-11D-A377-08	6893825	164714349	33308081	10	31298											
WDFY3	23001	broad.mit.edu	37	chr4	85656271	85656271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaacatccactgcgaaatCtcctaacaatggatggaaaa	17	8	7	9	1	1	0	0	0	1	0	3	3	2	2	2	2	3	1	2	2	7	2			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr4:85656271C>A	ENST00000295888.4	-	43	7325	c.6918G>T	c.(6916-6918)gaG>gaT	p.E2306D	WDFY3_ENST00000322366.6_Missense_Mutation_p.E2306D	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2306	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			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)		ACTGCGAAATCTCCTAACAAT	0.299																																						ENST00000322366.6																			0				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						c.(6916-6918)gaG>gaT		WD repeat and FYVE domain containing 3							105	101	102					4																	85656271		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85656271C>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.6918G>T	4.37:g.85656271C>A	ENSP00000295888:p.Glu2306Asp					WDFY3_ENST00000295888.4_Missense_Mutation_p.E2306D	p.E2306D			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	43	7325	-		Hepatocellular(203;0.114)	2306					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.6918G>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911740	0.33721	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.63913	-0.07;-0.0	5.5	4.67	0.58626	.	0.047781	0.85682	D	0.000000	T	0.39627	0.1085	N	0.25286	0.73	0.58432	D	0.999999	B	0.33000	0.393	B	0.26770	0.073	T	0.23547	-1.0185	10	0.11182	T	0.66	.	8.3787	0.32457	0.0:0.7595:0.0:0.2405	.	2306	Q8IZQ1	WDFY3_HUMAN	D	2306	ENSP00000318466:E2306D;ENSP00000295888:E2306D	ENSP00000295888:E2306D	E	-	3	2	WDFY3	85875295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.949000	0.29109	1.557000	0.49525	0.655000	0.94253	GAG		0.299	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		18	38	1	0	0.00074312	1	0.000774742	18	38					A	85656271	C	A	85656271	3	1	461	1	0	0	0	0	1	0	0	0	17267	912	32	5	3766	5	WDFY3	4	85656271	Missense_Mutation	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08		85656271	105498005	11	31299											
MCC	4163	broad.mit.edu	37	chr5	112437491	112437491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcatggtggccttagtcCggttcagttcttcctctttg	4	17	9	11	1	4	0	2	0	2	0	6	0	6	0	3	3	0	2	3	3	1	6			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr5:112437491C>T	ENST00000302475.4	-	6	1336	c.773G>A	c.(772-774)cGg>cAg	p.R258Q	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.R448Q|MCC_ENST00000515367.2_Missense_Mutation_p.R195Q	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	258					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			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)		GGCCTTAGTCCGGTTCAGTTC	0.597																																						ENST00000302475.4																			0				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						c.(772-774)cGg>cAg		mutated in colorectal cancers							144	136	139					5																	112437491		2202	4300	6502	SO:0001583	missense	4163				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	g.chr5:112437491C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.773G>A	5.37:g.112437491C>T	ENSP00000305617:p.Arg258Gln					MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.R195Q|MCC_ENST00000408903.3_Missense_Mutation_p.R448Q	p.R258Q	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		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)	6	1336	-		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)	258					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.773G>A	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357808	0.82243	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.40225	1.04;1.04;1.04	5.4	5.4	0.78164	Usher syndrome type-1C protein-binding protein 1, PDZ domain (1);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	N	0.12182	0.205	0.58432	D	0.999997	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.70227	0.968;0.968;0.964;0.968	T	0.38457	-0.9660	10	0.18710	T	0.47	-28.2816	19.5418	0.95277	0.0:1.0:0.0:0.0	.	258;220;448;258	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	Q	258;195;448	ENSP00000305617:R258Q;ENSP00000421615:R195Q;ENSP00000386227:R448Q	ENSP00000305617:R258Q	R	-	2	0	MCC	112465390	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.180000	0.71981	2.684000	0.91462	0.655000	0.94253	CGG		0.597	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		8	69	0	0	0	1	0	8	69					T	112437491	C	T	112437491	3	4	461	1	0	0	0	0	1	0	0	0	9373	652	23	2	1764	2	MCC	5	112437491	Missense_Mutation	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08		112437491	68477769	12	31300											
CDSN	170679	broad.mit.edu	37	chr6	31084297	31084297	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actggctggaatgcaatggcCgaggaagctgccgactggct	9	7	15	10	2	0	0	0	0	0	0	0	4	0	2	2	5	3	4	2	5	3	0			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr6:31084297C>T	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Silent_p.S365S	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						ATGCAATGGCCGAGGAAGCTG	0.642																																						ENST00000376288.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						c.(1093-1095)tcG>tcA		corneodesmosin							17	18	18					6																	31084297		2200	4300	6500	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31084297C>T	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"chromosome 6 open reading frame 16"	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1629C>T	6.37:g.31084297C>T						PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	p.S365S	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN			2	1121	-			365			Ser-rich.		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	37	c.1095G>A	CCDS34390.1																																																																																				0.642	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		8	15	0	0	0	1	0	8	15					T	31084297	C	T	31084297	1	4	461	0	1	0	0	0	0	0	0	0	3179	639	23	2		2	CDSN	6	31084297	Intron	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08		31084297	140030770	13	31301											
GRM1	2911	broad.mit.edu	37	chr6	146755853	146755853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctcccccgtgtccgagtCggtgctctgcacccctccca	4	8	9	20	3	1	0	0	0	1	0	5	1	4	0	6	1	3	3	6	1	0	0			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr6:146755853C>T	ENST00000282753.1	+	8	3741	c.3506C>T	c.(3505-3507)tCg>tTg	p.S1169L	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.S1169L|GRM1_ENST00000507907.1_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1169	Ser-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			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)		GTGTCCGAGTCGGTGCTCTGC	0.627																																						ENST00000361719.2																			0				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						c.(3505-3507)tCg>tTg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						41	43	42					6																	146755853		2201	4299	6500	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755853C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3506C>T	6.37:g.146755853C>T	ENSP00000282753:p.Ser1169Leu					GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.S1169L|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR	p.S1169L	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3976	+		Ovarian(120;0.0387)	1169			Ser-rich.		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.3506C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615640	0.87359	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.90197	-2.63;-2.63	5.63	5.63	0.86233	Metabotropic glutamate receptor, Homer-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90539	0.7035	L	0.49350	1.555	0.80722	D	1	D	0.57257	0.979	P	0.51999	0.687	D	0.90633	0.4568	10	0.56958	D	0.05	.	19.6648	0.95889	0.0:1.0:0.0:0.0	.	1169	Q13255	GRM1_HUMAN	L	1169	ENSP00000354896:S1169L;ENSP00000282753:S1169L	ENSP00000282753:S1169L	S	+	2	0	GRM1	146797546	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.487000	0.81328	2.651000	0.90000	0.655000	0.94253	TCG		0.627	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		16	34	0	0	0	1	0	16	34					T	146755853	C	T	146755853	3	4	461	1	0	0	0	0	1	0	0	0	6796	893	31	2	3601	2	GRM1	6	146755853	Missense_Mutation	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08	115671556	146755853	24359214	14	31302											
SYNE1	23345	broad.mit.edu	37	chr6	152847287	152847287	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgtcttcaaaaagatcGtccaccaccattggaggttt	11	13	7	10	1	3	1	2	0	1	1	5	2	4	2	3	2	0	1	3	2	2	4			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr6:152847287G>A	ENST00000367255.5	-	5	754	c.153C>T	c.(151-153)gaC>gaT	p.D51D	SYNE1_ENST00000466159.2_Silent_p.D51D|SYNE1_ENST00000413186.2_Silent_p.D51D|SYNE1_ENST00000367248.3_Silent_p.D51D|SYNE1_ENST00000341594.5_Silent_p.D51D|SYNE1_ENST00000423061.1_Silent_p.D51D|SYNE1_ENST00000448038.1_Silent_p.D51D|SYNE1_ENST00000367253.4_Silent_p.D51D|SYNE1_ENST00000265368.4_Silent_p.D51D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	51	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			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)		CAAAAAGATCGTCCACCACCA	0.418										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(151-153)gaC>gaT		spectrin repeat containing, nuclear envelope 1							104	93	97					6																	152847287		2203	4300	6503	SO:0001819	synonymous_variant	23345				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	g.chr6:152847287G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.153C>T	6.37:g.152847287G>A		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Silent_p.D51D|SYNE1_ENST00000265368.4_Silent_p.D51D|SYNE1_ENST00000367253.4_Silent_p.D51D|SYNE1_ENST00000423061.1_Silent_p.D51D|SYNE1_ENST00000413186.2_Silent_p.D51D|SYNE1_ENST00000466159.2_Silent_p.D51D|SYNE1_ENST00000341594.5_Silent_p.D51D|SYNE1_ENST00000367248.3_Silent_p.D51D	p.D51D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	5	754	-		Ovarian(120;0.0955)	51			Actin-binding.|CH 1.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.153C>T	CCDS5236.2																																																																																				0.418	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		24	81	0	0	0	1	0	24	81					A	152847287	G	A	152847287	2	1	461	1	0	0	0	0	0	0	0	1	15442	1136	40	1		1	SYNE1	6	152847287	Silent	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08	6091434	152847287	18267780	15	31303											
CLDN20	49861	broad.mit.edu	37	chr6	155597385	155597385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatgctgttgtttatctctGgcatgattttctgcacctcc	6	17	7	11	0	2	1	0	1	2	0	4	1	3	1	2	1	2	5	2	1	2	5			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr6:155597385G>A	ENST00000367165.3	+	2	912	c.532G>A	c.(532-534)Ggc>Agc	p.G178S	TFB1M_ENST00000367166.4_Intron	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN	claudin 20	178					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		GTTTATCTCTGGCATGATTTT	0.438																																						ENST00000367165.3																			0				endometrium(1)|lung(2)	3						c.(532-534)Ggc>Agc		claudin 20							75	69	71					6																	155597385		2203	4300	6503	SO:0001583	missense	49861				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr6:155597385G>A	BC020838	CCDS5249.1	6q25	2008-08-01			ENSG00000171217	ENSG00000171217		"Claudins"	2042	protein-coding gene	gene with protein product						16836752	Standard	NM_001001346		Approved		uc003qql.2	P56880	OTTHUMG00000015882	ENST00000367165.3:c.532G>A	6.37:g.155597385G>A	ENSP00000356133:p.Gly178Ser					TFB1M_ENST00000367166.4_Intron	p.G178S	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)	2	912	+			178						Missense_Mutation	SNP	ENST00000367165.3	37	c.532G>A	CCDS5249.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417706	0.83449	.	.	ENSG00000171217	ENST00000367165	D	0.98684	-5.07	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.99524	0.9830	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98340	1.0538	10	0.87932	D	0	.	19.85	0.96736	0.0:0.0:1.0:0.0	.	178	P56880	CLD20_HUMAN	S	178	ENSP00000356133:G178S	ENSP00000356133:G178S	G	+	1	0	CLDN20	155639077	1.000000	0.71417	0.887000	0.34795	0.322000	0.28314	7.660000	0.83776	2.697000	0.92050	0.563000	0.77884	GGC		0.438	CLDN20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042818.1	NM_001001346		18	58	0	0	0	1	0	18	58					A	155597385	G	A	155597385	3	1	461	1	0	0	0	0	1	0	0	0	3482	1348	47	3	534	3	CLDN20	6	155597385	Missense_Mutation	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08	2750098	155597385	15517682	16	31304											
NPTX2	4885	broad.mit.edu	37	chr7	98257788	98257788	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcaacatatgggaccgCgtccttcgcgcacaagaaat	12	8	9	12	4	1	1	1	0	0	1	3	2	2	2	2	1	1	2	2	1	4	3			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr7:98257788C>T	ENST00000265634.3	+	5	1308	c.1143C>T	c.(1141-1143)cgC>cgT	p.R381R		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	381	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TATGGGACCGCGTCCTTCGCG	0.557																																						ENST00000265634.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1141-1143)cgC>cgT		neuronal pentraxin II							96	75	82					7																	98257788		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98257788C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1143C>T	7.37:g.98257788C>T							p.R381R	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	1308	+	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)		381			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.1143C>T	CCDS5657.1																																																																																				0.557	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		4	8	0	0	0	1	0	4	8					T	98257788	C	T	98257788	2	4	461	1	0	0	0	0	0	0	0	1	10603	755	27	1		1	NPTX2	7	98257788	Silent	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08		98257788	60880875	17	31305											
C9orf43	257169	broad.mit.edu	37	chr9	116187645	116187645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacaggaaacagcagcagcGgcagcagcagcagcagcagc	14	2	13	12	1	0	0	0	0	0	0	0	1	0	1	0	2	11	8	0	2	2	1	rs527300639|rs371732185		TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr9:116187645G>A	ENST00000288462.4	+	10	1333	c.887G>A	c.(886-888)cGg>cAg	p.R296Q	C9orf43_ENST00000374165.1_Missense_Mutation_p.R296Q	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	296	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						cagcagcagcggcagcagcag	0.547																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(886-888)cGg>cAg		chromosome 9 open reading frame 43							62	64	63					9																	116187645		2203	4300	6503	SO:0001583	missense	257169							g.chr9:116187645G>A	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.887G>A	9.37:g.116187645G>A	ENSP00000288462:p.Arg296Gln					C9orf43_ENST00000374165.1_Missense_Mutation_p.R296Q	p.R296Q	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			10	1333	+			296			Gln-rich.			Missense_Mutation	SNP	ENST00000288462.4	37	c.887G>A	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	0.045	-1.269215	0.01421	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.41758	0.99;0.99	2.74	-2.81	0.05805	.	3.844300	0.00357	N	0.000029	T	0.22936	0.0554	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.01281	0.0	T	0.14117	-1.0484	10	0.22109	T	0.4	.	8.4134	0.32657	0.3379:0.0:0.6621:0.0	.	296	Q8TAL5	CI043_HUMAN	Q	296	ENSP00000363280:R296Q;ENSP00000288462:R296Q	ENSP00000288462:R296Q	R	+	2	0	C9orf43	115227466	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-0.501000	0.06398	-0.639000	0.05502	-0.379000	0.06801	CGG		0.547	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		3	59	0	0	0	1	0	3	59					A	116187645	G	A	116187645	3	1	461	1	0	0	0	0	1	0	0	0	2483	1116	39	2	921	2	C9orf43	9	116187645	Missense_Mutation	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08		116187645	25025786	18	31306											
PMPCA	23203	broad.mit.edu	37	chr9	139313550	139313550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattttaatgggcggaaccGtggacacggtaagtgcagtg	10	11	14	6	3	0	0	0	0	0	0	0	2	0	2	1	4	2	2	1	4	4	4			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr9:139313550G>A	ENST00000371717.3	+	11	1264	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	PMPCA_ENST00000399219.3_Missense_Mutation_p.V288M|PMPCA_ENST00000462616.1_3'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	419					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GGGCGGAACCGTGGACACGGT	0.557																																						ENST00000371717.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14						c.(1255-1257)Gtg>Atg		peptidase (mitochondrial processing) alpha							101	100	100					9																	139313550		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139313550G>A	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"inositol polyphosphate-5-phosphatase, 72 kD"	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.1255G>A	9.37:g.139313550G>A	ENSP00000360782:p.Val419Met					PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.V288M	p.V419M	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	11	1264	+		Myeloproliferative disorder(178;0.0821)	419					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.1255G>A	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398706	0.42512	.	.	ENSG00000165688	ENST00000371717;ENST00000399219;ENST00000444897	T;T;T	0.09255	3.0;3.0;3.0	4.91	4.91	0.64330	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.165226	0.53938	D	0.000060	T	0.29652	0.0740	M	0.74881	2.28	0.41765	D	0.989733	D;D;D;D	0.69078	0.973;0.986;0.997;0.986	P;P;D;P	0.66847	0.625;0.833;0.947;0.833	T	0.01739	-1.1284	10	0.66056	D	0.02	.	11.242	0.48974	0.0884:0.0:0.9116:0.0	.	288;419;127;419	B4DKL3;Q5SXM9;Q5SXN9;Q10713	.;.;.;MPPA_HUMAN	M	419;288;127	ENSP00000360782:V419M;ENSP00000416702:V288M;ENSP00000408393:V127M	ENSP00000360782:V419M	V	+	1	0	PMPCA	138433371	1.000000	0.71417	0.862000	0.33874	0.005000	0.04900	4.008000	0.57103	2.428000	0.82296	0.655000	0.94253	GTG		0.557	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		32	47	0	0	0	1	0	32	47					A	139313550	G	A	139313550	3	1	461	1	0	0	0	0	1	0	0	0	12140	1145	40	1	1297	1	PMPCA	9	139313550	Missense_Mutation	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08	23125905	139313550	1899881	19	31307											
NRAP	4892	broad.mit.edu	37	chr10	115364399	115364399	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatgggctttcttggccCaggccatcttcaggtcctcg	4	11	13	13	1	3	0	1	0	2	0	5	0	4	0	3	5	0	2	3	5	0	3			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr10:115364399C>T	ENST00000359988.3	-	35	4440	c.4196G>A	c.(4195-4197)tGg>tAg	p.W1399*	NRAP_ENST00000369358.4_Nonsense_Mutation_p.W1407*|NRAP_ENST00000360478.3_Nonsense_Mutation_p.W1364*|NRAP_ENST00000369360.3_Nonsense_Mutation_p.W1372*	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											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)		TTTCTTGGCCCAGGCCATCTT	0.582																																						ENST00000369358.4																			0				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						c.(4219-4221)tGg>tAg		nebulin-related anchoring protein							90	84	86					10																	115364399		2203	4300	6503	SO:0001587	stop_gained	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115364399C>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4196G>A	10.37:g.115364399C>T	ENSP00000353078:p.Trp1399*					NRAP_ENST00000369360.3_Nonsense_Mutation_p.W1372*|NRAP_ENST00000360478.3_Nonsense_Mutation_p.W1364*|NRAP_ENST00000359988.3_Nonsense_Mutation_p.W1399*	p.W1407*			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	35	4464	-		Colorectal(252;0.0233)|Breast(234;0.188)	1399						Nonsense_Mutation	SNP	ENST00000359988.3	37	c.4220G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	41	8.951241	0.99014	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	.	.	.	5.54	5.54	0.83059	.	0.059875	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.4903	0.95047	0.0:1.0:0.0:0.0	.	.	.	.	X	1407;1372;1399;1364;557	.	ENSP00000353078:W1399X	W	-	2	0	NRAP	115354389	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	4.970000	0.63742	2.622000	0.88805	0.555000	0.69702	TGG		0.582	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		15	20	0	0	0	1	0	15	20					T	115364399	C	T	115364399	4	4	461	1	0	0	0	0	0	1	0	0	10638	595	21	3	1028	3	NRAP	10	115364399	Nonsense_Mutation	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08		115364399	20170348	20	31308											
NKX6-2	84504	broad.mit.edu	37	chr10	134598510	134598510	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagccgcgtgatcttctcGtcgtccgagttggggtccag	5	10	14	12	5	2	1	0	1	2	0	6	2	4	1	3	2	2	2	3	2	0	2			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr10:134598510G>A	ENST00000368592.5	-	3	847	c.744C>T	c.(742-744)gaC>gaT	p.D248D	RP11-288G11.3_ENST00000441365.2_lincRNA	NM_177400.2	NP_796374	Q9C056	NKX62_HUMAN	NK6 homeobox 2	248					central nervous system myelination (GO:0022010)|endocrine pancreas development (GO:0031018)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of glial cell differentiation (GO:0045687)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		TGATCTTCTCGTCGTCCGAGT	0.672																																						ENST00000368592.5																			0				endometrium(1)|lung(2)	3						c.(742-744)gaC>gaT		NK6 homeobox 2							95	71	79					10																	134598510		2199	4299	6498	SO:0001819	synonymous_variant	84504					nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:134598510G>A	AF184215	CCDS7670.1	10q26.3	2012-03-09	2007-07-09		ENSG00000148826	ENSG00000148826		"Homeoboxes / ANTP class : NKL subclass"	19321	protein-coding gene	gene with protein product		605955	"NK6 transcription factor related, locus 2 (Drosophila)"			11210186	Standard	NM_177400		Approved	NKX6B, GTX, NKX6.1	uc001llr.2	Q9C056	OTTHUMG00000019294	ENST00000368592.5:c.744C>T	10.37:g.134598510G>A							p.D248D	NM_177400.2	NP_796374.1	Q9C056	NKX62_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)	3	847	-		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)	248					Q5JSF3	Silent	SNP	ENST00000368592.5	37	c.744C>T	CCDS7670.1																																																																																				0.672	NKX6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051093.2			3	24	0	0	0	1	0	3	24					A	134598510	G	A	134598510	2	1	461	1	0	0	0	0	0	0	0	1	10458	1136	40	1		1	NKX6-2	10	134598510	Silent	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08	19234111	134598510	936237	21	31309											
ODZ4	26011	broad.mit.edu	37	chr11	78380123	78380123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccagcgtccggccagcaCatcataatctcgccggccca	9	6	9	17	4	2	0	1	0	1	0	5	0	4	0	5	2	2	1	5	2	1	1			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr11:78380123C>A	ENST00000278550.7	-	32	7729	c.7267G>T	c.(7267-7269)Gtg>Ttg	p.V2423L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2423					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CCGGCCAGCACATCATAATCT	0.498																																						ENST00000278550.7																			0											c.(7267-7269)Gtg>Ttg		teneurin transmembrane protein 4							80	81	80					11																	78380123		2047	4176	6223	SO:0001583	missense	26011							g.chr11:78380123C>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7267G>T	11.37:g.78380123C>A	ENSP00000278550:p.Val2423Leu						p.V2423L	NM_001098816.2	NP_001092286.2					32	7729	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7267G>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060133	0.76074	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89617	-2.54;0.95	5.67	4.75	0.60458	Rhs repeat-associated core (1);	0.000000	0.85682	D	0.000000	D	0.92835	0.7721	M	0.65498	2.005	0.58432	D	0.999997	D	0.64830	0.994	D	0.70716	0.97	D	0.92020	0.5625	9	.	.	.	.	14.0324	0.64624	0.0:0.9283:0.0:0.0717	.	2423	Q6N022	TEN4_HUMAN	L	2423;887	ENSP00000278550:V2423L;ENSP00000431711:V887L	.	V	-	1	0	ODZ4	78057771	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.073000	0.57570	2.677000	0.91161	0.655000	0.94253	GTG		0.498	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			8	19	1	0	3.09899e-07	1	3.37445e-07	8	19					A	78380123	C	A	78380123	3	1	461	1	0	0	0	0	1	0	0	0	10837	478	17	5	1054	5	ODZ4	11	78380123	Missense_Mutation	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08		78380123	56626393	22	31310											
CADM1	23705	broad.mit.edu	37	chr11	115109289	115109289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcaaaagtatcttccttCatcagaaattgagacgtttg	12	13	8	8	1	3	2	2	1	1	2	4	3	4	2	1	1	0	3	1	1	4	5			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr11:115109289C>T	ENST00000452722.3	-	3	375	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000542447.2_Missense_Mutation_p.E119K|CADM1_ENST00000331581.6_Missense_Mutation_p.E119K|CADM1_ENST00000536727.1_Missense_Mutation_p.E119K|CADM1_ENST00000537058.1_Missense_Mutation_p.E119K	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TATCTTCCTTCATCAGAAATT	0.448																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(355-357)Gaa>Aaa		cell adhesion molecule 1							128	122	124					11																	115109289		2201	4296	6497	SO:0001583	missense	23705				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	g.chr11:115109289C>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5951	protein-coding gene	gene with protein product	"nectin-like 2"	605686	"tumor suppressor in lung cancer 1", "immunoglobulin superfamily, member 4"	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.355G>A	11.37:g.115109289C>T	ENSP00000395359:p.Glu119Lys					CADM1_ENST00000452722.2_Missense_Mutation_p.E119K|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Missense_Mutation_p.E119K|CADM1_ENST00000536727.1_Missense_Mutation_p.E119K|CADM1_ENST00000331581.6_Missense_Mutation_p.E119K	p.E119K	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	3	483	-	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)	119			Ig-like V-type.			Missense_Mutation	SNP	ENST00000452722.3	37	c.355G>A	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.059381|5.059381	0.93846|0.93846	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000545094|ENST00000543249	T;T;T;T;T;T|.	0.67171|.	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.046598|.	0.85682|.	D|.	0.000000|.	T|T	0.78451|0.78451	0.4285|0.4285	M|M	0.78916|0.78916	2.43|2.43	0.80722|0.80722	D|D	1|1	P;D;D;D;D|.	0.76494|.	0.925;0.998;0.996;0.999;0.997|.	P;D;D;D;D|.	0.85130|.	0.616;0.942;0.926;0.997;0.989|.	T|T	0.77892|0.77892	-0.2418|-0.2418	10|5	0.39692|.	T|.	0.17|.	.|.	19.3366|19.3366	0.94322|0.94322	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	119;119;120;119;119|.	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1|.	.;.;.;CADM1_HUMAN;.|.	K|I	119;119;119;119;78;119;86|102	ENSP00000439176:E119K;ENSP00000395359:E119K;ENSP00000439817:E119K;ENSP00000440322:E119K;ENSP00000329797:E119K;ENSP00000439696:E86K|.	ENSP00000329797:E119K|.	E|M	-|-	1|3	0|0	CADM1|CADM1	114614499|114614499	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.289000|7.289000	0.78701|0.78701	2.799000|2.799000	0.96334|0.96334	0.650000|0.650000	0.86243|0.86243	GAA|ATG		0.448	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		14	80	0	0	0	1	0	14	80					T	115109289	C	T	115109289	3	4	461	1	0	0	0	0	1	0	0	0	2566	835	29	3	1005	3	CADM1	11	115109289	Missense_Mutation	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08	36729166	115109289	19897227	23	31311											
ITPR2	3709	broad.mit.edu	37	chr12	26596569	26596569	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcatctgctgcaacagtttAttgtggcgggccaactagag	10	10	12	9	1	1	1	0	0	1	1	1	1	1	1	1	2	5	4	1	2	4	4			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr12:26596569A>C	ENST00000381340.3	-	46	6773	c.6357T>G	c.(6355-6357)aaT>aaG	p.N2119K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2119					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		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)				Caffeine(DB00201)	GCAACAGTTTATTGTGGCGGG	0.423																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				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						c.(6355-6357)aaT>aaG		inositol 1,4,5-trisphosphate receptor, type 2							135	127	129					12																	26596569		1885	4118	6003	SO:0001583	missense	3709				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	g.chr12:26596569A>C	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6357T>G	12.37:g.26596569A>C	ENSP00000370744:p.Asn2119Lys						p.N2119K	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			46	6773	-	Colorectal(261;0.0847)		2119					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.6357T>G	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.323202	0.60634	.	.	ENSG00000123104	ENST00000381340	D	0.93307	-3.2	4.87	-3.24	0.05094	.	0.050146	0.85682	D	0.000000	D	0.94729	0.8299	M	0.89904	3.07	0.80722	D	1	P	0.45474	0.859	P	0.48770	0.589	D	0.93809	0.7108	10	0.87932	D	0	.	14.7015	0.69160	0.2693:0.0:0.7307:0.0	.	2119	Q14571	ITPR2_HUMAN	K	2119	ENSP00000370744:N2119K	ENSP00000370744:N2119K	N	-	3	2	ITPR2	26487836	0.989000	0.36119	0.747000	0.31113	0.743000	0.42351	0.344000	0.19962	-0.620000	0.05641	-0.408000	0.06270	AAT		0.423	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		13	24	0	0	0	1	0	13	24					C	26596569	A	C	26596569	3	2	461	1	0	0	0	0	1	0	0	0	7921	446	16	5	1796	5	ITPR2	12	26596569	Missense_Mutation	SNP	A	TCGA-YL-A8SJ-01B-11D-A377-08		26596569	107255326	24	31312											
C12orf42	374470	broad.mit.edu	37	chr12	103700092	103700092	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaagtagtcttttacaCgccattgaattttgagtcct	10	16	8	7	1	1	3	0	3	1	0	2	3	2	3	2	0	1	2	2	0	5	7			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr12:103700092C>T	ENST00000378113.2	-	5	516	c.291G>A	c.(289-291)gcG>gcA	p.A97A	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Silent_p.A97A|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Silent_p.A30A	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	97								p.A97A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GTCTTTTACACGCCATTGAAT	0.378																																						ENST00000548048.1																			1	Substitution - coding silent(1)	p.A97A(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(88-90)gcG>gcA		chromosome 12 open reading frame 42							48	48	48					12																	103700092		1828	4092	5920	SO:0001819	synonymous_variant	374470							g.chr12:103700092C>T	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.291G>A	12.37:g.103700092C>T						C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Silent_p.A97A|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Silent_p.A97A	p.A30A			Q96LP6	CL042_HUMAN			8	586	-			97					Q49A64|Q4G0S2	Silent	SNP	ENST00000378113.2	37	c.90G>A	CCDS44963.1																																																																																				0.378	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		3	17	0	0	0	1	0	3	17					T	103700092	C	T	103700092	2	4	461	1	0	0	0	0	0	0	0	1	1688	523	19	1		1	C12orf42	12	103700092	Silent	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08	77103523	103700092	30151803	25	31313											
SLC15A1	6564	broad.mit.edu	37	chr13	99362008	99362008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttctacctgcatctgatcGggctgaatttcaagagctcc	8	13	8	12	1	4	3	1	2	3	1	6	3	5	3	2	1	3	3	2	1	3	3	rs141847035		TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr13:99362008G>A	ENST00000376503.5	-	13	1021	c.966C>T	c.(964-966)ccC>ccT	p.P322P		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	322					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			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)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GCATCTGATCGGGCTGAATTT	0.423													G|||	1	0.000199681	8e-04	0	5008	,	,		21561	0		0	False		,,,				2504	0					ENST00000376503.5																			0				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						c.(964-966)ccC>ccT		solute carrier family 15 (oligopeptide transporter), member 1	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	G		3,4403	6.2+/-15.9	0,3,2200	109	103	105		966	-10	0.5	13	dbSNP_134	105	0,8600		0,0,4300	no	coding-synonymous	SLC15A1	NM_005073.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		322/709	99362008	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99362008G>A	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.966C>T	13.37:g.99362008G>A							p.P322P	NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN			13	1021	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		322					Q5VW82	Silent	SNP	ENST00000376503.5	37	c.966C>T	CCDS9489.1																																																																																				0.423	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		15	38	0	0	0	1	0	15	38					A	99362008	G	A	99362008	2	1	461	1	0	0	0	0	0	0	0	1	14398	1103	39	2		2	SLC15A1	13	99362008	Silent	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08		99362008	15807870	26	31314											
FRMD5	84978	broad.mit.edu	37	chr15	44166604	44166604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggcaggaaggtgtcccCatgggaagtggaacgcactg	10	6	17	8	1	0	1	0	1	0	0	1	4	1	4	2	5	1	2	2	5	3	0	rs372366104		TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr15:44166604C>T	ENST00000417257.1	-	14	1368	c.1192G>A	c.(1192-1194)Ggg>Agg	p.G398R	FRMD5_ENST00000402883.1_Missense_Mutation_p.G398R|FRMD5_ENST00000484674.1_Missense_Mutation_p.G304R	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	398						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		AAGGTGTCCCCATGGGAAGTG	0.562																																						ENST00000417257.1																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1192-1194)Ggg>Agg		FERM domain containing 5							71	66	68					15																	44166604		2198	4298	6496	SO:0001583	missense	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44166604C>T	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.1192G>A	15.37:g.44166604C>T	ENSP00000403067:p.Gly398Arg					FRMD5_ENST00000484674.1_Missense_Mutation_p.G304R|FRMD5_ENST00000402883.1_Missense_Mutation_p.G398R	p.G398R	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	14	1368	-		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)	398					Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	37	c.1192G>A	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216213	0.39201	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.84944	-1.71;-1.85;-1.92	5.87	4.78	0.61160	.	0.238047	0.42821	D	0.000656	T	0.77698	0.4169	L	0.44542	1.39	0.41871	D	0.990278	B;B;B;B	0.33919	0.432;0.148;0.407;0.27	B;B;B;B	0.33521	0.165;0.08;0.088;0.143	T	0.72253	-0.4347	10	0.17369	T	0.5	.	10.9522	0.47336	0.0:0.8426:0.0:0.1574	.	383;398;398;71	Q7Z6J6-2;Q7Z6J6;B5MC67;A8K1U8	.;FRMD5_HUMAN;.;.	R	398;398;364	ENSP00000403067:G398R;ENSP00000384142:G398R;ENSP00000399684:G364R	ENSP00000384142:G398R	G	-	1	0	FRMD5	41953896	0.993000	0.37304	0.998000	0.56505	0.996000	0.88848	2.997000	0.49457	2.780000	0.95670	0.655000	0.94253	GGG		0.562	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		10	38	0	0	0	1	0	10	38					T	44166604	C	T	44166604	3	4	461	1	0	0	0	0	1	0	0	0	6053	594	21	3	524	3	FRMD5	15	44166604	Missense_Mutation	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08		44166604	58364788	27	31315											
SRCAP	10847	broad.mit.edu	37	chr16	30732587	30732587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtccctaaagccaacaccaCctgccccagttcgcctgagc	9	7	7	18	1	0	1	0	1	0	0	2	1	1	1	7	0	4	1	7	0	3	2			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr16:30732587C>T	ENST00000262518.4	+	21	3716	c.3331C>T	c.(3331-3333)Cct>Tct	p.P1111S	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1111S|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1111	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			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)			GCCAACACCACCTGCCCCAGT	0.632																																						ENST00000262518.4																			0				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						c.(3331-3333)Cct>Tct		Snf2-related CREBBP activator protein							115	122	120					16																	30732587		2197	4300	6497	SO:0001583	missense	10847				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	g.chr16:30732587C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3331C>T	16.37:g.30732587C>T	ENSP00000262518:p.Pro1111Ser					SRCAP_ENST00000395059.2_Missense_Mutation_p.P1111S|SRCAP_ENST00000344771.4_Intron	p.P1111S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		21	3716	+			1111			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.3331C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027531	0.35797	.	.	ENSG00000080603	ENST00000262518;ENST00000395059	D;D	0.91740	-2.9;-2.74	5.36	5.36	0.76844	.	.	.	.	.	D	0.86514	0.5951	N	0.14661	0.345	0.80722	D	1	P;P	0.45715	0.865;0.787	B;B	0.43478	0.421;0.241	D	0.86680	0.1916	9	0.37606	T	0.19	-9.5073	16.1243	0.81382	0.0:1.0:0.0:0.0	.	1111;1111	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	1111	ENSP00000262518:P1111S;ENSP00000378499:P1111S	ENSP00000262518:P1111S	P	+	1	0	SRCAP	30640088	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.886000	0.63149	2.788000	0.95919	0.557000	0.71058	CCT		0.632	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		22	54	0	0	0	1	0	22	54					T	30732587	C	T	30732587	3	4	461	1	0	0	0	0	1	0	0	0	15134	507	18	3	3405	3	SRCAP	16	30732587	Missense_Mutation	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08		30732587	59622166	28	31316											
TP53	7157	broad.mit.edu	37	chr17	7578435	7578436	+	Frame_Shift_Ins	INS	-	-	AGCA																															cctccgtcatgtgctgtgacINStgcttgtagatggccatggc																										TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr17:7578435_7578436insAGCA	ENST00000269305.4	-	5	683_684	c.494_495insTGCT	c.(493-495)cagfs	p.Q165fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Q165fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	165	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Q165L(3)|p.Q165R(2)|p.S166fs*15(2)|p.Q165P(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q165fs*4(1)|p.Q165del(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.K164fs*5(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q165H(1)|p.Q165fs*16(1)|p.Q165_S166insXXX(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)	Acetylsalicylic acid(DB00945)	TGTGCTGTGACTGCTTGTAGAT	0.629		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		33	Whole gene deletion(8)|Substitution - Missense(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(3)|Insertion - In frame(1)	p.0?(8)|p.Q165L(3)|p.Q165R(2)|p.S166fs*15(2)|p.Q165P(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q165fs*4(1)|p.Q165del(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.K164fs*5(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q165H(1)|p.Q165fs*16(1)|p.Q165_S166insXXX(1)	haematopoietic_and_lymphoid_tissue(5)|stomach(4)|breast(4)|oesophagus(4)|bone(4)|central_nervous_system(3)|lung(3)|upper_aerodigestive_tract(1)|cervix(1)|large_intestine(1)|soft_tissue(1)|salivary_gland(1)|ovary(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						c.(493-495)ctcfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578435_7578436insAGCA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.494_495insTGCT	17.37:g.7578435_7578436insAGCA	ENSP00000269305:p.Gln165fs	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)				TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Frame_Shift_Ins_p.L165fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.L165fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.L165fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.L165fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.L165fs	p.L165fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	626_627	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	165		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.494_495insTGCT	CCDS11118.1																																																																																				0.629	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	46						16	46	---	---	---	---	AGCA	7578436	-	AGCA	7578435	7	5	461	1	0	1	1	0	0	0	0	0	16378	564	20	0	803	0	TP53	17	7578435	Frame_Shift_Ins	INS	-	TCGA-YL-A8SJ-01B-11D-A377-08		7578435	73616775	29	31317											
ALOX12B	242	broad.mit.edu	37	chr17	7983166	7983166	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacggggaacttgtctgggAtccgcgtgcagcggcggatc	6	8	17	10	5	1	1	0	1	1	0	3	4	2	4	1	5	3	1	1	5	1	1			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr17:7983166A>T	ENST00000319144.4	-	7	1108	c.848T>A	c.(847-849)aTc>aAc	p.I283N	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	283	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CTTGTCTGGGATCCGCGTGCA	0.657										Multiple Myeloma(8;0.094)																												ENST00000319144.4																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(847-849)aTc>aAc		arachidonate 12-lipoxygenase, 12R type							36	35	35					17																	7983166		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7983166A>T	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.848T>A	17.37:g.7983166A>T	ENSP00000315167:p.Ile283Asn	Multiple Myeloma(8;0.094)				AC129492.6_ENST00000399413.3_5'UTR	p.I283N	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN			7	1108	-			283			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.848T>A	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857536	0.91433	.	.	ENSG00000179477	ENST00000319144	T	0.77098	-1.07	4.25	4.25	0.50352	Lipoxygenase, C-terminal (3);	0.364262	0.28653	N	0.014589	D	0.85613	0.5737	M	0.70595	2.14	0.43863	D	0.996464	P	0.52842	0.956	D	0.65573	0.936	D	0.87273	0.2287	10	0.87932	D	0	-13.6646	12.7906	0.57530	1.0:0.0:0.0:0.0	.	283	O75342	LX12B_HUMAN	N	283	ENSP00000315167:I283N	ENSP00000315167:I283N	I	-	2	0	ALOX12B	7923891	0.998000	0.40836	0.917000	0.36280	0.994000	0.84299	8.879000	0.92398	1.931000	0.55961	0.454000	0.30748	ATC		0.657	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			5	11	0	0	0	1	0	5	11					T	7983166	A	T	7983166	3	4	461	1	0	0	0	0	1	0	0	0	537	333	12	5	1293	5	ALOX12B	17	7983166	Missense_Mutation	SNP	A	TCGA-YL-A8SJ-01B-11D-A377-08	404731	7983166	73212044	30	31318											
SMCR8	140775	broad.mit.edu	37	chr17	18219934	18219934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggagcacatccaggatcaGgccagccaggcatccactac	12	5	10	14	0	1	0	1	0	0	0	3	2	3	2	4	4	3	2	4	4	1	1			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr17:18219934G>A	ENST00000406438.3	+	1	1311	c.831G>A	c.(829-831)caG>caA	p.Q277Q	TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	277						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCCAGGATCAGGCCAGCCAGG	0.512																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(829-831)caG>caA		Smith-Magenis syndrome chromosome region, candidate 8							77	63	68					17																	18219934		2203	4300	6503	SO:0001819	synonymous_variant	140775							g.chr17:18219934G>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.831G>A	17.37:g.18219934G>A							p.Q277Q	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	1311	+			277					A5PKZ5|Q3ZCN0|Q6PJL3	Silent	SNP	ENST00000406438.3	37	c.831G>A	CCDS11195.2																																																																																				0.512	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		7	27	0	0	0	1	0	7	27					A	18219934	G	A	18219934	2	1	461	1	0	0	0	0	0	0	0	1	14792	991	35	3		3	SMCR8	17	18219934	Silent	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08	10236768	18219934	62975276	31	31319											
UNK	85451	broad.mit.edu	37	chr17	73809210	73809210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccttgcaagaagccccCgcggctgtgccgccaaggct	7	5	14	15	3	0	1	0	0	0	1	0	2	0	2	5	3	4	3	5	3	3	1			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr17:73809210C>T	ENST00000589666.1	+	5	784	c.674C>T	c.(673-675)cCg>cTg	p.P225L	UNK_ENST00000293218.3_Missense_Mutation_p.P301L	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	225							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P225L(1)		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)			AAGAAGCCCCCGCGGCTGTGC	0.632																																						ENST00000293218.3																			1	Substitution - Missense(1)	p.P225L(1)	large_intestine(1)	cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(901-903)cCg>cTg		unkempt family zinc finger							21	26	24					17																	73809210		1884	4103	5987	SO:0001583	missense	85451						nucleic acid binding|zinc ion binding	g.chr17:73809210C>T	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.674C>T	17.37:g.73809210C>T	ENSP00000464893:p.Pro225Leu					UNK_ENST00000589666.1_Missense_Mutation_p.P225L	p.P301L			Q9C0B0	UNK_HUMAN	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)		6	902	+			225						Missense_Mutation	SNP	ENST00000589666.1	37	c.902C>T	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	C	33	5.230069	0.95207	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.84	4.84	0.62591	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.80347	0.4606	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80979	-0.1140	9	0.44086	T	0.13	-15.673	18.1613	0.89708	0.0:1.0:0.0:0.0	.	225	Q9C0B0	UNK_HUMAN	L	301	.	ENSP00000293218:P301L	P	+	2	0	UNK	71320805	1.000000	0.71417	0.994000	0.49952	1.000000	0.99986	7.520000	0.81821	2.523000	0.85059	0.655000	0.94253	CCG		0.632	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		3	5	0	0	0	1	0	3	5					T	73809210	C	T	73809210	3	4	461	1	0	0	0	0	1	0	0	0	16997	652	23	2	924	2	UNK	17	73809210	Missense_Mutation	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08	55589276	73809210	7386000	32	31320											
DNAH17	8632	broad.mit.edu	37	chr17	76457691	76457691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctctttgctgaccttctCggcctcgatgccgaccacct	4	13	7	17	3	2	1	0	1	2	0	5	3	2	1	5	1	2	1	5	1	0	3			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr17:76457691C>T	ENST00000585328.1	-	58	9383	c.9259G>A	c.(9259-9261)Gag>Aag	p.E3087K	DNAH17_ENST00000389840.5_Missense_Mutation_p.E3078K|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3078	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)			CTGACCTTCTCGGCCTCGATG	0.542																																						ENST00000389840.5																			0				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						c.(9232-9234)Gag>Aag		dynein, axonemal, heavy chain 17																																				SO:0001583	missense	8632							g.chr17:76457691C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9259G>A	17.37:g.76457691C>T	ENSP00000465516:p.Glu3087Lys					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E3087K	p.E3078K					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		58	9356	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.9232G>A		.	.	.	.	.	.	.	.	.	.	C	17.47	3.398430	0.62177	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.77489	-1.1	4.35	4.35	0.52113	.	0.788560	0.09927	U	0.737642	T	0.79598	0.4473	L	0.56124	1.755	0.44711	D	0.997705	P	0.46277	0.875	P	0.45428	0.48	T	0.79227	-0.1890	10	0.62326	D	0.03	.	16.4756	0.84131	0.0:1.0:0.0:0.0	.	3087	E7EUM8	.	K	3087;3078	ENSP00000374490:E3078K	ENSP00000300671:E3087K	E	-	1	0	DNAH17	73969286	1.000000	0.71417	0.958000	0.39756	0.354000	0.29330	4.528000	0.60580	1.960000	0.56953	0.563000	0.77884	GAG		0.542	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		8	15	0	0	0	1	0	8	15					T	76457691	C	T	76457691	3	4	461	1	0	0	0	0	1	0	0	0	4601	893	31	2	4210	2	DNAH17	17	76457691	Missense_Mutation	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08	2648481	76457691	4737519	33	31321											
TCEB3C	162699	broad.mit.edu	37	chr18	44554578	44554578	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaagtcctgagtttatcGtcgggagaatcttcccttgt	8	13	11	9	2	1	2	0	1	1	1	5	3	3	2	2	2	0	2	2	2	3	4	rs367618346		TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr18:44554578G>A	ENST00000330682.2	-	1	1871	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TGAGTTTATCGTCGGGAGAAT	0.567																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(1636-1638)Cga>Tga		transcription elongation factor B polypeptide 3C (elongin A3)		G	,stop/ARG	0,3634		0,0,1817	189	184	186		,1636	-2.2	0	18		186	1,6991		0,1,3495	no	intron,stop-gained	KATNAL2,TCEB3C	NM_031303.2,NM_145653.3	,	0,1,5312	AA,AG,GG		0.0143,0.0,0.0094	,	,546/547	44554578	1,10625	1817	3496	5313	SO:0001587	stop_gained	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44554578G>A	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"elongin A3"					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1636C>T	18.37:g.44554578G>A	ENSP00000328232:p.Arg546*					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	p.R546*	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN			1	1871	-			546						Nonsense_Mutation	SNP	ENST00000330682.2	37	c.1636C>T	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	g	15.16	2.752208	0.49362	0.0	1.43E-4	ENSG00000183791	ENST00000330682	.	.	.	1.35	-2.15	0.07102	.	0.411091	0.17258	U	0.180893	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.243	0.04024	0.2244:0.0:0.3637:0.4119	.	.	.	.	X	546	.	ENSP00000328232:R546X	R	-	1	2	TCEB3C	42808576	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	-1.800000	0.01744	-0.597000	0.05813	-0.350000	0.07774	CGA		0.567	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		11	1121	0	0	0	1	0	11	1121					A	44554578	G	A	44554578	4	1	461	1	0	0	0	0	0	1	0	0	15680	1153	40	1	1651	1	TCEB3C	18	44554578	Nonsense_Mutation	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08		44554578	33522670	34	31322											
KIAA1468	57614	broad.mit.edu	37	chr18	59894681	59894681	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagaggcccttacaccaattAtaagcaaccttcctccaact	13	10	4	14	0	0	1	0	0	0	1	2	1	2	1	5	1	4	1	5	1	7	5	rs369238556		TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr18:59894681A>G	ENST00000398130.2	+	6	1250	c.1018A>G	c.(1018-1020)Ata>Gta	p.I340V	KIAA1468_ENST00000256858.6_Missense_Mutation_p.I340V	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	340										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)				TACACCAATTATAAGCAACCT	0.403													A|||	1	0.000199681	8e-04	0	5008	,	,		14909	0		0	False		,,,				2504	0					ENST00000256858.6																			0				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						c.(1018-1020)Ata>Gta		KIAA1468		A	VAL/ILE	1,4143		0,1,2071	106	110	109		1018	-1.4	0.8	18		109	1,8453		0,1,4226	no	missense	KIAA1468	NM_020854.3	29	0,2,6297	GG,GA,AA		0.0118,0.0241,0.0159	benign	340/1217	59894681	2,12596	2072	4227	6299	SO:0001583	missense	57614						binding	g.chr18:59894681A>G	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1018A>G	18.37:g.59894681A>G	ENSP00000381198:p.Ile340Val					KIAA1468_ENST00000398130.2_Missense_Mutation_p.I340V	p.I340V			Q9P260	K1468_HUMAN			6	1266	+		Colorectal(73;0.186)	340						Missense_Mutation	SNP	ENST00000398130.2	37	c.1018A>G	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	A	0.234	-1.018771	0.02078	2.41E-4	1.18E-4	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.35	-1.38	0.09027	.	0.688458	0.13242	N	0.402796	T	0.11410	0.0278	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.14023	0.001;0.01	T	0.23655	-1.0182	8	.	.	.	-0.0028	1.5889	0.02650	0.1434:0.3321:0.1361:0.3884	.	340;340	Q9P260-2;Q9P260	.;K1468_HUMAN	V	340	.	.	I	+	1	0	KIAA1468	58045661	0.013000	0.17824	0.833000	0.33012	0.815000	0.46073	0.126000	0.15769	-0.221000	0.09973	-0.646000	0.03943	ATA		0.403	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		10	77	0	0	0	1	0	10	77					G	59894681	A	G	59894681	3	3	461	1	0	0	0	0	1	0	0	0	8236	449	16	4	1040	4	KIAA1468	18	59894681	Missense_Mutation	SNP	A	TCGA-YL-A8SJ-01B-11D-A377-08	15340103	59894681	18182567	35	31323											
ZNF571	51276	broad.mit.edu	37	chr19	38056651	38056651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataaaagctttcccacatgCgttacactgataaggttttt	13	14	6	8	1	0	1	0	1	0	0	1	1	1	1	1	1	3	3	1	1	5	6	rs115491718	byFrequency	TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr19:38056651C>T	ENST00000328550.2	-	4	778	c.679G>A	c.(679-681)Gca>Aca	p.A227T	ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.A227T|ZNF571_ENST00000451802.2_Missense_Mutation_p.A227T|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.A227T|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A227T(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCCACATGCGTTACACTGA	0.383													C|||	5	0.000998403	0.003	0	5008	,	,		20874	0		0	False		,,,				2504	0.001					ENST00000328550.2																			1	Substitution - Missense(1)	p.A227T(1)	large_intestine(1)	breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(679-681)Gca>Aca		zinc finger protein 571		C	THR/ALA	11,4395	16.8+/-37.8	0,11,2192	84	80	82		679	1.4	0	19	dbSNP_132	82	0,8598		0,0,4299	yes	missense	ZNF571	NM_016536.3	58	0,11,6491	TT,TC,CC		0.0,0.2497,0.0846	possibly-damaging	227/610	38056651	11,12993	2203	4299	6502	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056651C>T	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"Zinc fingers, C2H2-type", "-"	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.679G>A	19.37:g.38056651C>T	ENSP00000333660:p.Ala227Thr					ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.A227T|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.A227T|ZNF571_ENST00000358744.3_Missense_Mutation_p.A227T	p.A227T			Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	778	-			227					Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.679G>A	CCDS12505.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	14.26	2.482662	0.44147	0.002497	0.0	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.07567	3.18;3.18;3.18	3.76	1.43	0.22495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03959	0.0111	N	0.02674	-0.535	0.09310	N	1	P	0.48764	0.915	P	0.45998	0.5	T	0.32214	-0.9915	9	0.72032	D	0.01	.	3.8066	0.08780	0.1646:0.5757:0.1608:0.0989	.	227	Q7Z3V5	ZN571_HUMAN	T	227	ENSP00000333660:A227T;ENSP00000392638:A227T;ENSP00000351594:A227T	ENSP00000333660:A227T	A	-	1	0	ZNF571	42748491	0.000000	0.05858	0.000000	0.03702	0.687000	0.40016	-0.056000	0.11787	0.209000	0.20645	0.313000	0.20887	GCA		0.383	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		17	44	0	0	0	1	0	17	44					T	38056651	C	T	38056651	3	4	461	1	0	0	0	0	1	0	0	0	18000	768	27	1	1154	1	ZNF571	19	38056651	Missense_Mutation	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08		38056651	21072332	36	31324											
TGM6	343641	broad.mit.edu	37	chr20	2375142	2375142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcggtcgaggaatggcGctgcccaccacacccaggag	9	3	15	14	3	0	0	0	0	0	0	1	3	0	2	3	5	2	2	3	5	1	0	rs202247258		TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr20:2375142G>A	ENST00000202625.2	+	2	113	c.52G>A	c.(52-54)Gct>Act	p.A18T	TGM6_ENST00000381423.1_Missense_Mutation_p.A18T|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	18					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GAGGAATGGCGCTGCCCACCA	0.647																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(52-54)Gct>Act		transglutaminase 6	L-Glutamine(DB00130)	G	THR/ALA	0,4406		0,0,2203	43	39	41		52	-4.4	0	20		41	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TGM6	NM_198994.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	18/707	2375142	1,13005	2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2375142G>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.52G>A	20.37:g.2375142G>A	ENSP00000202625:p.Ala18Thr					TGM6_ENST00000381423.1_Missense_Mutation_p.A18T|TGM6_ENST00000477505.1_3'UTR	p.A18T	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			2	113	+			18					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.52G>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	5.616	0.298404	0.10622	0.0	1.16E-4	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.85171	-1.95;-1.95	4.49	-4.41	0.03590	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.977622	0.08404	N	0.950995	T	0.71813	0.3384	L	0.29908	0.895	0.09310	N	1	B;B	0.25235	0.099;0.121	B;B	0.21546	0.035;0.025	T	0.56171	-0.8023	10	0.30854	T	0.27	0.8027	6.5075	0.22204	0.5907:0.1453:0.2639:0.0	.	18;18	O95932-2;O95932	.;TGM3L_HUMAN	T	18	ENSP00000202625:A18T;ENSP00000370831:A18T	ENSP00000202625:A18T	A	+	1	0	TGM6	2323142	0.000000	0.05858	0.004000	0.12327	0.074000	0.17049	-1.740000	0.01839	-0.574000	0.05990	-1.244000	0.01528	GCT		0.647	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		11	25	0	0	0	1	0	11	25					A	2375142	G	A	2375142	3	1	461	1	0	0	0	0	1	0	0	0	15831	1087	38	1	58	1	TGM6	20	2375142	Missense_Mutation	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08		2375142	60650378	37	31325											
RBM12	10137	broad.mit.edu	37	chr20	34240454	34240454	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgtgaatggctaccctaAtacaagttttacttttcttg	10	17	7	7	0	1	2	0	2	1	0	1	2	1	2	1	1	3	2	1	1	6	8			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr20:34240454A>G	ENST00000374114.3	-	3	3054	c.2791T>C	c.(2791-2793)Tta>Cta	p.L931L	RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Silent_p.L931L|RBM12_ENST00000359646.1_Silent_p.L931L|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397445.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	931	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGCTACCCTAATACAAGTTTT	0.403																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2791-2793)Tta>Cta		RNA binding motif protein 12							84	83	83					20																	34240454		2203	4300	6503	SO:0001819	synonymous_variant	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34240454A>G	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2791T>C	20.37:g.34240454A>G						RBM12_ENST00000359646.1_Silent_p.L931L|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Silent_p.L931L|CPNE1_ENST00000397445.1_Intron	p.L931L	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	3054	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		931			RRM 3.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	37	c.2791T>C	CCDS13261.1																																																																																				0.403	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		11	77	0	0	0	1	0	11	77					G	34240454	A	G	34240454	2	3	461	1	0	0	0	0	0	0	0	1	13113	98	4	4		4	RBM12	20	34240454	Silent	SNP	A	TCGA-YL-A8SJ-01B-11D-A377-08	31865312	34240454	28785066	38	31326											
MOV10L1	54456	broad.mit.edu	37	chr22	50581567	50581567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttaaaaggattctgagtGgtgactgccgtcccctcccg	8	10	11	12	2	1	2	0	2	1	0	3	3	3	3	4	2	1	1	4	2	2	2			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr22:50581567G>T	ENST00000262794.5	+	17	2358	c.2275G>T	c.(2275-2277)Ggt>Tgt	p.G759C	MOV10L1_ENST00000545383.1_Missense_Mutation_p.G759C|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G759C|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G739C|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	759					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			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)		GATTCTGAGTGGTGACTGCCG	0.443																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(2275-2277)Ggt>Tgt		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							136	141	139					22																	50581567		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50581567G>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2275G>T	22.37:g.50581567G>T	ENSP00000262794:p.Gly759Cys					MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G759C|MOV10L1_ENST00000545383.1_Missense_Mutation_p.G759C|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G739C	p.G759C	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	17	2358	+		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)	759					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.2275G>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580130	0.65992	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.86053	0.5841	N	0.20401	0.57	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;1.0	D	0.87538	0.2457	10	0.59425	D	0.04	-36.8932	19.6476	0.95789	0.0:0.0:1.0:0.0	.	520;739;759;759	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	C	759;759;759;739	ENSP00000438978:G759C;ENSP00000262794:G759C;ENSP00000379199:G759C;ENSP00000438542:G739C	ENSP00000262794:G759C	G	+	1	0	MOV10L1	48923694	1.000000	0.71417	0.986000	0.45419	0.102000	0.19082	9.191000	0.94940	2.647000	0.89833	0.655000	0.94253	GGT		0.443	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		6	122	1	0	3.59834e-05	1	3.83301e-05	6	122					T	50581567	G	T	50581567	3	4	461	1	0	0	0	0	1	0	0	0	9719	1348	47	5	2382	5	MOV10L1	22	50581567	Missense_Mutation	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08		50581567	722999	39	31327											
PFKFB1	5207	broad.mit.edu	37	chrX	54989723	54989723	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctatccagttgagatatcGtgtgagctttgtggagatat	9	15	11	6	1	0	3	0	2	0	2	3	5	2	3	2	1	1	2	2	1	3	5	rs372795411		TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chrX:54989723G>A	ENST00000375006.3	-	2	260	c.190C>T	c.(190-192)Cga>Tga	p.R64*	PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.R64*|PFKFB1_ENST00000545676.1_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	64	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTGAGATATCGTGTGAGCTTT	0.438																																						ENST00000375006.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(190-192)Cga>Tga		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1		G	stop/ARG	0,3835		0,0,1632,571	235	190	205		190	-5.6	0	X		205	1,6727		0,1,2427,1872	no	stop-gained	PFKFB1	NM_002625.2		0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095		64/472	54989723	1,10562	2203	4300	6503	SO:0001587	stop_gained	5207				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	g.chrX:54989723G>A		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.190C>T	X.37:g.54989723G>A	ENSP00000364145:p.Arg64*					PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.R64*|PFKFB1_ENST00000545676.1_Intron	p.R64*	NM_002625.2	NP_002616.2	P16118	F261_HUMAN			2	260	-			64			6-phosphofructo-2-kinase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Nonsense_Mutation	SNP	ENST00000375006.3	37	c.190C>T	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301160	0.81136	0.0	1.49E-4	ENSG00000158571	ENST00000375006;ENST00000374992	.	.	.	5.51	-5.55	0.02536	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7994	13.0478	0.58937	0.0615:0.0:0.2421:0.6964	.	.	.	.	X	64	.	ENSP00000364131:R64X	R	-	1	2	PFKFB1	55006448	0.964000	0.33143	0.001000	0.08648	0.936000	0.57629	0.699000	0.25586	-1.174000	0.02754	-0.237000	0.12165	CGA		0.438	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			32	92	0	0	0	1	0	32	92					A	54989723	G	A	54989723	4	1	461	1	0	0	0	0	0	1	0	0	11760	1153	40	1	1277	1	PFKFB1	23	54989723	Nonsense_Mutation	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08		54989723	100280837	40	31328											
CCDC27	148870	broad.mit.edu	37	chr1	3679746	3679746	+	Frame_Shift_Del	DEL	G	G	-																															ggcgaggaggacgagggcctGgaaggggagcccgatggggt																										TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr1:3679746delG	ENST00000294600.2	+	7	1113	c.1029delG	c.(1027-1029)ctgfs	p.L343fs		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	343	Glu-rich.									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)		ACGAGGGCCTGGAAGGGGAGC	0.672																																						ENST00000294600.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(1027-1029)ctfs		coiled-coil domain containing 27							43	43	43					1																	3679746		2179	4283	6462	SO:0001589	frameshift_variant	148870							g.chr1:3679746delG		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1029delG	1.37:g.3679746delG	ENSP00000294600:p.Leu343fs						p.L343fs	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN		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)	7	1113	+	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)	343			Glu-rich.		Q5TBV3|Q96M50	Frame_Shift_Del	DEL	ENST00000294600.2	37	c.1029delG	CCDS50.1																																																																																				0.672	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		2	4						2	4	---	---	---	---	-	3679746	G	-	3679746	7	5	462	1	0	1	0	1	0	0	0	0	2801	1335	47	0	1055	0	CCDC27	1	3679746	Frame_Shift_Del	DEL	G	TCGA-YL-A8SK-01B-21D-A377-08		3679746	245570875	1	31329											
SCMH1	22955	broad.mit.edu	37	chr1	41503177	41503177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtctgagtgtggttccaagGagcgggccagactattcccc	8	9	13	11	1	1	2	0	1	1	1	3	3	3	3	4	3	1	1	4	3	2	3			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr1:41503177G>A	ENST00000326197.7	-	12	1804	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	SCMH1_ENST00000337495.5_Missense_Mutation_p.S512F|SCMH1_ENST00000397174.2_Missense_Mutation_p.S482F|SCMH1_ENST00000472037.1_5'Flank|SCMH1_ENST00000402904.2_Missense_Mutation_p.S502F|SCMH1_ENST00000372597.1_Missense_Mutation_p.S455F|SCMH1_ENST00000372596.1_Missense_Mutation_p.S441F|SCMH1_ENST00000456518.2_Missense_Mutation_p.S344F|SCMH1_ENST00000361191.5_Missense_Mutation_p.S441F|SCMH1_ENST00000397171.2_Missense_Mutation_p.S441F|SCMH1_ENST00000361705.3_Missense_Mutation_p.S455F|SCMH1_ENST00000372595.1_Missense_Mutation_p.S441F					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TGGTTCCAAGGAGCGGGCCAG	0.532																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(1504-1506)tCc>tTc		sex comb on midleg homolog 1 (Drosophila)							199	184	189					1																	41503177		2203	4300	6503	SO:0001583	missense	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41503177G>A	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"Sterile alpha motif (SAM) domain containing"	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1505C>T	1.37:g.41503177G>A	ENSP00000318094:p.Ser502Phe					SCMH1_ENST00000456518.2_Missense_Mutation_p.S344F|SCMH1_ENST00000397171.2_Missense_Mutation_p.S441F|SCMH1_ENST00000397174.2_Missense_Mutation_p.S482F|SCMH1_ENST00000372596.1_Missense_Mutation_p.S441F|SCMH1_ENST00000372597.1_Missense_Mutation_p.S455F|SCMH1_ENST00000361705.3_Missense_Mutation_p.S455F|SCMH1_ENST00000361191.5_Missense_Mutation_p.S441F|SCMH1_ENST00000372595.1_Missense_Mutation_p.S441F|SCMH1_ENST00000337495.5_Missense_Mutation_p.S512F|SCMH1_ENST00000326197.7_Missense_Mutation_p.S502F	p.S502F	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN			13	1873	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	502						Missense_Mutation	SNP	ENST00000326197.7	37	c.1505C>T	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433792	0.62955	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.25579	2.15;1.79;2.22;2.12;2.13;2.13;2.15;2.13;2.12;2.22;2.22	4.31	4.31	0.51392	.	0.000000	0.64402	D	0.000004	T	0.25606	0.0623	L	0.27053	0.805	0.42916	D	0.994278	P;P;P;P	0.48016	0.894;0.828;0.904;0.836	B;B;P;B	0.47981	0.367;0.299;0.563;0.326	T	0.02713	-1.1120	10	0.59425	D	0.04	.	14.5889	0.68347	0.0:0.0:1.0:0.0	.	344;512;455;502	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	F	455;344;502;482;441;441;455;441;512;441;502	ENSP00000354996:S455F;ENSP00000403974:S344F;ENSP00000386079:S502F;ENSP00000380359:S482F;ENSP00000380356:S441F;ENSP00000354656:S441F;ENSP00000361678:S455F;ENSP00000361677:S441F;ENSP00000337352:S512F;ENSP00000361676:S441F;ENSP00000318094:S502F	ENSP00000318094:S502F	S	-	2	0	SCMH1	41275764	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	5.655000	0.67981	2.674000	0.91012	0.655000	0.94253	TCC		0.532	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			24	80	0	0	0	1	0	24	80					A	41503177	G	A	41503177	3	1	462	1	0	0	0	0	1	0	0	0	13908	1174	41	3	493	3	SCMH1	1	41503177	Missense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08	37823431	41503177	207747444	2	31330											
LRRC8B	23507	broad.mit.edu	37	chr1	90058514	90058514	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtcagtccctaaaacGgaactgtctgattgttgagg	11	11	12	7	1	2	2	1	2	1	0	3	4	3	4	1	3	2	1	1	3	3	3	rs369449390		TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr1:90058514G>C	ENST00000330947.2	+	6	2684	c.2324G>C	c.(2323-2325)cGg>cCg	p.R775P	LRRC8B_ENST00000358200.4_Missense_Mutation_p.R775P|LRRC8B_ENST00000439853.1_Missense_Mutation_p.R775P|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	775					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		TCCCTAAAACGGAACTGTCTG	0.433																																						ENST00000330947.2																			0				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						c.(2323-2325)cGg>cCg		leucine rich repeat containing 8 family, member B							154	139	144					1																	90058514		2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90058514G>C	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.2324G>C	1.37:g.90058514G>C	ENSP00000332674:p.Arg775Pro					RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.R775P|LRRC8B_ENST00000439853.1_Missense_Mutation_p.R775P	p.R775P	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	6	2684	+		all_lung(203;0.17)	775					D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.2324G>C	CCDS724.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473874	0.63737	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.01005	5.45;5.45;5.45	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000012	T	0.00608	0.0020	L	0.45137	1.4	0.50467	D	0.99987	B	0.17465	0.022	B	0.13407	0.009	T	0.65578	-0.6134	9	.	.	.	.	16.2434	0.82429	0.0:0.1318:0.8682:0.0	.	775	Q6P9F7	LRC8B_HUMAN	P	775	ENSP00000332674:R775P;ENSP00000350933:R775P;ENSP00000400704:R775P	.	R	+	2	0	LRRC8B	89831102	1.000000	0.71417	0.985000	0.45067	0.928000	0.56348	3.492000	0.53259	2.937000	0.99478	0.650000	0.86243	CGG		0.433	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		22	81	0	0	0	1	0	22	81					C	90058514	G	C	90058514	3	2	462	1	0	0	0	0	1	0	0	0	9022	1116	39	5	2330	5	LRRC8B	1	90058514	Missense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08	48555337	90058514	159192107	3	31331											
S100A8	6279	broad.mit.edu	37	chr1	153362588	153362588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaactcagctactctttGtggctttcttcatggctttt	6	18	7	10	0	4	0	2	0	2	0	4	0	4	0	0	2	3	4	0	2	2	7			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr1:153362588G>T	ENST00000368733.3	-	3	442	c.273C>A	c.(271-273)caC>caA	p.H91Q	S100A8_ENST00000477801.1_5'Flank|S100A8_ENST00000368732.1_Missense_Mutation_p.H91Q	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	91				VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTACTCTTTGTGGCTTTCTT	0.468																																						ENST00000368733.3																			0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(271-273)caC>caA		S100 calcium binding protein A8							109	111	111					1																	153362588		2203	4300	6503	SO:0001583	missense	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362588G>T	BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"S100 calcium binding proteins", "EF-hand domain containing"	10498	protein-coding gene	gene with protein product		123885	"S100 calcium-binding protein A8 (calgranulin A)", "S100 calcium binding protein A8 (calgranulin A)"	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.273C>A	1.37:g.153362588G>T	ENSP00000357722:p.His91Gln					S100A8_ENST00000368732.1_Missense_Mutation_p.H91Q	p.H91Q	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	442	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		91	VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390).				A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Missense_Mutation	SNP	ENST00000368733.3	37	c.273C>A	CCDS1038.1	.	.	.	.	.	.	.	.	.	.	G	3.559	-0.090004	0.07053	.	.	ENSG00000143546	ENST00000368733;ENST00000368732	T;T	0.05319	3.46;3.46	4.52	4.52	0.55395	EF-hand-like domain (1);	.	.	.	.	T	0.01905	0.0060	.	.	.	0.20307	N	0.999919	P	0.34662	0.462	B	0.36534	0.227	T	0.46679	-0.9174	8	0.16896	T	0.51	.	13.0476	0.58935	0.0:0.0:1.0:0.0	.	91	P05109	S10A8_HUMAN	Q	91	ENSP00000357722:H91Q;ENSP00000357721:H91Q	ENSP00000357721:H91Q	H	-	3	2	S100A8	151629212	0.746000	0.28272	0.420000	0.26596	0.170000	0.22686	3.817000	0.55668	2.798000	0.96311	0.650000	0.86243	CAC		0.468	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1	NM_002964		18	88	1	0	1.96292e-10	1	2.20829e-10	18	88					T	153362588	G	T	153362588	3	4	462	1	0	0	0	0	1	0	0	0	13786	1368	48	5	12	5	S100A8	1	153362588	Missense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08	63304074	153362588	95888033	4	31332											
RANBP2	5903	broad.mit.edu	37	chr2	109365442	109365442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagattgttgaaacttttgCcaacaaaagcgggcagtctg	13	10	11	7	1	1	2	0	1	1	1	1	3	1	2	1	1	4	2	1	1	4	4			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:109365442C>T	ENST00000283195.6	+	9	1256	c.1130C>T	c.(1129-1131)gCc>gTc	p.A377V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	377					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		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						GAAACTTTTGCCAACAAAAGC	0.348																																						ENST00000283195.6																		RANBP2/ALK(34)	0				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						c.(1129-1131)gCc>gTc		RAN binding protein 2							200	215	210					2																	109365442		2203	4300	6503	SO:0001583	missense	5903				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	g.chr2:109365442C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1130C>T	2.37:g.109365442C>T	ENSP00000283195:p.Ala377Val						p.A377V	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			9	1256	+			377					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1130C>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423130	0.62733	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.33216	1.42	5.53	5.53	0.82687	.	.	.	.	.	T	0.54919	0.1888	L	0.60455	1.87	0.37478	D	0.915879	D	0.76494	0.999	D	0.80764	0.994	T	0.59172	-0.7504	9	0.87932	D	0	-10.3724	19.8143	0.96560	0.0:1.0:0.0:0.0	.	377	P49792	RBP2_HUMAN	V	377	ENSP00000283195:A377V	ENSP00000283195:A377V	A	+	2	0	RANBP2	108731874	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	4.255000	0.58804	2.747000	0.94245	0.650000	0.86243	GCC		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		5	301	0	0	0	1	0	5	301					T	109365442	C	T	109365442	3	4	462	1	0	0	0	0	1	0	0	0	13028	739	26	3	1164	3	RANBP2	2	109365442	Missense_Mutation	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08		109365442	133833931	5	31333											
RANBP2	5903	broad.mit.edu	37	chr2	109382805	109382805	+	Frame_Shift_Del	DEL	T	T	-																															gaagaatggccgtggtgtgaTttttggccaaacaagtagca																										TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:109382805delT	ENST00000283195.6	+	20	5936	c.5810delT	c.(5809-5811)attfs	p.I1937fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1937					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		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						CGTGGTGTGATTTTTGGCCAA	0.413																																						ENST00000283195.6																		RANBP2/ALK(34)	0				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						c.(5809-5811)atfs		RAN binding protein 2							93	111	105					2																	109382805		2195	4282	6477	SO:0001589	frameshift_variant	5903				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	g.chr2:109382805delT	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5810delT	2.37:g.109382805delT	ENSP00000283195:p.Ile1937fs						p.I1937fs	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	5936	+			1937					Q13074|Q15280|Q53TE2|Q59FH7	Frame_Shift_Del	DEL	ENST00000283195.6	37	c.5810delT	CCDS2079.1																																																																																				0.413	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	539						7	539	---	---	---	---	-	109382805	T	-	109382805	7	5	462	1	0	1	0	1	0	0	0	0	13028	1493	52	0	5888	0	RANBP2	2	109382805	Frame_Shift_Del	DEL	T	TCGA-YL-A8SK-01B-21D-A377-08	17363	109382805	133816568	6	31334											
CNTNAP5	129684	broad.mit.edu	37	chr2	125547510	125547510	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagacagaaaggcttcctAggatgcattcgctccttaca	11	10	8	12	1	0	2	0	0	0	2	4	3	3	3	3	2	2	3	3	2	3	4			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:125547510A>G	ENST00000431078.1	+	18	3145	c.2781A>G	c.(2779-2781)ctA>ctG	p.L927L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	927	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAGGCTTCCTAGGATGCATTC	0.463																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2779-2781)ctA>ctG		contactin associated protein-like 5							55	54	54					2																	125547510		1988	4173	6161	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125547510A>G	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2781A>G	2.37:g.125547510A>G							p.L927L	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	18	3145	+			927			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2781A>G	CCDS46401.1																																																																																				0.463	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			11	34	0	0	0	1	0	11	34					G	125547510	A	G	125547510	2	3	462	1	0	0	0	0	0	0	0	1	3650	407	15	4		4	CNTNAP5	2	125547510	Silent	SNP	A	TCGA-YL-A8SK-01B-21D-A377-08	16164705	125547510	117651863	7	31335											
PROC	5624	broad.mit.edu	37	chr2	128186333	128186333	+	Frame_Shift_Del	DEL	G	G	-																															gaccggcaggatgcctgcgaGggcgacagtggggggcccat																										TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:128186333delG	ENST00000234071.3	+	9	1284	c.1197delG	c.(1195-1197)gagfs	p.E399fs	PROC_ENST00000422777.3_Frame_Shift_Del_p.E399fs|PROC_ENST00000453608.2_Frame_Shift_Del_p.E454fs|PROC_ENST00000409048.1_Frame_Shift_Del_p.E433fs	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	399	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ATGCCTGCGAGGGCGACAGTG	0.652																																						ENST00000453608.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(1360-1362)gafs		protein C (inactivator of coagulation factors Va and VIIIa)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						58	66	63					2																	128186333		2203	4300	6503	SO:0001589	frameshift_variant	5624				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	g.chr2:128186333delG	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"Endogenous ligands"	9451	protein-coding gene	gene with protein product	"prepro-protein C"	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.1197delG	2.37:g.128186333delG	ENSP00000234071:p.Glu399fs					PROC_ENST00000409048.1_Frame_Shift_Del_p.E433fs|PROC_ENST00000234071.3_Frame_Shift_Del_p.E399fs|PROC_ENST00000422777.3_Frame_Shift_Del_p.E399fs	p.E454fs			P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	8	1370	+	Colorectal(110;0.1)		399					B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Frame_Shift_Del	DEL	ENST00000234071.3	37	c.1362delG	CCDS2145.1																																																																																				0.652	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		18	99						18	99	---	---	---	---	-	128186333	G	-	128186333	7	5	462	1	0	1	0	1	0	0	0	0	12545	991	35	0	1227	0	PROC	2	128186333	Frame_Shift_Del	DEL	G	TCGA-YL-A8SK-01B-21D-A377-08	2638823	128186333	115013040	8	31336											
UGGT1	56886	broad.mit.edu	37	chr2	128917179	128917179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctccagagcaatctgggCagctctccaaactcagactt	11	9	8	13	0	4	2	1	0	3	2	6	3	4	2	2	1	3	3	2	1	2	1			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:128917179C>T	ENST00000259253.6	+	23	2494	c.2447C>T	c.(2446-2448)gCa>gTa	p.A816V	UGGT1_ENST00000375990.3_Missense_Mutation_p.A792V	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	816					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			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						GCAATCTGGGCAGCTCTCCAA	0.478																																						ENST00000375990.3																			0				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						c.(2374-2376)gCa>gTa		UDP-glucose glycoprotein glucosyltransferase 1							98	99	99					2																	128917179		2203	4300	6503	SO:0001583	missense	56886				'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	g.chr2:128917179C>T	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2447C>T	2.37:g.128917179C>T	ENSP00000259253:p.Ala816Val					UGGT1_ENST00000259253.6_Missense_Mutation_p.A816V	p.A792V			Q9NYU2	UGGG1_HUMAN			23	2778	+			816					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.2375C>T	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448915	0.96205	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.29655	1.56;1.56	5.4	5.4	0.78164	.	0.154927	0.64402	D	0.000020	T	0.46268	0.1384	M	0.82323	2.585	0.80722	D	1	B;P	0.45594	0.171;0.862	B;B	0.44278	0.193;0.445	T	0.51148	-0.8742	9	.	.	.	.	19.5373	0.95257	0.0:1.0:0.0:0.0	.	792;816	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	V	792;816	ENSP00000365158:A792V;ENSP00000259253:A816V	.	A	+	2	0	UGGT1	128633649	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.315000	0.78998	2.696000	0.92011	0.557000	0.71058	GCA		0.478	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		16	63	0	0	0	1	0	16	63					T	128917179	C	T	128917179	3	4	462	1	0	0	0	0	1	0	0	0	16938	710	25	3	2537	3	UGGT1	2	128917179	Missense_Mutation	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08	730846	128917179	114282194	9	31337											
IGSF11	152404	broad.mit.edu	37	chr3	118621499	118621499	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctactgactgagccattGctcctggacatcacctgtgg	7	12	9	13	0	1	2	1	2	0	0	3	3	3	3	4	2	3	1	4	2	1	3			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr3:118621499G>A	ENST00000393775.2	-	7	1469	c.1164C>T	c.(1162-1164)agC>agT	p.S388S	IGSF11_ENST00000489689.1_Silent_p.S364S|IGSF11_ENST00000441144.2_Silent_p.S363S|IGSF11_ENST00000491903.1_Silent_p.S360S|IGSF11_ENST00000425327.2_Silent_p.S387S|IGSF11_ENST00000354673.2_Silent_p.S387S	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	388			S -> N (in dbSNP:rs34908332).		cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						CTGAGCCATTGCTCCTGGACA	0.527																																						ENST00000354673.2																			0				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						c.(1159-1161)agC>agT		immunoglobulin superfamily, member 11							132	100	111					3																	118621499		2203	4300	6503	SO:0001819	synonymous_variant	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118621499G>A	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"Immunoglobulin superfamily / I-set domain containing"	16669	protein-coding gene	gene with protein product	"cancer/testis antigen 119"	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.1164C>T	3.37:g.118621499G>A						IGSF11_ENST00000491903.1_Silent_p.S360S|IGSF11_ENST00000393775.2_Silent_p.S388S|IGSF11_ENST00000425327.2_Silent_p.S387S|IGSF11_ENST00000489689.1_Silent_p.S364S|IGSF11_ENST00000441144.2_Silent_p.S363S	p.S387S	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN			9	1541	-			388					C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Silent	SNP	ENST00000393775.2	37	c.1161C>T	CCDS46891.1																																																																																				0.527	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			14	40	0	0	0	1	0	14	40					A	118621499	G	A	118621499	2	1	462	1	0	0	0	0	0	0	0	1	7598	1310	46	3		3	IGSF11	3	118621499	Silent	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08		118621499	79400931	10	31338											
WFS1	7466	broad.mit.edu	37	chr4	6302392	6302392	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttcccccaggtggtcaaGtaccccctgcacgccatcat	7	10	7	17	1	3	0	2	0	1	0	4	0	4	0	5	2	2	2	5	2	2	2			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr4:6302392G>A	ENST00000226760.1	+	8	1040	c.870G>A	c.(868-870)aaG>aaA	p.K290K	WFS1_ENST00000503569.1_Silent_p.K290K	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	290					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGGTGGTCAAGTACCCCCTGC	0.617																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(868-870)aaG>aaA		Wolfram syndrome 1 (wolframin)							137	119	125					4																	6302392		2203	4300	6503	SO:0001819	synonymous_variant	7466				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	g.chr4:6302392G>A	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.870G>A	4.37:g.6302392G>A						WFS1_ENST00000503569.1_Silent_p.K290K	p.K290K	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1040	+			290					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	c.870G>A	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	g	0.071	-1.202685	0.01581	.	.	ENSG00000109501	ENST00000506362	.	.	.	4.45	2.34	0.29019	.	.	.	.	.	T	0.46927	0.1418	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33828	-0.9853	4	.	.	.	-17.8313	4.2006	0.10464	0.5304:0.0:0.4696:0.0	.	.	.	.	N	168	.	.	S	+	2	0	WFS1	6353293	1.000000	0.71417	0.996000	0.52242	0.332000	0.28634	1.480000	0.35464	0.869000	0.35703	0.556000	0.70494	AGT		0.617	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			11	19	0	0	0	1	0	11	19					A	6302392	G	A	6302392	2	1	462	1	0	0	0	0	0	0	0	1	17357	1020	36	3		3	WFS1	4	6302392	Silent	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08		6302392	184851884	11	31339											
PLEKHG4B	153478	broad.mit.edu	37	chr5	161984	161984	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatttcagaaggggcctgagCgccgtggtcagccaggctga	8	7	16	10	2	2	3	2	2	0	1	2	4	2	3	3	4	2	1	3	4	1	1	rs373547646	byFrequency	TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr5:161984C>T	ENST00000283426.6	+	10	1556	c.1506C>T	c.(1504-1506)agC>agT	p.S502S		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	502							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S502S(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGGGCCTGAGCGCCGTGGTCA	0.612													C|||	2	0.000399361	0	0	5008	,	,		16549	0		0	False		,,,				2504	0.002					ENST00000283426.6																			1	Substitution - coding silent(1)	p.S502S(1)	large_intestine(1)	endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(1504-1506)agC>agT		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B		C		0,4406		0,0,2203	86	78	81		1506	-2.3	0	5		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLEKHG4B	NM_052909.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		502/1272	161984	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:161984C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1506C>T	5.37:g.161984C>T							p.S502S	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	10	1556	+			502						Silent	SNP	ENST00000283426.6	37	c.1506C>T	CCDS34124.1																																																																																				0.612	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		9	24	0	0	0	1	0	9	24					T	161984	C	T	161984	2	4	462	1	0	0	0	0	0	0	0	1	12072	767	27	1		1	PLEKHG4B	5	161984	Silent	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08		161984	180753276	12	31340											
COX7C	1350	broad.mit.edu	37	chr5	85915176	85915176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttttttccaacagaatttgCcattttcagtggaaaacaag	13	15	6	7	0	1	1	1	0	0	1	2	2	2	2	2	1	3	0	2	1	5	6			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr5:85915176C>T	ENST00000509578.1	+	2	182	c.82C>T	c.(82-84)Cca>Tca	p.P28S	COX7C_ENST00000247655.3_Missense_Mutation_p.P28S|MIR3607_ENST00000362392.1_RNA|COX7C_ENST00000513124.1_3'UTR|COX7C_ENST00000515763.1_Missense_Mutation_p.P28S			P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc	28					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|lung(1)	2		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)		ACAGAATTTGCCATTTTCAGT	0.338																																						ENST00000509578.1																			0				endometrium(1)|lung(1)	2						c.(82-84)Cca>Tca		cytochrome c oxidase subunit VIIc							112	108	109					5																	85915176		2203	4300	6503	SO:0001583	missense	1350				respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity	g.chr5:85915176C>T	BC001005	CCDS4063.1	5q14	2011-07-04			ENSG00000127184	ENSG00000127184	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2292	protein-coding gene	gene with protein product		603774				10072584	Standard	NM_001867		Approved		uc003kir.3	P15954	OTTHUMG00000119049	ENST00000509578.1:c.82C>T	5.37:g.85915176C>T	ENSP00000425759:p.Pro28Ser					COX7C_ENST00000247655.3_Missense_Mutation_p.P28S|COX7C_ENST00000515763.1_Missense_Mutation_p.P28S|COX7C_ENST00000513124.1_3'UTR	p.P28S			P15954	COX7C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)	2	182	+		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)	28					Q6NR81	Missense_Mutation	SNP	ENST00000509578.1	37	c.82C>T	CCDS4063.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830793	0.71258	.	.	ENSG00000127184	ENST00000247655;ENST00000509578;ENST00000515763	.	.	.	5.6	5.6	0.85130	Cytochrome c oxidase, subunit VIIc domain (2);	0.000000	0.85682	D	0.000000	T	0.79305	0.4423	.	.	.	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.80937	-0.1159	8	0.62326	D	0.03	-13.1853	15.1019	0.72284	0.0:1.0:0.0:0.0	.	28	P15954	COX7C_HUMAN	S	28	.	ENSP00000247655:P28S	P	+	1	0	COX7C	85950932	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	5.376000	0.66178	2.622000	0.88805	0.655000	0.94253	CCA		0.338	COX7C-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369746.1	NM_001867		4	79	0	0	0	1	0	4	79					T	85915176	C	T	85915176	3	4	462	1	0	0	0	0	1	0	0	0	3784	739	26	3	88	3	COX7C	5	85915176	Missense_Mutation	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08	85753192	85915176	95000084	13	31341											
RHOBTB3	22836	broad.mit.edu	37	chr5	95067675	95067675	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctctggtctccggggacGagagcagcttgttgctgaac	6	9	14	12	2	2	2	0	1	2	1	3	4	2	3	2	3	4	4	2	3	1	2			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr5:95067675G>T	ENST00000379982.3	+	2	623	c.115G>T	c.(115-117)Gag>Tag	p.E39*	RHOBTB3_ENST00000506817.1_Nonsense_Mutation_p.E39*|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000513235.1_RNA	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	39	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CTCCGGGGACGAGAGCAGCTT	0.642																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(115-117)Gag>Tag		Rho-related BTB domain containing 3							57	52	54					5																	95067675		2203	4300	6503	SO:0001587	stop_gained	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95067675G>T	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.115G>T	5.37:g.95067675G>T	ENSP00000369318:p.Glu39*					RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Nonsense_Mutation_p.E39*	p.E39*	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	2	623	+		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)	39			Rho-like.		A0PJA4|A8K1W9|Q8IW06	Nonsense_Mutation	SNP	ENST00000379982.3	37	c.115G>T	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	G	36	5.774001	0.96922	.	.	ENSG00000164292	ENST00000506959;ENST00000506817;ENST00000379982	.	.	.	4.86	4.86	0.63082	.	0.275955	0.34268	N	0.004115	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-10.0894	15.2593	0.73610	0.0:0.0:1.0:0.0	.	.	.	.	X	45;39;39	.	ENSP00000369318:E39X	E	+	1	0	RHOBTB3	95093431	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.255000	0.65462	2.396000	0.81511	0.557000	0.71058	GAG		0.642	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		3	36	1	0	0.00909568	1	0.00909568	3	36					T	95067675	G	T	95067675	4	4	462	1	0	0	0	0	0	1	0	0	13335	1059	37	5	121	5	RHOBTB3	5	95067675	Nonsense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08	9152499	95067675	85847585	14	31342											
PCDHGA12	26025	broad.mit.edu	37	chr5	140810551	140810551	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggtaggacgcagcttttCgccctgaatccgcgcagcgg	8	7	14	12	5	0	2	0	1	0	1	2	3	1	3	2	3	2	4	2	3	2	3			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr5:140810551C>T	ENST00000252085.3	+	1	367	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	75	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGCTTTTCGCCCTGAATC	0.632																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(223-225)ttC>ttT									57	71	66					5																	140810551		2202	4300	6502	SO:0001819	synonymous_variant	0							g.chr5:140810551C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.225C>T	5.37:g.140810551C>T						PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.F75F	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	367	+								O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.225C>T	CCDS4260.1																																																																																				0.632	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		20	76	0	0	0	1	0	20	76					T	140810551	C	T	140810551	2	4	462	1	0	0	0	0	0	0	0	1	11553	883	31	2		2	PCDHGA12	5	140810551	Silent	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08	45742876	140810551	40104709	15	31343											
BAI3	577	broad.mit.edu	37	chr6	70071345	70071345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatggcctctgagttggatGataatgcaggactatcaaga	12	11	11	7	0	3	3	2	2	1	1	3	5	3	5	1	3	1	2	1	3	3	3			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr6:70071345G>A	ENST00000370598.1	+	29	5001	c.4180G>A	c.(4180-4182)Gat>Aat	p.D1394N	BAI3_ENST00000238918.8_Missense_Mutation_p.D600N|BAI3_ENST00000546190.1_Missense_Mutation_p.D358N	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1394					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGAGTTGGATGATAATGCAGG	0.403																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(4180-4182)Gat>Aat		brain-specific angiogenesis inhibitor 3							102	107	106					6																	70071345		2203	4299	6502	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70071345G>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4180G>A	6.37:g.70071345G>A	ENSP00000359630:p.Asp1394Asn					BAI3_ENST00000238918.8_Missense_Mutation_p.D600N|BAI3_ENST00000546190.1_Missense_Mutation_p.D358N	p.D1394N	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			29	5001	+		all_lung(197;0.212)	1394					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.4180G>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708064	0.48412	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.05717	3.4;3.4;3.4	5.8	5.8	0.92144	.	0.093649	0.64402	D	0.000001	T	0.02848	0.0085	N	0.22421	0.69	0.52099	D	0.999945	B;B	0.26635	0.155;0.0	B;B	0.26614	0.071;0.0	T	0.52895	-0.8514	10	0.23891	T	0.37	.	20.1141	0.97919	0.0:0.0:1.0:0.0	.	600;1394	B7Z356;O60242	.;BAI3_HUMAN	N	1394;600;358	ENSP00000359630:D1394N;ENSP00000238918:D600N;ENSP00000441821:D358N	ENSP00000238918:D600N	D	+	1	0	BAI3	70128066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.766000	0.95052	0.650000	0.86243	GAT		0.403	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			27	49	0	0	0	1	0	27	49					A	70071345	G	A	70071345	3	1	462	1	0	0	0	0	1	0	0	0	1300	1290	45	3	4286	3	BAI3	6	70071345	Missense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08		70071345	101043722	16	31344											
SYNE1	23345	broad.mit.edu	37	chr6	152453342	152453342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcagcagaagaccaggaaGacaaatcctatgtgggagaa	17	5	11	8	0	1	4	1	0	0	4	2	6	2	5	2	2	1	1	2	2	5	1			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr6:152453342G>A	ENST00000367255.5	-	144	26610	c.26009C>T	c.(26008-26010)tCt>tTt	p.S8670F	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.S825F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S8622F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S8282F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S8670F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S3194F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S8622F|SYNE1_ENST00000354674.4_Missense_Mutation_p.S848F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8670	Ser-rich.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			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)		AGACCAGGAAGACAAATCCTA	0.512										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(26008-26010)tCt>tTt		spectrin repeat containing, nuclear envelope 1							144	130	135					6																	152453342		2203	4300	6503	SO:0001583	missense	23345				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	g.chr6:152453342G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.26009C>T	6.37:g.152453342G>A	ENSP00000356224:p.Ser8670Phe	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.S8622F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S3194F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S8670F|SYNE1_ENST00000354674.4_Missense_Mutation_p.S848F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S8282F|SYNE1_ENST00000539504.1_Missense_Mutation_p.S825F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S8622F|SYNE1_ENST00000347037.5_5'UTR	p.S8670F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	144	26610	-		Ovarian(120;0.0955)	8670			Ser-rich.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.26009C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	30	5.051727	0.93793	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.58210	0.44;4.52;1.34;0.45;0.35;0.45;0.54;2.41;1.5;4.52	5.75	5.75	0.90469	.	0.000000	0.49916	D	0.000130	T	0.66356	0.2781	M	0.68952	2.095	0.58432	D	0.999999	D;D;D;D;P	0.71674	0.997;0.997;0.998;0.997;0.751	P;P;D;D;B	0.68483	0.851;0.851;0.958;0.909;0.395	T	0.63773	-0.6561	10	0.45353	T	0.12	.	19.9447	0.97177	0.0:0.0:1.0:0.0	.	8670;8670;8622;8622;872	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	F	8670;825;1316;8622;8670;8622;8282;3194;855;850;1615;848	ENSP00000356224:S8670F;ENSP00000441052:S825F;ENSP00000356226:S1316F;ENSP00000396024:S8622F;ENSP00000265368:S8670F;ENSP00000390975:S8622F;ENSP00000341887:S8282F;ENSP00000349276:S3194F;ENSP00000356220:S1615F;ENSP00000346701:S848F	ENSP00000265368:S8670F	S	-	2	0	SYNE1	152495035	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.230000	0.95299	2.719000	0.93026	0.655000	0.94253	TCT		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		24	86	0	0	0	1	0	24	86					A	152453342	G	A	152453342	3	1	462	1	0	0	0	0	1	0	0	0	15442	942	33	3	396	3	SYNE1	6	152453342	Missense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08	82381997	152453342	18661725	17	31345											
CA13	377677	broad.mit.edu	37	chr8	86163132	86163132	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaacagcggccattccttCaatgttgactttgatgacac	11	11	8	11	1	1	3	1	3	0	0	2	3	2	3	2	1	3	2	2	1	2	4			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr8:86163132C>T	ENST00000321764.3	+	2	503	c.201C>T	c.(199-201)ttC>ttT	p.F67F	RP11-219B4.6_ENST00000551479.1_5'Flank|CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	67					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.F67F(2)		large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	GCCATTCCTTCAATGTTGACT	0.398																																						ENST00000321764.3																			2	Substitution - coding silent(2)	p.F67F(2)	lung(2)	large_intestine(1)|lung(6)	7						c.(199-201)ttC>ttT		carbonic anhydrase XIII							171	171	171					8																	86163132		2203	4300	6503	SO:0001819	synonymous_variant	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86163132C>T	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"Carbonic anhydrases"	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.201C>T	8.37:g.86163132C>T						CA13_ENST00000517298.1_3'UTR	p.F67F	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN			2	503	+			67						Silent	SNP	ENST00000321764.3	37	c.201C>T	CCDS6236.1																																																																																				0.398	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		5	221	0	0	0	1	0	5	221					T	86163132	C	T	86163132	2	4	462	1	0	0	0	0	0	0	0	1	2514	825	29	3		3	CA13	8	86163132	Silent	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08		86163132	60200890	18	31346											
PSAT1	29968	broad.mit.edu	37	chr9	80923474	80923474	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaggctggaaacagctccTtgtacaacacgcctccatgt	10	9	9	13	1	0	0	0	0	0	0	2	1	2	1	3	2	5	4	3	2	3	2			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr9:80923474T>C	ENST00000376588.3	+	6	783	c.715T>C	c.(715-717)Ttg>Ctg	p.L239L	PSAT1_ENST00000347159.2_Silent_p.L239L	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	239					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						AAACAGCTCCTTGTACAACAC	0.537																																					Colon(34;187 791 10662 18313 37609)	ENST00000376588.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(715-717)Ttg>Ctg		phosphoserine aminotransferase 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						94	77	83					9																	80923474		2203	4300	6503	SO:0001819	synonymous_variant	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80923474T>C	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.715T>C	9.37:g.80923474T>C						PSAT1_ENST00000347159.2_Silent_p.L239L	p.L239L	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN			6	783	+			239					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Silent	SNP	ENST00000376588.3	37	c.715T>C	CCDS6660.1																																																																																				0.537	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		3	59	0	0	0	1	0	3	59					C	80923474	T	C	80923474	2	2	462	1	0	0	0	0	0	0	0	1	12644	1606	56	4		4	PSAT1	9	80923474	Silent	SNP	T	TCGA-YL-A8SK-01B-21D-A377-08		80923474	60289957	19	31347											
SETX	23064	broad.mit.edu	37	chr9	135153581	135153581	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcatgttgtgttctacatTctcttccagcagtctgcaga	8	15	8	10	0	4	1	1	0	3	1	6	2	5	1	1	0	3	4	1	0	1	5			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr9:135153581T>G	ENST00000224140.5	-	21	6900	c.6718A>C	c.(6718-6720)Aat>Cat	p.N2240H	SETX_ENST00000372169.2_Missense_Mutation_p.N2240H|SETX_ENST00000477049.1_5'Flank|SETX_ENST00000393220.1_Missense_Mutation_p.N2240H	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2240					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGTTCTACATTCTCTTCCAGC	0.453																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(6718-6720)Aat>Cat		senataxin							176	156	163					9																	135153581		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135153581T>G	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6718A>C	9.37:g.135153581T>G	ENSP00000224140:p.Asn2240His					SETX_ENST00000393220.1_Missense_Mutation_p.N2240H|SETX_ENST00000224140.5_Missense_Mutation_p.N2240H	p.N2240H			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	21	6900	-		Myeloproliferative disorder(178;0.204)	2240					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.6718A>C	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310270	0.60414	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.91011	-2.16;-2.77;-2.24;-1.89	5.87	2.19	0.27852	.	0.935070	0.09027	N	0.859291	D	0.88429	0.6434	L	0.39898	1.24	0.09310	N	1	B;P;P	0.49696	0.329;0.927;0.911	B;P;P	0.52109	0.208;0.69;0.562	T	0.77739	-0.2475	10	0.62326	D	0.03	.	2.2649	0.04076	0.1287:0.0912:0.2418:0.5384	.	2240;2240;2240	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	H	2240;482;2240;2240	ENSP00000224140:N2240H;ENSP00000409143:N482H;ENSP00000361242:N2240H;ENSP00000376913:N2240H	ENSP00000224140:N2240H	N	-	1	0	SETX	134143402	0.237000	0.23815	0.312000	0.25196	0.980000	0.70556	1.200000	0.32247	0.427000	0.26145	0.528000	0.53228	AAT		0.453	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		16	77	0	0	0	1	0	16	77					G	135153581	T	G	135153581	3	3	462	1	0	0	0	0	1	0	0	0	14141	1783	62	5	1339	5	SETX	9	135153581	Missense_Mutation	SNP	T	TCGA-YL-A8SK-01B-21D-A377-08	54230107	135153581	6059850	20	31348											
DLG5	9231	broad.mit.edu	37	chr10	79571813	79571813	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccgcaggtttatgccgttGaactggggaaacaccaggat	10	9	12	10	2	0	1	0	1	0	0	1	3	1	3	3	4	3	3	3	4	3	3			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:79571813G>A	ENST00000372391.2	-	22	4196	c.4191C>T	c.(4189-4191)ttC>ttT	p.F1397F	DLG5_ENST00000372388.2_Silent_p.F1057F|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1397	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			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)			TTATGCCGTTGAACTGGGGAA	0.647																																						ENST00000372391.2																			0				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						c.(4189-4191)ttC>ttT		discs, large homolog 5 (Drosophila)							66	60	62					10																	79571813		2203	4300	6503	SO:0001819	synonymous_variant	9231				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	g.chr10:79571813G>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4191C>T	10.37:g.79571813G>A						DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.F1057F	p.F1397F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		22	4196	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1397			PDZ 3.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.4191C>T	CCDS7353.2																																																																																				0.647	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			10	43	0	0	0	1	0	10	43					A	79571813	G	A	79571813	2	1	462	1	0	0	0	0	0	0	0	1	4558	1281	45	3		3	DLG5	10	79571813	Silent	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08		79571813	55962934	21	31349											
ZMIZ1	57178	broad.mit.edu	37	chr10	81065297	81065297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccttttccagtaaaaccGctctgctggagggcctggag	7	11	11	12	1	2	0	0	0	2	0	4	2	3	2	4	3	2	3	4	3	2	3			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:81065297G>A	ENST00000334512.5	+	21	2934	c.2362G>A	c.(2362-2364)Gct>Act	p.A788T	ZMIZ1_ENST00000446377.2_5'Flank	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	788					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			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)			CAGTAAAACCGCTCTGCTGGA	0.617																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2362-2364)Gct>Act		zinc finger, MIZ-type containing 1							120	115	117					10																	81065297		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81065297G>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2362G>A	10.37:g.81065297G>A	ENSP00000334474:p.Ala788Thr						p.A788T	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		21	2934	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		788					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.2362G>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	36	5.627624	0.96671	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	D	0.84146	-1.81	5.6	5.6	0.85130	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, MIZ-type (1);	0.000000	0.41294	D	0.000915	D	0.92848	0.7725	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92603	0.6093	10	0.52906	T	0.07	-5.9598	19.6028	0.95570	0.0:0.0:1.0:0.0	.	788	Q9ULJ6	ZMIZ1_HUMAN	T	788;718;691	ENSP00000334474:A788T	ENSP00000334474:A788T	A	+	1	0	ZMIZ1	80735303	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	9.441000	0.97557	2.648000	0.89879	0.591000	0.81541	GCT		0.617	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		18	96	0	0	0	1	0	18	96					A	81065297	G	A	81065297	3	1	462	1	0	0	0	0	1	0	0	0	17693	1087	38	1	2428	1	ZMIZ1	10	81065297	Missense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08	1493484	81065297	54469450	22	31350											
LRIT1	26103	broad.mit.edu	37	chr10	85992631	85992631	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcccagcagagtccagctCgtgccgtcactggagacttc	8	7	12	14	2	1	2	1	0	0	2	4	3	2	2	3	2	3	2	3	2	0	1			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:85992631C>T	ENST00000372105.3	-	4	945	c.924G>A	c.(922-924)acG>acA	p.T308T		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	308	Ig-like C2-type.					integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GAGTCCAGCTCGTGCCGTCAC	0.572																																						ENST00000372105.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(922-924)acG>acA		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1							26	25	25					10																	85992631		2181	4278	6459	SO:0001819	synonymous_variant	26103					integral to endoplasmic reticulum membrane		g.chr10:85992631C>T	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.924G>A	10.37:g.85992631C>T							p.T308T	NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN			4	945	-			308			Ig-like C2-type.		Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	c.924G>A	CCDS7373.1																																																																																				0.572	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		8	30	0	0	0	1	0	8	30					T	85992631	C	T	85992631	2	4	462	1	0	0	0	0	0	0	0	1	8947	871	31	2		2	LRIT1	10	85992631	Silent	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08	4927334	85992631	49542116	23	31351											
MORN4	118812	broad.mit.edu	37	chr10	99376049	99376049	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatttctggctgacttggAggcgctctgggcccgctgaa	6	10	15	10	2	2	3	0	2	2	1	2	5	2	4	1	4	0	3	1	4	1	2			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:99376049A>T	ENST00000307450.6	-	5	575	c.412T>A	c.(412-414)Tcc>Acc	p.S138T	MORN4_ENST00000335628.3_Missense_Mutation_p.S196T|PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000478953.1_3'UTR|PI4K2A_ENST00000555577.1_Intron	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	138										large_intestine(1)|lung(1)|stomach(2)	4						GCTGACTTGGAGGCGCTCTGG	0.532																																						ENST00000335628.3																			0				large_intestine(1)|lung(1)|stomach(2)	4						c.(586-588)Tcc>Acc		MORN repeat containing 4							62	59	60					10																	99376049		2203	4300	6503	SO:0001583	missense	118812							g.chr10:99376049A>T	AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"44050 protein"		"chromosome 10 open reading frame 83"	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.412T>A	10.37:g.99376049A>T	ENSP00000307636:p.Ser138Thr					PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000478953.1_3'UTR|PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000307450.6_Missense_Mutation_p.S138T	p.S196T			Q8NDC4	MORN4_HUMAN			4	585	-			138					Q86Y54	Missense_Mutation	SNP	ENST00000307450.6	37	c.586T>A	CCDS7468.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.862519	0.71949	.	.	ENSG00000171160	ENST00000307450;ENST00000515674;ENST00000335628	T;T	0.59638	0.68;0.25	5.03	5.03	0.67393	.	0.057529	0.64402	D	0.000001	T	0.65270	0.2675	L	0.40543	1.245	0.45946	D	0.998771	D;B	0.69078	0.997;0.39	P;B	0.60789	0.879;0.054	T	0.68577	-0.5372	10	0.66056	D	0.02	-11.5381	14.9245	0.70866	1.0:0.0:0.0:0.0	.	196;138	Q8NDC4-2;Q8NDC4	.;MORN4_HUMAN	T	138;138;196	ENSP00000307636:S138T;ENSP00000335498:S196T	ENSP00000307636:S138T	S	-	1	0	MORN4	99366039	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.875000	0.56108	2.119000	0.64992	0.459000	0.35465	TCC		0.532	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049730.1	NM_178832		3	32	0	0	0	1	0	3	32					T	99376049	A	T	99376049	3	4	462	1	0	0	0	0	1	0	0	0	9710	304	11	5	32	5	MORN4	10	99376049	Missense_Mutation	SNP	A	TCGA-YL-A8SK-01B-21D-A377-08	13383418	99376049	36158698	24	31352											
DPYSL4	10570	broad.mit.edu	37	chr10	134017305	134017305	+	Frame_Shift_Del	DEL	G	G	-																															tgccccgtggactgtatgacGggcccgtccacgaggtgatg																								rs61865802		TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:134017305delG	ENST00000338492.4	+	13	1665	c.1501delG	c.(1501-1503)gggfs	p.G501fs	DPYSL4_ENST00000368627.1_Frame_Shift_Del_p.G341fs|DPYSL4_ENST00000368629.1_Frame_Shift_Del_p.G341fs	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	501					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			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)		ACTGTATGACGGGCCCGTCCA	0.711																																						ENST00000338492.4																			0				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						c.(1501-1503)ggfs		dihydropyrimidinase-like 4							57	57	57					10																	134017305		2202	4298	6500	SO:0001589	frameshift_variant	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134017305delG	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1501delG	10.37:g.134017305delG	ENSP00000339850:p.Gly501fs					DPYSL4_ENST00000368627.1_Frame_Shift_Del_p.G341fs|DPYSL4_ENST00000368629.1_Frame_Shift_Del_p.G341fs	p.G501fs	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		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)	13	1665	+		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)	501					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Frame_Shift_Del	DEL	ENST00000338492.4	37	c.1501delG	CCDS7665.1																																																																																				0.711	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			14	61						14	61	---	---	---	---	-	134017305	G	-	134017305	7	5	462	1	0	1	0	1	0	0	0	0	4749	1116	39	0	1551	0	DPYSL4	10	134017305	Frame_Shift_Del	DEL	G	TCGA-YL-A8SK-01B-21D-A377-08	34641256	134017305	1517442	25	31353											
HPS5	11234	broad.mit.edu	37	chr11	18303529	18303529	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcaatcctcaggatatcGcaggttctggtaaacttctc	10	12	8	11	1	4	0	2	0	2	0	7	1	5	1	1	3	2	4	1	3	4	4	rs139039126	byFrequency	TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr11:18303529G>C	ENST00000349215.3	-	22	3574	c.3297C>G	c.(3295-3297)tgC>tgG	p.C1099W	HPS5_ENST00000438420.2_Missense_Mutation_p.C985W|HPS5_ENST00000396253.3_Missense_Mutation_p.C985W|HPS5_ENST00000537258.1_Missense_Mutation_p.C206W|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1099					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCAGGATATCGCAGGTTCTGG	0.498									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(2953-2955)tgC>tgG		Hermansky-Pudlak syndrome 5							130	126	128					11																	18303529		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18303529G>C	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.3297C>G	11.37:g.18303529G>C	ENSP00000265967:p.Cys1099Trp					HPS5_ENST00000349215.3_Missense_Mutation_p.C1099W|HPS5_ENST00000537258.1_Missense_Mutation_p.C206W|HPS5_ENST00000438420.2_Missense_Mutation_p.C985W|HPS5_ENST00000352460.3_5'UTR	p.C985W	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			21	3417	-			1099					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.2955C>G	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	g	11.72	1.723164	0.30503	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000537258	T;T;T	0.61158	0.13;0.13;0.2	4.82	-9.02	0.00741	.	0.048296	0.85682	D	0.000000	T	0.64692	0.2621	L	0.50333	1.59	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.78178	-0.2305	10	0.72032	D	0.01	.	18.6972	0.91605	0.7729:0.0:0.2271:0.0	.	1099	Q9UPZ3	HPS5_HUMAN	W	985;985;1099;206	ENSP00000379552:C985W;ENSP00000399590:C985W;ENSP00000265967:C1099W	ENSP00000265967:C1099W	C	-	3	2	HPS5	18260105	0.000000	0.05858	0.163000	0.22734	0.449000	0.32228	-3.536000	0.00438	-1.711000	0.01395	-1.128000	0.01989	TGC		0.498	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		17	71	0	0	0	1	0	17	71					C	18303529	G	C	18303529	3	2	462	1	0	0	0	0	1	0	0	0	7342	1079	38	5	100	5	HPS5	11	18303529	Missense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08		18303529	116702987	26	31354											
SIDT2	51092	broad.mit.edu	37	chr11	117052521	117052521	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctccctgcttcgggccatAggtttcagcgcaagtacctc	7	11	9	14	2	2	0	1	0	1	0	5	0	2	0	3	2	3	4	3	2	3	4			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr11:117052521A>G	ENST00000324225.4	+	3	836		c.e3-1		SIDT2_ENST00000530948.1_Splice_Site|SIDT2_ENST00000431081.2_Splice_Site	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2						cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTCGGGCCATAGGTTTCAGCG	0.592											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000324225.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.e3-1		SID1 transmembrane family, member 2							80	81	81					11																	117052521		2201	4296	6497	SO:0001630	splice_region_variant	51092					integral to membrane|lysosomal membrane		g.chr11:117052521A>G	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.306-1A>G	11.37:g.117052521A>G			OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1478	SIDT2_ENST00000530948.1_Splice_Site|SIDT2_ENST00000431081.2_Splice_Site		NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	3	836	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)						Q8NBY7|Q9Y357	Splice_Site	SNP	ENST00000324225.4	37		CCDS31682.1	.	.	.	.	.	.	.	.	.	.	A	19.50	3.840103	0.71488	.	.	ENSG00000149577	ENST00000324225;ENST00000532960;ENST00000525347;ENST00000278951;ENST00000431081;ENST00000531353	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1236	0.72465	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SIDT2	116557731	1.000000	0.71417	0.966000	0.40874	0.853000	0.48598	7.929000	0.87595	2.161000	0.67846	0.459000	0.35465	.		0.592	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996	Intron	3	55	0	0	0	1	0	3	55					G	117052521	A	G	117052521	5	3	462	1	0	0	0	0	0	0	1	0	14303	434	15	4	314	4	SIDT2	11	117052521	Splice_Site	SNP	A	TCGA-YL-A8SK-01B-21D-A377-08	98748992	117052521	17953995	27	31355											
ATN1	1822	broad.mit.edu	37	chr12	7048124	7048124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagcctggggcccctggagCgagaacgtctagcgctggca	7	5	16	13	4	1	1	0	0	1	1	1	4	1	2	3	4	4	2	3	4	2	1			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr12:7048124C>G	ENST00000356654.4	+	7	3235	c.2998C>G	c.(2998-3000)Cga>Gga	p.R1000G	ATN1_ENST00000396684.2_Missense_Mutation_p.R1000G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1000					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			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						GCCCCTGGAGCGAGAACGTCT	0.682																																						ENST00000356654.4																			0				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						c.(2998-3000)Cga>Gga		atrophin 1							46	55	52					12																	7048124		2203	4298	6501	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7048124C>G	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2998C>G	12.37:g.7048124C>G	ENSP00000349076:p.Arg1000Gly					ATN1_ENST00000396684.2_Missense_Mutation_p.R1000G	p.R1000G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			7	3235	+			1000					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.2998C>G	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360027	0.41801	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.70631	-0.5;-0.5;-0.5	4.82	2.81	0.32909	.	0.000000	0.30620	U	0.009237	T	0.77184	0.4093	L	0.57536	1.79	0.47245	D	0.999362	D	0.57899	0.981	P	0.57283	0.817	T	0.79152	-0.1921	10	0.72032	D	0.01	.	14.0698	0.64852	0.5728:0.4272:0.0:0.0	.	1000	P54259	ATN1_HUMAN	G	1000;1000;1000;585	ENSP00000349076:R1000G;ENSP00000379915:R1000G;ENSP00000441744:R1000G	ENSP00000229279:R585G	R	+	1	2	ATN1	6918385	0.996000	0.38824	0.993000	0.49108	0.132000	0.20833	0.558000	0.23469	0.618000	0.30179	0.650000	0.86243	CGA		0.682	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		22	84	0	0	0	1	0	22	84					G	7048124	C	G	7048124	3	3	462	1	0	0	0	0	1	0	0	0	1111	760	27	5	3020	5	ATN1	12	7048124	Missense_Mutation	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08		7048124	126803771	28	31356											
C12orf12	196477	broad.mit.edu	37	chr12	91347894	91347894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcagcgcctcctgctgaCgctccaccttctcctgctgc	3	9	8	21	3	1	1	0	1	1	0	4	1	3	1	6	0	4	4	6	0	0	1			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr12:91347894C>T	ENST00000358859.2	-	1	1059	c.626G>A	c.(625-627)cGt>cAt	p.R209H	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	209																	CTCCTGCTGACGCTCCACCTT	0.647																																						ENST00000358859.2																			0											c.(625-627)cGt>cAt		coiled-coil glutamate-rich protein 1							81	85	84					12																	91347894		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347894C>T	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.626G>A	12.37:g.91347894C>T	ENSP00000351727:p.Arg209His					CCER1_ENST00000548187.1_Intron	p.R209H	NM_152638.2	NP_689851.1					1	1059	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.626G>A	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248913	0.39797	.	.	ENSG00000197651	ENST00000358859	T	0.36157	1.27	4.46	3.57	0.40892	.	0.000000	0.35040	N	0.003497	T	0.42494	0.1205	L	0.27053	0.805	0.28195	N	0.927583	D	0.89917	1.0	D	0.87578	0.998	T	0.19095	-1.0316	10	0.72032	D	0.01	-17.1838	8.0531	0.30589	0.0:0.7542:0.0:0.2458	.	209	Q8TC90	CL012_HUMAN	H	209	ENSP00000351727:R209H	ENSP00000351727:R209H	R	-	2	0	C12orf12	89872025	1.000000	0.71417	1.000000	0.80357	0.101000	0.19017	1.232000	0.32636	1.096000	0.41439	-0.355000	0.07637	CGT		0.647	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		12	95	0	0	0	1	0	12	95					T	91347894	C	T	91347894	3	4	462	1	0	0	0	0	1	0	0	0	1676	536	19	1	598	1	C12orf12	12	91347894	Missense_Mutation	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08	84299770	91347894	42504001	29	31357											
RIPK3	11035	broad.mit.edu	37	chr14	24806111	24806111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttactggatttggctccGgggtcctgcaggaccagttc	5	12	13	11	1	0	0	0	0	0	0	3	2	2	2	3	5	2	4	3	5	1	3			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr14:24806111G>A	ENST00000216274.5	-	9	1534	c.1316C>T	c.(1315-1317)cCg>cTg	p.P439L	RIPK3_ENST00000554338.1_5'Flank|ADCY4_ENST00000396747.3_5'Flank|RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.P113L|ADCY4_ENST00000310677.4_5'Flank|ADCY4_ENST00000554068.2_5'Flank|ADCY4_ENST00000418030.2_5'Flank|ADCY4_ENST00000558563.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	439	Pro-rich.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		ATTTGGCTCCGGGGTCCTGCA	0.537																																					Pancreas(58;918 1191 4668 13304 15331)	ENST00000216274.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1315-1317)cCg>cTg		receptor-interacting serine-threonine kinase 3							119	114	116					14																	24806111		2203	4300	6503	SO:0001583	missense	11035				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	g.chr14:24806111G>A	AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.1316C>T	14.37:g.24806111G>A	ENSP00000216274:p.Pro439Leu					RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.P113L	p.P439L	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	9	1534	-			439					B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Missense_Mutation	SNP	ENST00000216274.5	37	c.1316C>T	CCDS9628.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.48|10.48	1.361593|1.361593	0.24684|0.24684	.|.	.|.	ENSG00000258973;ENSG00000129465|ENSG00000129465	ENST00000555591;ENST00000216274|ENST00000554569	T|.	0.51325|.	0.71|.	4.17|4.17	2.32|2.32	0.28847|0.28847	.|.	1.012730|.	0.07923|.	N|.	0.976287|.	T|T	0.27454|0.27454	0.0674|0.0674	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	B;B|.	0.24132|.	0.098;0.06|.	B;B|.	0.18871|.	0.023;0.019|.	T|T	0.19712|0.19712	-1.0297|-1.0297	10|5	0.72032|.	D|.	0.01|.	0.1652|0.1652	5.9923|5.9923	0.19474|0.19474	0.1039:0.1916:0.7044:0.0|0.1039:0.1916:0.7044:0.0	.|.	113;439|.	G3V2L1;Q9Y572|.	.;RIPK3_HUMAN|.	L|W	113;439|120	ENSP00000216274:P439L|.	ENSP00000216274:P439L|.	P|R	-|-	2|1	0|2	RIPK3;RP11-934B9.3|RIPK3	23875951|23875951	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.594000|0.594000	0.24014|0.24014	0.692000|0.692000	0.31613|0.31613	-0.885000|-0.885000	0.02943|0.02943	CCG|CGG		0.537	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		29	73	0	0	0	1	0	29	73					A	24806111	G	A	24806111	3	1	462	1	0	0	0	0	1	0	0	0	13382	1116	39	2	248	2	RIPK3	14	24806111	Missense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08		24806111	82543429	30	31358											
TP53BP1	7158	broad.mit.edu	37	chr15	43701149	43701149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctggcaacagataattaCggtagttctggagctggttg	10	11	13	7	1	1	1	0	0	1	1	1	2	1	2	0	4	4	6	0	4	4	5			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr15:43701149C>T	ENST00000263801.3	-	26	5783	c.5531G>A	c.(5530-5532)cGt>cAt	p.R1844H	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1849H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1847H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1799H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1844	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			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)		CAGATAATTACGGTAGTTCTG	0.502								Other conserved DNA damage response genes																														ENST00000263801.3																			0				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						c.(5530-5532)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							136	120	126					15																	43701149		2201	4298	6499	SO:0001583	missense	7158				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	g.chr15:43701149C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5531G>A	15.37:g.43701149C>T	ENSP00000263801:p.Arg1844His					TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1847H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1799H|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1849H	p.R1844H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	26	5783	-		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)	1844			BRCT 1.		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.5531G>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833978	0.91036	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	5.34	5.34	0.76211	BRCT (2);	0.000000	0.85682	D	0.000000	D	0.92417	0.7593	M	0.70595	2.14	0.54753	D	0.999986	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.992;0.977;0.996	D	0.92721	0.6191	10	0.72032	D	0.01	-9.1651	13.6975	0.62589	0.0:0.9255:0.0:0.0745	.	1844;1849;1847	Q12888;Q12888-2;F8VY86	TP53B_HUMAN;.;.	H	1844;1849;1799;1847	ENSP00000263801:R1844H;ENSP00000371475:R1849H;ENSP00000371470:R1799H;ENSP00000393497:R1847H	ENSP00000263801:R1844H	R	-	2	0	TP53BP1	41488441	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.567000	0.53813	2.659000	0.90383	0.650000	0.86243	CGT		0.502	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			14	67	0	0	0	1	0	14	67					T	43701149	C	T	43701149	3	4	462	1	0	0	0	0	1	0	0	0	16380	536	19	1	399	1	TP53BP1	15	43701149	Missense_Mutation	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08		43701149	58830243	31	31359											
MAP1A	4130	broad.mit.edu	37	chr15	43817506	43817506	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatactctgcacagacagacAtcacagatgacagccttgac	14	7	8	12	0	2	5	1	2	1	3	2	6	2	5	1	0	3	1	1	0	1	2			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr15:43817506A>G	ENST00000300231.5	+	4	4285	c.3835A>G	c.(3835-3837)Atc>Gtc	p.I1279V	MAP1A_ENST00000399453.1_Missense_Mutation_p.I1279V|MAP1A_ENST00000382031.1_Missense_Mutation_p.I1517V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1279					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			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)	ACAGACAGACATCACAGATGA	0.542																																						ENST00000382031.1																			0				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						c.(4549-4551)Atc>Gtc		microtubule-associated protein 1A	Estramustine(DB01196)						94	103	100					15																	43817506		2139	4260	6399	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43817506A>G	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3835A>G	15.37:g.43817506A>G	ENSP00000300231:p.Ile1279Val					MAP1A_ENST00000399453.1_Missense_Mutation_p.I1279V|MAP1A_ENST00000300231.5_Missense_Mutation_p.I1279V	p.I1517V			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	4580	+		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)	1279					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.4549A>G	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	A	9.213	1.031437	0.19590	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01335	5.0;5.01;5.01	4.89	-8.13	0.01073	.	.	.	.	.	T	0.01254	0.0041	M	0.62723	1.935	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49263	-0.8958	9	0.17369	T	0.5	0.0	1.1362	0.01755	0.141:0.2854:0.2147:0.3589	.	1279	P78559	MAP1A_HUMAN	V	1517;1279;1279	ENSP00000371462:I1517V;ENSP00000382380:I1279V;ENSP00000300231:I1279V	ENSP00000300231:I1279V	I	+	1	0	MAP1A	41604798	0.000000	0.05858	0.006000	0.13384	0.170000	0.22686	-0.999000	0.03697	-0.997000	0.03450	-0.490000	0.04691	ATC		0.542	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		4	39	0	0	0	1	0	4	39					G	43817506	A	G	43817506	3	3	462	1	0	0	0	0	1	0	0	0	9227	217	8	4	3837	4	MAP1A	15	43817506	Missense_Mutation	SNP	A	TCGA-YL-A8SK-01B-21D-A377-08	116357	43817506	58713886	32	31360											
TSC2	7249	broad.mit.edu	37	chr16	2121840	2121840	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccctttctcctcccacaGggcctcctggcccggcgcct	2	8	9	22	2	1	0	0	0	1	0	4	0	3	0	8	3	0	0	8	3	0	1			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr16:2121840G>T	ENST00000219476.3	+	19	2632	c.2002G>T	c.(2002-2004)Ggg>Tgg	p.G668W	TSC2_ENST00000568454.1_Missense_Mutation_p.G679W|TSC2_ENST00000382538.6_Missense_Mutation_p.G619W|TSC2_ENST00000353929.4_Missense_Mutation_p.G668W|TSC2_ENST00000350773.4_Missense_Mutation_p.G668W|TSC2_ENST00000439673.2_Missense_Mutation_p.G631W|TSC2_ENST00000401874.2_Missense_Mutation_p.G668W	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	668					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			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)				TCCTCCCACAGGGCCTCCTGG	0.677			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				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						c.(2002-2004)Ggg>Tgg		tuberous sclerosis 2							7	9	8					16																	2121840		2176	4270	6446	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	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	g.chr16:2121840G>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2002G>T	16.37:g.2121840G>T	ENSP00000219476:p.Gly668Trp					TSC2_ENST00000382538.6_Missense_Mutation_p.G619W|TSC2_ENST00000401874.2_Missense_Mutation_p.G668W|TSC2_ENST00000568454.1_Missense_Mutation_p.G679W|TSC2_ENST00000439673.2_Missense_Mutation_p.G631W|TSC2_ENST00000350773.4_Missense_Mutation_p.G668W|TSC2_ENST00000353929.4_Missense_Mutation_p.G668W	p.G668W	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			19	2632	+		Hepatocellular(780;0.0202)	668					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.2002G>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382913	0.61845	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.45	5.45	0.79879	Tuberin-type domain (1);	0.000000	0.85682	D	0.000000	D	0.92237	0.7538	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.998;1.0;0.995;1.0	D	0.92444	0.5964	10	0.59425	D	0.04	-43.8667	17.4582	0.87613	0.0:0.0:1.0:0.0	.	619;631;668;668;668;668	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	W	668;668;668;631;619;668	ENSP00000219476:G668W;ENSP00000384468:G668W;ENSP00000248099:G668W;ENSP00000399232:G631W;ENSP00000371978:G619W;ENSP00000344383:G668W	ENSP00000219476:G668W	G	+	1	0	TSC2	2061841	1.000000	0.71417	0.422000	0.26621	0.010000	0.07245	9.153000	0.94687	2.551000	0.86045	0.462000	0.41574	GGG		0.677	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		4	7	1	0	0.00909568	1	0.00909568	4	7					T	2121840	G	T	2121840	3	4	462	1	0	0	0	0	1	0	0	0	16603	1000	35	5	2072	5	TSC2	16	2121840	Missense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08		2121840	88232913	33	31361											
USP31	57478	broad.mit.edu	37	chr16	23116855	23116855	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacaccaatcctcatgcaGtgagaacatttgccttgata	12	10	7	12	0	1	2	1	2	0	1	2	3	2	2	4	0	3	1	4	0	3	3			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr16:23116855G>C	ENST00000219689.7	-	5	995	c.996C>G	c.(994-996)caC>caG	p.H332Q		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCCTCATGCAGTGAGAACATT	0.433																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(994-996)caC>caG		ubiquitin specific peptidase 31							117	94	102					16																	23116855		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23116855G>C	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.996C>G	16.37:g.23116855G>C	ENSP00000219689:p.His332Gln						p.H332Q	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	5	995	-			332					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.996C>G	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630092	0.67015	.	.	ENSG00000103404	ENST00000219689	T	0.07688	3.17	4.69	3.72	0.42706	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.122893	0.53938	D	0.000057	T	0.13884	0.0336	L	0.35414	1.06	0.80722	D	1	D	0.60575	0.988	P	0.60012	0.867	T	0.07028	-1.0794	10	0.27785	T	0.31	-13.3742	12.1731	0.54169	0.0842:0.0:0.9158:0.0	.	332	Q70CQ4	UBP31_HUMAN	Q	332	ENSP00000219689:H332Q	ENSP00000219689:H332Q	H	-	3	2	USP31	23024356	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.266000	0.65525	2.157000	0.67596	0.655000	0.94253	CAC		0.433	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		6	60	0	0	0	1	0	6	60					C	23116855	G	C	23116855	3	2	462	1	0	0	0	0	1	0	0	0	17059	1020	36	5	3110	5	USP31	16	23116855	Missense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08	20995015	23116855	67237898	34	31362											
EPX	8288	broad.mit.edu	37	chr17	56274319	56274319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcccacccaatgacccccGcatcaagaaccagcgtgact	12	5	7	17	2	1	3	1	2	0	1	2	4	2	3	5	0	2	1	5	0	3	0			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr17:56274319G>A	ENST00000225371.5	+	7	931	c.821G>A	c.(820-822)cGc>cAc	p.R274H		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	274					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	AATGACCCCCGCATCAAGAAC	0.567																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(820-822)cGc>cAc		eosinophil peroxidase							146	130	135					17																	56274319		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56274319G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.821G>A	17.37:g.56274319G>A	ENSP00000225371:p.Arg274His						p.R274H	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			7	931	+			274					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.821G>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659759	0.88154	.	.	ENSG00000121053	ENST00000225371	T	0.73258	-0.73	4.86	4.86	0.63082	.	0.051148	0.85682	D	0.000000	D	0.84009	0.5378	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86319	0.1691	10	0.87932	D	0	-17.6383	15.8515	0.78934	0.0:0.0:1.0:0.0	.	274	P11678	PERE_HUMAN	H	274	ENSP00000225371:R274H	ENSP00000225371:R274H	R	+	2	0	EPX	53629318	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	7.750000	0.85110	2.408000	0.81797	0.462000	0.41574	CGC		0.567	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		4	82	0	0	0	1	0	4	82					A	56274319	G	A	56274319	3	1	462	1	0	0	0	0	1	0	0	0	5200	1087	38	1	847	1	EPX	17	56274319	Missense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08		56274319	24920891	35	31363											
DSG4	147409	broad.mit.edu	37	chr18	28992796	28992796	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttttaattttagaaagcGtatgcttatgcagatgaaga	13	15	8	5	1	0	4	0	1	0	3	1	4	1	4	1	0	3	3	1	0	6	6			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr18:28992796G>A	ENST00000308128.4	+	16	2496	c.2361G>A	c.(2359-2361)gcG>gcA	p.A787A	DSG4_ENST00000359747.4_Silent_p.A806A|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	787					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTTAGAAAGCGTATGCTTATG	0.398																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2416-2418)gcG>gcA		desmoglein 4							62	59	60					18																	28992796		2203	4300	6503	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28992796G>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2361G>A	18.37:g.28992796G>A						RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.A787A|RP11-534N16.1_ENST00000581856.1_RNA	p.A806A	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2447	+			787					A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.2418G>A	CCDS11897.1																																																																																				0.398	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		16	51	0	0	0	1	0	16	51					A	28992796	G	A	28992796	2	1	462	1	0	0	0	0	0	0	0	1	4779	1132	40	1		1	DSG4	18	28992796	Silent	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08		28992796	49084452	36	31364											
ZNF407	55628	broad.mit.edu	37	chr18	72344424	72344424	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaacacctggaagcgtgCagcagtgtgcagagagtgtg	11	7	15	8	1	0	2	0	1	0	1	0	4	0	3	1	1	5	3	1	1	2	0			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr18:72344424C>T	ENST00000299687.5	+	1	1449	c.1449C>T	c.(1447-1449)tgC>tgT	p.C483C	ZNF407_ENST00000309902.6_Silent_p.C483C|ZNF407_ENST00000582337.1_Silent_p.C483C|ZNF407_ENST00000577538.1_Silent_p.C483C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)		TGGAAGCGTGCAGCAGTGTGC	0.527																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(1447-1449)tgC>tgT		zinc finger protein 407							46	51	49					18																	72344424		2110	4229	6339	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72344424C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1449C>T	18.37:g.72344424C>T						ZNF407_ENST00000577538.1_Silent_p.C483C|ZNF407_ENST00000309902.6_Silent_p.C483C|ZNF407_ENST00000582337.1_Silent_p.C483C	p.C483C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	1449	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	483					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.1449C>T	CCDS45885.1																																																																																				0.527	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		6	33	0	0	0	1	0	6	33					T	72344424	C	T	72344424	2	4	462	1	0	0	0	0	0	0	0	1	17884	718	25	3		3	ZNF407	18	72344424	Silent	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08	43351628	72344424	5732824	37	31365											
ZNF420	147923	broad.mit.edu	37	chr19	37619569	37619569	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatactggtgagaaaccatAtcaatgtaaggaatgtggga	15	10	11	5	0	2	1	2	1	0	1	2	4	2	3	1	3	2	1	1	3	6	3			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:37619569A>G	ENST00000337995.3	+	5	1891	c.1676A>G	c.(1675-1677)tAt>tGt	p.Y559C	CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000586540.1_3'UTR|ZNF420_ENST00000304239.7_Intron|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	559					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAAACCATATCAATGTAAG	0.418																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(1675-1677)tAt>tGt		zinc finger protein 420							85	82	83					19																	37619569		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37619569A>G	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"Zinc fingers, C2H2-type", "-"	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1676A>G	19.37:g.37619569A>G	ENSP00000338770:p.Tyr559Cys					ZNF420_ENST00000304239.7_Intron|ZNF420_ENST00000586540.1_3'UTR|ZNF585A_ENST00000588723.1_Intron	p.Y559C	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1891	+			559					B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.1676A>G	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.475659	0.26511	.	.	ENSG00000197050	ENST00000337995	T	0.25414	1.8	4.35	0.945	0.19543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45478	0.1344	M	0.78344	2.41	0.18873	N	0.999982	D	0.89917	1.0	D	0.91635	0.999	T	0.23619	-1.0183	8	.	.	.	.	4.6931	0.12790	0.4503:0.0:0.086:0.4637	.	559	Q8TAQ5	ZN420_HUMAN	C	559	ENSP00000338770:Y559C	.	Y	+	2	0	ZNF420	42311409	0.000000	0.05858	0.040000	0.18447	0.934000	0.57294	-0.302000	0.08221	-0.096000	0.12329	-0.438000	0.05819	TAT		0.418	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		4	59	0	0	0	1	0	4	59					G	37619569	A	G	37619569	3	3	462	1	0	0	0	0	1	0	0	0	17894	449	16	4	1686	4	ZNF420	19	37619569	Missense_Mutation	SNP	A	TCGA-YL-A8SK-01B-21D-A377-08		37619569	21509414	38	31366											
LILRB3	11025	broad.mit.edu	37	chr19	54721088	54721088	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggcgtaggtcacatcctgGgaggcttcagatgcagcagc	8	8	15	10	1	2	1	2	0	0	1	3	2	3	2	1	4	3	4	1	4	1	2			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:54721088G>T	ENST00000391750.1	-	14	1906	c.1770C>A	c.(1768-1770)tcC>tcA	p.S590S	LILRA6_ENST00000440558.2_Silent_p.S590S|LILRA6_ENST00000419410.2_Silent_p.S591S|LILRB3_ENST00000407860.2_Silent_p.S607S|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000346401.6_Silent_p.S602S|LILRB3_ENST00000245620.9_Silent_p.S591S|LILRA6_ENST00000270464.5_Silent_p.S591S|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000424807.1_Silent_p.S590S			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	590					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACATCCTGGGAGGCTTCAG	0.637																																						ENST00000391750.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(1768-1770)tcC>tcA		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3							80	85	83					19																	54721088		2203	4300	6503	SO:0001819	synonymous_variant	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54721088G>T	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1770C>A	19.37:g.54721088G>T						LILRB3_ENST00000424807.1_Silent_p.S590S|LILRA6_ENST00000419410.2_Silent_p.S591S|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000245620.9_Silent_p.S591S|LILRA6_ENST00000270464.5_Silent_p.S591S|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Silent_p.S607S|LILRB3_ENST00000346401.6_Silent_p.S602S|LILRA6_ENST00000440558.2_Silent_p.S590S	p.S590S			O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	14	1906	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		590					C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	c.1770C>A	CCDS33105.1																																																																																				0.637	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		14	45	1	0	1.5842e-08	1	1.71094e-08	14	45					T	54721088	G	T	54721088	2	4	462	1	0	0	0	0	0	0	0	1	8792	1219	43	5		5	LILRB3	19	54721088	Silent	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08	17101519	54721088	4407895	39	31367											
PTPRH	5794	broad.mit.edu	37	chr19	55693512	55693512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggttcctgtgcgacccaCgccagcactaggcagaacaa	11	5	12	13	2	0	1	0	0	0	1	1	3	1	1	3	2	3	3	3	2	3	2			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:55693512C>T	ENST00000376350.3	-	19	3092	c.3070G>A	c.(3070-3072)Gtg>Atg	p.V1024M	SYT5_ENST00000537500.1_5'Flank|SYT5_ENST00000354308.3_5'Flank|PTPRH_ENST00000263434.5_Missense_Mutation_p.V846M|SYT5_ENST00000590851.1_5'Flank	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1024	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			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)		GTGCGACCCACGCCAGCACTA	0.587																																						ENST00000376350.3																			0				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						c.(3070-3072)Gtg>Atg		protein tyrosine phosphatase, receptor type, H							72	73	73					19																	55693512		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55693512C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3070G>A	19.37:g.55693512C>T	ENSP00000365528:p.Val1024Met					PTPRH_ENST00000263434.5_Missense_Mutation_p.V846M	p.V1024M	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	19	3092	-		Renal(1328;0.245)	1024			Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.3070G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593873	0.86953	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	D;D	0.85339	-1.97;-1.97	4.86	4.86	0.63082	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.33938	N	0.004405	D	0.94558	0.8247	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96016	0.9005	10	0.87932	D	0	.	17.184	0.86862	0.0:1.0:0.0:0.0	.	846;1024	C9JCH2;Q9HD43	.;PTPRH_HUMAN	M	1024;846	ENSP00000365528:V1024M;ENSP00000263434:V846M	ENSP00000263434:V846M	V	-	1	0	PTPRH	60385324	1.000000	0.71417	0.996000	0.52242	0.741000	0.42261	4.522000	0.60539	2.431000	0.82371	0.650000	0.86243	GTG		0.587	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			17	64	0	0	0	1	0	17	64					T	55693512	C	T	55693512	3	4	462	1	0	0	0	0	1	0	0	0	12803	536	19	1	285	1	PTPRH	19	55693512	Missense_Mutation	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08	972424	55693512	3435471	40	31368											
ZNF471	57573	broad.mit.edu	37	chr19	57036932	57036932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaaaagcttttagaatcaGttcacagctggctactcatc	12	12	8	9	0	3	1	3	0	0	1	4	2	3	2	0	2	3	4	0	2	5	4			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:57036932G>T	ENST00000308031.5	+	5	1629	c.1496G>T	c.(1495-1497)aGt>aTt	p.S499I	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TTTAGAATCAGTTCACAGCTG	0.378																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000308031.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1495-1497)aGt>aTt		zinc finger protein 471							56	59	58					19																	57036932		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57036932G>T	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1496G>T	19.37:g.57036932G>T	ENSP00000309161:p.Ser499Ile					ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	p.S499I	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1629	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	499					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.1496G>T	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	9.918	1.211425	0.22289	.	.	ENSG00000196263	ENST00000308031	T	0.10288	2.89	3.51	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09730	0.0239	M	0.73372	2.23	0.09310	N	1	P	0.44946	0.846	B	0.29267	0.1	T	0.24764	-1.0151	9	0.35671	T	0.21	.	8.7518	0.34620	0.2046:0.0:0.7954:0.0	.	499	Q9BX82	ZN471_HUMAN	I	499	ENSP00000309161:S499I	ENSP00000309161:S499I	S	+	2	0	ZNF471	61728744	0.000000	0.05858	0.335000	0.25508	0.949000	0.60115	-0.415000	0.07106	0.681000	0.31386	0.462000	0.41574	AGT		0.378	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		17	45	1	0	4.7546e-09	1	5.23977e-09	17	45					T	57036932	G	T	57036932	3	4	462	1	0	0	0	0	1	0	0	0	17927	1029	36	5	1510	5	ZNF471	19	57036932	Missense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08	1343420	57036932	2092051	41	31369											
KIAA0406	9675	broad.mit.edu	37	chr20	36627645	36627645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtgagtcggtgaacgagcGagggccaggcctgatgagcc	8	6	18	9	3	0	4	0	4	0	0	1	6	0	4	3	3	3	0	3	3	1	0			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr20:36627645G>A	ENST00000373448.2	-	6	2976	c.2738C>T	c.(2737-2739)tCg>tTg	p.S913L	TTI1_ENST00000373447.3_Missense_Mutation_p.S913L|TTI1_ENST00000449821.1_Missense_Mutation_p.S913L	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	913					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GTGAACGAGCGAGGGCCAGGC	0.562																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(2737-2739)tCg>tTg		TELO2 interacting protein 1							109	95	100					20																	36627645		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36627645G>A	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2738C>T	20.37:g.36627645G>A	ENSP00000362547:p.Ser913Leu					TTI1_ENST00000449821.1_Missense_Mutation_p.S913L|TTI1_ENST00000373447.3_Missense_Mutation_p.S913L	p.S913L	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			6	2976	-			913					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.2738C>T	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762164	0.49468	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.58060	0.36;0.36;0.36	4.59	4.59	0.56863	Armadillo-like helical (1);Armadillo-type fold (1);	0.498441	0.21991	N	0.066142	T	0.44808	0.1311	L	0.60455	1.87	0.32407	N	0.551212	B	0.27229	0.172	B	0.23018	0.043	T	0.49634	-0.8919	10	0.11485	T	0.65	-0.2922	12.4521	0.55682	0.0:0.1687:0.8313:0.0	.	913	O43156	TTI1_HUMAN	L	913	ENSP00000362547:S913L;ENSP00000362546:S913L;ENSP00000407270:S913L	ENSP00000362546:S913L	S	-	2	0	TTI1	36061059	0.985000	0.35326	0.904000	0.35570	0.553000	0.35397	4.910000	0.63321	2.379000	0.81126	0.563000	0.77884	TCG		0.562	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		10	43	0	0	0	1	0	10	43					A	36627645	G	A	36627645	3	1	462	1	0	0	0	0	1	0	0	0	8173	1059	37	2	547	2	KIAA0406	20	36627645	Missense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08		36627645	26397875	42	31370											
PKNOX1	5316	broad.mit.edu	37	chr21	44433259	44433259	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgcaaagatttctgcagtCgatacattgcttgtctgaaa	11	14	8	8	1	3	2	0	1	3	1	4	3	3	2	0	0	4	3	0	0	3	4			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr21:44433259C>T	ENST00000291547.5	+	5	644	c.433C>T	c.(433-435)Cga>Tga	p.R145*	PKNOX1_ENST00000432907.2_Nonsense_Mutation_p.R28*	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	145					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						TTTCTGCAGTCGATACATTGC	0.428																																						ENST00000291547.5																			0				cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						c.(433-435)Cga>Tga		PBX/knotted 1 homeobox 1							126	123	124					21																	44433259		2203	4300	6503	SO:0001587	stop_gained	5316						sequence-specific DNA binding	g.chr21:44433259C>T		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"Homeoboxes / TALE class"	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.433C>T	21.37:g.44433259C>T	ENSP00000291547:p.Arg145*					PKNOX1_ENST00000432907.2_Nonsense_Mutation_p.R28*	p.R145*	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN			5	644	+			145					O00528|Q8IWT7	Nonsense_Mutation	SNP	ENST00000291547.5	37	c.433C>T	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	C	39	7.436778	0.98282	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	.	.	.	5.68	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9296	14.8384	0.70201	0.0:0.9308:0.0:0.0692	.	.	.	.	X	145;28	.	ENSP00000291547:R145X	R	+	1	2	PKNOX1	43306328	1.000000	0.71417	0.506000	0.27664	0.940000	0.58332	7.415000	0.80131	1.406000	0.46857	0.561000	0.74099	CGA		0.428	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			18	87	0	0	0	1	0	18	87					T	44433259	C	T	44433259	4	4	462	1	0	0	0	0	0	1	0	0	11982	876	31	2	447	2	PKNOX1	21	44433259	Nonsense_Mutation	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08		44433259	3696636	43	31371											
SSX3	10214	broad.mit.edu	37	chrX	48207020	48207020	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagtctgtgggtccaggcAtgttccccccttttgggtcc	3	12	12	14	1	1	0	0	0	1	0	4	0	4	0	5	3	0	3	5	3	0	3			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chrX:48207020A>T	ENST00000298396.2	-	7	538	c.486T>A	c.(484-486)caT>caA	p.H162Q	SSX3_ENST00000376895.1_Missense_Mutation_p.H74Q	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						GGGTCCAGGCATGTTCCCCCC	0.478																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(484-486)caT>caA		synovial sarcoma, X breakpoint 3							259	234	242					X																	48207020		2203	4297	6500	SO:0001583	missense	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48207020A>T	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.486T>A	X.37:g.48207020A>T	ENSP00000298396:p.His162Gln					SSX3_ENST00000376895.1_Missense_Mutation_p.H74Q	p.H162Q	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN			7	538	-			162					O60223|Q5JQZ3|Q9BRW7	Missense_Mutation	SNP	ENST00000298396.2	37	c.486T>A	CCDS14291.1	.	.	.	.	.	.	.	.	.	.	a	12.40	1.927391	0.34002	.	.	ENSG00000165584	ENST00000298396;ENST00000376895	T;T	0.32023	3.14;1.47	1.86	-0.931	0.10438	SSXRD motif (1);	2.040690	0.02170	N	0.059583	T	0.29190	0.0726	N	0.22421	0.69	0.09310	N	1	P	0.50272	0.933	P	0.53146	0.719	T	0.07908	-1.0748	10	0.46703	T	0.11	.	1.5181	0.02510	0.4783:0.0:0.212:0.3098	.	162	Q99909	SSX3_HUMAN	Q	162;74	ENSP00000298396:H162Q;ENSP00000366092:H74Q	ENSP00000298396:H162Q	H	-	3	2	SSX3	48091964	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-0.313000	0.08103	-0.316000	0.08690	0.293000	0.19593	CAT		0.478	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		66	112	0	0	0	1	0	66	112					T	48207020	A	T	48207020	3	4	462	1	0	0	0	0	1	0	0	0	15204	214	8	5	84	5	SSX3	23	48207020	Missense_Mutation	SNP	A	TCGA-YL-A8SK-01B-21D-A377-08		48207020	107063540	44	31372											
CLSTN1	22883	broad.mit.edu	37	chr1	9804060	9804060	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagtagtggtgccgattcAtatctgcaaaggcagtttct	9	12	13	7	1	3	0	1	0	2	0	3	2	3	1	1	3	2	4	1	3	3	4			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:9804060A>T	ENST00000377298.4	-	9	2030	c.1238T>A	c.(1237-1239)aTg>aAg	p.M413K	CLSTN1_ENST00000377288.3_Missense_Mutation_p.M413K|CLSTN1_ENST00000361311.4_Missense_Mutation_p.M403K	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	413					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			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)		GTGCCGATTCATATCTGCAAA	0.438																																						ENST00000377298.4																			0				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						c.(1237-1239)aTg>aAg		calsyntenin 1							88	95	93					1																	9804060		2203	4300	6503	SO:0001583	missense	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9804060A>T	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1238T>A	1.37:g.9804060A>T	ENSP00000366513:p.Met413Lys					CLSTN1_ENST00000361311.4_Missense_Mutation_p.M403K|CLSTN1_ENST00000377288.3_Missense_Mutation_p.M413K	p.M413K	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		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)	9	2030	-	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)	413					A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	c.1238T>A	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.009951	0.75046	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.02067	4.47;4.47;4.47;4.47	5.66	4.51	0.55191	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.037233	0.85682	D	0.000000	T	0.08537	0.0212	M	0.69248	2.105	0.80722	D	1	D;D;D	0.61080	0.989;0.986;0.989	P;P;P	0.58721	0.844;0.758;0.844	T	0.03221	-1.1059	10	0.51188	T	0.08	-46.8057	13.0661	0.59034	0.8657:0.1343:0.0:0.0	.	413;403;413	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	K	413;403;233;413;413	ENSP00000366513:M413K;ENSP00000354997:M403K;ENSP00000401934:M233K;ENSP00000366502:M413K	ENSP00000354997:M403K	M	-	2	0	CLSTN1	9726647	1.000000	0.71417	0.992000	0.48379	0.675000	0.39556	6.212000	0.72188	1.039000	0.40074	0.533000	0.62120	ATG		0.438	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			24	33	0	0	0	1	0	24	33					T	9804060	A	T	9804060	3	4	463	1	0	0	0	0	1	0	0	0	3561	217	8	5	1751	5	CLSTN1	1	9804060	Missense_Mutation	SNP	A	TCGA-YL-A8SL-01B-21D-A377-08		9804060	239446561	1	31373											
TAS1R2	80834	broad.mit.edu	37	chr1	19166997	19166997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggaccactcgttattcGggcaggcctggcattcatat	8	11	12	10	2	1	0	1	0	0	0	3	1	1	1	2	5	0	4	2	5	3	5	rs199701205		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:19166997G>A	ENST00000375371.3	-	6	1637	c.1616C>T	c.(1615-1617)cCg>cTg	p.P539L		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	539					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CTCGTTATTCGGGCAGGCCTG	0.587																																						ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(1615-1617)cCg>cTg		taste receptor, type 1, member 2	Aspartame(DB00168)						48	51	50					1																	19166997		2203	4299	6502	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166997G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1616C>T	1.37:g.19166997G>A	ENSP00000364520:p.Pro539Leu						p.P539L	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		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)	6	1637	-		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)	539					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.1616C>T	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	8.458	0.854636	0.17106	.	.	ENSG00000179002	ENST00000375371	D	0.90324	-2.65	5.38	4.47	0.54385	GPCR, family 3, nine cysteines domain (1);	0.000000	0.53938	D	0.000058	D	0.84678	0.5525	L	0.41079	1.255	0.58432	D	0.999993	P	0.45348	0.856	B	0.36378	0.223	D	0.85299	0.1072	10	0.72032	D	0.01	.	12.0912	0.53728	0.0846:0.0:0.9154:0.0	.	539	Q8TE23	TS1R2_HUMAN	L	539	ENSP00000364520:P539L	ENSP00000364520:P539L	P	-	2	0	TAS1R2	19039584	0.428000	0.25522	0.866000	0.34008	0.057000	0.15508	0.675000	0.25232	1.282000	0.44496	-0.137000	0.14449	CCG		0.587	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			22	16	0	0	0	1	0	22	16					A	19166997	G	A	19166997	3	1	463	1	0	0	0	0	1	0	0	0	15560	1116	39	2	907	2	TAS1R2	1	19166997	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08	9362937	19166997	230083624	2	31374											
SFRS4	6429	broad.mit.edu	37	chr1	29481413	29481413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcacttctcctgcctgacGcatataatcctgaagaaaaa	14	10	6	11	1	2	3	1	2	1	1	4	3	3	3	3	0	1	1	3	0	5	3			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:29481413G>A	ENST00000373795.4	-	4	607	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	SRSF4_ENST00000546138.1_Intron|RP11-242O24.5_ENST00000450108.1_RNA|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	125	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CCTGCCTGACGCATATAATCC	0.343																																						ENST00000373795.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(373-375)Cgt>Tgt		serine/arginine-rich splicing factor 4							69	68	68					1																	29481413		2203	4300	6503	SO:0001583	missense	6429				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	g.chr1:29481413G>A	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10786	protein-coding gene	gene with protein product	"SR splicing factor 4"	601940	"splicing factor, arginine/serine-rich 4"	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.373C>T	1.37:g.29481413G>A	ENSP00000362900:p.Arg125Cys					SRSF4_ENST00000546138.1_Intron|SRSF4_ENST00000466448.1_5'UTR	p.R125C	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			4	607	-			125			RRM 2.		Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	c.373C>T	CCDS333.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398081	0.83120	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.17691	2.26	5.47	5.47	0.80525	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.62036	0.2395	H	0.98507	4.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77998	-0.2376	10	0.87932	D	0	.	18.678	0.91535	0.0:0.0:1.0:0.0	.	125	Q08170	SRSF4_HUMAN	C	125	ENSP00000362900:R125C	ENSP00000362900:R125C	R	-	1	0	SRSF4	29354000	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.774000	0.62339	2.708000	0.92522	0.650000	0.86243	CGT		0.343	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		10	40	0	0	0	1	0	10	40					A	29481413	G	A	29481413	3	1	463	1	0	0	0	0	1	0	0	0	14179	1087	38	1	1123	1	SFRS4	1	29481413	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08	10314416	29481413	219769208	3	31375											
C1orf113	79729	broad.mit.edu	37	chr1	36786088	36786088	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggcgccccccaacgaGcagaggcctctgagagagga	11	2	16	12	2	1	3	0	1	1	2	1	8	1	5	4	4	2	1	4	4	1	0			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:36786088G>A	ENST00000426732.2	+	13	1761	c.1476G>A	c.(1474-1476)gaG>gaA	p.E492E	SH3D21_ENST00000505871.1_Silent_p.E497E|SH3D21_ENST00000312808.4_Silent_p.E254E|EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000453908.2_Silent_p.E608E|SH3D21_ENST00000474766.1_3'UTR			A4FU49	SH321_HUMAN	SH3 domain containing 21	492						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CCCCCAACGAGCAGAGGCCTC	0.602																																						ENST00000453908.2																			0				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						c.(1822-1824)gaG>gaA		SH3 domain containing 21							35	42	40					1																	36786088		2203	4300	6503	SO:0001819	synonymous_variant	79729							g.chr1:36786088G>A	AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 113"	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.1476G>A	1.37:g.36786088G>A						SH3D21_ENST00000505871.1_Silent_p.E497E|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000426732.2_Silent_p.E492E|SH3D21_ENST00000312808.4_Silent_p.E254E	p.E608E	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN			14	1852	+			492					B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Silent	SNP	ENST00000426732.2	37	c.1824G>A																																																																																					0.602	SH3D21-202	KNOWN	basic	protein_coding	protein_coding		NM_024676		15	21	0	0	0	1	0	15	21					A	36786088	G	A	36786088	2	1	463	1	0	0	0	0	0	0	0	1	1986	962	34	3		3	C1orf113	1	36786088	Silent	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08	7304675	36786088	212464533	4	31376											
MMACHC	25974	broad.mit.edu	37	chr1	45973941	45973941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaggtgcaccccaaccgaCgccccaagatcctggcccag	10	3	10	18	3	0	1	0	0	0	1	1	3	1	1	7	2	2	1	7	2	2	0	rs187869948	byFrequency	TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:45973941C>T	ENST00000401061.4	+	3	614	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	112					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCCAACCGACGCCCCAAGAT	0.567													C|||	2	0.000399361	0	0	5008	,	,		21145	0.002		0	False		,,,				2504	0					ENST00000401061.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(334-336)Cgc>Tgc		methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						75	76	76					1																	45973941		1946	4134	6080	SO:0001583	missense	25974						cobalamin binding	g.chr1:45973941C>T		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.334C>T	1.37:g.45973941C>T	ENSP00000383840:p.Arg112Cys						p.R112C	NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN			3	614	+	Acute lymphoblastic leukemia(166;0.155)		112					Q5T157|Q9BRQ7	Missense_Mutation	SNP	ENST00000401061.4	37	c.334C>T	CCDS41324.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	17.80	3.478139	0.63849	.	.	ENSG00000132763	ENST00000401061	D	0.97688	-4.49	5.67	5.67	0.87782	.	0.098103	0.64402	D	0.000003	D	0.98557	0.9518	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99123	1.0850	10	0.87932	D	0	-12.8481	14.2365	0.65929	0.1867:0.8133:0.0:0.0	.	112	Q9Y4U1	MMAC_HUMAN	C	112	ENSP00000383840:R112C	ENSP00000383840:R112C	R	+	1	0	MMACHC	45746528	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.853000	0.62911	2.689000	0.91719	0.462000	0.41574	CGC		0.567	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020864.2	NM_015506		6	42	0	0	0	1	0	6	42					T	45973941	C	T	45973941	3	4	463	1	0	0	0	0	1	0	0	0	9641	536	19	1	344	1	MMACHC	1	45973941	Missense_Mutation	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08	9187853	45973941	203276680	5	31377											
POMGNT1	55624	broad.mit.edu	37	chr1	46663480	46663480	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttgatgagggggctgggcTtccagtcgtccataccggat	6	10	15	10	2	0	2	0	2	0	0	3	3	2	3	3	4	1	3	3	4	1	3			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:46663480T>G	ENST00000371984.3	-	2	171	c.14A>C	c.(13-15)aAg>aCg	p.K5T	POMGNT1_ENST00000535522.1_5'Flank|POMGNT1_ENST00000371986.3_Missense_Mutation_p.K5T|POMGNT1_ENST00000396420.3_Missense_Mutation_p.K5T|POMGNT1_ENST00000371992.1_Missense_Mutation_p.K5T	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	5					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			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)					GGGGCTGGGCTTCCAGTCGTC	0.582																																						ENST00000396420.3																			0				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						c.(13-15)aAg>aCg		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)							60	62	62					1																	46663480		2203	4300	6503	SO:0001583	missense	55624				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	g.chr1:46663480T>G		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	19139	protein-coding gene	gene with protein product	"protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"	606822	"muscle-eye-brain disease", "protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.14A>C	1.37:g.46663480T>G	ENSP00000361052:p.Lys5Thr					POMGNT1_ENST00000371992.1_Missense_Mutation_p.K5T|POMGNT1_ENST00000371986.3_Missense_Mutation_p.K5T|POMGNT1_ENST00000371984.3_Missense_Mutation_p.K5T	p.K5T			Q8WZA1	PMGT1_HUMAN			2	650	-	Acute lymphoblastic leukemia(166;0.155)		5					D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	c.14A>C	CCDS531.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.094644	0.56075	.	.	ENSG00000085998	ENST00000396420;ENST00000371984;ENST00000371992;ENST00000371986	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.43	5.43	0.79202	.	0.224762	0.53938	D	0.000058	T	0.59797	0.2220	N	0.16307	0.4	0.37977	D	0.933467	B;B;B	0.13145	0.007;0.005;0.003	B;B;B	0.14578	0.011;0.005;0.003	T	0.58329	-0.7655	10	0.21014	T	0.42	-21.7741	15.4786	0.75504	0.0:0.0:0.0:1.0	.	5;5;5	Q68CV6;Q5VST3;Q8WZA1	.;.;PMGT1_HUMAN	T	5	ENSP00000379698:K5T;ENSP00000361052:K5T;ENSP00000361060:K5T;ENSP00000361054:K5T	ENSP00000361052:K5T	K	-	2	0	POMGNT1	46436067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.048000	0.71046	2.056000	0.61249	0.533000	0.62120	AAG		0.582	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		32	44	0	0	0	1	0	32	44					G	46663480	T	G	46663480	3	3	463	1	0	0	0	0	1	0	0	0	12243	1609	56	5	2052	5	POMGNT1	1	46663480	Missense_Mutation	SNP	T	TCGA-YL-A8SL-01B-21D-A377-08	689539	46663480	202587141	6	31378											
OLFML3	56944	broad.mit.edu	37	chr1	114524076	114524076	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtctggccaagttagaTccacagacactggacacaga	12	9	10	10	0	1	3	0	0	1	3	2	4	2	4	2	2	0	1	2	2	2	2			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:114524076T>G	ENST00000320334.4	+	3	980	c.906T>G	c.(904-906)gaT>gaG	p.D302E	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.D282E|OLFML3_ENST00000369551.1_Missense_Mutation_p.D282E	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	302	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				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)		CCAAGTTAGATCCACAGACAC	0.547																																						ENST00000369551.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(844-846)gaT>gaG		olfactomedin-like 3							99	82	87					1																	114524076		2203	4300	6503	SO:0001583	missense	56944				multicellular organismal development	extracellular region		g.chr1:114524076T>G	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.906T>G	1.37:g.114524076T>G	ENSP00000322273:p.Asp302Glu					OLFML3_ENST00000320334.4_Missense_Mutation_p.D302E|OLFML3_ENST00000393300.2_Missense_Mutation_p.D282E|OLFML3_ENST00000491700.1_3'UTR	p.D282E			Q9NRN5	OLFL3_HUMAN		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)	4	1134	+	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)	302			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	ENST00000320334.4	37	c.846T>G	CCDS870.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.037802	0.54896	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.90676	-2.71;-2.71;-2.71	5.96	1.56	0.23342	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	T	0.81235	0.4780	L	0.59967	1.855	0.80722	D	1	P;P	0.51537	0.946;0.757	B;B	0.43155	0.41;0.334	T	0.76634	-0.2887	10	0.32370	T	0.25	.	9.4195	0.38541	0.0:0.6642:0.0:0.3358	.	282;302	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	E	282;302;282	ENSP00000358564:D282E;ENSP00000322273:D302E;ENSP00000376977:D282E	ENSP00000322273:D302E	D	+	3	2	OLFML3	114325599	0.958000	0.32768	1.000000	0.80357	0.995000	0.86356	0.213000	0.17521	0.278000	0.22164	0.533000	0.62120	GAT		0.547	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		12	54	0	0	0	1	0	12	54					G	114524076	T	G	114524076	3	3	463	1	0	0	0	0	1	0	0	0	10859	1432	50	5	916	5	OLFML3	1	114524076	Missense_Mutation	SNP	T	TCGA-YL-A8SL-01B-21D-A377-08	67860596	114524076	134726545	7	31379											
TBX15	6913	broad.mit.edu	37	chr1	119428032	119428032	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacattgaaagtgttgggggCcagatgaaaagttggaggag	13	8	16	4	0	0	3	0	2	0	1	0	5	0	5	1	4	0	2	1	4	3	3			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:119428032C>G	ENST00000369429.3	-	8	1141	c.1132G>C	c.(1132-1134)Gcc>Ccc	p.A378P	TBX15_ENST00000207157.3_Missense_Mutation_p.A272P			Q96SF7	TBX15_HUMAN	T-box 15	378					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GTGTTGGGGGCCAGATGAAAA	0.522																																						ENST00000369429.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37						c.(1132-1134)Gcc>Ccc		T-box 15							38	43	41					1																	119428032		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119428032C>G	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"T-boxes"	11594	protein-coding gene	gene with protein product		604127	"T-box 14"	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1132G>C	1.37:g.119428032C>G	ENSP00000358437:p.Ala378Pro					TBX15_ENST00000207157.3_Missense_Mutation_p.A272P	p.A378P			Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1141	-	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)	378					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.1132G>C		.	.	.	.	.	.	.	.	.	.	C	3.616	-0.078516	0.07184	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873;ENST00000393149	T;T;T	0.73469	-0.75;-0.75;-0.75	5.67	5.67	0.87782	.	0.060715	0.64402	D	0.000004	T	0.36303	0.0962	N	0.13235	0.315	0.47183	D	0.999348	B;B	0.12630	0.006;0.001	B;B	0.11329	0.006;0.004	T	0.32851	-0.9891	10	0.10636	T	0.68	.	9.5506	0.39308	0.0:0.7824:0.1436:0.074	.	175;378	E9PCG3;Q96SF7	.;TBX15_HUMAN	P	175;272;378;106;105	ENSP00000207157:A272P;ENSP00000358437:A378P;ENSP00000398625:A106P	ENSP00000207157:A272P	A	-	1	0	TBX15	119229555	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.547000	0.60712	2.686000	0.91538	0.561000	0.74099	GCC		0.522	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		6	32	0	0	0	1	0	6	32					G	119428032	C	G	119428032	3	3	463	1	0	0	0	0	1	0	0	0	15649	739	26	5	680	5	TBX15	1	119428032	Missense_Mutation	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08	4903956	119428032	129822589	8	31380											
RPTN	126638	broad.mit.edu	37	chr1	152128186	152128186	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtctgtctgtctgaccAtagtgggaactctggccttg	5	14	11	11	0	4	1	0	1	4	0	4	2	4	2	3	2	1	0	3	2	2	3			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1387-1389)taT>taC		repetin							788	697	725					1																	152128186		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128186A>G	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1389T>C	1.37:g.152128186A>G							p.Y463Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1453	-			463			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1389T>C	CCDS41397.1																																																																																				0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		6	740	0	0	0	1	0	6	740					G	152128186	A	G	152128186	2	3	463	1	0	0	0	0	0	0	0	1	13664	224	8	4		4	RPTN	1	152128186	Silent	SNP	A	TCGA-YL-A8SL-01B-21D-A377-08	32700154	152128186	97122435	9	31381											
SPTA1	6708	broad.mit.edu	37	chr1	158614143	158614143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcagggaattctcacgtGccaccatccagctctcaact	10	9	6	16	1	3	0	3	0	2	0	6	1	4	1	4	1	3	1	4	1	2	1			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:158614143G>A	ENST00000368147.4	-	30	4418	c.4238C>T	c.(4237-4239)gCa>gTa	p.A1413V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1413					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			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)					ATTCTCACGTGCCACCATCCA	0.473																																						ENST00000368148.3																			0				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						c.(4237-4239)gCa>gTa		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							109	106	107					1																	158614143		1963	4157	6120	SO:0001583	missense	6708				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	g.chr1:158614143G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4238C>T	1.37:g.158614143G>A	ENSP00000357129:p.Ala1413Val					SPTA1_ENST00000368147.3_Missense_Mutation_p.A1413V	p.A1413V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			30	4418	-	all_hematologic(112;0.0378)		1413					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4238C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315485	0.81358	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35236	1.32;1.32	5.03	3.16	0.36331	.	0.000000	0.32120	N	0.006560	T	0.25680	0.0625	M	0.71206	2.165	0.50632	D	0.999882	P	0.46220	0.874	B	0.44278	0.445	T	0.03587	-1.1022	10	0.35671	T	0.21	.	10.8484	0.46757	0.1567:0.0:0.8433:0.0	.	1413	P02549	SPTA1_HUMAN	V	1413	ENSP00000357130:A1413V;ENSP00000357129:A1413V	ENSP00000357129:A1413V	A	-	2	0	SPTA1	156880767	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	5.989000	0.70587	0.825000	0.34637	0.591000	0.81541	GCA		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		3	51	0	0	0	1	0	3	51					A	158614143	G	A	158614143	3	1	463	1	0	0	0	0	1	0	0	0	15115	1319	46	3	3113	3	SPTA1	1	158614143	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08	6485957	158614143	90636478	10	31382											
GPA33	10223	broad.mit.edu	37	chr1	167038355	167038355	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtagtttttgtttgaaaaCggccagatgaccaccctttc	10	14	8	9	1	0	3	0	2	0	1	1	3	0	3	3	1	1	3	3	1	3	5	rs144380186		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:167038355C>T	ENST00000367868.3	-	3	562	c.219G>A	c.(217-219)ccG>ccA	p.P73P	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	73	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGTTTGAAAACGGCCAGATGA	0.507													C|||	1	0.000199681	8e-04	0	5008	,	,		16036	0		0	False		,,,				2504	0					ENST00000367868.3																			0				endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(217-219)ccG>ccA		glycoprotein A33 (transmembrane)		C		11,4395	17.9+/-39.9	0,11,2192	93	87	89		219	-11.3	0	1	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPA33	NM_005814.1		0,12,6491	TT,TC,CC		0.0116,0.2497,0.0923		73/320	167038355	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	10223					integral to plasma membrane	receptor activity	g.chr1:167038355C>T	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.219G>A	1.37:g.167038355C>T						GPA33_ENST00000527955.1_5'UTR	p.P73P	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN			3	562	-			73			Ig-like V-type.		Q5VZP6	Silent	SNP	ENST00000367868.3	37	c.219G>A	CCDS1258.1																																																																																				0.507	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814		13	19	0	0	0	1	0	13	19					T	167038355	C	T	167038355	2	4	463	1	0	0	0	0	0	0	0	1	6586	523	19	1		1	GPA33	1	167038355	Silent	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08	8424212	167038355	82212266	11	31383											
PLA2G4A	5321	broad.mit.edu	37	chr1	186925324	186925324	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatggccttggtgagtgattCagctttattcaataccagag	11	13	10	7	0	2	3	2	2	0	1	2	3	2	3	2	2	2	1	2	2	4	6			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:186925324C>G	ENST00000367466.3	+	14	1579	c.1427C>G	c.(1426-1428)tCa>tGa	p.S476*	PLA2G4A_ENST00000442353.2_Nonsense_Mutation_p.S416*	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	476	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GTGAGTGATTCAGCTTTATTC	0.418																																						ENST00000367466.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(1426-1428)tCa>tGa		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						154	137	143					1																	186925324		2203	4300	6503	SO:0001587	stop_gained	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186925324C>G	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1427C>G	1.37:g.186925324C>G	ENSP00000356436:p.Ser476*					PLA2G4A_ENST00000442353.2_Nonsense_Mutation_p.S416*	p.S476*	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN			14	1579	+			476			PLA2c.		B1AKG4|Q29R80	Nonsense_Mutation	SNP	ENST00000367466.3	37	c.1427C>G	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	C	38	6.814899	0.97857	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	.	.	.	5.45	5.45	0.79879	.	0.179711	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-16.0726	14.9864	0.71351	0.0:0.8472:0.1528:0.0	.	.	.	.	X	476;416	.	ENSP00000356436:S476X	S	+	2	0	PLA2G4A	185191947	1.000000	0.71417	0.282000	0.24776	0.955000	0.61496	5.814000	0.69208	2.725000	0.93324	0.655000	0.94253	TCA		0.418	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		22	30	0	0	0	1	0	22	30					G	186925324	C	G	186925324	4	3	463	1	0	0	0	0	0	1	0	0	12001	838	29	5	1477	5	PLA2G4A	1	186925324	Nonsense_Mutation	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08	19886969	186925324	62325297	12	31384											
PTPRC	5788	broad.mit.edu	37	chr1	198713285	198713285	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatctacataacatgaagAaaagggatccacccagtgag	17	7	8	9	0	1	3	0	2	1	1	2	4	2	4	2	1	2	0	2	1	6	3			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:198713285A>C	ENST00000367376.2	+	26	2965	c.2794A>C	c.(2794-2796)Aaa>Caa	p.K932Q	PTPRC_ENST00000442510.2_Missense_Mutation_p.K934Q|PTPRC_ENST00000348564.6_Missense_Mutation_p.K773Q|PTPRC_ENST00000352140.3_Missense_Mutation_p.K884Q|PTPRC_ENST00000594404.1_Missense_Mutation_p.K771Q	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	932					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TAACATGAAGAAAAGGGATCC	0.378																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(2794-2796)Aaa>Caa		protein tyrosine phosphatase, receptor type, C							85	80	82					1																	198713285		2202	4298	6500	SO:0001583	missense	5788				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	g.chr1:198713285A>C	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2794A>C	1.37:g.198713285A>C	ENSP00000356346:p.Lys932Gln					PTPRC_ENST00000442510.2_Missense_Mutation_p.K934Q|PTPRC_ENST00000594404.1_Missense_Mutation_p.K771Q|PTPRC_ENST00000352140.3_Missense_Mutation_p.K884Q|PTPRC_ENST00000348564.6_Missense_Mutation_p.K773Q	p.K932Q	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			26	2965	+			932					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.2794A>C		.	.	.	.	.	.	.	.	.	.	A	12.71	2.020906	0.35606	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.14022	2.54	5.78	5.78	0.91487	.	0.000000	0.52532	D	0.000069	T	0.08758	0.0217	N	0.17474	0.49	0.38002	D	0.934276	B;P;B	0.34462	0.264;0.454;0.264	B;B;B	0.37601	0.186;0.254;0.186	T	0.23583	-1.0184	10	0.07813	T	0.8	.	11.2273	0.48890	0.8633:0.0:0.0:0.1367	.	773;884;932	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	Q	934;884;932;771	ENSP00000193532:K884Q	ENSP00000306782:K771Q	K	+	1	0	PTPRC	196979908	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.279000	0.43435	2.199000	0.70637	0.519000	0.50382	AAA		0.378	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				15	21	0	0	0	1	0	15	21					C	198713285	A	C	198713285	3	2	463	1	0	0	0	0	1	0	0	0	12797	247	9	5	2903	5	PTPRC	1	198713285	Missense_Mutation	SNP	A	TCGA-YL-A8SL-01B-21D-A377-08	11787961	198713285	50537336	13	31385											
PPP2R5A	5525	broad.mit.edu	37	chr1	212515567	212515567	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagatttttggagagccCtgatttccagcctagcattg	8	14	10	9	0	0	3	0	2	0	2	1	5	1	3	3	1	3	1	3	1	1	6			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:212515567C>G	ENST00000261461.2	+	4	1092	c.518C>G	c.(517-519)cCt>cGt	p.P173R	PPP2R5A_ENST00000537030.3_Missense_Mutation_p.P116R|PPP2R5A_ENST00000498129.2_3'UTR	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	173					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TTGGAGAGCCCTGATTTCCAG	0.348																																						ENST00000261461.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16						c.(517-519)cCt>cGt		protein phosphatase 2, regulatory subunit B', alpha							130	124	126					1																	212515567		2203	4300	6503	SO:0001583	missense	5525				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	g.chr1:212515567C>G	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9309	protein-coding gene	gene with protein product		601643	"protein phosphatase 2, regulatory subunit B (B56), alpha isoform", "protein phosphatase 2, regulatory subunit B', alpha isoform"			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.518C>G	1.37:g.212515567C>G	ENSP00000261461:p.Pro173Arg					PPP2R5A_ENST00000498129.1_3'UTR|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.P116R	p.P173R	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	4	1092	+			173					B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	37	c.518C>G	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359211	0.82353	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.86	5.86	0.93980	Armadillo-type fold (1);	0.046304	0.85682	N	0.000000	T	0.81059	0.4744	M	0.88181	2.935	0.58432	D	0.999998	P;P	0.43314	0.803;0.803	P;P	0.49252	0.604;0.604	D	0.83591	0.0123	9	0.72032	D	0.01	-11.9491	20.1837	0.98210	0.0:1.0:0.0:0.0	.	116;173	B7Z7L2;Q15172	.;2A5A_HUMAN	R	173;173;116	.	ENSP00000261461:P173R	P	+	2	0	PPP2R5A	210582190	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.769000	0.47654	2.774000	0.95407	0.650000	0.86243	CCT		0.348	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		48	72	0	0	0	1	0	48	72					G	212515567	C	G	212515567	3	3	463	1	0	0	0	0	1	0	0	0	12392	681	24	5	532	5	PPP2R5A	1	212515567	Missense_Mutation	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08	13802282	212515567	36735054	14	31386											
SMYD2	56950	broad.mit.edu	37	chr1	214491465	214491465	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggaaaaattgttagctgTgaaggagtttgaatcacgta	13	13	11	4	2	1	2	1	2	0	0	2	4	1	4	0	2	1	4	0	2	6	5			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:214491465T>C	ENST00000366957.5	+	4	414	c.392T>C	c.(391-393)gTg>gCg	p.V131A	SMYD2_ENST00000415093.2_Missense_Mutation_p.V131A|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	131	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			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)		TTGTTAGCTGTGAAGGAGTTT	0.448																																						ENST00000366957.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(391-393)gTg>gCg		SET and MYND domain containing 2							106	110	108					1																	214491465		2203	4300	6503	SO:0001583	missense	56950				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	g.chr1:214491465T>C	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.392T>C	1.37:g.214491465T>C	ENSP00000355924:p.Val131Ala					SMYD2_ENST00000415093.2_Missense_Mutation_p.V131A|SMYD2_ENST00000491455.1_3'UTR	p.V131A	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	4	414	+			131			SET.		B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	37	c.392T>C	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.423922	0.83667	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	T;T	0.14640	2.49;2.49	5.62	5.62	0.85841	SET domain (2);	0.263700	0.38492	N	0.001674	T	0.26195	0.0639	L	0.39147	1.195	0.58432	D	0.999992	D;P	0.56968	0.978;0.94	P;P	0.62560	0.904;0.836	T	0.00883	-1.1528	10	0.31617	T	0.26	-1.5315	15.8248	0.78690	0.0:0.0:0.0:1.0	.	131;115	Q9NRG4;Q05C86	SMYD2_HUMAN;.	A	131	ENSP00000355924:V131A;ENSP00000388682:V131A	ENSP00000355924:V131A	V	+	2	0	SMYD2	212558088	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	6.987000	0.76206	2.140000	0.66376	0.459000	0.35465	GTG		0.448	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		31	52	0	0	0	1	0	31	52					C	214491465	T	C	214491465	3	2	463	1	0	0	0	0	1	0	0	0	14822	1696	59	4	406	4	SMYD2	1	214491465	Missense_Mutation	SNP	T	TCGA-YL-A8SL-01B-21D-A377-08	1975898	214491465	34759156	15	31387											
USH2A	7399	broad.mit.edu	37	chr1	216251433	216251433	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagatggaacttacctTgttccaaacacaaatgttga	13	11	6	11	0	0	2	0	1	0	1	2	3	2	3	4	1	3	2	4	1	4	4			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:216251433T>G	ENST00000307340.3	-	27	5956	c.5570A>C	c.(5569-5571)cAa>cCa	p.Q1857P	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.Q1857P|RP11-22M7.2_ENST00000442606.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1857	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			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)		GAACTTACCTTGTTCCAAACA	0.458										HNSCC(13;0.011)																												ENST00000366943.2																			0				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						c.(5569-5571)cAa>cCa		Usher syndrome 2A (autosomal recessive, mild)							72	77	75					1																	216251433		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216251433T>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5570A>C	1.37:g.216251433T>G	ENSP00000305941:p.Gln1857Pro	HNSCC(13;0.011)				RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.Q1857P|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	p.Q1857P			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	27	5956	-			1857			Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5570A>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.941165	0.53079	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78003	-1.14;-1.14	5.01	-2.47	0.06442	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.384731	0.18942	N	0.126915	T	0.64080	0.2566	L	0.43701	1.375	0.21841	N	0.999514	B	0.15141	0.012	B	0.16722	0.016	T	0.48547	-0.9026	10	0.27785	T	0.31	.	8.6101	0.33797	0.2134:0.0:0.4408:0.3458	.	1857	O75445	USH2A_HUMAN	P	1857	ENSP00000305941:Q1857P;ENSP00000355910:Q1857P	ENSP00000305941:Q1857P	Q	-	2	0	USH2A	214318056	1.000000	0.71417	0.478000	0.27316	0.911000	0.54048	1.443000	0.35057	-0.804000	0.04410	0.528000	0.53228	CAA		0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		31	35	0	0	0	1	0	31	35					G	216251433	T	G	216251433	3	3	463	1	0	0	0	0	1	0	0	0	17033	1812	63	5	10222	5	USH2A	1	216251433	Missense_Mutation	SNP	T	TCGA-YL-A8SL-01B-21D-A377-08	1759968	216251433	32999188	16	31388											
CASR	846	broad.mit.edu	37	chr3	122002787	122002792	+	In_Frame_Del	DEL	CTCCAG	CTCCAG	-																															ttctccctgctctgctgcttCtccagctccctgttcttcat																										TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr3:122002787_122002792delCTCCAG	ENST00000490131.1	+	7	2358_2363	c.1986_1991delCTCCAG	c.(1984-1992)ttctccagc>ttc	p.SS663del	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_In_Frame_Del_p.SS663del|CASR_ENST00000498619.1_In_Frame_Del_p.SS673del	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	663					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTGCTGCTTCTCCAGCTCCCTGTTC	0.592																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2014-2022)ttc>tt		calcium-sensing receptor	Cinacalcet(DB01012)																																			SO:0001651	inframe_deletion	846				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	g.chr3:122002787_122002792delCTCCAG	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1986_1991delCTCCAG	3.37:g.122002787_122002792delCTCCAG	ENSP00000418685:p.Ser663_Ser664del					CASR_ENST00000490131.1_In_Frame_Del_p.FSS662del|CASR_ENST00000296154.5_In_Frame_Del_p.FSS662del	p.FSS672del	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2454_2459	+			662					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	In_Frame_Del	DEL	ENST00000490131.1	37	c.2016_2021delCTCCAG	CCDS3010.1																																																																																				0.592	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		19	58						19	58	---	---	---	---	-	122002792	CTCCAG	-	122002787	7	5	463	1	0	1	0	1	0	0	0	0	2682	912	32	0	2038	0	CASR	3	122002787	In_Frame_Del	DEL	CTCCAG	TCGA-YL-A8SL-01B-21D-A377-08		122002787	76019643	17	31389											
SEC22A	26984	broad.mit.edu	37	chr3	122990559	122990559	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagggcaaggctcccgattAtgatgtctgacaccatcctt	9	10	9	13	1	1	2	0	2	1	0	3	3	3	2	4	2	0	2	4	2	2	2			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr3:122990559A>C	ENST00000309934.4	+	6	1810	c.914A>C	c.(913-915)tAt>tCt	p.Y305S	SEC22A_ENST00000492595.1_Missense_Mutation_p.Y305S|SEC22A_ENST00000481965.2_3'UTR	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	305					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		GCTCCCGATTATGATGTCTGA	0.493																																						ENST00000309934.4																			0				NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(913-915)tAt>tCt		SEC22 vesicle trafficking protein homolog A (S. cerevisiae)							62	55	57					3																	122990559		2203	4300	6503	SO:0001583	missense	26984				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity	g.chr3:122990559A>C	AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.914A>C	3.37:g.122990559A>C	ENSP00000310521:p.Tyr305Ser					SEC22A_ENST00000481965.2_3'UTR|SEC22A_ENST00000492595.1_Missense_Mutation_p.Y305S	p.Y305S	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN		GBM - Glioblastoma multiforme(114;0.0548)	6	1810	+			305					B2RE26|Q9Y682	Missense_Mutation	SNP	ENST00000309934.4	37	c.914A>C	CCDS3021.1	.	.	.	.	.	.	.	.	.	.	A	19.50	3.839629	0.71488	.	.	ENSG00000121542	ENST00000492595;ENST00000309934	T;T	0.22539	1.95;1.95	5.84	5.84	0.93424	.	0.058484	0.64402	D	0.000001	T	0.28499	0.0705	M	0.77616	2.38	0.58432	D	0.999998	P	0.36065	0.535	B	0.34722	0.188	T	0.05273	-1.0895	10	0.27082	T	0.32	0.2936	16.2123	0.82170	1.0:0.0:0.0:0.0	.	305	Q96IW7	SC22A_HUMAN	S	305	ENSP00000417972:Y305S;ENSP00000310521:Y305S	ENSP00000310521:Y305S	Y	+	2	0	SEC22A	124473249	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	8.962000	0.93254	2.231000	0.72958	0.455000	0.32223	TAT		0.493	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430		14	22	0	0	0	1	0	14	22					C	122990559	A	C	122990559	3	2	463	1	0	0	0	0	1	0	0	0	13988	449	16	5	936	5	SEC22A	3	122990559	Missense_Mutation	SNP	A	TCGA-YL-A8SL-01B-21D-A377-08	987772	122990559	75031871	18	31390											
PIK3CB	5291	broad.mit.edu	37	chr3	138417865	138417865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataagatccatttcattttCacacagttgagacaagggat	15	12	7	7	0	2	2	2	1	0	2	3	4	3	3	1	1	0	1	1	1	3	5			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr3:138417865C>T	ENST00000477593.1	-	12	1727	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K	PIK3CB_ENST00000544716.1_5'UTR|PIK3CB_ENST00000289153.2_Missense_Mutation_p.E552K			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	552	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.E552K(1)		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					Caffeine(DB00201)	ATTTCATTTTCACACAGTTGA	0.373																																						ENST00000477593.1																			1	Substitution - Missense(1)	p.E552K(1)	endometrium(1)	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						c.(1654-1656)Gaa>Aaa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							98	98	98					3																	138417865		2203	4300	6503	SO:0001583	missense	5291				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	g.chr3:138417865C>T		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1654G>A	3.37:g.138417865C>T	ENSP00000418143:p.Glu552Lys					PIK3CB_ENST00000544716.1_5'UTR|PIK3CB_ENST00000289153.2_Missense_Mutation_p.E552K	p.E552K			P42338	PK3CB_HUMAN			12	1727	-			552			PI3K helical.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.1654G>A	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522909	0.85600	.	.	ENSG00000051382	ENST00000477593;ENST00000289153	T;T	0.63255	-0.03;-0.03	5.91	5.01	0.66863	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	L	0.54863	1.705	0.80722	D	1	D;D	0.76494	0.967;0.999	P;D	0.73708	0.897;0.981	T	0.69228	-0.5200	10	0.30078	T	0.28	-17.9641	16.5318	0.84362	0.1311:0.8689:0.0:0.0	.	552;139	P42338;B4DZI3	PK3CB_HUMAN;.	K	552	ENSP00000418143:E552K;ENSP00000289153:E552K	ENSP00000289153:E552K	E	-	1	0	PIK3CB	139900555	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.758000	0.68776	2.805000	0.96524	0.460000	0.39030	GAA		0.373	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			7	71	0	0	0	1	0	7	71					T	138417865	C	T	138417865	3	4	463	1	0	0	0	0	1	0	0	0	11914	835	29	3	1604	3	PIK3CB	3	138417865	Missense_Mutation	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08	15427306	138417865	59604565	19	31391											
GSX2	170825	broad.mit.edu	37	chr4	54966544	54966544	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctatgtcgactcgctcatCatcaaggacacctcacggcc	9	10	7	15	3	5	0	4	0	1	0	7	2	5	1	2	2	0	1	2	2	2	2			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr4:54966544C>A	ENST00000326902.2	+	1	347	c.33C>A	c.(31-33)atC>atA	p.I11I	GSX2_ENST00000503800.1_Silent_p.I11I|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	11					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			ACTCGCTCATCATCAAGGACA	0.642																																						ENST00000326902.2																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(31-33)atC>atA		GS homeobox 2							57	44	48					4																	54966544		2203	4299	6502	SO:0001819	synonymous_variant	170825					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:54966544C>A		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"Homeoboxes / ANTP class : HOXL subclass"	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.33C>A	4.37:g.54966544C>A						GSX2_ENST00000503800.1_Silent_p.I11I|FIP1L1_ENST00000507166.1_Intron	p.I11I	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		1	347	+	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		11						Silent	SNP	ENST00000326902.2	37	c.33C>A	CCDS3494.1																																																																																				0.642	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1	NM_133267		3	29	1	0	0.115264	1	0.115264	3	29					A	54966544	C	A	54966544	2	1	463	1	0	0	0	0	0	0	0	1	6850	816	29	5		5	GSX2	4	54966544	Silent	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08		54966544	136187732	20	31392											
C5orf23	4883	broad.mit.edu	37	chr5	32789763	32789763	+	3'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcattaatttactcaaggCacatgtgccttctttgcccc	10	14	5	12	0	3	0	2	0	1	0	3	0	3	0	3	1	3	1	3	1	4	5			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr5:32789763C>T	ENST00000265074.8	+	0	5281				AC026703.1_ENST00000326958.1_Missense_Mutation_p.H86Y	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTACTCAAGGCACATGTGCCT	0.408																																						ENST00000326958.1																			0											c.(256-258)Cac>Tac									141	120	127					5																	32789763		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0							g.chr5:32789763C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3312C>T	5.37:g.32789763C>T						NPR3_ENST00000265074.8_3'UTR	p.H86Y							1	819	+								A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.256C>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896437	0.33442	.	.	ENSG00000181495	ENST00000326958	.	.	.	4.68	0.628	0.17681	.	.	.	.	.	T	0.35740	0.0942	.	.	.	0.20764	N	0.999855	.	.	.	.	.	.	T	0.36768	-0.9734	5	0.87932	D	0	.	3.3698	0.07216	0.3585:0.4458:0.0:0.1957	.	.	.	.	Y	86	.	ENSP00000318340:H86Y	H	+	1	0	AC026703.1	32825520	0.003000	0.15002	0.008000	0.14137	0.956000	0.61745	-0.148000	0.10219	0.301000	0.22738	0.591000	0.81541	CAC		0.408	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		4	126	0	0	0	1	0	4	126					T	32789763	C	T	32789763	1	4	463	0	1	0	0	0	0	0	0	0	2286	710	25	3		3	C5orf23	5	32789763	3'UTR	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08		32789763	148125497	21	31393											
GRIA1	2890	broad.mit.edu	37	chr5	153190675	153190675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggagccagcagcggcGgcagtggagagaatggtcgg	9	3	21	8	3	0	1	0	0	0	1	1	4	0	3	1	7	3	3	1	7	1	0	rs139089198		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr5:153190675G>A	ENST00000285900.5	+	16	2954	c.2611G>A	c.(2611-2613)Ggc>Agc	p.G871S	GRIA1_ENST00000518142.1_Missense_Mutation_p.G791S|GRIA1_ENST00000521843.2_Missense_Mutation_p.G802S|GRIA1_ENST00000448073.4_Missense_Mutation_p.G881S|GRIA1_ENST00000340592.5_Missense_Mutation_p.G871S|GRIA1_ENST00000518783.1_Missense_Mutation_p.G881S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	871					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CAGCAGCGGCGGCAGTGGAGA	0.577																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2611-2613)Ggc>Agc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	G	SER/GLY,SER/GLY	0,4406		0,0,2203	47	50	49		2611,2611	3.8	1	5	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GRIA1	NM_000827.3,NM_001114183.1	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	871/907,871/907	153190675	1,13005	2203	4300	6503	SO:0001583	missense	0				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	g.chr5:153190675G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2611G>A	5.37:g.153190675G>A	ENSP00000285900:p.Gly871Ser					GRIA1_ENST00000521843.2_Missense_Mutation_p.G802S|GRIA1_ENST00000340592.5_Missense_Mutation_p.G871S|GRIA1_ENST00000448073.4_Missense_Mutation_p.G881S|GRIA1_ENST00000518783.1_Missense_Mutation_p.G881S|GRIA1_ENST00000518142.1_Missense_Mutation_p.G791S	p.G871S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		16	2954	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	871					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2611G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	4.520	0.096549	0.08681	0.0	1.16E-4	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.10960	2.88;2.82;2.87;2.82;2.82;2.88;2.87	3.78	3.78	0.43462	.	0.097829	0.64402	D	0.000001	T	0.06781	0.0173	N	0.01009	-1.055	0.42305	D	0.992196	B;B;B;D;B	0.71674	0.016;0.016;0.006;0.998;0.0	B;B;B;D;B	0.65443	0.002;0.002;0.001;0.935;0.002	T	0.38394	-0.9663	10	0.02654	T	1	.	11.4288	0.50027	0.0:0.0:1.0:0.0	.	881;881;791;871;871	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	S	871;871;791;871;804;802;881;881	ENSP00000285900:G871S;ENSP00000427920:G791S;ENSP00000339343:G871S;ENSP00000427864:G804S;ENSP00000442108:G802S;ENSP00000428994:G881S;ENSP00000415569:G881S	ENSP00000285900:G871S	G	+	1	0	GRIA1	153170868	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	3.019000	0.49635	2.399000	0.81585	0.655000	0.94253	GGC		0.577	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			4	68	0	0	0	1	0	4	68					A	153190675	G	A	153190675	3	1	463	1	0	0	0	0	1	0	0	0	6767	1116	39	2	2792	2	GRIA1	5	153190675	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08	120400912	153190675	27724585	22	31394											
GPR110	266977	broad.mit.edu	37	chr6	46973590	46973590	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagaacttaaggcagacaaCttgttgaacagaagttgtcg	15	9	10	7	1	0	4	0	1	0	3	1	4	0	4	0	1	3	3	0	1	6	4			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr6:46973590C>T	ENST00000371253.2	-	13	2771	c.2556G>A	c.(2554-2556)aaG>aaA	p.K852K	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.K655K	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	852					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGGCAGACAACTTGTTGAACA	0.373																																						ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(2554-2556)aaG>aaA		G protein-coupled receptor 110							79	64	69					6																	46973590		2203	4300	6503	SO:0001819	synonymous_variant	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46973590C>T	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2556G>A	6.37:g.46973590C>T						GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.K655K	p.K852K	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			13	2771	-			852					Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	ENST00000371253.2	37	c.2556G>A	CCDS34471.1																																																																																				0.373	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		15	20	0	0	0	1	0	15	20					T	46973590	C	T	46973590	2	4	463	1	0	0	0	0	0	0	0	1	6627	564	20	3		3	GPR110	6	46973590	Silent	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08		46973590	124141477	23	31395											
SMPD2	6610	broad.mit.edu	37	chr6	109762786	109762786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggacttccagtacctgaGacagaagctgtcacctacct	11	8	9	13	0	1	2	1	1	0	2	2	4	2	3	4	1	3	3	4	1	3	3			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr6:109762786G>A	ENST00000258052.3	+	3	538	c.179G>A	c.(178-180)aGa>aAa	p.R60K	PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	60					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		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)		CAGTACCTGAGACAGAAGCTG	0.607																																						ENST00000258052.3																			0				endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(178-180)aGa>aAa		sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)							173	155	161					6																	109762786		2203	4300	6503	SO:0001583	missense	6610				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	g.chr6:109762786G>A	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.179G>A	6.37:g.109762786G>A	ENSP00000258052:p.Arg60Lys						p.R60K	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)	3	538	+		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)	60					Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	c.179G>A	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695050	0.30052	.	.	ENSG00000135587	ENST00000258052	T	0.29397	1.57	4.87	1.94	0.25998	Endonuclease/exonuclease/phosphatase (2);	0.234553	0.49916	N	0.000127	T	0.03434	0.0099	N	0.04355	-0.22	0.31040	N	0.716408	B;B	0.06786	0.001;0.0	B;B	0.15484	0.013;0.003	T	0.44982	-0.9292	10	0.12430	T	0.62	-5.0742	6.9569	0.24576	0.2911:0.0:0.7089:0.0	.	60;60	B2R8U8;O60906	.;NSMA_HUMAN	K	60	ENSP00000258052:R60K	ENSP00000258052:R60K	R	+	2	0	SMPD2	109869479	0.886000	0.30341	0.945000	0.38365	0.993000	0.82548	1.217000	0.32455	0.280000	0.22209	0.655000	0.94253	AGA		0.607	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			35	42	0	0	0	1	0	35	42					A	109762786	G	A	109762786	3	1	463	1	0	0	0	0	1	0	0	0	14805	942	33	3	189	3	SMPD2	6	109762786	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08	62789196	109762786	61352281	24	31396											
KIF25	3834	broad.mit.edu	37	chr6	168440860	168440860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtctcacctgataattacgGtgactctaaccacagcctcc	10	10	7	14	1	2	2	1	2	2	0	4	2	3	2	4	2	3	0	4	2	3	3			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr6:168440860G>A	ENST00000443060.2	+	7	1001	c.610G>A	c.(610-612)Gtg>Atg	p.V204M	KIF25_ENST00000354419.2_Missense_Mutation_p.V204M|KIF25_ENST00000351261.3_Missense_Mutation_p.V204M			Q9UIL4	KIF25_HUMAN	kinesin family member 25	204	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		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)		GATAATTACGGTGACTCTAAC	0.507																																						ENST00000443060.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(610-612)Gtg>Atg		kinesin family member 25							73	62	66					6																	168440860		2203	4300	6503	SO:0001583	missense	0				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168440860G>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"Kinesins"	6390	protein-coding gene	gene with protein product		603815	"kinesin-like 3"	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.610G>A	6.37:g.168440860G>A	ENSP00000388878:p.Val204Met					KIF25_ENST00000354419.2_Missense_Mutation_p.V204M|KIF25_ENST00000351261.3_Missense_Mutation_p.V204M	p.V204M			Q9UIL4	KIF25_HUMAN		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)	7	1001	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	204			Kinesin-motor.		O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.610G>A	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922712	0.33908	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.77098	-1.07;-1.07;-1.07	4.09	0.844	0.18943	Kinesin, motor domain (5);	1.000060	0.08071	N	0.999875	T	0.69441	0.3111	L	0.38531	1.155	0.09310	N	1	P;D	0.69078	0.858;0.997	P;D	0.66196	0.491;0.942	T	0.57510	-0.7799	10	0.87932	D	0	-24.803	5.748	0.18130	0.1153:0.3822:0.5026:0.0	.	204;204	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	M	204	ENSP00000388878:V204M;ENSP00000346401:V204M;ENSP00000252688:V204M	ENSP00000252688:V204M	V	+	1	0	KIF25	168183709	0.019000	0.18553	0.001000	0.08648	0.015000	0.08874	0.049000	0.14099	0.673000	0.31224	0.411000	0.27672	GTG		0.507	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			11	18	0	0	0	1	0	11	18					A	168440860	G	A	168440860	3	1	463	1	0	0	0	0	1	0	0	0	8293	1261	44	3	628	3	KIF25	6	168440860	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08	58678074	168440860	2674207	25	31397											
CHST12	55501	broad.mit.edu	37	chr7	2472601	2472601	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctacgactggtccccgcgCgacgcccggcgcagcccaga	6	3	14	18	7	0	1	0	0	0	1	1	3	1	1	4	3	2	2	4	3	1	1			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr7:2472601C>T	ENST00000258711.6	+	2	462	c.327C>T	c.(325-327)cgC>cgT	p.R109R		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	109			R -> S (in dbSNP:rs17132395).		carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GGTCCCCGCGCGACGCCCGGC	0.716																																						ENST00000258711.6																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(325-327)cgC>cgT		carbohydrate (chondroitin 4) sulfotransferase 12							19	25	23					7																	2472601		2186	4282	6468	SO:0001819	synonymous_variant	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2472601C>T	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"Sulfotransferases, membrane-bound"	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.327C>T	7.37:g.2472601C>T							p.R109R	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	462	+		Ovarian(82;0.0253)	109		R -> S (in dbSNP:rs17132395).			A4D1Z9|Q502W3|Q9NXY7	Silent	SNP	ENST00000258711.6	37	c.327C>T	CCDS5333.1																																																																																				0.716	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		12	49	0	0	0	1	0	12	49					T	2472601	C	T	2472601	2	4	463	1	0	0	0	0	0	0	0	1	3400	755	27	1		1	CHST12	7	2472601	Silent	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08		2472601	156666062	26	31398											
CHST12	55501	broad.mit.edu	37	chr7	2473422	2473422	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggaggactggttcgccaAgatccccctggcctggaggc	7	6	16	12	1	0	1	0	0	0	1	2	5	1	5	4	7	0	1	4	7	1	1			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr7:2473422A>G	ENST00000258711.6	+	2	1283	c.1148A>G	c.(1147-1149)aAg>aGg	p.K383R		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	383					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TGGTTCGCCAAGATCCCCCTG	0.627																																						ENST00000258711.6																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1147-1149)aAg>aGg		carbohydrate (chondroitin 4) sulfotransferase 12							47	51	50					7																	2473422		2203	4300	6503	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2473422A>G	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"Sulfotransferases, membrane-bound"	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.1148A>G	7.37:g.2473422A>G	ENSP00000258711:p.Lys383Arg						p.K383R	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	1283	+		Ovarian(82;0.0253)	383					A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.1148A>G	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.134670	0.37630	.	.	ENSG00000136213	ENST00000258711	T	0.72835	-0.69	5.15	0.369	0.16151	.	2.679520	0.01667	N	0.025437	T	0.60457	0.2270	L	0.34521	1.04	0.20307	N	0.999917	B	0.12013	0.005	B	0.14023	0.01	T	0.38200	-0.9672	10	0.33940	T	0.23	-24.3429	6.7016	0.23229	0.6196:0.2889:0.0915:0.0	.	383	Q9NRB3	CHSTC_HUMAN	R	383	ENSP00000258711:K383R	ENSP00000258711:K383R	K	+	2	0	CHST12	2439948	0.948000	0.32251	0.000000	0.03702	0.983000	0.72400	3.420000	0.52735	-0.045000	0.13468	0.459000	0.35465	AAG		0.627	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		28	27	0	0	0	1	0	28	27					G	2473422	A	G	2473422	3	3	463	1	0	0	0	0	1	0	0	0	3400	72	3	4	1150	4	CHST12	7	2473422	Missense_Mutation	SNP	A	TCGA-YL-A8SL-01B-21D-A377-08	821	2473422	156665241	27	31399											
GPNMB	10457	broad.mit.edu	37	chr7	23313767	23313767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtgtctttctcaaccgtgCaaaagccgtgttcttcccgg	7	12	10	12	3	3	0	1	0	3	0	5	1	4	0	3	1	3	2	3	1	3	3			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr7:23313767C>T	ENST00000381990.2	+	11	1804	c.1643C>T	c.(1642-1644)gCa>gTa	p.A548V	GPNMB_ENST00000258733.4_Missense_Mutation_p.A536V|GPNMB_ENST00000539136.1_Missense_Mutation_p.A437V|GPNMB_ENST00000453162.2_Missense_Mutation_p.A490V|GPNMB_ENST00000478451.1_3'UTR	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	548					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CTCAACCGTGCAAAAGCCGTG	0.418																																						ENST00000258733.4																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(1606-1608)gCa>gTa		glycoprotein (transmembrane) nmb							90	91	91					7																	23313767		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23313767C>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1643C>T	7.37:g.23313767C>T	ENSP00000371420:p.Ala548Val					GPNMB_ENST00000478451.1_3'UTR|GPNMB_ENST00000539136.1_Missense_Mutation_p.A437V|GPNMB_ENST00000453162.2_Missense_Mutation_p.A490V|GPNMB_ENST00000381990.2_Missense_Mutation_p.A548V	p.A536V			Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		11	1902	+			548					A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.1607C>T	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	C	1.928	-0.446633	0.04572	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.13657	2.58;2.58;2.57;2.57	6.07	3.2	0.36748	.	0.346446	0.25436	N	0.030684	T	0.08358	0.0208	L	0.39633	1.23	0.09310	N	1	B;B;B;P	0.45531	0.176;0.012;0.136;0.86	B;B;B;P	0.44561	0.037;0.023;0.025;0.453	T	0.40346	-0.9568	10	0.05721	T	0.95	-9.8319	1.0898	0.01661	0.2137:0.3994:0.2084:0.1785	.	437;490;548;536	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	V	536;583;548;431;437;490	ENSP00000258733:A536V;ENSP00000371420:A548V;ENSP00000445266:A437V;ENSP00000405586:A490V	ENSP00000258733:A536V	A	+	2	0	GPNMB	23280292	0.028000	0.19301	0.020000	0.16555	0.019000	0.09904	1.346000	0.33964	2.884000	0.98904	0.655000	0.94253	GCA		0.418	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		39	48	0	0	0	1	0	39	48					T	23313767	C	T	23313767	3	4	463	1	0	0	0	0	1	0	0	0	6620	710	25	3	1685	3	GPNMB	7	23313767	Missense_Mutation	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08	20840345	23313767	135824896	28	31400											
COL1A2	1278	broad.mit.edu	37	chr7	94057038	94057038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctacagggctgaccagcctCgctcagcaccttctctcaga	8	9	8	16	1	4	2	2	1	2	1	6	2	4	2	3	1	3	3	3	1	1	2			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr7:94057038C>T	ENST00000297268.6	+	49	3838	c.3367C>T	c.(3367-3369)Cgc>Tgc	p.R1123C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1123				Missing (in Ref. 17; CAA23761). {ECO:0000305}.	blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		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)	TGACCAGCCTCGCTCAGCACC	0.552										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				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						c.(3367-3369)Cgc>Tgc		collagen, type I, alpha 2	Collagenase(DB00048)						98	97	98					7																	94057038		2203	4300	6503	SO:0001583	missense	1278				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	g.chr7:94057038C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3367C>T	7.37:g.94057038C>T	ENSP00000297268:p.Arg1123Cys	HNSCC(75;0.22)					p.R1123C	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		49	3838	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1123	Missing (in Ref. 17; CAA23761).				P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.3367C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530525	0.64860	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.89939	-2.59	5.71	5.71	0.89125	.	0.000000	0.56097	D	0.000040	D	0.90225	0.6944	N	0.22421	0.69	0.43819	D	0.99638	D	0.89917	1.0	D	0.74023	0.982	D	0.90829	0.4715	10	0.62326	D	0.03	.	15.7376	0.77859	0.0:1.0:0.0:0.0	.	1123	P08123	CO1A2_HUMAN	C	1123;1124	ENSP00000297268:R1123C	ENSP00000297268:R1123C	R	+	1	0	COL1A2	93894974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.549000	0.53681	2.873000	0.98535	0.561000	0.74099	CGC		0.552	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		32	25	0	0	0	1	0	32	25					T	94057038	C	T	94057038	3	4	463	1	0	0	0	0	1	0	0	0	3678	884	31	2	3561	2	COL1A2	7	94057038	Missense_Mutation	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08	70743271	94057038	65081625	29	31401											
IFNA16	3449	broad.mit.edu	37	chr9	21217216	21217216	+	Frame_Shift_Del	DEL	T	T	-																															ccctcctattacccaggctgTgagtctgaggcagatcacag																										TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr9:21217216delT	ENST00000380216.1	-	1	94	c.89delA	c.(88-90)cacfs	p.H30fs		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	30					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			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)		ACCCAGGCTGTGAGTCTGAGG	0.507																																						ENST00000380216.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13						c.(88-90)ccfs		interferon, alpha 16							95	95	95					9																	21217216		2203	4300	6503	SO:0001589	frameshift_variant	3449				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	g.chr9:21217216delT		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"Interferons"	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.89delA	9.37:g.21217216delT	ENSP00000369564:p.His30fs						p.H30fs	NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	94	-			30					Q5VV12	Frame_Shift_Del	DEL	ENST00000380216.1	37	c.89delA	CCDS34996.1																																																																																				0.507	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		42	100						42	100	---	---	---	---	-	21217216	T	-	21217216	7	5	463	1	0	1	0	1	0	0	0	0	7535	1696	59	0	484	0	IFNA16	9	21217216	Frame_Shift_Del	DEL	T	TCGA-YL-A8SL-01B-21D-A377-08		21217216	119996215	30	31402											
IDE	3416	broad.mit.edu	37	chr10	94269859	94269859	+	Frame_Shift_Del	DEL	T	T	-																															gaaattctggcaatggaacaTttttgttctctacttcagaa																										TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr10:94269859delT	ENST00000265986.6	-	6	901	c.845delA	c.(844-846)aatfs	p.N282fs		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	282					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	CAATGGAACATTTTTGTTCTC	0.318																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(844-846)atfs		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						137	143	141					10																	94269859		2203	4299	6502	SO:0001589	frameshift_variant	3416				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	g.chr10:94269859delT	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.845delA	10.37:g.94269859delT	ENSP00000265986:p.Asn282fs						p.N282fs	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			6	901	-			282					B2R721|B7ZAU2|D3DR35|Q5T5N2	Frame_Shift_Del	DEL	ENST00000265986.6	37	c.845delA	CCDS7421.1																																																																																				0.318	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		13	62						13	62	---	---	---	---	-	94269859	T	-	94269859	7	5	463	1	0	1	0	1	0	0	0	0	7493	1493	52	0	2294	0	IDE	10	94269859	Frame_Shift_Del	DEL	T	TCGA-YL-A8SL-01B-21D-A377-08		94269859	41264888	31	31403											
ARHGAP20	57569	broad.mit.edu	37	chr11	110479773	110479773	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actggtaatctctctcagagCccttagagataaaagagtta	14	11	8	8	0	2	3	1	0	2	3	4	4	2	3	1	1	1	2	1	1	5	4			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr11:110479773C>T	ENST00000260283.4	-	9	994	c.710G>A	c.(709-711)gGc>gAc	p.G237D	ARHGAP20_ENST00000524756.1_Splice_Site_p.G214D|ARHGAP20_ENST00000528829.1_Splice_Site_p.G201D|ARHGAP20_ENST00000533353.1_Splice_Site_p.G211D|ARHGAP20_ENST00000527598.1_Splice_Site_p.G201D|ARHGAP20_ENST00000357139.3_Splice_Site_p.G211D	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	237	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			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)		TCTCTCAGAGCCCTTAGAGAT	0.373																																						ENST00000260283.4																			0				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						c.e9-1		Rho GTPase activating protein 20							102	113	110					11																	110479773		2201	4298	6499	SO:0001630	splice_region_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110479773C>T	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.709-1G>A	11.37:g.110479773C>T						ARHGAP20_ENST00000527598.1_Splice_Site_p.G201_splice|ARHGAP20_ENST00000357139.3_Splice_Site_p.G211_splice|ARHGAP20_ENST00000533353.1_Splice_Site_p.G211_splice|ARHGAP20_ENST00000528829.1_Splice_Site_p.G201_splice|ARHGAP20_ENST00000524756.1_Splice_Site_p.G214_splice	p.G237_splice	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		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)	9	994	-		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)	237			Ras-associating.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Splice_Site	SNP	ENST00000260283.4	37	c.708_splice	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961773	0.74016	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.76	5.76	0.90799	Ras-association (2);	0.044086	0.85682	D	0.000000	T	0.77336	0.4115	L	0.59436	1.845	0.48901	D	0.999724	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.72924	-0.4144	10	0.36615	T	0.2	.	19.9345	0.97131	0.0:1.0:0.0:0.0	.	237;214	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	D	237;211;214;201;211;201	ENSP00000260283:G237D;ENSP00000349660:G211D;ENSP00000432076:G214D;ENSP00000436319:G201D;ENSP00000436522:G211D;ENSP00000431399:G201D	ENSP00000260283:G237D	G	-	2	0	ARHGAP20	109984983	1.000000	0.71417	0.999000	0.59377	0.597000	0.36814	4.939000	0.63526	2.882000	0.98803	0.655000	0.94253	GGC		0.373	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809	Missense_Mutation	51	65	0	0	0	1	0	51	65					T	110479773	C	T	110479773	5	4	463	1	0	0	0	0	0	0	1	0	870	753	26	3	2897	3	ARHGAP20	11	110479773	Splice_Site	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08		110479773	24526743	32	31404											
POTEG	404785	broad.mit.edu	37	chr14	19553754	19553754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccctgctgcagggggagcgGcaagagcaaagtgggccctt	8	5	16	12	1	0	1	0	0	0	1	0	2	0	2	3	4	4	4	3	4	2	1			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr14:19553754G>A	ENST00000409832.3	+	1	390	c.338G>A	c.(337-339)gGc>gAc	p.G113D		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	113										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGGGGGAGCGGCAAGAGCAAA	0.597																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(337-339)gGc>gAc		POTE ankyrin domain family, member G							348	379	369					14																	19553754		2201	4298	6499	SO:0001583	missense	404785							g.chr14:19553754G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.338G>A	14.37:g.19553754G>A	ENSP00000386971:p.Gly113Asp						p.G113D	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	390	+			113					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.338G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	6.591	0.477486	0.12521	.	.	ENSG00000222036	ENST00000409832	T	0.28895	1.59	0.604	0.604	0.17547	.	.	.	.	.	T	0.30727	0.0774	L	0.58101	1.795	0.09310	N	1	P	0.43938	0.822	B	0.43575	0.424	T	0.16867	-1.0388	8	0.59425	D	0.04	.	.	.	.	.	113	Q6S5H5	POTEG_HUMAN	D	113	ENSP00000386971:G113D	ENSP00000386971:G113D	G	+	2	0	POTEG	18623754	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	0.607000	0.24209	0.571000	0.29365	0.416000	0.27883	GGC		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		5	609	0	0	0	1	0	5	609					A	19553754	G	A	19553754	3	1	463	1	0	0	0	0	1	0	0	0	12266	1203	42	3	340	3	POTEG	14	19553754	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08		19553754	87795786	33	31405											
OR4L1	122742	broad.mit.edu	37	chr14	20528658	20528658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatactttcatggataattgGttttttacactccataagcc	11	16	6	8	0	1	0	1	0	0	0	2	2	2	1	2	2	3	1	2	2	4	8			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr14:20528658G>T	ENST00000315683.1	+	1	455	c.455G>T	c.(454-456)gGt>gTt	p.G152V		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G152V(1)		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)		TGGATAATTGGTTTTTTACAC	0.403																																						ENST00000315683.1																			1	Substitution - Missense(1)	p.G152V(1)	large_intestine(1)	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						c.(454-456)gGt>gTt		olfactory receptor, family 4, subfamily L, member 1							143	134	137					14																	20528658		2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528658G>T		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"GPCR / Class A : Olfactory receptors"	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.455G>T	14.37:g.20528658G>T	ENSP00000319217:p.Gly152Val						p.G152V	NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	455	+	all_cancers(95;0.00108)		152					Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.455G>T	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	10.46	1.355282	0.24512	.	.	ENSG00000176246	ENST00000315683	T	0.39056	1.1	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000025	T	0.73024	0.3534	H	0.94847	3.59	0.21256	N	0.999749	D	0.89917	1.0	D	0.91635	0.999	T	0.69895	-0.5021	10	0.87932	D	0	.	14.8025	0.69926	0.0:0.0:1.0:0.0	.	152	Q8NH43	OR4L1_HUMAN	V	152	ENSP00000319217:G152V	ENSP00000319217:G152V	G	+	2	0	OR4L1	19598498	0.996000	0.38824	0.615000	0.29064	0.091000	0.18340	4.483000	0.60264	2.423000	0.82170	0.650000	0.86243	GGT		0.403	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			48	34	1	0	2.77807e-22	1	2.9573e-22	48	34					T	20528658	G	T	20528658	3	4	463	1	0	0	0	0	1	0	0	0	11074	1261	44	5	457	5	OR4L1	14	20528658	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08	974904	20528658	86820882	34	31406											
CSNK1G1	53944	broad.mit.edu	37	chr15	64464144	64464144	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactggtcacttgtggcgctGagcagtcttcttccttttcc	4	15	9	13	1	3	1	1	1	2	0	5	1	5	1	2	2	1	2	2	2	0	5			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr15:64464144G>A	ENST00000303052.7	-	12	1678	c.1255C>T	c.(1255-1257)Cag>Tag	p.Q419*	CSNK1G1_ENST00000607537.1_Intron	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	419					Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TTGTGGCGCTGAGCAGTCTTC	0.547																																						ENST00000303052.7																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						c.(1255-1257)Cag>Tag		casein kinase 1, gamma 1							110	117	115					15																	64464144		2054	4207	6261	SO:0001587	stop_gained	53944				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:64464144G>A	AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.1255C>T	15.37:g.64464144G>A	ENSP00000305777:p.Gln419*					CSNK1G1_ENST00000607537.1_Intron	p.Q419*	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN			12	1678	-			419					Q5JPH1|Q96AE9|Q9HCP1	Nonsense_Mutation	SNP	ENST00000303052.7	37	c.1255C>T	CCDS10192.2	.	.	.	.	.	.	.	.	.	.	G	38	7.081683	0.98051	.	.	ENSG00000169118	ENST00000303052;ENST00000447727	.	.	.	5.66	5.66	0.87406	.	0.422190	0.27730	N	0.018086	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.7417	0.96234	0.0:0.0:1.0:0.0	.	.	.	.	X	419;375	.	ENSP00000305777:Q419X	Q	-	1	0	CSNK1G1	62251197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.278000	0.72614	2.661000	0.90470	0.655000	0.94253	CAG		0.547	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1	NM_022048		38	68	0	0	0	1	0	38	68					A	64464144	G	A	64464144	4	1	463	1	0	0	0	0	0	1	0	0	3954	1299	45	3	17	3	CSNK1G1	15	64464144	Nonsense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08		64464144	38067248	35	31407											
TXNDC11	51061	broad.mit.edu	37	chr16	11785821	11785821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgggtctggcagctgtgccgGcacttccagggccagggact	5	7	16	13	2	1	0	0	0	1	0	2	1	2	1	3	5	2	3	3	5	0	1	rs554000148		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr16:11785821G>A	ENST00000356957.3	-	9	1413	c.1306C>T	c.(1306-1308)Ccg>Tcg	p.P436S	TXNDC11_ENST00000570917.1_5'Flank|TXNDC11_ENST00000283033.5_Missense_Mutation_p.P409S			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	436					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGCTGTGCCGGCACTTCCAGG	0.642																																						ENST00000356957.3																			0				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1306-1308)Ccg>Tcg		thioredoxin domain containing 11							35	35	35					16																	11785821		2197	4299	6496	SO:0001583	missense	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11785821G>A	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"EF-hand binding protein 1"					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1306C>T	16.37:g.11785821G>A	ENSP00000349439:p.Pro436Ser					TXNDC11_ENST00000283033.5_Missense_Mutation_p.P409S	p.P436S			Q6PKC3	TXD11_HUMAN			9	1413	-			436					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37	c.1306C>T		.	.	.	.	.	.	.	.	.	.	G	0.569	-0.841973	0.02671	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.39997	1.05;1.05	5.39	5.39	0.77823	.	0.680316	0.14863	N	0.293947	T	0.38983	0.1061	M	0.62723	1.935	0.09310	N	1	B;P	0.42692	0.304;0.787	B;B	0.36666	0.036;0.23	T	0.42172	-0.9467	10	0.10377	T	0.69	-13.7352	16.303	0.82832	0.0:0.0:1.0:0.0	.	436;409	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	S	436;409	ENSP00000349439:P436S;ENSP00000283033:P409S	ENSP00000283033:P409S	P	-	1	0	TXNDC11	11693322	0.450000	0.25697	0.005000	0.12908	0.020000	0.10135	4.330000	0.59266	2.509000	0.84616	0.561000	0.74099	CCG		0.642	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		3	31	0	0	0	1	0	3	31					A	11785821	G	A	11785821	3	1	463	1	0	0	0	0	1	0	0	0	16789	1203	42	3	1671	3	TXNDC11	16	11785821	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08		11785821	78568932	36	31408											
RBL2	5934	broad.mit.edu	37	chr16	53487463	53487463	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgatggcctagttttggAagcaaaggggataaaggaac	15	8	13	5	0	0	1	0	1	0	0	0	4	0	4	1	5	2	2	1	5	6	4			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr16:53487463A>G	ENST00000262133.6	+	6	1003	c.866A>G	c.(865-867)gAa>gGa	p.E289G	RBL2_ENST00000544545.1_Missense_Mutation_p.E73G|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	289					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTAGTTTTGGAAGCAAAGGGG	0.358																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(865-867)gAa>gGa		retinoblastoma-like 2 (p130)							112	114	114					16																	53487463		2198	4300	6498	SO:0001583	missense	5934				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	g.chr16:53487463A>G	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.866A>G	16.37:g.53487463A>G	ENSP00000262133:p.Glu289Gly					RBL2_ENST00000544545.1_Missense_Mutation_p.E73G|RBL2_ENST00000379935.4_3'UTR	p.E289G	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			6	1003	+			289					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.866A>G	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.449887	0.63290	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000544545	D;D;D	0.91945	-2.94;-2.71;-2.27	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.96172	0.8752	M	0.85462	2.755	0.58432	D	0.999998	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.97110	0.991;1.0;0.994	D	0.96843	0.9619	10	0.87932	D	0	-16.3863	14.5267	0.67894	1.0:0.0:0.0:0.0	.	73;289;289	B7Z913;Q8NE70;Q08999	.;.;RBL2_HUMAN	G	289;215;73	ENSP00000262133:E289G;ENSP00000443744:E215G;ENSP00000444685:E73G	ENSP00000262133:E289G	E	+	2	0	RBL2	52044964	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.713000	0.91408	1.815000	0.52974	0.402000	0.26972	GAA		0.358	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		19	76	0	0	0	1	0	19	76					G	53487463	A	G	53487463	3	3	463	1	0	0	0	0	1	0	0	0	13110	246	9	4	888	4	RBL2	16	53487463	Missense_Mutation	SNP	A	TCGA-YL-A8SL-01B-21D-A377-08	41701642	53487463	36867290	37	31409											
PRSS54	221191	broad.mit.edu	37	chr16	58314536	58314536	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggatgtgatccatttgctGtagtcttccaccttggtgta	6	17	10	8	0	1	1	0	1	1	0	3	2	3	2	3	2	1	3	3	2	2	6	rs367759301		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr16:58314536G>A	ENST00000219301.4	-	7	1174	c.780C>T	c.(778-780)taC>taT	p.Y260Y	PRSS54_ENST00000567164.1_Silent_p.Y260Y|CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000543437.1_Silent_p.Y161Y|CCDC113_ENST00000219299.4_3'UTR	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	260	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCATTTGCTGTAGTCTTCCA	0.547													G|||	1	0.000199681	0	0	5008	,	,		18386	0.001		0	False		,,,				2504	0					ENST00000219301.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(778-780)taC>taT		protease, serine, 54		G	,,	0,4396		0,0,2198	67	67	67		780,,	2.8	1	16		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3,utr-3	CCDC113,PRSS54	NM_001080492.1,NM_001142302.1,NM_014157.3	,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,,	260/396,,	58314536	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58314536G>A	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"Serine peptidases / Serine peptidases"	26336	protein-coding gene	gene with protein product	"cancer/testis antigen 67"					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.780C>T	16.37:g.58314536G>A						CCDC113_ENST00000219299.4_3'UTR|PRSS54_ENST00000543437.1_Silent_p.Y161Y|PRSS54_ENST00000567164.1_Silent_p.Y260Y|CCDC113_ENST00000443128.2_3'UTR	p.Y260Y	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN			7	1174	-			260			Peptidase S1.		Q96LN9|Q9NT77	Silent	SNP	ENST00000219301.4	37	c.780C>T	CCDS32463.1																																																																																				0.547	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492		15	11	0	0	0	1	0	15	11					A	58314536	G	A	58314536	2	1	463	1	0	0	0	0	0	0	0	1	12633	1372	48	3		3	PRSS54	16	58314536	Silent	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08	4827073	58314536	32040217	38	31410											
NLRP1	22861	broad.mit.edu	37	chr17	5462409	5462409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgtgagtttttccttcCgcttcatctgctgcatcagg	5	16	9	11	1	4	1	3	1	1	0	6	1	6	1	2	1	2	4	2	1	0	4	rs138756363		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr17:5462409C>T	ENST00000572272.1	-	4	1606	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q	NLRP1_ENST00000354411.3_Missense_Mutation_p.R536Q|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.R536Q|NLRP1_ENST00000262467.5_Missense_Mutation_p.R536Q|NLRP1_ENST00000269280.4_Missense_Mutation_p.R536Q|NLRP1_ENST00000345221.3_Missense_Mutation_p.R536Q			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	536	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			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)				TTTTTCCTTCCGCTTCATCTG	0.547													c|||	1	0.000199681	0	0	5008	,	,		17225	0.001		0	False		,,,				2504	0					ENST00000345221.3																			0				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						c.(1606-1608)cGg>cAg		NLR family, pyrin domain containing 1		T	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	127	106	113		1607,1607,1607,1607,1607	-8.8	0	17	dbSNP_134	113	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	NLRP1	NM_001033053.2,NM_014922.4,NM_033004.3,NM_033006.3,NM_033007.3	43,43,43,43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign,benign,benign	536/1376,536/1430,536/1474,536/1444,536/1400	5462409	2,13004	2203	4300	6503	SO:0001583	missense	22861				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	g.chr17:5462409C>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1607G>A	17.37:g.5462409C>T	ENSP00000460475:p.Arg536Gln					NLRP1_ENST00000262467.5_Missense_Mutation_p.R536Q|NLRP1_ENST00000354411.3_Missense_Mutation_p.R536Q|NLRP1_ENST00000572272.1_Missense_Mutation_p.R536Q|NLRP1_ENST00000269280.4_Missense_Mutation_p.R536Q|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.R536Q	p.R536Q	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			4	2161	-		Colorectal(1115;3.48e-05)	536			NACHT.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.1607G>A	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	c	0.237	-1.016225	0.02078	4.54E-4	0.0	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.69806	-0.43;-0.43;-0.42;-0.41;-0.42	4.38	-8.76	0.00830	NACHT nucleoside triphosphatase (1);	2.205680	0.02159	N	0.058626	T	0.42787	0.1218	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B	0.17667	0.023;0.023;0.014;0.023;0.014	B;B;B;B;B	0.10450	0.005;0.005;0.002;0.005;0.003	T	0.48246	-0.9052	10	0.05721	T	0.95	.	10.3012	0.43653	0.0:0.1425:0.2094:0.6482	.	536;536;536;536;536	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	Q	536	ENSP00000442029:R536Q;ENSP00000262467:R536Q;ENSP00000269280:R536Q;ENSP00000346390:R536Q;ENSP00000324366:R536Q	ENSP00000262467:R536Q	R	-	2	0	NLRP1	5403133	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.770000	0.00371	-2.901000	0.00312	-1.768000	0.00664	CGG		0.547	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		42	31	0	0	0	1	0	42	31					T	5462409	C	T	5462409	3	4	463	1	0	0	0	0	1	0	0	0	10471	652	23	2	2945	2	NLRP1	17	5462409	Missense_Mutation	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08		5462409	75732801	39	31411											
C17orf48	56985	broad.mit.edu	37	chr17	10614356	10614356	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctccagacagccaagcCtttggcacagttcatgtcta	11	9	8	13	0	2	1	1	0	1	1	3	1	3	1	3	1	3	3	3	1	2	3			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr17:10614356C>G	ENST00000379774.4	+	4	1015	c.924C>G	c.(922-924)gcC>gcG	p.A308A	ADPRM_ENST00000609540.1_3'UTR	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	308							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										ACAGCCAAGCCTTTGGCACAG	0.438																																						ENST00000379774.4																			0											c.(922-924)gcC>gcG		ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent							129	120	123					17																	10614356		2203	4300	6503	SO:0001819	synonymous_variant	56985							g.chr17:10614356C>G	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 48"	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.924C>G	17.37:g.10614356C>G							p.A308A	NM_020233.4	NP_064618.3					4	1015	+								A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Silent	SNP	ENST00000379774.4	37	c.924C>G	CCDS11159.2																																																																																				0.438	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233		25	20	0	0	0	1	0	25	20					G	10614356	C	G	10614356	2	3	463	1	0	0	0	0	0	0	0	1	1859	668	24	5		5	C17orf48	17	10614356	Silent	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08	5151947	10614356	70580854	40	31412											
MAP2K4	6416	broad.mit.edu	37	chr17	11998899	11998899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattcttttccagagaattcGgtcaacagtggatgaaaaag	14	11	9	7	1	2	2	1	1	1	1	4	4	3	3	1	2	1	0	1	2	4	4			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr17:11998899G>A	ENST00000353533.5	+	4	464	c.401G>A	c.(400-402)cGg>cAg	p.R134Q	MAP2K4_ENST00000415385.3_Missense_Mutation_p.R145Q|MAP2K4_ENST00000581941.1_3'UTR	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.R134Q(1)|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)		CAGAGAATTCGGTCAACAGTG	0.333			"D, Mis, N"		"pancreatic, breast, colorectal"																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"D, Mis, N"	mitogen-activated protein kinase kinase 4			E			"pancreatic, breast, colorectal"		12	Whole gene deletion(10)|Substitution - Missense(1)|Unknown(1)	p.0?(10)|p.R134Q(1)|p.?(1)	ovary(4)|breast(4)|large_intestine(2)|biliary_tract(1)|pancreas(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						c.(433-435)cGg>cAg		mitogen-activated protein kinase kinase 4							118	114	115					17																	11998899		2203	4300	6503	SO:0001583	missense	6416				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	g.chr17:11998899G>A	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.401G>A	17.37:g.11998899G>A	ENSP00000262445:p.Arg134Gln					MAP2K4_ENST00000353533.5_Missense_Mutation_p.R134Q	p.R145Q			P45985	MP2K4_HUMAN		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)	5	487	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	134			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.434G>A	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	G	33	5.245099	0.95272	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.65364	-0.15;-0.15	5.97	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	L	0.45352	1.415	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.996	D;D;D	0.65140	0.93;0.917;0.932	T	0.71556	-0.4557	10	0.72032	D	0.01	.	13.5397	0.61666	0.0757:0.0:0.9243:0.0	.	6;145;134	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	Q	134;145;111;6	ENSP00000262445:R134Q;ENSP00000410402:R145Q	ENSP00000262445:R134Q	R	+	2	0	MAP2K4	11939624	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.022000	0.88759	2.835000	0.97688	0.591000	0.81541	CGG		0.333	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			9	39	0	0	0	1	0	9	39					A	11998899	G	A	11998899	3	1	463	1	0	0	0	0	1	0	0	0	9239	1116	39	2	415	2	MAP2K4	17	11998899	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08	1384543	11998899	69196311	41	31413											
SLC16A6	9120	broad.mit.edu	37	chr17	66274395	66274395	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagctaccgcccagccccAtcctccatcaggcacttcag	10	6	6	19	1	2	0	2	0	0	0	4	0	4	0	6	1	4	2	6	1	2	2			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr17:66274395A>G	ENST00000327268.4	-	3	231	c.67T>C	c.(67-69)Tgg>Cgg	p.W23R	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.W23R	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	23					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			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)	GCCCAGCCCCATCCTCCATCA	0.378																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(67-69)Tgg>Cgg		solute carrier family 16, member 6	Pyruvic acid(DB00119)						91	90	90					17																	66274395		2203	4300	6503	SO:0001583	missense	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66274395A>G	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"Solute carriers"	10927	protein-coding gene	gene with protein product		603880	"solute carrier family 16 (monocarboxylic acid transporters), member 6", "solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.67T>C	17.37:g.66274395A>G	ENSP00000319991:p.Trp23Arg					ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.W23R	p.W23R	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	231	-	all_cancers(12;1.24e-09)		23					Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	c.67T>C	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.704204	0.30232	.	.	ENSG00000108932	ENST00000327268	T	0.56444	0.46	5.18	5.18	0.71444	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.73241	0.3562	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77864	-0.2429	10	0.87932	D	0	.	14.4929	0.67665	1.0:0.0:0.0:0.0	.	23	O15403	MOT7_HUMAN	R	23	ENSP00000319991:W23R	ENSP00000319991:W23R	W	-	1	0	SLC16A6	63785990	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	8.641000	0.91032	2.081000	0.62600	0.533000	0.62120	TGG		0.378	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		29	38	0	0	0	1	0	29	38					G	66274395	A	G	66274395	3	3	463	1	0	0	0	0	1	0	0	0	14412	217	8	4	1524	4	SLC16A6	17	66274395	Missense_Mutation	SNP	A	TCGA-YL-A8SL-01B-21D-A377-08	54275496	66274395	14920815	42	31414											
EPB41L3	23136	broad.mit.edu	37	chr18	5395093	5395093	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaatgtctgcatccccCgtgatgactattcgcttctc	6	14	8	13	2	3	2	1	2	2	0	6	2	4	2	2	1	1	2	2	1	2	3	rs144676596		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr18:5395093C>T	ENST00000341928.2	-	21	3466	c.3126G>A	c.(3124-3126)acG>acA	p.T1042T	EPB41L3_ENST00000540638.2_Silent_p.T820T|EPB41L3_ENST00000427684.2_Silent_p.T339T|EPB41L3_ENST00000342933.3_Silent_p.T1042T|EPB41L3_ENST00000400111.3_Silent_p.T820T|EPB41L3_ENST00000544123.1_Silent_p.T873T|EPB41L3_ENST00000542146.1_Silent_p.T347T|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1042	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.T1042T(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						CTGCATCCCCCGTGATGACTA	0.448																																						ENST00000341928.2																			1	Substitution - coding silent(1)	p.T1042T(1)	lung(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						c.(3124-3126)acG>acA		erythrocyte membrane protein band 4.1-like 3		C		2,4404	4.2+/-10.8	0,2,2201	150	128	136		3126	-11.9	0.8	18	dbSNP_134	136	0,8600		0,0,4300	no	coding-synonymous	EPB41L3	NM_012307.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		1042/1088	5395093	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5395093C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3126G>A	18.37:g.5395093C>T						EPB41L3_ENST00000400111.3_Silent_p.T820T|EPB41L3_ENST00000544123.1_Silent_p.T873T|EPB41L3_ENST00000342933.3_Silent_p.T1042T|EPB41L3_ENST00000540638.2_Silent_p.T820T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Silent_p.T347T|EPB41L3_ENST00000427684.2_Silent_p.T339T	p.T1042T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			21	3466	-			1042			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.3126G>A	CCDS11838.1																																																																																				0.448	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		4	51	0	0	0	1	0	4	51					T	5395093	C	T	5395093	2	4	463	1	0	0	0	0	0	0	0	1	5154	639	23	2		2	EPB41L3	18	5395093	Silent	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08		5395093	72682155	43	31415											
CLPTM1	1209	broad.mit.edu	37	chr19	45490584	45490584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccactctcgctttggcGctggcagctctatgctgccc	3	11	10	17	2	2	0	0	0	2	0	3	0	2	0	2	2	4	5	2	2	1	2			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr19:45490584G>A	ENST00000337392.5	+	8	1091	c.941G>A	c.(940-942)cGc>cAc	p.R314H	CLPTM1_ENST00000541297.2_Missense_Mutation_p.R300H|CLPTM1_ENST00000546079.1_Missense_Mutation_p.R212H|CLPTM1_ENST00000589158.1_3'UTR	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	314					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCGCTTTGGCGCTGGCAGCTC	0.587																																						ENST00000541297.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(898-900)cGc>cAc		cleft lip and palate associated transmembrane protein 1							93	92	93					19																	45490584		2203	4300	6503	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45490584G>A	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.941G>A	19.37:g.45490584G>A	ENSP00000336994:p.Arg314His					CLPTM1_ENST00000546079.1_Missense_Mutation_p.R212H|CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000337392.5_Missense_Mutation_p.R314H	p.R300H			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	8	1364	+		all_neural(266;0.224)|Ovarian(192;0.231)	314					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.899G>A	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855345	0.91355	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	4.64	4.64	0.57946	.	0.057152	0.64402	D	0.000002	T	0.76371	0.3978	M	0.69185	2.1	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.73380	0.967;0.98;0.98	T	0.78455	-0.2197	9	0.59425	D	0.04	-27.0067	15.1028	0.72296	0.0:0.0:1.0:0.0	.	300;314;314	F5H8J3;B3KQH2;O96005	.;.;CLPT1_HUMAN	H	212;300;314;314	.	ENSP00000336994:R314H	R	+	2	0	CLPTM1	50182424	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.058000	0.93896	2.426000	0.82243	0.558000	0.71614	CGC		0.587	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		12	47	0	0	0	1	0	12	47					A	45490584	G	A	45490584	3	1	463	1	0	0	0	0	1	0	0	0	3554	1087	38	1	971	1	CLPTM1	19	45490584	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08		45490584	13638399	44	31416											
GPR32	2854	broad.mit.edu	37	chr19	51274218	51274218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaactctacatcacctttGtgttcctcagctactttgcc	8	14	5	14	0	3	0	2	0	1	0	4	0	4	0	3	0	5	3	3	0	3	5			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr19:51274218G>T	ENST00000270590.4	+	1	498	c.361G>T	c.(361-363)Gtg>Ttg	p.V121L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	121					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CATCACCTTTGTGTTCCTCAG	0.537																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(361-363)Gtg>Ttg		G protein-coupled receptor 32							190	179	183					19																	51274218		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274218G>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"GPCR / Class A : Resolvin receptors"	4487	protein-coding gene	gene with protein product	"resolvin D1 receptor"	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.361G>T	19.37:g.51274218G>T	ENSP00000270590:p.Val121Leu						p.V121L	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	498	+		all_neural(266;0.131)	121					Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.361G>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	G	3.073	-0.190597	0.06299	.	.	ENSG00000142511	ENST00000270590	T	0.36520	1.25	2.73	-2.18	0.07037	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.19127	0.0459	N	0.13327	0.33	0.09310	N	1	B	0.29766	0.256	B	0.37943	0.261	T	0.33163	-0.9879	9	0.30854	T	0.27	.	1.4546	0.02382	0.1789:0.2608:0.3925:0.1678	.	121	O75388	GPR32_HUMAN	L	121	ENSP00000270590:V121L	ENSP00000270590:V121L	V	+	1	0	GPR32	55966030	0.000000	0.05858	0.163000	0.22734	0.313000	0.28021	-0.126000	0.10563	-0.064000	0.13043	0.313000	0.20887	GTG		0.537	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			36	27	1	0	4.14481e-20	1	4.34218e-20	36	27					T	51274218	G	T	51274218	3	4	463	1	0	0	0	0	1	0	0	0	6688	1377	48	5	363	5	GPR32	19	51274218	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08	5783634	51274218	7854765	45	31417											
LILRB1	10859	broad.mit.edu	37	chr19	55143638	55143638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatgcttatgactcgaactCtccctatgagtggtctctac	8	14	7	12	1	2	2	0	2	2	0	5	3	2	2	1	1	3	1	1	1	5	4			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr19:55143638C>T	ENST00000396331.1	+	6	968	c.611C>T	c.(610-612)tCt>tTt	p.S204F	LILRB1_ENST00000418536.2_Missense_Mutation_p.S204F|LILRB1_ENST00000396321.2_Missense_Mutation_p.S204F|LILRB1_ENST00000396332.4_Missense_Mutation_p.S204F|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396317.1_Missense_Mutation_p.S204F|LILRB1_ENST00000427581.2_Missense_Mutation_p.S240F|LILRB1_ENST00000396315.1_Missense_Mutation_p.S204F|LILRB1_ENST00000434867.2_Missense_Mutation_p.S204F|LILRB1_ENST00000396327.3_Missense_Mutation_p.S204F|LILRB1_ENST00000324602.7_Missense_Mutation_p.S204F|LILRB1_ENST00000448689.1_Missense_Mutation_p.S204F	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	204	Ig-like C2-type 2.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			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)		GACTCGAACTCTCCCTATGAG	0.602										HNSCC(37;0.09)																												ENST00000396331.1																			0				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						c.(610-612)tCt>tTt		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							159	156	157					19																	55143638		2203	4300	6503	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143638C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.611C>T	19.37:g.55143638C>T	ENSP00000379622:p.Ser204Phe	HNSCC(37;0.09)				LILRB1_ENST00000448689.1_Missense_Mutation_p.S204F|LILRB1_ENST00000434867.2_Missense_Mutation_p.S204F|LILRB1_ENST00000396321.2_Missense_Mutation_p.S204F|LILRB1_ENST00000396332.4_Missense_Mutation_p.S204F|LILRB1_ENST00000396315.1_Missense_Mutation_p.S204F|LILRB1_ENST00000418536.2_Missense_Mutation_p.S204F|LILRB1_ENST00000324602.7_Missense_Mutation_p.S204F|LILRB1_ENST00000396317.1_Missense_Mutation_p.S204F|LILRB1_ENST00000396327.3_Missense_Mutation_p.S204F|LILRB1_ENST00000427581.2_Missense_Mutation_p.S240F	p.S204F	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	6	968	+			204			Ig-like C2-type 2.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.611C>T	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	0.399	-0.919507	0.02396	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86	1.57	-3.14	0.05250	Immunoglobulin-like fold (1);	3.116130	0.00941	N	0.002821	T	0.28167	0.0695	M	0.63428	1.95	0.09310	N	1	B;B;B;B;B	0.18741	0.03;0.002;0.005;0.008;0.002	B;B;B;B;B	0.28465	0.09;0.01;0.007;0.025;0.003	T	0.30707	-0.9969	10	0.62326	D	0.03	.	4.3027	0.10932	0.3303:0.4937:0.1759:0.0	.	204;204;204;204;204	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	F	204;204;204;204;204;204;204;204;240;204;204	ENSP00000379614:S204F;ENSP00000391514:S204F;ENSP00000409968:S204F;ENSP00000379622:S204F;ENSP00000379618:S204F;ENSP00000315997:S204F;ENSP00000405243:S204F;ENSP00000379623:S204F;ENSP00000395004:S240F;ENSP00000379610:S204F;ENSP00000379608:S204F	ENSP00000315997:S204F	S	+	2	0	LILRB1	59835450	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.281000	0.00528	-1.184000	0.02720	-1.296000	0.01341	TCT		0.602	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			14	60	0	0	0	1	0	14	60					T	55143638	C	T	55143638	3	4	463	1	0	0	0	0	1	0	0	0	8790	913	32	3	625	3	LILRB1	19	55143638	Missense_Mutation	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08	3869420	55143638	3985345	46	31418											
TGM6	343641	broad.mit.edu	37	chr20	2384322	2384322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtttgcggaggtcaacGccgactacatcacctggctg	7	10	12	12	4	2	0	2	0	0	0	3	2	2	1	2	3	3	2	2	3	2	2			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr20:2384322G>A	ENST00000202625.2	+	9	1250	c.1189G>A	c.(1189-1191)Gcc>Acc	p.A397T	TGM6_ENST00000381423.1_Missense_Mutation_p.A397T	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	397					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GGAGGTCAACGCCGACTACAT	0.617																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(1189-1191)Gcc>Acc		transglutaminase 6	L-Glutamine(DB00130)						109	88	95					20																	2384322		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2384322G>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1189G>A	20.37:g.2384322G>A	ENSP00000202625:p.Ala397Thr					TGM6_ENST00000381423.1_Missense_Mutation_p.A397T	p.A397T	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			9	1250	+			397					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1189G>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174753	0.78452	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.73897	-0.79;-0.79	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.87497	0.6192	M	0.88310	2.945	0.35590	D	0.806985	D;D	0.89917	0.999;1.0	D;P	0.66979	0.948;0.894	D	0.92183	0.5753	10	0.87932	D	0	-19.2016	16.0187	0.80464	0.0:0.0:1.0:0.0	.	397;397	O95932-2;O95932	.;TGM3L_HUMAN	T	397	ENSP00000202625:A397T;ENSP00000370831:A397T	ENSP00000202625:A397T	A	+	1	0	TGM6	2332322	1.000000	0.71417	0.405000	0.26409	0.853000	0.48598	6.434000	0.73408	2.735000	0.93741	0.549000	0.68633	GCC		0.617	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		25	19	0	0	0	1	0	25	19					A	2384322	G	A	2384322	3	1	463	1	0	0	0	0	1	0	0	0	15831	1087	38	1	1223	1	TGM6	20	2384322	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08		2384322	60641198	47	31419											
NRIP1	8204	broad.mit.edu	37	chr21	16339649	16339649	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttgctgcttgatttgcatTttgcgtttttaaagcgtgtt	6	20	9	6	2	0	1	0	1	0	0	0	1	0	1	0	0	5	5	0	0	2	9			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr21:16339649T>C	ENST00000400202.1	-	3	1577	c.865A>G	c.(865-867)Aat>Gat	p.N289D	NRIP1_ENST00000400199.1_Missense_Mutation_p.N289D|NRIP1_ENST00000318948.4_Missense_Mutation_p.N289D			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	289	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			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)		TGATTTGCATTTTGCGTTTTT	0.448																																						ENST00000400202.1																			0				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						c.(865-867)Aat>Gat		nuclear receptor interacting protein 1							108	101	103					21																	16339649		2203	4300	6503	SO:0001583	missense	8204				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	g.chr21:16339649T>C	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.865A>G	21.37:g.16339649T>C	ENSP00000383063:p.Asn289Asp					NRIP1_ENST00000318948.4_Missense_Mutation_p.N289D|NRIP1_ENST00000400199.1_Missense_Mutation_p.N289D	p.N289D			P48552	NRIP1_HUMAN		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)	3	1577	-			289			Repression domain 1.		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.865A>G	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.099552	0.37048	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.08896	3.04;3.04;3.04	5.99	5.99	0.97316	.	0.331890	0.31976	N	0.006778	T	0.12050	0.0293	L	0.50333	1.59	0.32659	N	0.518337	P	0.39480	0.675	B	0.39258	0.295	T	0.04053	-1.0981	10	0.49607	T	0.09	-16.1196	16.4886	0.84191	0.0:0.0:0.0:1.0	.	289	P48552	NRIP1_HUMAN	D	289	ENSP00000383060:N289D;ENSP00000383063:N289D;ENSP00000327213:N289D	ENSP00000327213:N289D	N	-	1	0	NRIP1	15261520	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.209000	0.58493	2.294000	0.77228	0.528000	0.53228	AAT		0.448	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		32	54	0	0	0	1	0	32	54					C	16339649	T	C	16339649	3	2	463	1	0	0	0	0	1	0	0	0	10652	1841	64	4	2615	4	NRIP1	21	16339649	Missense_Mutation	SNP	T	TCGA-YL-A8SL-01B-21D-A377-08		16339649	31790246	48	31420											
PRDM15	63977	broad.mit.edu	37	chr21	43230589	43230589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacagctggcagctctgcGcctccaccttgtcgtgtgtg	4	10	12	15	3	1	0	0	0	1	0	3	0	2	0	3	1	3	4	3	1	0	1			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr21:43230589G>A	ENST00000269844.3	-	28	3781	c.3671C>T	c.(3670-3672)gCg>gTg	p.A1224V	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000422911.1_Missense_Mutation_p.A915V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A878V|PRDM15_ENST00000398548.1_Missense_Mutation_p.A895V|PRDM15_ENST00000447207.2_Missense_Mutation_p.A858V	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCAGCTCTGCGCCTCCACCTT	0.627																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(2743-2745)gCg>gTg		PR domain containing 15							102	65	77					21																	43230589		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43230589G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3671C>T	21.37:g.43230589G>A	ENSP00000269844:p.Ala1224Val					PRDM15_ENST00000538201.1_Missense_Mutation_p.A878V|PRDM15_ENST00000269844.3_Missense_Mutation_p.A1224V|PRDM15_ENST00000447207.2_Missense_Mutation_p.A858V|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.A895V	p.A915V			P57071	PRD15_HUMAN			22	2845	-			1224					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.2744C>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	g	28.2	4.901726	0.92035	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.08807	4.75;4.75;4.75;4.75;3.05	4.11	4.11	0.48088	Zinc finger, C2H2 (1);	.	.	.	.	T	0.18676	0.0448	L	0.31476	0.935	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.986;0.996	T	0.02885	-1.1098	9	0.87932	D	0	-18.5854	15.3339	0.74234	0.0:0.0:1.0:0.0	.	1224;915;895	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	V	915;895;878;858;1224	ENSP00000408592:A915V;ENSP00000381556:A895V;ENSP00000444044:A878V;ENSP00000390245:A858V;ENSP00000269844:A1224V	ENSP00000269844:A1224V	A	-	2	0	PRDM15	42103658	1.000000	0.71417	0.976000	0.42696	0.954000	0.61252	9.491000	0.97954	1.836000	0.53414	0.306000	0.20318	GCG		0.627	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		4	29	0	0	0	1	0	4	29					A	43230589	G	A	43230589	3	1	463	1	0	0	0	0	1	0	0	0	12456	1087	38	1	868	1	PRDM15	21	43230589	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08	26890940	43230589	4899306	49	31421											
PI4KA	5297	broad.mit.edu	37	chr22	21097023	21097023	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtcagacatctggcctgtGgtgcctgagaaccgaatcat	10	9	12	10	1	3	2	2	1	1	2	3	4	3	2	3	3	2	0	3	3	2	0			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr22:21097023G>T	ENST00000572273.1	-	31	3542	c.3312C>A	c.(3310-3312)acC>acA	p.T1104T	PI4KA_ENST00000255882.6_Silent_p.T1162T			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1104					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			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)			TCTGGCCTGTGGTGCCTGAGA	0.478																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				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						c.(3484-3486)acC>acA		phosphatidylinositol 4-kinase, catalytic, alpha							243	188	207					22																	21097023		2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21097023G>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.3312C>A	22.37:g.21097023G>T						PI4KA_ENST00000572273.1_Silent_p.T1104T	p.T1162T	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		31	3572	-	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)	1104					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.3486C>A																																																																																					0.478	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		15	76	1	0	6.31663e-08	1	6.51402e-08	15	76					T	21097023	G	T	21097023	2	4	463	1	0	0	0	0	0	0	0	1	11873	1335	47	5		5	PI4KA	22	21097023	Silent	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08		21097023	30207543	50	31422											
MKL1	57591	broad.mit.edu	37	chr22	40813046	40813046	+	Frame_Shift_Del	DEL	T	T	-																															tctgctggcttgaggaaccaTtttcctgtgggacaaaggaa																										TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr22:40813046delT	ENST00000355630.3	-	14	2812	c.2222delA	c.(2221-2223)aatfs	p.N741fs	MKL1_ENST00000407029.1_Frame_Shift_Del_p.N741fs|MKL1_ENST00000396617.3_Frame_Shift_Del_p.N741fs|MKL1_ENST00000402042.1_Frame_Shift_Del_p.N691fs|RP5-1042K10.13_ENST00000609279.1_RNA	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	741	Pro-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			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						TGAGGAACCATTTTCCTGTGG	0.517			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				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						c.(2221-2223)atfs		megakaryoblastic leukemia (translocation) 1							52	46	48					22																	40813046		2201	4299	6500	SO:0001589	frameshift_variant	57591				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	g.chr22:40813046delT	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.2222delA	22.37:g.40813046delT	ENSP00000347847:p.Asn741fs					MKL1_ENST00000402042.1_Frame_Shift_Del_p.N691fs|MKL1_ENST00000407029.1_Frame_Shift_Del_p.N741fs|MKL1_ENST00000355630.3_Frame_Shift_Del_p.N741fs	p.N741fs			Q969V6	MKL1_HUMAN			14	2812	-			741			Pro-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Frame_Shift_Del	DEL	ENST00000355630.3	37	c.2222delA	CCDS14003.1																																																																																				0.517	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		2	4						2	4	---	---	---	---	-	40813046	T	-	40813046	7	5	463	1	0	1	0	1	0	0	0	0	9601	1493	52	0	581	0	MKL1	22	40813046	Frame_Shift_Del	DEL	T	TCGA-YL-A8SL-01B-21D-A377-08	19716023	40813046	10491520	51	31423											
USP9X	8239	broad.mit.edu	37	chrX	41082490	41082490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggcagagaagacacagCttctgaaattgagtgtacct	12	10	12	7	0	1	4	0	2	1	2	1	5	1	4	1	1	2	3	1	1	3	3			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chrX:41082490C>T	ENST00000324545.8	+	39	7219	c.6586C>T	c.(6586-6588)Ctt>Ttt	p.L2196F	USP9X_ENST00000378308.2_Missense_Mutation_p.L2196F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2196					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAAGACACAGCTTCTGAAATT	0.398																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(6586-6588)Ctt>Ttt		ubiquitin specific peptidase 9, X-linked							130	118	122					X																	41082490		2196	4300	6496	SO:0001583	missense	8239				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	g.chrX:41082490C>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6586C>T	X.37:g.41082490C>T	ENSP00000316357:p.Leu2196Phe					USP9X_ENST00000378308.2_Missense_Mutation_p.L2196F	p.L2196F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			39	7219	+			2196					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.6586C>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931674	0.92389	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.32988	1.43;1.43	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.60483	0.2272	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.65191	-0.6228	10	0.66056	D	0.02	.	18.483	0.90819	0.0:1.0:0.0:0.0	.	2196;2196	Q93008-1;Q93008	.;USP9X_HUMAN	F	2196	ENSP00000367558:L2196F;ENSP00000316357:L2196F	ENSP00000316357:L2196F	L	+	1	0	USP9X	40967434	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.629000	0.61290	2.307000	0.77673	0.594000	0.82650	CTT		0.398	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		34	5	0	0	0	1	0	34	5					T	41082490	C	T	41082490	3	4	463	1	0	0	0	0	1	0	0	0	17087	797	28	3	6736	3	USP9X	23	41082490	Missense_Mutation	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08		41082490	114188070	52	31424											
ELAVL4	1996	broad.mit.edu	37	chr1	50661330	50661330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcccagcggtgctacGgaaccgattactgtgaagtt	11	8	12	10	3	0	2	0	1	0	1	0	4	0	3	2	2	6	2	2	2	5	3	rs116732512		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:50661330G>A	ENST00000371823.4	+	5	830	c.606G>A	c.(604-606)acG>acA	p.T202T	ELAVL4_ENST00000371821.1_Silent_p.T207T|ELAVL4_ENST00000371824.1_Silent_p.T202T|ELAVL4_ENST00000357083.4_Silent_p.T219T|ELAVL4_ENST00000371819.1_Silent_p.T207T|ELAVL4_ENST00000371827.1_Silent_p.T202T|ELAVL4_ENST00000448907.2_Silent_p.T205T	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	202	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.T202T(1)|p.T219T(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GCGGTGCTACGGAACCGATTA	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		18269	0		0	False		,,,				2504	0					ENST00000371824.1																			2	Substitution - coding silent(2)	p.T202T(1)|p.T219T(1)	skin(2)	NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(604-606)acG>acA		ELAV like neuron-specific RNA binding protein 4		G	,,,,	4,4402	8.1+/-20.4	0,4,2199	111	112	111		606,657,606,615,606	-7.9	0.8	1	dbSNP_132	111	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ELAVL4	NM_001144774.1,NM_001144775.1,NM_001144776.1,NM_001144777.1,NM_021952.3	,,,,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,,,,	202/367,219/384,202/367,205/370,202/381	50661330	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50661330G>A	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"RNA binding motif (RRM) containing"	3315	protein-coding gene	gene with protein product	"Hu antigen D"	168360	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.606G>A	1.37:g.50661330G>A						ELAVL4_ENST00000371821.1_Silent_p.T207T|ELAVL4_ENST00000357083.4_Silent_p.T219T|ELAVL4_ENST00000448907.2_Silent_p.T205T|ELAVL4_ENST00000371827.1_Silent_p.T202T|ELAVL4_ENST00000371819.1_Silent_p.T207T|ELAVL4_ENST00000371823.4_Silent_p.T202T	p.T202T			P26378	ELAV4_HUMAN			5	863	+			202			RRM 2.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Silent	SNP	ENST00000371823.4	37	c.606G>A	CCDS553.1																																																																																				0.582	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		5	67	0	0	0	1	0	5	67					A	50661330	G	A	50661330	2	1	464	1	0	0	0	0	0	0	0	1	5052	1103	39	2		2	ELAVL4	1	50661330	Silent	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08		50661330	198589291	1	31425											
DNAJB4	11080	broad.mit.edu	37	chr1	78478968	78478968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaagagacaggaattctGtggggccatcccgcctcaaa	12	7	10	12	1	2	1	1	0	1	1	4	3	4	2	4	3	0	0	4	3	3	1			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:78478968G>T	ENST00000370763.5	+	2	702	c.445G>T	c.(445-447)Gtg>Ttg	p.V149L	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	149					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CAGGAATTCTGTGGGGCCATC	0.413																																						ENST00000370763.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(445-447)Gtg>Ttg		DnaJ (Hsp40) homolog, subfamily B, member 4							123	123	123					1																	78478968		2203	4300	6503	SO:0001583	missense	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78478968G>T	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"Heat shock proteins / DNAJ (HSP40)"	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.445G>T	1.37:g.78478968G>T	ENSP00000359799:p.Val149Leu					GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	p.V149L	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN			2	702	+			149					B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	c.445G>T	CCDS684.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264017	0.39995	.	.	ENSG00000162616	ENST00000426517;ENST00000370763	T;T	0.62941	-0.01;0.39	5.46	5.46	0.80206	.	0.622463	0.17026	N	0.189934	T	0.37999	0.1024	L	0.29908	0.895	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21245	-1.0251	10	0.19590	T	0.45	.	19.3687	0.94475	0.0:0.0:1.0:0.0	.	149	Q9UDY4	DNJB4_HUMAN	L	149	ENSP00000399494:V149L;ENSP00000359799:V149L	ENSP00000359799:V149L	V	+	1	0	DNAJB4	78251556	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.331000	0.79192	2.546000	0.85860	0.644000	0.83932	GTG		0.413	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			20	68	1	0	5.35267e-07	1	5.83927e-07	20	68					T	78478968	G	T	78478968	3	4	464	1	0	0	0	0	1	0	0	0	4622	1377	48	5	451	5	DNAJB4	1	78478968	Missense_Mutation	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08	27817638	78478968	170771653	2	31426											
HSD3B1	3283	broad.mit.edu	37	chr1	120056908	120056908	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcatccgaggacagttctaCtatatctcagatgacacgcc	12	9	8	12	2	2	2	1	1	2	1	4	4	3	3	2	1	2	2	2	1	3	4			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:120056908C>A	ENST00000369413.3	+	4	907	c.762C>A	c.(760-762)taC>taA	p.Y254*	HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.Y254*|HSD3B1_ENST00000235547.6_Nonsense_Mutation_p.Y256*			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	254					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	GACAGTTCTACTATATCTCAG	0.522																																						ENST00000235547.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(766-768)taC>taA		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)						69	73	72					1																	120056908		2203	4300	6503	SO:0001587	stop_gained	3283				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	g.chr1:120056908C>A	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.762C>A	1.37:g.120056908C>A	ENSP00000358421:p.Tyr254*					HSD3B1_ENST00000369413.3_Nonsense_Mutation_p.Y254*|HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.Y254*	p.Y256*	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	907	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	254					A8K691|Q14545|Q8IV65	Nonsense_Mutation	SNP	ENST00000369413.3	37	c.768C>A	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.716840	0.48622	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	.	.	.	3.26	-2.17	0.07059	.	0.059560	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1299	8.547	0.33429	0.0:0.3017:0.0:0.6983	.	.	.	.	X	254;256;254	.	ENSP00000235547:Y256X	Y	+	3	2	HSD3B1	119858431	0.987000	0.35691	0.990000	0.47175	0.312000	0.27988	0.266000	0.18534	-0.371000	0.08004	-0.657000	0.03884	TAC		0.522	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		18	62	1	0	1.67942e-08	1	1.86602e-08	18	62					A	120056908	C	A	120056908	4	1	464	1	0	0	0	0	0	1	0	0	7390	576	20	5	772	5	HSD3B1	1	120056908	Nonsense_Mutation	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08	41577940	120056908	129193713	3	31427											
TARS2	80222	broad.mit.edu	37	chr1	150468986	150468986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atccttatggaggtcttcagGggccccagagacactgcaga	10	8	12	11	0	2	2	1	0	1	2	3	4	3	3	3	4	1	1	3	4	1	2			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:150468986G>T	ENST00000369064.3	+	8	837	c.803G>T	c.(802-804)gGg>gTg	p.G268V	TARS2_ENST00000463555.1_Intron|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000606933.1_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	268					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	AGGTCTTCAGGGGCCCCAGAG	0.517																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(802-804)gGg>gTg		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						115	110	112					1																	150468986		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150468986G>T	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	30740	protein-coding gene	gene with protein product	"threonine tRNA ligase 2, mitochondrial"	612805	"threonyl-tRNA synthetase-like 1"	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.803G>T	1.37:g.150468986G>T	ENSP00000358060:p.Gly268Val					TARS2_ENST00000606933.1_Intron|TARS2_ENST00000463555.1_Intron|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Intron	p.G268V	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	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)		8	837	+	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)		268					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.803G>T	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723472	0.30593	.	.	ENSG00000143374	ENST00000369064	.	.	.	5.02	0.831	0.18860	Threonyl/alanyl tRNA synthetase, SAD (2);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.831895	0.11159	N	0.593226	T	0.04227	0.0117	N	0.05487	-0.04	0.09310	N	0.999992	B	0.34103	0.437	B	0.33846	0.171	T	0.32955	-0.9887	9	0.42905	T	0.14	-3.134	1.7989	0.03067	0.221:0.2524:0.3972:0.1295	.	268	Q9BW92	SYTM_HUMAN	V	268	.	ENSP00000358060:G268V	G	+	2	0	TARS2	148735610	0.668000	0.27493	0.000000	0.03702	0.947000	0.59692	1.230000	0.32612	-0.003000	0.14444	0.655000	0.94253	GGG		0.517	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		7	102	1	0	1.26484e-09	1	1.4319e-09	7	102					T	150468986	G	T	150468986	3	4	464	1	0	0	0	0	1	0	0	0	15557	1232	43	5	833	5	TARS2	1	150468986	Missense_Mutation	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08	30412078	150468986	98781635	4	31428											
CLK2	1196	broad.mit.edu	37	chr1	155239353	155239353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggctgctgcgctggctgcGgtaactgctgttctcccgct	2	11	13	15	4	1	0	0	0	1	0	2	0	1	0	2	3	5	8	2	3	1	2	rs139555196		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:155239353G>A	ENST00000368361.4	-	3	640	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	CLK2_ENST00000536801.1_Missense_Mutation_p.R109C|CLK2_ENST00000355560.4_Missense_Mutation_p.R108C|CLK2_ENST00000361168.5_Missense_Mutation_p.R109C|CLK2_ENST00000497188.1_5'Flank			P49760	CLK2_HUMAN	CDC-like kinase 2	109					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R109S(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCTGGCTGCGGTAACTGCTG	0.592								Other conserved DNA damage response genes																														ENST00000368361.4																			1	Substitution - Missense(1)	p.R109S(1)	lung(1)	endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(325-327)Cgc>Tgc	Other conserved DNA damage response genes	CDC-like kinase 2		G	CYS/ARG	1,4405		0,1,2202	111	103	106		325	4.6	1	1	dbSNP_134	106	0,8600		0,0,4300	no	missense	CLK2	NM_003993.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	109/499	155239353	1,13005	2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155239353G>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"CDC-like kinases"	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.325C>T	1.37:g.155239353G>A	ENSP00000357345:p.Arg109Cys					CLK2_ENST00000361168.5_Missense_Mutation_p.R109C|CLK2_ENST00000355560.4_Missense_Mutation_p.R108C|CLK2_ENST00000536801.1_Missense_Mutation_p.R109C	p.R109C			P49760	CLK2_HUMAN	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)		3	640	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		109					B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.325C>T		.	.	.	.	.	.	.	.	.	.	.	14.81	2.645084	0.47258	2.27E-4	0.0	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000536801	T;T;T;T	0.56776	0.47;0.46;0.44;0.46	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	M	0.70595	2.14	0.58432	D	0.999997	D;D	0.71674	0.997;0.998	B;P	0.50754	0.446;0.649	T	0.59016	-0.7533	10	0.72032	D	0.01	.	11.5254	0.50576	0.0:0.0:0.8209:0.1791	.	109;109	P49760;P49760-3	CLK2_HUMAN;.	C	109;109;108;109	ENSP00000354856:R109C;ENSP00000357345:R109C;ENSP00000347759:R108C;ENSP00000441023:R109C	ENSP00000347759:R108C	R	-	1	0	CLK2	153505977	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	4.893000	0.63199	2.424000	0.82194	0.650000	0.86243	CGC		0.592	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		4	103	0	0	0	1	0	4	103					A	155239353	G	A	155239353	3	1	464	1	0	0	0	0	1	0	0	0	3537	1116	39	2	1215	2	CLK2	1	155239353	Missense_Mutation	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08	4770367	155239353	94011268	5	31429											
TPR	7175	broad.mit.edu	37	chr1	186326600	186326600	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaagggccactaagagacgTtgattttgttgttgaagctc	10	13	11	7	1	0	3	0	2	0	1	1	4	0	3	1	1	1	4	1	1	3	7			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:186326600T>C	ENST00000367478.4	-	14	1949	c.1653A>G	c.(1651-1653)caA>caG	p.Q551Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	551					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTAAGAGACGTTGATTTTGTT	0.388			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(1651-1653)caA>caG		translocated promoter region, nuclear basket protein							157	143	147					1																	186326600		1845	4088	5933	SO:0001819	synonymous_variant	7175				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	g.chr1:186326600T>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1653A>G	1.37:g.186326600T>C						TPR_ENST00000474852.1_5'UTR	p.Q551Q	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	14	1949	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	551					Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.1653A>G	CCDS41446.1																																																																																				0.388	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		11	46	0	0	0	1	0	11	46					C	186326600	T	C	186326600	2	2	464	1	0	0	0	0	0	0	0	1	16413	1722	60	4		4	TPR	1	186326600	Silent	SNP	T	TCGA-YL-A8SO-01B-31D-A377-08	31087247	186326600	62924021	6	31430											
SIPA1L2	57568	broad.mit.edu	37	chr1	232649718	232649718	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctgggcacttccaagacGgagacacctgcatttgtgca	9	10	10	12	1	1	2	0	0	1	2	3	3	2	2	2	2	2	3	2	2	1	2			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:232649718G>A	ENST00000366630.1	-	2	1726	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	SIPA1L2_ENST00000262861.4_Silent_p.S456S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	456					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.S456S(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTCCAAGACGGAGACACCTG	0.493																																						ENST00000366630.1																			1	Substitution - coding silent(1)	p.S456S(1)	lung(1)	NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1366-1368)tcC>tcT		signal-induced proliferation-associated 1 like 2							148	144	146					1																	232649718		1971	4164	6135	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649718G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1368C>T	1.37:g.232649718G>A						SIPA1L2_ENST00000262861.4_Silent_p.S456S	p.S456S			Q9P2F8	SI1L2_HUMAN			2	1726	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	456					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.1368C>T	CCDS41474.1																																																																																				0.493	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		4	137	0	0	0	1	0	4	137					A	232649718	G	A	232649718	2	1	464	1	0	0	0	0	0	0	0	1	14330	1103	39	2		2	SIPA1L2	1	232649718	Silent	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08	46323118	232649718	16600903	7	31431											
OTOF	9381	broad.mit.edu	37	chr2	26689990	26689990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagcgtcccacaatgcgctCctcctcggtggagccatcct	7	8	10	16	3	0	0	0	0	0	0	5	2	4	1	5	2	3	1	5	2	2	0	rs201493014		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:26689990C>T	ENST00000272371.2	-	35	4465	c.4339G>A	c.(4339-4341)Gag>Aag	p.E1447K	OTOF_ENST00000402415.3_Missense_Mutation_p.E757K|OTOF_ENST00000339598.3_Missense_Mutation_p.E680K|OTOF_ENST00000403946.3_Missense_Mutation_p.E1447K|OTOF_ENST00000338581.6_Missense_Mutation_p.E680K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1447					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			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)					ACAATGCGCTCCTCCTCGGTG	0.627													C|||	1	0.000199681	0	0.0014	5008	,	,		14388	0		0	False		,,,				2504	0				GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				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						c.(4339-4341)Gag>Aag		otoferlin							58	53	54					2																	26689990		2203	4300	6503	SO:0001583	missense	9381				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	g.chr2:26689990C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4339G>A	2.37:g.26689990C>T	ENSP00000272371:p.Glu1447Lys					OTOF_ENST00000402415.3_Missense_Mutation_p.E757K|OTOF_ENST00000339598.3_Missense_Mutation_p.E680K|OTOF_ENST00000338581.6_Missense_Mutation_p.E680K|OTOF_ENST00000403946.3_Missense_Mutation_p.E1447K	p.E1447K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			35	4465	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1447					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.4339G>A	CCDS1725.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.12	3.766700	0.69878	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.79940	-1.06;-1.06;-1.06;-1.32;-1.32	4.42	4.42	0.53409	.	0.047076	0.85682	D	0.000000	T	0.74168	0.3681	L	0.47716	1.5	0.58432	D	0.999998	B;B;B;B	0.19073	0.017;0.014;0.029;0.033	B;B;B;B	0.26614	0.012;0.02;0.027;0.071	T	0.68368	-0.5427	10	0.06757	T	0.87	-33.9162	16.9753	0.86311	0.0:1.0:0.0:0.0	.	1447;680;757;680	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	K	680;680;757;1447;1447	ENSP00000345137:E680K;ENSP00000344521:E680K;ENSP00000383906:E757K;ENSP00000272371:E1447K;ENSP00000385255:E1447K	ENSP00000272371:E1447K	E	-	1	0	OTOF	26543494	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.749000	0.85096	2.167000	0.68274	0.561000	0.74099	GAG		0.627	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			9	29	0	0	0	1	0	9	29					T	26689990	C	T	26689990	3	4	464	1	0	0	0	0	1	0	0	0	11303	864	30	3	1887	3	OTOF	2	26689990	Missense_Mutation	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08		26689990	216509383	8	31432											
LRP1B	53353	broad.mit.edu	37	chr2	141115581	141115581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcatctgaaccatctcCgcagtcatcaagtcgatcac	10	11	6	14	2	6	1	4	1	2	0	8	2	6	1	2	0	2	2	2	0	2	1	rs199649226		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:141115581C>T	ENST00000389484.3	-	74	12333	c.11362G>A	c.(11362-11364)Gga>Aga	p.G3788R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3788	LDL-receptor class A 32. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			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)		GAACCATCTCCGCAGTCATCA	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(11362-11364)Gga>Aga		low density lipoprotein receptor-related protein 1B							151	140	144					2																	141115581		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141115581C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11362G>A	2.37:g.141115581C>T	ENSP00000374135:p.Gly3788Arg	TSP Lung(27;0.18)					p.G3788R	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		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)	74	12333	-		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)	3788			LDL-receptor class A 32.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11362G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214571	0.95104	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95307	-3.67	5.82	5.82	0.92795	Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	L	0.53249	1.67	0.58432	D	0.999999	D	0.76494	0.999	D	0.68483	0.958	D	0.94488	0.7699	10	0.27785	T	0.31	.	20.0966	0.97849	0.0:1.0:0.0:0.0	.	3788	Q9NZR2	LRP1B_HUMAN	R	3788;3726	ENSP00000374135:G3788R	ENSP00000374135:G3788R	G	-	1	0	LRP1B	140832051	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.751000	0.94390	0.650000	0.86243	GGA		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		20	43	0	0	0	1	0	20	43					T	141115581	C	T	141115581	3	4	464	1	0	0	0	0	1	0	0	0	8955	661	23	2	2509	2	LRP1B	2	141115581	Missense_Mutation	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08	114425591	141115581	102083792	9	31433											
TLK1	9874	broad.mit.edu	37	chr2	171902685	171902685	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttaaatggaggcttacaGttgtggtaaatttggtctaa	12	16	10	3	0	1	0	0	0	1	0	1	1	1	1	0	4	1	3	0	4	6	7			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:171902685G>C	ENST00000431350.2	-	11	1572	c.1168C>G	c.(1168-1170)Ctg>Gtg	p.L390V	TLK1_ENST00000360843.3_Splice_Site_p.L411V|TLK1_ENST00000442919.2_Splice_Site_p.L342V|TLK1_ENST00000434911.2_Splice_Site_p.L294V|TLK1_ENST00000521943.1_Splice_Site_p.L342V			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	390					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GAGGCTTACAGTTGTGGTAAA	0.333																																						ENST00000442919.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.e11+1		tousled-like kinase 1							159	152	154					2																	171902685		2203	4300	6503	SO:0001630	splice_region_variant	9874				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	g.chr2:171902685G>C	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1169+1C>G	2.37:g.171902685G>C						TLK1_ENST00000521943.1_Splice_Site_p.L342_splice|TLK1_ENST00000431350.2_Splice_Site_p.L390_splice|TLK1_ENST00000360843.3_Splice_Site_p.L411_splice|TLK1_ENST00000434911.2_Splice_Site_p.L294_splice	p.L342_splice	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN			11	1639	-			390					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Splice_Site	SNP	ENST00000431350.2	37	c.1025_splice	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	G	8.327	0.825545	0.16749	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.62639	0.03;0.01;0.01;0.03;0.02	5.13	3.29	0.37713	.	0.000000	0.64402	D	0.000001	T	0.60907	0.2305	L	0.41236	1.265	0.50313	D	0.999861	B;D;B	0.62365	0.218;0.991;0.167	B;P;B	0.56751	0.05;0.805;0.024	T	0.55405	-0.8146	10	0.21014	T	0.42	-9.3847	8.9395	0.35720	0.2942:0.0:0.7058:0.0	.	294;411;390	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	V	342;390;411;342;294	ENSP00000402165:L342V;ENSP00000411099:L390V;ENSP00000354089:L411V;ENSP00000428113:L342V;ENSP00000409222:L294V	ENSP00000354089:L411V	L	-	1	2	TLK1	171610931	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.027000	0.41078	1.295000	0.44724	-0.229000	0.12294	CTG		0.333	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290	Missense_Mutation	4	78	0	0	0	1	0	4	78					C	171902685	G	C	171902685	5	2	464	1	0	0	0	0	0	0	1	0	15940	1043	36	5	1176	5	TLK1	2	171902685	Splice_Site	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08	30787104	171902685	71296688	10	31434											
COL4A4	1286	broad.mit.edu	37	chr2	227924243	227924243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccgggattcctttctgaCcattcactcctggtgagccg	5	12	9	15	2	2	2	1	2	1	0	5	3	5	3	5	2	1	0	5	2	0	3			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:227924243C>T	ENST00000396625.3	-	28	2468	c.2261G>A	c.(2260-2262)gGt>gAt	p.G754D	COL4A4_ENST00000329662.7_Missense_Mutation_p.G754D	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	754	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			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)		TCCTTTCTGACCATTCACTCC	0.587																																						ENST00000396625.3																			0				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						c.(2260-2262)gGt>gAt		collagen, type IV, alpha 4							73	78	77					2																	227924243		1829	4076	5905	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227924243C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2261G>A	2.37:g.227924243C>T	ENSP00000379866:p.Gly754Asp					COL4A4_ENST00000329662.7_Missense_Mutation_p.G754D	p.G754D	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	28	2468	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	754			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.2261G>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877527	0.91664	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99176	-5.52;-5.52	5.99	5.99	0.97316	.	.	.	.	.	D	0.99619	0.9861	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97845	1.0271	9	0.87932	D	0	.	18.2507	0.90002	0.0:1.0:0.0:0.0	.	754	P53420	CO4A4_HUMAN	D	754	ENSP00000379866:G754D;ENSP00000328553:G754D	ENSP00000328553:G754D	G	-	2	0	COL4A4	227632487	1.000000	0.71417	0.981000	0.43875	0.969000	0.65631	5.446000	0.66600	2.840000	0.97914	0.655000	0.94253	GGT		0.587	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		19	39	0	0	0	1	0	19	39					T	227924243	C	T	227924243	3	4	464	1	0	0	0	0	1	0	0	0	3693	507	18	3	2895	3	COL4A4	2	227924243	Missense_Mutation	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08	56021558	227924243	15275130	11	31435											
CYP8B1	1582	broad.mit.edu	37	chr3	42916185	42916185	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtctccatggcggaacAgatactcctgcccactggac	9	8	11	13	1	1	1	0	0	1	1	3	4	2	4	3	4	3	0	3	4	2	1			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr3:42916185A>T	ENST00000316161.4	-	1	1448	c.1124T>A	c.(1123-1125)cTg>cAg	p.L375Q	KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.L375Q	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	375					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			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)		ATGGCGGAACAGATACTCCTG	0.582																																						ENST00000316161.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(1123-1125)cTg>cAg		cytochrome P450, family 8, subfamily B, polypeptide 1							91	89	89					3																	42916185		2203	4300	6503	SO:0001583	missense	1582				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	g.chr3:42916185A>T	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"Cytochrome P450s"	2653	protein-coding gene	gene with protein product		602172	"cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.1124T>A	3.37:g.42916185A>T	ENSP00000318867:p.Leu375Gln					KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.L375Q|ACKR2_ENST00000471537.1_Intron	p.L375Q	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	1448	-			375					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.1124T>A	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.889784	0.00527	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.01347	4.99;4.99	4.5	-3.15	0.05233	.	0.868719	0.10039	N	0.723678	T	0.00784	0.0026	N	0.16708	0.43	0.09310	N	1	B;B	0.19583	0.037;0.011	B;B	0.22152	0.038;0.023	T	0.48614	-0.9020	10	0.11182	T	0.66	-3.4574	0.9942	0.01463	0.3681:0.2559:0.2391:0.1369	.	375;375	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	Q	375	ENSP00000404499:L375Q;ENSP00000318867:L375Q	ENSP00000318867:L375Q	L	-	2	0	CYP8B1	42891189	0.004000	0.15560	0.001000	0.08648	0.034000	0.12701	0.004000	0.13106	-0.406000	0.07588	0.459000	0.35465	CTG		0.582	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		17	45	0	0	0	1	0	17	45					T	42916185	A	T	42916185	3	4	464	1	0	0	0	0	1	0	0	0	4198	188	7	5	385	5	CYP8B1	3	42916185	Missense_Mutation	SNP	A	TCGA-YL-A8SO-01B-31D-A377-08		42916185	155106245	12	31436											
PLCH1	23007	broad.mit.edu	37	chr3	155205833	155205833	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacctttccatagatttcaTtgatggttatgtgtacaaat	11	17	6	7	0	2	2	2	1	0	1	3	2	3	2	2	1	1	2	2	1	4	6			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr3:155205833T>C	ENST00000340059.7	-	20	2566	c.2567A>G	c.(2566-2568)aAt>aGt	p.N856S	PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000460012.1_Missense_Mutation_p.N838S|PLCH1_ENST00000447496.2_Missense_Mutation_p.N856S|PLCH1_ENST00000334686.6_Missense_Mutation_p.N838S|PLCH1_ENST00000494598.1_Missense_Mutation_p.N856S|PLCH1_ENST00000414191.1_Missense_Mutation_p.N838S	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	856					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			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)			ATAGATTTCATTGATGGTTAT	0.338																																						ENST00000460012.1																			0				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						c.(2512-2514)aAt>aGt		phospholipase C, eta 1							129	129	129					3																	155205833		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155205833T>C	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2567A>G	3.37:g.155205833T>C	ENSP00000345988:p.Asn856Ser					PLCH1_ENST00000340059.7_Missense_Mutation_p.N856S|PLCH1_ENST00000414191.1_Missense_Mutation_p.N838S|PLCH1_ENST00000334686.6_Missense_Mutation_p.N838S|PLCH1_ENST00000494598.1_Missense_Mutation_p.N856S|PLCH1_ENST00000447496.2_Missense_Mutation_p.N856S	p.N838S			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		21	2870	-			856					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.2513A>G	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	19.69	3.873844	0.72180	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.29397	2.08;2.0;1.57;2.0;2.0;2.0	5.18	5.18	0.71444	C2 calcium/lipid-binding domain, CaLB (1);	0.642281	0.17446	N	0.173943	T	0.35770	0.0943	L	0.47190	1.495	0.54753	D	0.99998	P;B;B	0.40302	0.712;0.402;0.078	P;B;B	0.46718	0.525;0.171;0.053	T	0.03922	-1.0992	10	0.15499	T	0.54	.	15.0382	0.71767	0.0:0.0:0.0:1.0	.	838;856;856	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	S	856;838;856;856;838;838	ENSP00000419100:N856S;ENSP00000417502:N838S;ENSP00000402759:N856S;ENSP00000345988:N856S;ENSP00000335469:N838S;ENSP00000412977:N838S	ENSP00000335469:N838S	N	-	2	0	PLCH1	156688527	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.498000	0.81546	1.947000	0.56498	0.533000	0.62120	AAT		0.338	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		14	25	0	0	0	1	0	14	25					C	155205833	T	C	155205833	3	2	464	1	0	0	0	0	1	0	0	0	12037	1493	52	4	2545	4	PLCH1	3	155205833	Missense_Mutation	SNP	T	TCGA-YL-A8SO-01B-31D-A377-08	112289648	155205833	42816597	13	31437											
G3BP2	9908	broad.mit.edu	37	chr4	76579226	76579226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaagaaacagtaccactagGaggcaggtttttactggtca	13	9	12	7	0	1	1	1	0	0	1	1	3	1	3	1	5	3	3	1	5	5	5			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr4:76579226G>A	ENST00000359707.4	-	8	1551	c.766C>T	c.(766-768)Cct>Tct	p.P256S	G3BP2_ENST00000502654.1_5'Flank|G3BP2_ENST00000395719.3_Missense_Mutation_p.P256S|G3BP2_ENST00000357854.3_Intron	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	256					cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GTACCACTAGGAGGCAGGTTT	0.443																																						ENST00000359707.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(766-768)Cct>Tct		GTPase activating protein (SH3 domain) binding protein 2							86	84	85					4																	76579226		2203	4300	6503	SO:0001583	missense	9908				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	g.chr4:76579226G>A	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"RNA binding motif (RRM) containing"	30291	protein-coding gene	gene with protein product	"Ras-GTPase activating protein SH3 domain-binding protein 2"					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.766C>T	4.37:g.76579226G>A	ENSP00000352738:p.Pro256Ser					G3BP2_ENST00000357854.3_Intron|G3BP2_ENST00000395719.3_Missense_Mutation_p.P256S	p.P256S	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		8	1551	-			256					A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.766C>T	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113928	0.77210	.	.	ENSG00000138757	ENST00000395719;ENST00000359707	T;T	0.78816	-1.21;-1.21	5.95	5.95	0.96441	.	0.047834	0.85682	D	0.000000	D	0.82600	0.5072	L	0.60455	1.87	0.80722	D	1	P	0.47910	0.902	P	0.53185	0.72	T	0.76572	-0.2910	10	0.17369	T	0.5	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	256	Q9UN86	G3BP2_HUMAN	S	256	ENSP00000379069:P256S;ENSP00000352738:P256S	ENSP00000352738:P256S	P	-	1	0	G3BP2	76798250	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.827000	0.97445	0.650000	0.86243	CCT		0.443	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		3	12	0	0	0	1	0	3	12					A	76579226	G	A	76579226	3	1	464	1	0	0	0	0	1	0	0	0	6142	1174	41	3	702	3	G3BP2	4	76579226	Missense_Mutation	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08		76579226	114575050	14	31438											
SPARCL1	8404	broad.mit.edu	37	chr4	88401672	88401672	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atccaggtaaattttcttgaCctgggattaggaaggcagaa	13	11	11	6	0	1	2	0	1	1	1	2	4	2	4	2	4	0	2	2	4	5	5			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr4:88401672C>T	ENST00000282470.6	-	9	2139	c.1669G>A	c.(1669-1671)Gtc>Atc	p.V557I	SPARCL1_ENST00000503414.1_Splice_Site_p.V432I|SPARCL1_ENST00000418378.1_Splice_Site_p.V557I	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	557					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			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)		ATTTTCTTGACCTGGGATTAG	0.398																																						ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.e10-1		SPARC-like 1 (hevin)							84	85	85					4																	88401672		2203	4300	6503	SO:0001630	splice_region_variant	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88401672C>T	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1669-1G>A	4.37:g.88401672C>T						SPARCL1_ENST00000282470.6_Splice_Site_p.V557_splice|SPARCL1_ENST00000503414.1_Splice_Site_p.V432_splice	p.V557_splice	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	10	2240	-			557					B4E2Z0|E7ESU2|Q14800	Splice_Site	SNP	ENST00000282470.6	37	c.1668_splice	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789058	0.90367	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.31769	2.04;2.04;1.48	4.92	4.92	0.64577	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	M	0.87038	2.855	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.69669	-0.5083	10	0.87932	D	0	-12.3112	17.9858	0.89155	0.0:1.0:0.0:0.0	.	557	Q14515	SPRL1_HUMAN	I	557;557;432;432	ENSP00000282470:V557I;ENSP00000414856:V557I;ENSP00000422903:V432I	ENSP00000282470:V557I	V	-	1	0	SPARCL1	88620696	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.248000	0.78268	2.663000	0.90544	0.585000	0.79938	GTC		0.398	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2		Missense_Mutation	20	49	0	0	0	1	0	20	49					T	88401672	C	T	88401672	5	4	464	1	0	0	0	0	0	0	1	0	14995	521	18	3	337	3	SPARCL1	4	88401672	Splice_Site	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08	11822446	88401672	102752604	15	31439											
TRIO	7204	broad.mit.edu	37	chr5	14488270	14488270	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacagcgactccctccagcgGcagacaccccgccacgcggc	8	2	11	20	5	0	1	0	0	0	1	2	3	2	1	5	2	2	1	5	2	0	0	rs371334482		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr5:14488270G>T	ENST00000344204.4	+	48	7557	c.7533G>T	c.(7531-7533)cgG>cgT	p.R2511R	TRIO_ENST00000537187.1_Intron|TRIO_ENST00000344135.5_5'Flank	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2511					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)					CCCTCCAGCGGCAGACACCCC	0.711																																						ENST00000344204.4																			0				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						c.(7531-7533)cgG>cgT		trio Rho guanine nucleotide exchange factor							8	10	9					5																	14488270		1896	3804	5700	SO:0001819	synonymous_variant	7204				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	g.chr5:14488270G>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.7533G>T	5.37:g.14488270G>T						TRIO_ENST00000537187.1_Intron	p.R2511R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			48	7557	+	Lung NSC(4;0.000742)		2511					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.7533G>T	CCDS3883.1																																																																																				0.711	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		3	5	1	0	0.115264	1	0.115264	3	5					T	14488270	G	T	14488270	2	4	464	1	0	0	0	0	0	0	0	1	16549	1190	42	5		5	TRIO	5	14488270	Silent	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08		14488270	166426990	16	31440											
MSH3	4437	broad.mit.edu	37	chr5	79968166	79968166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtacgccgcctggtggCaaaaggatataaggtcagct	11	9	12	9	2	2	0	2	0	0	0	2	1	2	1	2	4	2	3	2	4	5	3			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr5:79968166C>T	ENST00000265081.6	+	5	976	c.896C>T	c.(895-897)gCa>gTa	p.A299V		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	299					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CGCCTGGTGGCAAAAGGATAT	0.448								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(895-897)gCa>gTa	Mismatch excision repair (MMR)	mutS homolog 3							96	92	93					5																	79968166		2203	4300	6503	SO:0001583	missense	4437				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	g.chr5:79968166C>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.896C>T	5.37:g.79968166C>T	ENSP00000265081:p.Ala299Val						p.A299V	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	5	976	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	299					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.896C>T	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223189	0.95139	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.86366	-2.11	5.69	5.69	0.88448	DNA mismatch repair protein MutS, N-terminal (2);DNA mismatch repair protein MutS-like, N-terminal (1);	0.058541	0.64402	D	0.000002	D	0.94225	0.8146	M	0.84511	2.7	0.54753	D	0.999983	D	0.71674	0.998	D	0.72338	0.977	D	0.93953	0.7233	9	.	.	.	-16.607	19.4293	0.94758	0.0:1.0:0.0:0.0	.	299	P20585	MSH3_HUMAN	V	299;290	ENSP00000265081:A299V	.	A	+	2	0	MSH3	80003922	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.384000	0.79751	2.697000	0.92050	0.650000	0.86243	GCA		0.448	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		13	41	0	0	0	1	0	13	41					T	79968166	C	T	79968166	3	4	464	1	0	0	0	0	1	0	0	0	9871	710	25	3	914	3	MSH3	5	79968166	Missense_Mutation	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08	65479896	79968166	100947094	17	31441											
APC	324	broad.mit.edu	37	chr5	112174631	112174631	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaatggttcagaaacaaatCgagtgggttctaatcatgga	14	10	10	7	1	3	1	2	0	1	1	4	3	3	2	1	3	1	2	1	3	4	3	rs121913331		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr5:112174631C>T	ENST00000457016.1	+	16	3720	c.3340C>T	c.(3340-3342)Cga>Tga	p.R1114*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.R1114*|APC_ENST00000508376.2_Nonsense_Mutation_p.R1114*			P25054	APC_HUMAN	adenomatous polyposis coli	1114	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R1114*(30)|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)		AGAAACAAATCGAGTGGGTTC	0.403	R1114*(LOVO_LARGE_INTESTINE)|R1114*(SW948_LARGE_INTESTINE)	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)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1	R1114*(LOVO_LARGE_INTESTINE)|R1114*(SW948_LARGE_INTESTINE)	12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		31	Substitution - Nonsense(30)|Unknown(1)	p.R1114*(30)|p.?(1)	large_intestine(29)|ovary(1)|skin(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	GRCh37	CM920048	APC	M	rs121913331	c.(3340-3342)Cga>Tga		adenomatous polyposis coli							90	82	85					5																	112174631		2202	4300	6502	SO:0001587	stop_gained	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	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	g.chr5:112174631C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3340C>T	5.37:g.112174631C>T	ENSP00000413133:p.Arg1114*	TSP Lung(16;0.13)				APC_ENST00000257430.4_Nonsense_Mutation_p.R1114*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.R1114*	p.R1114*			P25054	APC_HUMAN		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)	16	3720	+		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)	1114			Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.3340C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	38	6.950292	0.97956	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.76	4.88	0.63580	.	0.190581	0.42172	D	0.000759	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7869	14.0911	0.64990	0.3279:0.6721:0.0:0.0	.	.	.	.	X	1114;1096;1114;1114;1114	.	ENSP00000257430:R1114X	R	+	1	2	APC	112202530	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.208000	0.42797	1.423000	0.47198	0.655000	0.94253	CGA		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		17	30	0	0	0	1	0	17	30					T	112174631	C	T	112174631	4	4	464	1	0	0	0	0	0	1	0	0	763	876	31	2	3398	2	APC	5	112174631	Nonsense_Mutation	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08	32206465	112174631	68740629	18	31442											
HIVEP1	3096	broad.mit.edu	37	chr6	12162077	12162077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagacacttccaggtcccCgtgtcatcagatgtctgtgg	7	12	11	11	1	3	2	2	0	1	2	5	2	5	2	3	2	0	1	3	2	1	2	rs267600787		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:12162077C>T	ENST00000379388.2	+	8	7225	c.6893C>T	c.(6892-6894)cCg>cTg	p.P2298L	HIVEP1_ENST00000541134.1_Missense_Mutation_p.P163L	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2298					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)				TCCAGGTCCCCGTGTCATCAG	0.488																																						ENST00000379388.2																			0				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						c.(6892-6894)cCg>cTg		human immunodeficiency virus type I enhancer binding protein 1							93	93	93					6																	12162077		2016	4189	6205	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12162077C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6893C>T	6.37:g.12162077C>T	ENSP00000368698:p.Pro2298Leu					HIVEP1_ENST00000541134.1_Missense_Mutation_p.P163L	p.P2298L	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			8	7225	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2298					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.6893C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212070	0.79240	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	T;T	0.51817	2.65;0.69	5.96	5.09	0.68999	.	0.000000	0.35936	N	0.002892	T	0.43500	0.1250	M	0.79805	2.47	0.80722	D	1	D	0.69078	0.997	P	0.48571	0.582	T	0.48703	-0.9012	10	0.35671	T	0.21	-15.8137	11.0902	0.48110	0.0:0.8597:0.0:0.1403	.	2298	P15822	ZEP1_HUMAN	L	2298;225;163;280	ENSP00000368698:P2298L;ENSP00000445617:P163L	ENSP00000368698:P2298L	P	+	2	0	HIVEP1	12270063	0.989000	0.36119	0.650000	0.29550	0.857000	0.48899	3.609000	0.54117	1.538000	0.49270	0.655000	0.94253	CCG		0.488	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		3	78	0	0	0	1	0	3	78					T	12162077	C	T	12162077	3	4	464	1	0	0	0	0	1	0	0	0	7186	652	23	2	6919	2	HIVEP1	6	12162077	Missense_Mutation	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08		12162077	158952990	19	31443											
BYSL	705	broad.mit.edu	37	chr6	41900430	41900430	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatgtggaagatgttcccAtcaccgtggagtgaggaaaa	12	8	14	7	2	1	2	1	1	0	1	2	6	2	5	2	3	0	1	2	3	3	1	rs144306191		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:41900430A>T	ENST00000230340.4	+	7	1675	c.1300A>T	c.(1300-1302)Atc>Ttc	p.I434F		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	434					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			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)			AGATGTTCCCATCACCGTGGA	0.557																																						ENST00000230340.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8						c.(1300-1302)Atc>Ttc		bystin-like							51	50	50					6																	41900430		2203	4300	6503	SO:0001583	missense	705				cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		g.chr6:41900430A>T	L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.1300A>T	6.37:g.41900430A>T	ENSP00000230340:p.Ile434Phe						p.I434F	NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1675	+	Colorectal(47;0.121)		434					Q6P5W4|Q86W44|Q96IP8	Missense_Mutation	SNP	ENST00000230340.4	37	c.1300A>T	CCDS34450.1	.	.	.	.	.	.	.	.	.	.	a	14.43	2.533796	0.45073	.	.	ENSG00000112578	ENST00000230340	T	0.32515	1.45	5.13	-4.96	0.03038	.	1.271460	0.05227	N	0.509666	T	0.05868	0.0153	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.19148	0.024	T	0.28744	-1.0034	10	0.20519	T	0.43	-21.4271	8.82	0.35020	0.5654:0.1014:0.3333:0.0	.	434	Q13895	BYST_HUMAN	F	434	ENSP00000230340:I434F	ENSP00000230340:I434F	I	+	1	0	BYSL	42008408	0.000000	0.05858	0.000000	0.03702	0.095000	0.18619	0.101000	0.15251	-1.377000	0.02123	0.449000	0.29647	ATC		0.557	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2			8	15	0	0	0	1	0	8	15					T	41900430	A	T	41900430	3	4	464	1	0	0	0	0	1	0	0	0	1576	217	8	5	1326	5	BYSL	6	41900430	Missense_Mutation	SNP	A	TCGA-YL-A8SO-01B-31D-A377-08	29738353	41900430	129214637	20	31444											
TRERF1	55809	broad.mit.edu	37	chr6	42227383	42227383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaggttccggccggtgccGgaactttttcttctcctgca	5	12	12	12	3	2	1	0	0	2	1	4	3	3	2	4	4	3	2	4	4	1	4	rs142184147		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:42227383G>A	ENST00000372922.4	-	9	2525	c.1963C>T	c.(1963-1965)Cgg>Tgg	p.R655W	TRERF1_ENST00000541110.1_Missense_Mutation_p.R675W|TRERF1_ENST00000354325.2_Missense_Mutation_p.R572W|TRERF1_ENST00000340840.2_Missense_Mutation_p.R572W|TRERF1_ENST00000372917.4_Missense_Mutation_p.R572W	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	655	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			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)			GGCCGGTGCCGGAACTTTTTC	0.627																																						ENST00000541110.1																			0				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						c.(2023-2025)Cgg>Tgg		transcriptional regulating factor 1		G	TRP/ARG	1,4405		0,1,2202	45	56	52		1963	4.4	1	6	dbSNP_134	52	0,8600		0,0,4300	no	missense	TRERF1	NM_033502.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	655/1201	42227383	1,13005	2203	4300	6503	SO:0001583	missense	55809				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	g.chr6:42227383G>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1963C>T	6.37:g.42227383G>A	ENSP00000362013:p.Arg655Trp					TRERF1_ENST00000372917.4_Missense_Mutation_p.R572W|TRERF1_ENST00000340840.2_Missense_Mutation_p.R572W|TRERF1_ENST00000372922.4_Missense_Mutation_p.R655W|TRERF1_ENST00000354325.2_Missense_Mutation_p.R572W	p.R675W			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		9	2591	-	Colorectal(47;0.196)		655			Interacts with CREBBP.|Pro-rich.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.2023C>T	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858002	0.91433	2.27E-4	0.0	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.20881	2.08;2.34;2.04;2.34;2.34	5.32	4.45	0.53987	.	0.000000	0.53938	D	0.000049	T	0.36552	0.0971	M	0.75615	2.305	0.44562	D	0.997528	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.997	T	0.37888	-0.9686	10	0.87932	D	0	-16.6019	14.2029	0.65716	0.0722:0.0:0.9278:0.0	.	572;675;655;411;411	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	W	675;572;655;572;572	ENSP00000439689:R675W;ENSP00000362008:R572W;ENSP00000362013:R655W;ENSP00000339438:R572W;ENSP00000346285:R572W	ENSP00000339438:R572W	R	-	1	2	TRERF1	42335361	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.461000	0.97646	1.245000	0.43885	-0.119000	0.15052	CGG		0.627	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		9	96	0	0	0	1	0	9	96					A	42227383	G	A	42227383	3	1	464	1	0	0	0	0	1	0	0	0	16472	1115	39	2	1679	2	TRERF1	6	42227383	Missense_Mutation	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08	326953	42227383	128887684	21	31445											
VGLL2	245806	broad.mit.edu	37	chr6	117589488	117589488	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccagagaaagagcgcccAccagaggcagagtacatcaa	16	2	11	12	1	1	4	1	0	0	4	1	5	1	4	3	1	3	2	3	1	3	1			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:117589488A>C	ENST00000326274.5	+	2	415	c.225A>C	c.(223-225)ccA>ccC	p.P75P	VGLL2_ENST00000352536.3_Silent_p.P75P	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	75					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		AAGAGCGCCCACCAGAGGCAG	0.577																																						ENST00000326274.5																			0				central_nervous_system(1)|kidney(1)|lung(3)	5						c.(223-225)ccA>ccC		vestigial like 2 (Drosophila)							103	118	113					6																	117589488		2203	4300	6503	SO:0001819	synonymous_variant	245806				transcription, DNA-dependent	nucleus		g.chr6:117589488A>C	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"vestigial like 2 (Drosophila)"			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.225A>C	6.37:g.117589488A>C						VGLL2_ENST00000352536.3_Silent_p.P75P	p.P75P	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	2	415	+			75					Q8WWX1	Silent	SNP	ENST00000326274.5	37	c.225A>C	CCDS5115.1																																																																																				0.577	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		13	102	0	0	0	1	0	13	102					C	117589488	A	C	117589488	2	2	464	1	0	0	0	0	0	0	0	1	17156	146	6	5		5	VGLL2	6	117589488	Silent	SNP	A	TCGA-YL-A8SO-01B-31D-A377-08	75362105	117589488	53525579	22	31446											
TAAR2	9287	broad.mit.edu	37	chr6	132939259	132939259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttctgggcaagatctatttCcatattcagagcaattgaat	12	15	7	7	0	3	3	1	1	2	2	4	3	4	3	1	1	1	2	1	1	5	6			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:132939259C>T	ENST00000367931.1	-	2	85	c.86G>A	c.(85-87)gGa>gAa	p.G29E	TAAR2_ENST00000275191.2_5'UTR|TAAR2_ENST00000537809.1_5'UTR			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	29					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AGATCTATTTCCATATTCAGA	0.308																																						ENST00000367931.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23						c.(85-87)gGa>gAa		trace amine associated receptor 2							57	60	59					6																	132939259		2201	4297	6498	SO:0001583	missense	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132939259C>T	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"GPCR / Class A : Trace amine associated receptors"	4514	protein-coding gene	gene with protein product		604849	"G protein-coupled receptor 58"	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.86G>A	6.37:g.132939259C>T	ENSP00000356908:p.Gly29Glu					TAAR2_ENST00000275191.2_5'UTR|TAAR2_ENST00000537809.1_5'UTR	p.G29E			Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	2	85	-	Breast(56;0.135)		29					Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	c.86G>A	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784306	0.49997	.	.	ENSG00000146378	ENST00000367931	T	0.36520	1.25	5.5	5.5	0.81552	.	0.080740	0.49305	D	0.000141	T	0.35941	0.0949	N	0.20986	0.625	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.17167	-1.0378	10	0.51188	T	0.08	-14.2529	14.5843	0.68312	0.1461:0.8539:0.0:0.0	.	29	Q9P1P5	TAAR2_HUMAN	E	29	ENSP00000356908:G29E	ENSP00000356908:G29E	G	-	2	0	TAAR2	132980952	0.033000	0.19621	1.000000	0.80357	0.992000	0.81027	0.182000	0.16900	2.740000	0.93945	0.650000	0.86243	GGA		0.308	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		4	70	0	0	0	1	0	4	70					T	132939259	C	T	132939259	3	4	464	1	0	0	0	0	1	0	0	0	15487	855	30	3	973	3	TAAR2	6	132939259	Missense_Mutation	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08	15349771	132939259	38175808	23	31447											
EPM2A	7957	broad.mit.edu	37	chr6	145956563	145956563	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccccaattcatgcttcagtTtgatggttacatgttccacc	8	15	6	12	0	2	1	2	1	0	0	4	1	4	1	4	1	2	4	4	1	2	5			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:145956563T>A	ENST00000367519.3	-	3	1061	c.536A>T	c.(535-537)aAa>aTa	p.K179I	EPM2A_ENST00000496228.1_5'UTR	NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	179					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|habituation (GO:0046959)|inositol phosphate dephosphorylation (GO:0046855)|nervous system development (GO:0007399)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polysome (GO:0005844)	carbohydrate phosphatase activity (GO:0019203)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|starch binding (GO:2001070)			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		ATGCTTCAGTTTGATGGTTAC	0.438																																						ENST00000367519.3																			0				kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7						c.(535-537)aAa>aTa		epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)							127	112	117					6																	145956563		2203	4300	6503	SO:0001583	missense	7957				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	g.chr6:145956563T>A	AF284580	CCDS5206.1	6q24	2011-06-09			ENSG00000112425	ENSG00000112425		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3413	protein-coding gene	gene with protein product		607566	"epilepsy, progressive myoclonus type 2, Lafora disease (laforin)"			9222970, 7485240	Standard	XM_006715564		Approved	LDE, LD	uc003qkw.3	B3EWF7	OTTHUMG00000015747	ENST00000367519.3:c.536A>T	6.37:g.145956563T>A	ENSP00000356489:p.Lys179Ile					EPM2A_ENST00000496228.1_5'UTR	p.K179I	NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)	3	1061	-		Ovarian(120;0.162)	179					B3KMU5|B4DRZ2|O95483|Q5T3F5|Q6IS15|Q8IU96|Q8IX24|Q8IX25|Q9BS66|Q9UEN2	Missense_Mutation	SNP	ENST00000367519.3	37	c.536A>T	CCDS5206.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.680428|4.680428	0.88542|0.88542	.|.	.|.	ENSG00000112425|ENSG00000112425	ENST00000535403;ENST00000367519;ENST00000392304;ENST00000324857|ENST00000450221;ENST00000435470	T|.	0.61274|.	0.12|.	5.91|5.91	4.76|4.76	0.60689|0.60689	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (1);|.	0.043038|.	0.85682|.	D|.	0.000000|.	T|T	0.47040|0.47040	0.1424|0.1424	L|L	0.49350|0.49350	1.555|1.555	0.58432|0.58432	D|D	0.999992|0.999992	D;D;D|.	0.71674|.	0.998;0.998;0.998|.	D;D;D|.	0.68943|.	0.961;0.929;0.942|.	T|T	0.45556|0.45556	-0.9253|-0.9253	10|5	0.59425|.	D|.	0.04|.	-20.7379|-20.7379	11.6928|11.6928	0.51525|0.51525	0.0:0.0687:0.0:0.9313|0.0:0.0687:0.0:0.9313	.|.	179;179;41|.	O95278;O95278-2;E1P599|.	EPM2A_HUMAN;.;.|.	I|Y	179|79;99	ENSP00000356489:K179I|.	ENSP00000320279:K179I|.	K|N	-|-	2|1	0|0	EPM2A|EPM2A	145998256|145998256	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.975000|5.975000	0.70475|0.70475	1.073000|1.073000	0.40885|0.40885	0.533000|0.533000	0.62120|0.62120	AAA|AAC		0.438	EPM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042564.1			33	71	0	0	0	1	0	33	71					A	145956563	T	A	145956563	3	1	464	1	0	0	0	0	1	0	0	0	5183	1841	64	5	501	5	EPM2A	6	145956563	Missense_Mutation	SNP	T	TCGA-YL-A8SO-01B-31D-A377-08	13017304	145956563	25158504	24	31448											
AEBP1	165	broad.mit.edu	37	chr7	44152662	44152662	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggctgtgacaagttccCtcatgagagtgagctgcccc	7	9	12	13	0	1	3	1	3	0	1	2	4	2	3	4	1	2	3	4	1	1	1			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr7:44152662C>A	ENST00000223357.3	+	19	2947	c.2642C>A	c.(2641-2643)cCt>cAt	p.P881H	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.P456H	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	881	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GACAAGTTCCCTCATGAGAGT	0.577																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(2641-2643)cCt>cAt		AE binding protein 1							139	150	147					7																	44152662		2203	4300	6503	SO:0001583	missense	165				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	g.chr7:44152662C>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2642C>A	7.37:g.44152662C>A	ENSP00000223357:p.Pro881His					AEBP1_ENST00000450684.2_Missense_Mutation_p.P456H	p.P881H	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			19	2947	+			881			Interaction with PTEN (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.2642C>A	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897975	0.91962	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.14516	2.5;2.5	5.27	5.27	0.74061	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.64153	-0.6474	10	0.87932	D	0	-17.9528	18.8544	0.92246	0.0:1.0:0.0:0.0	.	456;881	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	H	881;456	ENSP00000223357:P881H;ENSP00000398878:P456H	ENSP00000223357:P881H	P	+	2	0	AEBP1	44119187	1.000000	0.71417	0.969000	0.41365	0.997000	0.91878	7.725000	0.84808	2.621000	0.88768	0.591000	0.81541	CCT		0.577	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		6	238	1	0	0.0293803	1	0.0298783	6	238					A	44152662	C	A	44152662	3	1	464	1	0	0	0	0	1	0	0	0	349	681	24	5	2716	5	AEBP1	7	44152662	Missense_Mutation	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08		44152662	114986001	25	31449											
ZNF679	168417	broad.mit.edu	37	chr7	63709526	63709526	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgggatcccctggaagcCgagaaatggtgagtgctggg	9	6	17	9	2	0	2	0	1	0	1	1	6	1	4	4	4	2	1	4	4	2	0	rs191648017	byFrequency	TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr7:63709526C>T	ENST00000421025.1	+	2	300	c.31C>T	c.(31-33)Cga>Tga	p.R11*	ZNF679_ENST00000255746.4_Nonsense_Mutation_p.R11*	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCCTGGAAGCCGAGAAATGGT	0.572																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(31-33)Cga>Tga		zinc finger protein 679							47	39	42					7																	63709526		692	1591	2283	SO:0001587	stop_gained	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63709526C>T	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.31C>T	7.37:g.63709526C>T	ENSP00000416809:p.Arg11*					ZNF679_ENST00000255746.4_Nonsense_Mutation_p.R11*	p.R11*	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			2	300	+			11						Nonsense_Mutation	SNP	ENST00000421025.1	37	c.31C>T	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	c	14.87	2.665496	0.47677	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	.	.	.	0.421	0.421	0.16451	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	.	.	.	.	.	.	.	X	11	.	ENSP00000255746:R11X	R	+	1	2	ZNF679	63346961	0.009000	0.17119	0.004000	0.12327	0.004000	0.04260	0.420000	0.21263	0.452000	0.26830	0.455000	0.32223	CGA		0.572	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		7	34	0	0	0	1	0	7	34					T	63709526	C	T	63709526	4	4	464	1	0	0	0	0	0	1	0	0	18083	644	23	2	33	2	ZNF679	7	63709526	Nonsense_Mutation	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08	19556864	63709526	95429137	26	31450											
BHLHE22	27319	broad.mit.edu	37	chr8	65494021	65494023	+	In_Frame_Del	DEL	GCA	GCA	-																															tagcggtagcggcagcggcgGcagcagcagcagcagcagca																								rs62519837		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr8:65494021_65494023delGCA	ENST00000321870.1	+	1	1208_1210	c.674_676delGCA	c.(673-678)ggcagc>ggc	p.S234del	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	234	Ser-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S234delS(1)|p.S226G(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						ggcagcggcggcagcagcagcag	0.709																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			2	Substitution - Missense(1)|Deletion - In frame(1)	p.S234delS(1)|p.S226G(1)	central_nervous_system(1)|skin(1)	NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(673-678)ggc>g		basic helix-loop-helix family, member e22																																				SO:0001651	inframe_deletion	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65494021_65494023delGCA	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"Basic helix-loop-helix proteins"	11963	protein-coding gene	gene with protein product		613483	"trinucleotide repeat containing 20", "basic helix-loop-helix domain containing, class B, 5"	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.674_676delGCA	8.37:g.65494030_65494032delGCA	ENSP00000318799:p.Ser234del					RP11-21C4.1_ENST00000517909.1_RNA	p.GS225del	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	1208_1210	+			225			Gly-rich.|Ser-rich.			In_Frame_Del	DEL	ENST00000321870.1	37	c.674_676delGCA	CCDS6179.1																																																																																				0.709	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		2	4						2	4	---	---	---	---	-	65494023	GCA	-	65494021	7	5	464	1	0	1	0	1	0	0	0	0	1421	1203	42	0	676	0	BHLHE22	8	65494021	In_Frame_Del	DEL	GCA	TCGA-YL-A8SO-01B-31D-A377-08		65494021	80870001	27	31451											
RAD21	5885	broad.mit.edu	37	chr8	117859877	117859877	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgttttctgttcgtattTcgacataactcaagcaaact	10	16	6	9	2	2	0	1	0	1	0	4	1	2	0	0	0	3	5	0	0	4	7			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr8:117859877T>G	ENST00000297338.2	-	14	2045	c.1758A>C	c.(1756-1758)cgA>cgC	p.R586R	RAD21_ENST00000517749.1_Silent_p.R24R|UTP23_ENST00000520733.1_Intron|UTP23_ENST00000517820.1_Intron|RAD21_ENST00000523986.1_Silent_p.R90R|RAD21_ENST00000518055.1_Silent_p.R131R	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	586					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TGTTCGTATTTCGACATAACT	0.388																																						ENST00000297338.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(1756-1758)cgA>cgC		RAD21 homolog (S. pombe)							88	81	83					8																	117859877		2203	4300	6503	SO:0001819	synonymous_variant	5885				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	g.chr8:117859877T>G	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1758A>C	8.37:g.117859877T>G						RAD21_ENST00000518055.1_Silent_p.R131R|UTP23_ENST00000520733.1_Intron|RAD21_ENST00000517749.1_Silent_p.R24R|UTP23_ENST00000517820.1_Intron|RAD21_ENST00000523986.1_Silent_p.R90R	p.R586R	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			14	2045	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		586					A8K0E0|Q15001|Q99568	Silent	SNP	ENST00000297338.2	37	c.1758A>C	CCDS6321.1																																																																																				0.388	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		9	62	0	0	0	1	0	9	62					G	117859877	T	G	117859877	2	3	464	1	0	0	0	0	0	0	0	1	12981	1770	62	5		5	RAD21	8	117859877	Silent	SNP	T	TCGA-YL-A8SO-01B-31D-A377-08	52365856	117859877	28504145	28	31452											
NOL6	65083	broad.mit.edu	37	chr9	33468419	33468419	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaagtcagccagggccGgcttggggggtgtagagaga	8	6	21	6	1	1	2	1	0	0	2	1	4	1	3	2	7	1	2	2	7	2	2	rs201544071	byFrequency	TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr9:33468419G>A	ENST00000379471.2	-	10	1295	c.1208C>T	c.(1207-1209)cCg>cTg	p.P403L	NOL6_ENST00000455041.2_Splice_Site_p.P343L|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	403					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			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)		AGCCAGGGCCGGCTTGGGGGG	0.577													G|||	3	0.000599042	0	0	5008	,	,		19071	0.003		0	False		,,,				2504	0					ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.e10-1		nucleolar protein 6 (RNA-associated)		G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	60	62	61		1208,1208	5.3	1	9		61	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice,missense-near-splice	NOL6	NM_022917.4,NM_139235.3	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	403/1147,403/700	33468419	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33468419G>A	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1207-1C>T	9.37:g.33468419G>A						NOL6_ENST00000455041.2_Splice_Site_p.P343_splice|NOL6_ENST00000464829.1_Intron	p.P403_splice			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	10	1295	-			403					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Splice_Site	SNP	ENST00000379471.2	37	c.1206_splice		.	.	.	.	.	.	.	.	.	.	G	23.1	4.374148	0.82573	0.0	1.16E-4	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000325914;ENST00000455041	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	M	0.71206	2.165	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;1.0	D;D;D;P;D	0.97110	0.999;0.999;0.997;0.781;1.0	T	0.63950	-0.6521	10	0.41790	T	0.15	.	18.6286	0.91350	0.0:0.0:1.0:0.0	.	343;400;403;403;403	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	L	403;403;403;403;343	ENSP00000313978:P403L;ENSP00000297990:P403L;ENSP00000368784:P403L;ENSP00000395915:P343L	ENSP00000297990:P403L	P	-	2	0	NOL6	33458419	1.000000	0.71417	0.999000	0.59377	0.852000	0.48524	9.059000	0.93902	2.506000	0.84524	0.462000	0.41574	CCG		0.577	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917	Missense_Mutation	6	17	0	0	0	1	0	6	17					A	33468419	G	A	33468419	5	1	464	1	0	0	0	0	0	0	1	0	10525	1130	39	2	2300	2	NOL6	9	33468419	Splice_Site	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08		33468419	107745012	29	31453											
RUSC2	9853	broad.mit.edu	37	chr9	35548057	35548057	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgtccgcctgggctcGctggaacgtatgttgagttg	4	12	13	12	3	0	1	0	1	0	0	3	2	2	2	4	2	1	5	4	2	2	3			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr9:35548057G>A	ENST00000455600.1	+	2	2108	c.1539G>A	c.(1537-1539)tcG>tcA	p.S513S		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	513						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			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)			GCCTGGGCTCGCTGGAACGTA	0.647																																						ENST00000455600.1																			0				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						c.(1537-1539)tcG>tcA		RUN and SH3 domain containing 2							33	35	34					9																	35548057		2203	4300	6503	SO:0001819	synonymous_variant	9853					cytosol		g.chr9:35548057G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1539G>A	9.37:g.35548057G>A							p.S513S	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	2108	+			513					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Silent	SNP	ENST00000455600.1	37	c.1539G>A	CCDS35008.1																																																																																				0.647	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		10	37	0	0	0	1	0	10	37					A	35548057	G	A	35548057	2	1	464	1	0	0	0	0	0	0	0	1	13751	1074	38	1		1	RUSC2	9	35548057	Silent	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08	2079638	35548057	105665374	30	31454											
ABCA1	19	broad.mit.edu	37	chr9	107556793	107556794	+	Splice_Site	INS	-	-	AA																															attgatattattcagcttctINSaaaaaaaaaaaaaaaaaatg																								rs397938228|rs77663187|rs377469216		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr9:107556793_107556794insAA	ENST00000374736.3	-	40	5777		c.e40-2			NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1						apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.?(2)		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)|Glyburide(DB01016)|Probucol(DB01599)	ATTCAGCTTCTAAAAAAAAAAA	0.406																																						ENST00000374736.3																			2	Unknown(2)	p.?(2)	lung(1)|kidney(1)	NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.e40-2		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001630	splice_region_variant	19				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	g.chr9:107556793_107556794insAA	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5383-2->TT	9.37:g.107556802_107556803dupAA								NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	40	5777	-								Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Splice_Site	INS	ENST00000374736.3	37		CCDS6762.1																																																																																				0.406	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	Intron	11	25						11	25	---	---	---	---	AA	107556794	-	AA	107556793	8	5	464	1	0	1	1	0	0	0	1	0	28	1536	53	0	1448	0	ABCA1	9	107556793	Splice_Site	INS	-	TCGA-YL-A8SO-01B-31D-A377-08	72008736	107556793	33656638	31	31455											
ANK3	288	broad.mit.edu	37	chr10	61834099	61834099	+	Frame_Shift_Del	DEL	A	A	-																															tgggtctggggaacatccccAgctgagggatcatagctcct																										TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr10:61834099delA	ENST00000280772.2	-	37	6731	c.6540delT	c.(6538-6540)gctfs	p.A2180fs	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2180					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			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						GAACATCCCCAGCTGAGGGAT	0.463																																						ENST00000280772.1																			0				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						c.(6538-6540)gcfs		ankyrin 3, node of Ranvier (ankyrin G)							110	109	109					10																	61834099		2203	4300	6503	SO:0001589	frameshift_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61834099delA	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6540delT	10.37:g.61834099delA	ENSP00000280772:p.Ala2180fs					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.A2180fs	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	6731	-			2180					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Del	DEL	ENST00000280772.2	37	c.6540delT	CCDS7258.1																																																																																				0.463	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		10	134						10	134	---	---	---	---	-	61834099	A	-	61834099	7	5	464	1	0	1	0	1	0	0	0	0	622	175	7	0	6934	0	ANK3	10	61834099	Frame_Shift_Del	DEL	A	TCGA-YL-A8SO-01B-31D-A377-08		61834099	73700648	32	31456											
MLL	4297	broad.mit.edu	37	chr11	118374348	118374348	+	Frame_Shift_Del	DEL	A	A	-																															cccaaccaagccccaataatAcctcatgccaggattctcaa																										TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr11:118374348delA	ENST00000389506.5	+	27	7732	c.7732delA	c.(7732-7734)accfs	p.T2578fs	KMT2A_ENST00000534358.1_Frame_Shift_Del_p.T2581fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.T2540fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2578					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CCCCAATAATACCTCATGCCA	0.478																																						ENST00000534358.1																			0											c.(7741-7743)ccfs		lysine (K)-specific methyltransferase 2A							62	63	63					11																	118374348		2200	4296	6496	SO:0001589	frameshift_variant	4297							g.chr11:118374348delA	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7732delA	11.37:g.118374348delA	ENSP00000374157:p.Thr2578fs					KMT2A_ENST00000389506.5_Frame_Shift_Del_p.T2578fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.T2540fs	p.T2581fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	7764	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Del	DEL	ENST00000389506.5	37	c.7741delA	CCDS31686.1																																																																																				0.478	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		11	35						11	35	---	---	---	---	-	118374348	A	-	118374348	7	5	464	1	0	1	0	1	0	0	0	0	9620	391	14	0	7838	0	MLL	11	118374348	Frame_Shift_Del	DEL	A	TCGA-YL-A8SO-01B-31D-A377-08		118374348	16632168	33	31457											
CLEC4C	170482	broad.mit.edu	37	chr12	7882195	7882195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagggagaatatttcatttaTatgtagatcttcttcatctt	11	18	6	6	0	5	2	2	0	3	2	5	3	5	2	0	1	0	1	0	1	5	9	rs147980423		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr12:7882195T>C	ENST00000542353.1	-	7	1129	c.639A>G	c.(637-639)atA>atG	p.I213M	CLEC4C_ENST00000360345.3_Missense_Mutation_p.I213M|CLEC4C_ENST00000354629.5_Missense_Mutation_p.I182M|CLEC4C_ENST00000540085.1_Missense_Mutation_p.I182M	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	213					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.I213M(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		ATTTCATTTATATGTAGATCT	0.353																																						ENST00000542353.1																			1	Substitution - Missense(1)	p.I213M(1)	lung(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(637-639)atA>atG		C-type lectin domain family 4, member C		T	MET/ILE,MET/ILE	1,4405	2.1+/-5.4	0,1,2202	102	95	97		639,546	0.4	0.8	12	dbSNP_134	97	0,8600		0,0,4300	no	missense,missense	CLEC4C	NM_130441.2,NM_203503.1	10,10	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	213/214,182/183	7882195	1,13005	2203	4300	6503	SO:0001583	missense	170482				innate immune response	integral to membrane	sugar binding	g.chr12:7882195T>C	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"C-type lectin domain containing", "CD molecules"	13258	protein-coding gene	gene with protein product		606677	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.639A>G	12.37:g.7882195T>C	ENSP00000440428:p.Ile213Met					CLEC4C_ENST00000360345.3_Missense_Mutation_p.I213M|CLEC4C_ENST00000354629.5_Missense_Mutation_p.I182M|CLEC4C_ENST00000540085.1_Missense_Mutation_p.I182M	p.I213M	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	7	1129	-			213					D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	c.639A>G	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	T	8.930	0.963293	0.18583	2.27E-4	0.0	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	T;T;T;T	0.02579	4.31;4.24;4.24;4.31	1.66	0.398	0.16319	.	.	.	.	.	T	0.03178	0.0093	N	0.22421	0.69	0.20074	N	0.999931	B;D	0.53312	0.399;0.959	B;P	0.49301	0.057;0.606	T	0.45934	-0.9227	9	0.72032	D	0.01	.	4.4536	0.11633	0.0:0.0:0.3502:0.6498	.	182;213	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	M	213;182;182;213	ENSP00000440428:I213M;ENSP00000346648:I182M;ENSP00000445338:I182M;ENSP00000353500:I213M	ENSP00000346648:I182M	I	-	3	3	CLEC4C	7773462	0.182000	0.23173	0.766000	0.31476	0.049000	0.14656	-0.112000	0.10791	0.101000	0.17610	0.418000	0.28097	ATA		0.353	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		5	38	0	0	0	1	0	5	38					C	7882195	T	C	7882195	3	2	464	1	0	0	0	0	1	0	0	0	3513	1396	49	4	6	4	CLEC4C	12	7882195	Missense_Mutation	SNP	T	TCGA-YL-A8SO-01B-31D-A377-08		7882195	125969700	34	31458											
CCNA1	8900	broad.mit.edu	37	chr13	37014263	37014263	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccaaccaccaaccagttTctccttcagtacttgaggcg	10	10	7	14	1	2	1	1	1	1	0	3	1	2	1	5	1	4	3	5	1	4	5			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr13:37014263T>C	ENST00000255465.4	+	6	1305	c.1041T>C	c.(1039-1041)ttT>ttC	p.F347F	CCNA1_ENST00000418263.1_Silent_p.F346F|CCNA1_ENST00000440264.1_Silent_p.F303F|CCNA1_ENST00000449823.1_Silent_p.F303F			P78396	CCNA1_HUMAN	cyclin A1	347					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CCAACCAGTTTCTCCTTCAGT	0.458																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(1036-1038)ttT>ttC		cyclin A1							158	156	157					13																	37014263		2203	4300	6503	SO:0001819	synonymous_variant	8900				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	g.chr13:37014263T>C	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1041T>C	13.37:g.37014263T>C						CCNA1_ENST00000255465.4_Silent_p.F347F|CCNA1_ENST00000440264.1_Silent_p.F303F|CCNA1_ENST00000449823.1_Silent_p.F303F	p.F346F	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	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)	6	1388	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	347					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Silent	SNP	ENST00000255465.4	37	c.1038T>C	CCDS9357.1																																																																																				0.458	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		28	86	0	0	0	1	0	28	86					C	37014263	T	C	37014263	2	2	464	1	0	0	0	0	0	0	0	1	2909	1780	62	4		4	CCNA1	13	37014263	Silent	SNP	T	TCGA-YL-A8SO-01B-31D-A377-08		37014263	78155615	35	31459											
TRMT61A	115708	broad.mit.edu	37	chr14	104000981	104000981	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcagagctgagcaccctGgaggtgctgccacaggtcta	8	9	12	12	0	2	2	1	1	2	1	3	3	2	3	2	3	4	3	2	3	1	2			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr14:104000981G>A	ENST00000389749.4	+	4	800	c.693G>A	c.(691-693)ctG>ctA	p.L231L		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	231						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						TGAGCACCCTGGAGGTGCTGC	0.682																																						ENST00000389749.4																			0				skin(1)	1						c.(691-693)ctG>ctA		tRNA methyltransferase 61 homolog A (S. cerevisiae)							16	22	20					14																	104000981		2102	4197	6299	SO:0001819	synonymous_variant	115708					nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity	g.chr14:104000981G>A	AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 172"	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.693G>A	14.37:g.104000981G>A							p.L231L	NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN			4	800	+			231					A6NN78|Q8N7Q9	Silent	SNP	ENST00000389749.4	37	c.693G>A	CCDS41994.1	.	.	.	.	.	.	.	.	.	.	G	4.554	0.102945	0.08731	.	.	ENSG00000166166	ENST00000299202	.	.	.	4.67	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.1472	7.9809	0.30183	0.0857:0.1624:0.752:0.0	.	.	.	.	X	133	.	.	W	+	2	0	TRMT61A	103070734	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	3.304000	0.51866	2.140000	0.66376	0.313000	0.20887	TGG		0.682	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414988.1	NM_152307		13	11	0	0	0	1	0	13	11					A	104000981	G	A	104000981	2	1	464	1	0	0	0	0	0	0	0	1	16566	1335	47	3		3	TRMT61A	14	104000981	Silent	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08		104000981	3348559	36	31460											
FGF7	2252	broad.mit.edu	37	chr15	49776572	49776572	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccattacaacacatatgcAtcagctaaatggacacacaa	19	7	4	11	0	1	0	1	0	0	0	1	1	1	1	1	1	5	2	1	1	7	3			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr15:49776572A>C	ENST00000267843.4	+	4	1067	c.456A>C	c.(454-456)gcA>gcC	p.A152A	FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	152					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.A152A(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		ACACATATGCATCAGCTAAAT	0.338																																						ENST00000267843.4																			1	Substitution - coding silent(1)	p.A152A(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(454-456)gcA>gcC		fibroblast growth factor 7	Palifermin(DB00039)						55	53	54					15																	49776572		2037	3875	5912	SO:0001819	synonymous_variant	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776572A>C	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"Endogenous ligands"	3685	protein-coding gene	gene with protein product	"keratinocyte growth factor"	148180	"fibroblast growth factor 7 (keratinocyte growth factor)"			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.456A>C	15.37:g.49776572A>C						FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron	p.A152A	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	4	1067	+		all_lung(180;0.00391)	152					H0YNY5|Q6FGV5|Q96FG5	Silent	SNP	ENST00000267843.4	37	c.456A>C	CCDS10131.1																																																																																				0.338	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		3	57	0	0	0	1	0	3	57					C	49776572	A	C	49776572	2	2	464	1	0	0	0	0	0	0	0	1	5857	204	8	5		5	FGF7	15	49776572	Silent	SNP	A	TCGA-YL-A8SO-01B-31D-A377-08		49776572	52754820	37	31461											
GRIN2A	2903	broad.mit.edu	37	chr16	9857616	9857616	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctggtagacctgctccccgGtggctgggttacctgtctcc	3	11	13	14	1	1	1	0	0	1	1	3	1	2	1	5	4	2	5	5	4	2	2	rs587780351		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr16:9857616G>C	ENST00000396573.2	-	14	4094	c.3785C>G	c.(3784-3786)aCc>aGc	p.T1262S	GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1262S|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1262S|GRIN2A_ENST00000562109.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1262					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTGCTCCCCGGTGGCTGGGTT	0.522																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3784-3786)aCc>aGc		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						103	93	97					16																	9857616		2197	4300	6497	SO:0001583	missense	0				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	g.chr16:9857616G>C		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3785C>G	16.37:g.9857616G>C	ENSP00000379818:p.Thr1262Ser					GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1262S|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1262S|GRIN2A_ENST00000535259.1_Intron	p.T1262S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	4094	-			1262					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3785C>G	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	2.639	-0.284593	0.05605	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.09911	2.93;2.93;2.93	5.11	1.55	0.23275	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.764422	0.13289	N	0.399108	T	0.05640	0.0148	N	0.22421	0.69	0.22280	N	0.999235	B	0.06786	0.001	B	0.09377	0.004	T	0.40440	-0.9563	9	.	.	.	.	1.996	0.03456	0.1799:0.1217:0.4535:0.2448	.	1262	Q12879	NMDE1_HUMAN	S	1262	ENSP00000379818:T1262S;ENSP00000332549:T1262S;ENSP00000379820:T1262S	.	T	-	2	0	GRIN2A	9765117	0.028000	0.19301	0.355000	0.25773	0.997000	0.91878	0.453000	0.21811	0.515000	0.28320	0.655000	0.94253	ACC		0.522	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			3	81	0	0	0	1	0	3	81					C	9857616	G	C	9857616	3	2	464	1	0	0	0	0	1	0	0	0	6779	1261	44	5	613	5	GRIN2A	16	9857616	Missense_Mutation	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08		9857616	80497137	38	31462											
OR1D2	4991	broad.mit.edu	37	chr17	2995484	2995484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcactgtggctactgagtcCttcacagagtaggtatggag	10	11	12	8	0	2	2	2	1	0	1	3	3	3	3	1	3	1	3	1	3	3	4			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:2995484C>A	ENST00000331459.1	-	1	806	c.807G>T	c.(805-807)aaG>aaT	p.K269N		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	269					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CTACTGAGTCCTTCACAGAGT	0.512																																						ENST00000331459.1																			0				kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						c.(805-807)aaG>aaT		olfactory receptor, family 1, subfamily D, member 2							110	104	106					17																	2995484		2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2995484C>A	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"GPCR / Class A : Olfactory receptors"	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.807G>T	17.37:g.2995484C>A	ENSP00000327585:p.Lys269Asn						p.K269N	NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN			1	806	-			269					Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.807G>T	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	c	12.81	2.049341	0.36181	.	.	ENSG00000184166	ENST00000331459	T	0.00107	8.72	3.21	-0.214	0.13161	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.46885	1.475	0.09310	N	0.999999	P	0.46912	0.886	P	0.49361	0.608	T	0.39722	-0.9600	9	0.66056	D	0.02	.	3.4795	0.07597	0.1745:0.4799:0.0:0.3456	.	269	P34982	OR1D2_HUMAN	N	269	ENSP00000327585:K269N	ENSP00000327585:K269N	K	-	3	2	OR1D2	2942234	0.000000	0.05858	0.959000	0.39883	0.721000	0.41392	-1.650000	0.01991	0.077000	0.16863	0.543000	0.68304	AAG		0.512	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		4	62	1	0	3.59834e-05	1	3.85536e-05	4	62					A	2995484	C	A	2995484	3	1	464	1	0	0	0	0	1	0	0	0	10953	680	24	5	134	5	OR1D2	17	2995484	Missense_Mutation	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08		2995484	78199726	39	31463											
DNAH2	146754	broad.mit.edu	37	chr17	7680790	7680790	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcctgaataagtattcagaAgccatcagggggaacttgac	14	9	10	8	0	2	3	2	2	0	1	3	4	3	4	2	2	2	1	2	2	5	4			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:7680790A>C	ENST00000572933.1	+	33	6545	c.5085A>C	c.(5083-5085)gaA>gaC	p.E1695D	DNAH2_ENST00000389173.2_Missense_Mutation_p.E1695D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1695	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)				AGTATTCAGAAGCCATCAGGG	0.498																																						ENST00000572933.1																			0				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						c.(5083-5085)gaA>gaC		dynein, axonemal, heavy chain 2							273	270	271					17																	7680790		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7680790A>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5085A>C	17.37:g.7680790A>C	ENSP00000458355:p.Glu1695Asp					DNAH2_ENST00000389173.2_Missense_Mutation_p.E1695D	p.E1695D			Q9P225	DYH2_HUMAN			33	6545	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1695			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.5085A>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843483	0.32606	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.22336	1.96	5.51	0.222	0.15288	.	0.126125	0.52532	D	0.000080	T	0.11153	0.0272	L	0.31120	0.905	0.80722	D	1	B	0.14805	0.011	B	0.17979	0.02	T	0.21930	-1.0231	10	0.11485	T	0.65	.	6.4479	0.21887	0.5362:0.1288:0.335:0.0	.	1695	Q9P225	DYH2_HUMAN	D	1695	ENSP00000373825:E1695D	ENSP00000353818:E1695D	E	+	3	2	DNAH2	7621515	0.987000	0.35691	0.998000	0.56505	0.982000	0.71751	0.257000	0.18369	0.073000	0.16731	0.477000	0.44152	GAA		0.498	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		18	322	0	0	0	1	0	18	322					C	7680790	A	C	7680790	3	2	464	1	0	0	0	0	1	0	0	0	4602	69	3	5	5211	5	DNAH2	17	7680790	Missense_Mutation	SNP	A	TCGA-YL-A8SO-01B-31D-A377-08	4685306	7680790	73514420	40	31464											
CWC25	54883	broad.mit.edu	37	chr17	36981421	36981421	+	Frame_Shift_Del	DEL	G	G	-																															aggcctccctccactcaccaGgtctccgccccccatgacgg																										TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:36981421delG	ENST00000225428.5	-	1	313	c.16delC	c.(16-18)ctgfs	p.L6fs	MIR4727_ENST00000584037.1_RNA|CWC25_ENST00000536127.1_5'UTR	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	6										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CCACTCACCAGGTCTCCGCCC	0.597																																						ENST00000225428.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						c.(16-18)tgfs		CWC25 spliceosome-associated protein homolog (S. cerevisiae)							35	35	35					17																	36981421		1857	4086	5943	SO:0001589	frameshift_variant	54883							g.chr17:36981421delG	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"coiled-coil domain containing 49"	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.16delC	17.37:g.36981421delG	ENSP00000225428:p.Leu6fs					CWC25_ENST00000536127.1_5'UTR	p.L6fs	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN			1	313	-			6					A0JLM3|Q68DK5	Frame_Shift_Del	DEL	ENST00000225428.5	37	c.16delC	CCDS45663.1																																																																																				0.597	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		2	4						2	4	---	---	---	---	-	36981421	G	-	36981421	7	5	464	1	0	1	0	1	0	0	0	0	4069	991	35	0	1301	0	CWC25	17	36981421	Frame_Shift_Del	DEL	G	TCGA-YL-A8SO-01B-31D-A377-08	29300631	36981421	44213789	41	31465											
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	10	13	6	12	0	2	2	0	2	2	0	3	3	3	2	4	0	3	1	4	0	3	4			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:47696432A>C	ENST00000393328.2	-	6	756	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000393331.3_Missense_Mutation_p.W131G	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Ggg		speckle-type POZ protein							121	124	123					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>G	17.37:g.47696432A>C	ENSP00000377001:p.Trp131Gly	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G	p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058244	0.76074	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	H	0.95402	3.665	0.80722	D	1	P	0.43024	0.798	P	0.47786	0.557	D	0.87031	0.2135	10	0.72032	D	0.01	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	G	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131G;ENSP00000377004:W131G;ENSP00000240327:W131G;ENSP00000425905:W131G;ENSP00000420908:W131G;ENSP00000426986:W131G;ENSP00000420960:W131G;ENSP00000426262:W131G;ENSP00000424119:W131G	ENSP00000240327:W131G	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		39	85	0	0	0	1	0	39	85					C	47696432	A	C	47696432	3	2	464	1	0	0	0	0	1	0	0	0	15083	188	7	5	757	5	SPOP	17	47696432	Missense_Mutation	SNP	A	TCGA-YL-A8SO-01B-31D-A377-08	10715011	47696432	33498778	42	31466											
ACTG1	71	broad.mit.edu	37	chr17	79478956	79478956	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcttctctctgttggccttGgggttcaggggggcctcggt	2	14	15	10	1	4	0	1	0	3	0	6	0	4	0	2	7	0	2	2	7	0	4	rs532725688		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:79478956G>A	ENST00000575842.1	-	2	762	c.336C>T	c.(334-336)ccC>ccT	p.P112P	RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000573283.1_Silent_p.P112P|ACTG1_ENST00000331925.2_Silent_p.P112P|ACTG1_ENST00000575087.1_Silent_p.P112P|AC139149.1_ENST00000584254.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	112					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGTTGGCCTTGGGGTTCAGGG	0.622																																						ENST00000575842.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29						c.(334-336)ccC>ccT		actin, gamma 1							44	55	51					17																	79478956		2203	4298	6501	SO:0001819	synonymous_variant	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79478956G>A		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.336C>T	17.37:g.79478956G>A						ACTG1_ENST00000331925.2_Silent_p.P112P|ACTG1_ENST00000573283.1_Silent_p.P112P|ACTG1_ENST00000575087.1_Silent_p.P112P	p.P112P			P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		2	762	-	all_neural(118;0.0878)|Melanoma(429;0.242)		112					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000575842.1	37	c.336C>T	CCDS11782.1																																																																																				0.622	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		19	38	0	0	0	1	0	19	38					A	79478956	G	A	79478956	2	1	464	1	0	0	0	0	0	0	0	1	196	1335	47	3		3	ACTG1	17	79478956	Silent	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08	31782524	79478956	1716254	43	31467											
TMEM146	257062	broad.mit.edu	37	chr19	5751816	5751816	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttctcatggaccctgaactCcacgttggaaagtgcaaggt	10	10	10	11	1	1	1	1	1	1	0	3	3	2	3	2	3	2	2	2	3	3	2			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:5751816C>G	ENST00000381624.3	+	12	1207	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L	CATSPERD_ENST00000381614.2_Silent_p.L40L	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	382					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											ACCCTGAACTCCACGTTGGAA	0.468																																						ENST00000381624.3																			0											c.(1144-1146)ctC>ctG		catsper channel auxiliary subunit delta							68	63	64					19																	5751816		1919	4126	6045	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5751816C>G	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1146C>G	19.37:g.5751816C>G						CATSPERD_ENST00000381614.2_Silent_p.L40L	p.L382L	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			12	1207	+			382					Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.1146C>G	CCDS12149.2																																																																																				0.468	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		9	57	0	0	0	1	0	9	57					G	5751816	C	G	5751816	2	3	464	1	0	0	0	0	0	0	0	1	16057	842	30	5		5	TMEM146	19	5751816	Silent	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08		5751816	53377167	44	31468											
MUC16	94025	broad.mit.edu	37	chr19	9086501	9086501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtcataactgtggtgacctCcttggtccaaaatgtgctgc	8	12	11	10	0	1	1	1	1	0	0	3	1	3	1	3	3	3	1	3	3	3	2			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:9086501C>T	ENST00000397910.4	-	1	5517	c.5314G>A	c.(5314-5316)Gag>Aag	p.E1772K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1772	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				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						GTGGTGACCTCCTTGGTCCAA	0.493																																						ENST00000397910.4																			0				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						c.(5314-5316)Gag>Aag		mucin 16, cell surface associated							120	113	115					19																	9086501		1970	4143	6113	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086501C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5314G>A	19.37:g.9086501C>T	ENSP00000381008:p.Glu1772Lys						p.E1772K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	5517	-			1772			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.5314G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.903	0.167778	0.09339	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	1.32	-2.12	0.07165	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	.	.	.	P	0.34977	0.478	B	0.23716	0.048	T	0.45056	-0.9287	8	0.87932	D	0	.	4.9511	0.14015	0.0:0.509:0.0:0.491	.	1772	B5ME49	.	K	1772	ENSP00000381008:E1772K	ENSP00000381008:E1772K	E	-	1	0	MUC16	8947501	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-1.474000	0.02337	-0.700000	0.05070	0.305000	0.20034	GAG		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		25	57	0	0	0	1	0	25	57					T	9086501	C	T	9086501	3	4	464	1	0	0	0	0	1	0	0	0	9973	864	30	3	38545	3	MUC16	19	9086501	Missense_Mutation	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08	3334685	9086501	50042482	45	31469											
SIPA1L3	23094	broad.mit.edu	37	chr19	38610375	38610375	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacttacgcaccaaggaggtGgtgttcaactgctactgcgg	9	9	13	10	2	1	0	1	0	0	0	1	2	1	1	1	4	5	3	1	4	4	3			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:38610375G>A	ENST00000222345.6	+	9	3230	c.2721G>A	c.(2719-2721)gtG>gtA	p.V907V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	907					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			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)			CCAAGGAGGTGGTGTTCAACT	0.542																																						ENST00000222345.6																			0				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						c.(2719-2721)gtG>gtA		signal-induced proliferation-associated 1 like 3							111	123	119					19																	38610375		2202	4300	6502	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38610375G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2721G>A	19.37:g.38610375G>A							p.V907V	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	3230	+			907					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.2721G>A	CCDS33007.1																																																																																				0.542	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		6	98	0	0	0	1	0	6	98					A	38610375	G	A	38610375	2	1	464	1	0	0	0	0	0	0	0	1	14331	1335	47	3		3	SIPA1L3	19	38610375	Silent	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08	29523874	38610375	20518608	46	31470											
ZNF836	162962	broad.mit.edu	37	chr19	52658800	52658800	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccagtaggatttctgtgAtatcttgcaagttttgaact	9	16	8	8	0	2	2	0	2	2	0	3	3	3	3	2	1	2	3	2	1	4	6			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:52658800A>G	ENST00000322146.8	-	5	2657	c.2136T>C	c.(2134-2136)taT>taC	p.Y712Y	ZNF836_ENST00000597252.1_Silent_p.Y712Y|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	712					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GATTTCTGTGATATCTTGCAA	0.398																																						ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2134-2136)taT>taC		zinc finger protein 836							67	67	67					19																	52658800		1976	4174	6150	SO:0001819	synonymous_variant	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52658800A>G	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2136T>C	19.37:g.52658800A>G						ZNF836_ENST00000597252.1_Silent_p.Y712Y|CTC-471J1.8_ENST00000594362.1_RNA	p.Y712Y	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			5	2657	-			712						Silent	SNP	ENST00000322146.8	37	c.2136T>C	CCDS46162.1																																																																																				0.398	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		7	56	0	0	0	1	0	7	56					G	52658800	A	G	52658800	2	3	464	1	0	0	0	0	0	0	0	1	18184	340	12	4		4	ZNF836	19	52658800	Silent	SNP	A	TCGA-YL-A8SO-01B-31D-A377-08	14048425	52658800	6470183	47	31471											
KIR2DL1	3811	broad.mit.edu	37	chr19	55294987	55294987	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaacagaacagcgaatagCgaggtaggtactcctcggcc	13	5	13	10	3	0	1	0	0	0	1	2	4	1	2	2	4	5	2	2	4	6	3	rs2736416		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:55294987C>T	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000291633.7_Silent_p.S315S|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Silent_p.S289S|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000336077.6_Silent_p.S289S			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CAGCGAATAGCGAGGTAGGTA	0.532																																						ENST00000336077.6																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(865-867)agC>agT		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1							153	156	155					19																	55294987		2170	4188	6358	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55294987C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-34002C>T	19.37:g.55294987C>T						KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Silent_p.S289S|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Silent_p.S315S|KIR3DL1_ENST00000541392.1_Intron	p.S289S	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	7	907	+			289					O43473|Q14946|Q16541	Silent	SNP	ENST00000538269.1	37	c.867C>T																																																																																					0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		8	83	0	0	0	1	0	8	83					T	55294987	C	T	55294987	1	4	464	0	1	0	0	0	0	0	0	0	8316	767	27	1		1	KIR2DL1	19	55294987	Intron	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08	2636187	55294987	3833996	48	31472											
PLCB4	5332	broad.mit.edu	37	chr20	9388600	9388600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagatgagcaggcgtggatgGcatcttataaatatgtaggt	13	11	13	4	1	1	2	0	1	1	1	1	3	1	3	0	4	1	3	0	4	6	4			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr20:9388600G>T	ENST00000378493.1	+	18	1663	c.1648G>T	c.(1648-1650)Gca>Tca	p.A550S	PLCB4_ENST00000278655.4_Missense_Mutation_p.A550S|PLCB4_ENST00000378501.2_Missense_Mutation_p.A550S|PLCB4_ENST00000334005.3_Missense_Mutation_p.A550S|PLCB4_ENST00000414679.2_Missense_Mutation_p.A562S|PLCB4_ENST00000378473.3_Missense_Mutation_p.A562S|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	550					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			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						GGCGTGGATGGCATCTTATAA	0.448																																						ENST00000378501.2																			0				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						c.(1648-1650)Gca>Tca		phospholipase C, beta 4							168	153	158					20																	9388600		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9388600G>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1648G>T	20.37:g.9388600G>T	ENSP00000367754:p.Ala550Ser					PLCB4_ENST00000378493.1_Missense_Mutation_p.A550S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.A562S|PLCB4_ENST00000378473.3_Missense_Mutation_p.A562S|PLCB4_ENST00000334005.3_Missense_Mutation_p.A550S|PLCB4_ENST00000278655.4_Missense_Mutation_p.A550S	p.A550S	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			18	1663	+			550					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1648G>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609500	0.66558	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	5.56	5.56	0.83823	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.121669	0.56097	D	0.000037	T	0.57095	0.2030	L	0.48642	1.525	0.80722	D	1	P;P;B;P	0.49358	0.923;0.481;0.141;0.716	P;B;B;B	0.54100	0.742;0.164;0.064;0.407	T	0.49485	-0.8935	10	0.32370	T	0.25	.	19.5275	0.95212	0.0:0.0:1.0:0.0	.	562;397;550;550	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	S	550;562;550;550;550;398	ENSP00000334105:A550S;ENSP00000367734:A562S;ENSP00000278655:A550S;ENSP00000367754:A550S;ENSP00000367762:A550S;ENSP00000390616:A398S	ENSP00000278655:A550S	A	+	1	0	PLCB4	9336600	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.486000	0.66856	2.616000	0.88540	0.563000	0.77884	GCA		0.448	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			26	96	1	0	9.57634e-11	1	1.10496e-10	26	96					T	9388600	G	T	9388600	3	4	464	1	0	0	0	0	1	0	0	0	12030	1203	42	5	1758	5	PLCB4	20	9388600	Missense_Mutation	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08		9388600	53636920	49	31473											
TTLL1	25809	broad.mit.edu	37	chr22	43460261	43460261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggtcgaacttcctcccGccaattagtaacgggttgtt	8	11	10	12	4	0	0	0	0	0	0	3	1	2	0	3	2	2	4	3	2	4	5	rs553997208		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr22:43460261G>A	ENST00000266254.7	-	6	813	c.573C>T	c.(571-573)ggC>ggT	p.G191G	TTLL1_ENST00000331018.7_Silent_p.G191G	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	191	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		ACTTCCTCCCGCCAATTAGTA	0.443													G|||	1	0.000199681	0	0.0014	5008	,	,		18567	0		0	False		,,,				2504	0					ENST00000331018.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(571-573)ggC>ggT		tubulin tyrosine ligase-like family, member 1							113	102	106					22																	43460261		2203	4300	6503	SO:0001819	synonymous_variant	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43460261G>A	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.573C>T	22.37:g.43460261G>A						TTLL1_ENST00000266254.7_Silent_p.G191G	p.G191G			O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	6	813	-		Ovarian(80;0.0694)	191			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	37	c.573C>T	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	G	5.471	0.271941	0.10349	.	.	ENSG00000100271	ENST00000495814	.	.	.	5.7	-2.69	0.06022	.	.	.	.	.	T	0.39118	0.1066	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28459	-1.0043	4	.	.	.	.	1.7923	0.03054	0.382:0.2165:0.2908:0.1106	.	.	.	.	V	117	.	.	A	-	2	0	TTLL1	41790205	0.009000	0.17119	0.768000	0.31515	0.365000	0.29674	-1.156000	0.03160	-0.666000	0.05310	-0.373000	0.07131	GCG		0.443	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		3	42	0	0	0	1	0	3	42					A	43460261	G	A	43460261	2	1	464	1	0	0	0	0	0	0	0	1	16719	1074	38	1		1	TTLL1	22	43460261	Silent	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08		43460261	7844305	50	31474											
SSX5	6758	broad.mit.edu	37	chrX	48053626	48053626	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaagtctgcgacccgtttAttacgcatgaaaggtgggag	10	10	14	7	3	1	1	0	1	1	0	1	4	1	3	1	3	2	2	1	3	4	3			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chrX:48053626A>G	ENST00000376923.1	-	3	218	c.219T>C	c.(217-219)aaT>aaC	p.N73N	SSX5_ENST00000347757.1_Silent_p.N73N|SSX5_ENST00000311798.1_Silent_p.N114N			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	73	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CGACCCGTTTATTACGCATGA	0.483																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(340-342)aaT>aaC		synovial sarcoma, X breakpoint 5							151	133	139					X																	48053626		2203	4299	6502	SO:0001819	synonymous_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48053626A>G	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.219T>C	X.37:g.48053626A>G						SSX5_ENST00000347757.1_Silent_p.N73N|SSX5_ENST00000376923.1_Silent_p.N73N	p.N114N	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			5	394	-			73					Q5JQ59|Q5JQ60|Q96AW3	Silent	SNP	ENST00000376923.1	37	c.342T>C	CCDS14289.1																																																																																				0.483	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		27	25	0	0	0	1	0	27	25					G	48053626	A	G	48053626	2	3	464	1	0	0	0	0	0	0	0	1	15207	446	16	4		4	SSX5	23	48053626	Silent	SNP	A	TCGA-YL-A8SO-01B-31D-A377-08		48053626	107216934	51	31475											
ATP7A	538	broad.mit.edu	37	chrX	77264645	77264645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtacataaaatagagtctaGtctcacaaaacacagaggga	18	7	8	8	1	2	2	1	0	2	2	3	3	2	3	0	1	2	1	0	1	7	4			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chrX:77264645G>A	ENST00000341514.6	+	7	1909	c.1754G>A	c.(1753-1755)aGt>aAt	p.S585N	ATP7A_ENST00000343533.5_Missense_Mutation_p.S585N|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	585	HMA 6. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATAGAGTCTAGTCTCACAAAA	0.408																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(1753-1755)aGt>aAt		ATPase, Cu++ transporting, alpha polypeptide							208	204	205					X																	77264645		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77264645G>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1754G>A	X.37:g.77264645G>A	ENSP00000345728:p.Ser585Asn					ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.S585N	p.S585N	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			7	1909	+			585			HMA 6.		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.1754G>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	0.209	-1.038069	0.02013	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.86164	-2.08;-2.08	5.1	2.27	0.28462	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.247613	0.39615	N	0.001310	T	0.68366	0.2993	N	0.05510	-0.035	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.15052	0.001;0.012	T	0.49418	-0.8942	10	0.16896	T	0.51	-3.37	4.7722	0.13162	0.1393:0.5084:0.2721:0.0801	.	585;595	Q04656;Q59HD1	ATP7A_HUMAN;.	N	585;585;595	ENSP00000343026:S585N;ENSP00000345728:S585N	ENSP00000345728:S585N	S	+	2	0	ATP7A	77151301	0.338000	0.24775	0.716000	0.30569	0.032000	0.12392	0.419000	0.21247	0.053000	0.16036	-2.164000	0.00325	AGT		0.408	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		5	142	0	0	0	1	0	5	142					A	77264645	G	A	77264645	3	1	464	1	0	0	0	0	1	0	0	0	1190	1029	36	3	1776	3	ATP7A	23	77264645	Missense_Mutation	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08	29211019	77264645	78005915	52	31476											
GPR112	139378	broad.mit.edu	37	chrX	135426829	135426829	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgttttatcaacttcaTcagccatctctctgcctacc	8	15	5	13	0	5	0	3	0	2	0	6	1	5	1	3	1	4	1	3	1	3	4			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chrX:135426829T>A	ENST00000394143.1	+	6	1255	c.964T>A	c.(964-966)Tca>Aca	p.S322T	GPR112_ENST00000370652.1_Missense_Mutation_p.S322T|GPR112_ENST00000412101.1_Missense_Mutation_p.S117T|GPR112_ENST00000287534.4_Missense_Mutation_p.S259T|GPR112_ENST00000394141.1_Missense_Mutation_p.S117T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	322					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCAACTTCATCAGCCATCTC	0.383																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(964-966)Tca>Aca		G protein-coupled receptor 112							122	104	111					X																	135426829		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135426829T>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.964T>A	X.37:g.135426829T>A	ENSP00000377699:p.Ser322Thr					GPR112_ENST00000370652.1_Missense_Mutation_p.S322T|GPR112_ENST00000394141.1_Missense_Mutation_p.S117T|GPR112_ENST00000287534.4_Missense_Mutation_p.S259T|GPR112_ENST00000412101.1_Missense_Mutation_p.S117T	p.S322T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	1255	+	Acute lymphoblastic leukemia(192;0.000127)		322					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.964T>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	t	0.157	-1.085486	0.01873	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.27720	1.69;1.69;1.65;1.81;1.65	4.27	1.9	0.25705	.	.	.	.	.	T	0.08891	0.0220	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.36625	-0.9740	9	0.02654	T	1	.	3.8811	0.09079	0.1734:0.0:0.6081:0.2185	.	259;117;322	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	T	322;322;117;259;117	ENSP00000377699:S322T;ENSP00000359686:S322T;ENSP00000416526:S117T;ENSP00000287534:S259T;ENSP00000377697:S117T	ENSP00000287534:S259T	S	+	1	0	GPR112	135254495	0.856000	0.29760	0.078000	0.20375	0.010000	0.07245	0.342000	0.19926	0.168000	0.19655	-0.365000	0.07479	TCA		0.383	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			23	22	0	0	0	1	0	23	22					A	135426829	T	A	135426829	3	1	464	1	0	0	0	0	1	0	0	0	6629	1435	50	5	974	5	GPR112	23	135426829	Missense_Mutation	SNP	T	TCGA-YL-A8SO-01B-31D-A377-08	58162184	135426829	19843731	53	31477											
MAGEC1	9947	broad.mit.edu	37	chrX	140994457	140994457	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcctctactttattgagtAttttacagagttctcctgag	8	18	6	9	0	3	3	0	2	3	1	5	3	3	3	2	0	2	2	2	0	4	8	rs199509682		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chrX:140994457A>C	ENST00000285879.4	+	4	1553	c.1267A>C	c.(1267-1269)Att>Ctt	p.I423L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	423										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTATTGAGTATTTTACAGAG	0.463										HNSCC(15;0.026)																												ENST00000285879.4																			0				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						c.(1267-1269)Att>Ctt		melanoma antigen family C, 1							101	112	108					X																	140994457		2193	4287	6480	SO:0001583	missense	9947						protein binding	g.chrX:140994457A>C	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1267A>C	X.37:g.140994457A>C	ENSP00000285879:p.Ile423Leu	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.I423L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1553	+	Acute lymphoblastic leukemia(192;6.56e-05)		423					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1267A>C	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	a	0.015	-1.558009	0.00910	.	.	ENSG00000155495	ENST00000285879	T	0.02498	4.27	.	.	.	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.42464	-0.9450	8	0.25106	T	0.35	.	3.6384	0.08158	0.249:0.5004:0.2507:0.0	.	423	O60732	MAGC1_HUMAN	L	423	ENSP00000285879:I423L	ENSP00000285879:I423L	I	+	1	0	MAGEC1	140822123	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-4.696000	0.00197	-3.581000	0.00137	-3.580000	0.00029	ATT		0.463	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		54	41	0	0	0	1	0	54	41					C	140994457	A	C	140994457	3	2	464	1	0	0	0	0	1	0	0	0	9180	449	16	5	1273	5	MAGEC1	23	140994457	Missense_Mutation	SNP	A	TCGA-YL-A8SO-01B-31D-A377-08	5567628	140994457	14276103	54	31478											
ANKRD35	148741	broad.mit.edu	37	chr1	145561191	145561191	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaggaggatgaagacccGtgctcggaggagtggaggtg	11	5	20	5	2	0	3	0	1	0	2	1	9	0	8	1	6	1	1	1	6	2	0			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr1:145561191G>A	ENST00000355594.4	+	10	966	c.879G>A	c.(877-879)ccG>ccA	p.P293P		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	293										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGAAGACCCGTGCTCGGAGG	0.552																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(877-879)ccG>ccA		ankyrin repeat domain 35							61	65	64					1																	145561191		2203	4300	6503	SO:0001819	synonymous_variant	148741							g.chr1:145561191G>A	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.879G>A	1.37:g.145561191G>A							p.P293P	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			10	966	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		293					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	c.879G>A	CCDS919.1																																																																																				0.552	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		14	14	0	0	0	1	0	14	14					A	145561191	G	A	145561191	2	1	465	1	0	0	0	0	0	0	0	1	664	1132	40	1		1	ANKRD35	1	145561191	Silent	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08		145561191	103689430	1	31479											
CNTN2	6900	broad.mit.edu	37	chr1	205033529	205033529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggagagatccttatcccctgCcagccccgggcagctccaaa	9	6	10	16	1	0	1	0	0	0	1	3	3	3	2	7	2	3	2	7	2	2	1			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr1:205033529C>T	ENST00000331830.4	+	11	1604	c.1320C>T	c.(1318-1320)tgC>tgT	p.C440C	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	440	Ig-like C2-type 5.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTATCCCCTGCCAGCCCCGGG	0.637																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(1318-1320)tgC>tgT		contactin 2 (axonal)							88	104	99					1																	205033529		2203	4300	6503	SO:0001819	synonymous_variant	6900				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	g.chr1:205033529C>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1320C>T	1.37:g.205033529C>T							p.C440C	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		11	1604	+	all_cancers(21;0.144)|Breast(84;0.0437)		440			Ig-like C2-type 5.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.1320C>T	CCDS1449.1																																																																																				0.637	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		4	185	0	0	0	1	0	4	185					T	205033529	C	T	205033529	2	4	465	1	0	0	0	0	0	0	0	1	3641	747	26	3		3	CNTN2	1	205033529	Silent	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08	59472338	205033529	44217092	2	31480											
GREM2	64388	broad.mit.edu	37	chr1	240656394	240656394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacgaggacggaggtgaCgcgctggggcttgcagaagg	8	5	18	10	4	0	2	0	1	0	1	1	5	1	4	1	6	1	3	1	6	1	1			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr1:240656394C>T	ENST00000318160.4	-	2	648	c.382G>A	c.(382-384)Gtc>Atc	p.V128I		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	128	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			ACGGAGGTGACGCGCTGGGGC	0.622																																						ENST00000318160.4																			0				endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10						c.(382-384)Gtc>Atc		gremlin 2, DAN family BMP antagonist							61	64	63					1																	240656394		2203	4300	6503	SO:0001583	missense	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656394C>T	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"protein related to DAN and cerberus"	608832	"gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)", "gremlin 2"			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.382G>A	1.37:g.240656394C>T	ENSP00000318650:p.Val128Ile						p.V128I	NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	648	-		all_cancers(173;0.0196)	128			CTCK.		Q86UD9	Missense_Mutation	SNP	ENST00000318160.4	37	c.382G>A	CCDS31070.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022961	0.35701	.	.	ENSG00000180875	ENST00000318160	T	0.30448	1.53	4.97	2.91	0.33838	DAN (1);Cystine knot, C-terminal (2);	0.328711	0.28482	N	0.015189	T	0.14056	0.0340	N	0.08118	0	0.34308	D	0.685162	B	0.19200	0.034	B	0.16289	0.015	T	0.17592	-1.0364	10	0.19590	T	0.45	-7.9142	9.7717	0.40593	0.1478:0.5656:0.2865:0.0	.	128	Q9H772	GREM2_HUMAN	I	128	ENSP00000318650:V128I	ENSP00000318650:V128I	V	-	1	0	GREM2	238723017	0.361000	0.24972	0.998000	0.56505	0.998000	0.95712	0.326000	0.19646	1.037000	0.40024	0.557000	0.71058	GTC		0.622	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469		41	40	0	0	0	1	0	41	40					T	240656394	C	T	240656394	3	4	465	1	0	0	0	0	1	0	0	0	6762	536	19	1	128	1	GREM2	1	240656394	Missense_Mutation	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08	35622865	240656394	8594227	3	31481											
POTEF	728378	broad.mit.edu	37	chr2	130877697	130877697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccacggacgtggtacctgGgctccatgaaggcactgtca	8	8	12	13	2	1	1	1	1	0	0	3	2	3	2	3	4	1	3	3	4	2	1			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr2:130877697G>A	ENST00000409914.2	-	3	791	c.392C>T	c.(391-393)cCc>cTc	p.P131L	POTEF_ENST00000361163.4_Missense_Mutation_p.P131L|POTEF_ENST00000360967.5_Missense_Mutation_p.P131L|POTEF_ENST00000357462.5_Missense_Mutation_p.P131L	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	131					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTGGTACCTGGGCTCCATGAA	0.592																																						ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(391-393)cCc>cTc		POTE ankyrin domain family, member F							77	88	84					2																	130877697		2201	4299	6500	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877697G>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.392C>T	2.37:g.130877697G>A	ENSP00000386786:p.Pro131Leu					POTEF_ENST00000409914.2_Missense_Mutation_p.P131L|POTEF_ENST00000361163.4_Missense_Mutation_p.P131L|POTEF_ENST00000360967.5_Missense_Mutation_p.P131L	p.P131L			A5A3E0	POTEF_HUMAN			1	485	-			131					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.392C>T	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	10.99	1.506635	0.26949	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	1.33	0.392	0.16288	.	.	.	.	.	T	0.30634	0.0771	L	0.37630	1.12	0.09310	N	1	P	0.51933	0.949	B	0.39094	0.29	T	0.22765	-1.0207	9	0.87932	D	0	.	3.49	0.07634	0.2776:0.0:0.7224:0.0	.	131	A5A3E0	POTEF_HUMAN	L	131	ENSP00000350052:P131L;ENSP00000386786:P131L;ENSP00000354232:P131L;ENSP00000355012:P131L	ENSP00000350052:P131L	P	-	2	0	POTEF	130594167	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.127000	0.10547	0.123000	0.18342	0.162000	0.16502	CCC		0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		38	60	0	0	0	1	0	38	60					A	130877697	G	A	130877697	3	1	465	1	0	0	0	0	1	0	0	0	12265	1232	43	3	2895	3	POTEF	2	130877697	Missense_Mutation	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08		130877697	112321676	4	31482											
POTEE	445582	broad.mit.edu	37	chr2	131976367	131976367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacagcgccttcatggagcCcaggtaccacgtccgtggag	8	7	13	13	3	1	1	1	1	0	0	2	3	2	3	4	3	3	1	4	3	1	2			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr2:131976367C>T	ENST00000356920.5	+	1	486	c.392C>T	c.(391-393)cCc>cTc	p.P131L	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.P131L	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	131					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TTCATGGAGCCCAGGTACCAC	0.602																																						ENST00000356920.5																			0											c.(391-393)cCc>cTc		POTE ankyrin domain family, member E							87	90	89					2																	131976367		2203	4300	6503	SO:0001583	missense	445582						ATP binding	g.chr2:131976367C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.392C>T	2.37:g.131976367C>T	ENSP00000439189:p.Pro131Leu					PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.P131L|PLEKHB2_ENST00000404460.1_Intron	p.P131L	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	486	+			131					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.392C>T	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	13.50	2.256466	0.39896	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.50001	0.76;0.76	1.05	1.05	0.20165	.	.	.	.	.	T	0.24586	0.0596	N	0.12746	0.255	0.09310	N	1	P	0.51933	0.949	B	0.39094	0.29	T	0.12682	-1.0538	9	0.87932	D	0	.	5.4993	0.16819	0.0:1.0:0.0:0.0	.	131	Q6S8J3	POTEE_HUMAN	L	131	ENSP00000439189:P131L;ENSP00000443049:P131L	ENSP00000439189:P131L	P	+	2	0	AC131180.1	131692837	0.000000	0.05858	0.002000	0.10522	0.083000	0.17756	-0.542000	0.06091	0.878000	0.35920	0.162000	0.16502	CCC		0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		5	96	0	0	0	1	0	5	96					T	131976367	C	T	131976367	3	4	465	1	0	0	0	0	1	0	0	0	12264	623	22	3	394	3	POTEE	2	131976367	Missense_Mutation	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08	1098670	131976367	111223006	5	31483											
LTF	4057	broad.mit.edu	37	chr3	46492135	46492135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagagtaactcatactcGtccctttcagcctcgtctga	8	11	9	13	2	3	2	2	1	1	1	6	2	4	2	2	1	3	2	2	1	2	3	rs141357150		TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr3:46492135G>T	ENST00000231751.4	-	7	1027	c.732C>A	c.(730-732)gaC>gaA	p.D244E	LTF_ENST00000417439.1_Missense_Mutation_p.D244E|LTF_ENST00000426532.2_Missense_Mutation_p.D200E	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	244	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		ACTCATACTCGTCCCTTTCAG	0.562																																						ENST00000231751.4																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(730-732)gaC>gaA		lactotransferrin	Pefloxacin(DB00487)						135	121	126					3																	46492135		2203	4296	6499	SO:0001583	missense	4057				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	g.chr3:46492135G>T		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.732C>A	3.37:g.46492135G>T	ENSP00000231751:p.Asp244Glu					LTF_ENST00000426532.2_Missense_Mutation_p.D200E|LTF_ENST00000417439.1_Missense_Mutation_p.D244E	p.D244E	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN		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)	7	1027	-			244			Transferrin-like 1.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.732C>A	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	G	6.625	0.483748	0.12581	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	4.9	-2.98	0.05513	.	0.612672	0.19196	N	0.120314	T	0.18759	0.0450	L	0.31476	0.935	0.09310	N	1	B;B;B	0.15719	0.014;0.004;0.014	B;B;B	0.22880	0.042;0.014;0.042	T	0.11616	-1.0580	10	0.56958	D	0.05	-0.7137	0.8816	0.01235	0.369:0.1099:0.2801:0.241	.	244;231;244	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	E	244;200;244;231	ENSP00000231751:D244E;ENSP00000405719:D200E;ENSP00000405546:D244E;ENSP00000397427:D231E	ENSP00000231751:D244E	D	-	3	2	LTF	46467139	0.031000	0.19500	0.000000	0.03702	0.002000	0.02628	0.562000	0.23531	-0.771000	0.04608	-0.736000	0.03550	GAC		0.562	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		62	79	1	0	4.96364e-44	1	5.63183e-44	62	79					T	46492135	G	T	46492135	3	4	465	1	0	0	0	0	1	0	0	0	9079	1136	40	5	1444	5	LTF	3	46492135	Missense_Mutation	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08		46492135	151530295	6	31484											
DCHS2	54798	broad.mit.edu	37	chr4	155253687	155253687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaggaaatataatagctGtccattctttccagagtcca	15	11	6	9	0	1	1	0	0	1	1	4	2	4	2	3	1	1	1	3	1	6	5			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr4:155253687G>T	ENST00000357232.4	-	9	2175	c.2176C>A	c.(2176-2178)Cag>Aag	p.Q726K	DCHS2_ENST00000339452.1_Missense_Mutation_p.Q1225K|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	726	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		TATAATAGCTGTCCATTCTTT	0.383																																						ENST00000357232.3																			0				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						c.(2176-2178)Cag>Aag		dachsous cadherin-related 2							99	107	104					4																	155253687		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155253687G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2176C>A	4.37:g.155253687G>T	ENSP00000349768:p.Gln726Lys					DCHS2_ENST00000339452.1_Missense_Mutation_p.Q1225K	p.Q726K	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	2175	-	all_hematologic(180;0.208)	Renal(120;0.0854)	726			Cadherin 6.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.2176C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752586	0.69533	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.60672	0.17;0.77	5.01	5.01	0.66863	Cadherin (3);Cadherin-like (1);	0.204955	0.32901	N	0.005513	T	0.61160	0.2325	N	0.21194	0.64	0.80722	D	1	D;P	0.62365	0.991;0.926	P;P	0.60609	0.877;0.448	T	0.58526	-0.7621	10	0.27785	T	0.31	.	18.6777	0.91534	0.0:0.0:1.0:0.0	.	1225;726	E9PC11;Q6V1P9	.;PCD23_HUMAN	K	726;1225;1225	ENSP00000349768:Q726K;ENSP00000345062:Q1225K	ENSP00000345062:Q1225K	Q	-	1	0	DCHS2	155473137	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.076000	0.71267	2.462000	0.83206	0.591000	0.81541	CAG		0.383	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		35	37	1	0	4.65686e-17	1	5.08805e-17	35	37					T	155253687	G	T	155253687	3	4	465	1	0	0	0	0	1	0	0	0	4288	1386	48	5	6738	5	DCHS2	4	155253687	Missense_Mutation	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08		155253687	35900589	7	31485											
ADAM29	11086	broad.mit.edu	37	chr4	175897169	175897169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattttcaaccatgagatccGgatttatgcaaaatgaaata	17	12	6	6	1	1	2	1	2	0	1	2	4	2	3	2	1	2	1	2	1	7	5	rs555477715		TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr4:175897169G>A	ENST00000359240.3	+	5	1163	c.493G>A	c.(493-495)Gga>Aga	p.G165R	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.G165R|ADAM29_ENST00000514159.1_Missense_Mutation_p.G165R|ADAM29_ENST00000445694.1_Missense_Mutation_p.G165R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	165					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G165R(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CATGAGATCCGGATTTATGCA	0.378													G|||	1	0.000199681	0	0	5008	,	,		19665	0		0	False		,,,				2504	0.001				Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			1	Substitution - Missense(1)	p.G165R(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(493-495)Gga>Aga		ADAM metallopeptidase domain 29							87	89	88					4																	175897169		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897169G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.493G>A	4.37:g.175897169G>A	ENSP00000352177:p.Gly165Arg					ADAM29_ENST00000404450.4_Missense_Mutation_p.G165R|ADAM29_ENST00000445694.1_Missense_Mutation_p.G165R|ADAM29_ENST00000514159.1_Missense_Mutation_p.G165R	p.G165R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		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)	5	1163	+		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)	165					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.493G>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687703	0.48097	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.02216	4.39;4.39;4.39;4.39	3.84	2.6	0.31112	.	0.469554	0.15310	U	0.269124	T	0.04272	0.0118	L	0.58510	1.815	0.09310	N	1	D	0.58970	0.984	P	0.49561	0.615	T	0.38023	-0.9680	9	.	.	.	.	5.8301	0.18577	0.205:0.0:0.795:0.0	.	165	Q9UKF5	ADA29_HUMAN	R	165	ENSP00000352177:G165R;ENSP00000414544:G165R;ENSP00000384229:G165R;ENSP00000423517:G165R	.	G	+	1	0	ADAM29	176133744	0.028000	0.19301	0.001000	0.08648	0.003000	0.03518	2.393000	0.44442	0.825000	0.34637	0.643000	0.83706	GGA		0.378	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				30	54	0	0	0	1	0	30	54					A	175897169	G	A	175897169	3	1	465	1	0	0	0	0	1	0	0	0	247	1117	39	2	495	2	ADAM29	4	175897169	Missense_Mutation	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08	20643482	175897169	15257107	8	31486											
PDZD2	23037	broad.mit.edu	37	chr5	32069683	32069683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgaaaatcaggtttccgaGcaggaaatggatgaagtcat	14	9	12	6	1	2	2	2	2	0	0	3	5	3	4	1	3	1	3	1	3	4	1			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr5:32069683G>T	ENST00000438447.1	+	15	2848	c.2460G>T	c.(2458-2460)gaG>gaT	p.E820D	PDZD2_ENST00000282493.3_Missense_Mutation_p.E820D			O15018	PDZD2_HUMAN	PDZ domain containing 2	820					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				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						AGGTTTCCGAGCAGGAAATGG	0.413																																						ENST00000438447.1																			0				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						c.(2458-2460)gaG>gaT		PDZ domain containing 2							93	85	88					5																	32069683		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32069683G>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2460G>T	5.37:g.32069683G>T	ENSP00000402033:p.Glu820Asp					PDZD2_ENST00000282493.3_Missense_Mutation_p.E820D	p.E820D			O15018	PDZD2_HUMAN			15	2848	+			820					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.2460G>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761780	0.69763	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.09723	2.95;2.95	5.86	2.55	0.30701	.	0.000000	0.49916	D	0.000125	T	0.17577	0.0422	L	0.34521	1.04	0.40178	D	0.97725	D;D	0.67145	0.996;0.982	D;P	0.64237	0.923;0.822	T	0.01386	-1.1368	10	0.62326	D	0.03	.	9.6066	0.39637	0.2893:0.0:0.7107:0.0	.	646;820	B4E3P2;O15018	.;PDZD2_HUMAN	D	820;624;820	ENSP00000402033:E820D;ENSP00000282493:E820D	ENSP00000282493:E820D	E	+	3	2	PDZD2	32105440	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.881000	0.28173	0.752000	0.32923	-0.150000	0.13652	GAG		0.413	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			5	35	1	0	0.184627	1	0.184627	5	35					T	32069683	G	T	32069683	3	4	465	1	0	0	0	0	1	0	0	0	11701	962	34	5	2514	5	PDZD2	5	32069683	Missense_Mutation	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08		32069683	148845577	9	31487											
COL19A1	1310	broad.mit.edu	37	chr6	70854121	70854121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggattgccaggagaacatgGtatcccaggaaaacaaggca	15	5	13	8	0	0	1	0	0	0	1	1	4	1	3	2	5	3	2	2	5	5	2			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr6:70854121G>A	ENST00000322773.4	+	24	1748	c.1646G>A	c.(1645-1647)gGt>gAt	p.G549D	COL19A1_ENST00000393344.1_Missense_Mutation_p.G171D	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	549	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGAGAACATGGTATCCCAGGA	0.358																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(1645-1647)gGt>gAt		collagen, type XIX, alpha 1							108	108	108					6																	70854121		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70854121G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1646G>A	6.37:g.70854121G>A	ENSP00000316030:p.Gly549Asp					COL19A1_ENST00000393344.1_Missense_Mutation_p.G171D	p.G549D	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			24	1748	+			549			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1646G>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028721	0.54790	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99619	-6.28;-6.28	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000001	D	0.99768	0.9905	H	0.94698	3.57	0.50813	D	0.99989	D	0.89917	1.0	D	0.87578	0.998	D	0.97244	0.9893	10	0.87932	D	0	.	17.0673	0.86562	0.0:0.0:1.0:0.0	.	549	Q14993	COJA1_HUMAN	D	549;171	ENSP00000316030:G549D;ENSP00000377013:G171D	ENSP00000316030:G549D	G	+	2	0	COL19A1	70910842	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.026000	0.76455	2.529000	0.85273	0.650000	0.86243	GGT		0.358	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			5	160	0	0	0	1	0	5	160					A	70854121	G	A	70854121	3	1	465	1	0	0	0	0	1	0	0	0	3676	1261	44	3	1736	3	COL19A1	6	70854121	Missense_Mutation	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08		70854121	100260946	10	31488											
SFRS13B	135295	broad.mit.edu	37	chr6	89814872	89814872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaccgcctcctatttcttcCccatgaagaacttctacttc	8	14	4	15	1	2	3	0	2	2	1	5	3	4	3	5	0	2	0	5	0	4	6			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr6:89814872C>T	ENST00000452027.2	-	4	575	c.382G>A	c.(382-384)Gga>Aga	p.G128R		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	128	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						CTATTTCTTCCCCATGAAGAA	0.383																																						ENST00000452027.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						c.(382-384)Gga>Aga		serine/arginine-rich splicing factor 12							71	60	64					6																	89814872		1820	4078	5898	SO:0001583	missense	135295				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	g.chr6:89814872C>T	AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	21220	protein-coding gene	gene with protein product	"splicing factor, arginine/serine-rich 19", "SR splicing factor 12"		"splicing factor, arginine/serine-rich 13B"	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.382G>A	6.37:g.89814872C>T	ENSP00000414302:p.Gly128Arg						p.G128R	NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN			4	575	-			128			Arg/Ser-rich (RS domain).		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	ENST00000452027.2	37	c.382G>A	CCDS47459.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612791	0.46631	.	.	ENSG00000154548	ENST00000452027	T	0.08546	3.08	5.11	5.11	0.69529	.	0.105570	0.41712	D	0.000827	T	0.06325	0.0163	L	0.43152	1.355	0.42033	D	0.991034	P	0.52316	0.952	P	0.52267	0.694	T	0.08411	-1.0723	10	0.05721	T	0.95	.	17.4736	0.87653	0.0:1.0:0.0:0.0	.	128	Q8WXF0	SRS12_HUMAN	R	128	ENSP00000414302:G128R	ENSP00000414302:G128R	G	-	1	0	SRSF12	89871591	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.538000	0.73852	2.660000	0.90430	0.650000	0.86243	GGA		0.383	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041474.2	NM_080743		4	11	0	0	0	1	0	4	11					T	89814872	C	T	89814872	3	4	465	1	0	0	0	0	1	0	0	0	14169	632	22	3	411	3	SFRS13B	6	89814872	Missense_Mutation	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08	18960751	89814872	81300195	11	31489											
EGFR	1956	broad.mit.edu	37	chr7	55268923	55268923	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagtcctacagactccaacTtctaccgtgccctgatggat	10	10	7	14	1	1	2	0	1	1	1	3	3	3	3	4	1	4	0	4	1	4	3			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr7:55268923T>G	ENST00000275493.2	+	25	3166	c.2989T>G	c.(2989-2991)Ttc>Gtc	p.F997V	EGFR_ENST00000455089.1_Missense_Mutation_p.F952V|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.F944V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	997					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			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)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGACTCCAACTTCTACCGTGC	0.522		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0				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						c.(2989-2991)Ttc>Gtc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						153	141	145					7																	55268923		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	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	g.chr7:55268923T>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2989T>G	7.37:g.55268923T>G	ENSP00000275493:p.Phe997Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.F944V|EGFR_ENST00000455089.1_Missense_Mutation_p.F952V|EGFR_ENST00000442591.1_Intron	p.F997V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		25	3166	+	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)		997					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2989T>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345726	0.82022	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.61274	0.12;0.12;0.12	5.65	5.65	0.86999	Protein kinase-like domain (1);	0.146590	0.64402	D	0.000007	T	0.68384	0.2995	M	0.86740	2.835	0.47778	D	0.999518	D;P	0.56035	0.974;0.613	P;B	0.49502	0.613;0.33	T	0.75107	-0.3434	10	0.72032	D	0.01	.	10.2829	0.43550	0.1473:0.0:0.0:0.8527	.	952;997	Q504U8;P00533	.;EGFR_HUMAN	V	952;867;997;944	ENSP00000415559:F952V;ENSP00000275493:F997V;ENSP00000395243:F944V	ENSP00000275493:F997V	F	+	1	0	EGFR	55236417	1.000000	0.71417	0.886000	0.34754	0.985000	0.73830	4.871000	0.63042	2.281000	0.76405	0.528000	0.53228	TTC		0.522	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		38	71	0	0	0	1	0	38	71					G	55268923	T	G	55268923	3	3	465	1	0	0	0	0	1	0	0	0	4967	1609	56	5	3351	5	EGFR	7	55268923	Missense_Mutation	SNP	T	TCGA-YL-A8SP-01B-11D-A377-08		55268923	103869740	12	31490											
MUC17	140453	broad.mit.edu	37	chr7	100701287	100701287	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatctctcttttcagatcCgaattcagaggcctcaggta	9	15	7	10	1	5	2	3	0	2	2	7	3	6	2	2	2	0	1	2	2	3	6	rs148704443		TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr7:100701287C>T	ENST00000306151.4	+	13	13508	c.13444C>T	c.(13444-13446)Cga>Tga	p.R4482*	RN7SKP54_ENST00000410704.1_RNA	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4482			R -> Q (in dbSNP:rs9656065).		cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTTTCAGATCCGAATTCAGAG	0.473																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(13444-13446)Cga>Tga		mucin 17, cell surface associated		C	stop/ARG	3,4403	6.2+/-15.9	0,3,2200	92	85	88		13444	2.6	0.4	7	dbSNP_134	88	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	MUC17	NM_001040105.1		0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384		4482/4494	100701287	5,13001	2203	4300	6503	SO:0001587	stop_gained	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100701287C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13444C>T	7.37:g.100701287C>T	ENSP00000302716:p.Arg4482*						p.R4482*	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			13	13508	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4482		R -> Q (in dbSNP:rs9656065).			O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	ENST00000306151.4	37	c.13444C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	54	21.693112	0.99942	6.81E-4	2.33E-4	ENSG00000169876	ENST00000306151	.	.	.	3.54	2.58	0.30949	.	.	.	.	.	.	.	.	.	.	.	0.34942	D	0.750437	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3491	0.26680	0.3672:0.6328:0.0:0.0	.	.	.	.	X	4482	.	ENSP00000302716:R4482X	R	+	1	2	MUC17	100488007	0.128000	0.22383	0.385000	0.26158	0.494000	0.33585	0.363000	0.20301	0.952000	0.37798	0.563000	0.77884	CGA		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		12	33	0	0	0	1	0	12	33					T	100701287	C	T	100701287	4	4	465	1	0	0	0	0	0	1	0	0	9974	644	23	2	13494	2	MUC17	7	100701287	Nonsense_Mutation	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08	45432364	100701287	58437376	13	31491											
ABRA	137735	broad.mit.edu	37	chr8	107782091	107782091	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgaccaccgttttggAcacctctttctttttgatgt	5	18	7	11	1	2	2	0	2	2	0	2	3	2	3	3	1	1	2	3	1	0	6			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr8:107782091A>G	ENST00000311955.3	-	1	382	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			ACCGTTTTGGACACCTCTTTC	0.562																																						ENST00000311955.3																			0				breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27						c.(328-330)Tcc>Ccc		actin-binding Rho activating protein							138	130	133					8																	107782091		2203	4300	6503	SO:0001583	missense	137735				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	g.chr8:107782091A>G	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.328T>C	8.37:g.107782091A>G	ENSP00000311436:p.Ser110Pro						p.S110P	NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	382	-			110						Missense_Mutation	SNP	ENST00000311955.3	37	c.328T>C	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.001695	0.35320	.	.	ENSG00000174429	ENST00000311955	D	0.92965	-3.14	6.07	2.26	0.28386	.	0.458019	0.27172	N	0.020596	T	0.77678	0.4166	N	0.03608	-0.345	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.67405	-0.5679	10	0.49607	T	0.09	-14.0694	4.4314	0.11529	0.1121:0.063:0.2251:0.5998	.	110	Q8N0Z2	ABRA_HUMAN	P	110	ENSP00000311436:S110P	ENSP00000311436:S110P	S	-	1	0	ABRA	107851267	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.434000	0.34958	0.543000	0.28864	-0.275000	0.10095	TCC		0.562	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		5	61	0	0	0	1	0	5	61					G	107782091	A	G	107782091	3	3	465	1	0	0	0	0	1	0	0	0	100	275	10	4	825	4	ABRA	8	107782091	Missense_Mutation	SNP	A	TCGA-YL-A8SP-01B-11D-A377-08		107782091	38581931	14	31492											
TLE1	7088	broad.mit.edu	37	chr9	84205796	84205796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagaagcagaccttggaatCggggctgatggccagggcgt	9	7	17	8	2	0	3	0	2	0	2	1	5	0	4	2	5	1	2	2	5	2	1			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr9:84205796C>T	ENST00000376499.3	-	16	2817	c.1753G>A	c.(1753-1755)Gat>Aat	p.D585N		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	585					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ACCTTGGAATCGGGGCTGATG	0.607																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1753-1755)Gat>Aat		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							80	78	79					9																	84205796		2203	4300	6503	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84205796C>T		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1753G>A	9.37:g.84205796C>T	ENSP00000365682:p.Asp585Asn						p.D585N	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			16	2817	-			585					A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.1753G>A	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	c	37	6.053339	0.97241	.	.	ENSG00000196781	ENST00000376499	T	0.14391	2.51	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.39292	-0.9621	10	0.87932	D	0	-27.4732	20.422	0.99049	0.0:1.0:0.0:0.0	.	570;611;585	B4DEF9;Q59EF7;Q04724	.;.;TLE1_HUMAN	N	585	ENSP00000365682:D585N	ENSP00000365682:D585N	D	-	1	0	TLE1	83395616	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GAT		0.607	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		40	50	0	0	0	1	0	40	50					T	84205796	C	T	84205796	3	4	465	1	0	0	0	0	1	0	0	0	15935	884	31	2	579	2	TLE1	9	84205796	Missense_Mutation	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08		84205796	57007635	15	31493											
SORCS1	114815	broad.mit.edu	37	chr10	108469017	108469017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctgaacaatcaaagaGtctgggtcaatgtagcctgg	12	10	11	8	0	3	3	2	2	1	1	4	3	4	3	2	2	2	1	2	2	5	1			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr10:108469017G>T	ENST00000263054.6	-	7	1114	c.1107C>A	c.(1105-1107)gaC>gaA	p.D369E	SORCS1_ENST00000344440.6_Missense_Mutation_p.D369E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	369					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			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)		CAATCAAAGAGTCTGGGTCAA	0.388																																						ENST00000263054.6																			0				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						c.(1105-1107)gaC>gaA		sortilin-related VPS10 domain containing receptor 1							120	111	114					10																	108469017		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108469017G>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1107C>A	10.37:g.108469017G>T	ENSP00000263054:p.Asp369Glu					SORCS1_ENST00000344440.6_Missense_Mutation_p.D369E	p.D369E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	7	1114	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	369					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1107C>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724427	0.48728	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.30981	1.51;1.51	5.71	-1.29	0.09288	VPS10 (1);	0.111830	0.64402	D	0.000007	T	0.20536	0.0494	N	0.24115	0.695	0.32051	N	0.596951	B;B;B;B;B	0.31705	0.113;0.114;0.336;0.227;0.336	B;B;B;B;B	0.38225	0.041;0.122;0.205;0.138;0.268	T	0.27872	-1.0061	9	.	.	.	-26.8843	12.077	0.53649	0.3982:0.0:0.6018:0.0	.	369;369;369;369;369	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	E	369	ENSP00000263054:D369E;ENSP00000345964:D369E	.	D	-	3	2	SORCS1	108459007	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	1.101000	0.31037	-0.123000	0.11745	-0.136000	0.14681	GAC		0.388	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		30	49	1	0	3.99451e-17	1	4.44672e-17	30	49					T	108469017	G	T	108469017	3	4	465	1	0	0	0	0	1	0	0	0	14930	1020	36	5	2713	5	SORCS1	10	108469017	Missense_Mutation	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08		108469017	27065730	16	31494											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955897	18955897	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagggacagggcccagagCaggacacacaccaccgctga	13	1	13	14	1	0	2	0	1	0	1	0	4	0	4	3	3	2	3	3	3	0	0			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr11:18955897C>G	ENST00000302797.3	-	1	659	c.435G>C	c.(433-435)ctG>ctC	p.L145L	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	145					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGGCCCAGAGCAGGACACACA	0.597																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(433-435)ctG>ctC		MAS-related GPR, member X1							97	81	86					11																	18955897		2194	4286	6480	SO:0001819	synonymous_variant	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955897C>G		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.435G>C	11.37:g.18955897C>G						MRGPRX1_ENST00000526914.1_5'UTR	p.L145L	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	659	-			145					Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	c.435G>C	CCDS7846.1																																																																																				0.597	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		28	25	0	0	0	1	0	28	25					G	18955897	C	G	18955897	2	3	465	1	0	0	0	0	0	0	0	1	9766	697	25	5		5	MRGPRX1	11	18955897	Silent	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08		18955897	116050619	17	31495											
MTCH2	23788	broad.mit.edu	37	chr11	47660327	47660327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagcctgtgaacaacccgCgcctcccatcgatactggca	10	8	8	15	3	0	1	0	1	0	0	2	2	1	1	4	1	4	1	4	1	4	2	rs140836301	byFrequency	TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr11:47660327C>T	ENST00000302503.3	-	3	360	c.203G>A	c.(202-204)cGc>cAc	p.R68H	MTCH2_ENST00000542981.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	68			R -> S (in dbSNP:rs34072236).		protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GAACAACCCGCGCCTCCCATC	0.423													C|||	14	0.00279553	0.0091	0	5008	,	,		16403	0		0	False		,,,				2504	0.002					ENST00000302503.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(202-204)cGc>cAc		mitochondrial carrier 2		C	HIS/ARG	28,4374	34.3+/-65.2	0,28,2173	68	62	64		203	4.1	1	11	dbSNP_134	64	0,8596		0,0,4298	yes	missense	MTCH2	NM_014342.3	29	0,28,6471	TT,TC,CC		0.0,0.6361,0.2154	benign	68/304	47660327	28,12970	2201	4298	6499	SO:0001583	missense	23788				transport	integral to membrane|mitochondrial inner membrane		g.chr11:47660327C>T	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"Solute carriers"	17587	protein-coding gene	gene with protein product	"solute carrier family 25, member 50"	613221	"mitochondrial carrier homolog 2 (C. elegans)"				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.203G>A	11.37:g.47660327C>T	ENSP00000303222:p.Arg68His					MTCH2_ENST00000542981.1_5'UTR	p.R68H	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN			3	360	-			68		R -> S (in dbSNP:rs34072236).			B2R7L8	Missense_Mutation	SNP	ENST00000302503.3	37	c.203G>A	CCDS7943.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	C	10.21	1.288109	0.23478	0.006361	0.0	ENSG00000109919	ENST00000302503;ENST00000530428;ENST00000530558	T;T	0.80824	-1.42;-1.42	4.99	4.06	0.47325	Mitochondrial carrier domain (2);	0.633514	0.17558	N	0.169901	T	0.53029	0.1771	L	0.34521	1.04	0.80722	D	1	B	0.14012	0.009	B	0.08055	0.003	T	0.58918	-0.7551	10	0.31617	T	0.26	.	8.4175	0.32681	0.0:0.7534:0.1593:0.0873	.	68	Q9Y6C9	MTCH2_HUMAN	H	68;68;47	ENSP00000303222:R68H;ENSP00000432043:R68H	ENSP00000303222:R68H	R	-	2	0	MTCH2	47616903	0.972000	0.33761	1.000000	0.80357	0.938000	0.57974	2.307000	0.43682	2.464000	0.83262	0.561000	0.74099	CGC		0.423	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		23	22	0	0	0	1	0	23	22					T	47660327	C	T	47660327	3	4	465	1	0	0	0	0	1	0	0	0	9914	768	27	1	752	1	MTCH2	11	47660327	Missense_Mutation	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08	28704430	47660327	87346189	18	31496											
OR6C3	254786	broad.mit.edu	37	chr12	55725832	55725832	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacattttaactgccatgtcCtatgaccgctatgttgccat	9	15	6	11	1	0	1	0	1	0	0	1	1	1	1	4	0	4	2	4	0	4	6			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr12:55725832C>T	ENST00000379667.1	+	1	348	c.348C>T	c.(346-348)tcC>tcT	p.S116S		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	116					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						CTGCCATGTCCTATGACCGCT	0.438																																						ENST00000379667.1																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(346-348)tcC>tcT		olfactory receptor, family 6, subfamily C, member 3							139	130	133					12																	55725832		2203	4300	6503	SO:0001819	synonymous_variant	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55725832C>T	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"GPCR / Class A : Olfactory receptors"	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.348C>T	12.37:g.55725832C>T							p.S116S	NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN			1	348	+			116						Silent	SNP	ENST00000379667.1	37	c.348C>T	CCDS31819.1																																																																																				0.438	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			53	74	0	0	0	1	0	53	74					T	55725832	C	T	55725832	2	4	465	1	0	0	0	0	0	0	0	1	11192	668	24	3		3	OR6C3	12	55725832	Silent	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08		55725832	78126063	19	31497											
C13orf33	84935	broad.mit.edu	37	chr13	31498491	31498491	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatctgtcacccagatcAtctctgacagagcctctttt	9	13	6	13	0	5	3	2	1	3	2	6	3	5	3	2	0	2	1	2	0	1	2			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr13:31498491A>T	ENST00000380482.4	+	5	1156	c.831A>T	c.(829-831)tcA>tcT	p.S277S	TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000592950.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	277					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)		p.S277S(1)									CACCCAGATCATCTCTGACAG	0.363																																						ENST00000380482.4																			1	Substitution - coding silent(1)	p.S277S(1)	lung(1)								c.(829-831)tcA>tcT		mesenteric estrogen-dependent adipogenesis							135	131	133					13																	31498491		2203	4300	6503	SO:0001819	synonymous_variant	84935							g.chr13:31498491A>T	AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"mesenteric estrogen-dependent adipose 4", "activated in W/Wv mouse stomach 3 homolog"		"chromosome 13 open reading frame 33"	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.831A>T	13.37:g.31498491A>T						TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000586973.1_RNA	p.S277S	NM_032849.3	NP_116238.2					5	1156	+								Q8IXF1|Q96K26|Q96NC8	Silent	SNP	ENST00000380482.4	37	c.831A>T	CCDS9338.1																																																																																				0.363	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044375.1	NM_032849		31	52	0	0	0	1	0	31	52					T	31498491	A	T	31498491	2	4	465	1	0	0	0	0	0	0	0	1	1727	204	8	5		5	C13orf33	13	31498491	Silent	SNP	A	TCGA-YL-A8SP-01B-11D-A377-08		31498491	83671387	20	31498											
KIAA0564	23078	broad.mit.edu	37	chr13	42267091	42267091	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccggccagtagtatctaaCaacaggataacattactctg	13	9	8	11	1	2	0	0	0	2	0	2	1	2	1	2	2	4	2	2	2	6	5			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr13:42267091C>A	ENST00000379310.3	-	30	3650	c.3582G>T	c.(3580-3582)ttG>ttT	p.L1194F	VWA8_ENST00000478987.1_5'UTR	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1194						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TAGTATCTAACAACAGGATAA	0.383																																						ENST00000379310.3																			0											c.(3580-3582)ttG>ttT		von Willebrand factor A domain containing 8							63	58	60					13																	42267091		1819	4069	5888	SO:0001583	missense	23078							g.chr13:42267091C>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3582G>T	13.37:g.42267091C>A	ENSP00000368612:p.Leu1194Phe					VWA8_ENST00000478987.1_5'UTR	p.L1194F	NM_015058.1	NP_055873.1					30	3650	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.3582G>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966616	0.34659	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.11277	2.79	5.76	3.1	0.35709	.	0.093185	0.45361	D	0.000371	T	0.21186	0.0510	M	0.61703	1.905	0.80722	D	1	D	0.57899	0.981	P	0.55161	0.77	T	0.00359	-1.1791	10	0.59425	D	0.04	.	10.5111	0.44862	0.0:0.787:0.0:0.213	.	1194	A3KMH1	K0564_HUMAN	F	1098;1194	ENSP00000368612:L1194F	ENSP00000251030:L1098F	L	-	3	2	KIAA0564	41165091	0.921000	0.31238	0.499000	0.27577	0.536000	0.34869	0.531000	0.23052	0.356000	0.24157	0.655000	0.94253	TTG		0.383	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		10	23	1	0	2.74318e-10	1	2.89014e-10	10	23					A	42267091	C	A	42267091	3	1	465	1	0	0	0	0	1	0	0	0	8185	477	17	5	2199	5	KIAA0564	13	42267091	Missense_Mutation	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08	10768600	42267091	72902787	21	31499											
POTEG	404785	broad.mit.edu	37	chr14	19553754	19553754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccctgctgcagggggagcgGcaagagcaaagtgggccctt	8	5	16	12	1	0	1	0	0	0	1	0	2	0	2	3	4	4	4	3	4	2	1			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr14:19553754G>A	ENST00000409832.3	+	1	390	c.338G>A	c.(337-339)gGc>gAc	p.G113D		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	113										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGGGGGAGCGGCAAGAGCAAA	0.597																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(337-339)gGc>gAc		POTE ankyrin domain family, member G							348	379	369					14																	19553754		2201	4298	6499	SO:0001583	missense	404785							g.chr14:19553754G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.338G>A	14.37:g.19553754G>A	ENSP00000386971:p.Gly113Asp						p.G113D	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	390	+			113					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.338G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	6.591	0.477486	0.12521	.	.	ENSG00000222036	ENST00000409832	T	0.28895	1.59	0.604	0.604	0.17547	.	.	.	.	.	T	0.30727	0.0774	L	0.58101	1.795	0.09310	N	1	P	0.43938	0.822	B	0.43575	0.424	T	0.16867	-1.0388	8	0.59425	D	0.04	.	.	.	.	.	113	Q6S5H5	POTEG_HUMAN	D	113	ENSP00000386971:G113D	ENSP00000386971:G113D	G	+	2	0	POTEG	18623754	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	0.607000	0.24209	0.571000	0.29365	0.416000	0.27883	GGC		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		7	845	0	0	0	1	0	7	845					A	19553754	G	A	19553754	3	1	465	1	0	0	0	0	1	0	0	0	12266	1203	42	3	340	3	POTEG	14	19553754	Missense_Mutation	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08		19553754	87795786	22	31500											
KCNJ16	3773	broad.mit.edu	37	chr17	68129031	68129031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctctgtatgcccttgaccGcaaagcagtagccaaagata	12	8	8	13	1	1	2	0	1	1	1	1	2	1	2	4	0	3	4	4	0	5	4	rs200564862		TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr17:68129031G>A	ENST00000589377.1	+	2	966	c.803G>A	c.(802-804)cGc>cAc	p.R268H	KCNJ16_ENST00000392670.1_Missense_Mutation_p.R268H|KCNJ16_ENST00000586462.1_Missense_Mutation_p.R307H|KCNJ16_ENST00000283936.1_Missense_Mutation_p.R268H|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R268H|KCNJ16_ENST00000585558.1_Missense_Mutation_p.R303H	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	268					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GCCCTTGACCGCAAAGCAGTA	0.428																																						ENST00000585558.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(907-909)cGc>cAc		potassium inwardly-rectifying channel, subfamily J, member 16		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	138	134	135		803,803,803	6	1	17		135	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	KCNJ16	NM_018658.1,NM_170741.1,NM_170742.1	29,29,29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	268/419,268/419,268/419	68129031	1,13001	2203	4298	6501	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68129031G>A	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.803G>A	17.37:g.68129031G>A	ENSP00000465967:p.Arg268His					KCNJ16_ENST00000283936.1_Missense_Mutation_p.R268H|KCNJ16_ENST00000586462.1_Missense_Mutation_p.R307H|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R268H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R268H|KCNJ16_ENST00000589377.1_Missense_Mutation_p.R268H	p.R303H			Q9NPI9	IRK16_HUMAN			4	1296	+	Breast(10;2.96e-09)		268						Missense_Mutation	SNP	ENST00000589377.1	37	c.908G>A	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.734643	0.48939	0.0	1.16E-4	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.94184	-3.37;-3.37;-3.37	5.96	5.96	0.96718	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.120010	0.56097	D	0.000029	D	0.95417	0.8512	L	0.52573	1.65	0.43218	D	0.995095	D;D	0.89917	1.0;0.994	D;P	0.64506	0.926;0.664	D	0.94147	0.7402	9	.	.	.	.	19.9993	0.97404	0.0:0.0:1.0:0.0	.	268;268	A8K434;Q9NPI9	.;IRK16_HUMAN	H	268	ENSP00000283936:R268H;ENSP00000376439:R268H;ENSP00000376438:R268H	.	R	+	2	0	KCNJ16	65640626	0.536000	0.26378	0.985000	0.45067	0.056000	0.15407	3.645000	0.54389	2.823000	0.97156	0.650000	0.86243	CGC		0.428	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		4	180	0	0	0	1	0	4	180					A	68129031	G	A	68129031	3	1	465	1	0	0	0	0	1	0	0	0	8050	1087	38	1	805	1	KCNJ16	17	68129031	Missense_Mutation	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08		68129031	13066179	23	31501											
NUP85	79902	broad.mit.edu	37	chr17	73229024	73229024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctctcttggagcatccGtgctaaggatgccgcctttg	5	12	11	13	2	1	0	0	0	1	0	3	2	2	2	4	2	4	2	4	2	1	3	rs545929051	byFrequency	TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr17:73229024G>A	ENST00000245544.4	+	15	1546	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H	NUP85_ENST00000447371.2_Missense_Mutation_p.R324H|NUP85_ENST00000579298.1_Missense_Mutation_p.R447H|NUP85_ENST00000540768.1_Missense_Mutation_p.R95H|NUP85_ENST00000579324.1_Missense_Mutation_p.R380H|NUP85_ENST00000541827.1_Missense_Mutation_p.R446H	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	492					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TGGAGCATCCGTGCTAAGGAT	0.567													G|||	2	0.000399361	0	0	5008	,	,		20333	0		0	False		,,,				2504	0.002					ENST00000447371.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(970-972)cGt>cAt		nucleoporin 85kDa							124	120	122					17																	73229024		2203	4300	6503	SO:0001583	missense	79902				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	g.chr17:73229024G>A	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1475G>A	17.37:g.73229024G>A	ENSP00000245544:p.Arg492His					NUP85_ENST00000540768.1_Missense_Mutation_p.R95H|NUP85_ENST00000541827.1_Missense_Mutation_p.R446H|NUP85_ENST00000245544.4_Missense_Mutation_p.R492H|NUP85_ENST00000579298.1_Missense_Mutation_p.R447H|NUP85_ENST00000579324.1_Missense_Mutation_p.R380H	p.R324H			Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		14	1395	+	all_lung(278;0.14)|Lung NSC(278;0.168)		492					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.971G>A	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389179	0.61956	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000447371;ENST00000540768	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.83862	0.5346	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.85678	0.1299	9	0.62326	D	0.03	-11.6059	19.0648	0.93106	0.0:0.0:1.0:0.0	.	446;492	B4DMQ3;Q9BW27	.;NUP85_HUMAN	H	492;446;324;95	.	ENSP00000245544:R492H	R	+	2	0	NUP85	70740619	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.203000	0.95033	2.509000	0.84616	0.561000	0.74099	CGT		0.567	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		8	74	0	0	0	1	0	8	74					A	73229024	G	A	73229024	3	1	465	1	0	0	0	0	1	0	0	0	10770	1145	40	1	1533	1	NUP85	17	73229024	Missense_Mutation	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08	5099993	73229024	7966186	24	31502											
KDM4B	23030	broad.mit.edu	37	chr19	5039897	5039897	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacgtatgatgacatcgaCgacgtggtgatcccggcgcc	9	7	13	12	6	0	4	0	3	0	1	2	6	1	4	2	2	0	1	2	2	1	1			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr19:5039897C>T	ENST00000159111.4	+	4	410	c.192C>T	c.(190-192)gaC>gaT	p.D64D	KDM4B_ENST00000381759.4_Silent_p.D64D|KDM4B_ENST00000536461.1_Silent_p.D64D	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	64					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATGACATCGACGACGTGGTGA	0.612																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(190-192)gaC>gaT		lysine (K)-specific demethylase 4B							79	76	77					19																	5039897		2203	4300	6503	SO:0001819	synonymous_variant	23030				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	g.chr19:5039897C>T	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.192C>T	19.37:g.5039897C>T						KDM4B_ENST00000536461.1_Silent_p.D64D|KDM4B_ENST00000381759.4_Silent_p.D64D	p.D64D	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			4	410	+			64					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	c.192C>T	CCDS12138.1																																																																																				0.612	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		23	56	0	0	0	1	0	23	56					T	5039897	C	T	5039897	2	4	465	1	0	0	0	0	0	0	0	1	8129	535	19	1		1	KDM4B	19	5039897	Silent	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08		5039897	54089086	25	31503											
ZNF676	163223	broad.mit.edu	37	chr19	22363305	22363305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatgttccatgagctttgagGatgagttggaagctttgcca	9	14	12	6	0	0	3	0	3	0	0	1	5	1	5	2	2	3	4	2	2	2	5			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr19:22363305G>A	ENST00000397121.2	-	3	1531	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GAGCTTTGAGGATGAGTTGGA	0.423																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1213-1215)tCc>tTc		zinc finger protein 676							79	82	81					19																	22363305		2140	4267	6407	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363305G>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1214C>T	19.37:g.22363305G>A	ENSP00000380310:p.Ser405Phe						p.S405F	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1531	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	405					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1214C>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.100	-1.153144	0.01700	.	.	ENSG00000196109	ENST00000397121	T	0.08008	3.14	0.81	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17746	0.0426	M	0.79011	2.435	0.09310	N	1	D	0.71674	0.998	P	0.59889	0.865	T	0.07849	-1.0751	9	0.36615	T	0.2	.	3.2543	0.06826	0.0:0.5087:0.2813:0.21	.	405	Q8N7Q3	ZN676_HUMAN	F	405	ENSP00000380310:S405F	ENSP00000380310:S405F	S	-	2	0	ZNF676	22155145	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.822000	0.00748	-1.275000	0.02417	-1.271000	0.01417	TCC		0.423	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		50	73	0	0	0	1	0	50	73					A	22363305	G	A	22363305	3	1	465	1	0	0	0	0	1	0	0	0	18080	1174	41	3	556	3	ZNF676	19	22363305	Missense_Mutation	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08	17323408	22363305	36765678	26	31504											
TGFB1	7040	broad.mit.edu	37	chr19	41838078	41838078	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaatgtaggggcagggcccGaggcagaagttggcatggta	11	6	17	7	1	0	1	0	0	0	1	0	2	0	1	1	6	0	6	1	6	4	3			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr19:41838078G>A	ENST00000221930.5	-	6	1835	c.969C>T	c.(967-969)ctC>ctT	p.L323L		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	323					active induction of host immune response by virus (GO:0046732)|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002460)|aging (GO:0007568)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|branch elongation involved in mammary gland duct branching (GO:0060751)|cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|cellular calcium ion homeostasis (GO:0006874)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation (GO:0002062)|common-partner SMAD protein phosphorylation (GO:0007182)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|defense response to fungus, incompatible interaction (GO:0009817)|digestive tract development (GO:0048565)|embryo development (GO:0009790)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|evasion or tolerance of host defenses by virus (GO:0019049)|extracellular matrix assembly (GO:0085029)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|germ cell migration (GO:0008354)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymph node development (GO:0048535)|macrophage derived foam cell differentiation (GO:0010742)|mammary gland branching involved in thelarche (GO:0060744)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|modulation by virus of host morphology or physiology (GO:0019048)|mononuclear cell proliferation (GO:0032943)|myelination (GO:0042552)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA replication (GO:0008156)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of ossification (GO:0030279)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|ossification involved in bone remodeling (GO:0043932)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|phosphate-containing compound metabolic process (GO:0006796)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NAD+ ADP-ribosyltransferase activity (GO:1901666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of odontogenesis (GO:0042482)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein export from nucleus (GO:0006611)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|receptor catabolic process (GO:0032801)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of binding (GO:0051098)|regulation of blood vessel remodeling (GO:0060312)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of cartilage development (GO:0061035)|regulation of cell migration (GO:0030334)|regulation of DNA binding (GO:0051101)|regulation of miRNA metabolic process (GO:2000628)|regulation of protein import into nucleus (GO:0042306)|regulation of sodium ion transport (GO:0002028)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulatory T cell differentiation (GO:0045066)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|response to radiation (GO:0009314)|response to vitamin D (GO:0033280)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|T cell homeostasis (GO:0043029)|tolerance induction to self antigen (GO:0002513)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|viral life cycle (GO:0019058)	axon (GO:0030424)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	antigen binding (GO:0003823)|cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	GGCAGGGCCCGAGGCAGAAGT	0.622																																						ENST00000221930.5																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(967-969)ctC>ctT		transforming growth factor, beta 1	Hyaluronidase(DB00070)						80	72	75					19																	41838078		2203	4300	6503	SO:0001819	synonymous_variant	7040				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	g.chr19:41838078G>A	X02812	CCDS33031.1	19q13.1	2014-01-30	2007-02-16			ENSG00000105329		"Endogenous ligands"	11766	protein-coding gene	gene with protein product	"Camurati-Engelmann disease", "prepro-transforming growth factor beta-1"	190180		TGFB, DPD1		10631145, 10843814	Standard	NM_000660		Approved	CED, TGFbeta	uc002oqh.2	P01137		ENST00000221930.5:c.969C>T	19.37:g.41838078G>A							p.L323L	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN			6	1835	-			323					A8K792|Q9UCG4	Silent	SNP	ENST00000221930.5	37	c.969C>T	CCDS33031.1																																																																																				0.622	TGFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463500.2			5	41	0	0	0	1	0	5	41					A	41838078	G	A	41838078	2	1	465	1	0	0	0	0	0	0	0	1	15813	1045	37	2		2	TGFB1	19	41838078	Silent	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08	19474773	41838078	17290905	27	31505											
ZNF285	26974	broad.mit.edu	37	chr19	44891010	44891010	+	Frame_Shift_Del	DEL	G	G	-																															tgtgaagaacagagctatacGcaaaatcctttccacacaca																								rs150792548	byFrequency	TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr19:44891010delG	ENST00000330997.4	-	4	1461	c.1397delC	c.(1396-1398)gcgfs	p.A466fs	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Frame_Shift_Del_p.A466fs|ZNF285_ENST00000591679.1_Frame_Shift_Del_p.A473fs	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A466G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AGAGCTATACGCAAAATCCTT	0.418																																						ENST00000330997.4																			1	Substitution - Missense(1)	p.A466G(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1396-1398)ggfs		zinc finger protein 285							83	84	83					19																	44891010		2203	4300	6503	SO:0001589	frameshift_variant	26974							g.chr19:44891010delG	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1397delC	19.37:g.44891010delG	ENSP00000333595:p.Ala466fs					ZNF285_ENST00000544719.2_Frame_Shift_Del_p.A466fs|ZNF285_ENST00000591679.1_Frame_Shift_Del_p.A473fs|CTC-512J12.6_ENST00000588212.1_Intron	p.A466fs	NM_152354.3	NP_689567.3					4	1461	-								Q17RJ3|Q6B0A8|Q6ISR5	Frame_Shift_Del	DEL	ENST00000330997.4	37	c.1397delC	CCDS12638.1																																																																																				0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		8	79						8	79	---	---	---	---	-	44891010	G	-	44891010	7	5	465	1	0	1	0	1	0	0	0	0	17819	1087	38	0	379	0	ZNF285	19	44891010	Frame_Shift_Del	DEL	G	TCGA-YL-A8SP-01B-11D-A377-08	3052932	44891010	14237973	28	31506											
PAK7	57144	broad.mit.edu	37	chr20	9538335	9538335	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttatgaaggtaggagagagCtctcagaactgacaggcaga	14	7	14	6	0	1	5	1	2	1	3	2	7	1	6	0	3	2	4	0	3	4	2	rs34102290	byFrequency	TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr20:9538335C>G	ENST00000378429.3	-	8	2209	c.1663G>C	c.(1663-1665)Gct>Cct	p.A555P	PAK7_ENST00000378423.1_Missense_Mutation_p.A555P|PAK7_ENST00000353224.5_Missense_Mutation_p.A555P	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	555	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> S (in dbSNP:rs34102290). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TAGGAGAGAGCTCTCAGAACT	0.423																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1663-1665)Gct>Cct		p21 protein (Cdc42/Rac)-activated kinase 7							142	122	129					20																	9538335		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9538335C>G	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1663G>C	20.37:g.9538335C>G	ENSP00000367686:p.Ala555Pro					PAK7_ENST00000378423.1_Missense_Mutation_p.A555P|PAK7_ENST00000353224.5_Missense_Mutation_p.A555P	p.A555P	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		8	2209	-			555		A -> S (in dbSNP:rs34102290).	Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1663G>C	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241844	0.95272	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.26223	1.75;1.75;1.75	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	H	0.96633	3.855	0.80722	D	1	D;D	0.56746	0.977;0.977	P;P	0.57776	0.827;0.827	T	0.77172	-0.2685	9	.	.	.	.	19.8171	0.96573	0.0:1.0:0.0:0.0	.	555;555	B0AZM9;Q9P286	.;PAK7_HUMAN	P	555;555;555;503	ENSP00000367686:A555P;ENSP00000322957:A555P;ENSP00000367679:A555P	.	A	-	1	0	PAK7	9486335	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.678000	0.91216	0.643000	0.83706	GCT		0.423	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			29	47	0	0	0	1	0	29	47					G	9538335	C	G	9538335	3	3	465	1	0	0	0	0	1	0	0	0	11405	797	28	5	512	5	PAK7	20	9538335	Missense_Mutation	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08		9538335	53487185	29	31507											
SERINC3	10955	broad.mit.edu	37	chr20	43142587	43142587	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgacagtgctcaggaggagaAtgaaagcataaatgaggcga	16	5	14	6	2	1	3	1	2	0	1	1	7	1	4	0	3	2	2	0	3	4	1			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr20:43142587A>C	ENST00000342374.4	-	2	291	c.134T>G	c.(133-135)aTt>aGt	p.I45S	SERINC3_ENST00000468234.1_5'UTR|SERINC3_ENST00000255175.1_Missense_Mutation_p.I45S|SERINC3_ENST00000541235.1_5'UTR	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	45					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CAGGAGGAGAATGAAAGCATA	0.448																																						ENST00000342374.4																			0				endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18						c.(133-135)aTt>aGt		serine incorporator 3							202	175	184					20																	43142587		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43142587A>C	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"tumor differentially expressed 1"	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.134T>G	20.37:g.43142587A>C	ENSP00000340243:p.Ile45Ser					SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000255175.1_Missense_Mutation_p.I45S|SERINC3_ENST00000468234.1_5'UTR	p.I45S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		2	291	-		Myeloproliferative disorder(115;0.0122)	45					B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.134T>G	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.321000	0.60634	.	.	ENSG00000132824	ENST00000255175;ENST00000342374;ENST00000538937	T;T	0.16743	2.32;2.32	5.34	5.34	0.76211	.	0.105399	0.64402	D	0.000004	T	0.47248	0.1435	M	0.88450	2.955	0.80722	D	1	P;D	0.57899	0.736;0.981	P;D	0.64877	0.718;0.93	T	0.55611	-0.8114	10	0.56958	D	0.05	.	15.612	0.76733	1.0:0.0:0.0:0.0	.	45;45	Q53GK8;Q13530	.;SERC3_HUMAN	S	45;45;12	ENSP00000255175:I45S;ENSP00000340243:I45S	ENSP00000255175:I45S	I	-	2	0	SERINC3	42576001	1.000000	0.71417	0.700000	0.30305	0.260000	0.26232	7.228000	0.78079	2.131000	0.65755	0.460000	0.39030	ATT		0.448	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		30	49	0	0	0	1	0	30	49					C	43142587	A	C	43142587	3	2	465	1	0	0	0	0	1	0	0	0	14081	101	4	5	1323	5	SERINC3	20	43142587	Missense_Mutation	SNP	A	TCGA-YL-A8SP-01B-11D-A377-08	33604252	43142587	19882933	30	31508											
ABCG1	9619	broad.mit.edu	37	chr21	43706090	43706090	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaactgcccaacctaccacaAcccagcagattttggtaagc	13	7	7	14	0	0	1	0	0	0	1	0	2	0	1	4	1	7	2	4	1	5	4			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr21:43706090A>G	ENST00000361802.2	+	8	1104	c.959A>G	c.(958-960)aAc>aGc	p.N320S	ABCG1_ENST00000347800.2_Missense_Mutation_p.N317S|ABCG1_ENST00000343687.3_Missense_Mutation_p.N331S|ABCG1_ENST00000398449.3_Missense_Mutation_p.N320S|ABCG1_ENST00000398437.1_Missense_Mutation_p.N466S|ABCG1_ENST00000340588.4_Missense_Mutation_p.N428S|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Missense_Mutation_p.N322S	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	320					amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	ACCTACCACAACCCAGCAGAT	0.517																																						ENST00000398437.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(1396-1398)aAc>aGc		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						155	155	155					21																	43706090		2203	4300	6503	SO:0001583	missense	9619				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	g.chr21:43706090A>G	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.959A>G	21.37:g.43706090A>G	ENSP00000354995:p.Asn320Ser					ABCG1_ENST00000398457.2_Missense_Mutation_p.N322S|ABCG1_ENST00000347800.2_Missense_Mutation_p.N317S|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000340588.4_Missense_Mutation_p.N428S|ABCG1_ENST00000361802.2_Missense_Mutation_p.N320S|ABCG1_ENST00000398449.3_Missense_Mutation_p.N320S|ABCG1_ENST00000343687.3_Missense_Mutation_p.N331S	p.N466S			P45844	ABCG1_HUMAN			9	1545	+			320			ABC transmembrane type-2.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.1397A>G	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147348	0.77888	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.73218	0.3559	L	0.58302	1.8	0.80722	D	1	D;D;D;D;D;D	0.69078	0.995;0.994;0.974;0.997;0.995;0.996	P;D;P;D;D;D	0.70935	0.831;0.919;0.562;0.96;0.957;0.971	T	0.73442	-0.3981	9	.	.	.	-44.5327	13.2719	0.60165	1.0:0.0:0.0:0.0	.	331;331;320;320;317;322	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	S	322;317;320;320;331;466;428	ENSP00000381475:N322S;ENSP00000291524:N317S;ENSP00000381467:N320S;ENSP00000354995:N320S;ENSP00000339744:N331S;ENSP00000381464:N466S;ENSP00000343820:N428S	.	N	+	2	0	ABCG1	42579159	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.449000	0.90337	1.572000	0.49736	0.533000	0.62120	AAC		0.517	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		74	81	0	0	0	1	0	74	81					G	43706090	A	G	43706090	3	3	465	1	0	0	0	0	1	0	0	0	68	43	2	4	1157	4	ABCG1	21	43706090	Missense_Mutation	SNP	A	TCGA-YL-A8SP-01B-11D-A377-08		43706090	4423805	31	31509											
TRIOBP	11078	broad.mit.edu	37	chr22	38121968	38121968	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccccagagccttccctcttAttccaggacctccccagggc	6	8	8	19	0	1	1	0	0	1	1	4	2	4	2	8	2	1	0	8	2	1	3			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr22:38121968A>G	ENST00000406386.3	+	7	3660	c.3405A>G	c.(3403-3405)ttA>ttG	p.L1135L		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1135					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			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)					CTTCCCTCTTATTCCAGGACC	0.642																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(3403-3405)ttA>ttG		TRIO and F-actin binding protein							79	89	86					22																	38121968		1950	4136	6086	SO:0001819	synonymous_variant	11078				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	g.chr22:38121968A>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3405A>G	22.37:g.38121968A>G						RP1-37E16.12_ENST00000455236.1_RNA	p.L1135L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	3660	+	Melanoma(58;0.0574)		1135					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.3405A>G	CCDS43015.1																																																																																				0.642	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			40	49	0	0	0	1	0	40	49					G	38121968	A	G	38121968	2	3	465	1	0	0	0	0	0	0	0	1	16550	446	16	4		4	TRIOBP	22	38121968	Silent	SNP	A	TCGA-YL-A8SP-01B-11D-A377-08		38121968	13182598	32	31510											
MXRA5	25878	broad.mit.edu	37	chrX	3238698	3238698	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgctgggtttggacatgtgCaatgggagaggaattgttgt	9	13	16	3	0	0	1	0	0	0	1	0	4	0	3	0	4	2	4	0	4	2	3			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chrX:3238698C>T	ENST00000217939.6	-	5	5182	c.5028G>A	c.(5026-5028)ttG>ttA	p.L1676L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1676						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGACATGTGCAATGGGAGAG	0.418																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(5026-5028)ttG>ttA		matrix-remodelling associated 5							174	165	168					X																	3238698		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3238698C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5028G>A	X.37:g.3238698C>T							p.L1676L	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	5182	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1676					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.5028G>A	CCDS14124.1																																																																																				0.418	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		14	141	0	0	0	1	0	14	141					T	3238698	C	T	3238698	2	4	465	1	0	0	0	0	0	0	0	1	10003	709	25	3		3	MXRA5	23	3238698	Silent	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08		3238698	152031862	33	31511											
BCORL1	63035	broad.mit.edu	37	chrX	129148368	129148369	+	Frame_Shift_Ins	INS	-	-	C																															gcaccaccacccagcctgcaINScccgatggggtccctgggcc																										TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chrX:129148368_129148369insC	ENST00000218147.7	+	4	1817_1818	c.1620_1621insC	c.(1621-1623)cccfs	p.P541fs	BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.P541fs|BCORL1_ENST00000540052.1_Frame_Shift_Ins_p.P541fs|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.P541fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	541	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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						CCCAGCCTGCACCCGATGGGGT	0.624																																						ENST00000540052.1																			0				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						c.(1618-1623)gcccgafs		BCL6 corepressor-like 1																																				SO:0001589	frameshift_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148368_129148369insC	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1623dupC	X.37:g.129148371_129148371dupC	ENSP00000218147:p.Pro541fs					BCORL1_ENST00000218147.7_Frame_Shift_Ins_p.R541fs|BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.R541fs|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.R541fs	p.R541fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	1664_1665	+			541			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Ins	INS	ENST00000218147.7	37	c.1620_1621insC	CCDS14616.1																																																																																				0.624	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		7	105						7	105	---	---	---	---	C	129148369	-	C	129148368	7	5	465	1	0	1	1	0	0	0	0	0	1387	146	6	0	1630	0	BCORL1	23	129148368	Frame_Shift_Ins	INS	-	TCGA-YL-A8SP-01B-11D-A377-08	125909670	129148368	26122192	34	31512											
PCDH11Y	83259	broad.mit.edu	37	chrY	4967195	4967195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtaagtgcaacggatgcaGacagtgggcctaatgctgag	13	7	14	7	1	0	2	0	1	0	1	0	3	0	3	1	2	4	4	1	2	4	2			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chrY:4967195G>A	ENST00000333703.4	+	5	2056	c.1543G>A	c.(1543-1545)Gac>Aac	p.D515N	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.D526N|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.D526N	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AACGGATGCAGACAGTGGGCC	0.473																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1543-1545)Gac>Aac		protocadherin 11 Y-linked							52	47	48					Y																	4967195		599	1937	2536	SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4967195G>A	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.1543G>A	Y.37:g.4967195G>A	ENSP00000330552:p.Asp515Asn					PCDH11Y_ENST00000362095.5_Missense_Mutation_p.D526N|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.D526N	p.D515N	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			5	2056	+			526			Cadherin 5.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.1543G>A	CCDS14776.1																																																																																				0.473	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		15	40	0	0	0	1	0	15	40					A	4967195	G	A	4967195	3	1	465	1	0	0	0	0	1	0	0	0	11509	942	33	3	1618	3	PCDH11Y	24	4967195	Missense_Mutation	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08		4967195	54406371	35	31513											
KDM5D	8284	broad.mit.edu	37	chrY	21883102	21883102	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccacgtacagccagggCaccttcatgcctgagatgtc	9	8	10	14	1	1	1	1	1	0	1	2	2	1	1	4	1	4	2	4	1	1	2			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chrY:21883102C>A	ENST00000317961.4	-	12	1738	c.1467G>T	c.(1465-1467)gtG>gtT	p.V489V	KDM5D_ENST00000541639.1_Silent_p.V520V|KDM5D_ENST00000382806.2_Silent_p.V432V	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	489	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|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 (GO:0016706)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	ACAGCCAGGGCACCTTCATGC	0.478																																						ENST00000541639.1																			0				kidney(1)|large_intestine(9)|lung(6)|skin(1)	17						c.(1558-1560)gtG>gtT		lysine (K)-specific demethylase 5D	Vitamin C(DB00126)						112	111	111					Y																	21883102		613	1981	2594	SO:0001819	synonymous_variant	8284				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	g.chrY:21883102C>A	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11115	protein-coding gene	gene with protein product		426000	"Jumonji, AT rich interactive domain 1D (RBP2-like)", "Smcy homolog, Y-linked (mouse)", "jumonji, AT rich interactive domain 1D"	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.1467G>T	Y.37:g.21883102C>A						KDM5D_ENST00000382806.2_Silent_p.V432V|KDM5D_ENST00000317961.4_Silent_p.V489V	p.V520V	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN			13	1847	-			489			JmjC.		A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Silent	SNP	ENST00000317961.4	37	c.1560G>T	CCDS14794.1																																																																																				0.478	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653		25	6	1	0	1.66031e-10	1	1.78105e-10	25	6					A	21883102	C	A	21883102	2	1	465	1	0	0	0	0	0	0	0	1	8136	697	25	5		5	KDM5D	24	21883102	Silent	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08	16915907	21883102	37490464	36	31514											
PIK3CD	5293	broad.mit.edu	37	chr1	9776098	9776098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccctgcggctcccgaacCgggcccttctggtcaacgtt	5	9	11	16	4	2	0	1	0	1	0	3	1	3	0	4	3	4	3	4	3	3	3			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:9776098C>T	ENST00000377346.4	+	5	757	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	PIK3CD_ENST00000536656.1_Missense_Mutation_p.R188W|PIK3CD_ENST00000543390.1_5'Flank|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R188W	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	188	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GCTCCCGAACCGGGCCCTTCT	0.657																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(562-564)Cgg>Tgg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							12	15	14					1																	9776098		2187	4268	6455	SO:0001583	missense	5293				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	g.chr1:9776098C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.562C>T	1.37:g.9776098C>T	ENSP00000366563:p.Arg188Trp					PIK3CD_ENST00000377346.4_Missense_Mutation_p.R188W|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R188W	p.R188W			O00329	PK3CD_HUMAN		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)	5	770	+	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)	188					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.562C>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.693871	0.68386	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.45668	0.89;0.89;0.89	5.04	4.09	0.47781	Phosphoinositide 3-kinase, ras-binding (2);	0.253351	0.38837	N	0.001542	T	0.53417	0.1795	L	0.46157	1.445	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.997	P;D;P	0.67548	0.882;0.952;0.882	T	0.54470	-0.8289	10	0.72032	D	0.01	-28.9157	11.6944	0.51536	0.2942:0.7058:0.0:0.0	.	188;188;188	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	W	188	ENSP00000446444:R188W;ENSP00000366563:R188W;ENSP00000354410:R188W	ENSP00000353766:R188W	R	+	1	2	PIK3CD	9698685	0.959000	0.32827	0.694000	0.30210	0.713000	0.41058	1.671000	0.37513	2.619000	0.88677	0.561000	0.74099	CGG		0.657	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		6	16	0	0	0	1	0	6	16					T	9776098	C	T	9776098	3	4	466	1	0	0	0	0	1	0	0	0	11915	643	23	2	572	2	PIK3CD	1	9776098	Missense_Mutation	SNP	C	TCGA-YL-A8SQ-01B-11D-A377-08		9776098	239474523	1	31515											
NBPF1	55672	broad.mit.edu	37	chr1	16893756	16893756	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctggcatgagtcagtcagTtcaagataacctgaaggagt	12	9	13	7	0	3	3	3	2	0	1	3	4	3	4	1	3	1	3	1	3	3	2			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:16893756T>C	ENST00000430580.2	-	25	3644	c.2757A>G	c.(2755-2757)gaA>gaG	p.E919E	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	919	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									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)		AGTCAGTCAGTTCAAGATAAC	0.488																																						ENST00000430580.2																			0											c.(2755-2757)gaA>gaG		neuroblastoma breakpoint family, member 1							830	724	760					1																	16893756		2203	4298	6501	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16893756T>C	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2757A>G	1.37:g.16893756T>C						NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	p.E919E	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		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)	25	3644	-			919			NBPF 5.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.2757A>G																																																																																					0.488	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		26	2935	0	0	0	1	0	26	2935					C	16893756	T	C	16893756	2	2	466	1	0	0	0	0	0	0	0	1	10192	1722	60	4		4	NBPF1	1	16893756	Silent	SNP	T	TCGA-YL-A8SQ-01B-11D-A377-08	7117658	16893756	232356865	2	31516											
COL8A2	1296	broad.mit.edu	37	chr1	36563706	36563707	+	Frame_Shift_Ins	INS	-	-	C																															gcaccagggggtcccgggggINScccgggaggccccggagggc																								rs533259114		TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:36563706_36563707insC	ENST00000397799.1	-	4	1799_1800	c.1575_1576insG	c.(1573-1578)gggcccfs	p.P526fs	COL8A2_ENST00000303143.4_Frame_Shift_Ins_p.P526fs|COL8A2_ENST00000481785.1_Frame_Shift_Ins_p.P461fs			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	526	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTCCCGGGGGCCCGGGAGGCC	0.748																																						ENST00000397799.1																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1573-1578)ggccccfs		collagen, type VIII, alpha 2																																				SO:0001589	frameshift_variant	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36563706_36563707insC	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1576dupG	1.37:g.36563709_36563709dupC	ENSP00000380901:p.Pro526fs					COL8A2_ENST00000481785.1_Frame_Shift_Ins_p.GP460fs|COL8A2_ENST00000303143.4_Frame_Shift_Ins_p.GP525fs	p.GP525fs			P25067	CO8A2_HUMAN			4	1799_1800	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	525			Triple-helical region.		Q5JV31|Q8TEJ5	Frame_Shift_Ins	INS	ENST00000397799.1	37	c.1575_1576insG	CCDS403.1																																																																																				0.748	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		3	4						3	4	---	---	---	---	C	36563707	-	C	36563706	7	5	466	1	0	1	1	0	0	0	0	0	3706	1203	42	0	539	0	COL8A2	1	36563706	Frame_Shift_Ins	INS	-	TCGA-YL-A8SQ-01B-11D-A377-08	19669950	36563706	212686915	3	31517											
FLG	2312	broad.mit.edu	37	chr1	152277018	152277018	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctaccgattgctcgtagtgGgatccctgccttcctcttct	4	15	8	14	2	3	0	0	0	3	0	6	2	5	1	4	1	3	2	4	1	2	5			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:152277018G>A	ENST00000368799.1	-	3	10379	c.10344C>T	c.(10342-10344)tcC>tcT	p.S3448S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3448	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			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)			GCTCGTAGTGGGATCCCTGCC	0.602									Ichthyosis																													ENST00000368799.1																			0				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						c.(10342-10344)tcC>tcT		filaggrin							362	342	349					1																	152277018		2203	4299	6502	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277018G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10344C>T	1.37:g.152277018G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S3448S	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3448			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.10344C>T	CCDS30860.1																																																																																				0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		45	359	0	0	0	1	0	45	359					A	152277018	G	A	152277018	2	1	466	1	0	0	0	0	0	0	0	1	5922	1219	43	3		3	FLG	1	152277018	Silent	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08	115713312	152277018	96973603	4	31518											
CD1B	910	broad.mit.edu	37	chr1	158299390	158299390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcacacaagctgcagaCggccaggtccaggactgggg	10	4	15	12	1	0	1	0	0	0	1	1	2	1	2	2	6	2	3	2	6	1	0	rs137886679	byFrequency	TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:158299390C>T	ENST00000368168.3	-	4	763	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	219	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AAGCTGCAGACGGCCAGGTCC	0.572																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(655-657)cGt>cAt		CD1b molecule		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	66	66	66		656	-2.3	0.7	1	dbSNP_134	66	0,8600		0,0,4300	no	missense	CD1B	NM_001764.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	219/334	158299390	2,13004	2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299390C>T	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.656G>A	1.37:g.158299390C>T	ENSP00000357150:p.Arg219His						p.R219H	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			4	763	-	all_hematologic(112;0.0378)		219			Ig-like.		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.656G>A	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328781	0.24167	4.54E-4	0.0	ENSG00000158485	ENST00000368168	T	0.13901	2.55	4.26	-2.27	0.06846	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (1);	0.911836	0.09158	N	0.840545	T	0.01489	0.0048	N	0.11341	0.13	0.09310	N	1	B;B	0.16396	0.017;0.014	B;B	0.15052	0.012;0.003	T	0.48293	-0.9048	10	0.20046	T	0.44	-2.2436	4.1901	0.10417	0.1721:0.3129:0.0:0.515	.	219;219	P29016;P29016-2	CD1B_HUMAN;.	H	219	ENSP00000357150:R219H	ENSP00000357150:R219H	R	-	2	0	CD1B	156566014	0.000000	0.05858	0.671000	0.29857	0.996000	0.88848	-1.281000	0.02802	-0.309000	0.08779	0.655000	0.94253	CGT		0.572	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		27	47	0	0	0	1	0	27	47					T	158299390	C	T	158299390	3	4	466	1	0	0	0	0	1	0	0	0	2975	536	19	1	357	1	CD1B	1	158299390	Missense_Mutation	SNP	C	TCGA-YL-A8SQ-01B-11D-A377-08	6022372	158299390	90951231	5	31519											
CACNA1E	777	broad.mit.edu	37	chr1	181546961	181546961	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctgaggaccctccgggCtgtgcgtgtcctgcggcctt	3	9	15	14	3	0	1	0	1	0	0	2	3	2	3	5	4	2	1	5	4	0	1			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:181546961C>A	ENST00000367573.2	+	4	572	c.572C>A	c.(571-573)gCt>gAt	p.A191D	CACNA1E_ENST00000357570.5_Missense_Mutation_p.A142D|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A191D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A142D|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A191D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A191D	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	191					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.A191V(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCCTCCGGGCTGTGCGTGTC	0.547																																						ENST00000526775.1																			1	Substitution - Missense(1)	p.A191V(1)	skin(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(571-573)gCt>gAt		calcium channel, voltage-dependent, R type, alpha 1E subunit							61	65	63					1																	181546961		2010	4177	6187	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181546961C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.572C>A	1.37:g.181546961C>A	ENSP00000356545:p.Ala191Asp					CACNA1E_ENST00000367570.1_Missense_Mutation_p.A191D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A142D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A191D|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A191D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A142D|CACNA1E_ENST00000367567.4_5'UTR	p.A191D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			4	737	+			191					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.572C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519586	0.96416	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.98542	4.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97885	1.0294	10	0.87932	D	0	.	20.017	0.97481	0.0:1.0:0.0:0.0	.	191;191	Q15878-2;Q15878-3	.;.	D	191;191;191;142;142;191;191	ENSP00000432038:A191D;ENSP00000356542:A191D;ENSP00000434814:A191D;ENSP00000350183:A142D;ENSP00000351101:A142D;ENSP00000353222:A191D;ENSP00000356545:A191D	ENSP00000350183:A142D	A	+	2	0	CACNA1E	179813584	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.711000	0.84669	2.832000	0.97577	0.655000	0.94253	GCT		0.547	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		3	14	1	0	1	1	1	3	14					A	181546961	C	A	181546961	3	1	466	1	0	0	0	0	1	0	0	0	2542	797	28	5	586	5	CACNA1E	1	181546961	Missense_Mutation	SNP	C	TCGA-YL-A8SQ-01B-11D-A377-08	23247571	181546961	67703660	6	31520											
OR2G6	391211	broad.mit.edu	37	chr1	248685230	248685230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagacaaaaccatgagctacGgtggctgtgtggcccagctc	11	7	12	11	1	0	2	0	1	0	1	1	2	0	2	2	3	4	3	2	3	4	1	rs148238174		TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:248685230G>A	ENST00000343414.4	+	1	315	c.283G>A	c.(283-285)Ggt>Agt	p.G95S		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGAGCTACGGTGGCTGTGT	0.537																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(283-285)Ggt>Agt		olfactory receptor, family 2, subfamily G, member 6		G	SER/GLY	0,4406		0,0,2203	119	115	116		283	1.5	0	1	dbSNP_134	116	1,8599		0,1,4299	no	missense	OR2G6	NM_001013355.1	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	95/317	248685230	1,13005	2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685230G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.283G>A	1.37:g.248685230G>A	ENSP00000341291:p.Gly95Ser						p.G95S	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	315	+	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)	95					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.283G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	4.605	0.112449	0.08831	0.0	1.16E-4	ENSG00000188558	ENST00000343414	T	0.00388	7.59	3.68	1.45	0.22620	GPCR, rhodopsin-like superfamily (1);	0.562519	0.15139	U	0.278416	T	0.00144	0.0004	N	0.17764	0.52	0.09310	N	1	B	0.34255	0.445	B	0.23419	0.046	T	0.23797	-1.0178	10	0.26408	T	0.33	.	4.9973	0.14245	0.1336:0.0:0.6545:0.2119	.	95	Q5TZ20	OR2G6_HUMAN	S	95	ENSP00000341291:G95S	ENSP00000341291:G95S	G	+	1	0	OR2G6	246751853	0.000000	0.05858	0.005000	0.12908	0.094000	0.18550	-2.753000	0.00791	0.672000	0.31204	0.400000	0.26472	GGT		0.537	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		20	60	0	0	0	1	0	20	60					A	248685230	G	A	248685230	3	1	466	1	0	0	0	0	1	0	0	0	11000	1116	39	2	285	2	OR2G6	1	248685230	Missense_Mutation	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08	67138269	248685230	565391	7	31521											
RGPD4	285190	broad.mit.edu	37	chr2	108487639	108487639	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaaggtgaaaaagttcTgtattcacagggggtaaaac	17	8	12	4	0	2	3	1	1	1	2	2	3	2	3	0	3	1	3	0	3	7	4			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:108487639T>G	ENST00000408999.3	+	20	3256	c.3179T>G	c.(3178-3180)cTg>cGg	p.L1060R	RGPD4_ENST00000354986.4_Missense_Mutation_p.L1060R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1060	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GAAAAAGTTCTGTATTCACAG	0.393																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(3178-3180)cTg>cGg		RANBP2-like and GRIP domain containing 4							10	8	8					2																	108487639		681	1560	2241	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108487639T>G	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3179T>G	2.37:g.108487639T>G	ENSP00000386810:p.Leu1060Arg					RGPD4_ENST00000354986.4_Missense_Mutation_p.L1060R	p.L1060R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	3256	+			1060			RanBD1 1.		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.3179T>G	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	8.949	0.967792	0.18659	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.58210	0.35;0.35	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.75591	0.3870	M	0.92507	3.315	0.27189	N	0.960459	D	0.76494	0.999	D	0.77557	0.99	T	0.64841	-0.6312	9	0.72032	D	0.01	-19.8587	9.2036	0.37275	0.0:0.0:0.0:1.0	.	1060	Q7Z3J3	RGPD4_HUMAN	R	1060;1060;818	ENSP00000347081:L1060R;ENSP00000386810:L1060R	ENSP00000347081:L1060R	L	+	2	0	RGPD4	107854071	1.000000	0.71417	0.998000	0.56505	0.051000	0.14879	5.932000	0.70121	1.072000	0.40860	0.136000	0.15936	CTG		0.393	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		108	506	0	0	0	1	0	108	506					G	108487639	T	G	108487639	3	3	466	1	0	0	0	0	1	0	0	0	13288	1580	55	5	3257	5	RGPD4	2	108487639	Missense_Mutation	SNP	T	TCGA-YL-A8SQ-01B-11D-A377-08		108487639	134711734	8	31522											
BCL2L11	10018	broad.mit.edu	37	chr2	111907651	111907651	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctgaacctgcagataTgcgcccagagatatggatcg	11	7	13	10	2	0	3	0	1	0	2	1	5	0	4	2	2	3	3	2	2	3	2	rs114585494	byFrequency	TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:111907651T>A	ENST00000393256.3	+	3	698	c.425T>A	c.(424-426)aTg>aAg	p.M142K	BCL2L11_ENST00000357757.2_Missense_Mutation_p.M142K|BCL2L11_ENST00000393253.2_Missense_Mutation_p.M52K|BCL2L11_ENST00000308659.8_Missense_Mutation_p.M82K	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	142					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						CCTGCAGATATGCGCCCAGAG	0.448																																						ENST00000393256.3																			0				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						c.(424-426)aTg>aAg		BCL2-like 11 (apoptosis facilitator)							132	103	113					2																	111907651		2203	4300	6503	SO:0001583	missense	10018				activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding	g.chr2:111907651T>A	AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.425T>A	2.37:g.111907651T>A	ENSP00000376943:p.Met142Lys					BCL2L11_ENST00000308659.8_Missense_Mutation_p.M82K|BCL2L11_ENST00000393253.2_Missense_Mutation_p.M52K|BCL2L11_ENST00000357757.2_Missense_Mutation_p.M142K	p.M142K	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN			3	698	+			142					A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Missense_Mutation	SNP	ENST00000393256.3	37	c.425T>A	CCDS2089.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.908828	0.52439	.	.	ENSG00000153094	ENST00000308659;ENST00000357757;ENST00000393253;ENST00000393256;ENST00000452033	.	.	.	5.98	3.56	0.40772	Bcl-x interacting (1);	0.476832	0.21345	N	0.076065	T	0.41926	0.1180	L	0.27053	0.805	0.80722	D	1	B;B;B	0.22211	0.062;0.02;0.066	B;B;B	0.16722	0.015;0.016;0.014	T	0.27226	-1.0080	9	0.87932	D	0	0.5293	7.8793	0.29612	0.0:0.1643:0.0:0.8357	.	52;142;82	O43521-3;O43521;O43521-2	.;B2L11_HUMAN;.	K	82;142;52;142;9	.	ENSP00000309226:M82K	M	+	2	0	BCL2L11	111624122	0.965000	0.33210	0.538000	0.28064	0.970000	0.65996	1.697000	0.37784	0.488000	0.27723	0.533000	0.62120	ATG		0.448	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254022.3			5	45	0	0	0	1	0	5	45					A	111907651	T	A	111907651	3	1	466	1	0	0	0	0	1	0	0	0	1369	1464	51	5	560	5	BCL2L11	2	111907651	Missense_Mutation	SNP	T	TCGA-YL-A8SQ-01B-11D-A377-08	3420012	111907651	131291722	9	31523											
TTN	7273	broad.mit.edu	37	chr2	179425080	179425081	+	Frame_Shift_Ins	INS	-	-	T																															cacgcacccatcttaggctaINStttttctctcgcctttcaat																										TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:179425080_179425081insT	ENST00000591111.1	-	276	81079_81080	c.80855_80856insA	c.(80854-80856)aatfs	p.N26952fs	TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.N19528fs|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.N19653fs|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.N19720fs|TTN_ENST00000342992.6_Frame_Shift_Ins_p.N26025fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.N28593fs			Q8WZ42	TITIN_HUMAN	titin	26952	Fibronectin type-III 96. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			ATCTTAGGCTATTTTTCTCTCG	0.386																																						ENST00000589042.1																			0				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						c.(85777-85779)aagfs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425080_179425081insT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80856dupA	2.37:g.179425085_179425085dupT	ENSP00000465570:p.Asn26952fs					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.K26952fs|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.K19653fs|TTN_ENST00000342175.6_Frame_Shift_Ins_p.K19720fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.K19528fs|TTN_ENST00000342992.6_Frame_Shift_Ins_p.K26025fs|TTN-AS1_ENST00000586831.1_RNA	p.K28593fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	86002_86003	-			26952			Fibronectin type-III 108.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	ENST00000591111.1	37	c.85778_85779insA																																																																																					0.386	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	24						24	24	---	---	---	---	T	179425081	-	T	179425080	7	5	466	1	0	1	1	0	0	0	0	0	16732	446	16	0	22348	0	TTN	2	179425080	Frame_Shift_Ins	INS	-	TCGA-YL-A8SQ-01B-11D-A377-08	67517429	179425080	63774293	10	31524											
NBEAL1	65065	broad.mit.edu	37	chr2	204073899	204073899	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaggatggaacggtgattAtacataccattcagaaaggt	14	11	11	5	1	1	2	1	1	0	1	1	4	1	4	1	4	3	1	1	4	6	5			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:204073899A>G	ENST00000449802.1	+	52	7885	c.7552A>G	c.(7552-7554)Ata>Gta	p.I2518V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2518										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AACGGTGATTATACATACCAT	0.388																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(7552-7554)Ata>Gta		neurobeachin-like 1							122	112	115					2																	204073899		1883	4104	5987	SO:0001583	missense	65065						binding	g.chr2:204073899A>G	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7552A>G	2.37:g.204073899A>G	ENSP00000399903:p.Ile2518Val						p.I2518V	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			52	7885	+			2518					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.7552A>G	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	9.333	1.061057	0.19987	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.60040	0.22;0.22	5.26	2.85	0.33270	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.139426	0.46442	U	0.000282	T	0.33876	0.0878	N	0.12527	0.23	0.41000	D	0.984921	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12837	0.004;0.003;0.008	T	0.06463	-1.0825	10	0.17369	T	0.5	.	8.6629	0.34103	0.7731:0.0:0.2269:0.0	.	1228;2518;2507	D1MPS9;Q6ZS30;C9JGK5	.;NBEL1_HUMAN;.	V	2518;2449;533	ENSP00000399903:I2518V;ENSP00000388466:I533V	ENSP00000344985:I2449V	I	+	1	0	NBEAL1	203782144	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.814000	0.48010	0.313000	0.23062	0.377000	0.23210	ATA		0.388	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			22	85	0	0	0	1	0	22	85					G	204073899	A	G	204073899	3	3	466	1	0	0	0	0	1	0	0	0	10188	449	16	4	7754	4	NBEAL1	2	204073899	Missense_Mutation	SNP	A	TCGA-YL-A8SQ-01B-11D-A377-08	24648819	204073899	39125474	11	31525											
FZD5	7855	broad.mit.edu	37	chr2	208632400	208632400	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtggaagtactgcgcgtagCccgcgatggcctcgttgccc	5	8	15	13	5	0	0	0	0	0	0	1	2	0	1	3	3	4	3	3	3	3	3			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:208632400C>A	ENST00000295417.3	-	2	1617	c.1064G>T	c.(1063-1065)gGc>gTc	p.G355V		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	355					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CTGCGCGTAGCCCGCGATGGC	0.662																																						ENST00000295417.3																			0				NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7						c.(1063-1065)gGc>gTc		frizzled family receptor 5							62	55	58					2																	208632400		2203	4300	6503	SO:0001583	missense	7855				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	g.chr2:208632400C>A	U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"GPCR / Class F : Frizzled receptors"	4043	protein-coding gene	gene with protein product		601723	"frizzled (Drosophila) homolog 5", "chromosome 2 open reading frame 31", "frizzled homolog 5 (Drosophila)", "frizzled 5, seven transmembrane spanning receptor", "frizzled family receptor 5"	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.1064G>T	2.37:g.208632400C>A	ENSP00000354607:p.Gly355Val						p.G355V	NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)	2	1617	-			355					A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	37	c.1064G>T	CCDS33366.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080418	0.76528	.	.	ENSG00000163251	ENST00000295417	D	0.82081	-1.57	5.01	5.01	0.66863	GPCR, family 2-like (1);	0.219359	0.47455	U	0.000240	D	0.89396	0.6703	M	0.84683	2.71	0.80722	D	1	P	0.34699	0.464	P	0.45794	0.493	D	0.90581	0.4529	10	0.72032	D	0.01	.	18.3258	0.90254	0.0:1.0:0.0:0.0	.	355	Q13467	FZD5_HUMAN	V	355	ENSP00000354607:G355V	ENSP00000354607:G355V	G	-	2	0	FZD5	208340645	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.818000	0.86416	2.333000	0.79357	0.561000	0.74099	GGC		0.662	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		3	18	1	0	0.115264	1	0.119875	3	18					A	208632400	C	A	208632400	3	1	466	1	0	0	0	0	1	0	0	0	6133	739	26	5	697	5	FZD5	2	208632400	Missense_Mutation	SNP	C	TCGA-YL-A8SQ-01B-11D-A377-08	4558501	208632400	34566973	12	31526											
DOCK10	55619	broad.mit.edu	37	chr2	225719727	225719727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatatccaggcttccaGgaatggtctgcattttgctt	9	13	9	10	0	1	0	0	0	1	0	3	1	3	1	2	3	3	4	2	3	3	5			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:225719727G>T	ENST00000258390.7	-	16	1908	c.1841C>A	c.(1840-1842)cCt>cAt	p.P614H	DOCK10_ENST00000409592.3_Missense_Mutation_p.P608H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	614					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		CAGGCTTCCAGGAATGGTCTG	0.428																																						ENST00000409592.3																			0				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						c.(1822-1824)cCt>cAt		dedicator of cytokinesis 10							91	93	92					2																	225719727		1993	4165	6158	SO:0001583	missense	55619						GTP binding	g.chr2:225719727G>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1841C>A	2.37:g.225719727G>T	ENSP00000258390:p.Pro614His					DOCK10_ENST00000258390.7_Missense_Mutation_p.P614H	p.P608H			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	16	1936	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	614					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.1823C>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662912	0.88251	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.24908	1.83;1.83	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	M	0.89287	3.02	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.979	T	0.67469	-0.5663	10	0.72032	D	0.01	.	19.3479	0.94372	0.0:0.0:1.0:0.0	.	614;608	Q96BY6;B3FL70	DOC10_HUMAN;.	H	608;614	ENSP00000386694:P608H;ENSP00000258390:P614H	ENSP00000258390:P614H	P	-	2	0	DOCK10	225427971	1.000000	0.71417	0.961000	0.40146	0.909000	0.53808	6.194000	0.72082	2.632000	0.89209	0.643000	0.83706	CCT		0.428	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			3	16	1	0	1	1	1	3	16					T	225719727	G	T	225719727	3	4	466	1	0	0	0	0	1	0	0	0	4685	1000	35	5	4883	5	DOCK10	2	225719727	Missense_Mutation	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08	17087327	225719727	17479646	13	31527											
UBA7	7318	broad.mit.edu	37	chr3	49845862	49845862	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagggcccacactccagActtccagggctttgttcagt	7	9	13	12	0	1	1	1	0	0	1	3	2	3	2	3	4	0	2	3	4	0	3			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr3:49845862A>C	ENST00000333486.3	-	19	2545	c.2387T>G	c.(2386-2388)gTc>gGc	p.V796G	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	796					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CACACTCCAGACTTCCAGGGC	0.587																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(2386-2388)gTc>gGc		ubiquitin-like modifier activating enzyme 7							132	139	136					3																	49845862		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49845862A>C	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2387T>G	3.37:g.49845862A>C	ENSP00000333266:p.Val796Gly						p.V796G	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	19	2545	-			796					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.2387T>G	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	A	8.396	0.840954	0.16891	.	.	ENSG00000182179	ENST00000333486	T	0.42900	0.96	4.79	-2.31	0.06765	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	1.186740	0.05816	N	0.614793	T	0.23572	0.0570	N	0.19112	0.55	0.22457	N	0.999083	B	0.02656	0.0	B	0.01281	0.0	T	0.18085	-1.0348	10	0.33141	T	0.24	-0.8934	3.2797	0.06911	0.3199:0.0:0.1902:0.4899	.	796	P41226	UBA7_HUMAN	G	796	ENSP00000333266:V796G	ENSP00000333266:V796G	V	-	2	0	UBA7	49820866	0.001000	0.12720	0.046000	0.18839	0.096000	0.18686	-0.377000	0.07456	-0.239000	0.09710	0.459000	0.35465	GTC		0.587	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		16	48	0	0	0	1	0	16	48					C	49845862	A	C	49845862	3	2	466	1	0	0	0	0	1	0	0	0	16830	275	10	5	675	5	UBA7	3	49845862	Missense_Mutation	SNP	A	TCGA-YL-A8SQ-01B-11D-A377-08		49845862	148176568	14	31528											
ZNF732	654254	broad.mit.edu	37	chr4	265718	265718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attaaagactttgccacattCctgacatttgtagagtttct	11	16	6	8	0	1	3	0	1	1	2	2	3	2	3	2	0	1	2	2	0	3	6			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:265718C>T	ENST00000419098.1	-	4	938	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						TTGCCACATTCCTGACATTTG	0.388																																						ENST00000419098.1																			0				endometrium(1)|lung(2)	3						c.(928-930)Gaa>Aaa		zinc finger protein 732							68	64	65					4																	265718		692	1591	2283	SO:0001583	missense	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:265718C>T	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.928G>A	4.37:g.265718C>T	ENSP00000415774:p.Glu310Lys						p.E310K	NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN			4	938	-			310						Missense_Mutation	SNP	ENST00000419098.1	37	c.928G>A	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102659	0.37145	.	.	ENSG00000186777	ENST00000419098	T	0.07327	3.2	0.977	0.977	0.19733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10637	0.0260	N	0.17838	0.53	0.19945	N	0.999947	P	0.48589	0.912	P	0.56088	0.791	T	0.26467	-1.0102	9	0.72032	D	0.01	.	7.3306	0.26580	0.0:1.0:0.0:0.0	.	310	B4DXR9	ZN732_HUMAN	K	310	ENSP00000415774:E310K	ENSP00000415774:E310K	E	-	1	0	ZNF732	255718	0.000000	0.05858	0.092000	0.20876	0.084000	0.17831	-0.220000	0.09215	0.399000	0.25367	0.400000	0.26472	GAA		0.388	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		3	15	0	0	0	1	0	3	15					T	265718	C	T	265718	3	4	466	1	0	0	0	0	1	0	0	0	18120	864	30	3	833	3	ZNF732	4	265718	Missense_Mutation	SNP	C	TCGA-YL-A8SQ-01B-11D-A377-08		265718	190888558	15	31529											
UTP3	57050	broad.mit.edu	37	chr4	71555199	71555210	+	In_Frame_Del	DEL	TACAACCTCTAC	TACAACCTCTAC	-																															gccaatacttgaggaccaagTacaacctctacttgaattat																										TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:71555199_71555210delTACAACCTCTAC	ENST00000254803.2	+	1	1004_1015	c.805_816delTACAACCTCTAC	c.(805-816)tacaacctctacdel	p.YNLY269del		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	269					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GAGGACCAAGTACAACCTCTACTTGAATTATT	0.443																																						ENST00000254803.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(805-816)del		UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71555199_71555210delTACAACCTCTAC	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"disrupter of silencing 10"	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.805_816delTACAACCTCTAC	4.37:g.71555199_71555210delTACAACCTCTAC	ENSP00000254803:p.Tyr269_Tyr272del						p.YNLY269del	NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	1004_1015	+			269					Q6FI82	In_Frame_Del	DEL	ENST00000254803.2	37	c.805_816delTACAACCTCTAC	CCDS3546.1																																																																																				0.443	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		25	156						25	156	---	---	---	---	-	71555210	TACAACCTCTAC	-	71555199	7	5	466	1	0	1	0	1	0	0	0	0	17098	1638	57	0	807	0	UTP3	4	71555199	In_Frame_Del	DEL	TACAACCTCTAC	TCGA-YL-A8SQ-01B-11D-A377-08	71289481	71555199	119599077	16	31530											
FRAS1	80144	broad.mit.edu	37	chr4	79340185	79340185	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccaagtggaaagattgtctAcaacatcactctacctctgc	12	10	7	12	0	4	1	1	0	3	1	4	2	4	2	2	1	4	0	2	1	5	3			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:79340185A>G	ENST00000325942.6	+	33	4948	c.4508A>G	c.(4507-4509)tAc>tGc	p.Y1503C	FRAS1_ENST00000264895.6_Missense_Mutation_p.Y1503C	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1503					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAGATTGTCTACAACATCACT	0.363																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(4507-4509)tAc>tGc		Fraser syndrome 1							180	173	175					4																	79340185		1881	4114	5995	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79340185A>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4508A>G	4.37:g.79340185A>G	ENSP00000326330:p.Tyr1503Cys					FRAS1_ENST00000325942.6_Missense_Mutation_p.Y1503C	p.Y1503C	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			33	4948	+			1502					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.4508A>G	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.911267	0.33721	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.56444	0.46;0.46	5.22	5.22	0.72569	.	0.069181	0.64402	D	0.000012	T	0.72203	0.3431	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.975	T	0.76610	-0.2896	10	0.87932	D	0	.	11.1482	0.48442	0.8621:0.0:0.0:0.1379	.	1503;1503	E9PHH6;A2RRR8	.;.	C	1503	ENSP00000326330:Y1503C;ENSP00000264895:Y1503C	ENSP00000264895:Y1503C	Y	+	2	0	FRAS1	79559209	0.998000	0.40836	0.720000	0.30636	0.017000	0.09413	2.789000	0.47813	2.099000	0.63709	0.533000	0.62120	TAC		0.363	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			6	104	0	0	0	1	0	6	104					G	79340185	A	G	79340185	3	3	466	1	0	0	0	0	1	0	0	0	6042	391	14	4	4638	4	FRAS1	4	79340185	Missense_Mutation	SNP	A	TCGA-YL-A8SQ-01B-11D-A377-08	7784986	79340185	111814091	17	31531											
TACR3	6870	broad.mit.edu	37	chr4	104579429	104579429	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagagtacggcctggcAtgactttggttttggaataa	11	11	13	6	1	0	2	0	1	0	1	0	4	0	3	1	4	2	4	1	4	3	5	rs201587477		TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:104579429A>C	ENST00000304883.2	-	2	820	c.680T>G	c.(679-681)aTg>aGg	p.M227R		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	227					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ACGGCCTGGCATGACTTTGGT	0.398																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(679-681)aTg>aGg		tachykinin receptor 3							139	130	133					4																	104579429		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104579429A>C	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.680T>G	4.37:g.104579429A>C	ENSP00000303325:p.Met227Arg						p.M227R	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	2	820	-		Hepatocellular(203;0.217)	227					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.680T>G	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.372152	0.24857	.	.	ENSG00000169836	ENST00000304883	T	0.36157	1.27	6.07	6.07	0.98685	GPCR, rhodopsin-like superfamily (1);	0.185998	0.53938	D	0.000042	T	0.23289	0.0563	N	0.25144	0.715	0.43959	D	0.996635	P	0.46142	0.873	B	0.39465	0.3	T	0.04053	-1.0981	10	0.27082	T	0.32	.	10.1772	0.42946	0.9266:0.0:0.0734:0.0	.	227	P29371	NK3R_HUMAN	R	227	ENSP00000303325:M227R	ENSP00000303325:M227R	M	-	2	0	TACR3	104798878	0.987000	0.35691	0.999000	0.59377	0.278000	0.26855	3.527000	0.53517	2.326000	0.78906	0.533000	0.62120	ATG		0.398	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		10	48	0	0	0	1	0	10	48					C	104579429	A	C	104579429	3	2	466	1	0	0	0	0	1	0	0	0	15504	217	8	5	733	5	TACR3	4	104579429	Missense_Mutation	SNP	A	TCGA-YL-A8SQ-01B-11D-A377-08	25239244	104579429	86574847	18	31532											
RAB33B	83452	broad.mit.edu	37	chr4	140375467	140375467	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaagataatcgtgatcGgcgactccaatgtgggcaag	11	10	11	9	3	2	2	1	1	1	1	5	3	3	2	1	2	0	1	1	2	4	2			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:140375467G>C	ENST00000305626.5	+	1	507	c.118G>C	c.(118-120)Ggc>Cgc	p.G40R	RP11-83A24.2_ENST00000610159.1_RNA|RP11-83A24.2_ENST00000608661.1_RNA|RP11-83A24.2_ENST00000609359.1_RNA|RP11-83A24.2_ENST00000608663.1_RNA	NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	40					autophagy (GO:0006914)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of retrograde vesicle-mediated transport, Golgi to ER (GO:2000156)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					AATCGTGATCGGCGACTCCAA	0.622																																						ENST00000305626.5																			0				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(118-120)Ggc>Cgc		RAB33B, member RAS oncogene family							51	49	49					4																	140375467		2203	4300	6503	SO:0001583	missense	83452				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr4:140375467G>C	AF350420	CCDS3747.1	4q28	2008-02-05			ENSG00000172007	ENSG00000172007		"RAB, member RAS oncogene"	16075	protein-coding gene	gene with protein product		605950					Standard	NM_031296		Approved	DKFZP434G099	uc003ihv.3	Q9H082	OTTHUMG00000133384	ENST00000305626.5:c.118G>C	4.37:g.140375467G>C	ENSP00000306496:p.Gly40Arg						p.G40R	NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN			1	507	+	all_hematologic(180;0.162)		40					B2R987|Q4W5B0	Missense_Mutation	SNP	ENST00000305626.5	37	c.118G>C	CCDS3747.1	.	.	.	.	.	.	.	.	.	.	G	35	5.439628	0.96168	.	.	ENSG00000172007	ENST00000305626	D	0.98862	-5.19	5.17	4.31	0.51392	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.99521	0.9829	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97815	1.0253	10	0.87932	D	0	.	15.2042	0.73165	0.0:0.0:0.8577:0.1423	.	40	Q9H082	RB33B_HUMAN	R	40	ENSP00000306496:G40R	ENSP00000306496:G40R	G	+	1	0	RAB33B	140594917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.569000	0.98170	1.269000	0.44280	0.462000	0.41574	GGC		0.622	RAB33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257235.2	NM_031296		16	21	0	0	0	1	0	16	21					C	140375467	G	C	140375467	3	2	466	1	0	0	0	0	1	0	0	0	12923	1116	39	5	120	5	RAB33B	4	140375467	Missense_Mutation	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08	35796038	140375467	50778809	19	31533											
CYP4V2	285440	broad.mit.edu	37	chr4	187131663	187131663	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaaagaccattctttcGtgcatcctgaggcacttttg	11	12	9	9	1	1	3	0	1	1	2	3	4	2	3	2	1	1	2	2	1	3	4	rs141950964	byFrequency	TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:187131663G>T	ENST00000378802.4	+	11	1750	c.1446G>T	c.(1444-1446)tcG>tcT	p.S482S	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	482					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CCATTCTTTCGTGCATCCTGA	0.393																																						ENST00000378802.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20						c.(1444-1446)tcG>tcT		cytochrome P450, family 4, subfamily V, polypeptide 2							126	123	124					4																	187131663		2203	4300	6503	SO:0001819	synonymous_variant	285440				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	g.chr4:187131663G>T	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"Cytochrome P450s"	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.1446G>T	4.37:g.187131663G>T						CYP4V2_ENST00000502665.1_3'UTR	p.S482S	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN		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)	11	1750	+		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)	482					B7U6W2|Q6ZTM4	Silent	SNP	ENST00000378802.4	37	c.1446G>T	CCDS34119.1																																																																																				0.393	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		14	61	1	0	6.72482e-11	1	7.44023e-11	14	61					T	187131663	G	T	187131663	2	4	466	1	0	0	0	0	0	0	0	1	4192	1132	40	5		5	CYP4V2	4	187131663	Silent	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08	46756196	187131663	4022613	20	31534											
DNAH5	1767	broad.mit.edu	37	chr5	13871697	13871697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacagagcaatggaacccaCacagacatattcaggctcag	15	6	9	11	0	2	2	2	0	0	2	2	3	2	3	1	2	3	3	1	2	4	3			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr5:13871697C>T	ENST00000265104.4	-	23	3678	c.3574G>A	c.(3574-3576)Gtg>Atg	p.V1192M	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1192	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)					ATGGAACCCACACAGACATAT	0.368									Kartagener syndrome																													ENST00000265104.4																			0				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						c.(3574-3576)Gtg>Atg		dynein, axonemal, heavy chain 5							119	127	124					5																	13871697		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13871697C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3574G>A	5.37:g.13871697C>T	ENSP00000265104:p.Val1192Met					CTB-51A17.1_ENST00000503244.1_RNA	p.V1192M	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			23	3678	-	Lung NSC(4;0.00476)		1192			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.3574G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463113	0.84425	.	.	ENSG00000039139	ENST00000265104	T	0.25912	1.77	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	M	0.88377	2.95	0.80722	D	1	P	0.39404	0.672	P	0.45753	0.492	T	0.53774	-0.8391	10	0.59425	D	0.04	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	1192	Q8TE73	DYH5_HUMAN	M	1192	ENSP00000265104:V1192M	ENSP00000265104:V1192M	V	-	1	0	DNAH5	13924697	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.763000	0.68818	2.840000	0.97914	0.655000	0.94253	GTG		0.368	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		43	46	0	0	0	1	0	43	46					T	13871697	C	T	13871697	3	4	466	1	0	0	0	0	1	0	0	0	4604	478	17	3	10528	3	DNAH5	5	13871697	Missense_Mutation	SNP	C	TCGA-YL-A8SQ-01B-11D-A377-08		13871697	167043563	21	31535											
GFPT2	9945	broad.mit.edu	37	chr5	179740918	179740918	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcccacggtgagagcgccGcggtccttacagtagcgcag	8	5	14	14	6	0	1	0	1	0	1	1	2	1	1	3	2	3	2	3	2	2	2			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr5:179740918G>A	ENST00000253778.8	-	14	1489	c.1320C>T	c.(1318-1320)cgC>cgT	p.R440R	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	440	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGAGAGCGCCGCGGTCCTTAC	0.726																																						ENST00000253778.8																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1318-1320)cgC>cgT		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						18	24	22					5																	179740918		2157	4251	6408	SO:0001819	synonymous_variant	9945				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	g.chr5:179740918G>A	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1320C>T	5.37:g.179740918G>A							p.R440R	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	1489	-	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)	440			SIS 1.		Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	c.1320C>T	CCDS43411.1																																																																																				0.726	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		12	13	0	0	0	1	0	12	13					A	179740918	G	A	179740918	2	1	466	1	0	0	0	0	0	0	0	1	6346	1074	38	1		1	GFPT2	5	179740918	Silent	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08	165869221	179740918	1174342	22	31536											
TRIM10	10107	broad.mit.edu	37	chr6	30128486	30128486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagtaggggactcctccagGtctgggcctggtatctcaca	8	9	12	12	0	2	0	1	0	2	0	5	1	4	1	3	5	0	2	3	5	3	2			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr6:30128486G>T	ENST00000449742.2	-	1	225	c.150C>A	c.(148-150)gaC>gaA	p.D50E	TRIM15_ENST00000376694.4_5'Flank|TRIM15_ENST00000376688.1_5'Flank|TRIM10_ENST00000376704.3_Missense_Mutation_p.D50E	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	50					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						ACTCCTCCAGGTCTGGGCCTG	0.612																																						ENST00000449742.2																			0				ovary(1)	1						c.(148-150)gaC>gaA		tripartite motif containing 10							135	142	140					6																	30128486		2203	4300	6503	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30128486G>T	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.150C>A	6.37:g.30128486G>T	ENSP00000397073:p.Asp50Glu					TRIM10_ENST00000376704.3_Missense_Mutation_p.D50E	p.D50E	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN			1	225	-			50					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.150C>A	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	G	2.821	-0.244880	0.05906	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.63255	-0.03;0.16	5.23	-3.59	0.04583	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.500915	0.18211	N	0.148185	T	0.10981	0.0268	N	0.17312	0.475	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.13407	0.009;0.009	T	0.28554	-1.0040	10	0.06891	T	0.86	.	2.0066	0.03478	0.1457:0.2821:0.3242:0.248	.	50;50	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	E	50	ENSP00000397073:D50E;ENSP00000365894:D50E	ENSP00000365894:D50E	D	-	3	2	TRIM10	30236465	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.717000	0.01876	-0.712000	0.04988	0.549000	0.68633	GAC		0.612	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			33	127	1	0	2.42023e-17	1	2.73591e-17	33	127					T	30128486	G	T	30128486	3	4	466	1	0	0	0	0	1	0	0	0	16483	1252	44	5	1411	5	TRIM10	6	30128486	Missense_Mutation	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08		30128486	140986581	23	31537											
TTBK1	84630	broad.mit.edu	37	chr6	43251409	43251409	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggagggggcccgagcGcccctggagaacggcctcgc	6	3	19	13	4	0	1	0	0	0	1	1	5	0	3	4	6	2	0	4	6	1	0			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr6:43251409G>A	ENST00000259750.4	+	14	3014	c.2931G>A	c.(2929-2931)gcG>gcA	p.A977A		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	977					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGGCCCGAGCGCCCCTGGAGA	0.697																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2929-2931)gcG>gcA		tau tubulin kinase 1							21	26	24					6																	43251409		2200	4296	6496	SO:0001819	synonymous_variant	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43251409G>A	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2931G>A	6.37:g.43251409G>A							p.A977A	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		14	3014	+			977					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	c.2931G>A	CCDS34455.1																																																																																				0.697	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			10	39	0	0	0	1	0	10	39					A	43251409	G	A	43251409	2	1	466	1	0	0	0	0	0	0	0	1	16673	1074	38	1		1	TTBK1	6	43251409	Silent	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08	13122923	43251409	127863658	24	31538											
SLC22A3	6581	broad.mit.edu	37	chr6	160857879	160857879	+	Frame_Shift_Del	DEL	G	G	-																															ggtgagaactccccaaatgaGgaaatgcacacttattctta																										TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr6:160857879delG	ENST00000275300.2	+	6	1195	c.1043delG	c.(1042-1044)aggfs	p.R348fs	SLC22A3_ENST00000392145.1_Frame_Shift_Del_p.R348fs	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	348					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	CCCCAAATGAGGAAATGCACA	0.353																																						ENST00000392145.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1042-1044)agfs		solute carrier family 22 (organic cation transporter), member 3							120	109	113					6																	160857879		2203	4300	6503	SO:0001589	frameshift_variant	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160857879delG	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"Solute carriers"	10967	protein-coding gene	gene with protein product		604842	"solute carrier family 22 (extraneuronal monoamine transporter), member 3"			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1043delG	6.37:g.160857879delG	ENSP00000275300:p.Arg348fs					SLC22A3_ENST00000275300.2_Frame_Shift_Del_p.R348fs	p.R348fs			O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	6	1070	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	348					Q5SYN6|Q9UP02	Frame_Shift_Del	DEL	ENST00000275300.2	37	c.1043delG	CCDS5277.1																																																																																				0.353	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		13	63						13	63	---	---	---	---	-	160857879	G	-	160857879	7	5	466	1	0	1	0	1	0	0	0	0	14455	1000	35	0	1065	0	SLC22A3	6	160857879	Frame_Shift_Del	DEL	G	TCGA-YL-A8SQ-01B-11D-A377-08	117606470	160857879	10257188	25	31539											
DNAH11	8701	broad.mit.edu	37	chr7	21920441	21920441	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagggctggagccgaagctAtccttttaatcctggagacc	9	9	11	12	1	0	1	0	0	0	1	2	4	2	2	5	3	2	2	5	3	3	3			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr7:21920441A>G	ENST00000409508.3	+	75	12348	c.12317A>G	c.(12316-12318)tAt>tGt	p.Y4106C	DNAH11_ENST00000328843.6_Missense_Mutation_p.Y4113C	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4113	AAA 6. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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						AGCCGAAGCTATCCTTTTAAT	0.483									Kartagener syndrome																													ENST00000328843.6																			0				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						c.(12337-12339)tAt>tGt		dynein, axonemal, heavy chain 11							87	86	86					7																	21920441		1864	4099	5963	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21920441A>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.12317A>G	7.37:g.21920441A>G	ENSP00000475939:p.Tyr4106Cys					DNAH11_ENST00000409508.3_Missense_Mutation_p.Y4106C	p.Y4113C			Q96DT5	DYH11_HUMAN			76	12369	+			4113			AAA 6 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.12338A>G		.	.	.	.	.	.	.	.	.	.	A	17.50	3.405937	0.62288	.	.	ENSG00000105877	ENST00000328843	T	0.25579	1.79	5.66	5.66	0.87406	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58713	-0.7588	9	0.87932	D	0	.	15.9009	0.79377	1.0:0.0:0.0:0.0	.	4113	Q96DT5	DYH11_HUMAN	C	4113	ENSP00000330671:Y4113C	ENSP00000330671:Y4113C	Y	+	2	0	DNAH11	21886966	1.000000	0.71417	0.944000	0.38274	0.527000	0.34593	5.242000	0.65389	2.173000	0.68751	0.533000	0.62120	TAT		0.483	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		12	80	0	0	0	1	0	12	80					G	21920441	A	G	21920441	3	3	466	1	0	0	0	0	1	0	0	0	4599	449	16	4	12637	4	DNAH11	7	21920441	Missense_Mutation	SNP	A	TCGA-YL-A8SQ-01B-11D-A377-08		21920441	137218222	26	31540											
SORBS3	10174	broad.mit.edu	37	chr8	22426717	22426717	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccgacctaccaggtgctGgagtatggagaggctgtggc	7	7	15	12	1	0	1	0	0	0	1	0	4	0	2	4	5	2	3	4	5	2	2			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr8:22426717G>A	ENST00000240123.7	+	17	1745	c.1362G>A	c.(1360-1362)ctG>ctA	p.L454L	RP11-582J16.3_ENST00000517384.1_RNA|SORBS3_ENST00000523740.1_3'UTR|SORBS3_ENST00000428103.1_Silent_p.L112L	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	454	Binds to vinculin.|SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		ACCAGGTGCTGGAGTATGGAG	0.607																																						ENST00000240123.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18						c.(1360-1362)ctG>ctA		sorbin and SH3 domain containing 3							72	64	67					8																	22426717		2203	4300	6503	SO:0001819	synonymous_variant	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22426717G>A		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.1362G>A	8.37:g.22426717G>A						SORBS3_ENST00000523740.1_3'UTR|SORBS3_ENST00000428103.1_Silent_p.L112L	p.L454L	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	17	1745	+		Prostate(55;0.0421)|Breast(100;0.102)	454			Binds to vinculin.|SH3 2.		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Silent	SNP	ENST00000240123.7	37	c.1362G>A	CCDS6031.1	.	.	.	.	.	.	.	.	.	.	G	9.928	1.214041	0.22289	.	.	ENSG00000120896	ENST00000521554	.	.	.	5.25	3.25	0.37280	.	.	.	.	.	T	0.58821	0.2149	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52852	-0.8520	4	.	.	.	-3.4933	9.2687	0.37657	0.1865:0.0:0.8135:0.0	.	.	.	.	R	126	.	.	G	+	1	0	SORBS3	22482662	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.530000	0.45641	0.586000	0.29626	0.563000	0.77884	GGA		0.607	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		14	72	0	0	0	1	0	14	72					A	22426717	G	A	22426717	2	1	466	1	0	0	0	0	0	0	0	1	14929	1335	47	3		3	SORBS3	8	22426717	Silent	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08		22426717	123937305	27	31541											
BAI1	575	broad.mit.edu	37	chr8	143614792	143614792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgactcgctggagggcttcGtcatcgtcatggtgcactgt	5	12	13	11	4	2	0	2	0	0	0	6	2	2	1	0	3	1	3	0	3	0	1			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr8:143614792G>A	ENST00000517894.1	+	25	4429	c.3535G>A	c.(3535-3537)Gtc>Atc	p.V1179I	BAI1_ENST00000323289.5_Missense_Mutation_p.V1179I			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1179					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V1179I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGAGGGCTTCGTCATCGTCAT	0.672																																						ENST00000517894.1																			1	Substitution - Missense(1)	p.V1179I(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3535-3537)Gtc>Atc		brain-specific angiogenesis inhibitor 1							38	47	44					8																	143614792		2183	4285	6468	SO:0001583	missense	575				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	g.chr8:143614792G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3535G>A	8.37:g.143614792G>A	ENSP00000430945:p.Val1179Ile					BAI1_ENST00000323289.5_Missense_Mutation_p.V1179I	p.V1179I			O14514	BAI1_HUMAN			25	4429	+	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)		1179						Missense_Mutation	SNP	ENST00000517894.1	37	c.3535G>A		.	.	.	.	.	.	.	.	.	.	G	19.07	3.755605	0.69648	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.48201	0.82;0.82	4.47	4.47	0.54385	.	0.081910	0.48767	U	0.000174	T	0.37156	0.0993	L	0.41710	1.295	0.49798	D	0.999826	P	0.44139	0.827	B	0.34931	0.192	T	0.33904	-0.9850	10	0.37606	T	0.19	.	16.4734	0.84124	0.0:0.0:1.0:0.0	.	1179	E9PBK0	.	I	1179	ENSP00000430945:V1179I;ENSP00000313046:V1179I	ENSP00000313046:V1179I	V	+	1	0	BAI1	143611794	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	4.351000	0.59398	2.179000	0.69175	0.655000	0.94253	GTC		0.672	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		14	52	0	0	0	1	0	14	52					A	143614792	G	A	143614792	3	1	466	1	0	0	0	0	1	0	0	0	1298	1145	40	1	3629	1	BAI1	8	143614792	Missense_Mutation	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08	121188075	143614792	2749230	28	31542											
TNFSF15	9966	broad.mit.edu	37	chr9	117552950	117552950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctgttaccttggtgatgaCcacagtgatggagtctggct	7	13	13	8	0	2	3	0	3	2	0	2	4	2	4	2	3	1	2	2	3	1	2			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr9:117552950C>T	ENST00000374045.4	-	4	651	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	AL390240.1_ENST00000408807.1_RNA|TNFSF15_ENST00000374044.1_Missense_Mutation_p.V103I	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	180					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TTGGTGATGACCACAGTGATG	0.522																																						ENST00000374045.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						c.(538-540)Gtc>Atc		tumor necrosis factor (ligand) superfamily, member 15							231	181	198					9																	117552950		2203	4300	6503	SO:0001583	missense	9966				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117552950C>T	AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"Tumor necrosis factor (ligand) superfamily"	11931	protein-coding gene	gene with protein product	"vascular endothelial cell growth inhibitor", "TNF superfamily ligand TL1A", "TNF ligand-related molecule 1", "vascular endothelial growth inhibitor-192A"	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.538G>A	9.37:g.117552950C>T	ENSP00000363157:p.Val180Ile					TNFSF15_ENST00000374044.1_Missense_Mutation_p.V103I	p.V180I	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN			4	651	-			180					Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Missense_Mutation	SNP	ENST00000374045.4	37	c.538G>A	CCDS6809.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638835	0.29157	.	.	ENSG00000181634	ENST00000374045;ENST00000374044	T;T	0.63580	-0.05;-0.05	6.03	1.65	0.23941	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.706519	0.14104	N	0.341219	T	0.44222	0.1283	N	0.25825	0.765	0.24919	N	0.992	B;B	0.12013	0.005;0.001	B;B	0.20184	0.028;0.008	T	0.27905	-1.0060	10	0.32370	T	0.25	-25.4202	5.9951	0.19489	0.0:0.4108:0.1417:0.4475	.	180;121	O95150;O95150-2	TNF15_HUMAN;.	I	180;103	ENSP00000363157:V180I;ENSP00000363156:V103I	ENSP00000363156:V103I	V	-	1	0	TNFSF15	116592771	0.863000	0.29885	0.766000	0.31476	0.994000	0.84299	0.502000	0.22594	0.362000	0.24319	-0.211000	0.12701	GTC		0.522	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055424.2	NM_005118		11	48	0	0	0	1	0	11	48					T	117552950	C	T	117552950	3	4	466	1	0	0	0	0	1	0	0	0	16305	507	18	3	221	3	TNFSF15	9	117552950	Missense_Mutation	SNP	C	TCGA-YL-A8SQ-01B-11D-A377-08		117552950	23660481	29	31543											
PPAPDC3	84814	broad.mit.edu	37	chr9	134165483	134165483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccccccaaggggggcccGgagccccgcagctcgggcag	6	1	16	18	3	0	0	0	0	0	0	1	1	0	1	6	5	3	3	6	5	1	0			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr9:134165483G>A	ENST00000372264.3	+	1	403	c.99G>A	c.(97-99)ccG>ccA	p.P33P	PPAPDC3_ENST00000372261.1_Silent_p.P33P	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	33					negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		AGGGGGGCCCGGAGCCCCGCA	0.711																																						ENST00000372264.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(97-99)ccG>ccA		phosphatidic acid phosphatase type 2 domain containing 3							12	14	13					9																	134165483		2186	4274	6460	SO:0001819	synonymous_variant	84814					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	g.chr9:134165483G>A	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 67"	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.99G>A	9.37:g.134165483G>A						PPAPDC3_ENST00000372261.1_Silent_p.P33P	p.P33P	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	1	403	+	all_hematologic(7;0.0119)		33					Q5T6P0|Q96SS7|Q9BRC3	Silent	SNP	ENST00000372264.3	37	c.99G>A	CCDS6942.1																																																																																				0.711	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		3	34	0	0	0	1	0	3	34					A	134165483	G	A	134165483	2	1	466	1	0	0	0	0	0	0	0	1	12296	1103	39	2		2	PPAPDC3	9	134165483	Silent	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08	16612533	134165483	7047948	30	31544											
HERC4	26091	broad.mit.edu	37	chr10	69748522	69748522	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtagagtttcaaaagatgTaccacaacttccttaaaaag	16	12	6	7	0	1	2	1	0	0	2	2	2	2	2	2	0	2	3	2	0	8	6			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr10:69748522T>G	ENST00000395198.3	-	15	1951	c.1704A>C	c.(1702-1704)gtA>gtC	p.V568V	HERC4_ENST00000373700.4_Silent_p.V568V|HERC4_ENST00000412272.2_Silent_p.V568V|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Silent_p.V458V	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	568					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TCAAAAGATGTACCACAACTT	0.328																																						ENST00000395198.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						c.(1702-1704)gtA>gtC		HECT and RLD domain containing E3 ubiquitin protein ligase 4							115	125	122					10																	69748522		2203	4293	6496	SO:0001819	synonymous_variant	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69748522T>G	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"hect domain and RLD 4"			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.1704A>C	10.37:g.69748522T>G						HERC4_ENST00000277817.6_Silent_p.V458V|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Silent_p.V568V|HERC4_ENST00000412272.2_Silent_p.V568V	p.V568V	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN			15	1951	-			568					Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Silent	SNP	ENST00000395198.3	37	c.1704A>C	CCDS41533.1																																																																																				0.328	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		5	143	0	0	0	1	0	5	143					G	69748522	T	G	69748522	2	3	466	1	0	0	0	0	0	0	0	1	7060	1625	57	5		5	HERC4	10	69748522	Silent	SNP	T	TCGA-YL-A8SQ-01B-11D-A377-08		69748522	65786225	31	31545											
C11orf9	745	broad.mit.edu	37	chr11	61533649	61533649	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccttcccggggggcacCgggccccccatcaaggctga	7	4	13	17	2	1	1	1	1	0	0	2	1	2	1	6	5	1	2	6	5	2	1			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr11:61533649C>T	ENST00000278836.5	+	3	450	c.354C>T	c.(352-354)acC>acT	p.T118T	TMEM258_ENST00000535042.1_5'Flank|MYRF_ENST00000265460.5_Silent_p.T109T	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	118	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CGGGGGGCACCGGGCCCCCCA	0.697																																						ENST00000278836.5																			0											c.(352-354)acC>acT		myelin regulatory factor							16	20	19					11																	61533649		2090	4124	6214	SO:0001819	synonymous_variant	745							g.chr11:61533649C>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.354C>T	11.37:g.61533649C>T						MYRF_ENST00000265460.5_Silent_p.T109T	p.T118T	NM_001127392.1	NP_001120864.1					3	450	+								O43582|Q9P1Q6	Silent	SNP	ENST00000278836.5	37	c.354C>T	CCDS44622.1																																																																																				0.697	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		6	34	0	0	0	1	0	6	34					T	61533649	C	T	61533649	2	4	466	1	0	0	0	0	0	0	0	1	1671	639	23	2		2	C11orf9	11	61533649	Silent	SNP	C	TCGA-YL-A8SQ-01B-11D-A377-08		61533649	73472867	32	31546											
LRFN4	78999	broad.mit.edu	37	chr11	66625250	66625251	+	Frame_Shift_Del	DEL	GT	GT	-																															cctgctgctgctgctggccaGtggagcggccgcctgcccgc																										TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr11:66625250_66625251delGT	ENST00000309602.4	+	1	278_279	c.35_36delGT	c.(34-36)agtfs	p.S12fs	PC_ENST00000393958.2_Intron|LRFN4_ENST00000531590.1_3'UTR|PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Frame_Shift_Del_p.S12fs|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	12						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CTGCTGGCCAGTGGAGCGGCCG	0.713																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(34-36)afs		leucine rich repeat and fibronectin type III domain containing 4																																				SO:0001589	frameshift_variant	78999					integral to membrane		g.chr11:66625250_66625251delGT	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28456	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 6"	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.35_36delGT	11.37:g.66625250_66625251delGT	ENSP00000312535:p.Ser12fs					LRFN4_ENST00000393952.3_Frame_Shift_Del_p.S12fs|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000531590.1_3'UTR|PC_ENST00000393955.2_Intron	p.S12fs	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			1	278_279	+			12					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Frame_Shift_Del	DEL	ENST00000309602.4	37	c.35_36delGT	CCDS8153.1																																																																																				0.713	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		12	20						12	20	---	---	---	---	-	66625251	GT	-	66625250	7	5	466	1	0	1	0	1	0	0	0	0	8940	1029	36	0	37	0	LRFN4	11	66625250	Frame_Shift_Del	DEL	GT	TCGA-YL-A8SQ-01B-11D-A377-08	5091601	66625250	68381266	33	31547											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238580	71238580	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccaaggggggctgtggCtcttgtgggggttctaaggg	4	10	20	7	0	2	0	0	0	2	0	3	0	3	0	1	8	0	4	1	8	2	3	rs12271719		TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr11:71238580C>T	ENST00000398536.4	+	1	268	c.234C>T	c.(232-234)ggC>ggT	p.G78G		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	78	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GGGGCTGTGGCTCTTGTGGGG	0.642																																						ENST00000398536.4																			0				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(232-234)ggC>ggT		keratin associated protein 5-7							72	99	90					11																	71238580		2199	4294	6493	SO:0001819	synonymous_variant	440050					keratin filament		g.chr11:71238580C>T	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"Keratin associated proteins"	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.234C>T	11.37:g.71238580C>T							p.G78G	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	268	+			78			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Silent	SNP	ENST00000398536.4	37	c.234C>T	CCDS41682.1																																																																																				0.642	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			5	220	0	0	0	1	0	5	220					T	71238580	C	T	71238580	2	4	466	1	0	0	0	0	0	0	0	1	8566	784	28	3		3	KRTAP5-7	11	71238580	Silent	SNP	C	TCGA-YL-A8SQ-01B-11D-A377-08	4613330	71238580	63767936	34	31548											
NFRKB	4798	broad.mit.edu	37	chr11	129752042	129752042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atagaagagagaagaagctgGaagatatttcattgattcca	17	10	10	4	0	1	6	1	1	0	5	2	8	2	7	1	1	1	1	1	1	6	5	rs555836314		TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr11:129752042G>A	ENST00000446488.3	-	10	1233	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F	NFRKB_ENST00000524746.1_Missense_Mutation_p.S377F|NFRKB_ENST00000304521.5_Missense_Mutation_p.S377F|NFRKB_ENST00000524794.1_Missense_Mutation_p.S402F	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	377	Winged-helix like domain.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GAAGAAGCTGGAAGATATTTC	0.418											OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0	0	5008	,	,		20135	0		0	False		,,,				2504	0.001					ENST00000446488.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(1129-1131)tCc>tTc		nuclear factor related to kappaB binding protein																																				SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129752042G>A		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"INO80 complex subunits"	7802	protein-coding gene	gene with protein product	"nuclear factor related to kappa B binding protein", "DNA-binding protein R kappa B", "INO80 complex subunit G"	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.1130C>T	11.37:g.129752042G>A	ENSP00000400476:p.Ser377Phe		OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1574	NFRKB_ENST00000524746.1_Missense_Mutation_p.S377F|NFRKB_ENST00000304521.5_Missense_Mutation_p.S377F|NFRKB_ENST00000524794.1_Missense_Mutation_p.S402F	p.S377F	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	10	1233	-	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)	377					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.1130C>T	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104773	0.56291	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	5.85	4.92	0.64577	.	0.349316	0.34178	N	0.004186	T	0.46171	0.1379	N	0.19112	0.55	0.38288	D	0.942625	P;P;D;P	0.58268	0.926;0.926;0.982;0.956	B;B;P;B	0.46796	0.247;0.247;0.527;0.43	T	0.56153	-0.8026	9	0.59425	D	0.04	-12.3889	16.859	0.86013	0.0:0.1285:0.8715:0.0	.	389;377;377;402	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	F	377;377;402;377;389	.	ENSP00000303800:S377F	S	-	2	0	NFRKB	129257252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.032000	0.57274	1.433000	0.47394	0.655000	0.94253	TCC		0.418	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		5	35	0	0	0	1	0	5	35					A	129752042	G	A	129752042	3	1	466	1	0	0	0	0	1	0	0	0	10384	1174	41	3	2837	3	NFRKB	11	129752042	Missense_Mutation	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08	58513462	129752042	5254474	35	31549											
MLL2	8085	broad.mit.edu	37	chr12	49434497	49434497	+	Frame_Shift_Del	DEL	T	T	-																															gccaaagcctgggcagggggTggctcctggggccttaggcc																										TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr12:49434497delT	ENST00000301067.7	-	31	7055	c.7056delA	c.(7054-7056)ccafs	p.P2354fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2354	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGGCAGGGGGTGGCTCCTGGG	0.612																																						ENST00000301067.7																			0											c.(7054-7056)ccfs		lysine (K)-specific methyltransferase 2D							24	30	28					12																	49434497		1900	4079	5979	SO:0001589	frameshift_variant	8085							g.chr12:49434497delT	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7056delA	12.37:g.49434497delT	ENSP00000301067:p.Pro2354fs						p.P2354fs	NM_003482.3	NP_003473.3					31	7055	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.7056delA	CCDS44873.1																																																																																				0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			16	28						16	28	---	---	---	---	-	49434497	T	-	49434497	7	5	466	1	0	1	0	1	0	0	0	0	9621	1683	59	0	9653	0	MLL2	12	49434497	Frame_Shift_Del	DEL	T	TCGA-YL-A8SQ-01B-11D-A377-08		49434497	84417398	36	31550											
B4GALNT1	2583	broad.mit.edu	37	chr12	58020538	58020538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggccatcactgggaggTcatgcactgcagccggtgtt	7	8	15	11	2	2	0	2	0	0	0	2	1	2	1	2	4	4	3	2	4	0	1			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr12:58020538T>C	ENST00000341156.4	-	11	2175	c.1591A>G	c.(1591-1593)Acc>Gcc	p.T531A	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.T476A	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	531					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			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)			CACTGGGAGGTCATGCACTGC	0.592																																						ENST00000341156.4																			0				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						c.(1591-1593)Acc>Gcc		beta-1,4-N-acetyl-galactosaminyl transferase 1							144	126	132					12																	58020538		2203	4300	6503	SO:0001583	missense	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58020538T>C	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1591A>G	12.37:g.58020538T>C	ENSP00000341562:p.Thr531Ala					B4GALNT1_ENST00000418555.2_Missense_Mutation_p.T476A	p.T531A	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		11	2175	-	Melanoma(17;0.122)		531					B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	c.1591A>G	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	16.15	3.042862	0.55003	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.20598	2.06;2.17	4.6	4.6	0.57074	.	0.057904	0.64402	D	0.000002	T	0.17746	0.0426	L	0.45228	1.405	0.80722	D	1	B;P	0.48294	0.363;0.908	B;B	0.38616	0.138;0.277	T	0.02966	-1.1088	10	0.33940	T	0.23	-17.653	13.42	0.60992	0.0:0.0:0.0:1.0	.	476;531	B4DE26;Q00973	.;B4GN1_HUMAN	A	531;476	ENSP00000341562:T531A;ENSP00000401601:T476A	ENSP00000341562:T531A	T	-	1	0	B4GALNT1	56306805	1.000000	0.71417	0.986000	0.45419	0.574000	0.36063	2.934000	0.48956	2.083000	0.62718	0.383000	0.25322	ACC		0.592	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		22	153	0	0	0	1	0	22	153					C	58020538	T	C	58020538	3	2	466	1	0	0	0	0	1	0	0	0	1266	1667	58	4	14	4	B4GALNT1	12	58020538	Missense_Mutation	SNP	T	TCGA-YL-A8SQ-01B-11D-A377-08	8586041	58020538	75831357	37	31551											
CHST11	50515	broad.mit.edu	37	chr12	105151184	105151184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatcatcaaacgccagcGgaagaacgccacccaggagg	15	2	11	13	3	2	2	2	0	0	2	2	4	2	4	3	3	3	0	3	3	4	0			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr12:105151184G>A	ENST00000303694.5	+	3	1101	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	CHST11_ENST00000549260.1_Missense_Mutation_p.R216Q	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	221					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						AAACGCCAGCGGAAGAACGCC	0.577																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(661-663)cGg>cAg		carbohydrate (chondroitin 4) sulfotransferase 11							125	107	113					12																	105151184		2203	4300	6503	SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105151184G>A	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.662G>A	12.37:g.105151184G>A	ENSP00000305725:p.Arg221Gln					CHST11_ENST00000549260.1_Missense_Mutation_p.R216Q	p.R221Q	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			3	1101	+			221					A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.662G>A	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265638	0.95399	.	.	ENSG00000171310	ENST00000549260;ENST00000303694	T;T	0.76448	-1.02;-1.02	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.90024	0.6885	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	D	0.91073	0.4894	10	0.62326	D	0.03	-23.4003	19.2155	0.93776	0.0:0.0:1.0:0.0	.	216;221	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	Q	216;221	ENSP00000450004:R216Q;ENSP00000305725:R221Q	ENSP00000305725:R221Q	R	+	2	0	CHST11	103675314	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.553000	0.86117	0.655000	0.94253	CGG		0.577	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		5	63	0	0	0	1	0	5	63					A	105151184	G	A	105151184	3	1	466	1	0	0	0	0	1	0	0	0	3399	1116	39	2	672	2	CHST11	12	105151184	Missense_Mutation	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08	47130646	105151184	28700711	38	31552											
CDH24	64403	broad.mit.edu	37	chr14	23518460	23518461	+	Frame_Shift_Ins	INS	-	-	A																															gggtggagcagggcgggaggINSgcagcagcaggctggcggag																										TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr14:23518460_23518461insA	ENST00000267383.5	-	11	1827_1828	c.1735_1736insT	c.(1735-1737)cccfs	p.P579fs	CDH24_ENST00000397359.3_Frame_Shift_Ins_p.P579fs|CDH24_ENST00000487137.2_Frame_Shift_Ins_p.P541fs|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Frame_Shift_Ins_p.P541fs			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	579	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGGGCGGGAGGGCAGCAGCAGG	0.634																																						ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(1735-1737)ctcfs		cadherin 24, type 2																																				SO:0001589	frameshift_variant	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23518460_23518461insA	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	14265	protein-coding gene	gene with protein product			"cadherin-like 24"			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1735_1736insT	14.37:g.23518460_23518461insA	ENSP00000267383:p.Pro579fs					CDH24_ENST00000487137.2_Frame_Shift_Ins_p.L541fs|CDH24_ENST00000267383.5_Frame_Shift_Ins_p.L579fs|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Frame_Shift_Ins_p.L541fs	p.L579fs	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	12	1994_1995	-	all_cancers(95;3.3e-05)		579			Cadherin 5.		D3DS44|Q86UP1|Q9NT84	Frame_Shift_Ins	INS	ENST00000267383.5	37	c.1735_1736insT	CCDS9585.1																																																																																				0.634	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		2	4						2	4	---	---	---	---	A	23518461	-	A	23518460	7	5	466	1	0	1	1	0	0	0	0	0	3109	1232	43	0	731	0	CDH24	14	23518460	Frame_Shift_Ins	INS	-	TCGA-YL-A8SQ-01B-11D-A377-08		23518460	83831080	39	31553											
CDH16	1014	broad.mit.edu	37	chr16	66944233	66944233	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgaagctgtagggaccGtgcccactggccagatcggg	8	6	17	10	2	0	2	0	1	0	1	1	3	0	3	3	4	2	2	3	4	2	1	rs147628216		TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr16:66944233G>A	ENST00000299752.4	-	15	2290	c.2097C>T	c.(2095-2097)caC>caT	p.H699H	CDH16_ENST00000570262.1_Silent_p.H619H|CDH16_ENST00000394055.3_Silent_p.H677H|CDH16_ENST00000568632.1_Silent_p.H602H|CDH16_ENST00000565796.1_Silent_p.H660H	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	699	Ectodomain G.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGTAGGGACCGTGCCCACTGG	0.627																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2095-2097)caC>caT		cadherin 16, KSP-cadherin		G	,,,	3,4397	6.2+/-15.9	0,3,2197	118	118	118		2031,1980,1806,2097	-8.5	0	16	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CDH16	NM_001204744.1,NM_001204745.1,NM_001204746.1,NM_004062.3	,,,	0,4,6496	AA,AG,GG		0.0116,0.0682,0.0308	,,,	677/808,660/791,602/733,699/830	66944233	4,12996	2200	4300	6500	SO:0001819	synonymous_variant	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66944233G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.2097C>T	16.37:g.66944233G>A						CDH16_ENST00000570262.1_Silent_p.H619H|CDH16_ENST00000568632.1_Silent_p.H602H|CDH16_ENST00000394055.3_Silent_p.H677H|CDH16_ENST00000565796.1_Silent_p.H660H	p.H699H	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	15	2290	-		Ovarian(137;0.0563)	699			Ectodomain G.		B4DPA8|H3BPD3|Q6UW93	Silent	SNP	ENST00000299752.4	37	c.2097C>T	CCDS10823.1																																																																																				0.627	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		18	53	0	0	0	1	0	18	53					A	66944233	G	A	66944233	2	1	466	1	0	0	0	0	0	0	0	1	3101	1136	40	1		1	CDH16	16	66944233	Silent	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08		66944233	23410520	40	31554											
PELP1	27043	broad.mit.edu	37	chr17	4580059	4580059	+	Frame_Shift_Del	DEL	G	G	-																															gccctttacctgttggagctGagggctcaaggcatccaccc																										TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr17:4580059delG	ENST00000574876.1	-	6	708	c.691delC	c.(691-693)cagfs	p.Q231fs	AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000269230.7_Frame_Shift_Del_p.Q231fs|PELP1_ENST00000572293.1_Frame_Shift_Del_p.Q281fs|PELP1_ENST00000436683.2_Frame_Shift_Del_p.Q84fs|PELP1_ENST00000301396.4_Frame_Shift_Del_p.Q231fs			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	231					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TGTTGGAGCTGAGGGCTCAAG	0.567																																						ENST00000301396.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(691-693)agfs		proline, glutamate and leucine rich protein 1							41	40	41					17																	4580059		1957	4136	6093	SO:0001589	frameshift_variant	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4580059delG		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"proline, glutamic acid and leucine rich protein 1"			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.691delC	17.37:g.4580059delG	ENSP00000461625:p.Gln231fs					AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_Frame_Shift_Del_p.Q84fs|PELP1_ENST00000269230.7_Frame_Shift_Del_p.Q231fs|PELP1_ENST00000574876.1_Frame_Shift_Del_p.Q231fs|PELP1_ENST00000572293.1_Frame_Shift_Del_p.Q281fs	p.Q231fs			Q8IZL8	PELP1_HUMAN			6	916	-			231					O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Frame_Shift_Del	DEL	ENST00000574876.1	37	c.691delC	CCDS58503.1																																																																																				0.567	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		2	4						2	4	---	---	---	---	-	4580059	G	-	4580059	7	5	466	1	0	1	0	1	0	0	0	0	11725	1299	45	0	2749	0	PELP1	17	4580059	Frame_Shift_Del	DEL	G	TCGA-YL-A8SQ-01B-11D-A377-08		4580059	76615151	41	31555											
RAB5C	5878	broad.mit.edu	37	chr17	40280287	40280287	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcatctccccacctggaattCcacggctctcttgctggcca	6	11	7	17	1	3	0	1	0	2	0	6	1	4	1	5	3	1	2	5	3	1	2			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr17:40280287C>G	ENST00000346213.4	-	4	645	c.433G>C	c.(433-435)Gaa>Caa	p.E145Q	RAB5C_ENST00000547517.1_Missense_Mutation_p.E178Q|RAB5C_ENST00000393860.3_Missense_Mutation_p.E145Q|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.E145Q	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	145					endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		ACCTGGAATTCCACGGCTCTC	0.622																																						ENST00000393860.3																			0				large_intestine(1)|lung(4)|prostate(1)|skin(1)	7						c.(433-435)Gaa>Caa		RAB5C, member RAS oncogene family							118	100	106					17																	40280287		2203	4300	6503	SO:0001583	missense	5878				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:40280287C>G	U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"RAB, member RAS oncogene"	9785	protein-coding gene	gene with protein product	"RAB, member of RAS oncogene family-like", "RAB5C, member of RAS oncogene family"	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.433G>C	17.37:g.40280287C>G	ENSP00000345689:p.Glu145Gln					RAB5C_ENST00000547517.1_Missense_Mutation_p.E178Q|RAB5C_ENST00000346213.4_Missense_Mutation_p.E145Q|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.E145Q	p.E145Q	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	5	749	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	145					F8W1H5|Q6FH55|Q9P0Y5	Missense_Mutation	SNP	ENST00000346213.4	37	c.433G>C	CCDS11419.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563942	0.65651	.	.	ENSG00000108774	ENST00000346213;ENST00000393860;ENST00000547517	T;T;T	0.77229	-1.08;-1.08;-1.08	5.3	5.3	0.74995	Small GTP-binding protein domain (1);	0.046101	0.85682	D	0.000000	T	0.61362	0.2341	N	0.04373	-0.215	0.80722	D	1	B;B	0.27166	0.009;0.17	B;B	0.28849	0.016;0.095	T	0.58250	-0.7669	10	0.24483	T	0.36	-23.2974	19.1532	0.93499	0.0:1.0:0.0:0.0	.	178;145	F8W1H5;P51148	.;RAB5C_HUMAN	Q	145;145;178	ENSP00000345689:E145Q;ENSP00000377440:E145Q;ENSP00000447053:E178Q	ENSP00000345689:E145Q	E	-	1	0	RAB5C	37533813	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.622000	0.83099	2.769000	0.95229	0.655000	0.94253	GAA		0.622	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405509.1	NM_004583		10	42	0	0	0	1	0	10	42					G	40280287	C	G	40280287	3	3	466	1	0	0	0	0	1	0	0	0	12950	864	30	5	229	5	RAB5C	17	40280287	Missense_Mutation	SNP	C	TCGA-YL-A8SQ-01B-11D-A377-08	35700228	40280287	40914923	42	31556											
RPTOR	57521	broad.mit.edu	37	chr17	78854264	78854264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggccacaagtacttcctgtCggtcctggcggacccctaca	7	8	10	16	3	0	0	0	0	0	0	3	1	2	1	5	4	2	1	5	4	3	3			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr17:78854264C>T	ENST00000306801.3	+	14	1921	c.1559C>T	c.(1558-1560)tCg>tTg	p.S520L	RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	520					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TACTTCCTGTCGGTCCTGGCG	0.627																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(1558-1560)tCg>tTg		regulatory associated protein of MTOR, complex 1							104	72	83					17																	78854264		2203	4300	6503	SO:0001583	missense	57521				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	g.chr17:78854264C>T		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1559C>T	17.37:g.78854264C>T	ENSP00000307272:p.Ser520Leu					RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	p.S520L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			14	1921	+			520					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.1559C>T	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953927	0.92660	.	.	ENSG00000141564	ENST00000306801	T	0.36157	1.27	4.87	4.87	0.63330	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.45034	0.1322	M	0.61703	1.905	0.80722	D	1	D	0.63880	0.993	P	0.47470	0.548	T	0.44003	-0.9356	10	0.39692	T	0.17	.	18.3771	0.90439	0.0:1.0:0.0:0.0	.	520	Q8N122	RPTOR_HUMAN	L	520	ENSP00000307272:S520L	ENSP00000307272:S520L	S	+	2	0	RPTOR	76468859	1.000000	0.71417	0.023000	0.16930	0.927000	0.56198	7.233000	0.78125	2.398000	0.81561	0.563000	0.77884	TCG		0.627	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		19	41	0	0	0	1	0	19	41					T	78854264	C	T	78854264	3	4	466	1	0	0	0	0	1	0	0	0	13665	893	31	2	1613	2	RPTOR	17	78854264	Missense_Mutation	SNP	C	TCGA-YL-A8SQ-01B-11D-A377-08	38573977	78854264	2340946	43	31557											
CDH19	28513	broad.mit.edu	37	chr18	64235830	64235830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatcgctcctctctatcaaGcttctgtatggcatatatgt	8	15	8	10	1	3	0	1	0	2	0	6	1	4	1	1	2	1	4	1	2	5	5			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr18:64235830G>A	ENST00000540086.1	-	3	559	c.313C>T	c.(313-315)Ctt>Ttt	p.L105F	CDH19_ENST00000262150.2_Missense_Mutation_p.L105F	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	213	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCTCTATCAAGCTTCTGTATG	0.433																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(313-315)Ctt>Ttt		cadherin 19, type 2							134	129	130					18																	64235830		2203	4299	6502	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64235830G>A	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.313C>T	18.37:g.64235830G>A	ENSP00000439593:p.Leu105Phe					CDH19_ENST00000540086.1_Missense_Mutation_p.L105F	p.L105F	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			3	605	-		Esophageal squamous(42;0.0132)	105			Cadherin 1.		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.313C>T	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611025	0.46631	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.74737	-0.87;-0.87	5.87	5.87	0.94306	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85936	0.5813	M	0.78916	2.43	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86957	0.2089	10	0.87932	D	0	.	14.3906	0.66975	0.0724:0.0:0.9276:0.0	.	105;105	F5H1K0;Q9H159	.;CAD19_HUMAN	F	105;105;50	ENSP00000262150:L105F;ENSP00000439593:L105F	ENSP00000262150:L105F	L	-	1	0	CDH19	62386810	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.436000	0.59948	2.785000	0.95823	0.591000	0.81541	CTT		0.433	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		4	78	0	0	0	1	0	4	78					A	64235830	G	A	64235830	3	1	466	1	0	0	0	0	1	0	0	0	3104	971	34	3	2045	3	CDH19	18	64235830	Missense_Mutation	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08		64235830	13841418	44	31558											
ZNF616	90317	broad.mit.edu	37	chr19	52619830	52619830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattaataaggctggaagacGctttaaaggctttgccacat	13	11	10	7	1	0	1	0	0	0	1	0	3	0	2	1	3	1	3	1	3	5	5			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr19:52619830G>A	ENST00000600228.1	-	4	848	c.587C>T	c.(586-588)gCg>gTg	p.A196V	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		GCTGGAAGACGCTTTAAAGGC	0.388																																						ENST00000600228.1																			0				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						c.(586-588)gCg>gTg		zinc finger protein 616							161	152	155					19																	52619830		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619830G>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.587C>T	19.37:g.52619830G>A	ENSP00000471000:p.Ala196Val					ZNF616_ENST00000330123.5_3'UTR	p.A196V	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	848	-			196					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.587C>T	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	G	0.071	-1.202200	0.01581	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-0.178	0.13303	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13457	0.0326	N	0.03268	-0.37	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.32666	-0.9898	8	0.15499	T	0.54	.	6.2372	0.20770	0.0:0.0:0.2638:0.7362	.	196	Q08AN1	ZN616_HUMAN	V	196	.	ENSP00000328722:A196V	A	-	2	0	ZNF616	57311642	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.317000	0.02707	-0.077000	0.12752	-0.856000	0.03024	GCG		0.388	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		7	114	0	0	0	1	0	7	114					A	52619830	G	A	52619830	3	1	466	1	0	0	0	0	1	0	0	0	18038	1087	38	1	1762	1	ZNF616	19	52619830	Missense_Mutation	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08		52619830	6509153	45	31559											
ZNF845	91664	broad.mit.edu	37	chr19	53854634	53854634	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttaaggaaacatcagataAtccatttaggagcgaaacaa	18	9	7	7	1	2	1	1	0	1	1	3	4	3	3	1	2	3	0	1	2	6	4			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr19:53854634A>T	ENST00000595091.1	+	5	925	c.706A>T	c.(706-708)Atc>Ttc	p.I236F	ZNF845_ENST00000458035.1_Missense_Mutation_p.I236F			Q96IR2	ZN845_HUMAN	zinc finger protein 845	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACATCAGATAATCCATTTAGG	0.373																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(706-708)Atc>Ttc		zinc finger protein 845							92	77	82					19																	53854634		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854634A>T	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.706A>T	19.37:g.53854634A>T	ENSP00000470005:p.Ile236Phe					ZNF845_ENST00000595091.1_Missense_Mutation_p.I236F	p.I236F	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	823	+			236						Missense_Mutation	SNP	ENST00000595091.1	37	c.706A>T	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859679	0.32884	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.18338	2.22	1.91	-0.771	0.11002	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29061	0.0722	M	0.66939	2.045	0.09310	N	1	D	0.59357	0.985	P	0.61477	0.889	T	0.12218	-1.0556	9	0.52906	T	0.07	.	4.2666	0.10766	0.6693:0.2006:0.1301:0.0	.	236	Q96IR2	ZN845_HUMAN	F	236	ENSP00000388311:I236F	ENSP00000412086:I236F	I	+	1	0	ZNF845	58546446	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.132000	0.15891	-0.502000	0.06596	-1.231000	0.01572	ATC		0.373	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		7	57	0	0	0	1	0	7	57					T	53854634	A	T	53854634	3	4	466	1	0	0	0	0	1	0	0	0	18188	101	4	5	716	5	ZNF845	19	53854634	Missense_Mutation	SNP	A	TCGA-YL-A8SQ-01B-11D-A377-08	1234804	53854634	5274349	46	31560											
FAM83F	113828	broad.mit.edu	37	chr22	40417338	40417338	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagaaacctcctcctgcTcctgacaggacagaacgtag	12	6	10	13	1	0	3	0	1	0	2	3	5	3	5	4	2	3	2	4	2	3	1			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr22:40417338T>C	ENST00000333407.6	+	4	918	c.824T>C	c.(823-825)cTc>cCc	p.L275P	FAM83F_ENST00000473717.1_Missense_Mutation_p.L107P	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	275										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTCCTCCTGCTCCTGACAGGA	0.602																																						ENST00000333407.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						c.(823-825)cTc>cCc		family with sequence similarity 83, member F							121	131	128					22																	40417338		2203	4300	6503	SO:0001583	missense	113828							g.chr22:40417338T>C		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.824T>C	22.37:g.40417338T>C	ENSP00000330432:p.Leu275Pro					FAM83F_ENST00000473717.1_3'UTR	p.L275P	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN			4	918	+			275					Q96FD6	Missense_Mutation	SNP	ENST00000333407.6	37	c.824T>C	CCDS14000.2	.	.	.	.	.	.	.	.	.	.	T	19.80	3.894273	0.72639	.	.	ENSG00000133477	ENST00000333407	T	0.15718	2.4	4.94	4.94	0.65067	.	0.066666	0.64402	D	0.000014	T	0.29126	0.0724	L	0.60455	1.87	0.80722	D	1	D	0.53885	0.963	P	0.54629	0.757	T	0.01894	-1.1252	10	0.66056	D	0.02	-36.0005	10.6569	0.45680	0.1432:0.0:0.0:0.8568	.	275	Q8NEG4	FA83F_HUMAN	P	275	ENSP00000330432:L275P	ENSP00000330432:L275P	L	+	2	0	FAM83F	38747284	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	6.031000	0.70911	2.071000	0.62044	0.459000	0.35465	CTC		0.602	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		14	148	0	0	0	1	0	14	148					C	40417338	T	C	40417338	3	2	466	1	0	0	0	0	1	0	0	0	5638	1551	54	4	838	4	FAM83F	22	40417338	Missense_Mutation	SNP	T	TCGA-YL-A8SQ-01B-11D-A377-08		40417338	10887228	47	31561											
KDM6A	7403	broad.mit.edu	37	chrX	44945222	44945222	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttctgaatgacttctgtgaAaagtaggtttccaaagtaaa	14	13	9	5	0	2	3	0	3	2	0	3	3	3	3	1	1	0	4	1	1	7	5			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chrX:44945222A>G	ENST00000377967.4	+	24	3587	c.3546A>G	c.(3544-3546)gaA>gaG	p.E1182E	KDM6A_ENST00000382899.4_Silent_p.E1189E|KDM6A_ENST00000536777.1_Silent_p.E1137E|KDM6A_ENST00000543216.1_Silent_p.E1103E	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1182	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACTTCTGTGAAAAGTAGGTTT	0.358			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		7	Whole gene deletion(6)|Unknown(1)	p.0?(6)|p.?(1)	oesophagus(2)|breast(2)|pancreas(2)|central_nervous_system(1)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(3544-3546)gaA>gaG		lysine (K)-specific demethylase 6A							133	114	120					X																	44945222		2203	4300	6503	SO:0001819	synonymous_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44945222A>G	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3546A>G	X.37:g.44945222A>G						KDM6A_ENST00000543216.1_Silent_p.E1103E|KDM6A_ENST00000536777.1_Silent_p.E1137E|KDM6A_ENST00000382899.4_Silent_p.E1189E	p.E1182E	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			24	3587	+			1182			JmjC.		Q52LL9|Q5JVQ7	Silent	SNP	ENST00000377967.4	37	c.3546A>G	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181925	0.38511	.	.	ENSG00000147050	ENST00000414389;ENST00000433797	.	.	.	5.67	4.31	0.51392	.	.	.	.	.	T	0.61602	0.2360	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60260	-0.7298	4	.	.	.	-16.4457	11.1997	0.48734	0.9145:0.0:0.0855:0.0	.	.	.	.	E	780;825	.	.	K	+	1	0	KDM6A	44830166	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.959000	0.70339	1.895000	0.54865	0.486000	0.48141	AAA		0.358	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		9	35	0	0	0	1	0	9	35					G	44945222	A	G	44945222	2	3	466	1	0	0	0	0	0	0	0	1	8137	11	1	4		4	KDM6A	23	44945222	Silent	SNP	A	TCGA-YL-A8SQ-01B-11D-A377-08		44945222	110325338	48	31562											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-																															ctggttgggtttgcacttcaTcctcgaggcagcctcctcga																								rs78182391		TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			4	3						4	3	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	466	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-YL-A8SQ-01B-11D-A377-08	6294074	51239296	104031264	49	31563											
SAGE1	55511	broad.mit.edu	37	chrX	134988207	134988207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgtcactcacaatatccGtgaagagagaatggaaaatg	16	8	9	8	2	2	3	2	1	0	2	3	5	3	4	2	1	1	0	2	1	7	2	rs201111165		TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chrX:134988207G>A	ENST00000370709.3	+	5	479	c.479G>A	c.(478-480)cGt>cAt	p.R160H	SAGE1_ENST00000535938.1_Missense_Mutation_p.R160H|SAGE1_ENST00000324447.3_Missense_Mutation_p.R160H|SAGE1_ENST00000537770.1_Intron			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	160						nucleus (GO:0005634)				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)					CACAATATCCGTGAAGAGAGA	0.463													N|||	1	0.000264901	0	0	3775	,	,		16324	0		0.001	False		,,,				2504	0					ENST00000535938.1																			0				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						c.(478-480)cGt>cAt		sarcoma antigen 1							101	87	92					X																	134988207		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134988207G>A	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.479G>A	X.37:g.134988207G>A	ENSP00000359743:p.Arg160His					SAGE1_ENST00000324447.3_Missense_Mutation_p.R160H|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.R160H	p.R160H	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			6	646	+	Acute lymphoblastic leukemia(192;0.000127)		160					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.479G>A	CCDS14652.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	6.613	0.481483	0.12581	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.39787	1.06;1.06;1.06	1.38	-1.87	0.07737	.	0.081713	0.45606	N	0.000351	T	0.14657	0.0354	N	0.12182	0.205	0.09310	N	1	P	0.38745	0.645	B	0.29598	0.104	T	0.40590	-0.9555	10	0.16420	T	0.52	.	6.3125	0.21173	0.7823:0.0:0.2177:0.0	.	160	Q9NXZ1	SAGE1_HUMAN	H	160	ENSP00000323191:R160H;ENSP00000445959:R160H;ENSP00000359743:R160H	ENSP00000323191:R160H	R	+	2	0	SAGE1	134815873	0.410000	0.25376	0.003000	0.11579	0.002000	0.02628	0.156000	0.16382	-1.288000	0.02378	-2.702000	0.00136	CGT		0.463	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		3	58	0	0	0	1	0	3	58					A	134988207	G	A	134988207	3	1	466	1	0	0	0	0	1	0	0	0	13809	1145	40	1	497	1	SAGE1	23	134988207	Missense_Mutation	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08	83748911	134988207	20282353	50	31564											
NOL9	79707	broad.mit.edu	37	chr1	6592683	6592683	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcatcttggtcttgctttTtgtgtacaagccatccatgt	6	18	7	10	0	3	0	1	0	3	0	5	0	4	0	2	1	3	2	2	1	2	5			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr1:6592683T>A	ENST00000377705.5	-	8	1407	c.1375A>T	c.(1375-1377)Aaa>Taa	p.K459*		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	459					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GTCTTGCTTTTTGTGTACAAG	0.463																																						ENST00000377705.5																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19						c.(1375-1377)Aaa>Taa		nucleolar protein 9							206	203	204					1																	6592683		2203	4300	6503	SO:0001587	stop_gained	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6592683T>A	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"polynucleotide 5'-kinase"					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1375A>T	1.37:g.6592683T>A	ENSP00000366934:p.Lys459*						p.K459*	NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN		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)	8	1407	-	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)	459					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Nonsense_Mutation	SNP	ENST00000377705.5	37	c.1375A>T	CCDS80.1	.	.	.	.	.	.	.	.	.	.	T	38	6.778147	0.97833	.	.	ENSG00000162408	ENST00000377705	.	.	.	6.04	6.04	0.98038	.	0.344464	0.31358	N	0.007785	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.8246	14.5284	0.67905	0.0:0.0:0.0:1.0	.	.	.	.	X	459	.	ENSP00000366934:K459X	K	-	1	0	NOL9	6515270	0.996000	0.38824	0.182000	0.23118	0.926000	0.56050	5.304000	0.65744	2.317000	0.78254	0.459000	0.35465	AAA		0.463	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		8	119	0	0	0	1	0	8	119					A	6592683	T	A	6592683	4	1	467	1	0	0	0	0	0	1	0	0	10528	1850	64	5	753	5	NOL9	1	6592683	Nonsense_Mutation	SNP	T	TCGA-YL-A8SR-01B-11D-A377-08		6592683	242657938	1	31565											
AADACL4	343066	broad.mit.edu	37	chr1	12721809	12721809	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttgtcttgcagattgttaCcatggcctgtgcaattatct	7	18	8	8	0	2	1	0	0	2	1	2	1	2	1	2	1	3	3	2	1	3	6			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr1:12721809C>G	ENST00000376221.1	+	3	393	c.393C>G	c.(391-393)taC>taG	p.Y131*		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	131						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CAGATTGTTACCATGGCCTGT	0.527																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(391-393)taC>taG		arylacetamide deacetylase-like 4							256	241	246					1																	12721809		2203	4300	6503	SO:0001587	stop_gained	343066					integral to membrane	carboxylesterase activity	g.chr1:12721809C>G		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.393C>G	1.37:g.12721809C>G	ENSP00000365395:p.Tyr131*						p.Y131*	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		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)	3	393	+	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)	131						Nonsense_Mutation	SNP	ENST00000376221.1	37	c.393C>G	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635871	0.47049	.	.	ENSG00000204518	ENST00000376221	.	.	.	3.86	2.94	0.34122	.	0.406531	0.25117	N	0.033014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0106	11.4002	0.49866	0.0:0.8166:0.1834:0.0	.	.	.	.	X	131	.	ENSP00000365395:Y131X	Y	+	3	2	AADACL4	12644396	0.008000	0.16893	0.088000	0.20740	0.041000	0.13682	0.008000	0.13197	1.193000	0.43086	0.561000	0.74099	TAC		0.527	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		11	86	0	0	0	1	0	11	86					G	12721809	C	G	12721809	4	3	467	1	0	0	0	0	0	1	0	0	13	518	18	5	403	5	AADACL4	1	12721809	Nonsense_Mutation	SNP	C	TCGA-YL-A8SR-01B-11D-A377-08	6129126	12721809	236528812	2	31566											
C1orf87	127795	broad.mit.edu	37	chr1	60520927	60520927	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgttagtagtttctggttGttttctgatttctggttgtt	3	23	10	5	0	3	1	0	1	3	0	3	1	3	1	1	2	0	7	1	2	2	9			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr1:60520927G>C	ENST00000371201.3	-	3	398	c.291C>G	c.(289-291)aaC>aaG	p.N97K	C1orf87_ENST00000450089.2_Missense_Mutation_p.N97K	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	97							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GTTTCTGGTTGTTTTCTGATT	0.393																																					NSCLC(75;811 1386 4923 13371 51772)	ENST00000371201.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(289-291)aaC>aaG		chromosome 1 open reading frame 87							344	324	331					1																	60520927		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60520927G>C	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.291C>G	1.37:g.60520927G>C	ENSP00000360244:p.Asn97Lys					C1orf87_ENST00000450089.2_Missense_Mutation_p.N97K	p.N97K	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN			3	398	-			97					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.291C>G	CCDS614.1	.	.	.	.	.	.	.	.	.	.	G	9.208	1.030184	0.19512	.	.	ENSG00000162598	ENST00000371201;ENST00000450089	T	0.18174	2.23	3.17	2.23	0.28157	.	0.799463	0.11159	N	0.593259	T	0.13072	0.0317	L	0.40543	1.245	0.09310	N	0.999995	P	0.36535	0.557	B	0.33750	0.169	T	0.18304	-1.0341	10	0.49607	T	0.09	.	6.607	0.22731	0.1364:0.0:0.8636:0.0	.	97	Q8N0U7	CA087_HUMAN	K	97	ENSP00000360244:N97K	ENSP00000360244:N97K	N	-	3	2	C1orf87	60293515	0.003000	0.15002	0.008000	0.14137	0.022000	0.10575	0.848000	0.27710	0.895000	0.36342	0.591000	0.81541	AAC		0.393	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		50	145	0	0	0	1	0	50	145					C	60520927	G	C	60520927	3	2	467	1	0	0	0	0	1	0	0	0	2064	1368	48	5	1389	5	C1orf87	1	60520927	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08	47799118	60520927	188729694	3	31567											
FAM89A	375061	broad.mit.edu	37	chr1	231155679	231155679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgacaagtcccgaggagggCctcggtccctcctgtcgtgc	5	8	14	14	3	0	1	0	1	0	0	5	3	3	2	4	3	1	0	4	3	1	0			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr1:231155679C>T	ENST00000366654.4	-	2	519	c.485G>A	c.(484-486)gGc>gAc	p.G162D	MIR1182_ENST00000408363.1_RNA|FAM89A_ENST00000494111.1_5'UTR	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	162										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCGAGGAGGGCCTCGGTCCCT	0.577																																						ENST00000366654.4																			0				endometrium(1)|upper_aerodigestive_tract(1)	2						c.(484-486)gGc>gAc		family with sequence similarity 89, member A							80	78	79					1																	231155679		2203	4300	6503	SO:0001583	missense	375061							g.chr1:231155679C>T	BC009447	CCDS1590.1	1q42.2	2008-02-05	2005-09-13	2005-09-13	ENSG00000182118	ENSG00000182118			25057	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 153"	C1orf153		12477932	Standard	NM_198552		Approved	MGC15887	uc001hui.2	Q96GI7	OTTHUMG00000037960	ENST00000366654.4:c.485G>A	1.37:g.231155679C>T	ENSP00000355614:p.Gly162Asp					FAM89A_ENST00000494111.1_5'UTR	p.G162D	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN			2	519	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	162						Missense_Mutation	SNP	ENST00000366654.4	37	c.485G>A	CCDS1590.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566721	0.86439	.	.	ENSG00000182118	ENST00000366654	.	.	.	5.6	3.71	0.42584	.	0.569513	0.16504	N	0.211516	T	0.35682	0.0940	L	0.47716	1.5	0.09310	N	0.999999	B	0.15141	0.012	B	0.16722	0.016	T	0.26292	-1.0107	9	0.07990	T	0.79	-6.7445	9.1537	0.36978	0.0:0.7216:0.0:0.2784	.	162	Q96GI7	FA89A_HUMAN	D	162	.	ENSP00000355614:G162D	G	-	2	0	FAM89A	229222302	0.010000	0.17322	0.007000	0.13788	0.977000	0.68977	1.230000	0.32612	1.509000	0.48786	0.453000	0.30009	GGC		0.577	FAM89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092652.1	NM_198552		13	16	0	0	0	1	0	13	16					T	231155679	C	T	231155679	3	4	467	1	0	0	0	0	1	0	0	0	5647	739	26	3	73	3	FAM89A	1	231155679	Missense_Mutation	SNP	C	TCGA-YL-A8SR-01B-11D-A377-08	170634752	231155679	18094942	4	31568											
POLR1A	25885	broad.mit.edu	37	chr2	86327179	86327179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagtcctgcacgcaggtgGagcacacctctttggaatct	9	10	11	11	1	2	1	0	1	2	0	3	3	3	3	2	3	2	3	2	3	2	1			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr2:86327179G>T	ENST00000263857.6	-	2	572	c.194C>A	c.(193-195)tCc>tAc	p.S65Y	POLR1A_ENST00000409681.1_Missense_Mutation_p.S65Y			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	65					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CACGCAGGTGGAGCACACCTC	0.557																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(193-195)tCc>tAc		polymerase (RNA) I polypeptide A, 194kDa							88	92	91					2																	86327179		1996	4178	6174	SO:0001583	missense	25885				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	g.chr2:86327179G>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.194C>A	2.37:g.86327179G>T	ENSP00000263857:p.Ser65Tyr					POLR1A_ENST00000409681.1_Missense_Mutation_p.S65Y	p.S65Y			O95602	RPA1_HUMAN			2	572	-			65					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.194C>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323564	0.81580	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.24151	1.87;1.87	5.78	5.78	0.91487	RNA polymerase Rpb1, domain 1 (1);	0.156649	0.64402	D	0.000016	T	0.49064	0.1535	M	0.79258	2.445	0.54753	D	0.999986	P;P	0.51147	0.855;0.942	P;P	0.54312	0.579;0.748	T	0.48625	-0.9019	10	0.62326	D	0.03	-13.8907	19.9976	0.97389	0.0:0.0:1.0:0.0	.	65;65	B9ZVN9;O95602	.;RPA1_HUMAN	Y	65	ENSP00000263857:S65Y;ENSP00000386300:S65Y	ENSP00000263857:S65Y	S	-	2	0	POLR1A	86180690	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.360000	0.79487	2.737000	0.93849	0.563000	0.77884	TCC		0.557	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		3	39	1	0	0.115264	1	0.115264	3	39					T	86327179	G	T	86327179	3	4	467	1	0	0	0	0	1	0	0	0	12209	1174	41	5	5100	5	POLR1A	2	86327179	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08		86327179	156872194	5	31569											
ERBB4	2066	broad.mit.edu	37	chr2	212530061	212530061	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttacccttgggtgcagtTtggatggcatgggtggcact	5	13	15	8	0	0	0	0	0	0	0	0	1	0	1	1	5	3	5	1	5	1	3			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr2:212530061T>C	ENST00000342788.4	-	15	2168	c.1858A>G	c.(1858-1860)Aac>Gac	p.N620D	ERBB4_ENST00000402597.1_Missense_Mutation_p.N620D|ERBB4_ENST00000436443.1_Missense_Mutation_p.N620D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	620	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			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)	Afatinib(DB08916)	TGGGTGCAGTTTGGATGGCAT	0.478										TSP Lung(8;0.080)																												ENST00000342788.4																			0				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						c.(1858-1860)Aac>Gac		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							149	130	137					2																	212530061		2203	4300	6503	SO:0001583	missense	2066				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	g.chr2:212530061T>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1858A>G	2.37:g.212530061T>C	ENSP00000342235:p.Asn620Asp	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Missense_Mutation_p.N620D|ERBB4_ENST00000402597.1_Missense_Mutation_p.N620D	p.N620D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		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)	15	2168	-		Renal(323;0.06)|Lung NSC(271;0.197)	620			Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.1858A>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.878426	0.91740	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.86497	-2.13;-2.13;-2.13	5.56	5.56	0.83823	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	L	0.56280	1.765	0.80722	D	1	P;P;P;P;P	0.51351	0.526;0.944;0.909;0.755;0.641	B;P;P;B;B	0.49999	0.251;0.628;0.626;0.251;0.127	D	0.89897	0.4041	10	0.87932	D	0	.	15.7153	0.77663	0.0:0.0:0.0:1.0	.	620;620;479;620;620	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	D	620	ENSP00000342235:N620D;ENSP00000403204:N620D;ENSP00000385565:N620D	ENSP00000342235:N620D	N	-	1	0	ERBB4	212238306	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.033000	0.88852	2.127000	0.65507	0.533000	0.62120	AAC		0.478	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		21	51	0	0	0	1	0	21	51					C	212530061	T	C	212530061	3	2	467	1	0	0	0	0	1	0	0	0	5209	1841	64	4	2124	4	ERBB4	2	212530061	Missense_Mutation	SNP	T	TCGA-YL-A8SR-01B-11D-A377-08	126202882	212530061	30669312	6	31570											
CIDEC	63924	broad.mit.edu	37	chr3	9911609	9911609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgcagatcataggaaaGggagtatgtatcataaaaag	17	8	12	4	0	2	1	2	0	0	1	2	3	2	3	0	2	1	4	0	2	7	4			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr3:9911609G>A	ENST00000336832.2	-	5	650	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	CIDEC_ENST00000430427.1_Missense_Mutation_p.L181F|CIDEC_ENST00000423850.1_Missense_Mutation_p.L97F|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000455015.1_Missense_Mutation_p.L97F|CIDEC_ENST00000443115.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	171					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					TCATAGGAAAGGGAGTATGTA	0.512																																						ENST00000336832.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8						c.(511-513)Ctt>Ttt		cell death-inducing DFFA-like effector c							93	84	87					3																	9911609		2203	4300	6503	SO:0001583	missense	63924				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus		g.chr3:9911609G>A		CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.511C>T	3.37:g.9911609G>A	ENSP00000338642:p.Leu171Phe					CIDEC_ENST00000430427.1_Missense_Mutation_p.L181F|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000423850.1_Missense_Mutation_p.L97F|CIDEC_ENST00000455015.1_Missense_Mutation_p.L97F|CIDEC_ENST00000383817.1_Intron	p.L171F	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN			5	650	-	Medulloblastoma(99;0.227)		171					C9JMN7|Q67DW9|Q9GZY9	Missense_Mutation	SNP	ENST00000336832.2	37	c.511C>T	CCDS2587.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768720	0.49680	.	.	ENSG00000187288	ENST00000336832;ENST00000455015;ENST00000423850;ENST00000430427	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.89	1.89	0.25635	.	0.283478	0.34435	N	0.003970	T	0.81626	0.4862	M	0.71581	2.175	0.80722	D	1	P;D	0.56035	0.883;0.974	P;P	0.55577	0.621;0.779	T	0.78186	-0.2302	10	0.72032	D	0.01	-4.1972	2.3823	0.04357	0.1548:0.2847:0.4135:0.147	.	171;181	Q96AQ7;C9JMN7	CIDEC_HUMAN;.	F	171;97;97;181	ENSP00000338642:L171F;ENSP00000392975:L97F;ENSP00000400649:L97F;ENSP00000408631:L181F	ENSP00000338642:L171F	L	-	1	0	CIDEC	9886609	0.994000	0.37717	0.933000	0.37362	0.425000	0.31504	1.341000	0.33907	0.388000	0.25054	0.655000	0.94253	CTT		0.512	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		3	45	0	0	0	1	0	3	45					A	9911609	G	A	9911609	3	1	467	1	0	0	0	0	1	0	0	0	3427	1000	35	3	213	3	CIDEC	3	9911609	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08		9911609	188110821	7	31571											
XIRP1	165904	broad.mit.edu	37	chr3	39225734	39225734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggggactggctgagggagGggcaggttcaggttgcacag	8	6	20	7	0	1	1	1	1	0	0	1	3	1	3	0	8	1	5	0	8	0	2			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr3:39225734G>T	ENST00000340369.3	-	2	5431	c.5203C>A	c.(5203-5205)Cct>Act	p.P1735T	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.P418T	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1735	Interaction with FLNC.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCTGAGGGAGGGGCAGGTTCA	0.587																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(5203-5205)Cct>Act		xin actin-binding repeat containing 1							102	94	97					3																	39225734		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39225734G>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.5203C>A	3.37:g.39225734G>T	ENSP00000343140:p.Pro1735Thr					XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.P418T	p.P1735T	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	5431	-			1735			Interaction with FLNC.		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.5203C>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	0.067	-1.210360	0.01555	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.18657	3.94;2.2	3.56	2.68	0.31781	.	7.120940	0.01047	U	0.004403	T	0.17577	0.0422	L	0.38175	1.15	0.09310	N	1	B	0.18461	0.028	B	0.14578	0.011	T	0.19386	-1.0307	10	0.20046	T	0.44	.	4.4517	0.11624	0.1195:0.0:0.6604:0.2201	.	1735	Q702N8	XIRP1_HUMAN	T	1735;418	ENSP00000343140:P1735T;ENSP00000391645:P418T	ENSP00000343140:P1735T	P	-	1	0	XIRP1	39200738	0.068000	0.21057	0.003000	0.11579	0.003000	0.03518	3.816000	0.55658	0.860000	0.35481	-0.136000	0.14681	CCT		0.587	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		6	94	1	0	0.0215528	1	0.022054	6	94					T	39225734	G	T	39225734	3	4	467	1	0	0	0	0	1	0	0	0	17426	1232	43	5	332	5	XIRP1	3	39225734	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08	29314125	39225734	158796696	8	31572											
ATP13A4	84239	broad.mit.edu	37	chr3	193183888	193183888	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaggcacaggaggaaccTgatggcatccctgtacaact	13	7	10	11	0	0	1	0	1	0	0	1	3	1	3	2	4	4	3	2	4	5	2			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr3:193183888T>G	ENST00000342695.4	-	11	1520	c.1198A>C	c.(1198-1200)Agg>Cgg	p.R400R	ATP13A4_ENST00000295548.3_Silent_p.R400R|ATP13A4_ENST00000392443.3_Silent_p.R400R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	400						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGGAGGAACCTGATGGCATCC	0.448																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(1198-1200)Agg>Cgg		ATPase type 13A4							255	234	241					3																	193183888		2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193183888T>G	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1198A>C	3.37:g.193183888T>G						ATP13A4_ENST00000392443.3_Silent_p.R400R|ATP13A4_ENST00000295548.3_Silent_p.R400R	p.R400R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	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)	11	1520	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		400					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.1198A>C	CCDS3304.2																																																																																				0.448	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		32	119	0	0	0	1	0	32	119					G	193183888	T	G	193183888	2	3	467	1	0	0	0	0	0	0	0	1	1126	1579	55	5		5	ATP13A4	3	193183888	Silent	SNP	T	TCGA-YL-A8SR-01B-11D-A377-08	153958154	193183888	4838542	9	31573											
C4orf29	80167	broad.mit.edu	37	chr4	128930134	128930134	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagacctgtatgcattcatcTtgctggaacaggagatcatg	11	12	10	8	0	3	2	2	0	1	2	3	4	3	3	1	2	3	3	1	2	3	4			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr4:128930134T>G	ENST00000444616.1	+	5	585	c.338T>G	c.(337-339)cTt>cGt	p.L113R	C4orf29_ENST00000398965.1_Missense_Mutation_p.L113R|C4orf29_ENST00000388795.5_Missense_Mutation_p.L31R			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	113						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TGCATTCATCTTGCTGGAACA	0.299																																						ENST00000388795.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(91-93)cTt>cGt		chromosome 4 open reading frame 29							89	82	84					4																	128930134		1840	4095	5935	SO:0001583	missense	80167					extracellular region		g.chr4:128930134T>G	AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.338T>G	4.37:g.128930134T>G	ENSP00000397229:p.Leu113Arg					C4orf29_ENST00000398965.1_Missense_Mutation_p.L113R|C4orf29_ENST00000444616.1_Missense_Mutation_p.L113R	p.L31R			Q0P651	CD029_HUMAN			5	495	+			113					A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	ENST00000444616.1	37	c.92T>G		.	.	.	.	.	.	.	.	.	.	T	22.3	4.272228	0.80580	.	.	ENSG00000164074	ENST00000454347;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758	.	.	.	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000002	T	0.80904	0.4713	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84599	0.0671	9	0.87932	D	0	-19.4939	15.1875	0.73016	0.0:0.0:0.0:1.0	.	113	Q0P651	CD029_HUMAN	R	113;113;113;31;31	.	ENSP00000373447:L31R	L	+	2	0	C4orf29	129149584	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.692000	0.68256	2.040000	0.60383	0.528000	0.53228	CTT		0.299	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1	NM_001039717		11	26	0	0	0	1	0	11	26					G	128930134	T	G	128930134	3	3	467	1	0	0	0	0	1	0	0	0	2259	1609	56	5	352	5	C4orf29	4	128930134	Missense_Mutation	SNP	T	TCGA-YL-A8SR-01B-11D-A377-08		128930134	62224142	10	31574											
RANBP9	10048	broad.mit.edu	37	chr6	13711707	13711709	+	In_Frame_Del	DEL	GCG	GCG	-																															ctgctgctgttgctgctgctGcggcggcggcggcggcggct																										TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr6:13711707_13711709delGCG	ENST00000011619.3	-	1	87_89	c.29_31delCGC	c.(28-33)ccgcag>cag	p.P10del		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			tgctgctgctgcggcggcggcgg	0.764																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(28-33)cag>c		RAN binding protein 9																																				SO:0001651	inframe_deletion	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13711707_13711709delGCG	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"Ran Binding Protein in the Microtubule organizing center"	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.29_31delCGC	6.37:g.13711716_13711718delGCG	ENSP00000011619:p.Pro10del						p.PQ10del	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		1	87_89	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	10			Poly-Pro.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	In_Frame_Del	DEL	ENST00000011619.3	37	c.29_31delCGC	CCDS4529.1																																																																																				0.764	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			4	6						4	6	---	---	---	---	-	13711709	GCG	-	13711707	7	5	467	1	0	1	0	1	0	0	0	0	13032	1328	46	0	2214	0	RANBP9	6	13711707	In_Frame_Del	DEL	GCG	TCGA-YL-A8SR-01B-11D-A377-08		13711707	157403360	11	31575											
PNLDC1	154197	broad.mit.edu	37	chr6	160225011	160225011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttataggtatatagcccattCttgtaacttctatctcttcc	9	18	4	10	0	3	0	0	0	3	0	5	0	4	0	2	1	2	2	2	1	7	11	rs370436669		TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr6:160225011C>T	ENST00000610273.1	+	5	401	c.230C>T	c.(229-231)tCt>tTt	p.S77F	PNLDC1_ENST00000392167.3_Missense_Mutation_p.S88F|PNLDC1_ENST00000609334.1_3'UTR	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	77						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ATAGCCCATTCTTGTAACTTC	0.418																																						ENST00000275275.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(229-231)tCt>tTt		poly(A)-specific ribonuclease (PARN)-like domain containing 1							122	124	123					6																	160225011		2203	4300	6503	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160225011C>T	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.230C>T	6.37:g.160225011C>T	ENSP00000476448:p.Ser77Phe					PNLDC1_ENST00000392167.3_Missense_Mutation_p.S88F	p.S77F	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	5	401	+		Breast(66;0.00519)|Ovarian(120;0.123)	77					Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.230C>T	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646504	0.67358	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	T;T	0.23552	1.9;1.9	5.19	5.19	0.71726	Ribonuclease H-like (1);	0.000000	0.49305	D	0.000152	T	0.41558	0.1164	M	0.71036	2.16	0.32732	N	0.508813	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.981	T	0.43940	-0.9360	10	0.72032	D	0.01	.	15.8962	0.79336	0.0:1.0:0.0:0.0	.	88;77	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	F	77;88	ENSP00000275275:S77F;ENSP00000376007:S88F	ENSP00000275275:S77F	S	+	2	0	PNLDC1	160145001	0.992000	0.36948	0.015000	0.15790	0.749000	0.42624	3.207000	0.51106	2.411000	0.81874	0.655000	0.94253	TCT		0.418	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		43	69	0	0	0	1	0	43	69					T	160225011	C	T	160225011	3	4	467	1	0	0	0	0	1	0	0	0	12148	913	32	3	244	3	PNLDC1	6	160225011	Missense_Mutation	SNP	C	TCGA-YL-A8SR-01B-11D-A377-08	146513304	160225011	10890056	12	31576											
MLL3	58508	broad.mit.edu	37	chr7	151864240	151864249	+	Frame_Shift_Del	DEL	CTGTTTCTGA	CTGTTTCTGA	-																															ctatttattacctgttctagCtgtttctgaaccatgctttg																										TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr7:151864240_151864249delCTGTTTCTGA	ENST00000262189.6	-	42	9950_9959	c.9732_9741delTCAGAAACAG	c.(9730-9741)gttcagaaacagfs	p.VQKQ3244fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.VQKQ3244fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3244	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCTGTTCTAGCTGTTTCTGAACCATGCTTT	0.386																																						ENST00000355193.2																			0											c.(9730-9741)gtfs		lysine (K)-specific methyltransferase 2C																																				SO:0001589	frameshift_variant	58508							g.chr7:151864240_151864249delCTGTTTCTGA	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9732_9741delTCAGAAACAG	7.37:g.151864240_151864249delCTGTTTCTGA	ENSP00000262189:p.Val3244fs					KMT2C_ENST00000262189.6_Frame_Shift_Del_p.VQKQ3244fs	p.VQKQ3244fs							42	9950_9959	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.9732_9741delTCAGAAACAG	CCDS5931.1																																																																																				0.386	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			8	89						8	89	---	---	---	---	-	151864249	CTGTTTCTGA	-	151864240	7	5	467	1	0	1	0	1	0	0	0	0	9622	796	28	0	5066	0	MLL3	7	151864240	Frame_Shift_Del	DEL	CTGTTTCTGA	TCGA-YL-A8SR-01B-11D-A377-08		151864240	7274423	13	31577											
SNTG1	54212	broad.mit.edu	37	chr8	51617164	51617164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggttttcaccaggacaGtgacctgctggaccgacgga	9	8	12	12	2	1	1	1	1	0	0	2	5	2	4	4	4	1	2	4	4	0	2	rs529933112		TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr8:51617164G>A	ENST00000522124.1	+	16	1704	c.1043G>A	c.(1042-1044)aGt>aAt	p.S348N	SNTG1_ENST00000276467.5_Missense_Mutation_p.S348N|SNTG1_ENST00000517473.1_Missense_Mutation_p.S348N|SNTG1_ENST00000518864.1_Missense_Mutation_p.S348N	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	348	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CACCAGGACAGTGACCTGCTG	0.557													G|||	1	0.000199681	0	0.0014	5008	,	,		18621	0		0	False		,,,				2504	0					ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(1042-1044)aGt>aAt		syntrophin, gamma 1							134	112	120					8																	51617164		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51617164G>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1043G>A	8.37:g.51617164G>A	ENSP00000429842:p.Ser348Asn					SNTG1_ENST00000518864.1_Missense_Mutation_p.S348N|SNTG1_ENST00000517473.1_Missense_Mutation_p.S348N|SNTG1_ENST00000276467.5_Missense_Mutation_p.S348N	p.S348N	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			16	1704	+		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)	348			PH.		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.1043G>A	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063022	0.76187	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.33438	1.41;1.41;2.19;2.19	5.19	5.19	0.71726	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.037292	0.85682	D	0.000000	T	0.35770	0.0943	M	0.63843	1.955	0.58432	D	0.999999	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.004	T	0.12785	-1.0534	10	0.48119	T	0.1	.	18.0775	0.89432	0.0:0.0:1.0:0.0	.	348;348	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	N	348	ENSP00000429276:S348N;ENSP00000429842:S348N;ENSP00000431123:S348N;ENSP00000276467:S348N	ENSP00000276467:S348N	S	+	2	0	SNTG1	51779717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.745000	0.62125	2.577000	0.86979	0.643000	0.83706	AGT		0.557	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			4	76	0	0	0	1	0	4	76					A	51617164	G	A	51617164	3	1	467	1	0	0	0	0	1	0	0	0	14874	1029	36	3	1097	3	SNTG1	8	51617164	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08		51617164	94746858	14	31578											
ZNF7	7553	broad.mit.edu	37	chr8	146068408	146068409	+	Frame_Shift_Ins	INS	-	-	T																															ctgcatcagtgtgaagactgINStgagaagatatttaggtggc																										TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr8:146068408_146068409insT	ENST00000528372.1	+	5	2156_2157	c.1916_1917insT	c.(1915-1920)tgtgagfs	p.E640fs	ZNF7_ENST00000325241.6_Frame_Shift_Ins_p.E640fs|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000446747.2_Frame_Shift_Ins_p.E651fs|ZNF7_ENST00000544249.1_Frame_Shift_Ins_p.E544fs			P17097	ZNF7_HUMAN	zinc finger protein 7	640					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		TGTGAAGACTGTGAGAAGATAT	0.426																																						ENST00000528372.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1915-1917)tgafs		zinc finger protein 7																																				SO:0001589	frameshift_variant	7553				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146068408_146068409insT	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"Zinc fingers, C2H2-type", "-"	13139	protein-coding gene	gene with protein product		194531	"zinc finger protein 7 (KOX 4, clone HF.16)"			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.1917dupT	8.37:g.146068409_146068409dupT	ENSP00000432724:p.Glu640fs					ZNF7_ENST00000325241.6_Frame_Shift_Ins_p.*639fs|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000544249.1_Frame_Shift_Ins_p.*543fs|ZNF7_ENST00000446747.2_Frame_Shift_Ins_p.*650fs|ZNF7_ENST00000525266.1_Intron	p.*639fs			P17097	ZNF7_HUMAN	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)	5	2156_2157	+	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)	639					B4DT08|D3DWN6|P17015|Q8N8Y4	Frame_Shift_Ins	INS	ENST00000528372.1	37	c.1916_1917insT	CCDS6435.1																																																																																				0.426	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		12	112						12	112	---	---	---	---	T	146068409	-	T	146068408	7	5	467	1	0	1	1	0	0	0	0	0	18099	1377	48	0	1930	0	ZNF7	8	146068408	Frame_Shift_Ins	INS	-	TCGA-YL-A8SR-01B-11D-A377-08	94451244	146068408	295614	15	31579											
C10orf18	54906	broad.mit.edu	37	chr10	5781751	5781751	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctaaatatgttagccgatCtagcattaagctctgctact	11	13	6	11	1	2	0	0	0	2	0	2	1	2	0	2	0	5	4	2	0	7	6			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr10:5781751C>G	ENST00000328090.5	+	13	2243	c.1618C>G	c.(1618-1620)Cta>Gta	p.L540V	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	540																	GTTAGCCGATCTAGCATTAAG	0.418																																						ENST00000328090.5																			0											c.(1618-1620)Cta>Gta		family with sequence similarity 208, member B							121	112	115					10																	5781751		1908	4138	6046	SO:0001583	missense	54906							g.chr10:5781751C>G	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1618C>G	10.37:g.5781751C>G	ENSP00000328426:p.Leu540Val					RP11-336A10.2_ENST00000411512.2_RNA	p.L540V	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			13	2243	+			540					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.1618C>G	CCDS41485.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.01|15.01	2.706640|2.706640	0.48412|0.48412	.|.	.|.	ENSG00000108021|ENSG00000108021	ENST00000328090|ENST00000380270	D|.	0.96685|.	-4.09|.	5.59|5.59	3.75|3.75	0.43078|0.43078	.|.	0.000000|.	0.48767|.	D|.	0.000164|.	T|T	0.53690|0.53690	0.1812|0.1812	M|M	0.68952|0.68952	2.095|2.095	0.26220|0.26220	N|N	0.979178|0.979178	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.44726|0.44726	-0.9309|-0.9309	10|5	0.66056|.	D|.	0.02|.	.|.	9.9537|9.9537	0.41653|0.41653	0.0:0.8422:0.0:0.1578|0.0:0.8422:0.0:0.1578	.|.	540|.	Q5VWN6|.	F208B_HUMAN|.	V|C	540|238	ENSP00000328426:L540V|.	ENSP00000328426:L540V|.	L|S	+|+	1|2	2|0	C10orf18|C10orf18	5821757|5821757	0.787000|0.787000	0.28750|0.28750	0.321000|0.321000	0.25320|0.25320	0.397000|0.397000	0.30659|0.30659	1.329000|1.329000	0.33770|0.33770	0.723000|0.723000	0.32274|0.32274	0.491000|0.491000	0.48974|0.48974	CTA|TCT		0.418	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		29	77	0	0	0	1	0	29	77					G	5781751	C	G	5781751	3	3	467	1	0	0	0	0	1	0	0	0	1596	912	32	5	1656	5	C10orf18	10	5781751	Missense_Mutation	SNP	C	TCGA-YL-A8SR-01B-11D-A377-08		5781751	129752996	16	31580											
SYT13	57586	broad.mit.edu	37	chr11	45265636	45265636	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtgccacatggcaatctgCcggcgagggtttttgagcat	7	11	14	9	2	1	1	0	1	1	0	1	2	1	1	2	4	3	3	2	4	1	2			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr11:45265636C>T	ENST00000020926.3	-	6	1359	c.1248G>A	c.(1246-1248)cgG>cgA	p.R416R		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	416					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TGGCAATCTGCCGGCGAGGGT	0.632																																						ENST00000020926.3																			0				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						c.(1246-1248)cgG>cgA		synaptotagmin XIII							69	76	74					11																	45265636		2203	4299	6502	SO:0001819	synonymous_variant	57586					transport vesicle		g.chr11:45265636C>T	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"Synaptotagmins"	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.1248G>A	11.37:g.45265636C>T							p.R416R	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN			6	1359	-			416					A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Silent	SNP	ENST00000020926.3	37	c.1248G>A	CCDS31470.1																																																																																				0.632	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		3	61	0	0	0	1	0	3	61					T	45265636	C	T	45265636	2	4	467	1	0	0	0	0	0	0	0	1	15466	726	26	3		3	SYT13	11	45265636	Silent	SNP	C	TCGA-YL-A8SR-01B-11D-A377-08		45265636	89740880	17	31581											
OR4P4	81300	broad.mit.edu	37	chr11	55405907	55405907	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagaacattgaagtcctctGctttgtattatttttgtttt	9	21	6	5	0	1	2	0	1	1	1	2	2	2	2	1	0	2	3	1	0	5	9			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr11:55405907G>C	ENST00000314612.2	+	1	74	c.74G>C	c.(73-75)tGc>tCc	p.C25S		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GAAGTCCTCTGCTTTGTATTA	0.353																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(73-75)tGc>tCc		olfactory receptor, family 4, subfamily P, member 4							124	115	119					11																	55405907		2181	4025	6206	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405907G>C	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.74G>C	11.37:g.55405907G>C	ENSP00000324831:p.Cys25Ser						p.C25S	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	74	+			25						Missense_Mutation	SNP	ENST00000314612.2	37	c.74G>C	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276038	0.23307	.	.	ENSG00000181927	ENST00000314612	T	0.02944	4.1	5.02	3.0	0.34707	.	0.348394	0.21229	N	0.078016	T	0.03739	0.0106	N	0.25332	0.735	0.09310	N	1	P	0.38370	0.628	P	0.47346	0.544	T	0.35351	-0.9792	10	0.54805	T	0.06	-3.3595	6.2079	0.20613	0.0871:0.0:0.4423:0.4705	.	25	Q8NGL7	OR4P4_HUMAN	S	25	ENSP00000324831:C25S	ENSP00000324831:C25S	C	+	2	0	OR4P4	55162483	0.000000	0.05858	0.062000	0.19696	0.189000	0.23516	0.610000	0.24253	1.120000	0.41904	0.626000	0.83405	TGC		0.353	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		3	56	0	0	0	1	0	3	56					C	55405907	G	C	55405907	3	2	467	1	0	0	0	0	1	0	0	0	11080	1319	46	5	76	5	OR4P4	11	55405907	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08	10140271	55405907	79600609	18	31582											
SLC22A9	114571	broad.mit.edu	37	chr11	63137888	63137888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagccctgtgtggatggctgGgtgtatgacagaatctcctt	7	12	14	8	0	1	2	0	1	1	1	2	4	1	3	2	3	1	2	2	3	2	2			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr11:63137888G>T	ENST00000279178.3	+	1	609	c.360G>T	c.(358-360)tgG>tgT	p.W120C	SLC22A9_ENST00000310969.4_Missense_Mutation_p.W120C	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	120					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TGGATGGCTGGGTGTATGACA	0.507																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(358-360)tgG>tgT		solute carrier family 22 (organic anion transporter), member 9							123	103	110					11																	63137888		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63137888G>T	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.360G>T	11.37:g.63137888G>T	ENSP00000279178:p.Trp120Cys					SLC22A9_ENST00000310969.4_Missense_Mutation_p.W120C	p.W120C	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			1	609	+			120					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.360G>T	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217608	0.39201	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	D;D	0.84800	-1.9;-1.9	3.48	3.48	0.39840	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.94653	0.8276	H	0.97516	4.02	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.95892	0.8908	10	0.87932	D	0	.	13.0042	0.58694	0.0:0.0:1.0:0.0	.	120	Q8IVM8	S22A9_HUMAN	C	120	ENSP00000311527:W120C;ENSP00000279178:W120C	ENSP00000279178:W120C	W	+	3	0	SLC22A9	62894464	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	6.991000	0.76232	2.025000	0.59659	0.134000	0.15878	TGG		0.507	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		15	57	1	0	2.23348e-06	1	2.58614e-06	15	57					T	63137888	G	T	63137888	3	4	467	1	0	0	0	0	1	0	0	0	14461	1241	43	5	362	5	SLC22A9	11	63137888	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08	7731981	63137888	71868628	19	31583											
C1S	716	broad.mit.edu	37	chr12	7169982	7169982	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgtgcgtatgactcagTgcaggtatgttataagcaca	12	11	11	7	1	1	1	1	1	0	0	1	2	1	1	0	1	4	5	0	1	5	4			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr12:7169982T>C	ENST00000406697.1	+	6	837	c.209T>C	c.(208-210)gTg>gCg	p.V70A	C1S_ENST00000328916.3_Missense_Mutation_p.V70A|C1S_ENST00000360817.5_Missense_Mutation_p.V70A|C1S_ENST00000402681.3_Intron			P09871	C1S_HUMAN	complement component 1, s subcomponent	70	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			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)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TATGACTCAGTGCAGGTATGT	0.463																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(208-210)gTg>gCg		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						117	107	111					12																	7169982		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7169982T>C		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.209T>C	12.37:g.7169982T>C	ENSP00000385035:p.Val70Ala					C1S_ENST00000328916.3_Missense_Mutation_p.V70A|C1S_ENST00000402681.3_Intron|C1S_ENST00000360817.5_Missense_Mutation_p.V70A	p.V70A			P09871	C1S_HUMAN			6	837	+			70			CUB 1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.209T>C	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.383571	0.82792	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000423384;ENST00000413211;ENST00000403949	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	5.77	5.77	0.91146	CUB (5);	0.000000	0.38548	N	0.001655	T	0.75087	0.3802	H	0.96111	3.77	0.80722	D	1	D	0.61080	0.989	D	0.69479	0.964	T	0.83245	-0.0056	10	0.59425	D	0.04	.	16.1024	0.81184	0.0:0.0:0.0:1.0	.	70	P09871	C1S_HUMAN	A	70;70;70;52;70;70;70	ENSP00000385035:V70A;ENSP00000328173:V70A;ENSP00000354057:V70A;ENSP00000399892:V70A;ENSP00000406643:V70A;ENSP00000384464:V70A	ENSP00000328173:V70A	V	+	2	0	C1S	7040243	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	6.452000	0.73485	2.200000	0.70718	0.459000	0.35465	GTG		0.463	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		31	41	0	0	0	1	0	31	41					C	7169982	T	C	7169982	3	2	467	1	0	0	0	0	1	0	0	0	1974	1696	59	4	215	4	C1S	12	7169982	Missense_Mutation	SNP	T	TCGA-YL-A8SR-01B-11D-A377-08		7169982	126681913	20	31584											
KIAA0748	9840	broad.mit.edu	37	chr12	55361659	55361659	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgtcctgcttcctcagaaAatccttcttcagagtatcta	10	14	5	12	0	4	2	2	0	2	2	7	2	7	2	3	0	1	2	3	0	4	5			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr12:55361659A>T	ENST00000449076.1	-	4	356	c.224T>A	c.(223-225)tTt>tAt	p.F75Y	TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.F75Y	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	75					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											TTCCTCAGAAAATCCTTCTTC	0.373																																						ENST00000449076.1																			0											c.(223-225)tTt>tAt		thymocyte expressed, positive selection associated 1							91	87	88					12																	55361659		1849	4107	5956	SO:0001583	missense	9840							g.chr12:55361659A>T	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.224T>A	12.37:g.55361659A>T	ENSP00000400892:p.Phe75Tyr					TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.F75Y|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR	p.F75Y	NM_001136030.2	NP_001129502.1	A2RU30	K0748_HUMAN			4	356	-			75					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.224T>A	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.450380	0.43531	.	.	ENSG00000135426	ENST00000449076;ENST00000316577;ENST00000524668	T;T	0.47528	0.84;0.84	4.74	3.62	0.41486	.	.	.	.	.	T	0.35451	0.0932	L	0.29908	0.895	0.23731	N	0.996994	B	0.25105	0.118	B	0.31751	0.135	T	0.18085	-1.0348	9	0.36615	T	0.2	.	6.2952	0.21081	0.8914:0.0:0.1086:0.0	.	75	A2RU30	K0748_HUMAN	Y	75	ENSP00000400892:F75Y;ENSP00000312679:F75Y	ENSP00000312679:F75Y	F	-	2	0	KIAA0748	53647926	0.857000	0.29778	0.397000	0.26308	0.902000	0.53008	2.949000	0.49074	2.086000	0.62901	0.533000	0.62120	TTT		0.373	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		11	27	0	0	0	1	0	11	27					T	55361659	A	T	55361659	3	4	467	1	0	0	0	0	1	0	0	0	8190	14	1	5	1369	5	KIAA0748	12	55361659	Missense_Mutation	SNP	A	TCGA-YL-A8SR-01B-11D-A377-08	48191677	55361659	78490236	21	31585											
C12orf64	283310	broad.mit.edu	37	chr12	80647288	80647288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatctccttggaaaattGcccatgcggttttcatggat	8	15	9	9	1	2	0	1	0	1	0	3	2	2	2	2	3	3	2	2	3	2	5			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr12:80647288G>T	ENST00000547103.1	+	13	1307	c.1301G>T	c.(1300-1302)tGc>tTc	p.C434F	OTOGL_ENST00000458043.2_Missense_Mutation_p.C434F			Q3ZCN5	OTOGL_HUMAN	otogelin-like	434	TIL 1.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.C434F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTGGAAAATTGCCCATGCGGT	0.353																																						ENST00000458043.2																			1	Substitution - Missense(1)	p.C434F(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(1300-1302)tGc>tTc		otogelin-like							162	155	157					12																	80647288		1841	4097	5938	SO:0001583	missense	283310							g.chr12:80647288G>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1301G>T	12.37:g.80647288G>T	ENSP00000447211:p.Cys434Phe					OTOGL_ENST00000547103.1_Missense_Mutation_p.C434F	p.C434F	NM_173591.3	NP_775862.3					13	1307	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.1301G>T		.	.	.	.	.	.	.	.	.	.	G	22.1	4.244939	0.79912	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	D;D	0.99532	-6.1;-6.1	5.71	5.71	0.89125	.	.	.	.	.	D	0.99809	0.9917	H	0.97023	3.925	0.80722	D	1	.	.	.	.	.	.	D	0.97083	0.9785	7	0.87932	D	0	.	19.8604	0.96781	0.0:0.0:1.0:0.0	.	.	.	.	F	434	ENSP00000447211:C434F;ENSP00000400895:C434F	ENSP00000400895:C434F	C	+	2	0	OTOGL	79171419	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.724000	0.91462	2.699000	0.92147	0.650000	0.86243	TGC		0.353	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		11	39	1	0	5.50884e-06	1	6.2151e-06	11	39					T	80647288	G	T	80647288	3	4	467	1	0	0	0	0	1	0	0	0	1707	1319	46	5	1351	5	C12orf64	12	80647288	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08	25285629	80647288	53204607	22	31586											
PLXNC1	10154	broad.mit.edu	37	chr12	94603368	94603368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgcctcgtttttttaggtGcacttttcaaggagattgtg	6	18	11	6	1	1	1	1	0	0	1	2	2	1	1	1	2	2	3	1	2	2	8			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr12:94603368G>T	ENST00000258526.4	+	5	1691	c.1442G>T	c.(1441-1443)tGc>tTc	p.C481F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	481					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTTTTTAGGTGCACTTTTCAA	0.393																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1441-1443)tGc>tTc		plexin C1							182	187	186					12																	94603368		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94603368G>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1442G>T	12.37:g.94603368G>T	ENSP00000258526:p.Cys481Phe						p.C481F	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			5	1691	+			481					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.1442G>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315401	0.60524	.	.	ENSG00000136040	ENST00000258526;ENST00000551850	D;D	0.91464	-2.85;-2.85	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.94703	0.8291	M	0.92833	3.35	0.80722	D	1	P	0.51449	0.945	P	0.50490	0.642	D	0.95536	0.8608	10	0.87932	D	0	.	15.5041	0.75725	0.0:0.0:1.0:0.0	.	481	O60486	PLXC1_HUMAN	F	481;97	ENSP00000258526:C481F;ENSP00000447843:C97F	ENSP00000258526:C481F	C	+	2	0	PLXNC1	93127499	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	4.834000	0.62774	2.728000	0.93425	0.655000	0.94253	TGC		0.393	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			4	142	1	0	0.000602214	1	0.000646279	4	142					T	94603368	G	T	94603368	3	4	467	1	0	0	0	0	1	0	0	0	12126	1319	46	5	1460	5	PLXNC1	12	94603368	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08	13956080	94603368	39248527	23	31587											
ESR2	2100	broad.mit.edu	37	chr14	64701762	64701762	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgggaggagatgccGctcttggcaatcacccaaac	9	8	12	12	1	2	1	1	0	1	1	2	3	2	2	2	3	4	4	2	3	2	1	rs144392940	byFrequency	TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr14:64701762G>A	ENST00000341099.4	-	8	1749	c.1332C>T	c.(1330-1332)agC>agT	p.S444S	ESR2_ENST00000557772.1_Silent_p.S444S|ESR2_ENST00000267525.6_Silent_p.S353S|ESR2_ENST00000553796.1_Silent_p.S444S|ESR2_ENST00000353772.3_Silent_p.S444S|ESR2_ENST00000542956.1_Silent_p.S444S|ESR2_ENST00000357782.2_Silent_p.S444S|ESR2_ENST00000358599.5_Silent_p.S444S|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Silent_p.S444S|ESR2_ENST00000555278.1_Silent_p.S444S	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	444	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	AGGAGATGCCGCTCTTGGCAA	0.612																																						ENST00000557772.1																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23						c.(1330-1332)agC>agT		estrogen receptor 2 (ER beta)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	G	,,,,	0,4406		0,0,2203	116	88	98		1332,1332,1332,1332,1332	-8.2	0.5	14	dbSNP_134	98	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ESR2	NM_001040275.1,NM_001040276.1,NM_001214902.1,NM_001214903.1,NM_001437.2	,,,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,,,	444/496,444/496,444/482,444/473,444/531	64701762	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0				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	g.chr14:64701762G>A	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.1332C>T	14.37:g.64701762G>A						ESR2_ENST00000353772.3_Silent_p.S444S|ESR2_ENST00000341099.4_Silent_p.S444S|ESR2_ENST00000555278.1_Silent_p.S444S|ESR2_ENST00000267525.6_Silent_p.S353S|ESR2_ENST00000554572.1_Silent_p.S444S|ESR2_ENST00000553796.1_Silent_p.S444S|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000542956.1_Silent_p.S444S|ESR2_ENST00000358599.5_Silent_p.S444S|ESR2_ENST00000357782.2_Silent_p.S444S	p.S444S	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	7	1331	-			444			Steroid-binding.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Silent	SNP	ENST00000341099.4	37	c.1332C>T	CCDS9762.1																																																																																				0.612	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			5	54	0	0	0	1	0	5	54					A	64701762	G	A	64701762	2	1	467	1	0	0	0	0	0	0	0	1	5257	1078	38	1		1	ESR2	14	64701762	Silent	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08		64701762	42647778	24	31588											
ANPEP	290	broad.mit.edu	37	chr15	90349645	90349645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtggccgaggcggggttgGtggtggctgaggcggacggg	3	7	25	6	4	0	1	0	1	0	0	0	3	0	2	1	11	0	2	1	11	0	1			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr15:90349645G>A	ENST00000300060.6	-	2	483	c.170C>T	c.(169-171)aCc>aTc	p.T57I		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	57	Cytosolic Ser/Thr-rich junction.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GGCGGGGTTGGTGGTGGCTGA	0.607																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(169-171)aCc>aTc		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						107	110	109					15																	90349645		2200	4299	6499	SO:0001583	missense	290				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	g.chr15:90349645G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.170C>T	15.37:g.90349645G>A	ENSP00000300060:p.Thr57Ile						p.T57I	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	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)		2	483	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		57			Cytosolic Ser/Thr-rich junction.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.170C>T	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	7.000	0.554742	0.13436	.	.	ENSG00000166825	ENST00000300060	T	0.01323	5.01	4.2	3.23	0.37069	.	0.604741	0.17404	N	0.175422	T	0.01627	0.0052	L	0.36672	1.1	0.09310	N	1	B	0.26635	0.155	B	0.21151	0.033	T	0.45041	-0.9288	10	0.39692	T	0.17	.	11.7493	0.51839	0.0:0.1782:0.8218:0.0	.	57	P15144	AMPN_HUMAN	I	57	ENSP00000300060:T57I	ENSP00000300060:T57I	T	-	2	0	ANPEP	88150649	0.023000	0.18921	0.021000	0.16686	0.021000	0.10359	2.157000	0.42320	1.882000	0.54519	0.467000	0.42956	ACC		0.607	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			5	102	0	0	0	1	0	5	102					A	90349645	G	A	90349645	3	1	467	1	0	0	0	0	1	0	0	0	710	1261	44	3	2813	3	ANPEP	15	90349645	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08		90349645	12181747	25	31589											
IGSF6	10261	broad.mit.edu	37	chr16	21658767	21658767	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgagtgtagtccacttcTaggtaccacggttgtgtgac	8	13	11	9	1	2	2	1	2	1	0	3	2	3	2	2	2	1	3	2	2	3	5			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr16:21658767T>C	ENST00000268389.4	-	2	175	c.114A>G	c.(112-114)ctA>ctG	p.L38L	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	38	Ig-like C2-type.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		AGTCCACTTCTAGGTACCACG	0.552																																						ENST00000268389.4																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(112-114)ctA>ctG		immunoglobulin superfamily, member 6							100	78	85					16																	21658767		2199	4300	6499	SO:0001819	synonymous_variant	10261				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr16:21658767T>C	AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"Immunoglobulin superfamily / V-set domain containing"	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.114A>G	16.37:g.21658767T>C						METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	p.L38L	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN		GBM - Glioblastoma multiforme(48;0.066)	2	175	-			38			Ig-like C2-type.		Q8WWD8	Silent	SNP	ENST00000268389.4	37	c.114A>G	CCDS10599.1																																																																																				0.552	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1			11	38	0	0	0	1	0	11	38					C	21658767	T	C	21658767	2	2	467	1	0	0	0	0	0	0	0	1	7603	1509	53	4		4	IGSF6	16	21658767	Silent	SNP	T	TCGA-YL-A8SR-01B-11D-A377-08		21658767	68695986	26	31590											
GLG1	2734	broad.mit.edu	37	chr16	74526917	74526917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcttcacgcgatcgcGgaaggttttccacattgcac	7	10	11	13	4	1	0	1	0	0	0	3	2	2	1	2	3	1	3	2	3	1	4			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr16:74526917G>A	ENST00000422840.2	-	7	1171	c.1172C>T	c.(1171-1173)cCg>cTg	p.P391L	GLG1_ENST00000447066.2_Missense_Mutation_p.P380L|GLG1_ENST00000205061.5_Missense_Mutation_p.P391L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	391					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACGCGATCGCGGAAGGTTTTC	0.413																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(1171-1173)cCg>cTg		golgi glycoprotein 1							116	103	107					16																	74526917		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74526917G>A		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1172C>T	16.37:g.74526917G>A	ENSP00000405984:p.Pro391Leu					GLG1_ENST00000205061.5_Missense_Mutation_p.P391L|GLG1_ENST00000447066.2_Missense_Mutation_p.P380L	p.P391L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			7	1171	-			391					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.1172C>T	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305389	0.81247	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	L	0.57536	1.79	0.80722	D	1	D;D;D	0.58970	0.961;0.984;0.964	P;P;P	0.50405	0.64;0.507;0.452	T	0.65117	-0.6246	9	0.45353	T	0.12	.	20.0442	0.97604	0.0:0.0:1.0:0.0	.	391;391;380	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	L	391;380;391	.	ENSP00000205061:P391L	P	-	2	0	GLG1	73084418	1.000000	0.71417	0.989000	0.46669	0.390000	0.30446	9.549000	0.98106	2.814000	0.96858	0.655000	0.94253	CCG		0.413	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		3	49	0	0	0	1	0	3	49					A	74526917	G	A	74526917	3	1	467	1	0	0	0	0	1	0	0	0	6436	1116	39	2	2527	2	GLG1	16	74526917	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08	52868150	74526917	15827836	27	31591											
MPP2	4355	broad.mit.edu	37	chr17	41958703	41958703	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgagcccagcactgcccccTtcgacatggcatgcctaaaa	11	7	8	15	1	0	1	0	1	0	0	1	2	0	1	4	1	4	2	4	1	2	2			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr17:41958703T>A	ENST00000461854.1	-	9	985	c.900A>T	c.(898-900)gaA>gaT	p.E300D	MPP2_ENST00000269095.4_Missense_Mutation_p.E276D|MPP2_ENST00000377184.3_Missense_Mutation_p.E293D|MPP2_ENST00000536246.1_Missense_Mutation_p.E265D|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Missense_Mutation_p.E321D|MPP2_ENST00000523501.1_Missense_Mutation_p.E265D|MPP2_ENST00000520305.1_Missense_Mutation_p.E137D			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	300	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CACTGCCCCCTTCGACATGGC	0.582											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(826-828)gaA>gaT		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							83	85	85					17																	41958703		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41958703T>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 2", "discs large, homolog 2"	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.900A>T	17.37:g.41958703T>A	ENSP00000428286:p.Glu300Asp		OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	MPP2_ENST00000536246.1_Missense_Mutation_p.E265D|MPP2_ENST00000523501.1_Missense_Mutation_p.E265D|MPP2_ENST00000518766.1_Missense_Mutation_p.E321D|MPP2_ENST00000461854.1_Missense_Mutation_p.E300D|MPP2_ENST00000377184.3_Missense_Mutation_p.E293D|MPP2_ENST00000520305.1_Missense_Mutation_p.E137D	p.E276D	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	8	1132	-		Breast(137;0.00314)	300			SH3.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.828A>T		.	.	.	.	.	.	.	.	.	.	t	13.76	2.333128	0.41297	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.1	-0.224	0.13115	.	.	.	.	.	T	0.70579	0.3240	L	0.31476	0.935	0.51482	D	0.999923	B;B	0.14012	0.009;0.007	B;B	0.21360	0.034;0.011	T	0.55477	-0.8135	9	0.29301	T	0.29	.	9.1251	0.36810	0.0:0.3227:0.0:0.6773	.	321;293	E7EV80;Q14168-3	.;.	D	293;276;300;137;265;265;321	ENSP00000366389:E293D;ENSP00000269095:E276D;ENSP00000428286:E300D;ENSP00000428136:E137D;ENSP00000430540:E265D;ENSP00000438012:E265D;ENSP00000428182:E321D	ENSP00000269095:E276D	E	-	3	2	MPP2	39314229	0.004000	0.15560	0.987000	0.45799	0.782000	0.44232	-1.404000	0.02494	-0.105000	0.12132	0.454000	0.30748	GAA		0.582	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		20	46	0	0	0	1	0	20	46					A	41958703	T	A	41958703	3	1	467	1	0	0	0	0	1	0	0	0	9734	1606	56	5	854	5	MPP2	17	41958703	Missense_Mutation	SNP	T	TCGA-YL-A8SR-01B-11D-A377-08		41958703	39236507	28	31592											
ABCA7	10347	broad.mit.edu	37	chr19	1045143	1045143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaccccacagagcaccCaaccccagacctgggccccg	10	3	8	20	1	1	3	1	0	0	3	1	3	1	3	8	1	2	1	8	1	1	1			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr19:1045143C>T	ENST00000263094.6	+	12	1589	c.1358C>T	c.(1357-1359)cCa>cTa	p.P453L	ABCA7_ENST00000435683.2_Missense_Mutation_p.P315L|ABCA7_ENST00000433129.1_Missense_Mutation_p.P453L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	453					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			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)		ACAGAGCACCCAACCCCAGAC	0.627																																						ENST00000263094.6																			0				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						c.(1357-1359)cCa>cTa		ATP-binding cassette, sub-family A (ABC1), member 7							53	55	54					19																	1045143		2203	4299	6502	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1045143C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1358C>T	19.37:g.1045143C>T	ENSP00000263094:p.Pro453Leu					ABCA7_ENST00000435683.2_Missense_Mutation_p.P315L|ABCA7_ENST00000433129.1_Missense_Mutation_p.P453L	p.P453L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1589	+		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)	453					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1358C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016380	0.35606	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.96885	-4.16;-4.16	3.61	2.54	0.30619	.	.	.	.	.	D	0.90648	0.7067	N	0.14661	0.345	0.09310	N	1	B;B	0.26809	0.16;0.041	B;B	0.21917	0.037;0.017	D	0.84538	0.0637	9	0.87932	D	0	.	9.529	0.39182	0.0:0.783:0.217:0.0	.	315;453	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	L	453	ENSP00000263094:P453L;ENSP00000414062:P453L	ENSP00000263094:P453L	P	+	2	0	ABCA7	996143	0.002000	0.14202	0.001000	0.08648	0.015000	0.08874	1.810000	0.38932	0.775000	0.33450	0.462000	0.41574	CCA		0.627	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		23	66	0	0	0	1	0	23	66					T	1045143	C	T	1045143	3	4	467	1	0	0	0	0	1	0	0	0	37	594	21	3	1400	3	ABCA7	19	1045143	Missense_Mutation	SNP	C	TCGA-YL-A8SR-01B-11D-A377-08		1045143	58083840	29	31593											
BLCAP	10904	broad.mit.edu	37	chr20	36147327	36147327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccgttaggtgcccacaaCgccgggatcatgcgccgatt	8	7	13	13	5	1	0	1	0	0	0	1	2	1	1	4	3	3	1	4	3	2	2			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr20:36147327C>T	ENST00000373537.2	-	2	564	c.250G>A	c.(250-252)Gtt>Att	p.V84I	BLCAP_ENST00000397134.1_Missense_Mutation_p.V84I|BLCAP_ENST00000397131.1_Missense_Mutation_p.V84I|NNAT_ENST00000346199.2_5'Flank|NNAT_ENST00000062104.2_5'Flank|BLCAP_ENST00000414542.2_Missense_Mutation_p.V84I|BLCAP_ENST00000397137.1_Missense_Mutation_p.V84I|BLCAP_ENST00000397135.1_Missense_Mutation_p.V84I	NM_001167823.1|NM_006698.3	NP_001161295.1|NP_006689.1	P62952	BLCAP_HUMAN	bladder cancer associated protein	84					apoptotic nuclear changes (GO:0030262)|cell cycle (GO:0007049)	integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				GTGCCCACAACGCCGGGATCA	0.547																																						ENST00000414542.2																			0				breast(1)|large_intestine(1)|lung(2)|stomach(1)	5						c.(250-252)Gtt>Att		bladder cancer associated protein							65	65	65					20																	36147327		2203	4300	6503	SO:0001583	missense	10904				apoptosis|cell cycle	integral to membrane		g.chr20:36147327C>T	AF053470	CCDS13295.1	20q11.23	2006-01-29			ENSG00000166619	ENSG00000166619			1055	protein-coding gene	gene with protein product		613110				10197429	Standard	NM_006698		Approved	BC10	uc021wdf.1	P62952	OTTHUMG00000032419	ENST00000373537.2:c.250G>A	20.37:g.36147327C>T	ENSP00000362637:p.Val84Ile					BLCAP_ENST00000397135.1_Missense_Mutation_p.V84I|BLCAP_ENST00000397131.1_Missense_Mutation_p.V84I|BLCAP_ENST00000397137.1_Missense_Mutation_p.V84I|BLCAP_ENST00000467603.1_Intron|BLCAP_ENST00000373537.2_Missense_Mutation_p.V84I|BLCAP_ENST00000397134.1_Missense_Mutation_p.V84I	p.V84I	NM_001167820.1|NM_001167823.1	NP_001161292.1|NP_001161295.1	P62952	BLCAP_HUMAN			3	697	-		Myeloproliferative disorder(115;0.00878)	84					A2A2K7|O60629|Q9D3B5	Missense_Mutation	SNP	ENST00000373537.2	37	c.250G>A	CCDS13295.1	.	.	.	.	.	.	.	.	.	.	C	0.238	-1.015923	0.02078	.	.	ENSG00000166619	ENST00000373537;ENST00000397137;ENST00000414542;ENST00000397135;ENST00000397134;ENST00000397131;ENST00000432507	.	.	.	4.95	2.88	0.33553	.	0.170852	0.49916	N	0.000135	T	0.13500	0.0327	.	.	.	0.20926	N	0.999828	B	0.02656	0.0	B	0.01281	0.0	T	0.30650	-0.9971	8	0.02654	T	1	.	8.3438	0.32261	0.0:0.7914:0.0:0.2086	.	84	P62952	BLCAP_HUMAN	I	84	.	ENSP00000362637:V84I	V	-	1	0	BLCAP	35580741	1.000000	0.71417	0.389000	0.26208	0.832000	0.47134	3.295000	0.51794	1.299000	0.44798	0.585000	0.79938	GTT		0.547	BLCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079113.2	NM_006698		14	34	0	0	0	1	0	14	34					T	36147327	C	T	36147327	3	4	467	1	0	0	0	0	1	0	0	0	1442	536	19	1	17	1	BLCAP	20	36147327	Missense_Mutation	SNP	C	TCGA-YL-A8SR-01B-11D-A377-08		36147327	26878193	30	31594											
TIAM1	7074	broad.mit.edu	37	chr21	32526726	32526726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcaaactgcggcaaaatgCggccacctgttctgtactct	10	10	9	12	2	2	0	0	0	2	0	2	0	2	0	2	2	5	4	2	2	4	2	rs375192468		TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr21:32526726C>T	ENST00000286827.3	-	18	3481	c.3010G>A	c.(3010-3012)Gca>Aca	p.A1004T	TIAM1_ENST00000541036.1_Missense_Mutation_p.A944T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1004					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGGCAAAATGCGGCCACCTGT	0.582																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(3010-3012)Gca>Aca		T-cell lymphoma invasion and metastasis 1		C	THR/ALA	0,4406		0,0,2203	118	107	110		3010	3.6	0.7	21		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIAM1	NM_003253.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1004/1592	32526726	1,13005	2203	4300	6503	SO:0001583	missense	7074				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	g.chr21:32526726C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3010G>A	21.37:g.32526726C>T	ENSP00000286827:p.Ala1004Thr					TIAM1_ENST00000541036.1_Missense_Mutation_p.A944T	p.A1004T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			18	3481	-			1004					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.3010G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155398	0.57259	0.0	1.16E-4	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.40756	1.02;1.03	5.41	3.56	0.40772	.	0.243774	0.41294	N	0.000916	T	0.37433	0.1003	L	0.59436	1.845	0.53005	D	0.999966	B;B;B	0.30193	0.266;0.272;0.174	B;B;B	0.21917	0.037;0.025;0.017	T	0.41142	-0.9525	10	0.62326	D	0.03	.	12.1719	0.54163	0.0:0.8601:0.0:0.1399	.	944;944;1004	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	T	1004;845;944	ENSP00000286827:A1004T;ENSP00000441570:A944T	ENSP00000286827:A1004T	A	-	1	0	TIAM1	31448597	1.000000	0.71417	0.708000	0.30435	0.786000	0.44442	3.120000	0.50430	1.522000	0.49001	0.655000	0.94253	GCA		0.582	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		3	60	0	0	0	1	0	3	60					T	32526726	C	T	32526726	3	4	467	1	0	0	0	0	1	0	0	0	15887	768	27	1	1813	1	TIAM1	21	32526726	Missense_Mutation	SNP	C	TCGA-YL-A8SR-01B-11D-A377-08		32526726	15603169	31	31595											
L1CAM	3897	broad.mit.edu	37	chrX	153130847	153130847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtaggagctatagggccGcaagccactgaggatgacac	11	6	15	9	1	0	2	0	2	0	0	0	4	0	4	2	4	2	3	2	4	4	3			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chrX:153130847G>A	ENST00000370060.1	-	21	2845	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	886	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.R886W(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTATAGGGCCGCAAGCCACTG	0.612																																						ENST00000370060.1																			1	Substitution - Missense(1)	p.R886W(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2656-2658)Cgg>Tgg		L1 cell adhesion molecule							141	114	123					X																	153130847		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130847G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2656C>T	X.37:g.153130847G>A	ENSP00000359077:p.Arg886Trp					L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W	p.R886W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			21	2845	-	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)		886			Fibronectin type-III 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2656C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695980	0.30052	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.33	1.51	0.23008	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.290733	0.23770	N	0.044730	T	0.49575	0.1565	M	0.68952	2.095	0.39443	D	0.967286	B;B;B	0.26195	0.065;0.144;0.048	B;B;B	0.25405	0.025;0.06;0.043	T	0.43491	-0.9388	10	0.54805	T	0.06	.	5.1621	0.15066	0.1693:0.0:0.2808:0.5499	.	881;886;886	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	W	886;888;886;888;881;881;886	ENSP00000359077:R886W;ENSP00000438430:R888W;ENSP00000359074:R886W;ENSP00000439645:R888W;ENSP00000354712:R881W;ENSP00000359072:R881W;ENSP00000355380:R886W	ENSP00000355380:R886W	R	-	1	2	L1CAM	152784041	0.135000	0.22499	0.333000	0.25482	0.410000	0.31052	1.255000	0.32909	0.105000	0.17753	0.529000	0.55759	CGG		0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		3	58	0	0	0	1	0	3	58					A	153130847	G	A	153130847	3	1	467	1	0	0	0	0	1	0	0	0	8588	1086	38	1	1153	1	L1CAM	23	153130847	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08		153130847	2139713	32	31596											
PRDM16	63976	broad.mit.edu	37	chr1	3328822	3328822	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctgactgcaacgggCgccgccggggactccatcaa	8	5	13	15	4	1	1	1	1	0	0	2	2	2	2	3	3	4	3	3	3	2	0			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:3328822C>T	ENST00000270722.5	+	9	2110	c.2061C>T	c.(2059-2061)ggC>ggT	p.G687G	PRDM16_ENST00000378391.2_Silent_p.G687G|PRDM16_ENST00000442529.2_Silent_p.G687G|PRDM16_ENST00000511072.1_Silent_p.G688G|PRDM16_ENST00000378398.3_Silent_p.G688G|PRDM16_ENST00000514189.1_Silent_p.G688G|PRDM16_ENST00000441472.2_Silent_p.G687G|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	687	Interaction with CTBP1 and CTBP2. {ECO:0000250}.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CTGCAACGGGCGCCGCCGGGG	0.657			T	EVI1	"MDS, AML"																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"MDS, AML"		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(2062-2064)ggC>ggT		PR domain containing 16							49	60	56					1																	3328822		2008	4160	6168	SO:0001819	synonymous_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328822C>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2061C>T	1.37:g.3328822C>T						PRDM16_ENST00000442529.2_Silent_p.G687G|PRDM16_ENST00000441472.2_Silent_p.G687G|PRDM16_ENST00000514189.1_Silent_p.G688G|PRDM16_ENST00000511072.1_Silent_p.G688G|PRDM16_ENST00000378391.2_Silent_p.G687G|PRDM16_ENST00000270722.5_Silent_p.G687G|PRDM16_ENST00000512462.1_3'UTR	p.G688G			Q9HAZ2	PRD16_HUMAN		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)	10	2146	+	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)	687			Interaction with CTBP1 and CTBP2 (By similarity).		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.2064C>T	CCDS41236.2																																																																																				0.657	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		18	43	0	0	0	1	0	18	43					T	3328822	C	T	3328822	2	4	468	1	0	0	0	0	0	0	0	1	12457	755	27	1		1	PRDM16	1	3328822	Silent	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08		3328822	245921799	1	31597											
RNF186	54546	broad.mit.edu	37	chr1	20141158	20141158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgccacgtggtttgcaCttacttcatcctgtccatcc	5	13	9	14	1	1	0	1	0	0	0	4	0	4	0	4	2	3	3	4	2	1	3			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:20141158C>T	ENST00000375121.2	-	1	613	c.437G>A	c.(436-438)aGt>aAt	p.S146N	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	146						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			kidney(1)|lung(3)|urinary_tract(1)	5		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)		GTGGTTTGCACTTACTTCATC	0.607																																						ENST00000375121.2																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(436-438)aGt>aAt		ring finger protein 186							97	115	109					1																	20141158		2203	4300	6503	SO:0001583	missense	54546					integral to membrane	zinc ion binding	g.chr1:20141158C>T		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"RING-type (C3HC4) zinc fingers"	25978	protein-coding gene	gene with protein product	"hypothetical protein FLJ20225"					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.437G>A	1.37:g.20141158C>T	ENSP00000364263:p.Ser146Asn					RP11-91K11.2_ENST00000454736.1_RNA	p.S146N	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN		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)	1	613	-		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)	146					Q53GE0	Missense_Mutation	SNP	ENST00000375121.2	37	c.437G>A	CCDS199.1	.	.	.	.	.	.	.	.	.	.	C	4.061	0.009104	0.07912	.	.	ENSG00000178828	ENST00000375121	T	0.33654	1.4	5.71	1.62	0.23740	.	0.685525	0.13903	N	0.354741	T	0.16599	0.0399	N	0.04880	-0.145	0.09310	N	1	B	0.15930	0.015	B	0.16722	0.016	T	0.21449	-1.0245	10	0.33940	T	0.23	-3.5764	6.7307	0.23381	0.0:0.5579:0.2415:0.2006	.	146	Q9NXI6	RN186_HUMAN	N	146	ENSP00000364263:S146N	ENSP00000364263:S146N	S	-	2	0	RNF186	20013745	0.001000	0.12720	0.099000	0.21106	0.196000	0.23810	0.214000	0.17541	0.317000	0.23160	0.655000	0.94253	AGT		0.607	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		5	80	0	0	0	1	0	5	80					T	20141158	C	T	20141158	3	4	468	1	0	0	0	0	1	0	0	0	13469	565	20	3	250	3	RNF186	1	20141158	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	16812336	20141158	229109463	2	31598											
TRIM33	51592	broad.mit.edu	37	chr1	114968071	114968071	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtaacacgatacttacCtgttgttgtaacatctgagg	11	14	9	7	1	1	1	0	1	1	0	1	2	1	1	1	1	4	5	1	1	5	7			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:114968071C>T	ENST00000358465.2	-	9	1778	c.1695G>A	c.(1693-1695)caG>caA	p.Q565Q	TRIM33_ENST00000450349.2_Splice_Site_p.Q173Q|TRIM33_ENST00000369543.2_Splice_Site_p.Q565Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	565					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			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)		CGATACTTACCTGTTGTTGTA	0.383			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	" tripartite motif-containing 33 (PTC7,TIF1G)"			E	RET		papillary thyroid		0				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						c.e9+1		tripartite motif containing 33							246	249	248					1																	114968071		2203	4300	6503	SO:0001630	splice_region_variant	51592				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	g.chr1:114968071C>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1695+1G>A	1.37:g.114968071C>T						TRIM33_ENST00000450349.2_Splice_Site_p.Q173_splice|TRIM33_ENST00000369543.2_Splice_Site_p.Q565_splice	p.Q565_splice	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		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)	9	1778	-	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)	565					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Splice_Site	SNP	ENST00000358465.2	37	c.1695_splice	CCDS872.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610983	0.28712	.	.	ENSG00000197323	ENST00000448034	.	.	.	4.86	2.99	0.34606	.	.	.	.	.	T	0.48114	0.1482	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44452	-0.9327	4	.	.	.	-6.7369	10.9116	0.47112	0.0:0.8476:0.0:0.1524	.	.	.	.	N	302	.	.	S	-	2	0	TRIM33	114769594	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	4.190000	0.58365	0.577000	0.29470	0.650000	0.86243	AGC		0.383	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906	Silent	42	85	0	0	0	1	0	42	85					T	114968071	C	T	114968071	5	4	468	1	0	0	0	0	0	0	1	0	16504	695	24	3	1736	3	TRIM33	1	114968071	Splice_Site	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	94826913	114968071	134282550	3	31599											
FLG	2312	broad.mit.edu	37	chr1	152284791	152284791	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctatctaccgattgctcGtggtgggacccctgccttcc	5	11	10	15	2	1	0	0	0	1	0	3	3	2	1	6	2	3	1	6	2	2	4	rs375680393		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:152284791G>A	ENST00000368799.1	-	3	2606	c.2571C>T	c.(2569-2571)caC>caT	p.H857H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	857	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			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)			CCGATTGCTCGTGGTGGGACC	0.592									Ichthyosis																													ENST00000368799.1																			0				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						c.(2569-2571)caC>caT		filaggrin		G		1,4405		0,1,2202	348	338	341		2571	-7.7	0	1		341	1,8599		0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		857/4062	152284791	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284791G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2571C>T	1.37:g.152284791G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H857H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2606	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		857			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.2571C>T	CCDS30860.1																																																																																				0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		161	220	0	0	0	1	0	161	220					A	152284791	G	A	152284791	2	1	468	1	0	0	0	0	0	0	0	1	5922	1136	40	1		1	FLG	1	152284791	Silent	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08	37316720	152284791	96965830	4	31600											
S100A7L2	645922	broad.mit.edu	37	chr1	153409549	153409549	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggatcactggcttcccccGgaacagggtgccactccatg	7	8	12	14	1	1	0	1	0	0	0	3	2	3	2	4	4	2	1	4	4	1	1	rs568882807		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:153409549G>A	ENST00000368725.2	-	3	323	c.324C>T	c.(322-324)tcC>tcT	p.S108S		NM_001045479.1	NP_001038944.2	Q5SY68	S1A7B_HUMAN	S100 calcium binding protein A7-like 2	97							calcium ion binding (GO:0005509)			NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTTCCCCCGGAACAGGGTG	0.488													G|||	1	0.000199681	0	0	5008	,	,		17628	0		0	False		,,,				2504	0.001					ENST00000368725.2																			0				NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8						c.(322-324)tcC>tcT		S100 calcium binding protein A7-like 2							155	166	162					1																	153409549		2203	4300	6503	SO:0001819	synonymous_variant	645922							g.chr1:153409549G>A			1q21.3	2013-01-10			ENSG00000197364	ENSG00000197364		"EF-hand domain containing"	21655	protein-coding gene	gene with protein product							Standard	NM_001045479		Approved	s100a7b	uc010pdx.2	Q5SY68	OTTHUMG00000013129	ENST00000368725.2:c.324C>T	1.37:g.153409549G>A							p.S108S	NM_001045479.1	NP_001038944.2			LUSC - Lung squamous cell carcinoma(543;0.171)		3	323	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)								Silent	SNP	ENST00000368725.2	37	c.324C>T																																																																																					0.488	S100A7L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036797.2	NM_001045479		45	95	0	0	0	1	0	45	95					A	153409549	G	A	153409549	2	1	468	1	0	0	0	0	0	0	0	1	13785	1103	39	2		2	S100A7L2	1	153409549	Silent	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08	1124758	153409549	95841072	5	31601											
SHE	126669	broad.mit.edu	37	chr1	154459160	154459160	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctccttcaaactggaCtggaaggaagactccattta	12	10	8	11	0	2	1	2	0	0	1	4	4	4	4	2	3	2	1	2	3	4	3			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:154459160C>G	ENST00000304760.2	-	4	1111		c.e4-1			NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E											breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	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)			TCAAACTGGACTGGAAGGAAG	0.542																																						ENST00000304760.2																			0				breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14						c.e4-1		Src homology 2 domain containing E							67	60	63					1																	154459160		2203	4300	6503	SO:0001630	splice_region_variant	126669							g.chr1:154459160C>G	AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"SH2 domain containing"	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.1025-1G>C	1.37:g.154459160C>G								NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	1111	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)							Q8TEQ5	Splice_Site	SNP	ENST00000304760.2	37		CCDS30877.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373545	0.82573	.	.	ENSG00000169291	ENST00000555188;ENST00000304760	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4953	0.90863	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHE	152725784	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.016000	0.76393	2.785000	0.95823	0.591000	0.81541	.		0.542	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087910.2	NM_001010846	Intron	23	20	0	0	0	1	0	23	20					G	154459160	C	G	154459160	5	3	468	1	0	0	0	0	0	0	1	0	14276	579	20	5	475	5	SHE	1	154459160	Splice_Site	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	1049611	154459160	94791461	6	31602											
CD5L	922	broad.mit.edu	37	chr1	157804238	157804238	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcatcatggttgcaggtgTtcttcccccaaggcccagaa	8	11	9	13	0	3	1	2	0	1	1	4	1	4	1	3	3	1	3	3	3	2	4			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:157804238T>G	ENST00000368174.4	-	4	773	c.677A>C	c.(676-678)aAc>aCc	p.N226T	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	226	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			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)			GTTGCAGGTGTTCTTCCCCCA	0.493																																						ENST00000368174.4																			0				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						c.(676-678)aAc>aCc		CD5 molecule-like							54	47	49					1																	157804238		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804238T>G	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.677A>C	1.37:g.157804238T>G	ENSP00000357156:p.Asn226Thr						p.N226T	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	773	-	all_hematologic(112;0.0378)		226			SRCR 2.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.677A>C	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.298841	0.40694	.	.	ENSG00000073754	ENST00000368174	T	0.34859	1.34	4.87	-3.67	0.04476	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.453140	0.04150	N	0.321116	T	0.13372	0.0324	L	0.39898	1.24	0.09310	N	1	B	0.26147	0.143	B	0.34093	0.175	T	0.42882	-0.9425	10	0.56958	D	0.05	.	7.1112	0.25390	0.1069:0.3572:0.0:0.5359	.	226	O43866	CD5L_HUMAN	T	226	ENSP00000357156:N226T	ENSP00000357156:N226T	N	-	2	0	CD5L	156070862	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.142000	0.16096	-1.448000	0.01941	-2.096000	0.00365	AAC		0.493	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		25	20	0	0	0	1	0	25	20					G	157804238	T	G	157804238	3	3	468	1	0	0	0	0	1	0	0	0	3027	1725	60	5	378	5	CD5L	1	157804238	Missense_Mutation	SNP	T	TCGA-YL-A9WH-01A-11D-A377-08	3345078	157804238	91446383	7	31603											
IRF6	3664	broad.mit.edu	37	chr1	209974625	209974625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgttgagggctatgcCgggtggcatgtttccaggga	5	13	15	8	1	1	1	0	1	1	0	2	2	2	2	2	4	1	4	2	4	1	5	rs121434229		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:209974625C>T	ENST00000367021.3	-	3	306	c.134G>A	c.(133-135)cGg>cAg	p.R45Q	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	45			R -> Q (in VWS1; dbSNP:rs121434229). {ECO:0000269|PubMed:14618417}.		cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AGGGCTATGCCGGGTGGCATG	0.468										HNSCC(57;0.16)			C|||	1	0.000199681	8e-04	0	5008	,	,		16929	0		0	False		,,,				2504	0					ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28	GRCh37	CM034818	IRF6	M	rs121434229	c.(133-135)cGg>cAg		interferon regulatory factor 6							87	94	92					1																	209974625		2203	4300	6503	SO:0001583	missense	3664				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	g.chr1:209974625C>T	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.134G>A	1.37:g.209974625C>T	ENSP00000355988:p.Arg45Gln	HNSCC(57;0.16)				IRF6_ENST00000542854.1_Intron	p.R45Q	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	3	306	-			45		R -> Q (in VWS).			B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.134G>A	CCDS1492.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	36	5.676240	0.96764	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.98280	-4.84;-4.84	6.17	6.17	0.99709	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.052273	0.85682	D	0.000000	D	0.99052	0.9675	M	0.84326	2.69	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99087	1.0839	8	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	45	O14896	IRF6_HUMAN	Q	45	ENSP00000355988:R45Q;ENSP00000403855:R45Q	.	R	-	2	0	IRF6	208041248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.311000	0.78958	2.941000	0.99782	0.655000	0.94253	CGG		0.468	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		20	80	0	0	0	1	0	20	80					T	209974625	C	T	209974625	3	4	468	1	0	0	0	0	1	0	0	0	7834	652	23	2	1297	2	IRF6	1	209974625	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	52170387	209974625	39275996	8	31604											
HS1BP3	64342	broad.mit.edu	37	chr2	20824556	20824556	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcctgcccgggccaaagagCccctcatcagggtccacctc	7	7	9	18	1	2	1	2	0	0	1	5	1	4	1	7	2	2	0	7	2	1	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:20824556C>T	ENST00000304031.3	-	5	745	c.720G>A	c.(718-720)ggG>ggA	p.G240G		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	240							phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCAAAGAGCCCCTCATCAG	0.617																																						ENST00000304031.3																			0				endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15						c.(718-720)ggG>ggA		HCLS1 binding protein 3							74	81	79					2																	20824556		2203	4300	6503	SO:0001819	synonymous_variant	64342				cell communication		phosphatidylinositol binding	g.chr2:20824556C>T		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.720G>A	2.37:g.20824556C>T							p.G240G	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN			5	745	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		240					B2RAW2|D6W529|Q86VC2|Q8N367	Silent	SNP	ENST00000304031.3	37	c.720G>A	CCDS1700.1	.	.	.	.	.	.	.	.	.	.	C	2.406	-0.336537	0.05278	.	.	ENSG00000118960	ENST00000445102	.	.	.	4.7	3.83	0.44106	.	.	.	.	.	T	0.58878	0.2153	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55673	-0.8104	4	.	.	.	-8.0781	8.6233	0.33875	0.0:0.897:0.0:0.103	.	.	.	.	T	33	.	.	A	-	1	0	HS1BP3	20688037	0.026000	0.19158	0.910000	0.35882	0.028000	0.11728	-0.004000	0.12878	1.202000	0.43218	0.655000	0.94253	GCT		0.617	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		4	45	0	0	0	1	0	4	45					T	20824556	C	T	20824556	2	4	468	1	0	0	0	0	0	0	0	1	7361	726	26	3		3	HS1BP3	2	20824556	Silent	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08		20824556	222374817	9	31605											
SMEK2	57223	broad.mit.edu	37	chr2	55825874	55825874	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccttatttaggaataagattCctctaataatttcatacaaa	16	15	3	7	0	2	1	1	0	1	1	3	2	3	2	2	1	1	0	2	1	8	9			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:55825874C>G	ENST00000345102.5	-	4	900	c.599G>C	c.(598-600)gGa>gCa	p.G200A	SMEK2_ENST00000407823.3_Missense_Mutation_p.G200A|SMEK2_ENST00000272313.5_Missense_Mutation_p.G200A	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	200					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				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)			GAATAAGATTCCTCTAATAAT	0.373																																						ENST00000272313.5																			0				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(598-600)gGa>gCa		SMEK homolog 2, suppressor of mek1 (Dictyostelium)							67	71	69					2																	55825874		2203	4300	6503	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55825874C>G	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.599G>C	2.37:g.55825874C>G	ENSP00000339769:p.Gly200Ala					SMEK2_ENST00000407823.3_Missense_Mutation_p.G200A|SMEK2_ENST00000345102.5_Missense_Mutation_p.G200A	p.G200A	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	926	-			200					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.599G>C	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944737	0.73672	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.41758	0.99;0.99;0.99	5.74	5.74	0.90152	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.046376	0.85682	D	0.000000	T	0.54759	0.1878	L	0.42529	1.33	0.80722	D	1	P;D;B;P	0.55605	0.537;0.972;0.365;0.771	B;P;B;P	0.60609	0.236;0.877;0.131;0.549	T	0.36237	-0.9756	10	0.22706	T	0.39	-14.3084	19.9219	0.97089	0.0:1.0:0.0:0.0	.	200;200;200;200	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	A	200	ENSP00000272313:G200A;ENSP00000385912:G200A;ENSP00000339769:G200A	ENSP00000272313:G200A	G	-	2	0	SMEK2	55679378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.697000	0.92050	0.655000	0.94253	GGA		0.373	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		23	53	0	0	0	1	0	23	53					G	55825874	C	G	55825874	3	3	468	1	0	0	0	0	1	0	0	0	14794	855	30	5	2006	5	SMEK2	2	55825874	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	35001318	55825874	187373499	10	31606											
PROKR1	10887	broad.mit.edu	37	chr2	68882361	68882361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcaagaggctgcgctgcCgcaggaagacggtcctggtg	7	6	16	12	4	0	2	0	0	0	2	2	3	2	3	3	4	2	4	3	4	2	0	rs200160500		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:68882361C>T	ENST00000303786.3	+	3	1255	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	PROKR1_ENST00000394342.2_Missense_Mutation_p.R279C			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	279					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTGCGCTGCCGCAGGAAGAC	0.622																																						ENST00000303786.3																			0				endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(835-837)Cgc>Tgc		prokineticin receptor 1							75	64	68					2																	68882361		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882361C>T	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"GPCR / Class A : Prokineticin receptors"	4524	protein-coding gene	gene with protein product		607122	"G protein-coupled receptor 73"	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.835C>T	2.37:g.68882361C>T	ENSP00000303775:p.Arg279Cys					PROKR1_ENST00000394342.2_Missense_Mutation_p.R279C	p.R279C			Q8TCW9	PKR1_HUMAN			3	1255	+			279					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.835C>T	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132043	0.77662	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.72942	-0.7;-0.7	4.55	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85022	0.5602	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87604	0.2499	10	0.87932	D	0	.	12.1952	0.54292	0.1717:0.8283:0.0:0.0	.	279	Q8TCW9	PKR1_HUMAN	C	279	ENSP00000303775:R279C;ENSP00000377874:R279C	ENSP00000303775:R279C	R	+	1	0	PROKR1	68735865	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.589000	0.53972	1.467000	0.48044	0.563000	0.77884	CGC		0.622	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			23	18	0	0	0	1	0	23	18					T	68882361	C	T	68882361	3	4	468	1	0	0	0	0	1	0	0	0	12552	652	23	2	841	2	PROKR1	2	68882361	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	13056487	68882361	174317012	11	31607											
CNTNAP5	129684	broad.mit.edu	37	chr2	125521584	125521584	+	Frame_Shift_Del	DEL	C	C	-																															gaacgccgtctcattttataCagaagcctcttacctccact																										TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:125521584delC	ENST00000431078.1	+	16	2754	c.2390delC	c.(2389-2391)acafs	p.T797fs		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	797	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCATTTTATACAGAAGCCTCT	0.433																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2389-2391)aafs		contactin associated protein-like 5							128	121	123					2																	125521584		1860	4092	5952	SO:0001589	frameshift_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521584delC	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2390delC	2.37:g.125521584delC	ENSP00000399013:p.Thr797fs						p.T797fs	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	2754	+			797			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Frame_Shift_Del	DEL	ENST00000431078.1	37	c.2390delC	CCDS46401.1																																																																																				0.433	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			51	57						51	57	---	---	---	---	-	125521584	C	-	125521584	7	5	468	1	0	1	0	1	0	0	0	0	3650	478	17	0	2452	0	CNTNAP5	2	125521584	Frame_Shift_Del	DEL	C	TCGA-YL-A9WH-01A-11D-A377-08	56639223	125521584	117677789	12	31608											
TMEFF2	23671	broad.mit.edu	37	chr2	193059095	193059095	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaccagagcaattccagccGgtgggcgtttggcagtcact	8	10	12	11	2	1	1	1	0	0	1	2	1	2	1	3	3	3	3	3	3	2	3			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:193059095G>A	ENST00000272771.5	-	1	1340	c.156C>T	c.(154-156)acC>acT	p.T52T	TMEFF2_ENST00000409056.3_Silent_p.T52T|TMEFF2_ENST00000392314.1_Silent_p.T52T	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	52						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AATTCCAGCCGGTGGGCGTTT	0.602																																					Pancreas(50;1277 1381 28487 47072)	ENST00000409056.3																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(154-156)acC>acT		transmembrane protein with EGF-like and two follistatin-like domains 2							77	81	80					2																	193059095		2203	4300	6503	SO:0001819	synonymous_variant	23671					extracellular region|integral to membrane		g.chr2:193059095G>A	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"transmembrane protein TENB2", "tomoregulin", "cancer/testis antigen family 120, member 2"	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.156C>T	2.37:g.193059095G>A						TMEFF2_ENST00000392314.1_Silent_p.T52T|TMEFF2_ENST00000272771.5_Silent_p.T52T	p.T52T			Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		1	155	-			52					Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Silent	SNP	ENST00000272771.5	37	c.156C>T	CCDS2314.1																																																																																				0.602	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		4	101	0	0	0	1	0	4	101					A	193059095	G	A	193059095	2	1	468	1	0	0	0	0	0	0	0	1	16011	1103	39	2		2	TMEFF2	2	193059095	Silent	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08	67537511	193059095	50140278	13	31609											
MAP2	4133	broad.mit.edu	37	chr2	210559664	210559664	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaactggcagcagccggaAgagtcaaagatgagttcagt	14	7	13	7	1	2	4	2	2	0	2	2	5	2	5	1	2	3	3	1	2	3	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:210559664A>G	ENST00000360351.4	+	7	3276	c.2770A>G	c.(2770-2772)Aga>Gga	p.R924G	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R920G|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	924					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			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)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGCAGCCGGAAGAGTCAAAGA	0.453																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				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						c.(2770-2772)Aga>Gga		microtubule-associated protein 2	Estramustine(DB01196)						70	75	73					2																	210559664		2203	4300	6503	SO:0001583	missense	4133				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	g.chr2:210559664A>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2770A>G	2.37:g.210559664A>G	ENSP00000353508:p.Arg924Gly					MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R920G|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	p.R924G	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		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)	7	3276	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	924					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2770A>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430939	0.62844	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.26660	1.72;1.72	5.9	4.7	0.59300	MAP2/Tau projection (1);	0.086607	0.49916	D	0.000130	T	0.43077	0.1231	L	0.54323	1.7	0.36991	D	0.89479	D;D	0.64830	0.992;0.994	P;D	0.63793	0.866;0.918	T	0.52245	-0.8601	10	0.87932	D	0	-23.3209	13.2917	0.60274	0.8683:0.1317:0.0:0.0	.	920;924	P11137-3;P11137	.;MAP2_HUMAN	G	924;920	ENSP00000353508:R924G;ENSP00000392164:R920G	ENSP00000353508:R924G	R	+	1	2	MAP2	210267909	1.000000	0.71417	0.958000	0.39756	0.872000	0.50106	4.028000	0.57246	2.266000	0.75297	0.528000	0.53228	AGA		0.453	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		8	43	0	0	0	1	0	8	43					G	210559664	A	G	210559664	3	3	468	1	0	0	0	0	1	0	0	0	9235	64	3	4	2784	4	MAP2	2	210559664	Missense_Mutation	SNP	A	TCGA-YL-A9WH-01A-11D-A377-08	17500569	210559664	32639709	14	31610											
SAG	6295	broad.mit.edu	37	chr2	234237211	234237211	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgaggcggcctggcagttCttcatgtctgacaagcccct	6	10	12	13	1	3	2	1	2	2	0	3	2	3	2	3	3	1	3	3	3	1	2			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:234237211C>G	ENST00000409110.1	+	8	830	c.600C>G	c.(598-600)ttC>ttG	p.F200L	SAG_ENST00000449594.2_Missense_Mutation_p.F66L	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	200					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CCTGGCAGTTCTTCATGTCTG	0.602																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(598-600)ttC>ttG		S-antigen; retina and pineal gland (arrestin)							100	99	100					2																	234237211		1996	4174	6170	SO:0001583	missense	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234237211C>G		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.600C>G	2.37:g.234237211C>G	ENSP00000386444:p.Phe200Leu					SAG_ENST00000449594.2_Missense_Mutation_p.F66L	p.F200L	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		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)	8	830	+		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)	200					A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	ENST00000409110.1	37	c.600C>G	CCDS46545.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013602	0.75161	.	.	ENSG00000130561	ENST00000252857;ENST00000409110;ENST00000449594	T;T	0.08546	3.08;3.08	4.19	4.19	0.49359	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.12646	0.0307	M	0.83312	2.635	0.58432	D	0.999999	P;P	0.50369	0.815;0.934	B;B	0.37508	0.157;0.252	T	0.04579	-1.0941	10	0.87932	D	0	-8.9773	11.6988	0.51558	0.0:0.9134:0.0:0.0866	.	66;200	B7Z7L5;P10523	.;ARRS_HUMAN	L	200;200;66	ENSP00000386444:F200L;ENSP00000392889:F66L	ENSP00000252857:F200L	F	+	3	2	SAG	233901950	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.318000	0.43779	2.342000	0.79632	0.655000	0.94253	TTC		0.602	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		13	40	0	0	0	1	0	13	40					G	234237211	C	G	234237211	3	3	468	1	0	0	0	0	1	0	0	0	13808	912	32	5	626	5	SAG	2	234237211	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	23677547	234237211	8962162	15	31611											
SCN11A	11280	broad.mit.edu	37	chr3	38950678	38950678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtagagcccagtagtaCgcagggtctgcaaaggacag	12	6	14	9	1	1	2	0	1	1	1	1	3	1	3	1	2	3	5	1	2	4	3	rs138034948	byFrequency	TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr3:38950678C>T	ENST00000302328.3	-	9	1307	c.1109G>A	c.(1108-1110)cGt>cAt	p.R370H	AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000456224.3_Missense_Mutation_p.R370H|SCN11A_ENST00000450244.1_Missense_Mutation_p.R370H|SCN11A_ENST00000444237.2_Missense_Mutation_p.R370H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	370					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R370H(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCCAGTAGTACGCAGGGTCTG	0.453													C|||	8	0.00159744	0.0061	0	5008	,	,		21836	0		0	False		,,,				2504	0					ENST00000302328.3																			2	Substitution - Missense(2)	p.R370H(2)	endometrium(1)|pancreas(1)	NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(1108-1110)cGt>cAt		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)	C	HIS/ARG	22,4384	28.1+/-56.4	0,22,2181	120	116	118		1109	0.9	0	3	dbSNP_134	118	0,8600		0,0,4300	yes	missense	SCN11A	NM_014139.2	29	0,22,6481	TT,TC,CC		0.0,0.4993,0.1692	probably-damaging	370/1792	38950678	22,12984	2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38950678C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1109G>A	3.37:g.38950678C>T	ENSP00000307599:p.Arg370His					SCN11A_ENST00000456224.3_Missense_Mutation_p.R370H|SCN11A_ENST00000444237.2_Missense_Mutation_p.R370H|SCN11A_ENST00000450244.1_Missense_Mutation_p.R370H	p.R370H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	9	1307	-			370					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.1109G>A	CCDS33737.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	15.09	2.728822	0.48833	0.004993	0.0	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08	5.2	0.861	0.19048	Ion transport (1);	0.316995	0.34555	N	0.003867	D	0.96892	0.8985	M	0.78344	2.41	0.09310	N	1	B	0.30973	0.302	B	0.25759	0.063	D	0.92935	0.6367	10	0.66056	D	0.02	.	7.8157	0.29258	0.3952:0.5253:0.0:0.0795	.	370	Q9UI33	SCNBA_HUMAN	H	370	ENSP00000307599:R370H;ENSP00000400945:R370H;ENSP00000416757:R370H;ENSP00000408028:R370H	ENSP00000307599:R370H	R	-	2	0	SCN11A	38925682	0.012000	0.17670	0.000000	0.03702	0.388000	0.30384	1.278000	0.33179	-0.141000	0.11374	-0.535000	0.04281	CGT		0.453	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		7	56	0	0	0	1	0	7	56					T	38950678	C	T	38950678	3	4	468	1	0	0	0	0	1	0	0	0	13913	536	19	1	4338	1	SCN11A	3	38950678	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08		38950678	159071752	16	31612											
RTP1	132112	broad.mit.edu	37	chr3	186917361	186917361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactgctcctggtgctggCacacctggcagtcgccctac	5	9	10	17	1	0	0	0	0	0	0	3	0	2	0	4	3	3	4	4	3	1	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr3:186917361C>T	ENST00000312295.4	+	2	325	c.295C>T	c.(295-297)Cac>Tac	p.H99Y	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	99					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CTGGTGCTGGCACACCTGGCA	0.647																																						ENST00000312295.4																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(295-297)Cac>Tac		receptor (chemosensory) transporter protein 1							75	65	69					3																	186917361		2203	4300	6503	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917361C>T	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"Receptor transporter proteins"	28580	protein-coding gene	gene with protein product	"receptor transporting protein 1", "zinc finger, 3CxxC-type 1"	609137	"receptor transporter protein 1"			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.295C>T	3.37:g.186917361C>T	ENSP00000311712:p.His99Tyr					RP11-208N14.4_ENST00000356133.3_RNA	p.H99Y	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	325	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		99						Missense_Mutation	SNP	ENST00000312295.4	37	c.295C>T	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836433	0.71373	.	.	ENSG00000175077	ENST00000312295	T	0.22945	1.93	5.7	4.83	0.62350	.	0.093484	0.64402	D	0.000001	T	0.25754	0.0627	N	0.22421	0.69	0.26790	N	0.969413	P	0.45126	0.851	P	0.50192	0.634	T	0.06607	-1.0817	10	0.66056	D	0.02	.	10.6512	0.45649	0.0:0.9121:0.0:0.0879	.	99	P59025	RTP1_HUMAN	Y	99	ENSP00000311712:H99Y	ENSP00000311712:H99Y	H	+	1	0	RTP1	188400055	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.103000	0.41806	1.430000	0.47334	0.561000	0.74099	CAC		0.647	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		34	57	0	0	0	1	0	34	57					T	186917361	C	T	186917361	3	4	468	1	0	0	0	0	1	0	0	0	13733	710	25	3	301	3	RTP1	3	186917361	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	147966683	186917361	11105069	17	31613											
GRK4	2868	broad.mit.edu	37	chr4	3029648	3029648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaacacacaggacacatccGgatttcagacctcggtttgg	11	9	10	11	2	1	2	1	1	0	1	3	4	2	4	2	4	1	1	2	4	1	2	rs540093348		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr4:3029648G>A	ENST00000398052.4	+	11	1323	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	GRK4_ENST00000345167.6_Missense_Mutation_p.R295Q|GRK4_ENST00000504933.1_Missense_Mutation_p.R327Q|GRK4_ENST00000398051.4_Missense_Mutation_p.R295Q|GRK4_ENST00000509545.1_3'UTR	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	327	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGACACATCCGGATTTCAGAC	0.483																																						ENST00000398052.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(979-981)cGg>cAg		G protein-coupled receptor kinase 4							136	132	133					4																	3029648		2203	4300	6503	SO:0001583	missense	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3029648G>A		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"G protein-coupled receptor kinase 2-like (Drosophila)"	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.980G>A	4.37:g.3029648G>A	ENSP00000381129:p.Arg327Gln					GRK4_ENST00000345167.6_Missense_Mutation_p.R295Q|GRK4_ENST00000504933.1_Missense_Mutation_p.R327Q|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000398051.4_Missense_Mutation_p.R295Q	p.R327Q	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	11	1323	+			327			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	c.980G>A	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	G	35	5.418930	0.96092	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	T	0.49745	0.1575	M	0.64080	1.96	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75020	0.955;0.977;0.974;0.985	T	0.51624	-0.8682	10	0.87932	D	0	-14.2282	17.7563	0.88450	0.0:0.0:1.0:0.0	.	295;295;327;327	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	Q	295;327;295;327	ENSP00000381128:R295Q;ENSP00000381129:R327Q;ENSP00000264764:R295Q;ENSP00000427445:R327Q	ENSP00000264764:R295Q	R	+	2	0	GRK4	2999446	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.772000	0.85439	2.419000	0.82065	0.558000	0.71614	CGG		0.483	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		15	44	0	0	0	1	0	15	44					A	3029648	G	A	3029648	3	1	468	1	0	0	0	0	1	0	0	0	6791	1116	39	2	1022	2	GRK4	4	3029648	Missense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08		3029648	188124628	18	31614											
FGA	2243	broad.mit.edu	37	chr4	155507284	155507284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctcctttagaagtgaccaGtttttctgtgtggtactctc	7	17	8	9	0	3	2	0	1	3	1	5	2	3	2	2	1	1	2	2	1	3	5			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr4:155507284G>T	ENST00000302053.3	-	5	1375	c.1297C>A	c.(1297-1299)Ctg>Atg	p.L433M	FGA_ENST00000403106.3_Missense_Mutation_p.L433M	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	433					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GAAGTGACCAGTTTTTCTGTG	0.498																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1297-1299)Ctg>Atg		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						180	189	186					4																	155507284		2203	4300	6503	SO:0001583	missense	2243				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	g.chr4:155507284G>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1297C>A	4.37:g.155507284G>T	ENSP00000306361:p.Leu433Met					FGA_ENST00000403106.3_Missense_Mutation_p.L433M	p.L433M	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1375	-	all_hematologic(180;0.215)	Renal(120;0.0458)	433					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1297C>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884242	0.51908	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.60040	0.22;2.64	5.89	-1.32	0.09201	.	4.073680	0.00780	N	0.001269	T	0.73442	0.3587	M	0.78916	2.43	0.09310	N	1	D;D	0.76494	0.999;0.998	D;D	0.69479	0.964;0.915	T	0.55780	-0.8087	10	0.72032	D	0.01	.	5.367	0.16119	0.4415:0.2612:0.2973:0.0	.	433;433	P02671-2;P02671	.;FIBA_HUMAN	M	433	ENSP00000306361:L433M;ENSP00000385981:L433M	ENSP00000306361:L433M	L	-	1	2	FGA	155726734	0.022000	0.18835	0.099000	0.21106	0.875000	0.50365	-0.075000	0.11431	-0.083000	0.12618	0.655000	0.94253	CTG		0.498	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		34	65	1	0	4.23469e-30	1	4.87793e-30	34	65					T	155507284	G	T	155507284	3	4	468	1	0	0	0	0	1	0	0	0	5830	1020	36	5	1355	5	FGA	4	155507284	Missense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08	152477636	155507284	35646992	19	31615											
SNX25	83891	broad.mit.edu	37	chr4	186241903	186241903	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagattcttcagtttgaagAtatcttggccaatacgttct	11	16	7	7	1	4	3	1	1	3	2	4	3	4	3	1	1	1	2	1	1	5	8			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr4:186241903A>G	ENST00000504273.1	+	8	1163	c.869A>G	c.(868-870)gAt>gGt	p.D290G	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.D290G			Q9H3E2	SNX25_HUMAN	sorting nexin 25	290	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			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)		CAGTTTGAAGATATCTTGGCC	0.328																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(868-870)gAt>gGt		sorting nexin 25							92	93	93					4																	186241903		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186241903A>G	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.869A>G	4.37:g.186241903A>G	ENSP00000426255:p.Asp290Gly					SNX25_ENST00000264694.8_Missense_Mutation_p.D290G|SNX25_ENST00000512853.1_3'UTR	p.D290G			Q9H3E2	SNX25_HUMAN		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)	8	1163	+		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)	290			RGS.		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.869A>G	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068596	0.76301	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.01998	4.51;4.51	5.26	5.26	0.73747	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.172152	0.50627	D	0.000116	T	0.05318	0.0141	L	0.46157	1.445	0.58432	D	0.999993	P;P	0.45283	0.855;0.645	P;P	0.49502	0.613;0.455	T	0.54669	-0.8259	10	0.31617	T	0.26	-17.1308	15.4661	0.75403	1.0:0.0:0.0:0.0	.	61;290	Q8N6K3;Q9H3E2	.;SNX25_HUMAN	G	290	ENSP00000426255:D290G;ENSP00000264694:D290G	ENSP00000264694:D290G	D	+	2	0	SNX25	186478897	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	8.829000	0.92055	2.123000	0.65237	0.459000	0.35465	GAT		0.328	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		20	35	0	0	0	1	0	20	35					G	186241903	A	G	186241903	3	3	468	1	0	0	0	0	1	0	0	0	14896	333	12	4	895	4	SNX25	4	186241903	Missense_Mutation	SNP	A	TCGA-YL-A9WH-01A-11D-A377-08	30734619	186241903	4912373	20	31616											
DMXL1	1657	broad.mit.edu	37	chr5	118525452	118525452	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacaaacgttttaggccGtcaaaaatgtcttgcagaga	15	9	9	8	2	2	2	1	0	1	2	2	3	2	2	1	1	3	2	1	1	5	3			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr5:118525452G>A	ENST00000311085.8	+	29	7265	c.7185G>A	c.(7183-7185)ccG>ccA	p.P2395P	DMXL1_ENST00000539542.1_Silent_p.P2395P	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2395										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTTTTAGGCCGTCAAAAATGT	0.408																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(7183-7185)ccG>ccA		Dmx-like 1							105	106	105					5																	118525452		2202	4300	6502	SO:0001819	synonymous_variant	1657							g.chr5:118525452G>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7185G>A	5.37:g.118525452G>A						DMXL1_ENST00000539542.1_Silent_p.P2395P	p.P2395P	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	29	7265	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2395						Silent	SNP	ENST00000311085.8	37	c.7185G>A	CCDS4125.1																																																																																				0.408	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		3	94	0	0	0	1	0	3	94					A	118525452	G	A	118525452	2	1	468	1	0	0	0	0	0	0	0	1	4594	1132	40	1		1	DMXL1	5	118525452	Silent	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08		118525452	62389808	21	31617											
LSM11	134353	broad.mit.edu	37	chr5	157181082	157181082	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgaacgggattcttcacTgactctcactagggtaggca	11	11	10	9	1	3	2	2	2	2	0	4	3	3	3	0	3	1	2	0	3	4	5			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr5:157181082T>G	ENST00000286307.5	+	3	715	c.659T>G	c.(658-660)cTg>cGg	p.L220R		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	220					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATTCTTCACTGACTCTCACT	0.473																																						ENST00000286307.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(658-660)cTg>cGg		LSM11, U7 small nuclear RNA associated							131	109	117					5																	157181082		2203	4300	6503	SO:0001583	missense	134353				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding	g.chr5:157181082T>G	AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.659T>G	5.37:g.157181082T>G	ENSP00000286307:p.Leu220Arg						p.L220R	NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	715	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	220					A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	ENST00000286307.5	37	c.659T>G	CCDS4342.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.711253	0.89112	.	.	ENSG00000155858	ENST00000286307	T	0.46451	0.87	6.17	6.17	0.99709	Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	L	0.41236	1.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.59252	-0.7489	10	0.72032	D	0.01	-9.4491	16.8222	0.85835	0.0:0.0:0.0:1.0	.	220	P83369	LSM11_HUMAN	R	220	ENSP00000286307:L220R	ENSP00000286307:L220R	L	+	2	0	LSM11	157113660	1.000000	0.71417	0.938000	0.37757	0.995000	0.86356	7.272000	0.78516	2.371000	0.80710	0.533000	0.62120	CTG		0.473	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	NM_173491		30	21	0	0	0	1	0	30	21					G	157181082	T	G	157181082	3	3	468	1	0	0	0	0	1	0	0	0	9052	1580	55	5	669	5	LSM11	5	157181082	Missense_Mutation	SNP	T	TCGA-YL-A9WH-01A-11D-A377-08	38655630	157181082	23734178	22	31618											
ZNF76	7629	broad.mit.edu	37	chr6	35259145	35259145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcaaggccttcaagacctCaggagacctgcagaagcatg	13	5	11	12	0	2	3	2	0	0	3	2	4	2	3	3	2	3	3	3	2	3	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr6:35259145C>T	ENST00000373953.3	+	8	982	c.716C>T	c.(715-717)tCa>tTa	p.S239L	ZNF76_ENST00000339411.5_Missense_Mutation_p.S239L|ZNF76_ENST00000440666.2_Missense_Mutation_p.S213L	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	239					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TTCAAGACCTCAGGAGACCTG	0.552																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(715-717)tCa>tTa		zinc finger protein 76							90	71	77					6																	35259145		2203	4300	6503	SO:0001583	missense	7629				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	g.chr6:35259145C>T	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.716C>T	6.37:g.35259145C>T	ENSP00000363064:p.Ser239Leu					ZNF76_ENST00000440666.2_Missense_Mutation_p.S213L|ZNF76_ENST00000339411.5_Missense_Mutation_p.S239L	p.S239L	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN			8	982	+			239					Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.716C>T	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504092	0.96371	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.20738	3.02;2.05;2.05;2.44	5.35	5.35	0.76521	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36932	N	0.002325	T	0.34542	0.0901	L	0.46567	1.45	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.991;0.996;0.998	T	0.02789	-1.1110	10	0.87932	D	0	.	18.5892	0.91202	0.0:1.0:0.0:0.0	.	239;239;239	B7Z851;P36508-2;P36508	.;.;ZNF76_HUMAN	L	239;239;239;239;213;239	ENSP00000419106:S239L;ENSP00000363064:S239L;ENSP00000392243:S213L;ENSP00000344097:S239L	ENSP00000344097:S239L	S	+	2	0	ZNF76	35367123	1.000000	0.71417	0.975000	0.42487	0.953000	0.61014	7.609000	0.82925	2.941000	0.99782	0.655000	0.94253	TCA		0.552	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		12	7	0	0	0	1	0	12	7					T	35259145	C	T	35259145	3	4	468	1	0	0	0	0	1	0	0	0	18132	838	29	3	742	3	ZNF76	6	35259145	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08		35259145	135855922	23	31619											
PRKAR1B	5575	broad.mit.edu	37	chr7	720338	720338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtgagtttgacttttgcCgcgccaaaatctgcctgttt	7	15	9	10	2	1	2	0	2	1	0	1	2	1	2	3	0	2	2	3	0	2	4	rs140110814		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:720338C>T	ENST00000406797.1	-	3	377	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	PRKAR1B_ENST00000537384.1_Missense_Mutation_p.R68Q|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.R68Q|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.R68Q|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.R68Q	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	68	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			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)		TGACTTTTGCCGCGCCAAAAT	0.607																																						ENST00000406797.1																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(202-204)cGg>cAg		protein kinase, cAMP-dependent, regulatory, type I, beta		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	82	78	80		203,203,203,203,203,203	0.4	0.1	7	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense,missense	PRKAR1B	NM_001164758.1,NM_001164759.1,NM_001164760.1,NM_001164761.1,NM_001164762.1,NM_002735.2	43,43,43,43,43,43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign,benign,benign,benign	68/382,68/382,68/382,68/382,68/382,68/382	720338	2,13004	2203	4300	6503	SO:0001583	missense	5575				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	g.chr7:720338C>T	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.203G>A	7.37:g.720338C>T	ENSP00000385749:p.Arg68Gln					PRKAR1B_ENST00000537384.1_Missense_Mutation_p.R68Q|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.R68Q|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.R68Q|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.R68Q	p.R68Q	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN		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)	3	377	-		Ovarian(82;0.0779)	68			Dimerization and phosphorylation.		Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.203G>A	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	C	0.751	-0.772760	0.02951	2.27E-4	1.16E-4	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000430040;ENST00000414568;ENST00000417852	D;D;D;D;D;D;D;D	0.92199	-1.99;-1.99;-1.99;-1.99;-1.99;-2.99;-1.85;-2.97	5.06	0.422	0.16457	.	0.273076	0.29956	N	0.010761	T	0.67581	0.2908	N	0.00707	-1.245	0.45150	D	0.998169	B	0.02656	0.0	B	0.04013	0.001	T	0.53940	-0.8367	10	0.08837	T	0.75	-10.6034	4.1771	0.10356	0.1454:0.4803:0.0:0.3743	.	68	P31321	KAP1_HUMAN	Q	68;68;68;68;68;68;13;68	ENSP00000440449:R68Q;ENSP00000444487:R68Q;ENSP00000385749:R68Q;ENSP00000385349:R68Q;ENSP00000353415:R68Q;ENSP00000402648:R68Q;ENSP00000394633:R13Q;ENSP00000406670:R68Q	ENSP00000353415:R68Q	R	-	2	0	PRKAR1B	686864	0.909000	0.30893	0.083000	0.20561	0.067000	0.16453	0.696000	0.25541	-0.233000	0.09797	-0.367000	0.07326	CGG		0.607	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			3	50	0	0	0	1	0	3	50					T	720338	C	T	720338	3	4	468	1	0	0	0	0	1	0	0	0	12504	652	23	2	978	2	PRKAR1B	7	720338	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08		720338	158418325	24	31620											
PKD1L1	168507	broad.mit.edu	37	chr7	47920335	47920335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtaacatacccacagacaCttgcaggacgtacgtctctc	12	9	7	13	2	1	1	0	0	1	1	3	2	1	2	1	1	4	3	1	1	3	4	rs539595370		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:47920335C>A	ENST00000289672.2	-	21	3561	c.3511G>T	c.(3511-3513)Gtg>Ttg	p.V1171L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1171	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		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						CCCACAGACACTTGCAGGACG	0.473																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				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						c.(3511-3513)Gtg>Ttg		polycystic kidney disease 1 like 1							208	160	177					7																	47920335		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47920335C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3511G>T	7.37:g.47920335C>A	ENSP00000289672:p.Val1171Leu						p.V1171L	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			21	3561	-			1171			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.3511G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608944	0.28623	.	.	ENSG00000158683	ENST00000289672	T	0.62639	0.01	4.43	4.43	0.53597	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.457958	0.17983	N	0.155463	T	0.42630	0.1211	N	0.14661	0.345	0.09310	N	1	B	0.16603	0.018	B	0.15870	0.014	T	0.12400	-1.0549	10	0.14252	T	0.57	-16.902	12.9662	0.58485	0.0:1.0:0.0:0.0	.	1171	Q8TDX9	PK1L1_HUMAN	L	1171	ENSP00000289672:V1171L	ENSP00000289672:V1171L	V	-	1	0	PKD1L1	47886860	0.989000	0.36119	0.037000	0.18230	0.707000	0.40811	3.302000	0.51849	2.207000	0.71202	0.650000	0.86243	GTG		0.473	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		6	55	1	0	6.31663e-08	1	6.84301e-08	6	55					A	47920335	C	A	47920335	3	1	468	1	0	0	0	0	1	0	0	0	11964	565	20	5	5186	5	PKD1L1	7	47920335	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	47199997	47920335	111218328	25	31621											
ABCA13	154664	broad.mit.edu	37	chr7	48280530	48280530	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggcatgggccatagtctgGaggctctcaggaatcagttt	9	10	13	9	0	3	0	2	0	2	0	4	2	3	2	1	5	0	3	1	5	2	2			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:48280530G>T	ENST00000435803.1	+	10	1153	c.1129G>T	c.(1129-1131)Gag>Tag	p.E377*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	377					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						CCATAGTCTGGAGGCTCTCAG	0.493																																						ENST00000435803.1																			0				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						c.(1129-1131)Gag>Tag		ATP-binding cassette, sub-family A (ABC1), member 13							100	100	100					7																	48280530		1998	4175	6173	SO:0001587	stop_gained	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48280530G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1129G>T	7.37:g.48280530G>T	ENSP00000411096:p.Glu377*						p.E377*	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			10	1153	+			377					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	c.1129G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399949	0.83120	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.6	2.69	0.31865	.	0.608356	0.14527	N	0.314061	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	7.5519	0.27802	0.087:0.3193:0.5937:0.0	.	.	.	.	X	377	.	ENSP00000411096:E377X	E	+	1	0	ABCA13	48251076	0.000000	0.05858	0.024000	0.17045	0.013000	0.08279	0.047000	0.14056	0.262000	0.21774	0.655000	0.94253	GAG		0.493	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		23	38	1	0	2.98393e-07	1	3.19456e-07	23	38					T	48280530	G	T	48280530	4	4	468	1	0	0	0	0	0	1	0	0	31	1175	41	5	996	5	ABCA13	7	48280530	Nonsense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08	360195	48280530	110858133	26	31622											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558913	113558913	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtatatgtcttcagaagaatCagaacctcgtctacttggtt	11	14	8	8	1	4	3	2	0	2	3	5	3	4	3	1	1	2	2	1	1	6	6			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:113558913C>G	ENST00000284601.3	-	1	207	c.139G>C	c.(139-141)Gat>Cat	p.D47H		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	47					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.D47Y(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCAGAAGAATCAGAACCTCGT	0.368																																						ENST00000284601.3																			1	Substitution - Missense(1)	p.D47Y(1)	kidney(1)	NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(139-141)Gat>Cat		protein phosphatase 1, regulatory subunit 3A							83	81	82					7																	113558913		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558913C>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.139G>C	7.37:g.113558913C>G	ENSP00000284601:p.Asp47His						p.D47H	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			1	207	-			47					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.139G>C	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185341	0.57909	.	.	ENSG00000154415	ENST00000284601	T	0.17054	2.3	6.17	6.17	0.99709	.	0.607817	0.17550	N	0.170216	T	0.27313	0.0670	L	0.50333	1.59	0.26332	N	0.977503	D	0.59357	0.985	P	0.49502	0.613	T	0.07139	-1.0788	10	0.49607	T	0.09	-0.1211	17.0623	0.86550	0.1275:0.8725:0.0:0.0	.	47	Q16821	PPR3A_HUMAN	H	47	ENSP00000284601:D47H	ENSP00000284601:D47H	D	-	1	0	PPP1R3A	113346149	0.532000	0.26346	1.000000	0.80357	0.998000	0.95712	2.154000	0.42291	2.941000	0.99782	0.655000	0.94253	GAT		0.368	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		17	129	0	0	0	1	0	17	129					G	113558913	C	G	113558913	3	3	468	1	0	0	0	0	1	0	0	0	12371	826	29	5	3245	5	PPP1R3A	7	113558913	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	65278383	113558913	45579750	27	31623											
CADPS2	93664	broad.mit.edu	37	chr7	122111518	122111518	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccattttctgaatgttccatCagttctgcaaggtagcagag	10	13	9	9	0	3	2	1	1	2	1	4	2	4	2	2	1	2	5	2	1	3	5			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:122111518C>G	ENST00000449022.2	-	14	2116	c.2097G>C	c.(2095-2097)ctG>ctC	p.L699L	CADPS2_ENST00000334010.7_Silent_p.L700L|CADPS2_ENST00000313070.7_Silent_p.L696L|CADPS2_ENST00000412584.2_Silent_p.L696L	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	699					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AATGTTCCATCAGTTCTGCAA	0.478																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(2098-2100)ctG>ctC		Ca++-dependent secretion activator 2							104	107	106					7																	122111518		1976	4181	6157	SO:0001819	synonymous_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122111518C>G		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2097G>C	7.37:g.122111518C>G						CADPS2_ENST00000412584.2_Silent_p.L696L|CADPS2_ENST00000449022.2_Silent_p.L699L|CADPS2_ENST00000313070.7_Silent_p.L696L	p.L700L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			13	2521	-			699					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Silent	SNP	ENST00000449022.2	37	c.2100G>C	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	C	9.068	0.996121	0.19043	.	.	ENSG00000081803	ENST00000397721	.	.	.	6.17	2.14	0.27477	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50541	-0.8816	4	.	.	.	-11.3774	8.6719	0.34156	0.0:0.6385:0.2342:0.1273	.	.	.	.	H	345	.	.	D	-	1	0	CADPS2	121898754	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.973000	0.29422	0.463000	0.27118	0.655000	0.94253	GAT		0.478	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		11	15	0	0	0	1	0	11	15					G	122111518	C	G	122111518	2	3	468	1	0	0	0	0	0	0	0	1	2571	813	29	5		5	CADPS2	7	122111518	Silent	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	8552605	122111518	37027145	28	31624											
TNPO3	23534	broad.mit.edu	37	chr7	128694737	128694737	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccaagccaaaaagaggCgcgctcctttccgctgggat	9	7	10	15	3	0	1	0	0	0	1	3	2	3	2	5	2	1	2	5	2	3	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:128694737C>A	ENST00000265388.5	-	1	231	c.88G>T	c.(88-90)Gcc>Tcc	p.A30S	TNPO3_ENST00000482320.1_5'UTR|TNPO3_ENST00000471166.1_Missense_Mutation_p.A30S|TNPO3_ENST00000393245.1_Missense_Mutation_p.A30S|TNPO3_ENST00000471234.1_Missense_Mutation_p.A30S			Q9Y5L0	TNPO3_HUMAN	transportin 3	30					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CAAAAAGAGGCGCGCTCCTTT	0.652																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(88-90)Gcc>Tcc		transportin 3							68	60	63					7																	128694737		2203	4300	6503	SO:0001583	missense	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128694737C>A	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.88G>T	7.37:g.128694737C>A	ENSP00000265388:p.Ala30Ser					TNPO3_ENST00000265388.5_Missense_Mutation_p.A30S|TNPO3_ENST00000482320.1_5'UTR|TNPO3_ENST00000471166.1_Missense_Mutation_p.A30S|TNPO3_ENST00000471234.1_Missense_Mutation_p.A30S	p.A30S	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			1	461	-			30					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	c.88G>T	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	C	35	5.467436	0.96257	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000471234;ENST00000471166	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.51	4.61	0.57282	Armadillo-like helical (1);Armadillo-type fold (1);	0.057150	0.64402	N	0.000001	D	0.93032	0.7782	H	0.94385	3.53	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.79784	0.992;0.904;0.993	D	0.94393	0.7616	10	0.66056	D	0.02	-9.7408	13.5308	0.61621	0.1571:0.8429:0.0:0.0	.	30;30;30	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	S	30	ENSP00000376936:A30S;ENSP00000265388:A30S;ENSP00000418646:A30S;ENSP00000418267:A30S	ENSP00000265388:A30S	A	-	1	0	TNPO3	128481973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.802000	0.62539	1.396000	0.46663	0.655000	0.94253	GCC		0.652	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		19	14	1	0	2.4624e-09	1	2.69974e-09	19	14					A	128694737	C	A	128694737	3	1	468	1	0	0	0	0	1	0	0	0	16334	768	27	5	2771	5	TNPO3	7	128694737	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	6583219	128694737	30443926	29	31625											
TMEM140	55281	broad.mit.edu	37	chr7	134849221	134849221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccaaggcctcggtggcgcGaccagctgctgttcatgagc	6	7	14	14	3	1	1	1	1	0	0	2	2	1	1	3	3	3	3	3	3	1	1	rs151072952		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:134849221G>A	ENST00000275767.3	+	2	251	c.28G>A	c.(28-30)Gac>Aac	p.D10N	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	10						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)	5						TCGGTGGCGCGACCAGCTGCT	0.597																																						ENST00000275767.2																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(28-30)Gac>Aac		transmembrane protein 140		G	ASN/ASP	0,4406		0,0,2203	131	114	120		28	-11.4	0	7	dbSNP_134	120	1,8599		0,1,4299	no	missense	TMEM140	NM_018295.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	10/186	134849221	1,13005	2203	4300	6503	SO:0001583	missense	55281					integral to membrane		g.chr7:134849221G>A	AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.28G>A	7.37:g.134849221G>A	ENSP00000275767:p.Asp10Asn					C7orf49_ENST00000459937.1_Intron	p.D10N	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN			2	251	+			10					A4D1P9|Q8WUC3	Missense_Mutation	SNP	ENST00000275767.3	37	c.28G>A	CCDS5837.1	.	.	.	.	.	.	.	.	.	.	G	7.258	0.604574	0.14002	0.0	1.16E-4	ENSG00000146859	ENST00000275767;ENST00000456488	T	0.17854	2.25	5.68	-11.4	0.00090	.	2.045250	0.01713	N	0.027843	T	0.04815	0.0130	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33059	-0.9883	10	0.06099	T	0.92	0.5804	10.4633	0.44592	0.2477:0.2691:0.4833:0.0	.	10	Q9NV12	TM140_HUMAN	N	10	ENSP00000275767:D10N	ENSP00000275767:D10N	D	+	1	0	TMEM140	134499761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.168000	0.00281	-1.650000	0.01506	-1.259000	0.01468	GAC		0.597	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	NM_018295		22	61	0	0	0	1	0	22	61					A	134849221	G	A	134849221	3	1	468	1	0	0	0	0	1	0	0	0	16052	1058	37	2	30	2	TMEM140	7	134849221	Missense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08	6154484	134849221	24289442	30	31626											
MLL3	58508	broad.mit.edu	37	chr7	151845693	151845693	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcaccagcctgagtctcaTagacctccgtggaccacaga	11	6	10	14	1	1	3	1	1	1	2	3	4	2	4	5	2	1	1	5	2	1	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:151845693T>C	ENST00000262189.6	-	52	13537	c.13319A>G	c.(13318-13320)tAt>tGt	p.Y4440C	KMT2C_ENST00000355193.2_Missense_Mutation_p.Y4497C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4440					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Y4497C(1)|p.Y4440C(1)									CTGAGTCTCATAGACCTCCGT	0.507																																						ENST00000355193.2																			2	Substitution - Missense(2)	p.Y4497C(1)|p.Y4440C(1)	prostate(2)								c.(13489-13491)tAt>tGt		lysine (K)-specific methyltransferase 2C							115	112	113					7																	151845693		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151845693T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13319A>G	7.37:g.151845693T>C	ENSP00000262189:p.Tyr4440Cys					KMT2C_ENST00000262189.6_Missense_Mutation_p.Y4440C	p.Y4497C							53	13708	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.13490A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977861	0.53720	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	T;T;T	0.70986	-0.53;-0.53;-0.53	5.24	5.24	0.73138	.	0.000000	0.39407	U	0.001380	D	0.82508	0.5052	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	0.988;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.999	D	0.84097	0.0393	10	0.59425	D	0.04	.	15.4242	0.75038	0.0:0.0:0.0:1.0	.	4440;3558;4497	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	C	4440;4497;1057	ENSP00000262189:Y4440C;ENSP00000347325:Y4497C;ENSP00000410411:Y1057C	ENSP00000262189:Y4440C	Y	-	2	0	MLL3	151476626	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.997000	0.88414	2.103000	0.63969	0.455000	0.32223	TAT		0.507	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			45	68	0	0	0	1	0	45	68					C	151845693	T	C	151845693	3	2	468	1	0	0	0	0	1	0	0	0	9622	1406	49	4	1448	4	MLL3	7	151845693	Missense_Mutation	SNP	T	TCGA-YL-A9WH-01A-11D-A377-08	16996472	151845693	7292970	31	31627											
STAU2	27067	broad.mit.edu	37	chr8	74529544	74529544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacctgaggagatctttctgGaataggttcattctgcagtg	9	13	11	8	0	4	2	1	1	3	1	4	4	4	3	1	3	1	2	1	3	2	4			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr8:74529544G>A	ENST00000524300.1	-	7	903	c.553C>T	c.(553-555)Cca>Tca	p.P185S	STAU2_ENST00000355780.5_Missense_Mutation_p.P153S|STAU2_ENST00000521451.1_5'UTR|STAU2_ENST00000519961.1_Missense_Mutation_p.P185S|STAU2_ENST00000521727.1_Missense_Mutation_p.P165S|STAU2_ENST00000517542.1_Missense_Mutation_p.P147S|STAU2_ENST00000523558.1_Missense_Mutation_p.P13S|STAU2_ENST00000521210.1_Missense_Mutation_p.P81S|STAU2_ENST00000522695.1_Missense_Mutation_p.P153S|STAU2_ENST00000522509.1_Missense_Mutation_p.P153S	NM_001164380.1|NM_001164381.1	NP_001157852.1|NP_001157853.1	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	185					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GATCTTTCTGGAATAGGTTCA	0.398																																						ENST00000355780.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19						c.(457-459)Cca>Tca		staufen double-stranded RNA binding protein 2							147	133	138					8																	74529544		2203	4300	6503	SO:0001583	missense	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74529544G>A	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"staufen (Drosophila, RNA-binding protein) homolog 2", "staufen, RNA binding protein, homolog 2 (Drosophila)"			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000524300.1:c.553C>T	8.37:g.74529544G>A	ENSP00000428756:p.Pro185Ser					STAU2_ENST00000519961.1_Missense_Mutation_p.P185S|STAU2_ENST00000523558.1_Missense_Mutation_p.P13S|STAU2_ENST00000517542.1_Missense_Mutation_p.P147S|STAU2_ENST00000522509.1_Missense_Mutation_p.P153S|STAU2_ENST00000524300.1_Missense_Mutation_p.P185S|STAU2_ENST00000522695.1_Missense_Mutation_p.P153S|STAU2_ENST00000521210.1_Missense_Mutation_p.P81S|STAU2_ENST00000521727.1_Missense_Mutation_p.P165S|STAU2_ENST00000521451.1_5'UTR	p.P153S	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		6	675	-	Breast(64;0.0138)		185			DRBM 2.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000524300.1	37	c.457C>T	CCDS55247.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793405	0.70452	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000522509;ENST00000517542;ENST00000518767;ENST00000521447	T;T;T;T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;0.97;0.05;-0.09;-0.09;-0.09;-0.09;-0.09;0.81;-0.09	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.77890	0.4198	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D;D;B	0.89917	1.0;0.999;1.0;1.0;0.997;1.0;0.402	D;D;D;D;P;D;B	0.87578	0.996;0.974;0.996;0.998;0.829;0.996;0.109	T	0.78685	-0.2108	10	0.54805	T	0.06	-23.6113	18.8698	0.92308	0.0:0.0:1.0:0.0	.	165;81;13;153;185;153;185	E7EPX0;E9PEI3;E7ER74;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.	S	153;185;13;81;153;185;165;153;147;13;153	ENSP00000428456:P153S;ENSP00000428756:P185S;ENSP00000428741:P13S;ENSP00000429173:P81S;ENSP00000348026:P153S;ENSP00000430907:P185S;ENSP00000429973:P165S;ENSP00000427977:P153S;ENSP00000431111:P147S;ENSP00000429005:P13S;ENSP00000428829:P153S	ENSP00000344030:P13S	P	-	1	0	STAU2	74692098	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	9.188000	0.94921	2.520000	0.84964	0.555000	0.69702	CCA		0.398	STAU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379000.2	NM_001164380		10	30	0	0	0	1	0	10	30					A	74529544	G	A	74529544	3	1	468	1	0	0	0	0	1	0	0	0	15272	1174	41	3	1319	3	STAU2	8	74529544	Missense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08		74529544	71834478	32	31628											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123215894	123215894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcagcaggtcgccctccGtggccacagtctgcactgag	7	8	11	15	2	2	1	1	1	2	0	5	1	3	1	3	2	2	2	3	2	0	0	rs112982005	byFrequency	TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr9:123215894G>A	ENST00000349780.4	-	21	2812	c.2633C>T	c.(2632-2634)aCg>aTg	p.T878M	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.T878M|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.T846M|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.T878M	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	878					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GTCGCCCTCCGTGGCCACAGT	0.542																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(2632-2634)aCg>aTg		CDK5 regulatory subunit associated protein 2		G	MET/THR,MET/THR	0,4406		0,0,2203	158	139	145		2633,2633	-7.1	0	9	dbSNP_132	145	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CDK5RAP2	NM_001011649.1,NM_018249.4	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	878/1815,878/1894	123215894	1,13005	2203	4300	6503	SO:0001583	missense	55755				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	g.chr9:123215894G>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2633C>T	9.37:g.123215894G>A	ENSP00000343818:p.Thr878Met					CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.T846M|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.T878M|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.T878M	p.T878M	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			21	2812	-			878					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.2633C>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	9.948	1.219244	0.22373	0.0	1.16E-4	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449	T;T;T;T;T	0.17691	3.94;3.86;3.95;3.86;2.26	5.78	-7.07	0.01563	.	2.499820	0.01086	N	0.005095	T	0.08492	0.0211	N	0.08118	0	0.09310	N	1	B;B;B;B	0.25048	0.072;0.117;0.043;0.029	B;B;B;B	0.15870	0.003;0.014;0.003;0.003	T	0.21109	-1.0255	10	0.37606	T	0.19	.	10.6429	0.45602	0.3657:0.0:0.5341:0.1002	.	647;878;878;272	Q6MZT4;Q96SN8-4;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	M	846;878;878;878;272	ENSP00000354065:T846M;ENSP00000352258:T878M;ENSP00000343818:T878M;ENSP00000353317:T878M;ENSP00000400395:T272M	ENSP00000343818:T878M	T	-	2	0	CDK5RAP2	122255715	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.520000	0.06252	-1.220000	0.02594	-0.312000	0.09012	ACG		0.542	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		56	46	0	0	0	1	0	56	46					A	123215894	G	A	123215894	3	1	468	1	0	0	0	0	1	0	0	0	3146	1145	40	1	3120	1	CDK5RAP2	9	123215894	Missense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08		123215894	17997537	33	31629											
C10orf71	118461	broad.mit.edu	37	chr10	50532018	50532018	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacccccaggacagctaaaCggataccaagagaaggagcc	15	3	10	13	1	1	1	1	0	0	1	1	5	1	4	4	3	4	1	4	3	5	2	rs374214345		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr10:50532018C>T	ENST00000374144.3	+	3	1716	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	C10orf71_ENST00000323868.4_Silent_p.N476N			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	476										endometrium(1)	1						GACAGCTAAACGGATACCAAG	0.572																																						ENST00000374144.3																			0				endometrium(1)	1						c.(1426-1428)aaC>aaT		chromosome 10 open reading frame 71		C	,	1,4147		0,1,2073	33	36	35		1428,1428	-11.1	0.1	10		35	1,8431		0,1,4215	no	coding-synonymous,coding-synonymous	C10orf71	NM_001135196.1,NM_199459.3	,	0,2,6288	TT,TC,CC		0.0119,0.0241,0.0159	,	476/1436,476/720	50532018	2,12578	2074	4216	6290	SO:0001819	synonymous_variant	118461							g.chr10:50532018C>T	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1428C>T	10.37:g.50532018C>T						C10orf71_ENST00000323868.4_Silent_p.N476N	p.N476N			Q711Q0	CJ071_HUMAN			3	1716	+			476					A0AVL8	Silent	SNP	ENST00000374144.3	37	c.1428C>T	CCDS44387.1																																																																																				0.572	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		3	26	0	0	0	1	0	3	26					T	50532018	C	T	50532018	2	4	468	1	0	0	0	0	0	0	0	1	1614	535	19	1		1	C10orf71	10	50532018	Silent	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08		50532018	85002729	34	31630											
DNA2	1763	broad.mit.edu	37	chr10	70196776	70196776	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatttcattacctgtctaaTaaacaagttactgttgtcat	13	16	4	8	0	3	0	2	0	1	0	3	0	3	0	1	0	3	2	1	0	6	6			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr10:70196776T>C	ENST00000358410.3	-	10	1688	c.1638A>G	c.(1636-1638)ttA>ttG	p.L546L	DNA2_ENST00000399180.2_Silent_p.L632L|DNA2_ENST00000399179.2_Silent_p.L546L	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	546	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						ACCTGTCTAATAAACAAGTTA	0.333																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(1894-1896)ttA>ttG		DNA replication helicase/nuclease 2							127	122	124					10																	70196776		1852	4098	5950	SO:0001819	synonymous_variant	1763				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	g.chr10:70196776T>C	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.1638A>G	10.37:g.70196776T>C						DNA2_ENST00000358410.3_Silent_p.L546L|DNA2_ENST00000399179.2_Silent_p.L546L	p.L632L			P51530	DNA2L_HUMAN			10	1895	-			546					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	ENST00000358410.3	37	c.1896A>G																																																																																					0.333	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			46	59	0	0	0	1	0	46	59					C	70196776	T	C	70196776	2	2	468	1	0	0	0	0	0	0	0	1	4596	1403	49	4		4	DNA2	10	70196776	Silent	SNP	T	TCGA-YL-A9WH-01A-11D-A377-08	19664758	70196776	65337971	35	31631											
CYP2C19	1557	broad.mit.edu	37	chr10	96540343	96540343	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagaaacgtttcgattataAagatcagcaatttcttaact	15	13	5	8	2	2	2	1	0	1	2	3	3	2	2	1	0	3	2	1	0	6	5			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr10:96540343A>C	ENST00000371321.3	+	4	651	c.569A>C	c.(568-570)aAa>aCa	p.K190T	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	190					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTCGATTATAAAGATCAGCAA	0.418																																						ENST00000371321.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(568-570)aAa>aCa		cytochrome P450, family 2, subfamily C, polypeptide 19	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)						139	136	137					10																	96540343		2203	4300	6503	SO:0001583	missense	1557				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	g.chr10:96540343A>C	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.569A>C	10.37:g.96540343A>C	ENSP00000360372:p.Lys190Thr					CYP2C19_ENST00000464755.1_3'UTR	p.K190T	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	4	651	+		Colorectal(252;0.09)	190					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.569A>C	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.298210	0.23650	.	.	ENSG00000165841	ENST00000371321	T	0.69306	-0.39	4.13	-7.91	0.01165	.	0.684486	0.13282	U	0.399676	T	0.44871	0.1314	L	0.28344	0.845	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.18053	-1.0349	10	0.30078	T	0.28	.	11.3878	0.49796	0.2088:0.705:0.0863:0.0	.	190	P33261	CP2CJ_HUMAN	T	190	ENSP00000360372:K190T	ENSP00000360372:K190T	K	+	2	0	CYP2C19	96530333	0.000000	0.05858	0.001000	0.08648	0.162000	0.22319	0.793000	0.26944	-1.392000	0.02082	0.411000	0.27672	AAA		0.418	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		101	88	0	0	0	1	0	101	88					C	96540343	A	C	96540343	3	2	468	1	0	0	0	0	1	0	0	0	4166	14	1	5	583	5	CYP2C19	10	96540343	Missense_Mutation	SNP	A	TCGA-YL-A9WH-01A-11D-A377-08	26343567	96540343	38994404	36	31632											
CWF19L1	55280	broad.mit.edu	37	chr10	102005616	102005616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctctacctgtggatgaacGcttccttccctgcttttcat	6	16	6	13	1	2	1	1	1	1	0	5	2	4	2	3	1	3	2	3	1	2	5	rs199591943		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr10:102005616G>A	ENST00000354105.4	-	9	990	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C	CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Missense_Mutation_p.R57C	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	302							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GTGGATGAACGCTTCCTTCCC	0.398													G|||	1	0.000199681	8e-04	0	5008	,	,		21239	0		0	False		,,,				2504	0					ENST00000354105.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.(904-906)Cgt>Tgt		CWF19-like 1, cell cycle control (S. pombe)							141	133	136					10																	102005616		2203	4300	6503	SO:0001583	missense	55280						catalytic activity	g.chr10:102005616G>A	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.904C>T	10.37:g.102005616G>A	ENSP00000326411:p.Arg302Cys					CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Missense_Mutation_p.R57C	p.R302C	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	9	990	-		Colorectal(252;0.117)	302					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	c.904C>T	CCDS7489.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.0	4.232390	0.79688	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	T;T	0.26810	2.07;1.71	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.988	T	0.60924	-0.7166	10	0.72032	D	0.01	-11.2439	17.8645	0.88792	0.0:0.0:1.0:0.0	.	165;302	Q69YN2-3;Q69YN2	.;C19L1_HUMAN	C	302;57	ENSP00000326411:R302C;ENSP00000359405:R57C	ENSP00000326411:R302C	R	-	1	0	CWF19L1	101995606	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.951000	0.56684	2.894000	0.99253	0.591000	0.81541	CGT		0.398	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		37	32	0	0	0	1	0	37	32					A	102005616	G	A	102005616	3	1	468	1	0	0	0	0	1	0	0	0	4071	1087	38	1	736	1	CWF19L1	10	102005616	Missense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08	5465273	102005616	33529131	37	31633											
MXI1	4601	broad.mit.edu	37	chr10	112039789	112039789	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggagatggaacgaataCgaatggacagcattggatca	15	7	12	7	2	2	1	2	0	0	1	2	7	2	4	0	4	3	1	0	4	4	2			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr10:112039789C>T	ENST00000239007.7	+	5	687	c.469C>T	c.(469-471)Cga>Tga	p.R157*	MXI1_ENST00000485566.1_3'UTR|MXI1_ENST00000361248.4_Nonsense_Mutation_p.R111*|MXI1_ENST00000393134.1_Nonsense_Mutation_p.R147*|MXI1_ENST00000332674.5_Nonsense_Mutation_p.R224*|MXI1_ENST00000369612.1_Nonsense_Mutation_p.R121*	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein	157					cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)	p.R224*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGAACGAATACGAATGGACAG	0.443																																						ENST00000332674.5																			1	Substitution - Nonsense(1)	p.R224*(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10						c.(670-672)Cga>Tga		MAX interactor 1, dimerization protein							121	111	115					10																	112039789		2203	4300	6503	SO:0001587	stop_gained	4601				cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr10:112039789C>T	BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	7534	protein-coding gene	gene with protein product		600020	"MAX interacting protein 1", "MAX interactor 1"			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.469C>T	10.37:g.112039789C>T	ENSP00000239007:p.Arg157*					MXI1_ENST00000485566.1_3'UTR|MXI1_ENST00000361248.4_Nonsense_Mutation_p.R111*|MXI1_ENST00000239007.7_Nonsense_Mutation_p.R157*|MXI1_ENST00000393134.1_Nonsense_Mutation_p.R147*|MXI1_ENST00000369612.1_Nonsense_Mutation_p.R121*	p.R224*	NM_130439.3	NP_569157.2	P50539	MXI1_HUMAN		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)	5	874	+		Breast(234;0.052)|Lung NSC(174;0.223)	157					B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	Nonsense_Mutation	SNP	ENST00000239007.7	37	c.670C>T	CCDS7564.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480205	0.84747	.	.	ENSG00000119950	ENST00000332674;ENST00000453116;ENST00000361248;ENST00000239007;ENST00000369619;ENST00000393134;ENST00000369614;ENST00000369613;ENST00000369612	.	.	.	5.6	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3439	14.5813	0.68292	0.0:0.9298:0.0:0.0702	.	.	.	.	X	224;214;111;157;147;147;121;121;121	.	ENSP00000239007:R157X	R	+	1	2	MXI1	112029779	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.001000	0.70685	1.510000	0.48803	0.650000	0.86243	CGA		0.443	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050316.1	NM_130439		11	19	0	0	0	1	0	11	19					T	112039789	C	T	112039789	4	4	468	1	0	0	0	0	0	1	0	0	10002	528	19	1	765	1	MXI1	10	112039789	Nonsense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	10034173	112039789	23494958	38	31634											
SOX6	55553	broad.mit.edu	37	chr11	16117662	16117662	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggtgggagacatgaccCttctgtttagtagcatattc	8	14	12	7	0	1	2	0	1	1	1	2	3	1	2	1	2	1	3	1	2	3	6			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:16117662C>T	ENST00000352083.6	-	9	1058	c.981G>A	c.(979-981)aaG>aaA	p.K327K	SOX6_ENST00000527619.1_Intron|SOX6_ENST00000316399.6_Silent_p.K327K|SOX6_ENST00000528252.1_Intron|SOX6_ENST00000396356.3_Silent_p.K327K|SOX6_ENST00000528429.1_Silent_p.K327K			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	327					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AGACATGACCCTTCTGTTTAG	0.398																																						ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(979-981)aaG>aaA		SRY (sex determining region Y)-box 6							131	126	128					11																	16117662		2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16117662C>T	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.981G>A	11.37:g.16117662C>T						SOX6_ENST00000396356.3_Silent_p.K327K|SOX6_ENST00000528429.1_Silent_p.K327K|SOX6_ENST00000528252.1_Intron|SOX6_ENST00000527619.1_Intron|SOX6_ENST00000316399.6_Silent_p.K327K	p.K327K			P35712	SOX6_HUMAN			9	1058	-			327					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.981G>A																																																																																					0.398	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		26	41	0	0	0	1	0	26	41					T	16117662	C	T	16117662	2	4	468	1	0	0	0	0	0	0	0	1	14955	680	24	3		3	SOX6	11	16117662	Silent	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08		16117662	118888854	39	31635											
DBX1	120237	broad.mit.edu	37	chr11	20178066	20178066	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgctagacaggagttcGcgctccttggagttccgcca	6	8	11	16	4	0	1	0	0	0	1	3	3	2	3	5	2	0	4	5	2	1	4			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:20178066G>A	ENST00000524983.2	-	4	1014	c.726C>T	c.(724-726)cgC>cgT	p.R242R	DBX1_ENST00000227256.3_Silent_p.R281R			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	242					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						ACAGGAGTTCGCGCTCCTTGG	0.622																																						ENST00000524983.2																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						c.(724-726)cgC>cgT		developing brain homeobox 1							31	34	33					11																	20178066		2203	4300	6503	SO:0001819	synonymous_variant	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20178066G>A			11p15.1	2011-06-20				ENSG00000109851		"Homeoboxes / ANTP class : NKL subclass"	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.726C>T	11.37:g.20178066G>A						DBX1_ENST00000227256.3_Silent_p.R281R	p.R242R			A6NMT0	DBX1_HUMAN			4	1014	-			242						Silent	SNP	ENST00000524983.2	37	c.726C>T																																																																																					0.622	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865		13	33	0	0	0	1	0	13	33					A	20178066	G	A	20178066	2	1	468	1	0	0	0	0	0	0	0	1	4259	1074	38	1		1	DBX1	11	20178066	Silent	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08	4060404	20178066	114828450	40	31636											
AHNAK	79026	broad.mit.edu	37	chr11	62293657	62293657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgtccacttttgggccCttgatgtcaacttctgggcc	6	14	9	12	0	3	1	2	1	1	0	4	1	4	1	3	2	1	0	3	2	2	4			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:62293657C>A	ENST00000378024.4	-	5	8506	c.8232G>T	c.(8230-8232)aaG>aaT	p.K2744N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2744					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTTGGGCCCTTGATGTCAA	0.478																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(8230-8232)aaG>aaT		AHNAK nucleoprotein							180	178	179					11																	62293657		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62293657C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8232G>T	11.37:g.62293657C>A	ENSP00000367263:p.Lys2744Asn					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.K2744N	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	8506	-		Melanoma(852;0.155)	2744					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.8232G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	11.73	1.726400	0.30593	.	.	ENSG00000124942	ENST00000378024	T	0.05319	3.46	4.31	-0.189	0.13260	.	.	.	.	.	T	0.13670	0.0331	M	0.93594	3.435	0.24869	N	0.992293	B	0.31459	0.324	B	0.34722	0.188	T	0.16571	-1.0398	9	0.33940	T	0.23	.	5.234	0.15437	0.1335:0.3749:0.0:0.4916	.	2744	Q09666	AHNK_HUMAN	N	2744	ENSP00000367263:K2744N	ENSP00000367263:K2744N	K	-	3	2	AHNAK	62050233	0.935000	0.31712	0.055000	0.19348	0.529000	0.34654	0.525000	0.22956	-0.381000	0.07882	0.298000	0.19748	AAG		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		4	272	1	0	0.00024832	1	0.000256785	4	272					A	62293657	C	A	62293657	3	1	468	1	0	0	0	0	1	0	0	0	414	680	24	5	9560	5	AHNAK	11	62293657	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	42115591	62293657	72712859	41	31637											
FAT3	120114	broad.mit.edu	37	chr11	92592421	92592421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttcaaactagctctgcGtcttcgaacactgcaaagca	12	10	8	11	2	3	0	1	0	2	0	4	2	3	1	0	1	6	3	0	1	4	3	rs372126226		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:92592421G>A	ENST00000298047.6	+	20	11608	c.11591G>A	c.(11590-11592)cGt>cAt	p.R3864H	FAT3_ENST00000409404.2_Missense_Mutation_p.R3864H|FAT3_ENST00000533797.1_Missense_Mutation_p.R199H|FAT3_ENST00000525166.1_Missense_Mutation_p.R3714H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3864	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)				CTAGCTCTGCGTCTTCGAACA	0.393										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				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						c.(11590-11592)cGt>cAt		FAT atypical cadherin 3		G	HIS/ARG	0,3700		0,0,1850	88	84	85		11591	5.2	1	11		85	2,8190		0,2,4094	no	missense	FAT3	NM_001008781.2	29	0,2,5944	AA,AG,GG		0.0244,0.0,0.0168	probably-damaging	3864/4558	92592421	2,11890	1850	4096	5946	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92592421G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11591G>A	11.37:g.92592421G>A	ENSP00000298047:p.Arg3864His	TCGA Ovarian(4;0.039)				FAT3_ENST00000533797.1_Missense_Mutation_p.R199H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3864H|FAT3_ENST00000525166.1_Missense_Mutation_p.R3714H	p.R3864H			Q8TDW7	FAT3_HUMAN			20	11608	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3864			Laminin G-like.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.11591G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.091737	0.94149	0.0	2.44E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.15	5.15	0.70609	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	D	0.82692	0.5092	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.959	D;B	0.91635	0.999;0.348	D	0.83779	0.0224	9	0.54805	T	0.06	.	18.9877	0.92779	0.0:0.0:1.0:0.0	.	3864;3864	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	H	3864;3864;3714;199	ENSP00000298047:R3864H;ENSP00000387040:R3864H;ENSP00000432586:R3714H;ENSP00000436399:R199H	ENSP00000298047:R3864H	R	+	2	0	FAT3	92232069	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.338000	0.96553	2.580000	0.87095	0.655000	0.94253	CGT		0.393	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		16	15	0	0	0	1	0	16	15					A	92592421	G	A	92592421	3	1	468	1	0	0	0	0	1	0	0	0	5691	1145	40	1	11669	1	FAT3	11	92592421	Missense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08	30298764	92592421	42414095	42	31638											
HSPA8	3312	broad.mit.edu	37	chr11	122930210	122930210	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcaacagcttcatcagggTtgatgctcttattcagttct	10	14	8	9	0	5	1	3	1	2	0	5	1	5	1	0	1	4	5	0	1	3	5			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:122930210T>C	ENST00000532636.1	-	5	1210	c.1091A>G	c.(1090-1092)aAc>aGc	p.N364S	HSPA8_ENST00000534624.1_Missense_Mutation_p.N364S|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000533540.1_Missense_Mutation_p.N218S|HSPA8_ENST00000453788.2_Missense_Mutation_p.N364S|HSPA8_ENST00000526110.1_Missense_Mutation_p.N345S|HSPA8_ENST00000534319.1_Missense_Mutation_p.N128S|SNORD14E_ENST00000364009.1_RNA|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000227378.3_Missense_Mutation_p.N364S			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	364	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTCATCAGGGTTGATGCTCTT	0.438																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1090-1092)aAc>aGc		heat shock 70kDa protein 8							123	116	118					11																	122930210		2202	4299	6501	SO:0001583	missense	3312				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	g.chr11:122930210T>C	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1091A>G	11.37:g.122930210T>C	ENSP00000437125:p.Asn364Ser					HSPA8_ENST00000227378.3_Missense_Mutation_p.N364S|HSPA8_ENST00000526110.1_Missense_Mutation_p.N345S|HSPA8_ENST00000534319.1_Missense_Mutation_p.N128S|HSPA8_ENST00000533540.1_Missense_Mutation_p.N218S|HSPA8_ENST00000532636.1_Missense_Mutation_p.N364S|HSPA8_ENST00000453788.2_Missense_Mutation_p.N364S|HSPA8_ENST00000526862.1_5'UTR	p.N364S	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	5	1367	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	364			Interaction with BAG1.		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1091A>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.548640	0.86127	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	T;T;T;T;T;T;T;T	0.01397	4.94;4.94;4.94;4.94;4.94;4.94;4.94;4.94	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.15912	0.0383	H	0.99273	4.495	0.80722	D	1	D;D;P;D	0.57257	0.979;0.961;0.952;0.979	P;P;P;P	0.60236	0.735;0.871;0.796;0.735	T	0.35001	-0.9806	10	0.87932	D	0	-29.5464	14.6962	0.69124	0.0:0.0:0.0:1.0	.	364;364;364;364	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	S	364;218;364;364;364;128;345;304	ENSP00000437125:N364S;ENSP00000437189:N218S;ENSP00000432083:N364S;ENSP00000404372:N364S;ENSP00000227378:N364S;ENSP00000433316:N128S;ENSP00000433584:N345S;ENSP00000432884:N304S	ENSP00000227378:N364S	N	-	2	0	HSPA8	122435420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.811000	0.86092	1.932000	0.55993	0.454000	0.30748	AAC		0.438	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			13	112	0	0	0	1	0	13	112					C	122930210	T	C	122930210	3	2	468	1	0	0	0	0	1	0	0	0	7416	1725	60	4	869	4	HSPA8	11	122930210	Missense_Mutation	SNP	T	TCGA-YL-A9WH-01A-11D-A377-08	30337789	122930210	12076306	43	31639											
OR10G8	219869	broad.mit.edu	37	chr11	123900428	123900428	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagtcttcctggtggtttaCgtgctcactgtgctggggaa	5	13	15	8	1	2	0	1	0	1	0	3	2	3	2	1	5	3	3	1	5	2	3	rs565874834		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:123900428C>T	ENST00000431524.1	+	1	132	c.99C>T	c.(97-99)taC>taT	p.Y33Y		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGGTGGTTTACGTGCTCACTG	0.572																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(97-99)taC>taT		olfactory receptor, family 10, subfamily G, member 8							203	179	187					11																	123900428		2201	4299	6500	SO:0001819	synonymous_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900428C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.99C>T	11.37:g.123900428C>T							p.Y33Y	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	132	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	33					B2RNJ3|Q6IEV2	Silent	SNP	ENST00000431524.1	37	c.99C>T	CCDS31704.1																																																																																				0.572	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		5	188	0	0	0	1	0	5	188					T	123900428	C	T	123900428	2	4	468	1	0	0	0	0	0	0	0	1	10903	547	19	1		1	OR10G8	11	123900428	Silent	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	970218	123900428	11106088	44	31640											
BICD1	636	broad.mit.edu	37	chr12	32481322	32481322	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgcagaaagctgtggacCggtccttgcaactgtctcgt	8	11	11	11	2	2	1	0	0	2	1	4	2	3	2	2	2	4	3	2	2	2	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr12:32481322C>A	ENST00000281474.5	+	5	2036	c.1933C>A	c.(1933-1935)Cgg>Agg	p.R645R	BICD1_ENST00000548411.1_Silent_p.R645R	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	645					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			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)			AGCTGTGGACCGGTCCTTGCA	0.468																																						ENST00000548411.1																			0				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						c.(1933-1935)Cgg>Agg		bicaudal D homolog 1 (Drosophila)							110	113	112					12																	32481322		2203	4300	6503	SO:0001819	synonymous_variant	636				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	g.chr12:32481322C>A	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1933C>A	12.37:g.32481322C>A						BICD1_ENST00000281474.5_Silent_p.R645R	p.R645R	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	2114	+	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)		645					A8K2C3|F8W113|O43892|O43893	Silent	SNP	ENST00000281474.5	37	c.1933C>A	CCDS8726.1																																																																																				0.468	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		40	50	1	0	1.07121e-22	1	1.2185e-22	40	50					A	32481322	C	A	32481322	2	1	468	1	0	0	0	0	0	0	0	1	1428	643	23	5		5	BICD1	12	32481322	Silent	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08		32481322	101370573	45	31641											
DDX23	9416	broad.mit.edu	37	chr12	49225958	49225958	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttgctccaagattgccAgcagctttttcctggaagga	9	11	10	11	0	0	1	0	0	0	1	2	3	2	3	4	2	5	3	4	2	2	4			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr12:49225958A>G	ENST00000308025.3	-	15	2046	c.1967T>C	c.(1966-1968)cTg>cCg	p.L656P		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	656	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CAAGATTGCCAGCAGCTTTTT	0.483																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(1966-1968)cTg>cCg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							77	78	78					12																	49225958		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49225958A>G	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1967T>C	12.37:g.49225958A>G	ENSP00000310723:p.Leu656Pro						p.L656P	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			15	2046	-			656			Helicase C-terminal.		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.1967T>C	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.703720	0.88924	.	.	ENSG00000174243	ENST00000308025	T	0.05996	3.36	6.17	6.17	0.99709	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.19087	0.0458	M	0.71920	2.185	0.80722	D	1	D	0.59357	0.985	P	0.55667	0.781	T	0.00364	-1.1787	10	0.36615	T	0.2	-11.8179	15.8048	0.78491	1.0:0.0:0.0:0.0	.	656	Q9BUQ8	DDX23_HUMAN	P	656	ENSP00000310723:L656P	ENSP00000310723:L656P	L	-	2	0	DDX23	47512225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.915000	0.92740	2.371000	0.80710	0.533000	0.62120	CTG		0.483	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		24	52	0	0	0	1	0	24	52					G	49225958	A	G	49225958	3	3	468	1	0	0	0	0	1	0	0	0	4350	188	7	4	507	4	DDX23	12	49225958	Missense_Mutation	SNP	A	TCGA-YL-A9WH-01A-11D-A377-08	16744636	49225958	84625937	46	31642											
NALCN	259232	broad.mit.edu	37	chr13	101944628	101944628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaatagaagtaggaacGccaacggggaaagctgtcaa	17	5	13	6	2	1	2	1	1	0	1	1	5	1	4	1	3	3	2	1	3	8	2			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr13:101944628G>A	ENST00000251127.6	-	8	970	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	NALCN_ENST00000376196.3_Missense_Mutation_p.R297C|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	297					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R297C(1)		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)					AAGTAGGAACGCCAACGGGGA	0.458																																						ENST00000251127.6																			1	Substitution - Missense(1)	p.R297C(1)	endometrium(1)	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						c.(889-891)Cgt>Tgt		sodium leak channel, non-selective							86	69	75					13																	101944628		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101944628G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.889C>T	13.37:g.101944628G>A	ENSP00000251127:p.Arg297Cys					NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R297C	p.R297C	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			8	970	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		297					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.889C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062118	0.93846	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98437	-4.93;-4.93	6.16	6.16	0.99307	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98890	0.9624	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.971;0.998;0.978	D	0.98648	1.0678	10	0.39692	T	0.17	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	297;297;297	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	C	297	ENSP00000251127:R297C;ENSP00000365367:R297C	ENSP00000251127:R297C	R	-	1	0	NALCN	100742629	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.648000	0.83479	2.937000	0.99478	0.650000	0.86243	CGT		0.458	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		9	30	0	0	0	1	0	9	30					A	101944628	G	A	101944628	3	1	468	1	0	0	0	0	1	0	0	0	10148	1087	38	1	4475	1	NALCN	13	101944628	Missense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08		101944628	13225250	47	31643											
TTC7B	145567	broad.mit.edu	37	chr14	91059906	91059906	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcactgctctgcagagaCgaagccacttccgacagtgc	9	6	13	13	2	1	1	0	0	1	1	2	4	2	1	2	2	4	3	2	2	1	1	rs200803822		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr14:91059906C>T	ENST00000328459.6	-	18	2152	c.2031G>A	c.(2029-2031)tcG>tcA	p.S677S	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_Silent_p.S694S	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	677										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TCTGCAGAGACGAAGCCACTT	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		16422	0		0	False		,,,				2504	0					ENST00000357056.2																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36						c.(2080-2082)tcG>tcA		tetratricopeptide repeat domain 7B		C		2,4404	4.2+/-10.8	0,2,2201	80	67	72		2031	-11	0.6	14		72	0,8600		0,0,4300	no	coding-synonymous	TTC7B	NM_001010854.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		677/844	91059906	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	145567						binding	g.chr14:91059906C>T	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2031G>A	14.37:g.91059906C>T						TTC7B_ENST00000328459.6_Silent_p.S677S|TTC7B_ENST00000554654.1_5'UTR	p.S694S			Q86TV6	TTC7B_HUMAN			19	2203	-		Melanoma(154;0.222)	677					Q86U24|Q86VT3	Silent	SNP	ENST00000328459.6	37	c.2082G>A	CCDS32140.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.560	1.118339	0.20877	4.54E-4	0.0	ENSG00000165914	ENST00000557292	.	.	.	5.6	-11.0	0.00169	.	.	.	.	.	T	0.32704	0.0838	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42464	-0.9450	4	.	.	.	-8.3837	3.0103	0.06042	0.3295:0.0911:0.1158:0.4636	.	.	.	.	I	105	.	.	V	-	1	0	TTC7B	90129659	0.000000	0.05858	0.643000	0.29450	0.881000	0.50899	-5.489000	0.00118	-1.596000	0.01611	-0.188000	0.12872	GTC		0.607	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			3	60	0	0	0	1	0	3	60					T	91059906	C	T	91059906	2	4	468	1	0	0	0	0	0	0	0	1	16710	523	19	1		1	TTC7B	14	91059906	Silent	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08		91059906	16289634	48	31644											
C15orf2	23742	broad.mit.edu	37	chr15	24924310	24924310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacctacccagaattcatGcagtggtatgggaggggatg	10	8	13	10	0	1	1	1	0	0	1	1	3	1	3	3	4	2	2	3	4	3	3			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr15:24924310G>T	ENST00000329468.2	+	1	3770	c.3296G>T	c.(3295-3297)tGc>tTc	p.C1099F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1099					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CAGAATTCATGCAGTGGTATG	0.507																																						ENST00000329468.2																			0											c.(3295-3297)tGc>tTc		nuclear pore associated protein 1							140	125	130					15																	24924310		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24924310G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3296G>T	15.37:g.24924310G>T	ENSP00000333735:p.Cys1099Phe						p.C1099F	NM_018958.2	NP_061831.2					1	3770	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.3296G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	3.550	-0.091926	0.07053	.	.	ENSG00000185823	ENST00000329468	T	0.05855	3.38	1.68	-0.351	0.12602	.	.	.	.	.	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.42430	-0.9452	9	0.59425	D	0.04	.	3.948	0.09356	0.4404:0.0:0.5596:0.0	.	1099	Q9NZP6	CO002_HUMAN	F	1099	ENSP00000333735:C1099F	ENSP00000333735:C1099F	C	+	2	0	C15orf2	22475403	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.041000	0.13927	-0.099000	0.12263	0.313000	0.20887	TGC		0.507	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		69	101	1	0	1.62403e-39	1	1.89471e-39	69	101					T	24924310	G	T	24924310	3	4	468	1	0	0	0	0	1	0	0	0	1784	1319	46	5	3298	5	C15orf2	15	24924310	Missense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08		24924310	77607082	49	31645											
ISL2	64843	broad.mit.edu	37	chr15	76632802	76632802	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaccggcctgagcccgCgggtcatccgcgtctggttc	5	8	14	14	5	2	3	1	2	1	1	4	3	3	3	4	3	1	1	4	3	0	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr15:76632802C>A	ENST00000290759.4	+	4	857	c.697C>A	c.(697-699)Cgg>Agg	p.R233R	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	233					negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						CCTGAGCCCGCGGGTCATCCG	0.617																																					GBM(97;953 1391 16164 31496 36951)	ENST00000290759.4																			0				breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(697-699)Cgg>Agg		ISL LIM homeobox 2							34	39	37					15																	76632802		2196	4292	6488	SO:0001819	synonymous_variant	64843					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:76632802C>A	AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"Homeoboxes / LIM class"	18524	protein-coding gene	gene with protein product		609481	"ISL2 transcription factor, LIM/homeodomain, (islet-2)"				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.697C>A	15.37:g.76632802C>A						RP11-685G9.2_ENST00000559539.1_RNA	p.R233R	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN			4	857	+			233					B3KM37	Silent	SNP	ENST00000290759.4	37	c.697C>A	CCDS10290.1																																																																																				0.617	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1			9	24	1	0	0.000673444	1	0.000688578	9	24					A	76632802	C	A	76632802	2	1	468	1	0	0	0	0	0	0	0	1	7857	759	27	5		5	ISL2	15	76632802	Silent	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	51708492	76632802	25898590	50	31646											
GRIN2A	2903	broad.mit.edu	37	chr16	10031896	10031896	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcggggatgtaggagaaCttctccagcatagaagatgc	11	8	13	9	1	1	3	0	0	1	3	3	5	1	4	2	3	3	2	2	3	4	3			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr16:10031896C>G	ENST00000396573.2	-	4	1236	c.927G>C	c.(925-927)aaG>aaC	p.K309N	GRIN2A_ENST00000330684.3_Missense_Mutation_p.K309N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000566670.1_5'Flank|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K309N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K152N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	309					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGTAGGAGAACTTCTCCAGCA	0.572																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(925-927)aaG>aaC		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						79	65	69					16																	10031896		2197	4300	6497	SO:0001583	missense	0				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	g.chr16:10031896C>G		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.927G>C	16.37:g.10031896C>G	ENSP00000379818:p.Lys309Asn					GRIN2A_ENST00000562109.1_Missense_Mutation_p.K309N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K152N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K309N	p.K309N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			4	1236	-			309					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.927G>C	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	c	14.85	2.658787	0.47467	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	5.2	0.767	0.18482	.	0.317437	0.37577	N	0.002032	T	0.09024	0.0223	L	0.51422	1.61	0.34732	D	0.729857	B;B;B	0.30146	0.082;0.27;0.005	B;B;B	0.38755	0.085;0.281;0.013	T	0.22695	-1.0209	9	.	.	.	.	5.679	0.17765	0.0:0.5177:0.2633:0.2189	.	152;309;309	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	309;309;152;309;309	ENSP00000379818:K309N;ENSP00000385872:K309N;ENSP00000441572:K152N;ENSP00000332549:K309N;ENSP00000379820:K309N	.	K	-	3	2	GRIN2A	9939397	0.650000	0.27331	0.249000	0.24280	0.954000	0.61252	-0.110000	0.10824	-0.006000	0.14370	0.561000	0.74099	AAG		0.572	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			6	37	0	0	0	1	0	6	37					G	10031896	C	G	10031896	3	3	468	1	0	0	0	0	1	0	0	0	6779	564	20	5	3511	5	GRIN2A	16	10031896	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08		10031896	80322857	51	31647											
GPR139	124274	broad.mit.edu	37	chr16	20043950	20043950	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaggaggacttctgtcttcTtgccaccagctgggagagga	8	10	14	9	0	3	1	0	0	3	1	3	5	3	4	2	4	2	2	2	4	1	4			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr16:20043950T>C	ENST00000570682.1	-	2	469	c.169A>G	c.(169-171)Aga>Gga	p.R57G		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	57					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TTCTGTCTTCTTGCCACCAGC	0.458																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(169-171)Aga>Gga		G protein-coupled receptor 139							61	62	61					16																	20043950		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043950T>C	AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.169A>G	16.37:g.20043950T>C	ENSP00000458791:p.Arg57Gly						p.R57G	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	469	-			57					A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.169A>G	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.080338	0.55753	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.3	-2.89	0.05665	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74084	0.3670	M	0.64170	1.965	0.46458	D	0.999051	D	0.89917	1.0	D	0.97110	1.0	T	0.77191	-0.2678	9	0.56958	D	0.05	-21.6187	18.5887	0.91200	0.0:0.0:0.7885:0.2115	.	57	Q6DWJ6	GP139_HUMAN	G	57	.	ENSP00000370779:R57G	R	-	1	2	GPR139	19951451	1.000000	0.71417	0.188000	0.23233	0.928000	0.56348	3.278000	0.51662	-0.210000	0.10140	0.460000	0.39030	AGA		0.458	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		13	21	0	0	0	1	0	13	21					C	20043950	T	C	20043950	3	2	468	1	0	0	0	0	1	0	0	0	6648	1617	56	4	896	4	GPR139	16	20043950	Missense_Mutation	SNP	T	TCGA-YL-A9WH-01A-11D-A377-08	10012054	20043950	70310803	52	31648											
ZFHX3	463	broad.mit.edu	37	chr16	72828630	72828630	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagagaatttctagttgttCcggtgtgatggttgttctca	7	17	12	5	1	2	2	1	1	2	1	4	3	3	2	1	2	0	5	1	2	3	7			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr16:72828630C>A	ENST00000268489.5	-	9	8623	c.7951G>T	c.(7951-7953)Gaa>Taa	p.E2651*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E1737*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2651					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E2651Q(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCTAGTTGTTCCGGTGTGATG	0.498																																						ENST00000268489.5																			1	Substitution - Missense(1)	p.E2651Q(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(7951-7953)Gaa>Taa		zinc finger homeobox 3							260	278	272					16																	72828630		2198	4300	6498	SO:0001587	stop_gained	463				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	g.chr16:72828630C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7951G>T	16.37:g.72828630C>A	ENSP00000268489:p.Glu2651*					ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E1737*	p.E2651*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	8623	-		Ovarian(137;0.13)	2651					D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	c.7951G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	51	17.806742	0.99893	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.64	5.64	0.86602	.	0.000000	0.50627	D	0.000101	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.683	0.95971	0.0:1.0:0.0:0.0	.	.	.	.	X	2651;1737	.	ENSP00000268489:E2651X	E	-	1	0	ZFHX3	71386131	1.000000	0.71417	0.934000	0.37439	0.724000	0.41520	7.818000	0.86416	2.653000	0.90120	0.561000	0.74099	GAA		0.498	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		10	318	1	0	2.17888e-05	1	2.30556e-05	10	318					A	72828630	C	A	72828630	4	1	468	1	0	0	0	0	0	1	0	0	17631	864	30	5	3168	5	ZFHX3	16	72828630	Nonsense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	52784680	72828630	17526123	53	31649											
DEF8	54849	broad.mit.edu	37	chr16	90028534	90028534	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctggtggagattcgcGtgaggctggggccatggaag	8	7	20	6	2	0	2	0	1	0	1	1	5	0	4	1	7	1	2	1	7	1	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr16:90028534G>A	ENST00000268676.7	+	9	1193		c.e9+1		DEF8_ENST00000567874.1_Splice_Site|DEF8_ENST00000569453.1_Splice_Site|DEF8_ENST00000563594.1_Splice_Site|DEF8_ENST00000570182.1_Splice_Site|DEF8_ENST00000563795.1_Splice_Site	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)						intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GGAGATTCGCGTGAGGCTGGG	0.667																																						ENST00000563594.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.e9+1		differentially expressed in FDCP 8 homolog (mouse)							31	25	27					16																	90028534		2198	4300	6498	SO:0001630	splice_region_variant	54849				intracellular signal transduction		zinc ion binding	g.chr16:90028534G>A	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.1104+1G>A	16.37:g.90028534G>A						DEF8_ENST00000563795.1_Splice_Site|DEF8_ENST00000570182.1_Splice_Site|DEF8_ENST00000567874.1_Splice_Site|DEF8_ENST00000268676.7_Splice_Site|DEF8_ENST00000569453.1_Splice_Site		NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	9	1918	+		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)						B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Splice_Site	SNP	ENST00000268676.7	37		CCDS10989.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.003013	0.35320	.	.	ENSG00000140995	ENST00000268676	.	.	.	3.74	3.74	0.42951	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0791	0.80989	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DEF8	88556035	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	8.785000	0.91822	2.086000	0.62901	0.491000	0.48974	.		0.667	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514	Intron	4	23	0	0	0	1	0	4	23					A	90028534	G	A	90028534	5	1	468	1	0	0	0	0	0	0	1	0	4387	1159	40	1	1215	1	DEF8	16	90028534	Splice_Site	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08	17199904	90028534	326219	54	31650											
OR3A1	4994	broad.mit.edu	37	chr17	3195619	3195619	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttgcgggacaggagacgActcaacattgatggaacagt	12	7	13	9	3	1	2	1	1	0	1	1	6	1	4	0	3	3	1	0	3	2	2			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:3195619A>G	ENST00000323404.1	-	1	257	c.258T>C	c.(256-258)agT>agC	p.S86S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	86					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						ACAGGAGACGACTCAACATTG	0.562																																					GBM(20;287 516 18743 28660 36594)	ENST00000323404.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(256-258)agT>agC		olfactory receptor, family 3, subfamily A, member 1							99	78	85					17																	3195619		2203	4300	6503	SO:0001819	synonymous_variant	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195619A>G	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"GPCR / Class A : Olfactory receptors"	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.258T>C	17.37:g.3195619A>G						RP11-64J4.2_ENST00000573491.1_RNA	p.S86S	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN			1	257	-			86					Q4VB06|Q6IFM4	Silent	SNP	ENST00000323404.1	37	c.258T>C	CCDS11023.1																																																																																				0.562	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			15	8	0	0	0	1	0	15	8					G	3195619	A	G	3195619	2	3	468	1	0	0	0	0	0	0	0	1	11037	272	10	4		4	OR3A1	17	3195619	Silent	SNP	A	TCGA-YL-A9WH-01A-11D-A377-08		3195619	77999591	55	31651											
MYBBP1A	10514	broad.mit.edu	37	chr17	4457112	4457112	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagctcatacctcggagAggatgtccaccagggccttc	8	7	14	12	1	1	1	1	0	0	1	4	4	2	3	4	5	2	1	4	5	1	2			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:4457112A>T	ENST00000254718.4	-	5	860	c.554T>A	c.(553-555)cTc>cAc	p.L185H	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.L185H			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	185	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TACCTCGGAGAGGATGTCCAC	0.592																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(553-555)cTc>cAc		MYB binding protein (P160) 1a							46	48	47					17																	4457112		2203	4300	6503	SO:0001583	missense	10514				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	g.chr17:4457112A>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.554T>A	17.37:g.4457112A>T	ENSP00000254718:p.Leu185His					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.L185H	p.L185H			Q9BQG0	MBB1A_HUMAN			5	860	-			185			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.554T>A	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.679928	0.68042	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.66099	-0.19;-0.19	5.78	5.78	0.91487	Armadillo-type fold (1);	0.066937	0.64402	D	0.000006	T	0.76681	0.4021	M	0.64997	1.995	0.53005	D	0.999969	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.991	T	0.78502	-0.2179	10	0.66056	D	0.02	-23.9368	15.2208	0.73310	1.0:0.0:0.0:0.0	.	185;185	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	H	185	ENSP00000370968:L185H;ENSP00000254718:L185H	ENSP00000254718:L185H	L	-	2	0	MYBBP1A	4403861	1.000000	0.71417	0.936000	0.37596	0.066000	0.16364	6.314000	0.72848	2.333000	0.79357	0.533000	0.62120	CTC		0.592	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		28	8	0	0	0	1	0	28	8					T	4457112	A	T	4457112	3	4	468	1	0	0	0	0	1	0	0	0	10008	304	11	5	3560	5	MYBBP1A	17	4457112	Missense_Mutation	SNP	A	TCGA-YL-A9WH-01A-11D-A377-08	1261493	4457112	76738098	56	31652											
TP53	7157	broad.mit.edu	37	chr17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgcaggaactgttacaCatgtagttgtagtggatggt	10	12	12	7	0	0	0	0	0	0	0	0	2	0	2	1	3	3	5	1	3	4	4	rs587782664		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:7577570C>T	ENST00000269305.4	-	7	900	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (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).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	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	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)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		139	Substitution - Missense(113)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(1)	upper_aerodigestive_tract(23)|ovary(22)|lung(18)|breast(18)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(9)|large_intestine(9)|stomach(6)|biliary_tract(5)|bone(5)|oesophagus(4)|urinary_tract(3)|pancreas(2)|thyroid(1)|testis(1)|soft_tissue(1)|liver(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	GRCh37	CM011014	TP53	M		c.(709-711)atG>atA	Other conserved DNA damage response genes	tumor protein p53							130	102	112					17																	7577570		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577570C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.711G>A	17.37:g.7577570C>T	ENSP00000269305:p.Met237Ile	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)				TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000269305.4_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	p.M237I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	843	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	237		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (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).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.711G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343240	0.82022	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.09	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	M	0.86953	2.85	0.54753	D	0.999983	D;D;D;D;D;D	0.89917	1.0;0.975;0.999;1.0;0.998;1.0	D;P;D;D;D;D	0.91635	0.999;0.864;0.999;0.999;0.999;0.998	D	0.97922	1.0315	10	0.72032	D	0.01	-32.6033	10.0519	0.42221	0.0:0.8993:0.0:0.1007	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237I;ENSP00000352610:M237I;ENSP00000269305:M237I;ENSP00000398846:M237I;ENSP00000391127:M237I;ENSP00000391478:M237I;ENSP00000425104:M105I;ENSP00000423862:M144I	ENSP00000269305:M237I	M	-	3	0	TP53	7518295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	1.305000	0.44909	0.462000	0.41574	ATG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	9	0	0	0	1	0	27	9					T	7577570	C	T	7577570	3	4	468	1	0	0	0	0	1	0	0	0	16378	478	17	3	579	3	TP53	17	7577570	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	3120458	7577570	73617640	57	31653											
MYO19	80179	broad.mit.edu	37	chr17	34854317	34854317	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcctggtctgcagcggCgaggtgctcagggaacaggg	8	5	19	9	2	2	0	1	0	1	0	2	3	2	2	1	6	5	2	1	6	1	0			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:34854317C>T	ENST00000431794.3	-	25	3072	c.2550G>A	c.(2548-2550)tcG>tcA	p.S850S	ZNHIT3_ENST00000588253.1_3'UTR|MYO19_ENST00000268852.9_Silent_p.S650S	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	850	Mitochondrial targeting.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCTGCAGCGGCGAGGTGCTCA	0.537																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(2548-2550)tcG>tcA		myosin XIX							72	70	71					17																	34854317		1935	4142	6077	SO:0001819	synonymous_variant	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34854317C>T	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2550G>A	17.37:g.34854317C>T						ZNHIT3_ENST00000588253.1_3'UTR|MYO19_ENST00000268852.9_Silent_p.S650S	p.S850S	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	25	3072	-		Breast(25;0.00957)|Ovarian(249;0.17)	850			Mitochondrial targeting.		Q59GS4|Q9H5X2	Silent	SNP	ENST00000431794.3	37	c.2550G>A	CCDS54112.1																																																																																				0.537	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		33	32	0	0	0	1	0	33	32					T	34854317	C	T	34854317	2	4	468	1	0	0	0	0	0	0	0	1	10067	755	27	1		1	MYO19	17	34854317	Silent	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	27276747	34854317	46340893	58	31654											
BRIP1	83990	broad.mit.edu	37	chr17	59760933	59760933	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaatctgaattgttagcCaatctatttcctctatcagt	11	16	5	9	0	4	1	1	1	3	0	5	1	5	1	2	0	2	2	2	0	6	5			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:59760933C>A	ENST00000259008.2	-	20	3741	c.3474G>T	c.(3472-3474)ttG>ttT	p.L1158F		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1158					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						AATTGTTAGCCAATCTATTTC	0.333			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	"F, N, Mis"	BRCA1 interacting protein C-terminal helicase 1			"L, E"		"AML, leukemia, breast"			0				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						c.(3472-3474)ttG>ttT	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							75	74	75					17																	59760933		2203	4299	6502	SO:0001583	missense	83990				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	g.chr17:59760933C>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3474G>T	17.37:g.59760933C>A	ENSP00000259008:p.Leu1158Phe						p.L1158F	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			20	3741	-			1158					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.3474G>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	2.407	-0.336166	0.05278	.	.	ENSG00000136492	ENST00000259008	T	0.75589	-0.95	5.39	-0.498	0.12019	.	2.966490	0.00678	N	0.000669	T	0.57946	0.2088	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.31475	-0.9942	9	.	.	.	-0.2137	2.3486	0.04278	0.1195:0.485:0.1575:0.238	.	1158	Q9BX63	FANCJ_HUMAN	F	1158	ENSP00000259008:L1158F	.	L	-	3	2	BRIP1	57115715	0.001000	0.12720	0.006000	0.13384	0.063000	0.16089	0.410000	0.21098	0.028000	0.15324	-0.251000	0.11542	TTG		0.333	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		17	47	1	0	1.02788e-11	1	1.1407e-11	17	47					A	59760933	C	A	59760933	3	1	468	1	0	0	0	0	1	0	0	0	1514	593	21	5	279	5	BRIP1	17	59760933	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	24906616	59760933	21434277	59	31655											
ACTL9	284382	broad.mit.edu	37	chr19	8808029	8808029	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagagcgaggacccaccGcagagaagcacgttttgggc	11	5	15	10	3	0	3	0	1	0	2	0	6	0	4	2	2	2	3	2	2	2	2			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr19:8808029G>A	ENST00000324436.3	-	1	1143	c.1023C>T	c.(1021-1023)tgC>tgT	p.C341C		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	341						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.C341C(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGGACCCACCGCAGAGAAGCA	0.672																																						ENST00000324436.3																			1	Substitution - coding silent(1)	p.C341C(1)	NS(1)	NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(1021-1023)tgC>tgT		actin-like 9							33	34	34					19																	8808029		2199	4293	6492	SO:0001819	synonymous_variant	284382					cytoplasm|cytoskeleton		g.chr19:8808029G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1023C>T	19.37:g.8808029G>A							p.C341C	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	1143	-			341					A8K893|Q6X960	Silent	SNP	ENST00000324436.3	37	c.1023C>T	CCDS12207.1																																																																																				0.672	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		8	36	0	0	0	1	0	8	36					A	8808029	G	A	8808029	2	1	468	1	0	0	0	0	0	0	0	1	203	1079	38	1		1	ACTL9	19	8808029	Silent	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08		8808029	50320954	60	31656											
JAK3	3718	broad.mit.edu	37	chr19	17950368	17950368	+	Silent	SNP	G	G	T																															ccatcccagcaggttgccagGagctctcgaagactgctgtg																										TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr19:17950368G>T	ENST00000527670.1	-	9	1388	c.1359C>A	c.(1357-1359)ctC>ctA	p.L453L	JAK3_ENST00000458235.1_Silent_p.L453L|JAK3_ENST00000534444.1_Silent_p.L453L|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	453	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			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					Tofacitinib(DB08895)	AGGTTGCCAGGAGCTCTCGAA	0.627		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"acute megakaryocytic leukemia, ETP ALL"		0				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						c.(1357-1359)ctC>ctA		Janus kinase 3							36	30	32					19																	17950368		2203	4300	6503	SO:0001819	synonymous_variant	3718				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	g.chr19:17950368G>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1359C>A	19.37:g.17950368G>T						JAK3_ENST00000534444.1_Silent_p.L453L|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Silent_p.L453L	p.L453L	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			10	1458	-			453			SH2; atypical.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.1359C>A	CCDS12366.1																																																																																				0.627	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		5	6	1	0	3.59834e-05	1	3.76378e-05	5	6					T	17950368	G	T	17950368	2	4	468	1	0	0	0	0	0	0	0	1	7939	1161	41	5		5	JAK3	19	17950368	Silent	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08	9142339	17950368	41178615	61	31657	151	2									
JAK3	3718	broad.mit.edu	37	chr19	17950369	17950369	+	Missense_Mutation	SNP	A	A	T																															catcccagcaggttgccaggAgctctcgaagactgctgtgg																										TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr19:17950369A>T	ENST00000527670.1	-	9	1387	c.1358T>A	c.(1357-1359)cTc>cAc	p.L453H	JAK3_ENST00000458235.1_Missense_Mutation_p.L453H|JAK3_ENST00000534444.1_Missense_Mutation_p.L453H|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	453	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			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					Tofacitinib(DB08895)	GGTTGCCAGGAGCTCTCGAAG	0.627		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"acute megakaryocytic leukemia, ETP ALL"		0				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						c.(1357-1359)cTc>cAc		Janus kinase 3							36	30	32					19																	17950369		2203	4300	6503	SO:0001583	missense	3718				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	g.chr19:17950369A>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1358T>A	19.37:g.17950369A>T	ENSP00000432511:p.Leu453His					JAK3_ENST00000534444.1_Missense_Mutation_p.L453H|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Missense_Mutation_p.L453H	p.L453H	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			10	1457	-			453			SH2; atypical.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.1358T>A	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.599705	0.46318	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.60548	0.18;0.18;0.18	3.7	3.7	0.42460	SH2 motif (2);	0.156324	0.43579	D	0.000546	T	0.73401	0.3582	M	0.79805	2.47	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.83275	0.961;0.996;0.907	T	0.75929	-0.3144	10	0.87932	D	0	-12.9187	8.6906	0.34264	1.0:0.0:0.0:0.0	.	453;453;453	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	H	453	ENSP00000391676:L453H;ENSP00000432511:L453H;ENSP00000436421:L453H	ENSP00000413248:L453H	L	-	2	0	JAK3	17811369	1.000000	0.71417	0.995000	0.50966	0.119000	0.20118	5.365000	0.66116	1.558000	0.49541	0.374000	0.22700	CTC		0.627	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		5	6	0	0	0	1	0	5	6					T	17950369	A	T	17950369	3	4	468	1	0	0	0	0	1	0	0	0	7939	304	11	5	2076	5	JAK3	19	17950369	Missense_Mutation	SNP	A	TCGA-YL-A9WH-01A-11D-A377-08	1	17950369	41178614	62	31658	151	2									
ZNF160	90338	broad.mit.edu	37	chr19	53573131	53573131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagaaggaatttgttgaagtGgtgacactgaggaaccattg	13	11	13	4	0	0	4	0	3	0	1	0	6	0	6	1	3	1	1	1	3	5	4			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr19:53573131G>A	ENST00000429604.1	-	7	1071	c.656C>T	c.(655-657)cCa>cTa	p.P219L	ZNF160_ENST00000418871.1_Missense_Mutation_p.P219L|ZNF160_ENST00000601421.1_Missense_Mutation_p.P183L|ZNF160_ENST00000599056.1_Missense_Mutation_p.P219L	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	219					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTGTTGAAGTGGTGACACTGA	0.383																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(547-549)cCa>cTa		zinc finger protein 160							173	165	168					19																	53573131		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53573131G>A	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"Zinc fingers, C2H2-type", "-"	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.656C>T	19.37:g.53573131G>A	ENSP00000406201:p.Pro219Leu					ZNF160_ENST00000599056.1_Missense_Mutation_p.P219L|ZNF160_ENST00000418871.1_Missense_Mutation_p.P219L|ZNF160_ENST00000429604.1_Missense_Mutation_p.P219L	p.P183L			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	1424	-			219					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.548C>T	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634944	0.29068	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.07114	3.22;3.22	2.03	-0.187	0.13268	.	.	.	.	.	T	0.04092	0.0114	N	0.17631	0.505	0.09310	N	1	B	0.31581	0.329	B	0.22152	0.038	T	0.43475	-0.9389	9	0.26408	T	0.33	.	4.8323	0.13447	0.5078:0.0:0.4922:0.0	.	219	Q9HCG1	ZN160_HUMAN	L	219	ENSP00000406201:P219L;ENSP00000409597:P219L	ENSP00000409597:P219L	P	-	2	0	ZNF160	58264943	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.622000	0.24433	0.009000	0.14813	-0.291000	0.09656	CCA		0.383	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		24	110	0	0	0	1	0	24	110					A	53573131	G	A	53573131	3	1	468	1	0	0	0	0	1	0	0	0	17736	1348	47	3	1804	3	ZNF160	19	53573131	Missense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08	35622762	53573131	5555852	63	31659											
TMEM90B	79953	broad.mit.edu	37	chr20	24565546	24565546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcctcatgatgcccccgCgggaccacctgggcctcagt	6	9	10	16	2	2	1	2	1	0	0	3	2	3	2	6	2	1	0	6	2	0	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr20:24565546C>T	ENST00000376862.3	+	3	1168	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	SYNDIG1_ENST00000482637.1_3'UTR	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	179					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GATGCCCCCGCGGGACCACCT	0.552																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(535-537)Cgg>Tgg		synapse differentiation inducing 1							138	126	130					20																	24565546		2203	4300	6503	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24565546C>T	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.535C>T	20.37:g.24565546C>T	ENSP00000366058:p.Arg179Trp					SYNDIG1_ENST00000482637.1_3'UTR	p.R179W	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			3	1168	+			179					Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.535C>T	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090311	0.36855	.	.	ENSG00000101463	ENST00000376862	D	0.87334	-2.24	5.1	1.96	0.26148	.	0.000000	0.64402	D	0.000001	D	0.90109	0.6910	M	0.62723	1.935	0.47778	D	0.99951	D	0.89917	1.0	D	0.79784	0.993	D	0.87443	0.2396	10	0.87932	D	0	-28.9413	6.8243	0.23874	0.4981:0.4176:0.0:0.0843	.	179	Q9H7V2	SYNG1_HUMAN	W	179	ENSP00000366058:R179W	ENSP00000366058:R179W	R	+	1	2	SYNDIG1	24513546	0.000000	0.05858	0.235000	0.24058	0.250000	0.25880	-0.503000	0.06383	0.129000	0.18514	0.561000	0.74099	CGG		0.552	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		12	106	0	0	0	1	0	12	106					T	24565546	C	T	24565546	3	4	468	1	0	0	0	0	1	0	0	0	16216	759	27	1	541	1	TMEM90B	20	24565546	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08		24565546	38459974	64	31660											
ASXL1	171023	broad.mit.edu	37	chr20	31022345	31022345	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccggggttggactggCgccaggaccctcgcagacat	6	7	14	14	3	0	1	0	0	0	1	2	3	1	3	4	5	1	2	4	5	0	1	rs199829982		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr20:31022345C>T	ENST00000375687.4	+	13	2254	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	ASXL1_ENST00000306058.5_Silent_p.G605G	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	610	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q592fs*5(1)|p.G610G(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						GTTGGACTGGCGCCAGGACCC	0.632			"F, N, Mis"		"MDS, CMML"																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"F, N, Mis"	additional sex combs like 1			L			"MDS, CMML"		2	Deletion - Frameshift(1)|Substitution - coding silent(1)	p.Q592fs*5(1)|p.G610G(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(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						c.(1828-1830)ggC>ggT		additional sex combs like 1 (Drosophila)		C		1,4405		0,1,2202	29	31	30		1830	-10.8	0.5	20		30	1,8599		0,1,4299	no	coding-synonymous	ASXL1	NM_015338.5		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		610/1542	31022345	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022345C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1830C>T	20.37:g.31022345C>T						ASXL1_ENST00000306058.5_Silent_p.G605G	p.G610G	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	2254	+			610					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.1830C>T	CCDS13201.1																																																																																				0.632	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		35	39	0	0	0	1	0	35	39					T	31022345	C	T	31022345	2	4	468	1	0	0	0	0	0	0	0	1	1066	755	27	1		1	ASXL1	20	31022345	Silent	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	6456799	31022345	32003175	65	31661											
ZNRF3	84133	broad.mit.edu	37	chr22	29438481	29438481	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtttttttaactctggcAggccaagcgagcagtacagc	9	11	11	10	1	1	0	0	0	1	0	1	1	1	0	1	2	5	5	1	2	3	5			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr22:29438481A>G	ENST00000544604.2	+	3	601		c.e3-1		ZNRF3_ENST00000406323.3_Splice_Site|ZNRF3_ENST00000402174.1_Splice_Site|ZNRF3_ENST00000332811.4_Splice_Site	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3						canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TAACTCTGGCAGGCCAAGCGA	0.493																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.e3-1		zinc and ring finger 3							75	74	74					22																	29438481		1907	4127	6034	SO:0001630	splice_region_variant	84133					integral to membrane	zinc ion binding	g.chr22:29438481A>G	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"RING-type (C3HC4) zinc fingers"	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.427-1A>G	22.37:g.29438481A>G						ZNRF3_ENST00000402174.1_Splice_Site|ZNRF3_ENST00000332811.4_Splice_Site|ZNRF3_ENST00000406323.3_Splice_Site		NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			3	601	+								B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Splice_Site	SNP	ENST00000544604.2	37		CCDS56225.1	.	.	.	.	.	.	.	.	.	.	.	19.88	3.909111	0.72868	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000402174;ENST00000406323	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.559	0.76223	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNRF3	27768481	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	8.397000	0.90193	2.323000	0.78572	0.529000	0.55759	.		0.493	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972	Intron	17	15	0	0	0	1	0	17	15					G	29438481	A	G	29438481	5	3	468	1	0	0	0	0	0	0	1	0	18210	202	7	4	131	4	ZNRF3	22	29438481	Splice_Site	SNP	A	TCGA-YL-A9WH-01A-11D-A377-08		29438481	21866085	66	31662											
IL3RA	3563	broad.mit.edu	37	chrX	1484095	1484095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagtacaaataagagcccGggaaagagtgtatgaattct	16	8	10	7	1	1	3	0	1	1	2	1	4	1	4	1	1	2	2	1	1	6	4			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chrX:1484095G>A	ENST00000331035.4	+	9	1173	c.824G>A	c.(823-825)cGg>cAg	p.R275Q	IL3RA_ENST00000381469.2_Missense_Mutation_p.R197Q	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	275					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ATAAGAGCCCGGGAAAGAGTG	0.577																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(823-825)cGg>cAg		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)	G	GLN/ARG	1,4401		0,1,2200	75	87	83		824	-0.7	0	X	dbSNP_134	83	0,8582		0,0,4291	no	missense	IL3RA	NM_002183.2	43	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	benign	275/379	1484095	1,12983	2201	4291	6492	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1484095G>A	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"Pseudoautosomal regions / PAR1", "Interleukins and interleukin receptors", "CD molecules"	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.824G>A	X.37:g.1484095G>A	ENSP00000327890:p.Arg275Gln					IL3RA_ENST00000381469.2_Missense_Mutation_p.R197Q	p.R275Q	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			9	1173	+		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)	275					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.824G>A	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	0.756	-0.771096	0.02974	2.27E-4	0.0	ENSG00000185291	ENST00000331035;ENST00000381469	D;D	0.96651	-2.08;-4.08	0.355	-0.71	0.11234	Fibronectin, type III (1);Immunoglobulin-like fold (1);	661.220000	0.01380	U	0.012919	D	0.88599	0.6480	N	0.03608	-0.345	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.11329	0.006;0.001	T	0.81638	-0.0842	9	0.35671	T	0.21	-5.3156	.	.	.	.	196;275	P26951-2;P26951	.;IL3RA_HUMAN	Q	275;197	ENSP00000327890:R275Q;ENSP00000370878:R197Q	ENSP00000327890:R275Q	R	+	2	0	IL3RA	1444095	0.000000	0.05858	0.001000	0.08648	0.477000	0.33069	-0.649000	0.05384	-0.492000	0.06687	0.081000	0.15443	CGG		0.577	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			18	57	0	0	0	1	0	18	57					A	1484095	G	A	1484095	3	1	468	1	0	0	0	0	1	0	0	0	7695	1116	39	2	854	2	IL3RA	23	1484095	Missense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08		1484095	153786465	67	31663											
MXRA5	25878	broad.mit.edu	37	chrX	3227766	3227766	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatccacatttcagaagacGtggatgtaagttgttttgga	12	13	11	5	1	1	2	1	0	0	2	2	5	2	4	1	2	0	3	1	2	3	5			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chrX:3227766G>C	ENST00000217939.6	-	7	8632	c.8478C>G	c.(8476-8478)caC>caG	p.H2826Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2826	Ig-like C2-type 12.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTCAGAAGACGTGGATGTAAG	0.458																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(8476-8478)caC>caG		matrix-remodelling associated 5							65	59	61					X																	3227766		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3227766G>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.8478C>G	X.37:g.3227766G>C	ENSP00000217939:p.His2826Gln						p.H2826Q	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	8632	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2826			Ig-like C2-type 12.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.8478C>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	5.794	0.330811	0.10956	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64438	-0.1	3.85	-3.32	0.04973	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42172	U	0.000759	T	0.39172	0.1068	N	0.01761	-0.735	0.24585	N	0.993858	P	0.50066	0.931	P	0.53809	0.735	T	0.53767	-0.8392	10	0.15499	T	0.54	.	12.31	0.54924	0.3449:0.0:0.6551:0.0	.	2826	Q9NR99	MXRA5_HUMAN	Q	2826	ENSP00000217939:H2826Q	ENSP00000217939:H2826Q	H	-	3	2	MXRA5	3237766	0.989000	0.36119	0.078000	0.20375	0.025000	0.11179	0.122000	0.15687	-0.753000	0.04721	-1.329000	0.01275	CAC		0.458	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		14	2	0	0	0	1	0	14	2					C	3227766	G	C	3227766	3	2	468	1	0	0	0	0	1	0	0	0	10003	1136	40	5	12	5	MXRA5	23	3227766	Missense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08	1743671	3227766	152042794	68	31664											
WDR13	64743	broad.mit.edu	37	chrX	48458010	48458010	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccacgtcagcagcagAggcaagtcgggccatggccg	8	4	16	13	3	1	1	1	0	0	1	2	1	1	1	3	4	3	3	3	4	1	0			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chrX:48458010A>T	ENST00000218056.5	+	4	933	c.428A>T	c.(427-429)gAg>gTg	p.E143V	WDR13_ENST00000376729.5_Missense_Mutation_p.E143V|WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	143						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TCAGCAGCAGAGGCAAGTCGG	0.602																																						ENST00000218056.5																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						c.(427-429)gAg>gTg		WD repeat domain 13							87	74	78					X																	48458010		2203	4300	6503	SO:0001583	missense	64743					cytoplasm|nucleus		g.chrX:48458010A>T	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"WD repeat domain containing"	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.428A>T	X.37:g.48458010A>T	ENSP00000218056:p.Glu143Val					WDR13_ENST00000492715.1_3'UTR	p.E143V	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN			4	933	+			143					Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	c.428A>T	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589955	0.86851	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.73047	-0.71;-0.71	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	M	0.61703	1.905	0.80722	D	1	D;D	0.71674	0.996;0.998	P;P	0.59221	0.806;0.854	T	0.78329	-0.2246	10	0.42905	T	0.14	-16.9547	12.3712	0.55256	1.0:0.0:0.0:0.0	.	21;143	B4DVQ7;Q9H1Z4	.;WDR13_HUMAN	V	143	ENSP00000365919:E143V;ENSP00000218056:E143V	ENSP00000218056:E143V	E	+	2	0	WDR13	48342954	1.000000	0.71417	0.995000	0.50966	0.841000	0.47740	8.148000	0.89630	1.826000	0.53198	0.430000	0.28490	GAG		0.602	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			34	12	0	0	0	1	0	34	12					T	48458010	A	T	48458010	3	4	468	1	0	0	0	0	1	0	0	0	17272	304	11	5	442	5	WDR13	23	48458010	Missense_Mutation	SNP	A	TCGA-YL-A9WH-01A-11D-A377-08	45230244	48458010	106812550	69	31665											
AMOT	154796	broad.mit.edu	37	chrX	112022741	112022741	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactggagcaggaacagagaTgggagcaacagctgcagttt	14	6	14	7	0	0	1	0	0	0	1	0	5	0	4	0	3	7	5	0	3	3	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chrX:112022741T>C	ENST00000524145.1	-	11	2715	c.2641A>G	c.(2641-2643)Atc>Gtc	p.I881V	AMOT_ENST00000304758.1_Missense_Mutation_p.I472V|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371959.3_Missense_Mutation_p.I881V|AMOT_ENST00000371962.1_Missense_Mutation_p.I649V			Q4VCS5	AMOT_HUMAN	angiomotin	881					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			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						ggaacagagatgggagcaaca	0.597																																						ENST00000371959.3																			0				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						c.(2641-2643)Atc>Gtc		angiomotin							109	65	80					X																	112022741		2203	4300	6503	SO:0001583	missense	154796				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	g.chrX:112022741T>C	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2641A>G	X.37:g.112022741T>C	ENSP00000429013:p.Ile881Val					AMOT_ENST00000371962.1_Missense_Mutation_p.I649V|AMOT_ENST00000304758.1_Missense_Mutation_p.I472V|AMOT_ENST00000524145.1_Missense_Mutation_p.I881V	p.I881V	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			10	2640	-			881					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.2641A>G	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	T	10.49	1.365712	0.24684	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000432214	T;T;T;T	0.37915	1.17;2.3;2.55;2.3	5.2	1.43	0.22495	.	0.234355	0.32134	N	0.006537	T	0.21962	0.0529	L	0.44542	1.39	0.20821	N	0.999844	B	0.02656	0.0	B	0.01281	0.0	T	0.12656	-1.0539	10	0.28530	T	0.3	-0.72	0.9463	0.01366	0.1577:0.2934:0.16:0.3889	.	881	Q4VCS5	AMOT_HUMAN	V	472;881;649;881;121	ENSP00000305557:I472V;ENSP00000361027:I881V;ENSP00000361030:I649V;ENSP00000429013:I881V	ENSP00000305557:I472V	I	-	1	0	AMOT	111909397	0.893000	0.30496	0.950000	0.38849	0.700000	0.40528	0.247000	0.18179	0.232000	0.21100	0.430000	0.28490	ATC		0.597	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		14	4	0	0	0	1	0	14	4					C	112022741	T	C	112022741	3	2	468	1	0	0	0	0	1	0	0	0	582	1464	51	4	621	4	AMOT	23	112022741	Missense_Mutation	SNP	T	TCGA-YL-A9WH-01A-11D-A377-08	63564731	112022741	43247819	70	31666											
PCDH11Y	83259	broad.mit.edu	37	chrY	4925224	4925224	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagatcttcactaccggCgctcgcattgatcgtgagaa	9	10	12	10	4	2	3	1	3	1	2	4	5	2	3	1	2	1	2	1	2	2	3			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chrY:4925224C>T	ENST00000333703.4	+	4	840	c.327C>T	c.(325-327)ggC>ggT	p.G109G	PCDH11Y_ENST00000362095.5_Silent_p.G120G|PCDH11Y_ENST00000215473.6_Silent_p.G120G	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	120	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCACTACCGGCGCTCGCATTG	0.448																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(325-327)ggC>ggT		protocadherin 11 Y-linked																																				SO:0001819	synonymous_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4925224C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.327C>T	Y.37:g.4925224C>T						PCDH11Y_ENST00000362095.5_Silent_p.G120G|PCDH11Y_ENST00000215473.6_Silent_p.G120G	p.G109G	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			4	840	+			120			Cadherin 1.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Silent	SNP	ENST00000333703.4	37	c.327C>T	CCDS14776.1																																																																																				0.448	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		46	34	0	0	0	1	0	46	34					T	4925224	C	T	4925224	2	4	468	1	0	0	0	0	0	0	0	1	11509	755	27	1		1	PCDH11Y	24	4925224	Silent	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08		4925224	54448342	71	31667											
RPRD2	23248	broad.mit.edu	37	chr1	150445317	150445317	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccccctcctccaccccCtgttgaccactctggagttg	5	10	6	20	0	1	1	0	1	1	0	4	2	4	2	8	1	0	2	8	1	0	2			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr1:150445317C>G	ENST00000369068.4	+	11	3897	c.3893C>G	c.(3892-3894)cCt>cGt	p.P1298R	RPRD2_ENST00000401000.4_Missense_Mutation_p.P1272R|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1298	Pro-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				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						CCTCCACCCCCTGTTGACCAC	0.607																																						ENST00000401000.4																			0				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						c.(3814-3816)cCt>cGt		regulation of nuclear pre-mRNA domain containing 2							39	42	41					1																	150445317		1931	4127	6058	SO:0001583	missense	23248						protein binding	g.chr1:150445317C>G	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3893C>G	1.37:g.150445317C>G	ENSP00000358064:p.Pro1298Arg					RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.P1298R	p.P1272R			Q5VT52	RPRD2_HUMAN			10	3880	+			1298			Pro-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.3815C>G	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664996	0.47572	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.51325	0.72;0.71	4.45	4.45	0.53987	.	0.067994	0.64402	D	0.000015	T	0.28732	0.0712	N	0.19112	0.55	0.80722	D	1	B;P	0.36837	0.435;0.571	B;B	0.41332	0.193;0.354	T	0.38866	-0.9641	10	0.87932	D	0	-4.7077	17.329	0.87258	0.0:1.0:0.0:0.0	.	1298;1272	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	R	1272;1298	ENSP00000383785:P1272R;ENSP00000358064:P1298R	ENSP00000358064:P1298R	P	+	2	0	RPRD2	148711941	0.856000	0.29760	0.975000	0.42487	0.758000	0.43043	3.835000	0.55805	2.300000	0.77407	0.555000	0.69702	CCT		0.607	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		3	9	0	0	0	1	0	3	9					G	150445317	C	G	150445317	3	3	469	1	0	0	0	0	1	0	0	0	13617	681	24	5	3935	5	RPRD2	1	150445317	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08		150445317	98805304	1	31668											
SPTA1	6708	broad.mit.edu	37	chr1	158646058	158646058	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgggaaagtgtcagctTctctgctttagcacataact	11	12	10	8	0	2	0	1	0	1	0	3	2	2	2	0	2	4	3	0	2	3	4			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr1:158646058T>C	ENST00000368147.4	-	8	1165	c.985A>G	c.(985-987)Aag>Gag	p.K329E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	329					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			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)					AGTGTCAGCTTCTCTGCTTTA	0.498																																						ENST00000368148.3																			0				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						c.(985-987)Aag>Gag		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							205	193	197					1																	158646058		1924	4138	6062	SO:0001583	missense	6708				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	g.chr1:158646058T>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.985A>G	1.37:g.158646058T>C	ENSP00000357129:p.Lys329Glu					SPTA1_ENST00000368147.3_Missense_Mutation_p.K329E	p.K329E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			8	1165	-	all_hematologic(112;0.0378)		329					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.985A>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.588872	0.66105	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52983	0.64;0.64	5.24	5.24	0.73138	.	0.242396	0.21391	N	0.075308	T	0.28466	0.0704	L	0.52573	1.65	0.37214	D	0.904921	P	0.38048	0.616	B	0.41135	0.348	T	0.10847	-1.0612	10	0.23302	T	0.38	.	9.7896	0.40697	0.0:0.0:0.2764:0.7236	.	329	P02549	SPTA1_HUMAN	E	329	ENSP00000357130:K329E;ENSP00000357129:K329E	ENSP00000357129:K329E	K	-	1	0	SPTA1	156912682	1.000000	0.71417	0.986000	0.45419	0.783000	0.44284	5.725000	0.68507	2.186000	0.69663	0.533000	0.62120	AAG		0.498	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		72	99	0	0	0	1	0	72	99					C	158646058	T	C	158646058	3	2	469	1	0	0	0	0	1	0	0	0	15115	1792	62	4	6454	4	SPTA1	1	158646058	Missense_Mutation	SNP	T	TCGA-YL-A9WI-01A-11D-A377-08	8200741	158646058	90604563	2	31669											
OR6K3	391114	broad.mit.edu	37	chr1	158687669	158687669	+	Silent	SNP	G	G	A																															atgaggttggagagcatcttGggaatggtggctgtggtgta																										TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr1:158687669G>A	ENST00000368146.1	-	1	284	c.285C>T	c.(283-285)ccC>ccT	p.P95P	OR6K3_ENST00000368145.1_Silent_p.P79P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGAGCATCTTGGGAATGGTGG	0.453																																						ENST00000368146.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41						c.(283-285)ccC>ccT		olfactory receptor, family 6, subfamily K, member 3							153	159	157					1																	158687669		2203	4300	6503	SO:0001819	synonymous_variant	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687669G>A	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"GPCR / Class A : Olfactory receptors"	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.285C>T	1.37:g.158687669G>A						OR6K3_ENST00000368145.1_Silent_p.P79P	p.P95P			Q8NGY3	OR6K3_HUMAN			1	284	-	all_hematologic(112;0.0378)		95					Q5VUV0|Q6IFR5	Silent	SNP	ENST00000368146.1	37	c.285C>T																																																																																					0.453	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				40	74	0	0	0	1	0	40	74					A	158687669	G	A	158687669	2	1	469	1	0	0	0	0	0	0	0	1	11203	1335	47	3		3	OR6K3	1	158687669	Silent	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08	41611	158687669	90562952	3	31670	152	2									
OR6K3	391114	broad.mit.edu	37	chr1	158687670	158687670	+	Missense_Mutation	SNP	G	G	T																															tgaggttggagagcatcttgGgaatggtggctgtggtgtac																										TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr1:158687670G>T	ENST00000368146.1	-	1	283	c.284C>A	c.(283-285)cCc>cAc	p.P95H	OR6K3_ENST00000368145.1_Missense_Mutation_p.P79H			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GAGCATCTTGGGAATGGTGGC	0.453																																						ENST00000368146.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41						c.(283-285)cCc>cAc		olfactory receptor, family 6, subfamily K, member 3							153	159	157					1																	158687670		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687670G>T	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"GPCR / Class A : Olfactory receptors"	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.284C>A	1.37:g.158687670G>T	ENSP00000357128:p.Pro95His					OR6K3_ENST00000368145.1_Missense_Mutation_p.P79H	p.P95H			Q8NGY3	OR6K3_HUMAN			1	283	-	all_hematologic(112;0.0378)		95					Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.284C>A		.	.	.	.	.	.	.	.	.	.	G	21.3	4.121324	0.77436	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.01871	4.59;4.59	3.88	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14141	0.0342	H	0.96015	3.755	0.46654	D	0.999141	D	0.89917	1.0	D	0.97110	1.0	T	0.11616	-1.0580	9	0.87932	D	0	.	15.1179	0.72419	0.0:0.0:1.0:0.0	.	95	Q8NGY3	OR6K3_HUMAN	H	79;95	ENSP00000357127:P79H;ENSP00000357128:P95H	ENSP00000357127:P79H	P	-	2	0	OR6K3	156954294	1.000000	0.71417	0.937000	0.37676	0.989000	0.77384	5.928000	0.70088	2.139000	0.66308	0.404000	0.27445	CCC		0.453	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				40	77	1	0	6.5261e-18	1	7.4584e-18	40	77					T	158687670	G	T	158687670	3	4	469	1	0	0	0	0	1	0	0	0	11203	1232	43	5	713	5	OR6K3	1	158687670	Missense_Mutation	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08	1	158687670	90562951	4	31671	152	2									
APOB	338	broad.mit.edu	37	chr2	21233084	21233084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttttactaaatttacaCggatatgatagtgctcatca	12	17	6	6	1	2	1	2	1	0	0	2	2	2	2	0	1	3	2	0	1	6	9	rs200106845		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:21233084C>T	ENST00000233242.1	-	26	6783	c.6656G>A	c.(6655-6657)cGt>cAt	p.R2219H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2219					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			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)					TAAATTTACACGGATATGATA	0.259													C|||	1	0.000199681	0	0	5008	,	,		19021	0		0	False		,,,				2504	0.001					ENST00000233242.1																			0				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						c.(6655-6657)cGt>cAt		apolipoprotein B	Atorvastatin(DB01076)	C	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	33	35	34		6656	1.3	0.8	2		34	0,8582		0,0,4291	no	missense	APOB	NM_000384.2	29	0,2,6490	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	2219/4564	21233084	2,12982	2201	4291	6492	SO:0001583	missense	338				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	g.chr2:21233084C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6656G>A	2.37:g.21233084C>T	ENSP00000233242:p.Arg2219His						p.R2219H	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	6783	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2219					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6656G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.439026	0.25900	4.54E-4	0.0	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00882	5.58	5.54	1.34	0.21922	.	1.037320	0.07625	N	0.927594	T	0.00967	0.0032	N	0.19112	0.55	0.09310	N	0.999993	B	0.22541	0.071	B	0.12156	0.007	T	0.49916	-0.8888	10	0.40728	T	0.16	.	11.1755	0.48596	0.0:0.7642:0.0:0.2358	.	2219	P04114	APOB_HUMAN	H	2219	ENSP00000233242:R2219H	ENSP00000233242:R2219H	R	-	2	0	APOB	21086589	0.078000	0.21339	0.750000	0.31169	0.615000	0.37417	0.193000	0.17116	0.006000	0.14734	0.561000	0.74099	CGT		0.259	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			18	41	0	0	0	1	0	18	41					T	21233084	C	T	21233084	3	4	469	1	0	0	0	0	1	0	0	0	785	536	19	1	7051	1	APOB	2	21233084	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08		21233084	221966289	5	31672											
NCOA1	8648	broad.mit.edu	37	chr2	24929887	24929887	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctaatatttcgacattaagCtctcccgttggcatgacaag	11	12	7	11	2	1	1	0	1	1	0	3	2	1	1	2	1	1	3	2	1	4	5			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:24929887C>G	ENST00000406961.1	+	13	2200	c.1548C>G	c.(1546-1548)agC>agG	p.S516R	NCOA1_ENST00000395856.3_Missense_Mutation_p.S516R|NCOA1_ENST00000538539.1_Missense_Mutation_p.S516R|NCOA1_ENST00000405141.1_Missense_Mutation_p.S516R|NCOA1_ENST00000407230.1_Missense_Mutation_p.S365R|NCOA1_ENST00000288599.5_Missense_Mutation_p.S516R|NCOA1_ENST00000348332.3_Missense_Mutation_p.S516R			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	516	Interaction with STAT3.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		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)					CGACATTAAGCTCTCCCGTTG	0.418			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(1546-1548)agC>agG		nuclear receptor coactivator 1							92	96	95					2																	24929887		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24929887C>G	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1548C>G	2.37:g.24929887C>G	ENSP00000385216:p.Ser516Arg					NCOA1_ENST00000395856.3_Missense_Mutation_p.S516R|NCOA1_ENST00000538539.1_Missense_Mutation_p.S516R|NCOA1_ENST00000288599.5_Missense_Mutation_p.S516R|NCOA1_ENST00000406961.1_Missense_Mutation_p.S516R|NCOA1_ENST00000407230.1_Missense_Mutation_p.S365R|NCOA1_ENST00000348332.3_Missense_Mutation_p.S516R	p.S516R			Q15788	NCOA1_HUMAN			14	2259	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		516			Interaction with STAT3.|Ser-rich.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.1548C>G	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	9.957	1.221636	0.22457	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02032	4.61;4.61;4.49;4.61;4.61;4.61;4.61	5.23	1.95	0.26073	.	0.429828	0.28006	N	0.016964	T	0.02455	0.0075	L	0.36672	1.1	0.25094	N	0.990835	P;P;P;B	0.37276	0.589;0.454;0.589;0.421	B;B;B;B	0.36608	0.229;0.115;0.229;0.08	T	0.41179	-0.9523	10	0.72032	D	0.01	.	10.2157	0.43166	0.0:0.7214:0.0:0.2786	.	516;516;516;365	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	R	516;516;365;516;516;516;516	ENSP00000385216:S516R;ENSP00000385097:S516R;ENSP00000385195:S365R;ENSP00000444039:S516R;ENSP00000320940:S516R;ENSP00000288599:S516R;ENSP00000379197:S516R	ENSP00000288599:S516R	S	+	3	2	NCOA1	24783391	1.000000	0.71417	0.990000	0.47175	0.796000	0.44982	1.329000	0.33770	0.715000	0.32103	-0.136000	0.14681	AGC		0.418	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		27	45	0	0	0	1	0	27	45					G	24929887	C	G	24929887	3	3	469	1	0	0	0	0	1	0	0	0	10228	796	28	5	1582	5	NCOA1	2	24929887	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08	3696803	24929887	218269486	6	31673											
C2orf61	285051	broad.mit.edu	37	chr2	47378575	47378575	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccttccttcgtttttaaaaTtgtaggttgctatcactgga	8	18	7	8	1	1	0	1	0	0	0	4	1	3	1	2	2	1	4	2	2	4	9			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:47378575T>G	ENST00000445927.2	-	3	347	c.221A>C	c.(220-222)aAt>aCt	p.N74T	RP11-761B3.1_ENST00000422269.1_3'UTR|C2orf61_ENST00000294947.2_Missense_Mutation_p.N74T	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	74								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GTTTTTAAAATTGTAGGTTGC	0.398																																						ENST00000294947.2																			2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(1)|kidney(1)|lung(2)	4						c.(220-222)aAt>aCt		chromosome 2 open reading frame 61							165	158	160					2																	47378575		2203	4300	6503	SO:0001583	missense	285051							g.chr2:47378575T>G	AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.221A>C	2.37:g.47378575T>G	ENSP00000408527:p.Asn74Thr					C2orf61_ENST00000445927.2_Missense_Mutation_p.N74T|CALM2_ENST00000422269.1_5'UTR	p.N74T	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		3	256	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	74					H7C2Z2	Missense_Mutation	SNP	ENST00000445927.2	37	c.221A>C	CCDS54356.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.574134	0.45902	.	.	ENSG00000239605	ENST00000445927;ENST00000294947	T;T	0.33438	1.41;1.41	5.12	0.161	0.14977	.	0.224693	0.31323	N	0.007843	T	0.30854	0.0778	M	0.61703	1.905	0.26256	N	0.978646	P	0.36909	0.573	B	0.40901	0.343	T	0.19745	-1.0296	10	0.56958	D	0.05	-6.3207	8.8281	0.35067	0.0:0.3672:0.0:0.6328	.	74	Q8N801	CB061_HUMAN	T	74	ENSP00000408527:N74T;ENSP00000294947:N74T	ENSP00000294947:N74T	N	-	2	0	C2orf61	47232079	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	0.617000	0.24359	0.014000	0.14944	0.383000	0.25322	AAT		0.398	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173649		46	59	0	0	0	1	0	46	59					G	47378575	T	G	47378575	3	3	469	1	0	0	0	0	1	0	0	0	2180	1493	52	5	560	5	C2orf61	2	47378575	Missense_Mutation	SNP	T	TCGA-YL-A9WI-01A-11D-A377-08	22448688	47378575	195820798	7	31674											
IL18RAP	8807	broad.mit.edu	37	chr2	103063627	103063627	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactggattgaaatagtgctGctgtaccggacctaccagag	11	9	11	10	1	0	2	0	1	0	1	0	4	0	4	3	2	4	3	3	2	4	4			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:103063627G>A	ENST00000264260.2	+	10	1759	c.1170G>A	c.(1168-1170)ctG>ctA	p.L390L	IL18RAP_ENST00000409369.1_Silent_p.L248L	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	390					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AAATAGTGCTGCTGTACCGGA	0.577																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1168-1170)ctG>ctA		interleukin 18 receptor accessory protein							150	152	152					2																	103063627		2203	4300	6503	SO:0001819	synonymous_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103063627G>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1170G>A	2.37:g.103063627G>A						IL18RAP_ENST00000409369.1_Silent_p.L248L	p.L390L	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			10	1759	+			390					B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.1170G>A	CCDS2061.1																																																																																				0.577	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		65	73	0	0	0	1	0	65	73					A	103063627	G	A	103063627	2	1	469	1	0	0	0	0	0	0	0	1	7648	1306	46	3		3	IL18RAP	2	103063627	Silent	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08	55685052	103063627	140135746	8	31675											
XIRP2	129446	broad.mit.edu	37	chr2	168107563	168107563	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatgtctcctgcaacaCttcgtcgtcaaattaagata	12	13	5	11	2	4	1	3	0	1	1	7	1	4	1	1	0	2	1	1	0	4	3			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:168107563C>G	ENST00000409195.1	+	9	9750	c.9661C>G	c.(9661-9663)Ctt>Gtt	p.L3221V	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L2999V|XIRP2_ENST00000295237.9_Missense_Mutation_p.L3221V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3046					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				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						TCCTGCAACACTTCGTCGTCA	0.453																																						ENST00000409195.1																			0				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						c.(9661-9663)Ctt>Gtt		xin actin-binding repeat containing 2							69	68	68					2																	168107563		1924	4134	6058	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107563C>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9661C>G	2.37:g.168107563C>G	ENSP00000386840:p.Leu3221Val					XIRP2_ENST00000409273.1_Missense_Mutation_p.L2999V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L3221V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	p.L3221V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	9750	+			3046					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9661C>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118128	0.56505	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02863	4.14;4.14;4.13	5.45	5.45	0.79879	.	0.325116	0.30437	N	0.009634	T	0.13457	0.0326	L	0.58669	1.825	0.40016	D	0.97535	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.83275	0.991;0.996;0.942	T	0.00330	-1.1812	10	0.48119	T	0.1	-14.3517	18.4306	0.90624	0.0:1.0:0.0:0.0	.	3046;3046;2999	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	3221;3221;2999;635	ENSP00000386840:L3221V;ENSP00000295237:L3221V;ENSP00000387255:L2999V	ENSP00000295237:L3221V	L	+	1	0	XIRP2	167815809	0.995000	0.38212	0.978000	0.43139	0.993000	0.82548	3.074000	0.50065	2.729000	0.93468	0.460000	0.39030	CTT		0.453	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		26	30	0	0	0	1	0	26	30					G	168107563	C	G	168107563	3	3	469	1	0	0	0	0	1	0	0	0	17427	565	20	5	9691	5	XIRP2	2	168107563	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08	65043936	168107563	75091810	9	31676											
TTC30A	92104	broad.mit.edu	37	chr2	178482390	178482390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaacttatacgtcaaatggGcattttctgccaggacatct	11	12	9	9	1	3	0	1	0	2	0	3	2	3	2	1	3	3	1	1	3	4	4			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:178482390G>A	ENST00000355689.5	-	1	1304	c.1040C>T	c.(1039-1041)gCc>gTc	p.A347V	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	347					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CGTCAAATGGGCATTTTCTGC	0.448																																						ENST00000355689.4																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1039-1041)gCc>gTc		tetratricopeptide repeat domain 30A							116	123	121					2																	178482390		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178482390G>A	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"Tetratricopeptide (TTC) repeat domain containing"	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1040C>T	2.37:g.178482390G>A	ENSP00000347915:p.Ala347Val					AC073834.3_ENST00000357045.4_RNA	p.A347V	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1304	-			347					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.1040C>T	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072863	0.76415	.	.	ENSG00000197557	ENST00000355689	T	0.36340	1.26	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	M	0.70275	2.135	0.80722	D	1	P	0.51653	0.947	P	0.46110	0.504	T	0.47142	-0.9140	10	0.48119	T	0.1	.	20.3829	0.98937	0.0:0.0:1.0:0.0	.	347	Q86WT1	TT30A_HUMAN	V	347	ENSP00000347915:A347V	ENSP00000347915:A347V	A	-	2	0	TTC30A	178190636	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.722000	0.84778	2.823000	0.97156	0.644000	0.83932	GCC		0.448	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		36	50	0	0	0	1	0	36	50					A	178482390	G	A	178482390	3	1	469	1	0	0	0	0	1	0	0	0	16695	1203	42	3	961	3	TTC30A	2	178482390	Missense_Mutation	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08	10374827	178482390	64716983	10	31677											
WDR75	84128	broad.mit.edu	37	chr2	190315668	190315668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggcacaattaaactgtggGactatatagatggcatctta	14	12	9	6	0	1	1	0	0	1	1	1	2	1	2	0	3	1	2	0	3	7	5			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:190315668G>T	ENST00000314761.4	+	3	316	c.256G>T	c.(256-258)Gac>Tac	p.D86Y		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	86						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TAAACTGTGGGACTATATAGA	0.284																																						ENST00000314761.4																			0				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25						c.(256-258)Gac>Tac		WD repeat domain 75							199	204	202					2																	190315668		2203	4299	6502	SO:0001583	missense	84128					nucleolus		g.chr2:190315668G>T	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"WD repeat domain containing"	25725	protein-coding gene	gene with protein product	"UTP17, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.256G>T	2.37:g.190315668G>T	ENSP00000314193:p.Asp86Tyr						p.D86Y	NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		3	316	+			86					Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.256G>T	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633741	0.87660	.	.	ENSG00000115368	ENST00000314761	T	0.11930	2.73	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.66356	-0.5944	10	0.87932	D	0	-22.0563	17.5147	0.87770	0.0:0.0:1.0:0.0	.	86;86	A8K330;Q8IWA0	.;WDR75_HUMAN	Y	86	ENSP00000314193:D86Y	ENSP00000314193:D86Y	D	+	1	0	WDR75	190023913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.379000	0.90146	2.661000	0.90470	0.655000	0.94253	GAC		0.284	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		20	57	1	0	7.92952e-12	1	8.53949e-12	20	57					T	190315668	G	T	190315668	3	4	469	1	0	0	0	0	1	0	0	0	17322	1174	41	5	266	5	WDR75	2	190315668	Missense_Mutation	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08	11833278	190315668	52883705	11	31678											
DCLK3	85443	broad.mit.edu	37	chr3	36779816	36779816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtgcctctcttccagagtgGcttccctggggggcttgcta	3	12	13	13	1	1	1	0	0	1	1	4	1	3	1	3	4	2	3	3	4	1	4			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr3:36779816G>A	ENST00000416516.2	-	2	825	c.335C>T	c.(334-336)gCc>gTc	p.A112V		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	112						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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						TTCCAGAGTGGCTTCCCTGGG	0.557																																						ENST00000416516.2																			0				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						c.(334-336)gCc>gTc		doublecortin-like kinase 3							123	125	125					3																	36779816		1877	4096	5973	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779816G>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.335C>T	3.37:g.36779816G>A	ENSP00000394484:p.Ala112Val						p.A112V	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN			2	825	-			112						Missense_Mutation	SNP	ENST00000416516.2	37	c.335C>T	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703191	0.30232	.	.	ENSG00000163673	ENST00000416516	T	0.70516	-0.49	4.7	4.7	0.59300	.	0.000000	0.32671	N	0.005786	T	0.57475	0.2056	L	0.36672	1.1	0.09310	N	1	B	0.34103	0.437	B	0.30029	0.11	T	0.58934	-0.7548	10	0.87932	D	0	.	9.5515	0.39313	0.0:0.1535:0.688:0.1585	.	112	Q9C098	DCLK3_HUMAN	V	112	ENSP00000394484:A112V	ENSP00000394484:A112V	A	-	2	0	DCLK3	36754820	0.015000	0.18098	0.033000	0.17914	0.408000	0.30992	1.685000	0.37659	2.339000	0.79563	0.655000	0.94253	GCC		0.557	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		24	136	0	0	0	1	0	24	136					A	36779816	G	A	36779816	3	1	469	1	0	0	0	0	1	0	0	0	4293	1203	42	3	1627	3	DCLK3	3	36779816	Missense_Mutation	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08		36779816	161242614	12	31679											
PTPN23	25930	broad.mit.edu	37	chr3	47437635	47437635	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttctctctctgtagttTgtcctgaagaattatggaga	8	17	9	7	0	3	3	0	1	3	2	6	4	4	3	1	1	0	3	1	1	4	5			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr3:47437635T>C	ENST00000265562.4	+	2	164	c.87T>C	c.(85-87)ttT>ttC	p.F29F	PTPN23_ENST00000431726.1_5'UTR	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	29	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			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)		CTCTGTAGTTTGTCCTGAAGA	0.478																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(85-87)ttT>ttC		protein tyrosine phosphatase, non-receptor type 23							127	126	127					3																	47437635		2203	4300	6503	SO:0001819	synonymous_variant	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47437635T>C	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.87T>C	3.37:g.47437635T>C						PTPN23_ENST00000431726.1_5'UTR	p.F29F	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	2	164	+			29			BRO1.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	c.87T>C	CCDS2754.1																																																																																				0.478	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		10	83	0	0	0	1	0	10	83					C	47437635	T	C	47437635	2	2	469	1	0	0	0	0	0	0	0	1	12788	1809	63	4		4	PTPN23	3	47437635	Silent	SNP	T	TCGA-YL-A9WI-01A-11D-A377-08	10657819	47437635	150584795	13	31680											
ZNF827	152485	broad.mit.edu	37	chr4	146700587	146700587	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacactttcccacacacGtcacagggaaaaagctggtc	14	6	7	14	1	1	0	1	0	0	0	3	1	2	1	2	2	2	1	2	2	3	1	rs565610282		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr4:146700587G>A	ENST00000508784.1	-	9	2687	c.2460C>T	c.(2458-2460)gaC>gaT	p.D820D	ZNF827_ENST00000379448.4_Silent_p.D820D|ZNF827_ENST00000513320.1_Silent_p.D470D			Q17R98	ZN827_HUMAN	zinc finger protein 827	820					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)					TCCCACACACGTCACAGGGAA	0.502																																						ENST00000508784.1																			0				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						c.(2458-2460)gaC>gaT		zinc finger protein 827							116	103	107					4																	146700587		2203	4300	6503	SO:0001819	synonymous_variant	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146700587G>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.2460C>T	4.37:g.146700587G>A						ZNF827_ENST00000379448.4_Silent_p.D820D|ZNF827_ENST00000513320.1_Silent_p.D470D	p.D820D			Q17R98	ZN827_HUMAN			9	2687	-	all_hematologic(180;0.151)		820					B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	ENST00000508784.1	37	c.2460C>T																																																																																					0.502	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		25	29	0	0	0	1	0	25	29					A	146700587	G	A	146700587	2	1	469	1	0	0	0	0	0	0	0	1	18177	1136	40	1		1	ZNF827	4	146700587	Silent	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08		146700587	44453689	14	31681											
APC	324	broad.mit.edu	37	chr5	112175225	112175231	+	Frame_Shift_Del	DEL	GGAACTA	GGAACTA	-																															cagaaataaaagaaaagattGgaactaggtcagctgaagat																								rs587779791		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr5:112175225_112175231delGGAACTA	ENST00000457016.1	+	16	4314_4320	c.3934_3940delGGAACTA	c.(3934-3942)ggaactaggfs	p.GTR1312fs	APC_ENST00000508376.2_Frame_Shift_Del_p.GTR1312fs|APC_ENST00000257430.4_Frame_Shift_Del_p.GTR1312fs|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1312	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		G -> E (in gastric cancer).		anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.G1312*(25)|p.G1312fs*9(2)|p.G1312E(1)|p.T1313fs*8(1)|p.?(1)|p.T1313A(1)|p.K1192fs*3(1)|p.G1312R(1)|p.G1312fs*4(1)|p.T1313fs*2(1)|p.G1312fs*1(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)		AGAAAAGATTGGAACTAGGTCAGCTGA	0.43		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)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		36	Substitution - Nonsense(25)|Deletion - Frameshift(6)|Substitution - Missense(3)|Unknown(1)|Insertion - Frameshift(1)	p.G1312*(25)|p.G1312fs*9(2)|p.G1312E(1)|p.T1313fs*8(1)|p.?(1)|p.T1313A(1)|p.K1192fs*3(1)|p.G1312R(1)|p.G1312fs*4(1)|p.T1313fs*2(1)|p.G1312fs*1(1)	large_intestine(32)|stomach(1)|lung(1)|soft_tissue(1)|skin(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						c.(3934-3942)ggfs		adenomatous polyposis coli																																				SO:0001589	frameshift_variant	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	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	g.chr5:112175225_112175231delGGAACTA	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3934_3940delGGAACTA	5.37:g.112175225_112175231delGGAACTA	ENSP00000413133:p.Gly1312fs	TSP Lung(16;0.13)				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.GTR1312fs|APC_ENST00000508376.2_Frame_Shift_Del_p.GTR1312fs	p.GTR1312fs			P25054	APC_HUMAN		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)	16	4314_4320	+		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)	1312		G -> E (in gastric cancer).	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	c.3934_3940delGGAACTA	CCDS4107.1																																																																																				0.43	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		14	9						14	9	---	---	---	---	-	112175231	GGAACTA	-	112175225	7	5	469	1	0	1	0	1	0	0	0	0	763	1349	47	0	3992	0	APC	5	112175225	Frame_Shift_Del	DEL	GGAACTA	TCGA-YL-A9WI-01A-11D-A377-08		112175225	68740035	15	31682											
GLP1R	2740	broad.mit.edu	37	chr6	39046951	39046951	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaactgaaggccaatctcAtgtgcaagacagacatcaaa	17	6	7	11	0	2	3	2	1	1	2	3	3	2	3	2	1	2	1	2	1	5	0			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr6:39046951A>C	ENST00000373256.4	+	10	1061	c.1018A>C	c.(1018-1020)Atg>Ctg	p.M340L		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	340					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	GGCCAATCTCATGTGCAAGAC	0.542																																						ENST00000373256.4																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31						c.(1018-1020)Atg>Ctg		glucagon-like peptide 1 receptor	Exenatide(DB01276)|Glucagon recombinant(DB00040)						124	122	122					6																	39046951		2203	4300	6503	SO:0001583	missense	2740				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	g.chr6:39046951A>C		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"GPCR / Class B : Glucagon receptors"	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.1018A>C	6.37:g.39046951A>C	ENSP00000362353:p.Met340Leu						p.M340L	NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN			10	1061	+			340					Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	c.1018A>C	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300946	0.60195	.	.	ENSG00000112164	ENST00000373256	T	0.32515	1.45	5.12	5.12	0.69794	GPCR, family 2-like (1);	0.063539	0.64402	D	0.000003	T	0.19366	0.0465	L	0.56280	1.765	0.41632	D	0.989027	B	0.17038	0.02	B	0.30716	0.119	T	0.06807	-1.0806	10	0.46703	T	0.11	.	11.577	0.50866	0.8508:0.1492:0.0:0.0	.	340	P43220	GLP1R_HUMAN	L	340	ENSP00000362353:M340L	ENSP00000362353:M340L	M	+	1	0	GLP1R	39154929	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.172000	0.77604	1.936000	0.56123	0.379000	0.24179	ATG		0.542	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			60	28	0	0	0	1	0	60	28					C	39046951	A	C	39046951	3	2	469	1	0	0	0	0	1	0	0	0	6452	217	8	5	1056	5	GLP1R	6	39046951	Missense_Mutation	SNP	A	TCGA-YL-A9WI-01A-11D-A377-08		39046951	132068116	16	31683											
ZNF318	24149	broad.mit.edu	37	chr6	43325471	43325471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgagagcactgggagcttCgagtgaagacagaatcatca	13	6	12	10	2	2	4	2	1	0	3	3	7	2	5	1	1	2	2	1	1	2	1	rs549275559		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr6:43325471C>T	ENST00000361428.2	-	3	658	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	ZNF318_ENST00000318149.3_Missense_Mutation_p.R194Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	194					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGGGAGCTTCGAGTGAAGAC	0.473													C|||	1	0.000199681	0	0.0014	5008	,	,		19952	0		0	False		,,,				2504	0					ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(580-582)cGa>cAa		zinc finger protein 318							106	111	110					6																	43325471		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43325471C>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.581G>A	6.37:g.43325471C>T	ENSP00000354964:p.Arg194Gln					ZNF318_ENST00000318149.3_Missense_Mutation_p.R194Q	p.R194Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		3	658	-			194					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.581G>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209266	0.79240	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.04119	3.7;3.7	5.09	3.15	0.36227	.	0.569440	0.16218	N	0.224161	T	0.02156	0.0067	N	0.24115	0.695	0.26299	N	0.978003	D	0.56035	0.974	P	0.47891	0.56	T	0.45745	-0.9240	10	0.59425	D	0.04	-1.1407	10.2582	0.43410	0.0:0.8226:0.0:0.1774	.	194	Q5VUA4	ZN318_HUMAN	Q	194	ENSP00000323032:R194Q;ENSP00000354964:R194Q	ENSP00000323032:R194Q	R	-	2	0	ZNF318	43433449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.301000	0.51842	1.370000	0.46153	0.555000	0.69702	CGA		0.473	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		40	92	0	0	0	1	0	40	92					T	43325471	C	T	43325471	3	4	469	1	0	0	0	0	1	0	0	0	17833	884	31	2	6290	2	ZNF318	6	43325471	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08	4278520	43325471	127789596	17	31684											
GLI3	2737	broad.mit.edu	37	chr7	42018254	42018254	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catatgcactaccaacatatActgggctttgaagggtttct	11	13	8	9	0	1	1	0	1	1	0	1	1	1	1	1	2	4	3	1	2	6	6			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr7:42018254A>G	ENST00000395925.3	-	11	1675	c.1591T>C	c.(1591-1593)Tat>Cat	p.Y531H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	531					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						ACCAACATATACTGGGCTTTG	0.502									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				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						c.(1591-1593)Tat>Cat		GLI family zinc finger 3							117	107	110					7																	42018254		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	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	g.chr7:42018254A>G		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1591T>C	7.37:g.42018254A>G	ENSP00000379258:p.Tyr531His					GLI3_ENST00000479210.1_5'UTR	p.Y531H	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			11	1675	-			531					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1591T>C	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838329	0.91117	.	.	ENSG00000106571	ENST00000395925	D	0.91180	-2.8	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96725	0.8931	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97774	1.0228	10	0.87932	D	0	.	16.2141	0.82191	1.0:0.0:0.0:0.0	.	531	P10071	GLI3_HUMAN	H	531	ENSP00000379258:Y531H	ENSP00000379258:Y531H	Y	-	1	0	GLI3	41984779	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.281000	0.95811	2.230000	0.72887	0.528000	0.53228	TAT		0.502	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		11	128	0	0	0	1	0	11	128					G	42018254	A	G	42018254	3	3	469	1	0	0	0	0	1	0	0	0	6439	391	14	4	3171	4	GLI3	7	42018254	Missense_Mutation	SNP	A	TCGA-YL-A9WI-01A-11D-A377-08		42018254	117120409	18	31685											
NRF1	4899	broad.mit.edu	37	chr7	129349051	129349051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtccggagtgatgtccGcacagaagagcaaaagcaga	16	5	12	8	2	0	4	0	1	0	3	2	5	2	5	2	1	2	3	2	1	4	0			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr7:129349051G>A	ENST00000393232.1	+	6	860	c.743G>A	c.(742-744)cGc>cAc	p.R248H	NRF1_ENST00000393231.3_Missense_Mutation_p.R248H|NRF1_ENST00000393230.2_Missense_Mutation_p.R248H|NRF1_ENST00000223190.4_Missense_Mutation_p.R248H|NRF1_ENST00000539636.1_Missense_Mutation_p.R87H|NRF1_ENST00000311967.2_Missense_Mutation_p.R248H|NRF1_ENST00000353868.4_Missense_Mutation_p.R248H	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	248					cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R248L(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						AGTGATGTCCGCACAGAAGAG	0.493																																						ENST00000393232.1																			1	Substitution - Missense(1)	p.R248L(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						c.(742-744)cGc>cAc		nuclear respiratory factor 1							122	124	124					7																	129349051		2203	4300	6503	SO:0001583	missense	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129349051G>A	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"alpha palindromic-binding protein"	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.743G>A	7.37:g.129349051G>A	ENSP00000376924:p.Arg248His					NRF1_ENST00000393230.2_Missense_Mutation_p.R248H|NRF1_ENST00000223190.4_Missense_Mutation_p.R248H|NRF1_ENST00000393231.3_Missense_Mutation_p.R248H|NRF1_ENST00000539636.1_Missense_Mutation_p.R87H|NRF1_ENST00000311967.2_Missense_Mutation_p.R248H|NRF1_ENST00000353868.4_Missense_Mutation_p.R248H	p.R248H	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN			6	860	+			248					A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	c.743G>A	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	35	5.582880	0.96578	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.85	5.85	0.93711	Nuclear respiratory factor 1, NLS/DNA-binding, dimerisation domain (1);	0.000000	0.85682	D	0.000000	D	0.94804	0.8322	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94125	0.7383	9	.	.	.	-9.5325	19.1648	0.93551	0.0:0.0:1.0:0.0	.	248;248	Q96AN2;Q16656	.;NRF1_HUMAN	H	248;248;87;248;248;248;248	ENSP00000376924:R248H;ENSP00000440455:R87H;ENSP00000223190:R248H;ENSP00000309826:R248H;ENSP00000376922:R248H;ENSP00000376923:R248H	.	R	+	2	0	NRF1	129136287	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.499000	0.97975	2.772000	0.95346	0.655000	0.94253	CGC		0.493	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		4	120	0	0	0	1	0	4	120					A	129349051	G	A	129349051	3	1	469	1	0	0	0	0	1	0	0	0	10646	1087	38	1	761	1	NRF1	7	129349051	Missense_Mutation	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08	87330797	129349051	29789612	19	31686											
TEX15	56154	broad.mit.edu	37	chr8	30699598	30699598	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgtctacagtgctcggTcgttttttagaggaatttga	8	17	10	6	2	1	2	0	1	1	1	3	3	1	3	0	2	2	2	0	2	3	6			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr8:30699598T>C	ENST00000256246.2	-	1	7010	c.6936A>G	c.(6934-6936)cgA>cgG	p.R2312R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2312					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					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)		CAGTGCTCGGTCGTTTTTTAG	0.343																																						ENST00000256246.2																			0				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						c.(6934-6936)cgA>cgG		testis expressed 15							110	105	107					8																	30699598		2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30699598T>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6936A>G	8.37:g.30699598T>C							p.R2312R	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	7010	-			2312						Silent	SNP	ENST00000256246.2	37	c.6936A>G	CCDS6080.1																																																																																				0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			28	105	0	0	0	1	0	28	105					C	30699598	T	C	30699598	2	2	469	1	0	0	0	0	0	0	0	1	15776	1654	58	4		4	TEX15	8	30699598	Silent	SNP	T	TCGA-YL-A9WI-01A-11D-A377-08		30699598	115664424	20	31687											
RANBP6	26953	broad.mit.edu	37	chr9	6015581	6015581	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgacacggtcgccggCacccctgcagacgcggttgc	5	9	12	15	5	1	2	0	1	1	1	2	2	1	2	3	3	2	3	3	3	0	3			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr9:6015581C>A	ENST00000259569.5	-	1	37	c.27G>T	c.(25-27)gtG>gtT	p.V9V	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	9					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CGGTCGCCGGCACCCCTGCAG	0.577																																						ENST00000259569.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(25-27)gtG>gtT		RAN binding protein 6							38	44	42					9																	6015581		2203	4299	6502	SO:0001819	synonymous_variant	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6015581C>A	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.27G>T	9.37:g.6015581C>A						RANBP6_ENST00000485372.1_5'UTR	p.V9V	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	37	-		Acute lymphoblastic leukemia(23;0.158)	9					Q5T7X4|Q7Z3V2|Q96E78	Silent	SNP	ENST00000259569.5	37	c.27G>T	CCDS6467.1																																																																																				0.577	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		19	34	1	0	0.000132079	1	0.00013448	19	34					A	6015581	C	A	6015581	2	1	469	1	0	0	0	0	0	0	0	1	13031	697	25	5		5	RANBP6	9	6015581	Silent	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08		6015581	135197850	21	31688											
MLLT3	4300	broad.mit.edu	37	chr9	20414316	20414316	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctactgctgctgctactgctGctgctgctgctgctgctgct	2	14	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	2	rs62640391		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr9:20414316G>A	ENST00000380338.4	-	5	814	c.528C>T	c.(526-528)agC>agT	p.S176S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S173S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	176	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				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)		tgctactgctgctgctgctgc	0.522			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"			L	MLL		ALL		0				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						c.(526-528)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							20	29	26					9																	20414316		2022	3890	5912	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414316G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.528C>T	9.37:g.20414316G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S173S	p.S176S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	814	-			176			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.528C>T	CCDS6494.1																																																																																				0.522	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	64	0	0	0	1	0	4	64					A	20414316	G	A	20414316	2	1	469	1	0	0	0	0	0	0	0	1	9628	1310	46	3		3	MLLT3	9	20414316	Silent	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08	14398735	20414316	120799115	22	31689											
PLAA	9373	broad.mit.edu	37	chr9	26923257	26923257	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttttagaatcaatggttgCgtgagacagttctttttcaa	11	16	9	5	1	3	2	2	1	1	2	3	3	3	2	0	1	1	3	0	1	4	6	rs376535885		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr9:26923257C>A	ENST00000397292.3	-	7	1375	c.958G>T	c.(958-960)Gca>Tca	p.A320S	PLAA_ENST00000520884.1_Missense_Mutation_p.A320S	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	320					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TCAATGGTTGCGTGAGACAGT	0.398																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(958-960)Gca>Tca		phospholipase A2-activating protein							189	170	177					9																	26923257		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26923257C>A	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"WD repeat domain containing"	9043	protein-coding gene	gene with protein product	"DOA1 homolog (S. cerevisiae)"	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.958G>T	9.37:g.26923257C>A	ENSP00000380460:p.Ala320Ser					PLAA_ENST00000520884.1_Missense_Mutation_p.A320S	p.A320S	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	7	1375	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	320					Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.958G>T	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	C	9.429	1.085037	0.20390	.	.	ENSG00000137055	ENST00000397292;ENST00000520884	T;T	0.54279	0.58;0.74	4.86	3.97	0.46021	.	0.059063	0.64402	D	0.000001	T	0.25382	0.0617	N	0.03324	-0.35	0.80722	D	1	B;B	0.22604	0.072;0.042	B;B	0.21151	0.033;0.01	T	0.20207	-1.0282	10	0.02654	T	1	-13.2559	13.6616	0.62370	0.0:0.9244:0.0:0.0756	.	320;320	E5RIM3;Q9Y263	.;PLAP_HUMAN	S	320	ENSP00000380460:A320S;ENSP00000429372:A320S	ENSP00000380460:A320S	A	-	1	0	PLAA	26913257	0.960000	0.32886	0.999000	0.59377	0.824000	0.46624	1.891000	0.39738	1.184000	0.42957	-0.119000	0.15052	GCA		0.398	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		21	93	1	0	3.51602e-12	1	3.86072e-12	21	93					A	26923257	C	A	26923257	3	1	469	1	0	0	0	0	1	0	0	0	12011	768	27	5	1461	5	PLAA	9	26923257	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08	6508941	26923257	114290174	23	31690											
SMC5	23137	broad.mit.edu	37	chr9	72933829	72933830	+	Frame_Shift_Del	DEL	AA	AA	-																															aagaaggagcttcttgagagAaaaaccaagaaaagacaact																										TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr9:72933829_72933830delAA	ENST00000361138.5	+	15	2158_2159	c.2100_2101delAA	c.(2098-2103)agaaaafs	p.K701fs		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	701					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTCTTGAGAGAAAAACCAAGAA	0.401																																						ENST00000361138.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						c.(2098-2103)agaafs		structural maintenance of chromosomes 5																																				SO:0001589	frameshift_variant	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72933829_72933830delAA	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"Structural maintenance of chromosomes proteins"	20465	protein-coding gene	gene with protein product		609386	"SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2100_2101delAA	9.37:g.72933831_72933832delAA	ENSP00000354957:p.Lys701fs						p.RK700fs	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN			15	2158_2159	+			700					A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Frame_Shift_Del	DEL	ENST00000361138.5	37	c.2100_2101delAA	CCDS6632.1																																																																																				0.401	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		26	35						26	35	---	---	---	---	-	72933830	AA	-	72933829	7	5	469	1	0	1	0	1	0	0	0	0	14786	243	9	0	2158	0	SMC5	9	72933829	Frame_Shift_Del	DEL	AA	TCGA-YL-A9WI-01A-11D-A377-08	46010572	72933829	68279602	24	31691											
ABCA1	19	broad.mit.edu	37	chr9	107564358	107564358	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagctttaggtgtttctTcatttgtttgatggcatcat	6	18	10	7	0	3	1	2	1	1	0	3	1	3	1	1	3	1	4	1	3	1	6	rs543919713		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr9:107564358T>C	ENST00000374736.3	-	34	5069	c.4675A>G	c.(4675-4677)Aag>Gag	p.K1559E		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1559					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			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)|Glyburide(DB01016)|Probucol(DB01599)	AGGTGTTTCTTCATTTGTTTG	0.423																																						ENST00000374736.3																			0				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						c.(4675-4677)Aag>Gag		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						163	149	154					9																	107564358		2203	4300	6503	SO:0001583	missense	19				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	g.chr9:107564358T>C	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4675A>G	9.37:g.107564358T>C	ENSP00000363868:p.Lys1559Glu						p.K1559E	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	34	5069	-			1559					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.4675A>G	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.862408	0.51482	.	.	ENSG00000165029	ENST00000374736	D	0.88509	-2.39	5.78	5.78	0.91487	.	0.044292	0.85682	D	0.000000	D	0.85159	0.5633	N	0.24115	0.695	0.80722	D	1	B	0.26120	0.142	B	0.36030	0.216	T	0.81920	-0.0712	10	0.37606	T	0.19	.	16.3979	0.83621	0.0:0.0:0.0:1.0	.	1559	O95477	ABCA1_HUMAN	E	1559	ENSP00000363868:K1559E	ENSP00000363868:K1559E	K	-	1	0	ABCA1	106604179	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	2.202000	0.42743	2.333000	0.79357	0.533000	0.62120	AAG		0.423	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		4	49	0	0	0	1	0	4	49					C	107564358	T	C	107564358	3	2	469	1	0	0	0	0	1	0	0	0	28	1792	62	4	2178	4	ABCA1	9	107564358	Missense_Mutation	SNP	T	TCGA-YL-A9WI-01A-11D-A377-08	34630529	107564358	33649073	25	31692											
TNNT3	7140	broad.mit.edu	37	chr11	1955174	1955174	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaggagaagcgccgtgCagagagagcggagcagcaga	12	2	18	9	3	0	4	0	0	0	4	0	7	0	5	1	2	6	5	1	2	1	0	rs377446757		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr11:1955174C>A	ENST00000397301.1	+	12	343	c.335C>A	c.(334-336)gCa>gAa	p.A112E	TNNT3_ENST00000381579.3_Missense_Mutation_p.A93E|TNNT3_ENST00000360603.3_Missense_Mutation_p.A95E|TNNT3_ENST00000381548.3_Missense_Mutation_p.A103E|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381558.1_Missense_Mutation_p.A93E|TNNT3_ENST00000397304.2_Missense_Mutation_p.A82E|TNNT3_ENST00000278317.6_Missense_Mutation_p.A101E|TNNT3_ENST00000381549.3_Missense_Mutation_p.A93E|TNNT3_ENST00000381589.3_Missense_Mutation_p.A99E|TNNT3_ENST00000446240.1_Missense_Mutation_p.A82E|TNNT3_ENST00000381561.4_Missense_Mutation_p.A104E			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	112					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			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)		AAGCGCCGTGCAGAGAGAGCG	0.652																																						ENST00000381558.1																			0				breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19						c.(277-279)gCa>gAa		troponin T type 3 (skeletal, fast)		C	GLU/ALA,GLU/ALA,GLU/ALA,GLU/ALA	1,4399		0,1,2199	40	41	41		278,296,278,302	3.2	0	11		41	0,8594		0,0,4297	no	missense,missense,missense,missense	TNNT3	NM_001042780.2,NM_001042781.2,NM_001042782.2,NM_006757.3	107,107,107,107	0,1,6496	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	93/251,99/257,93/251,101/259	1955174	1,12993	2200	4297	6497	SO:0001583	missense	7140				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	g.chr11:1955174C>A	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"troponin-T3, skeletal, fast"	600692	"troponin T3, skeletal, fast"			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.335C>A	11.37:g.1955174C>A	ENSP00000380468:p.Ala112Glu					TNNT3_ENST00000397304.2_Missense_Mutation_p.A82E|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381589.3_Missense_Mutation_p.A99E|TNNT3_ENST00000381579.3_Missense_Mutation_p.A93E|TNNT3_ENST00000381561.4_Missense_Mutation_p.A104E|TNNT3_ENST00000360603.3_Missense_Mutation_p.A95E|TNNT3_ENST00000381548.3_Missense_Mutation_p.A103E|TNNT3_ENST00000381549.3_Missense_Mutation_p.A93E|TNNT3_ENST00000397301.1_Missense_Mutation_p.A112E|TNNT3_ENST00000278317.6_Missense_Mutation_p.A101E|TNNT3_ENST00000446240.1_Missense_Mutation_p.A82E	p.A93E			P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	10	557	+		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)	112					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	37	c.278C>A		.	.	.	.	.	.	.	.	.	.	.	14.06	2.423115	0.43020	2.27E-4	0.0	ENSG00000130595	ENST00000278317;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000381557;ENST00000453458;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304;ENST00000446240	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03	4.14	3.21	0.36854	.	0.120985	0.53938	D	0.000041	D	0.92315	0.7562	L	0.35593	1.075	0.58432	D	0.999999	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.66979	0.948;0.931;0.948;0.948	D	0.90975	0.4823	10	0.36615	T	0.2	-12.1919	13.5414	0.61676	0.1573:0.8427:0.0:0.0	.	101;93;99;93	P45378-2;P45378-7;P45378-6;P45378-4	.;.;.;.	E	101;113;104;103;95;93;99;93;87;82;104;88;93;112;82;82	ENSP00000278317:A101E;ENSP00000370973:A104E;ENSP00000370960:A103E;ENSP00000353815:A95E;ENSP00000370961:A93E;ENSP00000371001:A99E;ENSP00000370991:A93E;ENSP00000370969:A87E;ENSP00000415614:A82E;ENSP00000370975:A104E;ENSP00000344870:A88E;ENSP00000370970:A93E;ENSP00000380468:A112E;ENSP00000380471:A82E;ENSP00000413203:A82E	ENSP00000278317:A101E	A	+	2	0	TNNT3	1911750	1.000000	0.71417	0.017000	0.16124	0.300000	0.27592	7.250000	0.78287	1.082000	0.41137	0.313000	0.20887	GCA		0.652	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		17	12	1	0	7.07596e-05	1	7.33803e-05	17	12					A	1955174	C	A	1955174	3	1	469	1	0	0	0	0	1	0	0	0	16329	710	25	5	381	5	TNNT3	11	1955174	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08		1955174	133051342	26	31693											
SBF2	81846	broad.mit.edu	37	chr11	9990086	9990086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaatgccatatgaggatttgGattctcctgtaatatcagac	12	13	9	7	0	2	2	1	1	1	1	3	5	2	4	2	2	1	1	2	2	4	5			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr11:9990086G>T	ENST00000256190.8	-	14	1539	c.1402C>A	c.(1402-1404)Cca>Aca	p.P468T		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	468					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TGAGGATTTGGATTCTCCTGT	0.448																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1402-1404)Cca>Aca		SET binding factor 2							123	120	121					11																	9990086		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9990086G>T	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.1402C>A	11.37:g.9990086G>T	ENSP00000256190:p.Pro468Thr						p.P468T	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	14	1539	-			468					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.1402C>A	CCDS31427.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.977304|3.977304	0.74360|0.74360	.|.	.|.	ENSG00000133812|ENSG00000133812	ENST00000256190|ENST00000420722	D|.	0.86297|.	-2.1|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.270908|.	0.36555|.	N|.	0.002539|.	T|T	0.76385|0.76385	0.3980|0.3980	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.76071|.	0.987|.	T|T	0.77256|0.77256	-0.2655|-0.2655	10|5	0.27785|.	T|.	0.31|.	.|.	18.2211|18.2211	0.89902|0.89902	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	468|.	Q86WG5|.	MTMRD_HUMAN|.	T|Y	468|74	ENSP00000256190:P468T|.	ENSP00000256190:P468T|.	P|S	-|-	1|2	0|0	SBF2|SBF2	9946662|9946662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	9.441000|9.441000	0.97557|0.97557	2.275000|2.275000	0.75901|0.75901	0.455000|0.455000	0.32223|0.32223	CCA|TCC		0.448	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		30	52	1	0	3.99451e-17	1	4.47385e-17	30	52					T	9990086	G	T	9990086	3	4	469	1	0	0	0	0	1	0	0	0	13859	1174	41	5	4255	5	SBF2	11	9990086	Missense_Mutation	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08	8034912	9990086	125016430	27	31694											
KCNA1	3736	broad.mit.edu	37	chr12	5020567	5020567	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacggtgatgtctggggagaAcgtggacgaggcttcggccg	7	7	19	8	5	1	2	0	1	1	1	2	6	1	3	1	6	1	1	1	6	1	1			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:5020567A>T	ENST00000382545.3	+	2	1130	c.23A>T	c.(22-24)aAc>aTc	p.N8I	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	8					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			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					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	TCTGGGGAGAACGTGGACGAG	0.731																																						ENST00000382545.3																			0				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						c.(22-24)aAc>aTc		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						15	18	17					12																	5020567		2176	4255	6431	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5020567A>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.23A>T	12.37:g.5020567A>T	ENSP00000371985:p.Asn8Ile					KCNA1_ENST00000543874.2_Intron	p.N8I	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	1130	+			8					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.23A>T	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	A	10.94	1.493049	0.26774	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.96265	-3.96	3.46	3.46	0.39613	.	0.046947	0.85682	D	0.000000	D	0.93109	0.7806	L	0.44542	1.39	0.53005	D	0.999967	B	0.10296	0.003	B	0.11329	0.006	D	0.90774	0.4674	10	0.48119	T	0.1	.	11.5802	0.50887	1.0:0.0:0.0:0.0	.	8	Q09470	KCNA1_HUMAN	I	8	ENSP00000371985:N8I	ENSP00000228858:N8I	N	+	2	0	KCNA1	4890828	0.185000	0.23213	0.916000	0.36221	0.991000	0.79684	1.487000	0.35540	1.588000	0.49971	0.454000	0.30748	AAC		0.731	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		8	18	0	0	0	1	0	8	18					T	5020567	A	T	5020567	3	4	469	1	0	0	0	0	1	0	0	0	8001	43	2	5	25	5	KCNA1	12	5020567	Missense_Mutation	SNP	A	TCGA-YL-A9WI-01A-11D-A377-08		5020567	128831328	28	31695											
RDH16	8608	broad.mit.edu	37	chr12	57346016	57346016	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacttctgctccatttgttCagctgatttcttatctgtta	6	19	6	10	0	4	1	1	1	3	0	5	1	5	1	1	0	2	5	1	0	2	6			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:57346016C>A	ENST00000398138.3	-	4	1607	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	251					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						TCCATTTGTTCAGCTGATTTC	0.478																																					GBM(179;741 2921 43105 45298)	ENST00000398138.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						c.(751-753)Gaa>Taa		retinol dehydrogenase 16 (all-trans)							68	76	74					12																	57346016		2082	4218	6300	SO:0001587	stop_gained	8608				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	g.chr12:57346016C>A		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	29674	protein-coding gene	gene with protein product	"microsomal NAD+ dependent retinol dehydrogenase 4", "short chain dehydrogenase/reductase family 9C, member 8"		"retinol dehydrogenase 16 (all-trans and 13-cis)"			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.751G>T	12.37:g.57346016C>A	ENSP00000381206:p.Glu251*					RDH16_ENST00000360752.4_5'UTR	p.E251*	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN			4	1607	-			251					Q9UNV2	Nonsense_Mutation	SNP	ENST00000398138.3	37	c.751G>T	CCDS41797.1	.	.	.	.	.	.	.	.	.	.	C	39	7.503923	0.98325	.	.	ENSG00000139547	ENST00000398138	.	.	.	4.56	-6.4	0.01944	.	1.581060	0.04261	N	0.340424	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	2.1727	0.03854	0.1126:0.3072:0.3278:0.2523	.	.	.	.	X	251	.	ENSP00000353980:E127X	E	-	1	0	RDH16	55632283	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.729000	0.00381	-1.515000	0.01784	-0.310000	0.09108	GAA		0.478	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708		8	8	1	0	0.000274275	1	0.000274275	8	8					A	57346016	C	A	57346016	4	1	469	1	0	0	0	0	0	1	0	0	13194	835	29	5	206	5	RDH16	12	57346016	Nonsense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08	52325449	57346016	76505879	29	31696											
PIP4K2C	79837	broad.mit.edu	37	chr12	57994722	57994722	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggtggatggggactgcagCctgactggacctcctgctct	6	9	15	11	0	1	1	0	1	1	0	2	5	2	4	3	5	3	2	3	5	0	0			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:57994722C>T	ENST00000354947.5	+	8	958	c.942C>T	c.(940-942)agC>agT	p.S314S	PIP4K2C_ENST00000540759.2_Silent_p.S314S|PIP4K2C_ENST00000422156.3_Silent_p.S266S|PIP4K2C_ENST00000550465.1_Silent_p.S296S			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	314	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GGGACTGCAGCCTGACTGGAC	0.617																																						ENST00000354947.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(940-942)agC>agT		phosphatidylinositol-5-phosphate 4-kinase, type II, gamma							118	122	121					12																	57994722		2203	4300	6503	SO:0001819	synonymous_variant	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57994722C>T	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.942C>T	12.37:g.57994722C>T						PIP4K2C_ENST00000422156.3_Silent_p.S266S|PIP4K2C_ENST00000550465.1_Silent_p.S296S|PIP4K2C_ENST00000540759.2_Silent_p.S314S	p.S314S			Q8TBX8	PI42C_HUMAN			8	958	+	Melanoma(17;0.122)		314			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Silent	SNP	ENST00000354947.5	37	c.942C>T	CCDS8946.1	.	.	.	.	.	.	.	.	.	.	C	6.049	0.377438	0.11466	.	.	ENSG00000166908	ENST00000548264	.	.	.	4.38	0.388	0.16264	.	.	.	.	.	T	0.43722	0.1260	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.24404	-1.0161	4	.	.	.	-0.1693	3.041	0.06138	0.1883:0.4229:0.0:0.3888	.	.	.	.	V	122	.	.	A	+	2	0	PIP4K2C	56280989	0.000000	0.05858	0.979000	0.43373	0.816000	0.46133	-0.469000	0.06648	0.193000	0.20303	-0.439000	0.05793	GCC		0.617	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		29	52	0	0	0	1	0	29	52					T	57994722	C	T	57994722	2	4	469	1	0	0	0	0	0	0	0	1	11938	738	26	3		3	PIP4K2C	12	57994722	Silent	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08	648706	57994722	75857173	30	31697											
METAP2	10988	broad.mit.edu	37	chr12	95868032	95868032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccagacgacagggaagaagGagctgcctctacggctgagg	11	5	15	10	2	1	3	0	1	1	2	2	6	2	5	2	4	3	2	2	4	3	1			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:95868032G>A	ENST00000323666.5	+	1	306	c.77G>A	c.(76-78)gGa>gAa	p.G26E	METAP2_ENST00000546753.1_Missense_Mutation_p.G26E|METAP2_ENST00000261220.9_Missense_Mutation_p.G26E|METAP2_ENST00000550777.1_Missense_Mutation_p.G26E|METAP2_ENST00000551840.1_Missense_Mutation_p.G26E	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						AGGGAAGAAGGAGCTGCCTCT	0.557																																						ENST00000323666.5																			0				endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						c.(76-78)gGa>gAa		methionyl aminopeptidase 2	L-Methionine(DB00134)						61	74	70					12																	95868032		2203	4300	6503	SO:0001583	missense	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95868032G>A	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"Peptidase M"	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.77G>A	12.37:g.95868032G>A	ENSP00000325312:p.Gly26Glu					METAP2_ENST00000551840.1_Missense_Mutation_p.G26E|METAP2_ENST00000261220.9_Missense_Mutation_p.G26E|METAP2_ENST00000550777.1_Missense_Mutation_p.G26E|METAP2_ENST00000546753.1_Missense_Mutation_p.G26E	p.G26E	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN			1	306	+			26						Missense_Mutation	SNP	ENST00000323666.5	37	c.77G>A	CCDS9052.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827880	0.50845	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000549502;ENST00000553151;ENST00000550777;ENST00000551840	.	.	.	5.06	1.99	0.26369	.	0.393532	0.25109	N	0.033069	T	0.28200	0.0696	N	0.08118	0	0.27686	N	0.946278	B;P;P;D;P	0.89917	0.028;0.722;0.846;1.0;0.761	B;B;B;D;B	0.87578	0.021;0.052;0.446;0.998;0.26	T	0.20940	-1.0260	9	0.07990	T	0.79	-10.4836	5.2	0.15258	0.188:0.1688:0.6432:0.0	.	26;26;26;26;26	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	E	26	.	ENSP00000261220:G26E	G	+	2	0	METAP2	94392163	1.000000	0.71417	0.998000	0.56505	0.548000	0.35241	0.735000	0.26115	0.631000	0.30412	0.462000	0.41574	GGA		0.557	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838		15	25	0	0	0	1	0	15	25					A	95868032	G	A	95868032	3	1	469	1	0	0	0	0	1	0	0	0	9487	1174	41	3	79	3	METAP2	12	95868032	Missense_Mutation	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08	37873310	95868032	37983863	31	31698											
SART3	9733	broad.mit.edu	37	chr12	108939019	108939019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagagagccctttcaaacaCggagcgaactttctcaaggc	12	7	10	12	3	2	1	2	0	1	1	3	5	2	2	1	2	4	0	1	2	3	2			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:108939019C>T	ENST00000228284.3	-	4	859	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	SART3_ENST00000552221.1_5'Flank|SART3_ENST00000431469.2_Missense_Mutation_p.V209M	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	209					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTTTCAAACACGGAGCGAACT	0.478									Porokeratosis																													ENST00000228284.3																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						c.(625-627)Gtg>Atg		squamous cell carcinoma antigen recognized by T cells 3							142	124	130					12																	108939019		2203	4300	6503	SO:0001583	missense	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108939019C>T	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.625G>A	12.37:g.108939019C>T	ENSP00000228284:p.Val209Met					SART3_ENST00000431469.2_Missense_Mutation_p.V209M	p.V209M	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN			4	859	-			209					A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	c.625G>A	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584614	0.86748	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000412617;ENST00000546815;ENST00000550322;ENST00000550619	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	6.07	5.08	0.68730	.	0.050761	0.85682	D	0.000000	T	0.39253	0.1071	N	0.22421	0.69	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.998;0.995	D;P;P;P	0.66351	0.943;0.895;0.748;0.748	T	0.17653	-1.0362	10	0.54805	T	0.06	-38.5815	7.086	0.25257	0.0:0.7725:0.0:0.2275	.	157;209;209;209	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	M	209;209;157;209;77;77	ENSP00000228284:V209M;ENSP00000414453:V209M;ENSP00000449386:V209M;ENSP00000447324:V77M;ENSP00000449602:V77M	ENSP00000228284:V209M	V	-	1	0	SART3	107463149	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.169000	0.50809	2.884000	0.98904	0.655000	0.94253	GTG		0.478	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			27	29	0	0	0	1	0	27	29					T	108939019	C	T	108939019	3	4	469	1	0	0	0	0	1	0	0	0	13847	536	19	1	2330	1	SART3	12	108939019	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08	13070987	108939019	24912876	32	31699											
LRRC43	254050	broad.mit.edu	37	chr12	122669143	122669143	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggatgtggtgagcccCggagaggagacggtggaggc	9	4	22	6	2	0	3	0	1	0	2	0	9	0	6	2	8	1	0	2	8	0	0			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:122669143C>T	ENST00000339777.4	+	2	256	c.228C>T	c.(226-228)ccC>ccT	p.P76P	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	76										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)		TGGTGAGCCCCGGAGAGGAGA	0.597																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(226-228)ccC>ccT		leucine rich repeat containing 43							45	46	45					12																	122669143		1915	4125	6040	SO:0001819	synonymous_variant	254050							g.chr12:122669143C>T	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.228C>T	12.37:g.122669143C>T						LRRC43_ENST00000425921.1_5'UTR	p.P76P	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	2	256	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		76					Q6ZVT9	Silent	SNP	ENST00000339777.4	37	c.228C>T	CCDS45001.1																																																																																				0.597	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		8	19	0	0	0	1	0	8	19					T	122669143	C	T	122669143	2	4	469	1	0	0	0	0	0	0	0	1	9001	639	23	2		2	LRRC43	12	122669143	Silent	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08	13730124	122669143	11182752	33	31700											
MTUS2	23281	broad.mit.edu	37	chr13	29608202	29608202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagaggtcttcagcgagcGccatccacccaccaggaccc	9	5	10	17	2	3	1	2	0	1	1	4	3	4	2	5	2	2	0	5	2	0	1	rs556525596		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr13:29608202G>A	ENST00000431530.3	+	2	2474	c.2416G>A	c.(2416-2418)Gcc>Acc	p.A806T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	796	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTCAGCGAGCGCCATCCACCC	0.522													G|||	1	0.000199681	0	0	5008	,	,		18549	0		0	False		,,,				2504	0.001					ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(2416-2418)Gcc>Acc		microtubule associated tumor suppressor candidate 2							100	103	102					13																	29608202		2120	4236	6356	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29608202G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2416G>A	13.37:g.29608202G>A	ENSP00000392057:p.Ala806Thr						p.A806T	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			2	2474	+			796			Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2416G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320543	0.41096	.	.	ENSG00000132938	ENST00000431530	T	0.12465	2.68	5.46	3.51	0.40186	.	0.464445	0.18607	N	0.136279	T	0.15305	0.0369	L	0.41236	1.265	0.80722	D	1	D	0.55605	0.972	P	0.47626	0.552	T	0.03384	-1.1042	9	.	.	.	.	11.4938	0.50396	0.0:0.0:0.4472:0.5528	.	796	Q5JR59	MTUS2_HUMAN	T	806	ENSP00000392057:A806T	.	A	+	1	0	MTUS2	28506202	0.970000	0.33590	0.853000	0.33588	0.969000	0.65631	1.696000	0.37773	1.262000	0.44165	0.655000	0.94253	GCC		0.522	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		15	26	0	0	0	1	0	15	26					A	29608202	G	A	29608202	3	1	469	1	0	0	0	0	1	0	0	0	9966	1087	38	1	2422	1	MTUS2	13	29608202	Missense_Mutation	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08		29608202	85561676	34	31701											
MIPOL1	145282	broad.mit.edu	37	chr14	37736347	37736347	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttatccagatgatgagtCtgtttactgcactactgaaa	11	15	7	8	0	2	4	0	3	2	1	3	4	3	4	1	0	3	2	1	0	4	5	rs375523919		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr14:37736347C>G	ENST00000327441.7	+	5	690	c.224C>G	c.(223-225)tCt>tGt	p.S75C	MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000537471.1_Missense_Mutation_p.S75C|MIPOL1_ENST00000396294.2_Missense_Mutation_p.S75C|MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000539062.2_Missense_Mutation_p.S44C|MIPOL1_ENST00000545536.1_Missense_Mutation_p.S44C|MIPOL1_ENST00000556451.1_Missense_Mutation_p.S44C	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	75						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GATGATGAGTCTGTTTACTGC	0.423																																						ENST00000327441.7																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(223-225)tCt>tGt		mirror-image polydactyly 1							80	75	77					14																	37736347		2203	4300	6503	SO:0001583	missense	145282							g.chr14:37736347C>G	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.224C>G	14.37:g.37736347C>G	ENSP00000333539:p.Ser75Cys					MIPOL1_ENST00000396294.2_Missense_Mutation_p.S75C|MIPOL1_ENST00000545536.1_Missense_Mutation_p.S44C|MIPOL1_ENST00000537471.1_Missense_Mutation_p.S75C|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000539062.2_Missense_Mutation_p.S44C|MIPOL1_ENST00000556451.1_Missense_Mutation_p.S44C	p.S75C	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	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)	5	690	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		75					D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	c.224C>G	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476964	0.26511	.	.	ENSG00000151338	ENST00000556615;ENST00000327441;ENST00000539062;ENST00000556451;ENST00000556753;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.47869	0.86;0.86;0.83;0.86;0.86;0.83	5.19	1.25	0.21368	.	1.280610	0.05234	N	0.510974	T	0.36580	0.0972	L	0.29908	0.895	0.09310	N	1	P;P	0.45827	0.785;0.867	B;B	0.41946	0.371;0.35	T	0.26121	-1.0112	10	0.72032	D	0.01	1.2426	4.2501	0.10691	0.1579:0.5836:0.0:0.2585	.	75;44	Q8TD10;Q49AL5	MIPO1_HUMAN;.	C	75;75;44;44;75;75;75;44	ENSP00000333539:S75C;ENSP00000438319:S44C;ENSP00000450479:S44C;ENSP00000379589:S75C;ENSP00000444254:S75C;ENSP00000442529:S44C	ENSP00000333539:S75C	S	+	2	0	MIPOL1	36806098	0.009000	0.17119	0.000000	0.03702	0.001000	0.01503	0.635000	0.24629	0.051000	0.15978	-0.150000	0.13652	TCT		0.423	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		14	16	0	0	0	1	0	14	16					G	37736347	C	G	37736347	3	3	469	1	0	0	0	0	1	0	0	0	9593	913	32	5	230	5	MIPOL1	14	37736347	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08		37736347	69613193	35	31702											
FOXA1	3169	broad.mit.edu	37	chr14	38061313	38061313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccaccttgacgaagcagtCattgaaggacagcgagtggc	11	7	13	10	2	1	2	1	2	0	0	1	5	1	3	2	2	3	1	2	2	2	2			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr14:38061313C>T	ENST00000250448.2	-	2	737	c.676G>A	c.(676-678)Gac>Aac	p.D226N	FOXA1_ENST00000540786.1_Missense_Mutation_p.D193N|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	226					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D226N(2)|p.D226Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ACGAAGCAGTCATTGAAGGAC	0.607																																						ENST00000250448.2																			3	Substitution - Missense(3)	p.D226N(2)|p.D226Y(1)	prostate(3)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(676-678)Gac>Aac		forkhead box A1							49	48	49					14																	38061313		2203	4300	6503	SO:0001583	missense	3169				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	g.chr14:38061313C>T	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.676G>A	14.37:g.38061313C>T	ENSP00000250448:p.Asp226Asn					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.D193N	p.D226N	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	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)	2	737	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		226					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.676G>A	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067571	0.93898	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95622	-3.76;-3.76	4.0	4.0	0.46444	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.97151	0.9069	M	0.81179	2.53	0.80722	D	1	D	0.57257	0.979	P	0.61658	0.892	D	0.97871	1.0286	10	0.87932	D	0	.	15.0053	0.71507	0.0:1.0:0.0:0.0	.	226	P55317	FOXA1_HUMAN	N	226;193	ENSP00000250448:D226N;ENSP00000440178:D193N	ENSP00000250448:D226N	D	-	1	0	FOXA1	37131064	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.547000	0.82146	2.057000	0.61298	0.400000	0.26472	GAC		0.607	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			16	18	0	0	0	1	0	16	18					T	38061313	C	T	38061313	3	4	469	1	0	0	0	0	1	0	0	0	5989	826	29	3	746	3	FOXA1	14	38061313	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08	324966	38061313	69288227	36	31703											
CRAMP1L	57585	broad.mit.edu	37	chr16	1706605	1706605	+	Frame_Shift_Del	DEL	C	C	-																															ccttgctcccactggcccatCcccgaggcccggccccgggc																										TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr16:1706605delC	ENST00000397412.3	+	10	1946	c.1847delC	c.(1846-1848)tccfs	p.S616fs	CRAMP1L_ENST00000262317.4_Intron|CRAMP1L_ENST00000436138.3_Frame_Shift_Del_p.S613fs|CRAMP1L_ENST00000293925.5_Frame_Shift_Del_p.S616fs|LA16c-431H6.6_ENST00000454337.1_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	616						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						ACTGGCCCATCCCCGAGGCCC	0.706																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(1846-1848)tcfs		Crm, cramped-like (Drosophila)							4	5	5					16																	1706605		1794	3953	5747	SO:0001589	frameshift_variant	57585					nucleus	DNA binding	g.chr16:1706605delC	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.1847delC	16.37:g.1706605delC	ENSP00000380559:p.Ser616fs					CRAMP1L_ENST00000262317.4_Intron|CRAMP1L_ENST00000436138.3_Frame_Shift_Del_p.S613fs|CRAMP1L_ENST00000293925.5_Frame_Shift_Del_p.S616fs|LA16c-431H6.6_ENST00000454337.1_Intron	p.S616fs			Q96RY5	CRML_HUMAN			10	1946	+			616					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Frame_Shift_Del	DEL	ENST00000397412.3	37	c.1847delC	CCDS10440.2																																																																																				0.706	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			2	4						2	4	---	---	---	---	-	1706605	C	-	1706605	7	5	469	1	0	1	0	1	0	0	0	0	3846	855	30	0	1881	0	CRAMP1L	16	1706605	Frame_Shift_Del	DEL	C	TCGA-YL-A9WI-01A-11D-A377-08		1706605	88648148	37	31704											
TSC2	7249	broad.mit.edu	37	chr16	2136230	2136230	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctgtccaatgagcatGgctcctacaggtacacggag	10	8	10	13	1	0	1	0	1	0	0	3	2	3	2	4	3	3	3	4	3	3	2			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr16:2136230G>C	ENST00000219476.3	+	37	5329	c.4699G>C	c.(4699-4701)Ggc>Cgc	p.G1567R	TSC2_ENST00000350773.4_Missense_Mutation_p.G1544R|TSC2_ENST00000568454.1_Missense_Mutation_p.G1511R|TSC2_ENST00000401874.2_Missense_Mutation_p.G1500R|TSC2_ENST00000382538.6_Missense_Mutation_p.G1452R|TSC2_ENST00000439673.2_Missense_Mutation_p.G1464R|TSC2_ENST00000353929.4_Missense_Mutation_p.G1524R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1567	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			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)				CAATGAGCATGGCTCCTACAG	0.667			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				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						c.(4699-4701)Ggc>Cgc		tuberous sclerosis 2							82	71	75					16																	2136230		2198	4298	6496	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	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	g.chr16:2136230G>C	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4699G>C	16.37:g.2136230G>C	ENSP00000219476:p.Gly1567Arg					TSC2_ENST00000350773.4_Missense_Mutation_p.G1544R|TSC2_ENST00000382538.6_Missense_Mutation_p.G1452R|TSC2_ENST00000439673.2_Missense_Mutation_p.G1464R|TSC2_ENST00000568454.1_Missense_Mutation_p.G1511R|TSC2_ENST00000401874.2_Missense_Mutation_p.G1500R|TSC2_ENST00000353929.4_Missense_Mutation_p.G1524R	p.G1567R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			37	5329	+		Hepatocellular(780;0.0202)	1567			Rap-GAP.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.4699G>C	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527722	0.85706	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75;-3.75	4.47	4.47	0.54385	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.98150	0.9389	M	0.91872	3.25	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99437	1.0937	10	0.87932	D	0	-36.8958	17.3319	0.87267	0.0:0.0:1.0:0.0	.	1452;1464;1544;342;1523;1500;1567	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	R	1567;1501;1524;1464;1452;1544	ENSP00000219476:G1567R;ENSP00000248099:G1524R;ENSP00000399232:G1464R;ENSP00000371978:G1452R;ENSP00000344383:G1544R	ENSP00000219476:G1567R	G	+	1	0	TSC2	2076231	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	7.736000	0.84948	2.319000	0.78375	0.561000	0.74099	GGC		0.667	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		16	17	0	0	0	1	0	16	17					C	2136230	G	C	2136230	3	2	469	1	0	0	0	0	1	0	0	0	16603	1348	47	5	4841	5	TSC2	16	2136230	Missense_Mutation	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08	429625	2136230	88218523	38	31705											
CETP	1071	broad.mit.edu	37	chr16	57003576	57003576	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactctgccattgacctccAgatcaacacacagctgagta	12	8	7	14	1	2	3	1	2	1	1	3	4	3	3	3	0	3	2	3	0	2	2			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr16:57003576A>T	ENST00000566128.1	+	4	494	c.227A>T	c.(226-228)cAg>cTg	p.Q76L	CETP_ENST00000569082.1_3'UTR|CETP_ENST00000200676.3_Missense_Mutation_p.Q141L|CETP_ENST00000379780.2_Missense_Mutation_p.Q141L					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						ATTGACCTCCAGATCAACACA	0.577																																						ENST00000200676.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.(421-423)cAg>cTg		cholesteryl ester transfer protein, plasma							130	107	115					16																	57003576		2198	4300	6498	SO:0001583	missense	1071				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	g.chr16:57003576A>T	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"BPI fold containing"	1869	protein-coding gene	gene with protein product	"BPI fold containing family F"	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.227A>T	16.37:g.57003576A>T	ENSP00000456276:p.Gln76Leu					CETP_ENST00000379780.2_Missense_Mutation_p.Q141L|CETP_ENST00000569082.1_3'UTR|CETP_ENST00000566128.1_Missense_Mutation_p.Q76L	p.Q141L	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN			4	552	+			141						Missense_Mutation	SNP	ENST00000566128.1	37	c.422A>T		.	.	.	.	.	.	.	.	.	.	A	10.71	1.426674	0.25726	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.05925	3.37;3.37	4.07	4.07	0.47477	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.418236	0.24240	U	0.040276	T	0.05731	0.0150	L	0.29908	0.895	0.27333	N	0.956712	B;B	0.33238	0.403;0.374	B;B	0.34242	0.075;0.178	T	0.29150	-1.0021	10	0.34782	T	0.22	-7.7388	10.4205	0.44348	1.0:0.0:0.0:0.0	.	141;141	P11597-2;P11597	.;CETP_HUMAN	L	141	ENSP00000200676:Q141L;ENSP00000369106:Q141L	ENSP00000200676:Q141L	Q	+	2	0	CETP	55561077	1.000000	0.71417	0.461000	0.27105	0.437000	0.31866	3.943000	0.56621	1.481000	0.48307	0.533000	0.62120	CAG		0.577	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		17	42	0	0	0	1	0	17	42					T	57003576	A	T	57003576	3	4	469	1	0	0	0	0	1	0	0	0	3277	188	7	5	436	5	CETP	16	57003576	Missense_Mutation	SNP	A	TCGA-YL-A9WI-01A-11D-A377-08	54867346	57003576	33351177	39	31706											
TOP3A	7156	broad.mit.edu	37	chr17	18181563	18181563	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggggccccctgaaaaTctcaggtccaggatctccct	7	8	12	14	0	2	1	1	1	2	0	5	2	3	2	4	5	0	0	4	5	2	0			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr17:18181563T>A	ENST00000321105.5	-	18	2467	c.2253A>T	c.(2251-2253)agA>agT	p.R751S	TOP3A_ENST00000542570.1_Missense_Mutation_p.R656S|TOP3A_ENST00000540524.1_Missense_Mutation_p.R281S	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	751					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CCCCTGAAAATCTCAGGTCCA	0.622																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(2251-2253)agA>agT		topoisomerase (DNA) III alpha							33	39	37					17																	18181563		2202	4299	6501	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18181563T>A	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2253A>T	17.37:g.18181563T>A	ENSP00000321636:p.Arg751Ser					TOP3A_ENST00000540524.1_Missense_Mutation_p.R281S|TOP3A_ENST00000542570.1_Missense_Mutation_p.R656S	p.R751S	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			18	2467	-			751					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.2253A>T	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	T	9.424	1.083802	0.20309	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.11277	3.16;2.79;3.16	5.72	-0.366	0.12545	.	0.091183	0.64402	D	0.000001	T	0.07503	0.0189	L	0.39898	1.24	0.34285	D	0.682544	B;B	0.24092	0.097;0.042	B;B	0.26094	0.066;0.028	T	0.37384	-0.9708	10	0.17369	T	0.5	-15.3437	7.2946	0.26385	0.0:0.2725:0.1232:0.6043	.	656;751	B4DK80;Q13472	.;TOP3A_HUMAN	S	751;281;656	ENSP00000321636:R751S;ENSP00000446425:R281S;ENSP00000442336:R656S	ENSP00000321636:R751S	R	-	3	2	TOP3A	18122288	0.402000	0.25311	0.144000	0.22314	0.330000	0.28571	-0.009000	0.12765	-0.306000	0.08818	0.448000	0.29417	AGA		0.622	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			21	30	0	0	0	1	0	21	30					A	18181563	T	A	18181563	3	1	469	1	0	0	0	0	1	0	0	0	16364	1432	50	5	760	5	TOP3A	17	18181563	Missense_Mutation	SNP	T	TCGA-YL-A9WI-01A-11D-A377-08		18181563	63013647	40	31707											
SGCA	6442	broad.mit.edu	37	chr17	48245736	48245736	+	Splice_Site	DEL	C	C	-																															gtccacctggccttcccaggCcccctgctgccataccaagc																										TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr17:48245736delC	ENST00000262018.3	+	5	423	c.387delC	c.(385-387)ggc>gg	p.G129fs	SGCA_ENST00000344627.6_Splice_Site_p.G129fs|SGCA_ENST00000543315.1_Splice_Site_p.G129fs|SGCA_ENST00000451235.2_Splice_Site_p.G27fs|SGCA_ENST00000513942.1_3'UTR	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	129					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CCTTCCCAGGCCCCCTGCTGC	0.667																																						ENST00000262018.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						c.e5-1		sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)							12	10	11					17																	48245736		2196	4279	6475	SO:0001630	splice_region_variant	6442				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr17:48245736delC	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"50kD DAG", "Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)", "adhalin (limb girdle muscular dystrophy 2D)"	600119	"sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.386-1C>-	17.37:g.48245736delC						SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000543315.1_Splice_Site_p.G129_splice|SGCA_ENST00000451235.2_Splice_Site_p.G27_splice|SGCA_ENST00000344627.6_Splice_Site_p.G129_splice	p.G129_splice	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN			5	423	+			129					A6NEB8|A8K3K7|Q13710|Q13712	Splice_Site	DEL	ENST00000262018.3	37	c.385_splice	CCDS32679.1																																																																																				0.667	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023	Frame_Shift_Del	2	4						2	4	---	---	---	---	-	48245736	C	-	48245736	8	5	469	1	0	1	0	1	0	0	1	0	14199	753	26	0	405	0	SGCA	17	48245736	Splice_Site	DEL	C	TCGA-YL-A9WI-01A-11D-A377-08	30064173	48245736	32949474	41	31708											
ABCA7	10347	broad.mit.edu	37	chr19	1050920	1050920	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagacccctctatccacagGtccatcttgagtggcctctt	7	12	8	14	0	3	2	0	2	3	1	5	3	5	2	5	2	0	0	5	2	1	3			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:1050920G>C	ENST00000263094.6	+	19	2784	c.2553G>C	c.(2551-2553)ctG>ctC	p.L851L	ABCA7_ENST00000433129.1_Splice_Site_p.L851L|ABCA7_ENST00000435683.2_Splice_Site_p.L713L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	851	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			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)		CTATCCACAGGTCCATCTTGA	0.527																																						ENST00000263094.6																			0				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						c.e19-1		ATP-binding cassette, sub-family A (ABC1), member 7							70	72	71					19																	1050920		2200	4286	6486	SO:0001630	splice_region_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1050920G>C	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2553-1G>C	19.37:g.1050920G>C						ABCA7_ENST00000433129.1_Splice_Site_p.L851_splice|ABCA7_ENST00000435683.2_Splice_Site_p.L713_splice	p.L851_splice	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	19	2784	+		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)	851			ABC transporter 1.		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Splice_Site	SNP	ENST00000263094.6	37	c.2552_splice	CCDS12055.1																																																																																				0.527	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	Silent	9	72	0	0	0	1	0	9	72					C	1050920	G	C	1050920	5	2	469	1	0	0	0	0	0	0	1	0	37	1275	44	5	2623	5	ABCA7	19	1050920	Splice_Site	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08		1050920	58078063	42	31709											
NCAN	1463	broad.mit.edu	37	chr19	19335210	19335210	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgcaacccacaggaactctAcgatgtgtattgctttgccc	9	10	9	13	2	1	0	0	0	1	0	1	2	1	1	2	1	5	3	2	1	4	4			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:19335210A>G	ENST00000252575.6	+	5	845	c.746A>G	c.(745-747)tAc>tGc	p.Y249C	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	249	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			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)		Hyaluronan(DB08818)	CAGGAACTCTACGATGTGTAT	0.587																																						ENST00000252575.5																			0				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						c.(745-747)tAc>tGc		neurocan							107	104	105					19																	19335210		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19335210A>G	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.746A>G	19.37:g.19335210A>G	ENSP00000252575:p.Tyr249Cys						p.Y249C	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		5	789	+			249			Link 1.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.746A>G	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883638	0.72410	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.14893	2.47	4.83	4.83	0.62350	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.30791	N	0.008867	T	0.53674	0.1811	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.68330	-0.5437	10	0.87932	D	0	.	12.3637	0.55217	1.0:0.0:0.0:0.0	.	249	O14594	NCAN_HUMAN	C	263;249	ENSP00000252575:Y249C	ENSP00000252575:Y249C	Y	+	2	0	NCAN	19196210	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.389000	0.59639	1.817000	0.53016	0.459000	0.35465	TAC		0.587	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		21	25	0	0	0	1	0	21	25					G	19335210	A	G	19335210	3	3	469	1	0	0	0	0	1	0	0	0	10204	391	14	4	760	4	NCAN	19	19335210	Missense_Mutation	SNP	A	TCGA-YL-A9WI-01A-11D-A377-08	18284290	19335210	39793773	43	31710											
ZNF146	7705	broad.mit.edu	37	chr19	36727583	36727583	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaatgaatgtggaaaatcaTttagccagaaggaaaacctc	17	9	9	6	0	1	2	1	1	0	1	2	4	1	4	2	2	2	1	2	2	8	3			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:36727583T>C	ENST00000443387.2	+	4	1233	c.241T>C	c.(241-243)Ttt>Ctt	p.F81L	ZNF146_ENST00000456324.1_Missense_Mutation_p.F81L|ZNF565_ENST00000355114.5_Intron	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	81					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TGGAAAATCATTTAGCCAGAA	0.398																																						ENST00000456324.1																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(241-243)Ttt>Ctt		zinc finger protein 146							82	87	85					19																	36727583		2203	4300	6503	SO:0001583	missense	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36727583T>C	X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"Zinc fingers, C2H2-type"	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.241T>C	19.37:g.36727583T>C	ENSP00000392095:p.Phe81Leu					ZNF146_ENST00000443387.2_Missense_Mutation_p.F81L|ZNF565_ENST00000355114.5_Intron	p.F81L	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN			3	1690	+	Esophageal squamous(110;0.162)		81					Q2TB94	Missense_Mutation	SNP	ENST00000443387.2	37	c.241T>C	CCDS12492.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.720742	0.89205	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	T;T	0.41065	1.01;1.01	4.46	4.46	0.54185	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000915	T	0.62073	0.2398	M	0.85197	2.74	0.42584	D	0.993229	D	0.53462	0.96	P	0.56612	0.802	T	0.70655	-0.4812	10	0.87932	D	0	-13.605	13.7155	0.62693	0.0:0.0:0.0:1.0	.	81	Q15072	OZF_HUMAN	L	81	ENSP00000392095:F81L;ENSP00000400391:F81L	ENSP00000392095:F81L	F	+	1	0	ZNF146	41419423	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.594000	0.67557	2.237000	0.73441	0.529000	0.55759	TTT		0.398	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1	NM_007145		9	85	0	0	0	1	0	9	85					C	36727583	T	C	36727583	3	2	469	1	0	0	0	0	1	0	0	0	17730	1493	52	4	243	4	ZNF146	19	36727583	Missense_Mutation	SNP	T	TCGA-YL-A9WI-01A-11D-A377-08	17392373	36727583	22401400	44	31711											
SCAF1	58506	broad.mit.edu	37	chr19	50156102	50156102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcagcagcggctcaggctCttcatcctcgtcgtcctcct	5	11	9	16	3	4	0	3	0	1	0	9	0	7	0	3	2	2	3	3	2	0	1			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:50156102C>T	ENST00000360565.3	+	7	2580	c.2456C>T	c.(2455-2457)tCt>tTt	p.S819F		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	819	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			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)		GGCTCAGGCTCTTCATCCTCG	0.662																																						ENST00000360565.3																			0				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						c.(2455-2457)tCt>tTt		SR-related CTD-associated factor 1							61	73	69					19																	50156102		2203	4300	6503	SO:0001583	missense	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50156102C>T	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.2456C>T	19.37:g.50156102C>T	ENSP00000353769:p.Ser819Phe						p.S819F	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	2580	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	819			Ser-rich.		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.2456C>T	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620695	0.28889	.	.	ENSG00000126461	ENST00000360565	T	0.34472	1.36	3.11	3.11	0.35812	.	.	.	.	.	T	0.42787	0.1218	L	0.27053	0.805	0.28906	N	0.892981	D	0.64830	0.994	D	0.74348	0.983	T	0.16778	-1.0391	8	.	.	.	-15.7573	9.958	0.41680	0.0:1.0:0.0:0.0	.	819	Q9H7N4	SFR19_HUMAN	F	819	ENSP00000353769:S819F	.	S	+	2	0	SCAF1	54847914	.	.	0.888000	0.34837	0.744000	0.42396	.	.	2.046000	0.60703	0.561000	0.74099	TCT		0.662	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		9	8	0	0	0	1	0	9	8					T	50156102	C	T	50156102	3	4	469	1	0	0	0	0	1	0	0	0	13868	913	32	3	2478	3	SCAF1	19	50156102	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08	13428519	50156102	8972881	45	31712											
KLK4	9622	broad.mit.edu	37	chr19	51412612	51412612	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcctgccagggctgcgaGtgcgggctgcagtcctcgcc	3	6	16	16	4	0	0	0	0	0	0	2	1	1	0	5	2	4	3	5	2	0	0			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:51412612G>C	ENST00000324041.1	-	2	119	c.120C>G	c.(118-120)caC>caG	p.H40Q	KLK4_ENST00000431178.2_5'Flank|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	40	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		AGGGCTGCGAGTGCGGGCTGC	0.632																																						ENST00000324041.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19						c.(118-120)caC>caG		kallikrein-related peptidase 4							137	151	147					19																	51412612		2203	4300	6503	SO:0001583	missense	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51412612G>C	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"Kallikreins", "Serine peptidases / Serine peptidases"	6365	protein-coding gene	gene with protein product		603767	"kallikrein 4 (prostase, enamel matrix, prostate)"	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.120C>G	19.37:g.51412612G>C	ENSP00000326159:p.His40Gln						p.H40Q	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	2	119	-		all_neural(266;0.026)	40			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Missense_Mutation	SNP	ENST00000324041.1	37	c.120C>G	CCDS12809.1	.	.	.	.	.	.	.	.	.	.	g	15.80	2.941165	0.53079	.	.	ENSG00000167749	ENST00000324041	D	0.93019	-3.15	3.96	1.62	0.23740	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.378221	0.19549	N	0.111616	D	0.89670	0.6782	M	0.64404	1.975	0.24603	N	0.993762	B	0.21147	0.052	B	0.12837	0.008	D	0.83708	0.0186	10	0.87932	D	0	.	6.4136	0.21704	0.106:0.0:0.7132:0.1807	.	40	Q9Y5K2	KLK4_HUMAN	Q	40	ENSP00000326159:H40Q	ENSP00000326159:H40Q	H	-	3	2	KLK4	56104424	0.993000	0.37304	0.752000	0.31206	0.641000	0.38312	1.209000	0.32357	1.013000	0.39391	0.561000	0.74099	CAC		0.632	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		19	153	0	0	0	1	0	19	153					C	51412612	G	C	51412612	3	2	469	1	0	0	0	0	1	0	0	0	8406	1020	36	5	660	5	KLK4	19	51412612	Missense_Mutation	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08	1256510	51412612	7716371	46	31713											
DPM1	8813	broad.mit.edu	37	chr20	49574993	49574993	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgaatatttgttctgtCgtggactgcgcacttccagc	7	12	10	12	3	1	0	0	0	1	0	3	2	2	1	2	1	2	3	2	1	2	4			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr20:49574993C>A	ENST00000371588.5	-	1	94	c.68G>T	c.(67-69)cGa>cTa	p.R23L	DPM1_ENST00000371582.4_Missense_Mutation_p.R23L|MOCS3_ENST00000244051.1_5'Flank|DPM1_ENST00000371583.5_Missense_Mutation_p.R23L|DPM1_ENST00000466152.1_5'UTR	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	23					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						TTTGTTCTGTCGTGGACTGCG	0.577																																						ENST00000371582.4																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						c.(67-69)cGa>cTa		dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit							75	66	69					20																	49574993		2203	4300	6503	SO:0001583	missense	8813				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	g.chr20:49574993C>A	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.68G>T	20.37:g.49574993C>A	ENSP00000360644:p.Arg23Leu					DPM1_ENST00000371588.5_Missense_Mutation_p.R23L|DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371583.5_Missense_Mutation_p.R23L	p.R23L			O60762	DPM1_HUMAN			1	99	-			23					O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.68G>T	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072771	0.36566	.	.	ENSG00000000419	ENST00000371588;ENST00000371582;ENST00000449701;ENST00000371583;ENST00000413082	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.48	1.22	0.21188	.	0.649152	0.13479	N	0.384893	T	0.29945	0.0749	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.15052	0.012	T	0.17167	-1.0378	9	.	.	.	-0.05	4.9025	0.13782	0.1431:0.504:0.2766:0.0763	.	23	O60762	DPM1_HUMAN	L	23	ENSP00000360644:R23L;ENSP00000360638:R23L;ENSP00000360639:R23L;ENSP00000394921:R23L	.	R	-	2	0	DPM1	49008400	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.042000	0.12063	-0.002000	0.14469	-0.158000	0.13435	CGA		0.577	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		28	13	1	0	1.12875e-08	1	1.19264e-08	28	13					A	49574993	C	A	49574993	3	1	469	1	0	0	0	0	1	0	0	0	4724	884	31	5	750	5	DPM1	20	49574993	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08		49574993	13450527	47	31714											
MAGEC1	9947	broad.mit.edu	37	chrX	140996226	140996226	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcttcataaagggcacCtatgcctctgaggaggtcat	11	11	9	10	0	5	1	3	1	2	0	5	2	5	2	2	3	1	1	2	3	3	3			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chrX:140996226C>A	ENST00000285879.4	+	4	3322	c.3036C>A	c.(3034-3036)acC>acA	p.T1012T	MAGEC1_ENST00000406005.2_Silent_p.T79T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1012	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									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)					TAAAGGGCACCTATGCCTCTG	0.547										HNSCC(15;0.026)																												ENST00000285879.4																			0				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						c.(3034-3036)acC>acA		melanoma antigen family C, 1							87	79	82					X																	140996226		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140996226C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3036C>A	X.37:g.140996226C>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Silent_p.T79T	p.T1012T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3322	+	Acute lymphoblastic leukemia(192;6.56e-05)		1012			MAGE.		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.3036C>A	CCDS35417.1																																																																																				0.547	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		50	7	1	0	9.57592e-29	1	1.11719e-28	50	7					A	140996226	C	A	140996226	2	1	469	1	0	0	0	0	0	0	0	1	9180	668	24	5		5	MAGEC1	23	140996226	Silent	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08		140996226	14274334	48	31715											
RAP1GAP	5909	broad.mit.edu	37	chr1	21924940	21924940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacactgtcctccagccacGtgctatagatgaaggagtcc	10	9	10	12	1	0	3	0	2	0	1	3	4	3	4	4	1	2	1	4	1	3	2	rs375344378		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr1:21924940G>A	ENST00000374765.4	-	22	2032	c.1832C>T	c.(1831-1833)aCg>aTg	p.T611M	RAP1GAP_ENST00000374761.2_Missense_Mutation_p.T642M|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.T675M|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.T696M|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.T637M	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	611					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CTCCAGCCACGTGCTATAGAT	0.607																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(1909-1911)aCg>aTg		RAP1 GTPase activating protein		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	94	79	84		1910,2024,1832	3.8	1	1		84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RAP1GAP	NM_001145657.1,NM_001145658.1,NM_002885.2	81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	637/682,675/728,611/664	21924940	1,13005	2203	4300	6503	SO:0001583	missense	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21924940G>A	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1832C>T	1.37:g.21924940G>A	ENSP00000363897:p.Thr611Met					RAP1GAP_ENST00000374765.4_Missense_Mutation_p.T611M|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.T696M|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.T675M|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.T642M	p.T637M	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		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)	24	2212	-		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)	611					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.1910C>T	CCDS218.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333247	0.81801	0.0	1.16E-4	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763	D;D;D;D	0.89875	-2.56;-2.56;-2.58;-2.55	4.72	3.8	0.43715	.	0.527792	0.16123	N	0.228546	D	0.87680	0.6238	L	0.27053	0.805	0.37578	D	0.919698	D;D;D;D	0.64830	0.994;0.967;0.98;0.967	P;P;P;P	0.59288	0.855;0.556;0.653;0.556	D	0.87160	0.2214	10	0.42905	T	0.14	-2.3679	9.9564	0.41668	0.1:0.0:0.9:0.0	.	637;611;641;611	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	M	675;642;637;611;641	ENSP00000290101:T675M;ENSP00000363893:T642M;ENSP00000441661:T637M;ENSP00000363897:T611M	ENSP00000290101:T675M	T	-	2	0	RAP1GAP	21797527	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	4.566000	0.60843	2.196000	0.70406	0.555000	0.69702	ACG		0.607	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		8	18	0	0	0	1	0	8	18					A	21924940	G	A	21924940	3	1	470	1	0	0	0	0	1	0	0	0	13037	1145	40	1	171	1	RAP1GAP	1	21924940	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08		21924940	227325681	1	31716											
PHACTR4	65979	broad.mit.edu	37	chr1	28800433	28800433	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaaaaggaagtccccaagagGatactggaccagaactttgg	16	6	11	8	0	0	2	0	0	0	2	1	5	1	5	3	4	2	0	3	4	6	2			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr1:28800433G>C	ENST00000373839.3	+	7	1452	c.1191G>C	c.(1189-1191)agG>agC	p.R397S	PHACTR4_ENST00000373836.3_Missense_Mutation_p.R407S|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	397	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			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)		TCCCCAAGAGGATACTGGACC	0.512																																						ENST00000373839.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1189-1191)agG>agC		phosphatase and actin regulator 4							72	73	72					1																	28800433		1888	4110	5998	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800433G>C	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"Phosphatase and actin regulators"	25793	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 124"	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1191G>C	1.37:g.28800433G>C	ENSP00000362945:p.Arg397Ser					PHACTR4_ENST00000373836.3_Missense_Mutation_p.R407S|PHACTR4_ENST00000493669.1_3'UTR	p.R397S	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		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)	7	1452	+		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)	397			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.1191G>C	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033599	0.35893	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.23348	1.91;1.94	5.75	2.87	0.33458	.	0.485801	0.23756	N	0.044876	T	0.11580	0.0282	N	0.16478	0.41	0.31005	N	0.71987	P;P	0.38504	0.634;0.501	B;B	0.34242	0.178;0.086	T	0.19811	-1.0294	10	0.07990	T	0.79	-2.3338	8.8223	0.35034	0.232:0.0:0.768:0.0	.	407;397	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	S	397;407;396	ENSP00000362945:R397S;ENSP00000362942:R407S	ENSP00000362942:R407S	R	+	3	2	PHACTR4	28673020	0.998000	0.40836	0.959000	0.39883	0.994000	0.84299	1.904000	0.39868	0.356000	0.24157	0.655000	0.94253	AGG		0.512	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		6	37	0	0	0	1	0	6	37					C	28800433	G	C	28800433	3	2	470	1	0	0	0	0	1	0	0	0	11812	1165	41	5	1263	5	PHACTR4	1	28800433	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08	6875493	28800433	220450188	2	31717											
HFM1	164045	broad.mit.edu	37	chr1	91846485	91846485	+	Missense_Mutation	SNP	G	G	A																															ttacatcatcaaaggccttgGactgtatatagttgaaatat																										TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr1:91846485G>A	ENST00000370425.3	-	7	955	c.857C>T	c.(856-858)tCc>tTc	p.S286F	HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	286					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			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)		AAAGGCCTTGGACTGTATATA	0.279																																						ENST00000370425.3																			0				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						c.(856-858)tCc>tTc		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							53	63	59					1																	91846485		2193	4286	6479	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91846485G>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.857C>T	1.37:g.91846485G>A	ENSP00000359454:p.Ser286Phe					HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_5'UTR	p.S286F	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		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)	7	955	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	286					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.857C>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700248	0.88924	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819	T	0.16196	2.36	5.81	5.81	0.92471	DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.47093	U	0.000246	T	0.50292	0.1607	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.62969	-0.6741	10	0.87932	D	0	.	20.0782	0.97758	0.0:0.0:1.0:0.0	.	286;286	B7ZM16;A2PYH4	.;HFM1_HUMAN	F	286;319;145	ENSP00000359454:S286F	ENSP00000359454:S286F	S	-	2	0	HFM1	91619073	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.150000	0.94667	2.746000	0.94184	0.655000	0.94253	TCC		0.279	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		9	45	0	0	0	1	0	9	45					A	91846485	G	A	91846485	3	1	470	1	0	0	0	0	1	0	0	0	7083	1174	41	3	3582	3	HFM1	1	91846485	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08	63046052	91846485	157404136	3	31718	153	2									
HFM1	164045	broad.mit.edu	37	chr1	91846486	91846486	+	Missense_Mutation	SNP	A	A	C																															tacatcatcaaaggccttggActgtatatagttgaaatatg																										TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr1:91846486A>C	ENST00000370425.3	-	7	954	c.856T>G	c.(856-858)Tcc>Gcc	p.S286A	HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	286					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			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)		AAGGCCTTGGACTGTATATAG	0.279																																						ENST00000370425.3																			0				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						c.(856-858)Tcc>Gcc		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							53	63	60					1																	91846486		2195	4287	6482	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91846486A>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.856T>G	1.37:g.91846486A>C	ENSP00000359454:p.Ser286Ala					HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_5'UTR	p.S286A	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		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)	7	954	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	286					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.856T>G	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555657	0.86231	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819	T	0.12361	2.69	5.81	5.81	0.92471	DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.47093	U	0.000246	T	0.25082	0.0609	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.69307	0.963;0.963	T	0.01242	-1.1408	10	0.87932	D	0	.	16.1637	0.81739	1.0:0.0:0.0:0.0	.	286;286	B7ZM16;A2PYH4	.;HFM1_HUMAN	A	286;319;145	ENSP00000359454:S286A	ENSP00000359454:S286A	S	-	1	0	HFM1	91619074	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.820000	0.75267	2.216000	0.71823	0.533000	0.62120	TCC		0.279	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		9	45	0	0	0	1	0	9	45					C	91846486	A	C	91846486	3	2	470	1	0	0	0	0	1	0	0	0	7083	275	10	5	3583	5	HFM1	1	91846486	Missense_Mutation	SNP	A	TCGA-YL-A9WJ-01A-11D-A377-08	1	91846486	157404135	4	31719	153	2									
HRNR	388697	broad.mit.edu	37	chr1	152187688	152187688	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctagatgactgtcctgaTctagagccgtgttgtccgta	7	12	10	12	2	1	4	0	2	1	2	3	4	3	4	5	0	1	2	5	0	3	4			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr1:152187688T>C	ENST00000368801.2	-	3	6492	c.6417A>G	c.(6415-6417)agA>agG	p.R2139R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2139					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGTCCTGATCTAGAGCCGT	0.577																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6415-6417)agA>agG		hornerin							170	189	183					1																	152187688		1592	3264	4856	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187688T>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6417A>G	1.37:g.152187688T>C						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R2139R	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6492	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2139					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6417A>G	CCDS30859.1																																																																																				0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		8	837	0	0	0	1	0	8	837					C	152187688	T	C	152187688	2	2	470	1	0	0	0	0	0	0	0	1	7359	1432	50	4		4	HRNR	1	152187688	Silent	SNP	T	TCGA-YL-A9WJ-01A-11D-A377-08	60341202	152187688	97062933	5	31720											
ADD2	119	broad.mit.edu	37	chr2	70906069	70906069	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcttgaacaaaggggtggcGatacgtgtaacctgttctgt	9	12	12	8	2	2	1	0	1	2	0	2	2	2	1	1	3	3	2	1	3	4	4			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:70906069G>C	ENST00000264436.4	-	11	1594	c.1150C>G	c.(1150-1152)Cgc>Ggc	p.R384G	ADD2_ENST00000413157.2_Missense_Mutation_p.R384G|ADD2_ENST00000430656.1_Missense_Mutation_p.R400G|ADD2_ENST00000407644.2_Missense_Mutation_p.R384G|ADD2_ENST00000355733.3_Missense_Mutation_p.R384G	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	384					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.R384G(2)|p.R400G(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AAGGGGTGGCGATACGTGTAA	0.498																																						ENST00000264436.3																			3	Substitution - Missense(3)	p.R384G(2)|p.R400G(1)	lung(3)	autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1150-1152)Cgc>Ggc		adducin 2 (beta)							149	141	144					2																	70906069		2203	4300	6503	SO:0001583	missense	119				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	g.chr2:70906069G>C	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1150C>G	2.37:g.70906069G>C	ENSP00000264436:p.Arg384Gly					ADD2_ENST00000430656.1_Missense_Mutation_p.R400G|ADD2_ENST00000413157.2_Missense_Mutation_p.R384G|ADD2_ENST00000355733.3_Missense_Mutation_p.R384G|ADD2_ENST00000407644.2_Missense_Mutation_p.R384G	p.R384G	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			11	1594	-			384					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1150C>G	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932863	0.73442	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	M	0.85373	2.75	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.998;0.998;0.996	T	0.52170	-0.8611	10	0.87932	D	0	-18.6857	16.343	0.83101	0.0:0.0:1.0:0.0	.	400;384;384;384	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	G	384;384;384;384;384;400	ENSP00000264436:R384G;ENSP00000384677:R384G;ENSP00000347972:R384G;ENSP00000388072:R384G;ENSP00000398112:R400G	ENSP00000264436:R384G	R	-	1	0	ADD2	70759577	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	6.394000	0.73223	2.716000	0.92895	0.655000	0.94253	CGC		0.498	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		16	68	0	0	0	1	0	16	68					C	70906069	G	C	70906069	3	2	470	1	0	0	0	0	1	0	0	0	305	1058	37	5	1231	5	ADD2	2	70906069	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08		70906069	172293304	6	31721											
NPHP1	4867	broad.mit.edu	37	chr2	110922636	110922636	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccacttttgtacctttgctTaacttctgctccatctgctg	5	17	5	14	0	2	0	0	0	2	0	3	0	3	0	3	0	5	4	3	0	2	6			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:110922636T>A	ENST00000393272.3	-	7	818	c.721A>T	c.(721-723)Aag>Tag	p.K241*	NPHP1_ENST00000417665.1_Nonsense_Mutation_p.K241*|NPHP1_ENST00000316534.4_Nonsense_Mutation_p.K241*|NPHP1_ENST00000445609.2_Nonsense_Mutation_p.K241*|NPHP1_ENST00000355301.4_Nonsense_Mutation_p.K179*	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	241					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TACCTTTGCTTAACTTCTGCT	0.348																																						ENST00000316534.4																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(721-723)Aag>Tag		nephronophthisis 1 (juvenile)							185	170	175					2																	110922636		2203	4300	6503	SO:0001587	stop_gained	4867				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	g.chr2:110922636T>A	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.721A>T	2.37:g.110922636T>A	ENSP00000376953:p.Lys241*					NPHP1_ENST00000445609.2_Nonsense_Mutation_p.K241*|NPHP1_ENST00000355301.4_Nonsense_Mutation_p.K179*|NPHP1_ENST00000417665.1_Nonsense_Mutation_p.K241*|NPHP1_ENST00000393272.3_Nonsense_Mutation_p.K241*	p.K241*			O15259	NPHP1_HUMAN			7	794	-			241					O14837	Nonsense_Mutation	SNP	ENST00000393272.3	37	c.721A>T	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	T	33	5.208049	0.95033	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	.	.	.	5.15	3.99	0.46301	.	0.362231	0.31370	N	0.007774	.	.	.	.	.	.	0.23425	N	0.997701	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6479	9.0306	0.36256	0.0:0.0888:0.0:0.9112	.	.	.	.	X	241;241;241;179;241	.	ENSP00000313169:K241X	K	-	1	0	NPHP1	110279925	0.390000	0.25213	0.017000	0.16124	0.979000	0.70002	1.670000	0.37502	0.807000	0.34208	0.460000	0.39030	AAG		0.348	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		14	52	0	0	0	1	0	14	52					A	110922636	T	A	110922636	4	1	470	1	0	0	0	0	0	1	0	0	10579	1763	61	5	1536	5	NPHP1	2	110922636	Nonsense_Mutation	SNP	T	TCGA-YL-A9WJ-01A-11D-A377-08	40016567	110922636	132276737	7	31722											
LRP1B	53353	broad.mit.edu	37	chr2	141108382	141108382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacaatcaagccactgtttGcttgccttttttctctgcca	7	17	5	12	0	2	0	1	0	1	0	3	0	2	0	3	0	5	2	3	0	3	6			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:141108382G>T	ENST00000389484.3	-	77	12847	c.11876C>A	c.(11875-11877)gCa>gAa	p.A3959E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3959					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			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)		GCCACTGTTTGCTTGCCTTTT	0.318										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(11875-11877)gCa>gAa		low density lipoprotein receptor-related protein 1B							68	70	69					2																	141108382		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141108382G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11876C>A	2.37:g.141108382G>T	ENSP00000374135:p.Ala3959Glu	TSP Lung(27;0.18)					p.A3959E	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		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)	77	12847	-		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)	3959					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11876C>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.808|2.808	-0.247595|-0.247595	0.05867|0.05867	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.90676|.	-2.71|.	5.48|5.48	4.6|4.6	0.57074|0.57074	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	0.539150|.	0.16804|.	N|.	0.198852|.	T|T	0.24547|0.24547	0.0595|0.0595	N|N	0.14661|0.14661	0.345|0.345	0.24143|0.24143	N|N	0.995726|0.995726	B|.	0.21606|.	0.058|.	B|.	0.18561|.	0.022|.	T|T	0.18335|0.18335	-1.0340|-1.0340	10|5	0.24483|.	T|.	0.36|.	.|.	10.6749|10.6749	0.45781|0.45781	0.0764:0.168:0.7556:0.0|0.0764:0.168:0.7556:0.0	.|.	3959|.	Q9NZR2|.	LRP1B_HUMAN|.	E|K	3959;3897|191	ENSP00000374135:A3959E|.	ENSP00000374135:A3959E|.	A|Q	-|-	2|1	0|0	LRP1B|LRP1B	140824852|140824852	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.777000|0.777000	0.43975|0.43975	4.069000|4.069000	0.57541|0.57541	1.452000|1.452000	0.47756|0.47756	-0.140000|-0.140000	0.14226|0.14226	GCA|CAA		0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	38	1	0	0.00198382	1	0.0021132	7	38					T	141108382	G	T	141108382	3	4	470	1	0	0	0	0	1	0	0	0	8955	1319	46	5	1983	5	LRP1B	2	141108382	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08	30185746	141108382	102090991	8	31723											
ZNF142	7701	broad.mit.edu	37	chr2	219508714	219508714	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcccggcgagtgataaaaGggcagtgtgggcagcggaag	10	6	17	8	3	1	1	0	1	1	0	2	3	1	2	1	4	1	2	1	4	3	1			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:219508714G>C	ENST00000449707.1	-	8	2946	c.2525C>G	c.(2524-2526)cCt>cGt	p.P842R	ZNF142_ENST00000411696.2_Missense_Mutation_p.P842R	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	842					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		AGTGATAAAAGGGCAGTGTGG	0.627																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(2524-2526)cCt>cGt		zinc finger protein 142							116	124	121					2																	219508714		2037	4164	6201	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508714G>C	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.2525C>G	2.37:g.219508714G>C	ENSP00000408643:p.Pro842Arg					ZNF142_ENST00000449707.1_Missense_Mutation_p.P842R	p.P842R			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	3304	-		Renal(207;0.0474)	842					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.2525C>G	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071033	0.76301	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.27890	1.64;1.64	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);	0.115539	0.64402	D	0.000013	T	0.48607	0.1509	L	0.41492	1.28	0.40975	D	0.984731	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.35699	-0.9778	10	0.40728	T	0.16	-17.5347	18.9765	0.92738	0.0:0.0:1.0:0.0	.	842;679	P52746;A8MWU9	ZN142_HUMAN;.	R	842	ENSP00000408643:P842R;ENSP00000398798:P842R	ENSP00000398798:P842R	P	-	2	0	ZNF142	219216958	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.444000	0.73452	2.720000	0.93068	0.655000	0.94253	CCT		0.627	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		19	58	0	0	0	1	0	19	58					C	219508714	G	C	219508714	3	2	470	1	0	0	0	0	1	0	0	0	17728	1000	35	5	2550	5	ZNF142	2	219508714	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08	78400332	219508714	23690659	9	31724											
AQP12A	375318	broad.mit.edu	37	chr2	241631584	241631584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctcttcctggcgcacgggGtcaccttggacggggcctcg	3	9	15	14	4	2	0	1	0	1	0	4	1	3	1	3	6	1	2	3	6	0	2	rs199880904		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:241631584G>T	ENST00000337801.4	+	2	286	c.217G>T	c.(217-219)Gtc>Ttc	p.V73F	AQP12A_ENST00000429564.1_Missense_Mutation_p.V85F|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	73						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGCGCACGGGGTCACCTTGGA	0.667																																						ENST00000429564.1																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14						c.(253-255)Gtc>Ttc		aquaporin 12A							30	45	40					2																	241631584		2151	4265	6416	SO:0001583	missense	375318					integral to membrane	transporter activity	g.chr2:241631584G>T	AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"Ion channels / Aquaporins"	19941	protein-coding gene	gene with protein product		609789	"aquaporin 12"	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.217G>T	2.37:g.241631584G>T	ENSP00000337144:p.Val73Phe					AQP12A_ENST00000337801.4_Missense_Mutation_p.V73F	p.V85F			Q8IXF9	AQ12A_HUMAN		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)	2	316	+		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)	73						Missense_Mutation	SNP	ENST00000337801.4	37	c.253G>T		.	.	.	.	.	.	.	.	.	.	.	1.073	-0.669235	0.03403	.	.	ENSG00000184945	ENST00000337801;ENST00000429564;ENST00000420599	T;T	0.11277	2.79;2.79	2.58	2.58	0.30949	Aquaporin-like (2);	0.350897	0.29198	N	0.012848	T	0.03434	0.0099	N	0.02916	-0.46	0.09310	N	0.999998	B	0.11235	0.004	B	0.12837	0.008	T	0.45600	-0.9250	10	0.09843	T	0.71	.	6.7793	0.23636	0.0:0.0:0.7211:0.2789	.	73	Q8IXF9	AQ12A_HUMAN	F	73;85;58	ENSP00000337144:V73F;ENSP00000405899:V85F	ENSP00000337144:V73F	V	+	1	0	AQP12A	241280257	0.003000	0.15002	0.643000	0.29450	0.067000	0.16453	1.019000	0.30014	1.474000	0.48178	0.186000	0.17326	GTC		0.667	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998		3	35	1	0	0.00024832	1	0.000282969	3	35					T	241631584	G	T	241631584	3	4	470	1	0	0	0	0	1	0	0	0	824	1261	44	5	223	5	AQP12A	2	241631584	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08	22122870	241631584	1567789	10	31725											
PRDM8	56978	broad.mit.edu	37	chr4	81123252	81123252	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcggtggcaaagaccaGcagcagcagcagcaggaggc	11	1	18	11	2	0	1	0	0	0	1	0	2	0	2	1	6	5	6	1	6	1	0			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr4:81123252G>C	ENST00000504452.1	+	8	1475	c.636G>C	c.(634-636)caG>caC	p.Q212H	PRDM8_ENST00000415738.2_Missense_Mutation_p.Q212H|PRDM8_ENST00000339711.4_Missense_Mutation_p.Q212H			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	212	Gly-rich.|Poly-Gln.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcaaagaccagcagcagcagc	0.652											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(634-636)caG>caC		PR domain containing 8							21	27	25					4																	81123252		2021	4184	6205	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123252G>C	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.636G>C	4.37:g.81123252G>C	ENSP00000423985:p.Gln212His		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_Missense_Mutation_p.Q212H|PRDM8_ENST00000415738.2_Missense_Mutation_p.Q212H	p.Q212H	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1867	+			212			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.636G>C	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	G	3.493	-0.103514	0.06967	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.65916	-0.18;0.4;-0.18;-0.18	4.62	-4.47	0.03525	.	5.058670	0.00559	N	0.000261	T	0.46132	0.1377	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26985	-1.0087	10	0.29301	T	0.29	.	8.4825	0.33052	0.2299:0.4579:0.3122:0.0	.	212	Q9NQV8	PRDM8_HUMAN	H	212	ENSP00000423985:Q212H;ENSP00000425149:Q212H;ENSP00000339764:Q212H;ENSP00000406998:Q212H	ENSP00000339764:Q212H	Q	+	3	2	PRDM8	81342276	0.732000	0.28121	0.000000	0.03702	0.003000	0.03518	-1.260000	0.02858	-1.567000	0.01671	-2.229000	0.00292	CAG		0.652	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			3	39	0	0	0	1	0	3	39					C	81123252	G	C	81123252	3	2	470	1	0	0	0	0	1	0	0	0	12462	962	34	5	646	5	PRDM8	4	81123252	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08		81123252	110031024	11	31726											
PCDH10	57575	broad.mit.edu	37	chr4	134073272	134073272	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttatgagctggtgatcgaGgtgcgcgaccatgggcagcc	7	8	15	11	3	0	2	0	2	0	0	1	4	0	2	3	3	3	2	3	3	1	1			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr4:134073272G>C	ENST00000264360.5	+	1	2803	c.1977G>C	c.(1975-1977)gaG>gaC	p.E659D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	659	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		TGGTGATCGAGGTGCGCGACC	0.711																																						ENST00000264360.4																			0				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						c.(1975-1977)gaG>gaC		protocadherin 10							18	21	20					4																	134073272		2190	4290	6480	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073272G>C	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1977G>C	4.37:g.134073272G>C	ENSP00000264360:p.Glu659Asp						p.E659D	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2803	+			659			Cadherin 6.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1977G>C	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232540	0.39498	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.39229	1.09	4.47	3.58	0.41010	Cadherin (4);Cadherin-like (1);	0.000000	0.44285	D	0.000477	T	0.51873	0.1700	L	0.56769	1.78	0.58432	D	0.999992	D;P	0.71674	0.998;0.645	D;P	0.80764	0.994;0.707	T	0.50591	-0.8810	10	0.13108	T	0.6	.	7.7283	0.28773	0.204:0.0:0.796:0.0	.	659;659	Q9P2E7;Q96SF0	PCD10_HUMAN;.	D	659	ENSP00000264360:E659D	ENSP00000264360:E659D	E	+	3	2	PCDH10	134292722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.549000	0.60726	1.012000	0.39366	0.655000	0.94253	GAG		0.711	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		6	23	0	0	0	1	0	6	23					C	134073272	G	C	134073272	3	2	470	1	0	0	0	0	1	0	0	0	11507	991	35	5	1979	5	PCDH10	4	134073272	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08	52950020	134073272	57081004	12	31727											
FGA	2243	broad.mit.edu	37	chr4	155507041	155507041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagaaggcagcttcatcagGgtgcctatggcggaacccat	11	7	13	10	1	2	1	2	0	0	1	2	3	2	2	2	4	3	2	2	4	4	2			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr4:155507041G>T	ENST00000302053.3	-	5	1618	c.1540C>A	c.(1540-1542)Cct>Act	p.P514T	FGA_ENST00000403106.3_Missense_Mutation_p.P514T	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	514					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GCTTCATCAGGGTGCCTATGG	0.498																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1540-1542)Cct>Act		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						100	98	99					4																	155507041		2203	4300	6503	SO:0001583	missense	2243				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	g.chr4:155507041G>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1540C>A	4.37:g.155507041G>T	ENSP00000306361:p.Pro514Thr					FGA_ENST00000403106.3_Missense_Mutation_p.P514T	p.P514T	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1618	-	all_hematologic(180;0.215)	Renal(120;0.0458)	514					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1540C>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.471107	0.26423	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.58506	0.33;2.49	5.65	2.94	0.34122	.	.	.	.	.	T	0.47581	0.1453	L	0.53249	1.67	0.09310	N	1	B;P	0.34546	0.379;0.456	B;B	0.27170	0.077;0.068	T	0.33497	-0.9866	9	0.49607	T	0.09	.	8.2506	0.31715	0.0716:0.0:0.6318:0.2966	.	514;514	P02671-2;P02671	.;FIBA_HUMAN	T	514	ENSP00000306361:P514T;ENSP00000385981:P514T	ENSP00000306361:P514T	P	-	1	0	FGA	155726491	0.390000	0.25213	0.001000	0.08648	0.023000	0.10783	1.588000	0.36633	0.449000	0.26747	-0.182000	0.12963	CCT		0.498	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		21	69	1	0	1.00905e-13	1	1.23608e-13	21	69					T	155507041	G	T	155507041	3	4	470	1	0	0	0	0	1	0	0	0	5830	1232	43	5	1112	5	FGA	4	155507041	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08	21433769	155507041	35647235	13	31728											
FSTL5	56884	broad.mit.edu	37	chr4	162307016	162307016	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccttggaaggtgtcatcagGtattgaccaaacaagccact	12	10	9	10	0	2	1	2	1	0	0	3	2	3	2	3	3	2	1	3	3	4	3			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr4:162307016G>T	ENST00000306100.5	-	16	2863	c.2427C>A	c.(2425-2427)taC>taA	p.Y809*	FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Y799*|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Y808*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Y808*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	809						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTGTCATCAGGTATTGACCAA	0.418																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(2425-2427)taC>taA		follistatin-like 5							202	183	189					4																	162307016		2203	4300	6503	SO:0001587	stop_gained	56884					extracellular region	calcium ion binding	g.chr4:162307016G>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2427C>A	4.37:g.162307016G>T	ENSP00000305334:p.Tyr809*					RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Y808*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Y808*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Y799*	p.Y809*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2863	-	all_hematologic(180;0.24)		809					E9PCP6|Q9NSW7|Q9ULF7	Nonsense_Mutation	SNP	ENST00000306100.5	37	c.2427C>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	41	8.710224	0.98925	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	.	.	.	5.73	2.99	0.34606	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.118	0.30955	0.3377:0.0:0.6623:0.0	.	.	.	.	X	809;808;799;808	.	ENSP00000305334:Y809X	Y	-	3	2	FSTL5	162526466	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.228000	0.42981	0.722000	0.32252	0.655000	0.94253	TAC		0.418	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		33	105	1	0	2.61193e-14	1	3.28166e-14	33	105					T	162307016	G	T	162307016	4	4	470	1	0	0	0	0	0	1	0	0	6080	1256	44	5	120	5	FSTL5	4	162307016	Nonsense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08	6799975	162307016	28847260	14	31729											
COL28A1	340267	broad.mit.edu	37	chr7	7514264	7514264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gattgacaggccttgtaatcCctgtgggccagttggtcctt	6	13	12	10	0	0	1	0	1	0	0	2	2	2	1	4	3	0	2	4	3	1	5			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr7:7514264C>T	ENST00000399429.3	-	15	1410	c.1270G>A	c.(1270-1272)Gga>Aga	p.G424R		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	424					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			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)		CCTTGTAATCCCTGTGGGCCA	0.393																																						ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(1270-1272)Gga>Aga		collagen, type XXVIII, alpha 1							136	136	136					7																	7514264		1846	4106	5952	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7514264C>T	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1270G>A	7.37:g.7514264C>T	ENSP00000382356:p.Gly424Arg						p.G424R	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	15	1410	-		Ovarian(82;0.0789)	424					A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.1270G>A	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071447	0.76301	.	.	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.94758	-3.51	4.7	4.7	0.59300	.	0.000000	0.53938	U	0.000053	D	0.98160	0.9392	H	0.97564	4.03	0.38796	D	0.955096	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.976	D	0.99790	1.1031	10	0.87932	D	0	-6.096	13.346	0.60573	0.0:1.0:0.0:0.0	.	424;424	Q2UY09-2;Q2UY09	.;COSA1_HUMAN	R	424	ENSP00000382356:G424R	ENSP00000382347:G424R	G	-	1	0	COL28A1	7480789	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.514000	0.45503	2.609000	0.88269	0.650000	0.86243	GGA		0.393	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		5	44	0	0	0	1	0	5	44					T	7514264	C	T	7514264	3	4	470	1	0	0	0	0	1	0	0	0	3686	632	22	3	2191	3	COL28A1	7	7514264	Missense_Mutation	SNP	C	TCGA-YL-A9WJ-01A-11D-A377-08		7514264	151624399	15	31730											
MYPN	84665	broad.mit.edu	37	chr10	69881645	69881645	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acccagtccaaaaaagtattTttaaataaggctgccgactt	15	11	6	9	1	0	0	0	0	0	0	1	1	1	0	3	1	1	2	3	1	7	6			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr10:69881645T>C	ENST00000358913.5	+	2	938	c.450T>C	c.(448-450)ttT>ttC	p.F150F	MYPN_ENST00000540630.1_Silent_p.F150F|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Silent_p.F150F	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	150	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAAAAGTATTTTTAAATAAGG	0.458																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(448-450)ttT>ttC		myopalladin							43	44	44					10																	69881645		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69881645T>C	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.450T>C	10.37:g.69881645T>C						MYPN_ENST00000540630.1_Silent_p.F150F|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Silent_p.F150F	p.F150F	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			2	938	+			150			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.450T>C	CCDS7275.1																																																																																				0.458	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		5	29	0	0	0	1	0	5	29					C	69881645	T	C	69881645	2	2	470	1	0	0	0	0	0	0	0	1	10098	1838	64	4		4	MYPN	10	69881645	Silent	SNP	T	TCGA-YL-A9WJ-01A-11D-A377-08		69881645	65653102	16	31731											
MS4A14	84689	broad.mit.edu	37	chr11	60183438	60183438	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtagaaggcctgtcagaaCaaaccatgccatctaagtct	14	8	8	11	0	3	2	1	0	2	2	3	2	3	2	3	1	3	1	3	1	5	2	rs150784858		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr11:60183438C>A	ENST00000300187.6	+	5	1274	c.997C>A	c.(997-999)Caa>Aaa	p.Q333K	MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.Q366K|MS4A14_ENST00000395005.2_Missense_Mutation_p.Q316K|MS4A14_ENST00000531787.1_Missense_Mutation_p.Q221K	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	333						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCTGTCAGAACAAACCATGCC	0.453																																						ENST00000300187.6																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(997-999)Caa>Aaa		membrane-spanning 4-domains, subfamily A, member 14							120	105	110					11																	60183438		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183438C>A	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.997C>A	11.37:g.60183438C>A	ENSP00000300187:p.Gln333Lys					MS4A14_ENST00000531783.1_Missense_Mutation_p.Q366K|MS4A14_ENST00000531787.1_Missense_Mutation_p.Q221K|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.Q316K	p.Q333K	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN			5	1274	+			333					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.997C>A	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013241	0.35511	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.39787	1.1;2.21;1.06;2.56	3.59	1.61	0.23674	.	4.832760	0.00481	N	0.000140	T	0.36413	0.0966	L	0.32530	0.975	0.09310	N	1	B;B	0.26602	0.154;0.096	B;B	0.24394	0.053;0.024	T	0.35871	-0.9771	10	0.87932	D	0	0.5753	8.2921	0.31963	0.4306:0.5694:0.0:0.0	.	316;333	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	K	221;333;316;366	ENSP00000437222:Q221K;ENSP00000300187:Q333K;ENSP00000378453:Q316K;ENSP00000433761:Q366K	ENSP00000300187:Q333K	Q	+	1	0	MS4A14	59940014	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	-0.913000	0.04042	0.452000	0.26830	-0.188000	0.12872	CAA		0.453	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			7	32	1	0	0.00307968	1	0.00321073	7	32					A	60183438	C	A	60183438	3	1	470	1	0	0	0	0	1	0	0	0	9858	479	17	5	1015	5	MS4A14	11	60183438	Missense_Mutation	SNP	C	TCGA-YL-A9WJ-01A-11D-A377-08		60183438	74823078	17	31732											
FOLR4	390243	broad.mit.edu	37	chr11	94040775	94040775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccaatgtggccgtggccCgcctcttcgccagctctgcc	4	8	10	19	3	2	0	0	0	2	0	3	0	2	0	7	2	2	1	7	2	1	1	rs373997875		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr11:94040775C>T	ENST00000440961.2	+	4	693	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	224					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						GGCCGTGGCCCGCCTCTTCGC	0.602																																						ENST00000440961.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(649-651)Cgc>Tgc		folate receptor 4, delta (putative)		C	CYS/ARG	0,4148		0,0,2074	164	176	172		670	4.2	0.9	11		172	1,8395		0,1,4197	no	missense	FOLR4	NM_001199206.1	180	0,1,6271	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	224/251	94040775	1,12543	2074	4198	6272	SO:0001583	missense	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94040775C>T			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"folate receptor 4 (delta) homolog (mouse)"			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.649C>T	11.37:g.94040775C>T	ENSP00000416935:p.Arg217Cys						p.R217C	NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN			4	693	+			224						Missense_Mutation	SNP	ENST00000440961.2	37	c.649C>T		.	.	.	.	.	.	.	.	.	.	C	18.24	3.579949	0.65992	0.0	1.19E-4	ENSG00000183560	ENST00000440961	T	0.75260	-0.92	4.23	4.23	0.50019	.	0.728821	0.13412	N	0.389798	T	0.78729	0.4329	L	0.39898	1.24	0.26241	N	0.978865	D	0.89917	1.0	D	0.66847	0.947	T	0.67852	-0.5563	10	0.87932	D	0	-30.5745	9.6624	0.39962	0.2079:0.7921:0.0:0.0	.	217	A6ND01-2	.	C	217	ENSP00000416935:R217C	ENSP00000416935:R217C	R	+	1	0	FOLR4	93680423	0.019000	0.18553	0.900000	0.35374	0.989000	0.77384	0.491000	0.22419	2.366000	0.80165	0.491000	0.48974	CGC		0.602	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		5	102	0	0	0	1	0	5	102					T	94040775	C	T	94040775	3	4	470	1	0	0	0	0	1	0	0	0	5984	652	23	2	663	2	FOLR4	11	94040775	Missense_Mutation	SNP	C	TCGA-YL-A9WJ-01A-11D-A377-08	33857337	94040775	40965741	18	31733											
OR10G8	219869	broad.mit.edu	37	chr11	123901102	123901102	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggccctggtcttttcatttAcctgaggccaggctccagga	6	12	11	12	0	2	1	1	1	1	0	3	2	3	2	4	5	1	1	4	5	1	4			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr11:123901102A>G	ENST00000431524.1	+	1	806	c.773A>G	c.(772-774)tAc>tGc	p.Y258C		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTTTTCATTTACCTGAGGCCA	0.557																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(772-774)tAc>tGc		olfactory receptor, family 10, subfamily G, member 8							127	115	119					11																	123901102		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901102A>G	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.773A>G	11.37:g.123901102A>G	ENSP00000389072:p.Tyr258Cys						p.Y258C	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	806	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	258					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.773A>G	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	A	8.175	0.792503	0.16258	.	.	ENSG00000234560	ENST00000431524	T	0.00295	8.25	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	N	0.001518	T	0.00784	0.0026	M	0.94101	3.495	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.24512	-1.0158	10	0.87932	D	0	.	7.1408	0.25554	0.8841:0.0:0.1159:0.0	.	258	Q8NGN5	O10G8_HUMAN	C	258	ENSP00000389072:Y258C	ENSP00000389072:Y258C	Y	+	2	0	OR10G8	123406312	0.823000	0.29233	0.923000	0.36655	0.159000	0.22180	1.881000	0.39638	1.319000	0.45190	0.455000	0.32223	TAC		0.557	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		19	93	0	0	0	1	0	19	93					G	123901102	A	G	123901102	3	3	470	1	0	0	0	0	1	0	0	0	10903	391	14	4	775	4	OR10G8	11	123901102	Missense_Mutation	SNP	A	TCGA-YL-A9WJ-01A-11D-A377-08	29860327	123901102	11105414	19	31734											
KRT80	144501	broad.mit.edu	37	chr12	52565485	52565485	+	Frame_Shift_Del	DEL	G	G	-																															gcgctgaccacagtggctgaGggcgagtccatcctgggggt																										TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr12:52565485delG	ENST00000394815.2	-	8	1288	c.1191delC	c.(1189-1191)cccfs	p.P397fs	KRT80_ENST00000313234.5_Frame_Shift_Del_p.P397fs	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	397	Tail.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CAGTGGCTGAGGGCGAGTCCA	0.637																																					GBM(178;2309 2916 15678 35873)	ENST00000313234.5																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(1189-1191)ccfs		keratin 80							27	21	23					12																	52565485		2186	4287	6473	SO:0001589	frameshift_variant	144501					keratin filament	structural molecule activity	g.chr12:52565485delG	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"-", "Intermediate filaments type II, keratins (basic)"	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.1191delC	12.37:g.52565485delG	ENSP00000378292:p.Pro397fs					KRT80_ENST00000394815.2_Frame_Shift_Del_p.P397fs	p.P397fs	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	8	1288	-			397			Tail.		Q6P1A5|Q7Z3Q0	Frame_Shift_Del	DEL	ENST00000394815.2	37	c.1191delC	CCDS8821.2																																																																																				0.637	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		2	4						2	4	---	---	---	---	-	52565485	G	-	52565485	7	5	470	1	0	1	0	1	0	0	0	0	8494	987	35	0	210	0	KRT80	12	52565485	Frame_Shift_Del	DEL	G	TCGA-YL-A9WJ-01A-11D-A377-08		52565485	81286410	20	31735											
ATP12A	479	broad.mit.edu	37	chr13	25283890	25283890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaagagggctttctgccccGcactctcattaacctgcggg	8	9	10	14	2	2	1	1	0	2	1	3	1	2	1	3	2	3	2	3	2	2	2			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr13:25283890G>A	ENST00000381946.3	+	19	2854	c.2687G>A	c.(2686-2688)cGc>cAc	p.R896H	ATP12A_ENST00000218548.6_Missense_Mutation_p.R902H			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	896					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.R896H(1)		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)		TTTCTGCCCCGCACTCTCATT	0.527																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			1	Substitution - Missense(1)	p.R896H(1)	large_intestine(1)	breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(2704-2706)cGc>cAc		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						136	134	134					13																	25283890		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25283890G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2687G>A	13.37:g.25283890G>A	ENSP00000371372:p.Arg896His					ATP12A_ENST00000381946.3_Missense_Mutation_p.R896H	p.R902H	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	19	3038	+		Lung SC(185;0.0225)|Breast(139;0.077)	896					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.2705G>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	1.603	-0.526076	0.04141	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.88741	-2.42;-2.42	6.03	-3.41	0.04839	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	1.216330	0.05322	N	0.526781	T	0.71031	0.3292	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.59899	-0.7367	10	0.15066	T	0.55	.	9.6025	0.39612	0.3765:0.4958:0.1277:0.0	.	902;896	P54707-2;P54707	.;AT12A_HUMAN	H	902;896	ENSP00000218548:R902H;ENSP00000371372:R896H	ENSP00000218548:R902H	R	+	2	0	ATP12A	24181890	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.215000	0.17562	-0.305000	0.08831	-0.885000	0.02943	CGC		0.527	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		14	103	0	0	0	1	0	14	103					A	25283890	G	A	25283890	3	1	470	1	0	0	0	0	1	0	0	0	1122	1087	38	1	2779	1	ATP12A	13	25283890	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08		25283890	89885988	21	31736											
FREM2	341640	broad.mit.edu	37	chr13	39263438	39263438	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacataacagagggcaggCtgttctatagacactctggg	12	8	13	8	0	2	2	0	0	2	2	2	3	2	3	0	4	1	3	0	4	3	4			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr13:39263438C>T	ENST00000280481.7	+	1	2173	c.1957C>T	c.(1957-1959)Ctg>Ttg	p.L653L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	653					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGAGGGCAGGCTGTTCTATAG	0.532																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1957-1959)Ctg>Ttg		FRAS1 related extracellular matrix protein 2							72	66	68					13																	39263438		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263438C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1957C>T	13.37:g.39263438C>T							p.L653L	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		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)	1	2173	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	653					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.1957C>T	CCDS31960.1																																																																																				0.532	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		7	24	0	0	0	1	0	7	24					T	39263438	C	T	39263438	2	4	470	1	0	0	0	0	0	0	0	1	6045	796	28	3		3	FREM2	13	39263438	Silent	SNP	C	TCGA-YL-A9WJ-01A-11D-A377-08	13979548	39263438	75906440	22	31737											
PCDH17	27253	broad.mit.edu	37	chr13	58299274	58299274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcattccagagccagccGggattccagtgagatgggtg	8	9	15	9	1	0	2	0	1	0	2	2	4	2	3	4	2	3	1	4	2	0	2			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr13:58299274G>A	ENST00000377918.3	+	4	3352	c.3326G>A	c.(3325-3327)cGg>cAg	p.R1109Q		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1109					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		AGAGCCAGCCGGGATTCCAGT	0.517																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				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						c.(3325-3327)cGg>cAg		protocadherin 17							157	159	158					13																	58299274		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299274G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3326G>A	13.37:g.58299274G>A	ENSP00000367151:p.Arg1109Gln						p.R1109Q	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	3352	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1109					A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3326G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019445	0.35606	.	.	ENSG00000118946	ENST00000377918	T	0.50277	0.75	6.07	6.07	0.98685	.	0.061511	0.64402	D	0.000002	T	0.29288	0.0729	N	0.04508	-0.205	0.46458	D	0.999056	B	0.17667	0.023	B	0.06405	0.002	T	0.16394	-1.0404	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1109	O14917	PCD17_HUMAN	Q	1109	ENSP00000367151:R1109Q	.	R	+	2	0	PCDH17	57197275	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.204000	0.77872	2.885000	0.99019	0.655000	0.94253	CGG		0.517	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		21	80	0	0	0	1	0	21	80					A	58299274	G	A	58299274	3	1	470	1	0	0	0	0	1	0	0	0	11512	1116	39	2	3340	2	PCDH17	13	58299274	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08	19035836	58299274	56870604	23	31738											
SCEL	8796	broad.mit.edu	37	chr13	78167665	78167665	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaggagtcaggatcttgatAacatcgtcaaagtggccact	13	9	11	8	1	3	1	2	1	1	0	4	4	3	3	1	3	1	0	1	3	3	2			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr13:78167665A>G	ENST00000349847.3	+	12	793	c.709A>G	c.(709-711)Aac>Gac	p.N237D	SCEL_ENST00000377246.3_Intron|SCEL_ENST00000535157.1_Missense_Mutation_p.N215D	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	237					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GGATCTTGATAACATCGTCAA	0.373																																						ENST00000535157.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40						c.(643-645)Aac>Gac		sciellin							131	120	124					13																	78167665		2203	4300	6503	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78167665A>G	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.709A>G	13.37:g.78167665A>G	ENSP00000302579:p.Asn237Asp					SCEL_ENST00000349847.3_Missense_Mutation_p.N237D|SCEL_ENST00000377246.3_Intron	p.N215D	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	11	813	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	237					B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.643A>G	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	A	5.409	0.260667	0.10239	.	.	ENSG00000136155	ENST00000535157;ENST00000349847	T;T	0.22539	1.95;1.95	5.36	-1.49	0.08718	.	0.559652	0.17418	N	0.174924	T	0.09905	0.0243	L	0.28115	0.83	0.09310	N	1	B;B	0.15930	0.012;0.015	B;B	0.14023	0.004;0.01	T	0.34750	-0.9816	10	0.12766	T	0.61	-2.2163	4.7271	0.12946	0.4516:0.295:0.2533:0.0	.	215;237	F5H651;O95171	.;SCEL_HUMAN	D	215;237	ENSP00000437895:N215D;ENSP00000302579:N237D	ENSP00000302579:N237D	N	+	1	0	SCEL	77065666	0.007000	0.16637	0.000000	0.03702	0.729000	0.41735	0.135000	0.15952	-0.141000	0.11374	0.533000	0.62120	AAC		0.373	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		5	34	0	0	0	1	0	5	34					G	78167665	A	G	78167665	3	3	470	1	0	0	0	0	1	0	0	0	13888	362	13	4	751	4	SCEL	13	78167665	Missense_Mutation	SNP	A	TCGA-YL-A9WJ-01A-11D-A377-08	19868391	78167665	37002213	24	31739											
SLCO3A1	28232	broad.mit.edu	37	chr15	92459355	92459355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcggggcacgcgggcacCggccgcgcctgatcggctgc	4	5	16	16	7	0	1	0	1	0	0	2	1	0	1	3	5	1	3	3	5	0	1			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr15:92459355C>T	ENST00000318445.6	+	2	527	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R105W	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	105					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	ACGCGGGCACCGGCCGCGCCT	0.677																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(313-315)Cgg>Tgg		solute carrier organic anion transporter family, member 3A1							25	20	22					15																	92459355		2175	4224	6399	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92459355C>T	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.313C>T	15.37:g.92459355C>T	ENSP00000320634:p.Arg105Trp					SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R105W	p.R105W	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		2	527	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		105					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.313C>T	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964090	0.74131	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000553304	T;T;T	0.55234	0.53;0.53;0.53	5.22	3.21	0.36854	Major facilitator superfamily domain, general substrate transporter (1);	0.284662	0.36703	N	0.002443	T	0.77538	0.4145	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.84171	0.0434	10	0.87932	D	0	.	14.1504	0.65381	0.4052:0.5948:0.0:0.0	.	47;105;105	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	W	105;105;47	ENSP00000320634:R105W;ENSP00000387846:R105W;ENSP00000450559:R47W	ENSP00000320634:R105W	R	+	1	2	SLCO3A1	90260359	0.976000	0.34144	1.000000	0.80357	0.923000	0.55619	0.141000	0.16076	1.336000	0.45506	0.655000	0.94253	CGG		0.677	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		8	23	0	0	0	1	0	8	23					T	92459355	C	T	92459355	3	4	470	1	0	0	0	0	1	0	0	0	14728	643	23	2	319	2	SLCO3A1	15	92459355	Missense_Mutation	SNP	C	TCGA-YL-A9WJ-01A-11D-A377-08		92459355	10072037	25	31740											
MSLNL	401827	broad.mit.edu	37	chr16	825148	825149	+	Frame_Shift_Ins	INS	-	-	G																															gctccggcccaccccacccaINSgcgcccaccaggcaggccac																										TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr16:825148_825149insG	ENST00000442466.1	-	5	499_500	c.500_501insC	c.(499-501)gctfs	p.A167fs	MSLNL_ENST00000293892.3_Frame_Shift_Ins_p.A493fs			Q96KJ4	MSLNL_HUMAN	mesothelin-like	167					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CACCCCACCCAGCGCCCACCAG	0.738																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(1477-1479)gggfs		mesothelin-like																																				SO:0001589	frameshift_variant	401827				cell adhesion	integral to membrane		g.chr16:825148_825149insG			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.501dupC	16.37:g.825149_825149dupG	ENSP00000415767:p.Ala167fs					MSLNL_ENST00000442466.1_Frame_Shift_Ins_p.G167fs	p.G493fs			Q96KJ4	MSLNL_HUMAN			6	1477_1478	-			167						Frame_Shift_Ins	INS	ENST00000442466.1	37	c.1478_1479insC																																																																																					0.738	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		2	4						2	4	---	---	---	---	G	825149	-	G	825148	7	5	470	1	0	1	1	0	0	0	0	0	9882	175	7	0	1726	0	MSLNL	16	825148	Frame_Shift_Ins	INS	-	TCGA-YL-A9WJ-01A-11D-A377-08		825148	89529605	26	31741											
MYH11	4629	broad.mit.edu	37	chr16	15814136	15814136	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccagggcacgttgctttcGctcgtcttccagttccgtct	3	14	10	14	4	2	0	0	0	2	0	6	0	4	0	3	1	2	5	3	1	0	4			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr16:15814136G>A	ENST00000300036.5	-	34	4934	c.4825C>T	c.(4825-4827)Cga>Tga	p.R1609*	MYH11_ENST00000452625.2_Nonsense_Mutation_p.R1616*|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_Nonsense_Mutation_p.R1616*|MYH11_ENST00000576790.2_Nonsense_Mutation_p.R1609*|NDE1_ENST00000396355.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1609					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			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						CGTTGCTTTCGCTCGTCTTCC	0.587			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				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						c.(4825-4827)Cga>Tga		myosin, heavy chain 11, smooth muscle							96	79	85					16																	15814136		2197	4300	6497	SO:0001587	stop_gained	4629				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	g.chr16:15814136G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4825C>T	16.37:g.15814136G>A	ENSP00000300036:p.Arg1609*					NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000300036.5_Nonsense_Mutation_p.R1609*|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Nonsense_Mutation_p.R1616*|MYH11_ENST00000396324.3_Nonsense_Mutation_p.R1616*|MYH11_ENST00000576790.1_Nonsense_Mutation_p.R1609*	p.R1609*	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			34	4931	-			1609					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Nonsense_Mutation	SNP	ENST00000300036.5	37	c.4825C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	44	11.271435	0.99539	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	.	.	.	5.04	3.02	0.34903	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	12.9127	0.58189	0.0:0.0:0.6791:0.3209	.	.	.	.	X	1609;1609;1616;1616;1616	.	ENSP00000300036:R1609X	R	-	1	2	MYH11	15721637	1.000000	0.71417	0.799000	0.32177	0.712000	0.41017	3.063000	0.49978	0.474000	0.27392	0.650000	0.86243	CGA		0.587	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		3	17	0	0	0	1	0	3	17					A	15814136	G	A	15814136	4	1	470	1	0	0	0	0	0	1	0	0	10031	1095	38	1	1160	1	MYH11	16	15814136	Nonsense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08	14988988	15814136	74540617	27	31742											
PDPR	55066	broad.mit.edu	37	chr16	70176575	70176575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgacatgtcctctttcacaAagtttgagataacagtaagt	13	14	7	7	0	2	2	1	2	1	1	3	3	3	2	1	0	1	2	1	0	3	5	rs2549566	byFrequency	TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr16:70176575A>G	ENST00000288050.4	+	13	2548	c.1591A>G	c.(1591-1593)Aag>Gag	p.K531E	PDPR_ENST00000568530.1_Missense_Mutation_p.K531E|PDPR_ENST00000398122.3_Missense_Mutation_p.K431E|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	531					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTCTTTCACAAAGTTTGAGAT	0.353																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(1591-1593)Aag>Gag		pyruvate dehydrogenase phosphatase regulatory subunit							145	154	151					16																	70176575		1963	4167	6130	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70176575A>G		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1591A>G	16.37:g.70176575A>G	ENSP00000288050:p.Lys531Glu					PDPR_ENST00000568530.1_Missense_Mutation_p.K531E|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Missense_Mutation_p.K431E	p.K531E	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	13	2548	+			531					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.1591A>G	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.831687	0.91036	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055	T;T	0.74842	-0.88;-0.88	4.99	4.99	0.66335	Glycine cleavage T-protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87935	0.6303	M	0.89534	3.04	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.74023	0.925;0.982	D	0.90503	0.4475	10	0.87932	D	0	.	14.1577	0.65428	1.0:0.0:0.0:0.0	rs2549566	259;531	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	E	531;431;259	ENSP00000288050:K531E;ENSP00000381190:K431E	ENSP00000205055:K259E	K	+	1	0	PDPR	68734076	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.020000	0.93667	2.005000	0.58758	0.454000	0.30748	AAG		0.353	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		4	73	0	0	0	1	0	4	73					G	70176575	A	G	70176575	3	3	470	1	0	0	0	0	1	0	0	0	11689	15	1	4	1633	4	PDPR	16	70176575	Missense_Mutation	SNP	A	TCGA-YL-A9WJ-01A-11D-A377-08	54362439	70176575	20178178	28	31743											
KRT38	8687	broad.mit.edu	37	chr17	39595066	39595066	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctcaatgtccagctcAatccggagcttctcccccag	7	9	10	15	1	3	0	2	0	1	0	6	1	5	1	4	2	2	3	4	2	2	1			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr17:39595066A>G	ENST00000246646.3	-	4	776	c.777T>C	c.(775-777)atT>atC	p.I259I		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	259	Linker 12.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TGTCCAGCTCAATCCGGAGCT	0.567																																						ENST00000246646.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(775-777)atT>atC		keratin 38							139	135	136					17																	39595066		2203	4300	6503	SO:0001819	synonymous_variant	8687					intermediate filament	structural molecule activity	g.chr17:39595066A>G	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"-", "Intermediate filaments type I, keratins (acidic)"	6456	protein-coding gene	gene with protein product		604542	"keratin, hair, acidic, 8"	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.777T>C	17.37:g.39595066A>G							p.I259I	NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN			4	776	-		Breast(137;0.000496)	259			Linker 12.|Rod.		A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	c.777T>C	CCDS11392.1																																																																																				0.567	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		4	90	0	0	0	1	0	4	90					G	39595066	A	G	39595066	2	3	470	1	0	0	0	0	0	0	0	1	8475	126	5	4		4	KRT38	17	39595066	Silent	SNP	A	TCGA-YL-A9WJ-01A-11D-A377-08		39595066	41600144	29	31744											
METRNL	284207	broad.mit.edu	37	chr17	81042876	81042876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtatctgcgctgtgcggcggGtgccgtggagtggatgtacc	4	10	18	9	4	1	0	0	0	1	0	1	2	1	2	2	4	4	3	2	4	2	2			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr17:81042876G>T	ENST00000320095.7	+	2	358	c.233G>T	c.(232-234)gGt>gTt	p.G78V	METRNL_ENST00000571814.1_5'UTR|METRNL_ENST00000570778.1_5'UTR	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	78					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TGTGCGGCGGGTGCCGTGGAG	0.642																																						ENST00000320095.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8						c.(232-234)gGt>gTt		meteorin, glial cell differentiation regulator-like							112	113	113					17																	81042876		2203	4300	6503	SO:0001583	missense	284207					extracellular region		g.chr17:81042876G>T	AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.233G>T	17.37:g.81042876G>T	ENSP00000315731:p.Gly78Val					METRNL_ENST00000571814.1_5'UTR|METRNL_ENST00000570778.1_5'UTR	p.G78V	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		2	358	+	Breast(20;0.000443)|all_neural(118;0.0779)		78					B3KSJ5|Q86VM0	Missense_Mutation	SNP	ENST00000320095.7	37	c.233G>T	CCDS32779.1	.	.	.	.	.	.	.	.	.	.	g	15.90	2.970812	0.53614	.	.	ENSG00000176845	ENST00000320095	.	.	.	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78745	-0.2084	8	.	.	.	-28.677	14.3274	0.66530	0.0:0.0:1.0:0.0	.	78	Q641Q3	METRL_HUMAN	V	78	.	.	G	+	2	0	METRNL	78636165	1.000000	0.71417	0.160000	0.22671	0.130000	0.20726	8.784000	0.91818	2.323000	0.78572	0.450000	0.29827	GGT		0.642	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1	NM_001004431		12	42	1	0	0.00010058	1	0.000117343	12	42					T	81042876	G	T	81042876	3	4	470	1	0	0	0	0	1	0	0	0	9489	1261	44	5	239	5	METRNL	17	81042876	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08	41447810	81042876	152334	30	31745											
TSHZ1	10194	broad.mit.edu	37	chr18	73000203	73000203	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccactggctggccaatgtGaagtaccagttgaggaggac	11	7	14	9	0	0	2	0	2	0	0	0	4	0	4	3	4	2	3	3	4	3	2			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr18:73000203G>A	ENST00000580243.1	+	2	3189	c.2841G>A	c.(2839-2841)gtG>gtA	p.V947V	TSHZ1_ENST00000322038.5_Silent_p.V902V			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	947					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TGGCCAATGTGAAGTACCAGT	0.522																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(2704-2706)gtG>gtA		teashirt zinc finger homeobox 1							71	60	64					18																	73000203		2203	4300	6503	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:73000203G>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2841G>A	18.37:g.73000203G>A						TSHZ1_ENST00000580243.1_Silent_p.V947V	p.V902V	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	3290	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	947					O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.2706G>A																																																																																					0.522	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		7	26	0	0	0	1	0	7	26					A	73000203	G	A	73000203	2	1	470	1	0	0	0	0	0	0	0	1	16620	1277	45	3		3	TSHZ1	18	73000203	Silent	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08		73000203	5077045	31	31746											
ZNF554	115196	broad.mit.edu	37	chr19	2833764	2833764	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagtggtataaatatgatAaagcttatcagagaagatgg	16	10	11	4	0	1	3	1	1	0	2	1	4	1	3	1	2	1	2	1	2	8	5			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr19:2833764A>T	ENST00000317243.5	+	5	729	c.531A>T	c.(529-531)atA>atT	p.I177I	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		TAAATATGATAAAGCTTATCA	0.463																																						ENST00000317243.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(529-531)atA>atT		zinc finger protein 554							77	79	79					19																	2833764		1863	4109	5972	SO:0001819	synonymous_variant	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2833764A>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"Zinc fingers, C2H2-type", "-"	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.531A>T	19.37:g.2833764A>T						ZNF554_ENST00000591265.1_3'UTR	p.I177I	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	729	+		Hepatocellular(1079;0.137)	177					Q8NAT3|Q9BWN3	Silent	SNP	ENST00000317243.5	37	c.531A>T	CCDS42462.1																																																																																				0.463	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		3	58	0	0	0	1	0	3	58					T	2833764	A	T	2833764	2	4	470	1	0	0	0	0	0	0	0	1	17982	352	13	5		5	ZNF554	19	2833764	Silent	SNP	A	TCGA-YL-A9WJ-01A-11D-A377-08		2833764	56295219	32	31747											
SHKBP1	92799	broad.mit.edu	37	chr19	41096646	41096646	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccccagcaggtggcctGacggagcaagagctgatgga	9	5	15	12	1	0	3	0	2	0	1	0	5	0	5	4	4	4	3	4	4	1	0			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr19:41096646G>T	ENST00000291842.5	+	17	1828	c.1779G>T	c.(1777-1779)ctG>ctT	p.L593L	LTBP4_ENST00000204005.9_5'Flank|SHKBP1_ENST00000600733.1_Silent_p.L568L|LTBP4_ENST00000545697.1_5'Flank	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	593					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGGTGGCCTGACGGAGCAAG	0.662																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(1777-1779)ctG>ctT		SH3KBP1 binding protein 1							57	66	63					19																	41096646		2203	4300	6503	SO:0001819	synonymous_variant	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41096646G>T	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1779G>T	19.37:g.41096646G>T						SHKBP1_ENST00000600733.1_Silent_p.L568L	p.L593L	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		17	1828	+			593					Q8N2I6|Q8WY93|Q96IB8	Silent	SNP	ENST00000291842.5	37	c.1779G>T	CCDS12560.1																																																																																				0.662	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		4	42	1	0	0.000602214	1	0.000655745	4	42					T	41096646	G	T	41096646	2	4	470	1	0	0	0	0	0	0	0	1	14284	1277	45	5		5	SHKBP1	19	41096646	Silent	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08	38262882	41096646	18032337	33	31748											
MED25	81857	broad.mit.edu	37	chr19	50331794	50331794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgacttcaagaagatgCgcgagcagatgtgagtgccc	11	9	13	8	2	1	6	1	3	0	3	1	7	1	6	1	0	3	1	1	0	2	2	rs137859678		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr19:50331794C>T	ENST00000312865.6	+	4	447	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	132	Interaction with the Mediator complex.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			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)		CAAGAAGATGCGCGAGCAGAT	0.622																																					GBM(51;894 1657 37868)	ENST00000312865.6																			0				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						c.(394-396)Cgc>Tgc		mediator complex subunit 25		C	CYS/ARG	0,4406		0,0,2203	74	68	70		394	2.3	1	19	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	missense	MED25	NM_030973.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	132/748	50331794	1,13005	2203	4300	6503	SO:0001583	missense	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50331794C>T	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.394C>T	19.37:g.50331794C>T	ENSP00000326767:p.Arg132Cys					MED25_ENST00000538643.1_Intron	p.R132C	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	4	447	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	132			Interaction with the Mediator complex.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	c.394C>T	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654900	0.67472	0.0	1.16E-4	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000542221;ENST00000544580	T	0.21031	2.03	4.7	2.32	0.28847	.	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.38564	-0.9655	10	0.87932	D	0	.	10.5162	0.44892	0.537:0.4629:0.0:0.0	.	132	Q71SY5	MED25_HUMAN	C	132	ENSP00000326767:R132C	ENSP00000326767:R132C	R	+	1	0	MED25	55023606	1.000000	0.71417	0.994000	0.49952	0.835000	0.47333	1.767000	0.38501	1.270000	0.44297	0.655000	0.94253	CGC		0.622	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		3	62	0	0	0	1	0	3	62					T	50331794	C	T	50331794	3	4	470	1	0	0	0	0	1	0	0	0	9443	768	27	1	408	1	MED25	19	50331794	Missense_Mutation	SNP	C	TCGA-YL-A9WJ-01A-11D-A377-08	9235148	50331794	8797189	34	31749											
ARSF	416	broad.mit.edu	37	chrX	2990116	2990116	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcactcttgaacacatgcCaggcacacagggtgcatgac	11	7	11	12	0	1	2	0	2	1	0	1	2	1	2	1	2	4	3	1	2	1	1			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chrX:2990116C>A	ENST00000381127.1	+	3	282	c.61C>A	c.(61-63)Cag>Aag	p.Q21K	ARSF_ENST00000537104.1_Missense_Mutation_p.Q21K|ARSF_ENST00000359361.2_Missense_Mutation_p.Q21K	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	21				CQAHRVHDDK -> WPGHTGCMTTR (in Ref. 1; CAA66462). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAACACATGCCAGGCACACAG	0.493																																						ENST00000381127.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(61-63)Cag>Aag		arylsulfatase F							210	159	177					X																	2990116		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:2990116C>A	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.61C>A	X.37:g.2990116C>A	ENSP00000370519:p.Gln21Lys					ARSF_ENST00000359361.2_Missense_Mutation_p.Q21K|ARSF_ENST00000537104.1_Missense_Mutation_p.Q21K	p.Q21K	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN			3	282	+		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)	21	CQAHRVHDDK -> WPGHTGCMTTR (in Ref. 1; CAA66462).				Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.61C>A	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	c	0.547	-0.851281	0.02651	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.95724	-3.79;-3.79;-3.79	2.46	-1.33	0.09172	.	2.298270	0.02908	U	0.136388	D	0.87822	0.6274	N	0.20574	0.59	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.79836	-0.1635	10	0.07482	T	0.82	.	2.2587	0.04061	0.165:0.3773:0.3263:0.1315	.	21	P54793	ARSF_HUMAN	K	21	ENSP00000370519:Q21K;ENSP00000445594:Q21K;ENSP00000352319:Q21K	ENSP00000352319:Q21K	Q	+	1	0	ARSF	3000116	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.958000	0.01519	0.078000	0.16900	0.415000	0.27848	CAG		0.493	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			10	12	1	0	0.000442599	1	0.000492895	10	12					A	2990116	C	A	2990116	3	1	470	1	0	0	0	0	1	0	0	0	991	595	21	5	67	5	ARSF	23	2990116	Missense_Mutation	SNP	C	TCGA-YL-A9WJ-01A-11D-A377-08		2990116	152280444	35	31750											
ODZ1	10178	broad.mit.edu	37	chrX	123514728	123514728	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccgtctagtcctcccattCaacacagaagtcatctggga	12	9	7	13	1	4	1	2	0	2	1	6	2	6	2	3	1	2	0	3	1	4	2			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chrX:123514728C>T	ENST00000371130.3	-	31	7899	c.7836G>A	c.(7834-7836)ttG>ttA	p.L2612L	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Silent_p.L2619L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2612					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCCTCCCATTCAACACAGAAG	0.522																																						ENST00000422452.2																			0											c.(7855-7857)ttG>ttA		teneurin transmembrane protein 1							103	80	88					X																	123514728		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123514728C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7836G>A	X.37:g.123514728C>T						TENM1_ENST00000371130.3_Silent_p.L2612L|STAG2_ENST00000469481.1_Intron	p.L2619L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					32	7920	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.7857G>A	CCDS14609.1																																																																																				0.522	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		15	20	0	0	0	1	0	15	20					T	123514728	C	T	123514728	2	4	470	1	0	0	0	0	0	0	0	1	10834	825	29	3		3	ODZ1	23	123514728	Silent	SNP	C	TCGA-YL-A9WJ-01A-11D-A377-08	120524612	123514728	31755832	36	31751											
SPAG17	200162	broad.mit.edu	37	chr1	118567994	118567994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctgggggtagctctgaCggaccatgatgtcccaggtg	6	9	14	12	1	2	2	0	2	2	0	3	3	3	3	3	4	1	2	3	4	1	1	rs202113364		TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr1:118567994C>T	ENST00000336338.5	-	27	3841	c.3776G>A	c.(3775-3777)cGt>cAt	p.R1259H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1259						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				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)		GTAGCTCTGACGGACCATGAT	0.483																																						ENST00000336338.5																			0				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						c.(3775-3777)cGt>cAt		sperm associated antigen 17		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	94	93	94		3776	5.7	1	1		94	0,8600		0,0,4300	no	missense	SPAG17	NM_206996.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1259/2224	118567994	1,13005	2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118567994C>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3776G>A	1.37:g.118567994C>T	ENSP00000337804:p.Arg1259His						p.R1259H	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	27	3841	-	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)	1259					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.3776G>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890209	0.91889	2.27E-4	0.0	ENSG00000155761	ENST00000336338	T	0.37584	1.19	5.73	5.73	0.89815	.	0.261705	0.38217	N	0.001768	T	0.53222	0.1783	M	0.68952	2.095	0.36377	D	0.861694	D	0.89917	1.0	D	0.91635	0.999	T	0.57376	-0.7822	10	0.87932	D	0	.	17.6657	0.88202	0.0:1.0:0.0:0.0	.	1259	Q6Q759	SPG17_HUMAN	H	1259	ENSP00000337804:R1259H	ENSP00000337804:R1259H	R	-	2	0	SPAG17	118369517	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.413000	0.59795	2.711000	0.92665	0.655000	0.94253	CGT		0.483	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		4	96	0	0	0	1	0	4	96					T	118567994	C	T	118567994	3	4	471	1	0	0	0	0	1	0	0	0	14979	536	19	1	2983	1	SPAG17	1	118567994	Missense_Mutation	SNP	C	TCGA-YL-A9WK-01A-11D-A377-08		118567994	130682627	1	31752											
FMO3	2328	broad.mit.edu	37	chr1	171086373	171086373	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccatggaagtttattttGgcccttgtagtccctaccag	7	14	10	10	0	0	0	0	0	0	0	1	1	1	1	4	3	1	2	4	3	4	7	rs550307887		TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr1:171086373G>C	ENST00000367755.4	+	9	1501	c.1390G>C	c.(1390-1392)Ggc>Cgc	p.G464R	FMO3_ENST00000392085.2_Missense_Mutation_p.G464R|FMO3_ENST00000538429.1_Missense_Mutation_p.G401R|FMO3_ENST00000542847.1_Missense_Mutation_p.G444R	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	464					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			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)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	AGTTTATTTTGGCCCTTGTAG	0.517													G|||	1	0.000199681	8e-04	0	5008	,	,		17447	0		0	False		,,,				2504	0					ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(1390-1392)Ggc>Cgc		flavin containing monooxygenase 3							91	83	86					1																	171086373		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171086373G>C	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1390G>C	1.37:g.171086373G>C	ENSP00000356729:p.Gly464Arg					FMO3_ENST00000392085.2_Missense_Mutation_p.G464R|FMO3_ENST00000538429.1_Missense_Mutation_p.G401R|FMO3_ENST00000542847.1_Missense_Mutation_p.G444R	p.G464R	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			9	1501	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		464					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.1390G>C	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911295	0.92178	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.86838	0.6029	H	0.96365	3.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.78314	0.983;0.991;0.991	D	0.90686	0.4609	10	0.87932	D	0	-17.8459	19.0456	0.93018	0.0:0.0:1.0:0.0	.	401;444;464	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	R	464;464;444;401	ENSP00000356729:G464R;ENSP00000375935:G464R;ENSP00000444073:G444R;ENSP00000439500:G401R	ENSP00000356729:G464R	G	+	1	0	FMO3	169352997	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.864000	0.99589	2.567000	0.86603	0.655000	0.94253	GGC		0.517	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		7	47	0	0	0	1	0	7	47					C	171086373	G	C	171086373	3	2	471	1	0	0	0	0	1	0	0	0	5956	1348	47	5	1420	5	FMO3	1	171086373	Missense_Mutation	SNP	G	TCGA-YL-A9WK-01A-11D-A377-08	52518379	171086373	78164248	2	31753											
C2orf16	84226	broad.mit.edu	37	chr2	27799480	27799480	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaacagcaaggtataaattAtcaagagttgacttcaggat	16	10	8	7	0	2	2	2	1	0	1	2	3	2	3	1	2	2	3	1	2	7	5			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr2:27799480A>T	ENST00000408964.2	+	1	92	c.41A>T	c.(40-42)tAt>tTt	p.Y14F		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	14						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GGTATAAATTATCAAGAGTTG	0.448																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(40-42)tAt>tTt		chromosome 2 open reading frame 16							65	62	63					2																	27799480		1904	4117	6021	SO:0001583	missense	84226							g.chr2:27799480A>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.41A>T	2.37:g.27799480A>T	ENSP00000386190:p.Tyr14Phe						p.Y14F	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	92	+	Acute lymphoblastic leukemia(172;0.155)		14					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.41A>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	A	0.065	-1.214210	0.01555	.	.	ENSG00000221843	ENST00000408964	T	0.05081	3.5	3.6	-0.718	0.11205	.	.	.	.	.	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	1	P	0.45176	0.852	B	0.31495	0.131	T	0.29150	-1.0021	9	0.02654	T	1	.	3.6253	0.08111	0.3644:0.1901:0.4455:0.0	.	14	Q68DN1	CB016_HUMAN	F	14	ENSP00000386190:Y14F	ENSP00000386190:Y14F	Y	+	2	0	C2orf16	27652984	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.191000	0.09601	-0.150000	0.11195	-1.252000	0.01501	TAT		0.448	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		5	57	0	0	0	1	0	5	57					T	27799480	A	T	27799480	3	4	471	1	0	0	0	0	1	0	0	0	2157	449	16	5	43	5	C2orf16	2	27799480	Missense_Mutation	SNP	A	TCGA-YL-A9WK-01A-11D-A377-08		27799480	215399893	3	31754											
ALPPL2	251	broad.mit.edu	37	chr2	233272008	233272008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttcagggatgggggtgtCtacggtgacagctgccagga	7	9	16	9	1	2	1	1	1	1	0	3	3	3	3	2	5	3	1	2	5	1	2			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr2:233272008C>G	ENST00000295453.3	+	3	249	c.197C>G	c.(196-198)tCt>tGt	p.S66C		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	66					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	ATGGGGGTGTCTACGGTGACA	0.637																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(196-198)tCt>tGt		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						94	93	93					2																	233272008		2203	4300	6503	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233272008C>G	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.197C>G	2.37:g.233272008C>G	ENSP00000295453:p.Ser66Cys						p.S66C	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		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)	3	249	+		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)	66					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.197C>G	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139786	0.37728	.	.	ENSG00000163286	ENST00000295453	D	0.97480	-4.4	1.98	1.98	0.26296	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.364082	0.32093	N	0.006593	D	0.98473	0.9491	M	0.93241	3.395	0.29753	N	0.836199	D	0.71674	0.998	D	0.65684	0.937	D	0.95017	0.8157	10	0.62326	D	0.03	.	12.9807	0.58562	0.0:1.0:0.0:0.0	.	66	P10696	PPBN_HUMAN	C	66	ENSP00000295453:S66C	ENSP00000295453:S66C	S	+	2	0	ALPPL2	232980252	0.993000	0.37304	0.837000	0.33122	0.599000	0.36880	5.296000	0.65698	1.410000	0.46936	0.205000	0.17691	TCT		0.637	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		3	54	0	0	0	1	0	3	54					G	233272008	C	G	233272008	3	3	471	1	0	0	0	0	1	0	0	0	549	913	32	5	207	5	ALPPL2	2	233272008	Missense_Mutation	SNP	C	TCGA-YL-A9WK-01A-11D-A377-08	205472528	233272008	9927365	4	31755											
IQCA1	79781	broad.mit.edu	37	chr2	237402438	237402438	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtatctattccgctgtcCgctaatatttgagcaagaat	11	14	8	8	2	1	2	0	1	1	1	3	3	3	2	2	0	1	4	2	0	6	6			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr2:237402438C>T	ENST00000409907.3	-	3	703	c.429G>A	c.(427-429)gcG>gcA	p.A143A	IQCA1_ENST00000309507.5_Silent_p.A139A|IQCA1_ENST00000431676.2_Silent_p.A143A	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	143							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTCCGCTGTCCGCTAATATTT	0.333																																						ENST00000409907.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.(427-429)gcG>gcA		IQ motif containing with AAA domain 1							112	101	104					2																	237402438		1820	4084	5904	SO:0001819	synonymous_variant	79781						ATP binding	g.chr2:237402438C>T	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.429G>A	2.37:g.237402438C>T						IQCA1_ENST00000431676.2_Silent_p.A143A|IQCA1_ENST00000309507.5_Silent_p.A139A	p.A143A			Q86XH1	IQCA1_HUMAN			3	703	-			143					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Silent	SNP	ENST00000409907.3	37	c.429G>A	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	C	4.215	0.038793	0.08148	.	.	ENSG00000132321	ENST00000418802	.	.	.	5.05	-10.1	0.00402	.	.	.	.	.	T	0.14874	0.0359	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.10132	-1.0643	4	.	.	.	.	2.3541	0.04291	0.4067:0.2883:0.0897:0.2153	.	.	.	.	R	162	.	.	G	-	1	0	IQCA1	237067177	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.717000	0.00385	-2.900000	0.00312	-1.011000	0.02470	GGA		0.333	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		4	2	0	0	0	1	0	4	2					T	237402438	C	T	237402438	2	4	471	1	0	0	0	0	0	0	0	1	7802	639	23	2		2	IQCA1	2	237402438	Silent	SNP	C	TCGA-YL-A9WK-01A-11D-A377-08	4130430	237402438	5796935	5	31756											
ADAMTS9	56999	broad.mit.edu	37	chr3	64666958	64666958	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgatgtggggtttgttttGttcctcttcatcttcttgtt	4	22	9	6	0	4	1	1	1	3	0	5	1	5	1	1	2	0	4	1	2	1	8			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr3:64666958G>C	ENST00000498707.1	-	3	940	c.598C>G	c.(598-600)Caa>Gaa	p.Q200E	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.Q200E|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Q200E	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	200					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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)		GGTTTGTTTTGTTCCTCTTCA	0.463																																						ENST00000498707.1																			0				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						c.(598-600)Caa>Gaa		ADAM metallopeptidase with thrombospondin type 1 motif, 9							221	200	207					3																	64666958		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64666958G>C	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.598C>G	3.37:g.64666958G>C	ENSP00000418735:p.Gln200Glu					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Q200E|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.Q200E	p.Q200E	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	3	940	-		Lung NSC(201;0.00682)	200					A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.598C>G	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094619	0.36952	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	T;T;T	0.05925	3.37;3.37;3.37	6.04	6.04	0.98038	Peptidase M12B, propeptide (1);	0.059992	0.64402	D	0.000003	T	0.05364	0.0142	N	0.05078	-0.115	0.47476	D	0.999439	B;B;B;B	0.23735	0.084;0.068;0.09;0.041	B;B;B;B	0.26614	0.071;0.062;0.054;0.071	T	0.53422	-0.8441	10	0.37606	T	0.19	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	200;200;200;200	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	E	200	ENSP00000295903:Q200E;ENSP00000418735:Q200E;ENSP00000419217:Q200E	ENSP00000295903:Q200E	Q	-	1	0	ADAMTS9	64641998	1.000000	0.71417	0.927000	0.36925	0.140000	0.21249	7.080000	0.76837	2.873000	0.98535	0.561000	0.74099	CAA		0.463	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			16	32	0	0	0	1	0	16	32					C	64666958	G	C	64666958	3	2	471	1	0	0	0	0	1	0	0	0	273	1386	48	5	5357	5	ADAMTS9	3	64666958	Missense_Mutation	SNP	G	TCGA-YL-A9WK-01A-11D-A377-08		64666958	133355472	6	31757											
KALRN	8997	broad.mit.edu	37	chr3	124044870	124044870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatgtccgtggcttcccGcctctctgaggccggtcatt	4	12	10	15	3	3	1	2	1	1	0	6	1	5	1	4	3	0	1	4	3	0	2			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr3:124044870G>A	ENST00000240874.3	+	7	1287	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	KALRN_ENST00000460856.1_Missense_Mutation_p.R377H|KALRN_ENST00000360013.3_Missense_Mutation_p.R377H	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	377					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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						GTGGCTTCCCGCCTCTCTGAG	0.547																																						ENST00000360013.3																			0				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						c.(1129-1131)cGc>cAc		kalirin, RhoGEF kinase							99	92	94					3																	124044870		2203	4300	6503	SO:0001583	missense	8997				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	g.chr3:124044870G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1130G>A	3.37:g.124044870G>A	ENSP00000240874:p.Arg377His					KALRN_ENST00000460856.1_Missense_Mutation_p.R377H|KALRN_ENST00000240874.3_Missense_Mutation_p.R377H	p.R377H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			7	1257	+			377					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1130G>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.249068|5.249068	0.95305|0.95305	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.51817	.|0.69;0.69;0.69	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	.|0.076223	.|0.48286	.|D	.|0.000199	T|T	0.69415|0.69415	0.3108|0.3108	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.997;0.999	T|T	0.72469|0.72469	-0.4284|-0.4284	5|10	.|0.56958	.|D	.|0.05	.|.	18.0542|18.0542	0.89358|0.89358	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|377;377;377	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	T|H	355|377	.|ENSP00000418611:R377H;ENSP00000240874:R377H;ENSP00000353109:R377H	.|ENSP00000240874:R377H	A|R	+|+	1|2	0|0	KALRN|KALRN	125527560|125527560	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	9.601000|9.601000	0.98297|0.98297	2.564000|2.564000	0.86499|0.86499	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.547	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		10	54	0	0	0	1	0	10	54					A	124044870	G	A	124044870	3	1	471	1	0	0	0	0	1	0	0	0	7975	1087	38	1	1156	1	KALRN	3	124044870	Missense_Mutation	SNP	G	TCGA-YL-A9WK-01A-11D-A377-08	59377912	124044870	73977560	7	31758											
HGFAC	3083	broad.mit.edu	37	chr4	3446102	3446102	+	Frame_Shift_Del	DEL	C	C	-																															gaccgctgggcccgcgtgcgCcagggccacgtggaacagtg																										TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr4:3446102delC	ENST00000382774.3	+	6	778	c.663delC	c.(661-663)cgcfs	p.R221fs	HGFAC_ENST00000511533.1_Frame_Shift_Del_p.R221fs	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	221	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			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)		CCCGCGTGCGCCAGGGCCACG	0.672																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(661-663)cgfs		HGF activator							13	15	14					4																	3446102		2185	4283	6468	SO:0001589	frameshift_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3446102delC	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.663delC	4.37:g.3446102delC	ENSP00000372224:p.Arg221fs					HGFAC_ENST00000511533.1_Frame_Shift_Del_p.R221fs	p.R221fs	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	6	778	+			221			Fibronectin type-I.		Q14726|Q2M1W7|Q53X47	Frame_Shift_Del	DEL	ENST00000382774.3	37	c.663delC	CCDS3369.1																																																																																				0.672	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			2	4						2	4	---	---	---	---	-	3446102	C	-	3446102	7	5	471	1	0	1	0	1	0	0	0	0	7086	726	26	0	685	0	HGFAC	4	3446102	Frame_Shift_Del	DEL	C	TCGA-YL-A9WK-01A-11D-A377-08		3446102	187708174	8	31759											
USP53	54532	broad.mit.edu	37	chr4	120192824	120192824	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagtgaaagtgaaaaaagAcagcatagtccaagacataa	20	8	8	5	0	0	4	0	2	0	2	1	4	1	4	1	0	1	1	1	0	8	4			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr4:120192824A>T	ENST00000274030.6	+	16	2988	c.1809A>T	c.(1807-1809)agA>agT	p.R603S	USP53_ENST00000450251.1_Missense_Mutation_p.R603S	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GTGAAAAAAGACAGCATAGTC	0.363																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(1807-1809)agA>agT		ubiquitin specific peptidase 53							63	60	61					4																	120192824		1838	4079	5917	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120192824A>T	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"Ubiquitin-specific peptidases"	29255	protein-coding gene	gene with protein product			"ubiquitin specific protease 53"			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1809A>T	4.37:g.120192824A>T	ENSP00000274030:p.Arg603Ser					USP53_ENST00000274030.6_Missense_Mutation_p.R603S	p.R603S			Q70EK8	UBP53_HUMAN			12	2353	+			603						Missense_Mutation	SNP	ENST00000274030.6	37	c.1809A>T	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.704277	0.48412	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.25085	1.82;1.82	5.58	0.832	0.18867	.	0.340991	0.30118	N	0.010369	T	0.20414	0.0491	L	0.55103	1.725	0.23238	N	0.998064	B	0.31077	0.307	B	0.24155	0.051	T	0.13229	-1.0517	10	0.46703	T	0.11	-9.1608	9.6592	0.39945	0.4792:0.0:0.5208:0.0	.	603	Q70EK8	UBP53_HUMAN	S	603	ENSP00000274030:R603S;ENSP00000409906:R603S	ENSP00000274030:R603S	R	+	3	2	USP53	120412272	0.164000	0.22935	0.998000	0.56505	0.968000	0.65278	0.115000	0.15540	0.303000	0.22785	-0.371000	0.07208	AGA		0.363	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		14	29	0	0	0	1	0	14	29					T	120192824	A	T	120192824	3	4	471	1	0	0	0	0	1	0	0	0	17081	272	10	5	1855	5	USP53	4	120192824	Missense_Mutation	SNP	A	TCGA-YL-A9WK-01A-11D-A377-08	116746722	120192824	70961452	9	31760											
HSD17B4	3295	broad.mit.edu	37	chr5	118865641	118865641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatatgtggatcttgcacCaacatctggtacttcagcta	10	13	8	10	0	3	0	1	0	2	0	3	1	3	1	1	2	5	4	1	2	4	5			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr5:118865641C>T	ENST00000256216.6	+	21	1953	c.1820C>T	c.(1819-1821)cCa>cTa	p.P607L	HSD17B4_ENST00000414835.2_Missense_Mutation_p.P467L|HSD17B4_ENST00000510025.1_Missense_Mutation_p.P583L|HSD17B4_ENST00000504811.1_Missense_Mutation_p.P632L|HSD17B4_ENST00000515320.1_Missense_Mutation_p.P589L|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000513628.1_Missense_Mutation_p.P470L|HSD17B4_ENST00000509514.1_Missense_Mutation_p.P345L	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	607	Enoyl-CoA hydratase 2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			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)		GATCTTGCACCAACATCTGGT	0.363																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.(1894-1896)cCa>cTa		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						105	99	101					5																	118865641		2202	4300	6502	SO:0001583	missense	3295				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	g.chr5:118865641C>T		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1820C>T	5.37:g.118865641C>T	ENSP00000256216:p.Pro607Leu					HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.P589L|HSD17B4_ENST00000510025.1_Missense_Mutation_p.P583L|HSD17B4_ENST00000513628.1_Missense_Mutation_p.P470L|HSD17B4_ENST00000256216.6_Missense_Mutation_p.P607L|HSD17B4_ENST00000509514.1_Missense_Mutation_p.P345L|HSD17B4_ENST00000414835.2_Missense_Mutation_p.P467L	p.P632L	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	22	2079	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	607			SCP2.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.1895C>T	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644858	0.29246	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	D;T;T;T;D;T;T	0.82081	-1.57;-1.25;-1.21;-1.24;-1.54;-1.41;-0.9	5.82	4.94	0.65067	.	0.390236	0.29080	N	0.013205	D	0.84853	0.5564	M	0.81497	2.545	0.58432	D	0.999997	P;P;B;B;B	0.49090	0.919;0.514;0.146;0.329;0.061	B;B;B;B;B	0.43623	0.425;0.122;0.05;0.148;0.041	D	0.85519	0.1202	10	0.41790	T	0.15	-3.8593	15.8177	0.78615	0.0:0.8632:0.1368:0.0	.	632;589;583;345;607	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	L	607;589;583;632;467;470;345	ENSP00000256216:P607L;ENSP00000424613:P589L;ENSP00000424940:P583L;ENSP00000420914:P632L;ENSP00000411960:P467L;ENSP00000425993:P470L;ENSP00000426272:P345L	ENSP00000256216:P607L	P	+	2	0	HSD17B4	118893540	0.015000	0.18098	0.207000	0.23584	0.076000	0.17211	2.495000	0.45337	1.449000	0.47699	-0.274000	0.10170	CCA		0.363	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		10	117	0	0	0	1	0	10	117					T	118865641	C	T	118865641	3	4	471	1	0	0	0	0	1	0	0	0	7386	594	21	3	1902	3	HSD17B4	5	118865641	Missense_Mutation	SNP	C	TCGA-YL-A9WK-01A-11D-A377-08		118865641	62049619	10	31761											
PCDHA5	56143	broad.mit.edu	37	chr5	140203514	140203514	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacgctgctgctgtacacCgcgctgcggtgctcggcgca	4	8	13	16	6	1	0	1	0	0	0	2	0	1	0	1	2	5	7	1	2	1	1	rs370219671		TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr5:140203514C>T	ENST00000529859.1	+	1	2154	c.2154C>T	c.(2152-2154)acC>acT	p.T718T	PCDHA5_ENST00000378126.3_Silent_p.T718T|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.T718T	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	718					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGTACACCGCGCTGCGGT	0.672																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(2152-2154)acC>acT				C	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	54	52	53		,,,,2154,,2154	0.1	0.9	5		53	0,8598		0,0,4299	no	intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,,,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,	,,,,718/937,,718/817	140203514	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140203514C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2154C>T	5.37:g.140203514C>T						PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.T718T|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.T718T	p.T718T	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2154	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.2154C>T	CCDS54917.1																																																																																				0.672	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		7	51	0	0	0	1	0	7	51					T	140203514	C	T	140203514	2	4	471	1	0	0	0	0	0	0	0	1	11527	639	23	2		2	PCDHA5	5	140203514	Silent	SNP	C	TCGA-YL-A9WK-01A-11D-A377-08	21337873	140203514	40711746	11	31762											
PCDHB6	56130	broad.mit.edu	37	chr5	140530650	140530650	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agccagagatttagatgcagGatcgtttgggaaggtatctt	11	12	13	5	1	1	2	0	0	1	2	2	5	1	4	1	3	2	3	1	3	3	5			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr5:140530650G>C	ENST00000231136.1	+	1	812	c.812G>C	c.(811-813)gGa>gCa	p.G271A	PCDHB6_ENST00000543635.1_Missense_Mutation_p.G135A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	271	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			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)			TTAGATGCAGGATCGTTTGGG	0.498																																						ENST00000231136.1																			0				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						c.(811-813)gGa>gCa									69	72	71					5																	140530650		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530650G>C	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.812G>C	5.37:g.140530650G>C	ENSP00000231136:p.Gly271Ala					PCDHB6_ENST00000543635.1_Missense_Mutation_p.G135A	p.G271A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	812	+			271			Cadherin 3.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.812G>C	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431951	0.83776	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.66815	-0.23;-0.23	4.85	4.85	0.62838	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.84520	0.5490	M	0.86864	2.845	0.53005	D	0.999961	D	0.89917	1.0	D	0.97110	1.0	D	0.87699	0.2559	9	0.87932	D	0	.	18.3285	0.90261	0.0:0.0:1.0:0.0	.	271	Q9Y5E3	PCDB6_HUMAN	A	135;271;56	ENSP00000438466:G135A;ENSP00000231136:G271A	ENSP00000231136:G271A	G	+	2	0	PCDHB6	140510834	1.000000	0.71417	0.953000	0.39169	0.954000	0.61252	7.976000	0.88070	2.394000	0.81467	0.561000	0.74099	GGA		0.498	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		5	67	0	0	0	1	0	5	67					C	140530650	G	C	140530650	3	2	471	1	0	0	0	0	1	0	0	0	11546	1174	41	5	814	5	PCDHB6	5	140530650	Missense_Mutation	SNP	G	TCGA-YL-A9WK-01A-11D-A377-08	327136	140530650	40384610	12	31763											
SOX30	11063	broad.mit.edu	37	chr5	157078493	157078493	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggcttttgcctgccccGccttgcatcgagtctctcat	3	12	10	16	3	2	0	1	0	1	0	4	1	2	0	5	1	3	2	5	1	0	3	rs371262922		TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr5:157078493G>A	ENST00000265007.6	-	1	935	c.594C>T	c.(592-594)ggC>ggT	p.G198G	SOX30_ENST00000311371.5_Silent_p.G198G|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	198					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	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)			TGCCTGCCCCGCCTTGCATCG	0.657																																					Esophageal Squamous(31;525 799 19355 21125 41744)	ENST00000265007.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(592-594)ggC>ggT		SRY (sex determining region Y)-box 30							64	75	71					5																	157078493		2197	4289	6486	SO:0001819	synonymous_variant	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157078493G>A	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.594C>T	5.37:g.157078493G>A						SOX30_ENST00000311371.5_Silent_p.G198G|SOX30_ENST00000519442.1_Intron	p.G198G	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	935	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	198					O94995|Q8IYX6	Silent	SNP	ENST00000265007.6	37	c.594C>T	CCDS4339.1																																																																																				0.657	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		16	104	0	0	0	1	0	16	104					A	157078493	G	A	157078493	2	1	471	1	0	0	0	0	0	0	0	1	14952	1074	38	1		1	SOX30	5	157078493	Silent	SNP	G	TCGA-YL-A9WK-01A-11D-A377-08	16547843	157078493	23836767	13	31764											
GABRA6	2559	broad.mit.edu	37	chr5	161119123	161119123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaatcttcagacacagaagGccaaaaggaaggcacagttt	16	6	9	10	0	2	2	1	0	1	2	2	3	2	3	2	3	0	2	2	3	5	2			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr5:161119123G>T	ENST00000274545.5	+	8	1436	c.1003G>T	c.(1003-1005)Gcc>Tcc	p.A335S	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.A325S			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	335					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GACACAGAAGGCCAAAAGGAA	0.433										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(973-975)Gcc>Tcc		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						163	140	148					5																	161119123		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161119123G>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1003G>T	5.37:g.161119123G>T	ENSP00000274545:p.Ala335Ser	TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Missense_Mutation_p.A335S	p.A325S	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1215	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	335					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.973G>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	9.428	1.084717	0.20309	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.85773	-2.03;-2.03	5.04	3.18	0.36537	Neurotransmitter-gated ion-channel transmembrane domain (2);	4.873430	0.00839	N	0.001738	T	0.80869	0.4706	L	0.51853	1.615	0.38271	D	0.942149	B	0.02656	0.0	B	0.15052	0.012	T	0.60707	-0.7210	10	0.09843	T	0.71	.	6.3936	0.21601	0.1515:0.0:0.7019:0.1466	.	335	Q16445	GBRA6_HUMAN	S	335;325	ENSP00000274545:A335S;ENSP00000430527:A325S	ENSP00000274545:A335S	A	+	1	0	GABRA6	161051701	1.000000	0.71417	0.994000	0.49952	0.697000	0.40408	3.099000	0.50267	1.060000	0.40578	0.557000	0.71058	GCC		0.433	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			5	109	1	0	0.000602214	1	0.000634476	5	109					T	161119123	G	T	161119123	3	4	471	1	0	0	0	0	1	0	0	0	6165	1203	42	5	1033	5	GABRA6	5	161119123	Missense_Mutation	SNP	G	TCGA-YL-A9WK-01A-11D-A377-08	4040630	161119123	19796137	14	31765											
SNRNP48	154007	broad.mit.edu	37	chr6	7601689	7601689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaggagacaaagaaaaagcGctctgattctcaaattattg	16	10	9	6	1	2	4	1	2	2	2	3	5	2	4	0	1	1	1	0	1	5	3			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr6:7601689G>T	ENST00000342415.5	+	5	586	c.527G>T	c.(526-528)cGc>cTc	p.R176L		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	176					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AAGAAAAAGCGCTCTGATTCT	0.388																																						ENST00000342415.5																			0				kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(526-528)cGc>cTc		small nuclear ribonucleoprotein 48kDa (U11/U12)							92	90	91					6																	7601689		2203	4300	6503	SO:0001583	missense	154007				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	g.chr6:7601689G>T	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"U11/U12 snRNP 48K"		"chromosome 6 open reading frame 151"	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.527G>T	6.37:g.7601689G>T	ENSP00000339834:p.Arg176Leu						p.R176L	NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN			5	586	+			176					A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	ENST00000342415.5	37	c.527G>T	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357034	0.82243	.	.	ENSG00000168566	ENST00000342415	T	0.34072	1.38	5.95	4.17	0.49024	.	0.322180	0.37437	N	0.002082	T	0.22475	0.0542	L	0.41710	1.295	0.30746	N	0.745682	D	0.63046	0.992	P	0.52267	0.694	T	0.09079	-1.0691	10	0.66056	D	0.02	-2.7689	7.8021	0.29180	0.2486:0.0:0.7514:0.0	.	176	Q6IEG0	SNR48_HUMAN	L	176	ENSP00000339834:R176L	ENSP00000339834:R176L	R	+	2	0	SNRNP48	7546688	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	2.210000	0.42816	0.858000	0.35431	0.491000	0.48974	CGC		0.388	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		5	86	1	0	3.59834e-05	1	4.00569e-05	5	86					T	7601689	G	T	7601689	3	4	471	1	0	0	0	0	1	0	0	0	14857	1087	38	5	545	5	SNRNP48	6	7601689	Missense_Mutation	SNP	G	TCGA-YL-A9WK-01A-11D-A377-08		7601689	163513378	15	31766											
TBC1D22B	55633	broad.mit.edu	37	chr6	37247120	37247120	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcaacacagttcctctgAagaataagaaggcctccagt	15	8	8	10	0	2	3	1	1	1	2	4	3	4	3	3	1	1	1	3	1	6	2			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr6:37247120A>G	ENST00000373491.3	+	3	300	c.154A>G	c.(154-156)Aag>Gag	p.K52E		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	52							Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AGTTCCTCTGAAGAATAAGAA	0.428																																						ENST00000373491.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15						c.(154-156)Aag>Gag		TBC1 domain family, member 22B							133	127	129					6																	37247120		2203	4300	6503	SO:0001583	missense	55633					intracellular	Rab GTPase activator activity	g.chr6:37247120A>G	AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 197"	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.154A>G	6.37:g.37247120A>G	ENSP00000362590:p.Lys52Glu						p.K52E	NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		3	300	+			52					A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Missense_Mutation	SNP	ENST00000373491.3	37	c.154A>G	CCDS4832.1	.	.	.	.	.	.	.	.	.	.	A	19.66	3.868315	0.72065	.	.	ENSG00000065491	ENST00000373491	D	0.88124	-2.34	5.56	5.56	0.83823	.	0.044610	0.85682	D	0.000000	D	0.87613	0.6221	M	0.75777	2.31	0.58432	D	0.999999	P	0.51449	0.945	P	0.55545	0.778	D	0.85914	0.1442	10	0.15066	T	0.55	.	14.9786	0.71296	1.0:0.0:0.0:0.0	.	52	Q9NU19	TB22B_HUMAN	E	52	ENSP00000362590:K52E	ENSP00000362590:K52E	K	+	1	0	TBC1D22B	37355098	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	8.905000	0.92613	2.232000	0.73038	0.533000	0.62120	AAG		0.428	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		4	130	0	0	0	1	0	4	130					G	37247120	A	G	37247120	3	3	471	1	0	0	0	0	1	0	0	0	15609	247	9	4	164	4	TBC1D22B	6	37247120	Missense_Mutation	SNP	A	TCGA-YL-A9WK-01A-11D-A377-08	29645431	37247120	133867947	16	31767											
KCNQ5	56479	broad.mit.edu	37	chr6	73787590	73787590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagttttctacatatgcaGatgctctctggtggggcaca	10	12	11	8	0	2	2	0	0	2	2	3	2	2	2	0	3	3	4	0	3	3	4			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr6:73787590G>A	ENST00000370398.1	+	5	1007	c.898G>A	c.(898-900)Gat>Aat	p.D300N	KCNQ5_ENST00000403813.2_Missense_Mutation_p.D300N|KCNQ5_ENST00000370392.1_Missense_Mutation_p.D300N|KCNQ5_ENST00000414165.2_Missense_Mutation_p.D300N|KCNQ5_ENST00000342056.2_Missense_Mutation_p.D300N|KCNQ5_ENST00000355194.4_Missense_Mutation_p.D300N|KCNQ5_ENST00000402622.2_Missense_Mutation_p.D300N|KCNQ5_ENST00000355635.3_Missense_Mutation_p.D300N	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	300					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TACATATGCAGATGCTCTCTG	0.328																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(898-900)Gat>Aat		potassium voltage-gated channel, KQT-like subfamily, member 5							108	95	99					6																	73787590		2203	4299	6502	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73787590G>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.898G>A	6.37:g.73787590G>A	ENSP00000359425:p.Asp300Asn					KCNQ5_ENST00000403813.2_Missense_Mutation_p.D300N|KCNQ5_ENST00000402622.2_Missense_Mutation_p.D300N|KCNQ5_ENST00000370392.1_Missense_Mutation_p.D300N|KCNQ5_ENST00000370398.1_Missense_Mutation_p.D300N|KCNQ5_ENST00000355635.3_Missense_Mutation_p.D300N|KCNQ5_ENST00000355194.4_Missense_Mutation_p.D300N|KCNQ5_ENST00000414165.2_Missense_Mutation_p.D300N	p.D300N	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	5	1296	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	300					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.898G>A	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562253	0.86335	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86	5.86	5.86	0.93980	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98975	0.9651	M	0.80847	2.515	0.80722	D	1	P;D;D;D;D;D	0.89917	0.537;0.958;0.988;0.985;0.995;1.0	B;P;D;D;D;D	0.74023	0.413;0.835;0.946;0.91;0.934;0.982	D	0.99833	1.1055	10	0.87932	D	0	.	20.1823	0.98208	0.0:0.0:1.0:0.0	.	300;300;300;300;300;300	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	N	300	ENSP00000345055:D300N;ENSP00000347326:D300N;ENSP00000359425:D300N;ENSP00000359419:D300N;ENSP00000385501:D300N;ENSP00000347853:D300N;ENSP00000384453:D300N;ENSP00000409861:D300N	ENSP00000345055:D300N	D	+	1	0	KCNQ5	73844311	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.771000	0.95319	0.650000	0.86243	GAT		0.328	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		24	51	0	0	0	1	0	24	51					A	73787590	G	A	73787590	3	1	471	1	0	0	0	0	1	0	0	0	8086	942	33	3	916	3	KCNQ5	6	73787590	Missense_Mutation	SNP	G	TCGA-YL-A9WK-01A-11D-A377-08	36540470	73787590	97327477	17	31768											
GPR126	57211	broad.mit.edu	37	chr6	142691610	142691610	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacatttttgcagaaagctTtgaacagctctgccttgttt	10	15	8	8	0	1	3	0	1	1	2	1	3	1	3	1	0	5	4	1	0	2	5			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr6:142691610T>G	ENST00000230173.6	+	4	1225	c.749T>G	c.(748-750)tTt>tGt	p.F250C	GPR126_ENST00000367608.2_Missense_Mutation_p.F250C|GPR126_ENST00000296932.8_Missense_Mutation_p.F250C|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367609.3_Missense_Mutation_p.F250C	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	250	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			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)		GCAGAAAGCTTTGAACAGCTC	0.338																																						ENST00000230173.6																			0				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						c.(748-750)tTt>tGt		G protein-coupled receptor 126							78	78	78					6																	142691610		1824	4077	5901	SO:0001583	missense	0				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142691610T>G	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.749T>G	6.37:g.142691610T>G	ENSP00000230173:p.Phe250Cys					GPR126_ENST00000367609.3_Missense_Mutation_p.F250C|GPR126_ENST00000367608.2_Missense_Mutation_p.F250C|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000296932.8_Missense_Mutation_p.F250C	p.F250C	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	4	1225	+	Breast(32;0.176)		250			Pentaxin.		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.749T>G	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.376296	0.61735	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.5	4.34	0.51931	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.181255	0.39615	N	0.001316	T	0.58047	0.2095	L	0.60455	1.87	0.29586	N	0.848781	D;D;D;D	0.71674	0.996;0.998;0.996;0.996	P;D;P;D	0.65684	0.896;0.927;0.896;0.937	T	0.59295	-0.7481	10	0.87932	D	0	.	11.38	0.49752	0.0:0.0709:0.0:0.9291	.	250;250;250;250	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	C	250	ENSP00000230173:F250C;ENSP00000356580:F250C;ENSP00000296932:F250C;ENSP00000356581:F250C	ENSP00000230173:F250C	F	+	2	0	GPR126	142733303	1.000000	0.71417	0.996000	0.52242	0.800000	0.45204	3.730000	0.55006	0.929000	0.37192	0.528000	0.53228	TTT		0.338	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			8	38	0	0	0	1	0	8	38					G	142691610	T	G	142691610	3	3	471	1	0	0	0	0	1	0	0	0	6640	1841	64	5	763	5	GPR126	6	142691610	Missense_Mutation	SNP	T	TCGA-YL-A9WK-01A-11D-A377-08	68904020	142691610	28423457	18	31769											
ZNF777	27153	broad.mit.edu	37	chr7	149152891	149152891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgagggtcccttctggaGcacatgtggcatccggccag	7	8	15	11	1	1	1	0	1	1	0	3	3	3	2	3	4	1	2	3	4	0	1			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr7:149152891G>A	ENST00000247930.4	-	2	546	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	75					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCCTTCTGGAGCACATGTGGC	0.587																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(223-225)Ctc>Ttc		zinc finger protein 777							83	90	88					7																	149152891		1904	4118	6022	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152891G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.223C>T	7.37:g.149152891G>A	ENSP00000247930:p.Leu75Phe						p.L75F	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	546	-	Melanoma(164;0.165)		75					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.223C>T	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439190	0.25900	.	.	ENSG00000196453	ENST00000247930	T	0.05447	3.44	4.14	-0.0919	0.13658	.	0.752361	0.11231	N	0.585686	T	0.04182	0.0116	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42599	-0.9442	10	0.33141	T	0.24	-6.1082	6.088	0.19978	0.5062:0.0:0.4938:0.0	.	75	Q9ULD5-2	.	F	75	ENSP00000247930:L75F	ENSP00000247930:L75F	L	-	1	0	ZNF777	148783824	0.006000	0.16342	0.010000	0.14722	0.824000	0.46624	0.397000	0.20883	0.080000	0.16959	0.462000	0.41574	CTC		0.587	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		26	59	0	0	0	1	0	26	59					A	149152891	G	A	149152891	3	1	471	1	0	0	0	0	1	0	0	0	18147	971	34	3	2292	3	ZNF777	7	149152891	Missense_Mutation	SNP	G	TCGA-YL-A9WK-01A-11D-A377-08		149152891	9985772	19	31770											
CNTNAP3	79937	broad.mit.edu	37	chr9	39178168	39178168	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttacctgaattaagaaaaAagacaagctttcctttaatt	16	15	4	6	0	0	3	0	1	0	2	1	3	1	3	2	0	2	1	2	0	8	7			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr9:39178168A>G	ENST00000297668.6	-	5	801	c.728T>C	c.(727-729)tTt>tCt	p.F243S	CNTNAP3_ENST00000377659.1_Missense_Mutation_p.F243S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.F243S|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.F155S|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.F243S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	243	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATTAAGAAAAAAGACAAGCTT	0.299																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(727-729)tTt>tCt		contactin associated protein-like 3							31	36	35					9																	39178168		2144	4248	6392	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39178168A>G	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.728T>C	9.37:g.39178168A>G	ENSP00000297668:p.Phe243Ser					CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.F243S|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.F243S|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.F155S|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.F243S	p.F243S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	801	-			243			Laminin G-like 1.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.728T>C	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318870	0.41096	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	3.16	3.16	0.36331	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	T	0.81819	0.4903	L	0.43152	1.355	0.09310	N	1	P;B;B;P;P	0.47677	0.899;0.402;0.288;0.795;0.736	P;B;B;P;P	0.54856	0.762;0.348;0.061;0.565;0.449	T	0.71862	-0.4464	9	0.87932	D	0	.	10.6771	0.45792	1.0:0.0:0.0:0.0	.	243;243;243;243;243	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	S	243;243;155;243;243;155	ENSP00000297668:F243S;ENSP00000366884:F243S;ENSP00000350863:F155S;ENSP00000320728:F243S;ENSP00000366887:F243S	ENSP00000297668:F243S	F	-	2	0	CNTNAP3	39168168	0.777000	0.28628	0.004000	0.12327	0.988000	0.76386	7.211000	0.77933	1.422000	0.47177	0.460000	0.39030	TTT		0.299	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		32	122	0	0	0	1	0	32	122					G	39178168	A	G	39178168	3	3	471	1	0	0	0	0	1	0	0	0	3648	14	1	4	3218	4	CNTNAP3	9	39178168	Missense_Mutation	SNP	A	TCGA-YL-A9WK-01A-11D-A377-08		39178168	102035263	20	31771											
OR1N1	138883	broad.mit.edu	37	chr9	125288736	125288736	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggttcaacatgggagtCactatggtgtacattgcagc	11	10	13	7	0	2	0	2	0	0	0	2	1	2	1	0	4	4	3	0	4	4	4			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr9:125288736C>A	ENST00000304880.2	-	1	836	c.837G>T	c.(835-837)gtG>gtT	p.V279V		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACATGGGAGTCACTATGGTGT	0.483																																						ENST00000304880.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(835-837)gtG>gtT		olfactory receptor, family 1, subfamily N, member 1							102	95	97					9																	125288736		2203	4300	6503	SO:0001819	synonymous_variant	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125288736C>A	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"GPCR / Class A : Olfactory receptors"	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.837G>T	9.37:g.125288736C>A							p.V279V	NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN			1	836	-			279					A3KFM1|O43870|Q6IF16|Q96R93	Silent	SNP	ENST00000304880.2	37	c.837G>T	CCDS6844.1																																																																																				0.483	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			34	64	1	0	2.85442e-18	1	3.43695e-18	34	64					A	125288736	C	A	125288736	2	1	471	1	0	0	0	0	0	0	0	1	10969	813	29	5		5	OR1N1	9	125288736	Silent	SNP	C	TCGA-YL-A9WK-01A-11D-A377-08	86110568	125288736	15924695	21	31772											
MUC2	4583	broad.mit.edu	37	chr11	1081442	1081442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttctctgtcttccgccCgtcttcctaccacatcatgg	5	13	7	16	2	4	0	1	0	3	0	7	1	6	0	4	1	2	1	4	1	1	4	rs375966999		TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr11:1081442C>T	ENST00000441003.2	+	12	1487	c.1460C>T	c.(1459-1461)cCg>cTg	p.P487L	MUC2_ENST00000359061.5_Missense_Mutation_p.P487L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	487	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GTCTTCCGCCCGTCTTCCTAC	0.652																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(1459-1461)cCg>cTg		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)	C	LEU/PRO	0,4186		0,0,2093	73	78	76		1460	2.2	0	11		76	1,8403		0,1,4201	no	missense	MUC2	NM_002457.2	98	0,1,6294	TT,TC,CC		0.0119,0.0,0.0079	probably-damaging	487/2813	1081442	1,12589	2093	4202	6295	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1081442C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1460C>T	11.37:g.1081442C>T	ENSP00000415183:p.Pro487Leu					MUC2_ENST00000359061.5_Missense_Mutation_p.P487L	p.P487L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	1487	+		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)	487			VWFD 2.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.1460C>T		.	.	.	.	.	.	.	.	.	.	C	10.14	1.268850	0.23136	0.0	1.19E-4	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.55930	0.49;0.49	3.17	2.24	0.28232	.	0.232209	0.25857	U	0.027860	T	0.62183	0.2407	L	0.51853	1.615	0.29273	N	0.870548	D	0.89917	1.0	D	0.87578	0.998	T	0.56817	-0.7916	10	0.39692	T	0.17	.	9.9752	0.41779	0.0:0.8976:0.0:0.1024	.	487	E7EUV1	.	L	487	ENSP00000415183:P487L;ENSP00000351956:P487L	ENSP00000351956:P487L	P	+	2	0	MUC2	1071442	0.984000	0.35163	0.007000	0.13788	0.314000	0.28054	4.544000	0.60691	0.532000	0.28657	0.491000	0.48974	CCG		0.652	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		3	40	0	0	0	1	0	3	40					T	1081442	C	T	1081442	3	4	471	1	0	0	0	0	1	0	0	0	9975	652	23	2	1506	2	MUC2	11	1081442	Missense_Mutation	SNP	C	TCGA-YL-A9WK-01A-11D-A377-08		1081442	133925074	22	31773											
TRIM48	79097	broad.mit.edu	37	chr11	55032718	55032718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaggagcctgctctgtttGctgtgctccagctctcagga	6	11	12	12	0	2	0	1	0	2	0	4	3	3	2	2	2	5	5	2	2	0	1			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr11:55032718G>T	ENST00000417545.2	+	2	473	c.387G>T	c.(385-387)ttG>ttT	p.L129F		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	113						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TGCTCTGTTTGCTGTGCTCCA	0.527																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(385-387)ttG>ttT		tripartite motif containing 48							57	52	54					11																	55032718		2191	4258	6449	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55032718G>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19021	protein-coding gene	gene with protein product			"tripartite motif-containing 48"				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.387G>T	11.37:g.55032718G>T	ENSP00000402414:p.Leu129Phe						p.L129F	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			2	473	+			113					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.387G>T	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	g	6.579	0.475203	0.12521	.	.	ENSG00000150244	ENST00000417545	T	0.42131	0.98	0.596	0.596	0.17496	Zinc finger, B-box (3);	.	.	.	.	T	0.52451	0.1735	M	0.78456	2.415	0.22858	N	0.998643	P	0.37688	0.605	P	0.52424	0.698	T	0.47071	-0.9145	9	0.16896	T	0.51	.	7.1377	0.25537	1.0E-4:0.0:0.9999:0.0	.	113	Q8IWZ4	TRI48_HUMAN	F	129	ENSP00000402414:L129F	ENSP00000402414:L129F	L	+	3	2	TRIM48	54789294	0.001000	0.12720	0.074000	0.20217	0.693000	0.40251	0.169000	0.16641	0.629000	0.30376	0.413000	0.27773	TTG		0.527	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			6	92	1	0	0.248553	1	0.248553	6	92					T	55032718	G	T	55032718	3	4	471	1	0	0	0	0	1	0	0	0	16520	1310	46	5	393	5	TRIM48	11	55032718	Missense_Mutation	SNP	G	TCGA-YL-A9WK-01A-11D-A377-08	53951276	55032718	79973798	23	31774											
FAM111B	374393	broad.mit.edu	37	chr11	58893249	58893249	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggaaatgcgtttcctccagGactatggcgacagatttctc	9	12	10	10	2	1	1	0	0	1	1	4	4	3	3	2	3	1	1	2	3	2	3			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr11:58893249G>C	ENST00000343597.3	+	4	1870	c.1679G>C	c.(1678-1680)gGa>gCa	p.G560A	FAM111B_ENST00000411426.1_Missense_Mutation_p.G530A|FAM111B_ENST00000529618.1_Missense_Mutation_p.G530A	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	560							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TTTCCTCCAGGACTATGGCGA	0.368																																						ENST00000343597.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(1678-1680)gGa>gCa		family with sequence similarity 111, member B							110	103	106					11																	58893249		2201	4295	6496	SO:0001583	missense	374393						catalytic activity	g.chr11:58893249G>C	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1679G>C	11.37:g.58893249G>C	ENSP00000341565:p.Gly560Ala					FAM111B_ENST00000529618.1_Missense_Mutation_p.G530A|FAM111B_ENST00000411426.1_Missense_Mutation_p.G530A	p.G560A	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN			4	1870	+			560					B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	c.1679G>C	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565657	0.45694	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.37915	1.17;1.17;1.18	5.16	2.17	0.27698	Peptidase cysteine/serine, trypsin-like (1);	0.189752	0.31847	N	0.006965	T	0.43634	0.1256	L	0.46819	1.47	0.09310	N	1	D	0.56287	0.975	P	0.62184	0.899	T	0.14671	-1.0464	10	0.56958	D	0.05	.	6.3598	0.21422	0.1683:0.1493:0.6823:0.0	.	560	Q6SJ93	F111B_HUMAN	A	530;530;560	ENSP00000393855:G530A;ENSP00000432875:G530A;ENSP00000341565:G560A	ENSP00000341565:G560A	G	+	2	0	FAM111B	58649825	0.999000	0.42202	0.304000	0.25085	0.018000	0.09664	3.671000	0.54576	0.593000	0.29745	-0.136000	0.14681	GGA		0.368	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		12	119	0	0	0	1	0	12	119					C	58893249	G	C	58893249	3	2	471	1	0	0	0	0	1	0	0	0	5400	1174	41	5	1685	5	FAM111B	11	58893249	Missense_Mutation	SNP	G	TCGA-YL-A9WK-01A-11D-A377-08	3860531	58893249	76113267	24	31775											
ANO6	196527	broad.mit.edu	37	chr12	45816826	45816826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgattgcagccaagctggCttttatcattgtcatggagg	8	14	12	7	0	2	1	2	1	0	0	2	2	2	2	1	3	3	3	1	3	2	4			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr12:45816826C>T	ENST00000320560.8	+	19	2709	c.2507C>T	c.(2506-2508)gCt>gTt	p.A836V	ANO6_ENST00000423947.3_Missense_Mutation_p.A857V|ANO6_ENST00000441606.2_Missense_Mutation_p.A818V|ANO6_ENST00000425752.2_Missense_Mutation_p.A836V|ANO6_ENST00000435642.1_Missense_Mutation_p.A836V	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	836					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			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						GCCAAGCTGGCTTTTATCATT	0.408																																						ENST00000320560.8																			0				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						c.(2506-2508)gCt>gTt		anoctamin 6							128	124	125					12																	45816826		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45816826C>T	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2507C>T	12.37:g.45816826C>T	ENSP00000320087:p.Ala836Val					ANO6_ENST00000423947.3_Missense_Mutation_p.A857V|ANO6_ENST00000435642.1_Missense_Mutation_p.A836V|ANO6_ENST00000425752.2_Missense_Mutation_p.A836V|ANO6_ENST00000441606.2_Missense_Mutation_p.A818V	p.A836V	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN			19	2709	+			836					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.2507C>T	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110297	0.94292	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.62941	2.62;-0.01;2.62;-0.01;-0.01	4.76	4.76	0.60689	.	0.123346	0.53938	D	0.000044	T	0.78400	0.4277	M	0.73598	2.24	0.58432	D	0.999999	D;P;D;D	0.67145	0.996;0.954;0.982;0.989	D;P;P;P	0.64687	0.928;0.904;0.897;0.896	T	0.81373	-0.0962	10	0.72032	D	0.01	.	18.6591	0.91465	0.0:1.0:0.0:0.0	.	818;857;836;836	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	V	836;857;836;836;818	ENSP00000391417:A836V;ENSP00000409126:A857V;ENSP00000413840:A836V;ENSP00000320087:A836V;ENSP00000413137:A818V	ENSP00000320087:A836V	A	+	2	0	ANO6	44103093	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.559000	0.82265	2.547000	0.85894	0.655000	0.94253	GCT		0.408	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		5	89	0	0	0	1	0	5	89					T	45816826	C	T	45816826	3	4	471	1	0	0	0	0	1	0	0	0	701	797	28	3	2601	3	ANO6	12	45816826	Missense_Mutation	SNP	C	TCGA-YL-A9WK-01A-11D-A377-08		45816826	88035069	25	31776											
ANKLE2	23141	broad.mit.edu	37	chr12	133304674	133304674	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttccatctgtgcacggcCgggaactgatgggggtcgac	6	9	14	12	3	2	1	0	1	2	0	4	3	3	2	2	4	2	1	2	4	1	1			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr12:133304674C>A	ENST00000357997.5	-	12	2648	c.2559G>T	c.(2557-2559)ccG>ccT	p.P853P	ANKLE2_ENST00000542657.1_Silent_p.P208P|ANKLE2_ENST00000542282.1_Silent_p.P208P|ANKLE2_ENST00000539605.1_Silent_p.P791P|ANKLE2_ENST00000542374.1_5'UTR	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	853					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGTGCACGGCCGGGAACTGAT	0.552																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(2371-2373)ccG>ccT		ankyrin repeat and LEM domain containing 2							126	135	132					12																	133304674		1965	4134	6099	SO:0001819	synonymous_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133304674C>A	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2559G>T	12.37:g.133304674C>A						ANKLE2_ENST00000542657.1_Silent_p.P208P|ANKLE2_ENST00000542282.1_Silent_p.P208P|ANKLE2_ENST00000357997.5_Silent_p.P853P|ANKLE2_ENST00000542374.1_5'UTR	p.P791P			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	11	9057	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	853					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	ENST00000357997.5	37	c.2373G>T	CCDS41869.1																																																																																				0.552	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			10	145	1	0	7.48243e-07	1	8.82927e-07	10	145					A	133304674	C	A	133304674	2	1	471	1	0	0	0	0	0	0	0	1	633	639	23	5		5	ANKLE2	12	133304674	Silent	SNP	C	TCGA-YL-A9WK-01A-11D-A377-08	87487848	133304674	547221	26	31777											
DIS3	22894	broad.mit.edu	37	chr13	73337651	73337651	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggtggagcaggatgttttcGaagcagagcatgttcagaaa	13	9	14	5	1	1	2	1	0	0	2	2	5	1	4	0	3	3	5	0	3	2	3			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr13:73337651G>C	ENST00000377767.4	-	16	2165	c.2065C>G	c.(2065-2067)Cga>Gga	p.R689G	DIS3_ENST00000545453.1_Missense_Mutation_p.R527G|DIS3_ENST00000377780.4_Missense_Mutation_p.R659G	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	689					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			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)		GGATGTTTTCGAAGCAGAGCA	0.368										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(2065-2067)Cga>Gga		DIS3 mitotic control homolog (S. cerevisiae)							89	89	89					13																	73337651		2203	4300	6503	SO:0001583	missense	22894				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	g.chr13:73337651G>C	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2065C>G	13.37:g.73337651G>C	ENSP00000366997:p.Arg689Gly	Multiple Myeloma(4;0.011)				DIS3_ENST00000377780.4_Missense_Mutation_p.R659G|DIS3_ENST00000545453.1_Missense_Mutation_p.R527G	p.R689G	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	16	2165	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	689					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.2065C>G	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502413	0.64298	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.59638	0.25;0.25;0.25	5.74	3.79	0.43588	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	D	0.87229	0.6125	H	0.99777	4.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.93561	0.6895	10	0.87932	D	0	.	16.0088	0.80383	0.0:0.0:0.6775:0.3224	.	659;689	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	G	689;659;527	ENSP00000366997:R689G;ENSP00000367011:R659G;ENSP00000440058:R527G	ENSP00000366997:R689G	R	-	1	2	DIS3	72235652	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.208000	0.51114	1.389000	0.46526	0.655000	0.94253	CGA		0.368	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		16	46	0	0	0	1	0	16	46					C	73337651	G	C	73337651	3	2	471	1	0	0	0	0	1	0	0	0	4535	1066	37	5	835	5	DIS3	13	73337651	Missense_Mutation	SNP	G	TCGA-YL-A9WK-01A-11D-A377-08		73337651	41832227	27	31778											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1774642	1774642	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actacgagttccagacgcgcCagctggagctgaaggccaag	11	5	13	12	3	0	2	0	1	0	1	1	4	1	3	3	2	3	3	3	2	3	2			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr16:1774642C>T	ENST00000250894.4	+	2	560	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	MAPK8IP3_ENST00000356010.5_Nonsense_Mutation_p.Q135*	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	135					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCAGACGCGCCAGCTGGAGCT	0.557																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(403-405)Cag>Tag		mitogen-activated protein kinase 8 interacting protein 3							48	54	52					16																	1774642		2043	4191	6234	SO:0001587	stop_gained	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1774642C>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.403C>T	16.37:g.1774642C>T	ENSP00000250894:p.Gln135*					MAPK8IP3_ENST00000356010.5_Nonsense_Mutation_p.Q135*	p.Q135*	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			2	560	+			135					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Nonsense_Mutation	SNP	ENST00000250894.4	37	c.403C>T	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351292	0.82132	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-22.8305	17.0836	0.86604	0.0:1.0:0.0:0.0	.	.	.	.	X	135	.	ENSP00000250894:Q135X	Q	+	1	0	MAPK8IP3	1714643	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.650000	0.83521	2.312000	0.78011	0.563000	0.77884	CAG		0.557	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		19	28	0	0	0	1	0	19	28					T	1774642	C	T	1774642	4	4	471	1	0	0	0	0	0	1	0	0	9286	595	21	3	409	3	MAPK8IP3	16	1774642	Nonsense_Mutation	SNP	C	TCGA-YL-A9WK-01A-11D-A377-08		1774642	88580111	28	31779											
MYH11	4629	broad.mit.edu	37	chr16	15841786	15841786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggggatggcattcgccGccaggatctcgtagcttgaa	7	11	13	10	3	1	1	0	1	1	0	3	3	1	3	2	4	1	3	2	4	2	4			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr16:15841786G>A	ENST00000300036.5	-	18	2304	c.2195C>T	c.(2194-2196)gCg>gTg	p.A732V	MYH11_ENST00000452625.2_Missense_Mutation_p.A739V|MYH11_ENST00000396324.3_Missense_Mutation_p.A739V|MYH11_ENST00000576790.2_Missense_Mutation_p.A732V	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	732	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			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						GGCATTCGCCGCCAGGATCTC	0.612			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				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						c.(2194-2196)gCg>gTg		myosin, heavy chain 11, smooth muscle							83	76	78					16																	15841786		2197	4300	6497	SO:0001583	missense	4629				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	g.chr16:15841786G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2195C>T	16.37:g.15841786G>A	ENSP00000300036:p.Ala732Val					MYH11_ENST00000576790.1_Missense_Mutation_p.A732V|MYH11_ENST00000396324.3_Missense_Mutation_p.A739V|MYH11_ENST00000300036.5_Missense_Mutation_p.A732V|MYH11_ENST00000452625.2_Missense_Mutation_p.A739V	p.A732V	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			18	2301	-			732			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2195C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012272	0.75046	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	4.82	4.82	0.62117	Myosin head, motor domain (2);	0.062173	0.64402	D	0.000005	T	0.64605	0.2613	L	0.41961	1.31	0.58432	D	0.999997	P;P;B;P;B	0.48589	0.912;0.74;0.33;0.74;0.33	B;B;B;B;B	0.39771	0.227;0.309;0.309;0.309;0.227	T	0.71922	-0.4446	10	0.72032	D	0.01	.	16.918	0.86156	0.0:0.0:1.0:0.0	.	739;732;739;732;739	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	V	732;732;739;739;739	ENSP00000300036:A732V;ENSP00000345136:A732V;ENSP00000379616:A739V;ENSP00000407821:A739V	ENSP00000300036:A732V	A	-	2	0	MYH11	15749287	1.000000	0.71417	0.915000	0.36163	0.996000	0.88848	9.848000	0.99507	2.224000	0.72417	0.561000	0.74099	GCG		0.612	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		9	65	0	0	0	1	0	9	65					A	15841786	G	A	15841786	3	1	471	1	0	0	0	0	1	0	0	0	10031	1087	38	1	3854	1	MYH11	16	15841786	Missense_Mutation	SNP	G	TCGA-YL-A9WK-01A-11D-A377-08	14067144	15841786	74512967	29	31780											
ACADVL	37	broad.mit.edu	37	chr17	7126073	7126073	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgccatcggagaacgtGctgggtgaggttgggagtgg	6	8	21	6	3	0	2	0	1	0	1	1	4	0	3	1	6	3	2	1	6	1	1			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr17:7126073G>A	ENST00000356839.5	+	10	1145	c.966G>A	c.(964-966)gtG>gtA	p.V322V	ACADVL_ENST00000543245.2_Silent_p.V345V|ACADVL_ENST00000350303.5_Silent_p.V300V|MIR324_ENST00000362183.1_RNA	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	322	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						CGGAGAACGTGCTGGGTGAGG	0.562																																						ENST00000356839.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						c.(964-966)gtG>gtA		acyl-CoA dehydrogenase, very long chain							138	123	128					17																	7126073		2203	4300	6503	SO:0001819	synonymous_variant	37				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	g.chr17:7126073G>A	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"acyl-Coenzyme A dehydrogenase, very long chain"			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.966G>A	17.37:g.7126073G>A						ACADVL_ENST00000543245.2_Silent_p.V345V|ACADVL_ENST00000350303.5_Silent_p.V300V	p.V322V	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN			10	1145	+			322			Catalytic.		B4DEB6|F5H2A9|O76056|Q8WUL0	Silent	SNP	ENST00000356839.5	37	c.966G>A	CCDS11090.1																																																																																				0.562	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		6	11	0	0	0	1	0	6	11					A	7126073	G	A	7126073	2	1	471	1	0	0	0	0	0	0	0	1	116	1306	46	3		3	ACADVL	17	7126073	Silent	SNP	G	TCGA-YL-A9WK-01A-11D-A377-08		7126073	74069137	30	31781											
TMEM102	284114	broad.mit.edu	37	chr17	7339883	7339883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtagaccagccgcacagCtacgtcactgagcacgaggc	10	6	11	14	3	2	2	1	1	1	1	2	3	2	2	2	1	4	4	2	1	2	2			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr17:7339883C>A	ENST00000323206.1	+	3	858	c.585C>A	c.(583-585)agC>agA	p.S195R	RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575235.1_5'Flank|FGF11_ENST00000293829.4_5'Flank|TMEM102_ENST00000396568.1_Missense_Mutation_p.S195R|RP11-104H15.7_ENST00000575310.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	195					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				AGCCGCACAGCTACGTCACTG	0.577																																						ENST00000323206.1																			0				kidney(1)|lung(3)|skin(1)	5						c.(583-585)agC>agA		transmembrane protein 102							91	92	91					17																	7339883		2203	4300	6503	SO:0001583	missense	284114				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding	g.chr17:7339883C>A	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.585C>A	17.37:g.7339883C>A	ENSP00000315387:p.Ser195Arg					RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.S195R	p.S195R	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN			3	858	+		Prostate(122;0.173)	195					D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	c.585C>A	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	C	4.931	0.172979	0.09391	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.46451	0.87;0.87	5.2	1.73	0.24493	.	1.333950	0.04808	N	0.434760	T	0.32496	0.0831	L	0.36672	1.1	0.09310	N	1	B	0.33379	0.41	B	0.26517	0.07	T	0.26573	-1.0099	10	0.59425	D	0.04	-13.1981	6.9465	0.24522	0.0:0.2818:0.0:0.7182	.	195	Q8N9M5	TM102_HUMAN	R	195	ENSP00000315387:S195R;ENSP00000379815:S195R	ENSP00000315387:S195R	S	+	3	2	TMEM102	7280607	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.391000	0.07323	0.066000	0.16515	-0.793000	0.03317	AGC		0.577	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518		5	35	1	0	0.184627	1	0.187811	5	35					A	7339883	C	A	7339883	3	1	471	1	0	0	0	0	1	0	0	0	16014	796	28	5	591	5	TMEM102	17	7339883	Missense_Mutation	SNP	C	TCGA-YL-A9WK-01A-11D-A377-08	213810	7339883	73855327	31	31782											
TP53	7157	broad.mit.edu	37	chr17	7578272	7578272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttccactcggataagatGctgaggaggggccagaccta	10	8	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	2	3			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr17:7578272G>T	ENST00000269305.4	-	6	766	c.577C>A	c.(577-579)Cat>Aat	p.H193N	TP53_ENST00000445888.2_Missense_Mutation_p.H193N|TP53_ENST00000413465.2_Missense_Mutation_p.H193N|TP53_ENST00000455263.2_Missense_Mutation_p.H193N|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193N|TP53_ENST00000420246.2_Missense_Mutation_p.H193N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGATAAGATGCTGAGGAGGG	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		85	Substitution - Missense(52)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(1)	breast(14)|lung(12)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(7)|ovary(6)|upper_aerodigestive_tract(5)|liver(5)|oesophagus(5)|central_nervous_system(4)|skin(4)|bone(4)|large_intestine(3)|stomach(2)|urinary_tract(2)|pancreas(2)|adrenal_gland(1)|soft_tissue(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						c.(577-579)Cat>Aat	Other conserved DNA damage response genes	tumor protein p53							95	85	88					17																	7578272		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578272G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.577C>A	17.37:g.7578272G>T	ENSP00000269305:p.His193Asn	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)				TP53_ENST00000359597.4_Missense_Mutation_p.H193N|TP53_ENST00000445888.2_Missense_Mutation_p.H193N|TP53_ENST00000269305.4_Missense_Mutation_p.H193N|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.H193N|TP53_ENST00000455263.2_Missense_Mutation_p.H193N	p.H193N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	709	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.577C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371664	0.61624	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99853	-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	M	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96559	0.9414	10	0.87932	D	0	-29.0766	17.0767	0.86588	0.0:0.0:1.0:0.0	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193N;ENSP00000352610:H193N;ENSP00000269305:H193N;ENSP00000398846:H193N;ENSP00000391127:H193N;ENSP00000391478:H193N;ENSP00000425104:H61N;ENSP00000423862:H100N	ENSP00000269305:H193N	H	-	1	0	TP53	7518997	1.000000	0.71417	0.971000	0.41717	0.032000	0.12392	9.813000	0.99286	2.702000	0.92279	0.655000	0.94253	CAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	6	1	0	0.000308642	1	0.000331089	13	6					T	7578272	G	T	7578272	3	4	471	1	0	0	0	0	1	0	0	0	16378	1319	46	5	717	5	TP53	17	7578272	Missense_Mutation	SNP	G	TCGA-YL-A9WK-01A-11D-A377-08	238389	7578272	73616938	32	31783											
GSDMA	284110	broad.mit.edu	37	chr17	38133155	38133155	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctcctcccttggggaCgaggagctgaccctcacgga	6	8	12	15	2	2	1	1	1	1	0	4	5	3	4	3	4	2	2	3	4	0	1	rs138595723	byFrequency	TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr17:38133155C>T	ENST00000301659.4	+	12	1300	c.1182C>T	c.(1180-1182)gaC>gaT	p.D394D		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	394					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CCCTTGGGGACGAGGAGCTGA	0.597													C|||	5	0.000998403	0	0	5008	,	,		18299	0		0.004	False		,,,				2504	0.001					ENST00000301659.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						c.(1180-1182)gaC>gaT		gasdermin A		C		4,3884		0,4,1940	116	120	119		1182	-11.2	0.4	17	dbSNP_134	119	23,8263		0,23,4120	no	coding-synonymous	GSDMA	NM_178171.4		0,27,6060	TT,TC,CC		0.2776,0.1029,0.2218		394/446	38133155	27,12147	1944	4143	6087	SO:0001819	synonymous_variant	284110				apoptosis|induction of apoptosis	perinuclear region of cytoplasm		g.chr17:38133155C>T	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"gasdermin", "gasdermin 1"	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.1182C>T	17.37:g.38133155C>T							p.D394D	NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN			12	1300	+			394					Q32MC5|Q86VE7|Q8N1M6	Silent	SNP	ENST00000301659.4	37	c.1182C>T	CCDS45669.1																																																																																				0.597	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		5	81	0	0	0	1	0	5	81					T	38133155	C	T	38133155	2	4	471	1	0	0	0	0	0	0	0	1	6816	535	19	1		1	GSDMA	17	38133155	Silent	SNP	C	TCGA-YL-A9WK-01A-11D-A377-08	30554883	38133155	43062055	33	31784											
KIAA1267	284058	broad.mit.edu	37	chr17	44117077	44117077	+	Missense_Mutation	SNP	T	T	C																															ctgacacttactggctgttgTtaggaaggagctgaccaatt																										TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr17:44117077T>C	ENST00000262419.6	-	8	2664	c.2194A>G	c.(2194-2196)Aca>Gca	p.T732A	KANSL1_ENST00000572904.1_Missense_Mutation_p.T732A|KANSL1_ENST00000432791.1_Missense_Mutation_p.T732A|KANSL1_ENST00000393476.3_Missense_Mutation_p.T89A|KANSL1_ENST00000574590.1_Missense_Mutation_p.T732A|KANSL1_ENST00000575318.1_Missense_Mutation_p.T732A	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	732					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CTGGCTGTTGTTAGGAAGGAG	0.478																																						ENST00000262419.6																			0											c.(2194-2196)Aca>Gca		KAT8 regulatory NSL complex subunit 1							70	66	67					17																	44117077		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44117077T>C	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2194A>G	17.37:g.44117077T>C	ENSP00000262419:p.Thr732Ala					KANSL1_ENST00000393476.3_Missense_Mutation_p.T89A|KANSL1_ENST00000432791.1_Missense_Mutation_p.T732A|KANSL1_ENST00000575318.1_Missense_Mutation_p.T732A|KANSL1_ENST00000574590.1_Missense_Mutation_p.T732A|KANSL1_ENST00000572904.1_Missense_Mutation_p.T732A	p.T732A	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			8	2664	-			732					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.2194A>G	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	T	4.571	0.106028	0.08780	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.20881	2.85;2.85;2.04	6.05	4.95	0.65309	.	0.363927	0.32785	N	0.005649	T	0.08935	0.0221	N	0.12182	0.205	0.37786	D	0.927208	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.001;0.002	T	0.16808	-1.0390	10	0.02654	T	1	-11.9814	7.6338	0.28255	0.0:0.1226:0.0:0.8774	.	63;63;732;732	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	A	732;732;89	ENSP00000262419:T732A;ENSP00000387393:T732A;ENSP00000377117:T89A	ENSP00000262419:T732A	T	-	1	0	KIAA1267	41472924	0.999000	0.42202	0.970000	0.41538	0.938000	0.57974	1.871000	0.39539	2.320000	0.78422	0.528000	0.53228	ACA		0.478	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		28	62	0	0	0	1	0	28	62					C	44117077	T	C	44117077	3	2	471	1	0	0	0	0	1	0	0	0	8219	1725	60	4	1155	4	KIAA1267	17	44117077	Missense_Mutation	SNP	T	TCGA-YL-A9WK-01A-11D-A377-08	5983922	44117077	37078133	34	31785	154	2									
KIAA1267	284058	broad.mit.edu	37	chr17	44117079	44117079	+	Missense_Mutation	SNP	A	A	G																															gacacttactggctgttgttAggaaggagctgaccaatttg																										TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr17:44117079A>G	ENST00000262419.6	-	8	2662	c.2192T>C	c.(2191-2193)cTa>cCa	p.L731P	KANSL1_ENST00000572904.1_Missense_Mutation_p.L731P|KANSL1_ENST00000432791.1_Missense_Mutation_p.L731P|KANSL1_ENST00000393476.3_Missense_Mutation_p.L88P|KANSL1_ENST00000574590.1_Missense_Mutation_p.L731P|KANSL1_ENST00000575318.1_Missense_Mutation_p.L731P	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	731					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGCTGTTGTTAGGAAGGAGCT	0.468																																						ENST00000262419.6																			0											c.(2191-2193)cTa>cCa		KAT8 regulatory NSL complex subunit 1							72	68	69					17																	44117079		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44117079A>G	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2192T>C	17.37:g.44117079A>G	ENSP00000262419:p.Leu731Pro					KANSL1_ENST00000393476.3_Missense_Mutation_p.L88P|KANSL1_ENST00000432791.1_Missense_Mutation_p.L731P|KANSL1_ENST00000575318.1_Missense_Mutation_p.L731P|KANSL1_ENST00000574590.1_Missense_Mutation_p.L731P|KANSL1_ENST00000572904.1_Missense_Mutation_p.L731P	p.L731P	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			8	2662	-			731					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.2192T>C	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.898034	0.72639	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.26660	2.21;2.21;1.72	6.05	6.05	0.98169	.	0.255631	0.39834	N	0.001253	T	0.33904	0.0879	L	0.38838	1.175	0.80722	D	1	D;D;D;B	0.60575	0.988;0.988;0.969;0.172	P;P;P;B	0.56700	0.804;0.804;0.735;0.135	T	0.02294	-1.1181	10	0.29301	T	0.29	-7.8459	13.9767	0.64277	1.0:0.0:0.0:0.0	.	62;62;731;731	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	P	731;731;88	ENSP00000262419:L731P;ENSP00000387393:L731P;ENSP00000377117:L88P	ENSP00000262419:L731P	L	-	2	0	KIAA1267	41472926	1.000000	0.71417	0.802000	0.32245	0.947000	0.59692	8.371000	0.90123	2.320000	0.78422	0.528000	0.53228	CTA		0.468	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		28	62	0	0	0	1	0	28	62					G	44117079	A	G	44117079	3	3	471	1	0	0	0	0	1	0	0	0	8219	420	15	4	1157	4	KIAA1267	17	44117079	Missense_Mutation	SNP	A	TCGA-YL-A9WK-01A-11D-A377-08	2	44117079	37078131	35	31786	154	2									
LAMA3	3909	broad.mit.edu	37	chr18	21513897	21513897	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagacttttcgtatcaacCaggtaagtgtccaaacctaa	14	10	6	11	1	1	1	1	0	0	1	3	1	2	1	4	1	2	2	4	1	6	5			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr18:21513897C>T	ENST00000313654.9	+	67	9101	c.8860C>T	c.(8860-8862)Cag>Tag	p.Q2954*	LAMA3_ENST00000269217.6_Nonsense_Mutation_p.Q1345*|LAMA3_ENST00000399516.3_Nonsense_Mutation_p.Q2898*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.Q1289*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2954					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			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)					TCGTATCAACCAGGTAAGTGT	0.493																																						ENST00000313654.9																			0				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						c.(8860-8862)Cag>Tag		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						94	85	89					18																	21513897		2203	4300	6503	SO:0001587	stop_gained	3909				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	g.chr18:21513897C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8860C>T	18.37:g.21513897C>T	ENSP00000324532:p.Gln2954*					LAMA3_ENST00000269217.6_Nonsense_Mutation_p.Q1345*|LAMA3_ENST00000399516.3_Nonsense_Mutation_p.Q2898*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.Q1289*	p.Q2954*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			67	9101	+	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)		2954					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Nonsense_Mutation	SNP	ENST00000313654.9	37	c.8860C>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	47	13.451858	0.99743	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	.	.	.	6.07	0.524	0.17066	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6112	0.28131	0.599:0.3195:0.0:0.0814	.	.	.	.	X	2954;2898;1345	.	ENSP00000269217:Q1345X	Q	+	1	0	LAMA3	19767895	0.023000	0.18921	0.465000	0.27155	0.011000	0.07611	0.239000	0.18023	0.395000	0.25257	0.655000	0.94253	CAG		0.493	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		11	60	0	0	0	1	0	11	60					T	21513897	C	T	21513897	4	4	471	1	0	0	0	0	0	1	0	0	8607	595	21	3	9301	3	LAMA3	18	21513897	Nonsense_Mutation	SNP	C	TCGA-YL-A9WK-01A-11D-A377-08		21513897	56563351	36	31787											
PCP2	126006	broad.mit.edu	37	chr19	7697378	7697382	+	Frame_Shift_Del	DEL	GTCCA	GTCCA	-																															gccagcatgtccatgaggctGtccatctcgggggtggggtc																										TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr19:7697378_7697382delGTCCA	ENST00000311069.5	-	3	478_482	c.188_192delTGGAC	c.(187-192)atggacfs	p.MD63fs	XAB2_ENST00000358368.4_5'Flank|CTD-3214H19.4_ENST00000595866.1_Intron|XAB2_ENST00000534844.1_5'Flank|PCP2_ENST00000598935.1_Frame_Shift_Del_p.MD47fs|CTD-3214H19.6_ENST00000601797.1_RNA	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	63	GoLoco 2. {ECO:0000255|PROSITE- ProRule:PRU00097}.				rhodopsin mediated signaling pathway (GO:0016056)	neuronal cell body (GO:0043025)	GTPase regulator activity (GO:0030695)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|urinary_tract(1)	2						CCATGAGGCTGTCCATCTCGGGGGT	0.659																																						ENST00000311069.5																			0				endometrium(1)|urinary_tract(1)	2						c.(187-192)afs		Purkinje cell protein 2																																				SO:0001589	frameshift_variant	126006				signal transduction		GTPase activator activity	g.chr19:7697378_7697382delGTCCA	BC025387	CCDS32893.1, CCDS62521.1	19p13.3	2008-02-05				ENSG00000174788			30209	protein-coding gene	gene with protein product						12477932	Standard	NM_174895		Approved	MGC41903, GPSM4	uc031rjd.1	Q8IVA1		ENST00000311069.5:c.188_192delTGGAC	19.37:g.7697378_7697382delGTCCA	ENSP00000310585:p.Met63fs					CTD-3214H19.4_ENST00000595866.1_Intron|PCP2_ENST00000598935.1_Frame_Shift_Del_p.MD47fs	p.MD63fs	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN			3	478_482	-			63			GoLoco 2.		M0R2R7|Q3KRG7	Frame_Shift_Del	DEL	ENST00000311069.5	37	c.188_192delTGGAC	CCDS32893.1																																																																																				0.659	PCP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461026.2	XM_058956		26	65						26	65	---	---	---	---	-	7697382	GTCCA	-	7697378	7	5	471	1	0	1	0	1	0	0	0	0	11597	1368	48	0	226	0	PCP2	19	7697378	Frame_Shift_Del	DEL	GTCCA	TCGA-YL-A9WK-01A-11D-A377-08		7697378	51431605	37	31788											
ARHGAP33	115703	broad.mit.edu	37	chr19	36269483	36269483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggagcttcccccgccccccGagggtgccagggctgcccag	4	4	14	19	3	0	0	0	0	0	0	1	2	1	1	7	3	3	2	7	3	0	1			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr19:36269483G>A	ENST00000007510.4	+	5	532	c.388G>A	c.(388-390)Gag>Aag	p.E130K	ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.E130K|ARHGAP33_ENST00000378944.5_5'UTR			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	130	PX; atypical.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCCGCCCCCCGAGGGTGCCAG	0.597																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(388-390)Gag>Aag		Rho GTPase activating protein 33							41	42	42					19																	36269483		2203	4300	6503	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36269483G>A	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.388G>A	19.37:g.36269483G>A	ENSP00000007510:p.Glu130Lys					ARHGAP33_ENST00000378944.5_5'UTR|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.E130K|ARHGAP33_ENST00000221905.1_3'UTR	p.E130K			O14559	RHG33_HUMAN			5	532	+			130			PX; atypical.		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.388G>A		.	.	.	.	.	.	.	.	.	.	G	18.52	3.641309	0.67244	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000221905	T;T;T	0.28895	1.59;1.59;1.59	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	L	0.52573	1.65	0.43010	D	0.994544	D;D	0.76494	0.999;0.998	P;P	0.59546	0.859;0.859	T	0.09684	-1.0663	10	0.13108	T	0.6	.	12.5559	0.56252	0.0803:0.0:0.9197:0.0	.	148;130	O14559-12;O14559-11	.;.	K	130;130;148	ENSP00000007510:E130K;ENSP00000320038:E130K;ENSP00000221905:E148K	ENSP00000007510:E130K	E	+	1	0	ARHGAP33	40961323	1.000000	0.71417	0.995000	0.50966	0.632000	0.37999	5.141000	0.64814	2.643000	0.89663	0.655000	0.94253	GAG		0.597	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		10	32	0	0	0	1	0	10	32					A	36269483	G	A	36269483	3	1	471	1	0	0	0	0	1	0	0	0	882	1059	37	2	406	2	ARHGAP33	19	36269483	Missense_Mutation	SNP	G	TCGA-YL-A9WK-01A-11D-A377-08	28572105	36269483	22859500	38	31789											
LILRA3	11026	broad.mit.edu	37	chr19	54804140	54804140	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccctcttcaaatctcacCgagacagatcaggaccgtga	11	8	7	15	2	4	3	3	1	2	2	6	5	5	4	4	1	0	0	4	1	1	1	rs369073490		TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr19:54804140C>T	ENST00000251390.3	-	1	125	c.34G>A	c.(34-36)Ggg>Agg	p.G12R	LILRA3_ENST00000391745.1_Splice_Site_p.G29R|LILRA3_ENST00000391744.3_Splice_Site_p.G12R	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	12					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAAATCTCACCGAGACAGATC	0.592																																						ENST00000391745.1																			0				NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.e5+1		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3		C	ARG/GLY,ARG/GLY	0,4390		0,0,2195	126	98	108		34,34	-0.5	0	19		108	1,8331		0,1,4165	no	missense-near-splice,missense-near-splice	LILRA3	NM_001172654.1,NM_006865.3	125,125	0,1,6360	TT,TC,CC		0.012,0.0,0.0079	,	12/376,12/440	54804140	1,12721	2195	4166	6361	SO:0001630	splice_region_variant	0							g.chr19:54804140C>T	U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.34+1G>A	19.37:g.54804140C>T						LILRA3_ENST00000251390.3_Splice_Site_p.G12_splice|LILRA3_ENST00000391744.3_Splice_Site_p.G12_splice	p.G29_splice						GBM - Glioblastoma multiforme(193;0.105)	5	401	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Splice_Site	SNP	ENST00000251390.3	37	c.85_splice	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663522	0.29515	0.0	1.2E-4	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.01051	5.59;5.4;5.53	1.96	-0.469	0.12142	.	0.324362	0.22175	N	0.063581	T	0.01940	0.0061	M	0.92026	3.265	0.09310	N	1	P;P;D	0.54601	0.678;0.47;0.967	B;B;B	0.36766	0.232;0.127;0.081	T	0.42849	-0.9427	9	.	.	.	.	4.6722	0.12694	0.0:0.6467:0.0:0.3533	.	12;12;12	E7EU74;Q8N6C8;B5ME96	.;LIRA3_HUMAN;.	R	12;12;29	ENSP00000251390:G12R;ENSP00000375624:G12R;ENSP00000375625:G29R	.	G	-	1	0	LILRA3	59495952	0.196000	0.23350	0.008000	0.14137	0.340000	0.28889	0.170000	0.16663	-0.003000	0.14444	0.485000	0.47835	GGG		0.592	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1		Missense_Mutation	5	45	0	0	0	1	0	5	45					T	54804140	C	T	54804140	5	4	471	1	0	0	0	0	0	0	1	0	8786	666	23	2	1313	2	LILRA3	19	54804140	Splice_Site	SNP	C	TCGA-YL-A9WK-01A-11D-A377-08	18534657	54804140	4324843	39	31790											
ZNF586	54807	broad.mit.edu	37	chr19	58288003	58288003	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatgcctgtaccgtgacgtGatgctggagaccttgacact	9	10	12	10	2	0	5	0	3	0	2	0	6	0	5	3	1	3	2	3	1	1	2			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr19:58288003G>A	ENST00000396154.2	+	2	302	c.129G>A	c.(127-129)gtG>gtA	p.V43V	ZNF586_ENST00000396150.4_Intron|ZNF586_ENST00000391702.3_De_novo_Start_InFrame|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	43	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACCGTGACGTGATGCTGGAGA	0.473																																						ENST00000391702.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15								zinc finger protein 586							300	294	296					19																	58288003		2202	4300	6502	SO:0001819	synonymous_variant	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58288003G>A	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"Zinc fingers, C2H2-type", "-"	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.129G>A	19.37:g.58288003G>A						ZNF586_ENST00000396150.4_Intron|ZNF586_ENST00000396154.2_Silent_p.V43V|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron		NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	0	367	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)						A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Translation_Start_Site	SNP	ENST00000396154.2	37		CCDS42640.1																																																																																				0.473	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652		54	129	0	0	0	1	0	54	129					A	58288003	G	A	58288003	2	1	471	1	0	0	0	0	0	0	0	1	18016	1277	45	3		3	ZNF586	19	58288003	Silent	SNP	G	TCGA-YL-A9WK-01A-11D-A377-08	3483863	58288003	840980	40	31791											
PCNT	5116	broad.mit.edu	37	chr21	47773070	47773070	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtggaagatttagaacaGctgaagcagcgagaaaaaac	17	6	12	6	2	0	4	0	1	0	3	0	6	0	5	0	1	5	2	0	1	7	2			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chr21:47773070G>A	ENST00000359568.5	+	10	1616	c.1509G>A	c.(1507-1509)caG>caA	p.Q503Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	503	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				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)					ATTTAGAACAGCTGAAGCAGC	0.463																																						ENST00000359568.5																			0				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						c.(1507-1509)caG>caA		pericentrin							60	63	62					21																	47773070		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47773070G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1509G>A	21.37:g.47773070G>A						PCNT_ENST00000480896.1_3'UTR	p.Q503Q	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			10	1616	+	Breast(49;0.112)		503			Glu-rich.		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.1509G>A	CCDS33592.1																																																																																				0.463	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		16	38	0	0	0	1	0	16	38					A	47773070	G	A	47773070	2	1	471	1	0	0	0	0	0	0	0	1	11590	962	34	3		3	PCNT	21	47773070	Silent	SNP	G	TCGA-YL-A9WK-01A-11D-A377-08		47773070	356825	41	31792											
KDM6A	7403	broad.mit.edu	37	chrX	44894231	44894231	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactttgtccaatgctgaaaGtaagtattattaagtactgt	13	15	7	6	0	0	1	0	1	0	0	1	1	1	1	1	0	2	4	1	0	7	6			TCGA-YL-A9WK-01A-11D-A377-08	TCGA-YL-A9WK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c0aa301-47a5-4e4f-bba7-2d4928ad174f	c1021edb-96b3-4849-9d2f-23a76cf0dd31	g.chrX:44894231G>A	ENST00000377967.4	+	7	660		c.e7+1		KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(12)|p.0?(6)|p.?(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AATGCTGAAAGTAAGTATTAT	0.328			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		20	No detectable mRNA/protein(12)|Whole gene deletion(6)|Unknown(2)	p.0(12)|p.0?(6)|p.?(2)	haematopoietic_and_lymphoid_tissue(11)|oesophagus(4)|breast(2)|pancreas(2)|soft_tissue(1)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.e7+1		lysine (K)-specific demethylase 6A							222	175	191					X																	44894231		2203	4300	6503	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44894231G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.619+1G>A	X.37:g.44894231G>A						KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site		NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			7	660	+								Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	37		CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600216	0.87055	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000542299	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2585	0.90025	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44779175	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.471000	0.90403	2.337000	0.79520	0.600000	0.82982	.		0.328	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Intron	5	46	0	0	0	1	0	5	46					A	44894231	G	A	44894231	5	1	471	1	0	0	0	0	0	0	1	0	8137	1043	36	3	646	3	KDM6A	23	44894231	Splice_Site	SNP	G	TCGA-YL-A9WK-01A-11D-A377-08		44894231	110376329	42	31793											
HPCAL4	51440	broad.mit.edu	37	chr1	40149730	40149730	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaccgacagggcgcagAtgaactcccggaagtcgatg	11	5	15	10	4	0	3	0	2	0	1	2	6	1	4	2	3	1	1	2	3	2	0			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr1:40149730A>T	ENST00000372844.3	-	3	648	c.257T>A	c.(256-258)aTc>aAc	p.I86N		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	86	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	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)			CAGGGCGCAGATGAACTCCCG	0.642																																						ENST00000372844.3																			0				breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8						c.(256-258)aTc>aAc		hippocalcin like 4							55	53	54					1																	40149730		2203	4300	6503	SO:0001583	missense	51440				central nervous system development	intracellular	calcium ion binding	g.chr1:40149730A>T	AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"EF-hand domain containing"	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.257T>A	1.37:g.40149730A>T	ENSP00000361935:p.Ile86Asn						p.I86N	NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	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)		3	648	-	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)	86			EF-hand 2.		B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	ENST00000372844.3	37	c.257T>A	CCDS441.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262696	0.59431	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.69685	-0.42	3.51	2.36	0.29203	EF-hand-like domain (1);	0.114404	0.64402	D	0.000015	T	0.76118	0.3943	M	0.65677	2.01	0.80722	D	1	D	0.60575	0.988	D	0.66196	0.942	T	0.76971	-0.2761	10	0.87932	D	0	.	10.4965	0.44780	0.8363:0.1637:0.0:0.0	.	86	Q9UM19	HPCL4_HUMAN	N	86;78	ENSP00000361935:I86N	ENSP00000361935:I86N	I	-	2	0	HPCAL4	39922317	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	9.005000	0.93587	0.700000	0.31782	-0.648000	0.03929	ATC		0.642	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025640.1	NM_016257		9	18	0	0	0	1	0	9	18					T	40149730	A	T	40149730	3	4	472	1	0	0	0	0	1	0	0	0	7331	333	12	5	326	5	HPCAL4	1	40149730	Missense_Mutation	SNP	A	TCGA-YL-A9WL-01A-11D-A41K-08		40149730	209100891	1	31794											
MSH4	4438	broad.mit.edu	37	chr1	76333274	76333274	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacttgtggatcctttaaagGtaatttatgtgtgtgtatcg	10	17	10	4	1	0	0	0	0	0	0	2	1	1	1	1	2	1	2	1	2	6	7			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr1:76333274G>T	ENST00000263187.3	+	9	1409		c.e9+1			NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4						ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCCTTTAAAGGTAATTTATGT	0.294								Mismatch excision repair (MMR)																														ENST00000263187.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.e9+1	Mismatch excision repair (MMR)	mutS homolog 4							82	85	84					1																	76333274		2202	4295	6497	SO:0001630	splice_region_variant	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76333274G>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1305+1G>T	1.37:g.76333274G>T								NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN			9	1409	+								Q5T4U6|Q8NEB3|Q9UNP8	Splice_Site	SNP	ENST00000263187.3	37		CCDS670.1	.	.	.	.	.	.	.	.	.	.	g	18.09	3.546358	0.65198	.	.	ENSG00000057468	ENST00000263187	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2278	0.82311	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSH4	76105862	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.754000	0.68743	2.441000	0.82636	0.585000	0.79938	.		0.294	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440	Intron	8	19	1	0	1.12685e-05	1	1.1738e-05	8	19					T	76333274	G	T	76333274	5	4	472	1	0	0	0	0	0	0	1	0	9872	1275	44	5	1340	5	MSH4	1	76333274	Splice_Site	SNP	G	TCGA-YL-A9WL-01A-11D-A41K-08	36183544	76333274	172917347	2	31795											
KCNA2	3737	broad.mit.edu	37	chr1	111146236	111146236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcgcacatagggaacccActatctttcccccaatggta	12	9	6	14	1	1	0	0	0	1	0	3	1	2	1	3	2	1	2	3	2	6	4			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr1:111146236A>G	ENST00000485317.1	-	3	1842	c.1169T>C	c.(1168-1170)gTg>gCg	p.V390A	KCNA2_ENST00000316361.4_Missense_Mutation_p.V390A|KCNA2_ENST00000440270.1_Missense_Mutation_p.V390A|KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000525120.1_5'Flank			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	390					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	TAGGGAACCCACTATCTTTCC	0.517																																					Pancreas(18;568 735 10587 23710 36357)	ENST00000485317.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1168-1170)gTg>gCg		potassium voltage-gated channel, shaker-related subfamily, member 2							84	85	84					1																	111146236		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111146236A>G	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.1169T>C	1.37:g.111146236A>G	ENSP00000433109:p.Val390Ala					KCNA2_ENST00000440270.1_Missense_Mutation_p.V390A|KCNA2_ENST00000316361.4_Missense_Mutation_p.V390A|KCNA2_ENST00000369770.3_Intron	p.V390A			P16389	KCNA2_HUMAN		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)	3	1842	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	390					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.1169T>C	CCDS827.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405486	0.62288	.	.	ENSG00000177301	ENST00000485317;ENST00000440270;ENST00000316361	D;D;D	0.98585	-5.01;-5.01;-5.01	5.4	5.4	0.78164	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98940	0.9640	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99849	1.1069	10	0.87932	D	0	.	15.4214	0.75015	1.0:0.0:0.0:0.0	.	390	P16389	KCNA2_HUMAN	A	390	ENSP00000433109:V390A;ENSP00000415257:V390A;ENSP00000314520:V390A	ENSP00000314520:V390A	V	-	2	0	KCNA2	110947759	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.277000	0.95755	2.037000	0.60232	0.533000	0.62120	GTG		0.517	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		5	59	0	0	0	1	0	5	59					G	111146236	A	G	111146236	3	3	472	1	0	0	0	0	1	0	0	0	8003	159	6	4	334	4	KCNA2	1	111146236	Missense_Mutation	SNP	A	TCGA-YL-A9WL-01A-11D-A41K-08	34812962	111146236	138104385	3	31796											
WNT3A	89780	broad.mit.edu	37	chr1	228210491	228210491	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacgtggagatcatgcccagCgtggccgagggcatcaagat	10	7	14	10	3	2	2	2	0	0	2	2	4	2	2	2	3	3	1	2	3	2	1	rs374327556		TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr1:228210491C>A	ENST00000284523.1	+	2	273	c.195C>A	c.(193-195)agC>agA	p.S65R	WNT3A_ENST00000366753.2_Missense_Mutation_p.S65R	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	65					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TCATGCCCAGCGTGGCCGAGG	0.652																																						ENST00000284523.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(193-195)agC>agA		wingless-type MMTV integration site family, member 3A							55	53	54					1																	228210491		2203	4300	6503	SO:0001583	missense	89780				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	g.chr1:228210491C>A	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"Wingless-type MMTV integration sites", "Endogenous ligands"	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.195C>A	1.37:g.228210491C>A	ENSP00000284523:p.Ser65Arg					WNT3A_ENST00000366753.2_Missense_Mutation_p.S65R	p.S65R	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN			2	273	+		Prostate(94;0.0405)	65					Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	c.195C>A	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452720	0.63290	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.77620	-1.11;-1.11	4.47	-2.22	0.06952	.	0.208574	0.50627	D	0.000106	D	0.86041	0.5838	M	0.88842	2.985	0.51767	D	0.999937	P;P	0.50943	0.94;0.891	D;P	0.65573	0.936;0.538	D	0.83875	0.0276	10	0.40728	T	0.16	.	11.0177	0.47698	0.0:0.5099:0.0:0.4901	.	65;65	P56704;Q3SY79	WNT3A_HUMAN;.	R	65	ENSP00000284523:S65R;ENSP00000355715:S65R	ENSP00000284523:S65R	S	+	3	2	WNT3A	226277114	0.071000	0.21146	0.991000	0.47740	0.985000	0.73830	-0.542000	0.06091	-0.421000	0.07416	-0.224000	0.12420	AGC		0.652	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		3	28	1	0	0.115264	1	0.115264	3	28					A	228210491	C	A	228210491	3	1	472	1	0	0	0	0	1	0	0	0	17386	767	27	5	201	5	WNT3A	1	228210491	Missense_Mutation	SNP	C	TCGA-YL-A9WL-01A-11D-A41K-08	117064255	228210491	21040130	4	31797											
ACTN2	88	broad.mit.edu	37	chr1	236882229	236882229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacctgaccggggaaaaatgCggttccacaaaattgctaat	15	8	9	9	2	0	1	0	1	0	0	1	2	1	2	3	3	3	2	3	3	6	3			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr1:236882229C>T	ENST00000366578.4	+	3	443	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	ACTN2_ENST00000542672.1_Missense_Mutation_p.R93W|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	93	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGGAAAAATGCGGTTCCACAA	0.483																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(277-279)Cgg>Tgg		actinin, alpha 2							128	123	124					1																	236882229		2203	4300	6503	SO:0001583	missense	88				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	g.chr1:236882229C>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.277C>T	1.37:g.236882229C>T	ENSP00000355537:p.Arg93Trp					ACTN2_ENST00000542672.1_Missense_Mutation_p.R93W|ACTN2_ENST00000492634.1_3'UTR	p.R93W	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		3	443	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	93			Actin-binding.|CH 1.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.277C>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705444	0.89018	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.64260	-0.09;-0.09	5.56	5.56	0.83823	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.87609	0.6220	H	0.98027	4.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.91745	0.5407	10	0.87932	D	0	.	18.6602	0.91469	0.0:1.0:0.0:0.0	.	93;93	B2RCS5;P35609	.;ACTN2_HUMAN	W	93	ENSP00000443495:R93W;ENSP00000355537:R93W	ENSP00000355537:R93W	R	+	1	2	ACTN2	234948852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.709000	0.54853	2.775000	0.95449	0.655000	0.94253	CGG		0.483	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		3	42	0	0	0	1	0	3	42					T	236882229	C	T	236882229	3	4	472	1	0	0	0	0	1	0	0	0	205	759	27	1	287	1	ACTN2	1	236882229	Missense_Mutation	SNP	C	TCGA-YL-A9WL-01A-11D-A41K-08	8671738	236882229	12368392	5	31798											
STAT4	6775	broad.mit.edu	37	chr2	191937909	191937909	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactttgtaaggatttctctAgaggcccctggaaaaagaat	14	11	9	7	0	1	2	0	0	1	2	2	4	1	4	2	3	1	1	2	3	6	4			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr2:191937909A>G	ENST00000392320.2	-	5	694	c.380T>C	c.(379-381)cTa>cCa	p.L127P	STAT4_ENST00000358470.4_Missense_Mutation_p.L127P	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	127					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			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)			GGATTTCTCTAGAGGCCCCTG	0.398																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(379-381)cTa>cCa		signal transducer and activator of transcription 4							97	109	105					2																	191937909		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191937909A>G		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.380T>C	2.37:g.191937909A>G	ENSP00000376134:p.Leu127Pro					STAT4_ENST00000358470.4_Missense_Mutation_p.L127P	p.L127P	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		5	694	-			127					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.380T>C	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.232605	0.58777	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.89343	-2.5;-2.5	5.92	5.92	0.95590	.	0.163209	0.42053	D	0.000780	D	0.91439	0.7298	L	0.48642	1.525	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.63488	0.915;0.915	D	0.89585	0.3823	10	0.25751	T	0.34	-1.2591	16.3655	0.83319	1.0:0.0:0.0:0.0	.	127;127	B4DV04;Q14765	.;STAT4_HUMAN	P	127	ENSP00000351255:L127P;ENSP00000376134:L127P	ENSP00000351255:L127P	L	-	2	0	STAT4	191646154	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.227000	0.89787	2.257000	0.74773	0.455000	0.32223	CTA		0.398	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		49	58	0	0	0	1	0	49	58					G	191937909	A	G	191937909	3	3	472	1	0	0	0	0	1	0	0	0	15266	420	15	4	1946	4	STAT4	2	191937909	Missense_Mutation	SNP	A	TCGA-YL-A9WL-01A-11D-A41K-08		191937909	51261464	6	31799											
CNTN6	27255	broad.mit.edu	37	chr3	1371511	1371511	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtccagttaaaaaaaagtCttttgttcaagttggtgggg	13	13	11	4	0	2	0	1	0	1	0	3	0	3	0	1	3	0	3	1	3	6	5	rs575054347	byFrequency	TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr3:1371511C>A	ENST00000446702.2	+	11	1883	c.1256C>A	c.(1255-1257)tCt>tAt	p.S419Y	CNTN6_ENST00000350110.2_Missense_Mutation_p.S419Y|CNTN6_ENST00000539053.1_Missense_Mutation_p.S347Y			Q9UQ52	CNTN6_HUMAN	contactin 6	419	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				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)		AAAAAAAAGTCTTTTGTTCAA	0.383													C|||	6	0.00119808	0	0	5008	,	,		14223	0		0	False		,,,				2504	0.0061					ENST00000446702.2																			0				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						c.(1255-1257)tCt>tAt		contactin 6							81	84	83					3																	1371511		2203	4298	6501	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1371511C>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1256C>A	3.37:g.1371511C>A	ENSP00000407822:p.Ser419Tyr					CNTN6_ENST00000350110.2_Missense_Mutation_p.S419Y|CNTN6_ENST00000539053.1_Missense_Mutation_p.S347Y	p.S419Y			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	11	1883	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	419			Ig-like C2-type 5.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.1256C>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274467	0.59649	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.67171	-0.25;-0.25;-0.25	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.48767	D	0.000173	T	0.65365	0.2684	N	0.05230	-0.09	0.31186	N	0.701492	D	0.89917	1.0	D	0.91635	0.999	T	0.64356	-0.6427	10	0.19147	T	0.46	.	18.0493	0.89343	0.0:1.0:0.0:0.0	.	419	Q9UQ52	CNTN6_HUMAN	Y	419;347;419	ENSP00000407822:S419Y;ENSP00000442791:S347Y;ENSP00000341882:S419Y	ENSP00000341882:S419Y	S	+	2	0	CNTN6	1346511	0.957000	0.32711	0.027000	0.17364	0.401000	0.30781	4.026000	0.57232	2.689000	0.91719	0.563000	0.77884	TCT		0.383	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		24	41	1	0	1.1804e-14	1	1.28304e-14	24	41					A	1371511	C	A	1371511	3	1	472	1	0	0	0	0	1	0	0	0	3645	913	32	5	1294	5	CNTN6	3	1371511	Missense_Mutation	SNP	C	TCGA-YL-A9WL-01A-11D-A41K-08		1371511	196650919	7	31800											
ALCAM	214	broad.mit.edu	37	chr3	105086325	105086325	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaccgtcttcaggccaGgtgagcaagggcctgggagc	7	5	15	14	2	2	1	1	1	1	0	2	2	2	2	5	4	2	1	5	4	1	1			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr3:105086325G>C	ENST00000306107.5	+	1	573	c.73G>C	c.(73-75)Ggc>Cgc	p.G25R	ALCAM_ENST00000472644.2_Splice_Site_p.G25R	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	25					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CTTCAGGCCAGGTGAGCAAGG	0.652																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.e1+1		activated leukocyte cell adhesion molecule							58	58	58					3																	105086325		2203	4300	6503	SO:0001630	splice_region_variant	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105086325G>C	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	400	protein-coding gene	gene with protein product		601662	"activated leucocyte cell adhesion molecule"			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.73+1G>C	3.37:g.105086325G>C						ALCAM_ENST00000472644.2_Splice_Site_p.G25_splice	p.G25_splice	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			1	573	+			25					B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Splice_Site	SNP	ENST00000306107.5	37	c.73_splice	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.674938	0.67928	.	.	ENSG00000170017	ENST00000306107;ENST00000472644	T;T	0.54866	0.55;0.91	4.75	4.75	0.60458	.	0.289862	0.36444	N	0.002597	T	0.62720	0.2451	L	0.50333	1.59	0.80722	D	1	P;P;D	0.69078	0.942;0.942;0.997	P;P;D	0.71870	0.826;0.826;0.975	T	0.56068	-0.8040	10	0.19590	T	0.45	-10.6932	13.1284	0.59368	0.0:0.0:1.0:0.0	.	25;25;25	B4DTU0;Q13740;Q6PEY4	.;CD166_HUMAN;.	R	25	ENSP00000305988:G25R;ENSP00000419236:G25R	ENSP00000305988:G25R	G	+	1	0	ALCAM	106569015	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	4.035000	0.57297	2.470000	0.83445	0.561000	0.74099	GGC		0.652	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627	Missense_Mutation	5	11	0	0	0	1	0	5	11					C	105086325	G	C	105086325	5	2	472	1	0	0	0	0	0	0	1	0	487	1014	35	5	75	5	ALCAM	3	105086325	Splice_Site	SNP	G	TCGA-YL-A9WL-01A-11D-A41K-08	103714814	105086325	92936105	8	31801											
PCDHA11	56138	broad.mit.edu	37	chr5	140250402	140250402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgactcaggctggcagcGcgggaggcgcagttaacaag	9	5	17	10	4	1	0	1	0	0	0	1	2	1	1	0	5	2	4	0	5	2	1			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr5:140250402G>A	ENST00000398640.2	+	1	1714	c.1714G>A	c.(1714-1716)Gcg>Acg	p.A572T	PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	572					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGGCAGCGCGGGAGGCGC	0.677																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1714-1716)Gcg>Acg									81	91	88					5																	140250402		2203	4298	6501	SO:0001583	missense	0							g.chr5:140250402G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1714G>A	5.37:g.140250402G>A	ENSP00000381636:p.Ala572Thr					PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron	p.A572T	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1714	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1714G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.764791	0.00651	.	.	ENSG00000249158	ENST00000398640	T	0.51817	0.69	4.06	-2.55	0.06288	Cadherin-like (1);	.	.	.	.	T	0.19327	0.0464	N	0.08118	0	0.09310	N	1	B;B	0.17268	0.021;0.007	B;B	0.13407	0.009;0.004	T	0.18116	-1.0347	9	0.17369	T	0.5	.	2.2989	0.04157	0.2941:0.117:0.4689:0.12	.	572;572	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	T	572	ENSP00000381636:A572T	ENSP00000381636:A572T	A	+	1	0	PCDHA11	140230586	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.772000	0.04694	-0.756000	0.04703	-1.105000	0.02106	GCG		0.677	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		11	117	0	0	0	1	0	11	117					A	140250402	G	A	140250402	3	1	472	1	0	0	0	0	1	0	0	0	11521	1087	38	1	1716	1	PCDHA11	5	140250402	Missense_Mutation	SNP	G	TCGA-YL-A9WL-01A-11D-A41K-08		140250402	40664858	9	31802											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111888850	111888850	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaaggtagcgctccatccAtttaatgatatcaatgcctc	11	12	6	12	1	1	1	1	1	0	0	4	1	3	1	4	1	2	2	4	1	5	5			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr6:111888850A>T	ENST00000340026.6	-	7	1957	c.1363T>A	c.(1363-1365)Tgg>Agg	p.W455R	TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000368735.1_5'Flank|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.W446R|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.W446R|TRAF3IP2_ENST00000392556.4_Missense_Mutation_p.W34R|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	455	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CGCTCCATCCATTTAATGATA	0.373																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1336-1338)Tgg>Agg		TRAF3 interacting protein 2							120	112	115					6																	111888850		2203	4300	6503	SO:0001583	missense	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111888850A>T	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.1363T>A	6.37:g.111888850A>T	ENSP00000345984:p.Trp455Arg					TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.W446R|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.W455R|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000392556.4_Missense_Mutation_p.W34R	p.W446R	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	6	1814	-		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)	455			SEFIR.		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37	c.1336T>A		.	.	.	.	.	.	.	.	.	.	A	18.97	3.736542	0.69304	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000392556;ENST00000340026;ENST00000359831	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.68952	2.095	0.58432	D	0.999999	D;D	0.61080	0.986;0.989	P;D	0.65323	0.891;0.934	T	0.68500	-0.5392	10	0.87932	D	0	-2.7844	15.7006	0.77538	1.0:0.0:0.0:0.0	.	446;446	O43734-2;Q7Z6Q1	.;.	R	455;446;34;455;446	ENSP00000357750:W446R;ENSP00000376339:W34R;ENSP00000345984:W455R;ENSP00000352889:W446R	ENSP00000345984:W455R	W	-	1	0	TRAF3IP2	111995543	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.965000	0.87945	2.119000	0.64992	0.454000	0.30748	TGG		0.373	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			23	31	0	0	0	1	0	23	31					T	111888850	A	T	111888850	3	4	472	1	0	0	0	0	1	0	0	0	16438	217	8	5	377	5	TRAF3IP2	6	111888850	Missense_Mutation	SNP	A	TCGA-YL-A9WL-01A-11D-A41K-08		111888850	59226217	10	31803											
MUC17	140453	broad.mit.edu	37	chr7	100676840	100676840	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaacaactcctgttgacAccagcacacctgtgaccact	11	10	5	15	0	1	2	1	2	0	0	2	2	2	2	4	0	3	2	4	0	2	2			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr7:100676840A>T	ENST00000306151.4	+	3	2207	c.2143A>T	c.(2143-2145)Acc>Tcc	p.T715S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	715	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTGTTGACACCAGCACACC	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2143-2145)Acc>Tcc		mucin 17, cell surface associated							326	329	328					7																	100676840		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676840A>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2143A>T	7.37:g.100676840A>T	ENSP00000302716:p.Thr715Ser						p.T715S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2207	+	Lung NSC(181;0.136)|all_lung(186;0.182)		715			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2143A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	2.753	-0.259549	0.05791	.	.	ENSG00000169876	ENST00000306151	T	0.02323	4.34	1.22	-2.29	0.06805	.	.	.	.	.	T	0.01695	0.0054	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.49331	-0.8951	9	0.07990	T	0.79	.	2.414	0.04431	0.589:0.0:0.174:0.237	.	715	Q685J3	MUC17_HUMAN	S	715	ENSP00000302716:T715S	ENSP00000302716:T715S	T	+	1	0	MUC17	100463560	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.196000	0.17176	-0.510000	0.06523	-1.988000	0.00451	ACC		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	328	0	0	0	1	0	5	328					T	100676840	A	T	100676840	3	4	472	1	0	0	0	0	1	0	0	0	9974	159	6	5	2153	5	MUC17	7	100676840	Missense_Mutation	SNP	A	TCGA-YL-A9WL-01A-11D-A41K-08		100676840	58461823	11	31804											
CAV2	858	broad.mit.edu	37	chr7	116140406	116140406	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccctctttgaaatcagcaaAtacgtaatgtacaagttcct	13	12	6	10	1	2	1	1	1	1	0	3	1	3	1	2	0	3	4	2	0	6	5			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr7:116140406A>G	ENST00000222693.4	+	2	635	c.243A>G	c.(241-243)aaA>aaG	p.K81K	CAV2_ENST00000462876.1_3'UTR|CAV2_ENST00000393480.2_Silent_p.K81K|CAV2_ENST00000343213.2_Intron|AC002066.1_ENST00000446355.2_RNA	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	81					caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			AAATCAGCAAATACGTAATGT	0.532																																						ENST00000222693.4																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(241-243)aaA>aaG		caveolin 2							186	152	164					7																	116140406		2203	4300	6503	SO:0001819	synonymous_variant	858				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	g.chr7:116140406A>G	AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.243A>G	7.37:g.116140406A>G						CAV2_ENST00000343213.2_Intron|CAV2_ENST00000462876.1_3'UTR|CAV2_ENST00000393480.2_Silent_p.K81K	p.K81K	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		2	635	+	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		81					A4D0U2|Q9UGM7	Silent	SNP	ENST00000222693.4	37	c.243A>G	CCDS5766.1																																																																																				0.532	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059735.4	NM_001233		4	40	0	0	0	1	0	4	40					G	116140406	A	G	116140406	2	3	472	1	0	0	0	0	0	0	0	1	2694	98	4	4		4	CAV2	7	116140406	Silent	SNP	A	TCGA-YL-A9WL-01A-11D-A41K-08	15463566	116140406	42998257	12	31805											
AASS	10157	broad.mit.edu	37	chr7	121758446	121758446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagatatttcatagccaGcatcacggacagcttgcaca	14	8	7	12	1	2	1	2	0	0	1	2	2	2	2	2	1	4	3	2	1	3	4	rs372318479		TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr7:121758446G>A	ENST00000393376.1	-	5	697	c.602C>T	c.(601-603)gCt>gTt	p.A201V	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.A201V			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	201	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TTCATAGCCAGCATCACGGAC	0.423																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(601-603)gCt>gTt		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)	G	VAL/ALA	1,4405		0,1,2202	125	113	117		602	4.8	1	7		117	1,8599		0,1,4299	no	missense	AASS	NM_005763.3	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	201/927	121758446	2,13004	2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121758446G>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.602C>T	7.37:g.121758446G>A	ENSP00000377040:p.Ala201Val					AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.A201V	p.A201V			Q9UDR5	AASS_HUMAN			5	697	-			201			Lysine-ketoglutarate reductase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.602C>T	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	.	12.80	2.046289	0.36085	2.27E-4	1.16E-4	ENSG00000008311	ENST00000393376;ENST00000417368	D;D	0.82344	-1.6;-1.6	4.83	4.83	0.62350	Alanine dehydrogenase/PNT, C-terminal (1);	0.146817	0.64402	D	0.000008	T	0.74876	0.3774	L	0.31526	0.94	0.44652	D	0.997635	B	0.27997	0.197	B	0.26310	0.068	T	0.70389	-0.4885	10	0.19590	T	0.45	-11.0106	18.1702	0.89743	0.0:0.0:1.0:0.0	.	201	Q9UDR5	AASS_HUMAN	V	201	ENSP00000377040:A201V;ENSP00000403768:A201V	ENSP00000351834:A201V	A	-	2	0	AASS	121545682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.185000	0.77714	2.529000	0.85273	0.650000	0.86243	GCT		0.423	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		3	61	0	0	0	1	0	3	61					A	121758446	G	A	121758446	3	1	472	1	0	0	0	0	1	0	0	0	24	971	34	3	2254	3	AASS	7	121758446	Missense_Mutation	SNP	G	TCGA-YL-A9WL-01A-11D-A41K-08	5618040	121758446	37380217	13	31806											
MLL3	58508	broad.mit.edu	37	chr7	151932975	151932975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctcgccccgacagtcctGcacctcgaggtctccgcttt	5	9	8	19	4	1	0	0	0	1	0	5	2	2	0	6	1	1	2	6	1	0	1			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr7:151932975G>A	ENST00000262189.6	-	16	2914	c.2696C>T	c.(2695-2697)gCa>gTa	p.A899V	KMT2C_ENST00000355193.2_Missense_Mutation_p.A899V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	899					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CGACAGTCCTGCACCTCGAGG	0.483																																						ENST00000355193.2																			0											c.(2695-2697)gCa>gTa		lysine (K)-specific methyltransferase 2C																																				SO:0001583	missense	58508							g.chr7:151932975G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2696C>T	7.37:g.151932975G>A	ENSP00000262189:p.Ala899Val					KMT2C_ENST00000262189.6_Missense_Mutation_p.A899V	p.A899V							16	2914	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2696C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520905	0.85495	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84070	-1.8;-1.8	5.1	5.1	0.69264	.	0.000000	0.46145	D	0.000316	D	0.87099	0.6093	L	0.36672	1.1	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.88107	0.2823	10	0.62326	D	0.03	.	17.0444	0.86498	0.0:0.0:1.0:0.0	.	899	Q8NEZ4	MLL3_HUMAN	V	899	ENSP00000262189:A899V;ENSP00000347325:A899V	ENSP00000262189:A899V	A	-	2	0	MLL3	151563908	1.000000	0.71417	0.985000	0.45067	0.978000	0.69477	9.190000	0.94934	2.530000	0.85305	0.650000	0.86243	GCA		0.483	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			6	68	0	0	0	1	0	6	68					A	151932975	G	A	151932975	3	1	472	1	0	0	0	0	1	0	0	0	9622	1319	46	3	12215	3	MLL3	7	151932975	Missense_Mutation	SNP	G	TCGA-YL-A9WL-01A-11D-A41K-08	30174529	151932975	7205688	14	31807											
CSMD3	114788	broad.mit.edu	37	chr8	113331065	113331065	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcataggaaccattgaataCcttgacaaactggaggtgct	14	10	9	8	0	1	2	1	2	0	0	1	4	1	4	2	3	4	1	2	3	5	4			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr8:113331065C>A	ENST00000297405.5	-	47	7605		c.e47+1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						CCATTGAATACCTTGACAAAC	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.e47+1		CUB and Sushi multiple domains 3							86	79	81					8																	113331065		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113331065C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7360+1G>T	8.37:g.113331065C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site		NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			47	7605	-								Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37		CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665366	0.88251	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1059	0.97895	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113400241	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.958000	0.70330	2.770000	0.95276	0.579000	0.79373	.		0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	24	11	1	0	3.08376e-08	1	3.2806e-08	24	11					A	113331065	C	A	113331065	5	1	472	1	0	0	0	0	0	0	1	0	3946	521	18	5	3862	5	CSMD3	8	113331065	Splice_Site	SNP	C	TCGA-YL-A9WL-01A-11D-A41K-08		113331065	33032957	15	31808											
GLDC	2731	broad.mit.edu	37	chr9	6554737	6554737	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggtcttgtgaagatttagGtgcgagacatcagacccgaa	13	9	12	7	2	2	4	1	1	1	3	2	6	2	4	1	2	1	0	1	2	4	3			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr9:6554737G>A	ENST00000321612.6	-	19	2397	c.2247C>T	c.(2245-2247)caC>caT	p.H749H		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	749					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	GAAGATTTAGGTGCGAGACAT	0.557																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2245-2247)caC>caT		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						66	56	59					9																	6554737		2203	4300	6503	SO:0001819	synonymous_variant	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6554737G>A	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2247C>T	9.37:g.6554737G>A							p.H749H	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	19	2397	-		Acute lymphoblastic leukemia(23;0.161)	749					Q2M2F8	Silent	SNP	ENST00000321612.6	37	c.2247C>T	CCDS34987.1																																																																																				0.557	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		6	7	0	0	0	1	0	6	7					A	6554737	G	A	6554737	2	1	472	1	0	0	0	0	0	0	0	1	6433	1252	44	3		3	GLDC	9	6554737	Silent	SNP	G	TCGA-YL-A9WL-01A-11D-A41K-08		6554737	134658694	16	31809											
C9orf156	51531	broad.mit.edu	37	chr9	100678519	100678519	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcctctttctaatcctcaAacaggctcgagaatagctac	12	11	6	12	1	3	1	1	0	2	1	6	3	5	1	2	1	3	2	2	1	5	4			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr9:100678519A>C	ENST00000375119.3	-	2	254	c.178T>G	c.(178-180)Ttg>Gtg	p.L60V	Y_RNA_ENST00000364960.1_RNA|C9orf156_ENST00000478126.1_Intron	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	60	TsaA-like. {ECO:0000255|PROSITE- ProRule:PRU01003}.				viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				CTAATCCTCAAACAGGCTCGA	0.408																																						ENST00000375119.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13						c.(178-180)Ttg>Gtg		chromosome 9 open reading frame 156							87	83	84					9																	100678519		2203	4300	6503	SO:0001583	missense	51531				interspecies interaction between organisms		hydrolase activity	g.chr9:100678519A>C	AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"Nef (lentivirus myristoylated factor) associated protein 1"						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.178T>G	9.37:g.100678519A>C	ENSP00000364260:p.Leu60Val					C9orf156_ENST00000478126.1_Intron	p.L60V	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN			2	254	-		Acute lymphoblastic leukemia(62;0.158)	60					Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Missense_Mutation	SNP	ENST00000375119.3	37	c.178T>G	CCDS6730.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.216944	0.58452	.	.	ENSG00000136932	ENST00000375119;ENST00000375117;ENST00000455506	T;T;T	0.47528	0.84;0.84;0.84	5.42	-0.0818	0.13701	Uncharacterised domain UPF0066, YaeB-like domain (2);Uncharacterised domain UPF0066 (2);	0.000000	0.64402	D	0.000001	T	0.55016	0.1894	L	0.50847	1.595	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.46596	-0.9180	10	0.35671	T	0.21	-11.5804	8.8337	0.35100	0.6373:0.0:0.3627:0.0	.	60	Q9BU70	NAP1_HUMAN	V	60;59;58	ENSP00000364260:L60V;ENSP00000364258:L59V;ENSP00000408473:L58V	ENSP00000364258:L59V	L	-	1	2	C9orf156	99718340	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	1.680000	0.37607	-0.185000	0.10550	-0.254000	0.11334	TTG		0.408	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1	NM_016481		3	46	0	0	0	1	0	3	46					C	100678519	A	C	100678519	3	2	472	1	0	0	0	0	1	0	0	0	2465	11	1	5	1163	5	C9orf156	9	100678519	Missense_Mutation	SNP	A	TCGA-YL-A9WL-01A-11D-A41K-08	94123782	100678519	40534912	17	31810											
OR5L1	219437	broad.mit.edu	37	chr11	55579447	55579447	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagctcttaggatccccttcTatagatctaatgtgattaac	11	15	6	9	0	3	2	0	1	3	1	4	3	4	3	2	1	2	1	2	1	6	7			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr11:55579447T>C	ENST00000333973.2	+	1	594	c.505T>C	c.(505-507)Tat>Cat	p.Y169H		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GATCCCCTTCTATAGATCTAA	0.453																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(505-507)Tat>Cat		olfactory receptor, family 5, subfamily L, member 1							219	202	208					11																	55579447		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579447T>C	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.505T>C	11.37:g.55579447T>C	ENSP00000335529:p.Tyr169His						p.Y169H	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	594	+		all_epithelial(135;0.208)	169					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.505T>C	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	t	14.67	2.605695	0.46527	.	.	ENSG00000186117	ENST00000333973	T	0.00076	8.76	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.291255	0.24940	N	0.034386	T	0.00241	0.0007	N	0.17474	0.49	0.09310	N	1	D	0.69078	0.997	D	0.73708	0.981	T	0.63625	-0.6595	10	0.87932	D	0	-29.0512	11.2259	0.48884	0.0:0.0:0.0:1.0	.	169	Q8NGL2	OR5L1_HUMAN	H	169	ENSP00000335529:Y169H	ENSP00000335529:Y169H	Y	+	1	0	OR5L1	55336023	0.969000	0.33509	0.001000	0.08648	0.301000	0.27625	2.995000	0.49441	1.529000	0.49120	0.352000	0.21897	TAT		0.453	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		70	73	0	0	0	1	0	70	73					C	55579447	T	C	55579447	3	2	472	1	0	0	0	0	1	0	0	0	11170	1522	53	4	507	4	OR5L1	11	55579447	Missense_Mutation	SNP	T	TCGA-YL-A9WL-01A-11D-A41K-08		55579447	79427069	18	31811											
MS4A6A	64231	broad.mit.edu	37	chr11	59942906	59942906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggctgtatagcagtccGtggtataaagtgaatcatga	11	13	11	6	1	1	2	1	2	0	0	2	2	2	2	1	2	1	4	1	2	6	5	rs530964700		TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr11:59942906G>A	ENST00000530839.1	-	6	1010	c.518C>T	c.(517-519)aCg>aTg	p.T173M	MS4A6A_ENST00000426738.2_Missense_Mutation_p.T128M|MS4A6A_ENST00000323961.3_Missense_Mutation_p.T173M|MS4A6A_ENST00000412309.2_Missense_Mutation_p.T201M|MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000529054.1_Missense_Mutation_p.T201M|MS4A6A_ENST00000420732.2_Intron|MS4A6A_ENST00000528851.1_Missense_Mutation_p.T173M	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	173						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATAGCAGTCCGTGGTATAAAG	0.368																																						ENST00000528851.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(517-519)aCg>aTg		membrane-spanning 4-domains, subfamily A, member 6A							83	81	81					11																	59942906		2201	4295	6496	SO:0001583	missense	64231					integral to membrane	receptor activity	g.chr11:59942906G>A	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.518C>T	11.37:g.59942906G>A	ENSP00000436979:p.Thr173Met					MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000323961.3_Missense_Mutation_p.T173M|MS4A6A_ENST00000426738.2_Missense_Mutation_p.T128M|MS4A6A_ENST00000529054.1_Missense_Mutation_p.T201M|MS4A6A_ENST00000530839.1_Missense_Mutation_p.T173M|MS4A6A_ENST00000420732.2_Intron|MS4A6A_ENST00000412309.2_Missense_Mutation_p.T201M	p.T173M			Q9H2W1	M4A6A_HUMAN			5	658	-			173					A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	ENST00000530839.1	37	c.518C>T	CCDS7981.1	.	.	.	.	.	.	.	.	.	.	G	2.061	-0.415295	0.04766	.	.	ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000530839;ENST00000529054;ENST00000426738;ENST00000412309	T;T;T;T;T;T	0.02369	4.32;4.32;4.32;4.32;4.32;4.32	4.58	-9.16	0.00694	.	4.691860	0.00424	N	0.000075	T	0.01835	0.0058	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.09022	0.002;0.001;0.002;0.002	B;B;B;B	0.09377	0.004;0.002;0.002;0.002	T	0.36841	-0.9731	10	0.44086	T	0.13	.	1.9402	0.03345	0.3573:0.318:0.2011:0.1236	.	128;201;201;173	E7EMT7;F8W9K1;E9PSA9;Q9H2W1	.;.;.;M4A6A_HUMAN	M	173;173;173;201;128;201	ENSP00000315878:T173M;ENSP00000431901:T173M;ENSP00000436979:T173M;ENSP00000435844:T201M;ENSP00000392770:T128M;ENSP00000403212:T201M	ENSP00000315878:T173M	T	-	2	0	MS4A6A	59699482	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.927000	0.00690	-3.224000	0.00211	-4.521000	0.00005	ACG		0.368	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			13	11	0	0	0	1	0	13	11					A	59942906	G	A	59942906	3	1	472	1	0	0	0	0	1	0	0	0	9864	1145	40	1	267	1	MS4A6A	11	59942906	Missense_Mutation	SNP	G	TCGA-YL-A9WL-01A-11D-A41K-08	4363459	59942906	75063610	19	31812											
PDGFD	80310	broad.mit.edu	37	chr11	104034551	104034551	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatctcgcctgaggttggcGttgcgcaaagctttgatgga	7	11	13	10	3	1	2	0	2	1	0	2	3	1	3	2	3	2	4	2	3	1	3			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr11:104034551G>A	ENST00000393158.2	-	1	284	c.105C>T	c.(103-105)aaC>aaT	p.N35N	PDGFD_ENST00000302251.5_Silent_p.N35N			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	35					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TGAGGTTGGCGTTGCGCAAAG	0.423											OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(103-105)aaC>aaT		platelet derived growth factor D							68	69	69					11																	104034551		2202	4299	6501	SO:0001819	synonymous_variant	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:104034551G>A	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"spinal cord derived growth factor B"	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.105C>T	11.37:g.104034551G>A			OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1378	PDGFD_ENST00000393158.2_Silent_p.N35N	p.N35N	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	1	556	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	35					A8K9T6|Q9BWV5	Silent	SNP	ENST00000393158.2	37	c.105C>T	CCDS41703.1																																																																																				0.423	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		11	30	0	0	0	1	0	11	30					A	104034551	G	A	104034551	2	1	472	1	0	0	0	0	0	0	0	1	11660	1136	40	1		1	PDGFD	11	104034551	Silent	SNP	G	TCGA-YL-A9WL-01A-11D-A41K-08	44091645	104034551	30971965	20	31813											
NACA	4666	broad.mit.edu	37	chr12	57109973	57109973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgattcaggtttaggaaggaCcttctcaaaggcagctgctg	10	11	12	8	0	2	1	2	1	1	0	3	3	2	3	1	4	2	4	1	4	3	4			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr12:57109973C>T	ENST00000454682.1	-	3	5622	c.5341G>A	c.(5341-5343)Gtc>Atc	p.V1781I	NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.V628I|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1781	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTAGGAAGGACCTTCTCAAAG	0.557			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(5341-5343)Gtc>Atc		nascent polypeptide-associated complex alpha subunit							52	48	49					12																	57109973		1568	3582	5150	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57109973C>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5341G>A	12.37:g.57109973C>T	ENSP00000403817:p.Val1781Ile					NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.V628I|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	p.V1781I	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	5622	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.5341G>A		.	.	.	.	.	.	.	.	.	.	C	9.349	1.065076	0.20067	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.53640	0.61;0.65	3.63	0.326	0.15908	.	.	.	.	.	T	0.24736	0.0600	N	0.08118	0	0.09310	N	1	P;P	0.42827	0.791;0.764	B;B	0.41236	0.351;0.224	T	0.11542	-1.0583	9	0.62326	D	0.03	.	3.7258	0.08474	0.1875:0.5135:0.0:0.299	.	1781;628	E9PAV3;F8VU71	.;.	I	1781;628	ENSP00000403817:V1781I;ENSP00000448035:V628I	ENSP00000403817:V1781I	V	-	1	0	NACA	55396240	0.005000	0.15991	0.007000	0.13788	0.293000	0.27360	0.201000	0.17276	0.217000	0.20800	0.484000	0.47621	GTC		0.557	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		13	15	0	0	0	1	0	13	15					T	57109973	C	T	57109973	3	4	472	1	0	0	0	0	1	0	0	0	10133	507	18	3	923	3	NACA	12	57109973	Missense_Mutation	SNP	C	TCGA-YL-A9WL-01A-11D-A41K-08		57109973	76741922	21	31814											
MED13L	23389	broad.mit.edu	37	chr12	116446367	116446367	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagggcctaatcccacaataTaaggctgtctcgctgacctc	10	9	9	13	1	1	1	0	1	1	0	4	2	2	1	3	2	0	2	3	2	4	3			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr12:116446367T>C	ENST00000281928.3	-	10	2057	c.1851A>G	c.(1849-1851)ttA>ttG	p.L617L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	617						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCCCACAATATAAGGCTGTCT	0.522																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(1849-1851)ttA>ttG		mediator complex subunit 13-like							60	53	56					12																	116446367		2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116446367T>C	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1851A>G	12.37:g.116446367T>C							p.L617L	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	10	2057	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		617					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.1851A>G	CCDS9177.1																																																																																				0.522	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			18	11	0	0	0	1	0	18	11					C	116446367	T	C	116446367	2	2	472	1	0	0	0	0	0	0	0	1	9431	1403	49	4		4	MED13L	12	116446367	Silent	SNP	T	TCGA-YL-A9WL-01A-11D-A41K-08	59336394	116446367	17405528	22	31815											
MLXIP	22877	broad.mit.edu	37	chr12	122620180	122620180	+	Frame_Shift_Del	DEL	G	G	-																															gcgagcaggtcccgctgcatGggggcagcccccaggtcact																										TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr12:122620180delG	ENST00000319080.7	+	11	2131	c.1999delG	c.(1999-2001)gggfs	p.G668fs	MLXIP_ENST00000538698.1_Frame_Shift_Del_p.G275fs					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCCGCTGCATGGGGGCAGCCC	0.677																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(1999-2001)ggfs		MLX interacting protein							11	15	14					12																	122620180		1935	4116	6051	SO:0001589	frameshift_variant	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122620180delG	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1999delG	12.37:g.122620180delG	ENSP00000312834:p.Gly668fs					MLXIP_ENST00000538698.1_Frame_Shift_Del_p.G275fs	p.G668fs			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	11	2131	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	668						Frame_Shift_Del	DEL	ENST00000319080.7	37	c.1999delG																																																																																					0.677	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		2	4						2	4	---	---	---	---	-	122620180	G	-	122620180	7	5	472	1	0	1	0	1	0	0	0	0	9636	1348	47	0	2041	0	MLXIP	12	122620180	Frame_Shift_Del	DEL	G	TCGA-YL-A9WL-01A-11D-A41K-08	6173813	122620180	11231715	23	31816											
TTLL5	23093	broad.mit.edu	37	chr14	76147908	76147908	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacgttatcatttgtcttatAagattgtacgaacggacagt	13	14	8	6	3	2	1	1	0	1	1	2	3	2	2	0	1	3	2	0	1	6	6			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr14:76147908A>G	ENST00000298832.9	+	4	407	c.202A>G	c.(202-204)Aag>Gag	p.K68E	TTLL5_ENST00000556977.1_Missense_Mutation_p.K68E|TTLL5_ENST00000286650.5_Missense_Mutation_p.K68E|TTLL5_ENST00000557636.1_Missense_Mutation_p.K68E	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	68	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTTGTCTTATAAGATTGTACG	0.343																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(202-204)Aag>Gag		tubulin tyrosine ligase-like family, member 5							144	134	137					14																	76147908		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76147908A>G	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.202A>G	14.37:g.76147908A>G	ENSP00000298832:p.Lys68Glu					TTLL5_ENST00000557636.1_Missense_Mutation_p.K68E|TTLL5_ENST00000556977.1_Missense_Mutation_p.K68E|TTLL5_ENST00000286650.5_Missense_Mutation_p.K68E	p.K68E	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	4	407	+			68			TTL.		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.202A>G	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	A	32	5.132042	0.94473	.	.	ENSG00000119685	ENST00000557003;ENST00000556977;ENST00000557636;ENST00000286650;ENST00000298832	T;T;T	0.08370	3.69;3.1;3.74	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.38161	0.1030	M	0.92459	3.31	0.80722	D	1	D;D;D	0.89917	0.961;0.998;1.0	D;D;D	0.79784	0.919;0.989;0.993	T	0.49753	-0.8906	10	0.72032	D	0.01	.	14.7143	0.69257	1.0:0.0:0.0:0.0	.	68;68;68	G3V2J9;Q6EMB2;Q6EMB2-3	.;TTLL5_HUMAN;.	E	68	ENSP00000450713:K68E;ENSP00000286650:K68E;ENSP00000298832:K68E	ENSP00000286650:K68E	K	+	1	0	TTLL5	75217661	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.717000	0.91425	2.125000	0.65367	0.533000	0.62120	AAG		0.343	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		5	79	0	0	0	1	0	5	79					G	76147908	A	G	76147908	3	3	472	1	0	0	0	0	1	0	0	0	16727	363	13	4	212	4	TTLL5	14	76147908	Missense_Mutation	SNP	A	TCGA-YL-A9WL-01A-11D-A41K-08		76147908	31201632	24	31817											
ATXN2L	11273	broad.mit.edu	37	chr16	28847368	28847368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggggcccccccaaggcGcggtgccccagagtggggtg	5	4	19	13	2	0	1	0	0	0	1	0	1	0	1	5	7	1	0	5	7	1	0			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr16:28847368G>A	ENST00000336783.4	+	22	3177	c.3010G>A	c.(3010-3012)Gcg>Acg	p.A1004T	ATXN2L_ENST00000570200.1_Missense_Mutation_p.A1004T|ATXN2L_ENST00000325215.6_Missense_Mutation_p.A1004T|ATXN2L_ENST00000382686.4_Missense_Mutation_p.A1004T|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.A1004T|ATXN2L_ENST00000340394.8_Missense_Mutation_p.A1004T|ATXN2L_ENST00000564304.1_Missense_Mutation_p.A1010T	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1004					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCCCAAGGCGCGGTGCCCCA	0.706																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(3010-3012)Gcg>Acg		ataxin 2-like							32	42	39					16																	28847368		2181	4277	6458	SO:0001583	missense	11273					membrane		g.chr16:28847368G>A		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.3010G>A	16.37:g.28847368G>A	ENSP00000338718:p.Ala1004Thr					RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Missense_Mutation_p.A1004T|ATXN2L_ENST00000564304.1_Missense_Mutation_p.A1010T|ATXN2L_ENST00000570200.1_Missense_Mutation_p.A1004T|ATXN2L_ENST00000395547.2_Missense_Mutation_p.A1004T|ATXN2L_ENST00000340394.8_Missense_Mutation_p.A1004T|ATXN2L_ENST00000325215.6_Missense_Mutation_p.A1004T	p.A1004T	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			22	3177	+			1004					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.3010G>A	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	14.58	2.577301	0.45902	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.53423	0.66;0.62;0.63;0.65;0.65	5.95	3.95	0.45737	.	0.362810	0.25845	N	0.027937	T	0.32615	0.0835	N	0.24115	0.695	0.39667	D	0.970698	B;B;B;B;B;B	0.10296	0.002;0.002;0.003;0.003;0.002;0.003	B;B;B;B;B;B	0.06405	0.001;0.001;0.002;0.002;0.001;0.002	T	0.10245	-1.0638	10	0.44086	T	0.13	-3.8906	10.243	0.43324	0.0713:0.0:0.7926:0.1361	.	1004;1004;1004;1004;1004;1004	Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;ATX2L_HUMAN;.;.;.;.	T	1004	ENSP00000341459:A1004T;ENSP00000378917:A1004T;ENSP00000338718:A1004T;ENSP00000372133:A1004T;ENSP00000315650:A1004T	ENSP00000315650:A1004T	A	+	1	0	ATXN2L	28754869	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.281000	0.65609	0.820000	0.34516	0.563000	0.77884	GCG		0.706	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		27	27	0	0	0	1	0	27	27					A	28847368	G	A	28847368	3	1	472	1	0	0	0	0	1	0	0	0	1212	1087	38	1	3096	1	ATXN2L	16	28847368	Missense_Mutation	SNP	G	TCGA-YL-A9WL-01A-11D-A41K-08		28847368	61507385	25	31818											
PRPF8	10594	broad.mit.edu	37	chr17	1577185	1577216	+	Splice_Site	DEL	ACCTACACCAGACCAGGTACACTGCTGAGGCC	ACCTACACCAGACCAGGTACACTGCTGAGGCC	-																															ccgagcctcatctgctgtgaAcctacaccagaccaggtaca																								rs370736475		TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr17:1577185_1577216delACCTACACCAGACCAGGTACACTGCTGAGGCC	ENST00000572621.1	-	21	3565_3566	c.3300_3301delGGCCTCAGCAGTGTACCTGGTCTGGTGTAGGT	c.(3298-3303)agggcc>agcc	p.RA1100fs	PRPF8_ENST00000304992.6_Splice_Site_p.RA1100fs			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1100	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			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)		TCTGCTGTGAACCTACACCAGACCAGGTACACTGCTGAGGCCCCAGTACACT	0.53																																						ENST00000572621.1																			0				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						c.e21-1		pre-mRNA processing factor 8																																				SO:0001630	splice_region_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1577185_1577216delACCTACACCAGACCAGGTACACTGCTGAGGCC	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3300-1GGCCTCAGCAGTGTACCTGGTCTGGTGTAGGT>-	17.37:g.1577185_1577216delACCTACACCAGACCAGGTACACTGCTGAGGCC						PRPF8_ENST00000304992.6_Splice_Site_p.S1100_splice	p.S1100_splice			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	21	3565_3566	-			1100					O14547|O75965	Splice_Site	DEL	ENST00000572621.1	37	c.3299_splice	CCDS11010.1																																																																																				0.53	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2		Frame_Shift_Del	8	56						8	56	---	---	---	---	-	1577216	ACCTACACCAGACCAGGTACACTGCTGAGGCC	-	1577185	8	5	472	1	0	1	0	1	0	0	1	0	12575	57	2	0	3794	0	PRPF8	17	1577185	Splice_Site	DEL	ACCTACACCAGACCAGGTACACTGCTGAGGCC	TCGA-YL-A9WL-01A-11D-A41K-08		1577185	79618025	26	31819											
KRT33B	3884	broad.mit.edu	37	chr17	39521167	39521167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgccagctgggactccaCgttggtgatcaggctctgca	6	9	12	14	2	2	1	1	1	1	0	4	2	4	2	3	3	2	4	3	3	0	1			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr17:39521167C>T	ENST00000251646.3	-	6	1010	c.961G>A	c.(961-963)Gtg>Atg	p.V321M		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	321	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGGGACTCCACGTTGGTGATC	0.612																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(961-963)Gtg>Atg		keratin 33B							50	56	54					17																	39521167		2189	4296	6485	SO:0001583	missense	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521167C>T	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.961G>A	17.37:g.39521167C>T	ENSP00000251646:p.Val321Met						p.V321M	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			6	1010	-		Breast(137;0.000496)	321			Coil 2.|Rod.		O76010	Missense_Mutation	SNP	ENST00000251646.3	37	c.961G>A	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	c	13.34	2.207599	0.39003	.	.	ENSG00000131738	ENST00000251646	D	0.89415	-2.51	4.85	4.85	0.62838	Filament (1);	0.000000	0.56097	D	0.000021	D	0.91109	0.7201	M	0.73598	2.24	0.30874	N	0.732162	D	0.61080	0.989	P	0.56751	0.805	D	0.89687	0.3895	10	0.72032	D	0.01	.	6.9464	0.24520	0.0:0.8142:0.0:0.1858	.	321	Q14525	KT33B_HUMAN	M	321	ENSP00000251646:V321M	ENSP00000251646:V321M	V	-	1	0	KRT33B	36774693	0.050000	0.20438	1.000000	0.80357	0.604000	0.37047	0.290000	0.18975	2.666000	0.90696	0.650000	0.86243	GTG		0.612	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		5	46	0	0	0	1	0	5	46					T	39521167	C	T	39521167	3	4	472	1	0	0	0	0	1	0	0	0	8470	536	19	1	261	1	KRT33B	17	39521167	Missense_Mutation	SNP	C	TCGA-YL-A9WL-01A-11D-A41K-08	37943982	39521167	41674043	27	31820											
ACOX1	51	broad.mit.edu	37	chr17	73953635	73953635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctgtggtttccaagcctCgaaggtgagttcctaaggag	8	11	14	8	1	0	1	0	1	0	0	3	3	2	2	3	4	1	3	3	4	3	3			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr17:73953635C>T	ENST00000301608.4	-	4	503	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	ACOX1_ENST00000293217.5_Missense_Mutation_p.R148Q|ACOX1_ENST00000591857.1_5'UTR|ACOX1_ENST00000537812.1_Missense_Mutation_p.R110Q	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	148					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	TTCCAAGCCTCGAAGGTGAGT	0.448																																						ENST00000537812.1																			0				large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						c.(328-330)cGa>cAa		acyl-CoA oxidase 1, palmitoyl							101	92	95					17																	73953635		2203	4300	6503	SO:0001583	missense	51				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	g.chr17:73953635C>T	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.443G>A	17.37:g.73953635C>T	ENSP00000301608:p.Arg148Gln					ACOX1_ENST00000591857.1_5'UTR|ACOX1_ENST00000301608.4_Missense_Mutation_p.R148Q|ACOX1_ENST00000293217.5_Missense_Mutation_p.R148Q	p.R110Q	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN			4	977	-			148					A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	c.329G>A	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604206	0.87157	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	D;D;D	0.95001	-3.58;-3.58;-3.58	5.65	5.65	0.86999	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.060930	0.64402	D	0.000003	D	0.96580	0.8884	M	0.64404	1.975	0.80722	D	1	D;D;P;P	0.89917	1.0;1.0;0.567;0.502	D;D;B;B	0.78314	0.991;0.991;0.247;0.075	D	0.94866	0.8026	10	0.25106	T	0.35	-9.3905	19.721	0.96143	0.0:1.0:0.0:0.0	.	80;110;148;148	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	Q	148;148;110;148;80	ENSP00000301608:R148Q;ENSP00000293217:R148Q;ENSP00000441257:R110Q	ENSP00000293217:R148Q	R	-	2	0	ACOX1	71465230	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.480000	0.81109	2.662000	0.90505	0.643000	0.83706	CGA		0.448	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			21	22	0	0	0	1	0	21	22					T	73953635	C	T	73953635	3	4	472	1	0	0	0	0	1	0	0	0	158	884	31	2	1583	2	ACOX1	17	73953635	Missense_Mutation	SNP	C	TCGA-YL-A9WL-01A-11D-A41K-08	34432468	73953635	7241575	28	31821											
TMEM200C	645369	broad.mit.edu	37	chr18	5891854	5891854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccagtagcccaccaccGccatggctatgcccaccagc	8	5	10	18	1	0	0	0	0	0	0	0	0	0	0	7	2	3	2	7	2	2	2			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr18:5891854G>A	ENST00000581347.2	-	3	854	c.209C>T	c.(208-210)gCg>gTg	p.A70V	RP11-945C19.4_ENST00000582939.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.A70V|RP11-945C19.4_ENST00000577694.1_RNA|RP11-945C19.4_ENST00000580845.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	70						integral component of membrane (GO:0016021)		p.A70V(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GCCCACCACCGCCATGGCTAT	0.662																																						ENST00000581347.1																			1	Substitution - Missense(1)	p.A70V(1)	lung(1)	autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						c.(208-210)gCg>gTg		transmembrane protein 200C							54	60	58					18																	5891854		2147	4256	6403	SO:0001583	missense	645369					integral to membrane		g.chr18:5891854G>A		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.209C>T	18.37:g.5891854G>A	ENSP00000463375:p.Ala70Val					RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.A70V	p.A70V			A6NKL6	T200C_HUMAN			3	854	-			70						Missense_Mutation	SNP	ENST00000581347.2	37	c.209C>T	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513929	0.85389	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.97	4.09	0.47781	.	0.056303	0.64402	D	0.000001	T	0.78394	0.4276	M	0.75615	2.305	0.53688	D	0.999971	D	0.89917	1.0	D	0.80764	0.994	T	0.81908	-0.0717	9	0.87932	D	0	-15.2681	15.6135	0.76748	0.0:0.1382:0.8618:0.0	.	70	A6NKL6	T200C_HUMAN	V	70	.	ENSP00000372982:A70V	A	-	2	0	TMEM200C	5881854	1.000000	0.71417	0.950000	0.38849	0.904000	0.53231	9.428000	0.97476	1.204000	0.43247	-0.310000	0.09108	GCG		0.662	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		18	25	0	0	0	1	0	18	25					A	5891854	G	A	5891854	3	1	472	1	0	0	0	0	1	0	0	0	16122	1087	38	1	1660	1	TMEM200C	18	5891854	Missense_Mutation	SNP	G	TCGA-YL-A9WL-01A-11D-A41K-08		5891854	72185394	29	31822											
ANKRD30B	374860	broad.mit.edu	37	chr18	14850219	14850219	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtttaatggcagattgacTttaaatcaagaagaagagaa	18	11	9	3	0	1	5	1	1	0	4	1	6	1	5	0	1	0	2	0	1	7	5			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr18:14850219T>A	ENST00000358984.4	+	35	3225	c.3045T>A	c.(3043-3045)acT>acA	p.T1015T		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1015				T -> P (in Ref. 3; AAK27326). {ECO:0000305}.						breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GCAGATTGACTTTAAATCAAG	0.284																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(3043-3045)acT>acA		ankyrin repeat domain 30B							21	18	19					18																	14850219		691	1570	2261	SO:0001819	synonymous_variant	374860							g.chr18:14850219T>A	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3045T>A	18.37:g.14850219T>A							p.T1015T	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			35	3225	+			1100					B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	c.3045T>A	CCDS54182.1																																																																																				0.284	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		11	5	0	0	0	1	0	11	5					A	14850219	T	A	14850219	2	1	472	1	0	0	0	0	0	0	0	1	659	1596	56	5		5	ANKRD30B	18	14850219	Silent	SNP	T	TCGA-YL-A9WL-01A-11D-A41K-08	8958365	14850219	63227029	30	31823											
CHST8	64377	broad.mit.edu	37	chr19	34263027	34263027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcggctccgccagcgccgtCgccgtctgctcatcaagaaa	7	7	11	16	6	3	1	2	0	1	1	5	1	4	1	4	1	3	2	4	1	2	0			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr19:34263027C>T	ENST00000262622.4	+	4	1092	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	CHST8_ENST00000434302.1_Missense_Mutation_p.R112C|CHST8_ENST00000438847.3_Missense_Mutation_p.R112C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	112					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCAGCGCCGTCGCCGTCTGCT	0.711																																						ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(334-336)Cgc>Tgc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							11	15	14					19																	34263027		2193	4269	6462	SO:0001583	missense	64377				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	g.chr19:34263027C>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.334C>T	19.37:g.34263027C>T	ENSP00000262622:p.Arg112Cys					CHST8_ENST00000438847.2_Missense_Mutation_p.R112C|CHST8_ENST00000434302.1_Missense_Mutation_p.R112C	p.R112C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			4	1092	+	Esophageal squamous(110;0.162)		112					Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.334C>T	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707506	0.68615	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.77620	-1.11;-1.11;-1.11	5.08	4.01	0.46588	.	0.000000	0.38381	N	0.001705	T	0.78310	0.4263	L	0.29908	0.895	0.47308	D	0.999388	D	0.89917	1.0	D	0.65987	0.94	T	0.78999	-0.1982	10	0.62326	D	0.03	-15.8441	9.5427	0.39262	0.3243:0.6757:0.0:0.0	.	112	Q9H2A9	CHST8_HUMAN	C	112	ENSP00000392604:R112C;ENSP00000393879:R112C;ENSP00000262622:R112C	ENSP00000262622:R112C	R	+	1	0	CHST8	38954867	0.003000	0.15002	0.999000	0.59377	0.905000	0.53344	0.041000	0.13927	2.343000	0.79666	0.478000	0.44815	CGC		0.711	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		5	19	0	0	0	1	0	5	19					T	34263027	C	T	34263027	3	4	472	1	0	0	0	0	1	0	0	0	3410	884	31	2	344	2	CHST8	19	34263027	Missense_Mutation	SNP	C	TCGA-YL-A9WL-01A-11D-A41K-08		34263027	24865956	31	31824											
UBA2	10054	broad.mit.edu	37	chr19	34935916	34935916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttttataggggaaccaacgGaagccgaagccagagctaga	14	6	13	8	2	0	2	0	0	0	2	0	5	0	4	3	3	5	2	3	3	7	4			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr19:34935916G>A	ENST00000246548.4	+	8	731	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	UBA2_ENST00000439527.2_Missense_Mutation_p.E125K	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	221					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			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)			GGAACCAACGGAAGCCGAAGC	0.363																																						ENST00000439527.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(373-375)Gaa>Aaa		ubiquitin-like modifier activating enzyme 2							90	89	90					19																	34935916		2203	4300	6503	SO:0001583	missense	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34935916G>A	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.661G>A	19.37:g.34935916G>A	ENSP00000246548:p.Glu221Lys					UBA2_ENST00000246548.4_Missense_Mutation_p.E221K	p.E125K			Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		8	871	+	Esophageal squamous(110;0.162)		221					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	c.373G>A	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116122	0.56505	.	.	ENSG00000126261	ENST00000542624;ENST00000246548;ENST00000439527	T;T	0.60040	0.22;1.38	5.5	5.5	0.81552	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.143871	0.64402	D	0.000007	T	0.45377	0.1339	L	0.33245	0.995	0.58432	D	0.999991	B	0.09022	0.002	B	0.08055	0.003	T	0.30119	-0.9989	10	0.17369	T	0.5	-18.9536	14.1796	0.65564	0.0:0.1501:0.8499:0.0	.	221	Q9UBT2	SAE2_HUMAN	K	94;221;125	ENSP00000246548:E221K;ENSP00000437484:E125K	ENSP00000246548:E221K	E	+	1	0	UBA2	39627756	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.564000	0.67359	2.736000	0.93811	0.591000	0.81541	GAA		0.363	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		16	61	0	0	0	1	0	16	61					A	34935916	G	A	34935916	3	1	472	1	0	0	0	0	1	0	0	0	16825	1175	41	3	691	3	UBA2	19	34935916	Missense_Mutation	SNP	G	TCGA-YL-A9WL-01A-11D-A41K-08	672889	34935916	24193067	32	31825											
LGI4	163175	broad.mit.edu	37	chr19	35616120	35616120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcactgaggtcgatctcgtGatgctggtagatctgtgtgg	6	12	16	7	2	2	3	0	2	2	1	4	4	2	3	0	4	1	3	0	4	1	1			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr19:35616120G>C	ENST00000310123.3	-	9	2110	c.1591C>G	c.(1591-1593)Cac>Gac	p.H531D	LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	531					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	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)			TCGATCTCGTGATGCTGGTAG	0.642																																						ENST00000310123.3																			0				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1591-1593)Cac>Gac		leucine-rich repeat LGI family, member 4							55	54	55					19																	35616120		2203	4300	6503	SO:0001583	missense	163175					extracellular region		g.chr19:35616120G>C	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.1591C>G	19.37:g.35616120G>C	ENSP00000312273:p.His531Asp					LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR	p.H531D	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	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)		9	2110	-	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		531					B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	37	c.1591C>G	CCDS12444.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182353	0.57800	.	.	ENSG00000153902	ENST00000310123;ENST00000437421	T	0.63417	-0.04	5.15	5.15	0.70609	.	0.351548	0.26887	N	0.021997	T	0.49184	0.1542	L	0.36672	1.1	0.80722	D	1	B	0.33073	0.396	B	0.23574	0.047	T	0.55623	-0.8112	10	0.87932	D	0	.	11.9448	0.52922	0.0:0.1755:0.8245:0.0	.	531	Q8N135	LGI4_HUMAN	D	531;532	ENSP00000312273:H531D	ENSP00000312273:H531D	H	-	1	0	LGI4	40307960	0.994000	0.37717	0.981000	0.43875	0.725000	0.41563	2.661000	0.46758	2.404000	0.81709	0.484000	0.47621	CAC		0.642	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			5	39	0	0	0	1	0	5	39					C	35616120	G	C	35616120	3	2	472	1	0	0	0	0	1	0	0	0	8754	1290	45	5	26	5	LGI4	19	35616120	Missense_Mutation	SNP	G	TCGA-YL-A9WL-01A-11D-A41K-08	680204	35616120	23512863	33	31826											
TRIOBP	11078	broad.mit.edu	37	chr22	38120668	38120668	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagaacatcctgtgcccAacgggacgatcccagagcct	10	5	9	17	2	0	2	0	0	0	2	2	4	2	3	6	1	4	0	6	1	2	0	rs202079450	byFrequency	TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr22:38120668A>G	ENST00000406386.3	+	7	2360	c.2105A>G	c.(2104-2106)cAa>cGa	p.Q702R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	702					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			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)					TCCTGTGCCCAACGGGACGAT	0.582													G|||	10	0.00199681	0	0.0086	5008	,	,		20998	0		0.002	False		,,,				2504	0.002					ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2104-2106)cAa>cGa		TRIO and F-actin binding protein		G	ARG/GLN	8,3882		0,8,1937	168	182	178		2105	0	0	22		178	36,8268		0,36,4116	yes	missense	TRIOBP	NM_001039141.2	43	0,44,6053	GG,GA,AA		0.4335,0.2057,0.3608	benign	702/2366	38120668	44,12150	1945	4152	6097	SO:0001583	missense	11078				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	g.chr22:38120668A>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2105A>G	22.37:g.38120668A>G	ENSP00000384312:p.Gln702Arg					RP1-37E16.12_ENST00000455236.1_RNA	p.Q702R	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2360	+	Melanoma(58;0.0574)		702					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2105A>G	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730111	0.48939	0.002057	0.004335	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19806	2.12	5.08	0.0434	0.14221	.	.	.	.	.	T	0.15089	0.0364	L	0.38953	1.18	0.21802	N	0.99953	B	0.06786	0.001	B	0.08055	0.003	T	0.24190	-1.0167	9	0.45353	T	0.12	.	6.9354	0.24463	0.5128:0.3957:0.0915:0.0	.	702	Q9H2D6	TARA_HUMAN	R	702	ENSP00000384312:Q702R	ENSP00000384312:Q702R	Q	+	2	0	TRIOBP	36450614	0.004000	0.15560	0.011000	0.14972	0.002000	0.02628	0.083000	0.14871	-0.303000	0.08856	-1.451000	0.01035	CAA		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			3	42	0	0	0	1	0	3	42					G	38120668	A	G	38120668	3	3	472	1	0	0	0	0	1	0	0	0	16550	130	5	4	2123	4	TRIOBP	22	38120668	Missense_Mutation	SNP	A	TCGA-YL-A9WL-01A-11D-A41K-08		38120668	13183898	34	31827											
HDAC6	10013	broad.mit.edu	37	chrX	48673084	48673084	+	Frame_Shift_Del	DEL	G	G	-																															acactcctgtgtctgcaggtGgggatgcgggatgctgacta																										TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chrX:48673084delG	ENST00000334136.5	+	12	1114	c.936delG	c.(934-936)gtgfs	p.V312fs	HDAC6_ENST00000444343.2_Frame_Shift_Del_p.V326fs|HDAC6_ENST00000376619.2_Frame_Shift_Del_p.V312fs|HDAC6_ENST00000413163.2_Frame_Shift_Del_p.V257fs			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	312	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GTCTGCAGGTGGGGATGCGGG	0.642																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(934-936)gtfs		histone deacetylase 6	Vorinostat(DB02546)						64	55	58					X																	48673084		2203	4300	6503	SO:0001589	frameshift_variant	10013				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	g.chrX:48673084delG	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.936delG	X.37:g.48673084delG	ENSP00000334061:p.Val312fs					HDAC6_ENST00000413163.2_Frame_Shift_Del_p.V257fs|HDAC6_ENST00000376619.2_Frame_Shift_Del_p.V312fs|HDAC6_ENST00000444343.2_Frame_Shift_Del_p.V326fs	p.V312fs			Q9UBN7	HDAC6_HUMAN			12	1114	+			312			Histone deacetylase 1.		O94975|Q6NT75|Q7L3E5|Q96CY0	Frame_Shift_Del	DEL	ENST00000334136.5	37	c.936delG	CCDS14306.1																																																																																				0.642	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		2	4						2	4	---	---	---	---	-	48673084	G	-	48673084	7	5	472	1	0	1	0	1	0	0	0	0	7011	1335	47	0	978	0	HDAC6	23	48673084	Frame_Shift_Del	DEL	G	TCGA-YL-A9WL-01A-11D-A41K-08		48673084	106597476	35	31828											
GABRE	2564	broad.mit.edu	37	chrX	151131069	151131069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtcgttgtaacagaggCgttcgtcgtaccaggtctgg	7	11	15	8	4	1	1	0	0	1	1	4	1	1	1	1	4	2	4	1	4	2	4			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chrX:151131069C>T	ENST00000370328.3	-	4	442	c.389G>A	c.(388-390)cGc>cAc	p.R130H	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.R130H|MIR452_ENST00000385020.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	130					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTAACAGAGGCGTTCGTCGTA	0.468																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(388-390)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, epsilon							187	149	162					X																	151131069		2203	4300	6503	SO:0001583	missense	2564				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	g.chrX:151131069C>T	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.389G>A	X.37:g.151131069C>T	ENSP00000359353:p.Arg130His					GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.R130H	p.R130H			P78334	GBRE_HUMAN			4	442	-	Acute lymphoblastic leukemia(192;6.56e-05)		130					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.389G>A	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448832	0.84101	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.82081	-1.57;-1.57	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.52532	D	0.000076	D	0.86892	0.6042	M	0.93150	3.385	0.80722	D	1	P	0.38642	0.641	B	0.33521	0.165	D	0.89679	0.3889	10	0.87932	D	0	.	15.8742	0.79148	0.0:1.0:0.0:0.0	.	130	P78334	GBRE_HUMAN	H	130	ENSP00000359353:R130H;ENSP00000359350:R130H	ENSP00000359350:R130H	R	-	2	0	GABRE	150881725	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	6.087000	0.71362	2.348000	0.79779	0.600000	0.82982	CGC		0.468	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		34	6	0	0	0	1	0	34	6					T	151131069	C	T	151131069	3	4	472	1	0	0	0	0	1	0	0	0	6170	768	27	1	1155	1	GABRE	23	151131069	Missense_Mutation	SNP	C	TCGA-YL-A9WL-01A-11D-A41K-08	102457985	151131069	4139491	36	31829											
SF3A3	10946	broad.mit.edu	37	chr1	38444715	38444715	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcaatctgtccaaacccaGagaagccaactcctatacaa	15	9	4	13	0	2	1	1	0	1	1	4	2	4	1	4	0	4	0	4	0	7	3			TCGA-YL-A9WX-01A-21D-A41K-08	TCGA-YL-A9WX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f982b5-db69-440a-815e-c90a923179c8	4be95b75-954e-4f4a-840e-f9fc6762bfc8	g.chr1:38444715G>A	ENST00000373019.4	-	10	1727	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Silent_p.L205L	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	258					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCAAACCCAGAGAAGCCAAC	0.398																																						ENST00000373019.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12						c.(772-774)Ctg>Ttg		splicing factor 3a, subunit 3, 60kDa							62	65	64					1																	38444715		2203	4300	6503	SO:0001819	synonymous_variant	10946				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding	g.chr1:38444715G>A	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"splicing factor 3a, subunit 3, 60kD"			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.772C>T	1.37:g.38444715G>A						SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Silent_p.L205L	p.L258L	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN			10	1727	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	258					D3DPT5|Q15460|Q5VT87	Silent	SNP	ENST00000373019.4	37	c.772C>T	CCDS428.1																																																																																				0.398	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802		5	63	0	0	0	1	0	5	63					A	38444715	G	A	38444715	2	1	473	1	0	0	0	0	0	0	0	1	14148	933	33	3		3	SF3A3	1	38444715	Silent	SNP	G	TCGA-YL-A9WX-01A-21D-A41K-08		38444715	210805906	1	31830											
EFCAB7	84455	broad.mit.edu	37	chr1	63999252	63999252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtcccctgaaagggaccCatcaccagtaccaaaaccat	14	5	8	14	0	1	1	1	1	0	0	2	2	2	2	6	2	2	1	6	2	4	1			TCGA-YL-A9WX-01A-21D-A41K-08	TCGA-YL-A9WX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f982b5-db69-440a-815e-c90a923179c8	4be95b75-954e-4f4a-840e-f9fc6762bfc8	g.chr1:63999252C>T	ENST00000371088.4	+	5	860	c.614C>T	c.(613-615)cCa>cTa	p.P205L		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	205							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GAAAGGGACCCATCACCAGTA	0.378																																						ENST00000371088.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(613-615)cCa>cTa		EF-hand calcium binding domain 7							113	121	118					1																	63999252		2203	4299	6502	SO:0001583	missense	84455						calcium ion binding	g.chr1:63999252C>T	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"EF-hand domain containing"	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.614C>T	1.37:g.63999252C>T	ENSP00000360129:p.Pro205Leu						p.P205L	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			5	860	+			205					Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.614C>T	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	C	6.576	0.474584	0.12521	.	.	ENSG00000203965	ENST00000371088	T	0.56611	0.45	5.93	3.03	0.35002	.	0.739648	0.13775	N	0.363625	T	0.16471	0.0396	N	0.17474	0.49	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.14952	-1.0454	10	0.41790	T	0.15	-1.7308	8.2695	0.31836	0.0:0.6997:0.118:0.1823	.	205	A8K855	EFCB7_HUMAN	L	205	ENSP00000360129:P205L	ENSP00000360129:P205L	P	+	2	0	EFCAB7	63771840	0.000000	0.05858	1.000000	0.80357	0.873000	0.50193	0.284000	0.18864	1.510000	0.48803	0.655000	0.94253	CCA		0.378	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		5	118	0	0	0	1	0	5	118					T	63999252	C	T	63999252	3	4	473	1	0	0	0	0	1	0	0	0	4940	594	21	3	628	3	EFCAB7	1	63999252	Missense_Mutation	SNP	C	TCGA-YL-A9WX-01A-21D-A41K-08	25554537	63999252	185251369	2	31831											
ENC1	8507	broad.mit.edu	37	chr5	73932281	73932281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccgctgctggccctggaCttgcggttctcatgcacact	5	10	12	14	2	1	0	1	0	1	0	2	2	1	1	2	3	4	4	2	3	0	2			TCGA-YL-A9WX-01A-21D-A41K-08	TCGA-YL-A9WX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f982b5-db69-440a-815e-c90a923179c8	4be95b75-954e-4f4a-840e-f9fc6762bfc8	g.chr5:73932281C>T	ENST00000302351.4	-	2	1160	c.30G>A	c.(28-30)aaG>aaA	p.K10K	ENC1_ENST00000510316.1_Intron|ENC1_ENST00000537006.1_Silent_p.K10K	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	10					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGGCCCTGGACTTGCGGTTCT	0.443																																						ENST00000302351.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(28-30)aaG>aaA		ectodermal-neural cortex 1 (with BTB domain)							54	53	53					5																	73932281		2203	4300	6503	SO:0001819	synonymous_variant	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73932281C>T	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"Kelch-like", "BTB/POZ domain containing"	3345	protein-coding gene	gene with protein product	"kelch-like family member 37"	605173	"ectodermal-neural cortex 1 (with BTB-like domain)"	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.30G>A	5.37:g.73932281C>T						ENC1_ENST00000537006.1_Silent_p.K10K|ENC1_ENST00000510316.1_Intron	p.K10K	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	1160	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	10					B4DHJ1|E9PFU0|O75464|Q9UPG9	Silent	SNP	ENST00000302351.4	37	c.30G>A	CCDS4021.1																																																																																				0.443	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		5	38	0	0	0	1	0	5	38					T	73932281	C	T	73932281	2	4	473	1	0	0	0	0	0	0	0	1	5113	564	20	3		3	ENC1	5	73932281	Silent	SNP	C	TCGA-YL-A9WX-01A-21D-A41K-08		73932281	106982979	3	31832											
PCDHA3	56145	broad.mit.edu	37	chr5	140182441	140182441	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaacgtgacgctgcaggtGttcgtgctggacgagaacga	10	7	15	9	5	0	2	0	1	0	1	1	5	0	3	0	2	5	5	0	2	2	1			TCGA-YL-A9WX-01A-21D-A41K-08	TCGA-YL-A9WX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f982b5-db69-440a-815e-c90a923179c8	4be95b75-954e-4f4a-840e-f9fc6762bfc8	g.chr5:140182441G>A	ENST00000522353.2	+	1	1659	c.1659G>A	c.(1657-1659)gtG>gtA	p.V553V	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.V553V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	553	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGGTGTTCGTGCTGG	0.682																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1657-1659)gtG>gtA									94	94	94					5																	140182441		2203	4297	6500	SO:0001819	synonymous_variant	0							g.chr5:140182441G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1659G>A	5.37:g.140182441G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.V553V|PCDHA2_ENST00000520672.2_Intron	p.V553V	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1659	+								O75286	Silent	SNP	ENST00000522353.2	37	c.1659G>A	CCDS54915.1																																																																																				0.682	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		17	97	0	0	0	1	0	17	97					A	140182441	G	A	140182441	2	1	473	1	0	0	0	0	0	0	0	1	11525	1364	48	3		3	PCDHA3	5	140182441	Silent	SNP	G	TCGA-YL-A9WX-01A-21D-A41K-08	66250160	140182441	40732819	4	31833											
CBLL1	79872	broad.mit.edu	37	chr7	107394392	107394392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcatttctgtgacaagtGtggattgcctattaaaatct	11	16	8	6	0	3	1	1	1	2	0	3	2	3	2	1	1	1	1	1	1	4	5			TCGA-YL-A9WX-01A-21D-A41K-08	TCGA-YL-A9WX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f982b5-db69-440a-815e-c90a923179c8	4be95b75-954e-4f4a-840e-f9fc6762bfc8	g.chr7:107394392G>A	ENST00000440859.3	+	4	802	c.335G>A	c.(334-336)tGt>tAt	p.C112Y	CBLL1_ENST00000222597.2_Missense_Mutation_p.C111Y|CBLL1_ENST00000415884.2_Missense_Mutation_p.C112Y	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	112					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TGTGACAAGTGTGGATTGCCT	0.299																																						ENST00000440859.2																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(334-336)tGt>tAt		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							85	92	89					7																	107394392		2203	4293	6496	SO:0001583	missense	79872				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	g.chr7:107394392G>A	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"RING-type (C3HC4) zinc fingers"	21225	protein-coding gene	gene with protein product	"Casitas B-lineage lymphoma-like"	606872	"Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.335G>A	7.37:g.107394392G>A	ENSP00000401277:p.Cys112Tyr					CBLL1_ENST00000222597.2_Missense_Mutation_p.C111Y|CBLL1_ENST00000415884.2_Missense_Mutation_p.C112Y	p.C112Y	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN			4	802	+			112					B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	c.335G>A	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300502	0.81136	.	.	ENSG00000105879	ENST00000440859;ENST00000222597;ENST00000420796;ENST00000415884;ENST00000417616	D;T;D	0.82619	-1.51;-1.47;-1.63	5.35	4.47	0.54385	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.89598	0.6761	M	0.69248	2.105	0.80722	D	1	D;B	0.76494	0.999;0.093	D;B	0.83275	0.996;0.026	D	0.90647	0.4579	10	0.87932	D	0	-1.8663	14.1	0.65049	0.0725:0.0:0.9274:0.0	.	111;112	B7ZM03;Q75N03	.;HAKAI_HUMAN	Y	112;111;62;62;58	ENSP00000401277:C112Y;ENSP00000222597:C111Y;ENSP00000410615:C62Y	ENSP00000222597:C111Y	C	+	2	0	CBLL1	107181628	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.661000	0.98601	1.394000	0.46624	0.655000	0.94253	TGT		0.299	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		5	68	0	0	0	1	0	5	68					A	107394392	G	A	107394392	3	1	473	1	0	0	0	0	1	0	0	0	2703	1377	48	3	349	3	CBLL1	7	107394392	Missense_Mutation	SNP	G	TCGA-YL-A9WX-01A-21D-A41K-08		107394392	51744271	5	31834											
FOXP2	93986	broad.mit.edu	37	chr7	114269985	114269985	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcaacaacaacaacaAcagcagcaacaacagcagca	21	0	6	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	6	0	0	7	0	rs368614280		TCGA-YL-A9WX-01A-21D-A41K-08	TCGA-YL-A9WX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f982b5-db69-440a-815e-c90a923179c8	4be95b75-954e-4f4a-840e-f9fc6762bfc8	g.chr7:114269985A>G	ENST00000393494.2	+	5	801	c.522A>G	c.(520-522)caA>caG	p.Q174Q	FOXP2_ENST00000360232.4_Silent_p.Q174Q|FOXP2_ENST00000350908.4_Silent_p.Q174Q|FOXP2_ENST00000393489.3_Silent_p.Q82Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q174Q|FOXP2_ENST00000408937.3_Silent_p.Q199Q|FOXP2_ENST00000403559.4_Silent_p.Q191Q|FOXP2_ENST00000393491.3_Silent_p.Q82Q|FOXP2_ENST00000393498.2_Silent_p.Q154Q|FOXP2_ENST00000393500.3_Silent_p.Q99Q|FOXP2_ENST00000390668.3_Silent_p.Q198Q			O15409	FOXP2_HUMAN	forkhead box P2	174	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q199Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						aacaacaacaacagcagcaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q199Q(1)	endometrium(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(295-297)caA>caG		forkhead box P2		G	,,,,,	0,4398		0,0,2199	39	36	37		522,597,522,597,522,573	-1.2	1	7		37	1,8583		0,1,4291	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FOXP2	NM_001172766.2,NM_001172767.2,NM_014491.3,NM_148898.3,NM_148899.3,NM_148900.3	,,,,,	0,1,6490	GG,GA,AA		0.0116,0.0,0.0077	,,,,,	174/715,199/458,174/716,199/741,174/433,191/733	114269985	1,12981	2199	4292	6491	SO:0001819	synonymous_variant	93986				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	g.chr7:114269985A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.522A>G	7.37:g.114269985A>G						FOXP2_ENST00000393498.2_Silent_p.Q154Q|FOXP2_ENST00000393494.2_Silent_p.Q174Q|FOXP2_ENST00000408937.3_Silent_p.Q199Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q82Q|FOXP2_ENST00000350908.4_Silent_p.Q174Q|FOXP2_ENST00000393491.3_Silent_p.Q82Q|FOXP2_ENST00000360232.4_Silent_p.Q174Q|FOXP2_ENST00000378237.3_Silent_p.Q174Q|FOXP2_ENST00000403559.4_Silent_p.Q191Q|FOXP2_ENST00000390668.3_Silent_p.Q198Q	p.Q99Q			O15409	FOXP2_HUMAN			11	1117	+			174			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.297A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	38	0	0	0	1	0	3	38					G	114269985	A	G	114269985	2	3	473	1	0	0	0	0	0	0	0	1	6027	40	2	4		4	FOXP2	7	114269985	Silent	SNP	A	TCGA-YL-A9WX-01A-21D-A41K-08	6875593	114269985	44868678	6	31835											
C5	727	broad.mit.edu	37	chr9	123725995	123725995	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagaggatccagatgatgaTtcttccctgctgggcttgta	8	13	12	8	0	1	4	0	3	1	2	3	6	3	5	2	2	1	3	2	2	1	4			TCGA-YL-A9WX-01A-21D-A41K-08	TCGA-YL-A9WX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f982b5-db69-440a-815e-c90a923179c8	4be95b75-954e-4f4a-840e-f9fc6762bfc8	g.chr9:123725995T>C	ENST00000223642.1	-	34	4271	c.4242A>G	c.(4240-4242)gaA>gaG	p.E1414E		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1414					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CAGATGATGATTCTTCCCTGC	0.363																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(4240-4242)gaA>gaG		complement component 5	Eculizumab(DB01257)						72	70	71					9																	123725995		2203	4300	6503	SO:0001819	synonymous_variant	727				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	g.chr9:123725995T>C	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4242A>G	9.37:g.123725995T>C							p.E1414E	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	34	4271	-			1414					Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	c.4242A>G	CCDS6826.1																																																																																				0.363	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		11	95	0	0	0	1	0	11	95					C	123725995	T	C	123725995	2	2	473	1	0	0	0	0	0	0	0	1	2280	1490	52	4		4	C5	9	123725995	Silent	SNP	T	TCGA-YL-A9WX-01A-21D-A41K-08		123725995	17487436	7	31836											
ITIH2	3698	broad.mit.edu	37	chr10	7780627	7780627	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggttccagattccaccccGtcttgggccaatccttcacc	6	11	8	16	1	2	1	1	0	1	1	5	1	5	1	7	2	0	1	7	2	1	4	rs568011933		TCGA-YL-A9WX-01A-21D-A41K-08	TCGA-YL-A9WX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f982b5-db69-440a-815e-c90a923179c8	4be95b75-954e-4f4a-840e-f9fc6762bfc8	g.chr10:7780627G>A	ENST00000358415.4	+	16	2167	c.2001G>A	c.(1999-2001)ccG>ccA	p.P667P	ITIH2_ENST00000379587.4_Silent_p.P656P	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	667	O-glycosylated at three sites.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATTCCACCCCGTCTTGGGCCA	0.532													G|||	1	0.000199681	0	0	5008	,	,		15324	0.001		0	False		,,,				2504	0					ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1999-2001)ccG>ccA		inter-alpha-trypsin inhibitor heavy chain 2							127	110	115					10																	7780627		2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7780627G>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2001G>A	10.37:g.7780627G>A						ITIH2_ENST00000379587.4_Silent_p.P656P	p.P667P	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			16	2167	+			667					Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.2001G>A	CCDS31141.1																																																																																				0.532	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		8	58	0	0	0	1	0	8	58					A	7780627	G	A	7780627	2	1	473	1	0	0	0	0	0	0	0	1	7904	1132	40	1		1	ITIH2	10	7780627	Silent	SNP	G	TCGA-YL-A9WX-01A-21D-A41K-08		7780627	127754120	8	31837											
PARD3	56288	broad.mit.edu	37	chr10	34606223	34606223	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcactggctgtggatacAgactctctccctgatcttga	8	13	9	11	0	3	4	1	3	2	1	5	5	4	5	1	2	1	1	1	2	1	2			TCGA-YL-A9WX-01A-21D-A41K-08	TCGA-YL-A9WX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f982b5-db69-440a-815e-c90a923179c8	4be95b75-954e-4f4a-840e-f9fc6762bfc8	g.chr10:34606223A>T	ENST00000374789.3	-	20	3211	c.2886T>A	c.(2884-2886)tcT>tcA	p.S962S	PARD3_ENST00000340077.5_Silent_p.S959S|PARD3_ENST00000544292.1_Silent_p.S675S|PARD3_ENST00000545260.1_Silent_p.S872S|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374794.3_Silent_p.S887S|PARD3_ENST00000374790.3_Silent_p.S902S|PARD3_ENST00000350537.4_Silent_p.S916S|PARD3_ENST00000545693.1_Silent_p.S946S|PARD3_ENST00000374773.1_Silent_p.S929S|PARD3_ENST00000346874.4_Silent_p.S962S|PARD3_ENST00000374776.1_Silent_p.S916S|PARD3_ENST00000374788.3_Silent_p.S959S	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	962					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTGTGGATACAGACTCTCTCC	0.398																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(2884-2886)tcT>tcA		par-3 family cell polarity regulator							108	106	107					10																	34606223		2203	4300	6503	SO:0001819	synonymous_variant	56288				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	g.chr10:34606223A>T	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2886T>A	10.37:g.34606223A>T						PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000340077.5_Silent_p.S959S|PARD3_ENST00000374790.3_Silent_p.S902S|PARD3_ENST00000346874.4_Silent_p.S962S|PARD3_ENST00000545260.1_Silent_p.S872S|PARD3_ENST00000374776.1_Silent_p.S916S|PARD3_ENST00000374788.3_Silent_p.S959S|PARD3_ENST00000374773.1_Silent_p.S929S|PARD3_ENST00000544292.1_Silent_p.S675S|PARD3_ENST00000350537.4_Silent_p.S916S|PARD3_ENST00000545693.1_Silent_p.S946S|PARD3_ENST00000374794.3_Silent_p.S887S	p.S962S	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			20	3211	-		Breast(68;0.0707)	962					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	ENST00000374789.3	37	c.2886T>A	CCDS7178.1																																																																																				0.398	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		4	40	0	0	0	1	0	4	40					T	34606223	A	T	34606223	2	4	473	1	0	0	0	0	0	0	0	1	11443	175	7	5		5	PARD3	10	34606223	Silent	SNP	A	TCGA-YL-A9WX-01A-21D-A41K-08	26825596	34606223	100928524	9	31838											
CUL2	8453	broad.mit.edu	37	chr10	35322104	35322104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaacttaccttatccaacGcactcataaaatgctgatca	16	11	3	11	1	2	1	2	1	0	0	3	1	3	1	2	0	4	2	2	0	7	4			TCGA-YL-A9WX-01A-21D-A41K-08	TCGA-YL-A9WX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f982b5-db69-440a-815e-c90a923179c8	4be95b75-954e-4f4a-840e-f9fc6762bfc8	g.chr10:35322104G>A	ENST00000374748.1	-	12	1413	c.1100C>T	c.(1099-1101)gCg>gTg	p.A367V	CUL2_ENST00000374751.3_Missense_Mutation_p.A367V|CUL2_ENST00000374746.1_Missense_Mutation_p.A367V|CUL2_ENST00000374742.1_Missense_Mutation_p.A367V|CUL2_ENST00000602371.1_Missense_Mutation_p.A310V|CUL2_ENST00000374749.3_Missense_Mutation_p.A367V|CUL2_ENST00000537177.1_Missense_Mutation_p.A386V			Q13617	CUL2_HUMAN	cullin 2	367					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CTTATCCAACGCACTCATAAA	0.323																																						ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(1099-1101)gCg>gTg		cullin 2							90	85	87					10																	35322104		2203	4298	6501	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35322104G>A	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.1100C>T	10.37:g.35322104G>A	ENSP00000363880:p.Ala367Val					CUL2_ENST00000537177.1_Missense_Mutation_p.A386V|CUL2_ENST00000374746.1_Missense_Mutation_p.A367V|CUL2_ENST00000374742.1_Missense_Mutation_p.A367V|CUL2_ENST00000602371.1_Missense_Mutation_p.A310V|CUL2_ENST00000374751.3_Missense_Mutation_p.A367V|CUL2_ENST00000374749.3_Missense_Mutation_p.A367V	p.A367V			Q13617	CUL2_HUMAN			12	1413	-			367					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.1100C>T	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222665	0.95139	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.97	5.97	0.96955	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61739	0.2371	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.996	D;P;P	0.74023	0.982;0.837;0.899	T	0.61362	-0.7078	10	0.87932	D	0	-22.7223	20.4324	0.99085	0.0:0.0:1.0:0.0	.	367;386;367	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	V	367;367;367;367;310;367;386	ENSP00000363883:A367V;ENSP00000363880:A367V;ENSP00000363878:A367V;ENSP00000363881:A367V;ENSP00000363874:A367V;ENSP00000444856:A386V	ENSP00000363874:A367V	A	-	2	0	CUL2	35362110	1.000000	0.71417	0.993000	0.49108	0.892000	0.51952	9.852000	0.99516	2.833000	0.97629	0.585000	0.79938	GCG		0.323	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		4	52	0	0	0	1	0	4	52					A	35322104	G	A	35322104	3	1	473	1	0	0	0	0	1	0	0	0	4055	1087	38	1	1181	1	CUL2	10	35322104	Missense_Mutation	SNP	G	TCGA-YL-A9WX-01A-21D-A41K-08	715881	35322104	100212643	10	31839											
C11orf41	25758	broad.mit.edu	37	chr11	33581458	33581458	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctaaccattgctgaacGtgagtatggccatgcctatg	9	10	11	11	2	0	2	0	2	0	0	0	2	0	2	4	1	4	3	4	1	4	4			TCGA-YL-A9WX-01A-21D-A41K-08	TCGA-YL-A9WX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f982b5-db69-440a-815e-c90a923179c8	4be95b75-954e-4f4a-840e-f9fc6762bfc8	g.chr11:33581458G>A	ENST00000321505.4	+	6	3307		c.e6+1		KIAA1549L_ENST00000265654.5_Splice_Site|KIAA1549L_ENST00000389726.3_Splice_Site			Q6ZVL6	K154L_HUMAN	KIAA1549-like							integral component of membrane (GO:0016021)											ATTGCTGAACGTGAGTATGGC	0.547																																						ENST00000321505.4																			0											c.e6+1		KIAA1549-like							144	143	144					11																	33581458		2040	4188	6228	SO:0001630	splice_region_variant	25758							g.chr11:33581458G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3127+1G>A	11.37:g.33581458G>A						KIAA1549L_ENST00000389726.3_Splice_Site|KIAA1549L_ENST00000265654.5_Splice_Site								6	3307	+								B0QYU0	Splice_Site	SNP	ENST00000321505.4	37		CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892058	0.72524	.	.	ENSG00000110427	ENST00000526400;ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6375	0.95740	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C11orf41	33538034	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	9.400000	0.97290	2.715000	0.92844	0.573000	0.79308	.		0.547	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	Intron	21	162	0	0	0	1	0	21	162					A	33581458	G	A	33581458	5	1	473	1	0	0	0	0	0	0	1	0	1640	1159	40	1	3168	1	C11orf41	11	33581458	Splice_Site	SNP	G	TCGA-YL-A9WX-01A-21D-A41K-08		33581458	101425058	11	31840											
KRT78	196374	broad.mit.edu	37	chr12	53242522	53242522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accactccactccccaaaccGcacccccagcctaccccctg	9	4	3	25	1	0	0	0	0	0	0	2	0	2	0	10	0	3	1	10	0	2	1	rs367893585		TCGA-YL-A9WX-01A-21D-A41K-08	TCGA-YL-A9WX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f982b5-db69-440a-815e-c90a923179c8	4be95b75-954e-4f4a-840e-f9fc6762bfc8	g.chr12:53242522G>A	ENST00000304620.4	-	1	256	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	65	Gly-rich.|Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TCCCCAAACCGCACCCCCAGC	0.637																																						ENST00000304620.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(193-195)Cgg>Tgg		keratin 78		G	TRP/ARG	0,4406		0,0,2203	32	30	31		193	-8	0	12		31	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT78	NM_173352.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	65/521	53242522	1,13005	2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53242522G>A	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.193C>T	12.37:g.53242522G>A	ENSP00000306261:p.Arg65Trp						p.R65W	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN			1	256	-			65			Gly-rich.|Head.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.193C>T	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267505	0.40095	0.0	1.16E-4	ENSG00000170423	ENST00000304620	D	0.82255	-1.59	5.11	-7.99	0.01131	.	.	.	.	.	T	0.74627	0.3741	L	0.61218	1.895	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.58847	-0.7564	9	0.44086	T	0.13	.	7.3813	0.26858	0.5356:0.0:0.281:0.1834	.	65	Q8N1N4	K2C78_HUMAN	W	65	ENSP00000306261:R65W	ENSP00000306261:R65W	R	-	1	2	KRT78	51528789	0.000000	0.05858	0.000000	0.03702	0.232000	0.25224	-3.864000	0.00347	-1.553000	0.01702	-0.436000	0.05848	CGG		0.637	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		4	16	0	0	0	1	0	4	16					A	53242522	G	A	53242522	3	1	473	1	0	0	0	0	1	0	0	0	8491	1086	38	1	1405	1	KRT78	12	53242522	Missense_Mutation	SNP	G	TCGA-YL-A9WX-01A-21D-A41K-08		53242522	80609373	12	31841											
DCUN1D2	55208	broad.mit.edu	37	chr13	114128477	114128477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttcttagcgaaggtgaagGtaaactgataaaaatcttta	15	12	10	4	1	2	2	0	2	2	0	2	3	2	2	0	3	2	2	0	3	9	6			TCGA-YL-A9WX-01A-21D-A41K-08	TCGA-YL-A9WX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f982b5-db69-440a-815e-c90a923179c8	4be95b75-954e-4f4a-840e-f9fc6762bfc8	g.chr13:114128477G>A	ENST00000478244.1	-	4	764	c.482C>T	c.(481-483)aCc>aTc	p.T161I	DCUN1D2-AS_ENST00000414992.1_RNA|DCUN1D2_ENST00000332592.3_Missense_Mutation_p.T28I|DCUN1D2_ENST00000375399.2_Missense_Mutation_p.T161I|DCUN1D2-AS_ENST00000453584.1_RNA	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	161	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	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)			GAAGGTGAAGGTAAACTGATA	0.448																																						ENST00000332592.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7						c.(82-84)aCc>aTc		DCN1, defective in cullin neddylation 1, domain containing 2							167	160	162					13																	114128477		2203	4300	6503	SO:0001583	missense	55208							g.chr13:114128477G>A	AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 17", "DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.482C>T	13.37:g.114128477G>A	ENSP00000417706:p.Thr161Ile					DCUN1D2-AS_ENST00000414992.1_RNA|DCUN1D2_ENST00000478244.1_Missense_Mutation_p.T161I|DCUN1D2_ENST00000375399.2_Missense_Mutation_p.T161I	p.T28I			Q6PH85	DCNL2_HUMAN	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)		2	117	-	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)	161			UBA-like.		Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Missense_Mutation	SNP	ENST00000478244.1	37	c.83C>T	CCDS32013.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541713	0.85917	.	.	ENSG00000150401	ENST00000332592;ENST00000478244;ENST00000375399	T	0.44482	0.92	5.03	5.03	0.67393	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	M	0.79258	2.445	0.80722	D	1	D	0.63880	0.993	P	0.61800	0.894	T	0.69327	-0.5174	10	0.62326	D	0.03	.	18.3641	0.90385	0.0:0.0:1.0:0.0	.	161	Q6PH85	DCNL2_HUMAN	I	28;161;161	ENSP00000417706:T161I	ENSP00000330629:T28I	T	-	2	0	DCUN1D2	113176478	1.000000	0.71417	0.997000	0.53966	0.755000	0.42902	8.940000	0.92958	2.326000	0.78906	0.561000	0.74099	ACC		0.448	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045938.4	NM_018185		4	98	0	0	0	1	0	4	98					A	114128477	G	A	114128477	3	1	473	1	0	0	0	0	1	0	0	0	4314	1261	44	3	313	3	DCUN1D2	13	114128477	Missense_Mutation	SNP	G	TCGA-YL-A9WX-01A-21D-A41K-08		114128477	1041401	13	31842											
BCL2L10	10017	broad.mit.edu	37	chr15	52402108	52402108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagcatgacagaaaagcctgGaccagctgttttctccaaaa	15	8	8	10	0	1	2	0	1	1	1	2	3	1	3	3	1	3	3	3	1	5	2			TCGA-YL-A9WX-01A-21D-A41K-08	TCGA-YL-A9WX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f982b5-db69-440a-815e-c90a923179c8	4be95b75-954e-4f4a-840e-f9fc6762bfc8	g.chr15:52402108G>A	ENST00000561198.1	-	2	663	c.622C>T	c.(622-624)Cca>Tca	p.P208S	BCL2L10_ENST00000260442.3_Silent_p.V184V			Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female gamete generation (GO:0007292)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		GAAAAGCCTGGACCAGCTGTT	0.438																																						ENST00000561198.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.(622-624)Cca>Tca		BCL2-like 10 (apoptosis facilitator)							111	125	120					15																	52402108		2195	4293	6488	SO:0001583	missense	10017				activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding	g.chr15:52402108G>A	AF285092	CCDS10148.1	15q21	2007-03-02			ENSG00000137875	ENSG00000137875			993	protein-coding gene	gene with protein product		606910				9829980, 9878060	Standard	NM_020396		Approved	Diva, Boo, BCL-B	uc002abq.3	Q9HD36	OTTHUMG00000131893	ENST00000561198.1:c.622C>T	15.37:g.52402108G>A	ENSP00000453562:p.Pro208Ser					BCL2L10_ENST00000260442.3_Silent_p.V184V	p.P208S			Q9HD36	B2L10_HUMAN		all cancers(107;0.0148)	2	663	-			0					Q3SX80|Q52LQ9|Q8TCS9	Missense_Mutation	SNP	ENST00000561198.1	37	c.622C>T																																																																																					0.438	BCL2L10-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419386.1			4	97	0	0	0	1	0	4	97					A	52402108	G	A	52402108	3	1	473	1	0	0	0	0	1	0	0	0	1368	1161	41	3	66	3	BCL2L10	15	52402108	Missense_Mutation	SNP	G	TCGA-YL-A9WX-01A-21D-A41K-08		52402108	50129284	14	31843											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575|rs397516437		TCGA-YL-A9WX-01A-21D-A41K-08	TCGA-YL-A9WX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f982b5-db69-440a-815e-c90a923179c8	4be95b75-954e-4f4a-840e-f9fc6762bfc8	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(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	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	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)				TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S	p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	43	0	0	0	1	0	5	43					T	7577548	C	T	7577548	3	4	473	1	0	0	0	0	1	0	0	0	16378	652	23	2	557	2	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-YL-A9WX-01A-21D-A41K-08		7577548	73617662	15	31844											
CDH4	1002	broad.mit.edu	37	chr20	60498514	60498514	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatctgttgttccaggcagtCgactacgagctcaacagagc	10	9	11	11	2	2	1	1	0	1	1	4	4	3	1	1	1	4	4	1	1	2	3	rs369825987		TCGA-YL-A9WX-01A-21D-A41K-08	TCGA-YL-A9WX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f982b5-db69-440a-815e-c90a923179c8	4be95b75-954e-4f4a-840e-f9fc6762bfc8	g.chr20:60498514C>T	ENST00000360469.5	+	10	1468	c.1380C>T	c.(1378-1380)gtC>gtT	p.V460V	CDH4_ENST00000543233.1_Silent_p.V386V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	460	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			TCCAGGCAGTCGACTACGAGC	0.622																																						ENST00000360469.5																			0				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						c.(1378-1380)gtC>gtT		cadherin 4, type 1, R-cadherin (retinal)		C		0,4406		0,0,2203	107	94	98		1380	-8.6	0.3	20		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH4	NM_001794.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		460/917	60498514	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60498514C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1380C>T	20.37:g.60498514C>T						CDH4_ENST00000543233.1_Silent_p.V386V	p.V460V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		10	1468	+			460			Cadherin 3.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.1380C>T	CCDS13488.1																																																																																				0.622	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		9	70	0	0	0	1	0	9	70					T	60498514	C	T	60498514	2	4	473	1	0	0	0	0	0	0	0	1	3112	871	31	2		2	CDH4	20	60498514	Silent	SNP	C	TCGA-YL-A9WX-01A-21D-A41K-08		60498514	2527006	16	31845											
CLCNKA	1187	broad.mit.edu	37	chr1	16351304	16351304	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggacagccacctgctccgGtatctttcctggactgtgta	6	11	12	12	1	1	0	0	0	1	0	3	2	3	2	4	4	2	3	4	4	2	3			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr1:16351304G>A	ENST00000331433.4	+	4	295	c.276G>A	c.(274-276)cgG>cgA	p.R92R	CLCNKA_ENST00000464764.1_Intron|CLCNKA_ENST00000420078.1_Silent_p.R92R|CLCNKA_ENST00000375692.1_Silent_p.R92R|CLCNKA_ENST00000439316.2_Intron			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	92					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			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)	ACCTGCTCCGGTATCTTTCCT	0.632																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(274-276)cgG>cgA		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						136	102	114					1																	16351304		2203	4300	6503	SO:0001819	synonymous_variant	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16351304G>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.276G>A	1.37:g.16351304G>A						CLCNKA_ENST00000439316.2_Intron|CLCNKA_ENST00000420078.1_Silent_p.R92R|CLCNKA_ENST00000331433.4_Silent_p.R92R|CLCNKA_ENST00000464764.1_Intron	p.R92R			P51800	CLCKA_HUMAN		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)	5	404	+		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)	92					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	ENST00000331433.4	37	c.276G>A	CCDS167.1																																																																																				0.632	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			5	40	0	0	0	1	0	5	40					A	16351304	G	A	16351304	2	1	474	1	0	0	0	0	0	0	0	1	3469	1248	44	3		3	CLCNKA	1	16351304	Silent	SNP	G	TCGA-YL-A9WY-01A-11D-A41K-08		16351304	232899317	1	31846											
NAV1	89796	broad.mit.edu	37	chr1	201777624	201777624	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagaagaaggaggtatcGgagctgcgctctgagctatg	11	7	15	8	2	1	3	0	1	1	2	2	6	1	5	1	3	3	4	1	3	4	2	rs367990498		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr1:201777624G>A	ENST00000367296.4	+	19	4344	c.3924G>A	c.(3922-3924)tcG>tcA	p.S1308S	NAV1_ENST00000367302.1_Silent_p.S1261S|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367297.4_Silent_p.S1300S|NAV1_ENST00000367300.3_Silent_p.S1248S|NAV1_ENST00000367295.1_Silent_p.S914S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Silent_p.S1305S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1308					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S1305S(1)		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						AGGAGGTATCGGAGCTGCGCT	0.562																																						ENST00000367296.4																			1	Substitution - coding silent(1)	p.S1305S(1)	lung(1)	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						c.(3922-3924)tcG>tcA		neuron navigator 1			,	0,4406		0,0,2203	69	70	70		2742,3924	-11.1	0.1	1		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NAV1	NM_001167738.1,NM_020443.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	914/1484,1308/1878	201777624	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201777624G>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3924G>A	1.37:g.201777624G>A						NAV1_ENST00000367297.4_Silent_p.S1300S|NAV1_ENST00000367295.1_Silent_p.S914S|NAV1_ENST00000295624.6_Silent_p.S1305S|NAV1_ENST00000367302.1_Silent_p.S1261S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Silent_p.S1248S	p.S1308S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			19	4344	+			1308					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.3924G>A	CCDS1414.2																																																																																				0.562	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		3	26	0	0	0	1	0	3	26					A	201777624	G	A	201777624	2	1	474	1	0	0	0	0	0	0	0	1	10183	1103	39	2		2	NAV1	1	201777624	Silent	SNP	G	TCGA-YL-A9WY-01A-11D-A41K-08	185426320	201777624	47472997	2	31847											
MYT1L	23040	broad.mit.edu	37	chr2	1926499	1926499	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttctgctgcggattcctctCctgcgggttggtctcactga	3	14	12	12	2	3	1	1	1	3	0	6	2	4	2	2	3	3	3	2	3	0	3			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr2:1926499C>A	ENST00000399161.2	-	10	1789	c.1042G>T	c.(1042-1044)Gag>Tag	p.E348*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E348*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	348					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			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)		GGATTCCTCTCCTGCGGGTTG	0.572																																						ENST00000399161.2																			0				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						c.(1042-1044)Gag>Tag		myelin transcription factor 1-like							51	56	54					2																	1926499		2120	4234	6354	SO:0001587	stop_gained	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926499C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1042G>T	2.37:g.1926499C>A	ENSP00000382114:p.Glu348*					MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E348*	p.E348*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1789	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	348					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Nonsense_Mutation	SNP	ENST00000399161.2	37	c.1042G>T		.	.	.	.	.	.	.	.	.	.	C	41	9.138691	0.99078	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	.	.	.	5.75	5.75	0.90469	.	0.468764	0.23038	N	0.052646	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-11.4218	19.9447	0.97177	0.0:1.0:0.0:0.0	.	.	.	.	X	348;296;348	.	ENSP00000295067:E296X	E	-	1	0	MYT1L	1905506	1.000000	0.71417	0.848000	0.33437	0.175000	0.22909	3.180000	0.50895	2.719000	0.93026	0.655000	0.94253	GAG		0.572	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		6	39	1	0	1	1	1	6	39					A	1926499	C	A	1926499	4	1	474	1	0	0	0	0	0	1	0	0	10107	864	30	5	2576	5	MYT1L	2	1926499	Nonsense_Mutation	SNP	C	TCGA-YL-A9WY-01A-11D-A41K-08		1926499	241272874	3	31848											
SEMA4F	10505	broad.mit.edu	37	chr2	74889931	74889931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccttttgagccagctcagCggtcagcagctgtaatggct	7	11	12	11	1	2	1	2	1	0	0	3	1	3	1	2	2	5	5	2	2	1	3			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr2:74889931C>T	ENST00000357877.2	+	5	678	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	177	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			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						GCCAGCTCAGCGGTCAGCAGC	0.507																																						ENST00000357877.2																			0				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						c.(529-531)Cgg>Tgg		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F							131	129	129					2																	74889931		2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74889931C>T	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.529C>T	2.37:g.74889931C>T	ENSP00000350547:p.Arg177Trp					SEMA4F_ENST00000339773.5_Intron	p.R177W	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN			5	678	+			177			Sema.		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.529C>T	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083095	0.76642	.	.	ENSG00000135622	ENST00000357877;ENST00000434486	T;T	0.31510	1.49;1.49	5.46	4.58	0.56647	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.076535	0.56097	D	0.000038	T	0.46367	0.1389	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.978	T	0.40021	-0.9585	10	0.66056	D	0.02	.	9.1814	0.37143	0.0:0.9038:0.0:0.0962	.	144;177	C9K0A1;O95754	.;SEM4F_HUMAN	W	177;144	ENSP00000350547:R177W;ENSP00000407698:R144W	ENSP00000350547:R177W	R	+	1	2	SEMA4F	74743439	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	1.020000	0.30027	2.557000	0.86248	0.655000	0.94253	CGG		0.507	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		26	87	0	0	0	1	0	26	87					T	74889931	C	T	74889931	3	4	474	1	0	0	0	0	1	0	0	0	14035	759	27	1	547	1	SEMA4F	2	74889931	Missense_Mutation	SNP	C	TCGA-YL-A9WY-01A-11D-A41K-08	72963432	74889931	168309442	4	31849											
C2orf55	343990	broad.mit.edu	37	chr2	99448880	99448880	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcctgggcagcccgtcGtcctcagagctcatgccggc	4	7	14	16	3	2	1	2	0	0	1	5	1	4	1	4	3	3	3	4	3	0	0			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr2:99448880G>A	ENST00000397899.2	-	5	802	c.471C>T	c.(469-471)gaC>gaT	p.D157D	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	157								p.D157D(2)									GCAGCCCGTCGTCCTCAGAGC	0.587																																						ENST00000397899.2																			2	Substitution - coding silent(2)	p.D157D(2)	endometrium(1)|kidney(1)								c.(469-471)gaC>gaT		KIAA1211-like							60	68	66					2																	99448880		1943	4143	6086	SO:0001819	synonymous_variant	343990							g.chr2:99448880G>A	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 55"	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.471C>T	2.37:g.99448880G>A						KIAA1211L_ENST00000462314.1_5'UTR	p.D157D	NM_207362.2	NP_997245.2					5	802	-									Silent	SNP	ENST00000397899.2	37	c.471C>T	CCDS42720.1																																																																																				0.587	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		12	39	0	0	0	1	0	12	39					A	99448880	G	A	99448880	2	1	474	1	0	0	0	0	0	0	0	1	2176	1136	40	1		1	C2orf55	2	99448880	Silent	SNP	G	TCGA-YL-A9WY-01A-11D-A41K-08	24558949	99448880	143750493	5	31850											
SPEG	10290	broad.mit.edu	37	chr2	220354264	220354264	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaaggctgtgggtccaccaCcccaaacccctccacgaaga	11	5	8	17	1	1	1	1	0	0	1	3	2	3	1	7	2	1	1	7	2	3	0			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr2:220354264C>G	ENST00000312358.7	+	36	8656	c.8524C>G	c.(8524-8526)Ccc>Gcc	p.P2842A	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2842	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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)		GGGTCCACCACCCCAAACCCC	0.667																																						ENST00000312358.7																			0				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						c.(8524-8526)Ccc>Gcc		SPEG complex locus							50	56	54					2																	220354264		1956	4127	6083	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220354264C>G	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8524C>G	2.37:g.220354264C>G	ENSP00000311684:p.Pro2842Ala					AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.P2842A	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		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)	36	8656	+		Renal(207;0.0183)	2842			Pro-rich.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.8524C>G	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332712	0.24167	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.66815	-0.23	4.94	4.94	0.65067	.	0.000000	0.37053	U	0.002270	T	0.48909	0.1526	N	0.22421	0.69	0.80722	D	1	P	0.34724	0.465	B	0.33690	0.168	T	0.45160	-0.9280	10	0.17369	T	0.5	.	11.3114	0.49366	0.0:0.9106:0.0:0.0894	.	2842	Q15772	SPEG_HUMAN	A	2842	ENSP00000311684:P2842A	ENSP00000265327:P2842A	P	+	1	0	SPEG	220062508	0.086000	0.21541	0.985000	0.45067	0.551000	0.35334	2.524000	0.45589	2.299000	0.77371	0.456000	0.33151	CCC		0.667	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		9	86	0	0	0	1	0	9	86					G	220354264	C	G	220354264	3	3	474	1	0	0	0	0	1	0	0	0	15035	507	18	5	8678	5	SPEG	2	220354264	Missense_Mutation	SNP	C	TCGA-YL-A9WY-01A-11D-A41K-08	120905384	220354264	22845109	6	31851											
PLCL2	23228	broad.mit.edu	37	chr3	17051578	17051578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctgggttacaggactgcGgtacctaatttcttatggaa	10	13	10	8	1	2	0	0	0	2	0	2	2	2	2	1	4	3	2	1	4	5	5			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr3:17051578G>A	ENST00000418129.2	+	2	827	c.362G>A	c.(361-363)cGg>cAg	p.R121Q	PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.R121Q|PLCL2_ENST00000432376.1_Missense_Mutation_p.R121Q	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	247					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ACAGGACTGCGGTACCTAATT	0.388																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(361-363)cGg>cAg		phospholipase C-like 2							104	106	105					3																	17051578		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17051578G>A	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.362G>A	3.37:g.17051578G>A	ENSP00000409637:p.Arg121Gln					PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.R121Q|PLCL2_ENST00000432376.1_Missense_Mutation_p.R121Q	p.R121Q	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			2	827	+			247					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.362G>A	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468960	0.84533	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.64260	-0.09;-0.09;-0.09	5.33	5.33	0.75918	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.80199	0.4579	.	.	.	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.987	T	0.80448	-0.1378	9	0.46703	T	0.11	.	19.0202	0.92910	0.0:0.0:1.0:0.0	.	247;121	Q9UPR0;Q9UPR0-2	PLCL2_HUMAN;.	Q	121;248;121;121	ENSP00000409637:R121Q;ENSP00000379979:R121Q;ENSP00000412836:R121Q	ENSP00000285094:R248Q	R	+	2	0	PLCL2	17026582	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.507000	0.84556	0.561000	0.74099	CGG		0.388	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			6	94	0	0	0	1	0	6	94					A	17051578	G	A	17051578	3	1	474	1	0	0	0	0	1	0	0	0	12040	1116	39	2	740	2	PLCL2	3	17051578	Missense_Mutation	SNP	G	TCGA-YL-A9WY-01A-11D-A41K-08		17051578	180970852	7	31852											
BSN	8927	broad.mit.edu	37	chr3	49688109	49688109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggcagcctaggagagcCgacccccctgccgccgccca	7	2	14	18	3	0	1	0	0	0	1	0	4	0	2	8	3	3	1	8	3	1	1	rs199867922		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr3:49688109C>T	ENST00000296452.4	+	4	1697	c.1583C>T	c.(1582-1584)cCg>cTg	p.P528L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	528					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			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)		CTAGGAGAGCCGACCCCCCTG	0.607													C|||	1	0.000199681	0	0	5008	,	,		13125	0.001		0	False		,,,				2504	0					ENST00000296452.4																			0				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						c.(1582-1584)cCg>cTg		bassoon presynaptic cytomatrix protein							55	68	63					3																	49688109		2198	4293	6491	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49688109C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.1583C>T	3.37:g.49688109C>T	ENSP00000296452:p.Pro528Leu						p.P528L	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	4	1697	+			528					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.1583C>T	CCDS2800.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.77	1.737874	0.30774	.	.	ENSG00000164061	ENST00000296452	T	0.18657	2.2	4.87	3.01	0.34805	.	0.115786	0.64402	D	0.000015	T	0.20495	0.0493	L	0.56769	1.78	0.46241	D	0.998943	B	0.16802	0.019	B	0.11329	0.006	T	0.03335	-1.1047	10	0.45353	T	0.12	.	9.3964	0.38406	0.1427:0.7804:0.0:0.0769	.	528	Q9UPA5	BSN_HUMAN	L	528	ENSP00000296452:P528L	ENSP00000296452:P528L	P	+	2	0	BSN	49663113	0.001000	0.12720	0.863000	0.33907	0.775000	0.43874	1.387000	0.34430	0.434000	0.26340	0.655000	0.94253	CCG		0.607	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		4	117	0	0	0	1	0	4	117					T	49688109	C	T	49688109	3	4	474	1	0	0	0	0	1	0	0	0	1530	652	23	2	1597	2	BSN	3	49688109	Missense_Mutation	SNP	C	TCGA-YL-A9WY-01A-11D-A41K-08	32636531	49688109	148334321	8	31853											
AGTR1	185	broad.mit.edu	37	chr3	148459293	148459293	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatttggctgctggcaggCttggccagtttgccagctat	6	13	12	10	0	1	0	1	0	0	0	1	0	1	0	2	4	3	6	2	4	1	4			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr3:148459293C>A	ENST00000497524.1	+	2	862	c.471C>A	c.(469-471)ggC>ggA	p.G157G	AGTR1_ENST00000474935.1_Silent_p.G157G|AGTR1_ENST00000475347.1_Silent_p.G157G|AGTR1_ENST00000461609.1_Silent_p.G157G|AGTR1_ENST00000542281.1_Silent_p.G157G|AGTR1_ENST00000418473.2_Silent_p.G157G|AGTR1_ENST00000404754.2_Silent_p.G157G|AGTR1_ENST00000349243.3_Silent_p.G157G|AGTR1_ENST00000402260.1_Silent_p.G157G	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	157					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TGCTGGCAGGCTTGGCCAGTT	0.443																																						ENST00000542281.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(469-471)ggC>ggA		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						102	98	99					3																	148459293		2203	4300	6503	SO:0001819	synonymous_variant	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459293C>A	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"GPCR / Class A : Angiotensin receptors"	336	protein-coding gene	gene with protein product		106165	"angiotensin receptor 1B"	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.471C>A	3.37:g.148459293C>A						AGTR1_ENST00000402260.1_Silent_p.G157G|AGTR1_ENST00000418473.2_Silent_p.G157G|AGTR1_ENST00000474935.1_Silent_p.G157G|AGTR1_ENST00000475347.1_Silent_p.G157G|AGTR1_ENST00000404754.2_Silent_p.G157G|AGTR1_ENST00000497524.1_Silent_p.G157G|AGTR1_ENST00000461609.1_Silent_p.G157G|AGTR1_ENST00000349243.3_Silent_p.G157G	p.G157G	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	917	+			157					Q13725|Q8TBK4	Silent	SNP	ENST00000497524.1	37	c.471C>A	CCDS3137.1																																																																																				0.443	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			6	139	1	0	0.00116845	1	0.00121018	6	139					A	148459293	C	A	148459293	2	1	474	1	0	0	0	0	0	0	0	1	401	784	28	5		5	AGTR1	3	148459293	Silent	SNP	C	TCGA-YL-A9WY-01A-11D-A41K-08	98771184	148459293	49563137	9	31854											
DRD5	1816	broad.mit.edu	37	chr4	9784459	9784459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagggccgcagagcacgCgcagagctgccggagcagcg	9	1	19	12	5	0	3	0	0	0	3	0	5	0	4	2	3	5	5	2	3	0	0	rs538877978		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr4:9784459C>T	ENST00000304374.2	+	1	1202	c.806C>T	c.(805-807)gCg>gTg	p.A269V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	269			A -> V (in dbSNP:rs2227842). {ECO:0000269|PubMed:7633397}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCAGAGCACGCGCAGAGCTGC	0.632																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(805-807)gCg>gTg		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						26	25	25					4																	9784459		2202	4296	6498	SO:0001583	missense	0				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		g.chr4:9784459C>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.806C>T	4.37:g.9784459C>T	ENSP00000306129:p.Ala269Val						p.A269V	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	1202	+			269		A -> V (in dbSNP:rs2227842).			B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.806C>T	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	18.96	3.734075	0.69189	.	.	ENSG00000169676	ENST00000304374	T	0.68025	-0.3	4.6	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	M	0.65320	2	0.58432	D	0.999992	P	0.41420	0.749	B	0.35312	0.2	T	0.61118	-0.7127	10	0.41790	T	0.15	.	11.6228	0.51128	0.0:0.9145:0.0:0.0855	rs2227842	269	P21918	DRD5_HUMAN	V	269	ENSP00000306129:A269V	ENSP00000306129:A269V	A	+	2	0	DRD5	9393557	1.000000	0.71417	0.992000	0.48379	0.779000	0.44077	5.533000	0.67160	1.163000	0.42636	0.305000	0.20034	GCG		0.632	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			4	26	0	0	0	1	0	4	26					T	9784459	C	T	9784459	3	4	474	1	0	0	0	0	1	0	0	0	4760	768	27	1	808	1	DRD5	4	9784459	Missense_Mutation	SNP	C	TCGA-YL-A9WY-01A-11D-A41K-08		9784459	181369817	10	31855											
POLR2B	5431	broad.mit.edu	37	chr4	57889904	57889904	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggtacttgtggtattcAgtatagacaagaggtaggta	14	11	13	3	0	1	2	1	0	0	2	1	2	1	2	0	4	1	5	0	4	8	8			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr4:57889904A>G	ENST00000381227.1	+	21	3256	c.2843A>G	c.(2842-2844)cAg>cGg	p.Q948R	POLR2B_ENST00000441246.2_Missense_Mutation_p.Q941R|POLR2B_ENST00000431623.2_Missense_Mutation_p.Q873R|POLR2B_ENST00000314595.5_Missense_Mutation_p.Q948R			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	948					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGTGGTATTCAGTATAGACAA	0.333																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(2842-2844)cAg>cGg		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							88	86	87					4																	57889904		2203	4300	6503	SO:0001583	missense	5431				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	g.chr4:57889904A>G		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2843A>G	4.37:g.57889904A>G	ENSP00000370625:p.Gln948Arg					POLR2B_ENST00000314595.5_Missense_Mutation_p.Q948R|POLR2B_ENST00000441246.2_Missense_Mutation_p.Q941R|POLR2B_ENST00000431623.2_Missense_Mutation_p.Q873R	p.Q948R			P30876	RPB2_HUMAN			21	3256	+	Glioma(25;0.08)|all_neural(26;0.181)		948					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.2843A>G	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.456979	0.63401	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.86	5.86	0.93980	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	N	0.12961	0.28	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.55398	-0.8147	10	0.66056	D	0.02	.	16.2605	0.82541	1.0:0.0:0.0:0.0	.	873;948	C9J4M6;P30876	.;RPB2_HUMAN	R	948;873;941;948	ENSP00000370625:Q948R;ENSP00000391096:Q873R;ENSP00000391452:Q941R;ENSP00000312735:Q948R	ENSP00000312735:Q948R	Q	+	2	0	POLR2B	57584661	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.326000	0.96389	2.237000	0.73441	0.460000	0.39030	CAG		0.333	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		14	42	0	0	0	1	0	14	42					G	57889904	A	G	57889904	3	3	474	1	0	0	0	0	1	0	0	0	12215	188	7	4	2921	4	POLR2B	4	57889904	Missense_Mutation	SNP	A	TCGA-YL-A9WY-01A-11D-A41K-08	48105445	57889904	133264372	11	31856											
SPATA5	166378	broad.mit.edu	37	chr4	123848894	123848894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgaccagtgttgcttactaGtttgaacggaaagcaagagg	12	10	12	7	2	0	2	0	1	0	1	1	4	0	3	1	2	4	4	1	2	5	4			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr4:123848894G>T	ENST00000274008.4	+	2	338	c.269G>T	c.(268-270)aGt>aTt	p.S90I	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	90					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TTGCTTACTAGTTTGAACGGA	0.343																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(268-270)aGt>aTt		spermatogenesis associated 5							135	130	132					4																	123848894		2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123848894G>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"ATPases / AAA-type"	18119	protein-coding gene	gene with protein product	"ATPase family gene 2 homolog (S. cerevisiae)"	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.269G>T	4.37:g.123848894G>T	ENSP00000274008:p.Ser90Ile					SPATA5_ENST00000422835.2_3'UTR	p.S90I	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			2	338	+			90					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.269G>T	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038826	0.55003	.	.	ENSG00000145375	ENST00000274008	D	0.83075	-1.68	4.38	3.54	0.40534	Aspartate decarboxylase-like fold (1);	0.181223	0.47852	D	0.000202	D	0.86121	0.5857	L	0.55481	1.735	0.38729	D	0.953633	D;D	0.76494	0.995;0.999	P;D	0.65987	0.873;0.94	D	0.86851	0.2023	10	0.87932	D	0	-26.4409	8.0635	0.30646	0.0908:0.1733:0.736:0.0	.	90;90	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	I	90	ENSP00000274008:S90I	ENSP00000274008:S90I	S	+	2	0	SPATA5	124068344	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	5.649000	0.67936	1.213000	0.43380	0.655000	0.94253	AGT		0.343	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		29	58	1	0	1.13719e-10	1	1.19922e-10	29	58					T	123848894	G	T	123848894	3	4	474	1	0	0	0	0	1	0	0	0	15010	1029	36	5	275	5	SPATA5	4	123848894	Missense_Mutation	SNP	G	TCGA-YL-A9WY-01A-11D-A41K-08	65958990	123848894	67305382	12	31857											
TARS	6897	broad.mit.edu	37	chr5	33459873	33459873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagccgactctggatgacctCgggccactggcagcactaca	9	6	11	15	2	1	1	0	1	1	0	2	3	1	2	3	3	3	2	3	3	1	1			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr5:33459873C>T	ENST00000265112.3	+	11	1468	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L	TARS_ENST00000502553.1_Missense_Mutation_p.S386L|TARS_ENST00000455217.2_Missense_Mutation_p.S419L|TARS_ENST00000541634.1_Missense_Mutation_p.S282L|TARS_ENST00000414361.2_Missense_Mutation_p.S265L	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	386					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGGATGACCTCGGGCCACTGG	0.493																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(1156-1158)tCg>tTg		threonyl-tRNA synthetase	L-Threonine(DB00156)						96	96	96					5																	33459873		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33459873C>T	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1157C>T	5.37:g.33459873C>T	ENSP00000265112:p.Ser386Leu					TARS_ENST00000541634.1_Missense_Mutation_p.S282L|TARS_ENST00000414361.2_Missense_Mutation_p.S265L|TARS_ENST00000502553.1_Missense_Mutation_p.S386L|TARS_ENST00000455217.2_Missense_Mutation_p.S419L	p.S386L	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			11	1468	+			386					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.1157C>T	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454231	0.96223	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	5.9	5.9	0.94986	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.94506	0.8231	H	0.99991	5.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.993;1.0	D	0.97089	0.9789	10	0.87932	D	0	-4.8801	20.2822	0.98520	0.0:1.0:0.0:0.0	.	265;419;282;386	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	L	386;386;282;419;265	ENSP00000424387:S386L;ENSP00000265112:S386L;ENSP00000438469:S282L;ENSP00000387710:S419L;ENSP00000394291:S265L	ENSP00000265112:S386L	S	+	2	0	TARS	33495630	1.000000	0.71417	0.991000	0.47740	0.794000	0.44872	7.818000	0.86416	2.806000	0.96561	0.655000	0.94253	TCG		0.493	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		12	65	0	0	0	1	0	12	65					T	33459873	C	T	33459873	3	4	474	1	0	0	0	0	1	0	0	0	15556	893	31	2	1199	2	TARS	5	33459873	Missense_Mutation	SNP	C	TCGA-YL-A9WY-01A-11D-A41K-08		33459873	147455387	13	31858											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741242	140741242	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagcgcgcagagcggggtgGtgttcgcgcagcgcgccttc	4	7	18	12	7	0	2	0	1	0	1	2	2	0	2	1	3	3	3	1	3	0	2			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr5:140741242G>C	ENST00000522605.1	+	1	1540	c.1540G>C	c.(1540-1542)Gtg>Ctg	p.V514L	PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	514	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGGGGTGGTGTTCGCGCA	0.662																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1540-1542)Gtg>Ctg									34	37	36					5																	140741242		2010	4173	6183	SO:0001583	missense	0							g.chr5:140741242G>C	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1540G>C	5.37:g.140741242G>C	ENSP00000429018:p.Val514Leu					PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.V514L	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1540	+								Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1540G>C	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	0.105	-1.146339	0.01714	.	.	ENSG00000253910	ENST00000522605	T	0.60171	0.21	5.18	0.545	0.17190	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.41789	0.1174	N	0.25245	0.725	0.21675	N	0.999599	B;P	0.46220	0.327;0.874	B;P	0.46975	0.248;0.533	T	0.26849	-1.0091	9	0.06891	T	0.86	.	8.787	0.34827	0.1311:0.5282:0.3407:0.0	.	514;514	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	L	514	ENSP00000429018:V514L	ENSP00000429018:V514L	V	+	1	0	PCDHGB2	140721426	0.000000	0.05858	0.998000	0.56505	0.358000	0.29455	-0.964000	0.03833	0.242000	0.21303	0.467000	0.42956	GTG		0.662	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		17	64	0	0	0	1	0	17	64					C	140741242	G	C	140741242	3	2	474	1	0	0	0	0	1	0	0	0	11563	1261	44	5	1542	5	PCDHGB2	5	140741242	Missense_Mutation	SNP	G	TCGA-YL-A9WY-01A-11D-A41K-08	107281369	140741242	40174018	14	31859											
SYNPO	11346	broad.mit.edu	37	chr5	150028001	150028001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcccagcagtcctcacCggccccacctccagctgagg	8	4	11	18	1	1	2	1	1	0	1	3	2	3	2	7	3	2	2	7	3	0	0			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr5:150028001C>T	ENST00000394243.1	+	3	1270	c.896C>T	c.(895-897)cCg>cTg	p.P299L	SYNPO_ENST00000522122.1_Missense_Mutation_p.P299L|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000519664.1_Missense_Mutation_p.P55L|SYNPO_ENST00000307662.4_Missense_Mutation_p.P55L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	299					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			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)			CAGTCCTCACCGGCCCCACCT	0.582																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(895-897)cCg>cTg		synaptopodin							103	99	101					5																	150028001		2203	4300	6503	SO:0001583	missense	11346				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	g.chr5:150028001C>T	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.896C>T	5.37:g.150028001C>T	ENSP00000377789:p.Pro299Leu					SYNPO_ENST00000519664.1_Missense_Mutation_p.P55L|SYNPO_ENST00000307662.4_Missense_Mutation_p.P55L|SYNPO_ENST00000522122.1_Missense_Mutation_p.P299L|SYNPO_ENST00000518872.1_Intron	p.P299L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1270	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	299					A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.896C>T	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	C	4.961	0.178454	0.09443	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.41400	1.0;1.0;1.11	4.62	2.64	0.31445	.	0.241873	0.29431	N	0.012172	T	0.26122	0.0637	L	0.32530	0.975	0.09310	N	0.999999	P;P	0.46327	0.876;0.655	B;B	0.34301	0.174;0.179	T	0.23190	-1.0195	10	0.87932	D	0	-10.5445	9.7797	0.40640	0.4702:0.5298:0.0:0.0	.	55;299	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	L	299;299;55;55	ENSP00000377789:P299L;ENSP00000428378:P299L;ENSP00000429268:P55L	ENSP00000302139:P55L	P	+	2	0	SYNPO	150008194	0.004000	0.15560	0.008000	0.14137	0.171000	0.22731	2.055000	0.41345	1.244000	0.43870	0.561000	0.74099	CCG		0.582	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		9	84	0	0	0	1	0	9	84					T	150028001	C	T	150028001	3	4	474	1	0	0	0	0	1	0	0	0	15453	652	23	2	902	2	SYNPO	5	150028001	Missense_Mutation	SNP	C	TCGA-YL-A9WY-01A-11D-A41K-08	9286759	150028001	30887259	15	31860											
MBOAT1	154141	broad.mit.edu	37	chr6	20113231	20113231	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtaccatggaacccgctgaTagcacacactgtgaagagag	13	6	12	10	1	0	3	0	2	0	1	0	5	0	4	2	2	3	3	2	2	4	2			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr6:20113231T>C	ENST00000324607.7	-	11	1249	c.1085A>G	c.(1084-1086)tAt>tGt	p.Y362C	MBOAT1_ENST00000541730.1_Missense_Mutation_p.Y213C	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	362					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			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)			AACCCGCTGATAGCACACACT	0.458																																						ENST00000541730.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20						c.(637-639)tAt>tGt		membrane bound O-acyltransferase domain containing 1							103	79	87					6																	20113231		2203	4300	6503	SO:0001583	missense	154141				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr6:20113231T>C	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 1"	611732	"O-acyltransferase (membrane bound) domain containing 1"	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.1085A>G	6.37:g.20113231T>C	ENSP00000324944:p.Tyr362Cys					MBOAT1_ENST00000324607.7_Missense_Mutation_p.Y362C	p.Y213C			Q6ZNC8	MBOA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		10	1233	-	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		362					A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	c.638A>G	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.547666	0.65311	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	D;D	0.88509	-2.39;-2.39	5.83	5.83	0.93111	.	0.054069	0.85682	D	0.000000	D	0.96043	0.8711	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97354	0.9965	10	0.87932	D	0	-6.6645	15.8742	0.79148	0.0:0.0:0.0:1.0	.	213;362	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	C	213;362	ENSP00000441568:Y213C;ENSP00000324944:Y362C	ENSP00000324944:Y362C	Y	-	2	0	MBOAT1	20221210	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	7.759000	0.85235	2.236000	0.73375	0.533000	0.62120	TAT		0.458	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			4	16	0	0	0	1	0	4	16					C	20113231	T	C	20113231	3	2	474	1	0	0	0	0	1	0	0	0	9356	1406	49	4	414	4	MBOAT1	6	20113231	Missense_Mutation	SNP	T	TCGA-YL-A9WY-01A-11D-A41K-08		20113231	151001836	16	31861											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975186	32975186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcaggtagtggaacttgCggaacaaatggtcaggctgg	11	7	17	6	1	1	0	1	0	0	0	1	2	1	2	0	7	3	3	0	7	4	2			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr6:32975186C>T	ENST00000229829.5	-	3	590	c.515G>A	c.(514-516)cGc>cAc	p.R172H	HLA-DOA_ENST00000495532.1_5'Flank|HLA-DOA_ENST00000450833.2_Missense_Mutation_p.R142H	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	172	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GTGGAACTTGCGGAACAAATG	0.597																																						ENST00000229829.5																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(514-516)cGc>cAc		major histocompatibility complex, class II, DO alpha							173	174	174					6																	32975186		1511	2709	4220	SO:0001583	missense	3111				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	g.chr6:32975186C>T	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.515G>A	6.37:g.32975186C>T	ENSP00000229829:p.Arg172His					HLA-DOA_ENST00000450833.2_Missense_Mutation_p.R142H	p.R172H	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN			3	590	-			172			Alpha-2.|Ig-like C1-type.		Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Missense_Mutation	SNP	ENST00000229829.5	37	c.515G>A	CCDS4763.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012953	0.35511	.	.	ENSG00000204252	ENST00000229829;ENST00000450833	T;T	0.02916	4.11;4.11	4.64	4.64	0.57946	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.343498	0.30630	N	0.009210	T	0.02304	0.0071	N	0.11255	0.115	0.37354	D	0.910927	D;P	0.89917	1.0;0.717	D;B	0.69307	0.963;0.115	T	0.69503	-0.5128	10	0.15499	T	0.54	.	15.4237	0.75035	0.0:1.0:0.0:0.0	.	142;172	B4DW77;P06340	.;DOA_HUMAN	H	172;142	ENSP00000229829:R172H;ENSP00000403896:R142H	ENSP00000229829:R172H	R	-	2	0	HLA-DOA	33083164	0.986000	0.35501	0.998000	0.56505	0.925000	0.55904	0.510000	0.22723	2.565000	0.86533	0.655000	0.94253	CGC		0.597	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		4	111	0	0	0	1	0	4	111					T	32975186	C	T	32975186	3	4	474	1	0	0	0	0	1	0	0	0	7200	768	27	1	249	1	HLA-DOA	6	32975186	Missense_Mutation	SNP	C	TCGA-YL-A9WY-01A-11D-A41K-08	12861955	32975186	138139881	17	31862											
C7orf31	136895	broad.mit.edu	37	chr7	25182283	25182283	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcatgagtgtacgaagTgagccagtgggacctctcaa	14	8	11	8	1	2	2	2	2	1	0	3	4	2	3	2	1	2	1	2	1	5	1			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr7:25182283T>C	ENST00000409280.1	-	8	1143	c.835A>G	c.(835-837)Act>Gct	p.T279A	C7orf31_ENST00000283905.3_Missense_Mutation_p.T279A			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	279										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GTGTACGAAGTGAGCCAGTGG	0.358																																						ENST00000409280.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(835-837)Act>Gct		chromosome 7 open reading frame 31							72	75	74					7																	25182283		2203	4300	6503	SO:0001583	missense	136895							g.chr7:25182283T>C	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.835A>G	7.37:g.25182283T>C	ENSP00000386604:p.Thr279Ala					C7orf31_ENST00000283905.3_Missense_Mutation_p.T279A	p.T279A			Q8N865	CG031_HUMAN			8	1143	-			279					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.835A>G	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.591370	0.46214	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.10192	2.9;2.9	5.67	1.73	0.24493	.	0.277118	0.32386	N	0.006176	T	0.12178	0.0296	M	0.75264	2.295	0.30980	N	0.722547	P	0.44521	0.837	B	0.38264	0.269	T	0.10660	-1.0620	10	0.72032	D	0.01	24.0361	7.1302	0.25496	0.3626:0.0:0.1257:0.5117	.	279	Q8N865	CG031_HUMAN	A	279	ENSP00000386604:T279A;ENSP00000283905:T279A	ENSP00000283905:T279A	T	-	1	0	C7orf31	25148808	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	1.064000	0.30579	0.043000	0.15746	0.402000	0.26972	ACT		0.358	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		12	53	0	0	0	1	0	12	53					C	25182283	T	C	25182283	3	2	474	1	0	0	0	0	1	0	0	0	2387	1696	59	4	949	4	C7orf31	7	25182283	Missense_Mutation	SNP	T	TCGA-YL-A9WY-01A-11D-A41K-08		25182283	133956380	18	31863											
BBS9	27241	broad.mit.edu	37	chr7	33573738	33573738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagattatccaaaggtggccGtctctgcctaagtaccgatg	10	11	10	10	2	1	1	0	0	1	1	3	2	2	1	4	2	2	1	4	2	5	4	rs376641244		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr7:33573738G>A	ENST00000242067.6	+	21	2992	c.2471G>A	c.(2470-2472)cGt>cAt	p.R824H	BBS9_ENST00000354265.4_Missense_Mutation_p.R789H|BBS9_ENST00000396127.2_Missense_Mutation_p.R789H|BBS9_ENST00000355070.2_Missense_Mutation_p.R819H|BBS9_ENST00000350941.3_Missense_Mutation_p.R784H	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	824					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AAAGGTGGCCGTCTCTGCCTA	0.483									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(2470-2472)cGt>cAt		Bardet-Biedl syndrome 9							114	84	94					7																	33573738		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33573738G>A		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2471G>A	7.37:g.33573738G>A	ENSP00000242067:p.Arg824His					BBS9_ENST00000396127.2_Missense_Mutation_p.R789H|BBS9_ENST00000350941.3_Missense_Mutation_p.R784H|BBS9_ENST00000354265.4_Missense_Mutation_p.R789H|BBS9_ENST00000355070.2_Missense_Mutation_p.R819H	p.R824H	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		21	2992	+			824					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.2471G>A	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960418	0.53400	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	T;T;T;T;T	0.61627	0.12;0.09;0.09;0.14;0.09	5.93	4.15	0.48705	.	0.000000	0.64402	D	0.000001	T	0.50034	0.1592	L	0.59436	1.845	0.80722	D	1	B;B;B;B;P	0.35433	0.32;0.32;0.32;0.32;0.501	B;B;B;B;B	0.29942	0.081;0.081;0.081;0.081;0.109	T	0.51012	-0.8759	10	0.56958	D	0.05	-13.8109	10.7327	0.46107	0.2023:0.0:0.7977:0.0	.	824;784;819;789;824	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	H	824;784;789;819;789;824	ENSP00000242067:R824H;ENSP00000313122:R784H;ENSP00000379433:R789H;ENSP00000347182:R819H;ENSP00000346214:R789H	ENSP00000242067:R824H	R	+	2	0	BBS9	33540263	1.000000	0.71417	0.742000	0.31022	0.942000	0.58702	6.209000	0.72171	0.870000	0.35726	0.655000	0.94253	CGT		0.483	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			5	32	0	0	0	1	0	5	32					A	33573738	G	A	33573738	3	1	474	1	0	0	0	0	1	0	0	0	1342	1145	40	1	2549	1	BBS9	7	33573738	Missense_Mutation	SNP	G	TCGA-YL-A9WY-01A-11D-A41K-08	8391455	33573738	125564925	19	31864											
ZMIZ2	83637	broad.mit.edu	37	chr7	44799776	44799776	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagttcaacgggcagggCgccagcttcaacgggggcag	9	4	17	11	3	2	0	2	0	0	0	2	1	2	0	1	4	4	5	1	4	2	2			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr7:44799776C>T	ENST00000309315.4	+	8	1143	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G	ZMIZ2_ENST00000441627.1_Silent_p.G340G|ZMIZ2_ENST00000433667.1_Silent_p.G308G|ZMIZ2_ENST00000265346.7_Intron|ZMIZ2_ENST00000413916.1_Intron	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	340	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			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						ACGGGCAGGGCGCCAGCTTCA	0.687																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				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						c.(1018-1020)ggC>ggT		zinc finger, MIZ-type containing 2							29	36	34					7																	44799776		2021	4171	6192	SO:0001819	synonymous_variant	83637				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	g.chr7:44799776C>T	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1020C>T	7.37:g.44799776C>T						ZMIZ2_ENST00000441627.1_Silent_p.G340G|ZMIZ2_ENST00000433667.1_Silent_p.G308G|ZMIZ2_ENST00000413916.1_Intron|ZMIZ2_ENST00000265346.7_Intron	p.G340G	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			8	1143	+			340			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.1020C>T	CCDS43576.1																																																																																				0.687	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		4	28	0	0	0	1	0	4	28					T	44799776	C	T	44799776	2	4	474	1	0	0	0	0	0	0	0	1	17694	755	27	1		1	ZMIZ2	7	44799776	Silent	SNP	C	TCGA-YL-A9WY-01A-11D-A41K-08	11226038	44799776	114338887	20	31865											
HGF	3082	broad.mit.edu	37	chr7	81339552	81339552	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcgttttggcacaagatatTacgggatctgaaacaggacc	12	11	10	8	2	1	2	0	1	1	1	2	4	1	4	1	3	2	2	1	3	4	5			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr7:81339552T>G	ENST00000222390.5	-	13	1678	c.1452A>C	c.(1450-1452)gtA>gtC	p.V484V	HGF_ENST00000457544.2_Silent_p.V479V	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	484					activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CACAAGATATTACGGGATCTG	0.313																																						ENST00000222390.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(1450-1452)gtA>gtC		hepatocyte growth factor (hepapoietin A; scatter factor)							120	107	112					7																	81339552		2203	4300	6503	SO:0001819	synonymous_variant	3082				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	g.chr7:81339552T>G		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1452A>C	7.37:g.81339552T>G						HGF_ENST00000457544.2_Silent_p.V479V	p.V484V	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			13	1678	-			484					A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	c.1452A>C	CCDS5597.1																																																																																				0.313	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		13	69	0	0	0	1	0	13	69					G	81339552	T	G	81339552	2	3	474	1	0	0	0	0	0	0	0	1	7085	1741	61	5		5	HGF	7	81339552	Silent	SNP	T	TCGA-YL-A9WY-01A-11D-A41K-08	36539776	81339552	77799111	21	31866											
CSMD1	64478	broad.mit.edu	37	chr8	2806865	2806865	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtcttttccatgaatgTcaccttgaaaagtaaatcct	14	13	5	9	0	2	2	1	2	1	0	4	2	4	2	3	0	0	1	3	0	6	4	rs368405203		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr8:2806865T>A	ENST00000520002.1	-	69	10916	c.10361A>T	c.(10360-10362)gAc>gTc	p.D3454V	CSMD1_ENST00000537824.1_Missense_Mutation_p.D3453V|CSMD1_ENST00000602723.1_Missense_Mutation_p.D3277V|CSMD1_ENST00000542608.1_Missense_Mutation_p.D3276V|CSMD1_ENST00000400186.3_Missense_Mutation_p.D3277V|CSMD1_ENST00000602557.1_Missense_Mutation_p.D3454V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3454						integral component of membrane (GO:0016021)				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)		TCCATGAATGTCACCTTGAAA	0.333																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(10360-10362)gAc>gTc		CUB and Sushi multiple domains 1							99	91	94					8																	2806865		1809	4069	5878	SO:0001583	missense	64478					integral to membrane		g.chr8:2806865T>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10361A>T	8.37:g.2806865T>A	ENSP00000430733:p.Asp3454Val					CSMD1_ENST00000542608.1_Missense_Mutation_p.D3276V|CSMD1_ENST00000537824.1_Missense_Mutation_p.D3453V|CSMD1_ENST00000400186.3_Missense_Mutation_p.D3277V|CSMD1_ENST00000602723.1_Missense_Mutation_p.D3277V|CSMD1_ENST00000602557.1_Missense_Mutation_p.D3454V	p.D3454V			Q96PZ7	CSMD1_HUMAN		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)	69	10916	-		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)	3454					Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.10361A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.802|9.802	1.180717|1.180717	0.21787|0.21787	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.25414|.	1.8;1.94;1.96;1.8|.	5.6|5.6	4.42|4.42	0.53409|0.53409	.|.	0.134514|.	0.49305|.	D|.	0.000144|.	T|.	0.34483|.	0.0899|.	N|N	0.22421|0.22421	0.69|0.69	0.20821|0.20821	N|N	0.999845|0.999845	B;B;P|.	0.48503|.	0.112;0.001;0.911|.	B;B;P|.	0.47430|.	0.039;0.002;0.547|.	T|.	0.19160|.	-1.0314|.	10|.	0.46703|.	T|.	0.11|.	.|.	13.179|13.179	0.59642|0.59642	0.0:0.0:0.133:0.867|0.0:0.0:0.133:0.867	.|.	3454;3454;3276|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	V|C	3277;3454;3315;3453;3276|2855	ENSP00000383047:D3277V;ENSP00000430733:D3454V;ENSP00000441462:D3453V;ENSP00000446243:D3276V|.	ENSP00000320445:D3315V|.	D|X	-|-	2|3	0|0	CSMD1|CSMD1	2794272|2794272	0.001000|0.001000	0.12720|0.12720	0.011000|0.011000	0.14972|0.14972	0.153000|0.153000	0.21895|0.21895	0.920000|0.920000	0.28705|0.28705	1.013000|1.013000	0.39391|0.39391	0.519000|0.519000	0.50382|0.50382	GAC|TGA		0.333	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	24	0	0	0	1	0	5	24					A	2806865	T	A	2806865	3	1	474	1	0	0	0	0	1	0	0	0	3944	1667	58	5	348	5	CSMD1	8	2806865	Missense_Mutation	SNP	T	TCGA-YL-A9WY-01A-11D-A41K-08		2806865	143557157	22	31867											
ASAP1	50807	broad.mit.edu	37	chr8	131130463	131130463	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgatctgcagttcggacGgcaaggtgaagggctgtctc	7	10	15	9	2	3	2	0	2	3	0	5	3	3	3	0	4	1	4	0	4	2	1	rs371153344		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr8:131130463G>A	ENST00000518721.1	-	20	2051	c.1824C>T	c.(1822-1824)gcC>gcT	p.A608A	ASAP1_ENST00000357668.1_Silent_p.A608A	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	608					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			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						CAGTTCGGACGGCAAGGTGAA	0.408													G|||	1	0.000199681	8e-04	0	5008	,	,		19337	0		0	False		,,,				2504	0					ENST00000357668.1																			0				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						c.(1822-1824)gcC>gcT		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1		G		2,4404	4.2+/-10.8	0,2,2201	73	72	72		1824	-8.5	0.9	8		72	0,8600		0,0,4300	no	coding-synonymous	ASAP1	NM_018482.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		608/1130	131130463	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	50807				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	g.chr8:131130463G>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1824C>T	8.37:g.131130463G>A						ASAP1_ENST00000518721.1_Silent_p.A608A	p.A608A			Q9ULH1	ASAP1_HUMAN			19	1851	-			608					B2RNV3	Silent	SNP	ENST00000518721.1	37	c.1824C>T	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.502877	0.26949	4.54E-4	0.0	ENSG00000153317	ENST00000524124;ENST00000519483	.	.	.	5.8	-8.54	0.00912	.	.	.	.	.	T	0.32376	0.0827	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43081	-0.9413	4	.	.	.	.	1.0078	0.01491	0.2323:0.1841:0.3514:0.2322	.	.	.	.	C	429;22	.	.	R	-	1	0	ASAP1	131199645	0.809000	0.29036	0.906000	0.35671	0.989000	0.77384	-0.133000	0.10451	-1.140000	0.02877	-0.271000	0.10264	CGT		0.408	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		4	18	0	0	0	1	0	4	18					A	131130463	G	A	131130463	2	1	474	1	0	0	0	0	0	0	0	1	1010	1103	39	2		2	ASAP1	8	131130463	Silent	SNP	G	TCGA-YL-A9WY-01A-11D-A41K-08	128323598	131130463	15233559	23	31868											
C9orf93	203238	broad.mit.edu	37	chr9	15971695	15971695	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattggggatttcttaccatTgaaagctgaacttgatacta	12	15	8	6	0	1	3	0	3	1	0	1	4	1	4	1	2	4	1	1	2	6	8			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr9:15971695T>C	ENST00000380701.3	+	26	4170	c.3842T>C	c.(3841-3843)tTg>tCg	p.L1281S	CCDC171_ENST00000486641.2_Intron	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1281																	TTCTTACCATTGAAAGCTGAA	0.418																																						ENST00000380701.3																			0											c.(3841-3843)tTg>tCg		coiled-coil domain containing 171							195	183	187					9																	15971695		2203	4300	6503	SO:0001583	missense	203238							g.chr9:15971695T>C	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3842T>C	9.37:g.15971695T>C	ENSP00000370077:p.Leu1281Ser					CCDC171_ENST00000486641.2_Intron	p.L1281S	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			26	4170	+			1281					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.3842T>C	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.807982	0.31961	.	.	ENSG00000164989	ENST00000380701	T	0.29655	1.56	4.95	4.95	0.65309	.	0.000000	0.42682	D	0.000661	T	0.41166	0.1147	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.40459	-0.9562	10	0.87932	D	0	-4.5421	13.3467	0.60578	0.0:0.0:0.0:1.0	.	1289;1281	B7ZM22;Q6TFL3	.;CI093_HUMAN	S	1281	ENSP00000370077:L1281S	ENSP00000370077:L1281S	L	+	2	0	C9orf93	15961695	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.943000	0.63554	2.075000	0.62263	0.533000	0.62120	TTG		0.418	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		13	94	0	0	0	1	0	13	94					C	15971695	T	C	15971695	3	2	474	1	0	0	0	0	1	0	0	0	2506	1821	63	4	3940	4	C9orf93	9	15971695	Missense_Mutation	SNP	T	TCGA-YL-A9WY-01A-11D-A41K-08		15971695	125241736	24	31869											
PITRM1	10531	broad.mit.edu	37	chr10	3185630	3185630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcggatgcattcacccaCgtaattcaccgggaagggca	11	8	11	11	3	2	0	2	0	0	0	3	2	2	2	2	3	1	4	2	3	2	4	rs371412408		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr10:3185630C>T	ENST00000224949.4	-	23	2630	c.2596G>A	c.(2596-2598)Gtg>Atg	p.V866M	PITRM1_ENST00000451104.2_Missense_Mutation_p.V768M|PITRM1_ENST00000380994.1_Missense_Mutation_p.V424M|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.V867M|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	866					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CATTCACCCACGTAATTCACC	0.587																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(2599-2601)Gtg>Atg		pitrilysin metallopeptidase 1		C	MET/VAL,MET/VAL,MET/VAL	0,4114		0,0,2057	112	118	116		2596,2302,2599	3.1	0	10		116	2,8374		0,2,4186	no	missense,missense,missense	PITRM1	NM_014889.3,NM_001242309.1,NM_001242307.1	21,21,21	0,2,6243	TT,TC,CC		0.0239,0.0,0.016	benign,benign,benign	866/1038,768/940,867/1039	3185630	2,12488	2057	4188	6245	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3185630C>T	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2596G>A	10.37:g.3185630C>T	ENSP00000224949:p.Val866Met					PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.V768M|PITRM1_ENST00000224949.4_Missense_Mutation_p.V866M|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380994.1_Missense_Mutation_p.V424M	p.V867M	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			23	2637	-			768					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.2599G>A	CCDS59208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.321|9.321	1.058072|1.058072	0.19987|0.19987	0.0|0.0	2.39E-4|2.39E-4	ENSG00000107959|ENSG00000107959	ENST00000451454|ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104;ENST00000455371	.|T;T;T;T;T	.|0.46063	.|0.88;0.88;0.88;0.88;0.88	4.96|4.96	3.07|3.07	0.35406|0.35406	.|Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	.|0.367629	.|0.30686	.|N	.|0.009094	T|T	0.41743|0.41743	0.1172|0.1172	M|M	0.73962|0.73962	2.25|2.25	0.31685|0.31685	N|N	0.642644|0.642644	.|P;B;B;B;B	.|0.35894	.|0.526;0.036;0.35;0.35;0.35	.|B;B;B;B;B	.|0.37239	.|0.148;0.019;0.164;0.164;0.244	T|T	0.50906|0.50906	-0.8772|-0.8772	5|10	.|0.48119	.|T	.|0.1	-18.2683|-18.2683	8.186|8.186	0.31339|0.31339	0.0:0.6614:0.0:0.3386|0.0:0.6614:0.0:0.3386	.|.	.|859;768;867;866;859	.|E9PDX6;E7ES23;C9JSL2;Q5JRX3;B4DH07	.|.;.;.;PREP_HUMAN;.	H|M	199|866;859;867;424;768;47	.|ENSP00000224949:V866M;ENSP00000370377:V867M;ENSP00000370382:V424M;ENSP00000401201:V768M;ENSP00000399307:V47M	.|ENSP00000224949:V866M	R|V	-|-	2|1	0|0	PITRM1|PITRM1	3175630|3175630	0.036000|0.036000	0.19791|0.19791	0.005000|0.005000	0.12908|0.12908	0.056000|0.056000	0.15407|0.15407	0.343000|0.343000	0.19944|0.19944	0.484000|0.484000	0.27630|0.27630	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.587	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			15	45	0	0	0	1	0	15	45					T	3185630	C	T	3185630	3	4	474	1	0	0	0	0	1	0	0	0	11953	536	19	1	537	1	PITRM1	10	3185630	Missense_Mutation	SNP	C	TCGA-YL-A9WY-01A-11D-A41K-08		3185630	132349117	25	31870											
NAV2	89797	broad.mit.edu	37	chr11	20119208	20119208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcattggagaaatcaagcGcagcaacacttccgaaacac	16	5	8	12	2	1	1	1	0	0	1	2	3	2	1	1	1	5	3	1	1	4	2	rs200685939		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr11:20119208G>A	ENST00000396087.3	+	34	6374	c.6275G>A	c.(6274-6276)cGc>cAc	p.R2092H	NAV2_ENST00000396085.1_Missense_Mutation_p.R2036H|NAV2_ENST00000349880.4_Missense_Mutation_p.R2033H|NAV2_ENST00000311043.8_Missense_Mutation_p.R1097H|NAV2_ENST00000533917.1_Missense_Mutation_p.R1097H|NAV2_ENST00000527559.2_Missense_Mutation_p.R2021H|NAV2_ENST00000540292.1_Missense_Mutation_p.R2023H|NAV2_ENST00000360655.4_Missense_Mutation_p.R1969H	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2092					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			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						GAAATCAAGCGCAGCAACACT	0.468																																						ENST00000396085.1																			0				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						c.(6106-6108)cGc>cAc		neuron navigator 2		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	126	120	122		5906,3290,6098,6107	6.1	0.9	11		122	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	NAV2	NM_001111018.1,NM_001111019.1,NM_145117.4,NM_182964.5	29,29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1969/2366,1097/1494,2033/2430,2036/2433	20119208	2,13004	2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20119208G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6275G>A	11.37:g.20119208G>A	ENSP00000379396:p.Arg2092His					NAV2_ENST00000360655.4_Missense_Mutation_p.R1969H|NAV2_ENST00000349880.4_Missense_Mutation_p.R2033H|NAV2_ENST00000311043.8_Missense_Mutation_p.R1097H|NAV2_ENST00000533917.1_Missense_Mutation_p.R1097H|NAV2_ENST00000527559.2_Missense_Mutation_p.R2021H|NAV2_ENST00000396087.3_Missense_Mutation_p.R2092H|NAV2_ENST00000540292.1_Missense_Mutation_p.R2023H	p.R2036H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			32	6468	+			2092					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.6107G>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274022	0.80580	0.0	2.33E-4	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	T;T;T;T;T;T;T;T	0.41400	1.0;1.1;1.09;1.2;1.1;1.1;2.64;2.64	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000002	T	0.70850	0.3271	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	T	0.71290	-0.4637	9	.	.	.	.	20.2585	0.98435	0.0:0.0:1.0:0.0	.	2036;1097;2033;1969	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	H	1969;2036;2033;2092;2021;2023;1097;1097	ENSP00000353871:R1969H;ENSP00000379394:R2036H;ENSP00000309577:R2033H;ENSP00000379396:R2092H;ENSP00000435395:R2021H;ENSP00000443489:R2023H;ENSP00000437316:R1097H;ENSP00000312169:R1097H	.	R	+	2	0	NAV2	20075784	1.000000	0.71417	0.890000	0.34922	0.049000	0.14656	5.781000	0.68964	2.894000	0.99253	0.655000	0.94253	CGC		0.468	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		13	75	0	0	0	1	0	13	75					A	20119208	G	A	20119208	3	1	474	1	0	0	0	0	1	0	0	0	10184	1087	38	1	6338	1	NAV2	11	20119208	Missense_Mutation	SNP	G	TCGA-YL-A9WY-01A-11D-A41K-08		20119208	114887308	26	31871											
CTNND1	1500	broad.mit.edu	37	chr11	57569254	57569254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatcggatcaatactacTgggctcctttggcccagcat	8	11	9	13	1	1	0	1	0	0	0	3	1	2	1	3	3	4	2	3	3	3	3			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr11:57569254T>C	ENST00000399050.4	+	7	1542	c.1006T>C	c.(1006-1008)Tgg>Cgg	p.W336R	CTNND1_ENST00000530094.1_Missense_Mutation_p.W235R|CTNND1_ENST00000532649.1_Missense_Mutation_p.W282R|CTNND1_ENST00000415361.2_Missense_Mutation_p.W235R|CTNND1_ENST00000358694.6_Missense_Mutation_p.W336R|CTNND1_ENST00000529986.1_Missense_Mutation_p.W235R|CTNND1_ENST00000532245.1_Missense_Mutation_p.W235R|CTNND1_ENST00000526938.1_Missense_Mutation_p.W336R|CTNND1_ENST00000532463.1_Missense_Mutation_p.W235R|CTNND1_ENST00000529873.1_Missense_Mutation_p.W282R|CTNND1_ENST00000526772.1_Missense_Mutation_p.W13R|CTNND1_ENST00000361332.4_Missense_Mutation_p.W336R|CTNND1_ENST00000533667.1_Missense_Mutation_p.W13R|CTNND1_ENST00000529919.1_Missense_Mutation_p.W336R|CTNND1_ENST00000361796.4_Missense_Mutation_p.W336R|CTNND1_ENST00000525902.1_Missense_Mutation_p.W13R|CTNND1_ENST00000531014.1_Missense_Mutation_p.W13R|CTNND1_ENST00000530748.1_Missense_Mutation_p.W282R|CTNND1_ENST00000534579.1_Missense_Mutation_p.W282R|CTNND1_ENST00000526357.1_Missense_Mutation_p.W282R|CTNND1_ENST00000524630.1_Missense_Mutation_p.W336R|CTNND1_ENST00000426142.2_Missense_Mutation_p.W235R|CTNND1_ENST00000399039.4_Missense_Mutation_p.W336R|CTNND1_ENST00000527467.1_Missense_Mutation_p.W13R|CTNND1_ENST00000532787.1_Missense_Mutation_p.W235R|CTNND1_ENST00000528232.1_Missense_Mutation_p.W235R|CTNND1_ENST00000361391.6_Missense_Mutation_p.W336R|CTNND1_ENST00000532844.1_Missense_Mutation_p.W282R|CTNND1_ENST00000529526.1_Missense_Mutation_p.W282R|CTNND1_ENST00000528621.1_Missense_Mutation_p.W282R|CTNND1_ENST00000428599.2_Missense_Mutation_p.W336R|CTNND1_ENST00000360682.6_Missense_Mutation_p.W336R	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	336					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			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)				TCAATACTACTGGGCTCCTTT	0.507																																						ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(1006-1008)Tgg>Cgg		catenin (cadherin-associated protein), delta 1							77	74	75					11																	57569254		1934	4145	6079	SO:0001583	missense	1500				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	g.chr11:57569254T>C	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1006T>C	11.37:g.57569254T>C	ENSP00000382004:p.Trp336Arg					CTNND1_ENST00000526938.1_Missense_Mutation_p.W336R|CTNND1_ENST00000529919.1_Missense_Mutation_p.W336R|CTNND1_ENST00000399050.4_Missense_Mutation_p.W336R|CTNND1_ENST00000358694.6_Missense_Mutation_p.W336R|CTNND1_ENST00000534579.1_Missense_Mutation_p.W282R|CTNND1_ENST00000527467.1_Missense_Mutation_p.W13R|CTNND1_ENST00000361332.4_Missense_Mutation_p.W336R|CTNND1_ENST00000533667.1_Missense_Mutation_p.W13R|CTNND1_ENST00000528621.1_Missense_Mutation_p.W282R|CTNND1_ENST00000532844.1_Missense_Mutation_p.W282R|CTNND1_ENST00000426142.2_Missense_Mutation_p.W235R|CTNND1_ENST00000530094.1_Missense_Mutation_p.W235R|CTNND1_ENST00000528232.1_Missense_Mutation_p.W235R|CTNND1_ENST00000532787.1_Missense_Mutation_p.W235R|CTNND1_ENST00000428599.2_Missense_Mutation_p.W336R|CTNND1_ENST00000360682.6_Missense_Mutation_p.W336R|CTNND1_ENST00000532463.1_Missense_Mutation_p.W235R|CTNND1_ENST00000526357.1_Missense_Mutation_p.W282R|CTNND1_ENST00000529526.1_Missense_Mutation_p.W282R|CTNND1_ENST00000532649.1_Missense_Mutation_p.W282R|CTNND1_ENST00000532245.1_Missense_Mutation_p.W235R|CTNND1_ENST00000530748.1_Missense_Mutation_p.W282R|CTNND1_ENST00000529873.1_Missense_Mutation_p.W282R|CTNND1_ENST00000399039.4_Missense_Mutation_p.W336R|CTNND1_ENST00000361796.4_Missense_Mutation_p.W336R|CTNND1_ENST00000415361.2_Missense_Mutation_p.W235R|CTNND1_ENST00000526772.1_Missense_Mutation_p.W13R|CTNND1_ENST00000531014.1_Missense_Mutation_p.W13R|CTNND1_ENST00000361391.6_Missense_Mutation_p.W336R|CTNND1_ENST00000529986.1_Missense_Mutation_p.W235R|CTNND1_ENST00000525902.1_Missense_Mutation_p.W13R	p.W336R			O60716	CTND1_HUMAN			7	1519	+		all_epithelial(135;0.155)	336					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.1006T>C	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745665	0.69418	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000533189;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938;ENST00000534647	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.76316	-0.19;-0.18;-0.18;-1.01;-0.56;-0.19;-0.19;-0.1;-0.19;-0.56;-0.2;-0.1;-0.1;-0.19;-0.44;-0.9;-0.19;-0.19;-0.19;-0.19;-0.44;-0.09;-0.45;-0.43;-0.56;-0.42;-0.2;-0.2;-0.18;-0.18;-0.1;-0.19;-0.55;1.92	4.74	4.74	0.60224	Armadillo-like helical (1);	0.185627	0.50627	D	0.000119	T	0.81678	0.4873	L	0.36672	1.1	0.47407	D	0.999412	D;D;D;D;D;D;P;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;0.93;1.0;0.999	D;D;D;D;D;D;P;D;D	0.91635	0.999;0.999;0.996;0.998;0.998;0.998;0.615;0.999;0.997	T	0.81556	-0.0879	10	0.44086	T	0.13	-6.5882	12.6239	0.56618	0.0:0.0:0.0:1.0	.	336;336;336;235;282;282;336;336;336	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	R	336;336;336;13;336;336;282;235;336;336;336;235;235;336;235;13;282;282;282;336;13;235;13;13;282;13;282;282;235;235;235;282;336;258	ENSP00000436543:W336R;ENSP00000434808:W336R;ENSP00000381996:W336R;ENSP00000435242:W13R;ENSP00000353902:W336R;ENSP00000354907:W336R;ENSP00000436323:W282R;ENSP00000409930:W235R;ENSP00000382004:W336R;ENSP00000354785:W336R;ENSP00000354823:W336R;ENSP00000432075:W235R;ENSP00000437156:W235R;ENSP00000351527:W336R;ENSP00000434949:W235R;ENSP00000437051:W13R;ENSP00000435379:W282R;ENSP00000432243:W282R;ENSP00000436744:W282R;ENSP00000413586:W336R;ENSP00000434900:W13R;ENSP00000435266:W235R;ENSP00000432623:W13R;ENSP00000433158:W13R;ENSP00000435494:W282R;ENSP00000434672:W13R;ENSP00000433276:W282R;ENSP00000433334:W282R;ENSP00000437327:W235R;ENSP00000403518:W235R;ENSP00000434017:W235R;ENSP00000435789:W282R;ENSP00000432041:W336R;ENSP00000434202:W258R	ENSP00000351527:W336R	W	+	1	0	CTNND1	57325830	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	3.767000	0.55288	1.976000	0.57569	0.455000	0.32223	TGG		0.507	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		8	39	0	0	0	1	0	8	39					C	57569254	T	C	57569254	3	2	474	1	0	0	0	0	1	0	0	0	4019	1580	55	4	1024	4	CTNND1	11	57569254	Missense_Mutation	SNP	T	TCGA-YL-A9WY-01A-11D-A41K-08	37450046	57569254	77437262	27	31872											
OR10W1	81341	broad.mit.edu	37	chr11	58034735	58034735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaggaagaaaggcacaGcaatggctagtatggctgcc	13	7	14	7	0	0	3	0	2	0	1	0	4	0	4	1	4	2	5	1	4	5	2			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr11:58034735G>T	ENST00000395079.2	-	1	997	c.596C>A	c.(595-597)gCt>gAt	p.A199D		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GAAAGGCACAGCAATGGCTAG	0.547																																						ENST00000395079.2																			0				kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26						c.(595-597)gCt>gAt		olfactory receptor, family 10, subfamily W, member 1							104	86	92					11																	58034735		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034735G>T	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"GPCR / Class A : Olfactory receptors"	15139	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily W, member 1 pseudogene"	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.596C>A	11.37:g.58034735G>T	ENSP00000378516:p.Ala199Asp						p.A199D	NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN			1	997	-		Breast(21;0.0589)	199					A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.596C>A	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	g	16.81	3.226310	0.58668	.	.	ENSG00000172772	ENST00000395079	T	0.38401	1.14	5.86	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.139201	0.33005	N	0.005384	T	0.44871	0.1314	M	0.71036	2.16	0.09310	N	1	D	0.54397	0.966	P	0.49192	0.602	T	0.46005	-0.9222	10	0.59425	D	0.04	.	10.3049	0.43674	0.1919:0.0:0.8081:0.0	.	199	Q8NGF6	O10W1_HUMAN	D	199	ENSP00000378516:A199D	ENSP00000378516:A199D	A	-	2	0	OR10W1	57791311	0.000000	0.05858	0.682000	0.30024	0.921000	0.55340	-0.003000	0.12901	1.442000	0.47568	0.651000	0.88453	GCT		0.547	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		3	28	1	0	0.115264	1	0.117286	3	28					T	58034735	G	T	58034735	3	4	474	1	0	0	0	0	1	0	0	0	10921	971	34	5	325	5	OR10W1	11	58034735	Missense_Mutation	SNP	G	TCGA-YL-A9WY-01A-11D-A41K-08	465481	58034735	76971781	28	31873											
CATSPER1	117144	broad.mit.edu	37	chr11	65792834	65792834	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacgagaagcagcagggccGggggcatcgtgaatcaggct	10	5	17	9	3	1	2	1	1	0	1	2	3	1	2	1	4	3	5	1	4	3	1			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr11:65792834G>A	ENST00000312106.5	-	1	1154	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	339					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CAGCAGGGCCGGGGGCATCGT	0.597																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1015-1017)ccC>ccT		cation channel, sperm associated 1							120	98	105					11																	65792834		2201	4296	6497	SO:0001819	synonymous_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65792834G>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1017C>T	11.37:g.65792834G>A							p.P339P	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	1154	-			339					Q96P76	Silent	SNP	ENST00000312106.5	37	c.1017C>T	CCDS8127.1																																																																																				0.597	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		9	32	0	0	0	1	0	9	32					A	65792834	G	A	65792834	2	1	474	1	0	0	0	0	0	0	0	1	2687	1103	39	2		2	CATSPER1	11	65792834	Silent	SNP	G	TCGA-YL-A9WY-01A-11D-A41K-08	7758099	65792834	69213682	29	31874											
FAM55D	54827	broad.mit.edu	37	chr11	114450890	114450890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtattccatccactggcGgatcgtggaatctcccatta	10	11	9	11	2	1	0	0	0	1	0	5	3	3	2	3	3	0	1	3	3	4	3	rs201579260		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr11:114450890G>A	ENST00000375478.3	-	5	1243	c.1063C>T	c.(1063-1065)Cgc>Tgc	p.R355C	NXPE4_ENST00000424261.2_Missense_Mutation_p.R71C	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	355						extracellular vesicular exosome (GO:0070062)		p.R355C(1)									ATCCACTGGCGGATCGTGGAA	0.423																																						ENST00000375478.3																			1	Substitution - Missense(1)	p.R355C(1)	large_intestine(1)								c.(1063-1065)Cgc>Tgc		neurexophilin and PC-esterase domain family, member 4							198	189	191					11																	114450890		1862	4113	5975	SO:0001583	missense	54827							g.chr11:114450890G>A	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 33", "family with sequence similarity 55, member D"	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1063C>T	11.37:g.114450890G>A	ENSP00000364627:p.Arg355Cys					NXPE4_ENST00000424261.2_Missense_Mutation_p.R71C	p.R355C	NM_001077639.1	NP_001071107.1					5	1243	-								Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.1063C>T	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083386	0.55861	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.57107	0.42;1.66	5.11	3.21	0.36854	.	0.205226	0.34002	N	0.004343	T	0.75110	0.3805	M	0.92507	3.315	0.49130	D	0.999755	D	0.89917	1.0	D	0.76575	0.988	T	0.76642	-0.2884	10	0.62326	D	0.03	.	9.0842	0.36570	0.083:0.148:0.7689:0.0	.	355	Q6UWF7	FA55D_HUMAN	C	71;355	ENSP00000401503:R71C;ENSP00000364627:R355C	ENSP00000364627:R355C	R	-	1	0	FAM55D	113956100	0.676000	0.27567	0.834000	0.33040	0.626000	0.37791	0.858000	0.27845	0.642000	0.30620	-0.176000	0.13171	CGC		0.423	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		11	123	0	0	0	1	0	11	123					A	114450890	G	A	114450890	3	1	474	1	0	0	0	0	1	0	0	0	5587	1116	39	2	579	2	FAM55D	11	114450890	Missense_Mutation	SNP	G	TCGA-YL-A9WY-01A-11D-A41K-08	48658056	114450890	20555626	30	31875											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	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	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	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)		2	226	-	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)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		8	43	0	0	0	1	0	8	43					T	25398284	C	T	25398284	3	4	474	1	0	0	0	0	1	0	0	0	8438	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-YL-A9WY-01A-11D-A41K-08		25398284	108453611	31	31876											
IPO8	10526	broad.mit.edu	37	chr12	30790010	30790010	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctttaggccaaggaaaagGaaaagaattgagggaacaat	18	7	12	4	0	0	2	0	1	0	1	0	5	0	5	1	4	2	1	1	4	9	3	rs373155571		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr12:30790010G>A	ENST00000256079.4	-	22	2939	c.2601C>T	c.(2599-2601)ttC>ttT	p.F867F	IPO8_ENST00000544829.1_Silent_p.F662F	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	867					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAAGGAAAAGGAAAAGAATTG	0.428																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(2599-2601)ttC>ttT		importin 8							139	124	129					12																	30790010		2203	4300	6503	SO:0001819	synonymous_variant	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30790010G>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"Importins"	9853	protein-coding gene	gene with protein product		605600	"RAN binding protein 8"	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2601C>T	12.37:g.30790010G>A						IPO8_ENST00000544829.1_Silent_p.F662F	p.F867F	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			22	2939	-	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)		867					B7Z7M3	Silent	SNP	ENST00000256079.4	37	c.2601C>T	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.346803	0.24426	.	.	ENSG00000133704	ENST00000535598	.	.	.	5.36	4.47	0.54385	.	.	.	.	.	T	0.62024	0.2394	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60332	-0.7284	4	.	.	.	-14.6621	10.5133	0.44874	0.1495:0.0:0.8505:0.0	.	.	.	.	F	25	.	.	S	-	2	0	IPO8	30681277	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.067000	0.30616	1.392000	0.46585	0.650000	0.86243	TCC		0.428	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		16	76	0	0	0	1	0	16	76					A	30790010	G	A	30790010	2	1	474	1	0	0	0	0	0	0	0	1	7798	1165	41	3		3	IPO8	12	30790010	Silent	SNP	G	TCGA-YL-A9WY-01A-11D-A41K-08	5391726	30790010	103061885	32	31877											
ITGA7	3679	broad.mit.edu	37	chr12	56088563	56088563	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccccaggtcctcaccGcagggtccagggcccggacc	5	4	12	20	2	1	0	1	0	0	0	3	1	3	1	8	4	1	1	8	4	0	0	rs368879643	byFrequency	TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr12:56088563G>A	ENST00000555728.1	-	16	2355	c.2327C>T	c.(2326-2328)gCg>gTg	p.A776V	ITGA7_ENST00000257880.7_Splice_Site_p.A776V|ITGA7_ENST00000452168.2_Splice_Site_p.A639V|ITGA7_ENST00000553804.1_Splice_Site_p.A736V|ITGA7_ENST00000394230.2_Splice_Site_p.A736V|ITGA7_ENST00000257879.6_Splice_Site_p.A732V|ITGA7_ENST00000347027.6_Splice_Site_p.A726V|ITGA7_ENST00000394229.2_Splice_Site_p.A732V			Q13683	ITA7_HUMAN	integrin, alpha 7	776					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.A732V(1)|p.A736V(1)		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						GGTCCTCACCGCAGGGTCCAG	0.637													G|||	2	0.000399361	0	0.0014	5008	,	,		16007	0		0	False		,,,				2504	0.001					ENST00000257880.7																			2	Substitution - Missense(2)	p.A732V(1)|p.A736V(1)	endometrium(2)	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						c.e16+1		integrin, alpha 7							43	47	45					12																	56088563		2203	4300	6503	SO:0001630	splice_region_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56088563G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2328+1C>T	12.37:g.56088563G>A						ITGA7_ENST00000553804.1_Splice_Site_p.A736_splice|ITGA7_ENST00000394229.2_Splice_Site_p.A732_splice|ITGA7_ENST00000394230.2_Splice_Site_p.A736_splice|ITGA7_ENST00000452168.2_Splice_Site_p.A639_splice|ITGA7_ENST00000555728.1_Splice_Site_p.A776_splice|ITGA7_ENST00000347027.6_Splice_Site_p.A726_splice|ITGA7_ENST00000257879.6_Splice_Site_p.A732_splice	p.A776_splice			Q13683	ITA7_HUMAN			16	2546	-			776					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Splice_Site	SNP	ENST00000555728.1	37	c.2328_splice		.	.	.	.	.	.	.	.	.	.	G	12.69	2.012668	0.35511	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	4.66	0.476	0.16779	Integrin alpha-2 (1);	9.079770	0.00166	N	0.000015	T	0.23451	0.0567	N	0.08118	0	0.50171	D	0.99985	B;B;B;B	0.18968	0.002;0.001;0.001;0.032	B;B;B;B	0.14023	0.003;0.009;0.002;0.01	T	0.13072	-1.0523	10	0.29301	T	0.29	.	4.213	0.10521	0.3073:0.1703:0.5224:0.0	.	639;776;736;795	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	V	736;732;726;639;776;736;732;605;776	ENSP00000452120:A736V;ENSP00000257879:A732V;ENSP00000343009:A726V;ENSP00000393844:A639V;ENSP00000257880:A776V;ENSP00000377777:A736V;ENSP00000377776:A732V;ENSP00000452387:A776V	ENSP00000257879:A732V	A	-	2	0	ITGA7	54374830	0.002000	0.14202	0.992000	0.48379	0.955000	0.61496	-0.247000	0.08866	-0.121000	0.11787	0.555000	0.69702	GCG		0.637	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206	Missense_Mutation	7	52	0	0	0	1	0	7	52					A	56088563	G	A	56088563	5	1	474	1	0	0	0	0	0	0	1	0	7881	1101	38	1	1262	1	ITGA7	12	56088563	Splice_Site	SNP	G	TCGA-YL-A9WY-01A-11D-A41K-08	25298553	56088563	77763332	33	31878											
KIF5A	3798	broad.mit.edu	37	chr12	57963897	57963897	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgcgcccgaggagcggcaGaaatacgaggaggagatccg	12	3	16	10	6	0	2	0	0	0	2	2	7	1	4	2	4	2	1	2	4	2	1			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr12:57963897G>A	ENST00000455537.2	+	12	1519	c.1245G>A	c.(1243-1245)caG>caA	p.Q415Q	KIF5A_ENST00000286452.5_Silent_p.Q326Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	415					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			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						AGGAGCGGCAGAAATACGAGG	0.632																																						ENST00000455537.2																			0				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						c.(1243-1245)caG>caA		kinesin family member 5A							49	40	43					12																	57963897		2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57963897G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1245G>A	12.37:g.57963897G>A						KIF5A_ENST00000286452.5_Silent_p.Q326Q	p.Q415Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			12	1519	+			415					A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.1245G>A	CCDS8945.1																																																																																				0.632	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		6	24	0	0	0	1	0	6	24					A	57963897	G	A	57963897	2	1	474	1	0	0	0	0	0	0	0	1	8305	933	33	3		3	KIF5A	12	57963897	Silent	SNP	G	TCGA-YL-A9WY-01A-11D-A41K-08	1875334	57963897	75887998	34	31879											
C14orf101	54916	broad.mit.edu	37	chr14	57075905	57075905	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtccaccttcccatctcaTcttaccttaatcacgcccgg	8	12	4	17	2	3	0	2	0	2	0	6	0	5	0	5	1	1	0	5	1	2	3			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr14:57075905T>C	ENST00000261556.6	+	6	840	c.718T>C	c.(718-720)Tct>Cct	p.S240P	TMEM260_ENST00000538838.1_Missense_Mutation_p.S240P|TMEM260_ENST00000536419.1_5'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	240						integral component of membrane (GO:0016021)											TCCCATCTCATCTTACCTTAA	0.502																																						ENST00000261556.6																			0											c.(718-720)Tct>Cct		transmembrane protein 260							267	255	259					14																	57075905		2203	4300	6503	SO:0001583	missense	54916							g.chr14:57075905T>C	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 101"	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.718T>C	14.37:g.57075905T>C	ENSP00000261556:p.Ser240Pro					TMEM260_ENST00000538838.1_Missense_Mutation_p.S240P|TMEM260_ENST00000536419.1_5'UTR	p.S240P	NM_017799.3	NP_060269.3					6	840	+								A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	c.718T>C	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	T	16.13	3.036953	0.54896	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.51574	1.33;0.7	6.06	4.89	0.63831	.	0.107476	0.64402	D	0.000003	T	0.58004	0.2092	L	0.43646	1.37	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.54118	-0.8341	10	0.33940	T	0.23	-9.6812	12.539	0.56158	0.125:0.0:0.0:0.875	.	240	Q9NX78	CN101_HUMAN	P	240	ENSP00000261556:S240P;ENSP00000441934:S240P	ENSP00000261556:S240P	S	+	1	0	C14orf101	56145658	1.000000	0.71417	0.998000	0.56505	0.440000	0.31957	7.930000	0.87610	1.073000	0.40885	0.528000	0.53228	TCT		0.502	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		37	151	0	0	0	1	0	37	151					C	57075905	T	C	57075905	3	2	474	1	0	0	0	0	1	0	0	0	1734	1435	50	4	740	4	C14orf101	14	57075905	Missense_Mutation	SNP	T	TCGA-YL-A9WY-01A-11D-A41K-08		57075905	50273635	35	31880											
SOLH	6650	broad.mit.edu	37	chr16	603374	603374	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgtcccagctagagggcaAcgccggcttctctatcaccc	7	9	9	16	2	2	1	1	0	1	1	4	1	3	1	3	2	2	3	3	2	3	4			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr16:603374A>G	ENST00000219611.2	+	14	3482	c.3119A>G	c.(3118-3120)aAc>aGc	p.N1040S	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	1040					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTAGAGGGCAACGCCGGCTTC	0.677																																						ENST00000219611.2																			0											c.(3118-3120)aAc>aGc		calpain 15							57	59	58					16																	603374		2200	4299	6499	SO:0001583	missense	6650							g.chr16:603374A>G	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.3119A>G	16.37:g.603374A>G	ENSP00000219611:p.Asn1040Ser					LA16c-366D1.3_ENST00000565879.1_RNA	p.N1040S	NM_005632.2	NP_005623.1					14	3482	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.3119A>G	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	a	5.057	0.196105	0.09599	.	.	ENSG00000103326	ENST00000219611	D	0.87103	-2.21	4.9	3.8	0.43715	.	0.252628	0.43416	D	0.000563	T	0.76948	0.4059	N	0.01576	-0.805	0.49389	D	0.999784	D	0.69078	0.997	D	0.75020	0.985	T	0.74668	-0.3588	10	0.02654	T	1	.	9.2015	0.37260	0.912:0.0:0.088:0.0	.	1040	O75808	CAN15_HUMAN	S	1040	ENSP00000219611:N1040S	ENSP00000219611:N1040S	N	+	2	0	SOLH	543375	1.000000	0.71417	0.990000	0.47175	0.688000	0.40055	6.645000	0.74343	1.969000	0.57287	0.414000	0.27820	AAC		0.677	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		21	41	0	0	0	1	0	21	41					G	603374	A	G	603374	3	3	474	1	0	0	0	0	1	0	0	0	14925	43	2	4	3161	4	SOLH	16	603374	Missense_Mutation	SNP	A	TCGA-YL-A9WY-01A-11D-A41K-08		603374	89751379	36	31881											
PLCG2	5336	broad.mit.edu	37	chr16	81891938	81891938	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggaagcgatgaatgcGtccacgcccaccattatcga	12	6	9	14	4	0	1	0	1	0	0	2	4	1	2	4	1	2	0	4	1	3	1			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr16:81891938G>A	ENST00000359376.3	+	4	622	c.408G>A	c.(406-408)gcG>gcA	p.A136A	PLCG2_ENST00000565400.1_3'UTR	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	136					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CGATGAATGCGTCCACGCCCA	0.478																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(406-408)gcG>gcA		phospholipase C, gamma 2 (phosphatidylinositol-specific)							134	134	134					16																	81891938		2036	4204	6240	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81891938G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.408G>A	16.37:g.81891938G>A						PLCG2_ENST00000565400.1_3'UTR	p.A136A	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			4	622	+			136					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.408G>A	CCDS42204.1																																																																																				0.478	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			13	72	0	0	0	1	0	13	72					A	81891938	G	A	81891938	2	1	474	1	0	0	0	0	0	0	0	1	12036	1132	40	1		1	PLCG2	16	81891938	Silent	SNP	G	TCGA-YL-A9WY-01A-11D-A41K-08	81288564	81891938	8462815	37	31882											
TP53	7157	broad.mit.edu	37	chr17	7578400	7578400	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgagcagcgctcatggtggGggcagcgcctcacaacctcc	7	6	13	15	2	2	1	2	1	0	0	3	1	3	1	3	3	4	3	3	3	1	0			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr17:7578400G>C	ENST00000269305.4	-	5	719	c.530C>G	c.(529-531)cCc>cGc	p.P177R	TP53_ENST00000455263.2_Missense_Mutation_p.P177R|TP53_ENST00000359597.4_Missense_Mutation_p.P177R|TP53_ENST00000420246.2_Missense_Mutation_p.P177R|TP53_ENST00000413465.2_Missense_Mutation_p.P177R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.P177R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	177	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTCATGGTGGGGGCAGCGCCT	0.647		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)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		92	Substitution - Missense(41)|Deletion - In frame(20)|Deletion - Frameshift(20)|Whole gene deletion(8)|Complex - deletion inframe(3)	p.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(1)	large_intestine(15)|breast(12)|upper_aerodigestive_tract(10)|skin(8)|ovary(8)|haematopoietic_and_lymphoid_tissue(7)|stomach(5)|central_nervous_system(5)|lung(4)|liver(4)|oesophagus(4)|bone(4)|pancreas(3)|prostate(3)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(529-531)cCc>cGc	Other conserved DNA damage response genes	tumor protein p53							48	48	48					17																	7578400		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578400G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.530C>G	17.37:g.7578400G>C	ENSP00000269305:p.Pro177Arg	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)				TP53_ENST00000445888.2_Missense_Mutation_p.P177R|TP53_ENST00000269305.4_Missense_Mutation_p.P177R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.P177R|TP53_ENST00000455263.2_Missense_Mutation_p.P177R|TP53_ENST00000413465.2_Missense_Mutation_p.P177R	p.P177R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	662	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	177		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.530C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535580	0.85812	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052869	0.85682	N	0.000000	D	0.99894	0.9949	M	0.90082	3.085	0.80722	D	1	D;D;D;D;P;D;D	0.89917	0.999;0.962;0.974;1.0;0.882;0.97;0.998	D;P;P;D;P;P;D	0.87578	0.99;0.79;0.86;0.998;0.78;0.867;0.978	D	0.96047	0.9028	10	0.87932	D	0	-24.4396	14.492	0.67657	0.0:0.1481:0.8519:0.0	.	138;177;177;84;177;177;177	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	177;177;177;177;177;177;166;84;45;84;45	ENSP00000410739:P177R;ENSP00000352610:P177R;ENSP00000269305:P177R;ENSP00000398846:P177R;ENSP00000391127:P177R;ENSP00000391478:P177R;ENSP00000425104:P45R;ENSP00000423862:P84R	ENSP00000269305:P177R	P	-	2	0	TP53	7519125	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.813000	0.99286	1.475000	0.48197	0.655000	0.94253	CCC		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	41	0	0	0	1	0	16	41					C	7578400	G	C	7578400	3	2	474	1	0	0	0	0	1	0	0	0	16378	1232	43	5	768	5	TP53	17	7578400	Missense_Mutation	SNP	G	TCGA-YL-A9WY-01A-11D-A41K-08		7578400	73616810	38	31883											
HDAC5	10014	broad.mit.edu	37	chr17	42168661	42168661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgagggtgctctgctgcCgggcctgctccagcaacagc	7	7	13	14	1	1	1	0	1	1	0	2	1	2	1	3	2	7	4	3	2	2	0			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr17:42168661C>T	ENST00000393622.2	-	11	1695	c.1364G>A	c.(1363-1365)cGg>cAg	p.R455Q	HDAC5_ENST00000586802.1_Missense_Mutation_p.R455Q|HDAC5_ENST00000225983.6_Missense_Mutation_p.R456Q|HDAC5_ENST00000336057.5_Missense_Mutation_p.R455Q	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	455					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			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)		GCTCTGCTGCCGGGCCTGCTC	0.637																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(1366-1368)cGg>cAg		histone deacetylase 5							23	21	21					17																	42168661		2201	4298	6499	SO:0001583	missense	10014				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	g.chr17:42168661C>T	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.1364G>A	17.37:g.42168661C>T	ENSP00000377244:p.Arg455Gln					HDAC5_ENST00000586802.1_Missense_Mutation_p.R455Q|HDAC5_ENST00000393622.2_Missense_Mutation_p.R455Q|HDAC5_ENST00000336057.5_Missense_Mutation_p.R455Q	p.R456Q			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	11	1690	-		Breast(137;0.00637)|Prostate(33;0.0313)	455					C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.1367G>A	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494585	0.85069	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.48522	0.84;0.84;0.81	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000003	T	0.66046	0.2750	M	0.76574	2.34	0.58432	D	0.999998	D;D;D;D	0.71674	0.998;0.997;0.998;0.997	D;D;D;D	0.75484	0.986;0.968;0.979;0.953	T	0.62263	-0.6891	10	0.10111	T	0.7	-27.201	17.4703	0.87645	0.0:1.0:0.0:0.0	.	455;455;456;455	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	Q	456;455;455	ENSP00000225983:R456Q;ENSP00000377244:R455Q;ENSP00000337290:R455Q	ENSP00000225983:R456Q	R	-	2	0	HDAC5	39524187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.021000	0.41020	2.422000	0.82143	0.561000	0.74099	CGG		0.637	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		3	11	0	0	0	1	0	3	11					T	42168661	C	T	42168661	3	4	474	1	0	0	0	0	1	0	0	0	7010	652	23	2	2072	2	HDAC5	17	42168661	Missense_Mutation	SNP	C	TCGA-YL-A9WY-01A-11D-A41K-08	34590261	42168661	39026549	39	31884											
ZNF99	7652	broad.mit.edu	37	chr19	22941154	22941154	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctaagggctgagaaatgCttaaaagctttgccacattc	12	13	8	8	0	1	1	0	1	1	1	2	2	1	1	1	1	3	3	1	1	4	5			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr19:22941154C>G	ENST00000596209.1	-	4	1647	c.1557G>C	c.(1555-1557)aaG>aaC	p.K519N	ZNF99_ENST00000397104.3_Missense_Mutation_p.K428N	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTGAGAAATGCTTAAAAGCTT	0.353																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1282-1284)aaG>aaC		zinc finger protein 99							36	37	37					19																	22941154		2012	4190	6202	SO:0001583	missense	7652							g.chr19:22941154C>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1557G>C	19.37:g.22941154C>G	ENSP00000472969:p.Lys519Asn					ZNF99_ENST00000596209.1_Missense_Mutation_p.K519N	p.K428N							5	1283	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1284G>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	0.006	-2.118307	0.00349	.	.	ENSG00000213973	ENST00000397104	T	0.07567	3.18	1.16	-2.32	0.06745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	L	0.33753	1.03	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46721	-0.9171	9	0.14252	T	0.57	.	1.8516	0.03170	0.1596:0.3714:0.3123:0.1568	.	428	A8MXY4	ZNF99_HUMAN	N	428	ENSP00000380293:K428N	ENSP00000380293:K428N	K	-	3	2	ZNF99	22732994	0.000000	0.05858	0.002000	0.10522	0.184000	0.23303	-7.212000	0.00041	-1.397000	0.02068	-1.031000	0.02408	AAG		0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		4	62	0	0	0	1	0	4	62					G	22941154	C	G	22941154	3	3	474	1	0	0	0	0	1	0	0	0	18201	796	28	5	1840	5	ZNF99	19	22941154	Missense_Mutation	SNP	C	TCGA-YL-A9WY-01A-11D-A41K-08		22941154	36187829	40	31885											
PSG11	5680	broad.mit.edu	37	chr19	43529017	43529017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatatataattatttgacCgtctactacatatgatgtaa	14	16	4	7	1	1	2	0	2	1	0	2	2	2	2	2	0	2	1	2	0	8	9			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr19:43529017C>T	ENST00000401740.1	-	2	359	c.256G>A	c.(256-258)Ggt>Agt	p.G86S	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.G86S|PSG11_ENST00000306322.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	86	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ATTATTTGACCGTCTACTACA	0.448																																						ENST00000401740.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(256-258)Ggt>Agt		pregnancy specific beta-1-glycoprotein 11							177	171	173					19																	43529017		2199	4296	6495	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43529017C>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.256G>A	19.37:g.43529017C>T	ENSP00000384995:p.Gly86Ser					PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.G86S	p.G86S			Q9UQ72	PSG11_HUMAN			2	359	-		Prostate(69;0.00682)	86			Ig-like V-type.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.256G>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	0.030	-1.338143	0.01287	.	.	ENSG00000243130	ENST00000320078;ENST00000401740	T;T	0.63913	-0.07;-0.07	0.929	-1.86	0.07760	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32376	0.0827	N	0.05230	-0.09	0.09310	N	1	B	0.21688	0.059	B	0.21917	0.037	T	0.20438	-1.0275	9	0.10111	T	0.7	.	6.4413	0.21851	0.0:0.6647:0.0:0.3353	.	86	Q9UQ72	PSG11_HUMAN	S	86	ENSP00000319140:G86S;ENSP00000384995:G86S	ENSP00000319140:G86S	G	-	1	0	PSG11	48220857	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.611000	0.02062	-1.529000	0.01754	-1.499000	0.00960	GGT		0.448	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		11	202	0	0	0	1	0	11	202					T	43529017	C	T	43529017	3	4	474	1	0	0	0	0	1	0	0	0	12654	652	23	2	767	2	PSG11	19	43529017	Missense_Mutation	SNP	C	TCGA-YL-A9WY-01A-11D-A41K-08	20587863	43529017	15599966	41	31886											
PROKR2	128674	broad.mit.edu	37	chr20	5294673	5294673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagagctgccgtaccaCgtagtagtccatctcgaagg	10	7	12	12	3	1	1	0	0	1	1	3	3	2	1	4	2	3	4	4	2	4	3	rs138672528		TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr20:5294673C>T	ENST00000217270.3	-	1	342	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	PROKR2_ENST00000546004.1_Missense_Mutation_p.V115M	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	115			V -> M (in HH3; phenotype consistent with Kallmann syndrome; digenic inheritance; the patient also carries a mutation in PROK2). {ECO:0000269|PubMed:23643382}.		circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.V115M(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGCCGTACCACGTAGTAGTCC	0.587										HNSCC(71;0.22)			C|||	1	0.000199681	0	0	5008	,	,		21599	0.001		0	False		,,,				2504	0					ENST00000546004.1																			1	Substitution - Missense(1)	p.V115M(1)	endometrium(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53	GRCh37	CM083838	PROKR2	M	rs138672528	c.(343-345)Gtg>Atg		prokineticin receptor 2		C	MET/VAL	0,4406		0,0,2203	136	104	115		343	5.3	1	20	dbSNP_134	115	2,8598	2.2+/-6.3	0,2,4298	no	missense	PROKR2	NM_144773.2	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	115/385	5294673	2,13004	2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5294673C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.343G>A	20.37:g.5294673C>T	ENSP00000217270:p.Val115Met	HNSCC(71;0.22)				PROKR2_ENST00000217270.3_Missense_Mutation_p.V115M	p.V115M			Q8NFJ6	PKR2_HUMAN			2	589	-			115					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.343G>A	CCDS13089.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.58	3.425811	0.62733	0.0	2.33E-4	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.74526	-0.85;-0.85	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85483	0.5707	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86326	0.1695	10	0.62326	D	0.03	.	16.8404	0.85967	0.0:1.0:0.0:0.0	.	115	Q8NFJ6	PKR2_HUMAN	M	115	ENSP00000440790:V115M;ENSP00000217270:V115M	ENSP00000217270:V115M	V	-	1	0	PROKR2	5242673	1.000000	0.71417	0.994000	0.49952	0.083000	0.17756	7.747000	0.85070	2.637000	0.89404	0.655000	0.94253	GTG		0.587	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		13	37	0	0	0	1	0	13	37					T	5294673	C	T	5294673	3	4	474	1	0	0	0	0	1	0	0	0	12553	536	19	1	818	1	PROKR2	20	5294673	Missense_Mutation	SNP	C	TCGA-YL-A9WY-01A-11D-A41K-08		5294673	57730847	42	31887											
PI3	5266	broad.mit.edu	37	chr20	43804750	43804750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgctgtgaaggctcttgcGggatggcctgtttcgttccc	4	13	14	10	2	1	1	0	1	1	0	3	2	2	2	2	3	2	4	2	3	1	3			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr20:43804750G>A	ENST00000243924.3	+	2	375	c.328G>A	c.(328-330)Ggg>Agg	p.G110R		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	110	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G110W(1)		large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				AGGCTCTTGCGGGATGGCCTG	0.552																																						ENST00000243924.3																			1	Substitution - Missense(1)	p.G110W(1)	lung(1)	large_intestine(1)|lung(5)|skin(1)	7						c.(328-330)Ggg>Agg		peptidase inhibitor 3, skin-derived							97	88	91					20																	43804750		2203	4300	6503	SO:0001583	missense	5266				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	g.chr20:43804750G>A	D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"WAP four-disulfide core domain containing"	8947	protein-coding gene	gene with protein product	"skin-derived antileukoproteinase", "trappin-2"	182257	"protease inhibitor 3, skin-derived (SKALP)"			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.328G>A	20.37:g.43804750G>A	ENSP00000243924:p.Gly110Arg						p.G110R	NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN			2	375	+		Myeloproliferative disorder(115;0.0122)	110			WAP.		E1P618|Q6FG74	Missense_Mutation	SNP	ENST00000243924.3	37	c.328G>A	CCDS13344.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503286	0.64298	.	.	ENSG00000124102	ENST00000243924	T	0.76839	-1.05	4.49	4.49	0.54785	Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	0.000000	0.41712	D	0.000832	D	0.90573	0.7045	H	0.94771	3.58	0.20764	N	0.999854	D	0.89917	1.0	D	0.97110	1.0	D	0.84168	0.0432	10	0.87932	D	0	.	13.4053	0.60908	0.0:0.0:1.0:0.0	.	110	P19957	ELAF_HUMAN	R	110	ENSP00000243924:G110R	ENSP00000243924:G110R	G	+	1	0	PI3	43238164	0.355000	0.24921	0.078000	0.20375	0.101000	0.19017	1.438000	0.35002	2.432000	0.82394	0.650000	0.86243	GGG		0.552	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079418.3	NM_002638		4	52	0	0	0	1	0	4	52					A	43804750	G	A	43804750	3	1	474	1	0	0	0	0	1	0	0	0	11870	1116	39	2	334	2	PI3	20	43804750	Missense_Mutation	SNP	G	TCGA-YL-A9WY-01A-11D-A41K-08	38510077	43804750	19220770	43	31888											
CELSR1	9620	broad.mit.edu	37	chr22	46806424	46806424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctggcaggttggggacacCccccaggagtagagggccgg	7	6	17	11	1	1	1	0	0	1	1	1	3	1	3	4	7	0	3	4	7	1	3			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chr22:46806424C>T	ENST00000262738.3	-	7	4803	c.4804G>A	c.(4804-4806)Ggt>Agt	p.G1602S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1602	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			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)		TTGGGGACACCCCCCAGGAGT	0.642																																						ENST00000262738.3																			0				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						c.(4804-4806)Ggt>Agt		cadherin, EGF LAG seven-pass G-type receptor 1							68	62	64					22																	46806424		2203	4300	6503	SO:0001583	missense	9620				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	g.chr22:46806424C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4804G>A	22.37:g.46806424C>T	ENSP00000262738:p.Gly1602Ser						p.G1602S	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	7	4803	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1602			Laminin G-like 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4804G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184077	0.78677	.	.	ENSG00000075275	ENST00000262738	D	0.97378	-4.36	4.73	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	U	0.000002	D	0.98845	0.9610	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99799	1.1035	10	0.87932	D	0	.	17.3404	0.87294	0.0:1.0:0.0:0.0	.	1602	Q9NYQ6	CELR1_HUMAN	S	1602	ENSP00000262738:G1602S	ENSP00000262738:G1602S	G	-	1	0	CELSR1	45185088	1.000000	0.71417	0.952000	0.39060	0.265000	0.26407	7.215000	0.77966	2.178000	0.69098	0.655000	0.94253	GGT		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		3	50	0	0	0	1	0	3	50					T	46806424	C	T	46806424	3	4	474	1	0	0	0	0	1	0	0	0	3221	623	22	3	4356	3	CELSR1	22	46806424	Missense_Mutation	SNP	C	TCGA-YL-A9WY-01A-11D-A41K-08		46806424	4498142	44	31889											
MED12	9968	broad.mit.edu	37	chrX	70349256	70349256	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatggagccgtgtttgctgTtctcaaggctgtgtttgtac	5	15	14	7	1	1	0	1	0	1	0	2	2	1	2	1	3	3	6	1	3	2	4			TCGA-YL-A9WY-01A-11D-A41K-08	TCGA-YL-A9WY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a12577d4-bd62-4861-8ff9-5a105aefd37d	f34aa0a2-b38e-4ace-9e89-354122af4010	g.chrX:70349256T>G	ENST00000374080.3	+	26	3700	c.3668T>G	c.(3667-3669)gTt>gGt	p.V1223G	MED12_ENST00000333646.6_Missense_Mutation_p.V1223G|MED12_ENST00000374102.1_Missense_Mutation_p.V1223G			Q93074	MED12_HUMAN	mediator complex subunit 12	1223					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTGTTTGCTGTTCTCAAGGCT	0.567			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3667-3669)gTt>gGt		mediator complex subunit 12							50	52	51					X																	70349256		2088	4190	6278	SO:0001583	missense	9968				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	g.chrX:70349256T>G	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3668T>G	X.37:g.70349256T>G	ENSP00000363193:p.Val1223Gly		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374080.3_Missense_Mutation_p.V1223G|MED12_ENST00000374102.1_Missense_Mutation_p.V1223G	p.V1223G	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			26	3867	+	Renal(35;0.156)		1223					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3668T>G	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	20.5	4.003063	0.74932	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.59224	0.2178	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.997	T	0.63937	-0.6524	10	0.87932	D	0	-14.5208	14.2257	0.65858	0.0:0.0:0.0:1.0	.	1223;1070;1223;1223	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	G	1223;1223;1223;1223;1191	ENSP00000333125:V1223G;ENSP00000363215:V1223G;ENSP00000363193:V1223G;ENSP00000414203:V1191G	ENSP00000333125:V1223G	V	+	2	0	MED12	70265981	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.283000	0.78640	2.003000	0.58678	0.430000	0.28490	GTT		0.567	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		12	9	0	0	0	1	0	12	9					G	70349256	T	G	70349256	3	3	474	1	0	0	0	0	1	0	0	0	9428	1725	60	5	3770	5	MED12	23	70349256	Missense_Mutation	SNP	T	TCGA-YL-A9WY-01A-11D-A41K-08		70349256	84921304	45	31890											
RPRD2	23248	broad.mit.edu	37	chr1	150429782	150429782	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcatataaaacctttgctAaccgagtaaacaatttaaag	18	10	6	7	1	0	0	0	0	0	0	0	1	0	0	2	1	4	3	2	1	9	7			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr1:150429782A>T	ENST00000369068.4	+	8	893	c.889A>T	c.(889-891)Aac>Tac	p.N297Y	RPRD2_ENST00000401000.4_Missense_Mutation_p.N271Y|RPRD2_ENST00000539519.1_Missense_Mutation_p.N271Y|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	297						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				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						AACCTTTGCTAACCGAGTAAA	0.388																																						ENST00000401000.4																			0				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						c.(811-813)Aac>Tac		regulation of nuclear pre-mRNA domain containing 2							78	74	75					1																	150429782		1842	4094	5936	SO:0001583	missense	23248						protein binding	g.chr1:150429782A>T	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.889A>T	1.37:g.150429782A>T	ENSP00000358064:p.Asn297Tyr					RPRD2_ENST00000539519.1_Missense_Mutation_p.N271Y|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.N297Y	p.N271Y			Q5VT52	RPRD2_HUMAN			7	876	+			297					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.811A>T	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.182460	0.78677	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.53206	0.65;0.63;0.68	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.63843	1.955	0.58432	D	0.999998	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.87578	0.966;0.982;0.998	T	0.64428	-0.6410	10	0.87932	D	0	-14.3141	15.4834	0.75545	1.0:0.0:0.0:0.0	.	271;297;271	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	Y	271;271;297	ENSP00000383785:N271Y;ENSP00000445482:N271Y;ENSP00000358064:N297Y	ENSP00000358064:N297Y	N	+	1	0	RPRD2	148696406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.507000	0.90522	2.291000	0.77112	0.519000	0.50382	AAC		0.388	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		10	49	0	0	0	1	0	10	49					T	150429782	A	T	150429782	3	4	475	1	0	0	0	0	1	0	0	0	13617	362	13	5	919	5	RPRD2	1	150429782	Missense_Mutation	SNP	A	TCGA-ZG-A8QW-01A-11D-A377-08		150429782	98820839	1	31891											
ASH1L	55870	broad.mit.edu	37	chr1	155348170	155348170	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaaggggtttgacatcAacgtagacatcttgaaaaga	16	8	10	7	1	2	5	1	2	1	3	2	5	2	5	1	2	1	2	1	2	5	3			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr1:155348170A>T	ENST00000368346.3	-	10	6888	c.6249T>A	c.(6247-6249)gtT>gtA	p.V2083V	ASH1L_ENST00000392403.3_Silent_p.V2078V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2083	Catalytic domain.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			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)			GTTTGACATCAACGTAGACAT	0.413																																						ENST00000368346.3																			0				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						c.(6247-6249)gtT>gtA		ash1 (absent, small, or homeotic)-like (Drosophila)							150	146	147					1																	155348170		2203	4300	6503	SO:0001819	synonymous_variant	55870				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	g.chr1:155348170A>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6249T>A	1.37:g.155348170A>T						ASH1L_ENST00000392403.3_Silent_p.V2078V	p.V2083V			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		10	6888	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2083					Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.6249T>A																																																																																					0.413	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		23	110	0	0	0	1	0	23	110					T	155348170	A	T	155348170	2	4	475	1	0	0	0	0	0	0	0	1	1041	117	5	5		5	ASH1L	1	155348170	Silent	SNP	A	TCGA-ZG-A8QW-01A-11D-A377-08	4918388	155348170	93902451	2	31892											
MIA3	375056	broad.mit.edu	37	chr1	222838751	222838751	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggggatttttacctggAcacgcaccatttagaccttt	8	13	8	12	2	0	1	0	0	0	1	1	3	0	3	4	3	1	1	4	3	2	6			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr1:222838751A>T	ENST00000344922.5	+	28	5539	c.5514A>T	c.(5512-5514)ggA>ggT	p.G1838G	AIDA_ENST00000474863.1_5'Flank|MIA3_ENST00000340535.7_Silent_p.G716G|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.G1838G	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1838	Pro-rich.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				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)		TTTTACCTGGACACGCACCAT	0.547																																						ENST00000344922.5																			0				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						c.(5512-5514)ggA>ggT		melanoma inhibitory activity family, member 3							220	223	222					1																	222838751		1908	4120	6028	SO:0001819	synonymous_variant	375056				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	g.chr1:222838751A>T		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5514A>T	1.37:g.222838751A>T						MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.G1838G|MIA3_ENST00000340535.7_Silent_p.G716G	p.G1838G	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	28	5539	+			1838			Pro-rich.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	c.5514A>T	CCDS41470.1																																																																																				0.547	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		17	301	0	0	0	1	0	17	301					T	222838751	A	T	222838751	2	4	475	1	0	0	0	0	0	0	0	1	9565	262	10	5		5	MIA3	1	222838751	Silent	SNP	A	TCGA-ZG-A8QW-01A-11D-A377-08	67490581	222838751	26411870	3	31893											
DBI	1622	broad.mit.edu	37	chr2	120129876	120129877	+	Frame_Shift_Ins	INS	-	-	A																															acaaagtagaagagctaaagINSaaaaaatacgggatatgaga																								rs375121791		TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr2:120129876_120129877insA	ENST00000355857.3	+	4	377_378	c.246_247insA	c.(247-249)aaafs	p.K83fs	DBI_ENST00000542275.1_Frame_Shift_Ins_p.K144fs|DBI_ENST00000535757.1_Frame_Shift_Ins_p.K100fs|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000393103.2_Frame_Shift_Ins_p.K84fs|DBI_ENST00000409094.1_Frame_Shift_Ins_p.K100fs|DBI_ENST00000535617.1_Frame_Shift_Ins_p.K125fs|DBI_ENST00000311521.4_Frame_Shift_Ins_p.K100fs	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	83	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						AAGAGCTAAAGAAAAAATACGG	0.416																																						ENST00000542275.1																			0				kidney(1)|lung(4)|skin(1)	6						c.(427-432)aaaaaafs		diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)																																				SO:0001589	frameshift_variant	1622				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding	g.chr2:120129876_120129877insA	L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"endozepine"	125950	"diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.252dupA	2.37:g.120129882_120129882dupA	ENSP00000348116:p.Lys83fs					DBI_ENST00000460901.1_3'UTR|DBI_ENST00000311521.4_Frame_Shift_Ins_p.KK99fs|DBI_ENST00000409094.1_Frame_Shift_Ins_p.KK99fs|DBI_ENST00000355857.3_Frame_Shift_Ins_p.KK82fs|DBI_ENST00000535757.1_Frame_Shift_Ins_p.KK99fs|DBI_ENST00000393103.2_Frame_Shift_Ins_p.KK83fs|DBI_ENST00000535617.1_Frame_Shift_Ins_p.KK124fs	p.KK143fs	NM_001178017.1	NP_001171488.1	P07108	ACBP_HUMAN			4	513_514	+			82					B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Frame_Shift_Ins	INS	ENST00000355857.3	37	c.429_430insA	CCDS42740.1																																																																																				0.416	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330590.1	NM_020548		11	66						11	66	---	---	---	---	A	120129877	-	A	120129876	7	5	475	1	0	1	1	0	0	0	0	0	4251	933	33	0	566	0	DBI	2	120129876	Frame_Shift_Ins	INS	-	TCGA-ZG-A8QW-01A-11D-A377-08		120129876	123069497	4	31894											
SPEG	10290	broad.mit.edu	37	chr2	220332079	220332079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagatgcatttcgatggccGcaaatgcaagctgctactta	12	10	9	10	2	0	1	0	0	0	1	1	2	0	1	1	1	5	5	1	1	5	3			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr2:220332079G>A	ENST00000312358.7	+	10	3197	c.3065G>A	c.(3064-3066)cGc>cAc	p.R1022H	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1022	Ig-like 4.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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)		TTCGATGGCCGCAAATGCAAG	0.587																																						ENST00000312358.7																			0				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						c.(3064-3066)cGc>cAc		SPEG complex locus							62	69	66					2																	220332079		2156	4263	6419	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220332079G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3065G>A	2.37:g.220332079G>A	ENSP00000311684:p.Arg1022His					SPEG_ENST00000485813.1_3'UTR	p.R1022H	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		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)	10	3197	+		Renal(207;0.0183)	1022			Ig-like 4.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.3065G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271258	0.23221	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.71579	-0.58	4.62	4.62	0.57501	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39615	N	0.001306	T	0.65144	0.2663	N	0.21282	0.65	0.80722	D	1	D	0.58620	0.983	P	0.53490	0.727	T	0.63287	-0.6671	10	0.33940	T	0.23	.	10.8593	0.46817	0.0867:0.0:0.9133:0.0	.	1022	Q15772	SPEG_HUMAN	H	1022	ENSP00000311684:R1022H	ENSP00000265327:R1022H	R	+	2	0	SPEG	220040323	1.000000	0.71417	0.979000	0.43373	0.797000	0.45037	1.907000	0.39897	2.396000	0.81511	0.561000	0.74099	CGC		0.587	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		3	63	0	0	0	1	0	3	63					A	220332079	G	A	220332079	3	1	475	1	0	0	0	0	1	0	0	0	15035	1087	38	1	3115	1	SPEG	2	220332079	Missense_Mutation	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08	100202203	220332079	22867294	5	31895											
NDUFB5	4711	broad.mit.edu	37	chr3	179341804	179341804	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaacttattgatcattcTccgaaagcaactcctgacaa	15	10	6	10	1	2	2	1	2	1	0	4	4	3	3	2	1	3	1	2	1	6	3			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr3:179341804T>A	ENST00000259037.3	+	6	660	c.546T>A	c.(544-546)tcT>tcA	p.S182S	NDUFB5_ENST00000493866.1_Silent_p.S130S|NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Silent_p.S170S	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	182					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|lung(6)|skin(1)	8	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)			TTGATCATTCTCCGAAAGCAA	0.333																																						ENST00000493866.1																			0				endometrium(1)|lung(6)|skin(1)	8						c.(388-390)tcT>tcA		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	NADH(DB00157)						140	133	136					3																	179341804		2203	4300	6503	SO:0001819	synonymous_variant	4711				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr3:179341804T>A	AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"Mitochondrial respiratory chain complex / Complex I"	7700	protein-coding gene	gene with protein product	"complex I SGDH subunit"	603841	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.546T>A	3.37:g.179341804T>A						NDUFB5_ENST00000472629.1_Silent_p.S170S|NDUFB5_ENST00000259037.3_Silent_p.S182S|NDUFB5_ENST00000473500.1_3'UTR	p.S130S	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		4	415	+	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		182					Q561V6	Silent	SNP	ENST00000259037.3	37	c.390T>A	CCDS3234.1	.	.	.	.	.	.	.	.	.	.	T	1.708	-0.499766	0.04291	.	.	ENSG00000136521	ENST00000482604	.	.	.	5.17	2.66	0.31614	.	.	.	.	.	T	0.53948	0.1828	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42396	-0.9454	4	.	.	.	-8.9792	5.7745	0.18271	0.3172:0.0:0.145:0.5378	.	.	.	.	H	199	.	.	L	+	2	0	NDUFB5	180824498	0.304000	0.24472	1.000000	0.80357	0.101000	0.19017	0.469000	0.22067	0.248000	0.21435	0.523000	0.50628	CTC		0.333	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492		7	129	0	0	0	1	0	7	129					A	179341804	T	A	179341804	2	1	475	1	0	0	0	0	0	0	0	1	10284	1538	54	5		5	NDUFB5	3	179341804	Silent	SNP	T	TCGA-ZG-A8QW-01A-11D-A377-08		179341804	18680626	6	31896											
FAM193A	8603	broad.mit.edu	37	chr4	2698141	2698141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaatgagggaaaagcttCgcttacggctgaccaagagg	14	6	13	8	2	0	4	0	2	0	2	1	5	0	5	1	3	2	3	1	3	5	2			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr4:2698141C>A	ENST00000324666.5	+	16	2806	c.2455C>A	c.(2455-2457)Cgc>Agc	p.R819S	FAM193A_ENST00000545951.1_Missense_Mutation_p.R819S|FAM193A_ENST00000505311.1_Missense_Mutation_p.R819S|FAM193A_ENST00000382839.3_Missense_Mutation_p.R819S|FAM193A_ENST00000502458.1_Missense_Mutation_p.R841S	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	819										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						GGAAAAGCTTCGCTTACGGCT	0.408																																						ENST00000324666.5																			0				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						c.(2455-2457)Cgc>Agc		family with sequence similarity 193, member A							93	93	93					4																	2698141		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2698141C>A	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2455C>A	4.37:g.2698141C>A	ENSP00000324587:p.Arg819Ser					FAM193A_ENST00000545951.1_Missense_Mutation_p.R819S|FAM193A_ENST00000505311.1_Missense_Mutation_p.R819S|FAM193A_ENST00000502458.1_Missense_Mutation_p.R841S|FAM193A_ENST00000382839.3_Missense_Mutation_p.R819S	p.R819S	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			16	2806	+			819					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.2455C>A	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	C	31	5.089534	0.94149	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.59364	0.38;0.78;0.37;0.38;0.27	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.998	T	0.78301	-0.2257	10	0.66056	D	0.02	-20.5598	17.8501	0.88744	0.0:1.0:0.0:0.0	.	819;841;819;841;819	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	S	819;819;819;841;673	ENSP00000372290:R819S;ENSP00000324587:R819S;ENSP00000443617:R819S;ENSP00000427505:R841S;ENSP00000427260:R673S	ENSP00000324587:R819S	R	+	1	0	FAM193A	2667939	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.646000	0.83445	2.464000	0.83262	0.603000	0.83216	CGC		0.408	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		4	65	1	0	0.00909568	1	0.00909568	4	65					A	2698141	C	A	2698141	3	1	475	1	0	0	0	0	1	0	0	0	5524	884	31	5	2509	5	FAM193A	4	2698141	Missense_Mutation	SNP	C	TCGA-ZG-A8QW-01A-11D-A377-08		2698141	188456135	7	31897											
D4S234E	27065	broad.mit.edu	37	chr4	4419157	4419157	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagcggctgagaagtcaGcttagcgggatgggcaagtt	10	8	16	7	2	1	2	1	2	0	1	1	4	1	3	0	3	3	4	0	3	4	2			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr4:4419157G>C	ENST00000421177.2	+	9	2544	c.553G>C	c.(553-555)Gct>Cct	p.A185P	NSG1_ENST00000397958.1_Missense_Mutation_p.A185P|NSG1_ENST00000513555.1_Missense_Mutation_p.A185P|NSG1_ENST00000504171.1_Missense_Mutation_p.A146P|NSG1_ENST00000505246.1_Missense_Mutation_p.A185P|NSG1_ENST00000433139.2_Missense_Mutation_p.A185P|NSG1_ENST00000506380.1_Missense_Mutation_p.A185P|STX18_ENST00000505286.1_Intron			P42857	NSG1_HUMAN		185					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TGAGAAGTCAGCTTAGCGGGA	0.478																																						ENST00000421177.2																			0											c.(553-555)Gct>Cct									78	76	77					4																	4419157		2203	4300	6503	SO:0001583	missense	0							g.chr4:4419157G>C																												ENST00000421177.2:c.553G>C	4.37:g.4419157G>C	ENSP00000388823:p.Ala185Pro					NSG1_ENST00000433139.2_Missense_Mutation_p.A185P|NSG1_ENST00000513555.1_Missense_Mutation_p.A185P|NSG1_ENST00000506380.1_Missense_Mutation_p.A185P|NSG1_ENST00000504171.1_Missense_Mutation_p.A146P|NSG1_ENST00000397958.1_Missense_Mutation_p.A185P|STX18_ENST00000505286.1_Intron|NSG1_ENST00000505246.1_Missense_Mutation_p.A185P	p.A185P							9	2544	+								B4DXC5|Q49AQ1	Missense_Mutation	SNP	ENST00000421177.2	37	c.553G>C	CCDS3376.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739920	0.89573	.	.	ENSG00000168824	ENST00000421177;ENST00000513555;ENST00000505246;ENST00000506380;ENST00000397958;ENST00000433139;ENST00000504171	.	.	.	4.64	4.64	0.57946	.	0.148667	0.44902	D	0.000406	T	0.75265	0.3826	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	T	0.78727	-0.2091	9	0.87932	D	0	-23.148	17.5367	0.87834	0.0:0.0:1.0:0.0	.	146;185	B4DXC5;P42857	.;NSG1_HUMAN	P	185;185;185;185;185;185;146	.	ENSP00000381049:A185P	A	+	1	0	AC110814.1	4470058	1.000000	0.71417	0.856000	0.33681	0.982000	0.71751	8.517000	0.90555	2.131000	0.65755	0.561000	0.74099	GCT		0.478	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1			12	72	0	0	0	1	0	12	72					C	4419157	G	C	4419157	3	2	475	1	0	0	0	0	1	0	0	0	4214	971	34	5	567	5	D4S234E	4	4419157	Missense_Mutation	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08	1721016	4419157	186735119	8	31898											
VEGFC	7424	broad.mit.edu	37	chr4	177713364	177713364	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtccgagaggtcgagtccGgactcgaaggcggcggcggc	6	4	19	12	8	0	1	0	0	0	1	4	5	2	2	2	6	0	0	2	6	1	0			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr4:177713364G>A	ENST00000280193.2	-	1	517	c.102C>T	c.(100-102)tcC>tcT	p.S34S		NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	34					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GGTCGAGTCCGGACTCGAAgg	0.697																																						ENST00000280193.2																			0				biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41						c.(100-102)tcC>tcT		vascular endothelial growth factor C							13	16	15					4																	177713364		1831	4054	5885	SO:0001819	synonymous_variant	7424				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	g.chr4:177713364G>A	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"vascular endothelial growth factor-related protein"	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.102C>T	4.37:g.177713364G>A							p.S34S	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN		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)	1	517	-		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)	34					B2R9Q8	Silent	SNP	ENST00000280193.2	37	c.102C>T	CCDS43285.1																																																																																				0.697	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		3	22	0	0	0	1	0	3	22					A	177713364	G	A	177713364	2	1	475	1	0	0	0	0	0	0	0	1	17149	1103	39	2		2	VEGFC	4	177713364	Silent	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08	173294207	177713364	13440912	9	31899											
FTMT	94033	broad.mit.edu	37	chr5	121187717	121187717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcgctggcgtctctgcGcccggtgcgctgctgcttcg	0	11	13	17	6	1	0	0	0	1	0	4	0	1	0	2	2	4	4	2	2	0	2			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr5:121187717G>A	ENST00000321339.1	+	1	68	c.59G>A	c.(58-60)cGc>cAc	p.R20H		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	20					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		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)		GCGTCTCTGCGCCCGGTGCGC	0.736																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(58-60)cGc>cAc		ferritin mitochondrial							18	20	19					5																	121187717		2199	4296	6495	SO:0001583	missense	94033				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	g.chr5:121187717G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.59G>A	5.37:g.121187717G>A	ENSP00000313691:p.Arg20His						p.R20H	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	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)	1	68	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	20						Missense_Mutation	SNP	ENST00000321339.1	37	c.59G>A	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.593745	0.28445	.	.	ENSG00000181867	ENST00000321339	T	0.67171	-0.25	2.95	-0.0318	0.13908	.	.	.	.	.	T	0.47060	0.1425	L	0.29908	0.895	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.27839	-1.0062	9	0.36615	T	0.2	.	3.2629	0.06855	0.2822:0.2391:0.4787:0.0	.	20	Q8N4E7	FTMT_HUMAN	H	20	ENSP00000313691:R20H	ENSP00000313691:R20H	R	+	2	0	FTMT	121215616	0.052000	0.20516	0.000000	0.03702	0.001000	0.01503	0.606000	0.24194	-0.031000	0.13781	-0.142000	0.14014	CGC		0.736	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		14	30	0	0	0	1	0	14	30					A	121187717	G	A	121187717	3	1	475	1	0	0	0	0	1	0	0	0	6085	1087	38	1	61	1	FTMT	5	121187717	Missense_Mutation	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08		121187717	59727543	10	31900											
EXOC4	60412	broad.mit.edu	37	chr7	132937913	132937914	+	Frame_Shift_Ins	INS	-	-	C																															acagtcagcaaaagcaaagaINScccctcggggctgctcatct																								rs560096370	byFrequency	TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr7:132937913_132937914insC	ENST00000253861.4	+	1	85_86	c.56_57insC	c.(55-60)gaccccfs	p.DP19fs	EXOC4_ENST00000393161.2_Frame_Shift_Ins_p.DP19fs|EXOC4_ENST00000539845.1_5'Flank	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	19					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AAAAGCAAAGACCCCTCGGGGC	0.624																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(55-57)gccfs		exocyst complex component 4																																				SO:0001589	frameshift_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:132937913_132937914insC	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.60dupC	7.37:g.132937917_132937917dupC	ENSP00000253861:p.Asp19fs					EXOC4_ENST00000393161.2_Frame_Shift_Ins_p.A19fs	p.A19fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			1	85_86	+		Esophageal squamous(399;0.129)	19					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Frame_Shift_Ins	INS	ENST00000253861.4	37	c.56_57insC	CCDS5829.1																																																																																				0.624	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		15	64						15	64	---	---	---	---	C	132937914	-	C	132937913	7	5	475	1	0	1	1	0	0	0	0	0	5306	275	10	0	58	0	EXOC4	7	132937913	Frame_Shift_Ins	INS	-	TCGA-ZG-A8QW-01A-11D-A377-08		132937913	26200750	11	31901											
TNFRSF10B	8795	broad.mit.edu	37	chr8	22886093	22886093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagggtgtacaatcaccgaCcttgaccatccctctgggac	9	8	9	15	1	2	1	1	1	1	0	3	3	3	2	5	2	1	1	5	2	2	2			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr8:22886093C>T	ENST00000276431.4	-	5	783	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.V167I|TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.V16I	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	167					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CAATCACCGACCTTGACCATC	0.567																																					GBM(94;1064 1342 1839 21060 42553)	ENST00000276431.4																			0				NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15						c.(499-501)Gtc>Atc		tumor necrosis factor receptor superfamily, member 10b							136	120	125					8																	22886093		2203	4300	6503	SO:0001583	missense	8795				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	g.chr8:22886093C>T	AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"Tumor necrosis factor receptor superfamily", "CD molecules"	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.499G>A	8.37:g.22886093C>T	ENSP00000276431:p.Val167Ile					TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.V167I|TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.V16I|TNFRSF10B_ENST00000519910.1_5'UTR	p.V167I	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)	5	783	-		Prostate(55;0.0421)|Breast(100;0.067)	167					O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	ENST00000276431.4	37	c.499G>A	CCDS6035.1	.	.	.	.	.	.	.	.	.	.	c	14.24	2.476713	0.44044	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	T;T;T	0.38077	1.16;1.16;1.16	4.41	0.218	0.15270	TNFR/CD27/30/40/95 cysteine-rich region (3);	.	.	.	.	T	0.38825	0.1055	L	0.49126	1.545	0.09310	N	1	D;P;P;P	0.67145	0.996;0.633;0.633;0.595	P;B;B;B	0.58266	0.836;0.24;0.171;0.343	T	0.20140	-1.0284	9	0.29301	T	0.29	.	1.8611	0.03189	0.1586:0.4935:0.1549:0.193	.	16;167;167;167	B7Z588;B5BU36;O14763;O14763-2	.;.;TR10B_HUMAN;.	I	167;167;16	ENSP00000276431:V167I;ENSP00000317859:V167I;ENSP00000443386:V16I	ENSP00000276431:V167I	V	-	1	0	TNFRSF10B	22942038	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.085000	0.03390	-0.029000	0.13827	0.563000	0.77884	GTC		0.567	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187		5	88	0	0	0	1	0	5	88					T	22886093	C	T	22886093	3	4	475	1	0	0	0	0	1	0	0	0	16278	507	18	3	843	3	TNFRSF10B	8	22886093	Missense_Mutation	SNP	C	TCGA-ZG-A8QW-01A-11D-A377-08		22886093	123477929	12	31902											
ADCY8	114	broad.mit.edu	37	chr8	131826458	131826458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgccaaaggaagtccaggcGggctgtgtactccagctgca	9	7	13	12	2	0	0	0	0	0	0	3	1	2	1	3	3	3	4	3	3	3	1			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr8:131826458G>A	ENST00000286355.5	-	14	4862	c.2770C>T	c.(2770-2772)Cgc>Tgc	p.R924C	ADCY8_ENST00000377928.3_Missense_Mutation_p.R793C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	924					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.R924C(1)|p.R924G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGTCCAGGCGGGCTGTGTAC	0.507										HNSCC(32;0.087)																												ENST00000286355.5																			2	Substitution - Missense(2)	p.R924C(1)|p.R924G(1)	upper_aerodigestive_tract(1)|lung(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2770-2772)Cgc>Tgc		adenylate cyclase 8 (brain)							135	108	117					8																	131826458		2203	4300	6503	SO:0001583	missense	114				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	g.chr8:131826458G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2770C>T	8.37:g.131826458G>A	ENSP00000286355:p.Arg924Cys	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.R793C	p.R924C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		14	4862	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		924						Missense_Mutation	SNP	ENST00000286355.5	37	c.2770C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079468	0.76528	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.86097	-2.07;-1.72	5.87	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.92938	0.7753	M	0.90650	3.135	0.45330	D	0.99832	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.93269	0.6650	10	0.87932	D	0	.	12.0088	0.53276	0.0:0.0:0.7613:0.2387	.	793;924	E7EVL1;P40145	.;ADCY8_HUMAN	C	924;793	ENSP00000286355:R924C;ENSP00000367161:R793C	ENSP00000286355:R924C	R	-	1	0	ADCY8	131895640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.532000	0.45659	2.941000	0.99782	0.655000	0.94253	CGC		0.507	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			18	73	0	0	0	1	0	18	73					A	131826458	G	A	131826458	3	1	475	1	0	0	0	0	1	0	0	0	300	1116	39	2	1005	2	ADCY8	8	131826458	Missense_Mutation	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08	108940365	131826458	14537564	13	31903											
ZFAT	57623	broad.mit.edu	37	chr8	135524840	135524840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcctcaggagcttctgttGctgtctaaataaaaacatag	12	12	8	9	0	3	0	1	0	2	0	4	1	4	1	1	1	3	4	1	1	6	5			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr8:135524840G>A	ENST00000377838.3	-	14	3413	c.3239C>T	c.(3238-3240)gCa>gTa	p.A1080V	ZFAT_ENST00000520727.1_Missense_Mutation_p.A1068V|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000429442.2_Missense_Mutation_p.A1068V|ZFAT_ENST00000520214.1_Missense_Mutation_p.A1068V|ZFAT_ENST00000523399.1_Missense_Mutation_p.A1018V|ZFAT_ENST00000517307.1_5'UTR	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1080					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGCTTCTGTTGCTGTCTAAAT	0.473																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3202-3204)gCa>gTa		zinc finger and AT hook domain containing							108	112	110					8																	135524840		1925	4127	6052	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135524840G>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3239C>T	8.37:g.135524840G>A	ENSP00000367069:p.Ala1080Val					ZFAT_ENST00000377838.3_Missense_Mutation_p.A1080V|ZFAT_ENST00000523399.1_Missense_Mutation_p.A1018V|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520214.1_Missense_Mutation_p.A1068V|ZFAT_ENST00000429442.2_Missense_Mutation_p.A1068V|ZFAT_ENST00000520356.1_Intron	p.A1068V	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		15	3502	-	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)		1080					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.3203C>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613738	0.46631	.	.	ENSG00000066827	ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T	0.09350	3.0;3.01;2.99;3.0;3.01	4.8	4.8	0.61643	.	0.600840	0.17789	N	0.161941	T	0.06142	0.0159	N	0.12182	0.205	0.26180	N	0.979743	P;B;B	0.35077	0.483;0.003;0.003	B;B;B	0.27887	0.084;0.006;0.004	T	0.34378	-0.9831	10	0.19590	T	0.45	-2.912	15.5236	0.75885	0.0:0.0:1.0:0.0	.	199;1018;1080	B7Z741;E9PER3;Q9P243	.;.;ZFAT_HUMAN	V	1068;1068;1080;1068;967;1018	ENSP00000427831:A1068V;ENSP00000394501:A1068V;ENSP00000367069:A1080V;ENSP00000428483:A1068V;ENSP00000429091:A1018V	ENSP00000326997:A967V	A	-	2	0	ZFAT	135594022	0.966000	0.33281	0.998000	0.56505	0.981000	0.71138	2.556000	0.45862	2.648000	0.89879	0.563000	0.77884	GCA		0.473	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		6	99	0	0	0	1	0	6	99					A	135524840	G	A	135524840	3	1	475	1	0	0	0	0	1	0	0	0	17629	1319	46	3	504	3	ZFAT	8	135524840	Missense_Mutation	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08	3698382	135524840	10839182	14	31904											
PAX5	5079	broad.mit.edu	37	chr9	37015117	37015117	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatattcagcgattttttccAccactttgggtgtggcgacc	7	15	9	10	2	1	0	1	0	0	0	2	2	2	0	3	2	1	0	3	2	2	7			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr9:37015117A>G	ENST00000358127.4	-	3	361	c.287T>C	c.(286-288)gTg>gCg	p.V96A	PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000377847.2_Missense_Mutation_p.V96A|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377852.2_Missense_Mutation_p.V96A|PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000520154.1_Missense_Mutation_p.V96A|PAX5_ENST00000520281.1_Missense_Mutation_p.V96A|PAX5_ENST00000523241.1_Missense_Mutation_p.V96A|PAX5_ENST00000377853.2_Missense_Mutation_p.V96A|PAX5_ENST00000414447.1_Missense_Mutation_p.V96A	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	96	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GATTTTTTCCACCACTTTGGG	0.502			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"T, Mis, D, F, S"	paired box gene 5 (B-cell lineage specific activator protein)			L	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"		"NHL, ALL, B-ALL"	PAX5/JAK2(18)	42	Unknown(42)	p.?(42)	haematopoietic_and_lymphoid_tissue(42)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(286-288)gTg>gCg		paired box 5							259	254	256					9																	37015117		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37015117A>G		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"Paired boxes", "Homeoboxes / PRD class"	8619	protein-coding gene	gene with protein product	"B-cell lineage specific activator"	167414	"paired box gene 5 (B-cell lineage specific activator protein)", "paired box gene 5 (B-cell lineage specific activator)"			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.287T>C	9.37:g.37015117A>G	ENSP00000350844:p.Val96Ala					PAX5_ENST00000523241.1_Missense_Mutation_p.V96A|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.V96A|PAX5_ENST00000520281.1_Missense_Mutation_p.V96A|PAX5_ENST00000414447.1_Missense_Mutation_p.V96A|PAX5_ENST00000377847.2_Missense_Mutation_p.V96A|PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000520154.1_Missense_Mutation_p.V96A|PAX5_ENST00000377852.2_Missense_Mutation_p.V96A	p.V96A	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	3	361	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	96			Paired.		A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.287T>C	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.823914	0.90873	.	.	ENSG00000196092	ENST00000358127;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D	0.99382	-5.8;-5.8;-5.8;-5.8;-5.8;-5.8;-5.8;-5.8	5.68	5.68	0.88126	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.135690	0.48767	D	0.000178	D	0.99513	0.9826	M	0.91300	3.195	0.80722	D	1	P;D;P;D;D;P;P;P	0.89917	0.955;0.998;0.955;1.0;0.997;0.955;0.955;0.955	D;D;D;D;D;D;D;D	0.81914	0.965;0.995;0.965;0.995;0.992;0.965;0.965;0.965	D	0.98438	1.0585	10	0.56958	D	0.05	.	15.9657	0.79968	1.0:0.0:0.0:0.0	.	96;96;96;96;96;96;96;96	C0KTF8;C0KTF7;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;PAX5_HUMAN	A	96	ENSP00000350844:V96A;ENSP00000367084:V96A;ENSP00000367083:V96A;ENSP00000429637:V96A;ENSP00000429291:V96A;ENSP00000430773:V96A;ENSP00000412188:V96A;ENSP00000367078:V96A	ENSP00000350844:V96A	V	-	2	0	PAX5	37005117	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.339000	0.96797	2.172000	0.68678	0.529000	0.55759	GTG		0.502	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			30	202	0	0	0	1	0	30	202					G	37015117	A	G	37015117	3	3	475	1	0	0	0	0	1	0	0	0	11482	159	6	4	920	4	PAX5	9	37015117	Missense_Mutation	SNP	A	TCGA-ZG-A8QW-01A-11D-A377-08		37015117	104198314	15	31905											
HSPA14	51182	broad.mit.edu	37	chr10	14909224	14909224	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatagaagcaggaattcttaTtgggaaagaaaacctgttgg	15	11	11	4	0	1	2	0	0	1	2	1	4	1	4	1	3	2	2	1	3	8	6			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr10:14909224T>C	ENST00000378372.3	+	11	1375	c.1136T>C	c.(1135-1137)aTt>aCt	p.I379T		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	379					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						GGAATTCTTATTGGGAAAGAA	0.383																																						ENST00000378372.3																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						c.(1135-1137)aTt>aCt		heat shock 70kDa protein 14							107	108	108					10																	14909224		2203	4300	6503	SO:0001583	missense	51182				'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	g.chr10:14909224T>C	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"Heat shock proteins / HSP70"	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.1136T>C	10.37:g.14909224T>C	ENSP00000367623:p.Ile379Thr						p.I379T	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN			11	1375	+			379					A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	ENST00000378372.3	37	c.1136T>C	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	T	7.978	0.750479	0.15778	.	.	ENSG00000187522	ENST00000378372	T	0.00902	5.56	5.8	2.21	0.28008	.	0.427481	0.27240	N	0.020271	T	0.00384	0.0012	N	0.00885	-1.115	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48747	-0.9008	10	0.02654	T	1	-11.1193	9.7772	0.40626	0.0:0.1954:0.0:0.8046	.	379	Q0VDF9	HSP7E_HUMAN	T	379	ENSP00000367623:I379T	ENSP00000367623:I379T	I	+	2	0	HSPA14	14949230	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	2.222000	0.42926	0.123000	0.18342	-0.274000	0.10170	ATT		0.383	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		10	106	0	0	0	1	0	10	106					C	14909224	T	C	14909224	3	2	475	1	0	0	0	0	1	0	0	0	7407	1493	52	4	1178	4	HSPA14	10	14909224	Missense_Mutation	SNP	T	TCGA-ZG-A8QW-01A-11D-A377-08		14909224	120625523	16	31906											
NDST2	8509	broad.mit.edu	37	chr10	75567743	75567743	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcataaatgaccaagacaTagcggccatgggtattatca	14	10	8	9	1	2	2	2	1	1	1	3	2	2	2	2	2	1	1	2	2	6	4			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr10:75567743T>C	ENST00000309979.6	-	3	960	c.404A>G	c.(403-405)tAt>tGt	p.Y135C	RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.Y135C|NDST2_ENST00000398701.2_5'Flank|NDST2_ENST00000299641.4_Missense_Mutation_p.Y12C			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	135	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			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)					GACCAAGACATAGCGGCCATG	0.522																																						ENST00000299641.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(34-36)tAt>tGt		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2							111	107	108					10																	75567743		2203	4300	6503	SO:0001583	missense	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75567743T>C	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.404A>G	10.37:g.75567743T>C	ENSP00000310657:p.Tyr135Cys					NDST2_ENST00000309979.6_Missense_Mutation_p.Y135C	p.Y12C	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN			4	1005	-	Prostate(51;0.0112)		135					Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.35A>G	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968066	0.53614	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.56275	0.71;0.47	5.67	4.52	0.55395	.	0.055766	0.85682	D	0.000000	T	0.72574	0.3477	M	0.84082	2.675	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72075	0.974;0.976	T	0.75972	-0.3129	10	0.87932	D	0	.	12.075	0.53638	0.1291:0.0:0.0:0.8709	.	12;135	B4E139;P52849	.;NDST2_HUMAN	C	135;12	ENSP00000310657:Y135C;ENSP00000299641:Y12C	ENSP00000299641:Y12C	Y	-	2	0	NDST2	75237749	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.394000	0.52551	0.954000	0.37851	0.459000	0.35465	TAT		0.522	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		11	62	0	0	0	1	0	11	62					C	75567743	T	C	75567743	3	2	475	1	0	0	0	0	1	0	0	0	10256	1406	49	4	2299	4	NDST2	10	75567743	Missense_Mutation	SNP	T	TCGA-ZG-A8QW-01A-11D-A377-08	60658519	75567743	59967004	17	31907											
PRMT3	10196	broad.mit.edu	37	chr11	20515515	20515515	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagaagaattgccacaacagGgtaagtatcatgaattatct	16	10	9	6	0	2	3	1	1	1	2	2	4	2	3	1	1	2	2	1	1	7	4			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr11:20515515G>T	ENST00000331079.6	+	14	1615	c.1398G>T	c.(1396-1398)agG>agT	p.R466S	PRMT3_ENST00000437750.2_Splice_Site_p.R404S	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	466	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GCCACAACAGGGTAAGTATCA	0.279																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.e14+1		protein arginine methyltransferase 3							35	40	38					11																	20515515		2183	4286	6469	SO:0001630	splice_region_variant	10196						zinc ion binding	g.chr11:20515515G>T	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"Protein arginine methyltransferases"	30163	protein-coding gene	gene with protein product		603190	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.1398+1G>T	11.37:g.20515515G>T						PRMT3_ENST00000437750.2_Splice_Site_p.R404_splice	p.R466_splice	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN			14	1615	+			466					B4DUC7	Splice_Site	SNP	ENST00000331079.6	37	c.1398_splice	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	5.336	0.247237	0.10130	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.80909	-1.43;-1.43	5.52	0.888	0.19206	.	0.356432	0.39341	N	0.001389	T	0.68860	0.3047	L	0.45698	1.435	0.30498	N	0.770709	B;B	0.06786	0.001;0.001	B;B	0.10450	0.004;0.005	T	0.57556	-0.7791	10	0.22706	T	0.39	-4.5633	7.1895	0.25818	0.2813:0.0:0.5981:0.1206	.	404;466	O60678-2;O60678	.;ANM3_HUMAN	S	466;466;404	ENSP00000331879:R466S;ENSP00000397766:R404S	ENSP00000331879:R466S	R	+	3	2	PRMT3	20472091	0.989000	0.36119	0.970000	0.41538	0.984000	0.73092	0.713000	0.25794	0.274000	0.22072	0.591000	0.81541	AGG		0.279	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788	Missense_Mutation	16	111	1	0	1.99824e-07	1	2.03902e-07	16	111					T	20515515	G	T	20515515	5	4	475	1	0	0	0	0	0	0	1	0	12538	1246	43	5	1452	5	PRMT3	11	20515515	Splice_Site	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08		20515515	114491001	18	31908											
FIBP	9158	broad.mit.edu	37	chr11	65655848	65655848	+	Frame_Shift_Del	DEL	A	A	-																															cgatacacgtcctcgtcgatAagggtcgtgttccccacgaa																										TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr11:65655848delA	ENST00000338369.2	-	1	154	c.42delT	c.(40-42)cttfs	p.L14fs	FIBP_ENST00000533045.1_Frame_Shift_Del_p.L14fs|CCDC85B_ENST00000312579.2_5'Flank|FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000357519.4_Frame_Shift_Del_p.L14fs	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	14					fibroblast growth factor receptor signaling pathway (GO:0008543)|platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		CCTCGTCGATAAGGGTCGTGT	0.662											OREG0021090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338369.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(40-42)ctfs		fibroblast growth factor (acidic) intracellular binding protein							47	33	38					11																	65655848		2192	4262	6454	SO:0001589	frameshift_variant	9158				fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding	g.chr11:65655848delA	AF010187	CCDS8118.1, CCDS8119.1	11q13.1	2006-06-15			ENSG00000172500	ENSG00000172500			3705	protein-coding gene	gene with protein product		608296				9806903	Standard	NM_004214		Approved	FGFIBP	uc001ogd.3	O43427	OTTHUMG00000166846	ENST00000338369.2:c.42delT	11.37:g.65655848delA	ENSP00000344572:p.Leu14fs		OREG0021090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085	FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000357519.4_Frame_Shift_Del_p.L14fs|FIBP_ENST00000533045.1_Frame_Shift_Del_p.L14fs	p.L14fs	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	1	154	-			14					A8K0J7|Q27Q85|Q6IBQ3|Q9HD65	Frame_Shift_Del	DEL	ENST00000338369.2	37	c.42delT	CCDS8119.1																																																																																				0.662	FIBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000391575.2	NM_198897		2	4						2	4	---	---	---	---	-	65655848	A	-	65655848	7	5	475	1	0	1	0	1	0	0	0	0	5886	349	13	0	1092	0	FIBP	11	65655848	Frame_Shift_Del	DEL	A	TCGA-ZG-A8QW-01A-11D-A377-08	45140333	65655848	69350668	19	31909											
GRIA4	2893	broad.mit.edu	37	chr11	105797470	105797470	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attttatccatgtttagatcCctctcaggtcgaattgttgg	8	17	8	8	1	1	1	1	0	1	1	5	2	3	1	2	2	0	2	2	2	3	6			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr11:105797470C>T	ENST00000530497.1	+	12	1851	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S	GRIA4_ENST00000393127.2_Silent_p.S617S|GRIA4_ENST00000282499.5_Silent_p.S617S|GRIA4_ENST00000525187.1_Silent_p.S617S			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	617					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			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)		tgtttagaTCCCTCTCAGGTC	0.363																																						ENST00000393127.2																			0				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						c.(1849-1851)tcC>tcT		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						118	118	118					11																	105797470		2202	4298	6500	SO:0001819	synonymous_variant	0				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	g.chr11:105797470C>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1851C>T	11.37:g.105797470C>T						GRIA4_ENST00000282499.5_Silent_p.S617S|GRIA4_ENST00000525187.1_Silent_p.S617S|GRIA4_ENST00000530497.1_Silent_p.S617S	p.S617S	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	13	2297	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	617					Q86XE8	Silent	SNP	ENST00000530497.1	37	c.1851C>T	CCDS8333.1																																																																																				0.363	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			8	109	0	0	0	1	0	8	109					T	105797470	C	T	105797470	2	4	475	1	0	0	0	0	0	0	0	1	6770	610	22	3		3	GRIA4	11	105797470	Silent	SNP	C	TCGA-ZG-A8QW-01A-11D-A377-08	40141622	105797470	29209046	20	31910											
PIK3C2G	5288	broad.mit.edu	37	chr12	18439843	18439843	+	Frame_Shift_Del	DEL	T	T	-																															agcaatacgagtctggcctcTttttgcaacaaagtaaaaaa																										TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr12:18439843delT	ENST00000266497.5	+	2	779	c.741delT	c.(739-741)tctfs	p.S247fs	PIK3C2G_ENST00000536967.1_3'UTR|PIK3C2G_ENST00000538779.1_Frame_Shift_Del_p.S247fs|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000433979.1_Frame_Shift_Del_p.S247fs|PIK3C2G_ENST00000535651.1_Frame_Shift_Del_p.S247fs			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	247					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			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)				GTCTGGCCTCTTTTTGCAACA	0.308																																						ENST00000433979.1																			0				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						c.(739-741)tcfs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							40	39	39					12																	18439843		1804	4064	5868	SO:0001589	frameshift_variant	5288				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	g.chr12:18439843delT	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.741delT	12.37:g.18439843delT	ENSP00000266497:p.Ser247fs					PIK3C2G_ENST00000536967.1_3'UTR|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000266497.5_Frame_Shift_Del_p.S247fs|PIK3C2G_ENST00000535651.1_Frame_Shift_Del_p.S247fs|PIK3C2G_ENST00000538779.1_Frame_Shift_Del_p.S247fs	p.S247fs	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			3	857	+		Hepatocellular(102;0.194)	247					A1L3U0	Frame_Shift_Del	DEL	ENST00000266497.5	37	c.741delT	CCDS44839.1																																																																																				0.308	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		2	4						2	4	---	---	---	---	-	18439843	T	-	18439843	7	5	475	1	0	1	0	1	0	0	0	0	11911	1596	56	0	747	0	PIK3C2G	12	18439843	Frame_Shift_Del	DEL	T	TCGA-ZG-A8QW-01A-11D-A377-08		18439843	115412052	21	31911											
KCNJ8	3764	broad.mit.edu	37	chr12	21919125	21919125	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgcgcttgtcaatcacGtggcagatgatcaaaggggc	10	8	14	9	2	3	2	3	1	0	1	3	3	3	3	0	4	1	2	0	4	2	1			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr12:21919125G>A	ENST00000240662.2	-	3	1152	c.807C>T	c.(805-807)caC>caT	p.H269H	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	269					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	TGTCAATCACGTGGCAGATGA	0.478																																						ENST00000240662.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(805-807)caC>caT		potassium inwardly-rectifying channel, subfamily J, member 8	Levosimendan(DB00922)						78	71	73					12																	21919125		2203	4300	6503	SO:0001819	synonymous_variant	3764					voltage-gated potassium channel complex		g.chr12:21919125G>A	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.807C>T	12.37:g.21919125G>A						RP11-59N23.1_ENST00000542489.1_RNA	p.H269H	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN			3	1152	-			269					O00657	Silent	SNP	ENST00000240662.2	37	c.807C>T	CCDS8692.1																																																																																				0.478	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		12	48	0	0	0	1	0	12	48					A	21919125	G	A	21919125	2	1	475	1	0	0	0	0	0	0	0	1	8056	1136	40	1		1	KCNJ8	12	21919125	Silent	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08	3479282	21919125	111932770	22	31912											
SLC6A15	55117	broad.mit.edu	37	chr12	85270287	85270287	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtacataccttaggggtaaAcatgtggcgaatgccatcaa	13	9	11	8	1	1	0	1	0	0	0	1	1	1	0	2	4	4	2	2	4	7	4			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr12:85270287A>G	ENST00000266682.5	-	6	1397	c.856T>C	c.(856-858)Ttt>Ctt	p.F286L	SLC6A15_ENST00000552192.1_Missense_Mutation_p.F179L|SLC6A15_ENST00000551388.1_5'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	286					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTAGGGGTAAACATGTGGCGA	0.299																																						ENST00000266682.5																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(856-858)Ttt>Ctt		solute carrier family 6 (neutral amino acid transporter), member 15							78	77	78					12																	85270287		2203	4296	6499	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85270287A>G	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.856T>C	12.37:g.85270287A>G	ENSP00000266682:p.Phe286Leu					SLC6A15_ENST00000551388.1_5'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.F179L	p.F286L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			6	1397	-			286					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.856T>C	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.966207	0.34659	.	.	ENSG00000072041	ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551388;ENST00000551612	T;T;T	0.68765	-0.35;-0.35;-0.35	5.97	5.97	0.96955	.	0.045701	0.85682	D	0.000000	T	0.51058	0.1652	N	0.19112	0.55	0.80722	D	1	B	0.21381	0.055	B	0.30646	0.118	T	0.46748	-0.9169	10	0.09338	T	0.73	.	12.2812	0.54765	0.9324:0.0:0.0676:0.0	.	286	Q9H2J7	S6A15_HUMAN	L	286;2;179;2;2	ENSP00000266682:F286L;ENSP00000450145:F179L;ENSP00000449263:F2L	ENSP00000266682:F286L	F	-	1	0	SLC6A15	83794418	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	7.137000	0.77295	2.281000	0.76405	0.533000	0.62120	TTT		0.299	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		5	66	0	0	0	1	0	5	66					G	85270287	A	G	85270287	3	3	475	1	0	0	0	0	1	0	0	0	14678	43	2	4	1364	4	SLC6A15	12	85270287	Missense_Mutation	SNP	A	TCGA-ZG-A8QW-01A-11D-A377-08	63351162	85270287	48581608	23	31913											
HSPH1	10808	broad.mit.edu	37	chr13	31727071	31727071	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatcgcctctcagcatcTgtaaagaaggaggggaccta	13	7	11	10	1	2	2	1	0	2	2	4	4	2	4	2	3	1	2	2	3	4	2			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr13:31727071T>G	ENST00000320027.5	-	5	791	c.447A>C	c.(445-447)acA>acC	p.T149T	HSPH1_ENST00000445273.2_Silent_p.T151T|HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000380406.5_Silent_p.T108T|HSPH1_ENST00000380405.4_Silent_p.T149T	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	149					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TCTCAGCATCTGTAAAGAAGG	0.358																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(445-447)acA>acC		heat shock 105kDa/110kDa protein 1							151	148	149					13																	31727071		2203	4299	6502	SO:0001819	synonymous_variant	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31727071T>G	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.447A>C	13.37:g.31727071T>G						HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000380405.4_Silent_p.T149T|HSPH1_ENST00000445273.2_Silent_p.T151T|HSPH1_ENST00000380406.5_Silent_p.T108T	p.T149T	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	5	791	-		Lung SC(185;0.0257)	149					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Silent	SNP	ENST00000320027.5	37	c.447A>C	CCDS9340.1																																																																																				0.358	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			53	182	0	0	0	1	0	53	182					G	31727071	T	G	31727071	2	3	475	1	0	0	0	0	0	0	0	1	7431	1567	55	5		5	HSPH1	13	31727071	Silent	SNP	T	TCGA-ZG-A8QW-01A-11D-A377-08		31727071	83442807	24	31914											
RFXAP	5994	broad.mit.edu	37	chr13	37399674	37399674	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttaaatcaaaaaagactggTaaatatctgtttgtaaatca	18	13	6	4	0	3	1	2	0	1	1	3	1	3	1	0	1	0	4	0	1	10	5			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr13:37399674T>C	ENST00000255476.2	+	2	842		c.e2+2		RFXAP_ENST00000472888.1_Splice_Site	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein						positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		AAAAGACTGGTAAATATCTGT	0.313																																						ENST00000255476.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.e2+2		regulatory factor X-associated protein							70	74	73					13																	37399674		2203	4298	6501	SO:0001630	splice_region_variant	5994					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr13:37399674T>C	Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.708+2T>C	13.37:g.37399674T>C						RFXAP_ENST00000472888.1_Splice_Site		NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN		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)	2	842	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)						B2R9T8|Q5VZM6|Q8TC40	Splice_Site	SNP	ENST00000255476.2	37		CCDS9359.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.886292	0.72410	.	.	ENSG00000133111	ENST00000255476	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7229	0.69320	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RFXAP	36297674	1.000000	0.71417	0.974000	0.42286	0.976000	0.68499	6.854000	0.75440	2.154000	0.67381	0.533000	0.62120	.		0.313	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044521.1	NM_000538	Intron	11	47	0	0	0	1	0	11	47					C	37399674	T	C	37399674	5	2	475	1	0	0	0	0	0	0	1	0	13270	1652	57	4	716	4	RFXAP	13	37399674	Splice_Site	SNP	T	TCGA-ZG-A8QW-01A-11D-A377-08	5672603	37399674	77770204	25	31915											
KDELC1	79070	broad.mit.edu	37	chr13	103445972	103445972	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttatcctttaaggtgtaGtgacataggctctgcctctg	7	16	10	8	0	2	1	0	1	2	0	3	1	3	1	2	2	1	3	2	2	4	6			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr13:103445972G>C	ENST00000376004.4	-	3	909	c.573C>G	c.(571-573)caC>caG	p.H191Q	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	191						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTAAGGTGTAGTGACATAGGC	0.368																																						ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(571-573)caC>caG		KDEL (Lys-Asp-Glu-Leu) containing 1							134	128	130					13																	103445972		2203	4300	6503	SO:0001583	missense	79070					endoplasmic reticulum lumen		g.chr13:103445972G>C	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.573C>G	13.37:g.103445972G>C	ENSP00000365172:p.His191Gln					KDELC1_ENST00000460338.1_5'UTR	p.H191Q	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN			3	909	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		191					Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	c.573C>G	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611364	0.46631	.	.	ENSG00000134901	ENST00000376004	T	0.23348	1.91	5.7	1.84	0.25277	.	0.000000	0.85682	D	0.000000	T	0.53238	0.1784	M	0.90019	3.08	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.55958	-0.8058	10	0.72032	D	0.01	.	9.3259	0.37993	0.5209:0.0:0.4791:0.0	.	191	Q6UW63	KDEL1_HUMAN	Q	191	ENSP00000365172:H191Q	ENSP00000365172:H191Q	H	-	3	2	KDELC1	102243973	1.000000	0.71417	0.997000	0.53966	0.526000	0.34562	1.274000	0.33132	0.269000	0.21961	-0.258000	0.10820	CAC		0.368	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			24	105	0	0	0	1	0	24	105					C	103445972	G	C	103445972	3	2	475	1	0	0	0	0	1	0	0	0	8117	1020	36	5	967	5	KDELC1	13	103445972	Missense_Mutation	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08	66046298	103445972	11723906	26	31916											
CUL4A	8451	broad.mit.edu	37	chr13	113899533	113899533	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggagctttcgaaggacatCatggttcatttcaagcaggt	11	12	11	7	1	3	0	3	0	0	0	4	3	3	2	0	4	2	3	0	4	2	3	rs141571594		TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr13:113899533C>T	ENST00000375440.4	+	14	1596	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	CUL4A_ENST00000375441.3_Silent_p.I404I|CUL4A_ENST00000451881.1_Silent_p.I404I|CUL4A_ENST00000326335.4_Silent_p.I404I	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	504					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CGAAGGACATCATGGTTCATT	0.488																																						ENST00000451881.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17						c.(1210-1212)atC>atT		cullin 4A							134	116	122					13																	113899533		2203	4300	6503	SO:0001819	synonymous_variant	8451				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	g.chr13:113899533C>T	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1512C>T	13.37:g.113899533C>T						CUL4A_ENST00000375440.4_Silent_p.I504I|CUL4A_ENST00000326335.4_Silent_p.I404I|CUL4A_ENST00000375441.3_Silent_p.I404I	p.I404I	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		14	1461	+	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)	504					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	ENST00000375440.4	37	c.1212C>T	CCDS41908.1																																																																																				0.488	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		3	54	0	0	0	1	0	3	54					T	113899533	C	T	113899533	2	4	475	1	0	0	0	0	0	0	0	1	4057	816	29	3		3	CUL4A	13	113899533	Silent	SNP	C	TCGA-ZG-A8QW-01A-11D-A377-08	10453561	113899533	1270345	27	31917											
KIAA1409	57578	broad.mit.edu	37	chr14	94053216	94053216	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagaaaagatcaccctcaAtttttagcctacattcagga	14	10	6	11	0	3	2	3	0	0	2	3	3	3	3	3	1	2	0	3	1	5	5			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr14:94053216A>T	ENST00000393151.2	+	22	2994	c.2994A>T	c.(2992-2994)caA>caT	p.Q998H	UNC79_ENST00000256339.4_Missense_Mutation_p.Q821H|UNC79_ENST00000553484.1_Missense_Mutation_p.Q998H|UNC79_ENST00000555664.1_Missense_Mutation_p.Q998H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	998					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATCACCCTCAATTTTTAGCCT	0.353																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(2992-2994)caA>caT		unc-79 homolog (C. elegans)							178	168	171					14																	94053216		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94053216A>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2994A>T	14.37:g.94053216A>T	ENSP00000376858:p.Gln998His					UNC79_ENST00000555664.1_Missense_Mutation_p.Q998H|UNC79_ENST00000393151.2_Missense_Mutation_p.Q998H|UNC79_ENST00000256339.4_Missense_Mutation_p.Q821H	p.Q998H			Q9P2D8	UNC79_HUMAN			22	3148	+			998					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.2994A>T		.	.	.	.	.	.	.	.	.	.	A	16.94	3.260731	0.59431	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.94	2.33	0.28932	.	0.233082	0.37955	N	0.001862	T	0.19327	0.0464	N	0.08118	0	0.31131	N	0.707758	P	0.48016	0.904	P	0.47981	0.563	T	0.11036	-1.0604	10	0.62326	D	0.03	-14.9349	7.9477	0.29995	0.5901:0.0:0.4099:0.0	.	998	C9JQL1	.	H	821;998;998;998;998	ENSP00000256339:Q821H;ENSP00000450868:Q998H;ENSP00000451360:Q998H;ENSP00000376858:Q998H	ENSP00000256339:Q821H	Q	+	3	2	KIAA1409	93122969	0.952000	0.32445	1.000000	0.80357	0.976000	0.68499	0.049000	0.14099	0.508000	0.28173	-0.256000	0.11100	CAA		0.353	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		33	141	0	0	0	1	0	33	141					T	94053216	A	T	94053216	3	4	475	1	0	0	0	0	1	0	0	0	8230	98	4	5	2537	5	KIAA1409	14	94053216	Missense_Mutation	SNP	A	TCGA-ZG-A8QW-01A-11D-A377-08		94053216	13296324	28	31918											
ZNF839	55778	broad.mit.edu	37	chr14	102793195	102793195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggggcccgctcctgcttgGtgacagagtcagcacgcggt	6	7	16	12	3	1	2	1	1	0	1	2	3	2	2	2	4	2	3	2	4	0	1			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr14:102793195G>A	ENST00000558850.1	+	2	1164	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	ZNF839_ENST00000262236.5_Missense_Mutation_p.V272M|ZNF839_ENST00000559185.1_Missense_Mutation_p.V272M|ZNF839_ENST00000442396.2_Missense_Mutation_p.V388M	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	272							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CTCCTGCTTGGTGACAGAGTC	0.577																																						ENST00000262236.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(814-816)Gtg>Atg		zinc finger protein 839							18	20	19					14																	102793195		2016	4154	6170	SO:0001583	missense	55778					intracellular	zinc ion binding	g.chr14:102793195G>A	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.814G>A	14.37:g.102793195G>A	ENSP00000453363:p.Val272Met					ZNF839_ENST00000559185.1_Missense_Mutation_p.V272M|ZNF839_ENST00000558850.1_Missense_Mutation_p.V272M|ZNF839_ENST00000442396.2_Missense_Mutation_p.V388M	p.V272M	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN			2	1169	+			272					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.814G>A	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	G	8.158	0.788787	0.16258	.	.	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436	T;T	0.42513	0.97;0.97	1.73	1.73	0.24493	.	.	.	.	.	T	0.22513	0.0543	N	0.19112	0.55	0.09310	N	1	P;P;P;P	0.49253	0.921;0.706;0.921;0.921	B;B;B;B	0.36534	0.227;0.094;0.153;0.153	T	0.06972	-1.0797	9	0.41790	T	0.15	.	7.3658	0.26772	0.0:0.0:1.0:0.0	.	388;272;151;272	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	M	388;272;15	ENSP00000399863:V388M;ENSP00000262236:V272M	ENSP00000262236:V272M	V	+	1	0	ZNF839	101862948	0.005000	0.15991	0.001000	0.08648	0.002000	0.02628	1.678000	0.37586	0.867000	0.35654	0.655000	0.94253	GTG		0.577	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		4	14	0	0	0	1	0	4	14					A	102793195	G	A	102793195	3	1	475	1	0	0	0	0	1	0	0	0	18185	1261	44	3	1168	3	ZNF839	14	102793195	Missense_Mutation	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08	8739979	102793195	4556345	29	31919											
C15orf2	23742	broad.mit.edu	37	chr15	24923886	24923886	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catatactgcattgggcacaCctgttaatgctgagccagtc	10	11	9	11	0	0	1	0	1	0	0	1	1	0	1	2	1	4	4	2	1	3	4			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr15:24923886C>A	ENST00000329468.2	+	1	3346	c.2872C>A	c.(2872-2874)Cct>Act	p.P958T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	958					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											ATTGGGCACACCTGTTAATGC	0.483																																						ENST00000329468.2																			0											c.(2872-2874)Cct>Act		nuclear pore associated protein 1							75	76	76					15																	24923886		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24923886C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2872C>A	15.37:g.24923886C>A	ENSP00000333735:p.Pro958Thr						p.P958T	NM_018958.2	NP_061831.2					1	3346	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.2872C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.319478	0.00232	.	.	ENSG00000185823	ENST00000329468	T	0.07567	3.18	1.74	-0.812	0.10853	.	0.637195	0.13080	N	0.415389	T	0.05044	0.0135	L	0.29908	0.895	0.09310	N	1	B	0.19817	0.039	B	0.08055	0.003	T	0.35968	-0.9767	10	0.44086	T	0.13	.	3.0704	0.06229	0.3618:0.4021:0.2361:0.0	.	958	Q9NZP6	CO002_HUMAN	T	958	ENSP00000333735:P958T	ENSP00000333735:P958T	P	+	1	0	C15orf2	22474979	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	0.009000	0.13219	-0.202000	0.10268	0.313000	0.20887	CCT		0.483	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		15	92	1	0	4.14922e-12	1	4.51002e-12	15	92					A	24923886	C	A	24923886	3	1	475	1	0	0	0	0	1	0	0	0	1784	507	18	5	2874	5	C15orf2	15	24923886	Missense_Mutation	SNP	C	TCGA-ZG-A8QW-01A-11D-A377-08		24923886	77607506	30	31920											
WDR72	256764	broad.mit.edu	37	chr15	53907788	53907788	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagtggctgtgtatttaTctgacaagtccaaaactttc	12	13	9	7	0	1	2	0	1	1	1	3	3	2	2	1	1	1	2	1	1	6	4			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr15:53907788T>C	ENST00000396328.1	-	15	2854	c.2615A>G	c.(2614-2616)gAt>gGt	p.D872G	WDR72_ENST00000559418.1_Missense_Mutation_p.D882G|WDR72_ENST00000557913.1_Missense_Mutation_p.D869G|WDR72_ENST00000360509.5_Missense_Mutation_p.D872G	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	872										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)		TGTGTATTTATCTGACAAGTC	0.353																																						ENST00000396328.1																			0				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						c.(2614-2616)gAt>gGt		WD repeat domain 72							53	54	54					15																	53907788		2193	4291	6484	SO:0001583	missense	256764							g.chr15:53907788T>C	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2615A>G	15.37:g.53907788T>C	ENSP00000379619:p.Asp872Gly					WDR72_ENST00000559418.1_Missense_Mutation_p.D882G|WDR72_ENST00000360509.5_Missense_Mutation_p.D872G|WDR72_ENST00000557913.1_Missense_Mutation_p.D869G	p.D872G	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2854	-			872					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2615A>G	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.584570	0.28268	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.34667	1.35;1.35	5.72	-0.933	0.10431	.	0.506080	0.20811	N	0.085245	T	0.16300	0.0392	N	0.14661	0.345	0.20638	N	0.999872	B	0.06786	0.001	B	0.06405	0.002	T	0.13124	-1.0521	10	0.28530	T	0.3	.	5.5077	0.16864	0.0:0.2663:0.2468:0.4869	.	872	Q3MJ13	WDR72_HUMAN	G	872	ENSP00000379619:D872G;ENSP00000353699:D872G	ENSP00000353699:D872G	D	-	2	0	WDR72	51695080	0.975000	0.34042	0.392000	0.26245	0.744000	0.42396	0.146000	0.16180	-0.420000	0.07427	-0.256000	0.11100	GAT		0.353	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		4	90	0	0	0	1	0	4	90					C	53907788	T	C	53907788	3	2	475	1	0	0	0	0	1	0	0	0	17319	1435	50	4	717	4	WDR72	15	53907788	Missense_Mutation	SNP	T	TCGA-ZG-A8QW-01A-11D-A377-08	28983902	53907788	48623604	31	31921											
RASL12	51285	broad.mit.edu	37	chr15	65347485	65347485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctcttctccagctcccGccgtgcctctcgcactgcct	2	10	10	19	3	3	0	0	0	3	0	6	0	4	0	5	2	3	3	5	2	0	1	rs148588039	byFrequency	TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr15:65347485G>A	ENST00000220062.4	-	5	829	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	RASL12_ENST00000434605.2_Missense_Mutation_p.R174W|RASL12_ENST00000421977.3_Missense_Mutation_p.R166W	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	185					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TCCAGCTCCCGCCGTGCCTCT	0.662																																						ENST00000220062.4																			0				lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						c.(553-555)Cgg>Tgg		RAS-like, family 12							20	18	18					15																	65347485		2201	4293	6494	SO:0001583	missense	51285				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr15:65347485G>A	AF233588	CCDS10200.1	15q11.2-q22.33	2014-05-09			ENSG00000103710	ENSG00000103710			30289	protein-coding gene	gene with protein product	"Ras family member Ris"					12107412	Standard	NM_016563		Approved	RIS	uc002aoi.1	Q9NYN1	OTTHUMG00000133115	ENST00000220062.4:c.553C>T	15.37:g.65347485G>A	ENSP00000220062:p.Arg185Trp					RASL12_ENST00000421977.3_Missense_Mutation_p.R166W|RASL12_ENST00000434605.2_Missense_Mutation_p.R174W	p.R185W	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN			5	829	-			185					B2RC29|B4DJW2|B4DU82	Missense_Mutation	SNP	ENST00000220062.4	37	c.553C>T	CCDS10200.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967777	0.53507	.	.	ENSG00000103710	ENST00000220062;ENST00000421977;ENST00000434605	T;T;T	0.80214	-1.35;-1.35;-1.35	5.38	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.82591	0.5070	M	0.92507	3.315	0.48830	D	0.999717	P;P;P	0.40619	0.724;0.622;0.622	B;B;B	0.31751	0.135;0.052;0.052	D	0.87541	0.2459	10	0.87932	D	0	.	14.1547	0.65410	0.0:0.0:0.8185:0.1815	.	174;166;185	B4DU82;B4DJW2;Q9NYN1	.;.;RASLC_HUMAN	W	185;166;174	ENSP00000220062:R185W;ENSP00000390028:R166W;ENSP00000412787:R174W	ENSP00000220062:R185W	R	-	1	2	RASL12	63134538	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.547000	0.36190	2.526000	0.85167	0.505000	0.49811	CGG		0.662	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256782.2	NM_016563		3	16	0	0	0	1	0	3	16					A	65347485	G	A	65347485	3	1	475	1	0	0	0	0	1	0	0	0	13083	1086	38	1	251	1	RASL12	15	65347485	Missense_Mutation	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08	11439697	65347485	37183907	32	31922											
TPSAB1	7177	broad.mit.edu	37	chr16	1291297	1291297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctcatccacccccagtggGtgctgaccgcagcgcactgc	6	6	10	19	2	1	1	1	1	0	0	2	1	2	1	5	1	3	3	5	1	0	0			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr16:1291297G>T	ENST00000338844.3	+	3	238	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L	TPSAB1_ENST00000461509.2_Missense_Mutation_p.V76L	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	69	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CCCCCAGTGGGTGCTGACCGC	0.706																																						ENST00000461509.2																			0				NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10						c.(226-228)Gtg>Ttg		tryptase alpha/beta 1							45	44	44					16																	1291297		2198	4296	6494	SO:0001583	missense	7177				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	g.chr16:1291297G>T	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.205G>T	16.37:g.1291297G>T	ENSP00000343577:p.Val69Leu					TPSAB1_ENST00000338844.3_Missense_Mutation_p.V69L	p.V76L			P20231	TRYB2_HUMAN			2	420	+		Hepatocellular(780;0.00369)	69			Peptidase S1.		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	ENST00000338844.3	37	c.226G>T	CCDS10431.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064697	0.55432	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.89617	-2.54;-2.54	3.9	3.9	0.45041	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.162254	0.28908	N	0.013742	D	0.90048	0.6892	L	0.55103	1.725	0.48830	D	0.999715	D;D	0.54601	0.959;0.967	P;P	0.58454	0.752;0.839	D	0.89930	0.4065	10	0.87932	D	0	.	7.8613	0.29511	0.1179:0.0:0.8821:0.0	.	69;69	Q15661-2;Q15661	.;TRYB1_HUMAN	L	69;76	ENSP00000343577:V69L;ENSP00000418247:V76L	ENSP00000343577:V69L	V	+	1	0	TPSAB1	1231298	0.995000	0.38212	1.000000	0.80357	0.892000	0.51952	0.384000	0.20668	1.905000	0.55150	0.479000	0.44913	GTG		0.706	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		8	65	1	0	1.08611e-07	1	1.13136e-07	8	65					T	1291297	G	T	1291297	3	4	475	1	0	0	0	0	1	0	0	0	16420	1261	44	5	211	5	TPSAB1	16	1291297	Missense_Mutation	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08		1291297	89063456	33	31923											
GLYR1	84656	broad.mit.edu	37	chr16	4873833	4873833	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctccttacctcgcttgcggTtggctgccatttaaacgcgg	5	12	11	13	4	0	0	0	0	0	0	2	0	1	0	3	3	4	4	3	3	3	5			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr16:4873833T>C	ENST00000321919.9	-	6	689	c.613A>G	c.(613-615)Acc>Gcc	p.T205A	GLYR1_ENST00000591451.1_Missense_Mutation_p.T205A|GLYR1_ENST00000381983.3_Missense_Mutation_p.T205A|GLYR1_ENST00000436648.5_Missense_Mutation_p.T124A|GLYR1_ENST00000586901.1_5'UTR	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	205					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCGCTTGCGGTTGGCTGCCAT	0.532																																						ENST00000321919.9																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(613-615)Acc>Gcc		glyoxylate reductase 1 homolog (Arabidopsis)							152	148	149					16																	4873833		2197	4300	6497	SO:0001583	missense	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4873833T>C	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"nuclear protein 60kDa"	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.613A>G	16.37:g.4873833T>C	ENSP00000322716:p.Thr205Ala					GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000381983.3_Missense_Mutation_p.T205A|GLYR1_ENST00000436648.5_Missense_Mutation_p.T124A|GLYR1_ENST00000591451.1_Missense_Mutation_p.T205A	p.T205A	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN			6	689	-			205					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	c.613A>G	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	T	8.089	0.774013	0.16051	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.68479	0.0;-0.08;-0.33	5.44	5.44	0.79542	.	0.351640	0.34291	N	0.004087	T	0.38799	0.1054	N	0.08118	0	0.09310	N	1	B;B;B;B	0.10296	0.001;0.001;0.003;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.24154	-1.0168	10	0.09338	T	0.73	-7.3156	6.0439	0.19750	0.0:0.0835:0.1663:0.7502	.	124;205;205;205	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	A	205;205;124	ENSP00000322716:T205A;ENSP00000371413:T205A;ENSP00000390276:T124A	ENSP00000322716:T205A	T	-	1	0	GLYR1	4813834	0.068000	0.21057	0.105000	0.21289	0.497000	0.33675	1.556000	0.36288	2.182000	0.69389	0.482000	0.46254	ACC		0.532	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		32	125	0	0	0	1	0	32	125					C	4873833	T	C	4873833	3	2	475	1	0	0	0	0	1	0	0	0	6483	1725	60	4	1092	4	GLYR1	16	4873833	Missense_Mutation	SNP	T	TCGA-ZG-A8QW-01A-11D-A377-08	3582536	4873833	85480920	34	31924											
P2RX1	5023	broad.mit.edu	37	chr17	3806860	3806860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcacctgttgaccttgaagCgtggaaagctgatgctgttc	8	11	12	10	2	0	3	0	3	0	0	1	4	0	4	2	1	3	5	2	1	2	3	rs367615874		TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr17:3806860C>T	ENST00000225538.3	-	6	864	c.590G>A	c.(589-591)cGc>cAc	p.R197H		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	197					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			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)		GACCTTGAAGCGTGGAAAGCT	0.607																																						ENST00000225538.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13						c.(589-591)cGc>cAc		purinergic receptor P2X, ligand-gated ion channel, 1		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	81	81	81		590	5.6	1	17		81	0,8600		0,0,4300	no	missense	P2RX1	NM_002558.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	197/400	3806860	1,13005	2203	4300	6503	SO:0001583	missense	5023				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3806860C>T	X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.590G>A	17.37:g.3806860C>T	ENSP00000225538:p.Arg197His						p.R197H	NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN		LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)	6	864	-			197					Q9UK84	Missense_Mutation	SNP	ENST00000225538.3	37	c.590G>A	CCDS11040.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764344	0.89932	2.27E-4	0.0	ENSG00000108405	ENST00000225538	T	0.04406	3.63	5.56	5.56	0.83823	.	0.265230	0.37393	N	0.002101	T	0.11153	0.0272	L	0.42686	1.345	0.35927	D	0.832273	D	0.71674	0.998	P	0.56788	0.806	T	0.03296	-1.1051	10	0.59425	D	0.04	-2.7716	11.84	0.52348	0.0:0.9116:0.0:0.0884	.	197	P51575	P2RX1_HUMAN	H	197	ENSP00000225538:R197H	ENSP00000225538:R197H	R	-	2	0	P2RX1	3753609	0.920000	0.31207	1.000000	0.80357	0.994000	0.84299	0.035000	0.13797	2.608000	0.88229	0.655000	0.94253	CGC		0.607	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	NM_002558		13	50	0	0	0	1	0	13	50					T	3806860	C	T	3806860	3	4	475	1	0	0	0	0	1	0	0	0	11339	768	27	1	637	1	P2RX1	17	3806860	Missense_Mutation	SNP	C	TCGA-ZG-A8QW-01A-11D-A377-08		3806860	77388350	35	31925											
AFG3L2	10939	broad.mit.edu	37	chr18	12370900	12370900	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagctttttttccatttttTccattaggaaagtatttttc	8	22	4	7	0	0	0	0	0	0	0	3	1	2	1	2	1	1	2	2	1	4	11			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr18:12370900T>C	ENST00000269143.3	-	3	471	c.240A>G	c.(238-240)ggA>ggG	p.G80G		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	80					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TTCCATTTTTTCCATTAGGAA	0.279																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(238-240)ggA>ggG		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						64	61	62					18																	12370900		2192	4294	6486	SO:0001819	synonymous_variant	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12370900T>C	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.240A>G	18.37:g.12370900T>C							p.G80G	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			3	471	-			80					Q6P1L0	Silent	SNP	ENST00000269143.3	37	c.240A>G	CCDS11859.1																																																																																				0.279	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		4	24	0	0	0	1	0	4	24					C	12370900	T	C	12370900	2	2	475	1	0	0	0	0	0	0	0	1	360	1770	62	4		4	AFG3L2	18	12370900	Silent	SNP	T	TCGA-ZG-A8QW-01A-11D-A377-08		12370900	65706348	36	31926											
ZNF521	25925	broad.mit.edu	37	chr18	22807246	22807246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtaaggaactagaggaCagaaacccacggcgacaaat	16	4	11	10	3	0	2	0	0	0	2	0	5	0	4	2	3	2	1	2	3	5	2			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr18:22807246C>T	ENST00000361524.3	-	4	784	c.636G>A	c.(634-636)ctG>ctA	p.L212L	ZNF521_ENST00000538137.2_Silent_p.L212L|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	212					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			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)					AACTAGAGGACAGAAACCCAC	0.493			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				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						c.(634-636)ctG>ctA		zinc finger protein 521							93	85	88					18																	22807246		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807246C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.636G>A	18.37:g.22807246C>T						ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Silent_p.L212L	p.L212L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	784	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		212					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.636G>A	CCDS32806.1																																																																																				0.493	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		13	60	0	0	0	1	0	13	60					T	22807246	C	T	22807246	2	4	475	1	0	0	0	0	0	0	0	1	17962	465	17	3		3	ZNF521	18	22807246	Silent	SNP	C	TCGA-ZG-A8QW-01A-11D-A377-08	10436346	22807246	55270002	37	31927											
ARHGEF18	23370	broad.mit.edu	37	chr19	7518423	7518423	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatcatctcacaagtggaCgccaaggtcagtgagtgtga	12	9	12	8	1	3	2	3	2	1	0	4	4	3	3	1	2	0	0	1	2	3	1			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr19:7518423C>T	ENST00000359920.6	+	7	1615	c.1362C>T	c.(1360-1362)gaC>gaT	p.D454D	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.T412M|ARHGEF18_ENST00000319670.9_Silent_p.D296D	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	454	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)				CACAAGTGGACGCCAAGGTCA	0.537																																						ENST00000593531.1																			0											c.(1234-1236)aCg>aTg									124	115	118					19																	7518423		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:7518423C>T	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1362C>T	19.37:g.7518423C>T						ARHGEF18_ENST00000319670.9_Silent_p.D296D|ARHGEF18_ENST00000359920.6_Silent_p.D454D	p.T412M							10	1235	+								A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.1235C>T	CCDS45946.1																																																																																				0.537	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		6	62	0	0	0	1	0	6	62					T	7518423	C	T	7518423	2	4	475	1	0	0	0	0	0	0	0	1	901	535	19	1		1	ARHGEF18	19	7518423	Silent	SNP	C	TCGA-ZG-A8QW-01A-11D-A377-08		7518423	51610560	38	31928											
CYP4F11	57834	broad.mit.edu	37	chr19	16038092	16038092	+	De_novo_Start_OutOfFrame	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaaatggaaggcaggcGtcaacatccgacggtggcgg	10	7	16	8	4	1	1	1	1	0	0	2	3	2	2	1	6	1	2	1	6	3	1	rs145564844		TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr19:16038092G>A	ENST00000591841.1	-	0	739				CYP4F11_ENST00000402119.4_Missense_Mutation_p.T152M|CYP4F11_ENST00000248041.8_Missense_Mutation_p.T152M|CYP4F11_ENST00000326742.8_Missense_Mutation_p.T152M					cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GAAGGCAGGCGTCAACATCCG	0.552													.|||	1	0.000199681	8e-04	0	5008	,	,		20863	0		0	False		,,,				2504	0					ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(454-456)aCg>aTg		cytochrome P450, family 4, subfamily F, polypeptide 11		G	MET/THR,MET/THR	3,4403	6.2+/-15.9	0,3,2200	93	89	90		455,455	2.6	1	19	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CYP4F11	NM_001128932.1,NM_021187.3	81,81	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	possibly-damaging,possibly-damaging	152/525,152/525	16038092	4,13002	2203	4300	6503			57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16038092G>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000591841.1:c.-399C>T	19.37:g.16038092G>A						CYP4F11_ENST00000402119.3_Missense_Mutation_p.T152M|CYP4F11_ENST00000248041.7_Missense_Mutation_p.T152M	p.T152M			Q9HBI6	CP4FB_HUMAN			4	456	-			152						Missense_Mutation	SNP	ENST00000591841.1	37	c.455C>T		.	.	.	.	.	.	.	.	.	.	g	12.10	1.835308	0.32421	6.81E-4	1.16E-4	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.70631	-0.5;-0.5;-0.5	2.57	2.57	0.30868	.	0.000000	0.64402	U	0.000001	D	0.88040	0.6330	H	0.98276	4.19	0.54753	D	0.999988	D;D	0.71674	0.995;0.998	D;P	0.64687	0.928;0.906	D	0.90633	0.4568	10	0.72032	D	0.01	.	10.8988	0.47038	0.0:0.0:1.0:0.0	.	152;152	F8W978;Q9HBI6	.;CP4FB_HUMAN	M	152	ENSP00000384588:T152M;ENSP00000248041:T152M;ENSP00000319859:T152M	ENSP00000248041:T152M	T	-	2	0	CYP4F11	15899092	1.000000	0.71417	0.995000	0.50966	0.022000	0.10575	6.365000	0.73090	1.435000	0.47434	0.298000	0.19748	ACG		0.552	CYP4F11-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460384.2	NM_021187		8	92	0	0	0	1	0	8	92					A	16038092	G	A	16038092	1	1	475	1	0	1	0	0	0	0	0	0	4186	1145	40	1		1	CYP4F11	19	16038092	De_novo_Start_OutOfFrame	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08	8519669	16038092	43090891	39	31929											
FCGBP	8857	broad.mit.edu	37	chr19	40362965	40362965	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtctcctctgccaagcaCactgggcagccttggggccc	6	7	12	16	0	2	0	0	0	2	0	3	0	2	0	4	3	3	3	4	3	1	1			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr19:40362965C>A	ENST00000221347.6	-	32	15112	c.15105G>T	c.(15103-15105)gtG>gtT	p.V5035V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5035	VWFD 12. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCCAAGCACACTGGGCAGC	0.706																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(15103-15105)gtG>gtT		Fc fragment of IgG binding protein							24	29	27					19																	40362965		2203	4299	6502	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40362965C>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15105G>T	19.37:g.40362965C>A							p.V5035V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		32	15112	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5035			VWFD 12.		O95784	Silent	SNP	ENST00000221347.6	37	c.15105G>T	CCDS12546.1																																																																																				0.706	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		5	40	1	0	1.024e-07	1	1.08936e-07	5	40					A	40362965	C	A	40362965	2	1	475	1	0	0	0	0	0	0	0	1	5778	465	17	5		5	FCGBP	19	40362965	Silent	SNP	C	TCGA-ZG-A8QW-01A-11D-A377-08	24324873	40362965	18766018	40	31930											
PRKD2	25865	broad.mit.edu	37	chr19	47219514	47219514	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accccggaacccggggccggGatctggggcagtagcggtgg	6	4	19	12	4	1	0	0	0	1	0	1	2	1	2	4	8	2	2	4	8	2	1	rs577377407		TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr19:47219514G>A	ENST00000291281.4	-	1	339	c.114C>T	c.(112-114)atC>atT	p.I38I	PRKD2_ENST00000433867.1_Silent_p.I38I|PRKD2_ENST00000595515.1_Silent_p.I38I|PRKD2_ENST00000600194.1_5'Flank|PRKD2_ENST00000601806.1_5'UTR			Q9BZL6	KPCD2_HUMAN	protein kinase D2	38					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCGGGGCCGGGATCTGGGGCA	0.716																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(112-114)atC>atT		protein kinase D2							19	25	23					19																	47219514		2187	4270	6457	SO:0001819	synonymous_variant	25865				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	g.chr19:47219514G>A	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.114C>T	19.37:g.47219514G>A						PRKD2_ENST00000601806.1_5'UTR|PRKD2_ENST00000595515.1_Silent_p.I38I|PRKD2_ENST00000291281.4_Silent_p.I38I	p.I38I	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	2	591	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	38					Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.114C>T	CCDS12689.1																																																																																				0.716	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		7	61	0	0	0	1	0	7	61					A	47219514	G	A	47219514	2	1	475	1	0	0	0	0	0	0	0	1	12519	1164	41	3		3	PRKD2	19	47219514	Silent	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08	6856549	47219514	11909469	41	31931											
KCNA7	3743	broad.mit.edu	37	chr19	49573389	49573389	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagctcaggtacctccccGtccaccagccccccattggc	6	7	9	19	1	1	0	1	0	0	0	3	0	3	0	8	3	3	3	8	3	2	3	rs145070146		TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr19:49573389G>A	ENST00000221444.1	-	2	1657	c.1302C>T	c.(1300-1302)gaC>gaT	p.D434D		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	434					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	GTACCTCCCCGTCCACCAGCC	0.622																																					Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(1300-1302)gaC>gaT		potassium voltage-gated channel, shaker-related subfamily, member 7		G		0,4406		0,0,2203	75	71	72		1302	-0.8	0	19	dbSNP_134	72	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KCNA7	NM_031886.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		434/457	49573389	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49573389G>A	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.1302C>T	19.37:g.49573389G>A							p.D434D	NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	2	1657	-		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)	434					A1KYX7|Q9BYS4	Silent	SNP	ENST00000221444.1	37	c.1302C>T	CCDS12755.1																																																																																				0.622	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		15	56	0	0	0	1	0	15	56					A	49573389	G	A	49573389	2	1	475	1	0	0	0	0	0	0	0	1	8008	1136	40	1		1	KCNA7	19	49573389	Silent	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08	2353875	49573389	9555594	42	31932											
ZNF83	55769	broad.mit.edu	37	chr19	53117664	53117664	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgttggggtggggaaactaAggaactactgttgacagatt	12	10	14	5	1	0	2	0	1	0	1	0	4	0	4	0	5	3	2	0	5	4	5			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr19:53117664A>G	ENST00000597597.1	-	2	2407	c.154T>C	c.(154-156)Tta>Cta	p.L52L	ZNF83_ENST00000391789.4_Silent_p.L52L|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Silent_p.L52L|ZNF83_ENST00000301096.3_Silent_p.L52L|ZNF83_ENST00000544146.1_Silent_p.L52L|ZNF83_ENST00000536937.1_Silent_p.L52L|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000541777.2_Silent_p.L52L			P51522	ZNF83_HUMAN	zinc finger protein 83	52					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GGGGAAACTAAGGAACTACTG	0.353																																						ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(154-156)Tta>Cta		zinc finger protein 83							90	93	92					19																	53117664		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53117664A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.154T>C	19.37:g.53117664A>G						ZNF83_ENST00000544146.1_Silent_p.L52L|ZNF83_ENST00000301096.3_Silent_p.L52L|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.L52L|ZNF83_ENST00000545872.1_Silent_p.L52L|ZNF83_ENST00000536937.1_Silent_p.L52L|ZNF83_ENST00000391789.4_Silent_p.L52L	p.L52L			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	2407	-			52					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.154T>C	CCDS12854.1																																																																																				0.353	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		13	87	0	0	0	1	0	13	87					G	53117664	A	G	53117664	2	3	475	1	0	0	0	0	0	0	0	1	18180	69	3	4		4	ZNF83	19	53117664	Silent	SNP	A	TCGA-ZG-A8QW-01A-11D-A377-08	3544275	53117664	6011319	43	31933											
COL6A2	1292	broad.mit.edu	37	chr21	47532287	47532287	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgtcaccggcagcccctgCgggggcatcaagctgcaggc	7	4	14	16	3	2	0	2	0	0	0	2	0	2	0	3	4	4	4	3	4	1	0	rs142328765	byFrequency	TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr21:47532287C>T	ENST00000300527.4	+	3	614	c.510C>T	c.(508-510)tgC>tgT	p.C170C	COL6A2_ENST00000397763.1_Silent_p.C170C|COL6A2_ENST00000409416.1_Silent_p.C170C|COL6A2_ENST00000357838.4_Silent_p.C170C|COL6A2_ENST00000310645.5_Silent_p.C170C	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	170	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCAGCCCCTGCGGGGGCATCA	0.706													C|||	9	0.00179712	0	0.0014	5008	,	,		12665	0		0.008	False		,,,				2504	0					ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(508-510)tgC>tgT		collagen, type VI, alpha 2		C	,,	3,4265		0,3,2131	10	12	11		510,510,510	-2.2	0.8	21	dbSNP_134	11	39,8337		0,39,4149	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	,,	0,42,6280	TT,TC,CC		0.4656,0.0703,0.3322	,,	170/1020,170/919,170/829	47532287	42,12602	2134	4188	6322	SO:0001819	synonymous_variant	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532287C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.510C>T	21.37:g.47532287C>T						COL6A2_ENST00000357838.4_Silent_p.C170C|COL6A2_ENST00000397763.1_Silent_p.C170C|COL6A2_ENST00000310645.5_Silent_p.C170C|COL6A2_ENST00000409416.1_Silent_p.C170C	p.C170C	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	3	614	+	Breast(49;0.245)		170			Nonhelical region.|VWFA 1.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.510C>T	CCDS13728.1																																																																																				0.706	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			5	11	0	0	0	1	0	5	11					T	47532287	C	T	47532287	2	4	475	1	0	0	0	0	0	0	0	1	3700	776	27	1		1	COL6A2	21	47532287	Silent	SNP	C	TCGA-ZG-A8QW-01A-11D-A377-08		47532287	597608	44	31934											
EP300	2033	broad.mit.edu	37	chr22	41574665	41574665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctgtcccttctccacGgccacagtcccagccccccc	5	6	6	24	1	1	0	0	0	1	0	4	0	3	0	9	1	2	0	9	1	0	1	rs149456776		TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr22:41574665G>A	ENST00000263253.7	+	31	8169	c.6950G>A	c.(6949-6951)cGg>cAg	p.R2317Q	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2317					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			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						CCTTCTCCACGGCCACAGTCC	0.597			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"T,  N, F, Mis, O"	300 kd E1A-Binding protein gene			"L, E"	"MLL, RUNXBP2"		"colorectal, breast, pancreatic, AML, ALL, DLBCL"		0				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						c.(6949-6951)cGg>cAg		E1A binding protein p300		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	91	94	93		6950	4.2	1	22	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	missense	EP300	NM_001429.3	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	2317/2415	41574665	2,13004	2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	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	g.chr22:41574665G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6950G>A	22.37:g.41574665G>A	ENSP00000263253:p.Arg2317Gln					RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.R2317Q	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	8169	+			2317					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.6950G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.439102	0.43326	2.27E-4	1.16E-4	ENSG00000100393	ENST00000263253	D	0.86230	-2.09	5.18	4.16	0.48862	.	0.156607	0.29473	N	0.012059	D	0.83330	0.5231	L	0.55481	1.735	0.37134	D	0.901384	B	0.16166	0.016	B	0.04013	0.001	T	0.80489	-0.1360	10	0.27082	T	0.32	-12.9415	13.8802	0.63678	0.0737:0.0:0.9263:0.0	.	2317	Q09472	EP300_HUMAN	Q	2317	ENSP00000263253:R2317Q	ENSP00000263253:R2317Q	R	+	2	0	EP300	39904611	1.000000	0.71417	0.955000	0.39395	0.987000	0.75469	9.848000	0.99507	1.175000	0.42826	0.655000	0.94253	CGG		0.597	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		6	30	0	0	0	1	0	6	30					A	41574665	G	A	41574665	3	1	475	1	0	0	0	0	1	0	0	0	5148	1116	39	2	7072	2	EP300	22	41574665	Missense_Mutation	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08		41574665	9729901	45	31935											
CASZ1	54897	broad.mit.edu	37	chr1	10725511	10725511	+	Frame_Shift_Del	DEL	T	T	-																															agccggcgtcagctcgcttcTccaccaccacctggcggctc																										TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr1:10725511delT	ENST00000377022.3	-	5	451	c.134delA	c.(133-135)gagfs	p.E45fs	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Frame_Shift_Del_p.E45fs	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	45					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		AGCTCGCTTCTCCACCACCAC	0.721																																						ENST00000377022.3																			0				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						c.(133-135)ggfs		castor zinc finger 1							21	26	24					1																	10725511		2151	4242	6393	SO:0001589	frameshift_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10725511delT	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.134delA	1.37:g.10725511delT	ENSP00000366221:p.Glu45fs					CASZ1_ENST00000344008.5_Frame_Shift_Del_p.E45fs|CASZ1_ENST00000478728.2_5'UTR	p.E45fs	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	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)	5	451	-	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)	45					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Del	DEL	ENST00000377022.3	37	c.134delA	CCDS41246.1																																																																																				0.721	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		13	37						13	37	---	---	---	---	-	10725511	T	-	10725511	7	5	476	1	0	1	0	1	0	0	0	0	2685	1551	54	0	5217	0	CASZ1	1	10725511	Frame_Shift_Del	DEL	T	TCGA-ZG-A8QX-01A-11D-A377-08		10725511	238525110	1	31936											
MACF1	23499	broad.mit.edu	37	chr1	39924848	39924848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcaaccagctttctgcccGctggcagcaggtgtggctgt	6	10	13	12	1	2	0	1	0	1	0	2	1	2	0	2	3	4	5	2	3	1	1	rs376254871		TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr1:39924848G>A	ENST00000372915.3	+	90	21071	c.20984G>A	c.(20983-20985)cGc>cAc	p.R6995H	MACF1_ENST00000539005.1_Missense_Mutation_p.R4907H|MACF1_ENST00000361689.2_Missense_Mutation_p.R5037H|MACF1_ENST00000289893.4_Missense_Mutation_p.R5539H|MACF1_ENST00000567887.1_Missense_Mutation_p.R7133H|MACF1_ENST00000545844.1_Missense_Mutation_p.R5037H|MACF1_ENST00000564288.1_Missense_Mutation_p.R7096H|MACF1_ENST00000317713.7_Missense_Mutation_p.R5037H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6995					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			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)			CTTTCTGCCCGCTGGCAGCAG	0.542																																						ENST00000564288.1																			0				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						c.(21286-21288)cGc>cAc		microtubule-actin crosslinking factor 1							82	78	80					1																	39924848		2203	4300	6503	SO:0001583	missense	23499				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	g.chr1:39924848G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.20984G>A	1.37:g.39924848G>A	ENSP00000362006:p.Arg6995His					MACF1_ENST00000545844.1_Missense_Mutation_p.R5037H|MACF1_ENST00000567887.1_Missense_Mutation_p.R7133H|MACF1_ENST00000289893.4_Missense_Mutation_p.R5539H|MACF1_ENST00000372915.3_Missense_Mutation_p.R6995H|MACF1_ENST00000539005.1_Missense_Mutation_p.R4907H|MACF1_ENST00000317713.7_Missense_Mutation_p.R5037H|MACF1_ENST00000361689.2_Missense_Mutation_p.R5037H	p.R7096H			Q9UPN3	MACF1_HUMAN	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)		91	22064	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6995			EF-hand 2.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.21287G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.226099|5.226099	0.95173|0.95173	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000360115|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.66099	.|-0.19;1.03;-0.19;0.35;-0.02;1.03	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|0.000000	.|0.64402	.|D	.|0.000014	T|T	0.75117|0.75117	0.3806|0.3806	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.73708	.|0.981;0.966	T|T	0.70619|0.70619	-0.4822|-0.4822	5|9	.|.	.|.	.|.	.|.	20.4135|20.4135	0.99023|0.99023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|6995;5037	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	T|H	139|5037;6995;5037;5037;4907;5539	.|ENSP00000439537:R5037H;ENSP00000362006:R6995H;ENSP00000354573:R5037H;ENSP00000313438:R5037H;ENSP00000444364:R4907H;ENSP00000289893:R5539H	.|.	A|R	+|+	1|2	0|0	MACF1|MACF1	39697435|39697435	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.852000|7.852000	0.86927|0.86927	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	GCT|CGC		0.542	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	44	0	0	0	1	0	3	44					A	39924848	G	A	39924848	3	1	476	1	0	0	0	0	1	0	0	0	9144	1087	38	1	21607	1	MACF1	1	39924848	Missense_Mutation	SNP	G	TCGA-ZG-A8QX-01A-11D-A377-08	29199337	39924848	209325773	2	31937											
FAF1	11124	broad.mit.edu	37	chr1	50957466	50957466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacattttctctggcttcaCgttcatccttaaagaaaaag	12	14	5	10	1	4	1	3	0	1	1	6	1	5	1	1	1	0	2	1	1	4	5			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr1:50957466C>T	ENST00000396153.2	-	16	1953	c.1502G>A	c.(1501-1503)cGt>cAt	p.R501H	FAF1_ENST00000545823.1_Missense_Mutation_p.R259H|FAF1_ENST00000371778.4_Missense_Mutation_p.R501H	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	501					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TCTGGCTTCACGTTCATCCTT	0.348																																						ENST00000396153.2																			0				breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(1501-1503)cGt>cAt		Fas (TNFRSF6) associated factor 1							132	122	125					1																	50957466		2203	4300	6503	SO:0001583	missense	11124				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	g.chr1:50957466C>T	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1502G>A	1.37:g.50957466C>T	ENSP00000379457:p.Arg501His					FAF1_ENST00000545823.1_Missense_Mutation_p.R259H|FAF1_ENST00000371778.4_Missense_Mutation_p.R501H	p.R501H	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	16	1953	-			501					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	37	c.1502G>A	CCDS554.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816728	0.90790	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.83128	0.5187	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.84382	0.0550	9	0.72032	D	0.01	-19.2027	19.3878	0.94565	0.0:1.0:0.0:0.0	.	259;501	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	H	501;501;259;341;349	.	ENSP00000360843:R501H	R	-	2	0	FAF1	50730054	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.386000	0.73186	2.676000	0.91093	0.556000	0.70494	CGT		0.348	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		14	48	0	0	0	1	0	14	48					T	50957466	C	T	50957466	3	4	476	1	0	0	0	0	1	0	0	0	5369	536	19	1	466	1	FAF1	1	50957466	Missense_Mutation	SNP	C	TCGA-ZG-A8QX-01A-11D-A377-08	11032618	50957466	198293155	3	31938											
DISC1	27185	broad.mit.edu	37	chr1	232144702	232144702	+	Silent	SNP	C	C	T																															attccccccaggctccactcCgaggataaaaggaagacccc																								rs565912178		TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr1:232144702C>T	ENST00000439617.2	+	11	2267	c.2214C>T	c.(2212-2214)tcC>tcT	p.S738S	DISC1_ENST00000366637.3_Silent_p.S70S|DISC1_ENST00000535983.1_3'UTR|DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000537876.1_3'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	738	Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGCTCCACTCCGAGGATAAAA	0.532													C|||	1	0.000199681	8e-04	0	5008	,	,		17637	0		0	False		,,,				2504	0					ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(2212-2214)tcC>tcT		disrupted in schizophrenia 1							64	64	64					1																	232144702		1905	4136	6041	SO:0001819	synonymous_variant	27185				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	g.chr1:232144702C>T	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000439617.2:c.2214C>T	1.37:g.232144702C>T						DISC1_ENST00000537876.1_3'UTR|DISC1_ENST00000366637.3_Silent_p.S70S|DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000535983.1_3'UTR	p.S738S	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN			11	2267	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	738			Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Silent	SNP	ENST00000439617.2	37	c.2214C>T		.	.	.	.	.	.	.	.	.	.	C	3.574	-0.087097	0.07097	.	.	ENSG00000162946	ENST00000422590	.	.	.	4.72	-6.16	0.02098	.	.	.	.	.	T	0.26484	0.0647	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28964	-1.0027	4	.	.	.	0.2436	7.1356	0.25527	0.1351:0.2661:0.0:0.5989	.	.	.	.	L	141	.	.	P	+	2	0	DISC1	230211325	0.031000	0.19500	0.000000	0.03702	0.000000	0.00434	-0.735000	0.04888	-1.627000	0.01550	-0.827000	0.03088	CCG		0.532	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000092351.2	NM_018662		6	8	0	0	0	1	0	6	8					T	232144702	C	T	232144702	2	4	476	1	0	0	0	0	0	0	0	1	4538	639	23	2		2	DISC1	1	232144702	Silent	SNP	C	TCGA-ZG-A8QX-01A-11D-A377-08	181187236	232144702	17105919	4	31939	155	2									
DISC1	27185	broad.mit.edu	37	chr1	232144704	232144704	+	Missense_Mutation	SNP	A	A	G																															tccccccaggctccactccgAggataaaaggaagacccctt																										TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr1:232144704A>G	ENST00000439617.2	+	11	2269	c.2216A>G	c.(2215-2217)gAg>gGg	p.E739G	DISC1_ENST00000366637.3_Missense_Mutation_p.E71G|DISC1_ENST00000535983.1_3'UTR|DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000537876.1_3'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	739	Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CTCCACTCCGAGGATAAAAGG	0.537																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(2215-2217)gAg>gGg		disrupted in schizophrenia 1							66	65	65					1																	232144704		1901	4134	6035	SO:0001583	missense	27185				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	g.chr1:232144704A>G	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000439617.2:c.2216A>G	1.37:g.232144704A>G	ENSP00000403888:p.Glu739Gly					DISC1_ENST00000537876.1_3'UTR|DISC1_ENST00000366637.3_Missense_Mutation_p.E71G|DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000535983.1_3'UTR	p.E739G	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN			11	2269	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	739			Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000439617.2	37	c.2216A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.04|16.04	3.009212|3.009212	0.54361|0.54361	.|.	.|.	ENSG00000162946|ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366638;ENST00000532576;ENST00000427560|ENST00000422590	T|.	0.14766|.	2.48|.	4.72|4.72	3.59|3.59	0.41128|0.41128	.|.	0.297426|.	0.30850|.	N|.	0.008743|.	T|T	0.26521|0.26521	0.0648|0.0648	L|L	0.27053|0.27053	0.805|0.805	0.18873|0.18873	N|N	0.999987|0.999987	D;B;D;B;B;B;B|.	0.59357|.	0.981;0.09;0.985;0.033;0.033;0.033;0.033|.	P;B;P;B;B;B;B|.	0.58873|.	0.791;0.04;0.847;0.04;0.04;0.04;0.04|.	T|T	0.18713|0.18713	-1.0328|-1.0328	10|5	0.52906|.	T|.	0.07|.	-0.6264|-0.6264	7.0621|7.0621	0.25131|0.25131	0.8981:0.0:0.1019:0.0|0.8981:0.0:0.1019:0.0	.|.	771;617;771;739;617;739;739|.	C4P096;C4P094;E2QRA4;C4P098;F5H1F1;Q9NRI5-2;Q9NRI5|.	.;.;.;.;.;.;DISC1_HUMAN|.	G|G	739;739;771;617;71|142	ENSP00000403888:E739G|.	ENSP00000355597:E739G|.	E|R	+|+	2|1	0|2	DISC1|DISC1	230211327|230211327	1.000000|1.000000	0.71417|0.71417	0.004000|0.004000	0.12327|0.12327	0.001000|0.001000	0.01503|0.01503	4.666000|4.666000	0.61554|0.61554	0.823000|0.823000	0.34589|0.34589	-0.297000|-0.297000	0.09499|0.09499	GAG|AGG		0.537	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000092351.2	NM_018662		5	10	0	0	0	1	0	5	10					G	232144704	A	G	232144704	3	3	476	1	0	0	0	0	1	0	0	0	4538	304	11	4	2994	4	DISC1	1	232144704	Missense_Mutation	SNP	A	TCGA-ZG-A8QX-01A-11D-A377-08	2	232144704	17105917	5	31940	155	2									
SIX3	6496	broad.mit.edu	37	chr2	45170030	45170030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggcggcagcgcgaccgcGccgcggcggccaagaacagg	8	0	17	16	9	0	1	0	0	0	1	0	2	0	1	4	5	2	1	4	5	2	0			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr2:45170030G>A	ENST00000260653.3	+	1	1129	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	263					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCGCGACCGCGCCGCGGCGGC	0.677																																						ENST00000260653.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11						c.(787-789)Gcc>Acc		SIX homeobox 3							12	14	13					2																	45170030		1840	3906	5746	SO:0001583	missense	6496				visual perception	nucleus		g.chr2:45170030G>A	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"Homeoboxes / SINE class"	10889	protein-coding gene	gene with protein product		603714	"holoprosencephaly 2, alobar or semilobar", "sine oculis homeobox homolog 3 (Drosophila)"	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.787G>A	2.37:g.45170030G>A	ENSP00000260653:p.Ala263Thr						p.A263T	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN			1	1129	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	263			Poly-Ala.		D6W5A5|Q53T42	Missense_Mutation	SNP	ENST00000260653.3	37	c.787G>A	CCDS1821.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.400157	0.42613	.	.	ENSG00000138083	ENST00000260653	D	0.91631	-2.88	3.38	2.47	0.30058	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.64402	U	0.000002	D	0.90160	0.6925	N	0.16233	0.39	0.58432	D	0.999998	D	0.65815	0.995	P	0.62435	0.902	D	0.88139	0.2843	10	0.39692	T	0.17	.	11.9629	0.53019	0.0:0.1775:0.8224:0.0	.	263	O95343	SIX3_HUMAN	T	263	ENSP00000260653:A263T	ENSP00000260653:A263T	A	+	1	0	SIX3	45023534	1.000000	0.71417	0.997000	0.53966	0.249000	0.25844	9.273000	0.95719	0.590000	0.29694	0.484000	0.47621	GCC		0.677	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		5	12	0	0	0	1	0	5	12					A	45170030	G	A	45170030	3	1	476	1	0	0	0	0	1	0	0	0	14348	1087	38	1	789	1	SIX3	2	45170030	Missense_Mutation	SNP	G	TCGA-ZG-A8QX-01A-11D-A377-08		45170030	198029343	6	31941											
NR4A2	4929	broad.mit.edu	37	chr2	157182776	157182776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccattccccaaagccacgaaCgcattgcaacctgtgcaaga	13	6	7	15	2	0	1	0	0	0	1	1	2	1	1	5	0	5	3	5	0	4	2			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr2:157182776C>T	ENST00000339562.4	-	7	1788	c.1426G>A	c.(1426-1428)Gtt>Att	p.V476I	NR4A2_ENST00000409572.1_Missense_Mutation_p.V476I|NR4A2_ENST00000539077.1_Missense_Mutation_p.V487I|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409108.2_Intron|NR4A2_ENST00000426264.1_Missense_Mutation_p.V413I	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	476					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						AAGCCACGAACGCATTGCAAC	0.463																																						ENST00000339562.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(1426-1428)Gtt>Att		nuclear receptor subfamily 4, group A, member 2							116	92	100					2																	157182776		2203	4300	6503	SO:0001583	missense	0				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	g.chr2:157182776C>T	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1426G>A	2.37:g.157182776C>T	ENSP00000344479:p.Val476Ile					NR4A2_ENST00000409108.2_Intron|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409572.1_Missense_Mutation_p.V476I|NR4A2_ENST00000426264.1_Missense_Mutation_p.V413I|NR4A2_ENST00000539077.1_Missense_Mutation_p.V487I	p.V476I	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			7	1788	-			476					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.1426G>A	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644013	0.29246	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077	D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06	5.63	5.63	0.86233	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.663319	0.16896	N	0.195101	D	0.93038	0.7784	L	0.41961	1.31	0.80722	D	1	B	0.28820	0.224	B	0.17098	0.017	D	0.89901	0.4044	10	0.18276	T	0.48	.	15.1798	0.72947	0.0:0.9305:0.0:0.0695	.	476	P43354	NR4A2_HUMAN	I	476;413;476;487	ENSP00000344479:V476I;ENSP00000389986:V413I;ENSP00000386747:V476I;ENSP00000444925:V487I	ENSP00000344479:V476I	V	-	1	0	NR4A2	156891022	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.920000	0.70017	2.814000	0.96858	0.563000	0.77884	GTT		0.463	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			9	18	0	0	0	1	0	9	18					T	157182776	C	T	157182776	3	4	476	1	0	0	0	0	1	0	0	0	10633	536	19	1	378	1	NR4A2	2	157182776	Missense_Mutation	SNP	C	TCGA-ZG-A8QX-01A-11D-A377-08	112012746	157182776	86016597	7	31942											
DNAJC10	54431	broad.mit.edu	37	chr2	183622509	183622509	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttcaaagataccctgagAtaagattttttcccccaaaa	15	11	5	10	1	1	3	1	1	0	3	2	4	2	3	3	0	1	1	3	0	5	6			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr2:183622509A>G	ENST00000264065.7	+	19	2315	c.1900A>G	c.(1900-1902)Ata>Gta	p.I634V		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	634	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			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)			ATACCCTGAGATAAGATTTTT	0.308																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.6																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(1900-1902)Ata>Gta		DnaJ (Hsp40) homolog, subfamily C, member 10							70	76	74					2																	183622509		2203	4300	6503	SO:0001583	missense	54431				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	g.chr2:183622509A>G		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1900A>G	2.37:g.183622509A>G	ENSP00000264065:p.Ile634Val						p.I634V	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		19	2315	+			634			Thioredoxin 3.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.1900A>G	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.631858	0.67015	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.42131	0.98	5.87	5.87	0.94306	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.59088	0.2168	L	0.49640	1.575	0.80722	D	1	P;D	0.89917	0.867;1.0	P;D	0.87578	0.47;0.998	T	0.54510	-0.8283	10	0.34782	T	0.22	.	16.2496	0.82475	1.0:0.0:0.0:0.0	.	588;634	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	V	634;588	ENSP00000264065:I634V	ENSP00000264065:I634V	I	+	1	0	DNAJC10	183330754	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.083000	0.89515	2.371000	0.80710	0.533000	0.62120	ATA		0.308	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		3	34	0	0	0	1	0	3	34					G	183622509	A	G	183622509	3	3	476	1	0	0	0	0	1	0	0	0	4629	333	12	4	1966	4	DNAJC10	2	183622509	Missense_Mutation	SNP	A	TCGA-ZG-A8QX-01A-11D-A377-08	26439733	183622509	59576864	8	31943											
SPAG16	79582	broad.mit.edu	37	chr2	214174863	214174863	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatttcttgatcaaaatGggaatgaccagaactcttga	14	12	8	7	0	3	4	1	3	2	1	3	5	3	5	1	1	2	1	1	1	5	3			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr2:214174863G>C	ENST00000331683.5	+	4	455	c.360G>C	c.(358-360)atG>atC	p.M120I	SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000447990.1_Missense_Mutation_p.M120I|SPAG16_ENST00000413312.1_Missense_Mutation_p.M89I|SPAG16_ENST00000432529.2_Missense_Mutation_p.M120I|SPAG16_ENST00000272898.7_Missense_Mutation_p.M120I	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	120					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				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)		TGATCAAAATGGGAATGACCA	0.318																																						ENST00000413312.1																			0				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(265-267)atG>atC		sperm associated antigen 16							126	132	130					2																	214174863		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214174863G>C	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"WD repeat domain containing"	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.360G>C	2.37:g.214174863G>C	ENSP00000332592:p.Met120Ile					SPAG16_ENST00000272898.7_Missense_Mutation_p.M120I|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000447990.1_Missense_Mutation_p.M120I|SPAG16_ENST00000331683.5_Missense_Mutation_p.M120I|SPAG16_ENST00000432529.2_Missense_Mutation_p.M120I	p.M89I			Q8N0X2	SPG16_HUMAN		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)	3	513	+		Renal(323;0.00461)	120					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.267G>C	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291772	0.59976	.	.	ENSG00000144451	ENST00000331683;ENST00000432529;ENST00000413312;ENST00000272898;ENST00000447990	T	0.57595	0.39	5.61	5.61	0.85477	.	0.295025	0.39407	N	0.001378	T	0.70124	0.3188	M	0.75777	2.31	0.80722	D	1	P;P;P;P	0.50528	0.831;0.673;0.936;0.774	B;P;P;B	0.61201	0.406;0.542;0.885;0.296	T	0.71155	-0.4675	10	0.56958	D	0.05	.	15.492	0.75615	0.0:0.0:1.0:0.0	.	89;60;120;120	Q8N0X2-3;Q4G1A2;Q8N0X2;Q8N0X2-4	.;.;SPG16_HUMAN;.	I	120;120;89;120;120	ENSP00000332592:M120I	ENSP00000272898:M120I	M	+	3	0	SPAG16	213883108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.881000	0.69706	2.802000	0.96397	0.655000	0.94253	ATG		0.318	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		7	41	0	0	0	1	0	7	41					C	214174863	G	C	214174863	3	2	476	1	0	0	0	0	1	0	0	0	14978	1348	47	5	374	5	SPAG16	2	214174863	Missense_Mutation	SNP	G	TCGA-ZG-A8QX-01A-11D-A377-08	30552354	214174863	29024510	9	31944											
HEG1	57493	broad.mit.edu	37	chr3	124731806	124731806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttccagctgtagtctgtaCggctatagggccagtgacca	8	12	11	10	1	1	1	0	1	1	0	2	1	2	1	3	2	2	4	3	2	4	6	rs200683806	byFrequency	TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr3:124731806C>T	ENST00000311127.4	-	6	2684	c.2617G>A	c.(2617-2619)Gta>Ata	p.V873I	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	873					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTAGTCTGTACGGCTATAGGG	0.498													C|||	2	0.000399361	0.0015	0	5008	,	,		24604	0		0	False		,,,				2504	0					ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(2617-2619)Gta>Ata		heart development protein with EGF-like domains 1		C	ILE/VAL	6,4042		0,6,2018	154	153	153		2617	2.7	0	3		153	0,8396		0,0,4198	yes	missense	HEG1	NM_020733.1	29	0,6,6216	TT,TC,CC		0.0,0.1482,0.0482	benign	873/1382	124731806	6,12438	2024	4198	6222	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124731806C>T	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2617G>A	3.37:g.124731806C>T	ENSP00000311502:p.Val873Ile						p.V873I	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			6	2684	-			873					Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.2617G>A	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	C	7.332	0.619105	0.14129	0.001482	0.0	ENSG00000173706	ENST00000311127	D	0.88741	-2.42	4.54	2.72	0.32119	.	0.226336	0.21659	U	0.071058	D	0.85270	0.5658	L	0.55481	1.735	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.002	T	0.74475	-0.3653	10	0.49607	T	0.09	.	11.6477	0.51271	0.0:0.8446:0.0:0.1554	.	873;873	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	I	873	ENSP00000311502:V873I	ENSP00000311502:V873I	V	-	1	0	HEG1	126214496	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.037000	0.12164	0.264000	0.21851	-2.069000	0.00389	GTA		0.498	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		4	95	0	0	0	1	0	4	95					T	124731806	C	T	124731806	3	4	476	1	0	0	0	0	1	0	0	0	7044	536	19	1	1576	1	HEG1	3	124731806	Missense_Mutation	SNP	C	TCGA-ZG-A8QX-01A-11D-A377-08		124731806	73290624	10	31945											
CENPC1	1060	broad.mit.edu	37	chr4	68358586	68358586	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttcagaaataagttcataCttctttcatcgttatcaaga	13	16	4	8	1	5	2	4	0	1	2	6	2	5	2	0	0	1	2	0	0	5	7			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr4:68358586C>T	ENST00000273853.6	-	15	2670		c.e15+1			NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C						chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										TAAGTTCATACTTCTTTCATC	0.279																																						ENST00000273853.6																			0											c.e15+1		centromere protein C							68	58	61					4																	68358586		1785	4041	5826	SO:0001630	splice_region_variant	1060							g.chr4:68358586C>T	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"centromere protein C 1"	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.2419+1G>A	4.37:g.68358586C>T								NM_001812.2	NP_001803.2					15	2670	-								Q8IW27|Q9P0M5	Splice_Site	SNP	ENST00000273853.6	37		CCDS47063.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556119	0.45487	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9395	0.52892	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CENPC1	68041181	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	1.175000	0.31944	2.509000	0.84616	0.655000	0.94253	.		0.279	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2		Intron	4	8	0	0	0	1	0	4	8					T	68358586	C	T	68358586	5	4	476	1	0	0	0	0	0	0	1	0	3229	579	20	3	431	3	CENPC1	4	68358586	Splice_Site	SNP	C	TCGA-ZG-A8QX-01A-11D-A377-08		68358586	122795690	11	31946											
WDR70	55100	broad.mit.edu	37	chr5	37725056	37725056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgccttgcctatgttcCgtgagccccgccaacggagt	6	10	10	15	3	1	1	1	1	0	0	2	2	2	2	6	1	4	1	6	1	2	3			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr5:37725056C>T	ENST00000265107.4	+	16	1774	c.1618C>T	c.(1618-1620)Cgt>Tgt	p.R540C		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	540							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCTATGTTCCGTGAGCCCCG	0.458																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1618-1620)Cgt>Tgt		WD repeat domain 70							140	145	143					5																	37725056		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37725056C>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1618C>T	5.37:g.37725056C>T	ENSP00000265107:p.Arg540Cys						p.R540C	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		16	1774	+	all_lung(31;0.000285)		540					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.1618C>T	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128573	0.77549	.	.	ENSG00000082068	ENST00000265107	T	0.71222	-0.55	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.85371	0.5681	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.86923	0.2068	10	0.66056	D	0.02	-36.0439	15.1548	0.72733	0.1411:0.8589:0.0:0.0	.	540	Q9NW82	WDR70_HUMAN	C	540	ENSP00000265107:R540C	ENSP00000265107:R540C	R	+	1	0	WDR70	37760813	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.405000	0.52630	2.827000	0.97445	0.650000	0.86243	CGT		0.458	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		25	76	0	0	0	1	0	25	76					T	37725056	C	T	37725056	3	4	476	1	0	0	0	0	1	0	0	0	17318	652	23	2	1680	2	WDR70	5	37725056	Missense_Mutation	SNP	C	TCGA-ZG-A8QX-01A-11D-A377-08		37725056	143190204	12	31947											
HAPLN1	1404	broad.mit.edu	37	chr5	82937445	82937445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatggggtagcggacgctgCcatccgccaaccagcccgca	9	4	13	15	4	0	1	0	0	0	1	1	2	1	2	5	3	4	3	5	3	2	1			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr5:82937445C>T	ENST00000274341.4	-	5	1785	c.935G>A	c.(934-936)gGc>gAc	p.G312D		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	312	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			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)	Hyaluronan(DB08818)	GCGGACGCTGCCATCCGCCAA	0.532																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(934-936)gGc>gAc		hyaluronan and proteoglycan link protein 1							110	115	113					5																	82937445		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82937445C>T		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"Immunoglobulin superfamily / V-set domain containing"	2380	protein-coding gene	gene with protein product	"Cartilage link protein", "hyaluronan and proteoglycan link protein 1"	115435	"cartilage linking protein 1"	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.935G>A	5.37:g.82937445C>T	ENSP00000274341:p.Gly312Asp						p.G312D	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	5	1785	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	312			Link 2.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.935G>A	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479996	0.84747	.	.	ENSG00000145681	ENST00000274341	T	0.35789	1.29	5.22	5.22	0.72569	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.71384	0.3333	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79674	-0.1705	10	0.72032	D	0.01	.	19.1617	0.93535	0.0:1.0:0.0:0.0	.	312	P10915	HPLN1_HUMAN	D	312	ENSP00000274341:G312D	ENSP00000274341:G312D	G	-	2	0	HAPLN1	82973201	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.969000	0.70422	2.581000	0.87130	0.655000	0.94253	GGC		0.532	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		24	96	0	0	0	1	0	24	96					T	82937445	C	T	82937445	3	4	476	1	0	0	0	0	1	0	0	0	6954	739	26	3	133	3	HAPLN1	5	82937445	Missense_Mutation	SNP	C	TCGA-ZG-A8QX-01A-11D-A377-08	45212389	82937445	97977815	13	31948											
PCDHGA6	56109	broad.mit.edu	37	chr5	140756065	140756065	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaacgaaaggagaacccagGcaacttcaggtgagtttctt	14	8	11	8	1	2	2	1	1	1	1	2	5	2	2	1	3	3	2	1	3	4	3			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr5:140756065G>T	ENST00000517434.1	+	1	2415	c.2415G>T	c.(2413-2415)agG>agT	p.R805S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	805					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACCCAGGCAACTTCAGG	0.478																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(2413-2415)agG>agT									57	59	58					5																	140756065		2125	4260	6385	SO:0001583	missense	0							g.chr5:140756065G>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.2415G>T	5.37:g.140756065G>T	ENSP00000429601:p.Arg805Ser					PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.R805S	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2415	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.2415G>T	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	0.019	-1.451715	0.01080	.	.	ENSG00000253731	ENST00000517434	D	0.94497	-3.44	3.03	-6.06	0.02165	.	.	.	.	.	T	0.76948	0.4059	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.67964	-0.5534	9	0.06891	T	0.86	.	2.2176	0.03964	0.1466:0.0978:0.2644:0.4913	.	805;805	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	S	805	ENSP00000429601:R805S	ENSP00000429601:R805S	R	+	3	2	PCDHGA6	140736249	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-4.637000	0.00205	-3.222000	0.00211	0.305000	0.20034	AGG		0.478	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		11	28	1	0	3.86212e-05	1	3.86212e-05	11	28					T	140756065	G	T	140756065	3	4	476	1	0	0	0	0	1	0	0	0	11558	1194	42	5	2417	5	PCDHGA6	5	140756065	Missense_Mutation	SNP	G	TCGA-ZG-A8QX-01A-11D-A377-08	57818620	140756065	40159195	14	31949											
HEPACAM2	253012	broad.mit.edu	37	chr7	92838015	92838015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatgcaacttctaagcgaGgcccatgcttaatgatatat	13	11	8	9	1	1	2	0	1	1	1	1	3	1	2	1	1	4	2	1	1	5	5			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr7:92838015G>A	ENST00000394468.2	-	4	967	c.890C>T	c.(889-891)cCt>cTt	p.P297L	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P285L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P320L|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P285L	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	297	Ig-like C2-type 2.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTCTAAGCGAGGCCCATGCTT	0.448																																						ENST00000394468.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(889-891)cCt>cTt		HEPACAM family member 2							167	150	156					7																	92838015		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92838015G>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.890C>T	7.37:g.92838015G>A	ENSP00000377980:p.Pro297Leu					HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P285L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P320L|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P285L	p.P297L	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN			4	967	-			297			Ig-like C2-type 2.		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.890C>T	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283389	0.80803	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.23	5.23	0.72850	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.997	D;D;D;D	0.79108	0.985;0.992;0.981;0.956	T	0.00472	-1.1719	10	0.30078	T	0.28	-18.3878	16.0183	0.80460	0.0:0.1347:0.8653:0.0	.	320;285;297;285	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	L	297;285;285;320	ENSP00000377980:P297L;ENSP00000340532:P285L;ENSP00000389592:P285L;ENSP00000390204:P320L	ENSP00000340532:P285L	P	-	2	0	HEPACAM2	92675951	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.730000	0.74780	2.826000	0.97356	0.655000	0.94253	CCT		0.448	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		18	48	0	0	0	1	0	18	48					A	92838015	G	A	92838015	3	1	476	1	0	0	0	0	1	0	0	0	7053	1000	35	3	526	3	HEPACAM2	7	92838015	Missense_Mutation	SNP	G	TCGA-ZG-A8QX-01A-11D-A377-08		92838015	66300648	15	31950											
BAG1	51510	broad.mit.edu	37	chr9	33262714	33262714	+	5'Flank	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttacccttaaatatgagtTtctgaaaagactgtggaacc	13	12	8	8	0	1	3	0	2	1	1	1	4	1	4	2	1	2	2	2	1	7	4			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr9:33262714T>A	ENST00000223500.8	+	0	0				BAG1_ENST00000472232.3_Missense_Mutation_p.K189I|BAG1_ENST00000379704.2_Missense_Mutation_p.K74I|CHMP5_ENST00000419016.2_5'Flank|BAG1_ENST00000467389.2_5'Flank	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5						endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			AAATATGAGTTTCTGAAAAGA	0.438																																						ENST00000472232.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(565-567)aAa>aTa		BCL2-associated athanogene							73	70	71					9																	33262714		2203	4300	6503	SO:0001631	upstream_gene_variant	573				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	g.chr9:33262714T>A	AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"Charged multivesicular body proteins"	26942	protein-coding gene	gene with protein product		610900	"chromosome 9 open reading frame 83", "chromatin modifying protein 5"	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765		9.37:g.33262714T>A	Exception_encountered					BAG1_ENST00000379704.2_Missense_Mutation_p.K74I	p.K189I	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314.5	Q99933	BAG1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		2	652	-			189			Interaction with HSPA8.|Ubiquitin-like.		B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Missense_Mutation	SNP	ENST00000223500.8	37	c.566A>T	CCDS6537.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006612	0.74932	.	.	ENSG00000107262	ENST00000472232;ENST00000379700;ENST00000379704;ENST00000473781	T;T;T	0.75938	-0.98;-0.98;-0.98	4.95	3.82	0.43975	Ubiquitin supergroup (1);Ubiquitin (2);	0.049016	0.85682	D	0.000000	D	0.86397	0.5923	M	0.90977	3.165	0.52501	D	0.999956	D	0.76494	0.999	D	0.75020	0.985	D	0.86146	0.1584	10	0.87932	D	0	-11.1572	7.2446	0.26115	0.0:0.0993:0.0:0.9007	.	189	Q99933	BAG1_HUMAN	I	189;74;74;80	ENSP00000420514:K189I;ENSP00000369026:K74I;ENSP00000419092:K80I	ENSP00000369022:K74I	K	-	2	0	BAG1	33252714	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.835000	0.69368	0.907000	0.36646	0.533000	0.62120	AAA		0.438	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052040.3	NM_016410		5	25	0	0	0	1	0	5	25					A	33262714	T	A	33262714	1	1	476	0	1	0	0	0	0	0	0	0	1286	1841	64	5		5	BAG1	9	33262714	5'Flank	SNP	T	TCGA-ZG-A8QX-01A-11D-A377-08		33262714	107950717	16	31951											
ODF2	4957	broad.mit.edu	37	chr9	131231507	131231507	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccaccatcttcagaaaagCtggtctcagtgatgcggtta	10	10	10	11	2	3	2	2	1	2	1	4	2	3	2	2	2	2	2	2	2	3	2			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr9:131231507C>T	ENST00000434106.3	+	5	658	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	ODF2_ENST00000393533.2_Silent_p.L99L|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000393527.3_Silent_p.L75L|ODF2_ENST00000546203.1_Silent_p.L80L|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000444119.2_Silent_p.L75L|ODF2_ENST00000351030.3_Silent_p.L94L|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372814.3_Silent_p.L143L|ODF2_ENST00000372807.5_Silent_p.L94L|ODF2_ENST00000372791.3_Silent_p.L80L|ODF2_ENST00000604420.1_Silent_p.L99L	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	99					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			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						TTCAGAAAAGCTGGTCTCAGT	0.443																																						ENST00000303890.5																			0				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						c.(223-225)Ctg>Ttg		outer dense fiber of sperm tails 2							182	155	164					9																	131231507		2203	4300	6503	SO:0001819	synonymous_variant	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131231507C>T	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.295C>T	9.37:g.131231507C>T						ODF2_ENST00000393533.2_Silent_p.L99L|ODF2_ENST00000372807.5_Silent_p.L94L|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000444119.2_Silent_p.L75L|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000546203.1_Silent_p.L80L|ODF2_ENST00000372791.3_Silent_p.L80L|ODF2_ENST00000351030.3_Silent_p.L94L|ODF2_ENST00000372814.3_Silent_p.L143L|ODF2_ENST00000372796.4_Silent_p.L99L|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000434106.2_Silent_p.L99L	p.L75L	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			7	808	+			99					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	c.223C>T	CCDS56588.1																																																																																				0.443	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			10	38	0	0	0	1	0	10	38					T	131231507	C	T	131231507	2	4	476	1	0	0	0	0	0	0	0	1	10827	796	28	3		3	ODF2	9	131231507	Silent	SNP	C	TCGA-ZG-A8QX-01A-11D-A377-08	97968793	131231507	9981924	17	31952											
PCDH15	65217	broad.mit.edu	37	chr10	55955442	55955442	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaatatgtatttaacttaCatcttctatgtccttgtcca	12	17	3	9	0	2	0	0	0	2	0	4	0	4	0	2	0	2	1	2	0	7	8			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr10:55955442C>T	ENST00000320301.6	-	11	1700		c.e11+1		PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000373965.2_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000409834.1_Splice_Site|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000373957.3_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000395440.1_Splice_Site	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			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)				ATTTAACTTACATCTTCTATG	0.368										HNSCC(58;0.16)																												ENST00000373965.2																			0				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						c.e11+1		protocadherin-related 15							81	77	79					10																	55955442		2203	4300	6503	SO:0001630	splice_region_variant	65217				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	g.chr10:55955442C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1305+1G>A	10.37:g.55955442C>T		HNSCC(58;0.16)				PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000395440.1_Splice_Site|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000409834.1_Splice_Site|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000373957.3_Splice_Site		NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			11	1700	-		Melanoma(3;0.117)|Lung SC(717;0.238)						A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Splice_Site	SNP	ENST00000320301.6	37		CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151441	0.78001	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0383	0.89312	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCDH15	55625448	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	7.787000	0.85759	2.368000	0.80403	0.591000	0.81541	.		0.368	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	Intron	12	26	0	0	0	1	0	12	26					T	55955442	C	T	55955442	5	4	476	1	0	0	0	0	0	0	1	0	11511	492	17	3	6297	3	PCDH15	10	55955442	Splice_Site	SNP	C	TCGA-ZG-A8QX-01A-11D-A377-08		55955442	79579305	18	31953											
MEN1	4221	broad.mit.edu	37	chr11	64575501	64575501	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagacagggcgaggtggacAtcccggagacccagggcctg	9	4	16	12	2	1	2	1	0	0	2	2	5	2	3	3	5	0	0	3	5	0	0			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr11:64575501A>T	ENST00000337652.1	-	3	1034	c.531T>A	c.(529-531)gaT>gaA	p.D177E	MEN1_ENST00000312049.6_Missense_Mutation_p.D172E|MEN1_ENST00000394376.1_Missense_Mutation_p.D177E|MEN1_ENST00000377326.3_Missense_Mutation_p.D172E|MEN1_ENST00000443283.1_Missense_Mutation_p.D177E|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000394374.2_Missense_Mutation_p.D177E|MEN1_ENST00000377313.1_Missense_Mutation_p.D177E|MEN1_ENST00000377321.1_Missense_Mutation_p.D172E|MEN1_ENST00000377316.2_Missense_Mutation_p.D172E|MEN1_ENST00000315422.4_Missense_Mutation_p.D172E	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	177			D -> Y (in MEN1). {ECO:0000269|PubMed:12112656, ECO:0000269|PubMed:9888389}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.A167fs*10(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CGAGGTGGACATCCCGGAGAC	0.622			"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																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		1	Deletion - Frameshift(1)	p.A167fs*10(1)	parathyroid(1)	NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(529-531)gaT>gaA		multiple endocrine neoplasia I							53	48	50					11																	64575501		2201	4297	6498	SO:0001583	missense	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	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	g.chr11:64575501A>T	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.531T>A	11.37:g.64575501A>T	ENSP00000337088:p.Asp177Glu					MEN1_ENST00000315422.4_Missense_Mutation_p.D172E|MEN1_ENST00000394374.2_Missense_Mutation_p.D177E|MEN1_ENST00000377316.2_Missense_Mutation_p.D172E|MEN1_ENST00000394376.1_Missense_Mutation_p.D177E|MEN1_ENST00000443283.1_Missense_Mutation_p.D177E|MEN1_ENST00000377313.1_Missense_Mutation_p.D177E|MEN1_ENST00000377326.3_Missense_Mutation_p.D172E|MEN1_ENST00000312049.6_Missense_Mutation_p.D172E|MEN1_ENST00000377321.1_Missense_Mutation_p.D172E	p.D177E	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			3	1034	-			177		D -> Y (in MEN1).			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.531T>A	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.188611	0.78789	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99674	-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36	4.76	-0.177	0.13307	.	0.119061	0.53938	D	0.000042	D	0.99384	0.9783	M	0.68317	2.08	0.47659	D	0.999484	D;D;D	0.71674	0.995;0.99;0.998	D;D;D	0.72625	0.917;0.978;0.964	D	0.99091	1.0840	10	0.87932	D	0	-11.9815	8.0418	0.30526	0.6374:0.0:0.3626:0.0	.	172;172;177	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	E	172;172;172;172;172;177;177;177;177;177;172;172;172	ENSP00000366533:D172E;ENSP00000366538:D172E;ENSP00000366543:D172E;ENSP00000308975:D172E;ENSP00000323747:D172E;ENSP00000337088:D177E;ENSP00000377901:D177E;ENSP00000377899:D177E;ENSP00000396940:D177E;ENSP00000366530:D177E;ENSP00000413944:D172E;ENSP00000394933:D172E;ENSP00000411218:D172E	ENSP00000308975:D172E	D	-	3	2	MEN1	64332077	0.999000	0.42202	0.999000	0.59377	0.994000	0.84299	0.505000	0.22642	0.008000	0.14787	0.374000	0.22700	GAT		0.622	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			8	18	0	0	0	1	0	8	18					T	64575501	A	T	64575501	3	4	476	1	0	0	0	0	1	0	0	0	9472	214	8	5	1348	5	MEN1	11	64575501	Missense_Mutation	SNP	A	TCGA-ZG-A8QX-01A-11D-A377-08		64575501	70431015	19	31954											
HOXC4	3221	broad.mit.edu	37	chr12	54448678	54448678	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccaagcgctcgaggacaGcctatacccggcagcaagtc	12	4	10	15	3	0	0	0	0	0	0	2	2	0	1	3	2	5	3	3	2	5	2			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr12:54448678G>C	ENST00000430889.2	+	2	530	c.484G>C	c.(484-486)Gcc>Ccc	p.A162P	HOXC4_ENST00000609810.1_Missense_Mutation_p.A162P|HOXC4_ENST00000303406.4_Missense_Mutation_p.A162P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	162					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						CTCGAGGACAGCCTATACCCG	0.572																																						ENST00000430889.2																			0				cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(484-486)Gcc>Ccc		homeobox C4							41	41	41					12																	54448678		2203	4300	6503	SO:0001583	missense	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54448678G>C		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"Homeoboxes / ANTP class : HOXL subclass"	5126	protein-coding gene	gene with protein product		142974	"homeo box C4"	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.484G>C	12.37:g.54448678G>C	ENSP00000399808:p.Ala162Pro					HOXC4_ENST00000303406.4_Missense_Mutation_p.A162P	p.A162P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN			2	530	+			162						Missense_Mutation	SNP	ENST00000430889.2	37	c.484G>C	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.579034	0.65878	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.96300	-3.97;-3.97	3.85	3.85	0.44370	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95762	0.8621	N	0.16862	0.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96732	0.9540	10	0.87932	D	0	.	15.0798	0.72106	0.0:0.0:1.0:0.0	.	162	P09017	HXC4_HUMAN	P	162	ENSP00000305973:A162P;ENSP00000399808:A162P	ENSP00000305973:A162P	A	+	1	0	HOXC4	52734945	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.548000	0.98103	2.139000	0.66308	0.448000	0.29417	GCC		0.572	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			7	22	0	0	0	1	0	7	22					C	54448678	G	C	54448678	3	2	476	1	0	0	0	0	1	0	0	0	7313	971	34	5	490	5	HOXC4	12	54448678	Missense_Mutation	SNP	G	TCGA-ZG-A8QX-01A-11D-A377-08		54448678	79403217	20	31955											
RNF17	56163	broad.mit.edu	37	chr13	25348980	25348980	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtaaatactagacaacgCtactacccaatggctggata	14	9	8	10	1	0	1	0	0	0	1	0	2	0	2	1	2	4	4	1	2	9	6			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr13:25348980C>T	ENST00000255324.5	+	3	307	c.255C>T	c.(253-255)cgC>cgT	p.R85R	RNF17_ENST00000255325.6_Silent_p.R85R|RNF17_ENST00000381921.1_Silent_p.R85R|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	85					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			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)		CTAGACAACGCTACTACCCAA	0.353																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(253-255)cgC>cgT		ring finger protein 17							101	97	98					13																	25348980		2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25348980C>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.255C>T	13.37:g.25348980C>T						RNF17_ENST00000255325.5_Silent_p.R85R|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Silent_p.R85R	p.R85R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	3	307	+		Lung SC(185;0.0225)|Breast(139;0.077)	85					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.255C>T	CCDS9308.2																																																																																				0.353	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		5	26	0	0	0	1	0	5	26					T	25348980	C	T	25348980	2	4	476	1	0	0	0	0	0	0	0	1	13461	784	28	3		3	RNF17	13	25348980	Silent	SNP	C	TCGA-ZG-A8QX-01A-11D-A377-08		25348980	89820898	21	31956											
LCP1	3936	broad.mit.edu	37	chr13	46733779	46733779	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatcatttcctcatcggAcactgatcctctggccattt	7	14	5	15	1	3	1	2	1	1	0	7	2	6	2	4	2	0	0	4	2	0	2			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr13:46733779A>G	ENST00000398576.2	-	5	407	c.19T>C	c.(19-21)Tcc>Ccc	p.S7P	LCP1_ENST00000323076.2_Missense_Mutation_p.S7P|LCP1_ENST00000460190.1_5'UTR			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	7					actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCCTCATCGGACACTGATCCT	0.403			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(19-21)Tcc>Ccc		lymphocyte cytosolic protein 1 (L-plastin)							157	134	141					13																	46733779		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46733779A>G	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"EF-hand domain containing"	6528	protein-coding gene	gene with protein product	"plastin 2"	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.19T>C	13.37:g.46733779A>G	ENSP00000381581:p.Ser7Pro					LCP1_ENST00000460190.1_5'UTR|LCP1_ENST00000323076.2_Missense_Mutation_p.S7P	p.S7P			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	5	407	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	7					B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.19T>C	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.313227	0.81358	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500;ENST00000442275	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	5.13	5.13	0.70059	.	0.179147	0.50627	D	0.000103	T	0.22044	0.0531	L	0.54323	1.7	0.80722	D	1	P	0.49090	0.919	P	0.49829	0.623	T	0.00636	-1.1633	10	0.56958	D	0.05	-7.0084	12.9753	0.58534	1.0:0.0:0.0:0.0	.	7	P13796	PLSL_HUMAN	P	7	ENSP00000315757:S7P;ENSP00000381581:S7P;ENSP00000408052:S7P;ENSP00000402157:S7P	ENSP00000315757:S7P	S	-	1	0	LCP1	45631780	1.000000	0.71417	0.995000	0.50966	0.939000	0.58152	5.886000	0.69743	2.048000	0.60808	0.533000	0.62120	TCC		0.403	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		10	39	0	0	0	1	0	10	39					G	46733779	A	G	46733779	3	3	476	1	0	0	0	0	1	0	0	0	8691	275	10	4	1924	4	LCP1	13	46733779	Missense_Mutation	SNP	A	TCGA-ZG-A8QX-01A-11D-A377-08	21384799	46733779	68436099	22	31957											
CLEC3A	10143	broad.mit.edu	37	chr16	78064471	78064471	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatccccaggaactccgaCgaaatcaacgccctccaaga	13	6	7	15	3	1	1	1	0	0	1	4	4	4	2	5	1	2	1	5	1	5	1	rs370712626		TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr16:78064471C>T	ENST00000575655.1	+	3	408	c.327C>T	c.(325-327)gaC>gaT	p.D109D	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000299642.4_Silent_p.D118D	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	109	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GGAACTCCGACGAAATCAACG	0.478																																						ENST00000299642.4																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(352-354)gaC>gaT		C-type lectin domain family 3, member A		C		0,4396		0,0,2198	78	70	73		327	-5.4	0.5	16		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CLEC3A	NM_005752.4		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		109/198	78064471	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064471C>T	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"C-type lectin domain containing"	2052	protein-coding gene	gene with protein product		613588	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.327C>T	16.37:g.78064471C>T						CLEC3A_ENST00000565808.1_3'UTR|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Silent_p.D109D	p.D118D	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN			3	439	+			109			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Silent	SNP	ENST00000575655.1	37	c.354C>T																																																																																					0.478	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		7	41	0	0	0	1	0	7	41					T	78064471	C	T	78064471	2	4	476	1	0	0	0	0	0	0	0	1	3510	535	19	1		1	CLEC3A	16	78064471	Silent	SNP	C	TCGA-ZG-A8QX-01A-11D-A377-08		78064471	12290282	23	31958											
GFAP	2670	broad.mit.edu	37	chr17	42992620	42992620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatgtagctggcaaagcGgtcattgagctccatcatct	9	11	10	11	2	3	1	2	1	1	0	5	2	4	1	1	2	3	4	1	2	2	2	rs59793293		TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr17:42992620G>A	ENST00000253408.5	-	1	300	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	GFAP_ENST00000435360.2_Missense_Mutation_p.R79C|GFAP_ENST00000586793.1_Missense_Mutation_p.R79C|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	79	Coil 1A.|Rod.		R -> C (in ALEXD; dbSNP:rs59793293). {ECO:0000269|PubMed:11138011, ECO:0000269|PubMed:12034785, ECO:0000269|PubMed:15732097, ECO:0000269|PubMed:17894839, ECO:0000269|PubMed:23364391}.|R -> G (in ALEXD). {ECO:0000269|PubMed:12034785}.|R -> H (in ALEXD; dbSNP:rs59285727). {ECO:0000269|PubMed:11138011, ECO:0000269|PubMed:11567214, ECO:0000269|PubMed:12034785, ECO:0000269|PubMed:23364391}.|R -> L (in ALEXD). {ECO:0000269|PubMed:12581808, ECO:0000269|PubMed:23364391}.|R -> P (in ALEXD). {ECO:0000269|PubMed:17894839}.		astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CTGGCAAAGCGGTCATTGAGC	0.607																																						ENST00000253408.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23	GRCh37	CM010047|CM023072	GFAP	M	rs59793293	c.(235-237)Cgc>Tgc		glial fibrillary acidic protein							73	60	65					17																	42992620		2203	4300	6503	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42992620G>A	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"Intermediate filaments type III"	4235	protein-coding gene	gene with protein product	"intermediate filament protein"	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.235C>T	17.37:g.42992620G>A	ENSP00000253408:p.Arg79Cys					GFAP_ENST00000435360.2_Missense_Mutation_p.R79C|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.R79C	p.R79C	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN			1	300	-		Prostate(33;0.0959)	79		R -> C (in ALEXD; dbSNP:rs59793293).|R -> H (in ALEXD; dbSNP:rs59285727).	Coil 1A.|Rod.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.235C>T	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900383	0.72754	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360;ENST00000376990	D;D;D	0.94138	-3.36;-3.36;-3.36	4.82	3.85	0.44370	Filament (1);	0.000000	0.85682	D	0.000000	D	0.96623	0.8898	M	0.91406	3.205	0.80722	A	1	D;P	0.89917	1.0;0.466	D;P	0.73380	0.98;0.504	D	0.98323	1.0529	9	0.87932	D	0	.	8.3408	0.32243	0.0796:0.0:0.7671:0.1534	rs59793293	79;79	E9PAX3;P14136	.;GFAP_HUMAN	C	79;54;79;79	ENSP00000253408:R79C;ENSP00000403962:R79C;ENSP00000366189:R79C	ENSP00000253408:R79C	R	-	1	0	GFAP	40348146	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.615000	0.83006	1.405000	0.46838	0.561000	0.74099	CGC		0.607	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		5	51	0	0	0	1	0	5	51					A	42992620	G	A	42992620	3	1	476	1	0	0	0	0	1	0	0	0	6337	1116	39	2	1228	2	GFAP	17	42992620	Missense_Mutation	SNP	G	TCGA-ZG-A8QX-01A-11D-A377-08		42992620	38202590	24	31959											
SPOP	8405	broad.mit.edu	37	chr17	47696689	47696689	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagctgaccagtaacaggtAaagtgacaggtaatctttgc	14	9	10	8	0	1	2	0	2	1	0	1	2	1	2	1	2	3	4	1	2	4	4			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr17:47696689A>T	ENST00000393328.2	-	5	624	c.259T>A	c.(259-261)Tac>Aac	p.Y87N	SPOP_ENST00000504102.1_Missense_Mutation_p.Y87N|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87N|SPOP_ENST00000393331.3_Missense_Mutation_p.Y87N	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.Y87N(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AGTAACAGGTAAAGTGACAGG	0.403										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(2)	p.Y87N(2)	prostate(2)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(259-261)Tac>Aac		speckle-type POZ protein							113	106	108					17																	47696689		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696689A>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.259T>A	17.37:g.47696689A>T	ENSP00000377001:p.Tyr87Asn	Prostate(2;0.17)				SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87N|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87N|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87N	p.Y87N	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	729	-			87			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.259T>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.737620	0.89573	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.86163	0.5867	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89503	0.3765	10	0.66056	D	0.02	-9.2801	15.4649	0.75390	1.0:0.0:0.0:0.0	.	87	O43791	SPOP_HUMAN	N	87;87;87;87;87;40;87;87;87;87;87	ENSP00000377001:Y87N;ENSP00000377004:Y87N;ENSP00000240327:Y87N;ENSP00000425905:Y87N;ENSP00000420908:Y87N;ENSP00000426986:Y87N;ENSP00000420960:Y87N;ENSP00000426262:Y87N;ENSP00000424119:Y87N;ENSP00000426537:Y87N	ENSP00000240327:Y87N	Y	-	1	0	SPOP	45051688	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TAC		0.403	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		19	55	0	0	0	1	0	19	55					T	47696689	A	T	47696689	3	4	476	1	0	0	0	0	1	0	0	0	15083	362	13	5	893	5	SPOP	17	47696689	Missense_Mutation	SNP	A	TCGA-ZG-A8QX-01A-11D-A377-08	4704069	47696689	33498521	25	31960											
MBD1	4152	broad.mit.edu	37	chr18	47801395	47801395	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaactcggcaggtggcgaGggggccagggctctggggtg	6	6	21	8	2	1	1	0	1	1	0	2	2	1	1	1	8	1	2	1	8	1	0			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr18:47801395G>A	ENST00000591416.1	-	10	1361	c.930C>T	c.(928-930)ccC>ccT	p.P310P	MBD1_ENST00000587605.1_Silent_p.P310P|MBD1_ENST00000269468.5_Silent_p.P310P|MBD1_ENST00000382948.5_Silent_p.P310P|MBD1_ENST00000457839.2_Silent_p.P335P|MBD1_ENST00000347968.3_Silent_p.P310P|MBD1_ENST00000398488.1_Silent_p.P310P|MBD1_ENST00000353909.3_Silent_p.P261P|MBD1_ENST00000585595.1_Silent_p.P335P|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000590208.1_Silent_p.P310P|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000398495.2_Silent_p.P335P|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000349085.2_Silent_p.P310P|MBD1_ENST00000585672.1_Silent_p.P261P|MBD1_ENST00000339998.6_Silent_p.P310P|MBD1_ENST00000398493.1_Silent_p.P310P|MBD1_ENST00000424334.2_Silent_p.P361P			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	310	Pro-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CAGGTGGCGAGGGGGCCAGGG	0.602																																						ENST00000591416.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(928-930)ccC>ccT		methyl-CpG binding domain protein 1							49	51	50					18																	47801395		2203	4300	6503	SO:0001819	synonymous_variant	4152				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	g.chr18:47801395G>A	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.930C>T	18.37:g.47801395G>A						MBD1_ENST00000591535.1_Intron|MBD1_ENST00000398488.1_Silent_p.P310P|MBD1_ENST00000590208.1_Silent_p.P310P|MBD1_ENST00000585672.1_Silent_p.P261P|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000585595.1_Silent_p.P335P|MBD1_ENST00000457839.2_Silent_p.P335P|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000424334.2_Silent_p.P361P|MBD1_ENST00000587605.1_Silent_p.P310P|MBD1_ENST00000398493.1_Silent_p.P310P|MBD1_ENST00000398495.2_Silent_p.P335P|MBD1_ENST00000382948.5_Silent_p.P310P|MBD1_ENST00000353909.3_Silent_p.P261P|MBD1_ENST00000349085.2_Silent_p.P310P|MBD1_ENST00000347968.3_Silent_p.P310P|MBD1_ENST00000339998.6_Silent_p.P310P|MBD1_ENST00000269468.5_Silent_p.P310P|MBD1_ENST00000269471.5_Intron	p.P310P			Q9UIS9	MBD1_HUMAN			10	1361	-			310			Pro-rich.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Silent	SNP	ENST00000591416.1	37	c.930C>T	CCDS11943.1																																																																																				0.602	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		7	30	0	0	0	1	0	7	30					A	47801395	G	A	47801395	2	1	476	1	0	0	0	0	0	0	0	1	9342	987	35	3		3	MBD1	18	47801395	Silent	SNP	G	TCGA-ZG-A8QX-01A-11D-A377-08		47801395	30275853	26	31961											
PIP5K1C	23396	broad.mit.edu	37	chr19	3653333	3653333	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagggcgctgaaggtgtcGgcgtccagcaggagcccctc	7	5	15	14	3	0	1	0	1	0	0	3	2	1	2	4	4	2	2	4	4	1	0			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr19:3653333G>A	ENST00000335312.3	-	7	964	c.876C>T	c.(874-876)gcC>gcT	p.A292A	PIP5K1C_ENST00000537021.1_Silent_p.A292A|PIP5K1C_ENST00000539785.1_Silent_p.A292A|PIP5K1C_ENST00000589578.1_Silent_p.A292A|PIP5K1C_ENST00000587482.1_5'UTR	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	292	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			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)		TGAAGGTGTCGGCGTCCAGCA	0.672																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3																			0				large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.(874-876)gcC>gcT		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							54	34	41					19																	3653333		2203	4300	6503	SO:0001819	synonymous_variant	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3653333G>A	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.876C>T	19.37:g.3653333G>A						PIP5K1C_ENST00000589578.1_Silent_p.A292A|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Silent_p.A292A|PIP5K1C_ENST00000537021.1_Silent_p.A292A	p.A292A	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	7	964	-		Hepatocellular(1079;0.137)	292			PIPK.		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Silent	SNP	ENST00000335312.3	37	c.876C>T	CCDS32872.1																																																																																				0.672	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		5	18	0	0	0	1	0	5	18					A	3653333	G	A	3653333	2	1	476	1	0	0	0	0	0	0	0	1	11941	1103	39	2		2	PIP5K1C	19	3653333	Silent	SNP	G	TCGA-ZG-A8QX-01A-11D-A377-08		3653333	55475650	27	31962											
ZNF285	26974	broad.mit.edu	37	chr19	44891979	44891979	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgattctggggtaagaaccTgtgtcaggctttgccatgct	8	12	12	9	1	2	1	1	0	1	1	2	2	2	1	2	3	3	3	2	3	2	3			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr19:44891979T>C	ENST00000330997.4	-	4	492	c.428A>G	c.(427-429)cAg>cGg	p.Q143R	ZNF285_ENST00000544719.2_Missense_Mutation_p.Q143R|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.Q150R	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GGTAAGAACCTGTGTCAGGCT	0.413																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(427-429)cAg>cGg		zinc finger protein 285							93	92	92					19																	44891979		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44891979T>C	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.428A>G	19.37:g.44891979T>C	ENSP00000333595:p.Gln143Arg					ZNF285_ENST00000591679.1_Missense_Mutation_p.Q150R|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.Q143R	p.Q143R	NM_152354.3	NP_689567.3					4	492	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.428A>G	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	5.358	0.251318	0.10130	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.05925	3.37	3.22	0.101	0.14517	.	.	.	.	.	T	0.03095	0.0091	N	0.22421	0.69	0.09310	N	1	B;B	0.34290	0.447;0.447	B;B	0.28232	0.087;0.087	T	0.43829	-0.9367	9	0.16896	T	0.51	.	2.9115	0.05738	0.2007:0.203:0.0:0.5962	.	167;143	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	R	166;143	ENSP00000333595:Q143R	ENSP00000333595:Q143R	Q	-	2	0	ZNF285	49583819	0.005000	0.15991	0.230000	0.23976	0.163000	0.22366	0.695000	0.25527	0.254000	0.21573	0.373000	0.22412	CAG		0.413	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		26	104	0	0	0	1	0	26	104					C	44891979	T	C	44891979	3	2	476	1	0	0	0	0	1	0	0	0	17819	1580	55	4	1348	4	ZNF285	19	44891979	Missense_Mutation	SNP	T	TCGA-ZG-A8QX-01A-11D-A377-08	41238646	44891979	14237004	28	31963											
TBC1D17	79735	broad.mit.edu	37	chr19	50386969	50386969	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccctgagcaggagcggagaAactcacttctgcatggatac	11	7	12	11	1	2	2	1	1	1	1	2	5	2	4	1	3	5	2	1	3	2	2			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr19:50386969A>C	ENST00000221543.5	+	10	1392	c.1093A>C	c.(1093-1095)Aac>Cac	p.N365H	TBC1D17_ENST00000535102.2_Missense_Mutation_p.N332H	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	365	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GGAGCGGAGAAACTCACTTCT	0.567																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1093-1095)Aac>Cac		TBC1 domain family, member 17							134	105	115					19																	50386969		2203	4300	6503	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50386969A>C	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1093A>C	19.37:g.50386969A>C	ENSP00000221543:p.Asn365His					TBC1D17_ENST00000535102.2_Missense_Mutation_p.N332H	p.N365H	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	10	1392	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	365			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.1093A>C	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.034507	0.75617	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.11930	2.73;2.73	5.39	5.39	0.77823	Rab-GAP/TBC domain (4);	0.104868	0.64402	D	0.000007	T	0.39911	0.1096	M	0.86502	2.82	0.58432	D	0.999997	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.984	T	0.38735	-0.9647	10	0.19590	T	0.45	-52.7622	13.3425	0.60553	1.0:0.0:0.0:0.0	.	332;365	F5H1W7;Q9HA65	.;TBC17_HUMAN	H	365;332	ENSP00000221543:N365H;ENSP00000446323:N332H	ENSP00000221543:N365H	N	+	1	0	TBC1D17	55078781	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	8.633000	0.90999	2.038000	0.60285	0.459000	0.35465	AAC		0.567	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		10	39	0	0	0	1	0	10	39					C	50386969	A	C	50386969	3	2	476	1	0	0	0	0	1	0	0	0	15603	14	1	5	1131	5	TBC1D17	19	50386969	Missense_Mutation	SNP	A	TCGA-ZG-A8QX-01A-11D-A377-08	5494990	50386969	8742014	29	31964											
ZNF468	90333	broad.mit.edu	37	chr19	53344800	53344800	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttctgattaaagaccttGccacatacatcacatttaca	13	12	4	12	1	2	2	1	1	1	1	2	2	2	2	2	0	3	1	2	0	4	6	rs202238742		TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr19:53344800G>A	ENST00000595646.1	-	4	867	c.747C>T	c.(745-747)ggC>ggT	p.G249G	ZNF468_ENST00000390651.4_Silent_p.G196G|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000396409.4_Silent_p.G196G			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		TAAAGACCTTGCCACATACAT	0.378																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(745-747)ggC>ggT		zinc finger protein 468							120	103	109					19																	53344800		2203	4300	6503	SO:0001819	synonymous_variant	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53344800G>A	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.747C>T	19.37:g.53344800G>A						ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Silent_p.G196G|ZNF468_ENST00000390651.4_Silent_p.G196G|ZNF468_ENST00000243639.4_3'UTR	p.G249G			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	867	-			249					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	ENST00000595646.1	37	c.747C>T	CCDS33094.1																																																																																				0.378	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		12	45	0	0	0	1	0	12	45					A	53344800	G	A	53344800	2	1	476	1	0	0	0	0	0	0	0	1	17925	1306	46	3		3	ZNF468	19	53344800	Silent	SNP	G	TCGA-ZG-A8QX-01A-11D-A377-08	2957831	53344800	5784183	30	31965											
NLRP4	147945	broad.mit.edu	37	chr19	56369989	56369989	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagggtatgtggacagaCacatttgagttttgtgaaga	12	11	14	4	0	0	5	0	2	0	3	0	6	0	6	0	2	0	3	0	2	2	4			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr19:56369989C>T	ENST00000301295.6	+	3	1652	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	NLRP4_ENST00000346986.5_Silent_p.D410D|NLRP4_ENST00000587891.1_Silent_p.D335D	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	410	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGTGGACAGACACATTTGAGT	0.577																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(1228-1230)gaC>gaT		NLR family, pyrin domain containing 4							95	95	95					19																	56369989		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56369989C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1230C>T	19.37:g.56369989C>T						NLRP4_ENST00000346986.5_Silent_p.D410D|NLRP4_ENST00000587891.1_Silent_p.D335D	p.D410D	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1652	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	410			NACHT.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.1230C>T	CCDS12936.1																																																																																				0.577	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		18	39	0	0	0	1	0	18	39					T	56369989	C	T	56369989	2	4	476	1	0	0	0	0	0	0	0	1	10479	477	17	3		3	NLRP4	19	56369989	Silent	SNP	C	TCGA-ZG-A8QX-01A-11D-A377-08	3025189	56369989	2758994	31	31966											
MACROD2	140733	broad.mit.edu	37	chr20	15918144	15918144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgtcaacactgtcactgtgCccggccctgcttcagaagag	8	9	11	13	1	3	2	3	0	0	2	3	2	3	2	2	1	3	1	2	1	2	1			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr20:15918144C>T	ENST00000310348.4	+	12	862	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	MACROD2_ENST00000402914.1_Missense_Mutation_p.P53S|MACROD2_ENST00000378058.3_Missense_Mutation_p.P53S|MACROD2_ENST00000217246.4_Missense_Mutation_p.P288S			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	288	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TGTCACTGTGCCCGGCCCTGC	0.458																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(862-864)Ccc>Tcc		MACRO domain containing 2							132	136	135					20																	15918144		2203	4300	6503	SO:0001583	missense	140733							g.chr20:15918144C>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.862C>T	20.37:g.15918144C>T	ENSP00000309809:p.Pro288Ser					MACROD2_ENST00000310348.4_Missense_Mutation_p.P288S|MACROD2_ENST00000402914.1_Missense_Mutation_p.P53S|MACROD2_ENST00000378058.3_Missense_Mutation_p.P53S	p.P288S	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			12	1257	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	288			Glu-rich.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.862C>T	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153652	0.57259	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058	T;T;T;T	0.55760	2.34;2.33;0.5;0.5	5.91	2.9	0.33743	.	0.578448	0.15818	N	0.243145	T	0.44117	0.1278	L	0.56769	1.78	0.20703	N	0.999869	B;B	0.20261	0.025;0.043	B;B	0.17098	0.008;0.017	T	0.36359	-0.9751	10	0.38643	T	0.18	1.2459	5.1559	0.15034	0.1658:0.6648:0.0:0.1695	.	288;288	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	S	288;288;53;53	ENSP00000217246:P288S;ENSP00000309809:P288S;ENSP00000385290:P53S;ENSP00000367297:P53S	ENSP00000217246:P288S	P	+	1	0	MACROD2	15866144	0.052000	0.20516	0.095000	0.20976	0.087000	0.18053	0.174000	0.16743	0.380000	0.24823	0.650000	0.86243	CCC		0.458	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		7	80	0	0	0	1	0	7	80					T	15918144	C	T	15918144	3	4	476	1	0	0	0	0	1	0	0	0	9146	739	26	3	908	3	MACROD2	20	15918144	Missense_Mutation	SNP	C	TCGA-ZG-A8QX-01A-11D-A377-08		15918144	47107376	32	31967											
MYO18B	84700	broad.mit.edu	37	chr22	26422469	26422469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcattggcactgagcagaGcccggtccaccaatgtccac	9	6	11	15	2	0	2	0	1	0	1	2	2	2	2	4	3	2	3	4	3	1	1			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr22:26422469G>A	ENST00000407587.2	+	43	6701	c.6532G>A	c.(6532-6534)Gcc>Acc	p.A2178T	MYO18B_ENST00000536101.1_Missense_Mutation_p.A2177T|MYO18B_ENST00000335473.7_Missense_Mutation_p.A2177T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2177						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACTGAGCAGAGCCCGGTCCAC	0.527																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(6529-6531)Gcc>Acc		myosin XVIIIB							98	107	104					22																	26422469		1961	4150	6111	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422469G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6532G>A	22.37:g.26422469G>A	ENSP00000386096:p.Ala2178Thr					MYO18B_ENST00000407587.2_Missense_Mutation_p.A2178T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A2177T	p.A2177T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	6779	+			2177					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6529G>A		.	.	.	.	.	.	.	.	.	.	G	12.83	2.056350	0.36277	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87029	-2.18;-2.18;-2.2	5.31	1.3	0.21679	.	.	.	.	.	T	0.77205	0.4096	L	0.41236	1.265	0.09310	N	1	B;B;B;B;B	0.15473	0.002;0.003;0.008;0.001;0.013	B;B;B;B;B	0.15870	0.003;0.002;0.006;0.003;0.014	T	0.59653	-0.7414	9	0.21540	T	0.41	.	3.2571	0.06835	0.1252:0.1625:0.5458:0.1666	.	1690;2179;2177;2178;2177	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	T	2177;2177;2178	ENSP00000441229:A2177T;ENSP00000334563:A2177T;ENSP00000386096:A2178T	ENSP00000334563:A2177T	A	+	1	0	MYO18B	24752469	0.003000	0.15002	0.251000	0.24312	0.037000	0.13140	0.962000	0.29280	1.194000	0.43101	0.591000	0.81541	GCC		0.527	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		19	67	0	0	0	1	0	19	67					A	26422469	G	A	26422469	3	1	476	1	0	0	0	0	1	0	0	0	10066	971	34	3	6695	3	MYO18B	22	26422469	Missense_Mutation	SNP	G	TCGA-ZG-A8QX-01A-11D-A377-08		26422469	24882097	33	31968											
WDR77	79084	broad.mit.edu	37	chr1	111983955	111983955	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtggtaagcagggagtgaTtgagcggggaccaagtcgca	10	7	17	7	2	0	2	0	2	0	0	1	4	0	4	1	4	2	3	1	4	2	2	rs201514516	byFrequency	TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:111983955T>C	ENST00000235090.5	-	10	1132	c.926A>G	c.(925-927)aAt>aGt	p.N309S	RP11-552M11.4_ENST00000416099.1_RNA|WDR77_ENST00000411751.2_Missense_Mutation_p.N245S|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	309					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGGGAGTGATTGAGCGGGGA	0.532													T|||	2	0.000399361	0	0	5008	,	,		18160	0		0	False		,,,				2504	0.002					ENST00000235090.5																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(925-927)aAt>aGt		WD repeat domain 77							112	104	107					1																	111983955		2203	4300	6503	SO:0001583	missense	79084				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr1:111983955T>C	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"WD repeat domain containing"	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.926A>G	1.37:g.111983955T>C	ENSP00000235090:p.Asn309Ser					WDR77_ENST00000497278.1_5'UTR|WDR77_ENST00000411751.2_Missense_Mutation_p.N245S	p.N309S	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	10	1132	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	309					B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Missense_Mutation	SNP	ENST00000235090.5	37	c.926A>G	CCDS835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.76|19.76	3.887231|3.887231	0.72410|0.72410	.|.	.|.	ENSG00000116455|ENSG00000116455	ENST00000449340|ENST00000235090;ENST00000411751	.|T;T	.|0.29917	.|1.55;1.56	5.91|5.91	4.79|4.79	0.61399|0.61399	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.132593	.|0.64402	.|D	.|0.000002	T|T	0.14184|0.14184	0.0343|0.0343	L|L	0.60455|0.60455	1.87|1.87	0.33556|0.33556	D|D	0.59674|0.59674	.|B;P	.|0.39665	.|0.136;0.682	.|B;B	.|0.32928	.|0.035;0.155	T|T	0.05321|0.05321	-1.0892|-1.0892	5|10	.|0.46703	.|T	.|0.11	-16.5945|-16.5945	11.7189|11.7189	0.51670|0.51670	0.0:0.0695:0.0:0.9305|0.0:0.0695:0.0:0.9305	.|.	.|245;309	.|B4DP38;Q9BQA1	.|.;MEP50_HUMAN	V|S	258|309;245	.|ENSP00000235090:N309S;ENSP00000400321:N245S	.|ENSP00000235090:N309S	I|N	-|-	1|2	0|0	WDR77|WDR77	111785478|111785478	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.187000|3.187000	0.50950|0.50950	1.061000|1.061000	0.40601|0.40601	0.533000|0.533000	0.62120|0.62120	ATC|AAT		0.532	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102		13	43	0	0	0	1	0	13	43					C	111983955	T	C	111983955	3	2	477	1	0	0	0	0	1	0	0	0	17324	1493	52	4	106	4	WDR77	1	111983955	Missense_Mutation	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08		111983955	137266666	1	31969											
ZBTB7B	51043	broad.mit.edu	37	chr1	154988264	154988264	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgagaagccctttgcctgCgaggtctgcggtgttcgatt	5	11	15	10	4	1	1	0	0	1	1	2	4	1	1	2	3	4	1	2	3	1	3			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:154988264C>T	ENST00000368426.3	+	3	1265	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C	ZBTB7B_ENST00000417934.2_Silent_p.C410C|ZBTB7B_ENST00000535420.1_Silent_p.C376C|ZBTB7B_ENST00000292176.2_Silent_p.C376C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	376					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTTTGCCTGCGAGGTCTGCG	0.627																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(1126-1128)tgC>tgT		zinc finger and BTB domain containing 7B							39	44	42					1																	154988264		2201	4300	6501	SO:0001819	synonymous_variant	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988264C>T	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18668	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 15"	607646	"zinc finger protein 67 homolog (mouse)"	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1128C>T	1.37:g.154988264C>T						ZBTB7B_ENST00000292176.2_Silent_p.C376C|ZBTB7B_ENST00000417934.2_Silent_p.C410C|ZBTB7B_ENST00000535420.1_Silent_p.C376C	p.C376C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	1265	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		376					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Silent	SNP	ENST00000368426.3	37	c.1128C>T	CCDS1081.1																																																																																				0.627	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		10	39	0	0	0	1	0	10	39					T	154988264	C	T	154988264	2	4	477	1	0	0	0	0	0	0	0	1	17551	776	27	1		1	ZBTB7B	1	154988264	Silent	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08	43004309	154988264	94262357	2	31970											
INSRR	3645	broad.mit.edu	37	chr1	156819190	156819190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgggaatggtgagccccGcggccacccaggaccctagc	8	3	13	17	3	0	1	0	1	0	0	0	3	0	3	6	4	2	0	6	4	2	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:156819190G>A	ENST00000368195.3	-	6	1688	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	431					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			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)					GGTGAGCCCCGCGGCCACCCA	0.622																																						ENST00000368195.3																			0				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						c.(1291-1293)gCg>gTg		insulin receptor-related receptor							93	95	94					1																	156819190		2203	4300	6503	SO:0001583	missense	3645				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	g.chr1:156819190G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1292C>T	1.37:g.156819190G>A	ENSP00000357178:p.Ala431Val					NTRK1_ENST00000392302.2_Intron	p.A431V	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			6	1688	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		431					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.1292C>T	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351280	0.41700	.	.	ENSG00000027644	ENST00000368195	T	0.79352	-1.26	4.77	2.85	0.33270	EGF receptor, L domain (1);	0.153579	0.30365	N	0.009789	T	0.51856	0.1699	.	.	.	0.09310	N	1	B	0.26120	0.142	B	0.22386	0.039	T	0.51647	-0.8679	9	0.66056	D	0.02	.	11.6272	0.51153	0.0:0.0:0.5333:0.4667	.	431	P14616	INSRR_HUMAN	V	431	ENSP00000357178:A431V	ENSP00000357178:A431V	A	-	2	0	INSRR	155085814	0.999000	0.42202	0.052000	0.19188	0.982000	0.71751	3.256000	0.51492	0.598000	0.29829	0.561000	0.74099	GCG		0.622	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		14	49	0	0	0	1	0	14	49					A	156819190	G	A	156819190	3	1	477	1	0	0	0	0	1	0	0	0	7774	1087	38	1	2668	1	INSRR	1	156819190	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	1830926	156819190	92431431	3	31971											
PLEKHA6	22874	broad.mit.edu	37	chr1	204199577	204199578	+	Frame_Shift_Ins	INS	-	-	G																															ggggactggggtcgggggccINSgggctggccgggagctgcag																								rs139335539	byFrequency	TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:204199577_204199578insG	ENST00000272203.3	-	18	2862_2863	c.2546_2547insC	c.(2545-2547)ccgfs	p.P849fs	PLEKHA6_ENST00000414478.1_Frame_Shift_Ins_p.P869fs	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	849										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)			GGTCGGGGGCCGGGCTGGCCGG	0.653																																						ENST00000272203.3																			0				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						c.(2545-2547)cgcfs		pleckstrin homology domain containing, family A member 6																																				SO:0001589	frameshift_variant	22874							g.chr1:204199577_204199578insG	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2547dupC	1.37:g.204199580_204199580dupG	ENSP00000272203:p.Pro849fs					PLEKHA6_ENST00000414478.1_Frame_Shift_Ins_p.R869fs	p.R849fs	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		18	2862_2863	-	all_cancers(21;0.0222)|Breast(84;0.179)		849					A7MD51|Q5VTI6	Frame_Shift_Ins	INS	ENST00000272203.3	37	c.2546_2547insC	CCDS1444.1																																																																																				0.653	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		2	4						2	4	---	---	---	---	G	204199578	-	G	204199577	7	5	477	1	0	1	1	0	0	0	0	0	12060	639	23	0	619	0	PLEKHA6	1	204199577	Frame_Shift_Ins	INS	-	TCGA-ZG-A8QY-01A-11D-A377-08	47380387	204199577	45051044	4	31972											
MARK1	4139	broad.mit.edu	37	chr1	220791998	220791998	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaactgcgagagcgagttttAcgagggaagtaccgtattcc	11	9	13	8	4	0	1	0	0	0	1	1	6	1	2	2	1	5	3	2	1	5	5			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:220791998A>G	ENST00000366917.4	+	9	1076	c.810A>G	c.(808-810)ttA>ttG	p.L270L	MARK1_ENST00000366918.4_Silent_p.L248L|MARK1_ENST00000402574.1_Silent_p.L135L					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGCGAGTTTTACGAGGGAAGT	0.353																																						ENST00000402574.1																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63						c.(403-405)ttA>ttG		MAP/microtubule affinity-regulating kinase 1							98	99	99					1																	220791998		2203	4300	6503	SO:0001819	synonymous_variant	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220791998A>G	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.810A>G	1.37:g.220791998A>G						MARK1_ENST00000366917.4_Silent_p.L270L|MARK1_ENST00000366918.4_Silent_p.L248L	p.L135L	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	9	1407	+			270			Protein kinase.			Silent	SNP	ENST00000366917.4	37	c.405A>G	CCDS31029.2																																																																																				0.353	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			23	36	0	0	0	1	0	23	36					G	220791998	A	G	220791998	2	3	477	1	0	0	0	0	0	0	0	1	9312	388	14	4		4	MARK1	1	220791998	Silent	SNP	A	TCGA-ZG-A8QY-01A-11D-A377-08	16592421	220791998	28458623	5	31973											
TLR5	7100	broad.mit.edu	37	chr1	223284141	223284141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgttccagatggcatcctGgatattggcaatgcggtttt	8	14	11	8	1	0	1	0	0	0	1	2	2	2	2	2	4	1	4	2	4	2	5			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:223284141G>T	ENST00000540964.1	-	4	2694	c.2233C>A	c.(2233-2235)Cag>Aag	p.Q745K	TLR5_ENST00000342210.6_Missense_Mutation_p.Q745K			O60602	TLR5_HUMAN	toll-like receptor 5	745	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			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)		ATGGCATCCTGGATATTGGCA	0.473																																						ENST00000540964.1																			0				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						c.(2233-2235)Cag>Aag		toll-like receptor 5							79	73	75					1																	223284141		2203	4300	6503	SO:0001583	missense	7100				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	g.chr1:223284141G>T		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.2233C>A	1.37:g.223284141G>T	ENSP00000440643:p.Gln745Lys					TLR5_ENST00000342210.6_Missense_Mutation_p.Q745K	p.Q745K			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	2694	-			745		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).	TIR.		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.2233C>A	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944194	0.53079	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.07567	3.18;3.18;3.18	5.81	5.81	0.92471	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.065812	0.64402	D	0.000018	T	0.18341	0.0440	M	0.68952	2.095	0.35556	D	0.80425	B	0.25235	0.121	B	0.35971	0.215	T	0.06391	-1.0829	10	0.49607	T	0.09	.	20.0791	0.97764	0.0:0.0:1.0:0.0	.	745	O60602	TLR5_HUMAN	K	745	ENSP00000440643:Q745K;ENSP00000355846:Q745K;ENSP00000340089:Q745K	ENSP00000340089:Q745K	Q	-	1	0	TLR5	221350764	1.000000	0.71417	0.998000	0.56505	0.642000	0.38348	3.917000	0.56424	2.735000	0.93741	0.650000	0.86243	CAG		0.473	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		3	21	1	0	0.115264	1	0.11811	3	21					T	223284141	G	T	223284141	3	4	477	1	0	0	0	0	1	0	0	0	15951	1357	47	5	347	5	TLR5	1	223284141	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	2492143	223284141	25966480	6	31974											
RHOU	58480	broad.mit.edu	37	chr1	228871654	228871654	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgtcaagtgcgtgctggtCggcgacggcgcggtgggcaa	5	6	20	10	7	1	0	1	0	0	0	2	1	1	0	0	6	2	2	0	6	2	0			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:228871654C>T	ENST00000366691.3	+	1	831	c.165C>T	c.(163-165)gtC>gtT	p.V55V		NM_021205.5	NP_067028.1			ras homolog family member U											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				GCGTGCTGGTCGGCGACGGCG	0.736																																						ENST00000366691.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13						c.(163-165)gtC>gtT		ras homolog family member U							19	22	21					1																	228871654		2194	4293	6487	SO:0001819	synonymous_variant	58480				regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding	g.chr1:228871654C>T		CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"Ryu GTPase", "Wnt-1 responsive Cdc42 homolog", "2310026M05Rik", "GTP-binding protein like 1", "CDC42-like GTPase", "GTP-binding protein SB128", "ras-like gene family member U"	606366	"ras homolog gene family, member U"	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.165C>T	1.37:g.228871654C>T							p.V55V	NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN			1	831	+	Breast(184;0.162)	Prostate(94;0.183)	55			Gly-rich.			Silent	SNP	ENST00000366691.3	37	c.165C>T	CCDS1575.1																																																																																				0.736	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092555.1	NM_021205		11	9	0	0	0	1	0	11	9					T	228871654	C	T	228871654	2	4	477	1	0	0	0	0	0	0	0	1	13345	871	31	2		2	RHOU	1	228871654	Silent	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08	5587513	228871654	20378967	7	31975											
PCNXL2	80003	broad.mit.edu	37	chr1	233394212	233394212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatccgtagccagaacactGattggtggataccctcgtct	10	10	10	11	2	1	3	0	1	1	2	3	4	2	4	3	2	3	1	3	2	3	3			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:233394212G>A	ENST00000258229.9	-	5	1630	c.1396C>T	c.(1396-1398)Cag>Tag	p.Q466*	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	466						integral component of membrane (GO:0016021)				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)				CCAGAACACTGATTGGTGGAT	0.572																																						ENST00000258229.8																			0				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						c.(1396-1398)Cag>Tag		pecanex-like 2 (Drosophila)							58	62	61					1																	233394212		1978	4159	6137	SO:0001587	stop_gained	80003					integral to membrane		g.chr1:233394212G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1396C>T	1.37:g.233394212G>A	ENSP00000258229:p.Gln466*					PCNXL2_ENST00000430153.1_5'UTR	p.Q466*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			5	1630	-		all_cancers(173;0.0347)|Prostate(94;0.137)	466					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Nonsense_Mutation	SNP	ENST00000258229.9	37	c.1396C>T	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	38	6.883467	0.97908	.	.	ENSG00000135749	ENST00000258229	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	18.8601	0.92268	0.0:0.0:1.0:0.0	.	.	.	.	X	466	.	ENSP00000258229:Q466X	Q	-	1	0	PCNXL2	231460835	0.998000	0.40836	0.401000	0.26359	0.044000	0.14063	4.788000	0.62439	2.682000	0.91365	0.655000	0.94253	CAG		0.572	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		11	11	0	0	0	1	0	11	11					A	233394212	G	A	233394212	4	1	477	1	0	0	0	0	0	1	0	0	11592	1299	45	3	5137	3	PCNXL2	1	233394212	Nonsense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	4522558	233394212	15856409	8	31976											
NCOA1	8648	broad.mit.edu	37	chr2	24990954	24990954	+	Intron	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttttgtaggacaagAagacagaagagttcttctct	11	16	8	6	0	3	4	0	0	3	4	4	5	3	5	0	1	0	2	0	1	4	7			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:24990954A>C	ENST00000406961.1	+	23	4807				NCOA1_ENST00000407230.1_Missense_Mutation_p.K1237Q|NCOA1_ENST00000395856.3_Intron|NCOA1_ENST00000405141.1_Missense_Mutation_p.K1388Q|NCOA1_ENST00000538539.1_Missense_Mutation_p.K1388Q|NCOA1_ENST00000348332.3_Intron|NCOA1_ENST00000288599.5_Missense_Mutation_p.K1388Q			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1						androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		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)					GTAGGACAAGAAGACAGAAGA	0.438			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(4162-4164)Aag>Cag		nuclear receptor coactivator 1							92	93	92					2																	24990954		2203	4300	6503	SO:0001627	intron_variant	8648							g.chr2:24990954A>C	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.4156-136A>C	2.37:g.24990954A>C						NCOA1_ENST00000395856.3_Intron|NCOA1_ENST00000538539.1_Missense_Mutation_p.K1388Q|NCOA1_ENST00000407230.1_Missense_Mutation_p.K1237Q|NCOA1_ENST00000348332.3_Intron|NCOA1_ENST00000406961.1_Intron|NCOA1_ENST00000288599.5_Missense_Mutation_p.K1388Q	p.K1388Q			Q15788	NCOA1_HUMAN			24	4873	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1388					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.4162A>C	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	A	0.595	-0.831530	0.02713	.	.	ENSG00000084676	ENST00000405141;ENST00000407230;ENST00000538539;ENST00000288599	T;T;T;T	0.01685	4.82;4.69;4.82;4.82	5.74	5.74	0.90152	.	.	.	.	.	T	0.01558	0.0050	N	0.00436	-1.5	0.21184	N	0.999769	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.981	T	0.57271	-0.7840	9	0.02654	T	1	.	14.2767	0.66184	1.0:0.0:0.0:0.0	.	1388;1237	Q15788-2;B5MCN7	.;.	Q	1388;1237;1388;1388	ENSP00000385097:K1388Q;ENSP00000385195:K1237Q;ENSP00000444039:K1388Q;ENSP00000288599:K1388Q	ENSP00000288599:K1388Q	K	+	1	0	NCOA1	24844458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.896000	0.69822	2.194000	0.70268	0.460000	0.39030	AAG		0.438	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		31	97	0	0	0	1	0	31	97					C	24990954	A	C	24990954	1	2	477	0	1	0	0	0	0	0	0	0	10228	247	9	5		5	NCOA1	2	24990954	Intron	SNP	A	TCGA-ZG-A8QY-01A-11D-A377-08		24990954	218208419	9	31977											
IFT172	26160	broad.mit.edu	37	chr2	27680743	27680756	+	Frame_Shift_Del	DEL	CTGGATGGTGCTTC	CTGGATGGTGCTTC	-																															gtgtgtatcactgaggagatCtggatggtgcttccctacca																								rs61747068	byFrequency	TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:27680743_27680756delCTGGATGGTGCTTC	ENST00000260570.3	-	28	3166_3179	c.3063_3076delGAAGCACCATCCAG	c.(3061-3078)gggaagcaccatccagatfs	p.KHHPD1022fs		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1022					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				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)					CTGAGGAGATCTGGATGGTGCTTCCCTACCAGGC	0.514																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(3061-3078)ggatfs		intraflagellar transport 172 homolog (Chlamydomonas)																																				SO:0001589	frameshift_variant	26160				cilium assembly	cilium	binding	g.chr2:27680743_27680756delCTGGATGGTGCTTC	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3063_3076delGAAGCACCATCCAG	2.37:g.27680743_27680756delCTGGATGGTGCTTC	ENSP00000260570:p.Lys1022fs						p.GKHHPD1021fs	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			28	3166_3179	-	Acute lymphoblastic leukemia(172;0.155)		1021					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Frame_Shift_Del	DEL	ENST00000260570.3	37	c.3063_3076delGAAGCACCATCCAG	CCDS1755.1																																																																																				0.514	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		9	56						9	56	---	---	---	---	-	27680756	CTGGATGGTGCTTC	-	27680743	7	5	477	1	0	1	0	1	0	0	0	0	7557	913	32	0	2257	0	IFT172	2	27680743	Frame_Shift_Del	DEL	CTGGATGGTGCTTC	TCGA-ZG-A8QY-01A-11D-A377-08	2689789	27680743	215518630	10	31978											
ARHGAP15	55843	broad.mit.edu	37	chr2	144381721	144381721	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaagctgaatttggaCgacagccagtgggaggacat	14	6	15	6	1	0	2	0	1	0	1	0	8	0	5	1	3	2	1	1	3	3	1	rs138120208	byFrequency	TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:144381721C>T	ENST00000295095.6	+	12	1190	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	341	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAATTTGGACGACAGCCAGT	0.448																																						ENST00000295095.6																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(1021-1023)gaC>gaT		Rho GTPase activating protein 15		C		0,4406		0,0,2203	89	85	86		1023	4.4	1	2	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARHGAP15	NM_018460.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		341/476	144381721	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144381721C>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1023C>T	2.37:g.144381721C>T							p.D341D	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	12	1190	+			341			Rho-GAP.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	c.1023C>T	CCDS2184.1																																																																																				0.448	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		19	54	0	0	0	1	0	19	54					T	144381721	C	T	144381721	2	4	477	1	0	0	0	0	0	0	0	1	866	535	19	1		1	ARHGAP15	2	144381721	Silent	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08	116700978	144381721	98817652	11	31979											
TANK	10010	broad.mit.edu	37	chr2	162091959	162091959	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattctgtcaagcagtttTcccaccatccattacatcca	11	13	4	13	0	2	1	1	1	1	0	5	1	5	1	4	0	2	2	4	0	3	4			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:162091959T>C	ENST00000392749.2	+	8	1447	c.1208T>C	c.(1207-1209)tTc>tCc	p.F403S	TANK_ENST00000259075.2_Missense_Mutation_p.F403S|TANK_ENST00000405852.1_3'UTR|AC009299.2_ENST00000421122.2_RNA|AC009299.2_ENST00000445372.1_RNA	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	403					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CAAGCAGTTTTCCCACCATCC	0.433																																						ENST00000392749.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						c.(1207-1209)tTc>tCc		TRAF family member-associated NFKB activator							135	130	132					2																	162091959		2203	4300	6503	SO:0001583	missense	10010					cytosol	metal ion binding|protein binding	g.chr2:162091959T>C	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.1208T>C	2.37:g.162091959T>C	ENSP00000376505:p.Phe403Ser					AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000405852.1_3'UTR|TANK_ENST00000259075.2_Missense_Mutation_p.F403S|AC009299.2_ENST00000421122.2_RNA	p.F403S	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN			8	1447	+			403					D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	c.1208T>C	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.902863	0.92035	.	.	ENSG00000136560	ENST00000259075;ENST00000392749;ENST00000439442	T;T;T	0.36520	1.62;1.62;1.25	5.98	5.98	0.97165	.	0.106594	0.64402	D	0.000005	T	0.37679	0.1012	L	0.27053	0.805	0.80722	D	1	P	0.50710	0.938	P	0.49140	0.601	T	0.24119	-1.0169	10	0.87932	D	0	-1.0782	16.4696	0.84102	0.0:0.0:0.0:1.0	.	403	Q92844	TANK_HUMAN	S	403;403;176	ENSP00000259075:F403S;ENSP00000376505:F403S;ENSP00000387439:F176S	ENSP00000259075:F403S	F	+	2	0	TANK	161800205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.505000	0.66981	2.289000	0.77006	0.482000	0.46254	TTC		0.433	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		30	71	0	0	0	1	0	30	71					C	162091959	T	C	162091959	3	2	477	1	0	0	0	0	1	0	0	0	15543	1783	62	4	1267	4	TANK	2	162091959	Missense_Mutation	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08	17710238	162091959	81107414	12	31980											
GAD1	2571	broad.mit.edu	37	chr2	171700581	171700581	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatgaaattgcaccagtgtTtgtcctcatggaacaaataa	15	12	7	7	0	1	1	1	1	0	0	2	2	2	2	2	1	2	2	2	1	5	4			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:171700581T>C	ENST00000358196.3	+	7	1215	c.665T>C	c.(664-666)tTt>tCt	p.F222S	GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	222					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						GCACCAGTGTTTGTCCTCATG	0.368																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(664-666)tTt>tCt		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						194	197	196					2																	171700581		2203	4300	6503	SO:0001583	missense	2571				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	g.chr2:171700581T>C		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.665T>C	2.37:g.171700581T>C	ENSP00000350928:p.Phe222Ser					GAD1_ENST00000429023.1_3'UTR	p.F222S	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			7	1215	+			222					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.665T>C	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.291724	0.80914	.	.	ENSG00000128683	ENST00000358196	T	0.37235	1.21	6.17	6.17	0.99709	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75408	-0.3328	10	0.87932	D	0	-14.5475	16.8222	0.85835	0.0:0.0:0.0:1.0	.	222	Q99259	DCE1_HUMAN	S	222	ENSP00000350928:F222S	ENSP00000350928:F222S	F	+	2	0	GAD1	171408827	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.633000	0.83260	2.371000	0.80710	0.533000	0.62120	TTT		0.368	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			9	22	0	0	0	1	0	9	22					C	171700581	T	C	171700581	3	2	477	1	0	0	0	0	1	0	0	0	6179	1841	64	4	728	4	GAD1	2	171700581	Missense_Mutation	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08	9608622	171700581	71498792	13	31981											
ADAM23	8745	broad.mit.edu	37	chr2	207414876	207414876	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacttatgattgttaatgatCacaaaacggtaagaatatag	18	12	7	4	1	1	3	1	2	0	1	1	3	1	3	0	1	2	2	0	1	9	6			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:207414876C>G	ENST00000264377.3	+	9	1253	c.925C>G	c.(925-927)Cac>Gac	p.H309D	ADAM23_ENST00000374416.1_Missense_Mutation_p.H309D|ADAM23_ENST00000374415.3_Missense_Mutation_p.H309D	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	309	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGTTAATGATCACAAAACGGT	0.269																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(925-927)Cac>Gac		ADAM metallopeptidase domain 23							69	71	71					2																	207414876		2203	4297	6500	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207414876C>G	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.925C>G	2.37:g.207414876C>G	ENSP00000264377:p.His309Asp					ADAM23_ENST00000374415.3_Missense_Mutation_p.H309D|ADAM23_ENST00000374416.1_Missense_Mutation_p.H309D	p.H309D	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	9	1253	+			309			Peptidase M12B.		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.925C>G	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574942	0.86542	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.09911	2.93;2.93;2.93	5.86	5.86	0.93980	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.56097	D	0.000023	T	0.33962	0.0881	M	0.62154	1.92	0.80722	D	1	D	0.65815	0.995	D	0.74023	0.982	T	0.00414	-1.1754	10	0.87932	D	0	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	309	O75077	ADA23_HUMAN	D	309;309;203;309	ENSP00000264377:H309D;ENSP00000363537:H309D;ENSP00000363536:H309D	ENSP00000264377:H309D	H	+	1	0	ADAM23	207123121	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.879000	0.75572	2.937000	0.99478	0.650000	0.86243	CAC		0.269	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		10	24	0	0	0	1	0	10	24					G	207414876	C	G	207414876	3	3	477	1	0	0	0	0	1	0	0	0	245	826	29	5	959	5	ADAM23	2	207414876	Missense_Mutation	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08	35714295	207414876	35784497	14	31982											
SPHKAP	80309	broad.mit.edu	37	chr2	228883123	228883123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcgggcactctgtgactaCgtgataattgtgactgcagc	10	11	11	9	2	1	3	0	3	1	0	2	3	1	3	0	1	3	2	0	1	3	3	rs201425414		TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:228883123C>T	ENST00000392056.3	-	7	2493	c.2447G>A	c.(2446-2448)cGt>cAt	p.R816H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R816H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	816						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			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)		TCTGTGACTACGTGATAATTG	0.458																																						ENST00000392056.3																			0				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						c.(2446-2448)cGt>cAt		SPHK1 interactor, AKAP domain containing							622	588	600					2																	228883123		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883123C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2447G>A	2.37:g.228883123C>T	ENSP00000375909:p.Arg816His					SPHKAP_ENST00000344657.5_Missense_Mutation_p.R816H	p.R816H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2493	-		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)	816					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2447G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	0.040	-1.286994	0.01387	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11495	2.77;2.77	5.97	-0.0112	0.13993	.	0.912315	0.09679	N	0.769986	T	0.04182	0.0116	N	0.14661	0.345	0.09310	N	1	B;P	0.39782	0.408;0.688	B;B	0.32805	0.037;0.153	T	0.37009	-0.9724	10	0.15066	T	0.55	.	3.8035	0.08767	0.2036:0.5084:0.0915:0.1966	.	816;816	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	H	816	ENSP00000375909:R816H;ENSP00000339886:R816H	ENSP00000339886:R816H	R	-	2	0	SPHKAP	228591367	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.262000	0.08682	-0.116000	0.11893	-0.797000	0.03246	CGT		0.458	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		94	255	0	0	0	1	0	94	255					T	228883123	C	T	228883123	3	4	477	1	0	0	0	0	1	0	0	0	15047	536	19	1	2679	1	SPHKAP	2	228883123	Missense_Mutation	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08	21468247	228883123	14316250	15	31983											
GAP43	2596	broad.mit.edu	37	chr3	115394932	115394932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagataaagctcataaggccGcaaccaaaattcaggctagc	17	6	8	10	1	2	1	2	0	0	1	2	1	2	1	2	2	3	3	2	2	8	4			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr3:115394932G>A	ENST00000305124.6	+	2	469	c.103G>A	c.(103-105)Gca>Aca	p.A35T	GAP43_ENST00000393780.3_Missense_Mutation_p.A71T	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	35	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		TCATAAGGCCGCAACCAAAAT	0.408																																						ENST00000393780.3																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(211-213)Gca>Aca		growth associated protein 43							91	94	93					3																	115394932		2203	4300	6503	SO:0001583	missense	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115394932G>A		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"neuron growth-associated protein 43", "neuromodulin", "nerve growth-related peptide GAP43", "axonal membrane protein GAP-43", "protein F1", "calmodulin-binding protein P-57", "neural phosphoprotein B-50"	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.103G>A	3.37:g.115394932G>A	ENSP00000305010:p.Ala35Thr					GAP43_ENST00000305124.6_Missense_Mutation_p.A35T	p.A71T	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	3	679	+			35					A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	c.211G>A	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847855	0.91277	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.45276	0.9;0.9	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.71871	0.3391	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78924	-0.2012	10	0.87932	D	0	-9.1987	18.3081	0.90189	0.0:0.0:1.0:0.0	.	71;35	A8K0Y4;P17677	.;NEUM_HUMAN	T	35;71	ENSP00000305010:A35T;ENSP00000377372:A71T	ENSP00000305010:A35T	A	+	1	0	GAP43	116877622	1.000000	0.71417	0.969000	0.41365	0.992000	0.81027	9.196000	0.94978	2.618000	0.88619	0.563000	0.77884	GCA		0.408	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		12	51	0	0	0	1	0	12	51					A	115394932	G	A	115394932	3	1	477	1	0	0	0	0	1	0	0	0	6235	1087	38	1	251	1	GAP43	3	115394932	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08		115394932	82627498	16	31984											
CP	1356	broad.mit.edu	37	chr3	148916153	148916153	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttttccccagttggacttaCctgtctcccatttgcatgta	6	17	6	12	0	1	0	0	0	1	0	3	1	2	1	4	1	2	3	4	1	2	6			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr3:148916153C>G	ENST00000264613.6	-	9	1976		c.e9+1		CP_ENST00000462336.1_Splice_Site	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)						cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			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)	GTTGGACTTACCTGTCTCCCA	0.338																																						ENST00000264613.6																			0				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						c.e9+1		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						90	85	87					3																	148916153		2203	4300	6503	SO:0001630	splice_region_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148916153C>G	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1713+1G>C	3.37:g.148916153C>G						CP_ENST00000462336.1_Splice_Site		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		9	1976	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)						Q14063|Q2PP18|Q9UKS4	Splice_Site	SNP	ENST00000264613.6	37		CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522984	0.64747	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4968	0.87719	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CP	150398843	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	4.541000	0.60670	2.573000	0.86826	0.650000	0.86243	.		0.338	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	Intron	13	32	0	0	0	1	0	13	32					G	148916153	C	G	148916153	5	3	477	1	0	0	0	0	0	0	1	0	3787	521	18	5	1527	5	CP	3	148916153	Splice_Site	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08	33521221	148916153	49106277	17	31985											
C4orf14	84273	broad.mit.edu	37	chr4	57842862	57842862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcggcggattcggattctccCcgtcctgtggctcgtccttg	2	13	12	14	5	1	0	0	0	1	0	7	2	3	2	4	4	0	1	4	4	0	3			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr4:57842862C>A	ENST00000264230.4	-	1	2127	c.890G>T	c.(889-891)gGg>gTg	p.G297V	POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000431623.2_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	297	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										CGGATTCTCCCCGTCCTGTGG	0.677																																						ENST00000264230.4																			0											c.(889-891)gGg>gTg		nitric oxide associated 1							38	38	38					4																	57842862		2203	4300	6503	SO:0001583	missense	84273						GTP binding	g.chr4:57842862C>A	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"nitric oxide synthase, mitochondrial (putative)", "mitochondrial GTPase 3 homolog (S. cerevisiae)"	614919	"chromosome 4 open reading frame 14"	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.890G>T	4.37:g.57842862C>A	ENSP00000264230:p.Gly297Val						p.G297V	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			1	2127	-			297					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.890G>T	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	C	2.722	-0.266383	0.05754	.	.	ENSG00000084092	ENST00000264230	T	0.28666	1.6	3.54	-4.98	0.03019	.	2.263710	0.01747	N	0.029718	T	0.18130	0.0435	L	0.36672	1.1	0.09310	N	0.999995	B	0.17038	0.02	B	0.08055	0.003	T	0.11324	-1.0592	10	0.12766	T	0.61	.	1.5597	0.02592	0.1393:0.2041:0.3686:0.288	.	297	Q8NC60	CD014_HUMAN	V	297	ENSP00000264230:G297V	ENSP00000264230:G297V	G	-	2	0	C4orf14	57537619	.	.	0.000000	0.03702	0.048000	0.14542	.	.	-1.353000	0.02191	0.555000	0.69702	GGG		0.677	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		4	29	1	0	0.000157383	1	0.000169647	4	29					A	57842862	C	A	57842862	3	1	477	1	0	0	0	0	1	0	0	0	2251	623	22	5	1234	5	C4orf14	4	57842862	Missense_Mutation	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08		57842862	133311414	18	31986											
FNIP1	96459	broad.mit.edu	37	chr5	131008040	131008040	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgtttcctctgttgactcTaagcctgactctgacaatgc	8	14	7	12	0	3	3	0	3	3	0	4	3	4	3	2	0	2	2	2	0	2	3			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr5:131008040T>C	ENST00000510461.1	-	14	2192	c.2097A>G	c.(2095-2097)ttA>ttG	p.L699L	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.L654L|FNIP1_ENST00000307968.7_Silent_p.L671L	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	699					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CTGTTGACTCTAAGCCTGACT	0.428																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2011-2013)ttA>ttG		folliculin interacting protein 1							228	211	216					5																	131008040		2203	4300	6503	SO:0001819	synonymous_variant	96459							g.chr5:131008040T>C	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.2097A>G	5.37:g.131008040T>C						FNIP1_ENST00000510461.1_Silent_p.L699L|FNIP1_ENST00000307954.8_Silent_p.L654L|FNIP1_ENST00000514667.1_Intron	p.L671L	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	13	2012	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Silent	SNP	ENST00000510461.1	37	c.2013A>G	CCDS34227.1																																																																																				0.428	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		56	148	0	0	0	1	0	56	148					C	131008040	T	C	131008040	2	2	477	1	0	0	0	0	0	0	0	1	5975	1519	53	4		4	FNIP1	5	131008040	Silent	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08		131008040	49907220	19	31987											
MYOT	9499	broad.mit.edu	37	chr5	137219277	137219277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtgcagctggatgtcCttggtaagcctccaaagaga	10	10	11	10	0	1	1	1	0	0	1	3	3	3	2	3	2	3	3	3	2	2	2			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr5:137219277C>A	ENST00000239926.4	+	7	1395	c.1021C>A	c.(1021-1023)Ctt>Att	p.L341I	RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.L226I|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000509812.1_Intron|MYOT_ENST00000421631.2_Missense_Mutation_p.L157I	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	341	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTGGATGTCCTTGGTAAGCC	0.413																																						ENST00000239926.4																			0				cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(1021-1023)Ctt>Att		myotilin							61	59	60					5																	137219277		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137219277C>A	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"Immunoglobulin superfamily / I-set domain containing"	12399	protein-coding gene	gene with protein product		604103	"titin immunoglobulin domain protein (myotilin)", "limb-girdle muscular dystrophy 1A (autosomal dominant)"	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.1021C>A	5.37:g.137219277C>A	ENSP00000239926:p.Leu341Ile					MYOT_ENST00000421631.2_Missense_Mutation_p.L157I|MYOT_ENST00000515645.1_Missense_Mutation_p.L226I|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|RP11-381K20.2_ENST00000508281.2_RNA	p.L341I	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		7	1395	+			341			Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.1021C>A	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	C	4.543	0.100833	0.08731	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.74106	-0.81;-0.81;-0.81	5.01	3.22	0.36961	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000050	T	0.51839	0.1698	N	0.16166	0.38	0.32482	N	0.541402	B	0.09022	0.002	B	0.04013	0.001	T	0.49153	-0.8969	10	0.16896	T	0.51	.	7.4958	0.27487	0.4467:0.472:0.0:0.0812	.	341	Q9UBF9	MYOTI_HUMAN	I	341;157;226	ENSP00000239926:L341I;ENSP00000391185:L157I;ENSP00000426281:L226I	ENSP00000239926:L341I	L	+	1	0	MYOT	137247176	0.026000	0.19158	0.997000	0.53966	0.992000	0.81027	0.364000	0.20325	0.616000	0.30141	0.655000	0.94253	CTT		0.413	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		3	28	1	0	0.150653	1	0.152491	3	28					A	137219277	C	A	137219277	3	1	477	1	0	0	0	0	1	0	0	0	10094	681	24	5	1043	5	MYOT	5	137219277	Missense_Mutation	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08	6211237	137219277	43695983	20	31988											
PCDHA12	56137	broad.mit.edu	37	chr5	140256423	140256423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacaatgcgcctgcgttcGcgcagcccgagtacacagtg	9	6	12	14	6	0	0	0	0	0	0	1	2	0	0	2	0	4	3	2	0	2	2			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr5:140256423G>A	ENST00000398631.2	+	1	1366	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	456	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A456T(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGCGTTCGCGCAGCCCGA	0.662																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			1	Substitution - Missense(1)	p.A456T(1)	endometrium(1)	NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1366-1368)Gcg>Acg									102	103	102					5																	140256423		2203	4300	6503	SO:0001583	missense	0							g.chr5:140256423G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1366G>A	5.37:g.140256423G>A	ENSP00000381628:p.Ala456Thr					PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.A456T	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1366	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1366G>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308853	0.23821	.	.	ENSG00000251664	ENST00000398631	T	0.01359	4.98	4.92	4.04	0.47022	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.00815	0.0027	N	0.04994	-0.135	0.09310	N	0.999996	P;B	0.40266	0.71;0.152	B;B	0.32090	0.14;0.116	T	0.54173	-0.8333	9	0.33141	T	0.24	.	7.4859	0.27432	0.1218:0.2814:0.5969:0.0	.	456;456	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	T	456	ENSP00000381628:A456T	ENSP00000381628:A456T	A	+	1	0	PCDHA12	140236607	0.000000	0.05858	0.990000	0.47175	0.616000	0.37450	-1.270000	0.02831	1.196000	0.43129	0.650000	0.86243	GCG		0.662	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		36	114	0	0	0	1	0	36	114					A	140256423	G	A	140256423	3	1	477	1	0	0	0	0	1	0	0	0	11522	1087	38	1	1368	1	PCDHA12	5	140256423	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	3037146	140256423	40658837	21	31989											
FABP6	2172	broad.mit.edu	37	chr5	159656578	159656578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcagcatggctttcaccgGcaagttcgagatggagagtg	10	8	14	9	2	1	2	1	0	0	2	2	4	1	2	1	3	2	5	1	3	1	2			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr5:159656578G>A	ENST00000402432.3	+	1	142	c.14G>A	c.(13-15)gGc>gAc	p.G5D	FABP6_ENST00000393980.4_Missense_Mutation_p.G54D|FABP6_ENST00000393982.1_Missense_Mutation_p.G54D	NM_001445.2	NP_001436.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	5					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.G54D(1)|p.G5D(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTTTCACCGGCAAGTTCGAG	0.537																																					Colon(29;562 677 12756 16385 20992)	ENST00000393980.4																			2	Substitution - Missense(2)	p.G54D(1)|p.G5D(1)	kidney(2)	breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(160-162)gGc>gAc		fatty acid binding protein 6, ileal							173	162	166					5																	159656578		2203	4300	6503	SO:0001583	missense	2172				bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	g.chr5:159656578G>A	U19869	CCDS4349.1, CCDS43393.1	5q23-q35	2013-03-01	2008-08-01		ENSG00000170231	ENSG00000170231		"Fatty acid binding protein family"	3561	protein-coding gene	gene with protein product	"illeal lipid-binding protein", "ileal bile acid binding protein", "gastrotropin"	600422				7894165, 7619861	Standard	NM_001130958		Approved	I-15P, ILLBP, I-BAP, ILBP3, I-BABP, ILBP, I-BALB	uc003lxx.1	P51161	OTTHUMG00000130329	ENST00000402432.3:c.14G>A	5.37:g.159656578G>A	ENSP00000385433:p.Gly5Asp					FABP6_ENST00000393982.1_Missense_Mutation_p.G54D|FABP6_ENST00000402432.3_Missense_Mutation_p.G5D	p.G54D	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	307	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	5					Q07DR7|Q8TBI3|Q9UGI7	Missense_Mutation	SNP	ENST00000402432.3	37	c.161G>A	CCDS4349.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.429828	0.83776	.	.	ENSG00000170231	ENST00000393980;ENST00000393982;ENST00000402432	T;T;T	0.75938	-0.98;-0.98;-0.98	5.41	5.41	0.78517	Calycin-like (1);Cytosolic fatty-acid binding (2);Calycin (1);	0.000000	0.85682	D	0.000000	D	0.88047	0.6332	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89944	0.4075	10	0.87932	D	0	-13.8827	16.6824	0.85296	0.0:0.0:1.0:0.0	.	5;54	P51161;P51161-2	FABP6_HUMAN;.	D	54;54;5	ENSP00000377549:G54D;ENSP00000377551:G54D;ENSP00000385433:G5D	ENSP00000377549:G54D	G	+	2	0	FABP6	159589156	1.000000	0.71417	0.910000	0.35882	0.821000	0.46438	7.492000	0.81482	2.520000	0.84964	0.561000	0.74099	GGC		0.537	FABP6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320505.2	NM_001040442		5	146	0	0	0	1	0	5	146					A	159656578	G	A	159656578	3	1	477	1	0	0	0	0	1	0	0	0	5361	1203	42	3	171	3	FABP6	5	159656578	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	19400155	159656578	21258682	22	31990											
RASGEF1C	255426	broad.mit.edu	37	chr5	179545631	179545631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcggctgctgtgggccGtcagggagcggtgggccgcc	2	8	18	13	4	2	0	1	0	1	0	4	1	2	1	3	5	2	2	3	5	0	0	rs369386547		TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr5:179545631G>A	ENST00000393371.2	-	9	1357	c.1061C>T	c.(1060-1062)aCg>aTg	p.T354M	RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.T203M|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.T354M			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	354	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGTGGGCCGTCAGGGAGCG	0.662																																						ENST00000393371.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(1060-1062)aCg>aTg		RasGEF domain family, member 1C		G	MET/THR	1,4403	2.1+/-5.4	0,1,2201	41	51	48		1061	4.2	0.9	5		48	1,8597		0,1,4298	no	missense	RASGEF1C	NM_175062.3	81	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	354/467	179545631	2,13000	2202	4299	6501	SO:0001583	missense	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179545631G>A	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.1061C>T	5.37:g.179545631G>A	ENSP00000377037:p.Thr354Met					RASGEF1C_ENST00000522500.1_Missense_Mutation_p.T203M|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.T354M	p.T354M			Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1357	-	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)	354			Ras-GEF.		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	37	c.1061C>T	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167200	0.57476	2.27E-4	1.16E-4	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.70986	-0.53;-0.53;0.58	4.18	4.18	0.49190	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.78259	0.4255	M	0.74881	2.28	0.58432	D	0.999998	P	0.52577	0.954	P	0.52514	0.701	T	0.80259	-0.1457	10	0.44086	T	0.13	.	15.9577	0.79898	0.0:0.0:1.0:0.0	.	354	Q8N431	RGF1C_HUMAN	M	354;354;203	ENSP00000354963:T354M;ENSP00000377037:T354M;ENSP00000429114:T203M	ENSP00000354963:T354M	T	-	2	0	RASGEF1C	179478237	1.000000	0.71417	0.878000	0.34440	0.228000	0.25075	6.994000	0.76251	2.268000	0.75426	0.313000	0.20887	ACG		0.662	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		25	46	0	0	0	1	0	25	46					A	179545631	G	A	179545631	3	1	477	1	0	0	0	0	1	0	0	0	13071	1145	40	1	359	1	RASGEF1C	5	179545631	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	19889053	179545631	1369629	23	31991											
HIST1H2AC	8334	broad.mit.edu	37	chr6	26124602	26124616	+	In_Frame_Del	DEL	GCGCCGGTGTACCTG	GCGCCGGTGTACCTG	-																															cagagcgggttggggcaggcGcgccggtgtacctggcggcg																								rs139293879|rs202165843|rs567371968		TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr6:26124602_26124616delGCGCCGGTGTACCTG	ENST00000602637.1	+	1	172_186	c.142_156delGCGCCGGTGTACCTG	c.(142-156)gcgccggtgtacctgdel	p.APVYL48del	HIST1H2BC_ENST00000314332.5_5'Flank|HIST1H2AC_ENST00000377791.2_In_Frame_Del_p.APVYL48del|HIST1H2BC_ENST00000396984.1_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	48						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						TGGGGCAGGCGCGCCGGTGTACCTGGCGGCGGTGT	0.66																																						ENST00000602637.1																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						c.(142-156)del		histone cluster 1, H2ac																																				SO:0001651	inframe_deletion	8334				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26124602_26124616delGCGCCGGTGTACCTG	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"Histones / Replication-dependent"	4733	protein-coding gene	gene with protein product		602794	"H2A histone family, member L", "histone 1, H2ac"	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.142_156delGCGCCGGTGTACCTG	6.37:g.26124602_26124616delGCGCCGGTGTACCTG	ENSP00000473534:p.Ala48_Leu52del					HIST1H2AC_ENST00000377791.2_In_Frame_Del_p.APVYL48del	p.APVYL48del			Q93077	H2A1C_HUMAN			1	172_186	+			48					B2R4F7|O00775|O00776|O00777|O00778|Q540R1	In_Frame_Del	DEL	ENST00000602637.1	37	c.142_156delGCGCCGGTGTACCTG	CCDS4585.1																																																																																				0.66	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		8	33						8	33	---	---	---	---	-	26124616	GCGCCGGTGTACCTG	-	26124602	7	5	477	1	0	1	0	1	0	0	0	0	7130	1087	38	0	144	0	HIST1H2AC	6	26124602	In_Frame_Del	DEL	GCGCCGGTGTACCTG	TCGA-ZG-A8QY-01A-11D-A377-08		26124602	144990465	24	31992											
ITPR3	3710	broad.mit.edu	37	chr6	33652628	33652628	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gggccaccaagttggtatgcGacctcatcaccagcaccaag	11	6	10	14	1	2	0	2	0	0	0	2	1	2	0	5	2	2	3	5	2	3	2			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr6:33652628G>C	ENST00000374316.5	+	40	6275	c.5215G>C	c.(5215-5217)Gac>Cac	p.D1739H	ITPR3_ENST00000605930.1_Missense_Mutation_p.D1739H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1739					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GTTGGTATGCGACCTCATCAC	0.627																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(5215-5217)Gac>Cac		inositol 1,4,5-trisphosphate receptor, type 3							79	75	76					6																	33652628		2203	4300	6503	SO:0001583	missense	3710				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	g.chr6:33652628G>C	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5215G>C	6.37:g.33652628G>C	ENSP00000363435:p.Asp1739His					ITPR3_ENST00000605930.1_Missense_Mutation_p.D1739H	p.D1739H			Q14573	ITPR3_HUMAN			40	6275	+			1739					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.5215G>C	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019005	0.93462	.	.	ENSG00000096433	ENST00000374316	D	0.91521	-2.86	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.94778	0.8314	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.93723	0.7034	10	0.49607	T	0.09	-45.2844	20.0263	0.97523	0.0:0.0:1.0:0.0	.	1739	Q14573	ITPR3_HUMAN	H	1739	ENSP00000363435:D1739H	ENSP00000363435:D1739H	D	+	1	0	ITPR3	33760606	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.731000	0.98807	2.735000	0.93741	0.655000	0.94253	GAC		0.627	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		13	54	0	0	0	1	0	13	54					C	33652628	G	C	33652628	3	2	477	1	0	0	0	0	1	0	0	0	7922	1058	37	5	5369	5	ITPR3	6	33652628	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	7528026	33652628	137462439	25	31993											
TDRD6	221400	broad.mit.edu	37	chr6	46658755	46658755	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaccagtaaaacttcagAagcctttggagtcctctgtt	12	11	8	10	0	2	2	1	0	1	2	3	3	3	3	3	1	2	2	3	1	4	4			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr6:46658755A>C	ENST00000316081.6	+	1	2890	c.2890A>C	c.(2890-2892)Aag>Cag	p.K964Q	TDRD6_ENST00000544460.1_Missense_Mutation_p.K964Q|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	964					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAAACTTCAGAAGCCTTTGGA	0.363																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2890-2892)Aag>Cag		tudor domain containing 6							63	70	68					6																	46658755		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46658755A>C	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2890A>C	6.37:g.46658755A>C	ENSP00000346065:p.Lys964Gln					TDRD6_ENST00000316081.6_Missense_Mutation_p.K964Q	p.K964Q	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	3144	+			964					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.2890A>C	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155404	0.57259	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15487	2.42;2.42	5.74	5.74	0.90152	.	0.356145	0.28641	N	0.014640	T	0.10809	0.0264	L	0.35723	1.085	0.37985	D	0.933729	P;P	0.47762	0.9;0.72	P;B	0.47430	0.547;0.345	T	0.13764	-1.0497	10	0.20519	T	0.43	-5.7383	16.0326	0.80588	1.0:0.0:0.0:0.0	.	964;964	F5H5M3;O60522	.;TDRD6_HUMAN	Q	964	ENSP00000443299:K964Q;ENSP00000346065:K964Q	ENSP00000346065:K964Q	K	+	1	0	TDRD6	46766714	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	6.996000	0.76263	2.185000	0.69588	0.528000	0.53228	AAG		0.363	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		25	58	0	0	0	1	0	25	58					C	46658755	A	C	46658755	3	2	477	1	0	0	0	0	1	0	0	0	15731	247	9	5	2892	5	TDRD6	6	46658755	Missense_Mutation	SNP	A	TCGA-ZG-A8QY-01A-11D-A377-08	13006127	46658755	124456312	26	31994											
FAM83B	222584	broad.mit.edu	37	chr6	54806506	54806506	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacccctgaaagaagacctActtcttctccaaggccaacg	12	9	6	14	1	2	3	0	1	2	2	3	3	2	3	5	1	3	0	5	1	6	4			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr6:54806506A>G	ENST00000306858.7	+	5	2853	c.2737A>G	c.(2737-2739)Act>Gct	p.T913A	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	913										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAGAAGACCTACTTCTTCTCC	0.463																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(2737-2739)Act>Gct		family with sequence similarity 83, member B							110	99	103					6																	54806506		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54806506A>G	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2737A>G	6.37:g.54806506A>G	ENSP00000304078:p.Thr913Ala						p.T913A	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	2853	+	Lung NSC(77;0.0178)|Renal(3;0.122)		913					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.2737A>G	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	A	2.059	-0.415895	0.04766	.	.	ENSG00000168143	ENST00000306858	T	0.06608	3.28	5.24	1.72	0.24424	.	2.791760	0.01197	N	0.007461	T	0.01061	0.0035	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42310	-0.9459	10	0.13108	T	0.6	-1.9391	1.6213	0.02713	0.2673:0.206:0.3927:0.134	.	913	Q5T0W9	FA83B_HUMAN	A	913	ENSP00000304078:T913A	ENSP00000304078:T913A	T	+	1	0	FAM83B	54914465	0.005000	0.15991	0.021000	0.16686	0.033000	0.12548	-0.014000	0.12656	0.552000	0.29026	0.533000	0.62120	ACT		0.463	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		20	45	0	0	0	1	0	20	45					G	54806506	A	G	54806506	3	3	477	1	0	0	0	0	1	0	0	0	5634	391	14	4	2751	4	FAM83B	6	54806506	Missense_Mutation	SNP	A	TCGA-ZG-A8QY-01A-11D-A377-08	8147751	54806506	116308561	27	31995											
TBP	6908	broad.mit.edu	37	chr6	170871022	170871022	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaacaacaacagcagcaGcagcagcagcagcagcaaca	18	0	9	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	9	0	0	4	0			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr6:170871022G>A	ENST00000392092.2	+	3	477	c.198G>A	c.(196-198)caG>caA	p.Q66Q	TBP_ENST00000540980.1_Silent_p.Q46Q|TBP_ENST00000230354.6_Silent_p.Q66Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	66	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			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)		aacagcagcagcagcagcagc	0.562																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(196-198)caG>caA		TATA box binding protein							26	30	28					6																	170871022		2191	4257	6448	SO:0001819	synonymous_variant	6908				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	g.chr6:170871022G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.198G>A	6.37:g.170871022G>A						TBP_ENST00000540980.1_Silent_p.Q46Q|TBP_ENST00000230354.6_Silent_p.Q66Q	p.Q66Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	477	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	66			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.198G>A	CCDS5315.1																																																																																				0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		8	34	0	0	0	1	0	8	34					A	170871022	G	A	170871022	2	1	477	1	0	0	0	0	0	0	0	1	15641	962	34	3		3	TBP	6	170871022	Silent	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	116064516	170871022	244045	28	31996											
RADIL	55698	broad.mit.edu	37	chr7	4876196	4876196	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccggggtcggggttcccttCgcgcgactccgctgcagcct	2	8	15	16	6	0	0	0	0	0	0	4	1	2	0	4	4	2	3	4	4	0	2			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr7:4876196C>T	ENST00000399583.3	-	3	763	c.576G>A	c.(574-576)gcG>gcA	p.A192A	RADIL_ENST00000536091.1_Silent_p.A192A|RADIL_ENST00000538469.1_5'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	192					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGGTTCCCTTCGCGCGACTCC	0.657																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(574-576)gcG>gcA		Ras association and DIL domains							17	24	22					7																	4876196		1997	4147	6144	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4876196C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.576G>A	7.37:g.4876196C>T						RADIL_ENST00000538469.1_5'UTR|RADIL_ENST00000536091.1_Silent_p.A192A	p.A192A	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	3	763	-		Ovarian(82;0.0175)	192					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.576G>A	CCDS43544.1																																																																																				0.657	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		3	18	0	0	0	1	0	3	18					T	4876196	C	T	4876196	2	4	477	1	0	0	0	0	0	0	0	1	12997	871	31	2		2	RADIL	7	4876196	Silent	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08		4876196	154262467	29	31997											
MUC17	140453	broad.mit.edu	37	chr7	100679721	100679721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagttcatctcctacacctgCtgaaggtaccagcatgccaa	11	9	7	14	0	2	1	1	1	1	0	3	1	2	1	4	1	5	4	4	1	4	3			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr7:100679721C>A	ENST00000306151.4	+	3	5088	c.5024C>A	c.(5023-5025)gCt>gAt	p.A1675D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1675	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTACACCTGCTGAAGGTACC	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5023-5025)gCt>gAt		mucin 17, cell surface associated							208	219	215					7																	100679721		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679721C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5024C>A	7.37:g.100679721C>A	ENSP00000302716:p.Ala1675Asp						p.A1675D	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5088	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1675			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5024C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	3.979	-0.006857	0.07773	.	.	ENSG00000169876	ENST00000306151	T	0.02177	4.41	0.932	0.932	0.19466	.	.	.	.	.	T	0.01558	0.0050	N	0.14661	0.345	0.09310	N	1	D	0.63046	0.992	P	0.45538	0.484	T	0.47407	-0.9120	9	0.12766	T	0.61	.	5.3368	0.15961	0.0:1.0:0.0:0.0	.	1675	Q685J3	MUC17_HUMAN	D	1675	ENSP00000302716:A1675D	ENSP00000302716:A1675D	A	+	2	0	MUC17	100466441	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	0.181000	0.16880	0.857000	0.35407	0.134000	0.15878	GCT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		61	186	1	0	9.53615e-21	1	1.13072e-20	61	186					A	100679721	C	A	100679721	3	1	477	1	0	0	0	0	1	0	0	0	9974	797	28	5	5034	5	MUC17	7	100679721	Missense_Mutation	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08	95803525	100679721	58458942	30	31998											
BRAF	673	broad.mit.edu	37	chr7	140481405	140481405	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcccttgtagactgttccaAatgatccagatccaattctt	10	15	5	11	0	1	3	0	1	1	2	5	3	5	3	4	0	0	2	4	0	3	6	rs397507473		TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr7:140481405A>C	ENST00000288602.6	-	11	1463	c.1403T>G	c.(1402-1404)tTt>tGt	p.F468C		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	468	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		F -> S (in CFC1). {ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:18042262}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F468S(1)|p.F468C(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GACTGTTCCAAATGATCCAGA	0.378		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																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	2	Substitution - Missense(2)	p.F468S(1)|p.F468C(1)	large_intestine(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	GRCh37	CM060881	BRAF	M		c.(1402-1404)tTt>tGt		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						172	148	156					7																	140481405		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	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	g.chr7:140481405A>C	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1403T>G	7.37:g.140481405A>C	ENSP00000288602:p.Phe468Cys						p.F468C	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			11	1463	-	Melanoma(164;0.00956)		468		F -> S (in CFC syndrome).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1403T>G	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.1|23.1	4.370078|4.370078	0.82573|0.82573	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.89681|.	-2.55|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.095786|.	0.85682|.	D|.	0.000000|.	T|T	0.74261|0.74261	0.3693|0.3693	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.68621|.	0.959|.	T|T	0.75124|0.75124	-0.3428|-0.3428	10|5	0.87932|.	D|.	0|.	.|.	14.394|14.394	0.66999|0.66999	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	468|.	P15056|.	BRAF_HUMAN|.	C|V	468|76	ENSP00000288602:F468C|.	ENSP00000288602:F468C|.	F|L	-|-	2|1	0|2	BRAF|BRAF	140127874|140127874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.339000|9.339000	0.96797|0.96797	2.130000|2.130000	0.65690|0.65690	0.477000|0.477000	0.44152|0.44152	TTT|TTG		0.378	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		12	57	0	0	0	1	0	12	57					C	140481405	A	C	140481405	3	2	477	1	0	0	0	0	1	0	0	0	1496	14	1	5	929	5	BRAF	7	140481405	Missense_Mutation	SNP	A	TCGA-ZG-A8QY-01A-11D-A377-08	39801684	140481405	18657258	31	31999											
MLL3	58508	broad.mit.edu	37	chr7	151860195	151860195	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgaattaattgatccttgTtgtatattctgctgctgtaa	9	18	9	5	0	1	2	0	2	1	0	2	2	2	2	1	1	2	5	1	1	5	8			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr7:151860195T>C	ENST00000262189.6	-	43	10685	c.10467A>G	c.(10465-10467)caA>caG	p.Q3489Q	KMT2C_ENST00000355193.2_Silent_p.Q3489Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3489	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGATCCTTGTTGTATATTCT	0.463																																						ENST00000355193.2																			0											c.(10465-10467)caA>caG		lysine (K)-specific methyltransferase 2C							138	138	138					7																	151860195		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151860195T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10467A>G	7.37:g.151860195T>C						KMT2C_ENST00000262189.6_Silent_p.Q3489Q	p.Q3489Q							43	10685	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.10467A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.438485	0.01098	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.18	-1.38	0.09027	.	.	.	.	.	T	0.64875	0.2638	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62642	-0.6811	4	.	.	.	.	13.3897	0.60816	0.0:0.6422:0.0:0.3578	.	.	.	.	A	995	.	.	T	-	1	0	MLL3	151491128	0.977000	0.34250	0.014000	0.15608	0.015000	0.08874	0.004000	0.13106	-0.244000	0.09639	-0.408000	0.06270	ACA		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			28	96	0	0	0	1	0	28	96					C	151860195	T	C	151860195	2	2	477	1	0	0	0	0	0	0	0	1	9622	1722	60	4		4	MLL3	7	151860195	Silent	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08	11378790	151860195	7278468	32	32000											
GLE1	2733	broad.mit.edu	37	chr9	131296231	131296231	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctttggaagactatcagagGtaaagttgtttttctcccta	10	15	9	7	0	2	2	1	0	1	2	3	3	2	3	1	2	0	4	1	2	5	7			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr9:131296231G>A	ENST00000309971.4	+	11	1752		c.e11+1		RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Splice_Site|GLE1_ENST00000372770.4_Splice_Site	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator						mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						ACTATCAGAGGTAAAGTTGTT	0.398																																						ENST00000309971.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						c.e11+1		GLE1 RNA export mediator							120	110	114					9																	131296231		2203	4300	6503	SO:0001630	splice_region_variant	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131296231G>A	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"GLE1 (yeast homolog)-like, RNA export mediator", "GLE1 RNA export mediator-like (yeast)", "GLE1 RNA export mediator (yeast)", "lethal congenital contracture syndrome 1", "GLE1 RNA export mediator homolog (yeast)"	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1646+1G>A	9.37:g.131296231G>A						GLE1_ENST00000372770.4_Splice_Site|RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Splice_Site		NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN			11	1752	+								O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Splice_Site	SNP	ENST00000309971.4	37		CCDS35154.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742607	0.89573	.	.	ENSG00000119392	ENST00000309971;ENST00000372770;ENST00000539582	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLE1	130336052	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.370000	0.97159	2.756000	0.94617	0.561000	0.74099	.		0.398	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722	Intron	24	43	0	0	0	1	0	24	43					A	131296231	G	A	131296231	5	1	477	1	0	0	0	0	0	0	1	0	6435	1275	44	3	1689	3	GLE1	9	131296231	Splice_Site	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08		131296231	9917200	33	32001											
PFKP	5214	broad.mit.edu	37	chr10	3177927	3177927	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttttaaaatcttttataGgaaaaaaatttaccaccgat	16	16	3	6	1	1	0	0	0	1	0	1	2	1	1	2	1	1	0	2	1	8	8			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr10:3177927G>A	ENST00000381125.4	+	21	2198		c.e21-1		PFKP_ENST00000381072.1_Splice_Site|PFKP_ENST00000381075.2_Splice_Site|PITRM1_ENST00000464395.1_5'Flank	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			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)		ATCTTTTATAGGAAAAAAATT	0.408																																						ENST00000381075.2																			0				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						c.e23-1		phosphofructokinase, platelet							44	47	46					10																	3177927		2203	4300	6503	SO:0001630	splice_region_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3177927G>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.2123-1G>A	10.37:g.3177927G>A						PFKP_ENST00000381125.4_Splice_Site|PFKP_ENST00000381072.1_Splice_Site		NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	23	2322	+								B3KS15|Q5VSR7|Q5VSR8	Splice_Site	SNP	ENST00000381125.4	37		CCDS7059.1	.	.	.	.	.	.	.	.	.	.	g	15.52	2.856998	0.51376	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072;ENST00000433193	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7878	0.91961	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PFKP	3167927	1.000000	0.71417	0.208000	0.23602	0.048000	0.14542	6.507000	0.73717	2.423000	0.82170	0.563000	0.77884	.		0.408	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627	Intron	11	44	0	0	0	1	0	11	44					A	3177927	G	A	3177927	5	1	477	1	0	0	0	0	0	0	1	0	11766	1014	35	3	2204	3	PFKP	10	3177927	Splice_Site	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08		3177927	132356820	34	32002											
ANUBL1	93550	broad.mit.edu	37	chr10	46113586	46113586	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctccagctcgccaacctGcctgcattcgtagctactag	7	11	7	16	2	1	0	0	0	1	0	4	0	1	0	4	0	6	4	4	0	4	5			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr10:46113586G>C	ENST00000344646.5	-	9	2264		c.e9+1		ZFAND4_ENST00000374366.3_Splice_Site|ZFAND4_ENST00000374370.1_Splice_Site|ZFAND4_ENST00000374371.2_Splice_Site	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4								zinc ion binding (GO:0008270)										TCGCCAACCTGCCTGCATTCG	0.408																																						ENST00000374366.3																			0											c.e10+1		zinc finger, AN1-type domain 4							66	67	67					10																	46113586		2203	4300	6503	SO:0001630	splice_region_variant	93550						zinc ion binding	g.chr10:46113586G>C	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"Zinc fingers, AN1-type domain containing"	23504	protein-coding gene	gene with protein product			"AN1, ubiquitin-like, homolog (Xenopus laevis)"	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.2048+1C>G	10.37:g.46113586G>C						ZFAND4_ENST00000374370.1_Splice_Site|ZFAND4_ENST00000374371.2_Splice_Site|ZFAND4_ENST00000344646.5_Splice_Site				Q86XD8	ANUB1_HUMAN			10	2292	-								A8K8V4|B2RAX2|Q5VVY5	Splice_Site	SNP	ENST00000344646.5	37		CCDS7214.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544099	0.65198	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	.	.	.	5.99	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1247	0.59346	0.077:0.0:0.923:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANUBL1	45433592	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.003000	0.57061	1.538000	0.49270	0.655000	0.94253	.		0.408	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890	Intron	12	29	0	0	0	1	0	12	29					C	46113586	G	C	46113586	5	2	477	1	0	0	0	0	0	0	1	0	713	1333	46	5	141	5	ANUBL1	10	46113586	Splice_Site	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	42935659	46113586	89421161	35	32003											
PCF11	51585	broad.mit.edu	37	chr11	82877752	82877752	+	Frame_Shift_Del	DEL	A	A	-																															aatctggttgggaagaaaatAaaaggtatgatgttaacatt																										TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr11:82877752delA	ENST00000298281.4	+	5	2265	c.1813delA	c.(1813-1815)aaafs	p.K605fs		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	605					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GGAAGAAAATAAAAGGTATGA	0.323																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(1813-1815)aafs		PCF11 cleavage and polyadenylation factor subunit							72	76	75					11																	82877752		1667	3595	5262	SO:0001589	frameshift_variant	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877752delA	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1813delA	11.37:g.82877752delA	ENSP00000298281:p.Lys605fs						p.K605fs	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			5	2265	+			605					A6H8W7|O43671|Q6P0X8	Frame_Shift_Del	DEL	ENST00000298281.4	37	c.1813delA	CCDS44689.1																																																																																				0.323	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		21	49						21	49	---	---	---	---	-	82877752	A	-	82877752	7	5	477	1	0	1	0	1	0	0	0	0	11573	363	13	0	1831	0	PCF11	11	82877752	Frame_Shift_Del	DEL	A	TCGA-ZG-A8QY-01A-11D-A377-08		82877752	52128764	36	32004											
DLG2	1740	broad.mit.edu	37	chr11	83676415	83676427	+	Frame_Shift_Del	DEL	TGGGTTTGCCAAC	TGGGTTTGCCAAC	-																															atcagtcatataaatggtagTgggtttgccaacttttaaat																								rs569113405|rs144952538		TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr11:83676415_83676427delTGGGTTTGCCAAC	ENST00000532653.1	-	8	1128_1140	c.826_838delGTTGGCAAACCCA	c.(826-840)gttggcaaacccactfs	p.VGKPT276fs	DLG2_ENST00000531015.1_Frame_Shift_Del_p.VGKPT243fs|DLG2_ENST00000376104.2_Frame_Shift_Del_p.VGKPT381fs|DLG2_ENST00000537455.1_Frame_Shift_Del_p.VGKPT30fs|DLG2_ENST00000524982.1_Frame_Shift_Del_p.VGKPT276fs|DLG2_ENST00000330014.6_Frame_Shift_Del_p.VGKPT215fs|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000280241.8_Frame_Shift_Del_p.VGKPT315fs|DLG2_ENST00000543673.1_Frame_Shift_Del_p.VGKPT381fs|DLG2_ENST00000418306.2_Frame_Shift_Del_p.VGKPT225fs|DLG2_ENST00000398309.2_Frame_Shift_Del_p.VGKPT276fs|DLG2_ENST00000398301.2_Frame_Shift_Del_p.VGKPT315fs			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	239	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TAAATGGTAGTGGGTTTGCCAACTTTTAAATAA	0.371																																						ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(826-840)ctfs		discs, large homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83676415_83676427delTGGGTTTGCCAAC	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.826_838delGTTGGCAAACCCA	11.37:g.83676415_83676427delTGGGTTTGCCAAC	ENSP00000435849:p.Val276fs					DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Frame_Shift_Del_p.VGKPT30fs|DLG2_ENST00000330014.6_Frame_Shift_Del_p.VGKPT215fs|DLG2_ENST00000532653.1_Frame_Shift_Del_p.VGKPT276fs|DLG2_ENST00000524982.1_Frame_Shift_Del_p.VGKPT276fs|DLG2_ENST00000531015.1_Frame_Shift_Del_p.VGKPT243fs|DLG2_ENST00000280241.8_Frame_Shift_Del_p.VGKPT315fs|DLG2_ENST00000418306.2_Frame_Shift_Del_p.VGKPT225fs|DLG2_ENST00000376104.2_Frame_Shift_Del_p.VGKPT381fs|DLG2_ENST00000543673.1_Frame_Shift_Del_p.VGKPT381fs|DLG2_ENST00000398301.2_Frame_Shift_Del_p.VGKPT315fs	p.VGKPT276fs	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			8	1296_1308	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	276			PDZ 2.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Frame_Shift_Del	DEL	ENST00000532653.1	37	c.826_838delGTTGGCAAACCCA																																																																																					0.371	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		12	82						12	82	---	---	---	---	-	83676427	TGGGTTTGCCAAC	-	83676415	7	5	477	1	0	1	0	1	0	0	0	0	4555	1696	59	0	1888	0	DLG2	11	83676415	Frame_Shift_Del	DEL	TGGGTTTGCCAAC	TCGA-ZG-A8QY-01A-11D-A377-08	798663	83676415	51330101	37	32005											
DDX6	1656	broad.mit.edu	37	chr11	118635928	118635928	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcttacctgtatcatcaAgcctcattatgtcatctcgt	9	17	4	11	1	6	0	4	0	2	0	7	0	6	0	2	0	2	1	2	0	4	4			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr11:118635928A>C	ENST00000526070.2	-	6	995	c.635T>G	c.(634-636)cTt>cGt	p.L212R	DDX6_ENST00000534980.1_Missense_Mutation_p.L212R|DDX6_ENST00000264018.4_Missense_Mutation_p.L212R	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	212	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			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)		TGTATCATCAAGCCTCATTAT	0.368			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.(634-636)cTt>cGt		DEAD (Asp-Glu-Ala-Asp) box helicase 6							347	337	340					11																	118635928		1873	4109	5982	SO:0001583	missense	1656				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	g.chr11:118635928A>C	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"DEAD-boxes"	2747	protein-coding gene	gene with protein product		600326	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.635T>G	11.37:g.118635928A>C	ENSP00000433704:p.Leu212Arg					DDX6_ENST00000534980.1_Missense_Mutation_p.L212R|DDX6_ENST00000526070.2_Missense_Mutation_p.L212R	p.L212R	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	6	940	-	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)	212			Helicase ATP-binding.		Q5D048	Missense_Mutation	SNP	ENST00000526070.2	37	c.635T>G	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537608	0.85917	.	.	ENSG00000110367	ENST00000264018;ENST00000534980;ENST00000526070	T;T;T	0.22743	1.94;1.94;1.94	5.7	5.7	0.88788	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.110302	0.64402	D	0.000006	T	0.55497	0.1924	M	0.91459	3.21	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.66528	-0.5901	10	0.87932	D	0	.	15.6892	0.77436	1.0:0.0:0.0:0.0	.	212	P26196	DDX6_HUMAN	R	212	ENSP00000264018:L212R;ENSP00000442266:L212R;ENSP00000433704:L212R	ENSP00000264018:L212R	L	-	2	0	DDX6	118141138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.327000	0.96396	2.177000	0.69029	0.524000	0.50904	CTT		0.368	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		62	166	0	0	0	1	0	62	166					C	118635928	A	C	118635928	3	2	477	1	0	0	0	0	1	0	0	0	4377	72	3	5	848	5	DDX6	11	118635928	Missense_Mutation	SNP	A	TCGA-ZG-A8QY-01A-11D-A377-08	34959513	118635928	16370588	38	32006											
KIRREL3	84623	broad.mit.edu	37	chr11	126326257	126326257	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcacctgtactgggtgaCagctgggttggcctttgcag	5	12	13	11	0	1	1	1	1	1	0	2	1	1	1	2	3	3	4	2	3	1	3			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr11:126326257C>A	ENST00000525144.2	-	7	1084	c.835G>T	c.(835-837)Gtc>Ttc	p.V279F	KIRREL3_ENST00000525704.2_Missense_Mutation_p.V279F|KIRREL3_ENST00000529097.2_Missense_Mutation_p.V279F	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	279	Ig-like C2-type 3.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TACTGGGTGACAGCTGGGTTG	0.642																																						ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(835-837)Gtc>Ttc		kin of IRRE like 3 (Drosophila)							53	60	58					11																	126326257		2057	4193	6250	SO:0001583	missense	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126326257C>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.835G>T	11.37:g.126326257C>A	ENSP00000435466:p.Val279Phe					KIRREL3_ENST00000529097.2_Missense_Mutation_p.V279F|KIRREL3_ENST00000525704.2_Missense_Mutation_p.V279F	p.V279F	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	7	1084	-	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)	279			Ig-like C2-type 3.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	c.835G>T	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906576	0.92107	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.15487	2.42;2.42;2.42	5.35	5.35	0.76521	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	L	0.58101	1.795	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.998	D;D;D	0.83275	0.996;0.992;0.978	T	0.13335	-1.0513	10	0.62326	D	0.03	.	18.0585	0.89370	0.0:1.0:0.0:0.0	.	279;279;279	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	F	279	ENSP00000435466:V279F;ENSP00000434081:V279F;ENSP00000435094:V279F	ENSP00000435466:V279F	V	-	1	0	KIRREL3	125831467	1.000000	0.71417	0.980000	0.43619	0.990000	0.78478	5.663000	0.68038	2.512000	0.84698	0.442000	0.29010	GTC		0.642	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		3	10	1	0	0.004672	1	0.0048472	3	10					A	126326257	C	A	126326257	3	1	477	1	0	0	0	0	1	0	0	0	8326	478	17	5	1652	5	KIRREL3	11	126326257	Missense_Mutation	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08	7690329	126326257	8680259	39	32007											
C1RL	51279	broad.mit.edu	37	chr12	7254578	7254578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtgcggaaggtcagccGcaaactcctccctgaggata	9	8	12	12	2	1	1	1	1	0	0	3	3	3	3	3	3	3	1	3	3	3	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr12:7254578G>A	ENST00000266542.4	-	3	498	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	C1RL_ENST00000544702.1_Missense_Mutation_p.R136W|C1RL_ENST00000545280.1_Intron|C1RL_ENST00000545337.1_Missense_Mutation_p.R136W	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	136	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAGGTCAGCCGCAAACTCCTC	0.607													G|||	1	0.000199681	0	0	5008	,	,		-128	0		0	False		,,,				2504	0.001					ENST00000266542.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(406-408)Cgg>Tgg		complement component 1, r subcomponent-like							113	105	108					12																	7254578		2203	4300	6503	SO:0001583	missense	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7254578G>A	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.406C>T	12.37:g.7254578G>A	ENSP00000266542:p.Arg136Trp					C1RL_ENST00000545280.1_Intron|C1RL_ENST00000545337.1_Missense_Mutation_p.R136W|C1RL_ENST00000544702.1_Missense_Mutation_p.R136W	p.R136W	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN			3	498	-			136			CUB.		Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	37	c.406C>T	CCDS8573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.86|15.86	2.958485|2.958485	0.53400|0.53400	.|.	.|.	ENSG00000139178|ENSG00000139178	ENST00000534950|ENST00000266542;ENST00000396661;ENST00000544702;ENST00000543933;ENST00000545337	.|T;T;T;T	.|0.28895	.|1.59;1.59;1.59;1.59	3.76|3.76	2.83|2.83	0.33086|0.33086	.|CUB (5);	.|0.572616	.|0.14831	.|N	.|0.295867	T|T	0.41282|0.41282	0.1152|0.1152	L|L	0.36672|0.36672	1.1|1.1	0.30578|0.30578	N|N	0.762843|0.762843	.|D;D;B	.|0.89917	.|1.0;1.0;0.085	.|D;D;B	.|0.74674	.|0.984;0.932;0.042	T|T	0.34950|0.34950	-0.9808|-0.9808	5|10	.|0.72032	.|D	.|0.01	.|.	8.4735|8.4735	0.32999|0.32999	0.0:0.0:0.7683:0.2317|0.0:0.0:0.7683:0.2317	.|.	.|136;136;136	.|F5GWF3;F5H7C8;Q9NZP8	.|.;.;C1RL_HUMAN	V|W	35|136	.|ENSP00000266542:R136W;ENSP00000441885:R136W;ENSP00000437398:R136W;ENSP00000442611:R136W	.|ENSP00000266542:R136W	A|R	-|-	2|1	0|2	C1RL|C1RL	7145854|7145854	0.008000|0.008000	0.16893|0.16893	0.643000|0.643000	0.29450|0.29450	0.916000|0.916000	0.54674|0.54674	0.914000|0.914000	0.28624|0.28624	1.112000|1.112000	0.41740|0.41740	0.462000|0.462000	0.41574|0.41574	GCG|CGG		0.607	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		4	130	0	0	0	1	0	4	130					A	7254578	G	A	7254578	3	1	477	1	0	0	0	0	1	0	0	0	1973	1086	38	1	1073	1	C1RL	12	7254578	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08		7254578	126597317	40	32008											
ORMDL2	29095	broad.mit.edu	37	chr12	56213247	56213247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccagtttacctcttcccGcaagttcctcagcatctctc	6	13	5	17	1	3	0	1	0	2	0	8	0	6	0	4	0	2	5	4	0	2	4	rs377746434		TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr12:56213247G>A	ENST00000243045.5	+	3	491	c.296G>A	c.(295-297)cGc>cAc	p.R99H	ORMDL2_ENST00000548974.1_Missense_Mutation_p.R99H|ORMDL2_ENST00000552672.1_Missense_Mutation_p.R65H|SARNP_ENST00000444631.2_5'Flank|RP11-762I7.5_ENST00000546837.1_Intron|RP11-762I7.5_ENST00000552719.1_Intron|SARNP_ENST00000552080.1_5'Flank|ORMDL2_ENST00000550836.1_Missense_Mutation_p.R11H|SARNP_ENST00000336133.3_5'Flank	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN	ORMDL sphingolipid biosynthesis regulator 2	99					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|lung(3)	4						ACCTCTTCCCGCAAGTTCCTC	0.512																																						ENST00000243045.5																			0				kidney(1)|lung(3)	4						c.(295-297)cGc>cAc		ORM1-like 2 (S. cerevisiae)		G	HIS/ARG	0,4406		0,0,2203	222	187	199		296	5.6	1	12		199	1,8599	1.2+/-3.3	0,1,4299	no	missense	ORMDL2	NM_014182.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	99/154	56213247	1,13005	2203	4300	6503	SO:0001583	missense	29095				ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane		g.chr12:56213247G>A	AF395707	CCDS8893.1	12q13.2	2014-06-16	2014-06-16			ENSG00000123353			16037	protein-coding gene	gene with protein product		610074	"ORM1 (S. cerevisiae)-like 2", "ORM1-like 2 (S. cerevisiae)"			12093374, 23066021	Standard	NM_014182		Approved	HSPC160, adoplin-2, MST095, MSTP095	uc001shw.1	Q53FV1		ENST00000243045.5:c.296G>A	12.37:g.56213247G>A	ENSP00000243045:p.Arg99His					ORMDL2_ENST00000550836.1_Missense_Mutation_p.R11H|RP11-762I7.5_ENST00000546837.1_Intron|ORMDL2_ENST00000552672.1_Missense_Mutation_p.R65H|ORMDL2_ENST00000548974.1_Missense_Mutation_p.R99H|RP11-762I7.5_ENST00000552719.1_Intron	p.R99H	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN			3	491	+			99					B2RA58|Q7Z4E5|Q8NFX0|Q9P004	Missense_Mutation	SNP	ENST00000243045.5	37	c.296G>A	CCDS8893.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960945	0.92791	0.0	1.16E-4	ENSG00000123353	ENST00000243045;ENST00000552672;ENST00000550836;ENST00000548974	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.85583	0.5730	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.88194	0.2879	9	0.87932	D	0	3.1268	17.5007	0.87731	0.0:0.0:1.0:0.0	.	99	Q53FV1	ORML2_HUMAN	H	99;65;11;99	.	ENSP00000243045:R99H	R	+	2	0	ORMDL2	54499514	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.009000	0.88606	2.815000	0.96918	0.561000	0.74099	CGC		0.512	ORMDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407934.1	NM_014182		4	129	0	0	0	1	0	4	129					A	56213247	G	A	56213247	3	1	477	1	0	0	0	0	1	0	0	0	11270	1087	38	1	302	1	ORMDL2	12	56213247	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	48958669	56213247	77638648	41	32009											
DCN	1634	broad.mit.edu	37	chr12	91572146	91572146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacactggaccactcgaaGatggcattgacagcggaagg	14	5	13	9	2	0	3	0	1	0	2	1	6	0	5	1	4	2	1	1	4	3	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr12:91572146G>T	ENST00000052754.5	-	2	685	c.184C>A	c.(184-186)Ctt>Att	p.L62I	DCN_ENST00000548768.1_5'Flank|DCN_ENST00000547568.2_Missense_Mutation_p.L62I|DCN_ENST00000303320.3_Missense_Mutation_p.L62I|DCN_ENST00000441303.2_Missense_Mutation_p.L62I|DCN_ENST00000425043.1_Missense_Mutation_p.L62I|DCN_ENST00000546745.1_Missense_Mutation_p.L62I|DCN_ENST00000552962.1_Missense_Mutation_p.L62I|DCN_ENST00000420120.2_Missense_Mutation_p.L62I|DCN_ENST00000551354.1_Missense_Mutation_p.L62I|DCN_ENST00000228329.5_Missense_Mutation_p.L62I|DCN_ENST00000550099.1_Missense_Mutation_p.L62I|DCN_ENST00000393155.1_Missense_Mutation_p.L62I|DCN_ENST00000546370.1_Missense_Mutation_p.L62I|DCN_ENST00000456569.2_Missense_Mutation_p.L62I	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	62	Cys-rich.				aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ACCACTCGAAGATGGCATTGA	0.512											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000551354.1																			0				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(184-186)Ctt>Att		decorin							151	143	146					12																	91572146		2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91572146G>T	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	2705	protein-coding gene	gene with protein product	"decorin proteoglycan"	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.184C>A	12.37:g.91572146G>T	ENSP00000052754:p.Leu62Ile		OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1283	DCN_ENST00000441303.2_Missense_Mutation_p.L62I|DCN_ENST00000550099.1_Missense_Mutation_p.L62I|DCN_ENST00000552962.1_Missense_Mutation_p.L62I|DCN_ENST00000420120.2_Missense_Mutation_p.L62I|DCN_ENST00000546370.1_Missense_Mutation_p.L62I|DCN_ENST00000393155.1_Missense_Mutation_p.L62I|DCN_ENST00000303320.3_Missense_Mutation_p.L62I|DCN_ENST00000425043.1_Missense_Mutation_p.L62I|DCN_ENST00000052754.5_Missense_Mutation_p.L62I|DCN_ENST00000228329.5_Missense_Mutation_p.L62I|DCN_ENST00000456569.2_Missense_Mutation_p.L62I|DCN_ENST00000547568.2_Missense_Mutation_p.L62I|DCN_ENST00000546745.1_Missense_Mutation_p.L62I	p.L62I			P07585	PGS2_HUMAN			2	388	-			62			Cys-rich.		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.184C>A	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838076	0.91117	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000303320;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000441303;ENST00000547568;ENST00000546391;ENST00000456569;ENST00000547937;ENST00000552145;ENST00000550563;ENST00000549513;ENST00000546370;ENST00000546745;ENST00000550099;ENST00000551354	T;T;D;T;D;T;T;D;D;D;D;T;T;T;D;D;D;D;D	0.96491	3.15;3.15;-4.03;3.15;-4.03;3.15;3.15;-4.03;-4.03;-4.03;-4.03;3.15;3.15;3.15;-4.03;-4.03;-4.03;-4.03;-4.03	5.91	5.01	0.66863	Leucine-rich repeat-containing N-terminal (2);	0.115675	0.64402	N	0.000010	D	0.96636	0.8902	L	0.48260	1.515	0.27221	N	0.959656	B;D;D;B;B	0.63880	0.085;0.979;0.993;0.017;0.028	P;P;P;B;B	0.62813	0.497;0.801;0.907;0.056;0.053	D	0.92434	0.5956	10	0.26408	T	0.33	.	16.1928	0.82004	0.0:0.0:0.8589:0.1411	.	62;62;62;62;62	P07585;P07585-5;P07585-4;P07585-3;P07585-2	PGS2_HUMAN;.;.;.;.	I	62	ENSP00000052754:L62I;ENSP00000228329:L62I;ENSP00000302031:L62I;ENSP00000376862:L62I;ENSP00000401021:L62I;ENSP00000447654:L62I;ENSP00000413723:L62I;ENSP00000399815:L62I;ENSP00000447674:L62I;ENSP00000446530:L62I;ENSP00000398514:L62I;ENSP00000449782:L62I;ENSP00000447886:L62I;ENSP00000449014:L62I;ENSP00000449438:L62I;ENSP00000446527:L62I;ENSP00000448857:L62I;ENSP00000448057:L62I;ENSP00000448274:L62I	ENSP00000052754:L62I	L	-	1	0	DCN	90096277	1.000000	0.71417	0.962000	0.40283	0.834000	0.47266	5.150000	0.64869	1.470000	0.48102	0.460000	0.39030	CTT		0.512	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		22	58	1	0	6.36457e-07	1	7.04346e-07	22	58					T	91572146	G	T	91572146	3	4	477	1	0	0	0	0	1	0	0	0	4297	942	33	5	923	5	DCN	12	91572146	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	35358899	91572146	42279749	42	32010											
SLC17A8	246213	broad.mit.edu	37	chr12	100811862	100811862	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatgccagcattctcatgggGatctcaaacggagtgggaac	11	9	12	9	1	2	0	2	0	2	0	4	3	2	3	1	4	4	1	1	4	3	2	rs145178639	byFrequency	TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr12:100811862G>T	ENST00000323346.5	+	11	1666	c.1353G>T	c.(1351-1353)ggG>ggT	p.G451G	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Silent_p.G401G	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	451					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTCTCATGGGGATCTCAAACG	0.488																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1351-1353)ggG>ggT		solute carrier family 17 (vesicular glutamate transporter), member 8							179	164	169					12																	100811862		2203	4300	6503	SO:0001819	synonymous_variant	246213				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	g.chr12:100811862G>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1353G>T	12.37:g.100811862G>T						SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Silent_p.G401G	p.G451G	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN			11	1666	+			451					B3KXZ6|B7ZKV4|Q17RQ8	Silent	SNP	ENST00000323346.5	37	c.1353G>T	CCDS9077.1																																																																																				0.488	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		25	103	1	0	1.42536e-11	1	1.64312e-11	25	103					T	100811862	G	T	100811862	2	4	477	1	0	0	0	0	0	0	0	1	14423	1161	41	5		5	SLC17A8	12	100811862	Silent	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	9239716	100811862	33040033	43	32011											
BTBD11	121551	broad.mit.edu	37	chr12	107914363	107914363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccagtcggagctgaggaCcatcgagcagtctttgctgg	8	8	14	11	2	1	1	0	1	1	0	3	4	1	3	2	3	4	3	2	3	0	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr12:107914363C>A	ENST00000280758.5	+	2	1763	c.1235C>A	c.(1234-1236)aCc>aAc	p.T412N	BTBD11_ENST00000490090.2_Missense_Mutation_p.T412N|BTBD11_ENST00000420571.2_Missense_Mutation_p.T412N	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	412						integral component of membrane (GO:0016021)				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						GAGCTGAGGACCATCGAGCAG	0.562																																						ENST00000280758.5																			0				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						c.(1234-1236)aCc>aAc		BTB (POZ) domain containing 11							140	125	130					12																	107914363		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:107914363C>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1235C>A	12.37:g.107914363C>A	ENSP00000280758:p.Thr412Asn					BTBD11_ENST00000490090.2_Missense_Mutation_p.T412N|BTBD11_ENST00000420571.2_Missense_Mutation_p.T412N	p.T412N	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			2	1763	+			412					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1235C>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413366	0.62511	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000415943	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	3.97	3.97	0.46021	.	0.586122	0.17109	N	0.186675	T	0.62085	0.2399	M	0.64404	1.975	0.80722	D	1	P;P;D	0.60575	0.932;0.48;0.988	P;B;P	0.57548	0.66;0.083;0.823	T	0.68051	-0.5511	10	0.72032	D	0.01	.	16.9431	0.86223	0.0:1.0:0.0:0.0	.	412;412;412	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	N	412;412;412;46	ENSP00000280758:T412N;ENSP00000413889:T412N;ENSP00000447319:T412N;ENSP00000407416:T46N	ENSP00000280758:T412N	T	+	2	0	BTBD11	106438493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.335000	0.79234	2.159000	0.67721	0.561000	0.74099	ACC		0.562	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		13	52	1	0	1.15088e-07	1	1.29085e-07	13	52					A	107914363	C	A	107914363	3	1	477	1	0	0	0	0	1	0	0	0	1539	507	18	5	1241	5	BTBD11	12	107914363	Missense_Mutation	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08	7102501	107914363	25937532	44	32012											
SACS	26278	broad.mit.edu	37	chr13	23914995	23914995	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataagctgtgttacctctTcatgtgaataaaatgcattt	13	15	6	7	0	2	1	1	1	1	0	2	1	2	1	1	0	3	3	1	0	5	5			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr13:23914995T>A	ENST00000382292.3	-	9	3293	c.3020A>T	c.(3019-3021)gAa>gTa	p.E1007V	SACS_ENST00000382298.3_Missense_Mutation_p.E1007V|SACS_ENST00000402364.1_Missense_Mutation_p.E257V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1007					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			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)		TGTTACCTCTTCATGTGAATA	0.328																																						ENST00000382298.3																			0				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						c.(3019-3021)gAa>gTa		spastic ataxia of Charlevoix-Saguenay (sacsin)							109	111	110					13																	23914995		2203	4300	6503	SO:0001583	missense	26278				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	g.chr13:23914995T>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3020A>T	13.37:g.23914995T>A	ENSP00000371729:p.Glu1007Val					SACS_ENST00000402364.1_Missense_Mutation_p.E257V|SACS_ENST00000382292.3_Missense_Mutation_p.E1007V	p.E1007V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3608	-		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)	1007					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.3020A>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	16.88	3.245287	0.59103	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88431	-2.23;-2.38;-2.23	6.05	4.85	0.62838	.	0.285113	0.39834	N	0.001254	D	0.82783	0.5112	L	0.32530	0.975	0.38320	D	0.943493	B	0.28419	0.211	B	0.25140	0.058	T	0.80269	-0.1453	10	0.41790	T	0.15	.	12.676	0.56895	0.1238:0.0:0.0:0.8762	.	1007	Q9NZJ4	SACS_HUMAN	V	1007;257;1007	ENSP00000371729:E1007V;ENSP00000385844:E257V;ENSP00000371735:E1007V	ENSP00000371729:E1007V	E	-	2	0	SACS	22812995	1.000000	0.71417	0.904000	0.35570	0.983000	0.72400	4.873000	0.63057	1.078000	0.41014	0.528000	0.53228	GAA		0.328	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		29	100	0	0	0	1	0	29	100					A	23914995	T	A	23914995	3	1	477	1	0	0	0	0	1	0	0	0	13804	1783	62	5	10723	5	SACS	13	23914995	Missense_Mutation	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08		23914995	91254883	45	32013											
KIAA0831	22863	broad.mit.edu	37	chr14	55844786	55844786	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcttagattttcgccacaAaattcactgtaaaacaaaca	16	12	4	9	1	1	1	1	0	0	1	2	1	1	1	1	0	3	2	1	0	6	6			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr14:55844786A>G	ENST00000247178.5	-	8	1037	c.1002T>C	c.(1000-1002)ttT>ttC	p.F334F		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	334					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						TTTCGCCACAAAATTCACTGT	0.289																																						ENST00000247178.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(1000-1002)ttT>ttC		autophagy related 14							57	60	59					14																	55844786		2203	4294	6497	SO:0001819	synonymous_variant	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55844786A>G	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"Barkor", "beclin 1-associated autophagy-related key regulator"	613515	"KIAA0831", "ATG14 autophagy related 14 homolog (S. cerevisiae)"	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.1002T>C	14.37:g.55844786A>G							p.F334F	NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN			8	1037	-			334					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Silent	SNP	ENST00000247178.5	37	c.1002T>C	CCDS32087.1																																																																																				0.289	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		8	34	0	0	0	1	0	8	34					G	55844786	A	G	55844786	2	3	477	1	0	0	0	0	0	0	0	1	8195	11	1	4		4	KIAA0831	14	55844786	Silent	SNP	A	TCGA-ZG-A8QY-01A-11D-A377-08		55844786	51504754	46	32014											
C14orf4	64207	broad.mit.edu	37	chr14	77492213	77492213	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcacggaactgccatcCttgggcgagtgcgctgtgcc	6	8	15	12	3	0	0	0	0	0	0	1	3	1	1	3	2	5	2	3	2	1	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr14:77492213C>A	ENST00000238647.3	-	1	2821	c.1923G>T	c.(1921-1923)aaG>aaT	p.K641N		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	641					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						AACTGCCATCCTTGGGCGAGT	0.682																																						ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(1921-1923)aaG>aaT		interferon regulatory factor 2 binding protein-like							16	15	15					14																	77492213		2168	4242	6410	SO:0001583	missense	64207					nucleus		g.chr14:77492213C>A	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.1923G>T	14.37:g.77492213C>A	ENSP00000238647:p.Lys641Asn						p.K641N	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	2821	-			641					Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	ENST00000238647.3	37	c.1923G>T	CCDS9854.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303424	0.60195	.	.	ENSG00000119669	ENST00000238647	T	0.66460	-0.21	4.3	3.41	0.39046	.	0.000000	0.85682	U	0.000000	T	0.63212	0.2492	L	0.57536	1.79	0.49582	D	0.999807	P	0.38617	0.64	B	0.41088	0.347	T	0.61884	-0.6971	10	0.39692	T	0.17	.	10.8469	0.46748	0.0:0.9075:0.0:0.0925	.	641	Q9H1B7	I2BPL_HUMAN	N	641	ENSP00000238647:K641N	ENSP00000238647:K641N	K	-	3	2	IRF2BPL	76561966	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	0.751000	0.26348	1.014000	0.39417	0.462000	0.41574	AAG		0.682	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		7	26	1	0	0.00198382	1	0.00208426	7	26					A	77492213	C	A	77492213	3	1	477	1	0	0	0	0	1	0	0	0	1773	680	24	5	471	5	C14orf4	14	77492213	Missense_Mutation	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08	21647427	77492213	29857327	47	32015											
DDX24	57062	broad.mit.edu	37	chr14	94527296	94527311	+	Frame_Shift_Del	DEL	CTTTAATTAATTCCCA	CTTTAATTAATTCCCA	-																															cctcaaatgataatgcttttCtttaattaattcccacagcc																								rs77493762		TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr14:94527296_94527311delCTTTAATTAATTCCCA	ENST00000330836.5	-	4	1476_1491	c.1345_1360delTGGGAATTAATTAAAG	c.(1345-1362)tgggaattaattaaagaafs	p.WELIKE449fs	DDX24_ENST00000555054.1_Frame_Shift_Del_p.WELIKE406fs|DDX24_ENST00000544005.1_Frame_Shift_Del_p.WELIKE199fs	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	449	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TAATGCTTTTCTTTAATTAATTCCCACAGCCGGCCT	0.454																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(1345-1362)aafs		DEAD (Asp-Glu-Ala-Asp) box helicase 24																																				SO:0001589	frameshift_variant	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94527296_94527311delCTTTAATTAATTCCCA	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"DEAD-boxes"	13266	protein-coding gene	gene with protein product		606181	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1345_1360delTGGGAATTAATTAAAG	14.37:g.94527296_94527311delCTTTAATTAATTCCCA	ENSP00000328690:p.Trp449fs					DDX24_ENST00000544005.1_Frame_Shift_Del_p.WELIKE199fs|DDX24_ENST00000555054.1_Frame_Shift_Del_p.WELIKE406fs	p.WELIKE449fs	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	4	1476_1491	-		all_cancers(154;0.12)	449			Helicase ATP-binding.		E7EMJ4|Q4V9L5	Frame_Shift_Del	DEL	ENST00000330836.5	37	c.1345_1360delTGGGAATTAATTAAAG	CCDS9918.1																																																																																				0.454	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		7	51						7	51	---	---	---	---	-	94527311	CTTTAATTAATTCCCA	-	94527296	7	5	477	1	0	1	0	1	0	0	0	0	4351	922	32	0	1243	0	DDX24	14	94527296	Frame_Shift_Del	DEL	CTTTAATTAATTCCCA	TCGA-ZG-A8QY-01A-11D-A377-08	17035083	94527296	12822244	48	32016											
PAK6	56924	broad.mit.edu	37	chr15	40558520	40558520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatggctctgaggaggccCggccacagtcctgcctggtg	6	7	15	13	1	1	1	0	1	1	0	2	2	2	2	4	5	2	2	4	5	0	0			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr15:40558520C>T	ENST00000542403.2	+	3	793	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	PAK6_ENST00000560346.1_Missense_Mutation_p.R228W|PAK6_ENST00000455577.2_Missense_Mutation_p.R228W|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.R228W|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000453867.1_Missense_Mutation_p.R228W|PAK6_ENST00000441369.1_Missense_Mutation_p.R228W	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	228	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TGAGGAGGCCCGGCCACAGTC	0.672																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(682-684)Cgg>Tgg		p21 protein (Cdc42/Rac)-activated kinase 6																																				SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40558520C>T	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.682C>T	15.37:g.40558520C>T	ENSP00000439597:p.Arg228Trp					PAK6_ENST00000560346.1_Missense_Mutation_p.R228W|PAK6_ENST00000542403.2_Missense_Mutation_p.R228W|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.R228W|PAK6_ENST00000453867.1_Missense_Mutation_p.R228W|PAK6_ENST00000441369.1_Missense_Mutation_p.R228W	p.R228W	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	5	1594	+		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)	228			Linker.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.682C>T	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371753	0.82573	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.74315	-0.79;-0.79;-0.83;-0.79;-0.79	5.48	4.51	0.55191	.	0.244906	0.39083	N	0.001463	T	0.54351	0.1853	N	0.12182	0.205	0.47308	D	0.999389	B;B	0.24132	0.013;0.098	B;B	0.18871	0.005;0.023	T	0.56183	-0.8021	10	0.59425	D	0.04	.	9.0271	0.36236	0.1498:0.7677:0.0:0.0825	.	228;228	Q9NQU5;G5E9R2	PAK6_HUMAN;.	W	228	ENSP00000406873:R228W;ENSP00000401153:R228W;ENSP00000409465:R228W;ENSP00000260404:R228W;ENSP00000439597:R228W	ENSP00000260404:R228W	R	+	1	2	PAK6	38345812	0.940000	0.31905	1.000000	0.80357	0.989000	0.77384	1.790000	0.38734	2.590000	0.87494	0.561000	0.74099	CGG		0.672	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			6	15	0	0	0	1	0	6	15					T	40558520	C	T	40558520	3	4	477	1	0	0	0	0	1	0	0	0	11404	643	23	2	688	2	PAK6	15	40558520	Missense_Mutation	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08		40558520	61972872	49	32017											
SV2B	9899	broad.mit.edu	37	chr15	91827401	91827401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgtctgtcttacccgggaAcatcatttctgccctgctca	6	13	7	15	1	5	0	2	0	3	0	5	1	5	1	3	1	4	1	3	1	2	2			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr15:91827401A>G	ENST00000394232.1	+	11	2128	c.1658A>G	c.(1657-1659)aAc>aGc	p.N553S	SV2B_ENST00000330276.4_Missense_Mutation_p.N553S|SV2B_ENST00000545111.2_Missense_Mutation_p.N402S	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	553					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			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)			TTACCCGGGAACATCATTTCT	0.537																																						ENST00000394232.1																			0				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						c.(1657-1659)aAc>aGc		synaptic vesicle glycoprotein 2B							122	109	114					15																	91827401		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91827401A>G	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1658A>G	15.37:g.91827401A>G	ENSP00000377779:p.Asn553Ser					SV2B_ENST00000545111.2_Missense_Mutation_p.N402S|SV2B_ENST00000330276.4_Missense_Mutation_p.N553S	p.N553S	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		11	2128	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		553					B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.1658A>G	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	.	25.6	4.652900	0.88056	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.55760	0.5;0.5;0.5	5.82	5.82	0.92795	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69011	-0.5258	10	0.21014	T	0.42	-29.7925	15.0605	0.71947	1.0:0.0:0.0:0.0	.	553	Q7L1I2	SV2B_HUMAN	S	402;553;553	ENSP00000443243:N402S;ENSP00000377779:N553S;ENSP00000332818:N553S	ENSP00000332818:N553S	N	+	2	0	SV2B	89628405	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.039000	0.93777	2.238000	0.73509	0.477000	0.44152	AAC		0.537	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		22	85	0	0	0	1	0	22	85					G	91827401	A	G	91827401	3	3	477	1	0	0	0	0	1	0	0	0	15415	43	2	4	1696	4	SV2B	15	91827401	Missense_Mutation	SNP	A	TCGA-ZG-A8QY-01A-11D-A377-08	51268881	91827401	10703991	50	32018											
IFT140	9742	broad.mit.edu	37	chr16	1639732	1639732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgaatcgtgctgtctgcGgacaccacctgagtggtctt	7	12	11	11	2	3	2	0	2	3	0	4	3	3	3	2	2	2	1	2	2	1	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr16:1639732G>A	ENST00000426508.2	-	7	1047	c.684C>T	c.(682-684)tcC>tcT	p.S228S	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	228					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGCTGTCTGCGGACACCACCT	0.567																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(682-684)tcC>tcT		intraflagellar transport 140 homolog (Chlamydomonas)							149	107	121					16																	1639732		2199	4300	6499	SO:0001819	synonymous_variant	9742							g.chr16:1639732G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.684C>T	16.37:g.1639732G>A						LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	p.S228S	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			7	1047	-		Hepatocellular(780;0.219)	228					A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.684C>T	CCDS10439.1																																																																																				0.567	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		18	35	0	0	0	1	0	18	35					A	1639732	G	A	1639732	2	1	477	1	0	0	0	0	0	0	0	1	7556	1103	39	2		2	IFT140	16	1639732	Silent	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08		1639732	88715021	51	32019											
A2BP1	54715	broad.mit.edu	37	chr16	7568326	7568326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaaacctgtaccctcccGcccagacgcactccgagcag	10	6	7	18	3	0	1	0	0	0	1	2	2	2	1	5	0	3	3	5	0	3	2			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr16:7568326G>A	ENST00000550418.1	+	5	1193	c.205G>A	c.(205-207)Gcc>Acc	p.A69T	RBFOX1_ENST00000422070.4_Missense_Mutation_p.A112T|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A89T|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A105T|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A89T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A69T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A69T|RBFOX1_ENST00000340209.4_Missense_Mutation_p.A74T|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A112T|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A105T|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A89T	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	69					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.A89T(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GTACCCTCCCGCCCAGACGCA	0.642																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			2	Substitution - Missense(2)	p.A89T(2)	large_intestine(2)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(220-222)Gcc>Acc		RNA binding protein, fox-1 homolog (C. elegans) 1							114	108	110					16																	7568326		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568326G>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.205G>A	16.37:g.7568326G>A	ENSP00000450031:p.Ala69Thr					RBFOX1_ENST00000311745.5_Missense_Mutation_p.A89T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A69T|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A89T|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A112T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A69T|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A112T|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A105T|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A69T|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A89T|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A105T	p.A74T			Q9NWB1	RFOX1_HUMAN			2	517	+			69					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.220G>A	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555922	0.27827	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.33654	1.88;1.41;1.72;1.63;1.65;1.82;1.41;1.51;1.72;1.67;1.4	4.67	3.71	0.42584	.	0.140569	0.47093	N	0.000258	T	0.13884	0.0336	N	0.12569	0.235	0.42711	D	0.993641	B;P;B;B;B;B;B;B;B	0.43314	0.021;0.803;0.084;0.093;0.002;0.045;0.0;0.0;0.183	B;B;B;B;B;B;B;B;B	0.25884	0.007;0.064;0.007;0.025;0.006;0.013;0.002;0.001;0.025	T	0.09228	-1.0684	10	0.21540	T	0.41	-4.6637	9.3326	0.38032	0.1769:0.0:0.8231:0.0	.	89;105;112;89;89;89;69;69;112	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	T	69;69;69;112;112;105;105;69;69;89;89;89;89;74	ENSP00000450402:A69T;ENSP00000450031:A69T;ENSP00000447753:A69T;ENSP00000446842:A112T;ENSP00000391269:A112T;ENSP00000447281:A69T;ENSP00000447717:A69T;ENSP00000402745:A89T;ENSP00000309117:A89T;ENSP00000347855:A89T;ENSP00000344196:A74T	ENSP00000309117:A89T	A	+	1	0	RBFOX1	7508327	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.754000	0.55189	0.920000	0.36970	0.557000	0.71058	GCC		0.642	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		36	103	0	0	0	1	0	36	103					A	7568326	G	A	7568326	3	1	477	1	0	0	0	0	1	0	0	0	3	1087	38	1	302	1	A2BP1	16	7568326	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	5928594	7568326	82786427	52	32020											
SF3B3	23450	broad.mit.edu	37	chr16	70602298	70602298	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtaatgaaaaccagcttaTcatctttgctgatgatacct	12	13	7	9	1	2	3	1	3	1	0	2	3	2	3	2	0	4	3	2	0	5	4			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr16:70602298T>C	ENST00000302516.5	+	22	3276	c.3065T>C	c.(3064-3066)aTc>aCc	p.I1022T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1022					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AACCAGCTTATCATCTTTGCT	0.468																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(3064-3066)aTc>aCc		splicing factor 3b, subunit 3, 130kDa							160	146	151					16																	70602298		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70602298T>C	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3065T>C	16.37:g.70602298T>C	ENSP00000305790:p.Ile1022Thr						p.I1022T	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			22	3276	+		Ovarian(137;0.0694)	1022					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.3065T>C	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.371605	0.61624	.	.	ENSG00000189091	ENST00000302516	T	0.46063	0.88	5.92	5.92	0.95590	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.049098	0.85682	D	0.000000	T	0.41190	0.1148	L	0.52905	1.665	0.80722	D	1	B	0.20887	0.049	B	0.27715	0.082	T	0.26780	-1.0093	10	0.13853	T	0.58	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	1022	Q15393	SF3B3_HUMAN	T	1022	ENSP00000305790:I1022T	ENSP00000305790:I1022T	I	+	2	0	SF3B3	69159799	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.884000	0.87274	2.255000	0.74692	0.533000	0.62120	ATC		0.468	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		28	66	0	0	0	1	0	28	66					C	70602298	T	C	70602298	3	2	477	1	0	0	0	0	1	0	0	0	14152	1435	50	4	3147	4	SF3B3	16	70602298	Missense_Mutation	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08	63033972	70602298	19752455	53	32021											
ZCCHC14	23174	broad.mit.edu	37	chr16	87452473	87452473	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccagacacgcccatcacGgtacctactttagaaaggga	12	8	8	13	2	1	2	1	0	0	2	2	3	2	3	3	2	2	1	3	2	4	5	rs141236185		TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr16:87452473G>C	ENST00000268616.4	-	7	886	c.669C>G	c.(667-669)acC>acG	p.T223T		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	223							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CGCCCATCACGGTACCTACTT	0.323																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(667-669)acC>acG		zinc finger, CCHC domain containing 14							57	49	52					16																	87452473		2198	4300	6498	SO:0001819	synonymous_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87452473G>C	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.669C>G	16.37:g.87452473G>C							p.T223T	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	7	886	-			223					D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	c.669C>G	CCDS10961.1																																																																																				0.323	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		13	27	0	0	0	1	0	13	27					C	87452473	G	C	87452473	2	2	477	1	0	0	0	0	0	0	0	1	17580	1103	39	5		5	ZCCHC14	16	87452473	Silent	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	16850175	87452473	2902280	54	32022											
APRT	353	broad.mit.edu	37	chr16	88878005	88878005	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcgccttcaggtgtcgcGccaggaggccgatggcggcg	4	6	19	12	6	1	0	1	0	0	0	3	2	1	1	3	6	0	0	3	6	0	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr16:88878005G>C	ENST00000378364.3	-	2	184	c.140C>G	c.(139-141)gCg>gGg	p.A47G	APRT_ENST00000563655.1_Missense_Mutation_p.A47G|APRT_ENST00000426324.2_Missense_Mutation_p.A47G	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	47					adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CAGGTGTCGCGCCAGGAGGCC	0.721																																						ENST00000378364.3																			0				cervix(1)|endometrium(1)|liver(1)	3						c.(139-141)gCg>gGg		adenine phosphoribosyltransferase	Adenine(DB00173)|Adenosine monophosphate(DB00131)						10	9	9					16																	88878005		2125	4204	6329	SO:0001583	missense	353				purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding	g.chr16:88878005G>C		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741		ENST00000378364.3:c.140C>G	16.37:g.88878005G>C	ENSP00000367615:p.Ala47Gly					APRT_ENST00000563655.1_Missense_Mutation_p.A47G|APRT_ENST00000426324.2_Missense_Mutation_p.A47G	p.A47G	NM_000485.2	NP_000476.1	P07741	APT_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	2	184	-			47					G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	ENST00000378364.3	37	c.140C>G	CCDS32511.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257254	0.59321	.	.	ENSG00000198931	ENST00000378364;ENST00000426324	D;D	0.99660	-6.32;-6.32	4.77	3.74	0.42951	Phosphoribosyltransferase (1);	0.205916	0.39210	N	0.001423	D	0.99190	0.9719	M	0.79614	2.46	0.39828	D	0.972921	P;P	0.50369	0.81;0.934	P;P	0.53988	0.648;0.739	D	0.99032	1.0821	10	0.87932	D	0	-13.5747	7.1918	0.25831	0.0:0.1573:0.5715:0.2712	.	47;47	G5E9J2;P07741	.;APT_HUMAN	G	47	ENSP00000367615:A47G;ENSP00000397007:A47G	ENSP00000367615:A47G	A	-	2	0	APRT	87405506	0.998000	0.40836	0.904000	0.35570	0.377000	0.30045	3.107000	0.50329	2.194000	0.70268	0.313000	0.20887	GCG		0.721	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		4	7	0	0	0	1	0	4	7					C	88878005	G	C	88878005	3	2	477	1	0	0	0	0	1	0	0	0	819	1087	38	5	418	5	APRT	16	88878005	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	1425532	88878005	1476748	55	32023											
GLOD4	51031	broad.mit.edu	37	chr17	663460	663460	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttggcaaaccactcgtcacTtttatctgctgccattgcct	7	15	6	13	1	2	0	1	0	1	0	3	0	2	0	3	1	4	2	3	1	2	4			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:663460T>A	ENST00000301328.5	-	10	918	c.895A>T	c.(895-897)Agt>Tgt	p.S299C	GLOD4_ENST00000536578.1_Missense_Mutation_p.S275C|GLOD4_ENST00000301329.6_Missense_Mutation_p.S284C|GLOD4_ENST00000575800.1_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	299						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CACTCGTCACTTTTATCTGCT	0.428																																						ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(850-852)Agt>Tgt		glyoxalase domain containing 4							192	157	169					17																	663460		2203	4300	6503	SO:0001583	missense	51031					mitochondrion		g.chr17:663460T>A	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 25"	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.895A>T	17.37:g.663460T>A	ENSP00000301328:p.Ser299Cys					GLOD4_ENST00000536578.1_Missense_Mutation_p.S275C|GLOD4_ENST00000301328.5_Missense_Mutation_p.S299C	p.S284C	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	9	935	-			299					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	ENST00000301328.5	37	c.850A>T		.	.	.	.	.	.	.	.	.	.	T	31	5.083184	0.94050	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	T;T;T	0.55588	0.52;0.52;0.51	6.02	6.02	0.97574	.	0.072810	0.85682	D	0.000000	T	0.77987	0.4213	M	0.90483	3.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.993;1.0	T	0.82418	-0.0467	10	0.66056	D	0.02	-18.6634	15.7258	0.77756	0.0:0.0:0.0:1.0	.	275;299;284	B7Z403;Q9HC38;Q9HC38-2	.;GLOD4_HUMAN;.	C	284;487;299;275	ENSP00000301329:S284C;ENSP00000301328:S299C;ENSP00000444315:S275C	ENSP00000301328:S299C	S	-	1	0	GLOD4	610210	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.708000	0.84633	2.311000	0.77944	0.533000	0.62120	AGT		0.428	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		18	48	0	0	0	1	0	18	48					A	663460	T	A	663460	3	1	477	1	0	0	0	0	1	0	0	0	6450	1609	56	5	50	5	GLOD4	17	663460	Missense_Mutation	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08		663460	80531750	56	32024											
KDM6B	23135	broad.mit.edu	37	chr17	7753140	7753146	+	Splice_Site	DEL	AATGCCA	AATGCCA	-																															ttccactgtcctcccgcaggAatgccaaggtgaaagggaag																										TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:7753140_7753146delAATGCCA	ENST00000448097.2	+	12	3773_3779	c.3442_3448delAATGCCA	c.(3442-3450)aatgccaag>ag	p.NAK1148fs	KDM6B_ENST00000254846.5_Splice_Site_p.NAK1148fs			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1148					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTCCCGCAGGAATGCCAAGGTGAAAGG	0.565																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.e12-1		lysine (K)-specific demethylase 6B																																				SO:0001630	splice_region_variant	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7753140_7753146delAATGCCA	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3441-1AATGCCA>-	17.37:g.7753140_7753146delAATGCCA						KDM6B_ENST00000448097.2_Splice_Site_p.NAK1148_splice	p.NAK1148_splice	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			12	3831_3837	+			1148					C9IZ40|Q96G33	Splice_Site	DEL	ENST00000448097.2	37	c.3440_splice																																																																																					0.565	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272	Frame_Shift_Del	27	88						27	88	---	---	---	---	-	7753146	AATGCCA	-	7753140	8	5	477	1	0	1	0	1	0	0	1	0	8138	260	9	0	3476	0	KDM6B	17	7753140	Splice_Site	DEL	AATGCCA	TCGA-ZG-A8QY-01A-11D-A377-08	7089680	7753140	73442070	57	32025											
DHRS7C	201140	broad.mit.edu	37	chr17	9676090	9676090	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaagtctcacatttccAaatggaagcttcccagtttc	10	13	6	12	0	2	1	1	1	2	0	6	2	4	2	2	1	1	2	2	1	3	3			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:9676090A>G	ENST00000330255.5	-	5	736	c.724T>C	c.(724-726)Tgg>Cgg	p.W242R	DHRS7C_ENST00000571134.1_Missense_Mutation_p.W241R	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	242					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TCACATTTCCAAATGGAAGCT	0.557																																						ENST00000330255.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						c.(724-726)Tgg>Cgg		dehydrogenase/reductase (SDR family) member 7C							66	70	69					17																	9676090		2006	4202	6208	SO:0001583	missense	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9676090A>G		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	32423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 2"					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.724T>C	17.37:g.9676090A>G	ENSP00000327975:p.Trp242Arg					DHRS7C_ENST00000571134.1_Missense_Mutation_p.W241R	p.W242R	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN			5	736	-			242					B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	c.724T>C	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.379989	0.42207	.	.	ENSG00000184544	ENST00000330255	D	0.86030	-2.06	4.92	4.92	0.64577	NAD(P)-binding domain (1);	0.887861	0.10290	N	0.692442	T	0.81654	0.4868	L	0.43152	1.355	0.44188	D	0.997	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.73193	-0.4060	10	0.41790	T	0.15	.	13.6875	0.62524	1.0:0.0:0.0:0.0	.	242;238	A6NNS2;B9EJH3	DRS7C_HUMAN;.	R	242	ENSP00000327975:W242R	ENSP00000327975:W242R	W	-	1	0	DHRS7C	9616815	1.000000	0.71417	0.945000	0.38365	0.947000	0.59692	5.285000	0.65633	2.059000	0.61396	0.533000	0.62120	TGG		0.557	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		9	36	0	0	0	1	0	9	36					G	9676090	A	G	9676090	3	3	477	1	0	0	0	0	1	0	0	0	4497	130	5	4	222	4	DHRS7C	17	9676090	Missense_Mutation	SNP	A	TCGA-ZG-A8QY-01A-11D-A377-08	1922950	9676090	71519120	58	32026											
SPOP	8405	broad.mit.edu	37	chr17	47696424	47696424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctacggatgaatttcttGaatccccagtctttgccttg	7	16	7	11	1	3	2	0	2	3	0	5	3	4	3	3	1	2	0	3	1	3	5	rs193921065		TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:47696424G>T	ENST00000393328.2	-	6	764	c.399C>A	c.(397-399)ttC>ttA	p.F133L	SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000393331.3_Missense_Mutation_p.F133L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			7	Substitution - Missense(7)	p.F133L(7)	prostate(7)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)ttC>ttA		speckle-type POZ protein							118	120	119					17																	47696424		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696424G>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.399C>A	17.37:g.47696424G>T	ENSP00000377001:p.Phe133Leu	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L	p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	869	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.399C>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981900	0.74474	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.41	4.33	0.51752	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.80847	2.515	0.80722	D	1	P	0.52692	0.955	P	0.55087	0.768	T	0.62732	-0.6792	10	0.44086	T	0.13	-9.6576	13.4952	0.61421	0.0813:0.0:0.9187:0.0	.	133	O43791	SPOP_HUMAN	L	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133L;ENSP00000377004:F133L;ENSP00000240327:F133L;ENSP00000425905:F133L;ENSP00000420908:F133L;ENSP00000426986:F133L;ENSP00000420960:F133L;ENSP00000426262:F133L;ENSP00000424119:F133L	ENSP00000240327:F133L	F	-	3	2	SPOP	45051423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.591000	0.36665	1.345000	0.45676	0.563000	0.77884	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		36	87	1	0	2.26627e-22	1	2.7261e-22	36	87					T	47696424	G	T	47696424	3	4	477	1	0	0	0	0	1	0	0	0	15083	1281	45	5	749	5	SPOP	17	47696424	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	38020334	47696424	33498786	59	32027											
GH1	2688	broad.mit.edu	37	chr17	61995198	61995198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagaggcgccgtacaccagGctgttggcgaagacactcct	9	7	12	13	3	1	2	1	0	0	2	2	3	2	2	3	3	1	3	3	3	2	2			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:61995198G>T	ENST00000323322.5	-	4	420	c.378C>A	c.(376-378)agC>agA	p.S126R	GH1_ENST00000351388.4_Missense_Mutation_p.S86R|GH1_ENST00000458650.2_Missense_Mutation_p.S111R|GH1_ENST00000342364.4_Intron|CSHL1_ENST00000392824.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	126					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						CGTACACCAGGCTGTTGGCGA	0.612																																						ENST00000323322.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						c.(376-378)agC>agA		growth hormone 1							67	66	66					17																	61995198		2203	4300	6503	SO:0001583	missense	2688				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	g.chr17:61995198G>T	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"Endogenous ligands"	4261	protein-coding gene	gene with protein product	"pituitary growth hormone", "somatotropin"	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.378C>A	17.37:g.61995198G>T	ENSP00000312673:p.Ser126Arg					GH1_ENST00000342364.4_Intron|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Missense_Mutation_p.S86R|GH1_ENST00000458650.2_Missense_Mutation_p.S111R	p.S126R	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN			4	420	-			126					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	c.378C>A	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	g	6.987	0.552185	0.13374	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388	D;D;D	0.90620	-2.7;-2.7;-2.7	2.86	2.86	0.33363	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.526860	0.21926	N	0.067084	D	0.88055	0.6334	M	0.68593	2.085	0.80722	D	1	B;B;B	0.24368	0.012;0.102;0.102	B;B;B	0.31290	0.049;0.127;0.127	D	0.86076	0.1541	10	0.66056	D	0.02	.	5.8888	0.18896	0.151:0.0:0.849:0.0	.	86;126;111	A6NEF6;P01241;B1A4G7	.;SOMA_HUMAN;.	R	126;111;86	ENSP00000312673:S126R;ENSP00000408486:S111R;ENSP00000343791:S86R	ENSP00000312673:S126R	S	-	3	2	GH1	59348930	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	1.284000	0.33249	1.594000	0.50039	0.298000	0.19748	AGC		0.612	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		20	65	1	0	8.00594e-06	1	8.74333e-06	20	65					T	61995198	G	T	61995198	3	4	477	1	0	0	0	0	1	0	0	0	6367	1194	42	5	283	5	GH1	17	61995198	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	14298774	61995198	19200012	60	32028											
FBN3	84467	broad.mit.edu	37	chr19	8175963	8175963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcaggcccggtggtcctCggtggggtcaaagcccatct	5	8	15	13	2	2	0	1	0	1	0	4	0	3	0	3	7	1	1	3	7	1	0			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr19:8175963C>T	ENST00000600128.1	-	33	4603	c.4189G>A	c.(4189-4191)Gag>Aag	p.E1397K	FBN3_ENST00000270509.2_Missense_Mutation_p.E1397K|FBN3_ENST00000601739.1_Missense_Mutation_p.E1397K			Q75N90	FBN3_HUMAN	fibrillin 3	1397	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			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						CGGTGGTCCTCGGTGGGGTCA	0.657																																						ENST00000600128.1																			0				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						c.(4189-4191)Gag>Aag		fibrillin 3							62	57	59					19																	8175963		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8175963C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4189G>A	19.37:g.8175963C>T	ENSP00000470498:p.Glu1397Lys					FBN3_ENST00000601739.1_Missense_Mutation_p.E1397K|FBN3_ENST00000270509.2_Missense_Mutation_p.E1397K	p.E1397K			Q75N90	FBN3_HUMAN			33	4603	-			1397			EGF-like 21; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4189G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	0.260	-1.000497	0.02128	.	.	ENSG00000142449	ENST00000270509	D	0.92199	-2.99	3.67	-1.96	0.07525	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.128416	0.50627	N	0.000106	T	0.80336	0.4604	N	0.25825	0.765	0.31902	N	0.615785	B	0.13594	0.008	B	0.15484	0.013	T	0.66760	-0.5842	10	0.10377	T	0.69	.	5.5826	0.17258	0.0:0.5014:0.2462:0.2524	.	1397	Q75N90	FBN3_HUMAN	K	1397	ENSP00000270509:E1397K	ENSP00000270509:E1397K	E	-	1	0	FBN3	8081963	0.050000	0.20438	0.054000	0.19295	0.041000	0.13682	0.455000	0.21843	-0.085000	0.12573	-0.368000	0.07277	GAG		0.657	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		13	11	0	0	0	1	0	13	11					T	8175963	C	T	8175963	3	4	477	1	0	0	0	0	1	0	0	0	5704	893	31	2	4368	2	FBN3	19	8175963	Missense_Mutation	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08		8175963	50953020	61	32029											
ZNF571	51276	broad.mit.edu	37	chr19	38056575	38056575	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttccacatttcttacatTcatatggtttctctcctgta	7	20	3	11	0	3	0	1	0	2	0	6	0	5	0	2	1	1	2	2	1	3	8			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr19:38056575T>G	ENST00000328550.2	-	4	854	c.755A>C	c.(754-756)gAa>gCa	p.E252A	ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.E252A|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.E252A|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000593133.1_Missense_Mutation_p.E252A			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	252			E -> D (in dbSNP:rs28512414). {ECO:0000269|PubMed:11042152}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCTTACATTCATATGGTTT	0.368																																						ENST00000328550.2																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(754-756)gAa>gCa		zinc finger protein 571							59	58	59					19																	38056575		2203	4297	6500	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056575T>G	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"Zinc fingers, C2H2-type", "-"	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.755A>C	19.37:g.38056575T>G	ENSP00000333660:p.Glu252Ala					ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.E252A|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.E252A|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.E252A	p.E252A			Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	854	-			252		E -> D (in dbSNP:rs28512414).			Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.755A>C	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.766864	0.31320	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.21932	1.98;1.98;1.98	3.87	2.81	0.32909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16685	0.0401	N	0.21240	0.645	0.21822	N	0.999521	B	0.20780	0.048	B	0.32211	0.142	T	0.32079	-0.9920	9	0.51188	T	0.08	.	8.7548	0.34639	0.0:0.0:0.3717:0.6283	.	252	Q7Z3V5	ZN571_HUMAN	A	252	ENSP00000333660:E252A;ENSP00000392638:E252A;ENSP00000351594:E252A	ENSP00000333660:E252A	E	-	2	0	ZNF571	42748415	0.000000	0.05858	0.991000	0.47740	0.916000	0.54674	0.127000	0.15790	0.501000	0.28013	0.260000	0.18958	GAA		0.368	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		14	22	0	0	0	1	0	14	22					G	38056575	T	G	38056575	3	3	477	1	0	0	0	0	1	0	0	0	18000	1783	62	5	1078	5	ZNF571	19	38056575	Missense_Mutation	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08	29880612	38056575	21072408	62	32030											
PSG3	5671	broad.mit.edu	37	chr19	43244510	43244510	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccaggtgatgcgctgtgtGcagggaggggctgagagggg	6	8	21	6	1	0	2	0	2	0	1	1	4	1	3	1	6	2	3	1	6	0	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr19:43244510G>A	ENST00000327495.5	-	1	211	c.27C>T	c.(25-27)tgC>tgT	p.C9C	PSG3_ENST00000595140.1_Silent_p.C9C|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	9					defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGCGCTGTGTGCAGGGAGGGG	0.607																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(25-27)tgC>tgT		pregnancy specific beta-1-glycoprotein 3							140	154	149					19																	43244510		1511	2707	4218	SO:0001819	synonymous_variant	5671				defense response|female pregnancy	extracellular region		g.chr19:43244510G>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.27C>T	19.37:g.43244510G>A						PSG3_ENST00000595140.1_Silent_p.C9C	p.C9C	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			1	211	-		Prostate(69;0.00682)	9					Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Silent	SNP	ENST00000327495.5	37	c.27C>T	CCDS12611.1																																																																																				0.607	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		44	113	0	0	0	1	0	44	113					A	43244510	G	A	43244510	2	1	477	1	0	0	0	0	0	0	0	1	12656	1311	46	3		3	PSG3	19	43244510	Silent	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	5187935	43244510	15884473	63	32031											
ERCC2	2068	broad.mit.edu	37	chr19	45856355	45856355	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaccaaagtcgattcccTcggacactttgccccgggcc	8	8	8	17	3	1	0	1	0	0	0	4	2	2	1	5	2	1	0	5	2	1	2			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr19:45856355T>C	ENST00000391945.4	-	19	1894	c.1817A>G	c.(1816-1818)gAg>gGg	p.E606G	ERCC2_ENST00000391944.3_Missense_Mutation_p.E528G	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	606	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GTCGATTCCCTCGGACACTTT	0.642			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"Mis, N, F, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"			E		"skin basal cell, skin squamous cell, melanoma"			0				large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(1816-1818)gAg>gGg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							53	54	53					19																	45856355		2203	4300	6503	SO:0001583	missense	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	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	g.chr19:45856355T>C		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"General transcription factor IIH complex subunits"	3434	protein-coding gene	gene with protein product	"excision repair cross-complementing rodent repair deficiency, complementation group 2 protein", "TFIIH basal transcription factor complex helicase XPB subunit"	126340	"xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2"	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1817A>G	19.37:g.45856355T>C	ENSP00000375809:p.Glu606Gly					ERCC2_ENST00000391944.3_Missense_Mutation_p.E528G	p.E606G	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	19	1894	-		Ovarian(192;0.0728)|all_neural(266;0.112)	606			Mediates interaction with MMS19.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.1817A>G	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.617044	0.66672	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	D;D	0.95518	-3.73;-3.73	5.65	5.65	0.86999	Helicase, ATP-dependent, c2 type (1);	0.050890	0.85682	D	0.000000	D	0.98877	0.9620	H	0.99758	4.755	0.80722	D	1	D;D;D	0.89917	0.987;0.974;1.0	D;D;D	0.97110	0.969;0.944;1.0	D	0.98988	1.0807	10	0.87932	D	0	-29.974	13.8286	0.63366	0.0:0.0:0.0:1.0	.	528;606;299	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	G	556;582;606;528	ENSP00000375809:E606G;ENSP00000375808:E528G	ENSP00000375805:E556G	E	-	2	0	ERCC2	50548195	1.000000	0.71417	0.977000	0.42913	0.066000	0.16364	5.422000	0.66453	2.154000	0.67381	0.459000	0.35465	GAG		0.642	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		19	40	0	0	0	1	0	19	40					C	45856355	T	C	45856355	3	2	477	1	0	0	0	0	1	0	0	0	5213	1551	54	4	485	4	ERCC2	19	45856355	Missense_Mutation	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08	2611845	45856355	13272628	64	32032											
CHD6	84181	broad.mit.edu	37	chr20	40126084	40126084	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aatcgcttgatcttctgtgcGatgcgaggatccttttcgag	7	14	11	9	4	2	1	0	1	2	0	5	5	3	2	1	1	2	1	1	1	1	4			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr20:40126084G>C	ENST00000373233.3	-	8	1209	c.1032C>G	c.(1030-1032)atC>atG	p.I344M	CHD6_ENST00000373222.3_3'UTR|CHD6_ENST00000309279.7_Missense_Mutation_p.I344M	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	344	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCTTCTGTGCGATGCGAGGAT	0.413																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(1030-1032)atC>atG		chromodomain helicase DNA binding protein 6							156	133	141					20																	40126084		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40126084G>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1032C>G	20.37:g.40126084G>C	ENSP00000362330:p.Ile344Met					CHD6_ENST00000373222.3_3'UTR|CHD6_ENST00000309279.7_Missense_Mutation_p.I344M	p.I344M	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			8	1209	-		Myeloproliferative disorder(115;0.00425)	344					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.1032C>G	CCDS13317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.62|17.62	3.435836|3.435836	0.62955|0.62955	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000373233;ENST00000309279|ENST00000440697	D;D|.	0.95205|.	-2.2;-3.64|.	5.48|5.48	2.51|2.51	0.30379|0.30379	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (1);|.	0.000000|.	0.56097|.	D|.	0.000030|.	T|T	0.65281|0.65281	0.2676|0.2676	M|M	0.81497|0.81497	2.545|2.545	0.42975|0.42975	D|D	0.994449|0.994449	D|.	0.76494|.	0.999|.	D|.	0.77004|.	0.989|.	T|T	0.61749|0.61749	-0.6999|-0.6999	10|5	0.87932|.	D|.	0|.	-14.3621|-14.3621	5.8674|5.8674	0.18783|0.18783	0.2746:0.0:0.6009:0.1245|0.2746:0.0:0.6009:0.1245	.|.	344|.	Q8TD26|.	CHD6_HUMAN|.	M|W	344|47	ENSP00000362330:I344M;ENSP00000308684:I344M|.	ENSP00000308684:I344M|.	I|S	-|-	3|2	3|0	CHD6|CHD6	39559498|39559498	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.561000|0.561000	0.23515|0.23515	0.296000|0.296000	0.22592|0.22592	0.655000|0.655000	0.94253|0.94253	ATC|TCG		0.413	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			22	83	0	0	0	1	0	22	83					C	40126084	G	C	40126084	3	2	477	1	0	0	0	0	1	0	0	0	3329	1048	37	5	7235	5	CHD6	20	40126084	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08		40126084	22899436	65	32033											
BTG3	10950	broad.mit.edu	37	chr21	18966461	18966461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgattccggtcacaatGcattccaggaggaggtaccc	10	8	11	12	1	1	1	1	1	0	0	3	3	3	3	4	4	2	2	4	4	2	3			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr21:18966461G>A	ENST00000348354.6	-	5	965	c.709C>T	c.(709-711)Cat>Tat	p.H237Y	BTG3_ENST00000339775.6_Missense_Mutation_p.H281Y	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	237					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		CGGTCACAATGCATTCCAGGA	0.413																																						ENST00000339775.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8						c.(841-843)Cat>Tat		BTG family, member 3							128	101	110					21																	18966461		2203	4299	6502	SO:0001583	missense	10950				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm		g.chr21:18966461G>A	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.709C>T	21.37:g.18966461G>A	ENSP00000284879:p.His237Tyr					BTG3_ENST00000348354.6_Missense_Mutation_p.H237Y	p.H281Y	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN		Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)	6	994	-			237					D3DSC4|Q53XV1|Q96ET7	Missense_Mutation	SNP	ENST00000348354.6	37	c.841C>T	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358816	0.41801	.	.	ENSG00000154640	ENST00000339775;ENST00000348354	.	.	.	3.88	3.88	0.44766	.	0.000000	0.49916	D	0.000130	T	0.20618	0.0496	N	0.08118	0	0.25058	N	0.991089	D;P	0.56968	0.978;0.659	P;B	0.47528	0.549;0.403	T	0.08827	-1.0703	9	0.87932	D	0	-18.7703	11.6489	0.51277	0.0:0.0:1.0:0.0	.	281;237	Q14201-2;Q14201	.;BTG3_HUMAN	Y	281;237	.	ENSP00000344609:H281Y	H	-	1	0	BTG3	17888332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.748000	0.38308	2.471000	0.83476	0.591000	0.81541	CAT		0.413	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806		22	55	0	0	0	1	0	22	55					A	18966461	G	A	18966461	3	1	477	1	0	0	0	0	1	0	0	0	1555	1319	46	3	53	3	BTG3	21	18966461	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08		18966461	29163434	66	32034											
HSCB	150274	broad.mit.edu	37	chr22	29141932	29141932	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatagaaataatggaaatCaatgaaaaactcgcagaagc	20	7	7	7	1	2	3	2	1	0	2	3	4	2	4	0	1	2	1	0	1	8	2			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr22:29141932C>G	ENST00000216027.3	+	4	569	c.504C>G	c.(502-504)atC>atG	p.I168M	HSCB_ENST00000398941.2_Intron|HSCB_ENST00000495977.1_3'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	168					iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|lung(2)|skin(1)	4						TAATGGAAATCAATGAAAAAC	0.373																																						ENST00000216027.3																			0				kidney(1)|lung(2)|skin(1)	4						c.(502-504)atC>atG		HscB mitochondrial iron-sulfur cluster co-chaperone							63	63	63					22																	29141932		2203	4300	6503	SO:0001583	missense	150274				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding	g.chr22:29141932C>G	AY191719	CCDS13845.1	22q12.1	2013-09-12	2013-09-12		ENSG00000100209	ENSG00000100209		"Heat shock proteins / DNAJ (HSP40)"	28913	protein-coding gene	gene with protein product	"DnaJ (Hsp40) homolog, subfamily C, member 20"	608142	"HscB iron-sulfur cluster co-chaperone homolog (E. coli)"			12938016, 16952052	Standard	NM_172002		Approved	HSC20, DNAJC20, Jac1	uc003aea.3	Q8IWL3	OTTHUMG00000151092	ENST00000216027.3:c.504C>G	22.37:g.29141932C>G	ENSP00000216027:p.Ile168Met					HSCB_ENST00000495977.1_3'UTR|HSCB_ENST00000398941.2_Intron	p.I168M	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN			4	569	+			168					Q9BWS7	Missense_Mutation	SNP	ENST00000216027.3	37	c.504C>G	CCDS13845.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308337	0.40895	.	.	ENSG00000100209	ENST00000216027	T	0.47528	0.84	5.79	-0.118	0.13547	Heat shock cognate protein B, C-terminal oligomerisation (3);	0.213057	0.48767	N	0.000176	T	0.34019	0.0883	L	0.38953	1.18	0.80722	D	1	B	0.30542	0.284	B	0.38655	0.278	T	0.06303	-1.0834	10	0.40728	T	0.16	-6.5361	2.5575	0.04764	0.141:0.4314:0.2734:0.1541	.	168	Q8IWL3	HSC20_HUMAN	M	168	ENSP00000216027:I168M	ENSP00000216027:I168M	I	+	3	3	HSCB	27471932	0.993000	0.37304	0.995000	0.50966	0.990000	0.78478	0.014000	0.13333	-0.128000	0.11641	0.557000	0.71058	ATC		0.373	HSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321263.1	NM_172002		15	44	0	0	0	1	0	15	44					G	29141932	C	G	29141932	3	3	477	1	0	0	0	0	1	0	0	0	7374	816	29	5	518	5	HSCB	22	29141932	Missense_Mutation	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08		29141932	22162634	67	32035											
FAM116B	414918	broad.mit.edu	37	chr22	50754487	50754487	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcggaggactggactcGgacttgtccaccctggatgg	6	10	14	11	2	0	0	0	0	0	0	3	5	1	5	2	6	1	1	2	6	0	2	rs372514489		TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr22:50754487G>A	ENST00000413817.3	-	8	740	c.669C>T	c.(667-669)tcC>tcT	p.S223S	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	223					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GACTGGACTCGGACTTGTCCA	0.627																																						ENST00000413817.2																			0											c.(667-669)tcC>tcT		DENN/MADD domain containing 6B		G		3,4171		0,3,2084	84	93	90		669	-9.2	0.1	22		90	0,8414		0,0,4207	no	coding-synonymous	FAM116B	NM_001001794.3		0,3,6291	AA,AG,GG		0.0,0.0719,0.0238		223/586	50754487	3,12585	2087	4207	6294	SO:0001819	synonymous_variant	414918							g.chr22:50754487G>A	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"DENN/MADD domain containing"	32690	protein-coding gene	gene with protein product			"family with sequence similarity 116, member B"	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.669C>T	22.37:g.50754487G>A							p.S223S	NM_001001794.3	NP_001001794.3					8	740	-								A6X8I5	Silent	SNP	ENST00000413817.3	37	c.669C>T	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	G	4.673	0.125119	0.08931	7.19E-4	0.0	ENSG00000205593	ENST00000433760	.	.	.	4.6	-9.21	0.00678	.	.	.	.	.	T	0.32010	0.0815	.	.	.	0.53688	D	0.999971	.	.	.	.	.	.	T	0.40534	-0.9558	4	.	.	.	-3.1209	1.0641	0.01607	0.1631:0.35:0.1768:0.3101	.	.	.	.	L	244	.	.	P	-	2	0	FAM116B	49097059	0.000000	0.05858	0.092000	0.20876	0.579000	0.36224	-2.940000	0.00683	-1.603000	0.01597	-0.658000	0.03865	CCG		0.627	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		33	87	0	0	0	1	0	33	87					A	50754487	G	A	50754487	2	1	477	1	0	0	0	0	0	0	0	1	5408	1103	39	2		2	FAM116B	22	50754487	Silent	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	21612555	50754487	550079	68	32036											
TCEAL8	90843	broad.mit.edu	37	chrX	102508606	102508606	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgaatgtctttgcttcCaatgcatcatcacaaacttg	10	14	7	10	1	3	1	2	1	1	0	4	1	4	1	1	0	4	2	1	0	3	3			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chrX:102508606C>T	ENST00000372685.3	-	3	538	c.302G>A	c.(301-303)tGg>tAg	p.W101*	TCEAL8_ENST00000360000.4_Nonsense_Mutation_p.W101*	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(2)|lung(1)|ovary(1)	4						TCTTTGCTTCCAATGCATCAT	0.408																																						ENST00000372685.3																			0				kidney(2)|lung(1)|ovary(1)	4						c.(301-303)tGg>tAg		transcription elongation factor A (SII)-like 8							217	164	182					X																	102508606		2203	4300	6503	SO:0001587	stop_gained	90843				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102508606C>T	AL833632	CCDS14504.1	Xq22.1	2014-03-21			ENSG00000180964	ENSG00000180964			28683	protein-coding gene	gene with protein product						16221301	Standard	NM_001006684		Approved	MGC45400, WEX3	uc004ejy.3	Q8IYN2	OTTHUMG00000022094	ENST00000372685.3:c.302G>A	X.37:g.102508606C>T	ENSP00000361770:p.Trp101*					TCEAL8_ENST00000360000.4_Nonsense_Mutation_p.W101*	p.W101*	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN			3	538	-			101						Nonsense_Mutation	SNP	ENST00000372685.3	37	c.302G>A	CCDS14504.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486701	0.84854	.	.	ENSG00000180964	ENST00000360000;ENST00000372685;ENST00000451678	.	.	.	4.52	4.52	0.55395	.	0.000000	0.44902	D	0.000415	.	.	.	.	.	.	0.46317	D	0.998987	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3525	11.5276	0.50588	0.0:1.0:0.0:0.0	.	.	.	.	X	101;101;68	.	ENSP00000353093:W101X	W	-	2	0	TCEAL8	102395262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.539000	0.36104	2.493000	0.84123	0.600000	0.82982	TGG		0.408	TCEAL8-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057698.1	NM_153333		28	25	0	0	0	1	0	28	25					T	102508606	C	T	102508606	4	4	477	1	0	0	0	0	0	1	0	0	15674	595	21	3	55	3	TCEAL8	23	102508606	Nonsense_Mutation	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08		102508606	52761954	69	32037											
TTC22	55001	broad.mit.edu	37	chr1	55266618	55266618	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtagaatgcgaaagcGcccaggaggtgacgcacagc	12	4	14	11	3	0	2	0	1	0	1	1	4	1	3	2	3	3	2	2	3	3	1			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr1:55266618G>A	ENST00000371276.4	-	1	322	c.219C>T	c.(217-219)ggC>ggT	p.G73G	TTC22_ENST00000371274.4_Silent_p.G73G	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	73										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						ATGCGAAAGCGCCCAGGAGGT	0.711																																						ENST00000371276.4																			0				kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						c.(217-219)ggC>ggT		tetratricopeptide repeat domain 22							9	11	10					1																	55266618		2176	4272	6448	SO:0001819	synonymous_variant	55001						binding	g.chr1:55266618G>A	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"Tetratricopeptide (TTC) repeat domain containing"	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.219C>T	1.37:g.55266618G>A						TTC22_ENST00000371274.4_Silent_p.G73G	p.G73G	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN			1	322	-			73					Q9NWT4	Silent	SNP	ENST00000371276.4	37	c.219C>T	CCDS44152.1																																																																																				0.711	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904		3	7	0	0	0	1	0	3	7					A	55266618	G	A	55266618	2	1	478	1	0	0	0	0	0	0	0	1	16686	1074	38	1		1	TTC22	1	55266618	Silent	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08		55266618	193984003	1	32038											
GBP5	115362	broad.mit.edu	37	chr1	89728373	89728374	+	Frame_Shift_Ins	INS	-	-	T																															ctttcttctcacctttcttcINStttttttccgtctctgtgag																										TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr1:89728373_89728374insT	ENST00000370459.3	-	9	1584_1585	c.1457_1458insA	c.(1456-1458)aagfs	p.K486fs	GBP5_ENST00000343435.5_Frame_Shift_Ins_p.K486fs|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000471171.1_5'Flank			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	486						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CACCTTTCTTCTTTTTTTCCGT	0.376																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(1456-1458)aaafs		guanylate binding protein 5																																				SO:0001589	frameshift_variant	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89728373_89728374insT	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1458dupA	1.37:g.89728380_89728380dupT	ENSP00000359488:p.Lys486fs					GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Frame_Shift_Ins_p.K486fs|RP4-620F22.2_ENST00000437128.1_RNA	p.K486fs	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	10	1993_1994	-			486					B2RCE1|Q86TM5	Frame_Shift_Ins	INS	ENST00000370459.3	37	c.1457_1458insA	CCDS722.1																																																																																				0.376	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		7	38						7	38	---	---	---	---	T	89728374	-	T	89728373	7	5	478	1	0	1	1	0	0	0	0	0	6277	912	32	0	314	0	GBP5	1	89728373	Frame_Shift_Ins	INS	-	TCGA-ZG-A8QZ-01A-11D-A377-08	34461755	89728373	159522248	2	32039											
CFHR3	10878	broad.mit.edu	37	chr1	196759243	196759243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcctttctactaaaaGtgtatgtgccacagtcaaga	12	11	6	12	0	2	1	1	0	1	1	3	1	3	1	4	0	2	1	4	0	5	4			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr1:196759243G>T	ENST00000367425.4	+	5	774	c.682G>T	c.(682-684)Gtg>Ttg	p.V228L	CFHR3_ENST00000391985.3_Missense_Mutation_p.V167L	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	228	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TCTACTAAAAGTGTATGTGCC	0.413																																						ENST00000367425.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(682-684)Gtg>Ttg		complement factor H-related 3							50	75	68					1																	196759243		1704	3978	5682	SO:0001583	missense	10878							g.chr1:196759243G>T	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"Complement system"	16980	protein-coding gene	gene with protein product	"complement factor H related 3"	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.682G>T	1.37:g.196759243G>T	ENSP00000356395:p.Val228Leu					CFHR3_ENST00000391985.3_Missense_Mutation_p.V167L	p.V228L	NM_021023.5	NP_066303.2					5	774	+								B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	c.682G>T	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	G	0.403	-0.917474	0.02396	.	.	ENSG00000116785	ENST00000367425;ENST00000391985	T;T	0.65178	-0.14;-0.14	3.25	-0.0888	0.13671	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.47563	0.1452	L	0.48218	1.51	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.17098	0.014;0.017	T	0.32322	-0.9911	9	0.27785	T	0.31	.	3.2516	0.06816	0.2791:0.2256:0.4953:0.0	.	167;228	B4DPR0;Q02985	.;FHR3_HUMAN	L	228;167	ENSP00000356395:V228L;ENSP00000375845:V167L	ENSP00000356395:V228L	V	+	1	0	CFHR3	195025866	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.160000	0.10041	0.025000	0.15241	0.175000	0.17021	GTG		0.413	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		10	80	1	0	3.27435e-08	1	3.86206e-08	10	80					T	196759243	G	T	196759243	3	4	478	1	0	0	0	0	1	0	0	0	3286	1029	36	5	700	5	CFHR3	1	196759243	Missense_Mutation	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08	107030870	196759243	52491378	3	32040											
ZNF238	10472	broad.mit.edu	37	chr1	244217201	244217201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactgttctggtgggagatgCccagttccgagcgcaccgag	7	8	14	12	3	1	1	0	0	1	1	2	4	2	1	3	2	2	3	3	2	0	2			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr1:244217201C>T	ENST00000358704.4	+	2	274	c.125C>T	c.(124-126)gCc>gTc	p.A42V		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	33	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTGGGAGATGCCCAGTTCCGA	0.488																																						ENST00000358704.4																			0											c.(124-126)gCc>gTc		zinc finger and BTB domain containing 18							111	99	103					1																	244217201		2203	4300	6503	SO:0001583	missense	10472							g.chr1:244217201C>T	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13030	protein-coding gene	gene with protein product		608433	"zinc finger protein 238"	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.125C>T	1.37:g.244217201C>T	ENSP00000351539:p.Ala42Val						p.A42V	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	274	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	c.125C>T	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632007	0.87660	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.67523	-0.27	5.22	5.22	0.72569	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	N	0.16201	0.385	0.80722	D	1	D;D;B	0.69078	0.997;0.995;0.302	D;D;P	0.79108	0.992;0.925;0.472	T	0.61874	-0.6973	10	0.09590	T	0.72	.	18.7662	0.91874	0.0:1.0:0.0:0.0	.	42;33;42	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	V	42	ENSP00000351539:A42V	ENSP00000351539:A42V	A	+	2	0	ZNF238	242283824	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.818000	0.86416	2.432000	0.82394	0.655000	0.94253	GCC		0.488	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		3	38	0	0	0	1	0	3	38					T	244217201	C	T	244217201	3	4	478	1	0	0	0	0	1	0	0	0	17787	739	26	3	131	3	ZNF238	1	244217201	Missense_Mutation	SNP	C	TCGA-ZG-A8QZ-01A-11D-A377-08	47457958	244217201	5033420	4	32041											
BIRC6	57448	broad.mit.edu	37	chr2	32740210	32740210	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccagtgcaatgtcaTcatagactgtccatgacaga	11	10	7	13	0	2	3	2	1	0	2	5	3	5	3	4	0	1	1	4	0	2	1			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr2:32740210T>A	ENST00000421745.2	+	55	10856	c.10722T>A	c.(10720-10722)caT>caA	p.H3574Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3574					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			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)					TGCAATGTCATCATAGACTGT	0.418																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				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						c.(10720-10722)caT>caA		baculoviral IAP repeat containing 6							108	103	104					2																	32740210		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32740210T>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10722T>A	2.37:g.32740210T>A	ENSP00000393596:p.His3574Gln						p.H3574Q	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			55	10856	+	Acute lymphoblastic leukemia(172;0.155)		3574					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10722T>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	t	8.137	0.784283	0.16189	.	.	ENSG00000115760	ENST00000421745	T	0.73152	-0.72	5.68	-0.672	0.11377	.	0.113529	0.64402	D	0.000010	T	0.35566	0.0936	N	0.03115	-0.41	0.35324	D	0.784996	B	0.02656	0.0	B	0.04013	0.001	T	0.03403	-1.1040	10	0.30078	T	0.28	.	0.3544	0.00354	0.2268:0.2345:0.1779:0.3608	.	3574	Q9NR09	BIRC6_HUMAN	Q	3574	ENSP00000393596:H3574Q	ENSP00000393596:H3574Q	H	+	3	2	BIRC6	32593714	0.997000	0.39634	0.909000	0.35828	0.761000	0.43186	0.587000	0.23909	-0.136000	0.11475	-0.221000	0.12465	CAT		0.418	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		5	15	0	0	0	1	0	5	15					A	32740210	T	A	32740210	3	1	478	1	0	0	0	0	1	0	0	0	1438	1432	50	5	10940	5	BIRC6	2	32740210	Missense_Mutation	SNP	T	TCGA-ZG-A8QZ-01A-11D-A377-08		32740210	210459163	5	32042											
MOGS	7841	broad.mit.edu	37	chr2	74688764	74688764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctccagagatggcggctgtCggctagaatgtccagcaggg	8	7	16	10	2	0	2	0	0	0	2	3	3	2	2	2	4	1	4	2	4	2	1			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr2:74688764C>T	ENST00000233616.4	-	4	2314	c.2152G>A	c.(2152-2154)Gac>Aac	p.D718N	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.D612N|MOGS_ENST00000462443.1_5'Flank	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	718					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TGGCGGCTGTCGGCTAGAATG	0.582																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(2152-2154)Gac>Aac		mannosyl-oligosaccharide glucosidase							35	44	41					2																	74688764		2000	4187	6187	SO:0001583	missense	7841				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	g.chr2:74688764C>T	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"glucosidase I", "processing A-glucosidase I"	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.2152G>A	2.37:g.74688764C>T	ENSP00000233616:p.Asp718Asn					MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.D612N	p.D718N	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	2314	-			718					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.2152G>A	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026266	0.75390	.	.	ENSG00000115275	ENST00000233616;ENST00000452063	T;T	0.48836	0.8;0.8	5.15	5.15	0.70609	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	L	0.50993	1.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56335	-0.7996	10	0.30854	T	0.27	-20.915	16.1595	0.81693	0.0:1.0:0.0:0.0	.	718	Q13724	MOGS_HUMAN	N	718;612	ENSP00000233616:D718N;ENSP00000388201:D612N	ENSP00000233616:D718N	D	-	1	0	MOGS	74542272	0.999000	0.42202	0.998000	0.56505	0.971000	0.66376	4.074000	0.57577	2.687000	0.91594	0.563000	0.77884	GAC		0.582	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		3	42	0	0	0	1	0	3	42					T	74688764	C	T	74688764	3	4	478	1	0	0	0	0	1	0	0	0	9697	884	31	2	365	2	MOGS	2	74688764	Missense_Mutation	SNP	C	TCGA-ZG-A8QZ-01A-11D-A377-08	41948554	74688764	168510609	6	32043											
WDR48	57599	broad.mit.edu	37	chr3	39104561	39104561	+	Frame_Shift_Del	DEL	T	T	-																															gtttcctatgttattcgagaTgaagtggagaagtacaaccg																										TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr3:39104561delT	ENST00000302313.5	+	2	97	c.69delT	c.(67-69)gatfs	p.D23fs	WDR48_ENST00000396258.3_5'UTR|WDR48_ENST00000544962.1_Intron|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	23					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTATTCGAGATGAAGTGGAGA	0.388																																						ENST00000302313.5																			0				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(67-69)gafs		WD repeat domain 48							97	95	96					3																	39104561		2203	4300	6503	SO:0001589	frameshift_variant	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39104561delT	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.69delT	3.37:g.39104561delT	ENSP00000307491:p.Asp23fs					WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000544962.1_Intron|WDR48_ENST00000396258.3_5'UTR	p.D23fs	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	2	97	+			23					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Frame_Shift_Del	DEL	ENST00000302313.5	37	c.69delT	CCDS33738.1																																																																																				0.388	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		15	73						15	73	---	---	---	---	-	39104561	T	-	39104561	7	5	478	1	0	1	0	1	0	0	0	0	17298	1461	51	0	75	0	WDR48	3	39104561	Frame_Shift_Del	DEL	T	TCGA-ZG-A8QZ-01A-11D-A377-08		39104561	158917869	7	32044											
ROBO2	6092	broad.mit.edu	37	chr3	77147467	77147467	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcttggtgaagcagtgagtCgaaatgcgtctctggaagtg	10	11	14	6	2	2	2	0	2	2	0	4	4	2	3	0	2	2	1	0	2	3	1			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr3:77147467C>T	ENST00000461745.1	+	2	1264	c.364C>T	c.(364-366)Cga>Tga	p.R122*	ROBO2_ENST00000332191.8_Nonsense_Mutation_p.R122*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.R138*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	122	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.R122*(2)|p.R138*(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)		AGCAGTGAGTCGAAATGCGTC	0.423																																						ENST00000461745.1																			3	Substitution - Nonsense(3)	p.R122*(2)|p.R138*(1)	central_nervous_system(2)|large_intestine(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						c.(364-366)Cga>Tga		roundabout, axon guidance receptor, homolog 2 (Drosophila)							92	94	94					3																	77147467		2039	4196	6235	SO:0001587	stop_gained	6092				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	g.chr3:77147467C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.364C>T	3.37:g.77147467C>T	ENSP00000417164:p.Arg122*					ROBO2_ENST00000487694.3_Nonsense_Mutation_p.R138*|ROBO2_ENST00000332191.8_Nonsense_Mutation_p.R122*	p.R122*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		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)	2	1264	+			122			Ig-like C2-type 1.		O43608|Q19AB4|Q19AB5	Nonsense_Mutation	SNP	ENST00000461745.1	37	c.364C>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100605	0.56183	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	.	.	.	5.59	5.59	0.84812	.	0.000000	0.33419	U	0.004933	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5872	0.95495	0.0:1.0:0.0:0.0	.	.	.	.	X	138;138;138;122;122	.	ENSP00000327536:R122X	R	+	1	2	ROBO2	77230157	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	6.070000	0.71220	2.628000	0.89032	0.655000	0.94253	CGA		0.423	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		5	33	0	0	0	1	0	5	33					T	77147467	C	T	77147467	4	4	478	1	0	0	0	0	0	1	0	0	13514	894	31	2	372	2	ROBO2	3	77147467	Nonsense_Mutation	SNP	C	TCGA-ZG-A8QZ-01A-11D-A377-08	38042906	77147467	120874963	8	32045											
OR5K3	403277	broad.mit.edu	37	chr3	98109899	98109899	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggccatatgcaacccactGcagtaccacaccatgatgtc	11	8	8	14	0	0	1	0	1	0	0	1	1	0	1	4	1	4	3	4	1	3	2			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr3:98109899G>A	ENST00000383695.1	+	1	390	c.390G>A	c.(388-390)ctG>ctA	p.L130L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						GCAACCCACTGCAGTACCACA	0.473																																						ENST00000383695.1																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(388-390)ctG>ctA		olfactory receptor, family 5, subfamily K, member 3							168	156	160					3																	98109899		2203	4300	6503	SO:0001819	synonymous_variant	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109899G>A		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"GPCR / Class A : Olfactory receptors"	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.390G>A	3.37:g.98109899G>A						RP11-325B23.2_ENST00000508616.1_lincRNA	p.L130L	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN			1	390	+			130						Silent	SNP	ENST00000383695.1	37	c.390G>A	CCDS33803.1																																																																																				0.473	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			16	67	0	0	0	1	0	16	67					A	98109899	G	A	98109899	2	1	478	1	0	0	0	0	0	0	0	1	11168	1306	46	3		3	OR5K3	3	98109899	Silent	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08	20962432	98109899	99912531	9	32046											
HEG1	57493	broad.mit.edu	37	chr3	124729320	124729320	+	Frame_Shift_Del	DEL	C	C	-																															ccttgccaggaaggcgggcaCctgcagtggtagccacggct																										TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr3:124729320delC	ENST00000311127.4	-	7	3103	c.3036delG	c.(3034-3036)aggfs	p.R1012fs	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1012	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AAGGCGGGCACCTGCAGTGGT	0.537																																						ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(3034-3036)agfs		heart development protein with EGF-like domains 1							39	41	40					3																	124729320		1938	4123	6061	SO:0001589	frameshift_variant	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124729320delC	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.3036delG	3.37:g.124729320delC	ENSP00000311502:p.Arg1012fs						p.R1012fs	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			7	3103	-			1012			EGF-like 1.		Q6NX66|Q8NC40|Q9BSV0	Frame_Shift_Del	DEL	ENST00000311127.4	37	c.3036delG	CCDS46898.1																																																																																				0.537	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		2	4						2	4	---	---	---	---	-	124729320	C	-	124729320	7	5	478	1	0	1	0	1	0	0	0	0	7044	506	18	0	1153	0	HEG1	3	124729320	Frame_Shift_Del	DEL	C	TCGA-ZG-A8QZ-01A-11D-A377-08	26619421	124729320	73293110	10	32047											
ZNF827	152485	broad.mit.edu	37	chr4	146686246	146686246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaacatccgggtgatgaGgtgtatctgcagatgacgct	10	10	12	9	2	2	4	1	3	1	1	3	4	3	4	1	2	2	3	1	2	2	1			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr4:146686246G>A	ENST00000508784.1	-	13	3351	c.3124C>T	c.(3124-3126)Ctc>Ttc	p.L1042F	ZNF827_ENST00000513320.1_Missense_Mutation_p.L692F|ZNF827_ENST00000379448.4_Missense_Mutation_p.L1042F			Q17R98	ZN827_HUMAN	zinc finger protein 827	1042					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)					CGGGTGATGAGGTGTATCTGC	0.502																																						ENST00000508784.1																			0				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						c.(3124-3126)Ctc>Ttc		zinc finger protein 827							104	96	99					4																	146686246		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146686246G>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.3124C>T	4.37:g.146686246G>A	ENSP00000421863:p.Leu1042Phe					ZNF827_ENST00000379448.4_Missense_Mutation_p.L1042F|ZNF827_ENST00000513320.1_Missense_Mutation_p.L692F	p.L1042F			Q17R98	ZN827_HUMAN			13	3351	-	all_hematologic(180;0.151)		1042					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.3124C>T		.	.	.	.	.	.	.	.	.	.	G	18.75	3.689834	0.68271	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.61040	0.14;0.14;0.14	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.70570	0.3239	L	0.43152	1.355	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.87578	0.996;0.998;0.996;0.991	T	0.73288	-0.4030	10	0.62326	D	0.03	-13.2564	18.3139	0.90210	0.0:0.0:1.0:0.0	.	692;1042;1042;692	G5E9Z1;Q17R98;Q17R98-2;E7ESI8	.;ZN827_HUMAN;.;.	F	1042;692;1042;1041;692	ENSP00000421863:L1042F;ENSP00000423130:L692F;ENSP00000368761:L1042F	ENSP00000281318:L1041F	L	-	1	0	ZNF827	146905696	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.606000	0.82863	2.368000	0.80403	0.655000	0.94253	CTC		0.502	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		8	50	0	0	0	1	0	8	50					A	146686246	G	A	146686246	3	1	478	1	0	0	0	0	1	0	0	0	18177	1000	35	3	113	3	ZNF827	4	146686246	Missense_Mutation	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08		146686246	44468030	11	32048											
PCDHB7	56129	broad.mit.edu	37	chr5	140553634	140553634	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctatactctggtaacagaGaaacctttggatcgagagag	13	11	10	7	1	2	2	0	0	2	2	3	6	2	3	1	2	3	1	1	2	4	5			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:140553634G>C	ENST00000231137.3	+	1	1392	c.1218G>C	c.(1216-1218)gaG>gaC	p.E406D		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTAACAGAGAAACCTTTGG	0.502																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1216-1218)gaG>gaC									99	95	96					5																	140553634		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553634G>C	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1218G>C	5.37:g.140553634G>C	ENSP00000231137:p.Glu406Asp						p.E406D	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1392	+			406			Cadherin 4.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1218G>C	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	2.229	-0.376589	0.05000	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.52295	0.67	4.61	-1.16	0.09678	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.22475	0.0542	N	0.10874	0.06	0.09310	N	1	B	0.21071	0.051	B	0.27887	0.084	T	0.21930	-1.0231	9	0.27082	T	0.32	.	1.2843	0.02047	0.2003:0.3171:0.2654:0.2171	.	406	Q9Y5E2	PCDB7_HUMAN	D	406;189	ENSP00000231137:E406D	ENSP00000231137:E406D	E	+	3	2	PCDHB7	140533818	0.000000	0.05858	0.146000	0.22360	0.718000	0.41266	-3.014000	0.00646	-0.142000	0.11354	0.650000	0.86243	GAG		0.502	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		11	33	0	0	0	1	0	11	33					C	140553634	G	C	140553634	3	2	478	1	0	0	0	0	1	0	0	0	11547	933	33	5	1220	5	PCDHB7	5	140553634	Missense_Mutation	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08		140553634	40361626	12	32049											
HDAC3	8841	broad.mit.edu	37	chr5	141009253	141009253	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctcctgggctacttacttGagcagctccaggatgccaat	8	11	9	13	0	0	1	0	1	0	0	3	2	3	2	4	2	5	3	4	2	3	3			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:141009253G>C	ENST00000305264.3	-	6	553	c.474C>G	c.(472-474)ctC>ctG	p.L158L		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	158	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CTACTTACTTGAGCAGCTCCA	0.532																																						ENST00000305264.3																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13						c.(472-474)ctC>ctG		histone deacetylase 3	Vorinostat(DB02546)						107	107	107					5																	141009253		2203	4300	6503	SO:0001819	synonymous_variant	8841				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	g.chr5:141009253G>C	AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.474C>G	5.37:g.141009253G>C							p.L158L	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	553	-			158			Histone deacetylase.		D3DQE1|O43268|Q9UEI5|Q9UEV0	Silent	SNP	ENST00000305264.3	37	c.474C>G	CCDS4264.1																																																																																				0.532	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2	NM_003883		9	57	0	0	0	1	0	9	57					C	141009253	G	C	141009253	2	2	478	1	0	0	0	0	0	0	0	1	7008	1277	45	5		5	HDAC3	5	141009253	Silent	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08	455619	141009253	39906007	13	32050											
FAT2	2196	broad.mit.edu	37	chr5	150922533	150922533	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtagatgactggatcttGagctgccactgctttaacaa	11	12	9	9	0	1	3	0	2	1	1	1	4	1	4	1	1	4	3	1	1	3	4			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:150922533G>C	ENST00000261800.5	-	9	8167	c.8155C>G	c.(8155-8157)Caa>Gaa	p.Q2719E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2719	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			ACTGGATCTTGAGCTGCCACT	0.478																																						ENST00000261800.5																			0				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						c.(8155-8157)Caa>Gaa		FAT atypical cadherin 2							70	72	71					5																	150922533		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922533G>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8155C>G	5.37:g.150922533G>C	ENSP00000261800:p.Gln2719Glu						p.Q2719E	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8167	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2719			Cadherin 24.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.8155C>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	6.267	0.417466	0.11870	.	.	ENSG00000086570	ENST00000261800	T	0.50548	0.74	5.38	4.49	0.54785	Cadherin (4);Cadherin-like (1);	0.308863	0.26979	N	0.021522	T	0.27027	0.0662	N	0.15975	0.35	0.34854	D	0.741967	B	0.06786	0.001	B	0.10450	0.005	T	0.27054	-1.0085	10	0.21540	T	0.41	.	8.1351	0.31050	0.0:0.302:0.5717:0.1263	.	2719	Q9NYQ8	FAT2_HUMAN	E	2719	ENSP00000261800:Q2719E	ENSP00000261800:Q2719E	Q	-	1	0	FAT2	150902726	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.649000	0.54417	2.526000	0.85167	0.462000	0.41574	CAA		0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		34	72	0	0	0	1	0	34	72					C	150922533	G	C	150922533	3	2	478	1	0	0	0	0	1	0	0	0	5690	1299	45	5	4954	5	FAT2	5	150922533	Missense_Mutation	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08	9913280	150922533	29992727	14	32051											
GRIA1	2890	broad.mit.edu	37	chr5	153144077	153144077	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atatacagccaatctggccgCcttcctgaccgtggagagga	10	8	11	12	2	1	2	0	1	1	1	2	4	2	3	5	3	2	0	5	3	3	3			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:153144077C>A	ENST00000285900.5	+	12	2250	c.1907C>A	c.(1906-1908)gCc>gAc	p.A636D	GRIA1_ENST00000518142.1_Missense_Mutation_p.A556D|GRIA1_ENST00000521843.2_Missense_Mutation_p.A567D|GRIA1_ENST00000448073.4_Missense_Mutation_p.A646D|GRIA1_ENST00000340592.5_Missense_Mutation_p.A636D|GRIA1_ENST00000518783.1_Missense_Mutation_p.A646D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	636					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AATCTGGCCGCCTTCCTGACC	0.547																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1906-1908)gCc>gAc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						121	102	109					5																	153144077		2203	4300	6503	SO:0001583	missense	0				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	g.chr5:153144077C>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1907C>A	5.37:g.153144077C>A	ENSP00000285900:p.Ala636Asp					GRIA1_ENST00000518783.1_Missense_Mutation_p.A646D|GRIA1_ENST00000518142.1_Missense_Mutation_p.A556D|GRIA1_ENST00000448073.4_Missense_Mutation_p.A646D|GRIA1_ENST00000521843.2_Missense_Mutation_p.A567D|GRIA1_ENST00000340592.5_Missense_Mutation_p.A636D	p.A636D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		12	2250	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	636					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1907C>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031102	0.93575	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.26	5.26	0.73747	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.88665	0.6498	H	0.97465	4.01	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.92717	0.6188	10	0.87932	D	0	.	17.8377	0.88704	0.0:1.0:0.0:0.0	.	646;646;556;636;636	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	D	636;636;556;590;636;569;567;646;646	ENSP00000285900:A636D;ENSP00000427920:A556D;ENSP00000339343:A636D;ENSP00000427864:A569D;ENSP00000442108:A567D;ENSP00000428994:A646D;ENSP00000415569:A646D	ENSP00000285900:A636D	A	+	2	0	GRIA1	153124270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.642000	0.83385	2.443000	0.82685	0.555000	0.69702	GCC		0.547	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			3	47	1	0	0.115264	1	0.120503	3	47					A	153144077	C	A	153144077	3	1	478	1	0	0	0	0	1	0	0	0	6767	739	26	5	1953	5	GRIA1	5	153144077	Missense_Mutation	SNP	C	TCGA-ZG-A8QZ-01A-11D-A377-08	2221544	153144077	27771183	15	32052											
MYLK4	340156	broad.mit.edu	37	chr6	2680489	2680489	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatcaataatttttatttGcttagcatcccgattcacac	14	15	3	9	1	2	0	2	0	0	0	3	1	3	0	1	0	2	2	1	0	6	7			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr6:2680489G>A	ENST00000274643.7	-	8	1066	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	MYLK4_ENST00000268446.5_Intron	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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)				ATTTTTATTTGCTTAGCATCC	0.418																																						ENST00000274643.7																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(724-726)Caa>Taa		myosin light chain kinase family, member 4							183	186	185					6																	2680489		2203	4300	6503	SO:0001587	stop_gained	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2680489G>A		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"caMLCK like"						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.724C>T	6.37:g.2680489G>A	ENSP00000274643:p.Gln242*					MYLK4_ENST00000268446.5_Intron	p.Q242*	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN			8	1066	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	242			Protein kinase.		A2RUC0|Q5TAW2	Nonsense_Mutation	SNP	ENST00000274643.7	37	c.724C>T	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	G	40	7.983276	0.98594	.	.	ENSG00000145949	ENST00000274643	.	.	.	5.54	5.54	0.83059	.	0.000000	0.44483	D	0.000460	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	18.8444	0.92198	0.0:0.0:1.0:0.0	.	.	.	.	X	242	.	ENSP00000274643:Q242X	Q	-	1	0	MYLK4	2625488	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.062000	0.57492	2.758000	0.94735	0.655000	0.94253	CAA		0.418	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		21	80	0	0	0	1	0	21	80					A	2680489	G	A	2680489	4	1	478	1	0	0	0	0	0	1	0	0	10059	1328	46	3	462	3	MYLK4	6	2680489	Nonsense_Mutation	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08		2680489	168434578	16	32053											
TNXB	7148	broad.mit.edu	37	chr6	32013021	32013021	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggggttgtgtcggtcacGgtcagcactcctaggcgggg	4	10	17	10	3	3	0	2	0	1	0	5	0	4	0	1	7	1	2	1	7	1	2			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr6:32013021G>A	ENST00000375244.3	-	32	10890	c.10689C>T	c.(10687-10689)acC>acT	p.T3563T	TNXB_ENST00000375247.2_Silent_p.T3561T|TNXB_ENST00000451343.1_5'UTR			P22105	TENX_HUMAN	tenascin XB	3608	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTCGGTCACGGTCAGCACTC	0.647																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10687-10689)acC>acT		tenascin XB							13	12	12					6																	32013021		1483	2653	4136	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32013021G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10689C>T	6.37:g.32013021G>A						TNXB_ENST00000451343.1_5'UTR|TNXB_ENST00000375247.2_Silent_p.T3561T	p.T3563T			P22105	TENX_HUMAN			32	10890	-			3608			Fibronectin type-III 27.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.10689C>T																																																																																					0.647	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		3	25	0	0	0	1	0	3	25					A	32013021	G	A	32013021	2	1	478	1	0	0	0	0	0	0	0	1	16343	1103	39	2		2	TNXB	6	32013021	Silent	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08	29332532	32013021	139102046	17	32054											
TTLL2	83887	broad.mit.edu	37	chr6	167754223	167754223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttatcaggaagggttggttCggtttgccacggaaaagttt	9	14	13	5	2	1	0	1	0	0	0	2	2	1	2	1	5	1	4	1	5	4	6	rs200167585		TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr6:167754223C>T	ENST00000239587.5	+	3	923	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	279	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGGGTTGGTTCGGTTTGCCAC	0.398																																						ENST00000239587.5																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(835-837)Cgg>Tgg		tubulin tyrosine ligase-like family, member 2							167	171	170					6																	167754223		2203	4300	6503	SO:0001583	missense	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754223C>T	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"Tubulin tyrosine ligase-like family"	21211	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 104"	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.835C>T	6.37:g.167754223C>T	ENSP00000239587:p.Arg279Trp						p.R279W	NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	923	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	279			TTL.		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.835C>T	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	C	9.182	1.023728	0.19433	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.17854	2.25	3.59	2.71	0.32032	.	0.000000	0.56097	D	0.000022	T	0.37265	0.0997	H	0.97491	4.015	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34900	-0.9810	10	0.87932	D	0	.	4.7879	0.13234	0.3186:0.5706:0.0:0.1108	.	279	Q9BWV7	TTLL2_HUMAN	W	279;206	ENSP00000239587:R279W	ENSP00000239587:R279W	R	+	1	2	TTLL2	167674213	0.961000	0.32948	0.001000	0.08648	0.021000	0.10359	0.400000	0.20932	0.833000	0.34828	0.484000	0.47621	CGG		0.398	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		33	88	0	0	0	1	0	33	88					T	167754223	C	T	167754223	3	4	478	1	0	0	0	0	1	0	0	0	16724	875	31	2	845	2	TTLL2	6	167754223	Missense_Mutation	SNP	C	TCGA-ZG-A8QZ-01A-11D-A377-08	135741202	167754223	3360844	18	32055											
PAPOLB	56903	broad.mit.edu	37	chr7	4901353	4901353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtccgtctccttggggaccGctagactgataggcgaggag	8	8	15	10	3	1	2	0	1	1	1	3	5	2	4	3	4	0	1	3	4	2	3			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr7:4901353G>A	ENST00000404991.1	-	1	272	c.86C>T	c.(85-87)gCg>gTg	p.A29V	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	29					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			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)		CTTGGGGACCGCTAGACTGAT	0.627																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(85-87)gCg>gTg		poly(A) polymerase beta (testis specific)							15	15	15					7																	4901353		1953	4140	6093	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4901353G>A	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.86C>T	7.37:g.4901353G>A	ENSP00000384700:p.Ala29Val					RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	p.A29V	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	272	-		Ovarian(82;0.0175)	29					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.86C>T		.	.	.	.	.	.	.	.	.	.	G	10.02	1.236454	0.22711	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.13	3.22	0.36961	.	.	.	.	.	T	0.55816	0.1944	M	0.80616	2.505	0.53688	D	0.999973	P	0.35348	0.496	B	0.29353	0.101	T	0.63422	-0.6641	8	0.66056	D	0.02	.	11.3153	0.49388	0.0:0.0:0.8166:0.1834	.	30	A4D1Z6	.	V	29	.	ENSP00000384700:A29V	A	-	2	0	PAPOLB	4867879	1.000000	0.71417	0.160000	0.22671	0.036000	0.12997	3.744000	0.55112	1.290000	0.44636	0.655000	0.94253	GCG		0.627	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		4	16	0	0	0	1	0	4	16					A	4901353	G	A	4901353	3	1	478	1	0	0	0	0	1	0	0	0	11430	1087	38	1	1828	1	PAPOLB	7	4901353	Missense_Mutation	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08		4901353	154237310	19	32056											
C7orf52	375607	broad.mit.edu	37	chr7	100817842	100817842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggagccagctgtggtagcGgctaggaaggtagtccaggc	8	6	17	10	2	0	0	0	0	0	0	1	2	1	2	3	6	3	4	3	6	4	3			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr7:100817842G>A	ENST00000300303.2	-	2	485	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	NAT16_ENST00000443096.1_Missense_Mutation_p.R83C|NAT16_ENST00000455377.1_Missense_Mutation_p.R83C	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	83	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)										CTGTGGTAGCGGCTAGGAAGG	0.687																																						ENST00000300303.2																			0											c.(247-249)Cgc>Tgc		N-acetyltransferase 16 (GCN5-related, putative)							37	32	34					7																	100817842		2192	4287	6479	SO:0001583	missense	375607						N-acetyltransferase activity	g.chr7:100817842G>A	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"chromosome 7 open reading frame 52"	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.247C>T	7.37:g.100817842G>A	ENSP00000300303:p.Arg83Cys					NAT16_ENST00000455377.1_Missense_Mutation_p.R83C|NAT16_ENST00000443096.1_Missense_Mutation_p.R83C	p.R83C	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN			2	485	-			83			N-acetyltransferase.		B3KRS2|Q8NDR1	Missense_Mutation	SNP	ENST00000300303.2	37	c.247C>T	CCDS5713.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849069	0.51270	.	.	ENSG00000167011	ENST00000300303;ENST00000455377;ENST00000444446;ENST00000443096	T;T;T;T	0.50001	0.92;0.92;0.92;0.76	3.72	1.66	0.24008	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.083989	0.43919	N	0.000520	T	0.33352	0.0860	L	0.43152	1.355	0.35761	D	0.820161	B;B	0.33266	0.105;0.404	B;B	0.27170	0.025;0.077	T	0.43048	-0.9415	10	0.87932	D	0	.	7.0291	0.24956	0.2655:0.0:0.7345:0.0	.	83;83	B3KRS2;Q8N8M0	.;CG052_HUMAN	C	83	ENSP00000300303:R83C;ENSP00000395125:R83C;ENSP00000391769:R83C;ENSP00000394435:R83C	ENSP00000300303:R83C	R	-	1	0	C7orf52	100604562	0.995000	0.38212	0.199000	0.23439	0.935000	0.57460	0.539000	0.23175	0.771000	0.33359	0.407000	0.27541	CGC		0.687	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		6	17	0	0	0	1	0	6	17					A	100817842	G	A	100817842	3	1	478	1	0	0	0	0	1	0	0	0	2401	1116	39	2	874	2	C7orf52	7	100817842	Missense_Mutation	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08	95916489	100817842	58320821	20	32057											
FREM1	158326	broad.mit.edu	37	chr9	14805023	14805023	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attataatagaaaatggtatCtccaaggagtgatgcttccc	14	12	8	7	0	1	2	0	1	1	1	3	3	2	3	2	2	1	2	2	2	7	5			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr9:14805023C>A	ENST00000380880.3	-	19	4185	c.3402G>T	c.(3400-3402)gaG>gaT	p.E1134D	FREM1_ENST00000380881.4_Missense_Mutation_p.E1135D|FREM1_ENST00000422223.2_Missense_Mutation_p.E1134D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1134					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAAATGGTATCTCCAAGGAGT	0.413																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3403-3405)gaG>gaT		FRAS1 related extracellular matrix 1							139	137	137					9																	14805023		1910	4131	6041	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14805023C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3402G>T	9.37:g.14805023C>A	ENSP00000370262:p.Glu1134Asp					FREM1_ENST00000422223.2_Missense_Mutation_p.E1134D|FREM1_ENST00000380880.3_Missense_Mutation_p.E1134D	p.E1135D			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	20	4220	-			1134					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.3405G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	5.174	0.217737	0.09810	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.44083	0.93;0.93;0.93	5.42	0.467	0.16721	.	0.350198	0.32785	N	0.005651	T	0.35770	0.0943	M	0.71036	2.16	0.09310	N	0.999999	P	0.37864	0.61	B	0.38616	0.277	T	0.21211	-1.0252	10	0.17832	T	0.49	-12.9579	6.965	0.24617	0.0:0.5191:0.1206:0.3602	.	1134	Q5H8C1	FREM1_HUMAN	D	1135;1134;1134	ENSP00000370263:E1135D;ENSP00000412940:E1134D;ENSP00000370262:E1134D	ENSP00000370257:E1137D	E	-	3	2	FREM1	14795023	0.190000	0.23276	0.021000	0.16686	0.104000	0.19210	0.004000	0.13106	0.180000	0.19960	0.650000	0.86243	GAG		0.413	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		3	51	1	0	1	1	1	3	51					A	14805023	C	A	14805023	3	1	478	1	0	0	0	0	1	0	0	0	6044	912	32	5	3263	5	FREM1	9	14805023	Missense_Mutation	SNP	C	TCGA-ZG-A8QZ-01A-11D-A377-08		14805023	126408408	21	32058											
CTNNAL1	8727	broad.mit.edu	37	chr9	111734982	111734982	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgctctttctgttcagaGagtttacaggcatattcagc	9	14	9	9	0	4	1	2	0	2	1	4	2	4	1	0	1	4	5	0	1	2	6			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr9:111734982G>C	ENST00000325551.4	-	9	1406	c.1320C>G	c.(1318-1320)ctC>ctG	p.L440L	CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000374595.4_Silent_p.L440L|CTNNAL1_ENST00000325580.6_Intron	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	440					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TCTGTTCAGAGAGTTTACAGG	0.338																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(1318-1320)ctC>ctG		catenin (cadherin-associated protein), alpha-like 1							117	119	118					9																	111734982		2203	4300	6503	SO:0001819	synonymous_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111734982G>C	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1320C>G	9.37:g.111734982G>C						CTNNAL1_ENST00000325580.6_Intron|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325551.4_Silent_p.L440L	p.L440L			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	9	1399	-			440					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Silent	SNP	ENST00000325551.4	37	c.1320C>G	CCDS6775.1																																																																																				0.338	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		3	64	0	0	0	1	0	3	64					C	111734982	G	C	111734982	2	2	478	1	0	0	0	0	0	0	0	1	4015	929	33	5		5	CTNNAL1	9	111734982	Silent	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08	96929959	111734982	29478449	22	32059											
GSTO1	9446	broad.mit.edu	37	chr10	106014945	106014945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcccccggggccggtccCggagggctcgatccgcatct	3	5	15	18	7	1	0	0	0	1	0	4	2	3	1	5	5	0	2	5	5	0	0			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr10:106014945C>G	ENST00000369713.5	+	2	253	c.59C>G	c.(58-60)cCg>cGg	p.P20R	GSTO1_ENST00000369710.4_Missense_Mutation_p.P20R|GSTO1_ENST00000539281.1_5'UTR|GSTO1_ENST00000493946.1_3'UTR	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	20					cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014810)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)|Vitamin E(DB00163)	GGGCCGGTCCCGGAGGGCTCG	0.687																																						ENST00000369713.5																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(58-60)cCg>cGg		glutathione S-transferase omega 1	Glutathione(DB00143)						30	35	33					10																	106014945		2203	4300	6503	SO:0001583	missense	9446				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity	g.chr10:106014945C>G	AF212303	CCDS7555.1, CCDS53572.1, CCDS53573.1	10q25.1	2012-06-21			ENSG00000148834	ENSG00000148834	2.5.1.18, 1.8.5.1, 1.20.4.2	"Glutathione S-transferases / Soluble"	13312	protein-coding gene	gene with protein product		605482				10783391, 12618591	Standard	NM_004832		Approved	GSTTLp28, P28	uc001kya.3	P78417	OTTHUMG00000019001	ENST00000369713.5:c.59C>G	10.37:g.106014945C>G	ENSP00000358727:p.Pro20Arg					GSTO1_ENST00000369710.4_Missense_Mutation_p.P20R|GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000539281.1_5'UTR	p.P20R	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	2	253	+		Colorectal(252;0.102)|Breast(234;0.122)	20					D3DRA3|F5H7H0|Q5TA03|Q7Z3T2	Missense_Mutation	SNP	ENST00000369713.5	37	c.59C>G	CCDS7555.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973528	0.92919	.	.	ENSG00000148834	ENST00000369710;ENST00000369713	T;T	0.09723	2.95;3.5	4.85	4.85	0.62838	Thioredoxin-like fold (2);	0.193414	0.56097	D	0.000026	T	0.38295	0.1035	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.25847	-1.0120	10	0.42905	T	0.14	-5.2496	18.1543	0.89686	0.0:1.0:0.0:0.0	.	20	P78417	GSTO1_HUMAN	R	20	ENSP00000358724:P20R;ENSP00000358727:P20R	ENSP00000358724:P20R	P	+	2	0	GSTO1	106004935	0.983000	0.35010	0.997000	0.53966	0.803000	0.45373	4.283000	0.58977	2.515000	0.84797	0.491000	0.48974	CCG		0.687	GSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050193.1	NM_004832		5	31	0	0	0	1	0	5	31					G	106014945	C	G	106014945	3	3	478	1	0	0	0	0	1	0	0	0	6842	652	23	5	65	5	GSTO1	10	106014945	Missense_Mutation	SNP	C	TCGA-ZG-A8QZ-01A-11D-A377-08		106014945	29519802	23	32060											
PTPRB	5787	broad.mit.edu	37	chr12	70932775	70932775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatgtcacatgactggtttCggcccacgtcttttaactcc	8	13	7	13	2	2	1	1	1	1	0	4	1	3	1	2	2	1	1	2	2	2	3	rs371535586		TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr12:70932775C>T	ENST00000261266.5	-	25	5173	c.5144G>A	c.(5143-5145)cGa>cAa	p.R1715Q	RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1625Q|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1845Q|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1625Q|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1625Q|PTPRB_ENST00000334414.6_Missense_Mutation_p.R1933Q|RP11-588H23.3_ENST00000547656.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1715	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			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)			TGACTGGTTTCGGCCCACGTC	0.358																																						ENST00000334414.6																			0				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						c.(5797-5799)cGa>cAa		protein tyrosine phosphatase, receptor type, B		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3716		0,0,1858	67	66	67		5798,4874,4874,5144	5.8	1	12		67	2,8190		0,2,4094	no	missense,missense,missense,missense	PTPRB	NM_001109754.2,NM_001206971.1,NM_001206972.1,NM_002837.4	43,43,43,43	0,2,5952	TT,TC,CC		0.0244,0.0,0.0168	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1933/2216,1625/1908,1625/1908,1715/1998	70932775	2,11906	1858	4096	5954	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70932775C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5144G>A	12.37:g.70932775C>T	ENSP00000261266:p.Arg1715Gln					PTPRB_ENST00000550857.1_Missense_Mutation_p.R1625Q|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1625Q|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1845Q|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1715Q|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1625Q	p.R1933Q	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		27	5842	-	Renal(347;0.236)		1715			Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.5798G>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615329	0.87359	0.0	2.44E-4	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79	5.85	5.85	0.93711	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	N	0.26162	0.8	0.58432	D	0.999991	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.982;0.982;0.992;0.961;0.962	T	0.02358	-1.1171	10	0.24483	T	0.36	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	1625;1625;1933;1715;1845	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	Q	1933;1625;1845;1625;1625;1715	ENSP00000334928:R1933Q;ENSP00000393028:R1625Q;ENSP00000448058:R1845Q;ENSP00000438927:R1625Q;ENSP00000447302:R1625Q;ENSP00000261266:R1715Q	ENSP00000261266:R1715Q	R	-	2	0	PTPRB	69219042	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	5.706000	0.68362	2.767000	0.95098	0.563000	0.77884	CGA		0.358	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			4	18	0	0	0	1	0	4	18					T	70932775	C	T	70932775	3	4	478	1	0	0	0	0	1	0	0	0	12796	884	31	2	881	2	PTPRB	12	70932775	Missense_Mutation	SNP	C	TCGA-ZG-A8QZ-01A-11D-A377-08		70932775	62919120	24	32061											
FREM2	341640	broad.mit.edu	37	chr13	39438593	39438593	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataattggagagacatatccTtaccagtacagcttgtccat	13	12	7	9	0	0	1	0	0	0	1	2	3	2	2	3	1	3	2	3	1	4	6			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr13:39438593T>G	ENST00000280481.7	+	16	8049	c.7833T>G	c.(7831-7833)ccT>ccG	p.P2611P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2611					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGACATATCCTTACCAGTACA	0.438																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(7831-7833)ccT>ccG		FRAS1 related extracellular matrix protein 2							169	157	162					13																	39438593		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39438593T>G	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7833T>G	13.37:g.39438593T>G							p.P2611P	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		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)	16	8049	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2611					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.7833T>G	CCDS31960.1																																																																																				0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		19	78	0	0	0	1	0	19	78					G	39438593	T	G	39438593	2	3	478	1	0	0	0	0	0	0	0	1	6045	1596	56	5		5	FREM2	13	39438593	Silent	SNP	T	TCGA-ZG-A8QZ-01A-11D-A377-08		39438593	75731285	25	32062											
SIAH3	283514	broad.mit.edu	37	chr13	46358044	46358044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggttggcgtgcagccccGcctcctggtggtgaaggtgg	3	8	18	12	3	0	1	0	1	0	0	1	1	1	1	5	6	2	2	5	6	1	1			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr13:46358044G>A	ENST00000400405.2	-	2	390	c.284C>T	c.(283-285)gCg>gTg	p.A95V		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	95	His-rich.				multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						GTGCAGCCCCGCCTCCtggtg	0.692																																						ENST00000400405.2																			0				large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						c.(283-285)gCg>gTg		siah E3 ubiquitin protein ligase family member 3							39	44	42					13																	46358044		2147	4224	6371	SO:0001583	missense	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46358044G>A		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"seven in absentia homolog 3 (Drosophila)"			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.284C>T	13.37:g.46358044G>A	ENSP00000383256:p.Ala95Val						p.A95V	NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN			2	390	-			95			His-rich.		B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	c.284C>T	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	G	7.764	0.705947	0.15172	.	.	ENSG00000215475	ENST00000400405	T	0.27557	1.66	5.18	3.44	0.39384	Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	1.108720	0.06997	U	0.822655	T	0.18882	0.0453	N	0.08118	0	0.09310	N	0.99999	B	0.13145	0.007	B	0.11329	0.006	T	0.34750	-0.9816	10	0.21540	T	0.41	-3.0085	12.1682	0.54141	0.1535:0.0:0.8465:0.0	.	95	Q8IW03	SIAH3_HUMAN	V	95	ENSP00000383256:A95V	ENSP00000383256:A95V	A	-	2	0	SIAH3	45256045	0.002000	0.14202	0.667000	0.29798	0.145000	0.21501	0.202000	0.17295	0.218000	0.20820	-1.134000	0.01955	GCG		0.692	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		7	13	0	0	0	1	0	7	13					A	46358044	G	A	46358044	3	1	478	1	0	0	0	0	1	0	0	0	14301	1087	38	1	529	1	SIAH3	13	46358044	Missense_Mutation	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08	6919451	46358044	68811834	26	32063											
PCNX	22990	broad.mit.edu	37	chr14	71540394	71540394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcatttagccagcgatggcTagcttgggaagtgatagtca	10	11	13	7	1	1	1	1	1	0	0	1	3	1	2	1	2	4	3	1	2	4	5			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr14:71540394T>C	ENST00000304743.2	+	27	5431	c.4985T>C	c.(4984-4986)cTa>cCa	p.L1662P	PCNX_ENST00000439984.3_Missense_Mutation_p.L1551P|PCNX_ENST00000238570.5_Missense_Mutation_p.L1590P	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1662						integral component of membrane (GO:0016021)				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)		CAGCGATGGCTAGCTTGGGAA	0.418																																						ENST00000304743.2																			0				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						c.(4984-4986)cTa>cCa		pecanex homolog (Drosophila)							239	211	221					14																	71540394		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71540394T>C	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4985T>C	14.37:g.71540394T>C	ENSP00000304192:p.Leu1662Pro					PCNX_ENST00000238570.5_Missense_Mutation_p.L1590P|PCNX_ENST00000439984.3_Missense_Mutation_p.L1551P	p.L1662P	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	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)	27	5431	+			1662					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.4985T>C	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.3|22.3	4.272555|4.272555	0.80580|0.80580	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.13307|.	2.98;3.02;2.6|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78597|.	0.4308|.	M|M	0.85945|0.85945	2.785|2.785	0.50813|0.50813	D|D	0.999897|0.999897	D;D;D|.	0.89917|.	0.997;0.999;1.0|.	P;D;D|.	0.83275|.	0.894;0.979;0.996|.	T|.	0.81568|.	-0.0873|.	10|.	0.87932|.	D|.	0|.	.|.	15.1225|15.1225	0.72457|0.72457	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1590;1551;1662|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	P|Q	1662;1590;1551|649	ENSP00000304192:L1662P;ENSP00000238570:L1590P;ENSP00000396617:L1551P|.	ENSP00000238570:L1590P|.	L|X	+|+	2|1	0|0	PCNX|PCNX	70610147|70610147	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.972000|0.972000	0.66771|0.66771	7.482000|7.482000	0.81143|0.81143	2.221000|2.221000	0.72209|0.72209	0.528000|0.528000	0.53228|0.53228	CTA|TAG		0.418	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		22	84	0	0	0	1	0	22	84					C	71540394	T	C	71540394	3	2	478	1	0	0	0	0	1	0	0	0	11591	1522	53	4	5091	4	PCNX	14	71540394	Missense_Mutation	SNP	T	TCGA-ZG-A8QZ-01A-11D-A377-08		71540394	35809146	27	32064											
DCAF4	26094	broad.mit.edu	37	chr14	73418524	73418524	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctatgcctcatgggactCgcagagactccaggctgtgc	8	8	13	12	1	1	1	1	0	0	1	3	3	2	2	2	3	2	3	2	3	1	1			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr14:73418524C>T	ENST00000358377.2	+	9	967	c.747C>T	c.(745-747)ctC>ctT	p.L249L	DCAF4_ENST00000555042.1_Silent_p.L249L|DCAF4_ENST00000394234.2_Silent_p.L149L|DCAF4_ENST00000553457.1_Silent_p.L149L|DCAF4_ENST00000509153.1_Silent_p.L188L|DCAF4_ENST00000353777.3_Intron	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	249					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TCATGGGACTCGCAGAGACTC	0.517																																						ENST00000553457.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						c.(445-447)ctC>ctT		DDB1 and CUL4 associated factor 4							201	180	188					14																	73418524		2203	4300	6503	SO:0001819	synonymous_variant	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73418524C>T	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20229	protein-coding gene	gene with protein product			"WD repeat domain 21", "WD repeat domain 21A"	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.747C>T	14.37:g.73418524C>T						DCAF4_ENST00000509153.1_Silent_p.L188L|DCAF4_ENST00000394234.2_Silent_p.L149L|DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000555042.1_Silent_p.L249L|DCAF4_ENST00000358377.2_Silent_p.L249L	p.L149L			Q8WV16	DCAF4_HUMAN			8	737	+			249					B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Silent	SNP	ENST00000358377.2	37	c.447C>T	CCDS9809.1																																																																																				0.517	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		6	118	0	0	0	1	0	6	118					T	73418524	C	T	73418524	2	4	478	1	0	0	0	0	0	0	0	1	4270	871	31	2		2	DCAF4	14	73418524	Silent	SNP	C	TCGA-ZG-A8QZ-01A-11D-A377-08	1878130	73418524	33931016	28	32065											
RFWD3	55159	broad.mit.edu	37	chr16	74670338	74670338	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggcagtttcctgcctgagaTactgtgaaggtcttttggaa	8	13	12	8	1	1	2	0	2	1	1	2	4	2	3	2	3	2	2	2	3	3	4			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr16:74670338T>C	ENST00000361070.4	-	8	1429	c.1332A>G	c.(1330-1332)gtA>gtG	p.V444V	RFWD3_ENST00000571750.1_Silent_p.V444V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	444					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTGCCTGAGATACTGTGAAGG	0.547																																						ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(1330-1332)gtA>gtG		ring finger and WD repeat domain 3							128	118	121					16																	74670338		2198	4300	6498	SO:0001819	synonymous_variant	55159				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	g.chr16:74670338T>C	AK001382	CCDS32486.1	16q22.3	2013-01-09						"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1332A>G	16.37:g.74670338T>C						RFWD3_ENST00000571750.1_Silent_p.V444V	p.V444V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN			8	1429	-			444					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Silent	SNP	ENST00000361070.4	37	c.1332A>G	CCDS32486.1																																																																																				0.547	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		7	43	0	0	0	1	0	7	43					C	74670338	T	C	74670338	2	2	478	1	0	0	0	0	0	0	0	1	13261	1393	49	4		4	RFWD3	16	74670338	Silent	SNP	T	TCGA-ZG-A8QZ-01A-11D-A377-08		74670338	15684415	29	32066											
PKN1	5585	broad.mit.edu	37	chr19	14580269	14580269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcttcgtgatggagtactCggccggtggggacctgatgc	5	10	17	9	3	0	2	0	2	0	0	2	4	0	4	2	5	3	2	2	5	1	2			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr19:14580269C>T	ENST00000242783.6	+	16	2258	c.2093C>T	c.(2092-2094)tCg>tTg	p.S698L	PKN1_ENST00000342216.4_Missense_Mutation_p.S704L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	698	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						ATGGAGTACTCGGCCGGTGGG	0.642																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2092-2094)tCg>tTg		protein kinase N1							98	111	106					19																	14580269		2130	4235	6365	SO:0001583	missense	5585				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	g.chr19:14580269C>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2093C>T	19.37:g.14580269C>T	ENSP00000242783:p.Ser698Leu					PKN1_ENST00000342216.4_Missense_Mutation_p.S704L	p.S698L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			16	2258	+			698			Protein kinase.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.2093C>T	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945344	0.53079	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.21191	2.02;2.02	4.07	4.07	0.47477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.175734	0.37095	U	0.002242	T	0.05135	0.0137	N	0.00859	-1.14	0.32254	N	0.571065	B;P	0.35328	0.44;0.495	B;B	0.23018	0.026;0.043	T	0.03423	-1.1038	10	0.49607	T	0.09	-15.9414	7.8581	0.29493	0.0:0.8862:0.0:0.1138	.	704;698	Q16512-2;Q16512	.;PKN1_HUMAN	L	698;704	ENSP00000242783:S698L;ENSP00000343325:S704L	ENSP00000242783:S698L	S	+	2	0	PKN1	14441269	0.994000	0.37717	0.926000	0.36857	0.948000	0.59901	5.426000	0.66476	2.256000	0.74724	0.491000	0.48974	TCG		0.642	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		5	65	0	0	0	1	0	5	65					T	14580269	C	T	14580269	3	4	478	1	0	0	0	0	1	0	0	0	11979	893	31	2	2198	2	PKN1	19	14580269	Missense_Mutation	SNP	C	TCGA-ZG-A8QZ-01A-11D-A377-08		14580269	44548714	30	32067											
NOVA2	4858	broad.mit.edu	37	chr19	46443952	46443952	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggccacggggcctgccacGttggcgtagctgatgttgag	5	10	16	10	3	0	2	0	2	0	0	0	2	0	2	3	4	2	4	3	4	1	4			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr19:46443952G>A	ENST00000263257.5	-	4	842	c.648C>T	c.(646-648)aaC>aaT	p.N216N		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	216					regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGCCTGCCACGTTGGCGTAGC	0.706																																						ENST00000263257.5																			0				endometrium(3)|large_intestine(5)|lung(13)	21						c.(646-648)aaC>aaT		neuro-oncological ventral antigen 2							55	30	38					19																	46443952		2163	4235	6398	SO:0001819	synonymous_variant	4858					nucleus	RNA binding	g.chr19:46443952G>A	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"neuro-oncological ventral antigen 3"	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.648C>T	19.37:g.46443952G>A							p.N216N	NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	4	842	-		all_neural(266;0.113)|Ovarian(192;0.127)	216					O43267|Q9UEA1	Silent	SNP	ENST00000263257.5	37	c.648C>T	CCDS12679.1																																																																																				0.706	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		4	22	0	0	0	1	0	4	22					A	46443952	G	A	46443952	2	1	478	1	0	0	0	0	0	0	0	1	10555	1136	40	1		1	NOVA2	19	46443952	Silent	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08	31863683	46443952	12685031	31	32068											
ZNF628	89887	broad.mit.edu	37	chr19	55994928	55994928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcagggagcggccagcGctggggccagcgggacaggg	6	2	23	10	3	0	0	0	0	0	0	0	2	0	2	2	7	4	2	2	7	0	0			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr19:55994928G>T	ENST00000598519.1	+	3	2921	c.2368G>T	c.(2368-2370)Gct>Tct	p.A790S	NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000591590.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.A786S			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	790	Gly-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AGCGGCCAGCGCTGGGGCCAG	0.716																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(2356-2358)Gct>Tct		zinc finger protein 628							15	20	18					19																	55994928		2167	4246	6413	SO:0001583	missense	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55994928G>T	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2368G>T	19.37:g.55994928G>T	ENSP00000469591:p.Ala790Ser					ZNF628_ENST00000598519.1_Missense_Mutation_p.A790S	p.A786S			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	2921	+	Breast(117;0.155)		786			Gly-rich.		Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	c.2356G>T	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	9.193	1.026474	0.19512	.	.	ENSG00000197483	ENST00000391718	T	0.07800	3.16	3.71	-2.5	0.06384	.	0.830051	0.09798	U	0.754437	T	0.04724	0.0128	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.40421	-0.9564	10	0.51188	T	0.08	-0.1487	4.5917	0.12310	0.414:0.1898:0.3962:0.0	.	786	Q5EBL2	ZN628_HUMAN	S	786	ENSP00000375598:A786S	ENSP00000375598:A786S	A	+	1	0	ZNF628	60686740	0.000000	0.05858	0.000000	0.03702	0.193000	0.23685	-0.713000	0.05007	-0.194000	0.10399	-0.448000	0.05591	GCT		0.716	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		7	23	1	0	0.00448238	1	0.00515474	7	23					T	55994928	G	T	55994928	3	4	478	1	0	0	0	0	1	0	0	0	18049	1087	38	5	2358	5	ZNF628	19	55994928	Missense_Mutation	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08	9550976	55994928	3134055	32	32069											
NLRP4	147945	broad.mit.edu	37	chr19	56369355	56369355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgagggagttgccgccaaCgagtttggctgacttgattt	8	12	13	8	2	0	3	0	3	0	0	0	5	0	4	2	2	2	3	2	2	1	4	rs370421219	byFrequency	TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr19:56369355C>T	ENST00000301295.6	+	3	1018	c.596C>T	c.(595-597)aCg>aTg	p.T199M	NLRP4_ENST00000346986.5_Missense_Mutation_p.T199M|NLRP4_ENST00000587891.1_Missense_Mutation_p.T124M	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	199	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.T199M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTGCCGCCAACGAGTTTGGCT	0.517													C|||	2	0.000399361	0	0.0014	5008	,	,		19917	0		0	False		,,,				2504	0.001					ENST00000301295.6																			1	Substitution - Missense(1)	p.T199M(1)	upper_aerodigestive_tract(1)	breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(595-597)aCg>aTg		NLR family, pyrin domain containing 4		C	MET/THR	2,4404	4.2+/-10.8	0,2,2201	101	101	101		596	-0.4	0	19		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP4	NM_134444.4	81	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	199/995	56369355	3,13003	2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369355C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.596C>T	19.37:g.56369355C>T	ENSP00000301295:p.Thr199Met					NLRP4_ENST00000346986.5_Missense_Mutation_p.T199M|NLRP4_ENST00000587891.1_Missense_Mutation_p.T124M	p.T199M	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1018	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	199			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.596C>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	8.234	0.805414	0.16467	4.54E-4	1.16E-4	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.78707	-1.2;-1.2	4.11	-0.4	0.12411	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.60586	0.2280	L	0.33485	1.01	0.09310	N	1	B;B;B	0.32128	0.063;0.051;0.357	B;B;B	0.24394	0.025;0.024;0.053	T	0.45249	-0.9274	9	0.33940	T	0.23	.	6.757	0.23520	0.0:0.4886:0.0:0.5114	.	199;124;199	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	M	199	ENSP00000301295:T199M;ENSP00000344787:T199M	ENSP00000301295:T199M	T	+	2	0	NLRP4	61061167	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.970000	0.03810	0.152000	0.19188	-1.020000	0.02445	ACG		0.517	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		11	53	0	0	0	1	0	11	53					T	56369355	C	T	56369355	3	4	478	1	0	0	0	0	1	0	0	0	10479	536	19	1	602	1	NLRP4	19	56369355	Missense_Mutation	SNP	C	TCGA-ZG-A8QZ-01A-11D-A377-08	374427	56369355	2759628	33	32070											
PDYN	5173	broad.mit.edu	37	chr20	1961195	1961195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcctcttggggtatttgCgcaaaaagcccccatagcgt	9	10	10	12	2	1	0	0	0	1	0	2	0	2	0	3	2	4	3	3	2	4	4	rs377075531		TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr20:1961195C>T	ENST00000217305.2	-	4	764	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PDYN_ENST00000540134.1_Missense_Mutation_p.R180H|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R180H	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	180					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGGTATTTGCGCAAAAAGCC	0.602																																						ENST00000217305.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(538-540)cGc>cAc		prodynorphin							99	103	102					20																	1961195		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961195C>T		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"Endogenous ligands"	8820	protein-coding gene	gene with protein product	"preproenkephalin B", "rimorphin", "beta-neoendorphin", "dynorphin", "leu-enkephalin", "leumorphin", "neoendorphin-dynorphin-enkephalin prepropeptide"	131340	"spinocerebellar ataxia 23"	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.539G>A	20.37:g.1961195C>T	ENSP00000217305:p.Arg180His					PDYN_ENST00000539905.1_Missense_Mutation_p.R180H|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.R180H	p.R180H	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN			4	764	-			180					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.539G>A	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772531	0.90108	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.86769	-2.17;-2.17;-2.17	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.94162	0.8127	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95090	0.8221	10	0.87932	D	0	-18.2484	15.1657	0.72821	0.0:1.0:0.0:0.0	.	180	P01213	PDYN_HUMAN	H	180	ENSP00000440185:R180H;ENSP00000442259:R180H;ENSP00000217305:R180H	ENSP00000217305:R180H	R	-	2	0	PDYN	1909195	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.652000	0.61454	2.445000	0.82738	0.313000	0.20887	CGC		0.602	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			8	56	0	0	0	1	0	8	56					T	1961195	C	T	1961195	3	4	478	1	0	0	0	0	1	0	0	0	11699	768	27	1	229	1	PDYN	20	1961195	Missense_Mutation	SNP	C	TCGA-ZG-A8QZ-01A-11D-A377-08		1961195	61064325	34	32071											
C20orf106	200232	broad.mit.edu	37	chr20	55099933	55099933	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctatgcctttatgttctcTtctctgagacagaaaactag	11	14	7	9	0	2	2	0	1	2	2	4	3	2	2	1	0	3	2	1	0	5	6			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr20:55099933T>G	ENST00000371328.3	+	1	392	c.69T>G	c.(67-69)tcT>tcG	p.S23S	GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_Intron	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	23						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TTATGTTCTCTTCTCTGAGAC	0.537																																						ENST00000371328.3																			0											c.(67-69)tcT>tcG		family with sequence similarity 209, member A							98	93	95					20																	55099933		2203	4300	6503	SO:0001819	synonymous_variant	200232							g.chr20:55099933T>G	AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 106"	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.69T>G	20.37:g.55099933T>G						GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_Intron	p.S23S	NM_001012971.3	NP_001012989.2					1	392	+								Q05C43	Silent	SNP	ENST00000371328.3	37	c.69T>G	CCDS33493.1																																																																																				0.537	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			15	63	0	0	0	1	0	15	63					G	55099933	T	G	55099933	2	3	478	1	0	0	0	0	0	0	0	1	2076	1596	56	5		5	C20orf106	20	55099933	Silent	SNP	T	TCGA-ZG-A8QZ-01A-11D-A377-08	53138738	55099933	7925587	35	32072											
SUN2	25777	broad.mit.edu	37	chr22	39147338	39147338	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgggcccagctgtggcgctgGggacaggcgcttcatgttgc	4	8	17	12	3	1	0	1	0	0	0	1	1	1	1	1	5	2	4	1	5	0	2			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr22:39147338G>C	ENST00000405510.1	-	4	521	c.163C>G	c.(163-165)Cca>Gca	p.P55A	SUN2_ENST00000405018.1_Missense_Mutation_p.P55A|SUN2_ENST00000406622.1_Missense_Mutation_p.P55A|SUN2_ENST00000411587.2_Missense_Mutation_p.P90A|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000216064.4_Missense_Mutation_p.P55A	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	55	LMNA-binding. {ECO:0000250}.|Ser-rich.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						TGTGGCGCTGGGGACAGGCGC	0.617																																						ENST00000405510.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						c.(163-165)Cca>Gca		Sad1 and UNC84 domain containing 2							90	97	95					22																	39147338		2203	4300	6503	SO:0001583	missense	25777				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	g.chr22:39147338G>C	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"unc-84 homolog B (C. elegans)"	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.163C>G	22.37:g.39147338G>C	ENSP00000385740:p.Pro55Ala					SUN2_ENST00000216064.4_Missense_Mutation_p.P55A|SUN2_ENST00000411587.2_Missense_Mutation_p.P90A|SUN2_ENST00000406622.1_Missense_Mutation_p.P55A|SUN2_ENST00000405018.1_Missense_Mutation_p.P55A	p.P55A	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN			4	521	-			55			LMNA-binding (By similarity).|Ser-rich.		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	ENST00000405510.1	37	c.163C>G	CCDS13978.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621929	0.66787	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000438058;ENST00000456894;ENST00000420859;ENST00000452294;ENST00000433561;ENST00000417332;ENST00000439339	T;T;T;T;T;T;T;T;T;T;T;T	0.65916	2.48;2.48;1.44;2.48;1.99;1.03;0.13;0.09;0.26;0.33;-0.18;0.36	5.36	5.36	0.76844	.	0.078950	0.51477	D	0.000091	T	0.68860	0.3047	L	0.29908	0.895	0.38104	D	0.937362	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.83275	0.996;0.994;0.994;0.994;0.994	T	0.66304	-0.5957	10	0.21540	T	0.41	-12.6022	17.2724	0.87106	0.0:0.0:1.0:0.0	.	90;90;55;55;55	B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.;.;.;.;SUN2_HUMAN	A	55;55;55;55;90;55;55;55;55;55;55;55	ENSP00000385740:P55A;ENSP00000216064:P55A;ENSP00000385616:P55A;ENSP00000383992:P55A;ENSP00000395601:P90A;ENSP00000406941:P55A;ENSP00000415588:P55A;ENSP00000408834:P55A;ENSP00000414950:P55A;ENSP00000411615:P55A;ENSP00000412928:P55A;ENSP00000393271:P55A	ENSP00000216064:P55A	P	-	1	0	SUN2	37477284	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	5.752000	0.68728	2.498000	0.84270	0.655000	0.94253	CCA		0.617	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		12	34	0	0	0	1	0	12	34					C	39147338	G	C	39147338	3	2	478	1	0	0	0	0	1	0	0	0	15389	1232	43	5	2054	5	SUN2	22	39147338	Missense_Mutation	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08		39147338	12157228	36	32073											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-																															ctggttgggtttgcacttcaTcctcgaggcagcctcctcga																								rs78182391		TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			3	5						3	5	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	478	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-ZG-A8QZ-01A-11D-A377-08		51239296	104031264	37	32074											
HUWE1	10075	broad.mit.edu	37	chrX	53576284	53576284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagatggagagcagactgCggatgacccagtggcgggtc	10	5	17	9	2	0	4	0	1	0	3	1	6	0	5	1	4	2	2	1	4	1	0			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chrX:53576284C>A	ENST00000342160.3	-	66	10128	c.9671G>T	c.(9670-9672)cGc>cTc	p.R3224L	HUWE1_ENST00000262854.6_Missense_Mutation_p.R3224L|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3224					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			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						GAGCAGACTGCGGATGACCCA	0.507																																						ENST00000342160.3																			0				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						c.(9670-9672)cGc>cTc		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							98	91	93					X																	53576284		2203	4300	6503	SO:0001583	missense	10075				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	g.chrX:53576284C>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9671G>T	X.37:g.53576284C>A	ENSP00000340648:p.Arg3224Leu					HUWE1_ENST00000262854.6_Missense_Mutation_p.R3224L	p.R3224L			Q7Z6Z7	HUWE1_HUMAN			66	10128	-			3224					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.9671G>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249995	0.59212	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.39229	1.09;1.09	5.78	5.78	0.91487	.	0.060183	0.64402	D	0.000002	T	0.59905	0.2228	L	0.50333	1.59	0.80722	D	1	D;D	0.63046	0.987;0.992	D;D	0.72982	0.953;0.979	T	0.57004	-0.7885	10	0.44086	T	0.13	.	17.67	0.88214	0.0:1.0:0.0:0.0	.	3224;3208	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	L	3224	ENSP00000340648:R3224L;ENSP00000262854:R3224L	ENSP00000262854:R3224L	R	-	2	0	HUWE1	53593009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.905000	0.75714	2.445000	0.82738	0.600000	0.82982	CGC		0.507	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		3	47	1	0	1	1	1	3	47					A	53576284	C	A	53576284	3	1	478	1	0	0	0	0	1	0	0	0	7461	768	27	5	3525	5	HUWE1	23	53576284	Missense_Mutation	SNP	C	TCGA-ZG-A8QZ-01A-11D-A377-08	2336988	53576284	101694276	38	32075											
NBPF1	55672	broad.mit.edu	37	chr1	16893709	16893709	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagccaacacgctgttgcTccaatatgtaaaaggcactt	12	9	7	13	1	0	0	0	0	0	0	1	0	1	0	3	1	3	5	3	1	5	4			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:16893709T>C	ENST00000430580.2	-	25	3691	c.2804A>G	c.(2803-2805)gAg>gGg	p.E935G	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	935	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									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)		ACGCTGTTGCTCCAATATGTA	0.458																																						ENST00000430580.2																			0											c.(2803-2805)gAg>gGg		neuroblastoma breakpoint family, member 1							1122	943	1004					1																	16893709		2203	4300	6503	SO:0001583	missense	55672					cytoplasm		g.chr1:16893709T>C	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2804A>G	1.37:g.16893709T>C	ENSP00000474456:p.Glu935Gly					NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	p.E935G	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		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)	25	3691	-			935			NBPF 5.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2804A>G																																																																																					0.458	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		28	2448	0	0	0	1	0	28	2448					C	16893709	T	C	16893709	3	2	479	1	0	0	0	0	1	0	0	0	10192	1551	54	4	640	4	NBPF1	1	16893709	Missense_Mutation	SNP	T	TCGA-ZG-A9KY-01A-11D-A41K-08		16893709	232356912	1	32076											
UBR4	23352	broad.mit.edu	37	chr1	19468211	19468211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacggatgtgaccaccattcGggatccctgatgactgcatt	9	10	11	11	2	0	3	0	3	0	0	2	6	1	5	3	2	1	1	3	2	0	2			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:19468211G>A	ENST00000375254.3	-	56	8267	c.8240C>T	c.(8239-8241)cCg>cTg	p.P2747L	UBR4_ENST00000375226.2_Missense_Mutation_p.P2758L|UBR4_ENST00000375267.2_Missense_Mutation_p.P2747L|UBR4_ENST00000375217.2_Missense_Mutation_p.P2775L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2747					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			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)		ACCACCATTCGGGATCCCTGA	0.512																																						ENST00000375267.2																			0				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						c.(8239-8241)cCg>cTg		ubiquitin protein ligase E3 component n-recognin 4							169	142	151					1																	19468211		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19468211G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8240C>T	1.37:g.19468211G>A	ENSP00000364403:p.Pro2747Leu					UBR4_ENST00000375254.3_Missense_Mutation_p.P2747L|UBR4_ENST00000375217.2_Missense_Mutation_p.P2775L|UBR4_ENST00000375226.2_Missense_Mutation_p.P2758L	p.P2747L			Q5T4S7	UBR4_HUMAN		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)	56	8243	-		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)	2747					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.8240C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431861	0.43122	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.23754	1.9;1.9;1.89;1.91	5.96	5.96	0.96718	.	0.118020	0.64402	D	0.000019	T	0.16085	0.0387	N	0.08118	0	0.80722	D	1	B	0.23806	0.091	B	0.14023	0.01	T	0.12451	-1.0547	10	0.20519	T	0.43	.	20.3959	0.98984	0.0:0.0:1.0:0.0	.	2747	Q5T4S7	UBR4_HUMAN	L	2747;2747;2775;2758;390;1468	ENSP00000364403:P2747L;ENSP00000364416:P2747L;ENSP00000364365:P2775L;ENSP00000364374:P2758L	ENSP00000364365:P2775L	P	-	2	0	UBR4	19340798	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.496000	0.81526	2.828000	0.97474	0.579000	0.79373	CCG		0.512	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		16	55	0	0	0	1	0	16	55					A	19468211	G	A	19468211	3	1	479	1	0	0	0	0	1	0	0	0	16901	1116	39	2	7515	2	UBR4	1	19468211	Missense_Mutation	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	2574502	19468211	229782410	2	32077											
NBL1	4681	broad.mit.edu	37	chr1	19981506	19981506	+	5'UTR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacctgtgctccgttctaggGctctggaggccacgggcatg	5	9	14	13	2	2	0	0	0	2	0	3	1	3	1	3	4	1	4	3	4	1	2			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:19981506G>A	ENST00000375136.3	+	0	286				NBL1_ENST00000548815.1_5'UTR|NBL1_ENST00000289749.2_Splice_Site_p.A30T|MINOS1-NBL1_ENST00000602662.1_5'UTR	NM_001204085.1|NM_001204089.1|NM_001278164.1|NM_001278166.1	NP_001191014.1|NP_001191018.1|NP_001265093.1|NP_001265095.1	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist						determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of monocyte chemotaxis (GO:0090027)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)|positive regulation of neuron differentiation (GO:0045666)|sequestering of BMP from receptor via BMP binding (GO:0038098)|sequestering of BMP in extracellular matrix (GO:0035582)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		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)		CCGTTCTAGGGCTCTGGAGGC	0.632																																						ENST00000289749.2																			0				lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.e2-1		neuroblastoma 1, DAN family BMP antagonist							38	36	36					1																	19981506		2203	4300	6503	SO:0001623	5_prime_UTR_variant	4681					extracellular region		g.chr1:19981506G>A		CCDS196.1, CCDS41278.1, CCDS196.2, CCDS72720.1	1p36.3-p36.2	2013-02-26	2013-02-26		ENSG00000158747	ENSG00000158747			7650	protein-coding gene	gene with protein product	"neuroblastoma candidate region, suppression of tumorigenicity 1", "neuroblastoma suppressor of tumorigenicity 1", "differential screening-selected gene aberrant in neuroblastoma"	600613	"neuroblastoma, suppression of tumorigenicity 1"			7633401	Standard	NM_182744		Approved	D1S1733E, NB, DAN, NO3, DAND1	uc001bcj.2	P41271	OTTHUMG00000002700	ENST00000375136.3:c.-18G>A	1.37:g.19981506G>A						MINOS1-NBL1_ENST00000602662.1_5'UTR|NBL1_ENST00000375136.3_5'UTR|NBL1_ENST00000548815.1_5'UTR	p.A30_splice	NM_182744.3	NP_877421.2	P41271	NBL1_HUMAN		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)	2	168	+		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)	0					A3KFI7|Q5TGZ2|Q5U0N4|Q96L68	Splice_Site	SNP	ENST00000375136.3	37	c.86_splice	CCDS196.2	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586957	0.46110	.	.	ENSG00000158747	ENST00000289749;ENST00000439278	T;T	0.48201	1.52;0.82	4.15	1.25	0.21368	.	.	.	.	.	T	0.21347	0.0514	N	0.08118	0	0.28621	N	0.908174	B	0.06786	0.001	B	0.09377	0.004	T	0.21415	-1.0246	8	.	.	.	-15.2378	3.2167	0.06701	0.3078:0.0:0.5069:0.1853	.	30	P41271-2	.	T	30;29	ENSP00000289749:A30T;ENSP00000391858:A29T	.	A	+	1	0	NBL1	19854093	0.035000	0.19736	0.956000	0.39512	0.525000	0.34531	-0.030000	0.12308	0.160000	0.19432	0.462000	0.41574	GCT		0.632	NBL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007681.4	NM_005380		7	16	0	0	0	1	0	7	16					A	19981506	G	A	19981506	1	1	479	0	1	0	0	0	0	0	0	0	10190	1217	42	3		3	NBL1	1	19981506	5'UTR	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	513295	19981506	229269115	3	32078											
WASF2	10163	broad.mit.edu	37	chr1	27742572	27742573	+	Frame_Shift_Del	DEL	TT	TT	-																															tatgaagggtctgtgtagaaTttgagtgcctcttttccatc																								rs200627354		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:27742572_27742573delTT	ENST00000430629.2	-	5	658_659	c.443_444delAA	c.(442-444)aaafs	p.K148fs	WASF2_ENST00000536657.1_Frame_Shift_Del_p.K148fs	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	148					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		CTGTGTAGAATTTGAGTGCCTC	0.441																																						ENST00000430629.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(442-444)afs		WAS protein family, member 2																																				SO:0001589	frameshift_variant	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27742572_27742573delTT	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.443_444delAA	1.37:g.27742572_27742573delTT	ENSP00000396211:p.Lys148fs					WASF2_ENST00000536657.1_Frame_Shift_Del_p.K148fs	p.K148fs	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN		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)	5	658_659	-		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)	148					B4DZN0|O60794|Q9UDY7	Frame_Shift_Del	DEL	ENST00000430629.2	37	c.443_444delAA	CCDS304.1																																																																																				0.441	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		18	92						18	92	---	---	---	---	-	27742573	TT	-	27742572	7	5	479	1	0	1	0	1	0	0	0	0	17250	1490	52	0	1072	0	WASF2	1	27742572	Frame_Shift_Del	DEL	TT	TCGA-ZG-A9KY-01A-11D-A41K-08	7761066	27742572	221508049	4	32079											
GJB5	2709	broad.mit.edu	37	chr1	35223665	35223665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaacaagacgacctcctttCgggtgacctcatctttctgg	9	11	8	13	2	3	2	1	1	2	1	5	3	4	2	3	2	1	0	3	2	2	2	rs148092547		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:35223665C>T	ENST00000338513.1	+	2	907	c.734C>T	c.(733-735)tCg>tTg	p.S245L	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	245					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				GACCTCCTTTCGGGTGACCTC	0.567																																						ENST00000338513.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(733-735)tCg>tTg		gap junction protein, beta 5, 31.1kDa							127	109	115					1																	35223665		2203	4300	6503	SO:0001583	missense	2709				cell communication|epidermis development	connexon complex|integral to membrane		g.chr1:35223665C>T	BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"Ion channels / Gap junction proteins (connexins)"	4287	protein-coding gene	gene with protein product	"connexin 31.1"	604493	"gap junction protein, beta 5 (connexin 31.1)", "gap junction protein, beta 5"			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.734C>T	1.37:g.35223665C>T	ENSP00000340811:p.Ser245Leu						p.S245L	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN			2	907	+		Myeloproliferative disorder(586;0.0393)	245					Q9UPA3	Missense_Mutation	SNP	ENST00000338513.1	37	c.734C>T	CCDS382.1	.	.	.	.	.	.	.	.	.	.	C	9.289	1.050040	0.19827	.	.	ENSG00000189280	ENST00000338513	D	0.97906	-4.6	5.71	2.87	0.33458	.	2.176210	0.02036	N	0.048955	D	0.95063	0.8401	N	0.25426	0.745	0.24012	N	0.996171	B	0.02656	0.0	B	0.01281	0.0	D	0.86361	0.1717	10	0.38643	T	0.18	.	9.3155	0.37932	0.0:0.7727:0.0:0.2273	.	245	O95377	CXB5_HUMAN	L	245	ENSP00000340811:S245L	ENSP00000340811:S245L	S	+	2	0	GJB5	34996252	0.000000	0.05858	0.383000	0.26132	0.165000	0.22458	-0.300000	0.08243	0.357000	0.24183	-0.244000	0.11960	TCG		0.567	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	NM_005268		16	45	0	0	0	1	0	16	45					T	35223665	C	T	35223665	3	4	479	1	0	0	0	0	1	0	0	0	6411	893	31	2	736	2	GJB5	1	35223665	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	7481093	35223665	214026956	5	32080											
KIAA0467	23334	broad.mit.edu	37	chr1	43909116	43909116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctgcctggctgcatgggCccccagagacctctggaccc	6	6	12	17	0	1	1	0	0	1	1	1	3	1	2	5	3	3	3	5	3	0	0	rs146439294		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:43909116C>T	ENST00000562955.1	+	60	8422	c.8422C>T	c.(8422-8424)Ccc>Tcc	p.P2808S	SZT2_ENST00000372442.1_Missense_Mutation_p.P1966S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2865					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCTGCATGGGCCCCCAGAGAC	0.627																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(8422-8424)Ccc>Tcc		seizure threshold 2 homolog (mouse)		C	SER/PRO	1,4405	2.1+/-5.4	0,1,2202	39	41	40		8422	3.4	1	1	dbSNP_134	40	0,8600		0,0,4300	no	missense	SZT2	NM_015284.3	74	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2808/3376	43909116	1,13005	2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43909116C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8422C>T	1.37:g.43909116C>T	ENSP00000457168:p.Pro2808Ser					SZT2_ENST00000372442.1_Missense_Mutation_p.P1966S	p.P2808S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			60	8422	+			2865					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.8422C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874376	0.33069	2.27E-4	0.0	ENSG00000198198	ENST00000372442	.	.	.	5.4	3.42	0.39159	.	0.295627	0.35677	N	0.003046	T	0.07999	0.0200	N	0.00729	-1.24	0.22835	N	0.998677	B	0.19331	0.035	B	0.16289	0.015	T	0.28554	-1.0040	9	0.20519	T	0.43	.	7.1872	0.25806	0.1719:0.7356:0.0:0.0924	.	2808	Q5T011-5	.	S	1966	.	ENSP00000361519:P1966S	P	+	1	0	SZT2	43681703	0.003000	0.15002	1.000000	0.80357	0.940000	0.58332	-0.025000	0.12413	2.518000	0.84900	0.655000	0.94253	CCC		0.627	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		14	14	0	0	0	1	0	14	14					T	43909116	C	T	43909116	3	4	479	1	0	0	0	0	1	0	0	0	8178	739	26	3	6070	3	KIAA0467	1	43909116	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	8685451	43909116	205341505	6	32081											
UBQLN4	56893	broad.mit.edu	37	chr1	156013896	156013896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caccggacccgggggcctggGaggtggggggcgaggggctc	4	3	23	11	3	0	0	0	0	0	0	1	3	0	2	3	10	0	1	3	10	0	0			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:156013896G>A	ENST00000368309.3	-	6	1111	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	340					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGGGGCCTGGGAGGTGGGGGG	0.687																																						ENST00000368309.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16						c.(1018-1020)tCc>tTc		ubiquilin 4							8	10	10					1																	156013896		2079	4122	6201	SO:0001583	missense	56893					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	g.chr1:156013896G>A	BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"Ubiquilin family"	1237	protein-coding gene	gene with protein product	"ataxin-1 ubiquitin-like interacting protein"	605440	"chromosome 1 open reading frame 6"	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.1019C>T	1.37:g.156013896G>A	ENSP00000357292:p.Ser340Phe					UBQLN4_ENST00000368307.1_Intron	p.S340F	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN			6	1111	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		340					A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Missense_Mutation	SNP	ENST00000368309.3	37	c.1019C>T	CCDS1127.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915849	0.73098	.	.	ENSG00000160803	ENST00000368309	T	0.59502	0.26	5.24	5.24	0.73138	.	0.213799	0.49916	D	0.000123	T	0.69468	0.3114	M	0.73598	2.24	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.61201	0.885;0.76	T	0.72981	-0.4126	10	0.87932	D	0	-21.352	17.5815	0.87970	0.0:0.0:1.0:0.0	.	320;340	B4DZF6;Q9NRR5	.;UBQL4_HUMAN	F	340	ENSP00000357292:S340F	ENSP00000357292:S340F	S	-	2	0	UBQLN4	154280520	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.827000	0.62723	2.723000	0.93209	0.655000	0.94253	TCC		0.687	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131		8	15	0	0	0	1	0	8	15					A	156013896	G	A	156013896	3	1	479	1	0	0	0	0	1	0	0	0	16896	1174	41	3	810	3	UBQLN4	1	156013896	Missense_Mutation	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	112104780	156013896	93236725	7	32082											
SPTA1	6708	broad.mit.edu	37	chr1	158592846	158592846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccagcaactgttcccagCgcttcagcagagcggcataa	10	8	9	14	2	1	1	1	0	0	1	3	1	3	1	2	1	5	5	2	1	2	4	rs199993378		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:158592846C>T	ENST00000368147.4	-	43	6227	c.6047G>A	c.(6046-6048)cGc>cAc	p.R2016H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2016					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R2016H(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)					CTGTTCCCAGCGCTTCAGCAG	0.478																																						ENST00000368148.3																			1	Substitution - Missense(1)	p.R2016H(1)	lung(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						c.(6046-6048)cGc>cAc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		C	HIS/ARG	3,3867		0,3,1932	231	230	231		6047	-1.5	0.6	1		231	1,8273		0,1,4136	yes	missense	SPTA1	NM_003126.2	29	0,4,6068	TT,TC,CC		0.0121,0.0775,0.0329	benign	2016/2420	158592846	4,12140	1935	4137	6072	SO:0001583	missense	6708				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	g.chr1:158592846C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6047G>A	1.37:g.158592846C>T	ENSP00000357129:p.Arg2016His					SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.R2013H	p.R2016H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			43	6227	-	all_hematologic(112;0.0378)		2016					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6047G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.288856	0.23478	7.75E-4	1.21E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.40476	1.03;1.03	4.78	-1.49	0.08718	.	.	.	.	.	T	0.17619	0.0423	L	0.56340	1.77	0.38903	D	0.957367	P	0.47106	0.89	B	0.41723	0.365	T	0.10132	-1.0643	9	0.40728	T	0.16	.	5.6431	0.17575	0.1234:0.5367:0.0:0.3399	.	2016	P02549	SPTA1_HUMAN	H	2016;2013	ENSP00000357130:R2016H;ENSP00000357129:R2013H	ENSP00000357129:R2013H	R	-	2	0	SPTA1	156859470	0.999000	0.42202	0.633000	0.29310	0.020000	0.10135	0.741000	0.26202	-0.360000	0.08138	-0.136000	0.14681	CGC		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		82	186	0	0	0	1	0	82	186					T	158592846	C	T	158592846	3	4	479	1	0	0	0	0	1	0	0	0	15115	768	27	1	1252	1	SPTA1	1	158592846	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	2578950	158592846	90657775	8	32083											
CACNA1E	777	broad.mit.edu	37	chr1	181680189	181680189	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgaatggctaccgtgcCtggatagacaaagcaggtag	12	7	14	8	1	0	2	0	1	0	1	0	4	0	3	2	3	4	4	2	3	5	3			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:181680189C>T	ENST00000367573.2	+	8	1155	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	CACNA1E_ENST00000526775.1_Silent_p.A385A|CACNA1E_ENST00000367570.1_Silent_p.A385A|CACNA1E_ENST00000357570.5_Silent_p.A336A|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Silent_p.A385A|CACNA1E_ENST00000358338.5_Silent_p.A336A	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	385	Binding to the beta subunit. {ECO:0000250}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			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						GCTACCGTGCCTGGATAGACA	0.592																																						ENST00000526775.1																			0				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						c.(1153-1155)gcC>gcT		calcium channel, voltage-dependent, R type, alpha 1E subunit							54	59	57					1																	181680189		1991	4168	6159	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181680189C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1155C>T	1.37:g.181680189C>T						CACNA1E_ENST00000357570.5_Silent_p.A336A|CACNA1E_ENST00000358338.5_Silent_p.A336A|CACNA1E_ENST00000367570.1_Silent_p.A385A|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Silent_p.A385A|CACNA1E_ENST00000360108.3_Silent_p.A385A	p.A385A	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			8	1320	+			385			Binding to the beta subunit (By similarity).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.1155C>T	CCDS55664.1																																																																																				0.592	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		16	44	0	0	0	1	0	16	44					T	181680189	C	T	181680189	2	4	479	1	0	0	0	0	0	0	0	1	2542	668	24	3		3	CACNA1E	1	181680189	Silent	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	23087343	181680189	67570432	9	32084											
PRG4	10216	broad.mit.edu	37	chr1	186276272	186276272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacccaccaccaaggagcCtgcacccaccactcccaaag	12	3	6	20	0	0	0	0	0	0	0	1	1	1	1	7	1	3	2	7	1	2	0			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:186276272C>T	ENST00000445192.2	+	7	1466	c.1421C>T	c.(1420-1422)cCt>cTt	p.P474L	PRG4_ENST00000367485.4_Missense_Mutation_p.P381L|PRG4_ENST00000367483.4_Missense_Mutation_p.P433L|PRG4_ENST00000367486.3_Missense_Mutation_p.P431L|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	474	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCAAGGAGCCTGCACCCACC	0.647																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1420-1422)cCt>cTt		proteoglycan 4							85	91	89					1																	186276272		2203	4299	6502	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276272C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1421C>T	1.37:g.186276272C>T	ENSP00000399679:p.Pro474Leu					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.P431L|PRG4_ENST00000367485.4_Missense_Mutation_p.P381L|PRG4_ENST00000367483.4_Missense_Mutation_p.P433L	p.P474L	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1466	+			474			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1421C>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	c	7.681	0.689010	0.14973	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.07444	3.19;3.3;3.22;3.33	3.55	2.6	0.31112	.	0.894418	0.09172	U	0.838727	T	0.11495	0.0280	M	0.64404	1.975	0.24899	N	0.992112	B;B;B;B	0.21520	0.057;0.057;0.019;0.057	B;B;B;B	0.17098	0.017;0.017;0.007;0.017	T	0.29549	-1.0008	9	.	.	.	-0.5795	11.3052	0.49332	0.1842:0.8158:0.0:0.0	.	340;381;474;433	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	L	431;340;433;381;474	ENSP00000356456:P431L;ENSP00000356453:P433L;ENSP00000356455:P381L;ENSP00000399679:P474L	.	P	+	2	0	PRG4	184542895	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	1.255000	0.32909	0.581000	0.29539	0.186000	0.17326	CCT		0.647	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		14	46	0	0	0	1	0	14	46					T	186276272	C	T	186276272	3	4	479	1	0	0	0	0	1	0	0	0	12481	681	24	3	1443	3	PRG4	1	186276272	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	4596083	186276272	62974349	10	32085			1	50		2	2	25	C		6.279535e-05
PRG4	10216	broad.mit.edu	37	chr1	186276296	186276296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaccactcccaaagagcCtgcacccactgcccccaaga	12	3	5	21	0	0	2	0	0	0	2	1	2	1	2	7	0	3	1	7	0	2	0			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:186276296C>T	ENST00000445192.2	+	7	1490	c.1445C>T	c.(1444-1446)cCt>cTt	p.P482L	PRG4_ENST00000367485.4_Missense_Mutation_p.P389L|PRG4_ENST00000367483.4_Missense_Mutation_p.P441L|PRG4_ENST00000367486.3_Missense_Mutation_p.P439L|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	482	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCAAAGAGCCTGCACCCACT	0.647																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1444-1446)cCt>cTt		proteoglycan 4							94	100	98					1																	186276296		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276296C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1445C>T	1.37:g.186276296C>T	ENSP00000399679:p.Pro482Leu					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.P439L|PRG4_ENST00000367485.4_Missense_Mutation_p.P389L|PRG4_ENST00000367483.4_Missense_Mutation_p.P441L	p.P482L	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1490	+			482			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1445C>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	c	5.776	0.327581	0.10956	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.07021	3.23;3.32;3.23;3.32	3.02	0.965	0.19661	.	2.270650	0.04553	U	0.390220	T	0.11110	0.0271	M	0.67397	2.05	0.09310	N	1	B;B;B;B	0.12013	0.005;0.005;0.003;0.005	B;B;B;B	0.12837	0.008;0.008;0.004;0.008	T	0.38436	-0.9661	9	.	.	.	-3.8301	4.8619	0.13588	0.37:0.5221:0.0:0.1079	.	348;389;482;441	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	L	439;348;441;389;482	ENSP00000356456:P439L;ENSP00000356453:P441L;ENSP00000356455:P389L;ENSP00000399679:P482L	.	P	+	2	0	PRG4	184542919	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.060000	0.14342	0.129000	0.18514	0.186000	0.17326	CCT		0.647	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		25	44	0	0	0	1	0	25	44					T	186276296	C	T	186276296	3	4	479	1	0	0	0	0	1	0	0	0	12481	681	24	3	1467	3	PRG4	1	186276296	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	24	186276296	62974325	11	32086			1	50		2	2	25	C		6.279535e-05
IRF6	3664	broad.mit.edu	37	chr1	209963883	209963890	+	Frame_Shift_Del	DEL	TCTCTCAA	TCTCTCAA	-																															aatagcttgaccttcttttgTctctcaatcaggttgggagc																								rs375104318|rs121434231		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:209963883_209963890delTCTCTCAA	ENST00000367021.3	-	7	1182_1189	c.1010_1017delTTGAGAGA	c.(1009-1017)attgagagafs	p.IER337fs	IRF6_ENST00000542854.1_Frame_Shift_Del_p.IER242fs|RP3-434O14.8_ENST00000430751.1_RNA	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	337					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CCTTCTTTTGTCTCTCAATCAGGTTGGG	0.481										HNSCC(57;0.16)																												ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28	GRCh37	CM081673	IRF6	M	rs121434231	c.(1009-1017)afs		interferon regulatory factor 6																																				SO:0001589	frameshift_variant	3664				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	g.chr1:209963883_209963890delTCTCTCAA	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1010_1017delTTGAGAGA	1.37:g.209963883_209963890delTCTCTCAA	ENSP00000355988:p.Ile337fs	HNSCC(57;0.16)				IRF6_ENST00000542854.1_Frame_Shift_Del_p.IER242fs	p.IER337fs	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	7	1182_1189	-			337					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Frame_Shift_Del	DEL	ENST00000367021.3	37	c.1010_1017delTTGAGAGA	CCDS1492.1																																																																																				0.481	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		14	52						14	52	---	---	---	---	-	209963890	TCTCTCAA	-	209963883	7	5	479	1	0	1	0	1	0	0	0	0	7834	1664	58	0	398	0	IRF6	1	209963883	Frame_Shift_Del	DEL	TCTCTCAA	TCGA-ZG-A9KY-01A-11D-A41K-08	23687587	209963883	39286738	12	32087											
LYST	1130	broad.mit.edu	37	chr1	235840908	235840908	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtatttgagtctccatttcTatttctgatggctgaaattt	8	20	7	6	0	3	3	0	3	3	0	4	3	3	3	1	1	0	2	1	1	3	6			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:235840908T>C	ENST00000389794.3	-	49	10986	c.10812A>G	c.(10810-10812)atA>atG	p.I3604M	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.I3604M			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3604					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				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)			TCTCCATTTCTATTTCTGATG	0.328																																						ENST00000389794.3																			0				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						c.(10810-10812)atA>atG		lysosomal trafficking regulator							99	91	93					1																	235840908		2203	4300	6503	SO:0001583	missense	1130				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	g.chr1:235840908T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10812A>G	1.37:g.235840908T>C	ENSP00000374444:p.Ile3604Met					LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.I3604M	p.I3604M			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		49	10986	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3604					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.10812A>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.785419	0.31593	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.62639	0.01;0.01	5.7	1.89	0.25635	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.040397	0.85682	D	0.000000	T	0.41858	0.1177	N	0.20986	0.625	0.80722	D	1	B	0.24576	0.106	B	0.16722	0.016	T	0.12915	-1.0529	10	0.45353	T	0.12	.	6.4136	0.21704	0.37:0.0:0.243:0.387	.	3604	Q99698	LYST_HUMAN	M	3604	ENSP00000374444:I3604M;ENSP00000374443:I3604M	ENSP00000374443:I3604M	I	-	3	3	LYST	233907531	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.635000	0.24629	0.054000	0.16065	-0.313000	0.08912	ATA		0.328	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			22	50	0	0	0	1	0	22	50					C	235840908	T	C	235840908	3	2	479	1	0	0	0	0	1	0	0	0	9128	1512	53	4	613	4	LYST	1	235840908	Missense_Mutation	SNP	T	TCGA-ZG-A9KY-01A-11D-A41K-08	25877025	235840908	13409713	13	32088											
ANKAR	150709	broad.mit.edu	37	chr2	190541783	190541786	+	Frame_Shift_Del	DEL	AAAT	AAAT	-																															cctgatggaaaacctcaaacAaataaagacattttttcaga																										TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr2:190541783_190541786delAAAT	ENST00000520309.1	+	2	655_658	c.567_570delAAAT	c.(565-570)acaaatfs	p.TN189fs	ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000438402.2_Frame_Shift_Del_p.TN189fs|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000431575.2_Frame_Shift_Del_p.TN118fs|ANKAR_ENST00000313581.4_Frame_Shift_Del_p.TN189fs	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	189						integral component of membrane (GO:0016021)				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)			AACCTCAAACAAATAAAGACATTT	0.348																																						ENST00000520309.1																			0				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						c.(565-570)acfs		ankyrin and armadillo repeat containing				0,4266		0,0,2133						5.5	1			24	2,8250		0,2,4124	no	frameshift	ANKAR	NM_144708.3		0,2,6257	A1A1,A1R,RR		0.0242,0.0,0.016				2,12516				SO:0001589	frameshift_variant	150709					integral to membrane	binding	g.chr2:190541783_190541786delAAAT	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.567_570delAAAT	2.37:g.190541783_190541786delAAAT	ENSP00000427882:p.Thr189fs					ANKAR_ENST00000313581.4_Frame_Shift_Del_p.TN189fs|ANKAR_ENST00000438402.2_Frame_Shift_Del_p.TN189fs|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000431575.2_Frame_Shift_Del_p.TN118fs|ANKAR_ENST00000461516.1_Intron	p.TN189fs	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		2	655_658	+			189					Q3ZCS6|Q4G0M2|Q6ZU02	Frame_Shift_Del	DEL	ENST00000520309.1	37	c.567_570delAAAT	CCDS33351.2																																																																																				0.348	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		19	35						19	35	---	---	---	---	-	190541786	AAAT	-	190541783	7	5	479	1	0	1	0	1	0	0	0	0	623	117	5	0	569	0	ANKAR	2	190541783	Frame_Shift_Del	DEL	AAAT	TCGA-ZG-A9KY-01A-11D-A41K-08		190541783	52657590	14	32089											
SATB2	23314	broad.mit.edu	37	chr2	200137089	200137089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattcagccacgtccaccgCggagcccaggtgctctttca	8	9	9	15	3	3	0	2	0	1	0	4	1	4	1	4	2	3	1	4	2	1	3	rs372032415		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr2:200137089C>T	ENST00000417098.1	-	11	2863	c.2047G>A	c.(2047-2049)Gcg>Acg	p.A683T	SATB2_ENST00000457245.1_Missense_Mutation_p.A683T|SATB2_ENST00000260926.5_Missense_Mutation_p.A683T|SATB2_ENST00000443023.1_Missense_Mutation_p.A624T|SATB2_ENST00000428695.1_Missense_Mutation_p.A565T	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	683					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACGTCCACCGCGGAGCCCAGG	0.572																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1870-1872)Gcg>Acg		SATB homeobox 2		C	THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	144	132	136		2047,2047,2047	5.5	0.1	2		136	0,8600		0,0,4300	no	missense,missense,missense	SATB2	NM_001172509.1,NM_001172517.1,NM_015265.3	58,58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	683/734,683/734,683/734	200137089	2,13004	2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137089C>T	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.2047G>A	2.37:g.200137089C>T	ENSP00000401112:p.Ala683Thr					SATB2_ENST00000457245.1_Missense_Mutation_p.A683T|SATB2_ENST00000260926.5_Missense_Mutation_p.A683T|SATB2_ENST00000417098.1_Missense_Mutation_p.A683T|SATB2_ENST00000428695.1_Missense_Mutation_p.A565T	p.A624T			Q9UPW6	SATB2_HUMAN			10	3335	-			683					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1870G>A	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455982	0.43634	4.54E-4	0.0	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.5	5.5	0.81552	.	0.124358	0.53938	D	0.000048	T	0.23572	0.0570	N	0.08118	0	0.42572	D	0.993189	P;P	0.35011	0.476;0.48	B;B	0.22753	0.019;0.041	T	0.07578	-1.0765	10	0.25751	T	0.34	-11.0282	19.762	0.96323	0.0:1.0:0.0:0.0	.	565;683	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	T	683;624;683;565;683	ENSP00000401112:A683T;ENSP00000388764:A624T;ENSP00000260926:A683T;ENSP00000388581:A565T;ENSP00000405420:A683T	ENSP00000260926:A683T	A	-	1	0	SATB2	199845334	1.000000	0.71417	0.147000	0.22382	0.222000	0.24845	5.910000	0.69931	2.741000	0.93983	0.650000	0.86243	GCG		0.572	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		23	66	0	0	0	1	0	23	66					T	200137089	C	T	200137089	3	4	479	1	0	0	0	0	1	0	0	0	13854	768	27	1	158	1	SATB2	2	200137089	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	9595306	200137089	43062284	15	32090											
RUFY4	285180	broad.mit.edu	37	chr2	218940430	218940430	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtggccagaagggaggaGcaagccgaggtgtccctgca	9	6	16	10	1	0	1	0	0	0	1	1	4	1	3	3	4	3	2	3	4	2	1			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr2:218940430G>A	ENST00000344321.7	+	9	1733	c.1215G>A	c.(1213-1215)gaG>gaA	p.E405E	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000374155.3_Silent_p.E425E	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	405							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		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)		GAAGGGAGGAGCAAGCCGAGG	0.562																																						ENST00000374155.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1273-1275)gaG>gaA		RUN and FYVE domain containing 4							87	84	85					2																	218940430		2026	4179	6205	SO:0001819	synonymous_variant	285180						metal ion binding	g.chr2:218940430G>A	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"Zinc fingers, FYVE domain containing"	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1215G>A	2.37:g.218940430G>A						RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Silent_p.E405E|RUFY4_ENST00000463872.1_3'UTR	p.E425E			Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1685	+		Renal(207;0.0915)	405					Q6ZR96	Silent	SNP	ENST00000344321.7	37	c.1275G>A																																																																																					0.562	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		10	69	0	0	0	1	0	10	69					A	218940430	G	A	218940430	2	1	479	1	0	0	0	0	0	0	0	1	13741	962	34	3		3	RUFY4	2	218940430	Silent	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	18803341	218940430	24258943	16	32091											
INHA	3623	broad.mit.edu	37	chr2	220437228	220437228	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatgccttggggcccccCgcggtgaccagggaaggtgg	5	7	18	11	2	0	1	0	1	0	0	0	3	0	3	5	7	1	0	5	7	1	2			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr2:220437228C>T	ENST00000243786.2	+	1	312	c.132C>T	c.(130-132)ccC>ccT	p.P44P	OBSL1_ENST00000404537.1_5'Flank|OBSL1_ENST00000603926.1_5'Flank|OBSL1_ENST00000373873.4_5'Flank|OBSL1_ENST00000373876.1_5'Flank|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000265318.4_5'Flank|OBSL1_ENST00000289656.3_5'Flank|INHA_ENST00000489456.1_Intron	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	44					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGGGGCCCCCCGCGGTGACCA	0.687											OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000243786.2																			0				large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(130-132)ccC>ccT		inhibin, alpha							17	19	18					2																	220437228		2200	4296	6496	SO:0001819	synonymous_variant	3623				cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	g.chr2:220437228C>T		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.132C>T	2.37:g.220437228C>T			OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2266	INHA_ENST00000489456.1_Intron	p.P44P	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	1	312	+		Renal(207;0.0183)	44					A8K8H5	Silent	SNP	ENST00000243786.2	37	c.132C>T	CCDS2444.1																																																																																				0.687	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1			3	4	0	0	0	1	0	3	4					T	220437228	C	T	220437228	2	4	479	1	0	0	0	0	0	0	0	1	7740	639	23	2		2	INHA	2	220437228	Silent	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	1496798	220437228	22762145	17	32092											
VILL	50853	broad.mit.edu	37	chr3	38047368	38047368	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgaagactcacccagcagGgaggagcccggccacaccca	11	2	11	17	1	1	2	1	1	0	1	1	4	1	4	5	3	2	1	5	3	1	0			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr3:38047368G>C	ENST00000283713.6	+	17	2302	c.2036G>C	c.(2035-2037)gGg>gCg	p.G679A	VILL_ENST00000383759.2_Missense_Mutation_p.G679A|VILL_ENST00000465644.1_Missense_Mutation_p.G397A			O15195	VILL_HUMAN	villin-like	679					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CACCCAGCAGGGAGGAGCCCG	0.612																																						ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(2035-2037)gGg>gCg		villin-like							98	100	100					3																	38047368		2203	4300	6503	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38047368G>C		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2036G>C	3.37:g.38047368G>C	ENSP00000283713:p.Gly679Ala					VILL_ENST00000465644.1_Missense_Mutation_p.G397A|VILL_ENST00000383759.2_Missense_Mutation_p.G679A	p.G679A			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	17	2302	+			679					A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.2036G>C	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716705	0.68844	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.53423	0.62;0.62;0.62	4.5	3.6	0.41247	Gelsolin domain (1);	0.104238	0.64402	D	0.000003	T	0.59783	0.2219	M	0.69823	2.125	0.37716	D	0.924724	P	0.45986	0.87	P	0.55508	0.777	T	0.65010	-0.6272	10	0.45353	T	0.12	-19.8631	11.5153	0.50518	0.0917:0.0:0.9083:0.0	.	679	O15195	VILL_HUMAN	A	679;679;665;397	ENSP00000283713:G679A;ENSP00000373266:G679A;ENSP00000422096:G397A	ENSP00000283713:G679A	G	+	2	0	VILL	38022372	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.241000	0.51376	0.986000	0.38683	0.462000	0.41574	GGG		0.612	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		29	73	0	0	0	1	0	29	73					C	38047368	G	C	38047368	3	2	479	1	0	0	0	0	1	0	0	0	17162	1232	43	5	2098	5	VILL	3	38047368	Missense_Mutation	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08		38047368	159975062	18	32093											
ZNF502	91392	broad.mit.edu	37	chr3	44763153	44763153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcaatcagaatacacacCttattcatcatcagagaatt	16	12	3	10	0	5	2	5	0	0	2	5	3	5	2	1	0	1	0	1	0	5	5			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr3:44763153C>T	ENST00000296091.4	+	4	1100	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F	ZNF502_ENST00000436624.2_Missense_Mutation_p.L282F|ZNF502_ENST00000449836.1_Missense_Mutation_p.L282F	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GAATACACACCTTATTCATCA	0.413																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(844-846)Ctt>Ttt		zinc finger protein 502							187	192	190					3																	44763153		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763153C>T	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.844C>T	3.37:g.44763153C>T	ENSP00000296091:p.Leu282Phe					ZNF502_ENST00000449836.1_Missense_Mutation_p.L282F|ZNF502_ENST00000436624.2_Missense_Mutation_p.L282F	p.L282F	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1100	+			282						Missense_Mutation	SNP	ENST00000296091.4	37	c.844C>T	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639268	0.47153	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624	T;T;T	0.13657	2.57;2.57;2.57	4.13	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19127	0.0459	M	0.83774	2.66	0.09310	N	1	B	0.22146	0.065	B	0.20184	0.028	T	0.16660	-1.0395	9	0.45353	T	0.12	.	8.8709	0.35316	0.0:0.7213:0.0:0.2787	.	282	Q8TBZ5	ZN502_HUMAN	F	282	ENSP00000397390:L282F;ENSP00000296091:L282F;ENSP00000406469:L282F	ENSP00000296091:L282F	L	+	1	0	ZNF502	44738157	0.009000	0.17119	0.966000	0.40874	0.997000	0.91878	0.172000	0.16704	0.508000	0.28173	0.655000	0.94253	CTT		0.413	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		29	179	0	0	0	1	0	29	179					T	44763153	C	T	44763153	3	4	479	1	0	0	0	0	1	0	0	0	17947	681	24	3	850	3	ZNF502	3	44763153	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	6715785	44763153	153259277	19	32094											
CCR3	1232	broad.mit.edu	37	chr3	46306948	46306948	+	Frame_Shift_Del	DEL	T	T	-																															tgtcagggggcataactgggTttttggccatggcatgtgta																										TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr3:46306948delT	ENST00000357422.2	+	4	842	c.299delT	c.(298-300)gttfs	p.V100fs	CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	100					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATAACTGGGTTTTTGGCCAT	0.488																																						ENST00000357422.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18						c.(298-300)gtfs		chemokine (C-C motif) receptor 3							181	175	177					3																	46306948		2203	4300	6503	SO:0001589	frameshift_variant	1232				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		g.chr3:46306948delT	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.299delT	3.37:g.46306948delT	ENSP00000350003:p.Val100fs					CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs	p.V100fs			P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	842	+			100					B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Frame_Shift_Del	DEL	ENST00000357422.2	37	c.299delT	CCDS2738.1																																																																																				0.488	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			7	202						7	202	---	---	---	---	-	46306948	T	-	46306948	7	5	479	1	0	1	0	1	0	0	0	0	2942	1725	60	0	368	0	CCR3	3	46306948	Frame_Shift_Del	DEL	T	TCGA-ZG-A9KY-01A-11D-A41K-08	1543795	46306948	151715482	20	32095											
BSN	8927	broad.mit.edu	37	chr3	49662488	49662488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccgaagcaggcttctgctaCcactcctggccatgagagcc	8	8	10	15	1	1	1	0	1	1	1	3	3	3	1	5	2	4	3	5	2	2	2			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr3:49662488C>T	ENST00000296452.4	+	2	419	c.305C>T	c.(304-306)aCc>aTc	p.T102I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	102					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			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)		GCTTCTGCTACCACTCCTGGC	0.602																																						ENST00000296452.4																			0				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						c.(304-306)aCc>aTc		bassoon presynaptic cytomatrix protein							41	45	44					3																	49662488		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49662488C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.305C>T	3.37:g.49662488C>T	ENSP00000296452:p.Thr102Ile						p.T102I	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	2	419	+			102					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.305C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256889	0.22965	.	.	ENSG00000164061	ENST00000296452	T	0.18810	2.19	4.95	4.04	0.47022	.	0.306378	0.25765	N	0.028452	T	0.14013	0.0339	N	0.22421	0.69	0.34588	D	0.715176	B	0.34015	0.435	B	0.30782	0.12	T	0.20806	-1.0264	10	0.36615	T	0.2	-2.2472	13.4975	0.61434	0.0:0.8443:0.1557:0.0	.	102	Q9UPA5	BSN_HUMAN	I	102	ENSP00000296452:T102I	ENSP00000296452:T102I	T	+	2	0	BSN	49637492	0.001000	0.12720	0.977000	0.42913	0.115000	0.19883	1.455000	0.35190	2.583000	0.87209	0.563000	0.77884	ACC		0.602	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		22	46	0	0	0	1	0	22	46					T	49662488	C	T	49662488	3	4	479	1	0	0	0	0	1	0	0	0	1530	507	18	3	311	3	BSN	3	49662488	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	3355540	49662488	148359942	21	32096											
ATR	545	broad.mit.edu	37	chr3	142272702	142272702	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcttcagagtccaaggattCcaatatgtgcttgatatttc	11	15	7	8	0	2	2	1	1	1	1	5	3	4	3	2	1	1	1	2	1	4	6			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr3:142272702C>A	ENST00000350721.4	-	11	2618	c.2497G>T	c.(2497-2499)Gaa>Taa	p.E833*	ATR_ENST00000383101.3_Nonsense_Mutation_p.E769*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	833					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			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						TCCAAGGATTCCAATATGTGC	0.313								Other conserved DNA damage response genes																														ENST00000350721.4																			0				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						c.(2497-2499)Gaa>Taa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							72	74	73					3																	142272702		2202	4298	6500	SO:0001587	stop_gained	545				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	g.chr3:142272702C>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2497G>T	3.37:g.142272702C>A	ENSP00000343741:p.Glu833*					ATR_ENST00000383101.3_Nonsense_Mutation_p.E769*	p.E833*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			11	2618	-			833					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Nonsense_Mutation	SNP	ENST00000350721.4	37	c.2497G>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	40	8.031629	0.98619	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	5.34	5.34	0.76211	.	0.530181	0.21044	N	0.081101	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-5.4949	12.4058	0.55439	0.0:0.9227:0.0:0.0773	.	.	.	.	X	833;769	.	ENSP00000343741:E833X	E	-	1	0	ATR	143755392	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.227000	0.51262	2.506000	0.84524	0.585000	0.79938	GAA		0.313	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		7	33	1	0	0.307466	1	0.307466	7	33					A	142272702	C	A	142272702	4	1	479	1	0	0	0	0	0	1	0	0	1204	864	30	5	5585	5	ATR	3	142272702	Nonsense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	92610214	142272702	55749728	22	32097											
PIGG	54872	broad.mit.edu	37	chr4	494202	494203	+	Frame_Shift_Ins	INS	-	-	CCACGCTG																															aggagccagttctaactggaINSccacgctgccaccacctctc																										TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr4:494202_494203insCCACGCTG	ENST00000453061.2	+	2	278_279	c.172_173insCCACGCTG	c.(172-174)accfs	p.-60fs	PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000509768.1_5'UTR|ZNF721_ENST00000511833.2_5'Flank|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000383028.4_Frame_Shift_Ins_p.-60fs|PIGG_ENST00000504346.1_5'UTR|ZNF721_ENST00000338977.5_5'Flank|PIGG_ENST00000310340.5_Frame_Shift_Ins_p.-60fs	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			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						TTCTAACTGGACCACGCTGCCA	0.401																																						ENST00000453061.2																			0				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						c.(172-174)cacfs		phosphatidylinositol glycan anchor biosynthesis, class G																																				SO:0001589	frameshift_variant	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:494202_494203insCCACGCTG		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.173_180dupCCACGCTG	4.37:g.494203_494210dupCCACGCTG	ENSP00000415203:p.Leu60fs					PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000504346.1_5'UTR|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000383028.4_Frame_Shift_Ins_p.H58fs|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000310340.5_Frame_Shift_Ins_p.H58fs|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000502311.1_3'UTR	p.H58fs	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			2	278_279	+			58					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Frame_Shift_Ins	INS	ENST00000453061.2	37	c.172_173insCCACGCTG	CCDS46992.1																																																																																				0.401	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		11	77						11	77	---	---	---	---	CCACGCTG	494203	-	CCACGCTG	494202	7	5	479	1	0	1	1	0	0	0	0	0	11888	275	10	0	178	0	PIGG	4	494202	Frame_Shift_Ins	INS	-	TCGA-ZG-A9KY-01A-11D-A41K-08		494202	190660074	23	32098											
GAK	2580	broad.mit.edu	37	chr4	887225	887225	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgatctcctgcagctggtgCaccacctcggcgatggacag	7	7	13	14	3	1	0	0	0	1	0	3	3	1	1	3	3	3	3	3	3	0	0			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr4:887225C>T	ENST00000314167.4	-	9	1040	c.930G>A	c.(928-930)gtG>gtA	p.V310V	GAK_ENST00000511163.1_Silent_p.V231V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	310	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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)		GCAGCTGGTGCACCACCTCGG	0.687																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(928-930)gtG>gtA		cyclin G associated kinase							32	33	33					4																	887225		2200	4297	6497	SO:0001819	synonymous_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:887225C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.930G>A	4.37:g.887225C>T						GAK_ENST00000511163.1_Silent_p.V231V	p.V310V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	9	1040	-			310			Protein kinase.		Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	c.930G>A	CCDS3340.1																																																																																				0.687	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		6	40	0	0	0	1	0	6	40					T	887225	C	T	887225	2	4	479	1	0	0	0	0	0	0	0	1	6195	697	25	3		3	GAK	4	887225	Silent	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	393023	887225	190267051	24	32099											
HTT	3064	broad.mit.edu	37	chr4	3134559	3134559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaatacattttctttggCggattgcattcctttgctgc	8	16	9	8	1	1	0	0	0	1	0	2	2	2	2	1	3	4	2	1	3	2	7	rs140979048	byFrequency	TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr4:3134559C>T	ENST00000355072.5	+	18	2559	c.2414C>T	c.(2413-2415)gCg>gTg	p.A805V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	805					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			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)		TTTTCTTTGGCGGATTGCATT	0.383													C|||	2	0.000399361	8e-04	0	5008	,	,		21808	0.001		0	False		,,,				2504	0					ENST00000355072.5																			0				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						c.(2413-2415)gCg>gTg		huntingtin							282	246	257					4																	3134559		1920	4137	6057	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3134559C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2414C>T	4.37:g.3134559C>T	ENSP00000347184:p.Ala805Val						p.A805V	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	18	2559	+		all_epithelial(65;0.18)	805					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.2414C>T	CCDS43206.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.41	1.631534	0.29068	.	.	ENSG00000197386	ENST00000355072	T	0.65549	-0.16	4.88	-3.95	0.04118	Armadillo-like helical (1);Armadillo-type fold (1);	0.871262	0.10314	N	0.689612	T	0.24928	0.0605	N	0.01267	-0.92	0.09310	N	0.999993	B	0.06786	0.001	B	0.04013	0.001	T	0.16041	-1.0416	10	0.27082	T	0.32	.	4.7139	0.12886	0.1157:0.1334:0.1154:0.6355	.	805	P42858	HD_HUMAN	V	805	ENSP00000347184:A805V	ENSP00000347184:A805V	A	+	2	0	HTT	3104357	0.752000	0.28338	0.738000	0.30950	0.821000	0.46438	-0.207000	0.09384	-0.729000	0.04875	-0.182000	0.12963	GCG		0.383	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		69	88	0	0	0	1	0	69	88					T	3134559	C	T	3134559	3	4	479	1	0	0	0	0	1	0	0	0	7457	768	27	1	2484	1	HTT	4	3134559	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	2247334	3134559	188019717	25	32100											
CC2D2A	57545	broad.mit.edu	37	chr4	15564984	15564984	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtaatcattagcattttGggcctaagccttttcaagct	9	16	7	9	0	3	0	2	0	1	0	3	0	3	0	2	1	3	3	2	1	4	7			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr4:15564984G>A	ENST00000503292.1	+	25	3201	c.3021G>A	c.(3019-3021)ttG>ttA	p.L1007L	CC2D2A_ENST00000389652.5_Silent_p.L958L|CC2D2A_ENST00000413206.1_Silent_p.L1007L|RP11-799M12.2_ENST00000609724.1_RNA|CC2D2A_ENST00000424120.1_Silent_p.L1007L	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1007					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				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						TTAGCATTTTGGGCCTAAGCC	0.488																																						ENST00000424120.1																			0				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						c.(3019-3021)ttG>ttA		coiled-coil and C2 domain containing 2A							55	54	54					4																	15564984		1884	4100	5984	SO:0001819	synonymous_variant	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15564984G>A	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3021G>A	4.37:g.15564984G>A						CC2D2A_ENST00000503292.1_Silent_p.L1007L|CC2D2A_ENST00000389652.5_Silent_p.L958L|CC2D2A_ENST00000413206.1_Silent_p.L1007L	p.L1007L			Q9P2K1	C2D2A_HUMAN			24	3275	+			1007					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Silent	SNP	ENST00000503292.1	37	c.3021G>A	CCDS47026.1																																																																																				0.488	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		4	6	0	0	0	1	0	4	6					A	15564984	G	A	15564984	2	1	479	1	0	0	0	0	0	0	0	1	2728	1339	47	3		3	CC2D2A	4	15564984	Silent	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	12430425	15564984	175589292	26	32101											
GPR125	166647	broad.mit.edu	37	chr4	22389682	22389682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccggcttttaggtaagccGttctgcacgcttccttccac	6	12	9	14	3	1	0	0	0	1	0	3	0	3	0	4	2	3	5	4	2	2	6	rs146569496		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr4:22389682G>A	ENST00000334304.5	-	19	3881	c.3612C>T	c.(3610-3612)aaC>aaT	p.N1204N	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1204					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			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)				TAGGTAAGCCGTTCTGCACGC	0.522													G|||	1	0.000199681	0	0	5008	,	,		16885	0.001		0	False		,,,				2504	0					ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(3610-3612)aaC>aaT		G protein-coupled receptor 125		G		1,4405	2.1+/-5.4	0,1,2202	99	91	94		3612	-4.5	0.9	4	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR125	NM_145290.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		1204/1322	22389682	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22389682G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3612C>T	4.37:g.22389682G>A						GPR125_ENST00000282943.5_5'UTR	p.N1204N	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3881	-		Breast(46;0.198)	1204					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.3612C>T	CCDS33964.1																																																																																				0.522	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			58	85	0	0	0	1	0	58	85					A	22389682	G	A	22389682	2	1	479	1	0	0	0	0	0	0	0	1	6639	1136	40	1		1	GPR125	4	22389682	Silent	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	6824698	22389682	168764594	27	32102											
SMARCAD1	56916	broad.mit.edu	37	chr4	95200079	95200080	+	Splice_Site	INS	-	-	A																															gtgttctctttgagtcacagINSaaaaaaacacagaaatgtgc																										TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr4:95200079_95200080insA	ENST00000354268.4	+	19	2369_2370		c.e19-1		SMARCAD1_ENST00000457823.2_Frame_Shift_Ins_p.E768fs|SMARCAD1_ENST00000509418.1_Splice_Site			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1						ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			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)		TTGAGTCACAGAAAAAAACACA	0.317																																						ENST00000457823.2																			0				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						c.(2302-2304)aaafs		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1																																				SO:0001630	splice_region_variant	56916				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	g.chr4:95200079_95200080insA	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2297-1->A	4.37:g.95200086_95200086dupA						SMARCAD1_ENST00000354268.4_Splice_Site|SMARCAD1_ENST00000509418.1_Splice_Site	p.K768fs	NM_001128429.2|NM_020159.4	NP_001121901.1|NP_064544.2	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	19	2577_2578	+			766					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Frame_Shift_Ins	INS	ENST00000354268.4	37	c.2302_2303insA	CCDS3639.1																																																																																				0.317	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159	Intron	17	33						17	33	---	---	---	---	A	95200080	-	A	95200079	8	5	479	1	0	1	1	0	0	0	1	0	14772	956	33	0	2372	0	SMARCAD1	4	95200079	Splice_Site	INS	-	TCGA-ZG-A9KY-01A-11D-A41K-08	72810397	95200079	95954197	28	32103											
DCHS2	54798	broad.mit.edu	37	chr4	155219106	155219106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accaagagacccgtggttgtCctggctggaatgccctggtc	7	9	13	12	1	0	1	0	0	0	1	2	3	1	2	4	4	1	2	4	4	2	1			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr4:155219106C>T	ENST00000357232.4	-	18	4994	c.4995G>A	c.(4993-4995)agG>agA	p.R1665R		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1665	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1665R(1)		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)		CCGTGGTTGTCCTGGCTGGAA	0.433																																						ENST00000357232.3																			1	Substitution - coding silent(1)	p.R1665R(1)	skin(1)	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						c.(4993-4995)agG>agA		dachsous cadherin-related 2							74	75	75					4																	155219106		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219106C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4995G>A	4.37:g.155219106C>T							p.R1665R	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4994	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1665			Cadherin 14.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.4995G>A	CCDS3785.1																																																																																				0.433	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		9	34	0	0	0	1	0	9	34					T	155219106	C	T	155219106	2	4	479	1	0	0	0	0	0	0	0	1	4288	854	30	3		3	DCHS2	4	155219106	Silent	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	60019027	155219106	35935170	29	32104											
PLRG1	5356	broad.mit.edu	37	chr4	155467028	155467028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggacggtcagaagccccaGgatgtcggtattcacttcca	9	9	12	11	2	2	1	2	0	0	1	4	3	3	3	3	4	1	1	3	4	2	3			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr4:155467028G>A	ENST00000499023.2	-	6	578	c.452C>T	c.(451-453)cCt>cTt	p.P151L	PLRG1_ENST00000393905.2_Missense_Mutation_p.P151L|PLRG1_ENST00000302078.5_Missense_Mutation_p.P142L|RNU6-1285P_ENST00000363480.1_RNA	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	151					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			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)				AGAAGCCCCAGGATGTCGGTA	0.423																																						ENST00000499023.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22						c.(451-453)cCt>cTt		pleiotropic regulator 1							65	59	61					4																	155467028		2203	4300	6503	SO:0001583	missense	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155467028G>A	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"WD repeat domain containing"	9089	protein-coding gene	gene with protein product	"transport and golgi organization 4 homolog (Drosophila)"	605961	"pleiotropic regulator 1 (PRL1, Arabidopsis homolog)", "pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.452C>T	4.37:g.155467028G>A	ENSP00000424417:p.Pro151Leu					PLRG1_ENST00000393905.2_Missense_Mutation_p.P151L|PLRG1_ENST00000302078.5_Missense_Mutation_p.P142L	p.P151L	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN			6	578	-	all_hematologic(180;0.215)	Renal(120;0.0854)	151					B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	c.452C>T	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.060197	0.55432	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078;ENST00000504341	T;T;T	0.61510	0.1;0.1;0.14	4.72	4.72	0.59763	.	0.237656	0.41823	D	0.000813	T	0.38532	0.1044	N	0.08118	0	0.43471	D	0.995688	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17258	-1.0375	10	0.28530	T	0.3	-7.5539	16.6431	0.85134	0.0:0.0:1.0:0.0	.	142;151	O43660-2;O43660	.;PLRG1_HUMAN	L	151;151;142;149	ENSP00000424417:P151L;ENSP00000377483:P151L;ENSP00000303191:P142L	ENSP00000303191:P142L	P	-	2	0	PLRG1	155686478	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.922000	0.70036	2.312000	0.78011	0.650000	0.86243	CCT		0.423	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		12	20	0	0	0	1	0	12	20					A	155467028	G	A	155467028	3	1	479	1	0	0	0	0	1	0	0	0	12106	1000	35	3	1132	3	PLRG1	4	155467028	Missense_Mutation	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	247922	155467028	35687248	30	32105											
GRIA1	2890	broad.mit.edu	37	chr5	152870478	152870478	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttgccttcttctgcacCggtttcctaggcgcggtagt	4	16	10	11	3	2	0	0	0	2	0	3	0	3	0	3	3	2	3	3	3	2	7			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr5:152870478C>T	ENST00000285900.5	+	1	373	c.30C>T	c.(28-30)acC>acT	p.T10T	GRIA1_ENST00000340592.5_Silent_p.T10T|GRIA1_ENST00000518862.1_Intron|GRIA1_ENST00000518783.1_5'Flank|GRIA1_ENST00000521843.2_5'Flank|GRIA1_ENST00000518142.1_Silent_p.T10T|GRIA1_ENST00000448073.4_5'Flank	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	10					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TCTTCTGCACCGGTTTCCTAG	0.527																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(28-30)acC>acT		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						236	236	236					5																	152870478		2203	4300	6503	SO:0001819	synonymous_variant	0				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	g.chr5:152870478C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.30C>T	5.37:g.152870478C>T						GRIA1_ENST00000518862.1_Intron|GRIA1_ENST00000518142.1_Silent_p.T10T|GRIA1_ENST00000340592.5_Silent_p.T10T	p.T10T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		1	373	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	10					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.30C>T	CCDS4322.1																																																																																				0.527	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			4	280	0	0	0	1	0	4	280					T	152870478	C	T	152870478	2	4	479	1	0	0	0	0	0	0	0	1	6767	639	23	2		2	GRIA1	5	152870478	Silent	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08		152870478	28044782	31	32106											
ZFP57	4340	broad.mit.edu	37	chr6	29640720	29640720	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgctaaaagtcaaagAacaatgggggcaacagaaga	17	8	10	6	0	2	3	1	0	1	3	2	3	2	3	0	2	3	2	0	2	7	3			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr6:29640720A>G	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Missense_Mutation_p.S390P|ZFP57_ENST00000376881.3_Missense_Mutation_p.S370P|ZFP57_ENST00000376883.1_Missense_Mutation_p.S370P	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AAAGTCAAAGAACAATGGGGG	0.517																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(1108-1110)Tct>Cct		ZFP57 zinc finger protein							321	347	338					6																	29640720		1261	2557	3818	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29640720A>G		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640720A>G						ZFP57_ENST00000376881.3_Missense_Mutation_p.S370P|ZFP57_ENST00000488757.1_Missense_Mutation_p.S390P	p.S370P			Q9NU63	ZFP57_HUMAN			6	1519	-			306					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.1108T>C	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	G	0.470	-0.884877	0.02511	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.76448	-1.02;-1.02;-1.02	3.95	2.14	0.27477	.	0.564757	0.14916	N	0.290924	T	0.24122	0.0584	N	0.02111	-0.68	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21724	-1.0237	10	0.44086	T	0.13	-1.92	1.3106	0.02097	0.1967:0.1719:0.4545:0.1769	.	390;370	Q9NU63-3;Q9NU63-2	.;.	P	390;370;370	ENSP00000418259:S390P;ENSP00000366078:S370P;ENSP00000366080:S370P	ENSP00000366078:S370P	S	-	1	0	ZFP57	29748699	0.000000	0.05858	0.003000	0.11579	0.042000	0.13812	-0.048000	0.11944	0.249000	0.21456	-0.213000	0.12676	TCT		0.517	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		90	171	0	0	0	1	0	90	171					G	29640720	A	G	29640720	1	3	479	0	1	0	0	0	0	0	0	0	17648	246	9	4		4	ZFP57	6	29640720	IGR	SNP	A	TCGA-ZG-A9KY-01A-11D-A41K-08		29640720	141474347	32	32107											
TAP1	6890	broad.mit.edu	37	chr6	32815728	32815728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtagcggtgctcatattgggGaaggggcttcccatccaaca	9	9	13	10	1	1	0	1	0	0	0	3	1	3	1	2	5	3	3	2	5	4	4			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr6:32815728G>T	ENST00000354258.4	-	8	2049	c.1888C>A	c.(1888-1890)Ccc>Acc	p.P630T	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.P369T|TAPSAR1_ENST00000453426.1_lincRNA	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	630	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	TCATATTGGGGAAGGGGCTTC	0.582																																						ENST00000354258.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(1888-1890)Ccc>Acc		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)							105	106	105					6																	32815728		1510	2709	4219	SO:0001583	missense	6890				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	g.chr6:32815728G>T		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"ATP binding cassette transporters / subfamily B"	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1888C>A	6.37:g.32815728G>T	ENSP00000346206:p.Pro630Thr					TAP1_ENST00000425148.2_Missense_Mutation_p.P369T|PSMB9_ENST00000395330.1_Intron	p.P630T	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN			8	2049	-			630			ABC transporter.		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.1888C>A	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.556089	0.00910	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.93133	-3.17;-3.17	5.31	1.1	0.20463	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.842342	0.10197	N	0.703865	T	0.55194	0.1905	N	0.01168	-0.975	0.09310	N	1	B	0.11235	0.004	B	0.17433	0.018	T	0.55717	-0.8097	10	0.13470	T	0.59	-12.4351	1.0155	0.01506	0.282:0.1606:0.4033:0.1542	.	630	Q03518	TAP1_HUMAN	T	630;369	ENSP00000346206:P630T;ENSP00000401919:P369T	ENSP00000346206:P630T	P	-	1	0	TAP1	32923706	0.000000	0.05858	0.031000	0.17742	0.010000	0.07245	-0.198000	0.09505	0.310000	0.22990	-0.366000	0.07423	CCC		0.582	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		22	68	1	0	7.41877e-09	1	7.78066e-09	22	68					T	32815728	G	T	32815728	3	4	479	1	0	0	0	0	1	0	0	0	15547	1174	41	5	554	5	TAP1	6	32815728	Missense_Mutation	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	3175008	32815728	138299339	33	32108											
KIAA1324L	222223	broad.mit.edu	37	chr7	86539140	86539140	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcttacctatgaatgtatCtgccagaatgatggattgtg	12	13	10	6	0	1	3	0	2	1	1	1	4	1	4	2	1	3	2	2	1	6	4			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr7:86539140C>A	ENST00000450689.2	-	16	2532	c.2347G>T	c.(2347-2349)Gat>Tat	p.D783Y	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.D616Y|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.D543Y|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.D712Y	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	783						integral component of membrane (GO:0016021)				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)					ATGAATGTATCTGCCAGAATG	0.358																																						ENST00000450689.2																			0				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						c.(2347-2349)Gat>Tat		KIAA1324-like							151	144	147					7																	86539140		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86539140C>A	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2347G>T	7.37:g.86539140C>A	ENSP00000413445:p.Asp783Tyr					KIAA1324L_ENST00000444627.1_Missense_Mutation_p.D712Y|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.D616Y|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.D543Y	p.D783Y	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			16	2532	-	Esophageal squamous(14;0.0058)		783					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2347G>T	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.474501|4.474501	0.84640|0.84640	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	T;T;T;T|.	0.25250|.	2.22;1.9;1.81;1.98|.	5.87|5.87	5.87|5.87	0.94306|0.94306	Mannose-6-phosphate receptor, binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79370|0.79370	0.4434|0.4434	M|M	0.80847|0.80847	2.515|2.515	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.997;0.99;0.99|.	T|T	0.78909|0.78909	-0.2018|-0.2018	10|5	0.59425|.	D|.	0.04|.	.|.	19.2063|19.2063	0.93732|0.93732	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	783;543;616|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	Y|I	783;543;712;616|743	ENSP00000413445:D783Y;ENSP00000297222:D543Y;ENSP00000397377:D712Y;ENSP00000402390:D616Y|.	ENSP00000297222:D543Y|.	D|R	-|-	1|2	0|0	KIAA1324L|KIAA1324L	86377076|86377076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	5.761000|5.761000	0.68801|0.68801	2.785000|2.785000	0.95823|0.95823	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.358	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		42	55	1	0	3.05275e-18	1	3.24119e-18	42	55					A	86539140	C	A	86539140	3	1	479	1	0	0	0	0	1	0	0	0	8224	913	32	5	770	5	KIAA1324L	7	86539140	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08		86539140	72599523	34	32109											
CCDC132	55610	broad.mit.edu	37	chr7	92970865	92970866	+	Frame_Shift_Del	DEL	AG	AG	-																															cgctgtatgggttggcagaaAgagtggtagccacggaatcc																										TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr7:92970865_92970866delAG	ENST00000305866.5	+	23	2313_2314	c.2185_2186delAG	c.(2185-2187)agafs	p.R729fs	CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000541136.1_Frame_Shift_Del_p.R540fs|CCDC132_ENST00000544910.1_Frame_Shift_Del_p.R699fs|CCDC132_ENST00000535481.1_Frame_Shift_Del_p.R449fs	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	729						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTGGCAGAAAGAGTGGTAGCC	0.411																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(2095-2097)afs		coiled-coil domain containing 132																																				SO:0001589	frameshift_variant	55610							g.chr7:92970865_92970866delAG	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2185_2186delAG	7.37:g.92970867_92970868delAG	ENSP00000307666:p.Arg729fs					CCDC132_ENST00000535481.1_Frame_Shift_Del_p.R449fs|CCDC132_ENST00000541136.1_Frame_Shift_Del_p.R540fs|CCDC132_ENST00000305866.5_Frame_Shift_Del_p.R729fs|CCDC132_ENST00000474412.1_3'UTR	p.R699fs	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		24	2315_2316	+	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)		729					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Frame_Shift_Del	DEL	ENST00000305866.5	37	c.2095_2096delAG	CCDS43617.1																																																																																				0.411	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		22	78						22	78	---	---	---	---	-	92970866	AG	-	92970865	7	5	479	1	0	1	0	1	0	0	0	0	2767	64	3	0	2317	0	CCDC132	7	92970865	Frame_Shift_Del	DEL	AG	TCGA-ZG-A9KY-01A-11D-A41K-08	6431725	92970865	66167798	35	32110											
EPO	2056	broad.mit.edu	37	chr7	100320382	100320382	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcaactcttcccagccGtgggagcccctgcagctgca	6	9	11	15	1	2	0	1	0	1	0	3	1	3	1	4	2	6	3	4	2	1	2			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr7:100320382G>A	ENST00000252723.2	+	4	523	c.342G>A	c.(340-342)ccG>ccA	p.P114P		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	114					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTTCCCAGCCGTGGGAGCCCC	0.657																																						ENST00000252723.2																			0				central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12						c.(340-342)ccG>ccA		erythropoietin	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						35	39	37					7																	100320382		2203	4300	6503	SO:0001819	synonymous_variant	2056				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	g.chr7:100320382G>A	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"Endogenous ligands"	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.342G>A	7.37:g.100320382G>A							p.P114P	NM_000799.2	NP_000790.2	P01588	EPO_HUMAN			4	523	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		114					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Silent	SNP	ENST00000252723.2	37	c.342G>A	CCDS5705.1																																																																																				0.657	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799		7	27	0	0	0	1	0	7	27					A	100320382	G	A	100320382	2	1	479	1	0	0	0	0	0	0	0	1	5188	1132	40	1		1	EPO	7	100320382	Silent	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	7349517	100320382	58818281	36	32111											
CCDC136	64753	broad.mit.edu	37	chr7	128446848	128446848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggaggagctgcagtGccatgaggcagagctgcagc	9	5	17	10	0	0	2	0	1	0	1	0	4	0	4	1	3	7	7	1	3	0	0			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr7:128446848G>A	ENST00000297788.4	+	9	1722	c.1355G>A	c.(1354-1356)tGc>tAc	p.C452Y	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Missense_Mutation_p.C399Y|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	452						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAGCTGCAGTGCCATGAGGCA	0.577																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(1354-1356)tGc>tAc		coiled-coil domain containing 136							25	25	25					7																	128446848		1981	4165	6146	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128446848G>A		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1355G>A	7.37:g.128446848G>A	ENSP00000297788:p.Cys452Tyr					CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Missense_Mutation_p.C399Y	p.C452Y	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			9	1722	+			452					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.1355G>A	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.556|0.556	-0.847518|-0.847518	0.02651|0.02651	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000494552|ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672	.|T;T;T	.|0.77750	.|-1.12;1.47;1.47	5.54|5.54	-0.659|-0.659	0.11424|0.11424	.|.	.|0.960024	.|0.08676	.|N	.|0.910111	T|T	0.50154|0.50154	0.1599|0.1599	N|N	0.13043|0.13043	0.29|0.29	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.06786	.|0.001;0.0;0.001	.|B;B;B	.|0.08055	.|0.003;0.0;0.003	T|T	0.41215|0.41215	-0.9521|-0.9521	5|10	.|0.02654	.|T	.|1	2.0E-4|2.0E-4	1.2268|1.2268	0.01935|0.01935	0.1822:0.138:0.4445:0.2353|0.1822:0.138:0.4445:0.2353	.|.	.|452;399;452	.|Q96JN2-2;C9JE17;Q96JN2	.|.;.;CC136_HUMAN	T|Y	329|399;452;452;452;43	.|ENSP00000420509:C399Y;ENSP00000297788:C452Y;ENSP00000417991:C43Y	.|ENSP00000297788:C452Y	A|C	+|+	1|2	0|0	CCDC136|CCDC136	128234084|128234084	0.055000|0.055000	0.20627|0.20627	0.087000|0.087000	0.20705|0.20705	0.930000|0.930000	0.56654|0.56654	0.365000|0.365000	0.20348|0.20348	0.184000|0.184000	0.20083|0.20083	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.577	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		7	13	0	0	0	1	0	7	13					A	128446848	G	A	128446848	3	1	479	1	0	0	0	0	1	0	0	0	2770	1319	46	3	1389	3	CCDC136	7	128446848	Missense_Mutation	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	28126466	128446848	30691815	37	32112											
ZNF777	27153	broad.mit.edu	37	chr7	149148162	149148162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggtgggccgctccccgcGctccatctgtgacatgaggt	5	9	13	14	3	1	2	0	2	1	0	3	2	3	2	4	3	0	2	4	3	0	0			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr7:149148162G>A	ENST00000247930.4	-	4	1338	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	339	Glu-rich.|KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGCTCCCCGCGCTCCATCTGT	0.537																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(1015-1017)Cgc>Tgc		zinc finger protein 777							93	96	95					7																	149148162		2039	4188	6227	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149148162G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1015C>T	7.37:g.149148162G>A	ENSP00000247930:p.Arg339Cys						p.R339C	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		4	1338	-	Melanoma(164;0.165)		339			Glu-rich.|KRAB.		Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.1015C>T	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124193	0.56613	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.00848	5.62	5.47	4.51	0.55191	.	0.000000	0.48286	D	0.000183	T	0.03434	0.0099	L	0.49126	1.545	0.40338	D	0.979002	D	0.89917	1.0	D	0.72075	0.976	T	0.51028	-0.8757	10	0.72032	D	0.01	-21.8343	12.3015	0.54876	0.0:0.0:0.7565:0.2434	.	339	Q9ULD5-2	.	C	339;82	ENSP00000247930:R339C	ENSP00000247930:R339C	R	-	1	0	ZNF777	148779095	0.740000	0.28207	0.996000	0.52242	0.474000	0.32979	3.328000	0.52052	2.567000	0.86603	0.650000	0.86243	CGC		0.537	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		33	52	0	0	0	1	0	33	52					A	149148162	G	A	149148162	3	1	479	1	0	0	0	0	1	0	0	0	18147	1087	38	1	1492	1	ZNF777	7	149148162	Missense_Mutation	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	20701314	149148162	9990501	38	32113											
MLL3	58508	broad.mit.edu	37	chr7	151877140	151877140	+	Frame_Shift_Del	DEL	C	C	-																															actgcgggtgagtcctgtgaCcccttctcctgtcgacctgc																										TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr7:151877140delC	ENST00000262189.6	-	37	7439	c.7221delG	c.(7219-7221)gggfs	p.G2407fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.G2407fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2407					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGTCCTGTGACCCCTTCTCCT	0.522																																						ENST00000355193.2																			0											c.(7219-7221)ggfs		lysine (K)-specific methyltransferase 2C							255	222	233					7																	151877140		2203	4300	6503	SO:0001589	frameshift_variant	58508							g.chr7:151877140delC	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7221delG	7.37:g.151877140delC	ENSP00000262189:p.Gly2407fs					KMT2C_ENST00000262189.6_Frame_Shift_Del_p.G2407fs	p.G2407fs							37	7439	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.7221delG	CCDS5931.1																																																																																				0.522	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			57	230						57	230	---	---	---	---	-	151877140	C	-	151877140	7	5	479	1	0	1	0	1	0	0	0	0	9622	494	18	0	7606	0	MLL3	7	151877140	Frame_Shift_Del	DEL	C	TCGA-ZG-A9KY-01A-11D-A41K-08	2728978	151877140	7261523	39	32114											
SNTG1	54212	broad.mit.edu	37	chr8	51705355	51705355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttctactgctgccagctCtgctaccacgagcaaagcaa	10	9	8	14	1	2	0	0	0	2	0	2	1	2	0	2	0	9	6	2	0	4	3			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr8:51705355C>T	ENST00000522124.1	+	19	2181	c.1520C>T	c.(1519-1521)tCt>tTt	p.S507F	SNTG1_ENST00000518864.1_Missense_Mutation_p.S507F|SNTG1_ENST00000517473.1_Missense_Mutation_p.S470F|SNTG1_ENST00000276467.5_Missense_Mutation_p.S470F	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	507					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCTGCCAGCTCTGCTACCACG	0.428																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(1519-1521)tCt>tTt		syntrophin, gamma 1							159	146	150					8																	51705355		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51705355C>T	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1520C>T	8.37:g.51705355C>T	ENSP00000429842:p.Ser507Phe					SNTG1_ENST00000518864.1_Missense_Mutation_p.S507F|SNTG1_ENST00000276467.5_Missense_Mutation_p.S470F|SNTG1_ENST00000517473.1_Missense_Mutation_p.S470F	p.S507F	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			19	2181	+		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)	507					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.1520C>T	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173250	0.38413	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.32272	1.46;1.46;2.02;2.02	5.45	5.45	0.79879	.	0.954601	0.08789	N	0.893485	T	0.41190	0.1148	N	0.14661	0.345	0.39781	D	0.972297	D;D	0.60160	0.987;0.978	P;P	0.60682	0.878;0.758	T	0.45527	-0.9255	10	0.62326	D	0.03	-21.4521	18.2622	0.90039	0.0:1.0:0.0:0.0	.	470;507	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	F	507;507;470;470	ENSP00000429276:S507F;ENSP00000429842:S507F;ENSP00000431123:S470F;ENSP00000276467:S470F	ENSP00000276467:S470F	S	+	2	0	SNTG1	51867908	1.000000	0.71417	0.810000	0.32431	0.033000	0.12548	3.588000	0.53964	2.544000	0.85801	0.637000	0.83480	TCT		0.428	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			21	52	0	0	0	1	0	21	52					T	51705355	C	T	51705355	3	4	479	1	0	0	0	0	1	0	0	0	14874	913	32	3	1586	3	SNTG1	8	51705355	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08		51705355	94658667	40	32115											
RPS20	6224	broad.mit.edu	37	chr8	56986676	56986676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gattcgaattcggtgaattgCcacctccggctccacgggtg	7	10	12	12	4	0	1	0	1	0	0	4	3	2	1	4	3	1	1	4	3	2	3			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr8:56986676C>T	ENST00000521262.1	-	2	299	c.46G>A	c.(46-48)Gca>Aca	p.A16T	RPS20_ENST00000009589.3_Missense_Mutation_p.A16T|RPS20_ENST00000523936.1_Missense_Mutation_p.A16T|CTA-397H3.3_ENST00000521403.1_RNA|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000519606.1_Missense_Mutation_p.A16T|SNORD54_ENST00000459159.1_RNA|RPS20_ENST00000524349.1_5'UTR|RPS20_ENST00000519807.1_Missense_Mutation_p.A16T|RPS20_ENST00000520627.1_Intron|RPS20_ENST00000518875.1_Missense_Mutation_p.A16T			P60866	RS20_HUMAN	ribosomal protein S20	16					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			CGGTGAATTGCCACCTCCGGC	0.473																																						ENST00000519807.1																			0											c.(46-48)Gca>Aca		ribosomal protein S20							70	74	72					8																	56986676		2203	4300	6503	SO:0001583	missense	6224				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr8:56986676C>T	L06498	CCDS6163.1, CCDS55231.1	8q12.1	2011-04-05				ENSG00000008988		"S ribosomal proteins"	10405	protein-coding gene	gene with protein product		603682				9582194, 8479924	Standard	NM_001023		Approved	S20	uc003xsm.2	P60866		ENST00000521262.1:c.46G>A	8.37:g.56986676C>T	ENSP00000427788:p.Ala16Thr					RPS20_ENST00000009589.3_Missense_Mutation_p.A16T|RPS20_ENST00000520627.1_Intron|RPS20_ENST00000524349.1_5'UTR|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000518875.1_Missense_Mutation_p.A16T|RPS20_ENST00000519606.1_Missense_Mutation_p.A16T|RPS20_ENST00000521262.1_Missense_Mutation_p.A16T|RPS20_ENST00000523936.1_Missense_Mutation_p.A16T	p.A16T	NM_001146227.1	NP_001139699.1	P60866	RS20_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		2	171	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	16					B2R4F4|B4DW28|P17075|Q5M8S9	Missense_Mutation	SNP	ENST00000521262.1	37	c.46G>A		.	.	.	.	.	.	.	.	.	.	C	10.10	1.258703	0.23051	.	.	ENSG00000008988	ENST00000519807;ENST00000009589;ENST00000521262;ENST00000523936;ENST00000519606;ENST00000518875	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.39009	0.1062	N	0.05031	-0.125	0.80722	D	1	B;B	0.14012	0.0;0.009	B;B	0.13407	0.001;0.009	T	0.17349	-1.0372	9	0.27785	T	0.31	-27.6868	18.4055	0.90535	0.0:1.0:0.0:0.0	.	16;16	P60866;B4DW28	RS20_HUMAN;.	T	16	.	ENSP00000009589:A16T	A	-	1	0	RPS20	57149230	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	5.691000	0.68249	2.349000	0.79799	0.563000	0.77884	GCA		0.473	RPS20-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378166.1	NM_001023		4	135	0	0	0	1	0	4	135					T	56986676	C	T	56986676	3	4	479	1	0	0	0	0	1	0	0	0	13632	739	26	3	425	3	RPS20	8	56986676	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	5281321	56986676	89377346	41	32116											
SHARPIN	81858	broad.mit.edu	37	chr8	145154289	145154289	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacacaggcaccgtccgatGacccagcgttgcacggctgg	9	5	12	15	4	0	1	0	1	0	0	1	2	1	1	3	3	2	4	3	3	0	1			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr8:145154289G>A	ENST00000398712.2	-	6	1249	c.813C>T	c.(811-813)gtC>gtT	p.V271V	SHARPIN_ENST00000533948.1_5'Flank	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	271	Interaction with SHANK1. {ECO:0000250}.|Ubiquitin-like.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	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)			ACCGTCCGATGACCCAGCGTT	0.632																																						ENST00000398712.2																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7						c.(811-813)gtC>gtT		SHANK-associated RH domain interactor							51	61	58					8																	145154289		2152	4254	6406	SO:0001819	synonymous_variant	81858				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	g.chr8:145154289G>A	AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.813C>T	8.37:g.145154289G>A							p.V271V	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	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)		6	1249	-	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)		271			Interaction with SHANK1 (By similarity).|Ubiquitin-like.		A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Silent	SNP	ENST00000398712.2	37	c.813C>T	CCDS43777.1																																																																																				0.632	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382901.1	NM_030974		17	59	0	0	0	1	0	17	59					A	145154289	G	A	145154289	2	1	479	1	0	0	0	0	0	0	0	1	14267	1277	45	3		3	SHARPIN	8	145154289	Silent	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	88167613	145154289	1209733	42	32117											
IFNA17	3451	broad.mit.edu	37	chr9	21228107	21228107	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctgaggcagatcacagccTagagaacagatggatttgta	13	9	12	7	0	2	4	1	1	1	3	2	6	2	5	1	2	2	2	1	2	3	3	rs530261263	byFrequency	TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr9:21228107T>C	ENST00000413767.2	-	1	114	c.66A>G	c.(64-66)ctA>ctG	p.L22L		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	22					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GATCACAGCCTAGAGAACAGA	0.502													t|||	3	0.000599042	0	0	5008	,	,		20078	0.001		0.001	False		,,,				2504	0.001					ENST00000413767.2																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9						c.(64-66)ctA>ctG		interferon, alpha 17							72	73	72					9																	21228107		2202	4282	6484	SO:0001819	synonymous_variant	3451				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	g.chr9:21228107T>C		CCDS6500.1	9p22	2010-12-10			ENSG00000234829	ENSG00000234829		"Interferons"	5422	protein-coding gene	gene with protein product		147583				1385305	Standard	NM_021268		Approved	LEIF2C1, IFN-alphaI	uc003zos.1	P01571	OTTHUMG00000019667	ENST00000413767.2:c.66A>G	9.37:g.21228107T>C							p.L22L	NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN		Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	114	-			22					Q14639|Q4KMT4|Q5VZ53|Q7M4Q4	Silent	SNP	ENST00000413767.2	37	c.66A>G	CCDS6500.1																																																																																				0.502	IFNA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051896.1	NM_021268		4	92	0	0	0	1	0	4	92					C	21228107	T	C	21228107	2	2	479	1	0	0	0	0	0	0	0	1	7536	1509	53	4		4	IFNA17	9	21228107	Silent	SNP	T	TCGA-ZG-A9KY-01A-11D-A41K-08		21228107	119985324	43	32118											
ROR2	4920	broad.mit.edu	37	chr9	94486381	94486381	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcatggggatgaactgggGctgtgggaagggcggggcct	6	8	20	7	1	1	1	1	1	0	0	1	3	1	3	1	8	1	1	1	8	2	1	rs141235720	byFrequency	TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr9:94486381G>C	ENST00000375708.3	-	9	2593	c.2395C>G	c.(2395-2397)Ccc>Gcc	p.P799A	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	799	Pro-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.P799S(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						ATGAACTGGGGCTGTGGGAAG	0.672																																						ENST00000375708.3																			1	Substitution - Missense(1)	p.P799S(1)	lung(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						c.(2395-2397)Ccc>Gcc		receptor tyrosine kinase-like orphan receptor 2							48	55	52					9																	94486381		2203	4300	6503	SO:0001583	missense	4920				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	g.chr9:94486381G>C	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2395C>G	9.37:g.94486381G>C	ENSP00000364860:p.Pro799Ala					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	p.P799A	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2593	-			799			Pro-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2395C>G	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	9.682	1.149482	0.21288	.	.	ENSG00000169071	ENST00000375708	T	0.77489	-1.1	4.65	4.65	0.58169	.	0.000000	0.41938	D	0.000788	T	0.80919	0.4716	L	0.27053	0.805	0.53688	D	0.999972	D	0.76494	0.999	D	0.80764	0.994	T	0.78703	-0.2101	10	0.27082	T	0.32	.	17.7513	0.88435	0.0:0.0:1.0:0.0	.	799	Q01974	ROR2_HUMAN	A	799	ENSP00000364860:P799A	ENSP00000364860:P799A	P	-	1	0	ROR2	93526202	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.347000	0.59373	2.415000	0.81967	0.561000	0.74099	CCC		0.672	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			20	32	0	0	0	1	0	20	32					C	94486381	G	C	94486381	3	2	479	1	0	0	0	0	1	0	0	0	13527	1203	42	5	440	5	ROR2	9	94486381	Missense_Mutation	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	73258274	94486381	46727050	44	32119											
PTPLA	9200	broad.mit.edu	37	chr10	17645744	17645744	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaattaaacagtgaactatCtgtaagcaaatagaaaaaaa	22	8	5	6	0	1	2	0	1	1	1	1	2	1	2	1	0	3	2	1	0	11	4			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr10:17645744C>T	ENST00000361271.3	-	3	413		c.e3-1			NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A						fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						AGTGAACTATCTGTAAGCAAA	0.284																																						ENST00000361271.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						c.e3-1		protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A							34	33	33					10																	17645744		2200	4300	6500	SO:0001630	splice_region_variant	9200				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity	g.chr10:17645744C>T	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"cementum attachment protein"	610467	"protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.376-1G>A	10.37:g.17645744C>T								NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN			3	413	-								B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Splice_Site	SNP	ENST00000361271.3	37		CCDS7121.1	.	.	.	.	.	.	.	.	.	.	C	9.822	1.185925	0.21870	.	.	ENSG00000165996	ENST00000361271	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1832	0.89785	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPLA	17685750	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	3.681000	0.54648	2.369000	0.80426	0.460000	0.39030	.		0.284	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241	Intron	6	50	0	0	0	1	0	6	50					T	17645744	C	T	17645744	5	4	479	1	0	0	0	0	0	0	1	0	12774	927	32	3	511	3	PTPLA	10	17645744	Splice_Site	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08		17645744	117889003	45	32120											
SYT15	83849	broad.mit.edu	37	chr10	46967543	46967543	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagggggctgcaggtctcCgagggggcttgcaggtgctg	5	7	19	10	1	1	0	0	0	1	0	2	1	1	0	2	6	3	5	2	6	0	1	rs561143478		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr10:46967543C>T	ENST00000374321.4	-	4	600	c.534G>A	c.(532-534)tcG>tcA	p.S178S	RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Silent_p.S178S|SYT15_ENST00000374323.4_Silent_p.S231S|SYT15_ENST00000374325.3_Silent_p.S178S	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	178	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGCAGGTCTCCGAGGGGGCTT	0.627													C|||	1	0.000199681	0	0.0014	5008	,	,		33913	0		0	False		,,,				2504	0				Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(691-693)tcG>tcA		synaptotagmin XV							52	64	60					10																	46967543		2054	4195	6249	SO:0001819	synonymous_variant	83849					integral to membrane|plasma membrane		g.chr10:46967543C>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.534G>A	10.37:g.46967543C>T						SYT15_ENST00000503753.1_Silent_p.S178S|SYT15_ENST00000374325.3_Silent_p.S178S|SYT15_ENST00000374321.4_Silent_p.S178S	p.S231S			Q9BQS2	SYT15_HUMAN			3	1280	-			178			C2 1.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	ENST00000374321.4	37	c.693G>A	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	C	2.305	-0.359264	0.05138	.	.	ENSG00000204176	ENST00000374330	.	.	.	4.7	-9.4	0.00616	.	.	.	.	.	.	.	.	.	.	.	0.53688	D	0.99997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1951	0.15232	0.0882:0.0967:0.2217:0.5934	.	.	.	.	.	-1	.	.	.	-	.	.	SYT15	46387549	0.000000	0.05858	0.007000	0.13788	0.354000	0.29330	-7.108000	0.00044	-3.426000	0.00165	-3.078000	0.00066	.		0.627	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		5	56	0	0	0	1	0	5	56					T	46967543	C	T	46967543	2	4	479	1	0	0	0	0	0	0	0	1	15468	639	23	2		2	SYT15	10	46967543	Silent	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	29321799	46967543	88567204	46	32121											
OR52J3	119679	broad.mit.edu	37	chr11	5068207	5068207	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcattagcatgtgcattgTaattcgtcccgttttactta	8	16	9	8	2	0	0	0	0	0	0	2	0	1	0	1	1	3	5	1	1	4	7			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr11:5068207T>C	ENST00000380370.1	+	1	452	c.452T>C	c.(451-453)gTa>gCa	p.V151A		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V151A(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTGCATTGTAATTCGTCCC	0.473																																						ENST00000380370.1																			1	Substitution - Missense(1)	p.V151A(1)	large_intestine(1)	NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36						c.(451-453)gTa>gCa		olfactory receptor, family 52, subfamily J, member 3							196	129	152					11																	5068207		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068207T>C	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.452T>C	11.37:g.5068207T>C	ENSP00000369728:p.Val151Ala						p.V151A	NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	452	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	151					Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.452T>C	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	T	4.283	0.051688	0.08291	.	.	ENSG00000205495	ENST00000380370	T	0.37411	1.2	4.19	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000713	T	0.33411	0.0862	L	0.53729	1.69	0.09310	N	1	B	0.10296	0.003	B	0.22880	0.042	T	0.32929	-0.9888	10	0.62326	D	0.03	.	9.8235	0.40896	0.0:0.0:0.1731:0.8269	.	151	Q8NH60	O52J3_HUMAN	A	151	ENSP00000369728:V151A	ENSP00000369728:V151A	V	+	2	0	OR52J3	5024783	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	-0.496000	0.06436	0.626000	0.30322	0.533000	0.62120	GTA		0.473	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		9	38	0	0	0	1	0	9	38					C	5068207	T	C	5068207	3	2	479	1	0	0	0	0	1	0	0	0	11122	1638	57	4	454	4	OR52J3	11	5068207	Missense_Mutation	SNP	T	TCGA-ZG-A9KY-01A-11D-A41K-08		5068207	129938309	47	32122											
OR4S2	219431	broad.mit.edu	37	chr11	55418538	55418538	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttgcctgagcaacctgttTaagtcacccatgtatttctt	8	16	7	10	0	2	1	1	1	1	0	2	1	2	1	3	0	3	4	3	0	3	6			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr11:55418538T>G	ENST00000312422.2	+	1	159	c.159T>G	c.(157-159)ttT>ttG	p.F53L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GCAACCTGTTTAAGTCACCCA	0.393																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(157-159)ttT>ttG		olfactory receptor, family 4, subfamily S, member 2							235	187	204					11																	55418538		2181	4043	6224	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418538T>G	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.159T>G	11.37:g.55418538T>G	ENSP00000310337:p.Phe53Leu						p.F53L	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	159	+		all_epithelial(135;0.0748)	53					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.159T>G	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.266576	0.00259	.	.	ENSG00000174982	ENST00000312422	T	0.01076	5.37	5.36	-2.41	0.06562	GPCR, rhodopsin-like superfamily (1);	0.665977	0.13799	N	0.361947	T	0.00210	0.0006	N	0.00024	-2.705	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43458	-0.9390	10	0.02654	T	1	.	2.0438	0.03556	0.1119:0.2368:0.2203:0.431	.	53	Q8NH73	OR4S2_HUMAN	L	53	ENSP00000310337:F53L	ENSP00000310337:F53L	F	+	3	2	OR4S2	55175114	0.000000	0.05858	0.004000	0.12327	0.022000	0.10575	-8.444000	0.00020	-0.526000	0.06383	-0.384000	0.06662	TTT		0.393	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		4	85	0	0	0	1	0	4	85					G	55418538	T	G	55418538	3	3	479	1	0	0	0	0	1	0	0	0	11083	1751	61	5	161	5	OR4S2	11	55418538	Missense_Mutation	SNP	T	TCGA-ZG-A9KY-01A-11D-A41K-08	50350331	55418538	79587978	48	32123											
MYO7A	4647	broad.mit.edu	37	chr11	76868015	76868015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgagggcgcgaagattgagCagtacctgctggaaaagtca	12	7	14	8	3	1	2	1	1	0	1	2	5	1	3	1	2	3	3	1	2	4	2	rs41298133		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr11:76868015C>A	ENST00000409709.3	+	7	972	c.700C>A	c.(700-702)Cag>Aag	p.Q234K	MYO7A_ENST00000458637.2_Missense_Mutation_p.Q234K|MYO7A_ENST00000409619.2_Missense_Mutation_p.Q223K|MYO7A_ENST00000409893.1_Missense_Mutation_p.Q234K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	234	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			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						GAAGATTGAGCAGTACCTGCT	0.597																																						ENST00000409709.3																			0				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	GRCh37	CM950829	MYO7A	M	rs41298133	c.(700-702)Cag>Aag		myosin VIIA							73	80	78					11																	76868015		2053	4178	6231	SO:0001583	missense	4647				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	g.chr11:76868015C>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.700C>A	11.37:g.76868015C>A	ENSP00000386331:p.Gln234Lys					MYO7A_ENST00000458637.2_Missense_Mutation_p.Q234K|MYO7A_ENST00000409619.2_Missense_Mutation_p.Q223K|MYO7A_ENST00000409893.1_Missense_Mutation_p.Q234K	p.Q234K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			7	972	+			234			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.700C>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	c	33	5.258804	0.95368	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14	5.2	5.2	0.72013	Myosin head, motor domain (2);	0.000000	0.64402	D	0.000001	D	0.91026	0.7177	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.79108	0.987;0.982;0.992	D	0.86849	0.2022	10	0.02654	T	1	.	18.7506	0.91812	0.0:1.0:0.0:0.0	.	234;234;234	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	K	234;234;234;223;233;233;233;233	ENSP00000386331:Q234K;ENSP00000386689:Q234K;ENSP00000392185:Q234K;ENSP00000386635:Q223K	ENSP00000345075:Q233K	Q	+	1	0	MYO7A	76545663	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.752000	0.85141	2.412000	0.81896	0.651000	0.88453	CAG		0.597	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		4	61	1	0	0.184627	1	0.186799	4	61					A	76868015	C	A	76868015	3	1	479	1	0	0	0	0	1	0	0	0	10082	711	25	5	722	5	MYO7A	11	76868015	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	21449477	76868015	58138501	49	32124											
SIK3	23387	broad.mit.edu	37	chr11	116798051	116798051	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgatctgtttgaacttcCgacgtgcctccttttctgcc	5	15	8	13	3	2	2	0	2	2	0	4	4	4	2	4	0	3	1	4	0	1	4	rs369124898		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr11:116798051C>G	ENST00000292055.4	-	4	361	c.326G>C	c.(325-327)cGg>cCg	p.R109P	SIK3_ENST00000375300.1_Missense_Mutation_p.R167P|SIK3_ENST00000542607.1_Missense_Mutation_p.R109P|SIK3_ENST00000446921.2_Missense_Mutation_p.R167P|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.R8P	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	109	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			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						TTTGAACTTCCGACGTGCCTC	0.413																																						ENST00000375300.1																			0				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						c.(499-501)cGg>cCg		SIK family kinase 3							176	156	163					11																	116798051		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116798051C>G	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.326G>C	11.37:g.116798051C>G	ENSP00000292055:p.Arg109Pro					SIK3_ENST00000292055.4_Missense_Mutation_p.R109P|SIK3_ENST00000542607.1_Missense_Mutation_p.R109P|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.R8P|SIK3_ENST00000446921.2_Missense_Mutation_p.R167P	p.R167P			Q9Y2K2	SIK3_HUMAN			4	505	-			109			Protein kinase.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.500G>C	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858564	0.71834	.	.	ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.6	5.6	0.85130	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.37669	U	0.001995	T	0.72843	0.3511	L	0.47078	1.49	0.80722	D	1	D;B;D	0.65815	0.995;0.036;0.989	P;B;P	0.62740	0.899;0.111;0.906	T	0.74805	-0.3540	10	0.87932	D	0	.	10.1168	0.42596	0.0:0.8522:0.0:0.1478	.	109;8;109	A1A5A8;A1A5A9;Q9Y2K2	.;.;SIK3_HUMAN	P	167;109;109;8	ENSP00000364449:R167P;ENSP00000292055:R109P;ENSP00000438108:R109P;ENSP00000415873:R8P	ENSP00000292055:R109P	R	-	2	0	SIK3	116303261	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.387000	0.44389	2.627000	0.88993	0.655000	0.94253	CGG		0.413	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		31	56	0	0	0	1	0	31	56					G	116798051	C	G	116798051	3	3	479	1	0	0	0	0	1	0	0	0	14319	652	23	5	3545	5	SIK3	11	116798051	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	39930036	116798051	18208465	50	32125											
HSPA8	3312	broad.mit.edu	37	chr11	122931348	122931348	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcatctttgtcagaaccaTagaagacacctcctctggat	11	12	6	12	0	4	3	2	0	2	3	5	4	5	4	3	1	1	0	3	1	3	3			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr11:122931348T>C	ENST00000532636.1	-	3	483	c.364A>G	c.(364-366)Atg>Gtg	p.M122V	HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000534319.1_5'Flank|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.M122V|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000534624.1_Missense_Mutation_p.M122V|HSPA8_ENST00000526110.1_Missense_Mutation_p.M122V|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.M122V			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	122					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GTCAGAACCATAGAAGACACC	0.473																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(364-366)Atg>Gtg		heat shock 70kDa protein 8							96	97	97					11																	122931348		2202	4299	6501	SO:0001583	missense	3312				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	g.chr11:122931348T>C	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.364A>G	11.37:g.122931348T>C	ENSP00000437125:p.Met122Val					HSPA8_ENST00000453788.2_Missense_Mutation_p.M122V|HSPA8_ENST00000227378.3_Missense_Mutation_p.M122V|HSPA8_ENST00000526110.1_Missense_Mutation_p.M122V|HSPA8_ENST00000532636.1_Missense_Mutation_p.M122V|HSPA8_ENST00000533540.1_Intron	p.M122V	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	3	640	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	122					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.364A>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.170253	0.57584	.	.	ENSG00000109971	ENST00000532636;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000528292;ENST00000525463;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182;ENST00000524590;ENST00000530391	T;T;T;T;T;T;T;T;T;T;T;T;T	0.04119	3.7;3.7;3.7;3.7;3.7;3.7;3.7;3.7;3.7;3.7;3.7;3.7;3.7	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	H	0.96015	3.755	0.80722	D	1	B;B;B;B	0.18461	0.002;0.001;0.0;0.028	B;B;B;B	0.27796	0.012;0.001;0.001;0.083	T	0.07233	-1.0783	10	0.87932	D	0	-29.9929	14.7676	0.69651	0.0:0.0:0.0:1.0	.	122;122;122;122	B4DTX2;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	V	122;122;122;122;122;62;81;122;122;122;122;122;122	ENSP00000437125:M122V;ENSP00000432083:M122V;ENSP00000404372:M122V;ENSP00000227378:M122V;ENSP00000433584:M122V;ENSP00000432884:M62V;ENSP00000436762:M81V;ENSP00000435154:M122V;ENSP00000431641:M122V;ENSP00000436183:M122V;ENSP00000434415:M122V;ENSP00000434565:M122V;ENSP00000434851:M122V	ENSP00000227378:M122V	M	-	1	0	HSPA8	122436558	1.000000	0.71417	0.927000	0.36925	0.936000	0.57629	8.038000	0.88943	1.937000	0.56155	0.402000	0.26972	ATG		0.473	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			13	66	0	0	0	1	0	13	66					C	122931348	T	C	122931348	3	2	479	1	0	0	0	0	1	0	0	0	7416	1406	49	4	1604	4	HSPA8	11	122931348	Missense_Mutation	SNP	T	TCGA-ZG-A9KY-01A-11D-A41K-08	6133297	122931348	12075168	51	32126											
SOX5	6660	broad.mit.edu	37	chr12	23689453	23689453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccttgtattcaccaatgCgcagctttttgccatccacc	7	14	6	14	1	1	0	1	0	0	0	2	0	2	0	5	0	4	3	5	0	2	6			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr12:23689453C>T	ENST00000451604.2	-	14	2023	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	SOX5_ENST00000541536.1_Missense_Mutation_p.R520H|SOX5_ENST00000309359.1_Missense_Mutation_p.R628H|SOX5_ENST00000546136.1_Missense_Mutation_p.R628H|SOX5_ENST00000545921.1_Missense_Mutation_p.R631H|SOX5_ENST00000396007.2_Missense_Mutation_p.R255H|SOX5_ENST00000381381.2_Missense_Mutation_p.R520H|SOX5_ENST00000537393.1_Missense_Mutation_p.R606H			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	641					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTCACCAATGCGCAGCTTTTT	0.517																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(1882-1884)cGc>cAc		SRY (sex determining region Y)-box 5							114	95	102					12																	23689453		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23689453C>T	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1922G>A	12.37:g.23689453C>T	ENSP00000398273:p.Arg641His					SOX5_ENST00000545921.1_Missense_Mutation_p.R631H|SOX5_ENST00000381381.2_Missense_Mutation_p.R520H|SOX5_ENST00000309359.1_Missense_Mutation_p.R628H|SOX5_ENST00000541536.1_Missense_Mutation_p.R520H|SOX5_ENST00000451604.2_Missense_Mutation_p.R641H|SOX5_ENST00000396007.2_Missense_Mutation_p.R255H|SOX5_ENST00000537393.1_Missense_Mutation_p.R606H	p.R628H			P35711	SOX5_HUMAN			13	1885	-			641					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1883G>A	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	36	5.778357	0.96929	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.79958	0.4536	M	0.84511	2.7	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.97	D;D;P	0.75020	0.984;0.985;0.667	T	0.82216	-0.0567	10	0.87932	D	0	.	19.9823	0.97331	0.0:1.0:0.0:0.0	.	520;641;255	P35711-4;P35711;P35711-3	.;SOX5_HUMAN;.	H	628;628;520;641;606;520;255;631	ENSP00000437487:R628H;ENSP00000308927:R628H;ENSP00000370788:R520H;ENSP00000398273:R641H;ENSP00000439832:R606H;ENSP00000441973:R520H;ENSP00000379328:R255H;ENSP00000443520:R631H	ENSP00000308927:R628H	R	-	2	0	SOX5	23580720	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.763000	0.85283	2.788000	0.95919	0.650000	0.86243	CGC		0.517	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		14	36	0	0	0	1	0	14	36					T	23689453	C	T	23689453	3	4	479	1	0	0	0	0	1	0	0	0	14954	768	27	1	377	1	SOX5	12	23689453	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08		23689453	110162442	52	32127											
PPP2R5C	5527	broad.mit.edu	37	chr14	102391492	102391492	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccaggcacagaaagatccGaagaaggaccgtcctcttgc	12	7	10	12	2	1	3	0	0	1	3	4	5	4	4	4	2	1	1	4	2	3	2			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr14:102391492G>A	ENST00000334743.5	+	14	1506	c.1458G>A	c.(1456-1458)ccG>ccA	p.P486P	PPP2R5C_ENST00000350249.3_Silent_p.P447P|PPP2R5C_ENST00000328724.5_Silent_p.P502P|PPP2R5C_ENST00000422945.2_Silent_p.P517P	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	486					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGAAAGATCCGAAGAAGGACC	0.522																																						ENST00000422945.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1549-1551)ccG>ccA		protein phosphatase 2, regulatory subunit B', gamma							161	175	170					14																	102391492		2203	4300	6503	SO:0001819	synonymous_variant	5527				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:102391492G>A	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9311	protein-coding gene	gene with protein product		601645	"protein phosphatase 2, regulatory subunit B (B56), gamma isoform", "protein phosphatase 2, regulatory subunit B', gamma isoform"			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1458G>A	14.37:g.102391492G>A						PPP2R5C_ENST00000350249.3_Silent_p.P447P|PPP2R5C_ENST00000334743.5_Silent_p.P486P|PPP2R5C_ENST00000328724.5_Silent_p.P502P	p.P517P	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN			16	1647	+			486					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Silent	SNP	ENST00000334743.5	37	c.1551G>A	CCDS9964.1																																																																																				0.522	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		32	135	0	0	0	1	0	32	135					A	102391492	G	A	102391492	2	1	479	1	0	0	0	0	0	0	0	1	12394	1045	37	2		2	PPP2R5C	14	102391492	Silent	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08		102391492	4958048	53	32128											
MAP1A	4130	broad.mit.edu	37	chr15	43821106	43821106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctagtaggaagaggggggCggcgccgggtaggggggcca	7	3	24	7	3	0	1	0	0	0	1	0	2	0	2	2	10	0	3	2	10	4	3			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr15:43821106C>T	ENST00000300231.5	+	4	7885	c.7435C>T	c.(7435-7437)Cgg>Tgg	p.R2479W	MAP1A_ENST00000382031.1_Missense_Mutation_p.R2717W|MAP1A_ENST00000399453.1_Missense_Mutation_p.R2479W			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2479					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.R2479W(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGAGGGGGGCGGCGCCGGGT	0.622																																						ENST00000382031.1																			1	Substitution - Missense(1)	p.R2479W(1)	lung(1)	breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(8149-8151)Cgg>Tgg		microtubule-associated protein 1A	Estramustine(DB01196)						31	34	33					15																	43821106		1865	4072	5937	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43821106C>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7435C>T	15.37:g.43821106C>T	ENSP00000300231:p.Arg2479Trp					MAP1A_ENST00000300231.5_Missense_Mutation_p.R2479W|MAP1A_ENST00000399453.1_Missense_Mutation_p.R2479W	p.R2717W			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	8180	+		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)	2479					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.8149C>T	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.357825	0.01245	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01548	4.78;4.78;4.78	4.9	-0.652	0.11450	.	.	.	.	.	T	0.01320	0.0043	N	0.16656	0.425	0.19775	N	0.999955	B	0.16396	0.017	B	0.12156	0.007	T	0.46707	-0.9172	9	0.36615	T	0.2	-5.3377	6.4782	0.22047	0.5083:0.3535:0.0:0.1382	.	2479	P78559	MAP1A_HUMAN	W	2717;2479;2479	ENSP00000371462:R2717W;ENSP00000382380:R2479W;ENSP00000300231:R2479W	ENSP00000300231:R2479W	R	+	1	2	MAP1A	41608398	0.595000	0.26857	0.011000	0.14972	0.027000	0.11550	0.236000	0.17967	-0.281000	0.09141	-0.379000	0.06801	CGG		0.622	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		18	43	0	0	0	1	0	18	43					T	43821106	C	T	43821106	3	4	479	1	0	0	0	0	1	0	0	0	9227	759	27	1	7437	1	MAP1A	15	43821106	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08		43821106	58710286	54	32129											
RAB8B	51762	broad.mit.edu	37	chr15	63555769	63555769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtggaccagtgaaaataaCagaaaaccgatcaaagaaga	21	4	10	6	1	1	4	1	1	0	3	1	6	1	5	2	2	2	0	2	2	7	1			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr15:63555769C>A	ENST00000321437.4	+	8	731	c.575C>A	c.(574-576)aCa>aAa	p.T192K	RAB8B_ENST00000448330.2_Missense_Mutation_p.T175K	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	192					adherens junction organization (GO:0034332)|antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|positive regulation of cell projection organization (GO:0031346)|positive regulation of corticotropin secretion (GO:0051461)|protein import into peroxisome membrane (GO:0045046)|small GTPase mediated signal transduction (GO:0007264)	cell tip (GO:0051286)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						GTGAAAATAACAGAAAACCGA	0.423																																						ENST00000321437.4																			0				kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(574-576)aCa>aAa		RAB8B, member RAS oncogene family							103	97	99					15																	63555769		2203	4300	6503	SO:0001583	missense	51762				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr15:63555769C>A	AL833365	CCDS10183.1	15q22	2008-11-18			ENSG00000166128	ENSG00000166128		"RAB, member RAS oncogene"	30273	protein-coding gene	gene with protein product		613532				9030196, 18772196	Standard	XM_006720569		Approved		uc002alz.3	Q92930	OTTHUMG00000132862	ENST00000321437.4:c.575C>A	15.37:g.63555769C>A	ENSP00000312734:p.Thr192Lys					RAB8B_ENST00000448330.2_Missense_Mutation_p.T175K	p.T192K	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN			8	731	+			192					Q5JPC4|Q9P293	Missense_Mutation	SNP	ENST00000321437.4	37	c.575C>A	CCDS10183.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698066	0.68386	.	.	ENSG00000166128	ENST00000321437;ENST00000448330	T;T	0.64438	0.1;-0.1	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	N	0.08118	0	0.58432	D	0.999998	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.001	T	0.37361	-0.9709	10	0.10636	T	0.68	.	18.6519	0.91433	0.0:1.0:0.0:0.0	.	175;192	F5GY21;Q92930	.;RAB8B_HUMAN	K	192;175	ENSP00000312734:T192K;ENSP00000405463:T175K	ENSP00000312734:T192K	T	+	2	0	RAB8B	61342822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.190000	0.77755	2.646000	0.89796	0.467000	0.42956	ACA		0.423	RAB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256336.1	NM_016530		4	48	1	0	0.000602214	1	0.000623981	4	48					A	63555769	C	A	63555769	3	1	479	1	0	0	0	0	1	0	0	0	12957	478	17	5	605	5	RAB8B	15	63555769	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	19734663	63555769	38975623	55	32130											
METTL9	51108	broad.mit.edu	37	chr16	21629323	21629323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcacaaaaatcatgagccCtcattttgaagaaatctatg	16	11	6	8	0	4	3	3	2	1	1	4	3	4	3	1	0	1	0	1	0	5	3			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr16:21629323C>T	ENST00000358154.3	+	3	752	c.494C>T	c.(493-495)cCt>cTt	p.P165L	METTL9_ENST00000396014.4_Missense_Mutation_p.P165L	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	165								p.P165H(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		ATCATGAGCCCTCATTTTGAA	0.368																																						ENST00000358154.3																			1	Substitution - Missense(1)	p.P165H(1)	lung(1)	endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7						c.(493-495)cCt>cTt		methyltransferase like 9							100	100	100					16																	21629323		2199	4300	6499	SO:0001583	missense	51108							g.chr16:21629323C>T	NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"DORA reverse strand protein 1"	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.494C>T	16.37:g.21629323C>T	ENSP00000350874:p.Pro165Leu					METTL9_ENST00000396014.4_Missense_Mutation_p.P165L	p.P165L	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN		GBM - Glioblastoma multiforme(48;0.0759)	3	752	+			165					Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Missense_Mutation	SNP	ENST00000358154.3	37	c.494C>T	CCDS10598.2	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368390	0.61513	.	.	ENSG00000197006	ENST00000358154;ENST00000396014;ENST00000540294	.	.	.	6.17	6.17	0.99709	.	0.208164	0.52532	D	0.000079	T	0.66297	0.2775	M	0.74467	2.265	0.80722	D	1	B;B	0.33171	0.4;0.166	B;B	0.33620	0.167;0.038	T	0.65899	-0.6056	9	0.51188	T	0.08	-10.8966	18.3732	0.90420	0.0:1.0:0.0:0.0	.	165;165	Q9H1A3-2;Q9H1A3	.;METL9_HUMAN	L	165;165;129	.	ENSP00000350874:P165L	P	+	2	0	METTL9	21536824	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.729000	0.54999	2.941000	0.99782	0.655000	0.94253	CCT		0.368	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254465.1	NM_016025		31	98	0	0	0	1	0	31	98					T	21629323	C	T	21629323	3	4	479	1	0	0	0	0	1	0	0	0	9508	681	24	3	504	3	METTL9	16	21629323	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08		21629323	68725430	56	32131											
CHP2	63928	broad.mit.edu	37	chr16	23767170	23767170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatttggctttgcagccGcatggatctccagcagatag	10	11	11	9	1	1	2	0	1	1	1	2	3	1	3	2	2	3	4	2	2	2	3	rs147617371	byFrequency	TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr16:23767170G>A	ENST00000300113.2	+	3	566	c.143G>A	c.(142-144)cGc>cAc	p.R48H		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	48	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R48H(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CTTTGCAGCCGCATGGATCTC	0.567													G|||	14	0.00279553	0.0106	0	5008	,	,		16873	0		0	False		,,,				2504	0					ENST00000300113.2																			1	Substitution - Missense(1)	p.R48H(1)	large_intestine(1)	central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9						c.(142-144)cGc>cAc		calcineurin-like EF-hand protein 2		G	HIS/ARG	18,4376	25.3+/-52.1	0,18,2179	41	47	45		143	3.7	1	16	dbSNP_134	45	0,8600		0,0,4300	yes	missense	CHP2	NM_022097.2	29	0,18,6479	AA,AG,GG		0.0,0.4096,0.1385	probably-damaging	48/197	23767170	18,12976	2197	4300	6497	SO:0001583	missense	63928						calcium ion binding	g.chr16:23767170G>A		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"EF-hand domain containing"	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.143G>A	16.37:g.23767170G>A	ENSP00000300113:p.Arg48His						p.R48H	NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0144)	3	566	+			48			EF-hand 1.		A8K2I8	Missense_Mutation	SNP	ENST00000300113.2	37	c.143G>A	CCDS10617.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	16.23	3.065810	0.55539	0.004096	0.0	ENSG00000166869	ENST00000300113	T	0.69561	-0.41	4.65	3.69	0.42338	EF-hand-like domain (1);	0.071753	0.56097	D	0.000035	T	0.60011	0.2236	M	0.77616	2.38	0.52501	D	0.999954	P	0.35774	0.519	B	0.40066	0.318	T	0.63014	-0.6731	10	0.30078	T	0.28	-13.3438	10.6331	0.45549	0.0946:0.0:0.9054:0.0	.	48	O43745	CHP2_HUMAN	H	48	ENSP00000300113:R48H	ENSP00000300113:R48H	R	+	2	0	AC130454.2	23674671	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	3.574000	0.53863	1.311000	0.45024	0.591000	0.81541	CGC		0.567	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097		9	33	0	0	0	1	0	9	33					A	23767170	G	A	23767170	3	1	479	1	0	0	0	0	1	0	0	0	3367	1087	38	1	153	1	CHP2	16	23767170	Missense_Mutation	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	2137847	23767170	66587583	57	32132											
DPEP2	64174	broad.mit.edu	37	chr16	68025823	68025823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taagatggagaggctattgtCcagcgagtggccaccctcta	10	9	12	10	1	1	2	0	0	1	2	2	4	2	2	3	3	1	1	3	3	3	4			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr16:68025823C>T	ENST00000572888.1	-	4	1230	c.580G>A	c.(580-582)Gac>Aac	p.D194N	DPEP2_ENST00000412757.2_Missense_Mutation_p.D194N|DPEP2_ENST00000393847.1_Missense_Mutation_p.D194N			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	194					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			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)		AGGCTATTGTCCAGCGAGTGG	0.567																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(580-582)Gac>Aac		dipeptidase 2							121	104	109					16																	68025823		2198	4300	6498	SO:0001583	missense	64174				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	g.chr16:68025823C>T	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.580G>A	16.37:g.68025823C>T	ENSP00000458977:p.Asp194Asn					DPEP2_ENST00000393847.1_Missense_Mutation_p.D194N|DPEP2_ENST00000572888.1_Missense_Mutation_p.D194N	p.D194N			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	6	1245	-		Ovarian(137;0.192)	194					B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	c.580G>A	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	C	34	5.361784	0.95877	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.23147	1.92;1.92	4.78	4.78	0.61160	.	0.052445	0.64402	D	0.000001	T	0.48822	0.1521	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.993	T	0.38993	-0.9635	10	0.44086	T	0.13	-27.4508	17.0878	0.86615	0.0:1.0:0.0:0.0	.	194;107	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	N	194;194;107	ENSP00000377430:D194N;ENSP00000412549:D194N	ENSP00000314702:D107N	D	-	1	0	DPEP2	66583324	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.390000	0.79816	2.654000	0.90174	0.561000	0.74099	GAC		0.567	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		12	48	0	0	0	1	0	12	48					T	68025823	C	T	68025823	3	4	479	1	0	0	0	0	1	0	0	0	4714	855	30	3	908	3	DPEP2	16	68025823	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	44258653	68025823	22328930	58	32133											
CAMKK1	84254	broad.mit.edu	37	chr17	3786382	3786382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtccagcttcttcaggatgGcaatctcctggtacacccgc	7	10	10	14	1	3	0	1	0	2	0	5	1	4	1	3	4	2	3	3	4	2	3			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr17:3786382G>A	ENST00000348335.2	-	6	750	c.602C>T	c.(601-603)gCc>gTc	p.A201V	CAMKK1_ENST00000381769.2_Missense_Mutation_p.A228V|CAMKK1_ENST00000381771.2_Missense_Mutation_p.A201V|CAMKK1_ENST00000158166.5_Missense_Mutation_p.A201V	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CTTCAGGATGGCAATCTCCTG	0.632																																						ENST00000381771.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(601-603)gCc>gTc		calcium/calmodulin-dependent protein kinase kinase 1, alpha							104	79	87					17																	3786382		2203	4300	6503	SO:0001583	missense	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3786382G>A	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.602C>T	17.37:g.3786382G>A	ENSP00000323118:p.Ala201Val					CAMKK1_ENST00000158166.5_Missense_Mutation_p.A201V|CAMKK1_ENST00000381769.2_Missense_Mutation_p.A228V|CAMKK1_ENST00000348335.2_Missense_Mutation_p.A201V	p.A201V			Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	6	749	-			201			Protein kinase.		Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	37	c.602C>T	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310617	0.95629	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79028	0.4377	L	0.53561	1.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.80627	-0.1298	10	0.87932	D	0	-23.2958	16.7263	0.85422	0.0:0.0:1.0:0.0	.	201;201	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	V	228;201;201;201	ENSP00000371188:A228V;ENSP00000323118:A201V;ENSP00000371190:A201V;ENSP00000158166:A201V	ENSP00000158166:A201V	A	-	2	0	CAMKK1	3733131	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.646000	0.83445	2.553000	0.86117	0.650000	0.86243	GCC		0.632	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		3	47	0	0	0	1	0	3	47					A	3786382	G	A	3786382	3	1	479	1	0	0	0	0	1	0	0	0	2606	1203	42	3	1081	3	CAMKK1	17	3786382	Missense_Mutation	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08		3786382	77408828	59	32134											
CDK12	51755	broad.mit.edu	37	chr17	37627854	37627855	+	Frame_Shift_Ins	INS	-	-	A																															ttgcccccttctactcactcINSaaagacatctgctgtgtcct																										TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr17:37627854_37627855insA	ENST00000447079.4	+	2	1802_1803	c.1769_1770insA	c.(1768-1773)tcaaagfs	p.SK590fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.SK590fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	590					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCTACTCACTCAAAGACATCTG	0.485			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(1768-1770)taafs		cyclin-dependent kinase 12																																				SO:0001589	frameshift_variant	51755				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	g.chr17:37627854_37627855insA	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1772dupA	17.37:g.37627857_37627857dupA	ENSP00000398880:p.Ser590fs	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Frame_Shift_Ins_p.*590fs	p.*590fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			2	1802_1803	+			590					A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Ins	INS	ENST00000447079.4	37	c.1769_1770insA	CCDS11337.1																																																																																				0.485	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		58	120						58	120	---	---	---	---	A	37627855	-	A	37627854	7	5	479	1	0	1	1	0	0	0	0	0	3128	838	29	0	1775	0	CDK12	17	37627854	Frame_Shift_Ins	INS	-	TCGA-ZG-A9KY-01A-11D-A41K-08	33841472	37627854	43567356	60	32135											
CDK12	51755	broad.mit.edu	37	chr17	37646964	37646964	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcaatcacaccacctcagCaaccatataaaaagagacca	19	4	5	13	0	2	1	2	0	0	1	2	2	2	1	4	1	2	2	4	1	6	2			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr17:37646964C>T	ENST00000447079.4	+	3	2119	c.2086C>T	c.(2086-2088)Caa>Taa	p.Q696*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.Q696*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	696					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACCACCTCAGCAACCATATAA	0.448			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(2086-2088)Caa>Taa		cyclin-dependent kinase 12							78	77	77					17																	37646964		2203	4300	6503	SO:0001587	stop_gained	51755				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	g.chr17:37646964C>T	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2086C>T	17.37:g.37646964C>T	ENSP00000398880:p.Gln696*	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Nonsense_Mutation_p.Q696*	p.Q696*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			3	2119	+			696					A7E2B2|B4DYX4|B9EIQ6|O94978	Nonsense_Mutation	SNP	ENST00000447079.4	37	c.2086C>T	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	37	6.475616	0.97598	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	5.06	5.06	0.68205	.	0.000000	0.40144	N	0.001162	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-7.8395	18.0114	0.89225	0.0:1.0:0.0:0.0	.	.	.	.	X	696	.	ENSP00000407720:Q696X	Q	+	1	0	CDK12	34900490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.476000	0.45171	2.369000	0.80426	0.591000	0.81541	CAA		0.448	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		14	22	0	0	0	1	0	14	22					T	37646964	C	T	37646964	4	4	479	1	0	0	0	0	0	1	0	0	3128	711	25	3	2096	3	CDK12	17	37646964	Nonsense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	19110	37646964	43548246	61	32136											
NR1D1	9572	broad.mit.edu	37	chr17	38252187	38252187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaccggagcagggggtggcGaggggcccatggggcctggg	5	3	24	9	2	0	0	0	0	0	0	0	3	0	2	3	10	1	1	3	10	0	0	rs576443916		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr17:38252187G>A	ENST00000246672.3	-	5	1388	c.758C>T	c.(757-759)tCg>tTg	p.S253L		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	253	Crucial for activation of GJA1. {ECO:0000250}.|Hinge.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					AGGGGGTGGCGAGGGGCCCAT	0.662													G|||	1	0.000199681	0	0	5008	,	,		12378	0		0.001	False		,,,				2504	0					ENST00000246672.3																			0				endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11						c.(757-759)tCg>tTg		nuclear receptor subfamily 1, group D, member 1							12	15	14					17																	38252187		2189	4271	6460	SO:0001583	missense	9572				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	g.chr17:38252187G>A	X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"Nuclear hormone receptors"	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.758C>T	17.37:g.38252187G>A	ENSP00000246672:p.Ser253Leu						p.S253L	NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN			5	1388	-	Colorectal(19;0.000442)		253					Q0P5Z4|Q15304	Missense_Mutation	SNP	ENST00000246672.3	37	c.758C>T	CCDS11361.1	.	.	.	.	.	.	.	.	.	.	G	9.711	1.157053	0.21454	.	.	ENSG00000126368	ENST00000246672	D	0.90955	-2.76	4.31	4.31	0.51392	.	0.000000	0.48286	D	0.000196	D	0.86502	0.5948	L	0.47716	1.5	0.31782	N	0.630743	B	0.26602	0.154	B	0.13407	0.009	D	0.84961	0.0877	10	0.30854	T	0.27	.	16.0628	0.80852	0.0:0.0:1.0:0.0	.	253	P20393	NR1D1_HUMAN	L	253	ENSP00000246672:S253L	ENSP00000246672:S253L	S	-	2	0	NR1D1	35505713	1.000000	0.71417	0.947000	0.38551	0.127000	0.20565	4.253000	0.58791	2.388000	0.81334	0.563000	0.77884	TCG		0.662	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1			7	20	0	0	0	1	0	7	20					A	38252187	G	A	38252187	3	1	479	1	0	0	0	0	1	0	0	0	10615	1059	37	2	1102	2	NR1D1	17	38252187	Missense_Mutation	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	605223	38252187	42943023	62	32137											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74621474	74621474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagccggattatcccttcatCgtgtagccgcttccagactt	7	12	8	14	3	1	1	1	0	0	1	4	2	3	2	4	1	2	2	4	1	2	5			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr17:74621474C>T	ENST00000156626.7	-	9	1940	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	581					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						ATCCCTTCATCGTGTAGCCGC	0.532																																						ENST00000156626.7																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1741-1743)Gat>Aat		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							72	59	63					17																	74621474		2203	4300	6503	SO:0001583	missense	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74621474C>T	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1741G>A	17.37:g.74621474C>T	ENSP00000156626:p.Asp581Asn						p.D581N	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN			9	1940	-			581					Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	c.1741G>A	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	C	9.278	1.047441	0.19827	.	.	ENSG00000070526	ENST00000156626	T	0.28666	1.6	5.07	0.604	0.17547	.	0.257660	0.36134	N	0.002767	T	0.27489	0.0675	L	0.50333	1.59	0.36480	D	0.86777	P	0.48294	0.908	P	0.45506	0.483	T	0.22173	-1.0224	10	0.66056	D	0.02	-12.3376	6.497	0.22148	0.0:0.5475:0.2464:0.2061	.	581	Q9NSC7	SIA7A_HUMAN	N	581	ENSP00000156626:D581N	ENSP00000156626:D581N	D	-	1	0	ST6GALNAC1	72133069	0.001000	0.12720	0.009000	0.14445	0.070000	0.16714	0.100000	0.15231	0.235000	0.21160	0.655000	0.94253	GAT		0.532	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		5	41	0	0	0	1	0	5	41					T	74621474	C	T	74621474	3	4	479	1	0	0	0	0	1	0	0	0	15222	884	31	2	65	2	ST6GALNAC1	17	74621474	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	36369287	74621474	6573736	63	32138											
KDM4B	23030	broad.mit.edu	37	chr19	5040011	5040012	+	Frame_Shift_Ins	INS	-	-	A																															gcgagtaccgccgcctggccINSaacagcgagaagtacgcggg																										TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr19:5040011_5040012insA	ENST00000159111.4	+	4	524_525	c.306_307insA	c.(307-309)aacfs	p.N103fs	KDM4B_ENST00000536461.1_Frame_Shift_Ins_p.N103fs|KDM4B_ENST00000381759.4_Frame_Shift_Ins_p.N103fs	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	103					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCCGCCTGGCCAACAGCGAGAA	0.693																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(304-309)gcacagfs		lysine (K)-specific demethylase 4B																																				SO:0001589	frameshift_variant	23030				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	g.chr19:5040011_5040012insA	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.308dupA	19.37:g.5040013_5040013dupA	ENSP00000159111:p.Asn103fs					KDM4B_ENST00000381759.4_Frame_Shift_Ins_p.Q103fs|KDM4B_ENST00000536461.1_Frame_Shift_Ins_p.Q103fs	p.Q103fs	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			4	524_525	+			103					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Frame_Shift_Ins	INS	ENST00000159111.4	37	c.306_307insA	CCDS12138.1																																																																																				0.693	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		13	38						13	38	---	---	---	---	A	5040012	-	A	5040011	7	5	479	1	0	1	1	0	0	0	0	0	8129	581	21	0	312	0	KDM4B	19	5040011	Frame_Shift_Ins	INS	-	TCGA-ZG-A9KY-01A-11D-A41K-08		5040011	54088972	64	32139											
KDM4B	23030	broad.mit.edu	37	chr19	5041160	5041160	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccaggtactgtaccccGcggcaccaggactttgatga	9	9	10	13	2	1	2	1	2	0	0	1	3	1	3	4	3	2	3	4	3	2	4			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr19:5041160G>A	ENST00000159111.4	+	5	548	c.330G>A	c.(328-330)ccG>ccA	p.P110P	KDM4B_ENST00000536461.1_Silent_p.P110P|KDM4B_ENST00000381759.4_Silent_p.P110P	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	110					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ACTGTACCCCGCGGCACCAGG	0.577																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(328-330)ccG>ccA		lysine (K)-specific demethylase 4B							111	99	103					19																	5041160		2203	4300	6503	SO:0001819	synonymous_variant	23030				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	g.chr19:5041160G>A	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.330G>A	19.37:g.5041160G>A						KDM4B_ENST00000536461.1_Silent_p.P110P|KDM4B_ENST00000381759.4_Silent_p.P110P	p.P110P	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			5	548	+			110					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	c.330G>A	CCDS12138.1																																																																																				0.577	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		28	92	0	0	0	1	0	28	92					A	5041160	G	A	5041160	2	1	479	1	0	0	0	0	0	0	0	1	8129	1074	38	1		1	KDM4B	19	5041160	Silent	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	1149	5041160	54087823	65	32140											
DOCK6	57572	broad.mit.edu	37	chr19	11323863	11323863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccactcacgtggccgatctCgaagttctgtcgcatgagca	8	9	10	14	4	3	1	1	1	2	0	5	3	3	1	2	1	1	3	2	1	1	1	rs568049240		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr19:11323863C>T	ENST00000294618.7	-	35	4491	c.4480G>A	c.(4480-4482)Gag>Aag	p.E1494K	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.E833K	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1494					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TGGCCGATCTCGAAGTTCTGT	0.642																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(4480-4482)Gag>Aag		dedicator of cytokinesis 6							51	56	54					19																	11323863		2184	4286	6470	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11323863C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4480G>A	19.37:g.11323863C>T	ENSP00000294618:p.Glu1494Lys					DOCK6_ENST00000319867.7_Missense_Mutation_p.E833K|CTC-510F12.2_ENST00000588634.1_RNA	p.E1494K	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			35	4491	-			1494			DHR-2.		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.4480G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584017	0.86748	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.01902	4.57;4.57	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.08044	0.0201	M	0.79805	2.47	0.80722	D	1	P;P	0.52463	0.953;0.807	P;B	0.47744	0.556;0.265	T	0.02966	-1.1088	10	0.62326	D	0.03	-28.9554	17.1473	0.86769	0.0:1.0:0.0:0.0	.	833;1494	C9IZV6;Q96HP0	.;DOCK6_HUMAN	K	1494;833	ENSP00000294618:E1494K;ENSP00000321556:E833K	ENSP00000294618:E1494K	E	-	1	0	DOCK6	11184863	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.689000	0.84165	2.350000	0.79820	0.650000	0.86243	GAG		0.642	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		8	29	0	0	0	1	0	8	29					T	11323863	C	T	11323863	3	4	479	1	0	0	0	0	1	0	0	0	4691	893	31	2	1719	2	DOCK6	19	11323863	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	6282703	11323863	47805120	66	32141											
ZNF492	57615	broad.mit.edu	37	chr19	22846975	22846975	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatagtggagagaaaccCtacaaatgtaaagaatgtgg	17	9	10	5	0	1	2	1	0	0	2	1	4	1	3	1	2	2	1	1	2	7	4			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr19:22846975C>A	ENST00000456783.2	+	4	748	c.504C>A	c.(502-504)ccC>ccA	p.P168P	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GAGAGAAACCCTACAAATGTA	0.338																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(502-504)ccC>ccA		zinc finger protein 492							19	25	23					19																	22846975		2009	4223	6232	SO:0001819	synonymous_variant	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22846975C>A	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.504C>A	19.37:g.22846975C>A							p.P168P	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	748	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	168					Q08EI7|Q08EI8	Silent	SNP	ENST00000456783.2	37	c.504C>A	CCDS46032.1																																																																																				0.338	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		4	12	1	0	0.014758	1	0.0151094	4	12					A	22846975	C	A	22846975	2	1	479	1	0	0	0	0	0	0	0	1	17940	668	24	5		5	ZNF492	19	22846975	Silent	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	11523112	22846975	36282008	67	32142											
CEACAM7	1087	broad.mit.edu	37	chr19	42187837	42187837	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgagggtcctgttgtcagtGgagagcagcagcctgggact	8	8	16	9	1	1	1	1	0	0	1	2	4	2	2	2	3	3	3	2	3	0	1			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr19:42187837G>A	ENST00000006724.3	-	3	786	c.585C>T	c.(583-585)tcC>tcT	p.S195S	CEACAM7_ENST00000599715.1_5'Flank|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000401731.1_Silent_p.S195S|CEACAM7_ENST00000338196.4_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	195	Ig-like C2-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGTTGTCAGTGGAGAGCAGCA	0.512																																						ENST00000006724.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(583-585)tcC>tcT		carcinoembryonic antigen-related cell adhesion molecule 7							167	157	160					19																	42187837		2203	4300	6503	SO:0001819	synonymous_variant	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42187837G>A	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1819	protein-coding gene	gene with protein product	"carcinoembryonic antigen gene family member 2"			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.585C>T	19.37:g.42187837G>A						CEACAM7_ENST00000401731.1_Silent_p.S195S|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron	p.S195S	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	3	786	-			195			Ig-like C2-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Silent	SNP	ENST00000006724.3	37	c.585C>T	CCDS12583.1																																																																																				0.512	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		41	76	0	0	0	1	0	41	76					A	42187837	G	A	42187837	2	1	479	1	0	0	0	0	0	0	0	1	3197	1335	47	3		3	CEACAM7	19	42187837	Silent	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	19340862	42187837	16941146	68	32143											
CPT1C	126129	broad.mit.edu	37	chr19	50214009	50214009	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattctgcctgacttatgaGtcggccatgactcgcttatt	8	14	8	11	2	1	3	0	3	1	0	3	3	1	3	2	1	1	1	2	1	3	4			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr19:50214009G>A	ENST00000392518.4	+	16	2133	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	CPT1C_ENST00000354199.5_Silent_p.E587E|CPT1C_ENST00000405931.2_Silent_p.E576E|CPT1C_ENST00000323446.5_Silent_p.E587E|CPT1C_ENST00000598293.1_Silent_p.E587E	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	587					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TGACTTATGAGTCGGCCATGA	0.567																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1759-1761)gaG>gaA		carnitine palmitoyltransferase 1C							53	50	51					19																	50214009		2203	4300	6503	SO:0001819	synonymous_variant	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50214009G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1761G>A	19.37:g.50214009G>A						CPT1C_ENST00000323446.5_Silent_p.E587E|CPT1C_ENST00000598293.1_Silent_p.E587E|CPT1C_ENST00000354199.5_Silent_p.E587E|CPT1C_ENST00000405931.2_Silent_p.E576E	p.E587E	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	16	2133	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	587					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Silent	SNP	ENST00000392518.4	37	c.1761G>A	CCDS12779.1																																																																																				0.567	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		18	47	0	0	0	1	0	18	47					A	50214009	G	A	50214009	2	1	479	1	0	0	0	0	0	0	0	1	3833	1020	36	3		3	CPT1C	19	50214009	Silent	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	8026172	50214009	8914974	69	32144											
FPR1	2357	broad.mit.edu	37	chr19	52249967	52249967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgaatttgcacaggaaccagCcgaaaggccaatgtcctccc	12	6	9	14	2	0	0	0	0	0	0	2	3	2	1	5	2	3	1	5	2	4	1			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr19:52249967C>T	ENST00000595042.1	-	3	422	c.281G>A	c.(280-282)gGc>gAc	p.G94D	FPR1_ENST00000304748.4_Missense_Mutation_p.G94D	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	94					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			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)	CAGGAACCAGCCGAAAGGCCA	0.517																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(280-282)gGc>gAc		formyl peptide receptor 1	Nedocromil(DB00716)						139	106	117					19																	52249967		2203	4300	6503	SO:0001583	missense	2357				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	g.chr19:52249967C>T	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"GPCR / Class A : Formyl peptide receptors"	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.281G>A	19.37:g.52249967C>T	ENSP00000471493:p.Gly94Asp					FPR1_ENST00000304748.4_Missense_Mutation_p.G94D	p.G94D	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	422	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	94					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.281G>A	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	15.95	2.984775	0.53934	.	.	ENSG00000171051	ENST00000304748	T	0.49720	0.77	3.66	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.75627	0.3875	H	0.94771	3.58	0.51012	D	0.999903	D	0.89917	1.0	D	0.91635	0.999	D	0.83443	0.0044	10	0.87932	D	0	.	13.6424	0.62260	0.0:1.0:0.0:0.0	.	94	P21462	FPR1_HUMAN	D	94	ENSP00000302707:G94D	ENSP00000302707:G94D	G	-	2	0	FPR1	56941779	1.000000	0.71417	0.916000	0.36221	0.075000	0.17131	7.043000	0.76572	1.960000	0.56953	0.655000	0.94253	GGC		0.517	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		21	33	0	0	0	1	0	21	33					T	52249967	C	T	52249967	3	4	479	1	0	0	0	0	1	0	0	0	6038	739	26	3	775	3	FPR1	19	52249967	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	2035958	52249967	6879016	70	32145											
CACNG7	59284	broad.mit.edu	37	chr19	54445483	54445483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgtgtccatccaaatgaCgcagaactaccctcccgcca	11	6	7	17	4	0	2	0	1	0	1	3	3	3	2	5	0	2	1	5	0	3	1			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr19:54445483C>T	ENST00000391767.1	+	6	976	c.764C>T	c.(763-765)aCg>aTg	p.T255M	CACNG7_ENST00000222212.2_Missense_Mutation_p.T255M			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	255				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). {ECO:0000305}.	calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		ATCCAAATGACGCAGAACTAC	0.687																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(763-765)aCg>aTg		calcium channel, voltage-dependent, gamma subunit 7							137	145	142					19																	54445483		2203	4300	6503	SO:0001583	missense	59284				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	g.chr19:54445483C>T	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"Calcium channel subunits"	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.764C>T	19.37:g.54445483C>T	ENSP00000375647:p.Thr255Met					CACNG7_ENST00000222212.2_Missense_Mutation_p.T255M	p.T255M			P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	6	976	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		255	GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).				Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.764C>T	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022477	0.75275	.	.	ENSG00000105605	ENST00000391767;ENST00000222212	T;T	0.64618	-0.11;-0.11	3.89	3.89	0.44902	.	0.064498	0.64402	D	0.000014	T	0.50820	0.1638	N	0.14661	0.345	0.80722	D	1	D	0.63880	0.993	P	0.47981	0.563	T	0.59268	-0.7486	10	0.59425	D	0.04	-16.0931	13.7553	0.62933	0.0:1.0:0.0:0.0	.	255	P62955	CCG7_HUMAN	M	255	ENSP00000375647:T255M;ENSP00000222212:T255M	ENSP00000222212:T255M	T	+	2	0	CACNG7	59137295	0.987000	0.35691	1.000000	0.80357	0.985000	0.73830	1.763000	0.38461	1.900000	0.55004	0.491000	0.48974	ACG		0.687	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			19	162	0	0	0	1	0	19	162					T	54445483	C	T	54445483	3	4	479	1	0	0	0	0	1	0	0	0	2562	536	19	1	782	1	CACNG7	19	54445483	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	2195516	54445483	4683500	71	32146											
DDRGK1	65992	broad.mit.edu	37	chr20	3175950	3175950	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagtttcaggtactccTcatgctcccgctgggcctgc	4	12	9	16	1	3	0	3	0	0	0	5	0	5	0	4	2	3	4	4	2	1	3			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr20:3175950T>G	ENST00000354488.3	-	5	617	c.560A>C	c.(559-561)gAg>gCg	p.E187A	DDRGK1_ENST00000380201.2_Missense_Mutation_p.E187A	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	187						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CAGGTACTCCTCATGCTCCCG	0.627																																						ENST00000354488.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						c.(559-561)gAg>gCg		DDRGK domain containing 1							144	118	127					20																	3175950		2203	4300	6503	SO:0001583	missense	65992					endoplasmic reticulum	protein binding	g.chr20:3175950T>G	AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"Dashurin"		"chromosome 20 open reading frame 116"	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.560A>C	20.37:g.3175950T>G	ENSP00000346483:p.Glu187Ala					DDRGK1_ENST00000380201.2_Missense_Mutation_p.E187A	p.E187A	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN			5	617	-			187					A6NIU5|C9JSZ5|Q9BW47	Missense_Mutation	SNP	ENST00000354488.3	37	c.560A>C	CCDS13050.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389169	0.82902	.	.	ENSG00000198171	ENST00000354488;ENST00000380213;ENST00000380201	T	0.55588	0.51	4.48	4.48	0.54585	.	0.053754	0.64402	D	0.000001	T	0.70771	0.3262	M	0.77820	2.39	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.79784	0.993;0.992	T	0.75031	-0.3461	10	0.87932	D	0	-5.0282	11.7517	0.51852	0.0:0.0:0.0:1.0	.	187;187	Q96HY6-2;Q96HY6	.;DDRGK_HUMAN	A	187	ENSP00000346483:E187A	ENSP00000346483:E187A	E	-	2	0	DDRGK1	3123950	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.571000	0.74000	1.874000	0.54306	0.460000	0.39030	GAG		0.627	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077709.2	NM_023935		13	53	0	0	0	1	0	13	53					G	3175950	T	G	3175950	3	3	479	1	0	0	0	0	1	0	0	0	4338	1551	54	5	404	5	DDRGK1	20	3175950	Missense_Mutation	SNP	T	TCGA-ZG-A9KY-01A-11D-A41K-08		3175950	59849570	72	32147											
C20orf94	128710	broad.mit.edu	37	chr20	10603340	10603340	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaacaaaaagcagtgtcacGagcaaatcgcagaccagaag	19	3	10	9	2	1	2	1	0	0	2	2	4	1	2	1	0	3	3	1	0	5	0	rs375752597		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr20:10603340G>A	ENST00000334534.5	+	8	720	c.540G>A	c.(538-540)acG>acA	p.T180T		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	180																	GCAGTGTCACGAGCAAATCGC	0.433																																						ENST00000334534.5																			0											c.(538-540)acG>acA		SLX4 interacting protein		G		1,4405	2.1+/-5.4	0,1,2202	64	57	59		540	3.8	0.2	20		59	0,8600		0,0,4300	no	coding-synonymous	C20orf94	NM_001009608.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		180/409	10603340	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128710							g.chr20:10603340G>A	AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"chromosome 20 open reading frame 94"	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.540G>A	20.37:g.10603340G>A							p.T180T	NM_001009608.1	NP_001009608.1					8	720	+								Q05CG2|Q05CT9	Silent	SNP	ENST00000334534.5	37	c.540G>A	CCDS33439.1																																																																																				0.433	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3	NM_001009608		15	41	0	0	0	1	0	15	41					A	10603340	G	A	10603340	2	1	479	1	0	0	0	0	0	0	0	1	2121	1045	37	2		2	C20orf94	20	10603340	Silent	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	7427390	10603340	52422180	73	32148											
TRAPPC10	7109	broad.mit.edu	37	chr21	45502929	45502929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaactttccacccgagaccGcacctttccctgtatcccaa	9	11	4	17	2	0	1	0	0	0	1	3	2	3	1	6	0	1	2	6	0	3	4	rs149129671	byFrequency	TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr21:45502929G>A	ENST00000291574.4	+	14	2159	c.1984G>A	c.(1984-1986)Gca>Aca	p.A662T		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	662					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			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						ACCCGAGACCGCACCTTTCCC	0.483													G|||	2	0.000399361	0	0	5008	,	,		22405	0		0.002	False		,,,				2504	0					ENST00000291574.4																			0				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						c.(1984-1986)Gca>Aca		trafficking protein particle complex 10		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	138	134	136		1984	-1.2	0	21	dbSNP_134	136	5,8595	4.3+/-15.6	0,5,4295	yes	missense	TRAPPC10	NM_003274.4	58	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	benign	662/1260	45502929	6,13000	2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45502929G>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.1984G>A	21.37:g.45502929G>A	ENSP00000291574:p.Ala662Thr						p.A662T	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			14	2159	+			662					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.1984G>A	CCDS13704.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	2.241	-0.373840	0.05034	2.27E-4	5.81E-4	ENSG00000160218	ENST00000291574	T	0.23348	1.91	5.58	-1.25	0.09405	.	0.740441	0.12965	N	0.424635	T	0.09468	0.0233	N	0.08118	0	0.09310	N	1	B	0.25486	0.127	B	0.19148	0.024	T	0.37641	-0.9697	10	0.12766	T	0.61	.	6.9167	0.24363	0.1016:0.0743:0.5992:0.2249	.	662	P48553	TPC10_HUMAN	T	662	ENSP00000291574:A662T	ENSP00000291574:A662T	A	+	1	0	TRAPPC10	44327357	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.426000	0.07008	-0.470000	0.06901	-0.976000	0.02587	GCA		0.483	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		4	97	0	0	0	1	0	4	97					A	45502929	G	A	45502929	3	1	479	1	0	0	0	0	1	0	0	0	16454	1087	38	1	2038	1	TRAPPC10	21	45502929	Missense_Mutation	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08		45502929	2626966	74	32149											
PI4KA	5297	broad.mit.edu	37	chr22	21156286	21156286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgttgtcaatagcgatgtCtcggagctgctcgtacatgg	8	12	13	8	3	2	0	1	0	1	0	4	3	2	1	0	2	4	4	0	2	3	3			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr22:21156286C>T	ENST00000572273.1	-	14	1755	c.1525G>A	c.(1525-1527)Gac>Aac	p.D509N	PI4KA_ENST00000255882.6_Missense_Mutation_p.D567N			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	509					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			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)			ATAGCGATGTCTCGGAGCTGC	0.483																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				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						c.(1699-1701)Gac>Aac		phosphatidylinositol 4-kinase, catalytic, alpha							130	102	112					22																	21156286		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21156286C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.1525G>A	22.37:g.21156286C>T	ENSP00000458238:p.Asp509Asn					PI4KA_ENST00000572273.1_Missense_Mutation_p.D509N	p.D567N	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		14	1785	-	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)	509					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.1699G>A		.	.	.	.	.	.	.	.	.	.	C	26.2	4.719601	0.89205	.	.	ENSG00000241973	ENST00000255882	T	0.47177	0.85	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	L	0.44542	1.39	0.80722	D	1	P;P	0.41929	0.708;0.765	B;B	0.38985	0.227;0.287	T	0.26052	-1.0114	10	0.22109	T	0.4	-30.2689	17.7793	0.88518	0.0:1.0:0.0:0.0	.	567;509	D3DX33;P42356	.;PI4KA_HUMAN	N	509	ENSP00000255882:D509N	ENSP00000255882:D509N	D	-	1	0	PI4KA	19486286	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	7.651000	0.83577	2.440000	0.82611	0.491000	0.48974	GAC		0.483	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		25	78	0	0	0	1	0	25	78					T	21156286	C	T	21156286	3	4	479	1	0	0	0	0	1	0	0	0	11873	913	32	3	4777	3	PI4KA	22	21156286	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08		21156286	30148280	75	32150											
RASL10A	10633	broad.mit.edu	37	chr22	29709922	29709922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctgcagatgtcgtagaCgagcacgaaggcgtccgtgt	8	7	16	10	6	0	2	0	0	0	2	2	4	1	2	1	2	2	4	1	2	2	1			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr22:29709922C>T	ENST00000216101.6	-	2	783	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	RASL10A_ENST00000401450.3_Missense_Mutation_p.V92I|AC002059.10_ENST00000608014.1_RNA|RASL10A_ENST00000608559.1_5'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A	92	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						ATGTCGTAGACGAGCACGAAG	0.642																																						ENST00000401450.3																			0				NS(1)	1						c.(274-276)Gtc>Atc		RAS-like, family 10, member A							71	67	69					22																	29709922		2203	4300	6503	SO:0001583	missense	10633				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr22:29709922C>T	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106	ENST00000216101.6:c.274G>A	22.37:g.29709922C>T	ENSP00000216101:p.Val92Ile					RASL10A_ENST00000216101.6_Missense_Mutation_p.V92I|RASL10A_ENST00000474590.1_5'UTR	p.V92I			Q92737	RSLAA_HUMAN			2	719	-			92			Small GTPase-like.		Q49AU5|Q6PI03	Missense_Mutation	SNP	ENST00000216101.6	37	c.274G>A	CCDS13854.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189403	0.94923	.	.	ENSG00000100276	ENST00000401450;ENST00000216101	T;D	0.86769	-0.74;-2.17	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.92779	0.7704	M	0.82716	2.605	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	D	0.93788	0.7090	10	0.72032	D	0.01	.	13.6366	0.62225	0.0:1.0:0.0:0.0	.	92	Q92737	RSLAA_HUMAN	I	92	ENSP00000386095:V92I;ENSP00000216101:V92I	ENSP00000216101:V92I	V	-	1	0	RASL10A	28039922	1.000000	0.71417	0.849000	0.33467	0.906000	0.53458	7.343000	0.79319	1.774000	0.52232	0.462000	0.41574	GTC		0.642	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			10	24	0	0	0	1	0	10	24					T	29709922	C	T	29709922	3	4	479	1	0	0	0	0	1	0	0	0	13079	536	19	1	349	1	RASL10A	22	29709922	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	8553636	29709922	21594644	76	32151											
SGSM3	57591	broad.mit.edu	37	chr22	40803533	40803533	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggactttgagcggcacgaCgacgacgagctgggcttccg	7	7	15	12	6	0	1	0	1	0	0	1	6	1	2	1	3	2	3	1	3	0	2	rs368931720		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr22:40803533C>T	ENST00000355630.3	-	0	4496				SGSM3_ENST00000454798.2_Silent_p.D428D|SGSM3_ENST00000248929.9_Silent_p.D495D	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			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						AGCGGCACGACGACGACGAGC	0.657			T	RBM15	acute megakaryocytic leukemia																																	ENST00000248929.9				Dom	yes		22	22q13	57591		megakaryoblastic leukemia (translocation) 1			L					0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(1483-1485)gaC>gaT		small G protein signaling modulator 3		C		0,4406		0,0,2203	37	33	34		1485	-6.2	0.1	22		34	1,8599		0,1,4299	no	coding-synonymous	SGSM3	NM_015705.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		495/750	40803533	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40803533C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40803533C>T						SGSM3_ENST00000454798.2_Silent_p.D428D	p.D495D	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			13	1674	+			495			SH3.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.1485C>T	CCDS14003.1																																																																																				0.657	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		3	30	0	0	0	1	0	3	30					T	40803533	C	T	40803533	1	4	479	0	1	0	0	0	0	0	0	0	14224	535	19	1		1	SGSM3	22	40803533	IGR	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	11093611	40803533	10501033	77	32152											
CERK	64781	broad.mit.edu	37	chr22	47085927	47085927	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcaggacctccccgtcGcagttccaggagctgttgga	6	9	13	13	2	0	0	0	0	0	0	3	3	2	3	4	3	2	5	4	3	0	2	rs375210247		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr22:47085927G>A	ENST00000216264.8	-	12	1615	c.1503C>T	c.(1501-1503)tgC>tgT	p.C501C	CERK_ENST00000471929.1_5'Flank|CERK_ENST00000541677.1_Silent_p.C303C	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	501					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			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)		CCTCCCCGTCGCAGTTCCAGG	0.647													G|||	1	0.000199681	8e-04	0	5008	,	,		14484	0		0	False		,,,				2504	0					ENST00000216264.8																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(1501-1503)tgC>tgT		ceramide kinase		G		1,4405	2.1+/-5.4	0,1,2202	44	36	39		1503	-4.6	1	22		39	0,8600		0,0,4300	no	coding-synonymous	CERK	NM_022766.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		501/538	47085927	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64781				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	g.chr22:47085927G>A	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1503C>T	22.37:g.47085927G>A						CERK_ENST00000541677.1_Silent_p.C303C	p.C501C	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	12	1615	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	501					A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Silent	SNP	ENST00000216264.8	37	c.1503C>T	CCDS14077.1																																																																																				0.647	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		14	14	0	0	0	1	0	14	14					A	47085927	G	A	47085927	2	1	479	1	0	0	0	0	0	0	0	1	3267	1079	38	1		1	CERK	22	47085927	Silent	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	6282394	47085927	4218639	78	32153											
SHROOM4	57477	broad.mit.edu	37	chrX	50345633	50345634	+	Splice_Site	INS	-	-	T																															acacatcaaaaaactttaccINStttttttgagccagttcatg																										TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chrX:50345633_50345634insT	ENST00000289292.7	-	7	4224_4225	c.3941_3942insA	c.(3940-3942)aag>aaAg	p.K1314fs	SHROOM4_ENST00000460112.3_Splice_Site_p.K1198fs|SHROOM4_ENST00000376020.2_Splice_Site_p.K1314fs			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1314	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.K1314fs*23(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AAAACTTTACCTTTTTTTGAGC	0.45																																						ENST00000376020.2																			1	Deletion - Frameshift(1)	p.K1314fs*23(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.e7+1		shroom family member 4																																				SO:0001630	splice_region_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50345633_50345634insT	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3942+1->A	X.37:g.50345640_50345640dupT						SHROOM4_ENST00000460112.3_Splice_Site_p.N1198_splice|SHROOM4_ENST00000289292.7_Splice_Site_p.N1314_splice	p.N1314_splice	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			7	3966_3967	-	Ovarian(276;0.236)		1314			ASD2.		A7E2X9|D6RFW0|Q96LA0	Splice_Site	INS	ENST00000289292.7	37	c.3942_splice	CCDS35277.1																																																																																				0.45	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717	Frame_Shift_Ins	32	23						32	23	---	---	---	---	T	50345634	-	T	50345633	8	5	479	1	0	1	1	0	0	0	1	0	14296	695	24	0	551	0	SHROOM4	23	50345633	Splice_Site	INS	-	TCGA-ZG-A9KY-01A-11D-A41K-08		50345633	104924927	79	32154											
DOCK11	139818	broad.mit.edu	37	chrX	117805041	117805041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcttatggaaggcagaacGttatgaaataatttctgaga	14	12	11	4	1	1	3	0	2	1	2	1	5	1	4	0	3	1	3	0	3	6	4	rs201193128		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chrX:117805041G>A	ENST00000276202.7	+	46	5195	c.5132G>A	c.(5131-5133)cGt>cAt	p.R1711H	DOCK11_ENST00000276204.6_Missense_Mutation_p.R1711H	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1711	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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						AAGGCAGAACGTTATGAAATA	0.348																																						ENST00000276204.6																			0				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						c.(5131-5133)cGt>cAt		dedicator of cytokinesis 11		G	HIS/ARG	0,3835		0,0,1632,571	125	111	116		5132	5.2	1	X		116	4,6724		0,4,2424,1872	no	missense	DOCK11	NM_144658.3	29	0,4,4056,2443	AA,AG,GG,G		0.0595,0.0,0.0379	probably-damaging	1711/2074	117805041	4,10559	2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117805041G>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5132G>A	X.37:g.117805041G>A	ENSP00000276202:p.Arg1711His					DOCK11_ENST00000276202.7_Missense_Mutation_p.R1711H	p.R1711H			Q5JSL3	DOC11_HUMAN			46	5206	+			1711			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.5132G>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545258	0.86022	0.0	5.95E-4	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.19250	2.16;2.16	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.88241	2.94	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58205	-0.7677	10	0.59425	D	0.04	-13.0903	12.153	0.54059	0.0:0.0:0.8294:0.1706	.	1711;1711	A6NIW2;Q5JSL3	.;DOC11_HUMAN	H	1711	ENSP00000276204:R1711H;ENSP00000276202:R1711H	ENSP00000276202:R1711H	R	+	2	0	DOCK11	117689069	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.464000	0.97655	2.309000	0.77851	0.594000	0.82650	CGT		0.348	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		24	14	0	0	0	1	0	24	14					A	117805041	G	A	117805041	3	1	479	1	0	0	0	0	1	0	0	0	4686	1145	40	1	5314	1	DOCK11	23	117805041	Missense_Mutation	SNP	G	TCGA-ZG-A9KY-01A-11D-A41K-08	67459408	117805041	37465519	80	32155											
AFF2	2334	broad.mit.edu	37	chrX	147744151	147744151	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggaccaggcaccggacatCtcaccaacactgaaaccttc	13	5	7	16	1	1	1	1	1	1	0	3	3	1	3	4	3	2	1	4	3	2	1			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chrX:147744151C>G	ENST00000370460.2	+	3	1382	c.903C>G	c.(901-903)atC>atG	p.I301M	AFF2_ENST00000370457.5_Missense_Mutation_p.I297M|AFF2_ENST00000342251.3_Missense_Mutation_p.I297M|AFF2_ENST00000370458.1_Missense_Mutation_p.I297M	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	301					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			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)					CACCGGACATCTCACCAACAC	0.483																																						ENST00000370460.2																			0				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						c.(901-903)atC>atG		AF4/FMR2 family, member 2							94	86	89					X																	147744151		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147744151C>G	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.903C>G	X.37:g.147744151C>G	ENSP00000359489:p.Ile301Met					AFF2_ENST00000342251.3_Missense_Mutation_p.I297M|AFF2_ENST00000370457.5_Missense_Mutation_p.I297M|AFF2_ENST00000370458.1_Missense_Mutation_p.I297M	p.I301M	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			3	1382	+	Acute lymphoblastic leukemia(192;6.56e-05)		301					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.903C>G	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786792	0.31593	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.92	3.91	0.45181	.	0.157502	0.52532	D	0.000073	T	0.53530	0.1802	N	0.20986	0.625	0.80722	D	1	B;B;B;B;B;P	0.37207	0.374;0.374;0.374;0.374;0.427;0.587	B;B;B;B;P;B	0.45998	0.366;0.366;0.366;0.366;0.5;0.309	T	0.50372	-0.8836	10	0.48119	T	0.1	.	8.4924	0.33108	0.1444:0.7582:0.0:0.0974	.	301;297;297;297;301;297	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	M	301;297;297;297	ENSP00000359489:I301M;ENSP00000359486:I297M;ENSP00000345459:I297M;ENSP00000359487:I297M	ENSP00000345459:I297M	I	+	3	3	AFF2	147551843	1.000000	0.71417	0.998000	0.56505	0.542000	0.35054	1.688000	0.37690	0.439000	0.26476	0.600000	0.82982	ATC		0.483	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		37	10	0	0	0	1	0	37	10					G	147744151	C	G	147744151	3	3	479	1	0	0	0	0	1	0	0	0	357	903	32	5	913	5	AFF2	23	147744151	Missense_Mutation	SNP	C	TCGA-ZG-A9KY-01A-11D-A41K-08	29939110	147744151	7526409	81	32156											
EIF4G3	8672	broad.mit.edu	37	chr1	21188821	21188821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattaaagtactggtccataCgtggctgcaagagacaaaat	15	9	10	7	1	0	1	0	0	0	1	1	3	1	1	1	2	3	3	1	2	7	3			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr1:21188821C>T	ENST00000264211.8	-	17	3037	c.2843G>A	c.(2842-2844)cGt>cAt	p.R948H	EIF4G3_ENST00000602326.1_Missense_Mutation_p.R954H|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R948H|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R438H|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R668H|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R954H|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R552H	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	948	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			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)		CTGGTCCATACGTGGCTGCAA	0.328																																						ENST00000602326.1																			0				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						c.(2860-2862)cGt>cAt		eukaryotic translation initiation factor 4 gamma, 3							103	100	101					1																	21188821		2203	4300	6503	SO:0001583	missense	8672				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	g.chr1:21188821C>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2843G>A	1.37:g.21188821C>T	ENSP00000264211:p.Arg948His					EIF4G3_ENST00000400422.1_Missense_Mutation_p.R948H|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R552H|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R668H|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R954H|EIF4G3_ENST00000264211.8_Missense_Mutation_p.R948H|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R438H	p.R954H	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		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)	21	3444	-		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)	948			MIF4G.|eIF3/EIF4A-binding (By similarity).		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.2861G>A	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395256	0.96009	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88	5.56	5.56	0.83823	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.054675	0.85682	D	0.000000	T	0.46756	0.1409	L	0.45285	1.41	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.979	D;D;D;D;P	0.97110	1.0;0.982;0.95;0.999;0.65	T	0.38757	-0.9646	10	0.72032	D	0.01	-9.0504	19.5448	0.95287	0.0:1.0:0.0:0.0	.	1143;668;552;954;948	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	H	948;1144;948;668;438;954;552	ENSP00000264211:R948H;ENSP00000383274:R948H;ENSP00000364071:R668H;ENSP00000442010:R438H;ENSP00000364073:R954H;ENSP00000444693:R552H	ENSP00000264211:R948H	R	-	2	0	EIF4G3	21061408	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.814000	0.86154	2.613000	0.88420	0.650000	0.86243	CGT		0.328	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		16	47	0	0	0	1	0	16	47					T	21188821	C	T	21188821	3	4	480	1	0	0	0	0	1	0	0	0	5038	536	19	1	1974	1	EIF4G3	1	21188821	Missense_Mutation	SNP	C	TCGA-ZG-A9L0-01A-11D-A41K-08		21188821	228061800	1	32157											
PRDX1	5052	broad.mit.edu	37	chr1	45980652	45980652	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcccagtcctccttgtttCttaggtgtattgaccctatg	5	16	9	11	0	1	1	0	1	1	0	4	1	4	1	4	2	0	2	4	2	3	6			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr1:45980652C>G	ENST00000262746.1	-	4	615	c.276G>C	c.(274-276)aaG>aaC	p.K92N	PRDX1_ENST00000319248.8_Missense_Mutation_p.K92N|PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000483583.1_5'Flank	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	92	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					CTCCTTGTTTCTTAGGTGTAT	0.448																																						ENST00000262746.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12						c.(274-276)aaG>aaC		peroxiredoxin 1							222	207	212					1																	45980652		2203	4300	6503	SO:0001583	missense	5052				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity	g.chr1:45980652C>G	BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.276G>C	1.37:g.45980652C>G	ENSP00000262746:p.Lys92Asn					PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000319248.8_Missense_Mutation_p.K92N	p.K92N	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN			4	615	-	Acute lymphoblastic leukemia(166;0.155)		92			Thioredoxin.		B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Missense_Mutation	SNP	ENST00000262746.1	37	c.276G>C	CCDS522.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727751	0.48833	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000447184;ENST00000424390	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	6.03	4.14	0.48551	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.098604	0.64402	D	0.000004	T	0.24967	0.0606	L	0.39692	1.235	0.47407	D	0.999411	B	0.16396	0.017	B	0.19666	0.026	T	0.09079	-1.0691	10	0.87932	D	0	-9.2721	8.5478	0.33433	0.0:0.7406:0.125:0.1344	.	92	Q06830	PRDX1_HUMAN	N	92	ENSP00000262746:K92N;ENSP00000361152:K92N;ENSP00000407034:K92N;ENSP00000389047:K92N	ENSP00000262746:K92N	K	-	3	2	PRDX1	45753239	0.998000	0.40836	1.000000	0.80357	0.970000	0.65996	0.578000	0.23773	1.547000	0.49401	0.655000	0.94253	AAG		0.448	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020845.1	NM_181697		53	108	0	0	0	1	0	53	108					G	45980652	C	G	45980652	3	3	480	1	0	0	0	0	1	0	0	0	12464	912	32	5	335	5	PRDX1	1	45980652	Missense_Mutation	SNP	C	TCGA-ZG-A9L0-01A-11D-A41K-08	24791831	45980652	203269969	2	32158											
C1orf53	388722	broad.mit.edu	37	chr1	197876315	197876315	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaatgttaaagatccatctAaaaagaagcaattcaattca	19	11	4	7	0	4	2	3	0	1	2	5	2	5	2	1	0	1	2	1	0	9	4			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr1:197876315A>C	ENST00000367393.3	+	3	406	c.403A>C	c.(403-405)Aaa>Caa	p.K135Q	C1orf53_ENST00000542800.1_3'UTR	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN	chromosome 1 open reading frame 53	135										endometrium(1)|lung(1)	2						AGATCCATCTAAAAAGAAGCA	0.274																																						ENST00000367393.3																			0				endometrium(1)|lung(1)	2						c.(403-405)Aaa>Caa		chromosome 1 open reading frame 53							66	66	66					1																	197876315		1795	4061	5856	SO:0001583	missense	388722							g.chr1:197876315A>C	BC038214	CCDS44290.1	1q31.3	2011-01-26			ENSG00000203724	ENSG00000203724			30003	protein-coding gene	gene with protein product						15897902	Standard	NM_001024594		Approved		uc001guh.3	Q5VUE5	OTTHUMG00000035659	ENST00000367393.3:c.403A>C	1.37:g.197876315A>C	ENSP00000356363:p.Lys135Gln					C1orf53_ENST00000542800.1_3'UTR	p.K135Q	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN			3	406	+			135					A1L4N2|Q5VUE4	Missense_Mutation	SNP	ENST00000367393.3	37	c.403A>C	CCDS44290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.24|19.24	3.789912|3.789912	0.70337|0.70337	.|.	.|.	ENSG00000203724|ENSG00000203724	ENST00000367393|ENST00000436652	.|.	.|.	.|.	6.03|6.03	4.9|4.9	0.64082|0.64082	.|.	0.075310|.	0.49916|.	U|.	0.000130|.	T|.	0.65502|.	0.2697|.	M|M	0.67397|0.67397	2.05|2.05	0.48452|0.48452	D|D	0.99965|0.99965	D|.	0.76494|.	0.999|.	D|.	0.69479|.	0.964|.	T|.	0.63950|.	-0.6521|.	9|.	0.72032|.	D|.	0.01|.	-22.4148|-22.4148	11.3561|11.3561	0.49617|0.49617	0.9297:0.0:0.0703:0.0|0.9297:0.0:0.0703:0.0	.|.	135|.	Q5VUE5|.	CA053_HUMAN|.	Q|S	135|71	.|.	ENSP00000356363:K135Q|.	K|X	+|+	1|2	0|2	C1orf53|C1orf53	196142938|196142938	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.726000|5.726000	0.68515|0.68515	1.106000|1.106000	0.41623|0.41623	0.533000|0.533000	0.62120|0.62120	AAA|TAA		0.274	C1orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086555.1	NM_001024594		13	19	0	0	0	1	0	13	19					C	197876315	A	C	197876315	3	2	480	1	0	0	0	0	1	0	0	0	2045	363	13	5	413	5	C1orf53	1	197876315	Missense_Mutation	SNP	A	TCGA-ZG-A9L0-01A-11D-A41K-08	151895663	197876315	51374306	3	32159											
ZNF695	57116	broad.mit.edu	37	chr1	247150485	247150485	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatatgaaaaccagttaaaAgctttgccacattcatcaca	17	10	5	9	0	2	2	2	1	0	1	2	2	2	2	2	0	3	2	2	0	5	4			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr1:247150485A>C	ENST00000339986.7	-	4	1479	c.1332T>G	c.(1330-1332)gcT>gcG	p.A444A	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	444					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	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)			ACCAGTTAAAAGCTTTGCCAC	0.383																																						ENST00000339986.7																			0				endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13						c.(1330-1332)gcT>gcG		zinc finger protein 695							50	52	52					1																	247150485		2103	4257	6360	SO:0001819	synonymous_variant	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247150485A>C		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"Zinc fingers, C2H2-type", "-"	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.1332T>G	1.37:g.247150485A>C						ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	p.A444A	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		4	1479	-	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)	444					Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Silent	SNP	ENST00000339986.7	37	c.1332T>G	CCDS44344.1																																																																																				0.383	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		17	35	0	0	0	1	0	17	35					C	247150485	A	C	247150485	2	2	480	1	0	0	0	0	0	0	0	1	18095	59	3	5		5	ZNF695	1	247150485	Silent	SNP	A	TCGA-ZG-A9L0-01A-11D-A41K-08	49274170	247150485	2100136	4	32160											
OR2M4	26245	broad.mit.edu	37	chr1	248402787	248402787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgttgctgcccttttacCtctatcctgcacagaaacat	9	14	6	12	0	1	2	0	1	1	1	2	2	2	2	3	0	5	3	3	0	3	4			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr1:248402787C>A	ENST00000306687.1	+	1	557	c.557C>A	c.(556-558)cCt>cAt	p.P186H		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	186					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCCTTTTACCTCTATCCTGC	0.398																																						ENST00000306687.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(556-558)cCt>cAt		olfactory receptor, family 2, subfamily M, member 4							140	134	136					1																	248402787		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402787C>A	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"GPCR / Class A : Olfactory receptors"	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.557C>A	1.37:g.248402787C>A	ENSP00000306688:p.Pro186His						p.P186H	NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	557	+	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)		186					Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.557C>A	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	c	6.734	0.504226	0.12822	.	.	ENSG00000171180	ENST00000306687	T	0.00076	8.76	3.16	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	1.586730	0.04121	N	0.316247	T	0.00109	0.0003	N	0.03084	-0.415	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.21177	-1.0253	10	0.52906	T	0.07	.	8.0659	0.30661	0.3863:0.6137:0.0:0.0	.	186	Q96R27	OR2M4_HUMAN	H	186	ENSP00000306688:P186H	ENSP00000306688:P186H	P	+	2	0	OR2M4	246469410	0.000000	0.05858	0.314000	0.25224	0.987000	0.75469	-0.333000	0.07894	1.734000	0.51633	0.543000	0.68304	CCT		0.398	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		13	122	1	0	1.3612e-06	1	1.58344e-06	13	122					A	248402787	C	A	248402787	3	1	480	1	0	0	0	0	1	0	0	0	11012	681	24	5	559	5	OR2M4	1	248402787	Missense_Mutation	SNP	C	TCGA-ZG-A9L0-01A-11D-A41K-08	1252302	248402787	847834	5	32161											
SLC4A3	6508	broad.mit.edu	37	chr2	220504357	220504357	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgtcacccatgtcaatgcGttgacagtgatgcgtactgc	8	11	10	12	3	2	2	2	2	0	0	3	2	3	2	2	0	4	2	2	0	2	2	rs138004203		TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr2:220504357G>A	ENST00000358055.3	+	20	3689	c.3177G>A	c.(3175-3177)gcG>gcA	p.A1059A	SLC4A3_ENST00000373760.2_Silent_p.A1059A|SLC4A3_ENST00000373762.3_Silent_p.A1086A|SLC4A3_ENST00000317151.3_Silent_p.A1059A|SLC4A3_ENST00000273063.6_Silent_p.A1086A			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1059	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.A1086A(1)		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)		ATGTCAATGCGTTGACAGTGA	0.652																																						ENST00000358055.3																			1	Substitution - coding silent(1)	p.A1086A(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(3175-3177)gcG>gcA		solute carrier family 4 (anion exchanger), member 3		G	,	0,4406		0,0,2203	72	62	65		3177,3258	-5.2	0	2	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC4A3	NM_005070.3,NM_201574.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1059/1233,1086/1260	220504357	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220504357G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3177G>A	2.37:g.220504357G>A						SLC4A3_ENST00000373760.2_Silent_p.A1059A|SLC4A3_ENST00000317151.3_Silent_p.A1059A|SLC4A3_ENST00000273063.6_Silent_p.A1086A|SLC4A3_ENST00000373762.3_Silent_p.A1086A	p.A1059A			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	20	3689	+		Renal(207;0.0183)	1059			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	c.3177G>A	CCDS2445.1																																																																																				0.652	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		12	43	0	0	0	1	0	12	43					A	220504357	G	A	220504357	2	1	480	1	0	0	0	0	0	0	0	1	14655	1132	40	1		1	SLC4A3	2	220504357	Silent	SNP	G	TCGA-ZG-A9L0-01A-11D-A41K-08		220504357	22695016	6	32162											
MTMR14	64419	broad.mit.edu	37	chr3	9712766	9712766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctttttgataaggtcagaGgctatgacatcaagctgctt	11	14	9	7	0	3	3	2	2	1	1	3	3	3	3	0	2	2	3	0	2	3	5			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr3:9712766G>A	ENST00000296003.4	+	6	711	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Missense_Mutation_p.G197S|MTMR14_ENST00000353332.5_Missense_Mutation_p.G197S	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	197					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TAAGGTCAGAGGCTATGACAT	0.468																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(589-591)Ggc>Agc		myotubularin related protein 14							142	135	137					3																	9712766		1997	4179	6176	SO:0001583	missense	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9712766G>A	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	26190	protein-coding gene	gene with protein product	"egg-derived tyrosine phosphatase homolog (Drosophila)"	611089	"chromosome 3 open reading frame 29"	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.589G>A	3.37:g.9712766G>A	ENSP00000296003:p.Gly197Ser					MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Missense_Mutation_p.G197S|MTMR14_ENST00000351233.5_Missense_Mutation_p.G197S	p.G197S	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			6	711	+	Medulloblastoma(99;0.227)		197					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	c.589G>A	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287422	0.80803	.	.	ENSG00000163719	ENST00000353332;ENST00000296003;ENST00000351233;ENST00000419048	D;D;D	0.89939	-2.59;-2.59;-2.59	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.92153	0.7512	L	0.43757	1.38	0.80722	D	1	D;P;P	0.89917	1.0;0.84;0.517	D;B;B	0.91635	0.999;0.284;0.154	D	0.88515	0.3092	10	0.18710	T	0.47	-10.2993	19.9089	0.97019	0.0:0.0:1.0:0.0	.	197;197;197	Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;MTMRE_HUMAN	S	197	ENSP00000323462:G197S;ENSP00000296003:G197S;ENSP00000334070:G197S	ENSP00000296003:G197S	G	+	1	0	MTMR14	9687766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.893000	0.92498	2.793000	0.96121	0.655000	0.94253	GGC		0.468	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		4	104	0	0	0	1	0	4	104					A	9712766	G	A	9712766	3	1	480	1	0	0	0	0	1	0	0	0	9942	1000	35	3	611	3	MTMR14	3	9712766	Missense_Mutation	SNP	G	TCGA-ZG-A9L0-01A-11D-A41K-08		9712766	188309664	7	32163											
MST1	327	broad.mit.edu	37	chr3	49721883	49721883	+	IGR	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaggactgtgtcattacccGtacctgcagtgaggggaatg	9	11	13	8	1	1	1	1	1	0	0	1	3	1	3	2	3	3	2	2	3	4	3	rs532706844		TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr3:49721883G>T	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.T627K	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			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)		GTCATTACCCGTACCTGCAGT	0.577																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1879-1881)aCg>aAg		macrophage stimulating 1 (hepatocyte growth factor-like)							71	75	74					3																	49721883		2203	4299	6502	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49721883G>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721883G>T							p.T627K	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	17	2241	-			613			Peptidase S1.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1880C>A	CCDS2801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.05|11.05	1.525219|1.525219	0.27299|0.27299	.|.	.|.	ENSG00000173531|ENSG00000173531	ENST00000449682|ENST00000448220	D|.	0.88046|.	-2.33|.	5.13|5.13	4.26|4.26	0.50523|0.50523	.|.	0.000000|.	0.43579|.	D|.	0.000543|.	T|.	0.61489|.	0.2351|.	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	P|.	0.40476|.	0.718|.	B|.	0.29716|.	0.106|.	T|.	0.59139|.	-0.7510|.	10|.	0.59425|.	D|.	0.04|.	.|.	13.7055|13.7055	0.62636|0.62636	0.0748:0.0:0.9252:0.0|0.0748:0.0:0.9252:0.0	.|.	627|.	G3XAK1|.	.|.	K|X	627|96	ENSP00000414287:T627K|.	ENSP00000414287:T627K|.	T|Y	-|-	2|3	0|2	MST1|MST1	49696887|49696887	0.998000|0.998000	0.40836|0.40836	0.135000|0.135000	0.22099|0.22099	0.190000|0.190000	0.23558|0.23558	2.811000|2.811000	0.47986|0.47986	1.298000|1.298000	0.44778|0.44778	0.561000|0.561000	0.74099|0.74099	ACG|TAC		0.577	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			5	77	1	0	0.014758	1	0.0158718	5	77					T	49721883	G	T	49721883	1	4	480	0	1	0	0	0	0	0	0	0	9890	1145	40	5		5	MST1	3	49721883	IGR	SNP	G	TCGA-ZG-A9L0-01A-11D-A41K-08	40009117	49721883	148300547	8	32164											
C3orf17	25871	broad.mit.edu	37	chr3	112732171	112732171	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcaacaacttgcaggctcCcaaaaccttcatcaacacca	15	6	5	15	0	2	0	2	0	0	0	3	1	3	0	3	1	6	3	3	1	5	2			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr3:112732171C>A	ENST00000314400.5	-	4	612	c.421G>T	c.(421-423)Gga>Tga	p.G141*	C3orf17_ENST00000383675.2_Intron|C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000393857.2_Nonsense_Mutation_p.G5*	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	141					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TTGCAGGCTCCCAAAACCTTC	0.398																																						ENST00000314400.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(421-423)Gga>Tga		chromosome 3 open reading frame 17							119	125	123					3																	112732171		2203	4300	6503	SO:0001587	stop_gained	25871					integral to membrane		g.chr3:112732171C>A	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.421G>T	3.37:g.112732171C>A	ENSP00000320251:p.Gly141*					C3orf17_ENST00000393857.2_Nonsense_Mutation_p.G5*|C3orf17_ENST00000383675.2_Intron	p.G141*	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN			4	612	-			141					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Nonsense_Mutation	SNP	ENST00000314400.5	37	c.421G>T	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	C	36	5.893511	0.97074	.	.	ENSG00000163608	ENST00000314400;ENST00000393857;ENST00000472166	.	.	.	5.9	5.03	0.67393	.	0.145454	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.1557	12.2924	0.54825	0.0:0.9207:0.0:0.0793	.	.	.	.	X	141;5;66	.	ENSP00000320251:G141X	G	-	1	0	C3orf17	114214861	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.386000	0.66238	1.509000	0.48786	0.655000	0.94253	GGA		0.398	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		4	71	1	0	0.000602214	1	0.000673063	4	71					A	112732171	C	A	112732171	4	1	480	1	0	0	0	0	0	1	0	0	2210	632	22	5	1306	5	C3orf17	3	112732171	Nonsense_Mutation	SNP	C	TCGA-ZG-A9L0-01A-11D-A41K-08	63010288	112732171	85290259	9	32165											
SOX14	8403	broad.mit.edu	37	chr3	137484144	137484149	+	In_Frame_Del	DEL	AGAACG	AGAACG	-																															cgcgtccaccctgggctaccAgaacggcgccttcggcagcc																										TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr3:137484144_137484149delAGAACG	ENST00000306087.1	+	1	566_571	c.518_523delAGAACG	c.(517-525)cagaacggc>cgc	p.173_175QNG>R		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	173					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						CTGGGCTACCAGAACGGCGCCTTCGG	0.675																																						ENST00000306087.1																			0				large_intestine(2)|lung(12)	14						c.(517-525)cgc>c		SRY (sex determining region Y)-box 14																																				SO:0001651	inframe_deletion	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137484144_137484149delAGAACG	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"SRY (sex determining region Y)-boxes"	11193	protein-coding gene	gene with protein product	"HMG box transcription factor SOX-14", "SRY-box 14"	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.518_523delAGAACG	3.37:g.137484144_137484149delAGAACG	ENSP00000305343:p.Gln173_Gly175delinsArg						p.QNG173del	NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN			1	566_571	+			173					B2RAC0|Q3KPH7	In_Frame_Del	DEL	ENST00000306087.1	37	c.518_523delAGAACG	CCDS3094.1																																																																																				0.675	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		3	3						3	3	---	---	---	---	-	137484149	AGAACG	-	137484144	7	5	480	1	0	1	0	1	0	0	0	0	14945	188	7	0	520	0	SOX14	3	137484144	In_Frame_Del	DEL	AGAACG	TCGA-ZG-A9L0-01A-11D-A41K-08	24751973	137484144	60538286	10	32166											
FBXO45	200933	broad.mit.edu	37	chr3	196311181	196311181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttaccttggaaaacctttgGacggatgacagtggctttct	9	14	10	8	1	1	1	0	1	1	0	1	4	1	4	2	4	2	1	2	4	3	5			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr3:196311181G>T	ENST00000311630.6	+	3	1150	c.853G>T	c.(853-855)Gac>Tac	p.D285Y	FBXO45_ENST00000440469.1_Missense_Mutation_p.D106Y	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	285					anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AAAACCTTTGGACGGATGACA	0.448																																						ENST00000311630.6																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(853-855)Gac>Tac		F-box protein 45							97	93	94					3																	196311181		1933	4145	6078	SO:0001583	missense	200933				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding	g.chr3:196311181G>T	AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"F-boxes /  "other""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.853G>T	3.37:g.196311181G>T	ENSP00000310332:p.Asp285Tyr					FBXO45_ENST00000440469.1_Missense_Mutation_p.D106Y	p.D285Y	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	3	1150	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		285					A6NF90|D3DXB5	Missense_Mutation	SNP	ENST00000311630.6	37	c.853G>T	CCDS46985.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.639019	0.47153	.	.	ENSG00000174013	ENST00000440469;ENST00000311630	T	0.47869	0.83	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.50377	0.1612	M	0.65975	2.015	0.80722	D	1	P	0.47106	0.89	B	0.41174	0.349	T	0.56202	-0.8018	10	0.45353	T	0.12	-11.3425	18.7709	0.91892	0.0:0.0:1.0:0.0	.	285	P0C2W1	FBSP1_HUMAN	Y	106;285	ENSP00000310332:D285Y	ENSP00000310332:D285Y	D	+	1	0	FBXO45	197795578	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	8.985000	0.93487	2.740000	0.93945	0.563000	0.77884	GAC		0.448	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340687.2			12	24	1	0	1.61879e-10	1	2.00589e-10	12	24					T	196311181	G	T	196311181	3	4	480	1	0	0	0	0	1	0	0	0	5754	1174	41	5	863	5	FBXO45	3	196311181	Missense_Mutation	SNP	G	TCGA-ZG-A9L0-01A-11D-A41K-08	58827037	196311181	1711249	11	32167											
HNRPDL	9987	broad.mit.edu	37	chr4	83350461	83350461	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctgcgaattcctctataTtgctgtactcgttcatatcc	7	16	5	13	2	3	0	1	0	2	0	6	1	5	0	3	0	3	3	3	0	5	7			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr4:83350461T>A	ENST00000295470.5	-	1	558	c.383A>T	c.(382-384)aAt>aTt	p.N128I	HNRNPDL_ENST00000602300.1_Missense_Mutation_p.N9I|ENOPH1_ENST00000509635.1_5'Flank|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.N128I|ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.N9I	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	128					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										TTCCTCTATATTGCTGTACTC	0.627																																						ENST00000295470.5																			0											c.(382-384)aAt>aTt		heterogeneous nuclear ribonucleoprotein D-like							106	117	114					4																	83350461		2203	4300	6503	SO:0001583	missense	9987							g.chr4:83350461T>A	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.383A>T	4.37:g.83350461T>A	ENSP00000295470:p.Asn128Ile					HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.N128I|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.N9I|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.N9I	p.N128I	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1					1	558	-								Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	c.383A>T	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	t	15.24	2.775883	0.49786	.	.	ENSG00000152795	ENST00000295470;ENST00000502762;ENST00000349655	T;T;T	0.68624	-0.34;-0.34;-0.07	4.76	4.76	0.60689	.	0.000000	0.45126	D	0.000399	T	0.51941	0.1704	L	0.36672	1.1	0.29734	N	0.837652	P;P	0.42827	0.662;0.791	B;B	0.34931	0.157;0.192	T	0.60944	-0.7162	10	0.72032	D	0.01	.	10.2799	0.43532	0.0:0.0:0.1658:0.8342	.	9;128	O14979-3;O14979	.;HNRDL_HUMAN	I	128;128;9	ENSP00000295470:N128I;ENSP00000422040:N128I;ENSP00000338552:N9I	ENSP00000295470:N128I	N	-	2	0	HNRPDL	83569485	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	3.026000	0.49689	2.001000	0.58596	0.397000	0.26171	AAT		0.627	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		59	59	0	0	0	1	0	59	59					A	83350461	T	A	83350461	3	1	480	1	0	0	0	0	1	0	0	0	7276	1493	52	5	907	5	HNRPDL	4	83350461	Missense_Mutation	SNP	T	TCGA-ZG-A9L0-01A-11D-A41K-08		83350461	107803815	12	32168											
RAI14	26064	broad.mit.edu	37	chr5	34796092	34796092	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaatgcctcagggtcatGattacacatggtgtggatgt	9	12	14	6	0	2	1	2	1	0	0	2	3	2	3	1	4	2	0	1	4	2	1			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr5:34796092G>T	ENST00000265109.3	+	4	503	c.216G>T	c.(214-216)atG>atT	p.M72I	RAI14_ENST00000397449.1_Missense_Mutation_p.M65I|RAI14_ENST00000515799.1_Missense_Mutation_p.M75I|RAI14_ENST00000512629.1_Missense_Mutation_p.M72I|RAI14_ENST00000506376.1_Missense_Mutation_p.M64I|RAI14_ENST00000428746.2_Missense_Mutation_p.M72I|RAI14_ENST00000503673.1_Missense_Mutation_p.M72I|RAI14_ENST00000507276.1_3'UTR	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	72						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				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)					TCAGGGTCATGATTACACATG	0.428																																						ENST00000265109.3																			0				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						c.(214-216)atG>atT		retinoic acid induced 14							224	196	205					5																	34796092		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34796092G>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.216G>T	5.37:g.34796092G>T	ENSP00000265109:p.Met72Ile					RAI14_ENST00000428746.2_Missense_Mutation_p.M72I|RAI14_ENST00000503673.1_Missense_Mutation_p.M72I|RAI14_ENST00000512629.1_Missense_Mutation_p.M72I|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000506376.1_Missense_Mutation_p.M64I|RAI14_ENST00000397449.1_Missense_Mutation_p.M65I|RAI14_ENST00000515799.1_Missense_Mutation_p.M75I	p.M72I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			4	503	+	all_lung(31;0.000191)		72					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.216G>T	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969633	0.92855	.	.	ENSG00000039560	ENST00000265109;ENST00000514527;ENST00000513974;ENST00000512629;ENST00000428746;ENST00000514873;ENST00000503673;ENST00000504052;ENST00000512305;ENST00000514036;ENST00000515799;ENST00000508315;ENST00000512625;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66460	-0.01;1.49;1.49;-0.01;-0.01;1.49;-0.01;1.49;1.49;1.49;0.74;1.49;-0.21;-0.01;-0.01	6.08	6.08	0.98989	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.64394	0.2594	N	0.04260	-0.245	0.49389	D	0.999788	D;D;D;D	0.59357	0.982;0.985;0.982;0.985	D;D;D;D	0.72338	0.961;0.977;0.961;0.977	T	0.65100	-0.6250	9	0.21540	T	0.41	-19.5816	17.5802	0.87965	0.0:0.0:1.0:0.0	.	64;72;75;72	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	I	72;72;72;72;72;72;72;72;72;72;75;72;72;64;65	ENSP00000265109:M72I;ENSP00000424879:M72I;ENSP00000422112:M72I;ENSP00000422377:M72I;ENSP00000388725:M72I;ENSP00000421424:M72I;ENSP00000422942:M72I;ENSP00000422515:M72I;ENSP00000422114:M72I;ENSP00000424502:M72I;ENSP00000427123:M75I;ENSP00000426770:M72I;ENSP00000425115:M72I;ENSP00000423854:M64I;ENSP00000380591:M65I	ENSP00000265109:M72I	M	+	3	0	RAI14	34831849	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	4.659000	0.61504	2.894000	0.99253	0.655000	0.94253	ATG		0.428	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		5	116	1	0	2.0095e-06	1	2.29083e-06	5	116					T	34796092	G	T	34796092	3	4	480	1	0	0	0	0	1	0	0	0	13008	1290	45	5	291	5	RAI14	5	34796092	Missense_Mutation	SNP	G	TCGA-ZG-A9L0-01A-11D-A41K-08		34796092	146119168	13	32169											
PCDHB15	56121	broad.mit.edu	37	chr5	140625165	140625165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatggagcctgcaggggagCgctttcccgaacaaaggcaa	12	5	14	10	2	0	1	0	0	0	1	1	4	1	3	2	4	4	3	2	4	3	1	rs147410183		TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr5:140625165C>T	ENST00000231173.3	+	1	19	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	7					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGGGAGCGCTTTCCCGA	0.537																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(19-21)Cgc>Tgc									52	57	56					5																	140625165		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140625165C>T	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.19C>T	5.37:g.140625165C>T	ENSP00000231173:p.Arg7Cys						p.R7C	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	19	+			7					Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.19C>T	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339378	0.41398	.	.	ENSG00000113248	ENST00000231173	T	0.52754	0.65	5.35	0.496	0.16896	.	.	.	.	.	T	0.27063	0.0663	L	0.28274	0.84	0.09310	N	1	B	0.22003	0.063	B	0.11329	0.006	T	0.17745	-1.0359	9	0.33141	T	0.24	.	1.2337	0.01949	0.2693:0.4026:0.1333:0.1948	.	7	Q9Y5E8	PCDBF_HUMAN	C	7	ENSP00000231173:R7C	ENSP00000231173:R7C	R	+	1	0	PCDHB15	140605349	0.000000	0.05858	0.001000	0.08648	0.439000	0.31926	-0.221000	0.09202	0.144000	0.18951	0.491000	0.48974	CGC		0.537	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		12	21	0	0	0	1	0	12	21					T	140625165	C	T	140625165	3	4	480	1	0	0	0	0	1	0	0	0	11540	768	27	1	21	1	PCDHB15	5	140625165	Missense_Mutation	SNP	C	TCGA-ZG-A9L0-01A-11D-A41K-08	105829073	140625165	40290095	14	32170											
GPR115	221393	broad.mit.edu	37	chr6	47682675	47682675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttagcatttgccatccCggcgttcgtcattgtggctg	4	15	10	12	3	1	0	1	0	0	0	3	0	2	0	3	2	2	3	3	2	1	5	rs140641930	byFrequency	TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr6:47682675C>T	ENST00000283303.2	+	6	1952	c.1694C>T	c.(1693-1695)cCg>cTg	p.P565L	GPR115_ENST00000327753.3_Missense_Mutation_p.P565L|GPR115_ENST00000371220.1_Missense_Mutation_p.P622L|RN7SKP116_ENST00000516902.1_RNA	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	565					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			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						TTTGCCATCCCGGCGTTCGTC	0.488																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				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						c.(1693-1695)cCg>cTg		G protein-coupled receptor 115		C	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	129	128	128		1694	5.2	1	6	dbSNP_134	128	0,8600		0,0,4300	no	missense	GPR115	NM_153838.3	98	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	565/696	47682675	2,13004	2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682675C>T	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1694C>T	6.37:g.47682675C>T	ENSP00000283303:p.Pro565Leu					GPR115_ENST00000327753.3_Missense_Mutation_p.P565L|GPR115_ENST00000371220.1_Missense_Mutation_p.P622L	p.P565L	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			6	1952	+			565					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.1694C>T	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075107	0.55646	4.54E-4	0.0	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.56103	0.48;0.48;0.48	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000001	T	0.75975	0.3923	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81709	-0.0809	10	0.87932	D	0	-13.8982	18.158	0.89700	0.0:1.0:0.0:0.0	.	565	Q8IZF3	GP115_HUMAN	L	622;565;565	ENSP00000360264:P622L;ENSP00000328319:P565L;ENSP00000283303:P565L	ENSP00000283303:P565L	P	+	2	0	GPR115	47790634	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	7.745000	0.85046	2.593000	0.87608	0.655000	0.94253	CCG		0.488	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		38	76	0	0	0	1	0	38	76					T	47682675	C	T	47682675	3	4	480	1	0	0	0	0	1	0	0	0	6632	652	23	2	1712	2	GPR115	6	47682675	Missense_Mutation	SNP	C	TCGA-ZG-A9L0-01A-11D-A41K-08		47682675	123432392	15	32171											
KIF25	3834	broad.mit.edu	37	chr6	168442674	168442674	+	Frame_Shift_Del	DEL	C	C	-																															caagcctgcagtgccaccctCcccagggagcaaacagaggc																										TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr6:168442674delC	ENST00000443060.2	+	8	1063	c.672delC	c.(670-672)ctcfs	p.L224fs	KIF25_ENST00000354419.2_Frame_Shift_Del_p.L224fs|KIF25_ENST00000351261.3_Frame_Shift_Del_p.L224fs			Q9UIL4	KIF25_HUMAN	kinesin family member 25	224	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		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)		GTGCCACCCTCCCCAGGGAGC	0.612																																						ENST00000443060.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(670-672)ctfs		kinesin family member 25							26	27	26					6																	168442674		2119	4168	6287	SO:0001589	frameshift_variant	0				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168442674delC	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"Kinesins"	6390	protein-coding gene	gene with protein product		603815	"kinesin-like 3"	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.672delC	6.37:g.168442674delC	ENSP00000388878:p.Leu224fs					KIF25_ENST00000354419.2_Frame_Shift_Del_p.L224fs|KIF25_ENST00000351261.3_Frame_Shift_Del_p.L224fs	p.L224fs			Q9UIL4	KIF25_HUMAN		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)	8	1063	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	224			Kinesin-motor.		O94775|Q5SZU9	Frame_Shift_Del	DEL	ENST00000443060.2	37	c.672delC	CCDS5305.1																																																																																				0.612	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			2	4						2	4	---	---	---	---	-	168442674	C	-	168442674	7	5	480	1	0	1	0	1	0	0	0	0	8293	842	30	0	694	0	KIF25	6	168442674	Frame_Shift_Del	DEL	C	TCGA-ZG-A9L0-01A-11D-A41K-08	120759999	168442674	2672393	16	32172											
C7orf27	221927	broad.mit.edu	37	chr7	2582851	2582851	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accataccagtgctcgagctTcaggatccccaaagccaggg	11	6	10	14	1	1	0	1	0	0	0	3	2	2	1	5	2	4	2	5	2	2	2			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr7:2582851T>G	ENST00000340611.4	-	6	1166	c.910A>C	c.(910-912)Aag>Cag	p.K304Q	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	304					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						TGCTCGAGCTTCAGGATCCCC	0.652																																						ENST00000340611.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(910-912)Aag>Cag		BRCA1-associated ATM activator 1							73	75	74					7																	2582851		2203	4300	6503	SO:0001583	missense	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2582851T>G	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.910A>C	7.37:g.2582851T>G	ENSP00000339637:p.Lys304Gln						p.K304Q	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN			6	1166	-			304					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	c.910A>C	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.672171	0.47781	.	.	ENSG00000106009	ENST00000340611	T	0.67865	-0.29	5.85	4.67	0.58626	Armadillo-type fold (1);	0.478085	0.23949	N	0.042975	T	0.59101	0.2169	L	0.60455	1.87	0.40249	D	0.978042	P	0.35507	0.506	B	0.28305	0.088	T	0.61778	-0.6993	10	0.66056	D	0.02	-12.7255	10.9263	0.47193	0.0:0.0:0.1572:0.8428	.	304	Q6PJG6	BRAT1_HUMAN	Q	304	ENSP00000339637:K304Q	ENSP00000339637:K304Q	K	-	1	0	BRAT1	2549377	1.000000	0.71417	0.926000	0.36857	0.280000	0.26924	4.559000	0.60796	0.997000	0.38969	0.533000	0.62120	AAG		0.652	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		14	47	0	0	0	1	0	14	47					G	2582851	T	G	2582851	3	3	480	1	0	0	0	0	1	0	0	0	2382	1792	62	5	1591	5	C7orf27	7	2582851	Missense_Mutation	SNP	T	TCGA-ZG-A9L0-01A-11D-A41K-08		2582851	156555812	17	32173											
ZNF479	90827	broad.mit.edu	37	chr7	57187780	57187780	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcagtgagggttgaggataAgctaaaggctttgccacatt	11	11	13	6	0	1	2	1	2	0	0	1	3	1	3	1	3	2	3	1	3	3	5			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr7:57187780A>C	ENST00000331162.4	-	5	1612	c.1342T>G	c.(1342-1344)Tta>Gta	p.L448V		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			GTTGAGGATAAGCTAAAGGCT	0.438																																						ENST00000331162.4																			0				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						c.(1342-1344)Tta>Gta		zinc finger protein 479							47	46	47					7																	57187780		2007	4179	6186	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187780A>C	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1342T>G	7.37:g.57187780A>C	ENSP00000333776:p.Leu448Val						p.L448V	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1612	-			448						Missense_Mutation	SNP	ENST00000331162.4	37	c.1342T>G	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	a	0.018	-1.480212	0.01027	.	.	ENSG00000185177	ENST00000331162	T	0.08282	3.11	0.955	-1.63	0.08345	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	N	0.21142	0.635	0.09310	N	1	B	0.29716	0.255	B	0.22152	0.038	T	0.44345	-0.9334	9	0.15952	T	0.53	.	2.0227	0.03513	0.2806:0.0:0.4296:0.2898	.	448	Q96JC4	ZN479_HUMAN	V	448	ENSP00000333776:L448V	ENSP00000333776:L448V	L	-	1	2	ZNF479	57191722	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.455000	0.00011	-0.495000	0.06659	-0.505000	0.04504	TTA		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		5	154	0	0	0	1	0	5	154					C	57187780	A	C	57187780	3	2	480	1	0	0	0	0	1	0	0	0	17930	69	3	5	236	5	ZNF479	7	57187780	Missense_Mutation	SNP	A	TCGA-ZG-A9L0-01A-11D-A41K-08	54604929	57187780	101950883	18	32174											
ZNF117	51351	broad.mit.edu	37	chr7	64438887	64438887	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggtttctctccagtatgAattaccttatgtctagtaag	10	16	8	7	0	2	1	0	1	2	0	4	1	3	1	2	1	1	3	2	1	7	7			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr7:64438887A>G	ENST00000282869.6	-	4	2346	c.1062T>C	c.(1060-1062)atT>atC	p.I354I		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	354					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			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)				CTCCAGTATGAATTACCTTAT	0.388																																						ENST00000282869.5																			0				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						c.(1060-1062)atT>atC		zinc finger protein 117							66	70	69					7																	64438887		2153	4275	6428	SO:0001819	synonymous_variant	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64438887A>G	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"Zinc fingers, C2H2-type"	12897	protein-coding gene	gene with protein product		194624	"zinc finger protein 117 (HPF9)"			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.1062T>C	7.37:g.64438887A>G							p.I354I	NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN			4	2346	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	354					Q02313|Q7Z7Q7	Silent	SNP	ENST00000282869.6	37	c.1062T>C	CCDS43593.1																																																																																				0.388	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		7	106	0	0	0	1	0	7	106					G	64438887	A	G	64438887	2	3	480	1	0	0	0	0	0	0	0	1	17714	242	9	4		4	ZNF117	7	64438887	Silent	SNP	A	TCGA-ZG-A9L0-01A-11D-A41K-08	7251107	64438887	94699776	19	32175											
ZNF800	168850	broad.mit.edu	37	chr7	127013781	127013781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatgaaccacagttatatGtcgtatcacatcacgtttcc	11	15	5	10	2	2	1	2	1	0	0	4	1	3	1	2	0	1	3	2	0	5	6			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr7:127013781G>A	ENST00000393313.1	-	5	2200	c.1609C>T	c.(1609-1611)Cat>Tat	p.H537Y	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.H537Y|ZNF800_ENST00000393312.1_Missense_Mutation_p.H537Y			Q2TB10	ZN800_HUMAN	zinc finger protein 800	537					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						ACAGTTATATGTCGTATCACA	0.348																																						ENST00000393313.1																			0				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						c.(1609-1611)Cat>Tat		zinc finger protein 800							79	75	77					7																	127013781		2203	4300	6503	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127013781G>A	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1609C>T	7.37:g.127013781G>A	ENSP00000376989:p.His537Tyr					ZNF800_ENST00000393312.1_Missense_Mutation_p.H537Y|ZNF800_ENST00000265827.3_Missense_Mutation_p.H537Y	p.H537Y			Q2TB10	ZN800_HUMAN			5	2200	-			537					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1609C>T	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302131	0.60195	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	D;D;D	0.99924	-8.02;-8.02;-8.02	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	L	0.32530	0.975	0.36534	D	0.870870	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	D	0.96791	0.9582	8	.	.	.	-18.1662	19.6475	0.95784	0.0:0.0:1.0:0.0	.	440;537	B7Z4V7;Q2TB10	.;ZN800_HUMAN	Y	537	ENSP00000376989:H537Y;ENSP00000265827:H537Y;ENSP00000376988:H537Y	.	H	-	1	0	ZNF800	126801017	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.434000	0.97515	2.885000	0.99019	0.655000	0.94253	CAT		0.348	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		47	56	0	0	0	1	0	47	56					A	127013781	G	A	127013781	3	1	480	1	0	0	0	0	1	0	0	0	18166	1377	48	3	393	3	ZNF800	7	127013781	Missense_Mutation	SNP	G	TCGA-ZG-A9L0-01A-11D-A41K-08	62574894	127013781	32124882	20	32176											
CHRNA6	8973	broad.mit.edu	37	chr8	42611170	42611171	+	Frame_Shift_Del	DEL	TG	TG	-																															aatggaagcattctttaagaTgtctgggttccccatggctt																										TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr8:42611170_42611171delTG	ENST00000276410.2	-	5	1526_1527	c.1171_1172delCA	c.(1171-1173)catfs	p.H391fs	CHRNA6_ENST00000534622.1_Frame_Shift_Del_p.H376fs|CHRNA6_ENST00000530869.1_5'Flank	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	391					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			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)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	TTCTTTAAGATGTCTGGGTTCC	0.515																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(1171-1173)tfs		cholinergic receptor, nicotinic, alpha 6 (neuronal)																																				SO:0001589	frameshift_variant	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611170_42611171delTG	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	15963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 6 (neuronal)"	606888	"cholinergic receptor, nicotinic, alpha polypeptide 6"			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.1171_1172delCA	8.37:g.42611170_42611171delTG	ENSP00000276410:p.His391fs					CHRNA6_ENST00000534622.1_Frame_Shift_Del_p.H376fs	p.H391fs	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	1526_1527	-	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)	391					B2R8V4|B4DQH1	Frame_Shift_Del	DEL	ENST00000276410.2	37	c.1171_1172delCA	CCDS6135.1																																																																																				0.515	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			36	69						36	69	---	---	---	---	-	42611171	TG	-	42611170	7	5	480	1	0	1	0	1	0	0	0	0	3387	1464	51	0	320	0	CHRNA6	8	42611170	Frame_Shift_Del	DEL	TG	TCGA-ZG-A9L0-01A-11D-A41K-08		42611170	103752852	21	32177											
TRPM3	80036	broad.mit.edu	37	chr9	73240153	73240153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagggtccggaagcgcttgCgcgtgtagttgcagcgataa	9	8	16	8	5	0	1	0	0	0	1	1	3	1	2	1	2	4	4	1	2	3	4			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr9:73240153C>T	ENST00000377111.2	-	13	1970	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	TRPM3_ENST00000408909.2_Missense_Mutation_p.R435H|TRPM3_ENST00000396280.5_Missense_Mutation_p.R435H|TRPM3_ENST00000377110.3_Missense_Mutation_p.R576H|TRPM3_ENST00000423814.3_Missense_Mutation_p.R603H|TRPM3_ENST00000357533.2_Missense_Mutation_p.R590H|TRPM3_ENST00000358082.3_Missense_Mutation_p.R448H|TRPM3_ENST00000396285.1_Missense_Mutation_p.R423H|TRPM3_ENST00000377106.1_Missense_Mutation_p.R448H|TRPM3_ENST00000360823.2_Missense_Mutation_p.R448H|TRPM3_ENST00000396292.4_Missense_Mutation_p.R448H|TRPM3_ENST00000377105.1_Missense_Mutation_p.R435H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	601					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			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						GAAGCGCTTGCGCGTGTAGTT	0.597																																						ENST00000377110.2																			0				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						c.(1726-1728)cGc>cAc		transient receptor potential cation channel, subfamily M, member 3							41	42	41					9																	73240153		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73240153C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1727G>A	9.37:g.73240153C>T	ENSP00000366315:p.Arg576His					TRPM3_ENST00000377105.1_Missense_Mutation_p.R435H|TRPM3_ENST00000360823.2_Missense_Mutation_p.R448H|TRPM3_ENST00000396292.4_Missense_Mutation_p.R448H|TRPM3_ENST00000357533.2_Missense_Mutation_p.R590H|TRPM3_ENST00000377111.2_Missense_Mutation_p.R576H|TRPM3_ENST00000396285.1_Missense_Mutation_p.R423H|TRPM3_ENST00000423814.3_Missense_Mutation_p.R603H|TRPM3_ENST00000377106.1_Missense_Mutation_p.R448H|TRPM3_ENST00000358082.3_Missense_Mutation_p.R448H|TRPM3_ENST00000408909.2_Missense_Mutation_p.R435H|TRPM3_ENST00000396280.5_Missense_Mutation_p.R435H	p.R576H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			13	1970	-			601					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.1727G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.580715	0.96565	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.87958	0.6309	M	0.80982	2.52	0.54753	D	0.999988	D;D;D;D;D;D;D;D	0.89917	1.0;0.995;1.0;0.999;1.0;1.0;0.999;0.994	D;P;D;D;D;D;D;P	0.91635	0.979;0.796;0.972;0.931;0.97;0.999;0.954;0.836	D	0.88033	0.2776	10	0.87932	D	0	-19.9978	20.5596	0.99324	0.0:1.0:0.0:0.0	.	576;576;576;590;448;435;558;423	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	H	576;576;448;448;435;590;435;423;448;448;603	ENSP00000366315:R576H;ENSP00000366314:R576H;ENSP00000366310:R448H;ENSP00000354066:R448H;ENSP00000366309:R435H;ENSP00000350140:R590H;ENSP00000386127:R435H;ENSP00000379581:R423H;ENSP00000379587:R448H;ENSP00000350791:R448H;ENSP00000389542:R603H	ENSP00000350140:R590H	R	-	2	0	TRPM3	72429973	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.607000	0.82883	2.868000	0.98415	0.555000	0.69702	CGC		0.597	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		9	15	0	0	0	1	0	9	15					T	73240153	C	T	73240153	3	4	480	1	0	0	0	0	1	0	0	0	16584	768	27	1	3448	1	TRPM3	9	73240153	Missense_Mutation	SNP	C	TCGA-ZG-A9L0-01A-11D-A41K-08		73240153	67973278	22	32178											
RMI1	80010	broad.mit.edu	37	chr9	86615978	86615978	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaagtacctccgatgtGgctggaagcttgtattaact	10	14	10	7	1	0	0	0	0	0	0	1	2	1	1	2	2	3	5	2	2	6	5			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr9:86615978G>C	ENST00000325875.3	+	3	409	c.77G>C	c.(76-78)tGg>tCg	p.W26S		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	26					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CCTCCGATGTGGCTGGAAGCT	0.348																																						ENST00000325875.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(76-78)tGg>tCg		RecQ mediated genome instability 1							106	115	112					9																	86615978		2203	4300	6503	SO:0001583	missense	80010				DNA replication	nucleus		g.chr9:86615978G>C	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"BLM-Associated Polypeptide, 75 kDa"	610404	"chromosome 9 open reading frame 76", "RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.77G>C	9.37:g.86615978G>C	ENSP00000317039:p.Trp26Ser						p.W26S	NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN			3	409	+			26					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	c.77G>C	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621802	0.66787	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.54866	0.55;0.55	5.87	5.87	0.94306	Domain of unknown function DUF1767 (1);	0.000000	0.85682	D	0.000000	T	0.77110	0.4082	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78147	-0.2317	10	0.72032	D	0.01	1.5403	20.5827	0.99408	0.0:0.0:1.0:0.0	.	26	Q9H9A7	RMI1_HUMAN	S	26	ENSP00000402433:W26S;ENSP00000317039:W26S	ENSP00000317039:W26S	W	+	2	0	RMI1	85805798	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.515000	0.90548	2.941000	0.99782	0.655000	0.94253	TGG		0.348	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		4	105	0	0	0	1	0	4	105					C	86615978	G	C	86615978	3	2	480	1	0	0	0	0	1	0	0	0	13395	1357	47	5	79	5	RMI1	9	86615978	Missense_Mutation	SNP	G	TCGA-ZG-A9L0-01A-11D-A41K-08	13375825	86615978	54597453	23	32179											
CYP2C18	1562	broad.mit.edu	37	chr10	96448025	96448025	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtggaggagttgagaaaaAccaatggtgggtgacttttt	11	13	14	3	0	0	2	0	2	0	1	0	5	0	4	1	4	1	1	1	4	3	4			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr10:96448025A>C	ENST00000285979.6	+	3	674	c.475A>C	c.(475-477)Acc>Ccc	p.T159P	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.T159P	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	159					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.T159P(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	GTTGAGAAAAACCAATGGTGG	0.383																																						ENST00000285979.6																			1	Substitution - Missense(1)	p.T159P(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(475-477)Acc>Ccc		cytochrome P450, family 2, subfamily C, polypeptide 18							102	102	102					10																	96448025		2203	4300	6503	SO:0001583	missense	1562							g.chr10:96448025A>C	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.475A>C	10.37:g.96448025A>C	ENSP00000285979:p.Thr159Pro					CYP2C18_ENST00000339022.5_Missense_Mutation_p.T159P|CYP2C19_ENST00000464755.1_3'UTR	p.T159P	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	3	674	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.475A>C	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	a	14.44	2.535532	0.45176	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.69435	-0.4;-0.4	4.54	1.89	0.25635	.	0.812696	0.10856	U	0.626675	T	0.78272	0.4257	M	0.82193	2.58	0.09310	N	1	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.919	T	0.63449	-0.6635	10	0.87932	D	0	.	1.4661	0.02406	0.5502:0.1769:0.1015:0.1713	.	159;159	Q4VAT5;P33260	.;CP2CI_HUMAN	P	159	ENSP00000341293:T159P;ENSP00000285979:T159P	ENSP00000285979:T159P	T	+	1	0	CYP2C18	96438015	0.000000	0.05858	0.984000	0.44739	0.865000	0.49528	1.067000	0.30616	0.547000	0.28938	0.255000	0.18592	ACC		0.383	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		44	49	0	0	0	1	0	44	49					C	96448025	A	C	96448025	3	2	480	1	0	0	0	0	1	0	0	0	4165	43	2	5	485	5	CYP2C18	10	96448025	Missense_Mutation	SNP	A	TCGA-ZG-A9L0-01A-11D-A41K-08		96448025	39086722	24	32180											
ATRNL1	26033	broad.mit.edu	37	chr10	116919908	116919908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcacataaagcagttttaCacgggaaatttatgtgggtg	12	13	10	6	1	1	0	1	0	0	0	1	1	1	1	0	2	2	2	0	2	5	6			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr10:116919908C>T	ENST00000355044.3	+	6	1063	c.937C>T	c.(937-939)Cac>Tac	p.H313Y	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.H313Y	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	313					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGCAGTTTTACACGGGAAATT	0.368																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(937-939)Cac>Tac		attractin-like 1							218	225	222					10																	116919908		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:116919908C>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.937C>T	10.37:g.116919908C>T	ENSP00000347152:p.His313Tyr					ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.H313Y	p.H313Y	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	6	1063	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	313					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.937C>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	7.991	0.753309	0.15778	.	.	ENSG00000107518	ENST00000526946;ENST00000355044	T;T	0.65178	1.55;-0.14	5.83	4.0	0.46444	.	0.316750	0.39834	N	0.001252	T	0.47875	0.1469	L	0.43152	1.355	0.80722	D	1	B;B;B	0.18863	0.031;0.002;0.019	B;B;B	0.17722	0.009;0.002;0.019	T	0.36648	-0.9739	10	0.02654	T	1	-17.6	11.3751	0.49724	0.0:0.8593:0.0:0.1407	.	246;313;313	E9PL90;Q5VV63;Q5VV63-2	.;ATRN1_HUMAN;.	Y	246;313	ENSP00000431423:H246Y;ENSP00000347152:H313Y	ENSP00000347152:H313Y	H	+	1	0	ATRNL1	116909898	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	4.053000	0.57427	0.826000	0.34661	-0.234000	0.12200	CAC		0.368	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		19	97	0	0	0	1	0	19	97					T	116919908	C	T	116919908	3	4	480	1	0	0	0	0	1	0	0	0	1207	478	17	3	959	3	ATRNL1	10	116919908	Missense_Mutation	SNP	C	TCGA-ZG-A9L0-01A-11D-A41K-08	20471883	116919908	18614839	25	32181											
SOX6	55553	broad.mit.edu	37	chr11	16007827	16007827	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaatccgaagctttttGccatcaacaatgcaggtgcg	10	10	8	13	2	1	0	1	0	0	0	3	1	3	0	4	1	5	2	4	1	4	2			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr11:16007827G>A	ENST00000352083.6	-	15	2183	c.2106C>T	c.(2104-2106)ggC>ggT	p.G702G	SOX6_ENST00000528252.1_Silent_p.G675G|SOX6_ENST00000527619.1_Silent_p.G678G|SOX6_ENST00000316399.6_Silent_p.G682G|SOX6_ENST00000396356.3_Silent_p.G682G|SOX6_ENST00000528429.1_Silent_p.G702G			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	702					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GAAGCTTTTTGCCATCAACAA	0.458																																						ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(2104-2106)ggC>ggT		SRY (sex determining region Y)-box 6							216	204	208					11																	16007827		2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16007827G>A	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.2106C>T	11.37:g.16007827G>A						SOX6_ENST00000527619.1_Silent_p.G678G|SOX6_ENST00000316399.6_Silent_p.G682G|SOX6_ENST00000528429.1_Silent_p.G702G|SOX6_ENST00000396356.3_Silent_p.G682G|SOX6_ENST00000528252.1_Silent_p.G675G	p.G702G			P35712	SOX6_HUMAN			15	2183	-			702					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.2106C>T																																																																																					0.458	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		49	116	0	0	0	1	0	49	116					A	16007827	G	A	16007827	2	1	480	1	0	0	0	0	0	0	0	1	14955	1306	46	3		3	SOX6	11	16007827	Silent	SNP	G	TCGA-ZG-A9L0-01A-11D-A41K-08		16007827	118998689	26	32182											
GRIA4	2893	broad.mit.edu	37	chr11	105789611	105789611	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggatgcagacacaaaaatCtggaatgggatggtaggaga	16	6	15	4	0	1	2	0	0	1	2	1	6	1	5	0	5	1	2	0	5	4	1			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr11:105789611C>A	ENST00000530497.1	+	10	1443	c.1443C>A	c.(1441-1443)atC>atA	p.I481I	GRIA4_ENST00000282499.5_Silent_p.I481I|GRIA4_ENST00000393127.2_Silent_p.I481I|GRIA4_ENST00000525187.1_Silent_p.I481I			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	481					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			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)		ACACAAAAATCTGGAATGGGA	0.368																																						ENST00000393127.2																			0				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						c.(1441-1443)atC>atA		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						110	106	108					11																	105789611		2202	4299	6501	SO:0001819	synonymous_variant	0				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	g.chr11:105789611C>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1443C>A	11.37:g.105789611C>A						GRIA4_ENST00000530497.1_Silent_p.I481I|GRIA4_ENST00000525187.1_Silent_p.I481I|GRIA4_ENST00000282499.5_Silent_p.I481I	p.I481I	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	11	1889	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	481					Q86XE8	Silent	SNP	ENST00000530497.1	37	c.1443C>A	CCDS8333.1																																																																																				0.368	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			6	33	1	0	0.00307968	1	0.0033758	6	33					A	105789611	C	A	105789611	2	1	480	1	0	0	0	0	0	0	0	1	6770	903	32	5		5	GRIA4	11	105789611	Silent	SNP	C	TCGA-ZG-A9L0-01A-11D-A41K-08	89781784	105789611	29216905	27	32183											
MLL2	8085	broad.mit.edu	37	chr12	49434024	49434024	+	Frame_Shift_Del	DEL	A	A	-																															tggggggctgcccacttgggAccttggcatggagctcacct																										TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr12:49434024delA	ENST00000301067.7	-	31	7528	c.7529delT	c.(7528-7530)gtcfs	p.V2510fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2510	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCCACTTGGGACCTTGGCATG	0.652																																						ENST00000301067.7																			0											c.(7528-7530)gcfs		lysine (K)-specific methyltransferase 2D							15	18	17					12																	49434024		1863	4069	5932	SO:0001589	frameshift_variant	8085							g.chr12:49434024delA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7529delT	12.37:g.49434024delA	ENSP00000301067:p.Val2510fs						p.V2510fs	NM_003482.3	NP_003473.3					31	7528	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.7529delT	CCDS44873.1																																																																																				0.652	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			10	19						10	19	---	---	---	---	-	49434024	A	-	49434024	7	5	480	1	0	1	0	1	0	0	0	0	9621	275	10	0	9180	0	MLL2	12	49434024	Frame_Shift_Del	DEL	A	TCGA-ZG-A9L0-01A-11D-A41K-08		49434024	84417871	28	32184											
PPP1R12A	4659	broad.mit.edu	37	chr12	80182523	80182523	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagagcgacccagcaaggAatcatatcgatcaccagctg	13	6	9	13	2	2	1	2	0	0	1	4	4	3	2	3	1	3	2	3	1	3	1			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr12:80182523A>C	ENST00000450142.2	-	21	2973	c.2707T>G	c.(2707-2709)Tcc>Gcc	p.S903A	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.S903A|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.S903A|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.S816A|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.S847A	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	903					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CCCAGCAAGGAATCATATCGA	0.343																																						ENST00000450142.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						c.(2707-2709)Tcc>Gcc		protein phosphatase 1, regulatory subunit 12A							52	50	50					12																	80182523		1819	4080	5899	SO:0001583	missense	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80182523A>C	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2707T>G	12.37:g.80182523A>C	ENSP00000389168:p.Ser903Ala					PPP1R12A_ENST00000546369.1_Missense_Mutation_p.S816A|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.S903A|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.S847A|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.S903A	p.S903A	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN			21	2973	-			903					B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	c.2707T>G	CCDS44947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.24|13.24	2.176916|2.176916	0.38413|0.38413	.|.	.|.	ENSG00000058272|ENSG00000058272	ENST00000550299|ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107	.|T;T;T;T;T	.|0.37584	.|1.19;1.19;1.27;1.23;1.19	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|0.272209	.|0.43260	.|D	.|0.000581	T|T	0.27454|0.27454	0.0674|0.0674	L|L	0.28608|0.28608	0.87|0.87	0.44247|0.44247	D|D	0.997098|0.997098	.|B;P;B	.|0.51933	.|0.184;0.949;0.116	.|B;B;B	.|0.43575	.|0.08;0.424;0.036	T|T	0.03493|0.03493	-1.1031|-1.1031	5|10	.|0.22706	.|T	.|0.39	.|.	10.6992|10.6992	0.45918|0.45918	0.9293:0.0:0.0707:0.0|0.9293:0.0:0.0707:0.0	.|.	.|903;847;903	.|O14974-2;O14974-3;O14974	.|.;.;MYPT1_HUMAN	M|A	85|903;903;903;847;844;903;903;816;847	.|ENSP00000261207:S903A;ENSP00000389168:S903A;ENSP00000416769:S903A;ENSP00000449514:S816A;ENSP00000446855:S847A	.|ENSP00000261207:S903A	I|S	-|-	3|1	3|0	PPP1R12A|PPP1R12A	78706654|78706654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.839000|1.839000	0.39220|0.39220	2.275000|2.275000	0.75901|0.75901	0.528000|0.528000	0.53228|0.53228	ATT|TCC		0.343	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		12	20	0	0	0	1	0	12	20					C	80182523	A	C	80182523	3	2	480	1	0	0	0	0	1	0	0	0	12354	246	9	5	405	5	PPP1R12A	12	80182523	Missense_Mutation	SNP	A	TCGA-ZG-A9L0-01A-11D-A41K-08	30748499	80182523	53669372	29	32185											
SERPINA3	12	broad.mit.edu	37	chr14	95081101	95081101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctcaagttcaacctcaCggagacttctgaggcagaaa	13	7	10	11	1	4	3	3	1	1	2	4	4	4	3	2	3	1	2	2	3	3	2	rs375245228		TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr14:95081101C>T	ENST00000467132.1	+	2	1471	c.323C>T	c.(322-324)aCg>aTg	p.T108M	SERPINA3_ENST00000393080.4_Missense_Mutation_p.T108M|SERPINA3_ENST00000393078.3_Missense_Mutation_p.T108M|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_5'Flank			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	108					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T108M(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TTCAACCTCACGGAGACTTCT	0.552																																						ENST00000553947.1																			1	Substitution - Missense(1)	p.T108M(1)	large_intestine(1)	NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40						c.(397-399)aCg>aTg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3		C	MET/THR	0,4406		0,0,2203	64	66	65		323	3.1	0.7	14		65	4,8596	3.7+/-12.6	0,4,4296	no	missense	SERPINA3	NM_001085.4	81	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	108/424	95081101	4,13002	2203	4300	6503	SO:0001583	missense	12				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	g.chr14:95081101C>T	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.323C>T	14.37:g.95081101C>T	ENSP00000450540:p.Thr108Met					SERPINA3_ENST00000393078.3_Missense_Mutation_p.T108M|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000467132.1_Missense_Mutation_p.T108M|SERPINA3_ENST00000393080.4_Missense_Mutation_p.T108M	p.T133M			P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	5	1286	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	108					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.398C>T	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235029	0.39498	0.0	4.65E-4	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.03	3.07	0.35406	Serpin domain (3);	0.164548	0.41396	N	0.000884	D	0.93086	0.7799	M	0.83692	2.655	0.28931	N	0.891554	D;P	0.63880	0.993;0.912	D;P	0.67548	0.952;0.542	D	0.87687	0.2551	10	0.87932	D	0	.	8.7412	0.34558	0.1496:0.7705:0.0:0.08	.	108;133	P01011;G3V5I3	AACT_HUMAN;.	M	133;108;108;108;108	ENSP00000452367:T133M;ENSP00000376793:T108M;ENSP00000376795:T108M;ENSP00000450540:T108M	ENSP00000376793:T108M	T	+	2	0	SERPINA3	94150854	0.051000	0.20477	0.696000	0.30242	0.124000	0.20399	1.399000	0.34566	1.235000	0.43724	0.561000	0.74099	ACG		0.552	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		28	32	0	0	0	1	0	28	32					T	95081101	C	T	95081101	3	4	480	1	0	0	0	0	1	0	0	0	14090	536	19	1	325	1	SERPINA3	14	95081101	Missense_Mutation	SNP	C	TCGA-ZG-A9L0-01A-11D-A41K-08		95081101	12268439	30	32186											
CCNK	8812	broad.mit.edu	37	chr14	99969193	99969193	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacagcagtcacagccgtctCaaagctccgaaccatcccag	12	6	7	16	2	2	0	2	0	1	0	5	1	4	0	4	0	5	2	4	0	3	1			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr14:99969193C>G	ENST00000389879.5	+	8	1006	c.883C>G	c.(883-885)Caa>Gaa	p.Q295E	CCNK_ENST00000555049.1_Missense_Mutation_p.Q295E	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	295					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ACAGCCGTCTCAAAGCTCCGA	0.602																																						ENST00000389879.5																			0				NS(1)|endometrium(2)|lung(3)	6						c.(883-885)Caa>Gaa		cyclin K							103	133	123					14																	99969193		2141	4254	6395	SO:0001583	missense	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99969193C>G	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.883C>G	14.37:g.99969193C>G	ENSP00000374529:p.Gln295Glu					CCNK_ENST00000555049.1_Missense_Mutation_p.Q295E	p.Q295E	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN			8	1006	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	295					Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	ENST00000389879.5	37	c.883C>G	CCDS45160.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154496	0.38021	.	.	ENSG00000090061	ENST00000437596;ENST00000216279;ENST00000380246;ENST00000389879;ENST00000555049	T;D	0.91351	2.22;-2.83	5.71	5.71	0.89125	.	0.420434	0.25543	N	0.029943	D	0.88097	0.6345	L	0.57536	1.79	0.09310	N	0.999998	B;B	0.19200	0.008;0.034	B;B	0.21151	0.016;0.033	T	0.70536	-0.4845	10	0.02654	T	1	-6.046	19.8677	0.96824	0.0:1.0:0.0:0.0	.	295;295	O75909;O75909-2	CCNK_HUMAN;.	E	295;297;297;295;295	ENSP00000374529:Q295E;ENSP00000452307:Q295E	ENSP00000216279:Q297E	Q	+	1	0	CCNK	99038946	0.993000	0.37304	0.010000	0.14722	0.152000	0.21847	5.344000	0.65981	2.709000	0.92574	0.655000	0.94253	CAA		0.602	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1			14	37	0	0	0	1	0	14	37					G	99969193	C	G	99969193	3	3	480	1	0	0	0	0	1	0	0	0	2930	827	29	5	909	5	CCNK	14	99969193	Missense_Mutation	SNP	C	TCGA-ZG-A9L0-01A-11D-A41K-08	4888092	99969193	7380347	31	32187											
NARFL	64428	broad.mit.edu	37	chr16	784748	784748	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagcacacctgggcaggcaGaggccagcaggggcagcgcc	9	2	17	13	1	0	2	0	1	0	1	0	2	0	2	3	5	3	5	3	5	0	0			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr16:784748G>C	ENST00000251588.2	-	5	579	c.563C>G	c.(562-564)tCt>tGt	p.S188C	NARFL_ENST00000562862.1_5'Flank|HAGHL_ENST00000569604.1_3'UTR|NARFL_ENST00000540986.1_Missense_Mutation_p.S86C|NARFL_ENST00000301694.5_Missense_Mutation_p.L144V|NARFL_ENST00000568545.1_Missense_Mutation_p.S86C	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	188					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				TGGGCAGGCAGAGGCCAGCAG	0.607																																						ENST00000540986.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)	9						c.(256-258)tCt>tGt		nuclear prelamin A recognition factor-like							75	86	82					16																	784748		2199	4300	6499	SO:0001583	missense	64428				iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	g.chr16:784748G>C	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 1"	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.563C>G	16.37:g.784748G>C	ENSP00000251588:p.Ser188Cys					NARFL_ENST00000301694.5_Missense_Mutation_p.L144V|NARFL_ENST00000251588.2_Missense_Mutation_p.S188C|NARFL_ENST00000568545.1_Missense_Mutation_p.S86C|HAGHL_ENST00000569604.1_3'UTR	p.S86C			Q9H6Q4	NARFL_HUMAN			4	1692	-		Hepatocellular(780;0.0218)	188					A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Missense_Mutation	SNP	ENST00000251588.2	37	c.257C>G	CCDS10425.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.01|15.01	2.707527|2.707527	0.48412|0.48412	.|.	.|.	ENSG00000103245|ENSG00000103245	ENST00000301694|ENST00000251588;ENST00000540986	T|T;T	0.33865|0.62639	1.39|0.01;0.01	5.13|5.13	5.13|5.13	0.70059|0.70059	.|Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	.|0.051957	.|0.85682	.|D	.|0.000000	D|D	0.87261|0.87261	0.6133|0.6133	H|H	0.98256|0.98256	4.185|4.185	0.80722|0.80722	D|D	1|1	B;B|D	0.34015|0.89917	0.435;0.045|1.0	B;B|D	0.32805|0.97110	0.153;0.061|1.0	D|D	0.92195|0.92195	0.5763|0.5763	9|10	0.07482|0.87932	T|D	0.82|0	-0.6414|-0.6414	17.5595|17.5595	0.87902|0.87902	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	144;144|188	B4DT78;B4DEE7|Q9H6Q4	.;.|NARFL_HUMAN	V|C	144|188;86	ENSP00000301694:L144V|ENSP00000251588:S188C;ENSP00000444008:S86C	ENSP00000301694:L144V|ENSP00000251588:S188C	L|S	-|-	1|2	2|0	NARFL|NARFL	724749|724749	1.000000|1.000000	0.71417|0.71417	0.339000|0.339000	0.25562|0.25562	0.258000|0.258000	0.26162|0.26162	9.309000|9.309000	0.96252|0.96252	2.395000|2.395000	0.81488|0.81488	0.491000|0.491000	0.48974|0.48974	CTG|TCT		0.607	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493		42	50	0	0	0	1	0	42	50					C	784748	G	C	784748	3	2	480	1	0	0	0	0	1	0	0	0	10168	942	33	5	895	5	NARFL	16	784748	Missense_Mutation	SNP	G	TCGA-ZG-A9L0-01A-11D-A41K-08		784748	89570005	32	32188											
VASN	114990	broad.mit.edu	37	chr16	4432596	4432597	+	Frame_Shift_Ins	INS	-	-	C																															acccaggcccgcgagggcaaINScctgccgctcctcattgcgc																								rs76495149		TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr16:4432596_4432597insC	ENST00000304735.3	+	2	1873_1874	c.1718_1719insC	c.(1717-1722)aacctgfs	p.L574fs	CORO7_ENST00000537233.2_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000251166.4_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	574					cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)	p.N573T(1)		breast(1)|lung(3)|prostate(1)|skin(1)	6						CGCGAGGGCAACCTGCCGCTCC	0.772																																						ENST00000304735.3																			1	Substitution - Missense(1)	p.N573T(1)	prostate(1)	breast(1)|lung(3)|prostate(1)|skin(1)	6						c.(1717-1719)actfs		vasorin																																				SO:0001589	frameshift_variant	114990					extracellular region|integral to membrane		g.chr16:4432596_4432597insC	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"slit-like 2 (Drosophila)"	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.1720dupC	16.37:g.4432598_4432598dupC	ENSP00000306864:p.Leu574fs					CORO7_ENST00000537233.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000539968.1_Intron	p.T573fs	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN			2	1873_1874	+			573					Q6UXL4|Q6UXL5|Q96CX1	Frame_Shift_Ins	INS	ENST00000304735.3	37	c.1718_1719insC	CCDS10514.1																																																																																				0.772	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		2	4						2	4	---	---	---	---	C	4432597	-	C	4432596	7	5	480	1	0	1	1	0	0	0	0	0	17124	43	2	0	1720	0	VASN	16	4432596	Frame_Shift_Ins	INS	-	TCGA-ZG-A9L0-01A-11D-A41K-08	3647848	4432596	85922157	33	32189											
TP53	7157	broad.mit.edu	37	chr17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggcctcattcagctctcGgaacatctcgaagcgctcac	10	8	8	15	3	5	0	3	0	2	0	7	2	5	1	1	2	3	2	1	2	3	1			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(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)	Acetylsalicylic acid(DB00945)	TTCAGCTCTCGGAACATCTCG	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(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	GRCh37	CM004908	TP53	M		c.(1024-1026)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							62	48	53					17																	7574003		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574003G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*	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)				TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR	p.R342*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1213	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	342		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1024C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	10	0	0	0	1	0	8	10					A	7574003	G	A	7574003	4	1	480	1	0	0	0	0	0	1	0	0	16378	1124	39	2	165	2	TP53	17	7574003	Nonsense_Mutation	SNP	G	TCGA-ZG-A9L0-01A-11D-A41K-08		7574003	73621207	34	32190											
TMEM106A	113277	broad.mit.edu	37	chr17	41367895	41367895	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccccggtccgtcattgtgCagcctgcaggcctcaactcc	5	10	9	17	2	2	0	2	0	0	0	5	0	5	0	6	2	4	2	6	2	1	2			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr17:41367895C>A	ENST00000331615.3	+	5	601	c.364C>A	c.(364-366)Cag>Aag	p.Q122K	TMEM106A_ENST00000588659.1_Missense_Mutation_p.Q122K|TMEM106A_ENST00000541594.1_Missense_Mutation_p.Q74K|TMEM106A_ENST00000536052.1_Missense_Mutation_p.Q122K|LINC00854_ENST00000427995.1_RNA|TMEM106A_ENST00000592564.1_3'UTR	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	122						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		CGTCATTGTGCAGCCTGCAGG	0.567																																						ENST00000331615.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(364-366)Cag>Aag		transmembrane protein 106A							261	231	241					17																	41367895		2203	4296	6499	SO:0001583	missense	113277					integral to membrane		g.chr17:41367895C>A	AK056132	CCDS11462.1, CCDS74073.1	17q21.31	2012-01-23			ENSG00000184988	ENSG00000184988			28288	protein-coding gene	gene with protein product							Standard	XM_006721658		Approved	MGC20235	uc002idn.1	Q96A25		ENST00000331615.3:c.364C>A	17.37:g.41367895C>A	ENSP00000330774:p.Gln122Lys					TMEM106A_ENST00000588659.1_Missense_Mutation_p.Q122K|TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000541594.1_Missense_Mutation_p.Q74K|TMEM106A_ENST00000536052.1_Missense_Mutation_p.Q122K	p.Q122K	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	5	601	+		Breast(137;0.0164)	122					A8K2X2|B7Z698	Missense_Mutation	SNP	ENST00000331615.3	37	c.364C>A	CCDS11462.1	.	.	.	.	.	.	.	.	.	.	C	1.531	-0.544253	0.04024	.	.	ENSG00000184988	ENST00000331615;ENST00000536052;ENST00000541594	T;T;T	0.21031	2.03;2.03;2.03	5.53	3.5	0.40072	.	0.744748	0.13426	N	0.388787	T	0.13243	0.0321	L	0.39898	1.24	0.25295	N	0.989324	B;B;B	0.34181	0.44;0.089;0.44	B;B;B	0.31946	0.138;0.098;0.138	T	0.19647	-1.0299	10	0.02654	T	1	9.1062	7.7182	0.28717	0.0:0.7481:0.1644:0.0875	.	122;74;122	B7Z779;B7Z698;Q96A25	.;.;T106A_HUMAN	K	122;122;74	ENSP00000330774:Q122K;ENSP00000439835:Q122K;ENSP00000439844:Q74K	ENSP00000330774:Q122K	Q	+	1	0	TMEM106A	38723421	0.210000	0.23517	0.978000	0.43139	0.436000	0.31835	0.296000	0.19083	0.791000	0.33826	0.655000	0.94253	CAG		0.567	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453470.2	NM_145041		41	158	1	0	8.16277e-20	1	1.03395e-19	41	158					A	41367895	C	A	41367895	3	1	480	1	0	0	0	0	1	0	0	0	16017	711	25	5	374	5	TMEM106A	17	41367895	Missense_Mutation	SNP	C	TCGA-ZG-A9L0-01A-11D-A41K-08	33793892	41367895	39827315	35	32191											
HELZ	9931	broad.mit.edu	37	chr17	65083153	65083153	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttgaactgagctagatgaGattcttctttggtacaaggg	10	13	13	5	0	2	4	0	3	2	2	2	5	2	4	0	3	3	3	0	3	4	6			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr17:65083153G>A	ENST00000358691.5	-	32	5452	c.5286C>T	c.(5284-5286)atC>atT	p.I1762I	HELZ_ENST00000580168.1_Silent_p.I1763I	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1762						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)					AGCTAGATGAGATTCTTCTTT	0.443																																						ENST00000358691.5																			0				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						c.(5284-5286)atC>atT		helicase with zinc finger							80	79	79					17																	65083153		1918	4129	6047	SO:0001819	synonymous_variant	9931							g.chr17:65083153G>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5286C>T	17.37:g.65083153G>A						HELZ_ENST00000580168.1_Silent_p.I1763I	p.I1762I	NM_014877.3	NP_055692.2					32	5452	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Silent	SNP	ENST00000358691.5	37	c.5286C>T	CCDS42374.1																																																																																				0.443	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		8	35	0	0	0	1	0	8	35					A	65083153	G	A	65083153	2	1	480	1	0	0	0	0	0	0	0	1	7049	932	33	3		3	HELZ	17	65083153	Silent	SNP	G	TCGA-ZG-A9L0-01A-11D-A41K-08	23715258	65083153	16112057	36	32192											
C17orf80	55028	broad.mit.edu	37	chr17	71232151	71232151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgtctttactggttggctCaatagaaccttctttgtcaa	9	15	8	9	1	4	1	2	0	2	1	4	1	4	1	1	2	3	2	1	2	5	6			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr17:71232151C>T	ENST00000535032.2	+	2	643	c.530C>T	c.(529-531)tCa>tTa	p.S177L	C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.S177L|C17orf80_ENST00000577615.1_Missense_Mutation_p.S177L|C17orf80_ENST00000255557.4_Missense_Mutation_p.S177L|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000359042.2_Missense_Mutation_p.S177L|C17orf80_ENST00000426147.2_Missense_Mutation_p.S177L			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	177						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			CTGGTTGGCTCAATAGAACCT	0.378																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(529-531)tCa>tTa		chromosome 17 open reading frame 80							77	81	80					17																	71232151		2203	4300	6503	SO:0001583	missense	55028					integral to membrane		g.chr17:71232151C>T	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"sperm-expressed protein 1", "migration-inducing protein 3"					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.530C>T	17.37:g.71232151C>T	ENSP00000440551:p.Ser177Leu					FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.S177L|C17orf80_ENST00000577615.1_Missense_Mutation_p.S177L|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.S177L|C17orf80_ENST00000535032.2_Missense_Mutation_p.S177L|C17orf80_ENST00000255557.4_Missense_Mutation_p.S177L	p.S177L	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	724	+			177					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Missense_Mutation	SNP	ENST00000535032.2	37	c.530C>T	CCDS11694.1	.	.	.	.	.	.	.	.	.	.	C	31	5.073459	0.94000	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	4.81	4.81	0.61882	.	0.667620	0.13391	N	0.391427	T	0.38825	0.1055	L	0.38175	1.15	0.25570	N	0.986902	P;P;D;D	0.57899	0.949;0.949;0.976;0.981	P;P;P;P	0.54174	0.52;0.6;0.743;0.744	T	0.20672	-1.0268	10	0.72032	D	0.01	-6.4758	13.7689	0.63012	0.0:1.0:0.0:0.0	.	177;177;177;177	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	L	177	ENSP00000255557:S177L;ENSP00000351937:S177L;ENSP00000268942:S177L;ENSP00000396970:S177L;ENSP00000440551:S177L	ENSP00000255557:S177L	S	+	2	0	C17orf80	68743746	0.000000	0.05858	0.065000	0.19835	0.891000	0.51852	0.383000	0.20651	2.376000	0.81061	0.561000	0.74099	TCA		0.378	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		11	59	0	0	0	1	0	11	59					T	71232151	C	T	71232151	3	4	480	1	0	0	0	0	1	0	0	0	1885	838	29	3	532	3	C17orf80	17	71232151	Missense_Mutation	SNP	C	TCGA-ZG-A9L0-01A-11D-A41K-08	6148998	71232151	9963059	37	32193											
ZFP36	7538	broad.mit.edu	37	chr19	39899003	39899003	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccagctccttctcgccCtccagctccccaccaccacc	5	8	3	25	1	1	0	0	0	1	0	7	0	6	0	10	0	2	2	10	0	0	1	rs149138506		TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr19:39899003C>G	ENST00000248673.3	+	2	703	c.645C>G	c.(643-645)ccC>ccG	p.P215P	ZFP36_ENST00000597629.1_Silent_p.P221P|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	215					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCTTCTCGCCCTCCAGCTCCC	0.692																																					NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(661-663)ccC>ccG		ZFP36 ring finger protein		C		1,4399		0,1,2199	55	64	61		645	-2.5	0.9	19	dbSNP_134	61	0,8594		0,0,4297	no	coding-synonymous	ZFP36	NM_003407.2		0,1,6496	GG,GC,CC		0.0,0.0227,0.0077		215/327	39899003	1,12993	2200	4297	6497	SO:0001819	synonymous_variant	7538				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	g.chr19:39899003C>G	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"RING-type (C3HC4) zinc fingers"	12862	protein-coding gene	gene with protein product		190700	"zinc finger protein 36, C3H type, homolog (mouse)"			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.645C>G	19.37:g.39899003C>G						ZFP36_ENST00000248673.3_Silent_p.P215P	p.P221P			P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	737	+	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)		215					B2RA54	Silent	SNP	ENST00000248673.3	37	c.663C>G																																																																																					0.692	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				42	72	0	0	0	1	0	42	72					G	39899003	C	G	39899003	2	3	480	1	0	0	0	0	0	0	0	1	17642	668	24	5		5	ZFP36	19	39899003	Silent	SNP	C	TCGA-ZG-A9L0-01A-11D-A41K-08		39899003	19229980	38	32194											
ZNF578	147660	broad.mit.edu	37	chr19	53014268	53014268	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaataactatgggaataatTttttccattcatcattactc	13	17	3	8	0	2	0	2	0	0	0	4	1	3	1	1	1	2	0	1	1	6	9			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr19:53014268T>G	ENST00000421239.2	+	6	878	c.634T>G	c.(634-636)Ttt>Gtt	p.F212V	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGGGAATAATTTTTTCCATTC	0.363																																						ENST00000421239.2																			0											c.(634-636)Ttt>Gtt		zinc finger protein 578							65	68	67					19																	53014268		2201	4298	6499	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014268T>G	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.634T>G	19.37:g.53014268T>G	ENSP00000459216:p.Phe212Val						p.F212V	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	878	+			127					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.634T>G	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	14.44	2.534697	0.45073	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.42	0.149	0.14863	.	.	.	.	.	T	0.51363	0.1670	M	0.91872	3.25	0.09310	N	1	B	0.29531	0.247	B	0.28553	0.091	T	0.49312	-0.8953	7	.	.	.	.	6.1415	0.20263	0.0:0.0:0.2616:0.7384	.	212	G3V4F6	.	V	212	.	.	F	+	1	0	ZNF578	57706080	0.179000	0.23135	0.001000	0.08648	0.324000	0.28378	0.484000	0.22308	-0.174000	0.10743	0.113000	0.15668	TTT		0.363	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		27	45	0	0	0	1	0	27	45					G	53014268	T	G	53014268	3	3	480	1	0	0	0	0	1	0	0	0	18007	1841	64	5	644	5	ZNF578	19	53014268	Missense_Mutation	SNP	T	TCGA-ZG-A9L0-01A-11D-A41K-08	13115265	53014268	6114715	39	32195											
DNMT3B	1789	broad.mit.edu	37	chr20	31386422	31386422	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtgcgcctgcaggccttCttcaccagtgacacggggct	7	8	12	14	3	2	1	1	1	1	0	2	1	2	1	3	3	3	2	3	3	1	2			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr20:31386422C>A	ENST00000328111.2	+	15	1968	c.1647C>A	c.(1645-1647)ttC>ttA	p.F549L	DNMT3B_ENST00000344505.4_Missense_Mutation_p.F529L|DNMT3B_ENST00000353855.2_Missense_Mutation_p.F529L|DNMT3B_ENST00000201963.3_Missense_Mutation_p.F541L|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Missense_Mutation_p.F487L|DNMT3B_ENST00000456297.2_Missense_Mutation_p.F453L|DNMT3B_ENST00000348286.2_Missense_Mutation_p.F529L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	549	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			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						TGCAGGCCTTCTTCACCAGTG	0.607																																						ENST00000328111.2																			0				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						c.(1645-1647)ttC>ttA		DNA (cytosine-5-)-methyltransferase 3 beta							40	45	43					20																	31386422		2203	4300	6503	SO:0001583	missense	1789				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	g.chr20:31386422C>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1647C>A	20.37:g.31386422C>A	ENSP00000328547:p.Phe549Leu					DNMT3B_ENST00000456297.2_Missense_Mutation_p.F453L|DNMT3B_ENST00000353855.2_Missense_Mutation_p.F529L|DNMT3B_ENST00000348286.2_Missense_Mutation_p.F529L|DNMT3B_ENST00000201963.3_Missense_Mutation_p.F541L|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Missense_Mutation_p.F487L|DNMT3B_ENST00000344505.4_Missense_Mutation_p.F529L	p.F549L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			15	1968	+			549			ADD.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1647C>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.558998	0.65538	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.76	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.71126	0.3303	L	0.46947	1.48	0.80722	D	1	B;P;P;B;P;B;P	0.38767	0.261;0.646;0.456;0.087;0.639;0.087;0.534	B;B;B;B;B;B;B	0.42593	0.256;0.392;0.189;0.202;0.26;0.202;0.246	T	0.68812	-0.5310	10	0.37606	T	0.19	-33.4651	7.5147	0.27593	0.1364:0.7185:0.0:0.1452	.	453;487;248;541;529;529;549	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	L	549;529;529;487;453;529;541	ENSP00000328547:F549L;ENSP00000313397:F529L;ENSP00000337764:F529L;ENSP00000403169:F487L;ENSP00000412305:F453L;ENSP00000345105:F529L;ENSP00000201963:F541L	ENSP00000201963:F541L	F	+	3	2	DNMT3B	30850083	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.031000	0.41117	1.575000	0.49775	0.650000	0.86243	TTC		0.607	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		6	36	1	0	0.217242	1	0.225142	6	36					A	31386422	C	A	31386422	3	1	480	1	0	0	0	0	1	0	0	0	4677	912	32	5	1741	5	DNMT3B	20	31386422	Missense_Mutation	SNP	C	TCGA-ZG-A9L0-01A-11D-A41K-08		31386422	31639098	40	32196											
IFT52	51098	broad.mit.edu	37	chr20	42242496	42242496	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatttcttacagggctctCacctttgtgtatccttttgg	6	19	7	9	0	2	0	1	0	2	0	4	0	3	0	2	2	1	2	2	2	3	7			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr20:42242496C>A	ENST00000373030.3	+	7	622	c.492C>A	c.(490-492)ctC>ctA	p.L164L	IFT52_ENST00000373039.4_Silent_p.L164L	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	164					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			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)			ACAGGGCTCTCACCTTTGTGT	0.363																																						ENST00000373030.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21						c.(490-492)ctC>ctA		intraflagellar transport 52 homolog (Chlamydomonas)							104	99	100					20																	42242496		2203	4300	6503	SO:0001819	synonymous_variant	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42242496C>A	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"Intraflagellar transport homologs"	15901	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 9", "intraflagellar transport 52 homolog (Chlamydomonas)"	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.492C>A	20.37:g.42242496C>A						IFT52_ENST00000373039.4_Silent_p.L164L	p.L164L	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		7	622	+		Myeloproliferative disorder(115;0.00452)	164					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Silent	SNP	ENST00000373030.3	37	c.492C>A	CCDS33470.1																																																																																				0.363	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		9	71	1	0	1.76689e-08	1	2.14283e-08	9	71					A	42242496	C	A	42242496	2	1	480	1	0	0	0	0	0	0	0	1	7561	813	29	5		5	IFT52	20	42242496	Silent	SNP	C	TCGA-ZG-A9L0-01A-11D-A41K-08	10856074	42242496	20783024	41	32197											
R3HDML	140902	broad.mit.edu	37	chr20	42972025	42972025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcctccccaggtaccggtCcgtagtggatctcatgaagt	7	9	11	14	3	1	1	1	1	1	0	4	2	3	2	6	3	1	2	6	3	3	2			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr20:42972025C>A	ENST00000217043.2	+	3	561	c.389C>A	c.(388-390)tCc>tAc	p.S130Y	Y_RNA_ENST00000364493.1_RNA	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	130	SCP.					extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			AGGTACCGGTCCGTAGTGGAT	0.597																																						ENST00000217043.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21						c.(388-390)tCc>tAc		R3H domain containing-like							105	74	84					20																	42972025		2203	4300	6503	SO:0001583	missense	140902					extracellular region	peptidase inhibitor activity	g.chr20:42972025C>A	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing-like"				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.389C>A	20.37:g.42972025C>A	ENSP00000217043:p.Ser130Tyr						p.S130Y	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	561	+		Myeloproliferative disorder(115;0.028)	130						Missense_Mutation	SNP	ENST00000217043.2	37	c.389C>A	CCDS13329.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961284	0.34565	.	.	ENSG00000101074	ENST00000217043	T	0.10005	2.92	4.98	2.99	0.34606	CAP domain (3);	0.150631	0.45606	D	0.000345	T	0.39200	0.1069	H	0.94698	3.57	0.49582	D	0.999806	D	0.54047	0.964	P	0.58077	0.832	T	0.59032	-0.7530	10	0.87932	D	0	.	15.0867	0.72158	0.0:0.7304:0.2696:0.0	.	130	Q9H3Y0	CRSPL_HUMAN	Y	130	ENSP00000217043:S130Y	ENSP00000217043:S130Y	S	+	2	0	R3HDML	42405439	1.000000	0.71417	0.195000	0.23364	0.002000	0.02628	6.709000	0.74665	0.584000	0.29591	-0.172000	0.13284	TCC		0.597	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		4	42	1	0	1	1	1	4	42					A	42972025	C	A	42972025	3	1	480	1	0	0	0	0	1	0	0	0	12889	855	30	5	399	5	R3HDML	20	42972025	Missense_Mutation	SNP	C	TCGA-ZG-A9L0-01A-11D-A41K-08	729529	42972025	20053495	42	32198			1	51		2	2	12	C		1.670058e-05
R3HDML	140902	broad.mit.edu	37	chr20	42972036	42972036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaccggtccgtagtggatCtcatgaagtcctggtctgag	7	11	14	9	2	2	2	1	2	2	0	5	3	4	3	3	4	1	2	3	4	3	2			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr20:42972036C>A	ENST00000217043.2	+	3	572	c.400C>A	c.(400-402)Ctc>Atc	p.L134I	Y_RNA_ENST00000364493.1_RNA	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	134	SCP.					extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CGTAGTGGATCTCATGAAGTC	0.617																																						ENST00000217043.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21						c.(400-402)Ctc>Atc		R3H domain containing-like							118	81	94					20																	42972036		2203	4300	6503	SO:0001583	missense	140902					extracellular region	peptidase inhibitor activity	g.chr20:42972036C>A	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing-like"				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.400C>A	20.37:g.42972036C>A	ENSP00000217043:p.Leu134Ile						p.L134I	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	572	+		Myeloproliferative disorder(115;0.028)	134						Missense_Mutation	SNP	ENST00000217043.2	37	c.400C>A	CCDS13329.1	.	.	.	.	.	.	.	.	.	.	C	8.356	0.831964	0.16820	.	.	ENSG00000101074	ENST00000217043	T	0.09723	2.95	4.98	2.99	0.34606	CAP domain (3);	0.258737	0.28946	N	0.013640	T	0.09862	0.0242	L	0.48935	1.535	0.22926	N	0.99855	B	0.24258	0.1	B	0.28916	0.096	T	0.27739	-1.0065	10	0.21014	T	0.42	.	8.1922	0.31374	0.2801:0.643:0.0:0.0769	.	134	Q9H3Y0	CRSPL_HUMAN	I	134	ENSP00000217043:L134I	ENSP00000217043:L134I	L	+	1	0	R3HDML	42405450	0.999000	0.42202	0.096000	0.21009	0.004000	0.04260	4.002000	0.57053	1.203000	0.43233	-0.175000	0.13238	CTC		0.617	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		6	46	1	0	0.27861	1	0.283586	6	46					A	42972036	C	A	42972036	3	1	480	1	0	0	0	0	1	0	0	0	12889	913	32	5	410	5	R3HDML	20	42972036	Missense_Mutation	SNP	C	TCGA-ZG-A9L0-01A-11D-A41K-08	11	42972036	20053484	43	32199			1	51		2	2	12	C		1.670058e-05
MYH9	4627	broad.mit.edu	37	chr22	36715609	36715609	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcgggcatggacgcctGgtcagtgttccgctccttct	3	13	13	12	3	2	0	1	0	1	0	5	1	4	1	3	3	0	4	3	3	0	3			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chr22:36715609G>A	ENST00000216181.5	-	10	1314	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	362	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			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						ATGGACGCCTGGTCAGTGTTC	0.577			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				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						c.(1084-1086)Cag>Tag		myosin, heavy chain 9, non-muscle							102	84	90					22																	36715609		2203	4300	6503	SO:0001587	stop_gained	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	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	g.chr22:36715609G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1084C>T	22.37:g.36715609G>A	ENSP00000216181:p.Gln362*						p.Q362*	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			10	1314	-			362			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Nonsense_Mutation	SNP	ENST00000216181.5	37	c.1084C>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	41	8.967935	0.99019	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	.	.	.	5.23	5.23	0.72850	.	0.131674	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4837	0.90821	0.0:0.0:1.0:0.0	.	.	.	.	X	226;362	.	ENSP00000216181:Q362X	Q	-	1	0	MYH9	35045555	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.869000	0.99810	2.450000	0.82876	0.650000	0.86243	CAG		0.577	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		8	22	0	0	0	1	0	8	22					A	36715609	G	A	36715609	4	1	480	1	0	0	0	0	0	1	0	0	10042	1357	47	3	4926	3	MYH9	22	36715609	Nonsense_Mutation	SNP	G	TCGA-ZG-A9L0-01A-11D-A41K-08		36715609	14588957	44	32200											
KAL1	3730	broad.mit.edu	37	chrX	8503766	8503766	+	Frame_Shift_Del	DEL	A	A	-																															ggccttggccatcttccaagAaaagtgaccggtgatgttca																										TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chrX:8503766delA	ENST00000262648.3	-	12	1857	c.1708delT	c.(1708-1710)tctfs	p.S570fs	KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	570	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						ATCTTCCAAGAAAAGTGACCG	0.488																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(1708-1710)ctfs		Kallmann syndrome 1 sequence							127	98	108					X																	8503766		2203	4300	6503	SO:0001589	frameshift_variant	3730				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	g.chrX:8503766delA		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1708delT	X.37:g.8503766delA	ENSP00000262648:p.Ser570fs					KAL1_ENST00000481896.1_5'UTR	p.S570fs	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			12	1857	-			570			Fibronectin type-III 4.		B2RPF8	Frame_Shift_Del	DEL	ENST00000262648.3	37	c.1708delT	CCDS14130.1																																																																																				0.488	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		31	14						31	14	---	---	---	---	-	8503766	A	-	8503766	7	5	480	1	0	1	0	1	0	0	0	0	7974	246	9	0	346	0	KAL1	23	8503766	Frame_Shift_Del	DEL	A	TCGA-ZG-A9L0-01A-11D-A41K-08		8503766	146766794	45	32201											
ZMYM3	9203	broad.mit.edu	37	chrX	70461117	70461117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagaacttgacagggcagcGgaggggattcatgcggttct	10	9	15	7	2	2	2	1	1	1	1	2	4	2	4	0	5	3	2	0	5	2	4			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chrX:70461117G>A	ENST00000353904.2	-	24	4067	c.3880C>T	c.(3880-3882)Cgc>Tgc	p.R1294C	ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1204C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1294C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1296C|ZMYM3_ENST00000373998.1_Missense_Mutation_p.R1282C|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1294					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)					ACAGGGCAGCGGAGGGGATTC	0.507																																						ENST00000373998.1																			0				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						c.(3844-3846)Cgc>Tgc		zinc finger, MYM-type 3							127	102	110					X																	70461117		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70461117G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3880C>T	X.37:g.70461117G>A	ENSP00000343909:p.Arg1294Cys					ZMYM3_ENST00000353904.2_Missense_Mutation_p.R1294C|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1204C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1294C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1296C	p.R1282C	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			24	4541	-	Renal(35;0.156)		1294					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3844C>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.322604	0.81580	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.61510	0.68;0.1;0.68;0.9;0.67	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000003	T	0.75539	0.3863	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.79298	-0.1861	10	0.87932	D	0	-11.9563	17.1082	0.86669	0.0:0.0:1.0:0.0	.	1282;1294	Q14202-2;Q14202	.;ZMYM3_HUMAN	C	1294;1282;1294;1204;1296	ENSP00000322845:R1294C;ENSP00000363110:R1282C;ENSP00000343909:R1294C;ENSP00000363096:R1204C;ENSP00000363100:R1296C	ENSP00000322845:R1294C	R	-	1	0	ZMYM3	70377842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.013000	0.64023	2.218000	0.71995	0.594000	0.82650	CGC		0.507	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		13	8	0	0	0	1	0	13	8					A	70461117	G	A	70461117	3	1	480	1	0	0	0	0	1	0	0	0	17698	1116	39	2	240	2	ZMYM3	23	70461117	Missense_Mutation	SNP	G	TCGA-ZG-A9L0-01A-11D-A41K-08	61957351	70461117	84809443	46	32202											
ITM2A	9452	broad.mit.edu	37	chrX	78619050	78619050	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtggcaactcggagcTcctatttattaaaaagcaaa	13	10	9	9	1	0	0	0	0	0	0	2	1	1	1	2	3	3	3	2	3	7	4			TCGA-ZG-A9L0-01A-11D-A41K-08	TCGA-ZG-A9L0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed594b57-98b2-4fcf-b6a4-e507919e6b7d	b1de224d-ae13-4f56-813c-4326b207e7ac	g.chrX:78619050T>C	ENST00000373298.2	-	2	256	c.113A>G	c.(112-114)gAg>gGg	p.E38G	ITM2A_ENST00000434584.2_Intron|ITM2A_ENST00000469541.1_5'UTR	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	38						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						AACTCGGAGCTCCTATTTATT	0.398																																						ENST00000373298.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.e2-1		integral membrane protein 2A							38	36	37					X																	78619050		2203	4299	6502	SO:0001630	splice_region_variant	9452					integral to membrane	protein binding	g.chrX:78619050T>C	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"BRICHOS domain containing"	6173	protein-coding gene	gene with protein product	"BRICHOS domain containing 2A"	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.112-1A>G	X.37:g.78619050T>C						ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000434584.2_Intron	p.E38_splice	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN			2	256	-			38					B2R7X5|B4E062|Q6IBC9	Splice_Site	SNP	ENST00000373298.2	37	c.111_splice	CCDS14444.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.836501	0.50951	.	.	ENSG00000078596	ENST00000373298	T	0.25749	1.78	3.99	3.99	0.46301	.	0.657673	0.14213	N	0.333954	T	0.20820	0.0501	L	0.40543	1.245	0.80722	D	1	P	0.49090	0.919	B	0.38378	0.272	T	0.04115	-1.0976	10	0.66056	D	0.02	-6.8722	11.2059	0.48769	0.0:0.0:0.0:1.0	.	38	O43736	ITM2A_HUMAN	G	38	ENSP00000362395:E38G	ENSP00000362395:E38G	E	-	2	0	ITM2A	78505706	1.000000	0.71417	0.337000	0.25536	0.974000	0.67602	4.004000	0.57068	1.377000	0.46286	0.339000	0.21740	GAG		0.398	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867	Missense_Mutation	20	10	0	0	0	1	0	20	10					C	78619050	T	C	78619050	5	2	480	1	0	0	0	0	0	0	1	0	7912	1565	54	4	698	4	ITM2A	23	78619050	Splice_Site	SNP	T	TCGA-ZG-A9L0-01A-11D-A41K-08	8157933	78619050	76651510	47	32203											
TMEM39B	55116	broad.mit.edu	37	chr1	32557412	32557412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggactacctcctgacactgCgggagacgtggaagcagcac	10	5	14	12	2	0	2	0	1	0	1	1	5	1	4	2	3	4	2	2	3	2	1			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr1:32557412C>T	ENST00000336294.5	+	6	873	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	TMEM39B_ENST00000427288.1_Missense_Mutation_p.R128W|TMEM39B_ENST00000456834.2_Missense_Mutation_p.A191V|TMEM39B_ENST00000373634.4_Missense_Mutation_p.R44W|TMEM39B_ENST00000487305.1_3'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	243						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCTGACACTGCGGGAGACGTG	0.647																																						ENST00000427288.1																			0				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11						c.(382-384)Cgg>Tgg		transmembrane protein 39B							73	65	68					1																	32557412		2203	4300	6503	SO:0001583	missense	55116					integral to membrane		g.chr1:32557412C>T	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.727C>T	1.37:g.32557412C>T	ENSP00000338165:p.Arg243Trp					TMEM39B_ENST00000336294.5_Missense_Mutation_p.R243W|TMEM39B_ENST00000456834.2_Missense_Mutation_p.A191V|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Missense_Mutation_p.R44W	p.R128W			Q9GZU3	TM39B_HUMAN			7	862	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	243					B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	37	c.382C>T	CCDS351.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.62|17.62	3.434403|3.434403	0.62955|0.62955	.|.	.|.	ENSG00000121775|ENSG00000121775	ENST00000456834|ENST00000336294;ENST00000373634;ENST00000427288	.|.	.|.	.|.	5.43|5.43	1.96|1.96	0.26148|0.26148	.|.	.|0.186863	.|0.46145	.|D	.|0.000320	T|T	0.59770|0.59770	0.2218|0.2218	L|L	0.50333|0.50333	1.59|1.59	0.29362|0.29362	N|N	0.864622|0.864622	.|D;D;D	.|0.89917	.|0.995;1.0;0.995	.|P;D;P	.|0.70935	.|0.877;0.971;0.877	T|T	0.60525|0.60525	-0.7246|-0.7246	6|9	0.87932|0.59425	D|D	0|0.04	-21.6887|-21.6887	13.9042|13.9042	0.63823|0.63823	0.5108:0.4892:0.0:0.0|0.5108:0.4892:0.0:0.0	.|.	.|243;128;116	.|Q9GZU3;B4DTN8;Q9NW51	.|TM39B_HUMAN;.;.	V|W	191|243;44;128	.|.	ENSP00000390889:A163V|ENSP00000338165:R243W	A|R	+|+	2|1	0|2	TMEM39B|TMEM39B	32329999|32329999	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.409000|0.409000	0.31022|0.31022	1.600000|1.600000	0.36762|0.36762	0.733000|0.733000	0.32492|0.32492	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.647	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		3	31	0	0	0	1	0	3	31					T	32557412	C	T	32557412	3	4	481	1	0	0	0	0	1	0	0	0	16159	759	27	1	749	1	TMEM39B	1	32557412	Missense_Mutation	SNP	C	TCGA-ZG-A9L1-01A-11D-A41K-08		32557412	216693209	1	32204											
TIE1	7075	broad.mit.edu	37	chr1	43783580	43783580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtatatcgctattgaatatgCcccctacgggaacctgctag	10	11	9	11	2	0	1	0	1	0	0	1	2	0	2	3	1	4	3	3	1	8	7			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr1:43783580C>T	ENST00000372476.3	+	17	2838	c.2759C>T	c.(2758-2760)gCc>gTc	p.A920V	TIE1_ENST00000433781.2_Missense_Mutation_p.A565V|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	920	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A920V(2)		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)				ATTGAATATGCCCCCTACGGG	0.527																																						ENST00000372476.3																			2	Substitution - Missense(2)	p.A920V(2)	urinary_tract(2)	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						c.(2758-2760)gCc>gTc		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							280	295	290					1																	43783580		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43783580C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2759C>T	1.37:g.43783580C>T	ENSP00000361554:p.Ala920Val					TIE1_ENST00000433781.2_Missense_Mutation_p.A565V|TIE1_ENST00000473014.1_3'UTR	p.A920V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			17	2838	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	920			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2759C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	35	5.505865	0.96371	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.68331	-0.32;-0.32	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39985	N	0.001215	T	0.72350	0.3449	N	0.13198	0.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.76130	-0.3072	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	875;565;920	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	V	920;323;203;565	ENSP00000361554:A920V;ENSP00000411728:A565V	ENSP00000361553:A323V	A	+	2	0	TIE1	43556167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.757000	0.85209	2.882000	0.98803	0.655000	0.94253	GCC		0.527	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		6	288	0	0	0	1	0	6	288					T	43783580	C	T	43783580	3	4	481	1	0	0	0	0	1	0	0	0	15890	739	26	3	2825	3	TIE1	1	43783580	Missense_Mutation	SNP	C	TCGA-ZG-A9L1-01A-11D-A41K-08	11226168	43783580	205467041	2	32205											
PYHIN1	149628	broad.mit.edu	37	chr1	158911890	158911890	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaatcctcagaaaatgagCaaagaagaatgtttcatgct	17	10	8	6	0	2	5	2	2	0	3	3	5	3	5	1	0	2	3	1	0	6	1			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr1:158911890C>G	ENST00000368140.1	+	5	948	c.703C>G	c.(703-705)Caa>Gaa	p.Q235E	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.Q226E|PYHIN1_ENST00000392254.2_Missense_Mutation_p.Q235E|PYHIN1_ENST00000368138.3_Missense_Mutation_p.Q226E	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	235	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				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)					AGAAAATGAGCAAAGAAGAAT	0.348																																						ENST00000368140.1																			0				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						c.(703-705)Caa>Gaa		pyrin and HIN domain family, member 1							71	74	73					1																	158911890		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158911890C>G	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.703C>G	1.37:g.158911890C>G	ENSP00000357122:p.Gln235Glu					PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.Q226E|PYHIN1_ENST00000392254.2_Missense_Mutation_p.Q235E|PYHIN1_ENST00000392252.3_Missense_Mutation_p.Q226E	p.Q235E	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			5	948	+	all_hematologic(112;0.0378)		235			HIN-200.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.703C>G	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	C	3.060	-0.193419	0.06259	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	2.07	-0.268	0.12934	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.02119	0.0066	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.17268	0.007;0.004;0.021;0.009	B;B;B;B	0.15484	0.008;0.01;0.008;0.013	T	0.45220	-0.9276	9	0.48119	T	0.1	.	2.497	0.04624	0.4539:0.335:0.2111:0.0	.	226;235;226;235	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	E	235;226;235;226	ENSP00000357122:Q235E;ENSP00000357120:Q226E;ENSP00000376083:Q235E;ENSP00000376082:Q226E	ENSP00000357120:Q226E	Q	+	1	0	PYHIN1	157178514	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.120000	0.15647	-0.084000	0.12595	-0.262000	0.10625	CAA		0.348	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		8	19	0	0	0	1	0	8	19					G	158911890	C	G	158911890	3	3	481	1	0	0	0	0	1	0	0	0	12865	711	25	5	717	5	PYHIN1	1	158911890	Missense_Mutation	SNP	C	TCGA-ZG-A9L1-01A-11D-A41K-08	115128310	158911890	90338731	3	32206											
BAZ2B	29994	broad.mit.edu	37	chr2	160193564	160193564	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccttctccataccctgagCcctggagcaatatcctcttc	7	11	6	17	0	2	1	0	1	2	0	5	2	3	2	5	1	3	1	5	1	3	4			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr2:160193564C>A	ENST00000392783.2	-	33	6180	c.5685G>T	c.(5683-5685)ggG>ggT	p.G1895G	BAZ2B_ENST00000392782.1_Silent_p.G1859G|BAZ2B_ENST00000343439.5_Silent_p.G1795G|BAZ2B_ENST00000355831.2_Silent_p.G1861G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1895					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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						ATACCCTGAGCCCTGGAGCAA	0.408																																						ENST00000392783.2																			0				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						c.(5683-5685)ggG>ggT		bromodomain adjacent to zinc finger domain, 2B							123	116	118					2																	160193564		1862	4103	5965	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160193564C>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.5685G>T	2.37:g.160193564C>A						BAZ2B_ENST00000392782.1_Silent_p.G1859G|BAZ2B_ENST00000355831.2_Silent_p.G1861G|BAZ2B_ENST00000343439.5_Silent_p.G1795G	p.G1895G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			33	6180	-			1895					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.5685G>T	CCDS2209.2																																																																																				0.408	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			6	58	1	0	0.307466	1	0.307466	6	58					A	160193564	C	A	160193564	2	1	481	1	0	0	0	0	0	0	0	1	1332	726	26	5		5	BAZ2B	2	160193564	Silent	SNP	C	TCGA-ZG-A9L1-01A-11D-A41K-08		160193564	83005809	4	32207											
MARCH7	64844	broad.mit.edu	37	chr2	160602322	160602322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagttcctagatcttcatcaAtggtacttggatcatttgga	11	15	8	7	0	4	1	3	0	1	1	5	3	5	3	1	3	1	2	1	3	4	6	rs375119177		TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr2:160602322A>G	ENST00000259050.4	+	4	510	c.388A>G	c.(388-390)Atg>Gtg	p.M130V	MARCH7_ENST00000409591.1_Missense_Mutation_p.M92V|MARCH7_ENST00000473749.1_Intron|MARCH7_ENST00000539065.1_Intron|MARCH7_ENST00000409175.1_Missense_Mutation_p.M130V	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	130	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						ATCTTCATCAATGGTACTTGG	0.358																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(388-390)Atg>Gtg		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase		A	VAL/MET	0,4406		0,0,2203	84	84	84		388	-10.1	0.8	2		84	1,8597	1.2+/-3.3	0,1,4298	no	missense	MARCH7	NM_022826.2	21	0,1,6501	GG,GA,AA		0.0116,0.0,0.0077	benign	130/705	160602322	1,13003	2203	4299	6502	SO:0001583	missense	64844						ligase activity|zinc ion binding	g.chr2:160602322A>G	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.388A>G	2.37:g.160602322A>G	ENSP00000259050:p.Met130Val					MARCH7_ENST00000539065.1_Intron|MARCH7_ENST00000473749.1_Intron|MARCH7_ENST00000409591.1_Missense_Mutation_p.M92V|MARCH7_ENST00000409175.1_Missense_Mutation_p.M130V	p.M130V	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			4	510	+			130			Ser-rich.		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	37	c.388A>G	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.705670	0.00719	0.0	1.16E-4	ENSG00000136536	ENST00000409175;ENST00000259050;ENST00000409591	T;T;T	0.10477	2.88;2.88;2.87	5.47	-10.1	0.00402	.	0.828206	0.11739	N	0.534173	T	0.02610	0.0079	N	0.05510	-0.035	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39623	-0.9605	10	0.02654	T	1	-16.8347	5.5992	0.17345	0.3365:0.0964:0.4718:0.0953	.	92;130	B7Z7P5;Q9H992	.;MARH7_HUMAN	V	130;130;92	ENSP00000386830:M130V;ENSP00000259050:M130V;ENSP00000387238:M92V	ENSP00000259050:M130V	M	+	1	0	MARCH7	160310568	0.002000	0.14202	0.795000	0.32087	0.063000	0.16089	-1.429000	0.02437	-1.848000	0.01172	-1.154000	0.01816	ATG		0.358	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		35	66	0	0	0	1	0	35	66					G	160602322	A	G	160602322	3	3	481	1	0	0	0	0	1	0	0	0	9306	101	4	4	398	4	MARCH7	2	160602322	Missense_Mutation	SNP	A	TCGA-ZG-A9L1-01A-11D-A41K-08	408758	160602322	82597051	5	32208											
ZNF142	7701	broad.mit.edu	37	chr2	219508077	219508077	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctcgttttcctcccccGccacgtccccccctgcagcc	2	9	6	24	3	0	0	0	0	0	0	5	0	4	0	9	0	2	2	9	0	0	2	rs188997501	byFrequency	TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr2:219508077G>A	ENST00000449707.1	-	8	3583	c.3162C>T	c.(3160-3162)ggC>ggT	p.G1054G	ZNF142_ENST00000411696.2_Silent_p.G1054G	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1054					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		TTCCTCCCCCGCCACGTCCCC	0.602													G|||	2	0.000399361	0	0	5008	,	,		16301	0.002		0	False		,,,				2504	0				Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3160-3162)ggC>ggT		zinc finger protein 142							40	46	44					2																	219508077		1928	4113	6041	SO:0001819	synonymous_variant	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508077G>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3162C>T	2.37:g.219508077G>A						ZNF142_ENST00000449707.1_Silent_p.G1054G	p.G1054G			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	3941	-		Renal(207;0.0474)	1054					Q92510	Silent	SNP	ENST00000449707.1	37	c.3162C>T	CCDS42817.1																																																																																				0.602	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		17	24	0	0	0	1	0	17	24					A	219508077	G	A	219508077	2	1	481	1	0	0	0	0	0	0	0	1	17728	1074	38	1		1	ZNF142	2	219508077	Silent	SNP	G	TCGA-ZG-A9L1-01A-11D-A41K-08	58905755	219508077	23691296	6	32209											
GORASP1	64689	broad.mit.edu	37	chr3	39141919	39141919	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaggtggtggggtgccAggtggcttcttgtggtagct	5	11	19	6	0	1	1	0	0	1	1	1	1	1	1	1	7	2	4	1	7	2	3			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr3:39141919A>G	ENST00000319283.3	-	6	1463	c.642T>C	c.(640-642)ccT>ccC	p.P214P	GORASP1_ENST00000479927.1_Silent_p.P119P|GORASP1_ENST00000422110.2_Silent_p.P59P|GORASP1_ENST00000476334.1_5'Flank	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	214	Pro-rich.				Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GTGGGGTGCCAGGTGGCTTCT	0.587																																						ENST00000319283.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14						c.(640-642)ccT>ccC		golgi reassembly stacking protein 1, 65kDa							78	86	83					3																	39141919		2203	4300	6503	SO:0001819	synonymous_variant	64689				mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane		g.chr3:39141919A>G	AJ409349	CCDS2681.1, CCDS63596.1, CCDS63597.1	3p22-p21.33	2008-04-23	2002-08-29	2002-05-24	ENSG00000114745	ENSG00000114745			16769	protein-coding gene	gene with protein product		606867	"golgi phosphoprotein 5"	GOLPH5			Standard	NM_001278789		Approved	GRASP65, P65, FLJ23443	uc003ciw.1	Q9BQQ3	OTTHUMG00000131292	ENST00000319283.3:c.642T>C	3.37:g.39141919A>G						GORASP1_ENST00000422110.2_Silent_p.P59P|GORASP1_ENST00000479927.1_Silent_p.P119P	p.P214P	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	6	1463	-			214			Pro-rich.		B3KWC8|Q3SYG7|Q8N272|Q96H42	Silent	SNP	ENST00000319283.3	37	c.642T>C	CCDS2681.1																																																																																				0.587	GORASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254060.1			6	18	0	0	0	1	0	6	18					G	39141919	A	G	39141919	2	3	481	1	0	0	0	0	0	0	0	1	6575	175	7	4		4	GORASP1	3	39141919	Silent	SNP	A	TCGA-ZG-A9L1-01A-11D-A41K-08		39141919	158880511	7	32210											
ZNF662	389114	broad.mit.edu	37	chr3	42956594	42956594	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtgggaagggcttcatgtgGaactcagatctttctcagca	9	12	12	8	0	4	1	3	0	2	1	5	3	4	3	0	3	2	2	0	3	2	2			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr3:42956594G>A	ENST00000541208.1	+	5	1398	c.1029G>A	c.(1027-1029)tgG>tgA	p.W343*	ZNF662_ENST00000328199.6_Nonsense_Mutation_p.W369*|ZNF662_ENST00000440367.2_Nonsense_Mutation_p.W343*|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GCTTCATGTGGAACTCAGATC	0.488																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1027-1029)tgG>tgA		zinc finger protein 662							89	85	86					3																	42956594		2203	4300	6503	SO:0001587	stop_gained	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956594G>A	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"Zinc fingers, C2H2-type", "-"	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.1029G>A	3.37:g.42956594G>A	ENSP00000446208:p.Trp343*					ZNF662_ENST00000440367.2_Nonsense_Mutation_p.W343*|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Nonsense_Mutation_p.W369*|ZNF662_ENST00000422021.1_Intron	p.W343*			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	1398	+			343					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Nonsense_Mutation	SNP	ENST00000541208.1	37	c.1029G>A	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349235	0.82132	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	.	.	.	3.13	2.14	0.27477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	3.3415	0.07120	0.1406:0.0:0.6031:0.2563	.	.	.	.	X	343;369;343	.	ENSP00000329264:W369X	W	+	3	0	ZNF662	42931598	0.009000	0.17119	1.000000	0.80357	0.982000	0.71751	1.393000	0.34497	1.780000	0.52325	0.555000	0.69702	TGG		0.488	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		3	45	0	0	0	1	0	3	45					A	42956594	G	A	42956594	4	1	481	1	0	0	0	0	0	1	0	0	18068	1183	41	3	1230	3	ZNF662	3	42956594	Nonsense_Mutation	SNP	G	TCGA-ZG-A9L1-01A-11D-A41K-08	3814675	42956594	155065836	8	32211											
DRD3	1814	broad.mit.edu	37	chr3	113866343	113866344	+	Frame_Shift_Ins	INS	-	-	C																															gtgatcatgagggccacgcgINSccgacaggagctctgtcccg																								rs200010990		TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr3:113866343_113866344insC	ENST00000460779.1	-	5	733_734	c.444_445insG	c.(442-447)cggcgcfs	p.R149fs	DRD3_ENST00000295881.7_Frame_Shift_Ins_p.R149fs|DRD3_ENST00000383673.2_Frame_Shift_Ins_p.R149fs|DRD3_ENST00000467632.1_Frame_Shift_Ins_p.R149fs	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	149					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.R149S(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGGGCCACGCGCCGACAGGAGC	0.559																																						ENST00000383673.2																			1	Substitution - Missense(1)	p.R149S(1)	lung(1)	central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36						c.(442-447)cggcgtfs		dopamine receptor D3	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)																																			SO:0001589	frameshift_variant	1814				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	g.chr3:113866343_113866344insC		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.445dupG	3.37:g.113866345_113866345dupC	ENSP00000419402:p.Arg149fs					DRD3_ENST00000295881.7_Frame_Shift_Ins_p.R149fs|DRD3_ENST00000467632.1_Frame_Shift_Ins_p.R149fs|DRD3_ENST00000460779.1_Frame_Shift_Ins_p.R149fs	p.R149fs	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN			4	874_875	-			149					A1A4V5|Q4VBM8	Frame_Shift_Ins	INS	ENST00000460779.1	37	c.444_445insG	CCDS2978.1																																																																																				0.559	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		23	41						23	41	---	---	---	---	C	113866344	-	C	113866343	7	5	481	1	0	1	1	0	0	0	0	0	4758	1087	38	0	773	0	DRD3	3	113866343	Frame_Shift_Ins	INS	-	TCGA-ZG-A9L1-01A-11D-A41K-08	70909749	113866343	84156087	9	32212											
KBTBD12	166348	broad.mit.edu	37	chr3	127648992	127648992	+	Frame_Shift_Del	DEL	A	A	-																															acagatggatcttcctgatgAagaacctgatcgattaagca																										TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr3:127648992delA	ENST00000405109.1	+	4	1825	c.1358delA	c.(1357-1359)gaafs	p.E454fs	KBTBD12_ENST00000405256.1_Frame_Shift_Del_p.E454fs|KBTBD12_ENST00000343941.4_Frame_Shift_Del_p.E29fs|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000407609.3_Frame_Shift_Del_p.E61fs			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	454										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTTCCTGATGAAGAACCTGAT	0.393																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(1357-1359)gafs		kelch repeat and BTB (POZ) domain containing 12							75	63	67					3																	127648992		2203	4298	6501	SO:0001589	frameshift_variant	166348							g.chr3:127648992delA		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"BTB/POZ domain containing"	25731	protein-coding gene	gene with protein product			"kelch domain containing 6"	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1358delA	3.37:g.127648992delA	ENSP00000385957:p.Glu454fs					KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Frame_Shift_Del_p.E29fs|KBTBD12_ENST00000405256.1_Frame_Shift_Del_p.E454fs|KBTBD12_ENST00000407609.3_Frame_Shift_Del_p.E61fs	p.E454fs			Q3ZCT8	KBTBC_HUMAN			4	1825	+			454					B5MCC6|Q6ZRK1	Frame_Shift_Del	DEL	ENST00000405109.1	37	c.1358delA	CCDS33848.2																																																																																				0.393	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		2	4						2	4	---	---	---	---	-	127648992	A	-	127648992	7	5	481	1	0	1	0	1	0	0	0	0	7991	246	9	0	1368	0	KBTBD12	3	127648992	Frame_Shift_Del	DEL	A	TCGA-ZG-A9L1-01A-11D-A41K-08	13782649	127648992	70373438	10	32213											
KIF13A	63971	broad.mit.edu	37	chr6	17764397	17764397	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattattacctggtcattctCtaacttggaatgcagctggc	10	14	8	9	0	2	0	1	0	1	0	3	1	2	1	1	3	4	2	1	3	5	5			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr6:17764397C>G	ENST00000259711.6	-	39	5467	c.5362G>C	c.(5362-5364)Gag>Cag	p.E1788Q	KIF13A_ENST00000378816.5_Missense_Mutation_p.E1753Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.E1753Q|KIF13A_ENST00000378843.2_Missense_Mutation_p.E1740Q|KIF13A_ENST00000378814.5_Missense_Mutation_p.E1740Q	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1788					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)			TGGTCATTCTCTAACTTGGAA	0.512																																						ENST00000378814.5																			0				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						c.(5218-5220)Gag>Cag		kinesin family member 13A							53	55	55					6																	17764397		1938	4134	6072	SO:0001583	missense	63971				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	g.chr6:17764397C>G	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.5362G>C	6.37:g.17764397C>G	ENSP00000259711:p.Glu1788Gln					KIF13A_ENST00000378816.5_Missense_Mutation_p.E1753Q|KIF13A_ENST00000378843.2_Missense_Mutation_p.E1740Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.E1753Q|KIF13A_ENST00000259711.6_Missense_Mutation_p.E1788Q	p.E1740Q	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		37	5217	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1788					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.5218G>C	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961684	0.34659	.	.	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T;T	0.74947	-0.76;1.66;-0.89;-0.78;-0.77;-0.78	5.78	3.06	0.35304	.	0.468030	0.22635	N	0.057539	T	0.41096	0.1144	L	0.29908	0.895	0.09310	N	0.999999	B;B;B;B	0.18968	0.032;0.009;0.005;0.032	B;B;B;B	0.24701	0.055;0.041;0.018;0.055	T	0.35276	-0.9795	10	0.42905	T	0.14	.	7.0908	0.25283	0.1216:0.6824:0.0:0.196	.	1740;1753;1788;1740	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	Q	1740;792;1788;1753;1740;1753	ENSP00000368091:E1740Q;ENSP00000425616:E792Q;ENSP00000259711:E1788Q;ENSP00000368103:E1753Q;ENSP00000368120:E1740Q;ENSP00000368093:E1753Q	ENSP00000259711:E1788Q	E	-	1	0	KIF13A	17872376	0.000000	0.05858	0.377000	0.26055	0.868000	0.49771	0.449000	0.21744	0.466000	0.27193	-0.229000	0.12294	GAG		0.512	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			11	21	0	0	0	1	0	11	21					G	17764397	C	G	17764397	3	3	481	1	0	0	0	0	1	0	0	0	8274	922	32	5	84	5	KIF13A	6	17764397	Missense_Mutation	SNP	C	TCGA-ZG-A9L1-01A-11D-A41K-08		17764397	153350670	11	32214											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114499	27114499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgcttgcgcttcttgcCgtccttcttctgcgccttag	1	15	10	15	4	3	0	0	0	3	0	4	0	4	0	3	0	4	3	3	0	1	6			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr6:27114499C>T	ENST00000356950.1	-	1	78	c.79G>A	c.(79-81)Ggc>Agc	p.G27S	MIR3143_ENST00000584253.1_RNA|HIST1H2AH_ENST00000377459.1_5'Flank|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.G27S			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	27					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGCTTCTTGCCGTCCTTCTTC	0.597																																						ENST00000396891.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(79-81)Ggc>Agc		histone cluster 1, H2bk							179	145	157					6																	27114499		2203	4300	6503	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114499C>T	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"Histones / Replication-dependent"	13954	protein-coding gene	gene with protein product		615045	"H2B histone family, member T", "histone 1, H2bk"	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.79G>A	6.37:g.27114499C>T	ENSP00000349430:p.Gly27Ser					HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G27S	p.G27S	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN			1	120	-			27					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.79G>A	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487925	0.64074	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.22539	1.95;1.95	3.82	3.82	0.43975	Histone-fold (2);	.	.	.	.	T	0.09379	0.0231	L	0.46947	1.48	0.44946	D	0.997962	B	0.30146	0.27	B	0.08055	0.003	T	0.06356	-1.0831	9	0.46703	T	0.11	.	14.0417	0.64678	0.0:1.0:0.0:0.0	.	27	O60814	H2B1K_HUMAN	S	27	ENSP00000380100:G27S;ENSP00000349430:G27S	ENSP00000349430:G27S	G	-	1	0	HIST1H2BK	27222478	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	5.099000	0.64554	2.080000	0.62538	0.650000	0.86243	GGC		0.597	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		4	137	0	0	0	1	0	4	137					T	27114499	C	T	27114499	3	4	481	1	0	0	0	0	1	0	0	0	7150	652	23	2	305	2	HIST1H2BK	6	27114499	Missense_Mutation	SNP	C	TCGA-ZG-A9L1-01A-11D-A41K-08	9350102	27114499	144000568	12	32215											
CCHCR1	54535	broad.mit.edu	37	chr6	31117847	31117847	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagagagtgcagtgacctgtCccttcagctgcttaacagag	11	9	11	10	0	1	3	1	1	0	2	2	4	2	3	2	0	4	3	2	0	2	2			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr6:31117847C>A	ENST00000376266.5	-	8	1213	c.1091G>T	c.(1090-1092)gGa>gTa	p.G364V	CCHCR1_ENST00000396263.2_Missense_Mutation_p.G364V|CCHCR1_ENST00000451521.2_Missense_Mutation_p.G417V|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Missense_Mutation_p.G453V	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	364					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGTGACCTGTCCCTTCAGCTG	0.547																																						ENST00000396268.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(1357-1359)gGa>gTa		coiled-coil alpha-helical rod protein 1							136	118	124					6																	31117847		2203	4300	6503	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31117847C>A	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1091G>T	6.37:g.31117847C>A	ENSP00000365442:p.Gly364Val					CCHCR1_ENST00000376266.5_Missense_Mutation_p.G364V|CCHCR1_ENST00000396263.2_Missense_Mutation_p.G364V|CCHCR1_ENST00000451521.2_Missense_Mutation_p.G417V|CCHCR1_ENST00000480060.1_Intron	p.G453V	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN			8	1546	-			364					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.1358G>T	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481831	0.26598	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.03330	3.97;3.97;3.97;3.97	5.17	-0.147	0.13428	.	1.133580	0.06401	N	0.718828	T	0.01353	0.0044	L	0.54323	1.7	0.28008	N	0.935014	P;B;B;P;P	0.40000	0.698;0.202;0.297;0.473;0.465	B;B;B;B;B	0.39419	0.299;0.08;0.13;0.176;0.113	T	0.43956	-0.9359	10	0.34782	T	0.22	-0.0521	1.6787	0.02827	0.1577:0.3554:0.3074:0.1794	.	364;364;364;417;453	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	V	453;364;364;364;417	ENSP00000379566:G453V;ENSP00000365442:G364V;ENSP00000379561:G364V;ENSP00000401039:G417V	ENSP00000365442:G364V	G	-	2	0	CCHCR1	31225826	0.219000	0.23619	0.879000	0.34478	0.870000	0.49936	0.525000	0.22956	-0.093000	0.12396	-0.244000	0.11960	GGA		0.547	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		19	48	1	0	2.37509e-13	1	2.6251e-13	19	48					A	31117847	C	A	31117847	3	1	481	1	0	0	0	0	1	0	0	0	2877	855	30	5	1301	5	CCHCR1	6	31117847	Missense_Mutation	SNP	C	TCGA-ZG-A9L1-01A-11D-A41K-08	4003348	31117847	139997220	13	32216											
PERP	64065	broad.mit.edu	37	chr6	138428291	138428291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catgaggctctgacagccctCctcgtaggacccgctgccgc	6	7	11	17	3	1	2	0	2	1	0	3	3	2	3	4	2	2	3	4	2	1	1			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr6:138428291C>T	ENST00000421351.3	-	1	357	c.187G>A	c.(187-189)Gag>Aag	p.E63K		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	63					activation of cysteine-type endopeptidase activity (GO:0097202)|amelogenesis (GO:0097186)|desmosome organization (GO:0002934)|heterotypic cell-cell adhesion (GO:0034113)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of proteolysis (GO:0045862)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		TGACAGCCCTCCTCGTAGGAC	0.726																																						ENST00000421351.3																			0				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5						c.(187-189)Gag>Aag		PERP, TP53 apoptosis effector							28	35	33					6																	138428291		2195	4287	6482	SO:0001583	missense	64065				apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus		g.chr6:138428291C>T	AF317550	CCDS5188.1	6q24	2014-04-29			ENSG00000112378	ENSG00000112378			17637	protein-coding gene	gene with protein product	"keratinocyte associated protein 1"	609301				11062687	Standard	NM_022121		Approved	PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1	uc003qht.2	Q96FX8	OTTHUMG00000015668	ENST00000421351.3:c.187G>A	6.37:g.138428291C>T	ENSP00000397157:p.Glu63Lys						p.E63K	NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN		GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)	1	357	-	Breast(32;0.0799)|Colorectal(23;0.24)		63					B2RB73|E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230	Missense_Mutation	SNP	ENST00000421351.3	37	c.187G>A	CCDS5188.1	.	.	.	.	.	.	.	.	.	.	c	0.162	-1.080620	0.01888	.	.	ENSG00000112378	ENST00000421351;ENST00000265603	D	0.88509	-2.39	4.34	1.21	0.21127	.	0.774581	0.12968	N	0.424414	T	0.62085	0.2399	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.19391	0.025	T	0.51741	-0.8667	10	0.12103	T	0.63	-0.0974	9.5433	0.39266	0.1361:0.3445:0.5194:0.0	.	63	Q96FX8	PERP_HUMAN	K	63;45	ENSP00000397157:E63K	ENSP00000265603:E45K	E	-	1	0	PERP	138469984	0.012000	0.17670	0.001000	0.08648	0.056000	0.15407	0.667000	0.25112	-0.069000	0.12931	0.486000	0.48141	GAG		0.726	PERP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042423.2	NM_022121		14	46	0	0	0	1	0	14	46					T	138428291	C	T	138428291	3	4	481	1	0	0	0	0	1	0	0	0	11732	864	30	3	406	3	PERP	6	138428291	Missense_Mutation	SNP	C	TCGA-ZG-A9L1-01A-11D-A41K-08	107310444	138428291	32686776	14	32217											
SYNE1	23345	broad.mit.edu	37	chr6	152749370	152749370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagcagattctccagcGccgtctgtctctccttcgcc	4	10	10	17	3	3	1	0	0	3	1	7	1	4	1	5	1	2	1	5	1	0	2			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr6:152749370G>A	ENST00000367255.5	-	37	5547	c.4946C>T	c.(4945-4947)gCg>gTg	p.A1649V	SYNE1_ENST00000341594.5_Missense_Mutation_p.A1719V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1649V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1656V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1656V|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1649V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1649					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			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)		ATTCTCCAGCGCCGTCTGTCT	0.517										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(4945-4947)gCg>gTg		spectrin repeat containing, nuclear envelope 1							197	205	202					6																	152749370		2203	4300	6503	SO:0001583	missense	23345				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	g.chr6:152749370G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4946C>T	6.37:g.152749370G>A	ENSP00000356224:p.Ala1649Val	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.A1656V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1656V|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1649V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1649V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1719V	p.A1649V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	37	5547	-		Ovarian(120;0.0955)	1649					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4946C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	12.47	1.948723	0.34377	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.52057	1.33;1.33;1.33;1.33;0.68;0.68	5.87	-11.7	0.00046	.	1.800440	0.02732	N	0.115218	T	0.08626	0.0214	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.12013	0.001;0.005;0.004;0.005;0.004	B;B;B;B;B	0.08055	0.001;0.001;0.002;0.001;0.003	T	0.11690	-1.0577	10	0.26408	T	0.33	.	14.3702	0.66833	0.7246:0.0:0.142:0.1334	.	1632;1649;1649;1649;1656	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	V	1649;1656;1649;1656;1719;1649	ENSP00000356224:A1649V;ENSP00000396024:A1656V;ENSP00000265368:A1649V;ENSP00000390975:A1656V;ENSP00000341887:A1719V;ENSP00000356222:A1649V	ENSP00000265368:A1649V	A	-	2	0	SYNE1	152791063	0.000000	0.05858	0.000000	0.03702	0.204000	0.24138	-2.136000	0.01305	-2.770000	0.00365	-0.732000	0.03574	GCG		0.517	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		61	152	0	0	0	1	0	61	152					A	152749370	G	A	152749370	3	1	481	1	0	0	0	0	1	0	0	0	15442	1087	38	1	21960	1	SYNE1	6	152749370	Missense_Mutation	SNP	G	TCGA-ZG-A9L1-01A-11D-A41K-08	14321079	152749370	18365697	15	32218											
LMTK2	22853	broad.mit.edu	37	chr7	97821361	97821362	+	Frame_Shift_Del	DEL	TG	TG	-																															caagatgacagcggccaggaTgtccccctgagggtccctgg																										TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr7:97821361_97821362delTG	ENST00000297293.5	+	11	1877_1878	c.1584_1585delTG	c.(1582-1587)gatgtcfs	p.V529fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	529					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCGGCCAGGATGTCCCCCTGAG	0.485																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1582-1587)gatcfs		lemur tyrosine kinase 2																																				SO:0001589	frameshift_variant	22853				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	g.chr7:97821361_97821362delTG	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1584_1585delTG	7.37:g.97821361_97821362delTG	ENSP00000297293:p.Val529fs						p.DV528fs	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	1877_1878	+	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)		528					A4D272|Q75MG7|Q9UPS3	Frame_Shift_Del	DEL	ENST00000297293.5	37	c.1584_1585delTG	CCDS5654.1																																																																																				0.485	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		26	34						26	34	---	---	---	---	-	97821362	TG	-	97821361	7	5	481	1	0	1	0	1	0	0	0	0	8859	1461	51	0	1626	0	LMTK2	7	97821361	Frame_Shift_Del	DEL	TG	TCGA-ZG-A9L1-01A-11D-A41K-08		97821361	61317302	16	32219											
SPDYE3	441272	broad.mit.edu	37	chr7	99913460	99913460	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagatctgagggtgtcAgacaaggtaaggttgttctc	12	10	13	6	0	3	3	1	1	2	2	4	4	3	3	0	3	0	3	0	3	3	3	rs201349757		TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522																																						ENST00000332397.6																			11	Substitution - coding silent(11)	p.S418S(11)	endometrium(10)|prostate(1)	endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1252-1254)tcA>tcG		speedy/RINGO cell cycle regulator family member E3							253	273	266					7																	99913460		2091	3956	6047	SO:0001819	synonymous_variant	441272							g.chr7:99913460A>G	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"Speedy homologs"	35462	protein-coding gene	gene with protein product			"speedy homolog E3 (Xenopus laevis)"				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1254A>G	7.37:g.99913460A>G						SPDYE3_ENST00000437326.2_Silent_p.S41S	p.S418S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			7	1438	+			418					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.1254A>G	CCDS47658.2																																																																																				0.522	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		5	293	0	0	0	1	0	5	293					G	99913460	A	G	99913460	2	3	481	1	0	0	0	0	0	0	0	1	15029	175	7	4		4	SPDYE3	7	99913460	Silent	SNP	A	TCGA-ZG-A9L1-01A-11D-A41K-08	2092099	99913460	59225203	17	32220											
DOCK5	80005	broad.mit.edu	37	chr8	25246690	25246690	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaacccagttccccaatgcGgagaagatgaccagtaccac	13	7	8	13	1	0	3	0	1	0	2	1	4	1	3	5	1	3	2	5	1	4	3	rs372464639	byFrequency	TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr8:25246690G>A	ENST00000276440.7	+	41	4259	c.4215G>A	c.(4213-4215)gcG>gcA	p.A1405A		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1405	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TCCCCAATGCGGAGAAGATGA	0.542													G|||	2	0.000399361	8e-04	0	5008	,	,		19724	0.001		0	False		,,,				2504	0				Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4213-4215)gcG>gcA		dedicator of cytokinesis 5		G		1,4405	2.1+/-5.4	0,1,2202	136	121	126		4215	-7	0.9	8		126	0,8600		0,0,4300	no	coding-synonymous	DOCK5	NM_024940.6		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1405/1871	25246690	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25246690G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4215G>A	8.37:g.25246690G>A							p.A1405A	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	41	4259	+		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)	1405			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.4215G>A	CCDS6047.1																																																																																				0.542	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		35	50	0	0	0	1	0	35	50					A	25246690	G	A	25246690	2	1	481	1	0	0	0	0	0	0	0	1	4690	1103	39	2		2	DOCK5	8	25246690	Silent	SNP	G	TCGA-ZG-A9L1-01A-11D-A41K-08		25246690	121117332	18	32221											
SVEP1	79987	broad.mit.edu	37	chr9	113221318	113221318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaggccttccctgcattaGgttggtaatagtcacgagga	11	10	12	8	1	1	1	1	0	0	1	2	3	2	2	2	4	1	3	2	4	4	5			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr9:113221318G>T	ENST00000401783.2	-	19	3734	c.3398C>A	c.(3397-3399)cCt>cAt	p.P1133H	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.P1133H|SVEP1_ENST00000374469.1_Missense_Mutation_p.P1110H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1133					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			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						CCCTGCATTAGGTTGGTAATA	0.463																																						ENST00000401783.2																			0				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						c.(3397-3399)cCt>cAt		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							129	127	128					9																	113221318		1919	4124	6043	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113221318G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3398C>A	9.37:g.113221318G>T	ENSP00000384917:p.Pro1133His					SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.P1133H|SVEP1_ENST00000374469.1_Missense_Mutation_p.P1110H	p.P1133H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			19	3734	-			1133					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.3398C>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587041	0.66105	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.17213	2.29;2.29;2.29	5.6	5.6	0.85130	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	M	0.79926	2.475	0.51233	D	0.999916	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.24119	-1.0169	10	0.25751	T	0.34	.	19.6126	0.95616	0.0:0.0:1.0:0.0	.	1133;1133	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	H	1133;1110;1133	ENSP00000384917:P1133H;ENSP00000363593:P1110H;ENSP00000304118:P1133H	ENSP00000304118:P1133H	P	-	2	0	SVEP1	112261139	1.000000	0.71417	0.904000	0.35570	0.116000	0.19942	9.410000	0.97335	2.630000	0.89119	0.591000	0.81541	CCT		0.463	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	66	1	0	8.12818e-05	1	8.53459e-05	6	66					T	113221318	G	T	113221318	3	4	481	1	0	0	0	0	1	0	0	0	15417	1000	35	5	7437	5	SVEP1	9	113221318	Missense_Mutation	SNP	G	TCGA-ZG-A9L1-01A-11D-A41K-08		113221318	27992113	19	32222											
C10orf54	64115	broad.mit.edu	37	chr10	73521610	73521610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggttgcggatgggccggcGctctgagcaggtctgcacct	5	8	17	11	3	2	1	0	1	2	0	2	3	2	2	2	5	3	4	2	5	0	1			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr10:73521610G>A	ENST00000394957.3	-	2	314	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.2_5'UTR	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	86	Ig-like.				BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						ATGGGCCGGCGCTCTGAGCAG	0.652																																						ENST00000394957.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(256-258)Cgc>Tgc		chromosome 10 open reading frame 54							106	99	101					10																	73521610		2203	4300	6503	SO:0001583	missense	64115					integral to membrane	receptor activity	g.chr10:73521610G>A	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"Immunoglobulin superfamily / V-set domain containing"	30085	protein-coding gene	gene with protein product	"stress induced secreted protein 1"	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.256C>T	10.37:g.73521610G>A	ENSP00000378409:p.Arg86Cys					CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.1_5'UTR	p.R86C	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN			2	314	-			86			Ig-like.		A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	37	c.256C>T	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663294	0.88251	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.48522	0.81	5.75	4.78	0.61160	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.586500	0.19137	N	0.121783	T	0.60327	0.2260	L	0.50333	1.59	0.45066	D	0.998086	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.91	T	0.60535	-0.7244	10	0.72032	D	0.01	-12.9833	11.3932	0.49825	0.0:0.0:0.607:0.393	.	82;86	Q2TA85;Q9H7M9	.;GI24_HUMAN	C	86;82	ENSP00000378409:R86C	ENSP00000263569:R82C	R	-	1	0	C10orf54	73191616	0.967000	0.33354	0.998000	0.56505	0.982000	0.71751	2.635000	0.46537	2.720000	0.93068	0.655000	0.94253	CGC		0.652	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		4	46	0	0	0	1	0	4	46					A	73521610	G	A	73521610	3	1	481	1	0	0	0	0	1	0	0	0	1607	1087	38	1	703	1	C10orf54	10	73521610	Missense_Mutation	SNP	G	TCGA-ZG-A9L1-01A-11D-A41K-08		73521610	62013137	20	32223											
AP2A2	161	broad.mit.edu	37	chr11	994173	994173	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcacggtgacagacctggaGgacaccaagcgggacaggag	13	2	16	10	2	0	2	0	1	0	1	0	6	0	6	2	5	2	1	2	5	1	0			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr11:994173G>A	ENST00000448903.2	+	14	2025	c.1884G>A	c.(1882-1884)gaG>gaA	p.E628E	AP2A2_ENST00000332231.5_Silent_p.E629E|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	628					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGACCTGGAGGACACCAAGC	0.647																																						ENST00000448903.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(1882-1884)gaG>gaA		adaptor-related protein complex 2, alpha 2 subunit							61	77	72					11																	994173		2070	4172	6242	SO:0001819	synonymous_variant	161				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	g.chr11:994173G>A	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.1884G>A	11.37:g.994173G>A						AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Silent_p.E629E	p.E628E	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		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)	14	2025	+		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)	628					O75403|Q53ET1|Q96SI8	Silent	SNP	ENST00000448903.2	37	c.1884G>A	CCDS44512.1																																																																																				0.647	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		16	55	0	0	0	1	0	16	55					A	994173	G	A	994173	2	1	481	1	0	0	0	0	0	0	0	1	740	991	35	3		3	AP2A2	11	994173	Silent	SNP	G	TCGA-ZG-A9L1-01A-11D-A41K-08		994173	134012343	21	32224											
PAX6	5080	broad.mit.edu	37	chr11	31815294	31815294	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgttgctggcctgtcttctCtgattcctcagtttttcttc	2	20	8	11	0	4	1	1	1	3	0	7	1	5	1	2	1	1	3	2	1	0	6			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr11:31815294C>T	ENST00000379132.3	-	9	1102	c.822G>A	c.(820-822)caG>caA	p.Q274Q	PAX6_ENST00000379107.2_Silent_p.Q288Q|PAX6_ENST00000379129.2_Silent_p.Q288Q|PAX6_ENST00000241001.8_Silent_p.Q274Q|PAX6_ENST00000419022.1_Silent_p.Q288Q|PAX6_ENST00000379115.4_Silent_p.Q288Q|PAX6_ENST00000379111.2_Silent_p.Q274Q|PAX6_ENST00000379123.5_Silent_p.Q274Q			P26367	PAX6_HUMAN	paired box 6	274					astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			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)					CCTGTCTTCTCTGATTCCTCA	0.473									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													ENST00000419022.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35						c.(862-864)caG>caA		paired box 6							275	280	278					11																	31815294		2202	4299	6501	SO:0001819	synonymous_variant	5080	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation	Familial Cancer Database	WAGR syndrome	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	g.chr11:31815294C>T	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"Paired boxes", "Homeoboxes / PRD class"	8620	protein-coding gene	gene with protein product	"aniridia, keratitis"	607108	"paired box gene 6 (aniridia, keratitis)"	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.822G>A	11.37:g.31815294C>T						PAX6_ENST00000379107.2_Silent_p.Q288Q|PAX6_ENST00000379115.4_Silent_p.Q288Q|PAX6_ENST00000379111.2_Silent_p.Q274Q|PAX6_ENST00000379123.5_Silent_p.Q274Q|PAX6_ENST00000379129.2_Silent_p.Q288Q|PAX6_ENST00000379132.3_Silent_p.Q274Q|PAX6_ENST00000241001.8_Silent_p.Q274Q	p.Q288Q	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN			11	1332	-	Lung SC(675;0.225)		274			Pro/Ser/Thr-rich.		Q6N006|Q99413	Silent	SNP	ENST00000379132.3	37	c.864G>A	CCDS31451.1																																																																																				0.473	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		48	45	0	0	0	1	0	48	45					T	31815294	C	T	31815294	2	4	481	1	0	0	0	0	0	0	0	1	11483	912	32	3		3	PAX6	11	31815294	Silent	SNP	C	TCGA-ZG-A9L1-01A-11D-A41K-08	30821121	31815294	103191222	22	32225											
OR4C12	283093	broad.mit.edu	37	chr11	50003458	50003458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcacagcaacaaagagacCaagggtatgagtgtctatgc	14	8	11	8	0	2	2	1	1	1	1	2	3	2	2	1	1	3	3	1	1	5	3			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr11:50003458C>A	ENST00000335238.4	-	1	613	c.580G>T	c.(580-582)Ggt>Tgt	p.G194C		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G194C(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ACAAAGAGACCAAGGGTATGA	0.408																																						ENST00000335238.4																			1	Substitution - Missense(1)	p.G194C(1)	lung(1)	NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(580-582)Ggt>Tgt		olfactory receptor, family 4, subfamily C, member 12							101	100	100					11																	50003458		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003458C>A	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.580G>T	11.37:g.50003458C>A	ENSP00000334418:p.Gly194Cys						p.G194C	NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN			1	613	-			194					B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.580G>T	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	16.26	3.072980	0.55646	.	.	ENSG00000221954	ENST00000335238	T	0.00130	8.69	2.98	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.160723	0.28577	U	0.014860	T	0.00496	0.0016	M	0.87456	2.885	0.43467	D	0.995677	D	0.89917	1.0	D	0.91635	0.999	T	0.73949	-0.3821	10	0.87932	D	0	.	11.934	0.52864	0.0:1.0:0.0:0.0	.	194	Q96R67	OR4CC_HUMAN	C	194	ENSP00000334418:G194C	ENSP00000334418:G194C	G	-	1	0	OR4C12	49960034	0.000000	0.05858	0.998000	0.56505	0.633000	0.38033	0.993000	0.29680	1.698000	0.51180	0.398000	0.26397	GGT		0.408	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		14	43	1	0	5.01169e-05	1	5.39721e-05	14	43					A	50003458	C	A	50003458	3	1	481	1	0	0	0	0	1	0	0	0	11046	594	21	5	353	5	OR4C12	11	50003458	Missense_Mutation	SNP	C	TCGA-ZG-A9L1-01A-11D-A41K-08	18188164	50003458	85003058	23	32226											
MMP20	9313	broad.mit.edu	37	chr11	102487662	102487663	+	Frame_Shift_Del	DEL	CC	CC	-																															attgtggtctggtctaacttCccggtgacttggaggccaaa																								rs200482846		TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr11:102487662_102487663delCC	ENST00000260228.2	-	2	266_267	c.254_255delGG	c.(253-255)gggfs	p.G85fs	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	75					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	GGTCTAACTTCCCGGTGACTTG	0.475																																						ENST00000260228.2																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(253-255)gfs		matrix metallopeptidase 20																																				SO:0001589	frameshift_variant	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102487662_102487663delCC	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"enamelysin"	604629	"matrix metalloproteinase 20 (enamelysin)"			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.254_255delGG	11.37:g.102487662_102487663delCC	ENSP00000260228:p.Gly85fs					RP11-817J15.2_ENST00000542119.1_RNA	p.G85fs	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	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)	2	266_267	-	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)	85					D3DUA8|Q9H3Q0	Frame_Shift_Del	DEL	ENST00000260228.2	37	c.254_255delGG	CCDS8318.1																																																																																				0.475	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			20	52						20	52	---	---	---	---	-	102487663	CC	-	102487662	7	5	481	1	0	1	0	1	0	0	0	0	9659	842	30	0	1232	0	MMP20	11	102487662	Frame_Shift_Del	DEL	CC	TCGA-ZG-A9L1-01A-11D-A41K-08	52484204	102487662	32518854	24	32227											
KCNH5	27133	broad.mit.edu	37	chr14	63447803	63447803	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtaccagccaggctatgttGttctgctttgttttgaagga	8	15	11	7	0	1	1	0	1	1	0	1	2	1	2	2	2	3	6	2	2	3	7			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr14:63447803G>A	ENST00000322893.7	-	6	997	c.729C>T	c.(727-729)aaC>aaT	p.N243N	KCNH5_ENST00000394968.1_Silent_p.N185N|KCNH5_ENST00000394964.2_Silent_p.N185N|KCNH5_ENST00000420622.2_Silent_p.N243N	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	243					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			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)		AGGCTATGTTGTTCTGCTTTG	0.413																																						ENST00000322893.7																			0				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						c.(727-729)aaC>aaT		potassium voltage-gated channel, subfamily H (eag-related), member 5							78	80	79					14																	63447803		2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63447803G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.729C>T	14.37:g.63447803G>A						KCNH5_ENST00000394968.1_Silent_p.N185N|KCNH5_ENST00000394964.2_Silent_p.N185N|KCNH5_ENST00000420622.2_Silent_p.N243N	p.N243N	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	6	997	-			243					C9JP98	Silent	SNP	ENST00000322893.7	37	c.729C>T	CCDS9756.1																																																																																				0.413	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		11	33	0	0	0	1	0	11	33					A	63447803	G	A	63447803	2	1	481	1	0	0	0	0	0	0	0	1	8035	1368	48	3		3	KCNH5	14	63447803	Silent	SNP	G	TCGA-ZG-A9L1-01A-11D-A41K-08		63447803	43901737	25	32228											
SQRDL	58472	broad.mit.edu	37	chr15	45974776	45974776	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggatgtggataaagaaaCtctgcaacacaggaggtacc	14	7	13	7	0	1	1	0	0	1	1	1	4	1	4	1	5	4	2	1	5	5	2			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr15:45974776C>A	ENST00000260324.7	+	7	1351	c.965C>A	c.(964-966)aCt>aAt	p.T322N	SQRDL_ENST00000568606.1_Missense_Mutation_p.T322N	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	322					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GATAAAGAAACTCTGCAACAC	0.512																																						ENST00000260324.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.(964-966)aCt>aAt		sulfide quinone reductase-like (yeast)							156	134	141					15																	45974776		2198	4297	6495	SO:0001583	missense	58472						oxidoreductase activity	g.chr15:45974776C>A	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.965C>A	15.37:g.45974776C>A	ENSP00000260324:p.Thr322Asn					SQRDL_ENST00000568606.1_Missense_Mutation_p.T322N	p.T322N	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	7	1351	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	322					Q9UQM8	Missense_Mutation	SNP	ENST00000260324.7	37	c.965C>A	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425961	0.83667	.	.	ENSG00000137767	ENST00000260324	T	0.57107	0.42	5.9	5.9	0.94986	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.043380	0.85682	D	0.000000	T	0.72890	0.3517	M	0.89715	3.055	0.80722	D	1	P	0.36712	0.566	P	0.47470	0.548	T	0.76219	-0.3039	10	0.72032	D	0.01	.	18.8407	0.92183	0.0:1.0:0.0:0.0	.	322	Q9Y6N5	SQRD_HUMAN	N	322	ENSP00000260324:T322N	ENSP00000260324:T322N	T	+	2	0	SQRDL	43762068	0.996000	0.38824	0.999000	0.59377	0.924000	0.55760	3.278000	0.51662	2.802000	0.96397	0.650000	0.86243	ACT		0.512	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			13	32	1	0	0.00010058	1	0.000103033	13	32					A	45974776	C	A	45974776	3	1	481	1	0	0	0	0	1	0	0	0	15128	565	20	5	987	5	SQRDL	15	45974776	Missense_Mutation	SNP	C	TCGA-ZG-A9L1-01A-11D-A41K-08		45974776	56556616	26	32229											
MYO1E	4643	broad.mit.edu	37	chr15	59480400	59480400	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttcagacccaaatattcGacttgatgctttaccctgtg	9	15	6	11	1	2	2	1	1	1	1	3	3	2	2	2	0	2	1	2	0	3	6	rs375000696		TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr15:59480400G>A	ENST00000288235.4	-	18	2220	c.1821C>T	c.(1819-1821)gtC>gtT	p.V607V		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	607	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CCAAATATTCGACTTGATGCT	0.468																																						ENST00000288235.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(1819-1821)gtC>gtT		myosin IE		G		1,4381	2.1+/-5.4	0,1,2190	138	131	133		1821	-9.6	0.3	15		133	2,8580	2.2+/-6.3	0,2,4289	no	coding-synonymous	MYO1E	NM_004998.2		0,3,6479	AA,AG,GG		0.0233,0.0228,0.0231		607/1109	59480400	3,12961	2191	4291	6482	SO:0001819	synonymous_variant	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59480400G>A	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1821C>T	15.37:g.59480400G>A							p.V607V	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	18	2220	-			607			Myosin head-like.		Q14778	Silent	SNP	ENST00000288235.4	37	c.1821C>T	CCDS32254.1																																																																																				0.468	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		8	72	0	0	0	1	0	8	72					A	59480400	G	A	59480400	2	1	481	1	0	0	0	0	0	0	0	1	10072	1045	37	2		2	MYO1E	15	59480400	Silent	SNP	G	TCGA-ZG-A9L1-01A-11D-A41K-08	13505624	59480400	43050992	27	32230											
UBN1	29855	broad.mit.edu	37	chr16	4910855	4910855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aactggagggtgcctctgacCccttgctctcactctttggc	5	12	10	14	0	3	1	1	1	3	0	4	2	3	2	3	3	3	1	3	3	1	2			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr16:4910855C>T	ENST00000396658.4	+	6	1565	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	UBN1_ENST00000590769.1_Missense_Mutation_p.P288S|UBN1_ENST00000545171.1_Missense_Mutation_p.P288S|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000262376.6_Missense_Mutation_p.P288S	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	288					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGCCTCTGACCCCTTGCTCTC	0.572																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(862-864)Ccc>Tcc		ubinuclein 1							161	131	141					16																	4910855		2197	4300	6497	SO:0001583	missense	29855				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	g.chr16:4910855C>T	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.862C>T	16.37:g.4910855C>T	ENSP00000379894:p.Pro288Ser					UBN1_ENST00000262376.6_Missense_Mutation_p.P288S|UBN1_ENST00000545171.1_Missense_Mutation_p.P288S|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000590769.1_Missense_Mutation_p.P288S	p.P288S	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1565	+			288					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.862C>T	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386895	0.82902	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.54279	1.2;0.58;1.2	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.70121	-0.4959	10	0.46703	T	0.11	-24.3936	20.3473	0.98799	0.0:1.0:0.0:0.0	.	288;288	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	S	288	ENSP00000262376:P288S;ENSP00000442379:P288S;ENSP00000379894:P288S	ENSP00000262376:P288S	P	+	1	0	UBN1	4850856	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	5.693000	0.68264	2.884000	0.98904	0.655000	0.94253	CCC		0.572	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		22	62	0	0	0	1	0	22	62					T	4910855	C	T	4910855	3	4	481	1	0	0	0	0	1	0	0	0	16889	623	22	3	884	3	UBN1	16	4910855	Missense_Mutation	SNP	C	TCGA-ZG-A9L1-01A-11D-A41K-08		4910855	85443898	28	32231											
TP53	7157	broad.mit.edu	37	chr17	7578443	7578443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgtgctgtgactgcttgtAgatggccatggcgcggacgc	6	10	15	10	3	0	2	0	1	0	1	0	3	0	3	1	3	2	3	1	3	1	2			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr17:7578443A>G	ENST00000269305.4	-	5	676	c.487T>C	c.(487-489)Tac>Cac	p.Y163H	TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.Y163H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(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)	Acetylsalicylic acid(DB00945)	GACTGCTTGTAGATGGCCATG	0.622		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		71	Substitution - Missense(46)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Complex - deletion inframe(5)|Insertion - Frameshift(1)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1)	breast(14)|lung(12)|liver(8)|skin(6)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|ovary(3)|stomach(2)|adrenal_gland(1)|biliary_tract(1)|prostate(1)|pancreas(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						c.(487-489)Tac>Cac	Other conserved DNA damage response genes	tumor protein p53							53	54	53					17																	7578443		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578443A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.487T>C	17.37:g.7578443A>G	ENSP00000269305:p.Tyr163His	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)				TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000269305.4_Missense_Mutation_p.Y163H	p.Y163H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	619	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.487T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916592	0.52546	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.59	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99843	0.9928	M	0.89478	3.035	0.53005	D	0.999963	D;D;D;D;D;D;D	0.89917	0.997;1.0;0.998;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.996;0.999;0.983;0.999;0.999;0.999;0.994	D	0.97202	0.9865	10	0.87932	D	0	-16.6607	9.9777	0.41795	0.9196:0.0:0.0804:0.0	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163H;ENSP00000352610:Y163H;ENSP00000269305:Y163H;ENSP00000398846:Y163H;ENSP00000391127:Y163H;ENSP00000391478:Y163H;ENSP00000425104:Y31H;ENSP00000423862:Y70H;ENSP00000424104:Y163H	ENSP00000269305:Y163H	Y	-	1	0	TP53	7519168	1.000000	0.71417	0.998000	0.56505	0.047000	0.14425	9.287000	0.95975	1.067000	0.40740	-0.256000	0.11100	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	12	0	0	0	1	0	18	12					G	7578443	A	G	7578443	3	3	481	1	0	0	0	0	1	0	0	0	16378	420	15	4	811	4	TP53	17	7578443	Missense_Mutation	SNP	A	TCGA-ZG-A9L1-01A-11D-A41K-08		7578443	73616767	29	32232											
CNTNAP1	8506	broad.mit.edu	37	chr17	40837076	40837076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacttccacttcactgcgcGctacatccgcatcgtgcccc	6	9	7	19	4	1	0	1	0	0	0	4	0	3	0	4	0	3	3	4	0	1	3			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr17:40837076G>A	ENST00000264638.4	+	4	648	c.431G>A	c.(430-432)cGc>cAc	p.R144H	CTD-3193K9.3_ENST00000592440.1_RNA|CCR10_ENST00000591765.1_5'Flank	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	144	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTCACTGCGCGCTACATCCGC	0.622																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(430-432)cGc>cAc		contactin associated protein 1							98	83	88					17																	40837076		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40837076G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.431G>A	17.37:g.40837076G>A	ENSP00000264638:p.Arg144His					CTD-3193K9.3_ENST00000592440.1_RNA	p.R144H	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	4	648	+		Breast(137;0.000143)	144			F5/8 type C.			Missense_Mutation	SNP	ENST00000264638.4	37	c.431G>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784848	0.90282	.	.	ENSG00000108797	ENST00000264638	D	0.99194	-5.54	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000005	D	0.99474	0.9813	M	0.92122	3.275	0.35440	D	0.794776	D	0.89917	1.0	D	0.74348	0.983	D	0.99940	1.1399	10	0.87932	D	0	.	19.4357	0.94794	0.0:0.0:1.0:0.0	.	144	P78357	CNTP1_HUMAN	H	144	ENSP00000264638:R144H	ENSP00000264638:R144H	R	+	2	0	CNTNAP1	38090602	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	5.165000	0.64959	2.586000	0.87340	0.561000	0.74099	CGC		0.622	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		4	46	0	0	0	1	0	4	46					A	40837076	G	A	40837076	3	1	481	1	0	0	0	0	1	0	0	0	3646	1087	38	1	445	1	CNTNAP1	17	40837076	Missense_Mutation	SNP	G	TCGA-ZG-A9L1-01A-11D-A41K-08	33258633	40837076	40358134	30	32233											
MED13	9969	broad.mit.edu	37	chr17	60038232	60038232	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggaaatacaaatacctatTtggaacatcgatgttaatga	17	11	8	5	1	0	1	0	1	0	0	1	4	0	3	1	2	3	1	1	2	7	5			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr17:60038232T>A	ENST00000397786.2	-	23	5552	c.5476A>T	c.(5476-5478)Aat>Tat	p.N1826Y		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1826					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			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						AAATACCTATTTGGAACATCG	0.289																																						ENST00000397786.2																			0				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						c.(5476-5478)Aat>Tat		mediator complex subunit 13							64	59	60					17																	60038232		1812	4077	5889	SO:0001583	missense	9969				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	g.chr17:60038232T>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5476A>T	17.37:g.60038232T>A	ENSP00000380888:p.Asn1826Tyr						p.N1826Y	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			23	5552	-			1826					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.5476A>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287600	0.80803	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.84370	-1.84	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.92368	0.7578	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.93352	0.6719	10	0.72032	D	0.01	.	15.3239	0.74144	0.0:0.0:0.0:1.0	.	1826	Q9UHV7	MED13_HUMAN	Y	1826;1825	ENSP00000380888:N1826Y	ENSP00000262436:N1825Y	N	-	1	0	MED13	57393014	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.771000	0.62318	2.016000	0.59253	0.519000	0.50382	AAT		0.289	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		10	7	0	0	0	1	0	10	7					A	60038232	T	A	60038232	3	1	481	1	0	0	0	0	1	0	0	0	9430	1841	64	5	1080	5	MED13	17	60038232	Missense_Mutation	SNP	T	TCGA-ZG-A9L1-01A-11D-A41K-08	19201156	60038232	21156978	31	32234											
DOK6	220164	broad.mit.edu	37	chr18	67365790	67365790	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcagctcactgaggagatAcggtcgggactcaacgtggt	9	9	13	10	3	3	2	3	1	1	1	5	4	3	3	0	4	3	1	0	4	2	1			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr18:67365790A>G	ENST00000382713.5	+	5	750	c.560A>G	c.(559-561)tAc>tGc	p.Y187C	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	187	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CTGAGGAGATACGGTCGGGAC	0.468																																						ENST00000382713.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(559-561)tAc>tGc		docking protein 6							93	78	83					18																	67365790		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67365790A>G	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"Pleckstrin homology (PH) domain containing"	28301	protein-coding gene	gene with protein product		611402	"docking protein 5-like"	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.560A>G	18.37:g.67365790A>G	ENSP00000372160:p.Tyr187Cys					DOK6_ENST00000584435.1_3'UTR	p.Y187C	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN			5	750	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	187			IRS-type PTB.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.560A>G	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.194543	0.38806	.	.	ENSG00000206052	ENST00000382713	D	0.89681	-2.55	5.72	5.72	0.89469	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.94899	0.8351	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94213	0.7460	10	0.30078	T	0.28	.	15.1721	0.72881	1.0:0.0:0.0:0.0	.	187	Q6PKX4	DOK6_HUMAN	C	187	ENSP00000372160:Y187C	ENSP00000372160:Y187C	Y	+	2	0	DOK6	65516770	1.000000	0.71417	0.943000	0.38184	0.737000	0.42083	9.201000	0.95017	2.187000	0.69744	0.482000	0.46254	TAC		0.468	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		7	33	0	0	0	1	0	7	33					G	67365790	A	G	67365790	3	3	481	1	0	0	0	0	1	0	0	0	4701	391	14	4	578	4	DOK6	18	67365790	Missense_Mutation	SNP	A	TCGA-ZG-A9L1-01A-11D-A41K-08		67365790	10711458	32	32235											
PTPRH	5794	broad.mit.edu	37	chr19	55699455	55699455	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctccccacctggtacttGtctgcaaaaccacagttgct	8	11	6	16	0	2	0	0	0	2	0	3	0	2	0	5	1	4	4	5	1	3	3	rs149252651		TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr19:55699455G>A	ENST00000376350.3	-	13	2488	c.2466C>T	c.(2464-2466)gaC>gaT	p.D822D	PTPRH_ENST00000263434.5_Silent_p.D644D	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	822	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D822D(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCTGGTACTTGTCTGCAAAAC	0.632																																						ENST00000376350.3																			1	Substitution - coding silent(1)	p.D822D(1)	large_intestine(1)	breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(2464-2466)gaC>gaT		protein tyrosine phosphatase, receptor type, H		G	,	1,4405		0,1,2202	148	113	125		1932,2466	-3	0.2	19	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PTPRH	NM_001161440.1,NM_002842.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	644/938,822/1116	55699455	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55699455G>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2466C>T	19.37:g.55699455G>A						PTPRH_ENST00000263434.5_Silent_p.D644D	p.D822D	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	13	2488	-		Renal(1328;0.245)	822			Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	c.2466C>T	CCDS33110.1																																																																																				0.632	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			24	39	0	0	0	1	0	24	39					A	55699455	G	A	55699455	2	1	481	1	0	0	0	0	0	0	0	1	12803	1368	48	3		3	PTPRH	19	55699455	Silent	SNP	G	TCGA-ZG-A9L1-01A-11D-A41K-08		55699455	3429528	33	32236											
BTBD3	22903	broad.mit.edu	37	chr20	11904136	11904136	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgcagatcgagccagAcaccttctacacagccagtg	11	6	9	15	1	1	2	0	0	1	2	2	3	1	2	4	0	4	1	4	0	1	2			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr20:11904136A>G	ENST00000405977.1	+	5	2016	c.1391A>G	c.(1390-1392)gAc>gGc	p.D464G	BTBD3_ENST00000254977.3_Missense_Mutation_p.D403G|BTBD3_ENST00000399006.2_Missense_Mutation_p.D403G|BTBD3_ENST00000378226.2_Missense_Mutation_p.D464G	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	464					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						ATCGAGCCAGACACCTTCTAC	0.502																																						ENST00000405977.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(1390-1392)gAc>gGc		BTB (POZ) domain containing 3							130	116	121					20																	11904136		2203	4300	6503	SO:0001583	missense	22903							g.chr20:11904136A>G	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"BTB/POZ domain containing"	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.1391A>G	20.37:g.11904136A>G	ENSP00000384545:p.Asp464Gly					BTBD3_ENST00000254977.3_Missense_Mutation_p.D403G|BTBD3_ENST00000399006.2_Missense_Mutation_p.D403G|BTBD3_ENST00000378226.2_Missense_Mutation_p.D464G	p.D464G			Q9Y2F9	BTBD3_HUMAN			5	2016	+			464					D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.1391A>G	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.775876	0.49786	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226	T;T;T;T	0.77877	-1.06;-1.06;-1.13;-1.13	6.02	6.02	0.97574	PHR (1);	0.000000	0.85682	D	0.000000	T	0.69860	0.3158	L	0.27944	0.81	0.80722	D	1	B	0.31730	0.337	B	0.37943	0.261	T	0.65998	-0.6032	10	0.18276	T	0.48	.	15.7258	0.77756	1.0:0.0:0.0:0.0	.	464	Q9Y2F9	BTBD3_HUMAN	G	403;403;464;464	ENSP00000254977:D403G;ENSP00000381971:D403G;ENSP00000384545:D464G;ENSP00000367471:D464G	ENSP00000254977:D403G	D	+	2	0	BTBD3	11852136	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.311000	0.77944	0.533000	0.62120	GAC		0.502	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			14	26	0	0	0	1	0	14	26					G	11904136	A	G	11904136	3	3	481	1	0	0	0	0	1	0	0	0	1544	275	10	4	1405	4	BTBD3	20	11904136	Missense_Mutation	SNP	A	TCGA-ZG-A9L1-01A-11D-A41K-08		11904136	51121384	34	32237											
BAGE	85319	broad.mit.edu	37	chr21	11098732	11098732	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccatcttactgctccggcCgccatcttactgctccagcc	5	10	7	19	3	2	0	0	0	2	0	4	0	4	0	6	1	5	2	6	1	2	2	rs73891536	byFrequency	TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr21:11098732C>T	ENST00000470054.1	-	0	193							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								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)		ctgctccggccgccatcttac	0.632																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098732C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098732C>T												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)	0	193	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.632	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		22	66	0	0	0	1	0	22	66					T	11098732	C	T	11098732	1	4	481	0	1	0	0	0	0	0	0	0	1291	639	23	2		2	BAGE	21	11098732	RNA	SNP	C	TCGA-ZG-A9L1-01A-11D-A41K-08		11098732	37031163	35	32238											
CHIA	27159	broad.mit.edu	37	chr1	111862949	111862949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaggcagtggattctgtgCtgtcagagccaacggcctct	7	9	15	10	1	3	1	1	0	2	1	3	3	3	3	2	4	3	2	2	4	1	1			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr1:111862949C>T	ENST00000369740.1	+	12	1395	c.1292C>T	c.(1291-1293)gCt>gTt	p.A431V	CHIA_ENST00000430615.1_Missense_Mutation_p.A323V|CHIA_ENST00000353665.6_Missense_Mutation_p.A270V|CHIA_ENST00000343320.6_Missense_Mutation_p.A431V|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000451398.2_Missense_Mutation_p.A270V|CHIA_ENST00000483391.1_Missense_Mutation_p.A270V	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	431	Chitin-binding type-2. {ECO:0000255|PROSITE-ProRule:PRU00144}.				apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GGATTCTGTGCTGTCAGAGCC	0.602																																						ENST00000369740.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(1291-1293)gCt>gTt		chitinase, acidic							68	62	64					1																	111862949		2203	4300	6503	SO:0001583	missense	27159				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	g.chr1:111862949C>T	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.1292C>T	1.37:g.111862949C>T	ENSP00000358755:p.Ala431Val					CHIA_ENST00000353665.6_Missense_Mutation_p.A270V|CHIA_ENST00000343320.6_Missense_Mutation_p.A431V|CHIA_ENST00000483391.1_Missense_Mutation_p.A270V|CHIA_ENST00000451398.2_Missense_Mutation_p.A270V|CHIA_ENST00000430615.1_Missense_Mutation_p.A323V|RP5-1125M8.2_ENST00000426321.1_RNA	p.A431V	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN		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)	12	1395	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	431			Chitin-binding type-2.		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	c.1292C>T	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123804	0.56613	.	.	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;3.58;1.47	4.77	3.84	0.44239	Chitin binding domain (5);	0.000000	0.64402	U	0.000011	T	0.18676	0.0448	M	0.65320	2	0.40733	D	0.982761	B	0.30763	0.294	B	0.35770	0.21	T	0.03875	-1.0996	10	0.37606	T	0.19	-3.9267	10.1935	0.43041	0.0:0.9005:0.0:0.0995	.	431	Q9BZP6	CHIA_HUMAN	V	375;270;431;431;270;270;270;323	ENSP00000387671:A375V;ENSP00000436946:A270V;ENSP00000358755:A431V;ENSP00000341828:A431V;ENSP00000390476:A270V;ENSP00000338970:A270V;ENSP00000433309:A270V;ENSP00000391132:A323V	ENSP00000341828:A431V	A	+	2	0	CHIA	111664472	0.763000	0.28462	0.874000	0.34290	0.991000	0.79684	1.402000	0.34600	1.331000	0.45412	0.655000	0.94253	GCT		0.602	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			7	29	0	0	0	1	0	7	29					T	111862949	C	T	111862949	3	4	482	1	0	0	0	0	1	0	0	0	3342	797	28	3	1334	3	CHIA	1	111862949	Missense_Mutation	SNP	C	TCGA-ZG-A9L2-01A-31D-A41K-08		111862949	137387672	1	32239											
LCE1D	353134	broad.mit.edu	37	chr1	152770577	152770577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggggctccagctgctgcGgtgggggcagcagccagcac	5	4	19	13	2	0	0	0	0	0	0	1	0	1	0	2	6	6	6	2	6	0	0			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr1:152770577G>A	ENST00000326233.6	+	2	350	c.307G>A	c.(307-309)Ggt>Agt	p.G103S		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	103	Cys-rich.				cellular response to calcium ion (GO:0071277)|cognition (GO:0050890)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)				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)			CAGCTGCTGCGGTGGGGGCAG	0.632																																						ENST00000326233.6																			0				large_intestine(1)	1						c.(307-309)Ggt>Agt		late cornified envelope 1D							44	40	41					1																	152770577		2015	3698	5713	SO:0001583	missense	353134				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm		g.chr1:152770577G>A		CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155		"Late cornified envelopes"	29465	protein-coding gene	gene with protein product		612606				11698679	Standard	NM_178352		Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.307G>A	1.37:g.152770577G>A	ENSP00000316737:p.Gly103Ser						p.G103S	NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	350	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		103			Cys-rich.			Missense_Mutation	SNP	ENST00000326233.6	37	c.307G>A	CCDS1025.1	.	.	.	.	.	.	.	.	.	.	G	6.822	0.520796	0.13005	.	.	ENSG00000172155	ENST00000326233	T	0.03524	3.9	4.69	3.77	0.43336	.	.	.	.	.	T	0.02119	0.0066	L	0.28274	0.84	0.22081	N	0.999371	D	0.60160	0.987	P	0.51101	0.659	T	0.46582	-0.9181	9	0.87932	D	0	.	9.1424	0.36912	0.1039:0.0:0.8961:0.0	.	103	Q5T752	LCE1D_HUMAN	S	103	ENSP00000316737:G103S	ENSP00000316737:G103S	G	+	1	0	LCE1D	151037201	0.956000	0.32656	0.972000	0.41901	0.069000	0.16628	4.215000	0.58534	1.094000	0.41399	-0.266000	0.10368	GGT		0.632	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034657.2	NM_178352		7	12	0	0	0	1	0	7	12					A	152770577	G	A	152770577	3	1	482	1	0	0	0	0	1	0	0	0	8662	1116	39	2	309	2	LCE1D	1	152770577	Missense_Mutation	SNP	G	TCGA-ZG-A9L2-01A-31D-A41K-08	40907628	152770577	96480044	2	32240											
SOS1	6654	broad.mit.edu	37	chr2	39262596	39262596	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgatcatgaaaaccaggtcGcaaaatatctcgagcatacg	16	7	8	10	4	2	1	1	1	1	0	4	3	2	1	1	1	3	2	1	1	6	2			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr2:39262596G>A	ENST00000426016.1	-	8	996	c.910C>T	c.(910-912)Cga>Tga	p.R304*	SOS1_ENST00000428721.2_Nonsense_Mutation_p.R247*|SOS1_ENST00000402219.2_Nonsense_Mutation_p.R304*|SOS1_ENST00000395038.2_Nonsense_Mutation_p.R304*			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	304	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AAACCAGGTCGCAAAATATCT	0.338									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(910-912)Cga>Tga		son of sevenless homolog 1 (Drosophila)							72	75	74					2																	39262596		2203	4300	6503	SO:0001587	stop_gained	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	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	g.chr2:39262596G>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.910C>T	2.37:g.39262596G>A	ENSP00000387784:p.Arg304*					SOS1_ENST00000428721.2_Nonsense_Mutation_p.R247*|SOS1_ENST00000402219.2_Nonsense_Mutation_p.R304*|SOS1_ENST00000395038.2_Nonsense_Mutation_p.R304*	p.R304*			Q07889	SOS1_HUMAN			8	996	-		all_hematologic(82;0.21)	304			DH.		A8K2G3|B4DXG2	Nonsense_Mutation	SNP	ENST00000426016.1	37	c.910C>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	37	6.010878	0.97200	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879;ENST00000428721	.	.	.	5.55	5.55	0.83447	.	0.065812	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.5053	0.95113	0.0:0.0:1.0:0.0	.	.	.	.	X	304;304;36;304;304;247	.	ENSP00000263879:R304X	R	-	1	2	SOS1	39116100	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.982000	0.76173	2.613000	0.88420	0.650000	0.86243	CGA		0.338	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		4	59	0	0	0	1	0	4	59					A	39262596	G	A	39262596	4	1	482	1	0	0	0	0	0	1	0	0	14936	1095	38	1	3159	1	SOS1	2	39262596	Nonsense_Mutation	SNP	G	TCGA-ZG-A9L2-01A-31D-A41K-08		39262596	203936777	3	32241											
ALMS1	7840	broad.mit.edu	37	chr2	73717486	73717486	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagccaaaaattacctgtTgattttgagcgttcttttca	12	15	6	8	1	2	2	1	2	1	0	2	2	2	2	2	0	3	2	2	0	4	7			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr2:73717486T>A	ENST00000264448.6	+	10	8508	c.8397T>A	c.(8395-8397)gtT>gtA	p.V2799V	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Silent_p.V2757V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2799					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				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						AATTACCTGTTGATTTTGAGC	0.363																																						ENST00000264448.6																			0				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						c.(8395-8397)gtT>gtA		Alstrom syndrome 1							57	55	55					2																	73717486		1812	4074	5886	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717486T>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8397T>A	2.37:g.73717486T>A						ALMS1_ENST00000409009.1_Silent_p.V2757V	p.V2799V	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			10	8508	+			2799					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.8397T>A	CCDS42697.1																																																																																				0.363	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		9	36	0	0	0	1	0	9	36					A	73717486	T	A	73717486	2	1	482	1	0	0	0	0	0	0	0	1	535	1799	63	5		5	ALMS1	2	73717486	Silent	SNP	T	TCGA-ZG-A9L2-01A-31D-A41K-08	34454890	73717486	169481887	4	32242											
TMEM111	55831	broad.mit.edu	37	chr3	10011467	10011468	+	Frame_Shift_Ins	INS	-	-	T																															cgtcatctgctcctgcatcaINSttcgtgattggtcagcggct																										TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr3:10011467_10011468insT	ENST00000245046.2	-	7	1050_1051	c.592_593insA	c.(592-594)atgfs	p.M198fs	EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	198						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CTCCTGCATCATTCGTGATTGG	0.525																																						ENST00000245046.2																			0											c.(592-594)gatfs		ER membrane protein complex subunit 3																																				SO:0001589	frameshift_variant	55831							g.chr3:10011467_10011468insT	AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"transmembrane protein 111"	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.593dupA	3.37:g.10011469_10011469dupT	ENSP00000245046:p.Met198fs					EMC3_ENST00000497557.1_5'UTR	p.D198fs	NM_018447.2	NP_060917.1					7	1050_1051	-								B2R4Z9|Q53GH8|Q6ZMC2	Frame_Shift_Ins	INS	ENST00000245046.2	37	c.592_593insA	CCDS2594.1																																																																																				0.525	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250532.1	NM_018447		20	71						20	71	---	---	---	---	T	10011468	-	T	10011467	7	5	482	1	0	1	1	0	0	0	0	0	16025	217	8	0	200	0	TMEM111	3	10011467	Frame_Shift_Ins	INS	-	TCGA-ZG-A9L2-01A-31D-A41K-08		10011467	188010963	5	32243											
ANKRD28	23243	broad.mit.edu	37	chr3	15749534	15749534	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaagagcaaacaggcactGgtaattgcagttggcagcag	14	6	12	9	0	0	1	0	0	0	1	0	1	0	1	0	3	4	7	0	3	3	3			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr3:15749534G>C	ENST00000399451.2	-	14	1721	c.1354C>G	c.(1354-1356)Cag>Gag	p.Q452E	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.Q485E	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	452						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AACAGGCACTGGTAATTGCAG	0.458																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(1354-1356)Cag>Gag		ankyrin repeat domain 28							87	87	87					3																	15749534		2051	4199	6250	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15749534G>C	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1354C>G	3.37:g.15749534G>C	ENSP00000382379:p.Gln452Glu					ANKRD28_ENST00000383777.1_Missense_Mutation_p.Q485E|ANKRD28_ENST00000497037.1_5'UTR	p.Q452E	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN			14	1721	-			452					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.1354C>G	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037253	0.93630	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.57273	0.41;0.41;0.41	5.83	5.83	0.93111	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.35682	0.0940	N	0.00859	-1.14	0.80722	D	1	D;P;P	0.54964	0.969;0.935;0.863	P;P;P	0.52031	0.688;0.476;0.61	T	0.53443	-0.8438	10	0.19590	T	0.45	.	20.1338	0.98010	0.0:0.0:1.0:0.0	.	485;482;452	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	E	452;485;452	ENSP00000382379:Q452E;ENSP00000373287:Q485E;ENSP00000397341:Q452E	ENSP00000373287:Q485E	Q	-	1	0	ANKRD28	15724538	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.770000	0.95276	0.655000	0.94253	CAG		0.458	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		4	8	0	0	0	1	0	4	8					C	15749534	G	C	15749534	3	2	482	1	0	0	0	0	1	0	0	0	656	1357	47	5	1867	5	ANKRD28	3	15749534	Missense_Mutation	SNP	G	TCGA-ZG-A9L2-01A-31D-A41K-08	5738067	15749534	182272896	6	32244											
COPG	22820	broad.mit.edu	37	chr3	128990698	128990698	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctcaccgagtcagagacGgagtatgtcatccgctgcac	9	7	11	14	3	3	1	3	0	0	1	4	4	4	2	3	1	1	3	3	1	1	1	rs563330778		TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr3:128990698G>A	ENST00000314797.6	+	19	2036	c.1932G>A	c.(1930-1932)acG>acA	p.T644T		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	644	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										AGTCAGAGACGGAGTATGTCA	0.607													G|||	1	0.000199681	0	0	5008	,	,		19293	0		0.001	False		,,,				2504	0					ENST00000314797.6																			0											c.(1930-1932)acG>acA		coatomer protein complex, subunit gamma 1							74	60	65					3																	128990698		2203	4300	6503	SO:0001819	synonymous_variant	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128990698G>A	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1932G>A	3.37:g.128990698G>A							p.T644T	NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN			19	2036	+			644			Interaction with ZNF289/ARFGAP2.		A8K6M8|B3KMF6|Q54AC4	Silent	SNP	ENST00000314797.6	37	c.1932G>A	CCDS33851.1																																																																																				0.607	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		5	22	0	0	0	1	0	5	22					A	128990698	G	A	128990698	2	1	482	1	0	0	0	0	0	0	0	1	3731	1103	39	2		2	COPG	3	128990698	Silent	SNP	G	TCGA-ZG-A9L2-01A-31D-A41K-08	113241164	128990698	69031732	7	32245											
MYO10	4651	broad.mit.edu	37	chr5	16675127	16675127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagctcgtcccgcagaggtCgcaggtcatgccctgtctgt	6	9	12	14	3	2	1	1	0	1	1	5	1	3	1	2	2	2	3	2	2	0	0			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr5:16675127C>T	ENST00000513610.1	-	35	5253	c.4799G>A	c.(4798-4800)cGa>cAa	p.R1600Q	MYO10_ENST00000515803.1_Missense_Mutation_p.R939Q|MYO10_ENST00000274203.9_Missense_Mutation_p.R957Q|MYO10_ENST00000427430.2_Missense_Mutation_p.R957Q|MYO10_ENST00000505695.1_Missense_Mutation_p.R939Q	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1600	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			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						CCGCAGAGGTCGCAGGTCATG	0.542																																						ENST00000513610.1																			0				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						c.(4798-4800)cGa>cAa		myosin X							83	81	81					5																	16675127		2050	4198	6248	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16675127C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4799G>A	5.37:g.16675127C>T	ENSP00000421280:p.Arg1600Gln					MYO10_ENST00000427430.2_Missense_Mutation_p.R957Q|MYO10_ENST00000505695.1_Missense_Mutation_p.R939Q|MYO10_ENST00000515803.1_Missense_Mutation_p.R939Q|MYO10_ENST00000274203.9_Missense_Mutation_p.R957Q	p.R1600Q	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			35	5253	-			1600			MyTH4.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.4799G>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671472	0.67814	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91	5.91	5.91	0.95273	MyTH4 domain (3);	.	.	.	.	D	0.94208	0.8141	L	0.45698	1.435	0.53688	D	0.99997	D;D;D	0.76494	0.967;0.996;0.999	P;P;D	0.64506	0.555;0.878;0.926	D	0.91792	0.5444	9	0.25751	T	0.34	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	479;1240;1600	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	Q	1600;939;957;939;957	ENSP00000421280:R1600Q;ENSP00000425051:R939Q;ENSP00000274203:R957Q;ENSP00000421170:R939Q;ENSP00000391106:R957Q	ENSP00000274203:R957Q	R	-	2	0	MYO10	16728127	1.000000	0.71417	0.949000	0.38748	0.544000	0.35116	4.739000	0.62080	2.802000	0.96397	0.655000	0.94253	CGA		0.542	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		3	36	0	0	0	1	0	3	36					T	16675127	C	T	16675127	3	4	482	1	0	0	0	0	1	0	0	0	10062	884	31	2	1405	2	MYO10	5	16675127	Missense_Mutation	SNP	C	TCGA-ZG-A9L2-01A-31D-A41K-08		16675127	164240133	8	32246											
FBXL17	64839	broad.mit.edu	37	chr5	107700657	107700657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatttcaattatattctGacttcttgatgcaatttttt	9	22	5	5	0	3	3	1	3	2	0	3	3	3	3	0	0	1	2	0	0	4	10			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr5:107700657G>T	ENST00000542267.1	-	3	1562	c.1156C>A	c.(1156-1158)Cag>Aag	p.Q386K	FBXL17_ENST00000496714.1_5'UTR|FBXL17_ENST00000359660.5_5'UTR	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	386										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		ATTATATTCTGACTTCTTGAT	0.303																																						ENST00000542267.1																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(1156-1158)Cag>Aag		F-box and leucine-rich repeat protein 17							62	63	62					5																	107700657		2202	4298	6500	SO:0001583	missense	64839							g.chr5:107700657G>T	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"F-boxes / Leucine-rich repeats"	13615	protein-coding gene	gene with protein product		609083	"F-box only protein 13"	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1156C>A	5.37:g.107700657G>T	ENSP00000437464:p.Gln386Lys					FBXL17_ENST00000496714.1_5'UTR|FBXL17_ENST00000359660.5_5'UTR	p.Q386K	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	3	1562	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	386					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1156C>A	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926756	0.73327	.	.	ENSG00000145743	ENST00000542267	T	0.02236	4.38	5.48	5.48	0.80851	.	.	.	.	.	T	0.01940	0.0061	N	0.14661	0.345	0.80722	D	1	B	0.30824	0.296	B	0.26094	0.066	T	0.61559	-0.7038	9	0.09590	T	0.72	.	19.7187	0.96134	0.0:0.0:1.0:0.0	.	386	Q9UF56	FXL17_HUMAN	K	386	ENSP00000437464:Q386K	ENSP00000437464:Q386K	Q	-	1	0	FBXL17	107728556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.378000	0.97191	2.731000	0.93534	0.585000	0.79938	CAG		0.303	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				16	51	1	0	4.7546e-09	1	5.00485e-09	16	51					T	107700657	G	T	107700657	3	4	482	1	0	0	0	0	1	0	0	0	5713	1299	45	5	977	5	FBXL17	5	107700657	Missense_Mutation	SNP	G	TCGA-ZG-A9L2-01A-31D-A41K-08	91025530	107700657	73214603	9	32247											
PCDHGA3	56112	broad.mit.edu	37	chr5	140723673	140723673	+	Missense_Mutation	SNP	G	G	C																															cgctcctggggacgctgtgcGaaacaggatccggtcagatc																										TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr5:140723673G>C	ENST00000253812.6	+	1	73	c.73G>C	c.(73-75)Gaa>Caa	p.E25Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	25					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCTGTGCGAAACAGGATC	0.567											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253812.6																			0				breast(1)	1						c.(73-75)Gaa>Caa									121	134	129					5																	140723673		2084	4254	6338	SO:0001583	missense	0							g.chr5:140723673G>C	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.73G>C	5.37:g.140723673G>C	ENSP00000253812:p.Glu25Gln		OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.E25Q	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	73	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.73G>C	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	0.022	-1.412530	0.01145	.	.	ENSG00000254245	ENST00000253812	T	0.48522	0.81	5.54	-0.0829	0.13696	Cadherin (1);	0.987069	0.08179	U	0.985774	T	0.38585	0.1046	L	0.49778	1.585	0.09310	N	1	B;B	0.16396	0.008;0.017	B;B	0.21151	0.033;0.025	T	0.31194	-0.9952	10	0.26408	T	0.33	.	6.2094	0.20621	0.2595:0.2389:0.5016:0.0	.	25;25	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	Q	25	ENSP00000253812:E25Q	ENSP00000253812:E25Q	E	+	1	0	PCDHGA3	140703857	.	.	0.000000	0.03702	0.049000	0.14656	.	.	-0.249000	0.09569	-0.982000	0.02568	GAA		0.567	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		26	120	0	0	0	1	0	26	120					C	140723673	G	C	140723673	3	2	482	1	0	0	0	0	1	0	0	0	11555	1059	37	5	75	5	PCDHGA3	5	140723673	Missense_Mutation	SNP	G	TCGA-ZG-A9L2-01A-31D-A41K-08	33023016	140723673	40191587	10	32248	156	2									
PCDHGA3	56112	broad.mit.edu	37	chr5	140723674	140723674	+	Missense_Mutation	SNP	A	A	T																															gctcctggggacgctgtgcgAaacaggatccggtcagatcc																										TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr5:140723674A>T	ENST00000253812.6	+	1	74	c.74A>T	c.(73-75)gAa>gTa	p.E25V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	25					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCTGTGCGAAACAGGATCC	0.572											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253812.6																			0				breast(1)	1						c.(73-75)gAa>gTa									121	133	129					5																	140723674		2087	4254	6341	SO:0001583	missense	0							g.chr5:140723674A>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.74A>T	5.37:g.140723674A>T	ENSP00000253812:p.Glu25Val		OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.E25V	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	74	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.74A>T	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	3.656	-0.070619	0.07228	.	.	ENSG00000254245	ENST00000253812	T	0.50277	0.75	5.54	4.36	0.52297	Cadherin (1);	0.987069	0.08179	U	0.985774	T	0.50171	0.1600	M	0.62266	1.93	0.09310	N	1	B;B	0.30455	0.156;0.28	B;B	0.32805	0.153;0.117	T	0.43605	-0.9381	10	0.42905	T	0.14	.	12.423	0.55529	0.8544:0.1456:0.0:0.0	.	25;25	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	V	25	ENSP00000253812:E25V	ENSP00000253812:E25V	E	+	2	0	PCDHGA3	140703858	0.014000	0.17966	0.001000	0.08648	0.070000	0.16714	0.153000	0.16323	1.011000	0.39340	0.533000	0.62120	GAA		0.572	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		26	121	0	0	0	1	0	26	121					T	140723674	A	T	140723674	3	4	482	1	0	0	0	0	1	0	0	0	11555	246	9	5	76	5	PCDHGA3	5	140723674	Missense_Mutation	SNP	A	TCGA-ZG-A9L2-01A-31D-A41K-08	1	140723674	40191586	11	32249	156	2									
CPEB4	80315	broad.mit.edu	37	chr5	173317158	173317158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgaatctccagtgttgaCagggtttgattatcaagaag	12	12	11	6	1	2	3	1	2	1	1	4	5	2	3	1	1	0	2	1	1	4	3			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr5:173317158C>A	ENST00000265085.5	+	1	1876	c.422C>A	c.(421-423)aCa>aAa	p.T141K	CPEB4_ENST00000334035.5_Missense_Mutation_p.T141K|CPEB4_ENST00000520867.1_Missense_Mutation_p.T141K|CPEB4_ENST00000519835.1_Missense_Mutation_p.T141K|CPEB4_ENST00000517880.1_5'Flank|CPEB4_ENST00000522336.1_5'Flank	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	141					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			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)			CCAGTGTTGACAGGGTTTGAT	0.453																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(421-423)aCa>aAa		cytoplasmic polyadenylation element binding protein 4							102	105	104					5																	173317158		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173317158C>A	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.422C>A	5.37:g.173317158C>A	ENSP00000265085:p.Thr141Lys					CPEB4_ENST00000334035.5_Missense_Mutation_p.T141K|CPEB4_ENST00000519835.1_Missense_Mutation_p.T141K|CPEB4_ENST00000520867.1_Missense_Mutation_p.T141K	p.T141K	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	1876	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	141					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.422C>A	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064732	0.55432	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.32376	0.0827	N	0.19112	0.55	0.80722	D	1	B;P;P;B	0.38020	0.415;0.551;0.615;0.415	B;B;B;B	0.33454	0.079;0.164;0.164;0.079	T	0.12344	-1.0551	10	0.52906	T	0.07	-8.1042	20.422	0.99049	0.0:1.0:0.0:0.0	.	141;141;141;141	B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.;.;.;CPEB4_HUMAN	K	141	ENSP00000265085:T141K;ENSP00000429092:T141K;ENSP00000334533:T141K;ENSP00000429048:T141K	ENSP00000265085:T141K	T	+	2	0	CPEB4	173249764	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.456000	0.80751	2.832000	0.97577	0.655000	0.94253	ACA		0.453	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		6	77	1	0	4.096e-09	1	4.42811e-09	6	77					A	173317158	C	A	173317158	3	1	482	1	0	0	0	0	1	0	0	0	3803	478	17	5	424	5	CPEB4	5	173317158	Missense_Mutation	SNP	C	TCGA-ZG-A9L2-01A-31D-A41K-08	32593484	173317158	7598102	12	32250											
DPPA5	340168	broad.mit.edu	37	chr6	74063897	74063897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctggatctttcaggtcttCgggaactttcacccacggcg	6	12	10	13	3	5	0	2	0	3	0	6	2	5	2	1	4	1	0	1	4	1	3			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr6:74063897C>T	ENST00000370370.3	-	1	121	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	18					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						TTCAGGTCTTCGGGAACTTTC	0.587																																						ENST00000370370.3																			0				NS(1)|endometrium(1)|lung(5)	7						c.(52-54)Gaa>Aaa		developmental pluripotency associated 5							75	68	70					6																	74063897		2203	4300	6503	SO:0001583	missense	340168				multicellular organismal development	cytoplasm	RNA binding	g.chr6:74063897C>T		CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.52G>A	6.37:g.74063897C>T	ENSP00000359396:p.Glu18Lys						p.E18K	NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN			1	121	-			18					B2RPQ7	Missense_Mutation	SNP	ENST00000370370.3	37	c.52G>A	CCDS34483.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959065	0.34565	.	.	ENSG00000203909	ENST00000370370	T	0.11277	2.79	3.7	3.7	0.42460	.	0.850028	0.10232	N	0.699519	T	0.01627	0.0052	N	0.11201	0.11	0.09310	N	1	P	0.39624	0.681	B	0.25291	0.059	T	0.34950	-0.9808	10	0.26408	T	0.33	.	11.3117	0.49368	0.0:1.0:0.0:0.0	.	18	A6NC42	DPPA5_HUMAN	K	18	ENSP00000359396:E18K	ENSP00000359396:E18K	E	-	1	0	DPPA5	74120618	0.011000	0.17503	0.006000	0.13384	0.079000	0.17450	0.365000	0.20348	2.392000	0.81423	0.485000	0.47835	GAA		0.587	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041203.3	NM_001025290		14	50	0	0	0	1	0	14	50					T	74063897	C	T	74063897	3	4	482	1	0	0	0	0	1	0	0	0	4737	893	31	2	310	2	DPPA5	6	74063897	Missense_Mutation	SNP	C	TCGA-ZG-A9L2-01A-31D-A41K-08		74063897	97051170	13	32251											
EEF1A1	1915	broad.mit.edu	37	chr6	74228229	74228244	+	Frame_Shift_Del	DEL	CGACAGATTTTACTTC	CGACAGATTTTACTTC	-																															caaagcttcatggtgcatttCgacagattttacttccgttg																								rs200820708		TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr6:74228229_74228244delCGACAGATTTTACTTC	ENST00000316292.9	-	5	1853_1868	c.862_877delGAAGTAAAATCTGTCG	c.(862-879)gaagtaaaatctgtcgaafs	p.EVKSVE288fs	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Frame_Shift_Del_p.EVKSVE288fs|EEF1A1_ENST00000309268.6_Frame_Shift_Del_p.EVKSVE288fs	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	288					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)	p.V292V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TGGTGCATTTCGACAGATTTTACTTCCGTTGTAACG	0.468											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000316292.9																			1	Substitution - coding silent(1)	p.V292V(1)	kidney(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(862-879)aafs		eukaryotic translation elongation factor 1 alpha 1																																				SO:0001589	frameshift_variant	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228229_74228244delCGACAGATTTTACTTC	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.862_877delGAAGTAAAATCTGTCG	6.37:g.74228229_74228244delCGACAGATTTTACTTC	ENSP00000339063:p.Glu288fs		OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_ENST00000331523.2_Frame_Shift_Del_p.EVKSVE288fs|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Frame_Shift_Del_p.EVKSVE288fs	p.EVKSVE288fs	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			5	1853_1868	-			288					P04719|P04720|Q6IQ15	Frame_Shift_Del	DEL	ENST00000316292.9	37	c.862_877delGAAGTAAAATCTGTCG	CCDS4980.1																																																																																				0.468	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		7	33						7	33	---	---	---	---	-	74228244	CGACAGATTTTACTTC	-	74228229	7	5	482	1	0	1	0	1	0	0	0	0	4923	893	31	0	523	0	EEF1A1	6	74228229	Frame_Shift_Del	DEL	CGACAGATTTTACTTC	TCGA-ZG-A9L2-01A-31D-A41K-08	164332	74228229	96886838	14	32252											
SASH1	23328	broad.mit.edu	37	chr6	148865285	148865285	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgtcgacaatgcattgctActgacccaaagcaagagatt	13	9	9	10	1	0	2	0	1	0	1	1	4	0	2	1	0	4	4	1	0	4	3			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr6:148865285A>T	ENST00000367467.3	+	18	3154	c.2679A>T	c.(2677-2679)ctA>ctT	p.L893L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	893					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			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)		ATGCATTGCTACTGACCCAAA	0.552																																						ENST00000367467.3																			0				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						c.(2677-2679)ctA>ctT		SAM and SH3 domain containing 1							125	139	134					6																	148865285		2203	4300	6503	SO:0001819	synonymous_variant	23328						protein binding	g.chr6:148865285A>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2679A>T	6.37:g.148865285A>T							p.L893L	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3154	+		Ovarian(120;0.0169)	893					Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	c.2679A>T	CCDS5212.1																																																																																				0.552	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		32	119	0	0	0	1	0	32	119					T	148865285	A	T	148865285	2	4	482	1	0	0	0	0	0	0	0	1	13848	378	14	5		5	SASH1	6	148865285	Silent	SNP	A	TCGA-ZG-A9L2-01A-31D-A41K-08	74637056	148865285	22249782	15	32253											
ABCB1	5243	broad.mit.edu	37	chr7	87160785	87160785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagatttgctatattctggGtaattacagcaagcctggaa	13	12	9	7	0	1	1	0	0	1	1	1	2	1	2	1	2	4	3	1	2	7	6			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr7:87160785G>A	ENST00000265724.3	-	22	2927	c.2510C>T	c.(2509-2511)aCc>aTc	p.T837I	ABCB1_ENST00000543898.1_Missense_Mutation_p.T773I|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	837	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			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)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TATATTCTGGGTAATTACAGC	0.328																																						ENST00000265724.3																			0				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						c.(2509-2511)aCc>aTc		ATP-binding cassette, sub-family B (MDR/TAP), member 1	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)						86	85	85					7																	87160785		2203	4300	6503	SO:0001583	missense	5243				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	g.chr7:87160785G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2510C>T	7.37:g.87160785G>A	ENSP00000265724:p.Thr837Ile					ABCB1_ENST00000543898.1_Missense_Mutation_p.T773I|ABCB1_ENST00000488737.2_5'UTR	p.T837I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			22	2927	-	Esophageal squamous(14;0.00164)		837			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2510C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571943	0.28092	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.88509	-2.39;-2.39	5.43	4.54	0.55810	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.483231	0.23696	N	0.045468	T	0.80929	0.4718	N	0.10664	0.02	0.31589	N	0.654133	B;B	0.30361	0.004;0.277	B;B	0.39339	0.037;0.297	T	0.76950	-0.2769	10	0.15499	T	0.54	-2.3206	14.9242	0.70862	0.0704:0.0:0.9296:0.0	.	773;837	B5AK60;P08183	.;MDR1_HUMAN	I	618;837;773	ENSP00000265724:T837I;ENSP00000444095:T773I	ENSP00000265724:T837I	T	-	2	0	ABCB1	86998721	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.936000	0.75892	1.397000	0.46682	0.491000	0.48974	ACC		0.328	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		9	33	0	0	0	1	0	9	33					A	87160785	G	A	87160785	3	1	482	1	0	0	0	0	1	0	0	0	40	1261	44	3	1364	3	ABCB1	7	87160785	Missense_Mutation	SNP	G	TCGA-ZG-A9L2-01A-31D-A41K-08		87160785	71977878	16	32254											
ASB4	51666	broad.mit.edu	37	chr7	95167003	95167003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acagatgccatagagcaattCctttgctttccctcccattg	9	13	6	13	0	0	2	0	0	0	2	3	2	3	2	4	0	3	2	4	0	2	5	rs267601648		TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr7:95167003C>T	ENST00000325885.5	+	5	1284	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	405	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.P405S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TAGAGCAATTCCTTTGCTTTC	0.413																																						ENST00000325885.5																			1	Substitution - Missense(1)	p.P405S(1)	lung(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(1213-1215)Cct>Tct		ankyrin repeat and SOCS box containing 4							185	170	175					7																	95167003		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95167003C>T	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"Ankyrin repeat domain containing"	16009	protein-coding gene	gene with protein product		605761	"ankyrin repeat and SOCS box-containing 4"				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.1213C>T	7.37:g.95167003C>T	ENSP00000321388:p.Pro405Ser						p.P405S	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		5	1284	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		405			SOCS box.		A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.1213C>T	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361286	0.41801	.	.	ENSG00000005981	ENST00000325885	T	0.42131	0.98	4.96	4.96	0.65561	SOCS protein, C-terminal (3);	0.190371	0.45867	D	0.000331	T	0.50752	0.1634	N	0.21097	0.63	0.80722	D	1	D	0.65815	0.995	D	0.64506	0.926	T	0.54944	-0.8217	10	0.56958	D	0.05	-43.4295	18.6112	0.91285	0.0:1.0:0.0:0.0	.	405	Q9Y574	ASB4_HUMAN	S	405	ENSP00000321388:P405S	ENSP00000321388:P405S	P	+	1	0	ASB4	95004939	0.997000	0.39634	1.000000	0.80357	0.381000	0.30169	3.812000	0.55628	2.471000	0.83476	0.591000	0.81541	CCT		0.413	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		10	73	0	0	0	1	0	10	73					T	95167003	C	T	95167003	3	4	482	1	0	0	0	0	1	0	0	0	1025	855	30	3	1303	3	ASB4	7	95167003	Missense_Mutation	SNP	C	TCGA-ZG-A9L2-01A-31D-A41K-08	8006218	95167003	63971660	17	32255											
ABCB8	11194	broad.mit.edu	37	chr7	150738258	150738258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtgatgctggatgggcGggacctgcgcacccttgacc	5	8	16	12	3	0	2	0	2	0	0	0	4	0	4	3	4	2	2	3	4	0	1	rs201851187		TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr7:150738258G>A	ENST00000297504.6	+	14	1673	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q	ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Missense_Mutation_p.R519Q|ABCB8_ENST00000358849.4_Missense_Mutation_p.R519Q|ABCB8_ENST00000542328.1_Missense_Mutation_p.R431Q			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	536	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CTGGATGGGCGGGACCTGCGC	0.677																																						ENST00000358849.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1555-1557)cGg>cAg		ATP-binding cassette, sub-family B (MDR/TAP), member 8							60	57	58					7																	150738258		2203	4300	6503	SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150738258G>A	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"ATP binding cassette transporters / subfamily B"	49	protein-coding gene	gene with protein product	"mitochondrial ABC protein"	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1607G>A	7.37:g.150738258G>A	ENSP00000297504:p.Arg536Gln					ABCB8_ENST00000297504.6_Missense_Mutation_p.R536Q|ABCB8_ENST00000542328.1_Missense_Mutation_p.R431Q|ABCB8_ENST00000498578.1_Missense_Mutation_p.R519Q|ABCB8_ENST00000356058.4_3'UTR	p.R519Q	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	13	1649	+			536			ABC transporter.		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.1556G>A		.	.	.	.	.	.	.	.	.	.	G	10.98	1.504496	0.26949	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27	4.45	-4.6	0.03390	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.876821	0.09826	N	0.750788	T	0.79851	0.4517	N	0.03294	-0.36	0.20307	N	0.999913	B;B;B;B	0.16166	0.016;0.002;0.002;0.001	B;B;B;B	0.13407	0.009;0.006;0.006;0.003	T	0.67169	-0.5738	10	0.29301	T	0.29	-24.7196	7.5956	0.28046	0.6382:0.0:0.2488:0.113	.	431;519;536;519	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.;.;ABCB8_HUMAN;.	Q	519;502;536;431;519	ENSP00000351717:R519Q;ENSP00000297504:R536Q;ENSP00000438776:R431Q;ENSP00000418271:R519Q	ENSP00000297504:R536Q	R	+	2	0	ABCB8	150369191	0.000000	0.05858	0.099000	0.21106	0.805000	0.45488	0.396000	0.20867	-0.861000	0.04094	-0.672000	0.03802	CGG		0.677	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		3	38	0	0	0	1	0	3	38					A	150738258	G	A	150738258	3	1	482	1	0	0	0	0	1	0	0	0	47	1116	39	2	1606	2	ABCB8	7	150738258	Missense_Mutation	SNP	G	TCGA-ZG-A9L2-01A-31D-A41K-08	55571255	150738258	8400405	18	32256											
ZNF34	80778	broad.mit.edu	37	chr8	145998934	145998934	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctctcctgtgtggattCtctggtgctggatgaggtgt	3	16	14	8	0	2	1	0	1	2	0	5	3	3	3	1	4	1	2	1	4	0	2			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr8:145998934C>A	ENST00000343459.4	-	6	1465	c.1400G>T	c.(1399-1401)aGa>aTa	p.R467I	ZNF34_ENST00000429371.2_Missense_Mutation_p.R446I			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	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)		TGTGTGGATTCTCTGGTGCTG	0.537																																						ENST00000429371.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						c.(1336-1338)aGa>aTa		zinc finger protein 34							88	88	88					8																	145998934		2203	4300	6503	SO:0001583	missense	80778				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145998934C>A	BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"Zinc fingers, C2H2-type", "-"	13098	protein-coding gene	gene with protein product		194526	"zinc finger protein 34 (KOX 32)"			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.1400G>T	8.37:g.145998934C>A	ENSP00000341528:p.Arg467Ile					ZNF34_ENST00000343459.4_Missense_Mutation_p.R467I	p.R446I	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	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)	6	1490	-	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)	467					D3DWN1|Q9BSZ0	Missense_Mutation	SNP	ENST00000343459.4	37	c.1337G>T	CCDS47945.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522834	0.44866	.	.	ENSG00000196378	ENST00000449516;ENST00000527190;ENST00000343459;ENST00000429371	T;T	0.24908	1.83;1.83	3.54	2.63	0.31362	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35677	N	0.003047	T	0.40372	0.1114	M	0.73753	2.245	0.44024	D	0.996748	D;D	0.60160	0.987;0.987	P;P	0.58820	0.795;0.846	T	0.24764	-1.0151	10	0.59425	D	0.04	.	6.5082	0.22206	0.0:0.706:0.1889:0.1051	.	426;467	E7EN25;Q8IZ26	.;ZNF34_HUMAN	I	426;396;467;446	ENSP00000341528:R467I;ENSP00000396894:R446I	ENSP00000341528:R467I	R	-	2	0	ZNF34	145969738	0.000000	0.05858	0.372000	0.25991	0.396000	0.30629	0.056000	0.14256	1.003000	0.39130	0.563000	0.77884	AGA		0.537	ZNF34-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382936.1	NM_030580		4	44	1	0	1	1	1	4	44					A	145998934	C	A	145998934	3	1	482	1	0	0	0	0	1	0	0	0	17853	913	32	5	286	5	ZNF34	8	145998934	Missense_Mutation	SNP	C	TCGA-ZG-A9L2-01A-31D-A41K-08		145998934	365088	19	32257											
PTEN	5728	broad.mit.edu	37	chr10	89653814	89653814	+	Frame_Shift_Del	DEL	C	C	-																															acattattgctatgggatttCctgcagaaagacttgaaggc																								rs587780004		TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr10:89653814delC	ENST00000371953.3	+	2	1469	c.112delC	c.(112-114)cctfs	p.P38fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	38	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.P38S(5)|p.Y27fs*1(2)		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)		TATGGGATTTCCTGCAGAAAG	0.284		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)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		52	Whole gene deletion(37)|Unknown(8)|Substitution - Missense(5)|Deletion - Frameshift(2)	p.0?(37)|p.?(8)|p.P38S(5)|p.Y27fs*1(2)	prostate(14)|skin(12)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|NS(2)|soft_tissue(1)|urinary_tract(1)|kidney(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						c.(112-114)ctfs		phosphatase and tensin homolog							112	112	112					10																	89653814		2203	4296	6499	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	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	g.chr10:89653814delC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.112delC	10.37:g.89653814delC	ENSP00000361021:p.Pro38fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.P38fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	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)	2	1469	+		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)	38			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.112delC	CCDS31238.1																																																																																				0.284	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		15	33						15	33	---	---	---	---	-	89653814	C	-	89653814	7	5	482	1	0	1	0	1	0	0	0	0	12738	855	30	0	118	0	PTEN	10	89653814	Frame_Shift_Del	DEL	C	TCGA-ZG-A9L2-01A-31D-A41K-08		89653814	45880933	20	32258											
FAT3	120114	broad.mit.edu	37	chr11	92085830	92085830	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggtgactgcaacagaCgcagatattggttccaatgg	11	8	12	10	1	0	3	0	1	0	2	1	3	1	3	2	3	2	3	2	3	3	3	rs536537428	byFrequency	TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr11:92085830C>T	ENST00000298047.6	+	1	569	c.552C>T	c.(550-552)gaC>gaT	p.D184D	FAT3_ENST00000409404.2_Silent_p.D184D|FAT3_ENST00000541502.1_Silent_p.D184D|FAT3_ENST00000525166.1_Silent_p.D34D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D184D(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)				CTGCAACAGACGCAGATATTG	0.423										TCGA Ovarian(4;0.039)			c|||	3	0.000599042	0	0	5008	,	,		18501	0.001		0	False		,,,				2504	0.002					ENST00000298047.6																			2	Substitution - coding silent(2)	p.D184D(2)	kidney(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						c.(550-552)gaC>gaT		FAT atypical cadherin 3							61	60	61					11																	92085830		1870	4113	5983	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085830C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.552C>T	11.37:g.92085830C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Silent_p.D34D|FAT3_ENST00000409404.2_Silent_p.D184D|FAT3_ENST00000541502.1_Silent_p.D184D	p.D184D			Q8TDW7	FAT3_HUMAN			1	569	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	184			Cadherin 2.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.552C>T																																																																																					0.423	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	35	0	0	0	1	0	6	35					T	92085830	C	T	92085830	2	4	482	1	0	0	0	0	0	0	0	1	5691	535	19	1		1	FAT3	11	92085830	Silent	SNP	C	TCGA-ZG-A9L2-01A-31D-A41K-08		92085830	42920686	21	32259											
NDUFA12	55967	broad.mit.edu	37	chr12	95396517	95396517	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaaatactgcactcaccaAaaaattgcttgttgtcttca	16	12	4	9	0	3	0	2	0	1	0	3	0	3	0	1	0	3	3	1	0	7	5			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr12:95396517A>G	ENST00000327772.2	-	2	256	c.167T>C	c.(166-168)tTt>tCt	p.F56S	NDUFA12_ENST00000547157.1_Intron|NDUFA12_ENST00000547986.1_Missense_Mutation_p.F56S	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	56					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|large_intestine(2)|lung(3)	6						GCACTCACCAAAAAATTGCTT	0.338																																						ENST00000327772.2																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(166-168)tTt>tCt		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	NADH(DB00157)						147	136	140					12																	95396517		2202	4300	6502	SO:0001583	missense	55967				respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr12:95396517A>G	BC005936	CCDS9050.1, CCDS58263.1	12q22	2011-07-04			ENSG00000184752	ENSG00000184752		"Mitochondrial respiratory chain complex / Complex I"	23987	protein-coding gene	gene with protein product	"complex I B17.2 subunit"	614530				10830904, 9827566	Standard	NM_018838		Approved	DAP13, B17.2	uc001tdl.4	Q9UI09		ENST00000327772.2:c.167T>C	12.37:g.95396517A>G	ENSP00000330737:p.Phe56Ser					NDUFA12_ENST00000547157.1_Intron|NDUFA12_ENST00000547986.1_Missense_Mutation_p.F56S	p.F56S	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN			2	256	-			56					F8VQS7|Q53XX0|Q9BRV6	Missense_Mutation	SNP	ENST00000327772.2	37	c.167T>C	CCDS9050.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.656119	0.88056	.	.	ENSG00000184752	ENST00000327772;ENST00000547986	T	0.39787	1.06	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	L	0.35723	1.085	0.80722	D	1	P	0.37548	0.599	P	0.45167	0.472	T	0.19353	-1.0308	10	0.27082	T	0.32	-21.1789	14.5089	0.67772	1.0:0.0:0.0:0.0	.	56	Q9UI09	NDUAC_HUMAN	S	56	ENSP00000330737:F56S	ENSP00000330737:F56S	F	-	2	0	NDUFA12	93920648	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.781000	0.85668	2.078000	0.62432	0.459000	0.35465	TTT		0.338	NDUFA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407245.2	NM_018838		11	36	0	0	0	1	0	11	36					G	95396517	A	G	95396517	3	3	482	1	0	0	0	0	1	0	0	0	10262	14	1	4	282	4	NDUFA12	12	95396517	Missense_Mutation	SNP	A	TCGA-ZG-A9L2-01A-31D-A41K-08		95396517	38455378	22	32260											
KARS	3735	broad.mit.edu	37	chr16	75668148	75668148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ataagtgatgaaaggcttggCcacggctccccctgggatga	10	8	13	10	1	0	3	0	3	0	0	1	4	1	4	3	4	0	2	3	4	2	2			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr16:75668148C>T	ENST00000302445.3	-	7	877	c.838G>A	c.(838-840)Gcc>Acc	p.A280T	KARS_ENST00000568378.1_Intron|KARS_ENST00000319410.5_Missense_Mutation_p.A308T	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	280					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	AAAGGCTTGGCCACGGCTCCC	0.448																																						ENST00000319410.5																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18						c.(922-924)Gcc>Acc		lysyl-tRNA synthetase	L-Lysine(DB00123)						100	97	98					16																	75668148		2198	4300	6498	SO:0001583	missense	3735				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	g.chr16:75668148C>T	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"Aminoacyl tRNA synthetases / Class II"	6215	protein-coding gene	gene with protein product	"lysine tRNA ligase"	601421	"deafness, autosomal recessive 89"	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.838G>A	16.37:g.75668148C>T	ENSP00000303043:p.Ala280Thr					KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.A280T	p.A308T	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN			8	1043	-			280					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.922G>A	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	C	36	5.901528	0.97087	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	D;D	0.83755	-1.76;-1.76	5.7	5.7	0.88788	Lysyl-tRNA synthetase, class II, C-terminal (1);Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.96084	0.8724	H	0.99937	4.99	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.989;0.998;0.997	D	0.98164	1.0448	10	0.87932	D	0	-11.6833	18.4169	0.90574	0.0:1.0:0.0:0.0	.	150;308;280	E9PDU1;Q15046-2;Q15046	.;.;SYK_HUMAN	T	308;280	ENSP00000325448:A308T;ENSP00000303043:A280T	ENSP00000303043:A280T	A	-	1	0	KARS	74225649	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.695000	0.91970	0.561000	0.74099	GCC		0.448	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		14	49	0	0	0	1	0	14	49					T	75668148	C	T	75668148	3	4	482	1	0	0	0	0	1	0	0	0	7980	739	26	3	987	3	KARS	16	75668148	Missense_Mutation	SNP	C	TCGA-ZG-A9L2-01A-31D-A41K-08		75668148	14686605	23	32261											
HSF5	124535	broad.mit.edu	37	chr17	56557586	56557586	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtaaggagacaaactaTctcgacgaaatgaccggtga	16	6	12	7	3	1	3	0	2	1	1	2	7	1	4	1	3	1	1	1	3	4	2			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr17:56557586T>G	ENST00000323777.3	-	2	702	c.593A>C	c.(592-594)gAt>gCt	p.D198A		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	198					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGACAAACTATCTCGACGAAA	0.433																																						ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(592-594)gAt>gCt		heat shock transcription factor family member 5							85	78	80					17																	56557586		2203	4300	6503	SO:0001583	missense	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56557586T>G	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.593A>C	17.37:g.56557586T>G	ENSP00000313243:p.Asp198Ala						p.D198A	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			2	702	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		198					Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	c.593A>C	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.931371	0.73442	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.50813	0.73	5.62	5.62	0.85841	.	0.092424	0.46145	D	0.000302	T	0.35480	0.0933	N	0.24115	0.695	0.44918	D	0.997931	P	0.44690	0.841	B	0.41374	0.355	T	0.14172	-1.0482	10	0.33940	T	0.23	.	13.1957	0.59736	0.0:0.0:0.0:1.0	.	198	Q4G112	HSF5_HUMAN	A	98;198	ENSP00000313243:D198A	ENSP00000313243:D198A	D	-	2	0	HSF5	53912585	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.439000	0.52878	2.138000	0.66242	0.533000	0.62120	GAT		0.433	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		10	20	0	0	0	1	0	10	20					G	56557586	T	G	56557586	3	3	482	1	0	0	0	0	1	0	0	0	7399	1435	50	5	1217	5	HSF5	17	56557586	Missense_Mutation	SNP	T	TCGA-ZG-A9L2-01A-31D-A41K-08		56557586	24637624	24	32262											
PGS1	9489	broad.mit.edu	37	chr17	76395604	76395604	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtacctcttcgacaacagCgtcatcttgagcgggtgagt	8	11	12	10	3	3	2	1	2	2	0	4	3	3	2	1	1	4	1	1	1	2	3			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr17:76395604C>A	ENST00000262764.6	+	5	713	c.687C>A	c.(685-687)agC>agA	p.S229R	PGS1_ENST00000588281.1_3'UTR|SNORA30_ENST00000363193.1_RNA|PGS1_ENST00000329897.7_Missense_Mutation_p.S94R	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	229	PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TCGACAACAGCGTCATCTTGA	0.597																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000262764.6																			0				cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(685-687)agC>agA		phosphatidylglycerophosphate synthase 1							94	95	94					17																	76395604		2134	4242	6376	SO:0001583	missense	9489				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity	g.chr17:76395604C>A		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.687C>A	17.37:g.76395604C>A	ENSP00000262764:p.Ser229Arg					PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Missense_Mutation_p.S94R	p.S229R	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)		5	713	+			229			PLD phosphodiesterase 1.		B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.687C>A	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669144	0.47677	.	.	ENSG00000087157	ENST00000262764;ENST00000329897;ENST00000335081	T;T	0.19669	2.13;2.13	5.7	-11.4	0.00090	Phospholipase D/Transphosphatidylase (1);	0.285139	0.42821	D	0.000659	T	0.17831	0.0428	L	0.33485	1.01	0.09310	N	0.999992	P	0.43885	0.82	P	0.48227	0.571	T	0.50440	-0.8828	10	0.24483	T	0.36	-25.0196	21.1184	0.99946	0.0:0.3093:0.0:0.6907	.	229	Q32NB8	PGPS1_HUMAN	R	229;94;94	ENSP00000262764:S229R;ENSP00000330039:S94R	ENSP00000262764:S229R	S	+	3	2	PGS1	73907199	0.000000	0.05858	0.000000	0.03702	0.943000	0.58893	-1.140000	0.03210	-2.449000	0.00544	-0.126000	0.14955	AGC		0.597	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		4	45	1	0	0.000602214	1	0.000617656	4	45					A	76395604	C	A	76395604	3	1	482	1	0	0	0	0	1	0	0	0	11808	767	27	5	705	5	PGS1	17	76395604	Missense_Mutation	SNP	C	TCGA-ZG-A9L2-01A-31D-A41K-08	19838018	76395604	4799606	25	32263											
SMARCA4	6597	broad.mit.edu	37	chr19	11144059	11144059	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacagcgtggaggagaagAtcctagctgcagccaagtac	13	6	12	10	1	1	2	1	0	0	2	2	4	2	3	2	2	6	3	2	2	5	2			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr19:11144059A>C	ENST00000429416.3	+	27	3921	c.3640A>C	c.(3640-3642)Atc>Ctc	p.I1214L	SMARCA4_ENST00000541122.2_Missense_Mutation_p.I1214L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.I1214L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.I1214L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.I1214L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.I1214L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.I1214L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.I1214L|SMARCA4_ENST00000358026.2_Missense_Mutation_p.I1214L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1214	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGAGGAGAAGATCCTAGCTGC	0.637			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3640-3642)Atc>Ctc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							115	112	113					19																	11144059		2203	4300	6503	SO:0001583	missense	6597				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	g.chr19:11144059A>C	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3640A>C	19.37:g.11144059A>C	ENSP00000395654:p.Ile1214Leu					SMARCA4_ENST00000444061.3_Missense_Mutation_p.I1214L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.I1214L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.I1214L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.I1214L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.I1214L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.I1214L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.I1214L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.I1214L	p.I1214L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			26	3924	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1214			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3640A>C	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440717	0.83993	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.74	4.74	0.60224	Helicase, C-terminal (1);	0.061993	0.64402	N	0.000005	D	0.86414	0.5927	M	0.81239	2.535	0.53005	D	0.999961	P;P;P;B;D;D;B	0.67145	0.866;0.866;0.947;0.07;0.989;0.996;0.002	P;P;P;B;P;P;B	0.62014	0.688;0.688;0.78;0.156;0.896;0.897;0.021	D	0.88272	0.2930	10	0.66056	D	0.02	-22.1321	13.3948	0.60846	1.0:0.0:0.0:0.0	.	1214;1214;1214;1214;1214;434;1214	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	L	1214;1214;1278;1214;1214;1214;1214;1214	ENSP00000395654:I1214L;ENSP00000350720:I1214L;ENSP00000343896:I1214L;ENSP00000445036:I1214L;ENSP00000392837:I1214L;ENSP00000397783:I1214L;ENSP00000414727:I1214L	ENSP00000343896:I1214L	I	+	1	0	SMARCA4	11005059	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.821000	0.92009	2.012000	0.59069	0.456000	0.33151	ATC		0.637	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		18	53	0	0	0	1	0	18	53					C	11144059	A	C	11144059	3	2	482	1	0	0	0	0	1	0	0	0	14770	333	12	5	3738	5	SMARCA4	19	11144059	Missense_Mutation	SNP	A	TCGA-ZG-A9L2-01A-31D-A41K-08		11144059	47984924	26	32264											
ZNF878	729747	broad.mit.edu	37	chr19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacgaacagaactgggaaaActgaatgctttcccacactg	14	8	8	11	1	0	2	0	1	0	1	1	4	1	3	1	1	5	1	1	1	6	2			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189	199	196					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591838.1_RNA	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		5	202	0	0	0	1	0	5	202					C	12155673	A	C	12155673	3	2	482	1	0	0	0	0	1	0	0	0	18193	40	2	5	1056	5	ZNF878	19	12155673	Missense_Mutation	SNP	A	TCGA-ZG-A9L2-01A-31D-A41K-08	1011614	12155673	46973310	27	32265											
ZNF878	729747	broad.mit.edu	37	chr19	12157184	12157184	+	Splice_Site	DEL	T	T	-																															tcttttaagtgccagttaccTtaggtttctcctaggatttt																										TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr19:12157184delT	ENST00000547628.1	-	3	327	c.190delA	c.(190-192)aga>ga	p.R65fs	CTD-2006C1.10_ENST00000547473.1_Splice_Site_p.R64fs|ZNF878_ENST00000602107.1_Splice_Site_p.R112fs|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	65	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GCCAGTTACCTTAGGTTTCTC	0.348																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.e4+1		zinc finger protein 878							138	116	123					19																	12157184		1842	4086	5928	SO:0001630	splice_region_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12157184delT		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.191+1A>-	19.37:g.12157184delT						ZNF878_ENST00000547628.1_Splice_Site_p.R65_splice|CTD-2006C1.10_ENST00000547473.1_Splice_Site_p.R64_splice	p.R112_splice			C9JN71	ZN878_HUMAN			4	330	-			65						Splice_Site	DEL	ENST00000547628.1	37	c.332_splice	CCDS45984.2																																																																																				0.348	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404	Frame_Shift_Del	2	4						2	4	---	---	---	---	-	12157184	T	-	12157184	8	5	482	1	0	1	0	1	0	0	1	0	18193	1623	56	0	1413	0	ZNF878	19	12157184	Splice_Site	DEL	T	TCGA-ZG-A9L2-01A-31D-A41K-08	1511	12157184	46971799	28	32266											
IRGQ	126298	broad.mit.edu	37	chr19	44096566	44096568	+	In_Frame_Del	DEL	GCC	GCC	-																															agcccagccctgggagtggtGccgccgccgccgccagacta																										TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr19:44096566_44096568delGCC	ENST00000602269.1	-	2	1667_1669	c.1482_1484delGGC	c.(1480-1485)gcggca>gca	p.494_495AA>A	L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000422989.1_In_Frame_Del_p.494_495AA>A|IRGQ_ENST00000601520.1_Intron			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	494	Ala-rich.							p.A495delA(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TGGGAGTGGTGCCGCCGCCGCCG	0.729																																						ENST00000422989.1																			1	Deletion - In frame(1)	p.A495delA(1)	large_intestine(1)	endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(1480-1485)gca>gc		immunity-related GTPase family, Q				20,2370		4,12,1179						-8	0.1			4	37,5111		2,33,2539	no	coding	IRGQ	NM_001007561.2		6,45,3718	A1A1,A1R,RR		0.7187,0.8368,0.7562				57,7481				SO:0001651	inframe_deletion	126298						protein binding	g.chr19:44096566_44096568delGCC	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1482_1484delGGC	19.37:g.44096575_44096577delGCC	ENSP00000472250:p.Ala495del					L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000602269.1_In_Frame_Del_p.AA494del|IRGQ_ENST00000601520.1_Intron	p.AA494del	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			3	1637_1639	-		Prostate(69;0.0199)	494			Ala-rich.		B2RNP3	In_Frame_Del	DEL	ENST00000602269.1	37	c.1482_1484delGGC	CCDS33040.1																																																																																				0.729	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		2	4						2	4	---	---	---	---	-	44096568	GCC	-	44096566	7	5	482	1	0	1	0	1	0	0	0	0	7839	1319	46	0	391	0	IRGQ	19	44096566	In_Frame_Del	DEL	GCC	TCGA-ZG-A9L2-01A-31D-A41K-08	31939382	44096566	15032417	29	32267											
SERINC3	10955	broad.mit.edu	37	chr20	43141574	43141574	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaaccagcacatcacaaTctttatctgcatttatatca	15	12	2	12	0	4	0	2	0	2	0	4	0	4	0	2	0	4	2	2	0	6	5			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr20:43141574T>A	ENST00000342374.4	-	3	420	c.263A>T	c.(262-264)gAt>gTt	p.D88V	SERINC3_ENST00000255175.1_Missense_Mutation_p.D88V|SERINC3_ENST00000541235.1_Missense_Mutation_p.D33V|SERINC3_ENST00000468234.1_5'Flank	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	88					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CACATCACAATCTTTATCTGC	0.363																																						ENST00000342374.4																			0				endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18						c.(262-264)gAt>gTt		serine incorporator 3							151	146	148					20																	43141574		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43141574T>A	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"tumor differentially expressed 1"	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.263A>T	20.37:g.43141574T>A	ENSP00000340243:p.Asp88Val					SERINC3_ENST00000255175.1_Missense_Mutation_p.D88V|SERINC3_ENST00000541235.1_Missense_Mutation_p.D33V	p.D88V	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		3	420	-		Myeloproliferative disorder(115;0.0122)	88					B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.263A>T	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.646502	0.29246	.	.	ENSG00000132824	ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T	0.14893	2.47;2.47;2.47	4.87	-0.796	0.10912	.	0.703249	0.14602	N	0.309588	T	0.16938	0.0407	M	0.80847	2.515	0.51012	D	0.999909	B;B	0.30727	0.017;0.292	B;B	0.29267	0.026;0.1	T	0.10870	-1.0611	10	0.54805	T	0.06	.	1.9647	0.03393	0.1228:0.2769:0.126:0.4743	.	88;88	Q53GK8;Q13530	.;SERC3_HUMAN	V	88;88;55;33	ENSP00000255175:D88V;ENSP00000340243:D88V;ENSP00000440966:D33V	ENSP00000255175:D88V	D	-	2	0	SERINC3	42574988	1.000000	0.71417	0.004000	0.12327	0.415000	0.31203	2.111000	0.41883	0.034000	0.15491	0.460000	0.39030	GAT		0.363	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		4	53	0	0	0	1	0	4	53					A	43141574	T	A	43141574	3	1	482	1	0	0	0	0	1	0	0	0	14081	1435	50	5	1190	5	SERINC3	20	43141574	Missense_Mutation	SNP	T	TCGA-ZG-A9L2-01A-31D-A41K-08		43141574	19883946	30	32268											
OTC	5009	broad.mit.edu	37	chrX	38229085	38229086	+	Frame_Shift_Ins	INS	-	-	T																															agggaagtccttaggcatgaINStttttgagaaaagaagtact																										TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chrX:38229085_38229086insT	ENST00000039007.4	+	3	405_406	c.253_254insT	c.(253-255)attfs	p.I85fs	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	85					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CTTAGGCATGATTTTTGAGAAA	0.322																																						ENST00000039007.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(253-255)tttfs		ornithine carbamoyltransferase	L-Citrulline(DB00155)|L-Ornithine(DB00129)																																			SO:0001589	frameshift_variant	5009				arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	g.chrX:38229085_38229086insT	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.258dupT	X.37:g.38229090_38229090dupT	ENSP00000039007:p.Ile85fs					OTC_ENST00000488812.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	p.F85fs	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN			3	405_406	+			85					A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Frame_Shift_Ins	INS	ENST00000039007.4	37	c.253_254insT	CCDS14247.1																																																																																				0.322	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2			20	34						20	34	---	---	---	---	T	38229086	-	T	38229085	7	5	482	1	0	1	1	0	0	0	0	0	11301	333	12	0	263	0	OTC	23	38229085	Frame_Shift_Ins	INS	-	TCGA-ZG-A9L2-01A-31D-A41K-08		38229085	117041475	31	32269											
CYSLTR1	10800	broad.mit.edu	37	chrX	77528275	77528276	+	Frame_Shift_Ins	INS	-	-	TT																															tttctggcaaagaggccttcINStttctgggtacataagtcac																										TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chrX:77528275_77528276insTT	ENST00000373304.3	-	3	1260_1261	c.968_969insAA	c.(967-969)aagfs	p.K323fs		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	323					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AAGAGGCCTTCTTTCTGGGTAC	0.366																																						ENST00000373304.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(967-969)aaafs		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)																																			SO:0001589	frameshift_variant	0				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77528275_77528276insTT	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"GPCR / Class A : Leukotriene receptors"	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.967_968dupAA	X.37:g.77528276_77528277dupTT	ENSP00000362401:p.Lys323fs						p.K323fs	NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN			3	1260_1261	-			323					B2R954|D3DTE4|Q5JS94|Q8IV19	Frame_Shift_Ins	INS	ENST00000373304.3	37	c.968_969insAA	CCDS14439.1																																																																																				0.366	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			12	23						12	23	---	---	---	---	TT	77528276	-	TT	77528275	7	5	482	1	0	1	1	0	0	0	0	0	4201	912	32	0	48	0	CYSLTR1	23	77528275	Frame_Shift_Ins	INS	-	TCGA-ZG-A9L2-01A-31D-A41K-08	39299190	77528275	77742285	32	32270											
UTS2	10911	broad.mit.edu	37	chr1	7910967	7910967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctccggagttaagcgcGcgtcttcatgaggtgctaca	7	10	12	12	4	2	1	1	1	1	0	4	2	4	2	2	2	3	3	2	2	2	3	rs201000488		TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr1:7910967G>A	ENST00000361696.5	-	2	150	c.119C>T	c.(118-120)gCg>gTg	p.A40V	UTS2_ENST00000377516.2_Missense_Mutation_p.A40V|UTS2_ENST00000054668.5_Missense_Mutation_p.A55V	NM_006786.3	NP_006777.1	O95399	UTS2_HUMAN	urotensin 2	40					muscle contraction (GO:0006936)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell differentiation (GO:0045597)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of heart rate (GO:0010460)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to testosterone (GO:0033574)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			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)		AGTTAAGCGCGCGTCTTCATG	0.463																																						ENST00000377516.2																			0				kidney(1)|lung(4)|urinary_tract(1)	6						c.(118-120)gCg>gTg		urotensin 2							89	89	89					1																	7910967		2203	4300	6503	SO:0001583	missense	10911				muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity	g.chr1:7910967G>A	AF104118	CCDS90.1, CCDS91.1	1p36	2013-02-28			ENSG00000049247	ENSG00000049247		"Endogenous ligands"	12636	protein-coding gene	gene with protein product	"prepro U-II"	604097				9861051, 10499587	Standard	NM_021995		Approved	UII, U-II, UCN2, PRO1068	uc001aos.3	O95399	OTTHUMG00000001218	ENST00000361696.5:c.119C>T	1.37:g.7910967G>A	ENSP00000355163:p.Ala40Val					UTS2_ENST00000054668.5_Missense_Mutation_p.A55V|UTS2_ENST00000361696.5_Missense_Mutation_p.A40V	p.A40V			O95399	UTS2_HUMAN		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)	3	439	-	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)	40					Q5H8X7|Q6UXF6|Q9UKP7	Missense_Mutation	SNP	ENST00000361696.5	37	c.119C>T	CCDS91.1	.	.	.	.	.	.	.	.	.	.	G	9.444	1.088827	0.20390	.	.	ENSG00000049247	ENST00000377516;ENST00000400910;ENST00000361696;ENST00000054668	T;T;T	0.34072	1.38;1.43;1.39	5.16	3.26	0.37387	.	0.693436	0.14616	N	0.308730	T	0.16041	0.0386	N	0.04297	-0.235	0.09310	N	1	B;B;B	0.26902	0.095;0.033;0.163	B;B;B	0.20384	0.02;0.009;0.029	T	0.19160	-1.0314	10	0.27082	T	0.32	-0.8104	8.6393	0.33968	0.1831:0.0:0.8169:0.0	.	55;40;40	O95399-2;O95399;Q5H8X8	.;UTS2_HUMAN;.	V	40;40;40;55	ENSP00000366738:A40V;ENSP00000355163:A40V;ENSP00000054668:A55V	ENSP00000054668:A55V	A	-	2	0	UTS2	7833554	0.033000	0.19621	0.000000	0.03702	0.000000	0.00434	2.558000	0.45879	0.639000	0.30564	-0.143000	0.13931	GCG		0.463	UTS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003612.1	NM_006786		4	62	0	0	0	1	0	4	62					A	7910967	G	A	7910967	3	1	483	1	0	0	0	0	1	0	0	0	17101	1087	38	1	267	1	UTS2	1	7910967	Missense_Mutation	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08		7910967	241339654	1	32271											
C1orf55	163859	broad.mit.edu	37	chr1	226182980	226182980	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctacctccttttccaccGcaaagtctgggttccaaact	8	12	6	15	1	1	0	0	0	1	0	5	0	5	0	6	1	2	2	6	1	3	4			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr1:226182980G>A	ENST00000272091.7	-	2	243	c.225C>T	c.(223-225)tgC>tgT	p.C75C		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	75																	CTTTTCCACCGCAAAGTCTGG	0.403																																						ENST00000366817.1																			0											c.(70-72)gCg>gTg		SDE2 telomere maintenance homolog (S. pombe)							171	158	162					1																	226182980		1912	4138	6050	SO:0001819	synonymous_variant	163859							g.chr1:226182980G>A	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 55"	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.225C>T	1.37:g.226182980G>A						SDE2_ENST00000272091.7_Silent_p.C75C	p.A24V							2	234	-								A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	c.71C>T	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	G	4.850	0.158025	0.09236	.	.	ENSG00000143751	ENST00000366817	T	0.50001	0.76	6.01	-3.78	0.04333	.	.	.	.	.	T	0.44746	0.1308	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.51764	-0.8664	6	0.87932	D	0	8.1452	8.7088	0.34371	0.4262:0.0:0.4662:0.1076	.	.	.	.	V	24	ENSP00000355782:A24V	ENSP00000355782:A24V	A	-	2	0	C1orf55	224249603	0.001000	0.12720	0.004000	0.12327	0.073000	0.16967	-0.044000	0.12023	-1.012000	0.03387	-1.287000	0.01368	GCG		0.403	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		4	87	0	0	0	1	0	4	87					A	226182980	G	A	226182980	2	1	483	1	0	0	0	0	0	0	0	1	2047	1079	38	1		1	C1orf55	1	226182980	Silent	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08	218272013	226182980	23067641	2	32272											
MTR	4548	broad.mit.edu	37	chr1	236966820	236966820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatggggaccatgatccagCgggagaagctaaacgaagaa	15	4	15	7	2	0	3	0	1	0	2	1	7	1	5	2	4	3	1	2	4	5	1			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr1:236966820C>T	ENST00000366577.5	+	2	521	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	MTR_ENST00000418145.2_Intron|MTR_ENST00000535889.1_Missense_Mutation_p.R43W	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	43	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CATGATCCAGCGGGAGAAGCT	0.468																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(127-129)Cgg>Tgg		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						111	112	111					1																	236966820		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:236966820C>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.127C>T	1.37:g.236966820C>T	ENSP00000355536:p.Arg43Trp					MTR_ENST00000535889.1_Missense_Mutation_p.R43W|MTR_ENST00000418145.2_Intron	p.R43W	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	2	521	+	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)	43			Hcy-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.127C>T	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466598	0.84425	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889	T;T	0.13538	2.58;2.58	4.95	2.97	0.34412	Homocysteine S-methyltransferase (4);	0.327633	0.29266	N	0.012656	T	0.37019	0.0988	M	0.91038	3.17	0.39513	D	0.968399	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.55011	0.766;0.766;0.766	T	0.57069	-0.7874	10	0.87932	D	0	-0.8406	13.2359	0.59969	0.2869:0.7131:0.0:0.0	.	43;43;43	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	W	43	ENSP00000355536:R43W;ENSP00000441845:R43W	ENSP00000355536:R43W	R	+	1	2	MTR	235033443	0.998000	0.40836	0.706000	0.30403	0.800000	0.45204	3.081000	0.50120	1.312000	0.45043	0.644000	0.83932	CGG		0.468	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		3	55	0	0	0	1	0	3	55					T	236966820	C	T	236966820	3	4	483	1	0	0	0	0	1	0	0	0	9958	759	27	1	133	1	MTR	1	236966820	Missense_Mutation	SNP	C	TCGA-ZG-A9L4-01A-11D-A41K-08	10783840	236966820	12283801	3	32273											
WDR64	128025	broad.mit.edu	37	chr1	241904837	241904837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatctagtgttatggacatGtatcctttgactaggatgat	10	15	11	5	0	1	2	0	2	1	0	2	5	2	5	1	3	0	2	1	3	4	5			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr1:241904837G>A	ENST00000366552.2	+	11	1518	c.1311G>A	c.(1309-1311)atG>atA	p.M437I	WDR64_ENST00000437684.2_Missense_Mutation_p.M437I	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	437										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TTATGGACATGTATCCTTTGA	0.353																																						ENST00000366552.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1309-1311)atG>atA		WD repeat domain 64							131	120	124					1																	241904837		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241904837G>A	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1311G>A	1.37:g.241904837G>A	ENSP00000355510:p.Met437Ile					WDR64_ENST00000437684.2_Missense_Mutation_p.M437I	p.M437I	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		11	1518	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	437					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.1311G>A		.	.	.	.	.	.	.	.	.	.	G	11.46	1.644576	0.29246	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.36520	1.52;1.25;1.37	5.49	5.49	0.81192	.	0.147918	0.48767	D	0.000172	T	0.17066	0.0410	N	0.08118	0	0.32320	N	0.562519	B	0.21225	0.053	B	0.20184	0.028	T	0.10753	-1.0616	10	0.02654	T	1	-24.9066	12.6117	0.56554	0.0:0.1666:0.8334:0.0	.	157	D1MPS4	.	I	437;437;208	ENSP00000355510:M437I;ENSP00000402446:M437I;ENSP00000406656:M208I	ENSP00000355510:M437I	M	+	3	0	WDR64	239971460	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.902000	0.48703	2.584000	0.87258	0.655000	0.94253	ATG		0.353	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		6	44	0	0	0	1	0	6	44					A	241904837	G	A	241904837	3	1	483	1	0	0	0	0	1	0	0	0	17312	1377	48	3	1353	3	WDR64	1	241904837	Missense_Mutation	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08	4938017	241904837	7345784	4	32274											
THSD7B	80731	broad.mit.edu	37	chr2	137814077	137814077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgttgacgggtggacaaGtcacctgtctaactgtggtg	8	12	13	8	1	3	1	2	1	1	0	3	2	3	2	1	3	1	1	1	3	2	2			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr2:137814077G>T	ENST00000409968.1	+	3	405	c.227G>T	c.(226-228)aGt>aTt	p.S76I	THSD7B_ENST00000413152.2_Missense_Mutation_p.S45I|THSD7B_ENST00000543459.1_5'Flank|THSD7B_ENST00000272643.3_Missense_Mutation_p.S76I			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	76	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGGTGGACAAGTCACCTGTCT	0.532																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(226-228)aGt>aTt		thrombospondin, type I, domain containing 7B							83	90	87					2																	137814077		2025	4198	6223	SO:0001583	missense	80731							g.chr2:137814077G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.227G>T	2.37:g.137814077G>T	ENSP00000387145:p.Ser76Ile					THSD7B_ENST00000413152.2_Missense_Mutation_p.S45I|THSD7B_ENST00000272643.3_Missense_Mutation_p.S76I	p.S76I						BRCA - Breast invasive adenocarcinoma(221;0.19)	3	405	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.227G>T		.	.	.	.	.	.	.	.	.	.	G	16.85	3.235349	0.58886	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60171	0.21;0.21;0.21	5.89	5.89	0.94794	.	0.170423	0.64402	D	0.000008	T	0.56277	0.1974	L	0.31476	0.935	0.80722	D	1	P	0.40619	0.724	P	0.49528	0.614	T	0.50717	-0.8795	10	0.30854	T	0.27	.	14.4236	0.67200	0.0:0.2565:0.7435:0.0	.	45	C9JKN6	.	I	76;76;45	ENSP00000387145:S76I;ENSP00000272643:S76I;ENSP00000413841:S45I	ENSP00000272643:S76I	S	+	2	0	THSD7B	137530547	1.000000	0.71417	0.734000	0.30879	0.989000	0.77384	4.721000	0.61951	2.788000	0.95919	0.585000	0.79938	AGT		0.532	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		11	25	1	0	0.000673444	1	0.000699854	11	25					T	137814077	G	T	137814077	3	4	483	1	0	0	0	0	1	0	0	0	15877	1029	36	5	140	5	THSD7B	2	137814077	Missense_Mutation	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08		137814077	105385296	5	32275											
MASP1	5648	broad.mit.edu	37	chr3	186978566	186978566	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgtgtggaggatgtagccGaagcggcaggagcagtagta	10	8	17	6	2	1	0	0	0	1	0	1	4	1	3	1	4	3	5	1	4	4	3	rs553549384	byFrequency	TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr3:186978566G>A	ENST00000337774.5	-	4	899	c.510C>T	c.(508-510)ttC>ttT	p.F170F	MASP1_ENST00000296280.6_Silent_p.F170F|MASP1_ENST00000169293.6_Silent_p.F170F|MASP1_ENST00000392470.2_Silent_p.F144F|MASP1_ENST00000392472.2_Silent_p.F57F|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	170	EGF-like; calcium-binding.|Homodimerization. {ECO:0000250}.|Interaction with FCN2.|Interaction with MBL2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GGATGTAGCCGAAGCGGCAGG	0.527													G|||	5	0.000998403	0	0	5008	,	,		18092	0		0	False		,,,				2504	0.0051					ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(508-510)ttC>ttT		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							148	109	123					3																	186978566		2203	4300	6503	SO:0001819	synonymous_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186978566G>A	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.510C>T	3.37:g.186978566G>A						MASP1_ENST00000392472.2_Silent_p.F57F|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Silent_p.F144F|MASP1_ENST00000296280.6_Silent_p.F170F|MASP1_ENST00000169293.6_Silent_p.F170F	p.F170F	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	4	899	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		170			EGF-like; calcium-binding.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	c.510C>T	CCDS33907.1																																																																																				0.527	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		3	48	0	0	0	1	0	3	48					A	186978566	G	A	186978566	2	1	483	1	0	0	0	0	0	0	0	1	9322	1049	37	2		2	MASP1	3	186978566	Silent	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08		186978566	11043864	6	32276											
NDST3	9348	broad.mit.edu	37	chr4	118975475	118975475	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattatttatgagaatatttTaaagtatataaatatggatt	17	18	5	1	0	0	1	0	1	0	1	0	3	0	2	0	1	0	1	0	1	11	11			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr4:118975475T>A	ENST00000296499.5	+	2	813	c.410T>A	c.(409-411)tTa>tAa	p.L137*	NDST3_ENST00000433996.2_Nonsense_Mutation_p.L137*	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	137	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GAGAATATTTTAAAGTATATA	0.353																																						ENST00000296499.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(409-411)tTa>tAa		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							22	25	24					4																	118975475		2193	4287	6480	SO:0001587	stop_gained	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:118975475T>A	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.410T>A	4.37:g.118975475T>A	ENSP00000296499:p.Leu137*					NDST3_ENST00000433996.2_Nonsense_Mutation_p.L137*	p.L137*	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			2	813	+			137			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Nonsense_Mutation	SNP	ENST00000296499.5	37	c.410T>A	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	T	34	5.345398	0.95807	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	.	.	.	5.54	2.79	0.32731	.	0.249082	0.34802	N	0.003679	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9213	0.41466	0.0:0.2142:0.0:0.7858	.	.	.	.	X	137	.	ENSP00000296499:L137X	L	+	2	0	NDST3	119194923	0.898000	0.30612	1.000000	0.80357	0.986000	0.74619	2.869000	0.48444	0.923000	0.37045	-0.256000	0.11100	TTA		0.353	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		3	39	0	0	0	1	0	3	39					A	118975475	T	A	118975475	4	1	483	1	0	0	0	0	0	1	0	0	10257	1764	61	5	412	5	NDST3	4	118975475	Nonsense_Mutation	SNP	T	TCGA-ZG-A9L4-01A-11D-A41K-08		118975475	72178801	7	32277											
SNX2	6643	broad.mit.edu	37	chr5	122161782	122161782	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagtgctggcagaaatGggaagatgctcaaattactt	15	10	11	5	0	1	3	1	1	0	2	1	4	1	4	0	2	3	3	0	2	6	2			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr5:122161782G>A	ENST00000379516.2	+	12	1358	c.1250G>A	c.(1249-1251)tGg>tAg	p.W417*	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Nonsense_Mutation_p.W300*	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	417					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TGGCAGAAATGGGAAGATGCT	0.328																																						ENST00000379516.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19						c.(1249-1251)tGg>tAg		sorting nexin 2							94	90	91					5																	122161782		2203	4300	6503	SO:0001587	stop_gained	6643				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr5:122161782G>A	AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"Sorting nexins"	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.1250G>A	5.37:g.122161782G>A	ENSP00000368831:p.Trp417*					SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Nonsense_Mutation_p.W300*	p.W417*	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	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)	12	1358	+		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)	417					B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Nonsense_Mutation	SNP	ENST00000379516.2	37	c.1250G>A	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	G	37	6.170456	0.97343	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	.	.	.	5.93	5.06	0.68205	.	0.056550	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1443	15.2238	0.73333	0.0674:0.0:0.9326:0.0	.	.	.	.	X	417;300	.	ENSP00000368831:W417X	W	+	2	0	SNX2	122189681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.716000	0.84723	1.513000	0.48852	0.655000	0.94253	TGG		0.328	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100		5	50	0	0	0	1	0	5	50					A	122161782	G	A	122161782	4	1	483	1	0	0	0	0	0	1	0	0	14891	1357	47	3	1296	3	SNX2	5	122161782	Nonsense_Mutation	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08		122161782	58753478	8	32278											
PRR3	80742	broad.mit.edu	37	chr6	30525976	30525976	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccaatggaaaacctggCgaccctaagtcaggtgagga	13	6	13	9	1	1	1	1	1	0	0	1	4	1	3	3	5	1	0	3	5	4	1			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr6:30525976C>T	ENST00000376560.3	+	2	615	c.156C>T	c.(154-156)ggC>ggT	p.G52G	PRR3_ENST00000376557.3_Intron|GNL1_ENST00000376621.3_5'Flank|PRR3_ENST00000498336.1_3'UTR	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	52	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						GAAAACCTGGCGACCCTAAGT	0.502																																						ENST00000376560.3																			0				lung(1)|ovary(1)	2						c.(154-156)ggC>ggT		proline rich 3							86	88	87					6																	30525976		1170	2502	3672	SO:0001819	synonymous_variant	80742						nucleic acid binding|zinc ion binding	g.chr6:30525976C>T	AK074531	CCDS43440.1, CCDS43441.1	6p21.32	2013-01-18	2004-05-27		ENSG00000204576	ENSG00000204576		"Zinc fingers, CCCH-type domain containing"	21149	protein-coding gene	gene with protein product			"proline-rich polpeptide 3"				Standard	NM_025263		Approved	CAT56, Em:AB014077.1, Em:AB023052.2	uc003nqi.2	P79522	OTTHUMG00000031037	ENST00000376560.3:c.156C>T	6.37:g.30525976C>T						PRR3_ENST00000498336.1_3'UTR|PRR3_ENST00000376557.3_Intron	p.G52G	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN			2	615	+			52			Pro-rich.		A1A4H4|Q5RJB5|Q5STN6	Silent	SNP	ENST00000376560.3	37	c.156C>T	CCDS43440.1																																																																																				0.502	PRR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076033.2	NM_025263		6	32	0	0	0	1	0	6	32					T	30525976	C	T	30525976	2	4	483	1	0	0	0	0	0	0	0	1	12598	755	27	1		1	PRR3	6	30525976	Silent	SNP	C	TCGA-ZG-A9L4-01A-11D-A41K-08		30525976	140589091	9	32279											
NCR3	259197	broad.mit.edu	37	chr6	31557641	31557641	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacacgtagatgctggcGtcatggcctcgcacgtcccg	6	8	12	15	5	1	1	1	0	0	1	3	1	2	1	2	2	2	4	2	2	1	1			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr6:31557641G>A	ENST00000340027.5	-	2	569	c.306C>T	c.(304-306)gaC>gaT	p.D102D	NCR3_ENST00000376073.4_Silent_p.D102D|NCR3_ENST00000376071.4_Silent_p.D77D|NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376072.3_Silent_p.D102D	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	102	Ig-like.				cell recognition (GO:0008037)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	integral component of plasma membrane (GO:0005887)		p.D102E(1)		cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						AGATGCTGGCGTCATGGCCTC	0.632																																						ENST00000376073.4																			1	Substitution - Missense(1)	p.D102E(1)	ovary(1)	cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						c.(304-306)gaC>gaT		natural cytotoxicity triggering receptor 3							141	126	131					6																	31557641		1511	2709	4220	SO:0001819	synonymous_variant	259197				cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity	g.chr6:31557641G>A	AB055881	CCDS34397.1, CCDS47401.1, CCDS47402.1	6p21.3	2013-01-11	2002-11-13	2002-11-15	ENSG00000204475	ENSG00000204475		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19077	protein-coding gene	gene with protein product		611550	"lymphocyte antigen 117"	LY117		8824804, 11782277	Standard	NM_001145466		Approved	1C7, NKp30, CD337	uc003nuv.2	O14931	OTTHUMG00000031123	ENST00000340027.5:c.306C>T	6.37:g.31557641G>A						NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000340027.5_Silent_p.D102D|NCR3_ENST00000376071.4_Silent_p.D77D|NCR3_ENST00000376072.3_Silent_p.D102D	p.D102D	NM_001145466.1	NP_001138938.1	O14931	NCTR3_HUMAN			2	569	-			102			Ig-like.		B0S8F2|B0S8F4|B0S8F5|O14930|O14932|O95667|O95668|O95669|Q5ST89|Q5ST90|Q5ST91|Q5ST92|Q5STA3	Silent	SNP	ENST00000340027.5	37	c.306C>T	CCDS34397.1																																																																																				0.632	NCR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076210.2			4	57	0	0	0	1	0	4	57					A	31557641	G	A	31557641	2	1	483	1	0	0	0	0	0	0	0	1	10239	1136	40	1		1	NCR3	6	31557641	Silent	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08	1031665	31557641	139557426	10	32280											
FILIP1	27145	broad.mit.edu	37	chr6	76022259	76022259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctccttttcggctgtcaCgtttactggtcggacagtaa	8	13	9	11	3	1	0	1	0	0	0	4	1	2	1	2	3	2	3	2	3	3	5			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr6:76022259C>T	ENST00000237172.7	-	5	3619	c.3289G>A	c.(3289-3291)Gtg>Atg	p.V1097M	FILIP1_ENST00000393004.2_Missense_Mutation_p.V1097M|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.V998M	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1097										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						TCGGCTGTCACGTTTACTGGT	0.512																																						ENST00000393004.2																			0				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						c.(3289-3291)Gtg>Atg		filamin A interacting protein 1							210	160	177					6																	76022259		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022259C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3289G>A	6.37:g.76022259C>T	ENSP00000237172:p.Val1097Met					FILIP1_ENST00000370020.1_Missense_Mutation_p.V998M|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.V1097M	p.V1097M			Q7Z7B0	FLIP1_HUMAN			5	3510	-			1097					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.3289G>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	6.602	0.479511	0.12581	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.18657	2.2;2.2;2.2	5.63	1.94	0.25998	.	0.697424	0.14833	N	0.295777	T	0.03564	0.0102	N	0.22421	0.69	0.09310	N	1	B;P;P	0.50272	0.003;0.787;0.933	B;B;B	0.35727	0.002;0.075;0.209	T	0.30504	-0.9976	10	0.49607	T	0.09	-8.1404	5.8776	0.18838	0.0:0.5182:0.1264:0.3554	.	1097;1097;1097	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	M	1097;1097;998	ENSP00000376728:V1097M;ENSP00000237172:V1097M;ENSP00000359037:V998M	ENSP00000237172:V1097M	V	-	1	0	FILIP1	76078979	0.029000	0.19370	0.727000	0.30756	0.246000	0.25737	0.881000	0.28173	0.076000	0.16826	-0.127000	0.14921	GTG		0.512	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		5	99	0	0	0	1	0	5	99					T	76022259	C	T	76022259	3	4	483	1	0	0	0	0	1	0	0	0	5894	536	19	1	360	1	FILIP1	6	76022259	Missense_Mutation	SNP	C	TCGA-ZG-A9L4-01A-11D-A41K-08	44464618	76022259	95092808	11	32281											
NUP43	348995	broad.mit.edu	37	chr6	150067084	150067084	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acacagatttacctgtaaatCcattacatcaccatggtgtc	13	12	5	11	0	1	1	1	0	0	1	3	1	2	1	3	1	2	1	3	1	4	4			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr6:150067084C>A	ENST00000340413.2	-	2	311	c.235G>T	c.(235-237)Gat>Tat	p.D79Y	NUP43_ENST00000460354.2_Missense_Mutation_p.D79Y|NUP43_ENST00000367403.3_Missense_Mutation_p.D140Y|NUP43_ENST00000367404.4_Missense_Mutation_p.D79Y|NUP43_ENST00000463048.3_5'UTR	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	79					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ACCTGTAAATCCATTACATCA	0.393																																						ENST00000340413.2																			0				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(235-237)Gat>Tat		nucleoporin 43kDa							124	121	122					6																	150067084		2203	4300	6503	SO:0001583	missense	348995				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	g.chr6:150067084C>A	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"WD repeat domain containing"	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.235G>T	6.37:g.150067084C>A	ENSP00000342262:p.Asp79Tyr					NUP43_ENST00000367403.3_Missense_Mutation_p.D140Y|NUP43_ENST00000460354.2_Missense_Mutation_p.D79Y|NUP43_ENST00000463048.3_5'UTR|NUP43_ENST00000367404.4_Missense_Mutation_p.D79Y	p.D79Y	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	2	311	-		Ovarian(120;0.0164)	79					B4E2F0|Q9H8S0	Missense_Mutation	SNP	ENST00000340413.2	37	c.235G>T	CCDS5218.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055218	0.93793	.	.	ENSG00000120253	ENST00000340413;ENST00000460354;ENST00000367403;ENST00000367404;ENST00000543637	T;T;T;T;T	0.71934	-0.12;-0.12;-0.61;-0.61;-0.61	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83880	0.5350	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.978;0.982	D	0.83410	0.0027	10	0.59425	D	0.04	-26.8533	20.6647	0.99678	0.0:1.0:0.0:0.0	.	79;79	B4E2F0;Q8NFH3	.;NUP43_HUMAN	Y	79;79;140;79;86	ENSP00000342262:D79Y;ENSP00000432401:D79Y;ENSP00000356373:D140Y;ENSP00000356374:D79Y;ENSP00000438031:D86Y	ENSP00000342262:D79Y	D	-	1	0	NUP43	150108777	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.890000	0.99128	0.655000	0.94253	GAT		0.393	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887		7	87	1	0	8.12818e-05	1	8.61588e-05	7	87					A	150067084	C	A	150067084	3	1	483	1	0	0	0	0	1	0	0	0	10765	855	30	5	935	5	NUP43	6	150067084	Missense_Mutation	SNP	C	TCGA-ZG-A9L4-01A-11D-A41K-08	74044825	150067084	21047983	12	32282											
TRYX3	136541	broad.mit.edu	37	chr7	141955354	141955354	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaaggcttatcactcaCggtaaattgcagtgtgcagc	10	12	10	9	1	2	1	2	1	0	0	2	1	2	1	0	2	3	4	0	2	4	4			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr7:141955354C>T	ENST00000552471.1	-	2	499		c.e2+1		PRSS58_ENST00000547058.2_Splice_Site			Q8IYP2	PRS58_HUMAN	protease, serine, 58							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TTATCACTCACGGTAAATTGC	0.502																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.e2+1		protease, serine, 58							74	74	74					7																	141955354		2203	4300	6503	SO:0001630	splice_region_variant	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141955354C>T		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.179+1G>A	7.37:g.141955354C>T						PRSS58_ENST00000547058.2_Splice_Site				Q8IYP2	PRS58_HUMAN			2	499	-								B3KVJ6|D3DXD2	Splice_Site	SNP	ENST00000552471.1	37		CCDS5871.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856601	0.71834	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2693	0.82607	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRSS58	141601831	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	4.803000	0.62546	2.711000	0.92665	0.655000	0.94253	.		0.502	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317	Intron	9	42	0	0	0	1	0	9	42					T	141955354	C	T	141955354	5	4	483	1	0	0	0	0	0	0	1	0	16601	550	19	1	561	1	TRYX3	7	141955354	Splice_Site	SNP	C	TCGA-ZG-A9L4-01A-11D-A41K-08		141955354	17183309	13	32283											
OR2A2	442361	broad.mit.edu	37	chr7	143806760	143806760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgattctcctctgtggaCtcttctctgtcttctataca	5	17	7	12	1	6	0	0	0	6	0	8	2	6	1	1	2	1	0	1	2	2	5			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr7:143806760C>T	ENST00000408979.2	+	1	154	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CCTCTGTGGACTCTTCTCTGT	0.517																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(85-87)Ctc>Ttc		olfactory receptor, family 2, subfamily A, member 2							157	152	154					7																	143806760		1997	4192	6189	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806760C>T		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"GPCR / Class A : Olfactory receptors"	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.85C>T	7.37:g.143806760C>T	ENSP00000386209:p.Leu29Phe						p.L29F	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	154	+	Melanoma(164;0.0783)		29					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.85C>T	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	C	8.766	0.924734	0.18056	.	.	ENSG00000221989	ENST00000408979	T	0.17213	2.29	3.61	-3.04	0.05412	.	1.063240	0.07613	N	0.925712	T	0.13713	0.0332	L	0.45137	1.4	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.35599	-0.9782	10	0.41790	T	0.15	-5.8423	7.335	0.26605	0.4221:0.302:0.276:0.0	.	29	Q6IF42	OR2A2_HUMAN	F	29	ENSP00000386209:L29F	ENSP00000386209:L29F	L	+	1	0	OR2A2	143437693	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-11.423000	0.00003	-0.828000	0.04273	-0.233000	0.12211	CTC		0.517	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			4	72	0	0	0	1	0	4	72					T	143806760	C	T	143806760	3	4	483	1	0	0	0	0	1	0	0	0	10977	565	20	3	87	3	OR2A2	7	143806760	Missense_Mutation	SNP	C	TCGA-ZG-A9L4-01A-11D-A41K-08	1851406	143806760	15331903	14	32284											
NAPRT1	93100	broad.mit.edu	37	chr8	144658675	144658675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccactgtccagcctcaCgcccactgcccggtagccca	7	6	8	20	2	2	0	2	0	0	0	3	0	3	0	6	1	3	1	6	1	1	1			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr8:144658675C>T	ENST00000449291.2	-	7	1243	c.949G>A	c.(949-951)Gtg>Atg	p.V317M	NAPRT1_ENST00000426292.3_Missense_Mutation_p.V317M|NAPRT1_ENST00000276844.7_Missense_Mutation_p.V317M|NAPRT1_ENST00000460623.1_5'Flank|NAPRT1_ENST00000435154.3_Missense_Mutation_p.V317M|RP11-661A12.9_ENST00000531730.1_RNA																endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	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)			TCCAGCCTCACGCCCACTGCC	0.627																																						ENST00000449291.2																			0				endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(949-951)Gtg>Atg		nicotinate phosphoribosyltransferase domain containing 1							33	33	33					8																	144658675		2198	4298	6496	SO:0001583	missense	93100				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	g.chr8:144658675C>T																												ENST00000449291.2:c.949G>A	8.37:g.144658675C>T	ENSP00000401508:p.Val317Met					RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000426292.3_Missense_Mutation_p.V317M|NAPRT1_ENST00000276844.7_Missense_Mutation_p.V317M|NAPRT1_ENST00000435154.3_Missense_Mutation_p.V317M	p.V317M			Q6XQN6	PNCB_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)		7	1243	-	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)		317						Missense_Mutation	SNP	ENST00000449291.2	37	c.949G>A	CCDS6403.2	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423498	0.62733	.	.	ENSG00000147813	ENST00000435154;ENST00000449291;ENST00000340490;ENST00000426292;ENST00000276844	T;T;T;T;T	0.61392	0.17;0.14;0.11;0.16;0.14	4.32	1.24	0.21308	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.312973	0.29715	N	0.011381	T	0.73984	0.3657	M	0.91510	3.215	0.34851	D	0.741658	D;P;D;D	0.67145	0.981;0.937;0.995;0.996	P;P;P;D	0.65773	0.822;0.572;0.897;0.938	T	0.76143	-0.3067	10	0.66056	D	0.02	-12.1517	5.4266	0.16429	0.345:0.5552:0.0:0.0998	.	317;317;317;317	C9J8U2;G5E977;Q6XQN6-3;Q6XQN6	.;.;.;PNCB_HUMAN	M	317	ENSP00000405670:V317M;ENSP00000401508:V317M;ENSP00000341136:V317M;ENSP00000390949:V317M;ENSP00000276844:V317M	ENSP00000276844:V317M	V	-	1	0	NAPRT1	144729818	0.379000	0.25123	0.135000	0.22099	0.876000	0.50452	0.947000	0.29082	0.031000	0.15407	0.643000	0.83706	GTG		0.627	NAPRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346708.3			5	10	0	0	0	1	0	5	10					T	144658675	C	T	144658675	3	4	483	1	0	0	0	0	1	0	0	0	10165	536	19	1	695	1	NAPRT1	8	144658675	Missense_Mutation	SNP	C	TCGA-ZG-A9L4-01A-11D-A41K-08		144658675	1705347	15	32285											
TAF1L	138474	broad.mit.edu	37	chr9	32631138	32631138	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagtcaatgaatgttttggCccattgtaggtcgcactgtt	8	15	11	7	1	1	2	1	2	0	0	2	2	1	2	1	2	0	4	1	2	3	5			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr9:32631138C>T	ENST00000242310.4	-	1	4529	c.4440G>A	c.(4438-4440)ggG>ggA	p.G1480G	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1480	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			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)		AATGTTTTGGCCCATTGTAGG	0.418																																						ENST00000242310.4																			0				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						c.(4438-4440)ggG>ggA		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							191	174	180					9																	32631138		2203	4300	6503	SO:0001819	synonymous_variant	138474				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	g.chr9:32631138C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4440G>A	9.37:g.32631138C>T							p.G1480G	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4529	-			1480			Bromo 1.		Q0VG57	Silent	SNP	ENST00000242310.4	37	c.4440G>A	CCDS35003.1																																																																																				0.418	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			4	174	0	0	0	1	0	4	174					T	32631138	C	T	32631138	2	4	483	1	0	0	0	0	0	0	0	1	15520	726	26	3		3	TAF1L	9	32631138	Silent	SNP	C	TCGA-ZG-A9L4-01A-11D-A41K-08		32631138	108582293	16	32286											
PHYHIPL	84457	broad.mit.edu	37	chr10	60996414	60996414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattatagaattctgcaccGcaggtaagagaactaggtac	16	9	9	7	1	1	2	0	0	1	2	1	3	1	2	1	2	3	4	1	2	8	6	rs530007000		TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr10:60996414G>A	ENST00000373880.4	+	3	739	c.475G>A	c.(475-477)Gca>Aca	p.A159T	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.A133T|PHYHIPL_ENST00000472199.1_3'UTR	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	159	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						ATTCTGCACCGCAGGTAAGAG	0.328													G|||	1	0.000199681	8e-04	0	5008	,	,		17885	0		0	False		,,,				2504	0					ENST00000373880.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						c.(475-477)Gca>Aca		phytanoyl-CoA 2-hydroxylase interacting protein-like							70	71	71					10																	60996414		2203	4299	6502	SO:0001583	missense	84457							g.chr10:60996414G>A	AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"Fibronectin type III domain containing"	29378	protein-coding gene	gene with protein product			"phytanoyl-CoA hydroxylase interacting protein-like"			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.475G>A	10.37:g.60996414G>A	ENSP00000362987:p.Ala159Thr					PHYHIPL_ENST00000472199.1_3'UTR|PHYHIPL_ENST00000373878.3_Missense_Mutation_p.A133T	p.A159T	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN			3	739	+			159					B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Missense_Mutation	SNP	ENST00000373880.4	37	c.475G>A	CCDS7254.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514593	0.85389	.	.	ENSG00000165443	ENST00000373880;ENST00000373878	D;D	0.85629	-2.01;-2.01	5.89	5.89	0.94794	Immunoglobulin-like fold (1);	0.160665	0.42821	D	0.000656	D	0.89801	0.6820	M	0.74258	2.255	0.80722	D	1	D;D	0.61697	0.99;0.983	P;P	0.51135	0.66;0.539	D	0.90493	0.4468	10	0.87932	D	0	-7.1566	20.2361	0.98357	0.0:0.0:1.0:0.0	.	133;159	Q96FC7-2;Q96FC7	.;PHIPL_HUMAN	T	159;133	ENSP00000362987:A159T;ENSP00000362985:A133T	ENSP00000362985:A133T	A	+	1	0	PHYHIPL	60666420	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	9.837000	0.99465	2.791000	0.96007	0.591000	0.81541	GCA		0.328	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1	NM_032439		4	32	0	0	0	1	0	4	32					A	60996414	G	A	60996414	3	1	483	1	0	0	0	0	1	0	0	0	11867	1087	38	1	517	1	PHYHIPL	10	60996414	Missense_Mutation	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08		60996414	74538333	17	32287											
OR6Q1	219952	broad.mit.edu	37	chr11	57798830	57798830	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatttgtatgcctctccacTatggggcttttgtgtcctgg	4	16	10	11	0	1	0	0	0	1	0	3	0	2	0	4	3	1	2	4	3	2	5			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr11:57798830T>G	ENST00000302622.3	+	1	429	c.406T>G	c.(406-408)Tat>Gat	p.Y136D	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GCCTCTCCACTATGGGGCTTT	0.527																																						ENST00000302622.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(406-408)Tat>Gat		olfactory receptor, family 6, subfamily Q, member 1							138	127	131					11																	57798830		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57798830T>G	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"GPCR / Class A : Olfactory receptors"	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.406T>G	11.37:g.57798830T>G	ENSP00000307734:p.Tyr136Asp					OR9Q1_ENST00000335397.3_Intron	p.Y136D	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN			1	429	+		Breast(21;0.0707)|all_epithelial(135;0.142)	136					B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.406T>G	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069717	0.76301	.	.	ENSG00000172381	ENST00000302622	T	0.01947	4.54	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34986	N	0.003537	T	0.23926	0.0579	H	0.98446	4.235	0.43632	D	0.996026	D	0.89917	1.0	D	0.97110	1.0	T	0.44772	-0.9306	10	0.87932	D	0	.	13.7793	0.63073	0.0:0.0:0.0:1.0	.	136	Q8NGQ2	OR6Q1_HUMAN	D	136	ENSP00000307734:Y136D	ENSP00000307734:Y136D	Y	+	1	0	OR6Q1	57555406	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	7.565000	0.82337	1.897000	0.54924	0.523000	0.50628	TAT		0.527	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		6	61	0	0	0	1	0	6	61					G	57798830	T	G	57798830	3	3	483	1	0	0	0	0	1	0	0	0	11208	1522	53	5	408	5	OR6Q1	11	57798830	Missense_Mutation	SNP	T	TCGA-ZG-A9L4-01A-11D-A41K-08		57798830	77207686	18	32288											
TMEM151A	256472	broad.mit.edu	37	chr11	66063023	66063023	+	Frame_Shift_Del	DEL	C	C	-																															gccgtggagaggacacggaaCccctggagagcccgccctgc																										TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr11:66063023delC	ENST00000327259.4	+	2	1450	c.1306delC	c.(1306-1308)cccfs	p.P436fs		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	436						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						GGACACGGAACCCCTGGAGAG	0.731																																						ENST00000327259.4																			0				central_nervous_system(1)|kidney(4)|lung(6)	11						c.(1306-1308)ccfs		transmembrane protein 151A							5	6	6					11																	66063023		1557	3176	4733	SO:0001589	frameshift_variant	256472					integral to membrane		g.chr11:66063023delC	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"transmembrane protein 151"	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.1306delC	11.37:g.66063023delC	ENSP00000326244:p.Pro436fs						p.P436fs	NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN			2	1450	+			436					Q8ND14	Frame_Shift_Del	DEL	ENST00000327259.4	37	c.1306delC	CCDS8133.1																																																																																				0.731	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266		2	4						2	4	---	---	---	---	-	66063023	C	-	66063023	7	5	483	1	0	1	0	1	0	0	0	0	16067	507	18	0	1312	0	TMEM151A	11	66063023	Frame_Shift_Del	DEL	C	TCGA-ZG-A9L4-01A-11D-A41K-08	8264193	66063023	68943493	19	32289											
OR10G8	219869	broad.mit.edu	37	chr11	123900679	123900679	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttcctctacagggtcaTgtcctgtgatcgctacctgg	5	14	11	11	1	2	1	1	1	1	0	5	1	4	1	3	2	2	2	3	2	2	3			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr11:123900679T>A	ENST00000431524.1	+	1	383	c.350T>A	c.(349-351)aTg>aAg	p.M117K		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TACAGGGTCATGTCCTGTGAT	0.557																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(349-351)aTg>aAg		olfactory receptor, family 10, subfamily G, member 8							152	143	146					11																	123900679		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900679T>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.350T>A	11.37:g.123900679T>A	ENSP00000389072:p.Met117Lys						p.M117K	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	383	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	117					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.350T>A	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319794	0.60524	.	.	ENSG00000234560	ENST00000431524	T	0.47869	0.83	3.04	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000019	T	0.78786	0.4338	H	0.98883	4.36	0.46478	D	0.999064	D	0.71674	0.998	D	0.81914	0.995	D	0.84695	0.0725	10	0.87932	D	0	.	10.5975	0.45347	0.0:0.0:0.0:1.0	.	117	Q8NGN5	O10G8_HUMAN	K	117	ENSP00000389072:M117K	ENSP00000389072:M117K	M	+	2	0	OR10G8	123405889	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	4.253000	0.58791	1.377000	0.46286	0.528000	0.53228	ATG		0.557	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		11	107	0	0	0	1	0	11	107					A	123900679	T	A	123900679	3	1	483	1	0	0	0	0	1	0	0	0	10903	1464	51	5	352	5	OR10G8	11	123900679	Missense_Mutation	SNP	T	TCGA-ZG-A9L4-01A-11D-A41K-08	57837656	123900679	11105837	20	32290											
PYGL	5836	broad.mit.edu	37	chr14	51375588	51375588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctttgaagaggtcaggctGcttgggagaaaaaaagccat	14	9	12	6	0	2	3	1	1	1	2	2	4	2	3	1	3	2	2	1	3	4	2			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr14:51375588G>T	ENST00000216392.7	-	18	2595	c.2263C>A	c.(2263-2265)Cag>Aag	p.Q755K	PYGL_ENST00000532462.1_Missense_Mutation_p.Q755K|PYGL_ENST00000544180.2_Missense_Mutation_p.Q721K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	755					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			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)	AGGTCAGGCTGCTTGGGAGAA	0.438																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(2263-2265)Cag>Aag		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						171	175	174					14																	51375588		2203	4300	6503	SO:0001583	missense	5836				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	g.chr14:51375588G>T		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"Glycogen phosphorylases"	9725	protein-coding gene	gene with protein product	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	613741	"phosphorylase, glycogen; liver"			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2263C>A	14.37:g.51375588G>T	ENSP00000216392:p.Gln755Lys					PYGL_ENST00000544180.2_Missense_Mutation_p.Q721K|PYGL_ENST00000532462.1_Missense_Mutation_p.Q755K	p.Q755K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			18	2595	-	all_epithelial(31;0.00825)|Breast(41;0.148)		755					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.2263C>A	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602939	0.46423	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.92805	-3.11;-3.11;-3.11	5.73	5.73	0.89815	.	0.206703	0.51477	D	0.000091	D	0.86372	0.5917	L	0.31420	0.93	0.37289	D	0.908182	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.12837	0.003;0.008;0.001	T	0.83283	-0.0037	10	0.54805	T	0.06	-19.9596	9.9839	0.41830	0.0:0.1478:0.6991:0.153	.	721;721;755	F5H816;B4DUB7;P06737	.;.;PYGL_HUMAN	K	755;721;755	ENSP00000431657:Q755K;ENSP00000443787:Q721K;ENSP00000216392:Q755K	ENSP00000216392:Q755K	Q	-	1	0	PYGL	50445338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.164000	0.58190	2.709000	0.92574	0.655000	0.94253	CAG		0.438	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		4	103	1	0	0.150653	1	0.153551	4	103					T	51375588	G	T	51375588	3	4	483	1	0	0	0	0	1	0	0	0	12861	1328	46	5	292	5	PYGL	14	51375588	Missense_Mutation	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08		51375588	55973952	21	32291											
LTBP2	4053	broad.mit.edu	37	chr14	74967622	74967622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagtgggggggccctgcctCagccacatatcccggggagc	6	5	16	14	1	1	0	1	0	0	0	2	1	2	1	4	5	3	1	4	5	1	1			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr14:74967622C>T	ENST00000261978.4	-	36	5817	c.5431G>A	c.(5431-5433)Gag>Aag	p.E1811K	LTBP2_ENST00000556690.1_Missense_Mutation_p.E1767K	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1811	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCCCTGCCTCAGCCACATAT	0.612																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(5431-5433)Gag>Aag		latent transforming growth factor beta binding protein 2							44	43	43					14																	74967622		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74967622C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.5431G>A	14.37:g.74967622C>T	ENSP00000261978:p.Glu1811Lys					LTBP2_ENST00000556690.1_Missense_Mutation_p.E1767K	p.E1811K	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	36	5817	-			1811			EGF-like 20; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.5431G>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	6.375	0.437385	0.12104	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.91521	-2.86;-2.86	5.4	2.29	0.28610	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.575265	0.14453	N	0.318673	T	0.68476	0.3005	N	0.01235	-0.94	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.58463	-0.7632	10	0.23891	T	0.37	.	0.7418	0.00975	0.1592:0.3481:0.1782:0.3145	.	1811	Q14767	LTBP2_HUMAN	K	1811;1767	ENSP00000261978:E1811K;ENSP00000451477:E1767K	ENSP00000261978:E1811K	E	-	1	0	LTBP2	74037375	0.029000	0.19370	0.341000	0.25589	0.380000	0.30137	1.348000	0.33987	0.770000	0.33336	0.655000	0.94253	GAG		0.612	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		6	46	0	0	0	1	0	6	46					T	74967622	C	T	74967622	3	4	483	1	0	0	0	0	1	0	0	0	9074	835	29	3	38	3	LTBP2	14	74967622	Missense_Mutation	SNP	C	TCGA-ZG-A9L4-01A-11D-A41K-08	23592034	74967622	32381918	22	32292											
POLG	5428	broad.mit.edu	37	chr15	89860013	89860013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctggcttcgtttttccaagGagcctttggtgagttcaatt	6	16	11	8	1	1	1	1	1	0	0	3	2	2	2	2	3	1	4	2	3	2	6			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr15:89860013G>A	ENST00000268124.5	-	23	4022	c.3689C>T	c.(3688-3690)tCc>tTc	p.S1230F	FANCI_ENST00000300027.8_3'UTR|POLG_ENST00000442287.2_Missense_Mutation_p.S1230F|FANCI_ENST00000310775.7_3'UTR	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1230					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TTTTTCCAAGGAGCCTTTGGT	0.507								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(3688-3690)tCc>tTc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							109	101	104					15																	89860013		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89860013G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.3689C>T	15.37:g.89860013G>A	ENSP00000268124:p.Ser1230Phe					FANCI_ENST00000300027.8_3'UTR|POLG_ENST00000442287.2_Missense_Mutation_p.S1230F|FANCI_ENST00000310775.7_3'UTR	p.S1230F	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		23	4022	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		1230					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.3689C>T	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884752	0.91814	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.96685	-4.09;-4.09	5.95	5.95	0.96441	.	0.107271	0.64402	D	0.000003	D	0.96433	0.8836	L	0.55481	1.735	0.58432	D	0.999998	D	0.57899	0.981	P	0.55161	0.77	D	0.96169	0.9121	10	0.72032	D	0.01	-33.2579	13.5695	0.61838	0.0706:0.0:0.9294:0.0	.	1230	P54098	DPOG1_HUMAN	F	1230	ENSP00000268124:S1230F;ENSP00000399851:S1230F	ENSP00000268124:S1230F	S	-	2	0	POLG	87661017	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.690000	0.84178	2.824000	0.97209	0.655000	0.94253	TCC		0.507	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		6	55	0	0	0	1	0	6	55					A	89860013	G	A	89860013	3	1	483	1	0	0	0	0	1	0	0	0	12200	1174	41	3	34	3	POLG	15	89860013	Missense_Mutation	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08		89860013	12671379	23	32293											
CIITA	4261	broad.mit.edu	37	chr16	11017093	11017093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccccttgcaggatgtggaCgcccaccatcccattcagtg	7	8	9	17	1	1	0	1	0	0	0	2	2	2	2	6	2	1	1	6	2	0	2			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr16:11017093C>T	ENST00000324288.8	+	19	3459	c.3326C>T	c.(3325-3327)aCg>aTg	p.T1109M	CIITA_ENST00000381835.5_Missense_Mutation_p.T525M	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1109					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGGATGTGGACGCCCACCATC	0.607			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"class II, major histocompatibility complex, transactivator"			L	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"		"PMBL, Hodgkin Lymphona, "		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(3325-3327)aCg>aTg		class II, major histocompatibility complex, transactivator							119	113	115					16																	11017093		2197	4300	6497	SO:0001583	missense	4261				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	g.chr16:11017093C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.3326C>T	16.37:g.11017093C>T	ENSP00000316328:p.Thr1109Met					CIITA_ENST00000381835.5_Missense_Mutation_p.T525M	p.T1109M	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			19	3459	+			1109					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.3326C>T	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407241	0.62399	.	.	ENSG00000179583	ENST00000324288;ENST00000381835	T;T	0.73047	-0.71;0.65	4.61	3.59	0.41128	.	0.168088	0.29133	N	0.013043	T	0.71854	0.3389	L	0.31476	0.935	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;0.998	P;D;P	0.69479	0.899;0.964;0.835	T	0.73238	-0.4046	10	0.72032	D	0.01	.	8.9943	0.36043	0.2372:0.7628:0.0:0.0	.	525;1109;1109	E9PFE0;A0N0N9;P33076	.;.;C2TA_HUMAN	M	1109;525	ENSP00000316328:T1109M;ENSP00000371257:T525M	ENSP00000316328:T1109M	T	+	2	0	CIITA	10924594	0.897000	0.30589	0.992000	0.48379	0.886000	0.51366	1.562000	0.36353	2.373000	0.80994	0.655000	0.94253	ACG		0.607	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		8	114	0	0	0	1	0	8	114					T	11017093	C	T	11017093	3	4	483	1	0	0	0	0	1	0	0	0	3428	536	19	1	3400	1	CIITA	16	11017093	Missense_Mutation	SNP	C	TCGA-ZG-A9L4-01A-11D-A41K-08		11017093	79337660	24	32294											
ATP2A1	487	broad.mit.edu	37	chr16	28900176	28900176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcaaagaagaatgccattGtaagaagcttgccctccgta	13	9	10	9	1	0	3	0	0	0	3	1	3	1	3	3	1	3	4	3	1	6	4			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr16:28900176G>T	ENST00000357084.3	+	9	1264	c.997G>T	c.(997-999)Gta>Tta	p.V333L	ATP2A1_ENST00000395503.4_Missense_Mutation_p.V333L|ATP2A1_ENST00000536376.1_Missense_Mutation_p.V208L	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	333					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			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						GAATGCCATTGTAAGAAGCTT	0.587																																						ENST00000395503.4																			0				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						c.(997-999)Gta>Tta		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							192	166	175					16																	28900176		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28900176G>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.997G>T	16.37:g.28900176G>T	ENSP00000349595:p.Val333Leu					ATP2A1_ENST00000536376.1_Missense_Mutation_p.V208L|ATP2A1_ENST00000357084.3_Missense_Mutation_p.V333L	p.V333L	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			9	1181	+			333					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.997G>T	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575677	0.86645	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.93307	-3.2;-3.2;-3.17	5.42	5.42	0.78866	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.95655	0.8587	M	0.89785	3.06	0.80722	D	1	B;B;B	0.26147	0.143;0.075;0.061	B;B;B	0.36959	0.237;0.237;0.152	D	0.94888	0.8045	10	0.87932	D	0	.	17.984	0.89151	0.0:0.0:1.0:0.0	.	208;333;333	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	L	333;333;370;208	ENSP00000349595:V333L;ENSP00000378879:V333L;ENSP00000443101:V208L	ENSP00000349595:V333L	V	+	1	0	ATP2A1	28807677	1.000000	0.71417	0.977000	0.42913	0.567000	0.35839	9.838000	0.99474	2.538000	0.85594	0.467000	0.42956	GTA		0.587	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		14	104	1	0	1.5842e-08	1	1.78644e-08	14	104					T	28900176	G	T	28900176	3	4	483	1	0	0	0	0	1	0	0	0	1136	1377	48	5	1031	5	ATP2A1	16	28900176	Missense_Mutation	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08	17883083	28900176	61454577	25	32295											
EDC4	23644	broad.mit.edu	37	chr16	67914636	67914636	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcccgtggttttggctcCtctgcaccagagggccttga	4	12	12	13	1	1	2	0	1	1	1	3	2	3	2	4	3	1	3	4	3	0	3			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr16:67914636C>T	ENST00000358933.5	+	18	2513	c.2274C>T	c.(2272-2274)tcC>tcT	p.S758S	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	758					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GTTTTGGCTCCTCTGCACCAG	0.662																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(2272-2274)tcC>tcT		enhancer of mRNA decapping 4							155	147	150					16																	67914636		2198	4300	6498	SO:0001819	synonymous_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67914636C>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2274C>T	16.37:g.67914636C>T							p.S758S	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	18	2513	+		Ovarian(137;0.0563)	758					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	c.2274C>T	CCDS10849.1																																																																																				0.662	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		10	134	0	0	0	1	0	10	134					T	67914636	C	T	67914636	2	4	483	1	0	0	0	0	0	0	0	1	4908	668	24	3		3	EDC4	16	67914636	Silent	SNP	C	TCGA-ZG-A9L4-01A-11D-A41K-08	39014460	67914636	22440117	26	32296											
HIC1	3090	broad.mit.edu	37	chr17	1960006	1960006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctggacacgatggaggcgCccggccactccaggcagctg	7	5	15	14	3	0	0	0	0	0	0	1	3	1	2	3	5	2	3	3	5	0	0			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr17:1960006C>T	ENST00000322941.3	+	2	79	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S	HIC1_ENST00000399849.3_Missense_Mutation_p.P8S	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	27					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GATGGAGGCGCCCGGCCACTC	0.687																																						ENST00000399849.2																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(22-24)Ccc>Tcc		hypermethylated in cancer 1							9	11	11					17																	1960006		2066	4191	6257	SO:0001583	missense	3090				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:1960006C>T		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.79C>T	17.37:g.1960006C>T	ENSP00000314080:p.Pro27Ser					HIC1_ENST00000322941.3_Missense_Mutation_p.P27S	p.P8S	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN		READ - Rectum adenocarcinoma(1115;0.236)	2	182	+			27					D3DTI4	Missense_Mutation	SNP	ENST00000322941.3	37	c.22C>T	CCDS42229.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.902916	0.72754	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.21932	1.98;1.98	4.37	4.37	0.52481	BTB/POZ fold (2);	.	.	.	.	T	0.31734	0.0806	N	0.19112	0.55	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	T	0.22208	-1.0223	9	0.87932	D	0	.	15.6383	0.76973	0.0:1.0:0.0:0.0	.	27	Q14526	HIC1_HUMAN	S	8;27	ENSP00000382742:P8S;ENSP00000314080:P27S	ENSP00000314080:P27S	P	+	1	0	HIC1	1906756	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.346000	0.79347	2.267000	0.75376	0.555000	0.69702	CCC		0.687	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	NM_006497		4	19	0	0	0	1	0	4	19					T	1960006	C	T	1960006	3	4	483	1	0	0	0	0	1	0	0	0	7101	739	26	3	85	3	HIC1	17	1960006	Missense_Mutation	SNP	C	TCGA-ZG-A9L4-01A-11D-A41K-08		1960006	79235204	27	32297											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29850576	29850576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcagcaatggcagcaccGaagacctgttccgggacagc	11	4	13	13	2	0	1	0	0	0	1	1	3	1	2	3	2	4	6	3	2	2	1			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr17:29850576G>A	ENST00000325874.8	+	8	1205	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.E224K	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	326	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TGGCAGCACCGAAGACCTGTT	0.607																																						ENST00000325874.8																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(976-978)Gaa>Aaa		RAB11 family interacting protein 4 (class II)							162	148	153					17																	29850576		2203	4300	6503	SO:0001583	missense	84440				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	g.chr17:29850576G>A	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"EF-hand domain containing"	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.976G>A	17.37:g.29850576G>A	ENSP00000312837:p.Glu326Lys					RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.E224K	p.E326K	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN			8	1205	+		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)	326			Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	c.976G>A	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	G	35	5.579595	0.96565	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.77363	0.4119	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.65987	0.915;0.94	T	0.77101	-0.2712	8	.	.	.	-31.7962	15.5137	0.75806	0.0:0.0:1.0:0.0	.	224;326	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	K	326	.	.	E	+	1	0	RAB11FIP4	26874696	1.000000	0.71417	0.966000	0.40874	0.972000	0.66771	9.240000	0.95396	2.745000	0.94114	0.484000	0.47621	GAA		0.607	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		4	57	0	0	0	1	0	4	57					A	29850576	G	A	29850576	3	1	483	1	0	0	0	0	1	0	0	0	12896	1059	37	2	1006	2	RAB11FIP4	17	29850576	Missense_Mutation	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08	27890570	29850576	51344634	28	32298											
KRT27	342574	broad.mit.edu	37	chr17	38935974	38935974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcgttgaaccaggcctccGcgtccctgcggttctgctct	3	13	10	15	4	2	1	0	1	2	0	5	1	4	1	4	2	3	3	4	2	1	3			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr17:38935974G>A	ENST00000301656.3	-	4	864	c.824C>T	c.(823-825)gCg>gTg	p.A275V	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CCAGGCCTCCGCGTCCCTGCG	0.652																																						ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(823-825)gCg>gTg		keratin 27							37	36	36					17																	38935974		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38935974G>A	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.824C>T	17.37:g.38935974G>A	ENSP00000301656:p.Ala275Val						p.A275V	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			4	864	-		Breast(137;0.000812)	275			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000301656.3	37	c.824C>T	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995752	0.54147	.	.	ENSG00000171446	ENST00000301656	D	0.89875	-2.58	5.51	4.54	0.55810	Filament (1);	0.101398	0.43747	N	0.000523	D	0.85873	0.5798	L	0.42008	1.315	0.09310	N	0.999999	P	0.50443	0.935	P	0.48425	0.577	T	0.76222	-0.3038	10	0.19590	T	0.45	.	10.2687	0.43470	0.1686:0.0:0.8314:0.0	.	275	Q7Z3Y8	K1C27_HUMAN	V	275	ENSP00000301656:A275V	ENSP00000301656:A275V	A	-	2	0	KRT27	36189500	0.043000	0.20138	0.621000	0.29145	0.882000	0.50991	1.391000	0.34475	1.465000	0.48006	0.585000	0.79938	GCG		0.652	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		4	29	0	0	0	1	0	4	29					A	38935974	G	A	38935974	3	1	483	1	0	0	0	0	1	0	0	0	8464	1087	38	1	575	1	KRT27	17	38935974	Missense_Mutation	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08	9085398	38935974	42259236	29	32299											
HOXB4	3214	broad.mit.edu	37	chr17	46655387	46655387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgggaggagggccccggCgggtggcggcgcaggagccc	4	2	21	14	5	0	0	0	0	0	0	1	3	1	3	4	8	1	1	4	8	0	0			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr17:46655387C>T	ENST00000332503.5	-	1	2086	c.295G>A	c.(295-297)Gcc>Acc	p.A99T	HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000498678.1_Intron|MIR10A_ENST00000385043.1_RNA|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000485909.2_5'Flank	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	99	Pro-rich (part of the transcriptional activation domain).				anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						AGGGCCCCGGCGGGTGGCGGC	0.836																																						ENST00000332503.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						c.(295-297)Gcc>Acc		homeobox B4							3	4	4					17																	46655387		1139	2535	3674	SO:0001583	missense	3214					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46655387C>T		CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"Homeoboxes / ANTP class : HOXL subclass"	5115	protein-coding gene	gene with protein product		142965	"homeo box B4"	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.295G>A	17.37:g.46655387C>T	ENSP00000328928:p.Ala99Thr					HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron	p.A99T	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN			1	2086	-			99			Pro-rich (part of the transcriptional activation domain).		Q9NTA0	Missense_Mutation	SNP	ENST00000332503.5	37	c.295G>A	CCDS11529.1	.	.	.	.	.	.	.	.	.	.	C	4.687	0.127662	0.08981	.	.	ENSG00000182742	ENST00000332503	T	0.42513	0.97	3.23	-0.831	0.10789	.	1.235630	0.06291	N	0.699200	T	0.24160	0.0585	N	0.21142	0.635	0.21762	N	0.99955	B	0.29590	0.25	B	0.09377	0.004	T	0.13953	-1.0490	10	0.11485	T	0.65	.	10.0192	0.42033	0.5351:0.4649:0.0:0.0	.	99	P17483	HXB4_HUMAN	T	99	ENSP00000328928:A99T	ENSP00000328928:A99T	A	-	1	0	HOXB4	44010386	0.007000	0.16637	0.649000	0.29536	0.489000	0.33432	-0.114000	0.10757	-0.127000	0.11661	0.313000	0.20887	GCC		0.836	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2			2	1	0	0	0	1	0	2	1					T	46655387	C	T	46655387	3	4	483	1	0	0	0	0	1	0	0	0	7303	768	27	1	468	1	HOXB4	17	46655387	Missense_Mutation	SNP	C	TCGA-ZG-A9L4-01A-11D-A41K-08	7719413	46655387	34539823	30	32300											
C3	718	broad.mit.edu	37	chr19	6718310	6718310	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctggatgaagaggtacccGctctgcaggctgaccagcac	9	7	13	12	1	2	3	0	2	2	1	2	4	2	4	2	3	3	5	2	3	2	1			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr19:6718310G>A	ENST00000245907.6	-	3	473	c.381C>T	c.(379-381)agC>agT	p.S127S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	127					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			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)	Intravenous Immunoglobulin(DB00028)	AGAGGTACCCGCTCTGCAGGC	0.647																																						ENST00000245907.6																			0				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						c.(379-381)agC>agT		complement component 3							94	78	83					19																	6718310		2203	4300	6503	SO:0001819	synonymous_variant	718				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	g.chr19:6718310G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.381C>T	19.37:g.6718310G>A							p.S127S	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	3	473	-			127					A7E236	Silent	SNP	ENST00000245907.6	37	c.381C>T	CCDS32883.1																																																																																				0.647	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		4	22	0	0	0	1	0	4	22					A	6718310	G	A	6718310	2	1	483	1	0	0	0	0	0	0	0	1	2204	1078	38	1		1	C3	19	6718310	Silent	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08		6718310	52410673	31	32301											
CPT1C	126129	broad.mit.edu	37	chr19	50212006	50212006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggctacagaatgctttcaGctgggctactcaacagacgg	10	9	11	11	1	2	2	2	0	0	2	2	2	2	2	0	3	5	4	0	3	4	3			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr19:50212006G>C	ENST00000392518.4	+	14	1848	c.1476G>C	c.(1474-1476)caG>caC	p.Q492H	CPT1C_ENST00000323446.5_Missense_Mutation_p.Q492H|CPT1C_ENST00000598293.1_Missense_Mutation_p.Q492H|CPT1C_ENST00000354199.5_Missense_Mutation_p.Q492H|CPT1C_ENST00000405931.2_Missense_Mutation_p.Q481H	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	492					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		AATGCTTTCAGCTGGGCTACT	0.602																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1474-1476)caG>caC		carnitine palmitoyltransferase 1C							133	120	125					19																	50212006		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50212006G>C	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1476G>C	19.37:g.50212006G>C	ENSP00000376303:p.Gln492His					CPT1C_ENST00000354199.5_Missense_Mutation_p.Q492H|CPT1C_ENST00000598293.1_Missense_Mutation_p.Q492H|CPT1C_ENST00000405931.2_Missense_Mutation_p.Q481H|CPT1C_ENST00000323446.5_Missense_Mutation_p.Q492H	p.Q492H	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	14	1848	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	492					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.1476G>C	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	8.589	0.884123	0.17467	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	4.42	-0.594	0.11664	.	0.306670	0.23450	N	0.048041	T	0.74351	0.3705	N	0.20807	0.61	0.27710	N	0.945502	B;B;B;B	0.14438	0.003;0.01;0.0;0.0	B;B;B;B	0.18263	0.021;0.01;0.002;0.008	T	0.58148	-0.7687	10	0.21014	T	0.42	-10.8603	4.1122	0.10063	0.203:0.0:0.4772:0.3198	.	363;492;481;492	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	H	492;492;481;492;363	ENSP00000376303:Q492H;ENSP00000346138:Q492H;ENSP00000384465:Q481H;ENSP00000319343:Q492H	ENSP00000295404:Q363H	Q	+	3	2	CPT1C	54903818	0.999000	0.42202	0.998000	0.56505	0.976000	0.68499	0.720000	0.25896	0.115000	0.18071	0.456000	0.33151	CAG		0.602	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		4	89	0	0	0	1	0	4	89					C	50212006	G	C	50212006	3	2	483	1	0	0	0	0	1	0	0	0	3833	962	34	5	1522	5	CPT1C	19	50212006	Missense_Mutation	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08	43493696	50212006	8916977	32	32302											
ZNF671	79891	broad.mit.edu	37	chr19	58232392	58232392	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgtgctcaatcaggccGgagatttgtctaaagaattt	10	12	10	9	2	3	2	2	0	1	2	3	3	3	2	2	2	1	1	2	2	4	3	rs377518791		TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr19:58232392G>A	ENST00000317398.6	-	4	1157	c.1062C>T	c.(1060-1062)tcC>tcT	p.S354S	AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.S256S|ZNF671_ENST00000594803.1_5'Flank	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAATCAGGCCGGAGATTTGTC	0.453													G|||	1	0.000199681	0	0	5008	,	,		19319	0		0	False		,,,				2504	0.001					ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1060-1062)tcC>tcT		zinc finger protein 671		G		0,4406		0,0,2203	70	64	66		1062	-3.7	0	19		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF671	NM_024833.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		354/535	58232392	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232392G>A		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"Zinc fingers, C2H2-type", "-"	26279	protein-coding gene	gene with protein product	"hypothetical protein FLJ23506"					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1062C>T	19.37:g.58232392G>A						AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.S256S	p.S354S	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1157	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	354					A6NF07|Q9H5E9	Silent	SNP	ENST00000317398.6	37	c.1062C>T	CCDS12961.1																																																																																				0.453	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		4	61	0	0	0	1	0	4	61					A	58232392	G	A	58232392	2	1	483	1	0	0	0	0	0	0	0	1	18075	1103	39	2		2	ZNF671	19	58232392	Silent	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08	8020386	58232392	896591	33	32303											
DEFB129	140881	broad.mit.edu	37	chr20	210386	210386	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactgccaacaccatcactgGagctagaggaagcagaagag	15	5	11	10	0	1	3	1	0	0	3	1	5	1	5	2	2	5	2	2	2	5	2			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr20:210386G>T	ENST00000246105.4	+	2	557	c.526G>T	c.(526-528)Gag>Tag	p.E176*		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	176					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				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)			ACCATCACTGGAGCTAGAGGA	0.443																																						ENST00000246105.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9						c.(526-528)Gag>Tag		defensin, beta 129							87	80	82					20																	210386		2203	4300	6503	SO:0001587	stop_gained	140881				defense response to bacterium	extracellular region		g.chr20:210386G>T	AY358186	CCDS12992.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125903	ENSG00000125903		"Defensins, beta"	16218	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 87"	C20orf87		11854508	Standard	NM_080831		Approved	bA530N10.3, DEFB-29	uc002wda.3	Q9H1M3	OTTHUMG00000031618	ENST00000246105.4:c.526G>T	20.37:g.210386G>T	ENSP00000246105:p.Glu176*						p.E176*	NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	557	+		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)	176					Q8NES7	Nonsense_Mutation	SNP	ENST00000246105.4	37	c.526G>T	CCDS12992.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098522	0.37048	.	.	ENSG00000125903	ENST00000246105	.	.	.	4.29	1.08	0.20341	.	1.348300	0.05512	N	0.560470	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.8572	4.0026	0.09587	0.2333:0.194:0.5727:0.0	.	.	.	.	X	176	.	ENSP00000246105:E176X	E	+	1	0	DEFB129	158386	0.001000	0.12720	0.001000	0.08648	0.071000	0.16799	0.346000	0.19997	0.278000	0.22164	0.563000	0.77884	GAG		0.443	DEFB129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077430.2	NM_080831		5	29	1	0	2.0095e-06	1	2.17354e-06	5	29					T	210386	G	T	210386	4	4	483	1	0	0	0	0	0	1	0	0	4415	1175	41	5	532	5	DEFB129	20	210386	Nonsense_Mutation	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08		210386	62815134	34	32304											
KIF16B	55614	broad.mit.edu	37	chr20	16354924	16354924	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatccatgaggggaaccaGgtgtgatttttcagcactga	10	10	13	8	0	1	3	1	3	0	0	2	4	2	4	2	4	2	2	2	4	1	2			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr20:16354924G>A	ENST00000354981.2	-	20	3485	c.3328C>T	c.(3328-3330)Ctg>Ttg	p.L1110L	KIF16B_ENST00000378003.2_Silent_p.L336L|KIF16B_ENST00000355755.3_Silent_p.L1110L|KIF16B_ENST00000408042.1_Silent_p.L1110L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1110					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			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						AGGGGAACCAGGTGTGATTTT	0.458																																						ENST00000354981.2																			0				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						c.(3328-3330)Ctg>Ttg		kinesin family member 16B							109	94	99					20																	16354924		2203	4300	6503	SO:0001819	synonymous_variant	55614				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	g.chr20:16354924G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3328C>T	20.37:g.16354924G>A						KIF16B_ENST00000378003.2_Silent_p.L336L|KIF16B_ENST00000355755.3_Silent_p.L1110L|KIF16B_ENST00000408042.1_Silent_p.L1110L	p.L1110L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			20	3485	-			1110					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.3328C>T	CCDS13122.1																																																																																				0.458	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		5	79	0	0	0	1	0	5	79					A	16354924	G	A	16354924	2	1	483	1	0	0	0	0	0	0	0	1	8278	991	35	3		3	KIF16B	20	16354924	Silent	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08	16144538	16354924	46670596	35	32305											
SLC12A5	57468	broad.mit.edu	37	chr20	44673702	44673702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttcttctccacctgtgggGctgggctgcagagcctcacg	4	10	12	15	1	3	1	1	0	2	1	4	1	3	1	4	3	2	3	4	3	0	2			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr20:44673702G>T	ENST00000454036.2	+	12	1610	c.1561G>T	c.(1561-1563)Gct>Tct	p.A521S	SLC12A5_ENST00000243964.3_Missense_Mutation_p.A498S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	521					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			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)	CACCTGTGGGGCTGGGCTGCA	0.617																																						ENST00000454036.1																			0				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						c.(1561-1563)Gct>Tct		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						115	114	114					20																	44673702		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44673702G>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1561G>T	20.37:g.44673702G>T	ENSP00000387694:p.Ala521Ser					SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.A498S	p.A521S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			12	1637	+		Myeloproliferative disorder(115;0.0122)	521					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1561G>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557864	0.86231	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98732	-5.1;-5.1	4.32	3.36	0.38483	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97235	0.9096	L	0.37697	1.125	0.80722	D	1	P;P	0.44044	0.825;0.622	P;B	0.50934	0.654;0.329	D	0.95316	0.8416	10	0.22109	T	0.4	.	12.3679	0.55238	0.0:0.0:0.8302:0.1698	.	521;498	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	S	521;498	ENSP00000387694:A521S;ENSP00000243964:A498S	ENSP00000243964:A498S	A	+	1	0	SLC12A5	44107109	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.257000	0.95545	1.012000	0.39366	0.313000	0.20887	GCT		0.617	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			5	99	1	0	0.217242	1	0.217242	5	99					T	44673702	G	T	44673702	3	4	483	1	0	0	0	0	1	0	0	0	14386	1203	42	5	1663	5	SLC12A5	20	44673702	Missense_Mutation	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08	28318778	44673702	18351818	36	32306											
DDX27	55661	broad.mit.edu	37	chr20	47850217	47850217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccggatccggcctaatcGtgaaggagaccgggaagcca	11	5	13	12	4	0	2	0	1	0	1	3	5	2	4	5	4	1	0	5	4	3	1			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr20:47850217G>A	ENST00000371764.4	+	11	1346	c.1337G>A	c.(1336-1338)cGt>cAt	p.R446H	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	446						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGGCCTAATCGTGAAGGAGAC	0.572																																						ENST00000371764.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(1336-1338)cGt>cAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							72	71	71					20																	47850217		2203	4300	6503	SO:0001583	missense	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47850217G>A	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"DEAD-boxes"	15837	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1337G>A	20.37:g.47850217G>A	ENSP00000360828:p.Arg446His					DDX27_ENST00000484427.1_3'UTR	p.R446H	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		11	1346	+			446					A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	c.1337G>A	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735717	0.69189	.	.	ENSG00000124228	ENST00000371764	T	0.01584	4.75	5.97	5.97	0.96955	.	0.098803	0.64402	D	0.000002	T	0.03390	0.0098	L	0.44542	1.39	0.51482	D	0.999923	P	0.45986	0.87	B	0.43052	0.406	T	0.53012	-0.8498	10	0.56958	D	0.05	-22.1339	17.9218	0.88969	0.0:0.0:1.0:0.0	.	446	Q96GQ7	DDX27_HUMAN	H	446	ENSP00000360828:R446H	ENSP00000360828:R446H	R	+	2	0	DDX27	47283624	1.000000	0.71417	0.998000	0.56505	0.391000	0.30476	6.491000	0.73649	2.837000	0.97791	0.655000	0.94253	CGT		0.572	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			4	62	0	0	0	1	0	4	62					A	47850217	G	A	47850217	3	1	483	1	0	0	0	0	1	0	0	0	4354	1145	40	1	1379	1	DDX27	20	47850217	Missense_Mutation	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08	3176515	47850217	15175303	37	32307											
PCDH11Y	83259	broad.mit.edu	37	chrY	4967265	4967265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaattcagcctggatcGtcgtacaggcatgctgactg	9	10	11	11	2	1	2	1	2	0	0	3	3	1	3	2	2	3	3	2	2	2	2			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chrY:4967265G>A	ENST00000333703.4	+	5	2126	c.1613G>A	c.(1612-1614)cGt>cAt	p.R538H	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.R549H|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.R549H	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	549	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGCCTGGATCGTCGTACAGGC	0.438																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1612-1614)cGt>cAt		protocadherin 11 Y-linked							42	39	40					Y																	4967265		617	1971	2588	SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4967265G>A	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.1613G>A	Y.37:g.4967265G>A	ENSP00000330552:p.Arg538His					PCDH11Y_ENST00000215473.6_Missense_Mutation_p.R549H|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.R549H	p.R538H	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			5	2126	+			549			Cadherin 5.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.1613G>A	CCDS14776.1																																																																																				0.438	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		14	11	0	0	0	1	0	14	11					A	4967265	G	A	4967265	3	1	483	1	0	0	0	0	1	0	0	0	11509	1145	40	1	1688	1	PCDH11Y	24	4967265	Missense_Mutation	SNP	G	TCGA-ZG-A9L4-01A-11D-A41K-08		4967265	54406301	38	32308											
AJAP1	55966	broad.mit.edu	37	chr1	4832550	4832550	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgagacgctgcactcgacGacgggggagtacaaatccac	12	5	13	11	4	0	1	0	1	0	1	2	6	1	2	1	2	2	3	1	2	2	1	rs559785406		TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:4832550G>A	ENST00000378191.4	+	4	1509	c.1128G>A	c.(1126-1128)acG>acA	p.T376T	AJAP1_ENST00000378190.3_Silent_p.T376T	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	376	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		TGCACTCGACGACGGGGGAGT	0.587													G|||	1	0.000199681	0	0	5008	,	,		17784	0		0.001	False		,,,				2504	0					ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(1126-1128)acG>acA		adherens junctions associated protein 1							52	50	51					1																	4832550		2203	4300	6503	SO:0001819	synonymous_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4832550G>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1128G>A	1.37:g.4832550G>A						AJAP1_ENST00000378190.3_Silent_p.T376T	p.T376T	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		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)	4	1509	+	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)	376			Targeting signals.		Q9Y229	Silent	SNP	ENST00000378191.4	37	c.1128G>A	CCDS54.1																																																																																				0.587	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		4	24	0	0	0	1	0	4	24					A	4832550	G	A	4832550	2	1	484	1	0	0	0	0	0	0	0	1	438	1045	37	2		2	AJAP1	1	4832550	Silent	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08		4832550	244418071	1	32309											
CAMTA1	23261	broad.mit.edu	37	chr1	7724954	7724954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcaacgacttcatctccGtggaggggggcagcagcacc	9	7	13	12	2	3	1	2	1	1	0	4	3	3	2	2	4	3	3	2	4	1	1	rs370719100		TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:7724954G>A	ENST00000303635.7	+	9	2554	c.2347G>A	c.(2347-2349)Gtg>Atg	p.V783M	CAMTA1_ENST00000439411.2_Missense_Mutation_p.V783M	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	783					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTTCATCTCCGTGGAGGGGGG	0.637			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(2347-2349)Gtg>Atg		calmodulin binding transcription activator 1		G	MET/VAL	0,4406		0,0,2203	154	177	169		2347	5.2	1	1		169	1,8599	1.2+/-3.3	0,1,4299	no	missense	CAMTA1	NM_015215.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	783/1674	7724954	1,13005	2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724954G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2347G>A	1.37:g.7724954G>A	ENSP00000306522:p.Val783Met					CAMTA1_ENST00000439411.2_Missense_Mutation_p.V783M	p.V783M	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		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)	9	2554	+	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)	783					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.2347G>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	16.86	3.240189	0.58995	0.0	1.16E-4	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.29917	1.56;1.55	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.51466	0.1676	L	0.53249	1.67	0.53005	D	0.99996	D	0.89917	1.0	D	0.80764	0.994	T	0.37934	-0.9684	10	0.30078	T	0.28	-16.798	18.7931	0.91982	0.0:0.0:1.0:0.0	.	783	Q9Y6Y1	CMTA1_HUMAN	M	783	ENSP00000306522:V783M;ENSP00000402561:V783M	ENSP00000306522:V783M	V	+	1	0	CAMTA1	7647541	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.073000	0.93992	2.453000	0.82957	0.549000	0.68633	GTG		0.637	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		17	263	0	0	0	1	0	17	263					A	7724954	G	A	7724954	3	1	484	1	0	0	0	0	1	0	0	0	2613	1145	40	1	2381	1	CAMTA1	1	7724954	Missense_Mutation	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08	2892404	7724954	241525667	2	32310											
EIF4G3	8672	broad.mit.edu	37	chr1	21268268	21268268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggaaggggtgatgggaGctgggatacactccagtttc	8	10	16	7	0	0	1	0	1	0	0	2	4	1	4	1	5	2	2	1	5	2	2			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:21268268G>T	ENST00000264211.8	-	8	1405	c.1211C>A	c.(1210-1212)gCt>gAt	p.A404D	EIF4G3_ENST00000374937.3_Missense_Mutation_p.A410D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A404D|EIF4G3_ENST00000602326.1_Missense_Mutation_p.A410D|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A8D|EIF4G3_ENST00000374927.4_Missense_Mutation_p.A404D|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000356916.3_Missense_Mutation_p.A415D	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	404					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			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)		GGTGATGGGAGCTGGGATACA	0.478																																						ENST00000602326.1																			0				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						c.(1228-1230)gCt>gAt		eukaryotic translation initiation factor 4 gamma, 3							87	84	85					1																	21268268		2203	4300	6503	SO:0001583	missense	8672				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	g.chr1:21268268G>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1211C>A	1.37:g.21268268G>T	ENSP00000264211:p.Ala404Asp					EIF4G3_ENST00000400422.1_Missense_Mutation_p.A404D|EIF4G3_ENST00000374927.4_Missense_Mutation_p.A404D|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A410D|EIF4G3_ENST00000356916.3_Missense_Mutation_p.A415D|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A404D|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A8D	p.A410D	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		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)	12	1812	-		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)	404					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.1229C>A	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790843	0.31685	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000536266;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.89	2.72	0.32119	.	0.929623	0.09356	N	0.813430	T	0.12135	0.0295	N	0.08118	0	0.19575	N	0.999964	P;B;P;B;B;B	0.42203	0.573;0.201;0.773;0.045;0.026;0.026	B;B;B;B;B;B	0.39465	0.3;0.107;0.3;0.063;0.031;0.029	T	0.15178	-1.0446	10	0.19590	T	0.45	0.1365	5.8496	0.18685	0.1775:0.0:0.6758:0.1467	.	404;599;530;8;410;404	B4DXR2;Q59GJ0;B1AN89;F5H564;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	D	404;600;404;410;8;530;404;415	ENSP00000264211:A404D;ENSP00000383274:A404D;ENSP00000364073:A410D;ENSP00000444693:A8D;ENSP00000364062:A404D	ENSP00000264211:A404D	A	-	2	0	EIF4G3	21140855	0.002000	0.14202	0.268000	0.24571	0.732000	0.41865	0.524000	0.22940	0.261000	0.21753	-0.127000	0.14921	GCT		0.478	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		15	59	1	0	1.5739e-10	1	1.66514e-10	15	59					T	21268268	G	T	21268268	3	4	484	1	0	0	0	0	1	0	0	0	5038	971	34	5	3642	5	EIF4G3	1	21268268	Missense_Mutation	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08	13543314	21268268	227982353	3	32311											
ADC	113451	broad.mit.edu	37	chr1	33583687	33583687	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggacccaggcctgccAcatcacctatgccatgtccc	7	8	10	16	0	1	0	1	0	0	0	2	1	2	1	6	3	2	0	6	3	1	2			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:33583687A>C	ENST00000294517.6	+	11	1801	c.1214A>C	c.(1213-1215)cAc>cCc	p.H405P	ADC_ENST00000398167.1_Missense_Mutation_p.H425P|ADC_ENST00000373441.1_Missense_Mutation_p.H425P|ADC_ENST00000373443.3_Missense_Mutation_p.H405P|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		405					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	CAGGCCTGCCACATCACCTAT	0.592																																						ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1213-1215)cAc>cCc		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)						37	44	42					1																	33583687		2203	4298	6501	SO:0001583	missense	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583687A>C																												ENST00000294517.6:c.1214A>C	1.37:g.33583687A>C	ENSP00000294517:p.His405Pro					ADC_ENST00000373443.3_Missense_Mutation_p.H405P|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Missense_Mutation_p.H425P|ADC_ENST00000398167.1_Missense_Mutation_p.H425P	p.H405P	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN			11	1801	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	405					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	c.1214A>C	CCDS375.1	.	.	.	.	.	.	.	.	.	.	A	0.601	-0.829020	0.02734	.	.	ENSG00000142920	ENST00000294517;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	4.92	-0.309	0.12769	Orn/DAP/Arg decarboxylase 2, C-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.969700	0.08417	N	0.948933	T	0.18759	0.0450	N	0.04387	-0.21	0.20307	N	0.999919	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.23226	-1.0194	10	0.27082	T	0.32	-0.3703	6.1425	0.20266	0.3949:0.1253:0.4798:0.0	.	425;310;405	Q96A70-2;D3DPR0;Q96A70	.;.;ADC_HUMAN	P	405;405;425;425	ENSP00000294517:H405P;ENSP00000362542:H405P;ENSP00000381233:H425P;ENSP00000362540:H425P	ENSP00000294517:H405P	H	+	2	0	ADC	33356274	0.000000	0.05858	0.073000	0.20177	0.058000	0.15608	-0.237000	0.08990	-0.008000	0.14320	-0.237000	0.12165	CAC		0.592	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			25	17	0	0	0	1	0	25	17					C	33583687	A	C	33583687	3	2	484	1	0	0	0	0	1	0	0	0	287	159	6	5	1244	5	ADC	1	33583687	Missense_Mutation	SNP	A	TCGA-ZG-A9L5-01A-12D-A41K-08	12315419	33583687	215666934	4	32312											
OR10Z1	128368	broad.mit.edu	37	chr1	158576500	158576500	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctgggggggaccaggCtatctcctatgtgggctgtg	4	10	17	10	0	1	0	0	0	1	0	2	1	1	1	3	6	0	3	3	6	2	2			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:158576500C>A	ENST00000361284.1	+	1	272	c.272C>A	c.(271-273)gCt>gAt	p.A91D		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GGGGACCAGGCTATCTCCTAT	0.537																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(271-273)gCt>gAt		olfactory receptor, family 10, subfamily Z, member 1							182	189	187					1																	158576500		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576500C>A	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.272C>A	1.37:g.158576500C>A	ENSP00000354707:p.Ala91Asp						p.A91D	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	272	+	all_hematologic(112;0.0378)		91					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.272C>A	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	C	4.788	0.146559	0.09134	.	.	ENSG00000198967	ENST00000361284	T	0.00563	6.58	5.36	-0.106	0.13596	GPCR, rhodopsin-like superfamily (1);	0.582670	0.14314	N	0.327482	T	0.00178	0.0005	L	0.50847	1.595	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40021	-0.9585	10	0.48119	T	0.1	.	4.337	0.11090	0.3418:0.2536:0.3349:0.0697	.	91	Q8NGY1	O10Z1_HUMAN	D	91	ENSP00000354707:A91D	ENSP00000354707:A91D	A	+	2	0	OR10Z1	156843124	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-2.394000	0.01054	-0.160000	0.11002	0.655000	0.94253	GCT		0.537	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		41	110	1	0	2.47872e-24	1	2.87217e-24	41	110					A	158576500	C	A	158576500	3	1	484	1	0	0	0	0	1	0	0	0	10923	797	28	5	274	5	OR10Z1	1	158576500	Missense_Mutation	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08	124992813	158576500	90674121	5	32313											
SPTA1	6708	broad.mit.edu	37	chr1	158597474	158597474	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcgggtctcatggacagCaaagtcattttccaaagctt	11	12	8	10	1	2	0	2	0	1	0	5	1	3	1	1	2	3	2	1	2	3	4			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:158597474C>A	ENST00000368147.4	-	40	5785	c.5605G>T	c.(5605-5607)Gct>Tct	p.A1869S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1869					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			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)					TCATGGACAGCAAAGTCATTT	0.403																																						ENST00000368148.3																			0				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						c.(5605-5607)Gct>Tct		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							181	163	169					1																	158597474		1875	4103	5978	SO:0001583	missense	6708				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	g.chr1:158597474C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5605G>T	1.37:g.158597474C>A	ENSP00000357129:p.Ala1869Ser					SPTA1_ENST00000368147.3_Missense_Mutation_p.A1869S|SPTA1_ENST00000461624.1_5'UTR	p.A1869S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			40	5785	-	all_hematologic(112;0.0378)		1869					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5605G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279723	0.40294	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52983	0.64;0.64	5.55	4.64	0.57946	.	0.000000	0.32120	N	0.006555	T	0.20740	0.0499	L	0.58583	1.82	0.32803	D	0.50042	B	0.29115	0.233	B	0.26310	0.068	T	0.09037	-1.0693	10	0.18710	T	0.47	.	7.2528	0.26158	0.0:0.7577:0.0:0.2423	.	1869	P02549	SPTA1_HUMAN	S	1869	ENSP00000357130:A1869S;ENSP00000357129:A1869S	ENSP00000357129:A1869S	A	-	1	0	SPTA1	156864098	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.826000	0.48104	1.586000	0.49944	0.655000	0.94253	GCT		0.403	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		33	92	1	0	2.66277e-13	1	2.99049e-13	33	92					A	158597474	C	A	158597474	3	1	484	1	0	0	0	0	1	0	0	0	15115	710	25	5	1706	5	SPTA1	1	158597474	Missense_Mutation	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08	20974	158597474	90653147	6	32314											
VANGL2	57216	broad.mit.edu	37	chr1	160388965	160388965	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgctgtctttcctcacGcctctggccttcctgctgct	2	14	8	17	1	3	0	1	0	2	0	5	0	5	0	4	1	3	4	4	1	0	2			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:160388965G>A	ENST00000368061.2	+	4	840	c.366G>A	c.(364-366)acG>acA	p.T122T		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	122					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				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)			CTTTCCTCACGCCTCTGGCCT	0.667																																						ENST00000368061.2																			0				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						c.(364-366)acG>acA		VANGL planar cell polarity protein 2							57	57	57					1																	160388965		2203	4300	6503	SO:0001819	synonymous_variant	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160388965G>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.366G>A	1.37:g.160388965G>A							p.T122T	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	840	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		122					D3DVE9|Q5T212	Silent	SNP	ENST00000368061.2	37	c.366G>A	CCDS30915.1																																																																																				0.667	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		18	38	0	0	0	1	0	18	38					A	160388965	G	A	160388965	2	1	484	1	0	0	0	0	0	0	0	1	17117	1074	38	1		1	VANGL2	1	160388965	Silent	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08	1791491	160388965	88861656	7	32315											
METTL13	51603	broad.mit.edu	37	chr1	171761359	171761359	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggactatatcgccagcttGgcaggaggaggagaaggtac	11	7	15	8	1	0	1	0	0	0	1	1	5	0	4	1	6	2	3	1	6	4	4			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:171761359G>A	ENST00000361735.3	+	6	1943	c.1677G>A	c.(1675-1677)ttG>ttA	p.L559L	METTL13_ENST00000362019.3_Silent_p.L473L|METTL13_ENST00000367737.5_Silent_p.L403L|METTL13_ENST00000458517.1_Silent_p.L558L|METTL13_ENST00000466643.1_3'UTR	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	559							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TCGCCAGCTTGGCAGGAGGAG	0.537																																						ENST00000361735.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(1675-1677)ttG>ttA		methyltransferase like 13							114	101	105					1																	171761359		2203	4300	6503	SO:0001819	synonymous_variant	51603						methyltransferase activity|protein binding	g.chr1:171761359G>A	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1677G>A	1.37:g.171761359G>A						METTL13_ENST00000362019.3_Silent_p.L473L|METTL13_ENST00000367737.5_Silent_p.L403L|METTL13_ENST00000458517.1_Silent_p.L558L|METTL13_ENST00000466643.1_3'UTR	p.L559L	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN			6	1943	+			559					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	c.1677G>A	CCDS1299.1																																																																																				0.537	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		30	53	0	0	0	1	0	30	53					A	171761359	G	A	171761359	2	1	484	1	0	0	0	0	0	0	0	1	9497	1339	47	3		3	METTL13	1	171761359	Silent	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08	11372394	171761359	77489262	8	32316											
CFHR5	81494	broad.mit.edu	37	chr1	196963263	196963263	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtagatgctcagccaaaaAaagaaagctacaaagttgga	19	7	9	6	0	1	2	1	0	0	2	1	3	1	3	1	1	4	4	1	1	7	3			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:196963263A>T	ENST00000256785.4	+	4	593	c.484A>T	c.(484-486)Aaa>Taa	p.K162*	CFHR5_ENST00000367414.5_Nonsense_Mutation_p.K186*			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	162	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCAGCCAAAAAAAGAAAGCTA	0.338																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(556-558)Aaa>Taa		complement factor H-related 5							86	98	94					1																	196963263		2203	4300	6503	SO:0001587	stop_gained	81494				complement activation, alternative pathway	extracellular region		g.chr1:196963263A>T	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.484A>T	1.37:g.196963263A>T	ENSP00000256785:p.Lys162*					CFHR5_ENST00000256785.4_Nonsense_Mutation_p.K162*	p.K186*	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			4	612	+			162			Sushi 3.		Q2NKK2	Nonsense_Mutation	SNP	ENST00000256785.4	37	c.556A>T	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.780847	0.31502	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	.	.	.	3.72	-7.15	0.01521	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4244	0.67204	0.2406:0.7594:0.0:0.0	.	.	.	.	X	186;162	.	ENSP00000256785:K162X	K	+	1	0	CFHR5	195229886	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.892000	0.01610	-1.001000	0.03434	0.247000	0.18012	AAA		0.338	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		61	47	0	0	0	1	0	61	47					T	196963263	A	T	196963263	4	4	484	1	0	0	0	0	0	1	0	0	3288	15	1	5	498	5	CFHR5	1	196963263	Nonsense_Mutation	SNP	A	TCGA-ZG-A9L5-01A-12D-A41K-08	25201904	196963263	52287358	9	32317											
CDC42BPA	8476	broad.mit.edu	37	chr1	227203873	227203873	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagaaattaatttatttcTcatttctggatctcgtagca	12	18	5	6	1	3	1	1	0	3	1	5	2	3	2	0	1	1	2	0	1	5	7			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:227203873T>G	ENST00000366769.3	-	33	5951	c.4660A>C	c.(4660-4662)Aga>Cga	p.R1554R	CDC42BPA_ENST00000366764.2_Silent_p.R1526R|CDC42BPA_ENST00000334218.5_Silent_p.R1554R|CDC42BPA_ENST00000366767.3_Silent_p.R1473R|CDC42BPA_ENST00000366766.2_Silent_p.R1589R|CDC42BPA_ENST00000535525.1_Silent_p.R1534R|CDC42BPA_ENST00000366765.3_Silent_p.R1567R	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											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)				AATTTATTTCTCATTTCTGGA	0.343																																						ENST00000366769.3																			0				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						c.(4660-4662)Aga>Cga		CDC42 binding protein kinase alpha (DMPK-like)							132	135	134					1																	227203873		2203	4300	6503	SO:0001819	synonymous_variant	8476				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	g.chr1:227203873T>G	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4660A>C	1.37:g.227203873T>G						CDC42BPA_ENST00000366767.3_Silent_p.R1473R|CDC42BPA_ENST00000366765.3_Silent_p.R1567R|CDC42BPA_ENST00000535525.1_Silent_p.R1534R|CDC42BPA_ENST00000366766.2_Silent_p.R1589R|CDC42BPA_ENST00000366764.2_Silent_p.R1526R|CDC42BPA_ENST00000334218.5_Silent_p.R1554R	p.R1554R	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			33	5951	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1567						Silent	SNP	ENST00000366769.3	37	c.4660A>C	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.370911	0.24771	.	.	ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000429440	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	T	0.73345	0.3575	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72327	-0.4327	4	.	.	.	.	16.3593	0.83251	0.0:0.0:0.0:1.0	.	.	.	.	A	756;882;451	.	.	E	-	2	0	CDC42BPA	225270496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.903000	0.56318	2.267000	0.75376	0.383000	0.25322	GAG		0.343	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		6	87	0	0	0	1	0	6	87					G	227203873	T	G	227203873	2	3	484	1	0	0	0	0	0	0	0	1	3072	1559	54	5		5	CDC42BPA	1	227203873	Silent	SNP	T	TCGA-ZG-A9L5-01A-12D-A41K-08	30240610	227203873	22046748	10	32318											
OBSCN	84033	broad.mit.edu	37	chr1	228437698	228437698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtttgcaaaggagcagctgGcacacaggaaggtgcaggcc	11	6	15	9	0	0	0	0	0	0	0	0	2	0	2	1	5	4	6	1	5	2	1			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:228437698G>A	ENST00000422127.1	+	14	4110	c.4066G>A	c.(4066-4068)Gca>Aca	p.A1356T	OBSCN_ENST00000570156.2_Missense_Mutation_p.A1448T|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1356T|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1356	Ig-like 14.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			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)				GGAGCAGCTGGCACACAGGAA	0.627																																						ENST00000570156.2																			0				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						c.(4342-4344)Gca>Aca		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							67	71	70					1																	228437698		2080	4211	6291	SO:0001583	missense	84033				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	g.chr1:228437698G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4066G>A	1.37:g.228437698G>A	ENSP00000409493:p.Ala1356Thr					OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1356T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1356T	p.A1448T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			15	4416	+		Prostate(94;0.0405)	426			Ig-like 15.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4342G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	9.474	1.096505	0.20552	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.61510	0.5;0.1	5.31	3.09	0.35607	Immunoglobulin-like (1);	0.731801	0.12564	N	0.457894	T	0.45296	0.1335	L	0.42245	1.32	0.20307	N	0.999917	B;B	0.23058	0.045;0.079	B;B	0.25405	0.06;0.015	T	0.30238	-0.9985	10	0.13853	T	0.58	.	7.9113	0.29793	0.1722:0.1974:0.6303:0.0	.	1356;1356	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	1356	ENSP00000284548:A1356T;ENSP00000409493:A1356T	ENSP00000284548:A1356T	A	+	1	0	OBSCN	226504321	0.002000	0.14202	0.021000	0.16686	0.024000	0.10985	0.848000	0.27710	1.229000	0.43630	0.655000	0.94253	GCA		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		24	92	0	0	0	1	0	24	92					A	228437698	G	A	228437698	3	1	484	1	0	0	0	0	1	0	0	0	10812	1203	42	3	4116	3	OBSCN	1	228437698	Missense_Mutation	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08	1233825	228437698	20812923	11	32319											
KMO	8564	broad.mit.edu	37	chr1	241723980	241723980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagctgctgagaaataccCcaatgtgaaaatgcacttta	14	10	7	10	0	1	2	1	2	0	1	1	3	1	2	2	0	4	3	2	0	6	3			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:241723980C>A	ENST00000366559.4	+	6	688	c.377C>A	c.(376-378)cCc>cAc	p.P126H	KMO_ENST00000366557.4_Missense_Mutation_p.P126H|KMO_ENST00000366558.3_Missense_Mutation_p.P126H|KMO_ENST00000484628.1_3'UTR	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GAGAAATACCCCAATGTGAAA	0.383																																						ENST00000366559.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(376-378)cCc>cAc		kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)							96	94	95					1																	241723980		2203	4300	6503	SO:0001583	missense	8564				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	g.chr1:241723980C>A	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.377C>A	1.37:g.241723980C>A	ENSP00000355517:p.Pro126His					KMO_ENST00000366557.4_Missense_Mutation_p.P126H|KMO_ENST00000366558.3_Missense_Mutation_p.P126H|KMO_ENST00000484628.1_3'UTR	p.P126H	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		6	688	+	Ovarian(103;0.103)|all_lung(81;0.23)		126						Missense_Mutation	SNP	ENST00000366559.4	37	c.377C>A	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876456	0.51801	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.54675	0.56;0.56;0.56	5.77	5.77	0.91146	Monooxygenase, FAD-binding (1);	0.290613	0.44688	D	0.000425	T	0.73598	0.3607	M	0.81614	2.55	0.47214	D	0.999359	D;D;D	0.65815	0.995;0.981;0.986	D;D;P	0.65233	0.933;0.909;0.792	T	0.75819	-0.3183	10	0.72032	D	0.01	.	17.8364	0.88699	0.0:1.0:0.0:0.0	.	126;126;126	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	H	126	ENSP00000355517:P126H;ENSP00000355516:P126H;ENSP00000355515:P126H	ENSP00000355515:P126H	P	+	2	0	KMO	239790603	0.999000	0.42202	0.107000	0.21349	0.062000	0.15995	5.446000	0.66600	2.884000	0.98904	0.655000	0.94253	CCC		0.383	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		14	39	1	0	8.60227e-14	1	9.81197e-14	14	39					A	241723980	C	A	241723980	3	1	484	1	0	0	0	0	1	0	0	0	8424	623	22	5	399	5	KMO	1	241723980	Missense_Mutation	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08	13286282	241723980	7526641	12	32320											
TTN	7273	broad.mit.edu	37	chr2	179597209	179597209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattccacccctccagcgaCattgctgactttacatgtgt	8	12	7	14	1	0	1	0	1	0	0	2	2	2	1	4	0	3	2	4	0	1	4			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr2:179597209C>T	ENST00000591111.1	-	54	15852	c.15628G>A	c.(15628-15630)Gtc>Atc	p.V5210I	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V5527I|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V4283I|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12577	Ig-like 32.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			CCTCCAGCGACATTGCTGACT	0.393																																						ENST00000589042.1																			0				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						c.(16579-16581)Gtc>Atc		titin							56	55	55					2																	179597209		1909	4127	6036	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179597209C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15628G>A	2.37:g.179597209C>T	ENSP00000465570:p.Val5210Ile					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V5210I|TTN_ENST00000342992.6_Missense_Mutation_p.V4283I	p.V5527I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		56	16803	-			5210			Ig-like 36.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.16579G>A		.	.	.	.	.	.	.	.	.	.	C	9.793	1.178539	0.21787	.	.	ENSG00000155657	ENST00000342992	T	0.66638	-0.22	6.17	4.39	0.52855	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.46833	0.1413	N	0.11673	0.155	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.40646	-0.9552	9	0.87932	D	0	.	10.1245	0.42641	0.0:0.7994:0.0:0.2005	.	5210	Q8WZ42	TITIN_HUMAN	I	4283	ENSP00000343764:V4283I	ENSP00000343764:V4283I	V	-	1	0	TTN	179305454	0.291000	0.24352	0.040000	0.18447	0.980000	0.70556	1.754000	0.38369	0.949000	0.37715	0.655000	0.94253	GTC		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	20	0	0	0	1	0	15	20					T	179597209	C	T	179597209	3	4	484	1	0	0	0	0	1	0	0	0	16732	478	17	3	88178	3	TTN	2	179597209	Missense_Mutation	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08		179597209	63602164	13	32321											
ANKAR	150709	broad.mit.edu	37	chr2	190541595	190541595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtttagaagctaattatGatcagagttcttcttgtcaa	12	16	7	6	0	5	3	3	1	2	2	5	3	5	3	0	0	1	3	0	0	5	7			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr2:190541595G>T	ENST00000520309.1	+	2	467	c.379G>T	c.(379-381)Gat>Tat	p.D127Y	ANKAR_ENST00000313581.4_Missense_Mutation_p.D127Y|ANKAR_ENST00000438402.2_Missense_Mutation_p.D127Y|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000431575.2_Missense_Mutation_p.D56Y	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	127						integral component of membrane (GO:0016021)				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)			AGCTAATTATGATCAGAGTTC	0.368																																						ENST00000520309.1																			0				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						c.(379-381)Gat>Tat		ankyrin and armadillo repeat containing							96	99	98					2																	190541595		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190541595G>T	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.379G>T	2.37:g.190541595G>T	ENSP00000427882:p.Asp127Tyr					ANKAR_ENST00000431575.2_Missense_Mutation_p.D56Y|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.D127Y|ANKAR_ENST00000438402.2_Missense_Mutation_p.D127Y|ANKAR_ENST00000461516.1_Intron	p.D127Y	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		2	467	+			127					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.379G>T	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261941	0.80358	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575	T;T;T;T	0.62639	0.06;0.06;0.01;0.08	5.81	5.81	0.92471	.	0.000000	0.56097	D	0.000032	T	0.78426	0.4281	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79181	-0.1909	10	0.87932	D	0	-26.7829	18.851	0.92230	0.0:0.0:1.0:0.0	.	127	Q7Z5J8	ANKAR_HUMAN	Y	127;127;127;56	ENSP00000427882:D127Y;ENSP00000313513:D127Y;ENSP00000397243:D127Y;ENSP00000393043:D56Y	ENSP00000313513:D127Y	D	+	1	0	ANKAR	190249840	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.877000	0.69675	2.747000	0.94245	0.650000	0.86243	GAT		0.368	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		50	29	1	0	1.67211e-32	1	1.96877e-32	50	29					T	190541595	G	T	190541595	3	4	484	1	0	0	0	0	1	0	0	0	623	1290	45	5	381	5	ANKAR	2	190541595	Missense_Mutation	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08	10944386	190541595	52657778	14	32322											
SPHKAP	80309	broad.mit.edu	37	chr2	228881480	228881480	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaatcgagagactcctgaaCaagcagagttggcccactgc	12	6	11	12	1	0	3	0	1	0	2	2	5	1	3	2	1	3	3	2	1	3	1			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr2:228881480C>G	ENST00000392056.3	-	7	4136	c.4090G>C	c.(4090-4092)Gtt>Ctt	p.V1364L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V1364L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1364						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			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)		GACTCCTGAACAAGCAGAGTT	0.507																																						ENST00000392056.3																			0				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						c.(4090-4092)Gtt>Ctt		SPHK1 interactor, AKAP domain containing							80	76	78					2																	228881480		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881480C>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4090G>C	2.37:g.228881480C>G	ENSP00000375909:p.Val1364Leu					SPHKAP_ENST00000344657.5_Missense_Mutation_p.V1364L	p.V1364L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4136	-		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)	1364					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4090G>C	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	9.366	1.069316	0.20147	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12569	2.67;2.67	5.4	3.59	0.41128	.	0.249250	0.39146	N	0.001445	T	0.16896	0.0406	M	0.69823	2.125	0.09310	N	1	B;B;B	0.21452	0.018;0.012;0.056	B;B;B	0.23275	0.014;0.006;0.045	T	0.15407	-1.0438	10	0.56958	D	0.05	.	9.4263	0.38581	0.1439:0.7823:0.0:0.0738	.	395;1364;1364	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	L	1364	ENSP00000375909:V1364L;ENSP00000339886:V1364L	ENSP00000339886:V1364L	V	-	1	0	SPHKAP	228589724	0.000000	0.05858	0.005000	0.12908	0.013000	0.08279	0.540000	0.23191	0.829000	0.34733	0.655000	0.94253	GTT		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		44	26	0	0	0	1	0	44	26					G	228881480	C	G	228881480	3	3	484	1	0	0	0	0	1	0	0	0	15047	478	17	5	1036	5	SPHKAP	2	228881480	Missense_Mutation	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08	38339885	228881480	14317893	15	32323											
SLC6A1	6529	broad.mit.edu	37	chr3	11070441	11070441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccccgggctggcgttcctgGcatacccagaggcggtgacc	5	6	15	15	3	0	2	0	1	0	1	1	2	1	2	5	5	1	3	5	5	1	2			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr3:11070441G>A	ENST00000287766.4	+	11	1520	c.1099G>A	c.(1099-1101)Gca>Aca	p.A367T	SLC6A1_ENST00000536032.1_Missense_Mutation_p.A189T	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	367					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	GGCGTTCCTGGCATACCCAGA	0.542																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1099-1101)Gca>Aca		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						49	47	48					3																	11070441		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11070441G>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"Solute carriers"	11042	protein-coding gene	gene with protein product	"GABA transporter 1"	137165	"solute carrier family 6 (neurotransmitter transporter, GABA), member 1"			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1099G>A	3.37:g.11070441G>A	ENSP00000287766:p.Ala367Thr					SLC6A1_ENST00000536032.1_Missense_Mutation_p.A189T	p.A367T	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	11	1520	+		Ovarian(110;0.0392)	367					Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.1099G>A	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	36	5.772061	0.96922	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.73789	-0.78;-0.78	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000004	T	0.80859	0.4704	L	0.54863	1.705	0.80722	D	1	B	0.33413	0.411	P	0.46339	0.513	T	0.80259	-0.1457	10	0.87932	D	0	.	20.0299	0.97533	0.0:0.0:1.0:0.0	.	367	P30531	SC6A1_HUMAN	T	367;189	ENSP00000287766:A367T;ENSP00000445171:A189T	ENSP00000287766:A367T	A	+	1	0	SLC6A1	11045441	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.640000	0.98453	2.748000	0.94277	0.655000	0.94253	GCA		0.542	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		3	34	0	0	0	1	0	3	34					A	11070441	G	A	11070441	3	1	484	1	0	0	0	0	1	0	0	0	14673	1203	42	3	1133	3	SLC6A1	3	11070441	Missense_Mutation	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08		11070441	186951989	16	32324											
RARB	5915	broad.mit.edu	37	chr3	25611284	25611284	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaagaaaaagaaggagActtcgaagcaagaatgcaca	21	3	11	6	1	0	4	0	0	0	4	1	7	0	5	0	2	3	2	0	2	8	1			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr3:25611284A>T	ENST00000404969.1	+	4	505	c.505A>T	c.(505-507)Act>Tct	p.T169S	RARB_ENST00000437042.2_Missense_Mutation_p.T50S|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Missense_Mutation_p.T50S|RARB_ENST00000330688.4_Missense_Mutation_p.T162S			P10826	RARB_HUMAN	retinoic acid receptor, beta	169	Hinge.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AAAGAAGGAGACTTCGAAGCA	0.502																																						ENST00000330688.4																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.(484-486)Act>Tct		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						111	110	110					3																	25611284		2203	4300	6503	SO:0001583	missense	5915				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	g.chr3:25611284A>T	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.505A>T	3.37:g.25611284A>T	ENSP00000385865:p.Thr169Ser					RARB_ENST00000458646.1_Missense_Mutation_p.T50S|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000404969.1_Missense_Mutation_p.T169S|RARB_ENST00000437042.2_Missense_Mutation_p.T50S	p.T162S	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN			4	905	+			169			Hinge.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.484A>T		.	.	.	.	.	.	.	.	.	.	A	9.549	1.115306	0.20795	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	4.57	3.68	0.42216	Nuclear hormone receptor, ligand-binding (2);	0.366971	0.29321	N	0.012496	T	0.15003	0.0362	N	0.08118	0	0.22896	N	0.998595	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.16012	-1.0417	10	0.09590	T	0.72	.	14.0685	0.64847	0.1582:0.8418:0.0:0.0	.	169;162	P10826;F1D8S6	RARB_HUMAN;.	S	169;169;169;50;162;50	ENSP00000373282:T169S;ENSP00000385865:T169S;ENSP00000398840:T50S;ENSP00000332296:T162S;ENSP00000391391:T50S	ENSP00000332296:T162S	T	+	1	0	RARB	25586288	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.642000	0.46596	1.249000	0.43950	-0.396000	0.06452	ACT		0.502	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		22	13	0	0	0	1	0	22	13					T	25611284	A	T	25611284	3	4	484	1	0	0	0	0	1	0	0	0	13053	275	10	5	498	5	RARB	3	25611284	Missense_Mutation	SNP	A	TCGA-ZG-A9L5-01A-12D-A41K-08	14540843	25611284	172411146	17	32325											
BSN	8927	broad.mit.edu	37	chr3	49688434	49688434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgactcctaaagtaaaGagtggggtgaggagggctga	11	7	16	7	1	0	3	0	2	0	1	1	5	1	4	2	4	1	2	2	4	4	2			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr3:49688434G>T	ENST00000296452.4	+	4	2022	c.1908G>T	c.(1906-1908)aaG>aaT	p.K636N		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	636					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			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)		CTAAAGTAAAGAGTGGGGTGA	0.602																																						ENST00000296452.4																			0				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						c.(1906-1908)aaG>aaT		bassoon presynaptic cytomatrix protein							67	77	74					3																	49688434		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49688434G>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.1908G>T	3.37:g.49688434G>T	ENSP00000296452:p.Lys636Asn						p.K636N	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	4	2022	+			636					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.1908G>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756061	0.31137	.	.	ENSG00000164061	ENST00000296452	T	0.20881	2.04	5.02	0.0449	0.14227	.	0.267219	0.38272	N	0.001744	T	0.18257	0.0438	L	0.60455	1.87	0.09310	N	0.999997	B	0.29188	0.236	B	0.28553	0.091	T	0.14200	-1.0481	10	0.38643	T	0.18	.	8.8482	0.35184	0.4998:0.0:0.5002:0.0	.	636	Q9UPA5	BSN_HUMAN	N	636	ENSP00000296452:K636N	ENSP00000296452:K636N	K	+	3	2	BSN	49663438	0.999000	0.42202	0.029000	0.17559	0.814000	0.46013	1.083000	0.30815	-0.210000	0.10140	0.655000	0.94253	AAG		0.602	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		6	46	1	0	0.217242	1	0.220259	6	46					T	49688434	G	T	49688434	3	4	484	1	0	0	0	0	1	0	0	0	1530	933	33	5	1922	5	BSN	3	49688434	Missense_Mutation	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08	24077150	49688434	148333996	18	32326											
ACY1	95	broad.mit.edu	37	chr3	52019884	52019884	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaacattggagtcacgAcccctttgaggccttcaagg	10	8	11	12	1	2	1	2	1	0	0	2	4	2	3	4	4	1	0	4	4	2	3			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr3:52019884A>C	ENST00000404366.2	+	5	427	c.281A>C	c.(280-282)gAc>gCc	p.D94A	ACY1_ENST00000476854.1_Missense_Mutation_p.D94A|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.D195A|ACY1_ENST00000468068.1_3'UTR|ACY1_ENST00000494103.1_Missense_Mutation_p.D94A|ABHD14B_ENST00000483233.1_5'Flank|ACY1_ENST00000458031.2_Missense_Mutation_p.D184A|ACY1_ENST00000476351.1_Missense_Mutation_p.D59A	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	94					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	TGGAGTCACGACCCCTTTGAG	0.557																																						ENST00000458031.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(550-552)gAc>gCc		aminoacylase 1	L-Aspartic Acid(DB00128)						87	67	74					3																	52019884		2203	4300	6503	SO:0001583	missense	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52019884A>C	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.281A>C	3.37:g.52019884A>C	ENSP00000384296:p.Asp94Ala					ACY1_ENST00000476351.1_Missense_Mutation_p.D59A|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.D195A|ACY1_ENST00000468068.1_3'UTR|ACY1_ENST00000476854.1_Missense_Mutation_p.D94A|ACY1_ENST00000494103.1_Missense_Mutation_p.D94A|ACY1_ENST00000404366.2_Missense_Mutation_p.D94A	p.D184A			Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	7	782	+			94					C9J6I6|C9J9D8|C9JWD4	Missense_Mutation	SNP	ENST00000404366.2	37	c.551A>C	CCDS2844.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300445	0.60195	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000476351;ENST00000494103;ENST00000404366;ENST00000469863	D;D;D;D;T;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;2.79;-1.84;-1.84	4.97	3.79	0.43588	.	0.259903	0.37577	N	0.002037	D	0.86368	0.5916	M	0.76002	2.32	0.36436	D	0.865207	B;P;P	0.41524	0.147;0.753;0.695	B;P;B	0.45794	0.059;0.493;0.437	D	0.87381	0.2357	10	0.48119	T	0.1	-4.113	11.431	0.50041	0.5738:0.4262:0.0:0.0	.	94;184;94	B4DPC3;B4DNW0;Q03154	.;.;ACY1_HUMAN	A	184;195;94;94;59;94;94;103	ENSP00000390557:D184A;ENSP00000420487:D195A;ENSP00000419262:D94A;ENSP00000417056:D59A;ENSP00000417618:D94A;ENSP00000384296:D94A;ENSP00000419830:D103A	ENSP00000384296:D94A	D	+	2	0	ACY1;RP11-155D18.11	51994924	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	4.250000	0.58772	0.724000	0.32296	0.456000	0.33151	GAC		0.557	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666		5	15	0	0	0	1	0	5	15					C	52019884	A	C	52019884	3	2	484	1	0	0	0	0	1	0	0	0	226	275	10	5	295	5	ACY1	3	52019884	Missense_Mutation	SNP	A	TCGA-ZG-A9L5-01A-12D-A41K-08	2331450	52019884	146002546	19	32327											
ALAS1	211	broad.mit.edu	37	chr3	52246385	52246385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggggagaagagctcctaCggattgcccccacccctcac	8	5	10	18	2	1	2	1	0	0	2	2	4	2	3	6	3	3	1	6	3	2	2			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr3:52246385C>T	ENST00000394965.2	+	11	2071	c.1711C>T	c.(1711-1713)Cgg>Tgg	p.R571W	ALAS1_ENST00000469224.1_Missense_Mutation_p.R571W|ALAS1_ENST00000484952.1_Missense_Mutation_p.R571W|ALAS1_ENST00000310271.2_Missense_Mutation_p.R571W	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	571					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	AGAGCTCCTACGGATTGCCCC	0.517																																						ENST00000394965.2																			0				endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(1711-1713)Cgg>Tgg		aminolevulinate, delta-, synthase 1	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						251	268	262					3																	52246385		2203	4300	6503	SO:0001583	missense	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52246385C>T	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1711C>T	3.37:g.52246385C>T	ENSP00000378416:p.Arg571Trp					ALAS1_ENST00000484952.1_Missense_Mutation_p.R571W|ALAS1_ENST00000469224.1_Missense_Mutation_p.R571W|ALAS1_ENST00000310271.2_Missense_Mutation_p.R571W	p.R571W	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	11	2071	+			571						Missense_Mutation	SNP	ENST00000394965.2	37	c.1711C>T	CCDS2847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.62|15.62	2.888327|2.888327	0.52014|0.52014	.|.	.|.	ENSG00000023330|ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952|ENST00000459884	D;D;D;D|.	0.98280|.	-4.84;-4.84;-4.84;-4.84|.	5.22|5.22	4.35|4.35	0.52113|0.52113	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.89378|0.89378	0.6698|0.6698	H|H	0.99900|0.99900	4.915|4.915	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.90358|0.90358	0.4371|0.4371	10|5	0.87932|.	D|.	0|.	-14.652|-14.652	8.7424|8.7424	0.34564|0.34564	0.1493:0.7746:0.0:0.0761|0.1493:0.7746:0.0:0.0761	.|.	588;571|.	B4DVA0;P13196|.	.;HEM1_HUMAN|.	W|M	571|71	ENSP00000417719:R571W;ENSP00000378416:R571W;ENSP00000309259:R571W;ENSP00000418779:R571W|.	ENSP00000309259:R571W|.	R|T	+|+	1|2	2|0	ALAS1|ALAS1	52221425|52221425	1.000000|1.000000	0.71417|0.71417	0.322000|0.322000	0.25334|0.25334	0.055000|0.055000	0.15305|0.15305	5.918000|5.918000	0.69996|0.69996	1.197000|1.197000	0.43143|0.43143	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.517	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			46	156	0	0	0	1	0	46	156					T	52246385	C	T	52246385	3	4	484	1	0	0	0	0	1	0	0	0	484	527	19	1	1745	1	ALAS1	3	52246385	Missense_Mutation	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08	226501	52246385	145776045	20	32328											
GAK	2580	broad.mit.edu	37	chr4	845557	845557	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaagctgggtgcgcggacCccccgctcctcccgcgcccc	4	4	11	22	5	0	0	0	0	0	0	2	1	2	1	8	2	2	2	8	2	1	0			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr4:845557C>A	ENST00000314167.4	-	25	3599	c.3489G>T	c.(3487-3489)ggG>ggT	p.G1163G	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Silent_p.G1084G	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1163					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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)		GTGCGCGGACCCCCCGCTCCT	0.597																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(3487-3489)ggG>ggT		cyclin G associated kinase							37	42	40					4																	845557		2203	4293	6496	SO:0001819	synonymous_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:845557C>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3489G>T	4.37:g.845557C>A						GAK_ENST00000511163.1_Silent_p.G1084G|GAK_ENST00000509566.1_5'UTR	p.G1163G	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	25	3599	-			1163					Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	c.3489G>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	c	0.558	-0.846428	0.02671	.	.	ENSG00000178950	ENST00000511980	T	0.21361	2.01	5.21	-7.78	0.01223	.	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32025	-0.9922	7	0.44086	T	0.13	-35.0772	4.6632	0.12652	0.3836:0.4037:0.1284:0.0842	.	.	.	.	V	319	ENSP00000421049:G319V	ENSP00000421049:G319V	G	-	2	0	GAK	835557	0.000000	0.05858	0.016000	0.15963	0.218000	0.24690	-3.558000	0.00431	-2.210000	0.00738	-0.908000	0.02827	GGG		0.597	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		20	28	1	0	2.89027e-11	1	3.1491e-11	20	28					A	845557	C	A	845557	2	1	484	1	0	0	0	0	0	0	0	1	6195	610	22	5		5	GAK	4	845557	Silent	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08		845557	190308719	21	32329											
STOX2	56977	broad.mit.edu	37	chr4	184930876	184930876	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtttcctcctgaagagtgGcccctgcgagacgaggacac	9	7	12	13	2	0	3	0	1	0	2	2	6	2	4	4	2	1	1	4	2	1	1			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr4:184930876G>A	ENST00000308497.4	+	3	2320	c.885G>A	c.(883-885)tgG>tgA	p.W295*	STOX2_ENST00000438269.1_Nonsense_Mutation_p.W295*	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	295					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTGAAGAGTGGCCCCTGCGAG	0.473																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(883-885)tgG>tgA		storkhead box 2							24	24	24					4																	184930876		1916	4134	6050	SO:0001587	stop_gained	56977				embryo development|maternal placenta development			g.chr4:184930876G>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.885G>A	4.37:g.184930876G>A	ENSP00000311257:p.Trp295*					STOX2_ENST00000438269.1_Nonsense_Mutation_p.W295*	p.W295*	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		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)	3	2320	+		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)	295					A6H8U4|Q9NPS8	Nonsense_Mutation	SNP	ENST00000308497.4	37	c.885G>A	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	G	49	15.315958	0.99829	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6784	20.6634	0.99662	0.0:0.0:1.0:0.0	.	.	.	.	X	295	.	ENSP00000311257:W295X	W	+	3	0	STOX2	185167870	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	TGG		0.473	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		4	6	0	0	0	1	0	4	6					A	184930876	G	A	184930876	4	1	484	1	0	0	0	0	0	1	0	0	15319	1212	42	3	895	3	STOX2	4	184930876	Nonsense_Mutation	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08	184085319	184930876	6223400	22	32330											
PIK3R1	5295	broad.mit.edu	37	chr5	67591318	67591319	+	Splice_Site	INS	-	-	A																															caatgaaaacactgaagagtINSaagtagttactaaagatggt																										TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr5:67591318_67591319insA	ENST00000521381.1	+	14	2430		c.e14+2		PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.?(2)|p.Y580fs*1(1)|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)	Isoprenaline(DB01064)	CACTGAAGAGTAAGTAGTTACT	0.356			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		4	Unknown(2)|Whole gene deletion(1)|Deletion - Frameshift(1)	p.?(2)|p.Y580fs*1(1)|p.0?(1)	large_intestine(1)|lung(1)|ovary(1)|central_nervous_system(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						c.e14+2		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001630	splice_region_variant	5295				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	g.chr5:67591318_67591319insA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1814+2->A	5.37:g.67591320_67591320dupA		TCGA GBM(4;<1E-08)				PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site		NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	14	2430	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)						B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Splice_Site	INS	ENST00000521381.1	37		CCDS3993.1																																																																																				0.356	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	Intron	18	27						18	27	---	---	---	---	A	67591319	-	A	67591318	8	5	484	1	0	1	1	0	0	0	1	0	11918	1652	57	0	1996	0	PIK3R1	5	67591318	Splice_Site	INS	-	TCGA-ZG-A9L5-01A-12D-A41K-08		67591318	113323942	23	32331											
PCDHB8	56128	broad.mit.edu	37	chr5	140559154	140559154	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaacacagacaacggccaCctgttcgccctcaggtcgct	10	7	8	16	3	2	1	2	0	0	1	4	1	2	1	3	2	2	2	3	2	2	1			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr5:140559154C>G	ENST00000239444.2	+	1	1784	c.1539C>G	c.(1537-1539)caC>caG	p.H513Q	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	513	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACGGCCACCTGTTCGCCC	0.687																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1537-1539)caC>caG									90	145	126					5																	140559154		2202	4296	6498	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559154C>G	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1539C>G	5.37:g.140559154C>G	ENSP00000239444:p.His513Gln						p.H513Q	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1784	+			513			Cadherin 5.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1539C>G	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.216299	0.00286	.	.	ENSG00000120322	ENST00000239444	T	0.01705	4.68	4.22	-2.7	0.06004	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00875	0.0029	N	0.02985	-0.445	0.09310	N	1	B	0.12630	0.006	B	0.16722	0.016	T	0.48433	-0.9036	9	0.22109	T	0.4	.	8.426	0.32729	0.0:0.2262:0.5916:0.1822	.	513	Q9UN66	PCDB8_HUMAN	Q	513	ENSP00000239444:H513Q	ENSP00000239444:H513Q	H	+	3	2	PCDHB8	140539338	0.000000	0.05858	0.935000	0.37517	0.225000	0.24961	-2.986000	0.00660	-0.363000	0.08101	0.298000	0.19748	CAC		0.687	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		24	82	0	0	0	1	0	24	82					G	140559154	C	G	140559154	3	3	484	1	0	0	0	0	1	0	0	0	11548	506	18	5	1541	5	PCDHB8	5	140559154	Missense_Mutation	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08	72967836	140559154	40356106	24	32332											
APOBEC2	10930	broad.mit.edu	37	chr6	41029171	41029172	+	Frame_Shift_Ins	INS	-	-	G																															gtggttgaagcacagggcaaINSggggggccaagtgcaggcat																										TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr6:41029171_41029172insG	ENST00000244669.2	+	2	280_281	c.236_237insG	c.(235-240)aaggggfs	p.KG79fs		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	79					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCACAGGGCAAGGGGGGCCAAG	0.559																																					Ovarian(118;1320 2185 8096 29684)	ENST00000244669.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10						c.(235-237)aggfs		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2																																				SO:0001589	frameshift_variant	10930				DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding	g.chr6:41029171_41029172insG	AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"Apolipoprotein B mRNA editing enzymes"	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.242dupG	6.37:g.41029177_41029177dupG	ENSP00000244669:p.Lys79fs						p.R79fs	NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN			2	280_281	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		79					B2R899|Q53F28|Q5TGU5|Q5TGU6	Frame_Shift_Ins	INS	ENST00000244669.2	37	c.236_237insG	CCDS4848.1																																																																																				0.559	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1	NM_006789		19	40						19	40	---	---	---	---	G	41029172	-	G	41029171	7	5	484	1	0	1	1	0	0	0	0	0	788	72	3	0	242	0	APOBEC2	6	41029171	Frame_Shift_Ins	INS	-	TCGA-ZG-A9L5-01A-12D-A41K-08		41029171	130085896	25	32333											
ARMC2	84071	broad.mit.edu	37	chr6	109215691	109215691	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccaggggaagagacatgcGagggcctcatcatgccccag	11	4	14	12	1	2	1	2	0	0	1	2	5	2	2	4	3	2	0	4	3	1	0			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr6:109215691G>A	ENST00000392644.4	+	6	861	c.693G>A	c.(691-693)gcG>gcA	p.A231A	ARMC2_ENST00000368972.3_Silent_p.A66A	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	231										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		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)		AGAGACATGCGAGGGCCTCAT	0.483																																						ENST00000392644.4																			0				endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24						c.(691-693)gcG>gcA		armadillo repeat containing 2							110	104	106					6																	109215691		2203	4300	6503	SO:0001819	synonymous_variant	84071						binding	g.chr6:109215691G>A	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"Armadillo repeat containing"	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.693G>A	6.37:g.109215691G>A						ARMC2_ENST00000368972.3_Silent_p.A66A	p.A231A	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	6	861	+		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)	231					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Silent	SNP	ENST00000392644.4	37	c.693G>A	CCDS5069.2																																																																																				0.483	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		21	4	0	0	0	1	0	21	4					A	109215691	G	A	109215691	2	1	484	1	0	0	0	0	0	0	0	1	951	1045	37	2		2	ARMC2	6	109215691	Silent	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08	68186520	109215691	61899376	26	32334											
SLC2A12	154091	broad.mit.edu	37	chr6	134350120	134350120	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaatactagtgttagtccTatcattattcgggtccgcat	12	14	7	8	2	1	0	1	0	0	0	4	0	3	0	2	1	1	2	2	1	7	6			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr6:134350120T>C	ENST00000275230.5	-	2	998	c.843A>G	c.(841-843)atA>atG	p.I281M		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	281					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			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)		GTGTTAGTCCTATCATTATTC	0.378																																					Melanoma(122;1663 1672 14489 35294 41228)	ENST00000275230.5																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(841-843)atA>atG		solute carrier family 2 (facilitated glucose transporter), member 12							86	82	83					6																	134350120		2203	4300	6503	SO:0001583	missense	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134350120T>C	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"Solute carriers"	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.843A>G	6.37:g.134350120T>C	ENSP00000275230:p.Ile281Met						p.I281M	NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	2	998	-	Breast(56;0.214)|Colorectal(23;0.221)		281					B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	c.843A>G	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.280621	0.40294	.	.	ENSG00000146411	ENST00000275230	T	0.74315	-0.83	5.4	2.85	0.33270	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.148770	0.64402	D	0.000009	T	0.65770	0.2723	M	0.64630	1.985	0.36635	D	0.876542	P	0.51537	0.946	P	0.50970	0.655	T	0.67906	-0.5549	10	0.72032	D	0.01	-22.3242	7.8502	0.29451	0.1287:0.0:0.2684:0.6029	.	281	Q8TD20	GTR12_HUMAN	M	281	ENSP00000275230:I281M	ENSP00000275230:I281M	I	-	3	3	SLC2A12	134391813	0.959000	0.32827	0.997000	0.53966	0.840000	0.47671	-0.007000	0.12810	0.301000	0.22738	0.383000	0.25322	ATA		0.378	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			21	42	0	0	0	1	0	21	42					C	134350120	T	C	134350120	3	2	484	1	0	0	0	0	1	0	0	0	14541	1512	53	4	1026	4	SLC2A12	6	134350120	Missense_Mutation	SNP	T	TCGA-ZG-A9L5-01A-12D-A41K-08	25134429	134350120	36764947	27	32335											
KIAA1244	57221	broad.mit.edu	37	chr6	138617968	138617968	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagttaaatccactcaagAccgaaaaagcgccctccacc	16	5	6	14	2	1	2	1	0	0	2	3	3	3	2	5	0	1	1	5	0	6	1			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr6:138617968A>G	ENST00000251691.4	+	21	3690	c.3524A>G	c.(3523-3525)gAc>gGc	p.D1175G		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCCACTCAAGACCGAAAAAGC	0.522																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(3523-3525)gAc>gGc		KIAA1244							140	143	142					6																	138617968		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138617968A>G	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3524A>G	6.37:g.138617968A>G	ENSP00000251691:p.Asp1175Gly						p.D1175G	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	21	3690	+	Breast(32;0.135)		1175						Missense_Mutation	SNP	ENST00000251691.4	37	c.3524A>G	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	A	17.66	3.444841	0.63178	.	.	ENSG00000112379	ENST00000251691	T	0.18810	2.19	5.87	5.87	0.94306	.	0.044813	0.85682	D	0.000000	T	0.10035	0.0246	L	0.44542	1.39	0.53688	D	0.999975	B	0.21071	0.051	B	0.15052	0.012	T	0.07908	-1.0748	10	0.23302	T	0.38	-37.4728	16.2723	0.82628	1.0:0.0:0.0:0.0	.	1175	Q5TH69	BIG3_HUMAN	G	1175	ENSP00000251691:D1175G	ENSP00000251691:D1175G	D	+	2	0	KIAA1244	138659661	1.000000	0.71417	0.989000	0.46669	0.983000	0.72400	7.300000	0.78841	2.239000	0.73571	0.533000	0.62120	GAC		0.522	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		4	89	0	0	0	1	0	4	89					G	138617968	A	G	138617968	3	3	484	1	0	0	0	0	1	0	0	0	8217	275	10	4	3606	4	KIAA1244	6	138617968	Missense_Mutation	SNP	A	TCGA-ZG-A9L5-01A-12D-A41K-08	4267848	138617968	32497099	28	32336											
MTHFD1L	25902	broad.mit.edu	37	chr6	151209057	151209057	+	Frame_Shift_Del	DEL	C	C	-																															gctgctctacaatgcctgttCcagagaaaagggtccatgac																										TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr6:151209057delC	ENST00000367321.3	+	7	994	c.720delC	c.(718-720)ttcfs	p.F240fs	MTHFD1L_ENST00000367307.4_Frame_Shift_Del_p.F240fs	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	240	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		AATGCCTGTTCCAGAGAAAAG	0.428																																						ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(718-720)ttfs		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							107	110	109					6																	151209057		2203	4300	6503	SO:0001589	frameshift_variant	25902				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	g.chr6:151209057delC	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.720delC	6.37:g.151209057delC	ENSP00000356290:p.Phe240fs					MTHFD1L_ENST00000367307.4_Frame_Shift_Del_p.F240fs	p.F240fs	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	7	994	+		Ovarian(120;0.128)	240			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Frame_Shift_Del	DEL	ENST00000367321.3	37	c.720delC	CCDS5228.1																																																																																				0.428	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		31	77						31	77	---	---	---	---	-	151209057	C	-	151209057	7	5	484	1	0	1	0	1	0	0	0	0	9928	854	30	0	746	0	MTHFD1L	6	151209057	Frame_Shift_Del	DEL	C	TCGA-ZG-A9L5-01A-12D-A41K-08	12591089	151209057	19906010	29	32337											
DYNC1I1	1780	broad.mit.edu	37	chr7	95616435	95616435	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atgaacattggtccaagcatCgagtggtcacttgtatggac	11	11	11	8	1	1	1	1	1	0	0	3	3	2	2	1	3	2	2	1	3	3	3			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr7:95616435C>G	ENST00000324972.6	+	9	1055	c.862C>G	c.(862-864)Cga>Gga	p.R288G	DYNC1I1_ENST00000437599.1_Missense_Mutation_p.R268G|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.R271G|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.R251G|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.R251G|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.R271G	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	288					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GTCCAAGCATCGAGTGGTCAC	0.428																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(862-864)Cga>Gga		dynein, cytoplasmic 1, intermediate chain 1							254	246	249					7																	95616435		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95616435C>G	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.862C>G	7.37:g.95616435C>G	ENSP00000320130:p.Arg288Gly					DYNC1I1_ENST00000447467.2_Missense_Mutation_p.R271G|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.R251G|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.R268G|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.R271G|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.R251G	p.R288G	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		9	1055	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		288					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.862C>G	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777452	0.70107	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.05199	3.48;3.48;3.48;3.48;3.48;3.48	3.86	2.98	0.34508	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.068810	0.64402	D	0.000014	T	0.31918	0.0812	M	0.93375	3.41	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.979;1.0	D;D;D;P;D	0.85130	0.994;0.997;0.997;0.9;0.996	T	0.44283	-0.9338	10	0.87932	D	0	-7.5464	12.3518	0.55153	0.0:0.916:0.0:0.084	.	271;268;271;288;251	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	G	271;288;251;268;251;271	ENSP00000392337:R271G;ENSP00000320130:R288G;ENSP00000438377:R251G;ENSP00000398118:R268G;ENSP00000352348:R251G;ENSP00000412444:R271G	ENSP00000320130:R288G	R	+	1	2	DYNC1I1	95454371	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	3.793000	0.55484	1.210000	0.43336	0.563000	0.77884	CGA		0.428	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		8	231	0	0	0	1	0	8	231					G	95616435	C	G	95616435	3	3	484	1	0	0	0	0	1	0	0	0	4842	876	31	5	892	5	DYNC1I1	7	95616435	Missense_Mutation	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08		95616435	63522228	30	32338											
MGAM	8972	broad.mit.edu	37	chr7	141719106	141719106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgtagagggcaaccttgtCaacacaaatgcaggtaagcc	14	7	10	10	0	1	1	1	0	0	1	1	1	1	1	2	2	4	4	2	2	5	3			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr7:141719106C>T	ENST00000549489.2	+	4	530	c.435C>T	c.(433-435)gtC>gtT	p.V145V	MGAM_ENST00000475668.2_Silent_p.V145V	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	145					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCAACCTTGTCAACACAAATG	0.542																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(433-435)gtC>gtT		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						65	68	67					7																	141719106		2069	4217	6286	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141719106C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.435C>T	7.37:g.141719106C>T						MGAM_ENST00000549489.2_Silent_p.V145V	p.V145V			O43451	MGA_HUMAN			4	489	+	Melanoma(164;0.0272)		145					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.435C>T	CCDS47727.1																																																																																				0.542	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			8	26	0	0	0	1	0	8	26					T	141719106	C	T	141719106	2	4	484	1	0	0	0	0	0	0	0	1	9541	813	29	3		3	MGAM	7	141719106	Silent	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08	46102671	141719106	17419557	31	32339											
TAF1L	138474	broad.mit.edu	37	chr9	32632931	32632931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaacgaaaatcagacttaaGcacccaccagtttgaatcca	17	8	5	11	1	1	2	1	1	0	1	2	3	2	2	3	0	2	2	3	0	6	3			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr9:32632931G>C	ENST00000242310.4	-	1	2736	c.2647C>G	c.(2647-2649)Ctt>Gtt	p.L883V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	883					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			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)		TCAGACTTAAGCACCCACCAG	0.463																																						ENST00000242310.4																			0				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						c.(2647-2649)Ctt>Gtt		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							167	161	163					9																	32632931		2203	4300	6503	SO:0001583	missense	138474				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	g.chr9:32632931G>C	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2647C>G	9.37:g.32632931G>C	ENSP00000418379:p.Leu883Val						p.L883V	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2736	-			883					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2647C>G	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693648	0.30052	.	.	ENSG00000122728	ENST00000242310	T	0.16743	2.32	1.04	1.04	0.20106	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.28764	0.0713	M	0.62723	1.935	0.44030	D	0.996757	D	0.65815	0.995	D	0.70016	0.967	T	0.04551	-1.0943	10	0.48119	T	0.1	.	3.4007	0.07323	0.3032:0.0:0.6968:0.0	.	883	Q8IZX4	TAF1L_HUMAN	V	883	ENSP00000418379:L883V	ENSP00000418379:L883V	L	-	1	0	TAF1L	32622931	1.000000	0.71417	0.988000	0.46212	0.883000	0.51084	0.878000	0.28126	0.507000	0.28148	0.195000	0.17529	CTT		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			8	172	0	0	0	1	0	8	172					C	32632931	G	C	32632931	3	2	484	1	0	0	0	0	1	0	0	0	15520	971	34	5	2837	5	TAF1L	9	32632931	Missense_Mutation	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08		32632931	108580500	32	32340											
MELK	9833	broad.mit.edu	37	chr9	36643018	36643018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctcgatgatgattgcGtaacagaactttctgtacat	11	14	7	9	2	2	3	1	2	1	1	3	4	2	3	1	0	4	2	1	0	3	5	rs374744271		TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr9:36643018G>A	ENST00000298048.2	+	11	1043	c.859G>A	c.(859-861)Gta>Ata	p.V287I	MELK_ENST00000538311.1_Missense_Mutation_p.V93I|MELK_ENST00000536987.1_Missense_Mutation_p.V156I|MELK_ENST00000541717.1_Missense_Mutation_p.V287I|MELK_ENST00000545008.1_Missense_Mutation_p.V216I|MELK_ENST00000536860.1_Missense_Mutation_p.V239I|MELK_ENST00000536329.1_Missense_Mutation_p.V216I|MELK_ENST00000543751.1_Missense_Mutation_p.V255I	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	287	UBA-like.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			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)			TGATGATTGCGTAACAGAACT	0.338																																					Ovarian(82;980 1317 7225 14391 18624)	ENST00000543751.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29						c.(763-765)Gta>Ata		maternal embryonic leucine zipper kinase							90	84	86					9																	36643018		2203	4300	6503	SO:0001583	missense	9833					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:36643018G>A	D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.859G>A	9.37:g.36643018G>A	ENSP00000298048:p.Val287Ile					MELK_ENST00000545008.1_Missense_Mutation_p.V216I|MELK_ENST00000538311.1_Missense_Mutation_p.V93I|MELK_ENST00000536329.1_Missense_Mutation_p.V216I|MELK_ENST00000298048.2_Missense_Mutation_p.V287I|MELK_ENST00000536860.1_Missense_Mutation_p.V239I|MELK_ENST00000536987.1_Missense_Mutation_p.V156I|MELK_ENST00000541717.1_Missense_Mutation_p.V287I	p.V255I	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		10	908	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	287			Protein kinase.		A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	c.763G>A	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	G	8.088	0.773782	0.16051	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.24908	1.85;2.08;1.83;1.85;1.85;1.85;1.85;1.85	5.46	-3.5	0.04710	Protein kinase-like domain (1);	0.482604	0.24274	N	0.039965	T	0.11707	0.0285	L	0.27053	0.805	0.27893	N	0.939243	B;B;B;B;B;B;B	0.12013	0.0;0.004;0.0;0.001;0.005;0.002;0.0	B;B;B;B;B;B;B	0.13407	0.002;0.009;0.002;0.003;0.005;0.002;0.001	T	0.37686	-0.9695	10	0.09843	T	0.71	-0.1289	7.6197	0.28179	0.5406:0.0:0.3482:0.1112	.	207;216;239;287;216;255;287	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	I	287;93;156;216;239;216;287;255	ENSP00000298048:V287I;ENSP00000438226:V93I;ENSP00000439184:V156I;ENSP00000445452:V216I;ENSP00000439792:V239I;ENSP00000443550:V216I;ENSP00000437804:V287I;ENSP00000441596:V255I	ENSP00000298048:V287I	V	+	1	0	MELK	36633018	0.001000	0.12720	0.344000	0.25628	0.984000	0.73092	-0.551000	0.06027	-0.836000	0.04229	-0.133000	0.14855	GTA		0.338	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		16	52	0	0	0	1	0	16	52					A	36643018	G	A	36643018	3	1	484	1	0	0	0	0	1	0	0	0	9470	1145	40	1	897	1	MELK	9	36643018	Missense_Mutation	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08	4010087	36643018	104570413	33	32341											
CCBL1	883	broad.mit.edu	37	chr9	131597626	131597626	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttgatcatccacttgacGaagcgtctgtcatagggctc	8	13	9	11	2	4	2	2	2	2	0	6	3	5	2	1	1	1	1	1	1	2	4			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr9:131597626G>A	ENST00000302586.3	-	11	1260	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000436267.2_Silent_p.F460F|CCBL1_ENST00000320665.6_Silent_p.F316F	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	366					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	TCCACTTGACGAAGCGTCTGT	0.597																																						ENST00000436267.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(1378-1380)ttC>ttT		cysteine conjugate-beta lyase, cytoplasmic	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						120	125	123					9																	131597626		2076	4222	6298	SO:0001819	synonymous_variant	883				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	g.chr9:131597626G>A	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"glutamine transaminase K", "kyneurenine aminotransferase"	600547	"cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.1098C>T	9.37:g.131597626G>A						CCBL1_ENST00000302586.3_Silent_p.F366F|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Silent_p.F316F	p.F460F			Q16773	KAT1_HUMAN			13	1529	-			366					Q5T275|Q8N191	Silent	SNP	ENST00000302586.3	37	c.1380C>T	CCDS43884.1																																																																																				0.597	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			24	175	0	0	0	1	0	24	175					A	131597626	G	A	131597626	2	1	484	1	0	0	0	0	0	0	0	1	2732	1049	37	2		2	CCBL1	9	131597626	Silent	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08	94954608	131597626	9615805	34	32342											
DIP2C	22982	broad.mit.edu	37	chr10	373036	373036	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttaaacagctttgagaaCgactgtgtgagtgcgatccg	10	11	11	9	3	0	2	0	2	0	1	2	5	2	2	2	0	4	1	2	0	3	2	rs374923846		TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr10:373036C>T	ENST00000280886.6	-	31	3921	c.3834G>A	c.(3832-3834)tcG>tcA	p.S1278S		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1278						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCTTTGAGAACGACTGTGTGA	0.597																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(3832-3834)tcG>tcA		DIP2 disco-interacting protein 2 homolog C (Drosophila)		C		0,4406		0,0,2203	86	71	77		3834	-11.6	0	10		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DIP2C	NM_014974.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1278/1557	373036	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:373036C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3834G>A	10.37:g.373036C>T							p.S1278S	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	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)	31	3921	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1278					B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	c.3834G>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	7.941	0.742876	0.15642	0.0	1.16E-4	ENSG00000151240	ENST00000434695	.	.	.	5.8	-11.6	0.00059	.	.	.	.	.	T	0.33118	0.0852	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57751	-0.7757	4	.	.	.	-27.1912	2.5564	0.04761	0.3921:0.1628:0.0731:0.372	.	.	.	.	I	84	.	.	V	-	1	0	DIP2C	363036	0.000000	0.05858	0.004000	0.12327	0.839000	0.47603	-2.966000	0.00670	-5.092000	0.00022	-0.225000	0.12378	GTT		0.597	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		3	29	0	0	0	1	0	3	29					T	373036	C	T	373036	2	4	484	1	0	0	0	0	0	0	0	1	4529	523	19	1		1	DIP2C	10	373036	Silent	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08		373036	135161711	35	32343											
PTER	9317	broad.mit.edu	37	chr10	16553115	16553115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacatacatacgaaaaccCggctgatgaaatatggaggt	16	8	10	7	2	0	3	0	3	0	0	0	5	0	4	1	3	3	1	1	3	6	3	rs183203379	byFrequency	TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr10:16553115C>T	ENST00000378000.1	+	6	1156	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	PTER_ENST00000535784.2_Missense_Mutation_p.R304W|PTER_ENST00000298942.3_Missense_Mutation_p.R304W|PTER_ENST00000423462.2_Missense_Mutation_p.R257W	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	304					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						TACGAAAACCCGGCTGATGAA	0.423													C|||	2	0.000399361	8e-04	0	5008	,	,		19704	0.001		0	False		,,,				2504	0				Ovarian(2;46 150 15648 38137 47908)	ENST00000378000.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						c.(910-912)Cgg>Tgg		phosphotriesterase related							130	118	122					10																	16553115		2203	4300	6503	SO:0001583	missense	9317				catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	g.chr10:16553115C>T	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.910C>T	10.37:g.16553115C>T	ENSP00000367239:p.Arg304Trp					PTER_ENST00000423462.2_Missense_Mutation_p.R257W|PTER_ENST00000535784.2_Missense_Mutation_p.R304W|PTER_ENST00000298942.3_Missense_Mutation_p.R304W	p.R304W	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN			6	1156	+			304					B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	ENST00000378000.1	37	c.910C>T	CCDS7111.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.28	2.785289	0.49997	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.49720	0.77;0.91;0.77;0.77	5.56	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79396	-0.1821	10	0.49607	T	0.09	-21.8694	12.9793	0.58554	0.4391:0.5609:0.0:0.0	.	257;304	Q96BW5-2;Q96BW5	.;PTER_HUMAN	W	304;304;257;304;304	ENSP00000439485:R304W;ENSP00000389535:R257W;ENSP00000367239:R304W;ENSP00000298942:R304W	ENSP00000298942:R304W	R	+	1	2	PTER	16593121	0.999000	0.42202	0.993000	0.49108	0.395000	0.30598	1.561000	0.36342	1.443000	0.47586	0.603000	0.83216	CGG		0.423	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		22	20	0	0	0	1	0	22	20					T	16553115	C	T	16553115	3	4	484	1	0	0	0	0	1	0	0	0	12739	643	23	2	924	2	PTER	10	16553115	Missense_Mutation	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08	16180079	16553115	118981632	36	32344											
DDX50	79009	broad.mit.edu	37	chr10	70673848	70673848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcagactttacttttttCtgcaacttgcccacagtggg	7	15	7	12	0	2	1	1	0	1	1	3	1	3	1	2	1	4	1	2	1	2	6			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr10:70673848C>T	ENST00000373585.3	+	7	1084	c.977C>T	c.(976-978)tCt>tTt	p.S326F	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	326	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TTACTTTTTTCTGCAACTTGC	0.348																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(976-978)tCt>tTt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							46	45	45					10																	70673848		2203	4299	6502	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70673848C>T	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.977C>T	10.37:g.70673848C>T	ENSP00000362687:p.Ser326Phe						p.S326F	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			7	1084	+			326			Helicase ATP-binding.		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.977C>T	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291095	0.80914	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.12774	2.65	5.49	5.49	0.81192	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	H	0.99454	4.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79690	-0.1698	10	0.87932	D	0	-9.8392	19.7394	0.96219	0.0:1.0:0.0:0.0	.	326;326	Q9BQ39;B4DED6	DDX50_HUMAN;.	F	326	ENSP00000362687:S326F	ENSP00000362687:S326F	S	+	2	0	DDX50	70343854	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.745000	0.94114	0.462000	0.41574	TCT		0.348	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		6	26	0	0	0	1	0	6	26					T	70673848	C	T	70673848	3	4	484	1	0	0	0	0	1	0	0	0	4368	913	32	3	1003	3	DDX50	10	70673848	Missense_Mutation	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08	54120733	70673848	64860899	37	32345											
OR51E2	81285	broad.mit.edu	37	chr11	4703866	4703866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaaaggagggggaagccaaCccagaaatgggctttctcta	13	6	14	8	0	1	1	0	0	1	1	2	4	1	4	2	5	2	1	2	5	5	2			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:4703866C>T	ENST00000396950.3	-	2	315	c.76G>A	c.(76-78)Gtt>Att	p.V26I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	26					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			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)		GGGAAGCCAACCCAGAAATGG	0.507																																						ENST00000396950.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(76-78)Gtt>Att		olfactory receptor, family 51, subfamily E, member 2							73	72	72					11																	4703866		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703866C>T	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"GPCR / Class A : Olfactory receptors"	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.76G>A	11.37:g.4703866C>T	ENSP00000380153:p.Val26Ile						p.V26I	NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	315	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	26					B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.76G>A	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.406147	0.01155	.	.	ENSG00000167332	ENST00000396950;ENST00000532598	T;T	0.00318	8.12;8.12	5.0	-2.15	0.07102	.	0.296299	0.23585	N	0.046612	T	0.00039	0.0001	N	0.00140	-2.01	0.22771	N	0.998755	B	0.02656	0.0	B	0.01281	0.0	T	0.44314	-0.9336	10	0.02654	T	1	.	4.2383	0.10637	0.6292:0.0801:0.0961:0.1946	.	26	Q9H255	O51E2_HUMAN	I	26	ENSP00000380153:V26I;ENSP00000432644:V26I	ENSP00000380153:V26I	V	-	1	0	OR51E2	4660442	0.412000	0.25392	0.805000	0.32314	0.615000	0.37417	-0.101000	0.10973	-0.179000	0.10654	-1.093000	0.02169	GTT		0.507	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		5	36	0	0	0	1	0	5	36					T	4703866	C	T	4703866	3	4	484	1	0	0	0	0	1	0	0	0	11095	507	18	3	890	3	OR51E2	11	4703866	Missense_Mutation	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08		4703866	130302650	38	32346											
SYT9	143425	broad.mit.edu	37	chr11	7334874	7334874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaagctgtcaatttgcccgCcaaggacttttctgggactt	9	12	9	11	1	2	0	1	0	1	0	2	2	2	2	2	2	2	1	2	2	3	4			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:7334874C>T	ENST00000318881.6	+	3	983	c.746C>T	c.(745-747)gCc>gTc	p.A249V	SYT9_ENST00000396716.2_Missense_Mutation_p.A217V	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	249	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		AATTTGCCCGCCAAGGACTTT	0.408																																						ENST00000318881.6																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(745-747)gCc>gTc		synaptotagmin IX							113	114	113					11																	7334874		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7334874C>T	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.746C>T	11.37:g.7334874C>T	ENSP00000324419:p.Ala249Val					SYT9_ENST00000396716.2_Missense_Mutation_p.A217V	p.A249V	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	983	+			249			C2 1.			Missense_Mutation	SNP	ENST00000318881.6	37	c.746C>T	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360950	0.82353	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.70516	-0.49;-0.49	5.87	4.97	0.65823	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.64402	D	0.000001	T	0.65554	0.2702	L	0.47016	1.485	0.58432	D	0.999999	P	0.38597	0.639	B	0.37601	0.254	T	0.69139	-0.5224	10	0.59425	D	0.04	.	14.708	0.69206	0.1461:0.8539:0.0:0.0	.	249	Q86SS6	SYT9_HUMAN	V	217;249	ENSP00000379944:A217V;ENSP00000324419:A249V	ENSP00000324419:A249V	A	+	2	0	SYT9	7291450	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.053000	0.71089	1.639000	0.50556	-0.127000	0.14921	GCC		0.408	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		18	91	0	0	0	1	0	18	91					T	7334874	C	T	7334874	3	4	484	1	0	0	0	0	1	0	0	0	15478	739	26	3	756	3	SYT9	11	7334874	Missense_Mutation	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08	2631008	7334874	127671642	39	32347											
DGKZ	8525	broad.mit.edu	37	chr11	46397443	46397443	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgcatccaggtgagtcgCgtcagcatgcacgactatga	9	9	12	11	4	1	2	1	2	0	0	3	3	2	2	1	1	3	3	1	1	1	2			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:46397443C>T	ENST00000454345.1	+	22	2642	c.2517C>T	c.(2515-2517)cgC>cgT	p.R839R	DGKZ_ENST00000528615.1_Silent_p.R429R|DGKZ_ENST00000421244.2_Silent_p.R651R|DGKZ_ENST00000318201.8_Silent_p.R628R|DGKZ_ENST00000343674.6_Silent_p.R667R|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Silent_p.R617R|DGKZ_ENST00000532868.2_Silent_p.R655R|DGKZ_ENST00000527911.1_Silent_p.R651R|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000456247.2_Silent_p.R650R	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	839					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			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)		AGGTGAGTCGCGTCAGCATGC	0.692																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(2515-2517)cgC>cgT		diacylglycerol kinase, zeta							22	21	21					11																	46397443		2190	4294	6484	SO:0001819	synonymous_variant	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46397443C>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2517C>T	11.37:g.46397443C>T						DGKZ_ENST00000318201.8_Silent_p.R628R|DGKZ_ENST00000532868.2_Silent_p.R655R|DGKZ_ENST00000395574.3_Silent_p.R617R|DGKZ_ENST00000456247.2_Silent_p.R650R|DGKZ_ENST00000528615.1_Silent_p.R429R|DGKZ_ENST00000527911.1_Silent_p.R651R|DGKZ_ENST00000421244.2_Silent_p.R651R|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000343674.6_Silent_p.R667R	p.R839R	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	22	2642	+			839					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Silent	SNP	ENST00000454345.1	37	c.2517C>T	CCDS41640.1																																																																																				0.692	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		3	3	0	0	0	1	0	3	3					T	46397443	C	T	46397443	2	4	484	1	0	0	0	0	0	0	0	1	4474	755	27	1		1	DGKZ	11	46397443	Silent	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08	39062569	46397443	88609073	40	32348											
OR4C6	219432	broad.mit.edu	37	chr11	55433001	55433001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgatggcctatgaccGctacgtggccatctgtaagc	8	10	11	12	2	1	2	0	2	1	0	1	2	1	2	3	2	2	2	3	2	3	3	rs137985207		TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:55433001G>A	ENST00000314259.3	+	1	388	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GCCTATGACCGCTACGTGGCC	0.552													g|||	1	0.000199681	0	0.0014	5008	,	,		17869	0		0	False		,,,				2504	0					ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(358-360)cGc>cAc		olfactory receptor, family 4, subfamily C, member 6		G	HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	109	99	102		359	3.8	1	11	dbSNP_134	102	23,8569	16.6+/-54.9	0,23,4273	no	missense	OR4C6	NM_001004704.1	29	0,24,6472	AA,AG,GG		0.2677,0.0227,0.1847	probably-damaging	120/310	55433001	24,12968	2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433001G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.359G>A	11.37:g.55433001G>A	ENSP00000324769:p.Arg120His						p.R120H	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	388	+			120					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.359G>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278524	0.59758	2.27E-4	0.002677	ENSG00000181903	ENST00000314259	T	0.77489	-1.1	3.77	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.399974	0.18426	N	0.141590	T	0.80199	0.4579	M	0.86864	2.845	0.32925	D	0.516392	B	0.25272	0.122	B	0.20184	0.028	D	0.84928	0.0858	10	0.59425	D	0.04	.	14.3385	0.66608	0.0:0.0:1.0:0.0	.	120	Q8NH72	OR4C6_HUMAN	H	120	ENSP00000324769:R120H	ENSP00000324769:R120H	R	+	2	0	OR4C6	55189577	0.993000	0.37304	0.999000	0.59377	0.880000	0.50808	5.036000	0.64164	1.693000	0.51124	0.536000	0.68110	CGC		0.552	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		14	57	0	0	0	1	0	14	57					A	55433001	G	A	55433001	3	1	484	1	0	0	0	0	1	0	0	0	11052	1087	38	1	361	1	OR4C6	11	55433001	Missense_Mutation	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08	9035558	55433001	79573515	41	32349											
OR9I1	219954	broad.mit.edu	37	chr11	57886677	57886677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccaatgtggctaggatCtgaggggtgatgactgaggt	8	10	18	5	0	1	4	0	4	1	0	1	5	1	5	1	6	0	1	1	6	2	1			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:57886677C>A	ENST00000302610.1	-	1	239	c.240G>T	c.(238-240)caG>caT	p.Q80H	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TGGCTAGGATCTGAGGGGTGA	0.507																																						ENST00000302610.1																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(238-240)caG>caT		olfactory receptor, family 9, subfamily I, member 1							117	92	101					11																	57886677		2201	4296	6497	SO:0001583	missense	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886677C>A	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"GPCR / Class A : Olfactory receptors"	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.240G>T	11.37:g.57886677C>A	ENSP00000302606:p.Gln80His					OR9Q1_ENST00000335397.3_Intron	p.Q80H	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN			1	239	-		Breast(21;0.0589)	80					Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.240G>T	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838934	0.51057	.	.	ENSG00000172377	ENST00000302610	T	0.00408	7.54	5.06	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000316	T	0.00784	0.0026	M	0.79614	2.46	0.30668	N	0.753644	D	0.63880	0.993	P	0.62813	0.907	T	0.35450	-0.9788	10	0.72032	D	0.01	-13.9185	3.6213	0.08097	0.1731:0.5412:0.0:0.2857	.	80	Q8NGQ6	OR9I1_HUMAN	H	80	ENSP00000302606:Q80H	ENSP00000302606:Q80H	Q	-	3	2	OR9I1	57643253	0.000000	0.05858	1.000000	0.80357	0.915000	0.54546	-0.472000	0.06623	0.784000	0.33661	0.467000	0.42956	CAG		0.507	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		8	24	1	0	1.76689e-08	1	1.81667e-08	8	24					A	57886677	C	A	57886677	3	1	484	1	0	0	0	0	1	0	0	0	11253	912	32	5	708	5	OR9I1	11	57886677	Missense_Mutation	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08	2453676	57886677	77119839	42	32350											
DDB1	1642	broad.mit.edu	37	chr11	61068375	61068375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacctgtggctggttctGtcttccgctcggtgtgaaag	6	13	13	9	2	2	2	0	2	2	0	4	2	3	2	2	3	1	3	2	3	2	2			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:61068375G>T	ENST00000301764.7	-	26	3642	c.3245C>A	c.(3244-3246)aCa>aAa	p.T1082K	DDB1_ENST00000538470.1_Missense_Mutation_p.T129K|DDB1_ENST00000450997.2_Missense_Mutation_p.T393K|DDB1_ENST00000451943.2_Missense_Mutation_p.T69K	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1082	Interaction with CDT1 and CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCTGGTTCTGTCTTCCGCTC	0.517								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3244-3246)aCa>aAa	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							159	137	145					11																	61068375		2203	4299	6502	SO:0001583	missense	1642				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	g.chr11:61068375G>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3245C>A	11.37:g.61068375G>T	ENSP00000301764:p.Thr1082Lys					DDB1_ENST00000451943.2_Missense_Mutation_p.T69K|DDB1_ENST00000450997.2_Missense_Mutation_p.T393K|DDB1_ENST00000538470.1_Missense_Mutation_p.T129K	p.T1082K	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			26	3642	-			1082			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.3245C>A	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.663073	0.29515	.	.	ENSG00000167986	ENST00000301764;ENST00000451943;ENST00000450997;ENST00000538470	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.95	5.95	0.96441	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75273	0.3827	L	0.55103	1.725	0.80722	D	1	B	0.18013	0.025	B	0.16722	0.016	T	0.68390	-0.5421	10	0.18710	T	0.47	-7.2814	20.3931	0.98965	0.0:0.0:1.0:0.0	.	1082	Q16531	DDB1_HUMAN	K	1082;69;393;129	ENSP00000301764:T1082K;ENSP00000399813:T69K;ENSP00000388705:T393K;ENSP00000441522:T129K	ENSP00000301764:T1082K	T	-	2	0	DDB1	60824951	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.334000	0.96470	2.824000	0.97209	0.655000	0.94253	ACA		0.517	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		34	18	1	0	4.11147e-13	1	4.54754e-13	34	18					T	61068375	G	T	61068375	3	4	484	1	0	0	0	0	1	0	0	0	4323	1377	48	5	185	5	DDB1	11	61068375	Missense_Mutation	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08	3181698	61068375	73938141	43	32351											
CDK2AP2	10263	broad.mit.edu	37	chr11	67275498	67275498	+	Frame_Shift_Del	DEL	G	G	-																															ggaccggggtgcccggcccaGgggtgctggagccaggggtg																										TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:67275498delG	ENST00000301488.3	-	1	604	c.56delC	c.(55-57)cctfs	p.P19fs	PITPNM1_ENST00000356404.3_5'Flank|CDK2AP2_ENST00000531506.1_Frame_Shift_Del_p.P19fs|PITPNM1_ENST00000436757.2_5'Flank	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	19										lung(1)	1						GCCCGGCCCAGGGGTGCTGGA	0.711																																						ENST00000301488.3																			0				lung(1)	1						c.(55-57)ctfs		cyclin-dependent kinase 2 associated protein 2							5	6	5					11																	67275498		2010	3967	5977	SO:0001589	frameshift_variant	10263							g.chr11:67275498delG	AF089814	CCDS8169.1	11q13	2010-05-17	2008-11-04		ENSG00000167797	ENSG00000167797			30833	protein-coding gene	gene with protein product	"tumor suppressor deleted in oral cancer related 1"		"CDK2-associated protein 2"			10082655	Standard	NM_005851		Approved	DOC-1R, p14	uc001oma.4	O75956		ENST00000301488.3:c.56delC	11.37:g.67275498delG	ENSP00000301488:p.Pro19fs					CDK2AP2_ENST00000531506.1_Frame_Shift_Del_p.P19fs	p.P19fs	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN			1	604	-			19						Frame_Shift_Del	DEL	ENST00000301488.3	37	c.56delC	CCDS8169.1																																																																																				0.711	CDK2AP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395535.1	NM_005851		2	4						2	4	---	---	---	---	-	67275498	G	-	67275498	7	5	484	1	0	1	0	1	0	0	0	0	3139	1000	35	0	340	0	CDK2AP2	11	67275498	Frame_Shift_Del	DEL	G	TCGA-ZG-A9L5-01A-12D-A41K-08	6207123	67275498	67731018	44	32352											
DYNC2H1	79659	broad.mit.edu	37	chr11	102987372	102987372	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactactcaggatgttgtagAtgatgtgtggagacaaacag	13	10	13	5	0	1	3	1	1	0	2	1	6	1	4	0	2	2	2	0	2	3	3			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:102987372A>G	ENST00000375735.2	+	5	839	c.695A>G	c.(694-696)gAt>gGt	p.D232G	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.D232G|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D232G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	232	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			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)		GATGTTGTAGATGATGTGTGG	0.338																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(694-696)gAt>gGt		dynein, cytoplasmic 2, heavy chain 1							187	186	186					11																	102987372		1901	4123	6024	SO:0001583	missense	79659				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	g.chr11:102987372A>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.695A>G	11.37:g.102987372A>G	ENSP00000364887:p.Asp232Gly					DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D232G|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.D232G	p.D232G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	5	839	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	232			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.695A>G	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.305832	0.81247	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.54675	0.56;0.56;0.56	5.55	5.55	0.83447	Dynein heavy chain, domain-1 (1);	0.000000	0.50627	U	0.000116	T	0.75657	0.3879	M	0.84846	2.72	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.836	D;D;P	0.87578	0.998;0.996;0.609	T	0.79997	-0.1567	10	0.66056	D	0.02	.	15.7067	0.77588	1.0:0.0:0.0:0.0	.	232;232;232	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	G	232	ENSP00000364887:D232G;ENSP00000334021:D232G;ENSP00000381167:D232G	ENSP00000334021:D232G	D	+	2	0	DYNC2H1	102492582	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.962000	0.93254	2.104000	0.64026	0.528000	0.53228	GAT		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		16	77	0	0	0	1	0	16	77					G	102987372	A	G	102987372	3	3	484	1	0	0	0	0	1	0	0	0	4846	333	12	4	713	4	DYNC2H1	11	102987372	Missense_Mutation	SNP	A	TCGA-ZG-A9L5-01A-12D-A41K-08	35711874	102987372	32019144	45	32353											
CUL5	8065	broad.mit.edu	37	chr11	107969215	107969215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaaaggatgagagaagaaGagaatgaaggaatagttcaa	21	5	13	2	0	1	6	1	2	0	4	1	10	1	8	0	2	0	1	0	2	8	2			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:107969215G>C	ENST00000393094.2	+	18	2723	c.2107G>C	c.(2107-2109)Gag>Cag	p.E703Q		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	703					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			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)		GAGAGAAGAAGAGAATGAAGG	0.318																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(2107-2109)Gag>Cag		cullin 5							83	82	82					11																	107969215		2201	4297	6498	SO:0001583	missense	8065				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	g.chr11:107969215G>C	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.2107G>C	11.37:g.107969215G>C	ENSP00000376808:p.Glu703Gln						p.E703Q	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		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)	18	2723	+		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)	703					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.2107G>C	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	G	34	5.327500	0.95733	.	.	ENSG00000166266	ENST00000393094	T	0.70282	-0.47	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79707	0.4492	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	P	0.58130	0.833	T	0.76296	-0.3011	10	0.34782	T	0.22	-14.0357	20.0442	0.97604	0.0:0.0:1.0:0.0	.	703	Q93034	CUL5_HUMAN	Q	703	ENSP00000376808:E703Q	ENSP00000376808:E703Q	E	+	1	0	CUL5	107474425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.378000	0.97191	2.814000	0.96858	0.655000	0.94253	GAG		0.318	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			7	58	0	0	0	1	0	7	58					C	107969215	G	C	107969215	3	2	484	1	0	0	0	0	1	0	0	0	4059	943	33	5	2177	5	CUL5	11	107969215	Missense_Mutation	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08	4981843	107969215	27037301	46	32354											
SNX19	399979	broad.mit.edu	37	chr11	130781573	130781573	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctcctccagacgggtctGcagattcaagaactcccgat	9	11	8	13	2	3	3	1	0	2	3	6	4	5	3	3	1	2	1	3	1	2	2			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:130781573G>A	ENST00000265909.4	-	2	2337	c.1768C>T	c.(1768-1770)Cag>Tag	p.Q590*	SNX19_ENST00000530356.1_5'UTR|SNX19_ENST00000539184.1_Nonsense_Mutation_p.Q33*|SNX19_ENST00000533214.1_Nonsense_Mutation_p.Q590*|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000528555.1_5'UTR|SNX19_ENST00000545537.1_5'Flank	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	590	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AGACGGGTCTGCAGATTCAAG	0.552																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(1768-1770)Cag>Tag		sorting nexin 19							118	112	114					11																	130781573		2201	4297	6498	SO:0001587	stop_gained	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130781573G>A	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1768C>T	11.37:g.130781573G>A	ENSP00000265909:p.Gln590*					SNX19_ENST00000530356.1_5'UTR|SNX19_ENST00000528555.1_5'UTR|SNX19_ENST00000533214.1_Nonsense_Mutation_p.Q590*|SNX19_ENST00000539184.1_Nonsense_Mutation_p.Q33*|SNX19_ENST00000533318.1_5'UTR	p.Q590*	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	2	2337	-	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)	590			PX.		E9PKB9|Q8IV55	Nonsense_Mutation	SNP	ENST00000265909.4	37	c.1768C>T	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	44	10.959921	0.99494	.	.	ENSG00000120451	ENST00000265909;ENST00000539184;ENST00000533214	.	.	.	5.53	5.53	0.82687	.	0.053220	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-18.1669	19.466	0.94939	0.0:0.0:1.0:0.0	.	.	.	.	X	590;33;590	.	ENSP00000265909:Q590X	Q	-	1	0	SNX19	130286783	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.325000	0.96381	2.607000	0.88179	0.655000	0.94253	CAG		0.552	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		29	30	0	0	0	1	0	29	30					A	130781573	G	A	130781573	4	1	484	1	0	0	0	0	0	1	0	0	14890	1328	46	3	1250	3	SNX19	11	130781573	Nonsense_Mutation	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08	22812358	130781573	4224943	47	32355											
DYRK4	8798	broad.mit.edu	37	chr12	4722817	4722817	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caactggtagacgctcccaaGaagtcagaggcagctgtcgg	11	6	13	11	2	1	3	1	0	0	3	3	3	2	3	1	3	2	4	1	3	4	1			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr12:4722817G>A	ENST00000540757.2	+	13	1621	c.1461G>A	c.(1459-1461)aaG>aaA	p.K487K	RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000543431.1_Silent_p.K486K|DYRK4_ENST00000010132.5_Silent_p.K487K|DYRK4_ENST00000545342.1_Silent_p.K124K	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	487						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			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)			ACGCTCCCAAGAAGTCAGAGG	0.537																																						ENST00000540757.2																			0				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						c.(1459-1461)aaG>aaA		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							58	57	58					12																	4722817		2203	4300	6503	SO:0001819	synonymous_variant	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4722817G>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.1461G>A	12.37:g.4722817G>A						DYRK4_ENST00000010132.5_Silent_p.K487K|DYRK4_ENST00000545342.1_Silent_p.K124K|DYRK4_ENST00000543431.1_Silent_p.K486K	p.K487K	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		13	1621	+			487					A8K8F7|Q8NEF2|Q92631	Silent	SNP	ENST00000540757.2	37	c.1461G>A	CCDS8530.1																																																																																				0.537	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			13	38	0	0	0	1	0	13	38					A	4722817	G	A	4722817	2	1	484	1	0	0	0	0	0	0	0	1	4858	933	33	3		3	DYRK4	12	4722817	Silent	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08		4722817	129129078	48	32356											
MLL2	8085	broad.mit.edu	37	chr12	49427951	49427951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagcttttttggcagtgcGctgcttggcacacagagcct	6	11	12	12	1	0	1	0	0	0	1	0	1	0	1	2	2	4	5	2	2	0	4			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr12:49427951G>A	ENST00000301067.7	-	38	10638	c.10639C>T	c.(10639-10641)Cgc>Tgc	p.R3547C	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3547	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TTGGCAGTGCGCTGCTTGGCA	0.542																																						ENST00000301067.7																			0											c.(10639-10641)Cgc>Tgc		lysine (K)-specific methyltransferase 2D							84	83	83					12																	49427951		2031	4202	6233	SO:0001583	missense	8085							g.chr12:49427951G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10639C>T	12.37:g.49427951G>A	ENSP00000301067:p.Arg3547Cys						p.R3547C	NM_003482.3	NP_003473.3					38	10638	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.10639C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231481	0.39399	.	.	ENSG00000167548	ENST00000301067	T	0.44881	0.91	5.38	5.38	0.77491	.	0.000000	0.36893	N	0.002344	T	0.62048	0.2396	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63355	-0.6656	10	0.87932	D	0	.	18.2915	0.90131	0.0:0.0:1.0:0.0	.	3547	O14686	MLL2_HUMAN	C	3547	ENSP00000301067:R3547C	ENSP00000301067:R3547C	R	-	1	0	MLL2	47714218	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.711000	0.92665	0.563000	0.77884	CGC		0.542	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			6	64	0	0	0	1	0	6	64					A	49427951	G	A	49427951	3	1	484	1	0	0	0	0	1	0	0	0	9621	1087	38	1	6042	1	MLL2	12	49427951	Missense_Mutation	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08	44705134	49427951	84423944	49	32357											
PLBD2	196463	broad.mit.edu	37	chr12	113825600	113825600	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgcaaagcctgcaacccCcagcccaatggggagaatgc	11	5	11	14	0	0	1	0	0	0	1	0	2	0	1	4	2	6	2	4	2	4	0			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr12:113825600C>G	ENST00000280800.3	+	11	1522	c.1491C>G	c.(1489-1491)ccC>ccG	p.P497P	PLBD2_ENST00000545182.2_Silent_p.P465P	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	497					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCTGCAACCCCCAGCCCAATG	0.602																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1489-1491)ccC>ccG		phospholipase B domain containing 2							272	264	267					12																	113825600		2203	4300	6503	SO:0001819	synonymous_variant	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113825600C>G	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"PLB homolog 2 (Dictyostelium)", "mannose-6-phosphate protein associated protein p76"					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1491C>G	12.37:g.113825600C>G						PLBD2_ENST00000545182.2_Silent_p.P465P	p.P497P	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			11	1522	+			497					F5H5E2	Silent	SNP	ENST00000280800.3	37	c.1491C>G	CCDS9168.1																																																																																				0.602	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		287	172	0	0	0	1	0	287	172					G	113825600	C	G	113825600	2	3	484	1	0	0	0	0	0	0	0	1	12026	610	22	5		5	PLBD2	12	113825600	Silent	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08	64397649	113825600	20026295	50	32358											
UBL7	84993	broad.mit.edu	37	chr15	74744688	74744689	+	Frame_Shift_Del	DEL	CT	CT	-																															gcagtgtgcaacacccggaaCtctctcatggcagccacttt																										TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr15:74744688_74744689delCT	ENST00000567435.1	-	4	798_799	c.335_336delAG	c.(334-336)gagfs	p.E112fs	UBL7_ENST00000565335.1_Frame_Shift_Del_p.E112fs|UBL7_ENST00000395081.2_Frame_Shift_Del_p.E112fs|UBL7_ENST00000564488.1_Frame_Shift_Del_p.E112fs|UBL7_ENST00000361351.4_Frame_Shift_Del_p.E112fs			Q96S82	UBL7_HUMAN	ubiquitin-like 7	112										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						ACACCCGGAACTCTCTCATGGC	0.579																																						ENST00000567435.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(334-336)gfs		ubiquitin-like 7 (bone marrow stromal cell-derived)																																				SO:0001589	frameshift_variant	84993						protein binding	g.chr15:74744688_74744689delCT	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived ubiquitin-like", " ubiquitin-like protein SB132"	609748	"ubiquitin-like 7 (bone marrow stromal cell-derived)"			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.335_336delAG	15.37:g.74744692_74744693delCT	ENSP00000457703:p.Glu112fs					UBL7_ENST00000565335.1_Frame_Shift_Del_p.E112fs|UBL7_ENST00000361351.4_Frame_Shift_Del_p.E112fs|UBL7_ENST00000395081.2_Frame_Shift_Del_p.E112fs|UBL7_ENST00000564488.1_Frame_Shift_Del_p.E112fs	p.E112fs			Q96S82	UBL7_HUMAN			4	798_799	-			112					D3DW57|Q96I03	Frame_Shift_Del	DEL	ENST00000567435.1	37	c.335_336delAG	CCDS10263.1																																																																																				0.579	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265		2	4						2	4	---	---	---	---	-	74744689	CT	-	74744688	7	5	484	1	0	1	0	1	0	0	0	0	16887	564	20	0	838	0	UBL7	15	74744688	Frame_Shift_Del	DEL	CT	TCGA-ZG-A9L5-01A-12D-A41K-08		74744688	27786704	51	32359											
TFAP4	7023	broad.mit.edu	37	chr16	4310592	4310593	+	Frame_Shift_Ins	INS	-	-	G																															catgtgggcctccagcgagcINSgcacctggaggcaggacaac																										TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr16:4310592_4310593insG	ENST00000204517.6	-	5	857_858	c.529_530insC	c.(529-531)cgcfs	p.R177fs		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	177	Leucine-zipper 2.				cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CTCCAGCGAGCGCACCTGGAGG	0.624																																						ENST00000204517.6																			0				NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(529-531)ctcfs		transcription factor AP-4 (activating enhancer binding protein 4)																																				SO:0001589	frameshift_variant	7023				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	g.chr16:4310592_4310593insG	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"Basic helix-loop-helix proteins"	11745	protein-coding gene	gene with protein product		600743	"transcription factor AP-4 (activating enhancer-binding protein 4)"			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.530dupC	16.37:g.4310593_4310593dupG	ENSP00000204517:p.Arg177fs						p.L177fs	NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN			5	857_858	-			177			Leucine-zipper 2.		O60409	Frame_Shift_Ins	INS	ENST00000204517.6	37	c.529_530insC	CCDS10510.1																																																																																				0.624	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		6	9						6	9	---	---	---	---	G	4310593	-	G	4310592	7	5	484	1	0	1	1	0	0	0	0	0	15789	768	27	0	498	0	TFAP4	16	4310592	Frame_Shift_Ins	INS	-	TCGA-ZG-A9L5-01A-12D-A41K-08		4310592	86044161	52	32360											
HSD17B2	3294	broad.mit.edu	37	chr16	82132014	82132014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccagagctctaagaatGcctaactacaagaaaaaggc	17	6	8	10	0	1	3	0	0	1	3	1	3	1	3	2	1	5	1	2	1	7	3			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr16:82132014G>T	ENST00000199936.4	+	5	1330	c.1137G>T	c.(1135-1137)atG>atT	p.M379I	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	379					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						CTCTAAGAATGCCTAACTACA	0.433																																						ENST00000199936.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(1135-1137)atG>atT		hydroxysteroid (17-beta) dehydrogenase 2	NADH(DB00157)						108	108	108					16																	82132014		2201	4300	6501	SO:0001583	missense	3294				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	g.chr16:82132014G>T		CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5211	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 2"	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.1137G>T	16.37:g.82132014G>T	ENSP00000199936:p.Met379Ile					RP11-510J16.5_ENST00000567021.1_RNA	p.M379I	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN			5	1330	+			379					B2R7T4	Missense_Mutation	SNP	ENST00000199936.4	37	c.1137G>T	CCDS10936.1	.	.	.	.	.	.	.	.	.	.	g	4.671	0.124744	0.08931	.	.	ENSG00000086696	ENST00000199936	D	0.83335	-1.71	5.57	-3.61	0.04556	.	2.493710	0.01262	N	0.009214	T	0.67988	0.2952	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.51092	-0.8749	10	0.46703	T	0.11	.	0.1412	0.00084	0.2757:0.2571:0.2061:0.261	.	379	P37059	DHB2_HUMAN	I	379	ENSP00000199936:M379I	ENSP00000199936:M379I	M	+	3	0	HSD17B2	80689515	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.042000	0.12063	-0.365000	0.08076	-0.181000	0.13052	ATG		0.433	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153		15	80	1	0	5.03518e-11	1	5.40542e-11	15	80					T	82132014	G	T	82132014	3	4	484	1	0	0	0	0	1	0	0	0	7384	1319	46	5	1155	5	HSD17B2	16	82132014	Missense_Mutation	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08	77821422	82132014	8222739	53	32361											
MYH2	4620	broad.mit.edu	37	chr17	10447217	10447217	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgtgacaatcagactcAcctgtattttgccagaagta	12	12	8	9	0	2	4	2	2	0	2	2	4	2	4	2	0	1	2	2	0	4	4			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr17:10447217A>T	ENST00000245503.5	-	7	1033		c.e7+1		MYH2_ENST00000532183.2_Splice_Site|MYH2_ENST00000397183.2_Splice_Site|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.?(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AATCAGACTCACCTGTATTTT	0.478																																						ENST00000245503.5																			1	Unknown(1)	p.?(1)	kidney(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.e7+1		myosin, heavy chain 2, skeletal muscle, adult							91	82	85					17																	10447217		2203	4300	6503	SO:0001630	splice_region_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10447217A>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.648+1T>A	17.37:g.10447217A>T						MYH2_ENST00000532183.1_Splice_Site|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Splice_Site		NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			7	1033	-								A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Splice_Site	SNP	ENST00000245503.5	37		CCDS11156.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.981168	0.34942	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9948	0.47569	0.8441:0.1559:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH2	10387942	0.994000	0.37717	0.973000	0.42090	0.269000	0.26545	3.816000	0.55658	2.119000	0.64992	0.533000	0.62120	.		0.478	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	Intron	4	47	0	0	0	1	0	4	47					T	10447217	A	T	10447217	5	4	484	1	0	0	0	0	0	0	1	0	10035	173	6	5	5311	5	MYH2	17	10447217	Splice_Site	SNP	A	TCGA-ZG-A9L5-01A-12D-A41K-08		10447217	70747993	54	32362											
LPO	4025	broad.mit.edu	37	chr17	56329723	56329723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcctggccagccgcctcCgcaacctcagcagccccctg	7	4	9	21	2	1	0	1	0	0	0	2	0	2	0	8	1	5	2	8	1	2	0			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr17:56329723C>A	ENST00000262290.4	+	8	1277	c.961C>A	c.(961-963)Cgc>Agc	p.R321S	LPO_ENST00000421678.2_Missense_Mutation_p.R238S|LPO_ENST00000582328.1_Missense_Mutation_p.R238S|LPO_ENST00000543544.1_Missense_Mutation_p.R262S	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	321					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.R321C(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CAGCCGCCTCCGCAACCTCAG	0.617																																						ENST00000262290.4																			1	Substitution - Missense(1)	p.R321C(1)	breast(1)	breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(961-963)Cgc>Agc		lactoperoxidase							50	46	47					17																	56329723		2203	4300	6503	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56329723C>A	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.961C>A	17.37:g.56329723C>A	ENSP00000262290:p.Arg321Ser					LPO_ENST00000582328.1_Missense_Mutation_p.R238S|LPO_ENST00000421678.2_Missense_Mutation_p.R238S|LPO_ENST00000543544.1_Missense_Mutation_p.R262S	p.R321S	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			8	1277	+			321					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.961C>A	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965054	0.74131	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	D;D;D	0.88431	-2.38;-2.38;-2.38	5.3	3.15	0.36227	.	0.000000	0.85682	D	0.000000	D	0.96303	0.8794	H	0.98048	4.135	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.83275	0.985;0.996	D	0.97056	0.9767	10	0.87932	D	0	-10.7177	12.8929	0.58082	0.3817:0.6183:0.0:0.0	.	238;321	E7EMJ3;P22079	.;PERL_HUMAN	S	321;238;262;66	ENSP00000262290:R321S;ENSP00000400245:R238S;ENSP00000445344:R262S	ENSP00000262290:R321S	R	+	1	0	LPO	53684722	0.280000	0.24249	0.972000	0.41901	0.983000	0.72400	0.972000	0.29409	1.208000	0.43306	0.655000	0.94253	CGC		0.617	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			5	23	1	0	1	1	1	5	23					A	56329723	C	A	56329723	3	1	484	1	0	0	0	0	1	0	0	0	8922	652	23	5	987	5	LPO	17	56329723	Missense_Mutation	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08	45882506	56329723	24865487	55	32363											
TFPT	29844	broad.mit.edu	37	chr19	54610362	54610362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttattgggcatgcgtcagtCagaggctgggctggccaggg	6	10	17	8	1	2	1	2	0	0	1	2	1	2	1	1	5	1	3	1	5	1	3			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr19:54610362C>T	ENST00000391759.1	-	6	1162	c.757G>A	c.(757-759)Gac>Aac	p.D253N	NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391757.1_3'UTR|TFPT_ENST00000391758.1_Missense_Mutation_p.D244N|NDUFA3_ENST00000485876.1_3'UTR	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	253					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					ATGCGTCAGTCAGAGGCTGGG	0.577			T	TCF3	pre-B ALL																																	ENST00000391759.1				Dom	yes		19	19q13	29844	T	TCF3 (E2A) fusion partner (in childhood Leukemia)			L	TCF3		pre-B ALL		0				large_intestine(2)|lung(2)	4						c.(757-759)Gac>Aac		TCF3 (E2A) fusion partner (in childhood Leukemia)							94	100	98					19																	54610362		2203	4300	6503	SO:0001583	missense	29844				apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	g.chr19:54610362C>T	AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"INO80 complex subunits"	13630	protein-coding gene	gene with protein product	"amida, partner of the E2A", "INO80 complex subunit F"	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.757G>A	19.37:g.54610362C>T	ENSP00000375639:p.Asp253Asn					NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391758.1_Missense_Mutation_p.D244N|NDUFA3_ENST00000485876.1_3'UTR|TFPT_ENST00000391757.1_3'UTR	p.D253N	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN			6	1162	-	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)		253						Missense_Mutation	SNP	ENST00000391759.1	37	c.757G>A	CCDS12878.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644883	0.67358	.	.	ENSG00000105619	ENST00000391759;ENST00000391758	.	.	.	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000003	T	0.35158	0.0922	N	0.08118	0	0.80722	D	1	P	0.37864	0.61	B	0.36504	0.226	T	0.46871	-0.9160	9	0.87932	D	0	-15.1931	15.7095	0.77615	0.0:1.0:0.0:0.0	.	253	P0C1Z6	TFPT_HUMAN	N	253;244	.	ENSP00000375638:D244N	D	-	1	0	TFPT	59302174	1.000000	0.71417	0.955000	0.39395	0.260000	0.26232	3.782000	0.55401	2.387000	0.81309	0.655000	0.94253	GAC		0.577	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342		45	28	0	0	0	1	0	45	28					T	54610362	C	T	54610362	3	4	484	1	0	0	0	0	1	0	0	0	15807	826	29	3	8	3	TFPT	19	54610362	Missense_Mutation	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08		54610362	4518621	56	32364											
E2F1	1869	broad.mit.edu	37	chr20	32265317	32265317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagggtctgcaatgctaCgaaggtcctgacacgtcacg	9	8	12	12	3	2	1	1	1	1	0	3	2	3	1	1	2	4	3	1	2	3	1	rs3213172	byFrequency	TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr20:32265317C>T	ENST00000343380.5	-	5	894	c.755G>A	c.(754-756)cGt>cAt	p.R252H	RP1-63M2.5_ENST00000606866.1_RNA	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	252	Dimerization. {ECO:0000255}.|Required for interaction with TRIM28.		R -> H (in dbSNP:rs3213172). {ECO:0000269|Ref.5}.		anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						TGCAATGCTACGAAGGTCCTG	0.562																																						ENST00000343380.5																			0				NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(754-756)cGt>cAt		E2F transcription factor 1							100	88	92					20																	32265317		2203	4300	6503	SO:0001583	missense	1869				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	g.chr20:32265317C>T		CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.755G>A	20.37:g.32265317C>T	ENSP00000345571:p.Arg252His						p.R252H	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN			5	894	-			252		R -> H (in dbSNP:rs3213172).	Dimerization (Potential).|Required for interaction with TRIM28.		Q13143|Q92768	Missense_Mutation	SNP	ENST00000343380.5	37	c.755G>A	CCDS13224.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362491	0.61403	.	.	ENSG00000101412	ENST00000343380	T	0.52983	0.64	5.02	4.08	0.47627	.	0.126644	0.52532	D	0.000080	T	0.59376	0.2189	L	0.50333	1.59	0.49798	D	0.999825	D	0.76494	0.999	D	0.65443	0.935	T	0.59600	-0.7424	10	0.45353	T	0.12	-3.5155	13.0967	0.59197	0.0:0.9221:0.0:0.0778	rs3213172	252	Q01094	E2F1_HUMAN	H	252	ENSP00000345571:R252H	ENSP00000345571:R252H	R	-	2	0	E2F1	31728978	1.000000	0.71417	0.975000	0.42487	0.951000	0.60555	4.701000	0.61810	1.349000	0.45751	0.462000	0.41574	CGT		0.562	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078731.2			4	37	0	0	0	1	0	4	37					T	32265317	C	T	32265317	3	4	484	1	0	0	0	0	1	0	0	0	4866	536	19	1	570	1	E2F1	20	32265317	Missense_Mutation	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08		32265317	30760203	57	32365											
HUWE1	10075	broad.mit.edu	37	chrX	53621471	53621471	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccttactcaaaaagagcaTtgtggcctccggagcagaga	13	8	10	10	1	1	2	1	0	0	2	3	4	3	3	3	2	3	2	3	2	3	2			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chrX:53621471T>C	ENST00000342160.3	-	30	3948	c.3491A>G	c.(3490-3492)aAt>aGt	p.N1164S	HUWE1_ENST00000262854.6_Missense_Mutation_p.N1164S|HUWE1_ENST00000218328.8_Missense_Mutation_p.N1164S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1164					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			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						AAAAAGAGCATTGTGGCCTCC	0.458																																						ENST00000342160.3																			0				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						c.(3490-3492)aAt>aGt		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							100	83	88					X																	53621471		2203	4300	6503	SO:0001583	missense	10075				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	g.chrX:53621471T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.3491A>G	X.37:g.53621471T>C	ENSP00000340648:p.Asn1164Ser					HUWE1_ENST00000262854.6_Missense_Mutation_p.N1164S|HUWE1_ENST00000218328.8_Missense_Mutation_p.N1164S	p.N1164S			Q7Z6Z7	HUWE1_HUMAN			30	3948	-			1164					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.3491A>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	9.278	1.047511	0.19827	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.41065	1.33;1.33;1.01	5.71	5.71	0.89125	.	0.058907	0.64402	D	0.000002	T	0.19327	0.0464	N	0.03115	-0.41	0.43058	D	0.994677	B	0.26744	0.158	B	0.20767	0.031	T	0.14924	-1.0455	10	0.09338	T	0.73	.	13.8749	0.63647	0.0:0.0:0.0:1.0	.	1164	Q7Z6Z7	HUWE1_HUMAN	S	1164	ENSP00000340648:N1164S;ENSP00000262854:N1164S;ENSP00000218328:N1164S	ENSP00000218328:N1164S	N	-	2	0	HUWE1	53638196	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.730000	0.84881	1.921000	0.55644	0.417000	0.27973	AAT		0.458	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	10	0	0	0	1	0	4	10					C	53621471	T	C	53621471	3	2	484	1	0	0	0	0	1	0	0	0	7461	1493	52	4	9849	4	HUWE1	23	53621471	Missense_Mutation	SNP	T	TCGA-ZG-A9L5-01A-12D-A41K-08		53621471	101649089	58	32366											
EDA	1896	broad.mit.edu	37	chrX	69253376	69253376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttcatctatagtcaggtaGaagtgagtacggtcttaggc	11	12	11	7	1	4	2	2	1	2	1	4	2	4	2	0	3	1	2	0	3	6	6			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chrX:69253376G>A	ENST00000374552.4	+	7	1164	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	EDA_ENST00000524573.1_Intron|EDA_ENST00000374553.2_Intron	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	308					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						TAGTCAGGTAGAAGTGAGTAC	0.532											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374552.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(922-924)Gaa>Aaa		ectodysplasin A							94	67	76					X																	69253376		2203	4300	6503	SO:0001583	missense	1896				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	g.chrX:69253376G>A	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"Tumor necrosis factor (ligand) superfamily"	3157	protein-coding gene	gene with protein product		300451	"ectodermal dysplasia 1, anhidrotic", "oligodontia 1"	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.922G>A	X.37:g.69253376G>A	ENSP00000363680:p.Glu308Lys		OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	EDA_ENST00000524573.1_Intron|EDA_ENST00000374553.2_Intron	p.E308K	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN			7	1164	+			308					A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	ENST00000374552.4	37	c.922G>A	CCDS14394.1	.	.	.	.	.	.	.	.	.	.	G	35	5.449897	0.96205	.	.	ENSG00000158813	ENST00000374552	D	0.94417	-3.42	5.48	5.48	0.80851	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.85682	D	0.000000	D	0.95996	0.8696	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95472	0.8552	9	.	.	.	-12.0889	17.2271	0.86973	0.0:0.0:1.0:0.0	.	308	Q92838	EDA_HUMAN	K	308	ENSP00000363680:E308K	.	E	+	1	0	EDA	69170101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.238000	0.95380	2.279000	0.76181	0.600000	0.82982	GAA		0.532	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		4	35	0	0	0	1	0	4	35					A	69253376	G	A	69253376	3	1	484	1	0	0	0	0	1	0	0	0	4903	943	33	3	1084	3	EDA	23	69253376	Missense_Mutation	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08	15631905	69253376	86017184	59	32367											
SLITRK2	84631	broad.mit.edu	37	chrX	144904183	144904183	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgacaagactgtatccaaaCgaatttgtcaattactccaa	15	12	5	9	1	1	2	1	1	0	1	3	3	3	2	2	0	2	1	2	0	7	4			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chrX:144904183C>T	ENST00000370490.1	+	1	4495	c.240C>T	c.(238-240)aaC>aaT	p.N80N	SLITRK2_ENST00000428560.2_Silent_p.N80N|SLITRK2_ENST00000413937.2_Silent_p.N80N|SLITRK2_ENST00000434188.2_Silent_p.N80N|SLITRK2_ENST00000447897.2_Silent_p.N80N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	80					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGTATCCAAACGAATTTGTCA	0.458																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(238-240)aaC>aaT		SLIT and NTRK-like family, member 2							93	86	89					X																	144904183		2203	4300	6503	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144904183C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.240C>T	X.37:g.144904183C>T						SLITRK2_ENST00000447897.2_Silent_p.N80N|SLITRK2_ENST00000434188.2_Silent_p.N80N|SLITRK2_ENST00000428560.2_Silent_p.N80N|SLITRK2_ENST00000413937.2_Silent_p.N80N	p.N80N			Q9H156	SLIK2_HUMAN			1	4495	+	Acute lymphoblastic leukemia(192;6.56e-05)		80					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.240C>T	CCDS14680.1																																																																																				0.458	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		7	68	0	0	0	1	0	7	68					T	144904183	C	T	144904183	2	4	484	1	0	0	0	0	0	0	0	1	14743	535	19	1		1	SLITRK2	23	144904183	Silent	SNP	C	TCGA-ZG-A9L5-01A-12D-A41K-08	75650807	144904183	10366377	60	32368											
RPS4Y2	140032	broad.mit.edu	37	chrY	22930773	22930773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatgatgctcgaaccattcGctacccagatcctctcatca	10	11	5	15	2	3	2	3	1	1	1	7	3	4	2	3	0	3	2	3	0	2	2			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chrY:22930773G>A	ENST00000288666.5	+	5	443	c.443G>A	c.(442-444)cGc>cAc	p.R148H		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	148					translation (GO:0006412)	ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			lung(2)	2						CGAACCATTCGCTACCCAGAT	0.423																																						ENST00000288666.5																			0				lung(2)	2						c.(442-444)cGc>cAc		ribosomal protein S4, Y-linked 2							145	138	140					Y																	22930773		629	1971	2600	SO:0001583	missense	140032				translation	ribosome	rRNA binding|structural constituent of ribosome	g.chrY:22930773G>A	AF497481	CCDS44028.1	Yq11.223	2006-02-22	2006-02-22	2006-02-22	ENSG00000157828	ENSG00000157828		"S ribosomal proteins"	18501	protein-coding gene	gene with protein product		400030	"ribosomal protein S4, Y-linked 2 pseudogene"	RPS4Y2P		12815422	Standard	NM_001039567		Approved		uc011nbb.2	Q8TD47	OTTHUMG00000036540	ENST00000288666.5:c.443G>A	Y.37:g.22930773G>A	ENSP00000288666:p.Arg148His						p.R148H	NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN			5	443	+			148					A6NIR6	Missense_Mutation	SNP	ENST00000288666.5	37	c.443G>A	CCDS44028.1	.	.	.	.	.	.	.	.	.	.	.	7.770	0.707266	0.15239	.	.	ENSG00000157828	ENST00000288666	D	0.88124	-2.34	1.47	0.544	0.17185	Ribosomal protein S4e, central (2);	0.000000	0.64402	U	0.000002	D	0.83358	0.5237	M	0.91406	3.205	.	.	.	P	0.45240	0.854	B	0.42593	0.392	T	0.80425	-0.1388	7	.	.	.	.	.	.	.	.	148	Q8TD47	RS4Y2_HUMAN	H	148	ENSP00000288666:R148H	.	R	+	2	0	RPS4Y2	21340161	1.000000	0.71417	0.179000	0.23059	0.122000	0.20287	4.818000	0.62657	0.171000	0.19730	0.163000	0.16589	CGC		0.423	RPS4Y2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088873.1			54	7	0	0	0	1	0	54	7					A	22930773	G	A	22930773	3	1	484	1	0	0	0	0	1	0	0	0	13647	1087	38	1	461	1	RPS4Y2	24	22930773	Missense_Mutation	SNP	G	TCGA-ZG-A9L5-01A-12D-A41K-08		22930773	36442793	61	32369											
SLC2A5	6518	broad.mit.edu	37	chr1	9107756	9107756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccattaagatcgcaggcaCgatagaaaatatgttgttga	14	11	9	7	2	0	3	0	1	0	2	2	4	1	3	1	1	0	4	1	1	5	5	rs138176474	byFrequency	TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr1:9107756C>T	ENST00000377424.4	-	4	510	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	SLC2A5_ENST00000536305.1_Missense_Mutation_p.V52M|SLC2A5_ENST00000535586.1_De_novo_Start_InFrame|SLC2A5_ENST00000377414.3_Missense_Mutation_p.V111M	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	111					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			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)		ATCGCAGGCACGATAGAAAAT	0.393																																						ENST00000377424.4																			0				endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36						c.(331-333)Gtg>Atg		solute carrier family 2 (facilitated glucose/fructose transporter), member 5		C	MET/VAL,MET/VAL	2,4404	4.2+/-10.8	0,2,2201	208	193	198		331,331	1.2	1	1	dbSNP_134	198	0,8600		0,0,4300	no	missense,missense	SLC2A5	NM_001135585.1,NM_003039.2	21,21	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	111/245,111/502	9107756	2,13004	2203	4300	6503	SO:0001583	missense	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9107756C>T	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"Solute carriers"	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.331G>A	1.37:g.9107756C>T	ENSP00000366641:p.Val111Met					SLC2A5_ENST00000536305.1_Missense_Mutation_p.V52M|SLC2A5_ENST00000377414.3_Missense_Mutation_p.V111M|SLC2A5_ENST00000535586.1_De_novo_Start_InFrame	p.V111M	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN		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)	4	510	-	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)	111					Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP	ENST00000377424.4	37	c.331G>A	CCDS99.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843706	0.71488	4.54E-4	0.0	ENSG00000142583	ENST00000377424;ENST00000456780;ENST00000536305;ENST00000377414	T;T;T	0.78364	-1.17;-1.17;-1.17	5.28	1.19	0.21007	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.262977	0.37530	N	0.002049	D	0.82986	0.5156	M	0.83118	2.625	0.80722	D	1	D;D;D;D	0.64830	0.986;0.992;0.994;0.973	P;P;P;P	0.59643	0.748;0.861;0.845;0.72	T	0.80732	-0.1251	10	0.62326	D	0.03	.	5.2587	0.15561	0.0:0.5355:0.155:0.3096	.	67;52;111;111	B4DG19;B4DU31;P22732-2;P22732	.;.;.;GTR5_HUMAN	M	111;94;52;111	ENSP00000366641:V111M;ENSP00000440688:V52M;ENSP00000366631:V111M	ENSP00000366631:V111M	V	-	1	0	SLC2A5	9030343	0.026000	0.19158	0.954000	0.39281	0.964000	0.63967	0.489000	0.22387	0.580000	0.29522	0.563000	0.77884	GTG		0.393	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		13	104	0	0	0	1	0	13	104					T	9107756	C	T	9107756	3	4	485	1	0	0	0	0	1	0	0	0	14548	536	19	1	1374	1	SLC2A5	1	9107756	Missense_Mutation	SNP	C	TCGA-ZG-A9L6-01A-11D-A41K-08		9107756	240142865	1	32370											
PAX7	5081	broad.mit.edu	37	chr1	18961619	18961619	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcaggtggcgactccGgatgtagagaaaaagattga	14	7	14	6	2	0	4	0	2	0	2	1	7	1	5	1	3	1	2	1	3	4	2	rs371150760		TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr1:18961619G>T	ENST00000375375.3	+	3	934	c.336G>T	c.(334-336)ccG>ccT	p.P112P	PAX7_ENST00000400661.3_Silent_p.P112P|PAX7_ENST00000420770.2_Silent_p.P112P	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	112	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.|Sufficient to mediate interaction with PAXBP1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TGGCGACTCCGGATGTAGAGA	0.522			T	FOXO1A	alveolar rhabdomyosarcoma																																	ENST00000420770.2				Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31						c.(334-336)ccG>ccT		paired box 7							75	75	75					1																	18961619		2203	4300	6503	SO:0001819	synonymous_variant	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:18961619G>T	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"Paired boxes", "Homeoboxes / PRD class"	8621	protein-coding gene	gene with protein product		167410	"paired box gene 7"			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.336G>T	1.37:g.18961619G>T						PAX7_ENST00000400661.3_Silent_p.P112P|PAX7_ENST00000375375.3_Silent_p.P112P	p.P112P	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN		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)	3	419	+		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)	112			Paired.		E9PFV9|Q0VA99|Q2PJS5	Silent	SNP	ENST00000375375.3	37	c.336G>T	CCDS186.1																																																																																				0.522	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		3	50	1	0	0.00024832	1	0.000266714	3	50					T	18961619	G	T	18961619	2	4	485	1	0	0	0	0	0	0	0	1	11484	1103	39	5		5	PAX7	1	18961619	Silent	SNP	G	TCGA-ZG-A9L6-01A-11D-A41K-08	9853863	18961619	230289002	2	32371											
YARS	8565	broad.mit.edu	37	chr1	33276241	33276241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaacttgagcttctccaaggGcacaccaatgctctccagca	11	8	8	14	0	2	1	0	1	2	0	4	2	2	1	3	1	4	4	3	1	3	2			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr1:33276241G>A	ENST00000373477.4	-	3	1239	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	111					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			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)	TTCTCCAAGGGCACACCAATG	0.473																																						ENST00000373477.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15						c.(331-333)Ccc>Tcc		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						134	113	121					1																	33276241		2203	4300	6503	SO:0001583	missense	8565				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	g.chr1:33276241G>A	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	12840	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 1, cytoplasmic"	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.331C>T	1.37:g.33276241G>A	ENSP00000362576:p.Pro111Ser						p.P111S	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN			3	1239	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	111					B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.331C>T	CCDS368.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128223	0.56721	.	.	ENSG00000134684	ENST00000373477	T	0.70869	-0.52	5.55	3.65	0.41850	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.044833	0.85682	D	0.000000	T	0.65302	0.2678	M	0.64630	1.985	0.80722	D	1	P	0.36144	0.539	B	0.32864	0.154	T	0.68273	-0.5452	10	0.45353	T	0.12	-7.3976	13.1694	0.59589	0.1372:0.0:0.8628:0.0	.	111	P54577	SYYC_HUMAN	S	111	ENSP00000362576:P111S	ENSP00000362576:P111S	P	-	1	0	YARS	33048828	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.384000	0.66225	1.497000	0.48584	0.555000	0.69702	CCC		0.473	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		3	58	0	0	0	1	0	3	58					A	33276241	G	A	33276241	3	1	485	1	0	0	0	0	1	0	0	0	17464	1203	42	3	1299	3	YARS	1	33276241	Missense_Mutation	SNP	G	TCGA-ZG-A9L6-01A-11D-A41K-08	14314622	33276241	215974380	3	32372											
AKR1A1	10327	broad.mit.edu	37	chr1	46032655	46032655	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgacctccagctggagtatCtggacctgtacctgatgcac	8	10	10	13	0	1	2	0	2	1	0	2	4	2	4	4	2	3	4	4	2	2	2			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr1:46032655C>G	ENST00000372070.3	+	5	1066	c.319C>G	c.(319-321)Ctg>Gtg	p.L107V	AKR1A1_ENST00000471651.1_Missense_Mutation_p.L107V|AKR1A1_ENST00000351829.4_Missense_Mutation_p.L107V	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	107					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	GCTGGAGTATCTGGACCTGTA	0.562																																						ENST00000372070.3																			0				lung(3)|prostate(1)|urinary_tract(1)	5						c.(319-321)Ctg>Gtg		aldo-keto reductase family 1, member A1 (aldehyde reductase)							122	104	110					1																	46032655		2203	4300	6503	SO:0001583	missense	10327				glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr1:46032655C>G	J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"Aldo-keto reductases"	380	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 3"	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.319C>G	1.37:g.46032655C>G	ENSP00000361140:p.Leu107Val					AKR1A1_ENST00000351829.4_Missense_Mutation_p.L107V|AKR1A1_ENST00000471651.1_3'UTR	p.L107V	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN			5	1066	+	Acute lymphoblastic leukemia(166;0.155)		107					A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	ENST00000372070.3	37	c.319C>G	CCDS523.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969807	0.53614	.	.	ENSG00000117448	ENST00000372070;ENST00000434299;ENST00000351829	T;T;T	0.31247	1.5;1.5;1.5	6.01	-1.54	0.08584	NADP-dependent oxidoreductase domain (3);	0.068174	0.64402	D	0.000011	T	0.18173	0.0436	N	0.11560	0.145	0.58432	D	0.999998	P	0.48640	0.913	P	0.51453	0.67	T	0.09707	-1.0662	10	0.11794	T	0.64	.	8.8364	0.35115	0.128:0.6629:0.0:0.2091	.	107	P14550	AK1A1_HUMAN	V	107	ENSP00000361140:L107V;ENSP00000398414:L107V;ENSP00000312606:L107V	ENSP00000312606:L107V	L	+	1	2	AKR1A1	45805242	1.000000	0.71417	0.994000	0.49952	0.946000	0.59487	1.334000	0.33827	-0.177000	0.10690	-0.194000	0.12790	CTG		0.562	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1	NM_006066		6	60	0	0	0	1	0	6	60					G	46032655	C	G	46032655	3	3	485	1	0	0	0	0	1	0	0	0	465	912	32	5	329	5	AKR1A1	1	46032655	Missense_Mutation	SNP	C	TCGA-ZG-A9L6-01A-11D-A41K-08	12756414	46032655	203217966	4	32373											
LINGO4	339398	broad.mit.edu	37	chr1	151773576	151773576	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaggaagccgactgccagCaccatggccacacctctgct	9	5	12	15	1	1	0	0	0	1	0	1	3	1	2	5	3	4	2	5	3	1	0			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr1:151773576C>T	ENST00000368820.3	-	2	2542	c.1605G>A	c.(1603-1605)gtG>gtA	p.V535V	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	535						integral component of membrane (GO:0016021)				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)			CGACTGCCAGCACCATGGCCA	0.567																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1603-1605)gtG>gtA		leucine rich repeat and Ig domain containing 4							136	138	137					1																	151773576		2203	4300	6503	SO:0001819	synonymous_variant	339398					integral to membrane		g.chr1:151773576C>T		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"Immunoglobulin superfamily / I-set domain containing"	31814	protein-coding gene	gene with protein product		609794	"leucine rich repeat neuronal 6D"	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1605G>A	1.37:g.151773576C>T							p.V535V	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	2542	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		535						Silent	SNP	ENST00000368820.3	37	c.1605G>A	CCDS30855.1																																																																																				0.567	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		20	121	0	0	0	1	0	20	121					T	151773576	C	T	151773576	2	4	485	1	0	0	0	0	0	0	0	1	8817	697	25	3		3	LINGO4	1	151773576	Silent	SNP	C	TCGA-ZG-A9L6-01A-11D-A41K-08	105740921	151773576	97477045	5	32374											
IGFN1	91156	broad.mit.edu	37	chr1	201185695	201185695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggactgtagagtgctacGtggtggagagacggcaggct	8	7	18	8	3	0	2	0	0	0	2	0	5	0	4	1	5	2	4	1	5	2	2	rs367699515		TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr1:201185695G>A	ENST00000335211.4	+	16	9539	c.9409G>A	c.(9409-9411)Gtg>Atg	p.V3137M	IGFN1_ENST00000295591.8_Missense_Mutation_p.V297M	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	680						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAGTGCTACGTGGTGGAGAG	0.667																																						ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(9409-9411)Gtg>Atg		immunoglobulin-like and fibronectin type III domain containing 1							33	30	31					1																	201185695		2203	4299	6502	SO:0001583	missense	91156							g.chr1:201185695G>A	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9409G>A	1.37:g.201185695G>A	ENSP00000334714:p.Val3137Met					IGFN1_ENST00000295591.8_Missense_Mutation_p.V297M	p.V3137M	NM_001164586.1	NP_001158058.1					16	9539	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.9409G>A	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.574|8.574	0.880629|0.880629	0.17467|0.17467	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211;ENST00000295591	.|T;T	.|0.57595	.|0.39;0.39	4.06|4.06	0.11|0.11	0.14611|0.14611	.|.	.|0.314036	.|0.29348	.|N	.|0.012403	T|T	0.43831|0.43831	0.1265|0.1265	M|M	0.66506|0.66506	2.035|2.035	0.09310|0.09310	N|N	0.999992|0.999992	.|P	.|0.41597	.|0.756	.|B	.|0.39185	.|0.293	T|T	0.38090|0.38090	-0.9677|-0.9677	5|10	.|0.56958	.|D	.|0.05	.|.	4.9265|4.9265	0.13896|0.13896	0.3249:0.2685:0.4066:0.0|0.3249:0.2685:0.4066:0.0	.|.	.|3137	.|F8WAI1	.|.	H|M	554|3137;297	.|ENSP00000334714:V3137M;ENSP00000295591:V297M	.|ENSP00000295591:V297M	R|V	+|+	2|1	0|0	IGFN1|IGFN1	199452318|199452318	0.000000|0.000000	0.05858|0.05858	0.185000|0.185000	0.23176|0.23176	0.003000|0.003000	0.03518|0.03518	-1.320000|-1.320000	0.02700|0.02700	-0.145000|-0.145000	0.11294|0.11294	-0.921000|-0.921000	0.02739|0.02739	CGT|GTG		0.667	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		3	20	0	0	0	1	0	3	20					A	201185695	G	A	201185695	3	1	485	1	0	0	0	0	1	0	0	0	7590	1145	40	1	9467	1	IGFN1	1	201185695	Missense_Mutation	SNP	G	TCGA-ZG-A9L6-01A-11D-A41K-08	49412119	201185695	48064926	6	32375											
CAMK1G	57172	broad.mit.edu	37	chr1	209773408	209773408	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgcatcaagaagtcacCtgccttccgggacagcagcc	11	6	11	13	1	2	1	2	0	0	1	3	3	3	2	4	1	4	2	4	1	3	1			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr1:209773408C>A	ENST00000009105.1	+	3	418	c.173C>A	c.(172-174)cCt>cAt	p.P58H	CAMK1G_ENST00000361322.2_Missense_Mutation_p.P58H			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	58	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AAGAAGTCACCTGCCTTCCGG	0.463																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(172-174)cCt>cAt		calcium/calmodulin-dependent protein kinase IG							129	117	121					1																	209773408		2203	4300	6503	SO:0001583	missense	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209773408C>A		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.173C>A	1.37:g.209773408C>A	ENSP00000009105:p.Pro58His					CAMK1G_ENST00000361322.2_Missense_Mutation_p.P58H	p.P58H			Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	3	418	+			58			Protein kinase.		Q86UH5|Q9Y3J7	Missense_Mutation	SNP	ENST00000009105.1	37	c.173C>A	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588299	0.66105	.	.	ENSG00000008118	ENST00000009105;ENST00000423146;ENST00000361322	T;T;T	0.64618	-0.11;-0.11;-0.11	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000031	T	0.49167	0.1541	N	0.20766	0.605	0.35209	D	0.774991	B;B	0.14438	0.01;0.005	B;B	0.18263	0.021;0.021	T	0.51196	-0.8736	10	0.14656	T	0.56	.	19.4157	0.94697	0.0:1.0:0.0:0.0	.	58;58	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	H	58	ENSP00000009105:P58H;ENSP00000392173:P58H;ENSP00000354861:P58H	ENSP00000009105:P58H	P	+	2	0	CAMK1G	207840031	0.471000	0.25862	0.988000	0.46212	0.981000	0.71138	3.103000	0.50298	2.589000	0.87451	0.563000	0.77884	CCT		0.463	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		8	44	1	0	0.000274275	1	0.000289236	8	44					A	209773408	C	A	209773408	3	1	485	1	0	0	0	0	1	0	0	0	2598	681	24	5	179	5	CAMK1G	1	209773408	Missense_Mutation	SNP	C	TCGA-ZG-A9L6-01A-11D-A41K-08	8587713	209773408	39477213	7	32376											
USH2A	7399	broad.mit.edu	37	chr1	216138762	216138762	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctttccgggatccctgTgttttgacaaacacatttac	8	14	9	10	1	0	1	0	1	0	0	2	2	2	2	2	2	2	2	2	2	2	5			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr1:216138762T>C	ENST00000307340.3	-	37	7403	c.7017A>G	c.(7015-7017)acA>acG	p.T2339T	USH2A_ENST00000366943.2_Silent_p.T2339T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2339	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			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)		GGGATCCCTGTGTTTTGACAA	0.413										HNSCC(13;0.011)																												ENST00000366943.2																			0				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						c.(7015-7017)acA>acG		Usher syndrome 2A (autosomal recessive, mild)							143	143	143					1																	216138762		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216138762T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7017A>G	1.37:g.216138762T>C		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.T2339T	p.T2339T			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	37	7403	-			2339			Fibronectin type-III 10.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.7017A>G	CCDS31025.1																																																																																				0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		14	102	0	0	0	1	0	14	102					C	216138762	T	C	216138762	2	2	485	1	0	0	0	0	0	0	0	1	17033	1683	59	4		4	USH2A	1	216138762	Silent	SNP	T	TCGA-ZG-A9L6-01A-11D-A41K-08	6365354	216138762	33111859	8	32377											
CHRND	1144	broad.mit.edu	37	chr2	233393299	233393299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccacctgccatcttcCgctcctcctgccccatctct	3	11	6	21	1	2	0	0	0	2	0	6	0	5	0	8	1	3	2	8	1	0	1	rs199984639		TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr2:233393299C>T	ENST00000258385.3	+	5	474	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	CHRND_ENST00000543200.1_Missense_Mutation_p.R133C|CHRND_ENST00000457943.2_Silent_p.S57S|CHRND_ENST00000536614.1_Missense_Mutation_p.R148C	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	148					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	TGCCATCTTCCGCTCCTCCTG	0.587																																						ENST00000258385.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(442-444)Cgc>Tgc		cholinergic receptor, nicotinic, delta (muscle)							177	158	164					2																	233393299		2203	4300	6503	SO:0001583	missense	1144				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	g.chr2:233393299C>T	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.442C>T	2.37:g.233393299C>T	ENSP00000258385:p.Arg148Cys					CHRND_ENST00000457943.2_Silent_p.S57S|CHRND_ENST00000543200.1_Missense_Mutation_p.R133C|CHRND_ENST00000536614.1_Missense_Mutation_p.R148C	p.R148C	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	5	474	+		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)	148					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.442C>T	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162336	0.57368	.	.	ENSG00000135902	ENST00000449596;ENST00000543200;ENST00000258385;ENST00000536614	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	4.29	2.43	0.29744	Neurotransmitter-gated ion-channel ligand-binding (3);	0.128965	0.50627	N	0.000104	T	0.81800	0.4899	M	0.90483	3.12	0.80722	D	1	B;B	0.17852	0.024;0.009	B;B	0.17722	0.015;0.019	T	0.78727	-0.2091	10	0.72032	D	0.01	.	8.9496	0.35781	0.1476:0.7738:0.0:0.0786	.	133;148	B4DT92;Q07001	.;ACHD_HUMAN	C	133;133;148;148	ENSP00000404950:R133C;ENSP00000438380:R133C;ENSP00000258385:R148C;ENSP00000437740:R148C	ENSP00000258385:R148C	R	+	1	0	CHRND	233101543	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.917000	0.56424	0.544000	0.28883	0.561000	0.74099	CGC		0.587	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			4	125	0	0	0	1	0	4	125					T	233393299	C	T	233393299	3	4	485	1	0	0	0	0	1	0	0	0	3394	652	23	2	460	2	CHRND	2	233393299	Missense_Mutation	SNP	C	TCGA-ZG-A9L6-01A-11D-A41K-08		233393299	9806074	9	32378											
RHOA	387	broad.mit.edu	37	chr3	49412958	49412958	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttgctgaagactatgAgcaagcatgtctttccacag	10	11	10	10	0	1	3	0	2	1	1	3	3	3	3	2	1	3	3	2	1	3	3			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr3:49412958A>C	ENST00000418115.1	-	2	449	c.65T>G	c.(64-66)cTc>cGc	p.L22R	RHOA_ENST00000422781.1_Missense_Mutation_p.L22R|RHOA_ENST00000454011.2_Missense_Mutation_p.L22R	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	22					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAAGACTATGAGCAAGCATGT	0.473																																						ENST00000418115.1																			0				cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(64-66)cTc>cGc		ras homolog family member A	Atorvastatin(DB01076)|Simvastatin(DB00641)						147	133	138					3																	49412958		2203	4300	6503	SO:0001583	missense	387				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	g.chr3:49412958A>C	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.65T>G	3.37:g.49412958A>C	ENSP00000400175:p.Leu22Arg					RHOA_ENST00000454011.2_Missense_Mutation_p.L22R|RHOA_ENST00000422781.1_Missense_Mutation_p.L22R	p.L22R	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	2	449	-			22					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.65T>G	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.860276	0.91433	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.92880	0.7735	H	0.96748	3.875	0.80722	D	1	P	0.42248	0.774	P	0.60345	0.873	D	0.94522	0.7728	10	0.87932	D	0	.	15.1943	0.73075	1.0:0.0:0.0:0.0	.	22	P61586	RHOA_HUMAN	R	22	ENSP00000400175:L22R;ENSP00000394483:L22R;ENSP00000413587:L22R;ENSP00000408402:L22R;ENSP00000400747:L22R	ENSP00000400175:L22R	L	-	2	0	RHOA	49387962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.178000	0.94855	2.266000	0.75297	0.456000	0.33151	CTC		0.473	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		17	90	0	0	0	1	0	17	90					C	49412958	A	C	49412958	3	2	485	1	0	0	0	0	1	0	0	0	13331	304	11	5	532	5	RHOA	3	49412958	Missense_Mutation	SNP	A	TCGA-ZG-A9L6-01A-11D-A41K-08		49412958	148609472	10	32379											
CWH43	80157	broad.mit.edu	37	chr4	49005949	49005949	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttttctgtgcctggtgcAcagcttttaagtttgtccca	6	18	8	9	0	1	0	0	0	1	0	2	0	2	0	2	1	3	3	2	1	2	6			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr4:49005949A>G	ENST00000226432.4	+	7	1183	c.1000A>G	c.(1000-1002)Aca>Gca	p.T334A	CWH43_ENST00000513409.1_Missense_Mutation_p.T307A	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	334					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TGCCTGGTGCACAGCTTTTAA	0.398																																						ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1000-1002)Aca>Gca		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							62	59	60					4																	49005949		2203	4300	6503	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49005949A>G		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1000A>G	4.37:g.49005949A>G	ENSP00000226432:p.Thr334Ala					CWH43_ENST00000513409.1_Missense_Mutation_p.T307A	p.T334A	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN			7	1183	+			334					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.1000A>G	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735910	0.69189	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.43294	1.53;0.95	4.72	4.72	0.59763	.	0.000000	0.56097	D	0.000023	T	0.54319	0.1851	M	0.67953	2.075	0.40610	D	0.981665	D	0.59767	0.986	P	0.55391	0.775	T	0.57682	-0.7769	9	.	.	.	.	13.2342	0.59961	1.0:0.0:0.0:0.0	.	334	Q9H720	PG2IP_HUMAN	A	334;307	ENSP00000226432:T334A;ENSP00000422802:T307A	.	T	+	1	0	CWH43	48700706	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	5.515000	0.67049	2.125000	0.65367	0.533000	0.62120	ACA		0.398	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		5	34	0	0	0	1	0	5	34					G	49005949	A	G	49005949	3	3	485	1	0	0	0	0	1	0	0	0	4073	159	6	4	1026	4	CWH43	4	49005949	Missense_Mutation	SNP	A	TCGA-ZG-A9L6-01A-11D-A41K-08		49005949	142148327	11	32380											
ENPEP	2028	broad.mit.edu	37	chr4	111397722	111397722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcggggacggcgggcCgggcactgcgccagctcctt	4	5	16	16	5	0	0	0	0	0	0	2	1	2	1	4	5	3	2	4	5	0	1	rs199759636		TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr4:111397722C>T	ENST00000265162.5	+	1	494	c.152C>T	c.(151-153)cCg>cTg	p.P51L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	51					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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)		GACGGCGGGCCGGGCACTGCG	0.647													C|||	1	0.000199681	0	0	5008	,	,		14464	0		0	False		,,,				2504	0.001					ENST00000265162.5																			0				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						c.(151-153)cCg>cTg		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						134	131	132					4																	111397722		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397722C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.152C>T	4.37:g.111397722C>T	ENSP00000265162:p.Pro51Leu						p.P51L	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	494	+		Hepatocellular(203;0.217)	51					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.152C>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	9.046	0.990802	0.18966	.	.	ENSG00000138792	ENST00000265162	T	0.01304	5.03	4.8	-1.22	0.09494	.	1.690290	0.03521	N	0.221057	T	0.01353	0.0044	N	0.12182	0.205	0.09310	N	0.999999	B	0.13145	0.007	B	0.09377	0.004	T	0.50197	-0.8856	10	0.20046	T	0.44	.	13.9422	0.64062	0.4785:0.5215:0.0:0.0	.	51	Q07075	AMPE_HUMAN	L	51	ENSP00000265162:P51L	ENSP00000265162:P51L	P	+	2	0	ENPEP	111617171	.	.	0.001000	0.08648	0.007000	0.05969	.	.	-0.457000	0.07033	0.313000	0.20887	CCG		0.647	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			8	72	0	0	0	1	0	8	72					T	111397722	C	T	111397722	3	4	485	1	0	0	0	0	1	0	0	0	5128	652	23	2	154	2	ENPEP	4	111397722	Missense_Mutation	SNP	C	TCGA-ZG-A9L6-01A-11D-A41K-08	62391773	111397722	79756554	12	32381											
PCDHA9	9752	broad.mit.edu	37	chr5	140229383	140229383	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacgggggctcgccttcaCtgtgggccacggccagggtg	4	6	19	12	3	1	0	1	0	0	0	2	1	1	1	3	6	0	1	3	6	0	1			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr5:140229383C>G	ENST00000532602.1	+	1	2336	c.1303C>G	c.(1303-1305)Ctg>Gtg	p.L435V	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.L435V|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	435	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCCTTCACTGTGGGCCAC	0.622																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1303-1305)Ctg>Gtg									81	78	79					5																	140229383		2196	4269	6465	SO:0001583	missense	0							g.chr5:140229383C>G	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1303C>G	5.37:g.140229383C>G	ENSP00000436042:p.Leu435Val					PCDHA9_ENST00000532602.1_Missense_Mutation_p.L435V|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.L435V	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2027	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1303C>G	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242501	0.22796	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.55234	0.53;0.53	3.6	2.73	0.32206	Cadherin (5);Cadherin-like (1);	0.000000	0.26812	U	0.022369	T	0.80417	0.4619	H	0.98646	4.29	0.09310	N	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.984;0.996	T	0.72141	-0.4380	10	0.87932	D	0	.	8.9307	0.35668	0.0:0.8131:0.0:0.1869	.	435;435	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	V	435	ENSP00000436042:L435V;ENSP00000367362:L435V	ENSP00000367362:L435V	L	+	1	2	PCDHA9	140209567	0.004000	0.15560	0.182000	0.23118	0.055000	0.15305	0.439000	0.21575	0.825000	0.34637	0.313000	0.20887	CTG		0.622	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		14	132	0	0	0	1	0	14	132					G	140229383	C	G	140229383	3	3	485	1	0	0	0	0	1	0	0	0	11531	564	20	5	1305	5	PCDHA9	5	140229383	Missense_Mutation	SNP	C	TCGA-ZG-A9L6-01A-11D-A41K-08		140229383	40685877	13	32382											
PPIL4	85313	broad.mit.edu	37	chr6	149826699	149826699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttggtattttgatttatGactattactataatggccat	10	20	7	4	0	0	2	0	2	0	0	0	2	0	2	1	2	1	2	1	2	6	10			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr6:149826699G>A	ENST00000253329.2	-	13	1401	c.1369C>T	c.(1369-1371)Cat>Tat	p.H457Y	PPIL4_ENST00000340881.2_Silent_p.V89V	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	457					protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TTTGATTTATGACTATTACTA	0.383																																						ENST00000253329.2																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(1369-1371)Cat>Tat		peptidylprolyl isomerase (cyclophilin)-like 4							172	161	165					6																	149826699		2203	4300	6503	SO:0001583	missense	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149826699G>A		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"RNA binding motif (RRM) containing"	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.1369C>T	6.37:g.149826699G>A	ENSP00000253329:p.His457Tyr					PPIL4_ENST00000340881.2_Silent_p.V89V	p.H457Y	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	13	1401	-		Ovarian(120;0.0164)	457					B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	c.1369C>T	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	G	5.497	0.276604	0.10403	.	.	ENSG00000131013	ENST00000253329	T	0.12774	2.65	5.32	4.38	0.52667	.	0.000000	0.64402	D	0.000005	T	0.01765	0.0056	N	0.14661	0.345	0.80722	D	1	P	0.35745	0.518	B	0.23574	0.047	T	0.34004	-0.9846	10	0.05959	T	0.93	.	8.3529	0.32314	0.0798:0.0:0.7637:0.1565	.	457	Q8WUA2	PPIL4_HUMAN	Y	457	ENSP00000253329:H457Y	ENSP00000253329:H457Y	H	-	1	0	PPIL4	149868392	1.000000	0.71417	0.984000	0.44739	0.913000	0.54294	2.031000	0.41117	2.878000	0.98634	0.650000	0.86243	CAT		0.383	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			12	71	0	0	0	1	0	12	71					A	149826699	G	A	149826699	3	1	485	1	0	0	0	0	1	0	0	0	12329	1290	45	3	113	3	PPIL4	6	149826699	Missense_Mutation	SNP	G	TCGA-ZG-A9L6-01A-11D-A41K-08		149826699	21288368	14	32383											
MLXIPL	51085	broad.mit.edu	37	chr7	73010746	73010746	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttgcgggggagagacaCggacgctcagagtcccaggg	8	5	19	9	3	1	2	1	0	0	2	2	5	2	4	1	5	1	2	1	5	0	1			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr7:73010746C>G	ENST00000313375.3	-	12	1933	c.1886G>C	c.(1885-1887)cGt>cCt	p.R629P	MLXIPL_ENST00000429400.2_Missense_Mutation_p.R629P|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R536P|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R535P|MLXIPL_ENST00000414749.2_Missense_Mutation_p.R629P|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R629P	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	629					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGAGAGACACGGACGCTCAG	0.652																																						ENST00000313375.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1885-1887)cGt>cCt		MLX interacting protein-like							37	42	40					7																	73010746		2203	4300	6503	SO:0001583	missense	51085				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	g.chr7:73010746C>G	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1886G>C	7.37:g.73010746C>G	ENSP00000320886:p.Arg629Pro					MLXIPL_ENST00000429400.2_Missense_Mutation_p.R629P|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R535P|MLXIPL_ENST00000414749.2_Missense_Mutation_p.R629P|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R536P|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R629P	p.R629P	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN			12	1933	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	629					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.1886G>C	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	C	1.725	-0.495633	0.04291	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.21932	2.54;2.56;2.57;2.57;1.98;1.98	4.69	-0.726	0.11170	.	1.400510	0.04292	N	0.345698	T	0.13114	0.0318	N	0.22421	0.69	0.09310	N	1	B;P;P;B;B	0.37781	0.015;0.473;0.608;0.003;0.005	B;B;B;B;B	0.36418	0.009;0.112;0.224;0.001;0.007	T	0.18304	-1.0341	10	0.37606	T	0.19	2.0512	3.5985	0.08016	0.1694:0.4394:0.0:0.3912	.	536;629;629;629;629	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	P	629;629;629;629;536;535	ENSP00000412330:R629P;ENSP00000406296:R629P;ENSP00000320886:R629P;ENSP00000346629:R629P;ENSP00000378616:R536P;ENSP00000392636:R535P	ENSP00000320886:R629P	R	-	2	0	MLXIPL	72648682	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.432000	0.06956	-0.059000	0.13154	-0.375000	0.07067	CGT		0.652	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		6	62	0	0	0	1	0	6	62					G	73010746	C	G	73010746	3	3	485	1	0	0	0	0	1	0	0	0	9637	536	19	5	696	5	MLXIPL	7	73010746	Missense_Mutation	SNP	C	TCGA-ZG-A9L6-01A-11D-A41K-08		73010746	86127917	15	32384											
NSMCE2	286053	broad.mit.edu	37	chr8	126163474	126163474	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaatttgctacattggatcgGcaactaaaccattatgtaaa	15	12	7	7	1	0	0	0	0	0	0	1	2	0	1	1	2	4	3	1	2	8	6			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr8:126163474G>A	ENST00000287437.3	+	4	435	c.219G>A	c.(217-219)cgG>cgA	p.R73R	NSMCE2_ENST00000522563.1_Silent_p.R73R|NSMCE2_ENST00000517315.1_Silent_p.R13R	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	73					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|protein sumoylation (GO:0016925)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CATTGGATCGGCAACTAAACC	0.328																																						ENST00000287437.3																			0				breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9						c.(217-219)cgG>cgA		non-SMC element 2, MMS21 homolog (S. cerevisiae)							183	177	179					8																	126163474		2203	4298	6501	SO:0001819	synonymous_variant	286053				DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding	g.chr8:126163474G>A	AK057002	CCDS6356.1	8q24.13	2013-01-28	2006-12-21	2006-07-05	ENSG00000156831	ENSG00000156831		"Zinc fingers, MIZ-type"	26513	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 7"		"chromosome 8 open reading frame 36", "non-SMC element 2 homolog (MMS21, S. cerevisiae)"	C8orf36		12477932	Standard	NM_173685		Approved	FLJ32440, MMS21, NSE2, ZMIZ7	uc003yrw.2	Q96MF7	OTTHUMG00000164993	ENST00000287437.3:c.219G>A	8.37:g.126163474G>A						NSMCE2_ENST00000517315.1_Silent_p.R13R|NSMCE2_ENST00000522563.1_Silent_p.R73R	p.R73R	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		4	435	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		73					Q8N549	Silent	SNP	ENST00000287437.3	37	c.219G>A	CCDS6356.1																																																																																				0.328	NSMCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381378.1	NM_173685		4	219	0	0	0	1	0	4	219					A	126163474	G	A	126163474	2	1	485	1	0	0	0	0	0	0	0	1	10676	1190	42	3		3	NSMCE2	8	126163474	Silent	SNP	G	TCGA-ZG-A9L6-01A-11D-A41K-08		126163474	20200548	16	32385											
AK3	50808	broad.mit.edu	37	chr9	4722560	4722560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctcatgaagggccagccGagtcatgacatcatctggga	11	7	12	11	1	4	2	3	2	1	0	4	4	4	3	2	2	2	1	2	2	1	0	rs377403539	byFrequency	TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr9:4722560G>A	ENST00000381809.3	-	2	447	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	AK3_ENST00000447596.4_Intron|AK3_ENST00000359883.2_Missense_Mutation_p.R3W	NM_016282.3	NP_057366.2	P27144	KAD4_HUMAN	adenylate kinase 3	71					ADP biosynthetic process (GO:0006172)|AMP metabolic process (GO:0046033)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|GTP metabolic process (GO:0046039)|liver development (GO:0001889)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|response to drug (GO:0042493)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside triphosphate adenylate kinase activity (GO:0046899)			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)	Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)	AGGGCCAGCCGAGTCATGACA	0.463													G|||	2	0.000399361	8e-04	0	5008	,	,		20027	0		0	False		,,,				2504	0.001					ENST00000381809.3																			0				large_intestine(2)|lung(1)|ovary(2)	5						c.(217-219)Cgg>Tgg		adenylate kinase 3		G	,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	94	86	89		,7,217,7,7,217	4.6	1	9		89	1,8599		0,1,4299	no	intron,missense,missense,missense,missense,missense	AK3	NM_001199852.1,NM_001199853.1,NM_001199854.1,NM_001199855.1,NM_001199856.1,NM_016282.3	,101,101,101,101,101	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,benign,benign,benign,benign,benign	,3/158,73/228,3/158,3/158,73/228	4722560	3,13003	2203	4300	6503	SO:0001583	missense	50808				blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity	g.chr9:4722560G>A	BC013771	CCDS6455.1, CCDS56561.1, CCDS56562.1	9p24.1	2010-09-29	2004-06-11	2005-04-07	ENSG00000147853	ENSG00000147853			17376	protein-coding gene	gene with protein product		609290	"adenylate kinase 6", "adenylate kinase 3 like 1"	AK6, AK3L1		8288, 182062	Standard	NM_001199852		Approved	AKL3L1	uc003ziq.2	Q9UIJ7	OTTHUMG00000019472	ENST00000381809.3:c.217C>T	9.37:g.4722560G>A	ENSP00000371230:p.Arg73Trp					AK3_ENST00000447596.4_Intron|AK3_ENST00000359883.2_Missense_Mutation_p.R3W	p.R73W	NM_016282.3	NP_057366.2	Q9UIJ7	KAD3_HUMAN		GBM - Glioblastoma multiforme(50;0.0302)	2	447	-	all_hematologic(13;0.137)	Breast(48;0.238)	73					B2R927|D3DQ62|Q6IBH4|Q6NXQ5|Q8IUU9	Missense_Mutation	SNP	ENST00000381809.3	37	c.217C>T	CCDS6455.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263195	0.59431	4.54E-4	1.16E-4	ENSG00000147853	ENST00000381809;ENST00000359883;ENST00000474822	T;T	0.77620	0.88;-1.11	5.51	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.79263	0.4416	M	0.87827	2.91	0.48341	D	0.999639	B	0.34214	0.442	B	0.25506	0.061	T	0.81274	-0.1007	10	0.66056	D	0.02	-14.251	15.6307	0.76906	0.0:0.0:0.8614:0.1386	.	73	Q9UIJ7	KAD3_HUMAN	W	73;3;3	ENSP00000371230:R73W;ENSP00000352948:R3W	ENSP00000352948:R3W	R	-	1	2	AK3	4712560	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.974000	0.63771	1.310000	0.45006	0.591000	0.81541	CGG		0.463	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051585.1	NM_016282		3	46	0	0	0	1	0	3	46					A	4722560	G	A	4722560	3	1	485	1	0	0	0	0	1	0	0	0	441	1057	37	2	482	2	AK3	9	4722560	Missense_Mutation	SNP	G	TCGA-ZG-A9L6-01A-11D-A41K-08		4722560	136490871	17	32386											
CD72	971	broad.mit.edu	37	chr9	35616600	35616600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggacagccttactcacagcGcactcccaggcagatggcgg	9	5	13	14	2	1	1	1	0	0	1	2	2	2	2	2	4	3	2	2	4	1	1	rs368007396		TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr9:35616600G>A	ENST00000396757.1	-	5	513	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000378431.1_Missense_Mutation_p.R117C|CD72_ENST00000259633.4_Missense_Mutation_p.R117C			P21854	CD72_HUMAN	CD72 molecule	117					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TACTCACAGCGCACTCCCAGG	0.592																																						ENST00000396757.1																			0				large_intestine(5)|liver(1)|lung(6)	12						c.(349-351)Cgc>Tgc		CD72 molecule		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	106	77	87		349	3.7	1	9		87	0,8600		0,0,4300	no	missense	CD72	NM_001782.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	117/360	35616600	1,13005	2203	4300	6503	SO:0001583	missense	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35616600G>A		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"CD molecules"	1696	protein-coding gene	gene with protein product		107272	"CD72 antigen"			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.349C>T	9.37:g.35616600G>A	ENSP00000379980:p.Arg117Cys					CD72_ENST00000259633.4_Missense_Mutation_p.R117C|CD72_ENST00000490239.1_5'UTR|CD72_ENST00000378431.1_Missense_Mutation_p.R117C	p.R117C			P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	513	-			117						Missense_Mutation	SNP	ENST00000396757.1	37	c.349C>T	CCDS6581.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752664	0.69533	2.27E-4	0.0	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633;ENST00000378431	T;T;T	0.63417	-0.04;-0.04;-0.04	4.58	3.66	0.41972	.	0.497497	0.18797	N	0.130889	T	0.67202	0.2868	L	0.52364	1.645	0.37091	D	0.899426	D;D;D	0.89917	0.998;1.0;1.0	P;P;P	0.62885	0.809;0.908;0.908	T	0.69224	-0.5201	10	0.49607	T	0.09	.	5.9823	0.19413	0.0992:0.0:0.7104:0.1905	.	117;117;117	Q5T4Q8;Q5TLG3;P21854	.;.;CD72_HUMAN	C	117	ENSP00000379980:R117C;ENSP00000259633:R117C;ENSP00000367688:R117C	ENSP00000259633:R117C	R	-	1	0	CD72	35606600	0.939000	0.31865	0.999000	0.59377	0.925000	0.55904	1.719000	0.38011	1.017000	0.39495	0.561000	0.74099	CGC		0.592	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782		8	36	0	0	0	1	0	8	36					A	35616600	G	A	35616600	3	1	485	1	0	0	0	0	1	0	0	0	3034	1087	38	1	750	1	CD72	9	35616600	Missense_Mutation	SNP	G	TCGA-ZG-A9L6-01A-11D-A41K-08	30894040	35616600	105596831	18	32387											
SARDH	1757	broad.mit.edu	37	chr9	136573529	136573529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatccagcgggggtggtcCgtgagcgagtgatggaagcg	7	6	20	8	5	0	2	0	2	0	0	2	5	2	4	2	5	3	0	2	5	1	0	rs371233114		TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr9:136573529C>T	ENST00000371872.4	-	11	1607	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	SARDH_ENST00000422262.2_Silent_p.T282T|SARDH_ENST00000439388.1_Silent_p.T450T	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	450					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGGGGTGGTCCGTGAGCGAGT	0.652																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(1348-1350)acG>acA		sarcosine dehydrogenase		C	,	1,4405	2.1+/-5.4	0,1,2202	60	67	65		1350,1350	-10.3	0	9		65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SARDH	NM_001134707.1,NM_007101.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	450/919,450/919	136573529	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136573529C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1350G>A	9.37:g.136573529C>T						SARDH_ENST00000422262.2_Silent_p.T282T|SARDH_ENST00000439388.1_Silent_p.T450T	p.T450T	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	11	1607	-			450					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.1350G>A	CCDS6978.1																																																																																				0.652	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			17	75	0	0	0	1	0	17	75					T	136573529	C	T	136573529	2	4	485	1	0	0	0	0	0	0	0	1	13841	639	23	2		2	SARDH	9	136573529	Silent	SNP	C	TCGA-ZG-A9L6-01A-11D-A41K-08	100956929	136573529	4639902	19	32388											
CELF2	10659	broad.mit.edu	37	chr10	11312644	11312644	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagggctgctcttcacctAtcgtggtgaagtttgctgac	7	12	11	11	1	2	2	1	2	1	0	3	2	2	2	1	2	2	4	1	2	2	3			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr10:11312644A>G	ENST00000379261.4	+	7	705	c.613A>G	c.(613-615)Atc>Gtc	p.I205V	CELF2_ENST00000399850.3_Missense_Mutation_p.I181V|CELF2_ENST00000537122.1_Missense_Mutation_p.I94V|CELF2_ENST00000427450.1_Missense_Mutation_p.I181V|CELF2_ENST00000416382.2_Missense_Mutation_p.I205V|CELF2_ENST00000315874.4_Missense_Mutation_p.I181V|CELF2_ENST00000354897.3_Missense_Mutation_p.I181V|CELF2_ENST00000417956.2_Missense_Mutation_p.I181V|CELF2_ENST00000608830.1_Missense_Mutation_p.I181V|CELF2_ENST00000542579.1_Missense_Mutation_p.I212V|CELF2_ENST00000450189.1_Missense_Mutation_p.I212V|CELF2_ENST00000609692.1_Missense_Mutation_p.I181V|CELF2_ENST00000354440.2_Missense_Mutation_p.I181V	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	205	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CTCTTCACCTATCGTGGTGAA	0.577											OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(613-615)Atc>Gtc		CUGBP, Elav-like family member 2							45	50	48					10																	11312644		2044	4211	6255	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11312644A>G	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.613A>G	10.37:g.11312644A>G	ENSP00000368563:p.Ile205Val		OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	671	CELF2_ENST00000399850.3_Missense_Mutation_p.I181V|CELF2_ENST00000416382.2_Missense_Mutation_p.I205V|CELF2_ENST00000542579.1_Missense_Mutation_p.I212V|CELF2_ENST00000315874.3_Missense_Mutation_p.I181V|CELF2_ENST00000427450.1_Missense_Mutation_p.I181V|CELF2_ENST00000537122.1_Missense_Mutation_p.I94V|CELF2_ENST00000354897.3_Missense_Mutation_p.I181V|CELF2_ENST00000417956.2_Missense_Mutation_p.I181V|CELF2_ENST00000354440.2_Missense_Mutation_p.I181V|CELF2_ENST00000450189.1_Missense_Mutation_p.I212V	p.I205V	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			7	705	+			205			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.613A>G	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.728980	0.48833	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21;3.21;3.21;3.21;3.21;3.21	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.106629	0.64402	D	0.000006	T	0.10852	0.0265	L	0.43757	1.38	0.58432	D	0.99999	B;B;B;B;B;B	0.15930	0.002;0.002;0.003;0.002;0.003;0.015	B;B;B;B;B;B	0.16722	0.003;0.007;0.005;0.005;0.015;0.016	T	0.03315	-1.1049	10	0.72032	D	0.01	-8.1801	15.9599	0.79923	1.0:0.0:0.0:0.0	.	189;205;200;212;200;205	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	V	205;205;212;212;181;181;181;181;181;181;94;11	ENSP00000368563:I205V;ENSP00000406451:I205V;ENSP00000389951:I212V;ENSP00000443926:I212V;ENSP00000382743:I181V;ENSP00000404834:I181V;ENSP00000315328:I181V;ENSP00000346426:I181V;ENSP00000388530:I181V;ENSP00000438884:I94V	ENSP00000315328:I181V	I	+	1	0	CELF2	11352650	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	4.940000	0.63533	2.153000	0.67306	0.533000	0.62120	ATC		0.577	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				5	54	0	0	0	1	0	5	54					G	11312644	A	G	11312644	3	3	485	1	0	0	0	0	1	0	0	0	3216	449	16	4	717	4	CELF2	10	11312644	Missense_Mutation	SNP	A	TCGA-ZG-A9L6-01A-11D-A41K-08		11312644	124222103	20	32389											
MBL2	4153	broad.mit.edu	37	chr10	54531228	54531228	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggttcccccttttctccCttggtgccatcacgcccatc	3	13	6	19	1	2	0	1	0	1	0	5	0	3	0	6	2	1	1	6	2	0	4			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr10:54531228C>T	ENST00000373968.3	-	1	232	c.168G>A	c.(166-168)aaG>aaA	p.K56K		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	56	Collagen-like.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CCTTTTCTCCCTTGGTGCCAT	0.542																																						ENST00000373968.3																			0				breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(166-168)aaG>aaA		mannose-binding lectin (protein C) 2, soluble							138	124	128					10																	54531228		2203	4300	6503	SO:0001819	synonymous_variant	4153				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	g.chr10:54531228C>T	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"Collectins"	6922	protein-coding gene	gene with protein product		154545	"mannose-binding lectin (protein C) 2, soluble (opsonic defect)"	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.168G>A	10.37:g.54531228C>T							p.K56K	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN			1	232	-			56			Collagen-like.		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Silent	SNP	ENST00000373968.3	37	c.168G>A	CCDS7247.1																																																																																				0.542	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		3	29	0	0	0	1	0	3	29					T	54531228	C	T	54531228	2	4	485	1	0	0	0	0	0	0	0	1	9350	680	24	3		3	MBL2	10	54531228	Silent	SNP	C	TCGA-ZG-A9L6-01A-11D-A41K-08	43218584	54531228	81003519	21	32390											
TNKS2	80351	broad.mit.edu	37	chr10	93590737	93590737	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatatgtgaactgttgctaAgaaaaggagcaaacatcaat	19	9	8	5	0	1	2	1	1	0	1	1	3	1	3	0	1	4	3	0	1	8	3			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr10:93590737A>C	ENST00000371627.4	+	10	1541	c.1162A>C	c.(1162-1164)Aga>Cga	p.R388R		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	388					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			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)				ACTGTTGCTAAGAAAAGGAGC	0.294																																						ENST00000371627.4																			0				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						c.(1162-1164)Aga>Cga		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							95	88	90					10																	93590737		2203	4299	6502	SO:0001819	synonymous_variant	80351				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	g.chr10:93590737A>C	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1162A>C	10.37:g.93590737A>C							p.R388R	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			10	1541	+		Colorectal(252;0.162)	388					B2RBD3|Q9H8F2|Q9HAS4	Silent	SNP	ENST00000371627.4	37	c.1162A>C	CCDS7417.1																																																																																				0.294	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		5	28	0	0	0	1	0	5	28					C	93590737	A	C	93590737	2	2	485	1	0	0	0	0	0	0	0	1	16318	64	3	5		5	TNKS2	10	93590737	Silent	SNP	A	TCGA-ZG-A9L6-01A-11D-A41K-08	39059509	93590737	41944010	22	32391											
OR5L1	219437	broad.mit.edu	37	chr11	55579364	55579364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatgtcttggaaggtgcGtgtggagctggcttcttgct	5	13	14	9	1	2	0	0	0	2	0	2	2	2	2	1	4	3	3	1	4	1	3	rs138368201		TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr11:55579364G>A	ENST00000333973.2	+	1	511	c.422G>A	c.(421-423)cGt>cAt	p.R141H		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R141H(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGGAAGGTGCGTGTGGAGCTG	0.498																																						ENST00000333973.2																			2	Substitution - Missense(2)	p.R141H(2)	prostate(2)	NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(421-423)cGt>cAt		olfactory receptor, family 5, subfamily L, member 1		G	HIS/ARG	0,4400		0,0,2200	216	174	188		422	3	0	11	dbSNP_134	188	2,8590	2.2+/-6.3	0,2,4294	no	missense	OR5L1	NM_001004738.1	29	0,2,6494	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	141/312	55579364	2,12990	2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579364G>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.422G>A	11.37:g.55579364G>A	ENSP00000335529:p.Arg141His						p.R141H	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	511	+		all_epithelial(135;0.208)	141					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.422G>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	12.12	1.842627	0.32606	0.0	2.33E-4	ENSG00000186117	ENST00000333973	T	0.37411	1.2	3.98	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.359275	0.24386	N	0.038975	T	0.35711	0.0941	M	0.62723	1.935	0.09310	N	1	B	0.15719	0.014	B	0.18561	0.022	T	0.41805	-0.9488	10	0.87932	D	0	-1.0929	11.6928	0.51525	0.0:0.1804:0.8196:0.0	.	141	Q8NGL2	OR5L1_HUMAN	H	141	ENSP00000335529:R141H	ENSP00000335529:R141H	R	+	2	0	OR5L1	55335940	0.235000	0.23794	0.003000	0.11579	0.015000	0.08874	2.927000	0.48900	1.770000	0.52166	0.435000	0.28638	CGT		0.498	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		9	85	0	0	0	1	0	9	85					A	55579364	G	A	55579364	3	1	485	1	0	0	0	0	1	0	0	0	11170	1145	40	1	424	1	OR5L1	11	55579364	Missense_Mutation	SNP	G	TCGA-ZG-A9L6-01A-11D-A41K-08		55579364	79427152	23	32392											
C11orf30	56946	broad.mit.edu	37	chr11	76237544	76237544	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgccaacaggagcaaaGccagctatccttactgctac	13	7	8	13	0	0	0	0	0	0	0	1	1	1	1	3	1	8	3	3	1	5	3			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr11:76237544G>A	ENST00000529032.1	+	12	1860	c.1860G>A	c.(1858-1860)aaG>aaA	p.K620K	C11orf30_ENST00000343878.3_Silent_p.K620K|C11orf30_ENST00000533248.1_Silent_p.K634K|C11orf30_ENST00000524767.1_Silent_p.K635K|C11orf30_ENST00000334736.3_Silent_p.K620K|C11orf30_ENST00000524490.1_Silent_p.K536K|C11orf30_ENST00000525038.1_Silent_p.K635K|C11orf30_ENST00000525919.1_Silent_p.K621K			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	620	Thr-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CAGGAGCAAAGCCAGCTATCC	0.378																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(1858-1860)aaG>aaA		chromosome 11 open reading frame 30							118	103	108					11																	76237544		2200	4292	6492	SO:0001819	synonymous_variant	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76237544G>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1860G>A	11.37:g.76237544G>A						C11orf30_ENST00000524490.1_Silent_p.K536K|C11orf30_ENST00000533248.1_Silent_p.K634K|C11orf30_ENST00000525038.1_Silent_p.K635K|C11orf30_ENST00000524767.1_Silent_p.K635K|C11orf30_ENST00000525919.1_Silent_p.K621K|C11orf30_ENST00000334736.3_Silent_p.K620K|C11orf30_ENST00000343878.3_Silent_p.K620K	p.K620K			Q7Z589	EMSY_HUMAN			12	1860	+			620			Thr-rich.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	ENST00000529032.1	37	c.1860G>A	CCDS8244.1																																																																																				0.378	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		5	51	0	0	0	1	0	5	51					A	76237544	G	A	76237544	2	1	485	1	0	0	0	0	0	0	0	1	1636	962	34	3		3	C11orf30	11	76237544	Silent	SNP	G	TCGA-ZG-A9L6-01A-11D-A41K-08	20658180	76237544	58768972	24	32393											
SDSL	113675	broad.mit.edu	37	chr12	113875804	113875804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccccttccctgacttcaGttgtggtaatcgtgtgtgga	5	14	11	11	1	1	1	1	1	0	0	3	2	2	2	3	2	1	2	3	2	1	4			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr12:113875804G>A	ENST00000403593.4	+	8	1172	c.910G>A	c.(910-912)Gtt>Att	p.V304I	SDSL_ENST00000345635.4_Missense_Mutation_p.V304I			Q96GA7	SDSL_HUMAN	serine dehydratase-like	304					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						CCTGACTTCAGTTGTGGTAAT	0.632																																						ENST00000403593.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(910-912)Gtt>Att		serine dehydratase-like	Pyridoxal Phosphate(DB00114)						143	148	146					12																	113875804		2203	4300	6503	SO:0001583	missense	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113875804G>A	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.910G>A	12.37:g.113875804G>A	ENSP00000385790:p.Val304Ile					SDSL_ENST00000345635.4_Missense_Mutation_p.V304I	p.V304I			Q96GA7	SDSL_HUMAN			8	1172	+			304						Missense_Mutation	SNP	ENST00000403593.4	37	c.910G>A	CCDS9170.1	.	.	.	.	.	.	.	.	.	.	G	8.370	0.834996	0.16820	.	.	ENSG00000139410	ENST00000403593;ENST00000345635	D;D	0.97480	-4.4;-4.4	4.23	2.34	0.29019	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.282534	0.30028	N	0.010592	D	0.92645	0.7663	L	0.38953	1.18	0.35728	D	0.817679	B	0.14012	0.009	B	0.16722	0.016	D	0.88563	0.3124	10	0.20046	T	0.44	-21.3876	8.3656	0.32385	0.2668:0.0:0.7332:0.0	.	304	Q96GA7	SDSL_HUMAN	I	304	ENSP00000385790:V304I;ENSP00000341117:V304I	ENSP00000341117:V304I	V	+	1	0	SDSL	112360187	0.005000	0.15991	0.159000	0.22649	0.478000	0.33099	0.007000	0.13174	0.906000	0.36621	0.561000	0.74099	GTT		0.632	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		25	169	0	0	0	1	0	25	169					A	113875804	G	A	113875804	3	1	485	1	0	0	0	0	1	0	0	0	13976	1029	36	3	936	3	SDSL	12	113875804	Missense_Mutation	SNP	G	TCGA-ZG-A9L6-01A-11D-A41K-08		113875804	19976091	25	32394											
POSTN	10631	broad.mit.edu	37	chr13	38159066	38159066	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgtggtacttcataagagCtggagaacacaataaaaaca	18	8	9	6	0	1	2	1	0	0	2	1	4	1	2	0	2	4	2	0	2	7	4			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr13:38159066C>G	ENST00000379747.4	-	8	1013		c.e8-1		POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000541179.1_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			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)		TTCATAAGAGCTGGAGAACAC	0.383																																						ENST00000379747.4																			0				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						c.e8-1		periostin, osteoblast specific factor							75	72	73					13																	38159066		2203	4300	6503	SO:0001630	splice_region_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38159066C>G	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.896-1G>C	13.37:g.38159066C>G						POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379743.4_Splice_Site		NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		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)	8	1013	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)						B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Splice_Site	SNP	ENST00000379747.4	37		CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723727	0.68959	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2193	0.93790	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POSTN	37057066	1.000000	0.71417	0.998000	0.56505	0.727000	0.41649	7.458000	0.80787	2.524000	0.85096	0.655000	0.94253	.		0.383	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	Intron	3	26	0	0	0	1	0	3	26					G	38159066	C	G	38159066	5	3	485	1	0	0	0	0	0	0	1	0	12259	811	28	5	1679	5	POSTN	13	38159066	Splice_Site	SNP	C	TCGA-ZG-A9L6-01A-11D-A41K-08		38159066	77010812	26	32395											
SLITRK1	114798	broad.mit.edu	37	chr13	84454624	84454624	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctgcagcccccagggcagGgtaaactgttagctaagggt	10	7	14	10	0	0	0	0	0	0	0	0	0	0	0	2	3	5	6	2	3	4	3			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr13:84454624G>T	ENST00000377084.2	-	1	1904	c.1019C>A	c.(1018-1020)cCc>cAc	p.P340H		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	340	LRRNT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				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)		CCCAGGGCAGGGTAAACTGTT	0.542																																						ENST00000377084.2																			0				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						c.(1018-1020)cCc>cAc		SLIT and NTRK-like family, member 1							73	71	72					13																	84454624		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454624G>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1019C>A	13.37:g.84454624G>T	ENSP00000366288:p.Pro340His						p.P340H	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1904	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	340			LRRNT 2.		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1019C>A	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642933	0.29246	.	.	ENSG00000178235	ENST00000377084	T	0.58940	0.3	5.38	4.51	0.55191	Leucine-rich repeat-containing N-terminal (1);	0.236084	0.43919	D	0.000502	T	0.48040	0.1478	L	0.27053	0.805	0.39271	D	0.964389	B	0.23128	0.08	B	0.35073	0.195	T	0.39057	-0.9632	10	0.13853	T	0.58	-5.567	14.5617	0.68144	0.0:0.1474:0.8526:0.0	.	340	Q96PX8	SLIK1_HUMAN	H	340	ENSP00000366288:P340H	ENSP00000366288:P340H	P	-	2	0	SLITRK1	83352625	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	1.211000	0.43351	0.555000	0.69702	CCC		0.542	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		8	106	1	0	0.0477658	1	0.0486038	8	106					T	84454624	G	T	84454624	3	4	485	1	0	0	0	0	1	0	0	0	14742	1232	43	5	1075	5	SLITRK1	13	84454624	Missense_Mutation	SNP	G	TCGA-ZG-A9L6-01A-11D-A41K-08	46295558	84454624	30715254	27	32396											
OR10G3	26533	broad.mit.edu	37	chr14	22038732	22038732	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttgggtctgcccagacAgtgattaaaataagcaggtt	12	10	11	8	0	1	2	0	1	1	1	1	2	1	2	2	2	3	2	2	2	3	4			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr14:22038732A>T	ENST00000303532.1	-	1	143	c.144T>A	c.(142-144)acT>acA	p.T48T		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		CTGCCCAGACAGTGATTAAAA	0.468																																						ENST00000303532.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15						c.(142-144)acT>acA		olfactory receptor, family 10, subfamily G, member 3							75	74	74					14																	22038732		2203	4300	6503	SO:0001819	synonymous_variant	26533				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22038732A>T		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"GPCR / Class A : Olfactory receptors"	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.144T>A	14.37:g.22038732A>T							p.T48T	NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN		GBM - Glioblastoma multiforme(265;0.0139)	1	143	-	all_cancers(95;0.000987)		48					Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	37	c.144T>A	CCDS32046.1																																																																																				0.468	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			3	28	0	0	0	1	0	3	28					T	22038732	A	T	22038732	2	4	485	1	0	0	0	0	0	0	0	1	10900	175	7	5		5	OR10G3	14	22038732	Silent	SNP	A	TCGA-ZG-A9L6-01A-11D-A41K-08		22038732	85310808	28	32397											
FUT8	2530	broad.mit.edu	37	chr14	66083072	66083072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgcagatgaatttcttttgGatttaggacatcatgaaagg	13	14	10	4	0	2	3	1	2	1	1	2	5	2	5	0	3	1	1	0	3	3	5			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr14:66083072G>A	ENST00000360689.5	+	5	2190	c.463G>A	c.(463-465)Gat>Aat	p.D155N	FUT8_ENST00000394585.1_Missense_Mutation_p.D155N|FUT8_ENST00000358307.2_5'UTR|FUT8_ENST00000557164.1_5'UTR|FUT8_ENST00000394586.2_Missense_Mutation_p.D155N	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	155					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			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)		ATTTCTTTTGGATTTAGGACA	0.328																																						ENST00000360689.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(463-465)Gat>Aat		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							75	80	78					14																	66083072		2203	4299	6502	SO:0001583	missense	2530				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	g.chr14:66083072G>A	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"Fucosyltransferases"	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.463G>A	14.37:g.66083072G>A	ENSP00000353910:p.Asp155Asn					FUT8_ENST00000358307.2_5'UTR|FUT8_ENST00000394586.2_Missense_Mutation_p.D155N|FUT8_ENST00000557164.1_5'UTR|FUT8_ENST00000394585.1_Missense_Mutation_p.D155N	p.D155N	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	5	2190	+			155					B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.463G>A	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130763	0.37630	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000394585	T;T;T	0.21543	2.0;2.0;2.0	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.19725	0.0474	L	0.45137	1.4	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.06075	-1.0847	10	0.13470	T	0.59	-18.1185	17.0402	0.86487	0.0:0.0:1.0:0.0	.	155	Q9BYC5	FUT8_HUMAN	N	155	ENSP00000353910:D155N;ENSP00000378087:D155N;ENSP00000378086:D155N	ENSP00000345865:D155N	D	+	1	0	FUT8	65152825	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.918000	0.87506	2.615000	0.88500	0.557000	0.71058	GAT		0.328	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		9	63	0	0	0	1	0	9	63					A	66083072	G	A	66083072	3	1	485	1	0	0	0	0	1	0	0	0	6110	1174	41	3	473	3	FUT8	14	66083072	Missense_Mutation	SNP	G	TCGA-ZG-A9L6-01A-11D-A41K-08	44044340	66083072	41266468	29	32398											
EML5	161436	broad.mit.edu	37	chr14	89154654	89154654	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacactggcccatcatgCgctttcactgtttttacaag	9	13	7	12	1	2	1	2	1	0	0	2	1	2	1	1	1	3	2	1	1	3	4	rs118043831	byFrequency	TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr14:89154654C>T	ENST00000380664.5	-	18	2702	c.2703G>A	c.(2701-2703)gcG>gcA	p.A901A	EML5_ENST00000554922.1_Silent_p.A901A|EML5_ENST00000352093.5_Silent_p.A863A			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	901						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			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						GCCCATCATGCGCTTTCACTG	0.388													C|||	10	0.00199681	0	0.0058	5008	,	,		19499	0		0.004	False		,,,				2504	0.002					ENST00000554922.1																			0				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						c.(2701-2703)gcG>gcA		echinoderm microtubule associated protein like 5		C		1,3885		0,1,1942	294	285	288		2703	-0.1	1	14	dbSNP_132	288	13,8281		0,13,4134	no	coding-synonymous	EML5	NM_183387.2		0,14,6076	TT,TC,CC		0.1567,0.0257,0.1149		901/1978	89154654	14,12166	1943	4147	6090	SO:0001819	synonymous_variant	161436					cytoplasm|microtubule		g.chr14:89154654C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2703G>A	14.37:g.89154654C>T						EML5_ENST00000352093.5_Silent_p.A863A|EML5_ENST00000380664.5_Silent_p.A901A	p.A901A	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			18	2951	-			901					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	c.2703G>A	CCDS45148.1																																																																																				0.388	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			4	214	0	0	0	1	0	4	214					T	89154654	C	T	89154654	2	4	485	1	0	0	0	0	0	0	0	1	5100	755	27	1		1	EML5	14	89154654	Silent	SNP	C	TCGA-ZG-A9L6-01A-11D-A41K-08	23071582	89154654	18194886	30	32399											
EIF5	1983	broad.mit.edu	37	chr14	103806053	103806053	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagcaatgcatcaagctcaGcttatctccaagattccaca	13	10	6	12	0	3	1	2	0	1	1	5	1	4	1	2	0	4	5	2	0	5	3			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr14:103806053G>C	ENST00000216554.3	+	10	1660	c.984G>C	c.(982-984)caG>caC	p.Q328H	EIF5_ENST00000392715.2_Missense_Mutation_p.Q328H|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000558506.1_Missense_Mutation_p.Q328H	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	328	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			ATCAAGCTCAGCTTATCTCCA	0.433																																						ENST00000216554.3																			0				breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(982-984)caG>caC		eukaryotic translation initiation factor 5							124	107	112					14																	103806053		2203	4300	6503	SO:0001583	missense	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103806053G>C	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.984G>C	14.37:g.103806053G>C	ENSP00000216554:p.Gln328His					EIF5_ENST00000558506.1_Missense_Mutation_p.Q328H|EIF5_ENST00000392715.2_Missense_Mutation_p.Q328H	p.Q328H	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	Epithelial(46;0.182)		10	1660	+		Melanoma(154;0.155)	328			W2.		Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	ENST00000216554.3	37	c.984G>C	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	15.32	2.798656	0.50208	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	D;D	0.90197	-2.63;-2.63	5.89	5.01	0.66863	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.84056	0.5388	N	0.21545	0.675	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.79434	-0.1805	10	0.45353	T	0.12	-4.4371	13.3414	0.60547	0.0726:0.0:0.9274:0.0	.	328	P55010	IF5_HUMAN	H	328	ENSP00000216554:Q328H;ENSP00000376477:Q328H	ENSP00000216554:Q328H	Q	+	3	2	EIF5	102875806	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.500000	0.73687	1.498000	0.48600	-0.259000	0.10710	CAG		0.433	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		8	42	0	0	0	1	0	8	42					C	103806053	G	C	103806053	3	2	485	1	0	0	0	0	1	0	0	0	5040	962	34	5	1014	5	EIF5	14	103806053	Missense_Mutation	SNP	G	TCGA-ZG-A9L6-01A-11D-A41K-08	14651399	103806053	3543487	31	32400											
TUBGCP4	27229	broad.mit.edu	37	chr15	43669217	43669217	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttttttattgcagttcctGggtgatccccatctctccat	6	17	7	11	0	1	1	0	1	1	0	5	1	4	1	4	1	1	3	4	1	1	5			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr15:43669217G>A	ENST00000260383.7	+	4	590	c.336G>A	c.(334-336)ctG>ctA	p.L112L	TUBGCP4_ENST00000399460.3_5'UTR|TUBGCP4_ENST00000564079.1_Silent_p.L112L			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	112					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGCAGTTCCTGGGTGATCCCC	0.378																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(334-336)ctG>ctA		tubulin, gamma complex associated protein 4							177	152	160					15																	43669217		1838	4095	5933	SO:0001819	synonymous_variant	27229				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	g.chr15:43669217G>A	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.336G>A	15.37:g.43669217G>A						TUBGCP4_ENST00000260383.7_Silent_p.L112L|TUBGCP4_ENST00000399460.3_5'UTR	p.L112L	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	4	576	+		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)	112					B3KNK6|Q969X3|Q9NVF0	Silent	SNP	ENST00000260383.7	37	c.336G>A																																																																																					0.378	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		8	45	0	0	0	1	0	8	45					A	43669217	G	A	43669217	2	1	485	1	0	0	0	0	0	0	0	1	16765	1335	47	3		3	TUBGCP4	15	43669217	Silent	SNP	G	TCGA-ZG-A9L6-01A-11D-A41K-08		43669217	58862175	32	32401											
THSD4	79875	broad.mit.edu	37	chr15	72039275	72039275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtacgccaaccgcagccTgacggtgcagccctaccgct	7	6	12	16	4	0	1	0	1	0	0	0	1	0	1	5	2	6	4	5	2	3	2			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr15:72039275T>C	ENST00000355327.3	+	13	2269	c.2135T>C	c.(2134-2136)cTg>cCg	p.L712P	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.L712P|THSD4_ENST00000357769.4_Missense_Mutation_p.L352P			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	712	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AACCGCAGCCTGACGGTGCAG	0.642																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2134-2136)cTg>cCg		thrombospondin, type I, domain containing 4							35	43	40					15																	72039275		2159	4277	6436	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72039275T>C	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2135T>C	15.37:g.72039275T>C	ENSP00000347484:p.Leu712Pro					THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.L712P|THSD4_ENST00000357769.4_Missense_Mutation_p.L352P	p.L712P			Q6ZMP0	THSD4_HUMAN			13	2269	+			712			TSP type-1 2.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.2135T>C	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	T	17.51	3.408061	0.62399	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.62364	0.03;0.03;0.32	5.08	5.08	0.68730	.	.	.	.	.	T	0.68915	0.3053	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.66516	-0.5904	9	0.30854	T	0.27	.	12.7805	0.57474	0.0:0.0:0.0:1.0	.	352;712	B4DR13;Q6ZMP0	.;THSD4_HUMAN	P	712;712;352	ENSP00000347484:L712P;ENSP00000261862:L712P;ENSP00000350413:L352P	ENSP00000261862:L712P	L	+	2	0	THSD4	69826329	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	3.921000	0.56454	1.900000	0.55004	0.528000	0.53228	CTG		0.642	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		7	28	0	0	0	1	0	7	28					C	72039275	T	C	72039275	3	2	485	1	0	0	0	0	1	0	0	0	15875	1580	55	4	2181	4	THSD4	15	72039275	Missense_Mutation	SNP	T	TCGA-ZG-A9L6-01A-11D-A41K-08	28370058	72039275	30492117	33	32402											
EARS2	124454	broad.mit.edu	37	chr16	23544062	23544062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaactgtgtgatcagctccGgcagggtcctgcccatttgg	6	11	13	11	1	1	2	1	2	0	0	3	2	3	2	3	3	3	2	3	3	1	1			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr16:23544062G>A	ENST00000563459.1	-	5	989	c.983C>T	c.(982-984)cCg>cTg	p.P328L	EARS2_ENST00000563232.1_Missense_Mutation_p.P328L|EARS2_ENST00000564501.1_Missense_Mutation_p.P328L|EARS2_ENST00000449606.1_Missense_Mutation_p.P328L|EARS2_ENST00000564987.1_5'UTR			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	328					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		GATCAGCTCCGGCAGGGTCCT	0.532																																						ENST00000449606.1																			0				central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(982-984)cCg>cTg		glutamyl-tRNA synthetase 2, mitochondrial	L-Glutamic Acid(DB00142)						56	58	57					16																	23544062		1940	4142	6082	SO:0001583	missense	124454				glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	g.chr16:23544062G>A	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"Aminoacyl tRNA synthetases / Class I"	29419	protein-coding gene	gene with protein product	"glutamate tRNA ligase 2, mitochondrial"	612799	"glutamyl-tRNA synthetase 2, mitochondrial (putative)"			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.983C>T	16.37:g.23544062G>A	ENSP00000456467:p.Pro328Leu					EARS2_ENST00000563459.1_Missense_Mutation_p.P328L|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000563232.1_Missense_Mutation_p.P328L|EARS2_ENST00000564501.1_Missense_Mutation_p.P328L	p.P328L	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN		GBM - Glioblastoma multiforme(48;0.0353)	5	1014	-			328					B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	ENST00000563459.1	37	c.983C>T	CCDS42132.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322381	0.23994	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.20881	2.04	5.65	4.69	0.59074	Glutamyl/glutaminyl-tRNA synthetase, class Ib, alpha-bundle domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.376195	0.31145	N	0.008177	T	0.13927	0.0337	L	0.37800	1.135	0.47698	D	0.999492	P;P	0.44816	0.844;0.577	B;B	0.35114	0.196;0.146	T	0.03344	-1.1046	10	0.66056	D	0.02	-1.1089	7.3706	0.26800	0.0817:0.0:0.6572:0.261	.	328;328	Q86YH3;Q5JPH6	.;SYEM_HUMAN	L	328	ENSP00000395196:P328L	ENSP00000343488:P328L	P	-	2	0	EARS2	23451563	1.000000	0.71417	0.914000	0.36105	0.107000	0.19398	5.343000	0.65976	1.384000	0.46424	0.655000	0.94253	CCG		0.532	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		8	31	0	0	0	1	0	8	31					A	23544062	G	A	23544062	3	1	485	1	0	0	0	0	1	0	0	0	4878	1116	39	2	608	2	EARS2	16	23544062	Missense_Mutation	SNP	G	TCGA-ZG-A9L6-01A-11D-A41K-08		23544062	66810691	34	32403											
PRPSAP2	5636	broad.mit.edu	37	chr17	18833976	18833976	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacaatggggagtccatgTcctaccttttcagaaacata	12	11	7	11	0	1	1	1	0	0	1	4	2	4	2	4	2	2	0	4	2	4	4			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr17:18833976T>A	ENST00000268835.2	+	12	1358	c.1075T>A	c.(1075-1077)Tcc>Acc	p.S359T	PRPSAP2_ENST00000419071.2_Missense_Mutation_p.S319T|PRPSAP2_ENST00000536323.1_Missense_Mutation_p.S273T|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.S310T	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	359					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						GGAGTCCATGTCCTACCTTTT	0.478																																						ENST00000268835.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(1075-1077)Tcc>Acc		phosphoribosyl pyrophosphate synthetase-associated protein 2							98	91	93					17																	18833976		2203	4300	6503	SO:0001583	missense	5636				nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:18833976T>A	AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.1075T>A	17.37:g.18833976T>A	ENSP00000268835:p.Ser359Thr					PRPSAP2_ENST00000536323.1_Missense_Mutation_p.S273T|PRPSAP2_ENST00000419071.2_Missense_Mutation_p.S319T|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.S310T	p.S359T	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN			12	1358	+			359					B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Missense_Mutation	SNP	ENST00000268835.2	37	c.1075T>A	CCDS11200.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486564	0.84854	.	.	ENSG00000141127	ENST00000395656;ENST00000419071;ENST00000268835;ENST00000536323;ENST00000542013	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	4.98	4.98	0.66077	.	0.124870	0.56097	D	0.000025	D	0.82309	0.5009	M	0.81497	2.545	0.58432	D	0.999999	B;D;P;D	0.62365	0.231;0.991;0.904;0.975	B;P;P;P	0.53224	0.074;0.721;0.624;0.703	D	0.85038	0.0921	10	0.56958	D	0.05	-1.3212	14.9586	0.71138	0.0:0.0:0.0:1.0	.	310;319;146;359	B7ZKZ1;E7EMY2;Q6ZTP6;O60256	.;.;.;KPRB_HUMAN	T	359;319;359;273;310	ENSP00000392536:S319T;ENSP00000268835:S359T;ENSP00000443967:S273T;ENSP00000439129:S310T	ENSP00000268835:S359T	S	+	1	0	PRPSAP2	18774701	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.305000	0.51873	1.972000	0.57404	0.528000	0.53228	TCC		0.478	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132112.3	NM_002767		10	58	0	0	0	1	0	10	58					A	18833976	T	A	18833976	3	1	485	1	0	0	0	0	1	0	0	0	12582	1667	58	5	1113	5	PRPSAP2	17	18833976	Missense_Mutation	SNP	T	TCGA-ZG-A9L6-01A-11D-A41K-08		18833976	62361234	35	32404											
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	10	13	6	12	0	2	2	0	2	2	0	3	3	3	2	4	0	3	1	4	0	3	4			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr17:47696432A>G	ENST00000393328.2	-	6	756	c.391T>C	c.(391-393)Tgg>Cgg	p.W131R	SPOP_ENST00000503676.1_Missense_Mutation_p.W131R|SPOP_ENST00000393331.3_Missense_Mutation_p.W131R|SPOP_ENST00000504102.1_Missense_Mutation_p.W131R|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.W131R	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Cgg		speckle-type POZ protein							121	124	123					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>C	17.37:g.47696432A>G	ENSP00000377001:p.Trp131Arg	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.W131R|SPOP_ENST00000504102.1_Missense_Mutation_p.W131R|SPOP_ENST00000393328.2_Missense_Mutation_p.W131R|SPOP_ENST00000503676.1_Missense_Mutation_p.W131R	p.W131R	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.899719	0.72754	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.76407	0.3983	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76321	-0.3002	10	0.45353	T	0.12	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	R	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131R;ENSP00000377004:W131R;ENSP00000240327:W131R;ENSP00000425905:W131R;ENSP00000420908:W131R;ENSP00000426986:W131R;ENSP00000420960:W131R;ENSP00000426262:W131R;ENSP00000424119:W131R	ENSP00000240327:W131R	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		18	98	0	0	0	1	0	18	98					G	47696432	A	G	47696432	3	3	485	1	0	0	0	0	1	0	0	0	15083	188	7	4	757	4	SPOP	17	47696432	Missense_Mutation	SNP	A	TCGA-ZG-A9L6-01A-11D-A41K-08	28862456	47696432	33498778	36	32405											
SOX9	6662	broad.mit.edu	37	chr17	70119078	70119078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcgccacactcctcctccgGcatgagcgaggtgcactccc	6	7	9	19	3	0	1	0	1	0	0	5	2	4	1	5	2	2	2	5	2	0	0			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr17:70119078G>A	ENST00000245479.2	+	2	1022	c.650G>A	c.(649-651)gGc>gAc	p.G217D		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	217					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			TCCTCCTCCGGCATGAGCGAG	0.697																																					Pancreas(42;83 1041 2320 35205 39456)	ENST00000245479.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26						c.(649-651)gGc>gAc		SRY (sex determining region Y)-box 9							55	60	58					17																	70119078		2203	4300	6503	SO:0001583	missense	6662				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	g.chr17:70119078G>A	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"SRY (sex determining region Y)-boxes"	11204	protein-coding gene	gene with protein product		608160	"campomelic dysplasia, autosomal sex-reversal"	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.650G>A	17.37:g.70119078G>A	ENSP00000245479:p.Gly217Asp						p.G217D	NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		2	1022	+		Colorectal(1115;0.245)	217					Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	c.650G>A	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174881	0.78564	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.83755	-1.76	4.61	4.61	0.57282	.	0.104673	0.64402	D	0.000003	T	0.79981	0.4540	L	0.57536	1.79	0.49582	D	0.999805	B	0.32245	0.361	B	0.21708	0.036	T	0.81972	-0.0688	10	0.87932	D	0	.	17.4407	0.87564	0.0:0.0:1.0:0.0	.	217	P48436	SOX9_HUMAN	D	217	ENSP00000245479:G217D	ENSP00000245479:G217D	G	+	2	0	SOX9	67630673	1.000000	0.71417	0.995000	0.50966	0.654000	0.38779	7.748000	0.85085	2.113000	0.64589	0.491000	0.48974	GGC		0.697	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		4	110	0	0	0	1	0	4	110					A	70119078	G	A	70119078	3	1	485	1	0	0	0	0	1	0	0	0	14958	1203	42	3	656	3	SOX9	17	70119078	Missense_Mutation	SNP	G	TCGA-ZG-A9L6-01A-11D-A41K-08	22422646	70119078	11076132	37	32406											
PIP5K1C	23396	broad.mit.edu	37	chr19	3643249	3643249	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcgcccacctgtaccgCggctgctccgacgtctccga	4	8	10	19	6	1	0	0	0	1	0	4	2	2	0	6	1	3	3	6	1	1	1			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr19:3643249C>T	ENST00000335312.3	-	13	1729	c.1641G>A	c.(1639-1641)ccG>ccA	p.P547P	PIP5K1C_ENST00000539785.1_Silent_p.P547P|PIP5K1C_ENST00000589578.1_Silent_p.P547P|PIP5K1C_ENST00000537021.1_Silent_p.P547P	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	547					actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			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)		ACCTGTACCGCGGCTGCTCCG	0.652																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3																			0				large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.(1639-1641)ccG>ccA		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							83	75	78					19																	3643249		2203	4300	6503	SO:0001819	synonymous_variant	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3643249C>T	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1641G>A	19.37:g.3643249C>T						PIP5K1C_ENST00000539785.1_Silent_p.P547P|PIP5K1C_ENST00000537021.1_Silent_p.P547P|PIP5K1C_ENST00000589578.1_Silent_p.P547P	p.P547P	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	13	1729	-		Hepatocellular(1079;0.137)	547					B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Silent	SNP	ENST00000335312.3	37	c.1641G>A	CCDS32872.1																																																																																				0.652	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		6	50	0	0	0	1	0	6	50					T	3643249	C	T	3643249	2	4	485	1	0	0	0	0	0	0	0	1	11941	755	27	1		1	PIP5K1C	19	3643249	Silent	SNP	C	TCGA-ZG-A9L6-01A-11D-A41K-08		3643249	55485734	38	32407											
TMEM150B	284417	broad.mit.edu	37	chr19	55824409	55824409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgctacgcagcgagcaggCgtggaggacgatcactgccc	9	4	15	13	5	1	0	1	0	0	0	1	5	1	2	1	3	4	3	1	3	1	1			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr19:55824409C>T	ENST00000326652.4	-	8	702	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	TMEM150B_ENST00000438693.1_Missense_Mutation_p.A174T|CTD-2105E13.14_ENST00000596786.1_RNA	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	174						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						AGCGAGCAGGCGTGGAGGACG	0.682																																						ENST00000326652.4																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(520-522)Gcc>Acc		transmembrane protein 150B							26	34	31					19																	55824409		2177	4272	6449	SO:0001583	missense	284417					integral to membrane		g.chr19:55824409C>T	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"transmembrane protein 224"	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.520G>A	19.37:g.55824409C>T	ENSP00000320757:p.Ala174Thr					TMEM150B_ENST00000438693.1_Missense_Mutation_p.A174T	p.A174T			A6NC51	T150B_HUMAN			8	702	-			174					B7ZW71	Missense_Mutation	SNP	ENST00000326652.4	37	c.520G>A	CCDS42629.1	.	.	.	.	.	.	.	.	.	.	.	7.962	0.747197	0.15710	.	.	ENSG00000180061	ENST00000326652;ENST00000438693	T;T	0.43294	0.95;0.95	4.37	-8.74	0.00838	.	1.897810	0.02288	N	0.070020	T	0.22781	0.0550	L	0.27053	0.805	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.14699	-1.0463	10	0.23891	T	0.37	.	1.9291	0.03323	0.1587:0.1933:0.1446:0.5033	.	174	A6NC51	T150B_HUMAN	T	174	ENSP00000320757:A174T;ENSP00000412658:A174T	ENSP00000320757:A174T	A	-	1	0	TMEM150B	60516221	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-6.245000	0.00074	-3.860000	0.00098	-0.535000	0.04281	GCC		0.682	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	NM_001085488		4	17	0	0	0	1	0	4	17					T	55824409	C	T	55824409	3	4	485	1	0	0	0	0	1	0	0	0	16065	768	27	1	185	1	TMEM150B	19	55824409	Missense_Mutation	SNP	C	TCGA-ZG-A9L6-01A-11D-A41K-08	52181160	55824409	3304574	39	32408											
PAX1	5075	broad.mit.edu	37	chr20	21689273	21689273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgtgaaccgcacggccttcCccgccacccccgcagtgaat	7	5	10	19	5	0	2	0	2	0	0	1	2	1	2	7	1	1	2	7	1	2	1			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr20:21689273C>T	ENST00000398485.2	+	3	1048	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.P308S	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	332					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CACGGCCTTCCCCGCCACCCC	0.602																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(994-996)Ccc>Tcc		paired box 1							40	46	44					20																	21689273		2203	4300	6503	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21689273C>T		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.994C>T	20.37:g.21689273C>T	ENSP00000381499:p.Pro332Ser					PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.P308S	p.P332S	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			3	1048	+			332					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.994C>T	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	C	11.18	1.564007	0.27915	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98381	-4.51;-4.9	5.41	3.45	0.39498	.	0.238464	0.43260	N	0.000584	D	0.95066	0.8402	L	0.32530	0.975	0.46823	D	0.99921	B;B;B	0.28350	0.036;0.0;0.208	B;B;B	0.23716	0.03;0.001;0.048	D	0.91755	0.5415	10	0.37606	T	0.19	.	12.0036	0.53246	0.0:0.8555:0.0:0.1445	.	308;238;332	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	S	332;308	ENSP00000381499:P332S;ENSP00000410355:P308S	ENSP00000381499:P332S	P	+	1	0	PAX1	21637273	0.976000	0.34144	0.945000	0.38365	0.243000	0.25628	1.724000	0.38064	0.634000	0.30469	0.455000	0.32223	CCC		0.602	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			6	74	0	0	0	1	0	6	74					T	21689273	C	T	21689273	3	4	485	1	0	0	0	0	1	0	0	0	11478	623	22	3	1004	3	PAX1	20	21689273	Missense_Mutation	SNP	C	TCGA-ZG-A9L6-01A-11D-A41K-08		21689273	41336247	40	32409											
PIGT	51604	broad.mit.edu	37	chr20	44054316	44054316	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgccctacaacgtgatCtgcctcacgtgcactgtggt	8	10	10	13	2	2	1	1	1	1	0	2	1	2	1	2	1	6	2	2	1	2	1			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr20:44054316C>A	ENST00000279036.6	+	12	1667	c.1587C>A	c.(1585-1587)atC>atA	p.I529I	PIGT_ENST00000341555.5_Silent_p.I335I|PIGT_ENST00000372689.5_Silent_p.I462I|PIGT_ENST00000545755.1_Silent_p.I267I|PIGT_ENST00000279035.9_Silent_p.I427I|PIGT_ENST00000535404.1_Silent_p.I374I|PIGT_ENST00000543458.2_Silent_p.I473I	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	529					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				ACAACGTGATCTGCCTCACGT	0.597																																						ENST00000279036.6																			0				breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22						c.(1585-1587)atC>atA		phosphatidylinositol glycan anchor biosynthesis, class T							77	51	60					20																	44054316		2203	4300	6503	SO:0001819	synonymous_variant	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44054316C>A		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"Phosphatidylinositol glycan anchor biosynthesis"	14938	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610272	"phosphatidylinositol glycan, class T"			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1587C>A	20.37:g.44054316C>A						PIGT_ENST00000545755.1_Silent_p.I267I|PIGT_ENST00000341555.5_Silent_p.I335I|PIGT_ENST00000535404.1_Silent_p.I374I|PIGT_ENST00000543458.2_Silent_p.I473I|PIGT_ENST00000279035.9_Silent_p.I427I|PIGT_ENST00000372689.5_Silent_p.I462I	p.I529I	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN			12	1667	+		Myeloproliferative disorder(115;0.0122)	529					B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Silent	SNP	ENST00000279036.6	37	c.1587C>A	CCDS13353.1																																																																																				0.597	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		3	26	1	0	0.115264	1	0.115264	3	26					A	44054316	C	A	44054316	2	1	485	1	0	0	0	0	0	0	0	1	11899	903	32	5		5	PIGT	20	44054316	Silent	SNP	C	TCGA-ZG-A9L6-01A-11D-A41K-08	22365043	44054316	18971204	41	32410											
ELMO2	63916	broad.mit.edu	37	chr20	45003941	45003941	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttcggtcccactcccaggGgcattgctaggatcagactc	7	11	10	13	1	1	1	1	0	0	1	5	2	3	2	2	4	1	2	2	4	1	4			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr20:45003941G>T	ENST00000290246.6	-	13	1193	c.999C>A	c.(997-999)gcC>gcA	p.A333A	ELMO2_ENST00000445496.2_Silent_p.A150A|ELMO2_ENST00000396391.1_Silent_p.A333A|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000454865.2_Silent_p.A65A|ELMO2_ENST00000352077.2_Silent_p.A331A|ELMO2_ENST00000372176.1_Silent_p.A245A|ELMO2_ENST00000439931.2_Silent_p.A345A	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	333	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CACTCCCAGGGGCATTGCTAG	0.498																																						ENST00000372176.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(733-735)gcC>gcA		engulfment and cell motility 2							191	119	143					20																	45003941		2203	4300	6503	SO:0001819	synonymous_variant	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45003941G>T	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.999C>A	20.37:g.45003941G>T						ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000439931.2_Silent_p.A345A|ELMO2_ENST00000454865.2_Silent_p.A65A|ELMO2_ENST00000445496.2_Silent_p.A150A|ELMO2_ENST00000396391.1_Silent_p.A333A|ELMO2_ENST00000290246.6_Silent_p.A333A|ELMO2_ENST00000352077.2_Silent_p.A331A	p.A245A			Q96JJ3	ELMO2_HUMAN			13	1203	-		Myeloproliferative disorder(115;0.0122)	333					E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Silent	SNP	ENST00000290246.6	37	c.735C>A	CCDS13398.1																																																																																				0.498	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		6	50	1	0	2.0095e-06	1	2.28531e-06	6	50					T	45003941	G	T	45003941	2	4	485	1	0	0	0	0	0	0	0	1	5066	1219	43	5		5	ELMO2	20	45003941	Silent	SNP	G	TCGA-ZG-A9L6-01A-11D-A41K-08	949625	45003941	18021579	42	32411											
C22orf25	128989	broad.mit.edu	37	chr22	20049058	20049058	+	Frame_Shift_Del	DEL	T	T	-																															gattgctcctcacaggcaccTacgggctgagcaacgcgctg																										TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr22:20049058delT	ENST00000327374.4	+	7	635	c.457delT	c.(457-459)tacfs	p.Y153fs	TANGO2_ENST00000432883.1_Frame_Shift_Del_p.Y91fs|AC006547.13_ENST00000609644.1_RNA|TANGO2_ENST00000401886.1_Frame_Shift_Del_p.Y91fs|AC006547.13_ENST00000601746.1_RNA|AC006547.13_ENST00000600617.1_RNA|AC006547.13_ENST00000600937.1_RNA|AC006547.13_ENST00000598339.1_RNA|AC006547.13_ENST00000609191.1_RNA|AC006547.13_ENST00000596334.1_RNA|AC006547.13_ENST00000608610.1_RNA|AC006547.13_ENST00000415503.1_RNA|TANGO2_ENST00000398042.2_Frame_Shift_Del_p.Y91fs|TANGO2_ENST00000434570.2_Intron|TANGO2_ENST00000456048.1_Frame_Shift_Del_p.Y158fs|TANGO2_ENST00000447208.2_Frame_Shift_Del_p.Y153fs|TANGO2_ENST00000401833.1_Frame_Shift_Del_p.Y194fs|AC006547.13_ENST00000595864.1_RNA|TANGO2_ENST00000420290.2_Frame_Shift_Del_p.Y55fs	NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4	NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3	Q6ICL3	TNG2_HUMAN	transport and golgi organization 2 homolog (Drosophila)	153																	CACAGGCACCTACGGGCTGAG	0.632																																						ENST00000327374.4																			0											c.(457-459)acfs		transport and golgi organization 2 homolog (Drosophila)							24	24	24					22																	20049058		2203	4298	6501	SO:0001589	frameshift_variant	128989							g.chr22:20049058delT		CCDS13772.1, CCDS63404.1, CCDS63405.1, CCDS63406.1, CCDS63407.1, CCDS74821.1, CCDS74822.1	22q11.21	2012-12-13	2012-12-13	2012-12-13	ENSG00000183597	ENSG00000183597			25439	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 25"	C22orf25		12477932	Standard	XM_005261222		Approved	DKFZp761P1121	uc002zrc.1	Q6ICL3	OTTHUMG00000150510	ENST00000327374.4:c.457delT	22.37:g.20049058delT	ENSP00000332721:p.Tyr153fs					TANGO2_ENST00000420290.2_Frame_Shift_Del_p.Y55fs|TANGO2_ENST00000401833.1_Frame_Shift_Del_p.Y194fs|TANGO2_ENST00000401886.1_Frame_Shift_Del_p.Y91fs|TANGO2_ENST00000398042.2_Frame_Shift_Del_p.Y91fs|TANGO2_ENST00000456048.1_Frame_Shift_Del_p.Y158fs|TANGO2_ENST00000447208.2_Frame_Shift_Del_p.Y153fs|TANGO2_ENST00000434570.2_Intron|TANGO2_ENST00000432883.1_Frame_Shift_Del_p.Y91fs	p.Y153fs	NM_152906.4	NP_690870.3					7	635	+								A8MUE9|B7WNV6|B7Z583|B7Z730|D3DX23|Q8IW05|Q8NAL0|Q8TCS0|Q96M16	Frame_Shift_Del	DEL	ENST00000327374.4	37	c.457delT	CCDS13772.1																																																																																				0.632	TANGO2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318689.2	NM_152906		2	4						2	4	---	---	---	---	-	20049058	T	-	20049058	7	5	485	1	0	1	0	1	0	0	0	0	2139	1522	53	0	479	0	C22orf25	22	20049058	Frame_Shift_Del	DEL	T	TCGA-ZG-A9L6-01A-11D-A41K-08		20049058	31255508	43	32412											
MN1	4330	broad.mit.edu	37	chr22	28194061	28194061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggagagcgcagccaggCagctctggccgaacaggttg	8	5	17	11	3	1	1	0	0	1	1	1	3	1	1	2	5	4	4	2	5	1	1			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr22:28194061C>A	ENST00000302326.4	-	1	3425	c.2471G>T	c.(2470-2472)tGc>tTc	p.C824F		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	824					intramembranous ossification (GO:0001957)					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						CGCAGCCAGGCAGCTCTGGCC	0.632			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				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						c.(2470-2472)tGc>tTc		meningioma (disrupted in balanced translocation) 1							47	54	52					22																	28194061		1953	4137	6090	SO:0001583	missense	4330						binding	g.chr22:28194061C>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2471G>T	22.37:g.28194061C>A	ENSP00000304956:p.Cys824Phe						p.C824F	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	3425	-			824					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.2471G>T	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450410	0.63290	.	.	ENSG00000169184	ENST00000302326	T	0.64803	-0.12	3.74	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.68229	0.2978	L	0.29908	0.895	0.58432	D	0.99999	D	0.76494	0.999	D	0.83275	0.996	T	0.71424	-0.4597	10	0.54805	T	0.06	-13.2679	14.2933	0.66295	0.0:1.0:0.0:0.0	.	824	Q10571	MN1_HUMAN	F	824	ENSP00000304956:C824F	ENSP00000304956:C824F	C	-	2	0	MN1	26524061	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.557000	0.73937	1.922000	0.55676	0.462000	0.41574	TGC		0.632	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		11	73	1	0	3.07112e-06	1	3.36085e-06	11	73					A	28194061	C	A	28194061	3	1	485	1	0	0	0	0	1	0	0	0	9673	710	25	5	1499	5	MN1	22	28194061	Missense_Mutation	SNP	C	TCGA-ZG-A9L6-01A-11D-A41K-08	8145003	28194061	23110505	44	32413											
BRWD3	254065	broad.mit.edu	37	chrX	79945312	79945312	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttctgctttaattttattAtaagtatccagtatatcagt	11	20	4	6	0	3	0	1	0	2	0	4	0	4	0	1	0	1	3	1	0	7	10			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chrX:79945312A>G	ENST00000373275.4	-	33	3978	c.3762T>C	c.(3760-3762)taT>taC	p.Y1254Y	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1254					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					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						TAATTTTATTATAAGTATCCA	0.289																																						ENST00000373275.4																			0				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						c.(3760-3762)taT>taC		bromodomain and WD repeat domain containing 3							103	82	89					X																	79945312		2201	4297	6498	SO:0001819	synonymous_variant	254065							g.chrX:79945312A>G		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3762T>C	X.37:g.79945312A>G						BRWD3_ENST00000473691.1_5'UTR	p.Y1254Y	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			33	3978	-			1254					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.3762T>C	CCDS14447.1																																																																																				0.289	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		3	11	0	0	0	1	0	3	11					G	79945312	A	G	79945312	2	3	485	1	0	0	0	0	0	0	0	1	1526	456	16	4		4	BRWD3	23	79945312	Silent	SNP	A	TCGA-ZG-A9L6-01A-11D-A41K-08		79945312	75325248	45	32414											
RNF207	388591	broad.mit.edu	37	chr1	6279431	6279431	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agatccaaacagaaaaatggGggcgatgtccccacatggag	15	5	12	9	1	0	2	0	0	0	2	2	4	2	3	3	3	1	0	3	3	3	0			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:6279431G>C	ENST00000377939.4	+	18	1996	c.1869G>C	c.(1867-1869)ggG>ggC	p.G623G	RNF207_ENST00000377948.2_3'UTR|ICMT_ENST00000495791.1_5'Flank	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	623						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AGAAAAATGGGGGCGATGTCC	0.532																																						ENST00000377939.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16						c.(1867-1869)ggG>ggC		ring finger protein 207							44	46	45					1																	6279431		1879	4105	5984	SO:0001819	synonymous_variant	388591					intracellular	zinc ion binding	g.chr1:6279431G>C	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"RING-type (C3HC4) zinc fingers"	32947	protein-coding gene	gene with protein product	"OTTHUMG00000001089"		"chromosome 1 open reading frame 188"	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.1869G>C	1.37:g.6279431G>C						RNF207_ENST00000377948.2_3'UTR	p.G623G	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN		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)	18	1996	+	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)	623					A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Silent	SNP	ENST00000377939.4	37	c.1869G>C	CCDS59.2																																																																																				0.532	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396		8	19	0	0	0	1	0	8	19					C	6279431	G	C	6279431	2	2	486	1	0	0	0	0	0	0	0	1	13474	1219	43	5		5	RNF207	1	6279431	Silent	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08		6279431	242971190	1	32415											
CD2	914	broad.mit.edu	37	chr1	117303203	117303203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaaaattcaagtgcacaGcagggaacaaagtcagcaag	17	5	11	8	0	2	0	2	0	0	0	2	1	2	1	0	1	5	4	0	1	6	1			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:117303203G>T	ENST00000369478.3	+	3	670	c.562G>T	c.(562-564)Gca>Tca	p.A188S		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	188	Ig-like C2-type.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CAAGTGCACAGCAGGGAACAA	0.507																																					NSCLC(14;263 555 26380 43512 51332)	ENST00000369478.3																			0				NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18						c.(562-564)Gca>Tca		CD2 molecule	Alefacept(DB00092)						103	92	96					1																	117303203		2203	4300	6503	SO:0001583	missense	914				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	g.chr1:117303203G>T	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1639	protein-coding gene	gene with protein product		186990	"CD2 antigen (p50), sheep red blood cell receptor"	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.562G>T	1.37:g.117303203G>T	ENSP00000358490:p.Ala188Ser						p.A188S	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN		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)	3	670	+	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)	188			Ig-like C2-type.		Q96TE5	Missense_Mutation	SNP	ENST00000369478.3	37	c.562G>T	CCDS889.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197971	0.58126	.	.	ENSG00000116824	ENST00000369478	T	0.33654	1.4	5.13	4.21	0.49690	Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.146941	0.46145	D	0.000315	T	0.40322	0.1112	L	0.54323	1.7	0.27403	N	0.954802	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.24584	-1.0156	10	0.72032	D	0.01	-27.3579	11.1592	0.48505	0.0:0.0:0.8162:0.1838	.	188;188	B4DVN2;P06729	.;CD2_HUMAN	S	188	ENSP00000358490:A188S	ENSP00000358490:A188S	A	+	1	0	CD2	117104726	0.034000	0.19679	0.064000	0.19789	0.003000	0.03518	1.700000	0.37815	1.513000	0.48852	0.655000	0.94253	GCA		0.507	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		3	43	1	0	0.00024832	1	0.000256597	3	43					T	117303203	G	T	117303203	3	4	486	1	0	0	0	0	1	0	0	0	2979	971	34	5	572	5	CD2	1	117303203	Missense_Mutation	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08	111023772	117303203	131947418	2	32416											
ASTN1	460	broad.mit.edu	37	chr1	177001904	177001904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctggggctgcgggacccGgcggcgtttgcaccagcgcc	3	7	16	15	5	1	0	0	0	1	0	1	1	1	1	3	5	3	3	3	5	0	2			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:177001904G>A	ENST00000367654.3	-	3	764	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	ASTN1_ENST00000424564.2_Missense_Mutation_p.R185W|ASTN1_ENST00000367657.3_Missense_Mutation_p.R185W|ASTN1_ENST00000361833.2_Missense_Mutation_p.R185W|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	185					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGCGGGACCCGGCGGCGTTTG	0.612																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(553-555)Cgg>Tgg		astrotactin 1							38	39	39					1																	177001904		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177001904G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.553C>T	1.37:g.177001904G>A	ENSP00000356626:p.Arg185Trp					ASTN1_ENST00000367657.3_Missense_Mutation_p.R185W|ASTN1_ENST00000424564.2_Missense_Mutation_p.R185W|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.R185W	p.R185W			O14525	ASTN1_HUMAN			3	566	-			185					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.553C>T		.	.	.	.	.	.	.	.	.	.	G	22.9	4.343933	0.82022	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.25749	1.78;2.19;2.19;1.79	5.52	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.44095	0.1277	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.996	T	0.42189	-0.9466	10	0.87932	D	0	-12.585	15.4989	0.75680	0.0:0.0:0.8603:0.1397	.	185;185;185	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	W	185	ENSP00000356629:R185W;ENSP00000354536:R185W;ENSP00000356626:R185W;ENSP00000395041:R185W	ENSP00000354536:R185W	R	-	1	2	ASTN1	175268527	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.614000	0.74197	1.305000	0.44909	-0.152000	0.13540	CGG		0.612	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		7	38	0	0	0	1	0	7	38					A	177001904	G	A	177001904	3	1	486	1	0	0	0	0	1	0	0	0	1064	1115	39	2	3419	2	ASTN1	1	177001904	Missense_Mutation	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08	59698701	177001904	72248717	3	32417											
CACNA1E	777	broad.mit.edu	37	chr1	181741295	181741295	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgcaccatcagggcagaaCgagaacgaacgctgcggcac	13	2	12	14	5	1	2	1	0	0	2	1	4	1	2	2	2	4	4	2	2	3	0	rs377382446		TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:181741295C>T	ENST00000367573.2	+	37	5067	c.5067C>T	c.(5065-5067)aaC>aaT	p.N1689N	CACNA1E_ENST00000526775.1_Silent_p.N1670N|CACNA1E_ENST00000357570.5_Silent_p.N1640N|CACNA1E_ENST00000367567.4_Silent_p.N1296N|CACNA1E_ENST00000367570.1_Silent_p.N1689N|CACNA1E_ENST00000360108.3_Silent_p.N1670N|CACNA1E_ENST00000358338.5_Silent_p.N1621N|RNA5SP70_ENST00000517168.1_RNA	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1689					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			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						CAGGGCAGAACGAGAACGAAC	0.562																																						ENST00000526775.1																			0				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						c.(5008-5010)aaC>aaT		calcium channel, voltage-dependent, R type, alpha 1E subunit		C	,,	1,4377	2.1+/-5.4	0,1,2188	186	188	188		5067,5067,5010	-5.3	0.1	1		188	0,8570		0,0,4285	no	coding-synonymous,coding-synonymous,coding-synonymous	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	,,	0,1,6473	TT,TC,CC		0.0,0.0228,0.0077	,,	1689/2271,1689/2314,1670/2252	181741295	1,12947	2189	4285	6474	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181741295C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5067C>T	1.37:g.181741295C>T						CACNA1E_ENST00000358338.5_Silent_p.N1621N|CACNA1E_ENST00000367570.1_Silent_p.N1689N|CACNA1E_ENST00000360108.3_Silent_p.N1670N|CACNA1E_ENST00000367573.2_Silent_p.N1689N|CACNA1E_ENST00000367567.4_Silent_p.N1296N|CACNA1E_ENST00000357570.5_Silent_p.N1640N	p.N1670N	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			36	5175	+			1689					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.5010C>T	CCDS55664.1																																																																																				0.562	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		33	65	0	0	0	1	0	33	65					T	181741295	C	T	181741295	2	4	486	1	0	0	0	0	0	0	0	1	2542	535	19	1		1	CACNA1E	1	181741295	Silent	SNP	C	TCGA-ZG-A9L9-01A-11D-A41K-08	4739391	181741295	67509326	4	32418											
RYR2	6262	broad.mit.edu	37	chr1	237947648	237947648	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctcggagtcggacttgaaCgagaggtcagcgaataagga	13	7	14	7	4	2	2	1	1	1	1	4	7	2	5	0	4	2	0	0	4	3	2			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:237947648C>T	ENST00000366574.2	+	90	12953	c.12636C>T	c.(12634-12636)aaC>aaT	p.N4212N	RYR2_ENST00000360064.6_Silent_p.N4218N|RYR2_ENST00000542537.1_Silent_p.N4196N|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4212					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGGACTTGAACGAGAGGTCAG	0.542																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12634-12636)aaC>aaT		ryanodine receptor 2 (cardiac)							71	76	75					1																	237947648		2011	4187	6198	SO:0001819	synonymous_variant	6262				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	g.chr1:237947648C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12636C>T	1.37:g.237947648C>T						RYR2_ENST00000360064.6_Silent_p.N4218N|RYR2_ENST00000542537.1_Silent_p.N4196N	p.N4212N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12953	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4212					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.12636C>T	CCDS55691.1																																																																																				0.542	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		22	38	0	0	0	1	0	22	38					T	237947648	C	T	237947648	2	4	486	1	0	0	0	0	0	0	0	1	13769	535	19	1		1	RYR2	1	237947648	Silent	SNP	C	TCGA-ZG-A9L9-01A-11D-A41K-08	56206353	237947648	11302973	5	32419											
OR2T12	127064	broad.mit.edu	37	chr1	248457988	248457988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccccagccaccgtttcaggGcttccttgacctcactgttc	5	12	7	17	1	2	1	2	1	0	0	5	1	4	1	6	1	1	3	6	1	0	4			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:248457988G>A	ENST00000317996.1	-	1	892	c.893C>T	c.(892-894)gCc>gTc	p.A298V		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CCGTTTCAGGGCTTCCTTGAC	0.468																																						ENST00000317996.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(892-894)gCc>gTc		olfactory receptor, family 2, subfamily T, member 12							166	161	163					1																	248457988		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248457988G>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.893C>T	1.37:g.248457988G>A	ENSP00000324583:p.Ala298Val						p.A298V	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	892	-	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)		298						Missense_Mutation	SNP	ENST00000317996.1	37	c.893C>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	g	13.78	2.339717	0.41398	.	.	ENSG00000177201	ENST00000317996	T	0.44881	0.91	1.71	1.71	0.24356	.	0.000000	0.31123	U	0.008203	T	0.51415	0.1673	L	0.48642	1.525	0.09310	N	1	D	0.71674	0.998	D	0.66602	0.945	T	0.40515	-0.9559	10	0.66056	D	0.02	.	10.9522	0.47336	0.0:0.0:1.0:0.0	.	298	Q8NG77	O2T12_HUMAN	V	298	ENSP00000324583:A298V	ENSP00000324583:A298V	A	-	2	0	OR2T12	246524611	0.008000	0.16893	0.005000	0.12908	0.072000	0.16883	1.333000	0.33816	0.754000	0.32968	0.418000	0.28097	GCC		0.468	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		63	94	0	0	0	1	0	63	94					A	248457988	G	A	248457988	3	1	486	1	0	0	0	0	1	0	0	0	11019	1203	42	3	72	3	OR2T12	1	248457988	Missense_Mutation	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08	10510340	248457988	792633	6	32420											
IL1F5	26525	broad.mit.edu	37	chr2	113818430	113818430	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccttcctgatgtttcagaAtgaaggactcggcattgaag	10	11	10	10	1	1	4	1	3	0	1	3	5	2	5	3	2	0	2	3	2	3	3			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr2:113818430A>G	ENST00000393200.2	+	3	192	c.31A>G	c.(31-33)Atg>Gtg	p.M11V	IL36RN_ENST00000346807.3_Splice_Site_p.M11V	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	11					antifungal humoral response (GO:0019732)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of interferon-gamma secretion (GO:1902714)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)	extracellular space (GO:0005615)	interleukin-1 receptor antagonist activity (GO:0005152)			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						ATGTTTCAGAATGAAGGACTC	0.493																																						ENST00000393200.2																			0				large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.e3-1		interleukin 36 receptor antagonist							112	97	102					2																	113818430		2203	4300	6503	SO:0001630	splice_region_variant	26525					extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113818430A>G	AF201830	CCDS2111.1	2q14	2014-09-17	2011-06-06	2011-06-06	ENSG00000136695	ENSG00000136695		"Interleukins and interleukin receptors"	15561	protein-coding gene	gene with protein product	"family of interleukin 1-delta", "interleukin-1 receptor antagonist homolog 1", "interleukin-1 HY1", "IL-1 related protein 3"	605507	"interleukin 1 family, member 5 (delta)"	IL1F5		10625660, 10512743, 11574262	Standard	NM_012275		Approved	FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL1L1, IL-1F5, IL36RA, MGC29840	uc002tit.3	Q9UBH0	OTTHUMG00000131337	ENST00000393200.2:c.30-1A>G	2.37:g.113818430A>G						IL36RN_ENST00000346807.3_Splice_Site_p.M11_splice	p.M11_splice	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN			3	192	+			11					A8K2I4|Q56AT9|Q7RTZ6	Splice_Site	SNP	ENST00000393200.2	37	c.29_splice	CCDS2111.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.592477	0.46214	.	.	ENSG00000136695	ENST00000346807;ENST00000393200;ENST00000437409	T;T;T	0.74737	-0.87;-0.87;-0.87	4.9	4.9	0.64082	.	0.222293	0.48767	D	0.000169	T	0.73598	0.3607	N	0.16233	0.39	0.35630	D	0.810108	D	0.59767	0.986	D	0.65573	0.936	T	0.81002	-0.1130	10	0.72032	D	0.01	-22.3206	11.1003	0.48170	1.0:0.0:0.0:0.0	.	11	Q9UBH0	I36RA_HUMAN	V	11	ENSP00000259212:M11V;ENSP00000376896:M11V;ENSP00000409262:M11V	ENSP00000259212:M11V	M	+	1	0	IL36RN	113534901	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.753000	0.55180	2.198000	0.70561	0.533000	0.62120	ATG		0.493	IL36RN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330729.1	NM_173170	Missense_Mutation	17	16	0	0	0	1	0	17	16					G	113818430	A	G	113818430	5	3	486	1	0	0	0	0	0	0	1	0	7653	115	4	4	37	4	IL1F5	2	113818430	Splice_Site	SNP	A	TCGA-ZG-A9L9-01A-11D-A41K-08		113818430	129380943	7	32421											
ZEB2	9839	broad.mit.edu	37	chr2	145147439	145147439	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagtaggaatacctgtgaTtcatgtgctgcgagtacgag	10	11	13	7	2	1	1	1	1	0	0	1	4	1	2	1	1	5	4	1	1	4	4			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr2:145147439T>C	ENST00000558170.2	-	10	4408	c.3224A>G	c.(3223-3225)aAt>aGt	p.N1075S	ZEB2_ENST00000409487.3_Missense_Mutation_p.N1075S|ZEB2_ENST00000303660.4_Missense_Mutation_p.N1075S|ZEB2_ENST00000539609.3_Missense_Mutation_p.N1051S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1075					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATACCTGTGATTCATGTGCTG	0.597																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(3223-3225)aAt>aGt		zinc finger E-box binding homeobox 2							57	55	56					2																	145147439		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145147439T>C	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3224A>G	2.37:g.145147439T>C	ENSP00000454157:p.Asn1075Ser					ZEB2_ENST00000539609.3_Missense_Mutation_p.N1051S|ZEB2_ENST00000409487.3_Missense_Mutation_p.N1075S|ZEB2_ENST00000303660.4_Missense_Mutation_p.N1075S	p.N1075S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	4408	-			1075					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.3224A>G	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.883154	0.91740	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.07327	3.2;3.2;3.2	5.51	5.51	0.81932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.29256	0.0728	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.993	D;D;D	0.87578	0.998;0.956;0.956	T	0.01252	-1.1405	10	0.72032	D	0.01	-15.4173	15.9314	0.79663	0.0:0.0:0.0:1.0	.	1051;1074;1075	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	S	1051;1075;1075	ENSP00000443792:N1051S;ENSP00000302501:N1075S;ENSP00000386854:N1075S	ENSP00000302501:N1075S	N	-	2	0	ZEB2	144863909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.217000	0.71921	0.482000	0.46254	AAT		0.597	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		31	41	0	0	0	1	0	31	41					C	145147439	T	C	145147439	3	2	486	1	0	0	0	0	1	0	0	0	17621	1493	52	4	424	4	ZEB2	2	145147439	Missense_Mutation	SNP	T	TCGA-ZG-A9L9-01A-11D-A41K-08	31329009	145147439	98051934	8	32422											
ABCB11	8647	broad.mit.edu	37	chr2	169783826	169783826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacaattccaatgtttgagCggaggaactggacatttact	14	11	9	7	1	0	1	0	1	0	0	1	4	1	4	1	3	4	1	1	3	5	4			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr2:169783826C>T	ENST00000263817.6	-	26	3582	c.3458G>A	c.(3457-3459)cGc>cAc	p.R1153H		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1153	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> C (in PFIC2). {ECO:0000269|PubMed:9806540}.		bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AATGTTTGAGCGGAGGAACTG	0.413																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57	GRCh37	CM081495	ABCB11	M		c.(3457-3459)cGc>cAc		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						117	107	110					2																	169783826		1882	4134	6016	SO:0001583	missense	8647				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	g.chr2:169783826C>T	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3458G>A	2.37:g.169783826C>T	ENSP00000263817:p.Arg1153His						p.R1153H	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			26	3582	-			1153		R -> C (in PFIC2).	ABC transporter 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.3458G>A	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197994	0.79015	.	.	ENSG00000073734	ENST00000263817	D	0.94793	-3.52	5.72	5.72	0.89469	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97167	0.9074	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97468	1.0039	10	0.87932	D	0	.	18.8517	0.92235	0.0:1.0:0.0:0.0	.	1153	O95342	ABCBB_HUMAN	H	1153	ENSP00000263817:R1153H	ENSP00000263817:R1153H	R	-	2	0	ABCB11	169492072	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	7.792000	0.85828	2.694000	0.91930	0.655000	0.94253	CGC		0.413	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		18	31	0	0	0	1	0	18	31					T	169783826	C	T	169783826	3	4	486	1	0	0	0	0	1	0	0	0	42	768	27	1	519	1	ABCB11	2	169783826	Missense_Mutation	SNP	C	TCGA-ZG-A9L9-01A-11D-A41K-08	24636387	169783826	73415547	9	32423											
ATG4B	23192	broad.mit.edu	37	chr2	242607594	242607594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagtccctgggcgtcatcGgagggaagcccaacagcgcc	8	4	13	16	3	1	0	1	0	0	0	3	2	2	2	4	3	3	0	4	3	2	0			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr2:242607594G>A	ENST00000404914.3	+	9	872	c.769G>A	c.(769-771)Gga>Aga	p.G257R	ATG4B_ENST00000402096.1_Missense_Mutation_p.G183R|ATG4B_ENST00000396411.3_Missense_Mutation_p.G183R|ATG4B_ENST00000405546.3_Missense_Mutation_p.G257R|ATG4B_ENST00000474739.2_Missense_Mutation_p.G243R	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	257					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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)		GGGCGTCATCGGAGGGAAGCC	0.642																																					Melanoma(78;458 1323 6342 12171 39523)	ENST00000405546.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(769-771)Gga>Aga		autophagy related 4B, cysteine peptidase							53	64	61					2																	242607594		2013	4142	6155	SO:0001583	missense	23192				autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	g.chr2:242607594G>A	AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"APG4 autophagy 4 homolog B (S. cerevisiae)", "ATG4 autophagy related 4 homolog B (S. cerevisiae)"	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.769G>A	2.37:g.242607594G>A	ENSP00000384259:p.Gly257Arg					ATG4B_ENST00000474739.2_Missense_Mutation_p.G243R|ATG4B_ENST00000396411.3_Missense_Mutation_p.G183R|ATG4B_ENST00000404914.3_Missense_Mutation_p.G257R|ATG4B_ENST00000402096.1_Missense_Mutation_p.G183R	p.G257R			Q9Y4P1	ATG4B_HUMAN		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)	9	1271	+		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)	257					B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Missense_Mutation	SNP	ENST00000404914.3	37	c.769G>A	CCDS46564.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284732	0.95517	.	.	ENSG00000168397	ENST00000405546;ENST00000337606;ENST00000402096;ENST00000404914;ENST00000474739;ENST00000396411;ENST00000400771;ENST00000311517;ENST00000428861	T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89417	0.6709	H	0.98089	4.145	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.999	D	0.92997	0.6420	10	0.87932	D	0	-14.5803	19.5533	0.95330	0.0:0.0:1.0:0.0	.	243;374;345;257;183	F5H7P2;B4DZK0;Q9Y4P1-2;Q9Y4P1;Q9Y4P1-4	.;.;.;ATG4B_HUMAN;.	R	257;374;183;257;243;183;206;183;94	ENSP00000383964:G257R;ENSP00000384661:G183R;ENSP00000384259:G257R;ENSP00000442378:G243R;ENSP00000379692:G183R;ENSP00000383582:G206R;ENSP00000404783:G94R	ENSP00000309348:G183R	G	+	1	0	ATG4B	242256267	1.000000	0.71417	0.989000	0.46669	0.933000	0.57130	8.793000	0.91862	2.639000	0.89480	0.491000	0.48974	GGA		0.642	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322967.3	NM_013325		4	16	0	0	0	1	0	4	16					A	242607594	G	A	242607594	3	1	486	1	0	0	0	0	1	0	0	0	1097	1117	39	2	803	2	ATG4B	2	242607594	Missense_Mutation	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08	72823768	242607594	591779	10	32424											
XCR1	2829	broad.mit.edu	37	chr3	46063378	46063378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaggcctggttctcacacGgctggctctgaaggtcatag	7	9	12	13	1	3	1	2	1	2	0	4	1	3	1	2	5	0	3	2	5	2	2			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr3:46063378G>A	ENST00000309285.3	-	2	418	c.62C>T	c.(61-63)cCg>cTg	p.P21L	XCR1_ENST00000542109.1_Missense_Mutation_p.P21L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	21					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTTCTCACACGGCTGGCTCTG	0.552																																						ENST00000309285.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14						c.(61-63)cCg>cTg		chemokine (C motif) receptor 1							78	80	79					3																	46063378		2203	4300	6503	SO:0001583	missense	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46063378G>A		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"GPCR / Class A : Chemokine receptors : X-C motif"	1625	protein-coding gene	gene with protein product		600552	"chemokine (C motif) XC receptor 1"	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.62C>T	3.37:g.46063378G>A	ENSP00000310405:p.Pro21Leu					XCR1_ENST00000542109.1_Missense_Mutation_p.P21L	p.P21L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	418	-			21						Missense_Mutation	SNP	ENST00000309285.3	37	c.62C>T	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.271567	0.00257	.	.	ENSG00000173578	ENST00000309285;ENST00000542109;ENST00000395946	T;T	0.67523	-0.27;-0.27	5.03	2.58	0.30949	.	1.364650	0.05708	N	0.595466	T	0.43456	0.1248	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.26916	-1.0089	10	0.24483	T	0.36	.	3.3904	0.07287	0.6493:0.0:0.1824:0.1682	.	21	P46094	XCR1_HUMAN	L	21	ENSP00000310405:P21L;ENSP00000438119:P21L	ENSP00000310405:P21L	P	-	2	0	XCR1	46038382	0.021000	0.18746	0.196000	0.23383	0.002000	0.02628	1.001000	0.29783	0.257000	0.21650	-1.144000	0.01866	CCG		0.552	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			28	33	0	0	0	1	0	28	33					A	46063378	G	A	46063378	3	1	486	1	0	0	0	0	1	0	0	0	17422	1116	39	2	943	2	XCR1	3	46063378	Missense_Mutation	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08		46063378	151959052	11	32425											
KLHDC8B	200942	broad.mit.edu	37	chr3	49211747	49211747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacgtgtgtatgagccccGtcgggactgctggctttcgc	4	11	15	11	4	0	1	0	1	0	0	2	2	0	2	2	3	3	4	2	3	2	3			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr3:49211747G>A	ENST00000332780.2	+	3	661	c.452G>A	c.(451-453)cGt>cAt	p.R151H	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	151						cytoplasm (GO:0005737)				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)		TATGAGCCCCGTCGGGACTGC	0.592																																						ENST00000332780.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7						c.(451-453)cGt>cAt		kelch domain containing 8B							98	91	94					3																	49211747		2203	4300	6503	SO:0001583	missense	200942					cytoplasm		g.chr3:49211747G>A		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.452G>A	3.37:g.49211747G>A	ENSP00000327468:p.Arg151His					KLHDC8B_ENST00000476495.2_3'UTR	p.R151H	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	3	661	+			151						Missense_Mutation	SNP	ENST00000332780.2	37	c.452G>A	CCDS2791.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616634	0.66672	.	.	ENSG00000185909	ENST00000332780	T	0.79033	-1.23	5.53	3.7	0.42460	Kelch-type beta propeller (1);	0.348813	0.26765	N	0.022620	T	0.70727	0.3257	L	0.27053	0.805	0.09310	N	0.999994	D	0.62365	0.991	P	0.51833	0.681	T	0.61802	-0.6988	10	0.46703	T	0.11	-31.311	7.7601	0.28946	0.0995:0.3537:0.5469:0.0	.	151	Q8IXV7	KLD8B_HUMAN	H	151	ENSP00000327468:R151H	ENSP00000327468:R151H	R	+	2	0	KLHDC8B	49186751	0.586000	0.26782	0.975000	0.42487	0.995000	0.86356	2.118000	0.41949	1.327000	0.45338	0.655000	0.94253	CGT		0.592	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		4	88	0	0	0	1	0	4	88					A	49211747	G	A	49211747	3	1	486	1	0	0	0	0	1	0	0	0	8363	1145	40	1	458	1	KLHDC8B	3	49211747	Missense_Mutation	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08	3148369	49211747	148810683	12	32426											
PLS1	5357	broad.mit.edu	37	chr3	142416908	142416908	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttggagggaacatgaagaAggtgaatgaaataatggcca	16	7	13	5	0	0	4	0	3	0	1	0	6	0	6	2	4	1	0	2	4	6	2			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr3:142416908A>G	ENST00000337777.3	+	12	1583	c.1370A>G	c.(1369-1371)aAg>aGg	p.K457R	PLS1_ENST00000497002.1_Splice_Site_p.K457R|PLS1_ENST00000457734.2_Splice_Site_p.K457R	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	457	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AACATGAAGAAGGTGAATGAA	0.408																																						ENST00000337777.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.e12+1		plastin 1							81	74	76					3																	142416908		2203	4300	6503	SO:0001630	splice_region_variant	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142416908A>G	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1371+1A>G	3.37:g.142416908A>G						PLS1_ENST00000497002.1_Splice_Site_p.K457_splice|PLS1_ENST00000457734.2_Splice_Site_p.K457_splice	p.K457_splice	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN			12	1583	+			457			Actin-binding 2.|CH 3.		A8K2Q1|D3DNG3|Q8NEG6	Splice_Site	SNP	ENST00000337777.3	37	c.1371_splice	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829999	0.71258	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	D;D;D	0.95001	-3.58;-3.58;-3.58	5.86	4.69	0.59074	Calponin homology domain (5);	0.084638	0.85682	D	0.000000	D	0.96109	0.8732	M	0.72894	2.215	0.80722	D	1	D	0.61697	0.99	P	0.61397	0.888	D	0.95857	0.8880	10	0.87932	D	0	-24.4136	12.466	0.55759	0.8745:0.0:0.0:0.1255	.	457	Q14651	PLSI_HUMAN	R	457	ENSP00000387890:K457R;ENSP00000336831:K457R;ENSP00000418700:K457R	ENSP00000336831:K457R	K	+	2	0	PLS1	143899598	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	9.339000	0.96797	1.027000	0.39758	-0.327000	0.08410	AAG		0.408	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670	Missense_Mutation	14	19	0	0	0	1	0	14	19					G	142416908	A	G	142416908	5	3	486	1	0	0	0	0	0	0	1	0	12107	86	3	4	1412	4	PLS1	3	142416908	Splice_Site	SNP	A	TCGA-ZG-A9L9-01A-11D-A41K-08	93205161	142416908	55605522	13	32427											
EIF4G1	1981	broad.mit.edu	37	chr3	184043642	184043642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctttttgtgtcaggccGtggacttccccttgtggatg	3	15	11	12	1	2	0	1	0	1	0	3	2	3	2	4	3	0	0	4	3	0	4	rs201567302		TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr3:184043642G>A	ENST00000346169.2	+	21	3396	c.3125G>A	c.(3124-3126)cGt>cAt	p.R1042H	EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1049H|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R956H|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R1043H|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R879H|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1002H|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R955H|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1049H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1042H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R847H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1049H|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R878H|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1003H|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R846H|SNORD66_ENST00000390856.1_RNA	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1042	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGTCAGGCCGTGGACTTCCC	0.542																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3127-3129)cGt>cAt		eukaryotic translation initiation factor 4 gamma, 1							214	211	212					3																	184043642		2203	4300	6503	SO:0001583	missense	1981				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	g.chr3:184043642G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3125G>A	3.37:g.184043642G>A	ENSP00000316879:p.Arg1042His					EIF4G1_ENST00000350481.5_Missense_Mutation_p.R878H|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R956H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R847H|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R879H|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1002H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1042H|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R955H|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R846H|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1049H|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1049H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R1042H|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1049H|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1003H	p.R1043H	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		20	3542	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1042			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.3128G>A	CCDS3259.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.3|29.3	4.996648|4.996648	0.93167|0.93167	.|.	.|.	ENSG00000114867|ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046|ENST00000448284	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.05513|.	3.68;3.66;3.59;3.68;3.45;3.68;3.59;3.68;3.68;3.68;3.67;3.45;3.43;3.43|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.232862|.	0.43919|.	D|.	0.000506|.	T|T	0.78071|0.78071	0.4226|0.4226	M|M	0.80746|0.80746	2.51|2.51	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.76494|.	0.999;0.998;0.998|.	P;P;P|.	0.56163|.	0.793;0.793;0.793|.	T|T	0.78368|0.78368	-0.2231|-0.2231	10|5	0.66056|.	D|.	0.02|.	-5.9169|-5.9169	17.1541|17.1541	0.86785|0.86785	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1049;1043;1042|.	E9PFM1;D3DNT2;Q04637|.	.;.;IF4G1_HUMAN|.	H|M	1042;1002;955;1049;878;1049;956;1043;1042;1049;1003;879;847;846|94	ENSP00000316879:R1042H;ENSP00000391935:R1002H;ENSP00000376320:R955H;ENSP00000371767:R1049H;ENSP00000317600:R878H;ENSP00000338020:R1049H;ENSP00000407682:R956H;ENSP00000343450:R1043H;ENSP00000323737:R1042H;ENSP00000416255:R1049H;ENSP00000395974:R1003H;ENSP00000399858:R879H;ENSP00000411826:R847H;ENSP00000404754:R846H|.	ENSP00000323737:R1042H|.	R|V	+|+	2|1	0|0	EIF4G1|EIF4G1	185526336|185526336	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	7.319000|7.319000	0.79040|0.79040	2.733000|2.733000	0.93635|0.93635	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.542	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		4	309	0	0	0	1	0	4	309					A	184043642	G	A	184043642	3	1	486	1	0	0	0	0	1	0	0	0	5036	1145	40	1	3199	1	EIF4G1	3	184043642	Missense_Mutation	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08	41626734	184043642	13978788	14	32428											
OSTalpha	200931	broad.mit.edu	37	chr3	195953981	195953981	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actctgctctggaagagctcGgcacccacggtgaggccccc	7	6	12	16	2	2	2	0	1	2	1	3	3	2	3	3	4	2	3	3	4	1	0			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr3:195953981G>A	ENST00000296327.5	+	3	488	c.279G>A	c.(277-279)tcG>tcA	p.S93S		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	93					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	GGAAGAGCTCGGCACCCACGG	0.597																																						ENST00000296327.5																			0											c.(277-279)tcG>tcA		solute carrier family 51, alpha subunit							68	64	65					3																	195953981		2203	4300	6503	SO:0001819	synonymous_variant	200931							g.chr3:195953981G>A		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"Solute carriers"	29955	protein-coding gene	gene with protein product	"organic solute transporter, alpha subunit"	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.279G>A	3.37:g.195953981G>A							p.S93S	NM_152672.5	NP_689885.4					3	488	+								Q6ZMC7	Silent	SNP	ENST00000296327.5	37	c.279G>A	CCDS3314.1	.	.	.	.	.	.	.	.	.	.	G	1.438	-0.568465	0.03910	.	.	ENSG00000163959	ENST00000428985	.	.	.	5.86	2.2	0.27929	.	.	.	.	.	T	0.43634	0.1256	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26608	-1.0098	4	.	.	.	.	1.9962	0.03457	0.3833:0.0751:0.1328:0.4088	.	.	.	.	Q	64	.	.	R	+	2	0	AC069257.9	197438378	0.977000	0.34250	1.000000	0.80357	0.090000	0.18270	-0.085000	0.11250	0.474000	0.27392	-1.631000	0.00782	CGG		0.597	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		5	63	0	0	0	1	0	5	63					A	195953981	G	A	195953981	2	1	486	1	0	0	0	0	0	0	0	1	11300	1103	39	2		2	OSTalpha	3	195953981	Silent	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08	11910339	195953981	2068449	15	32429											
DRD5	1816	broad.mit.edu	37	chr4	9783962	9783962	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggcagtcgccgaggtGgccggttactggccctttgg	5	9	17	10	3	0	0	0	0	0	0	1	2	0	1	3	7	1	2	3	7	2	2			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr4:9783962G>T	ENST00000304374.2	+	1	705	c.309G>T	c.(307-309)gtG>gtT	p.V103V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	103					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.V103V(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCGCCGAGGTGGCCGGTTACT	0.612																																						ENST00000304374.2																			1	Substitution - coding silent(1)	p.V103V(1)	kidney(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(307-309)gtG>gtT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						51	49	49					4																	9783962		2203	4300	6503	SO:0001819	synonymous_variant	0				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		g.chr4:9783962G>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.309G>T	4.37:g.9783962G>T							p.V103V	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	705	+			103					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.309G>T	CCDS3405.1																																																																																				0.612	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			3	34	1	0	3.59834e-05	1	3.8465e-05	3	34					T	9783962	G	T	9783962	2	4	486	1	0	0	0	0	0	0	0	1	4760	1335	47	5		5	DRD5	4	9783962	Silent	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08		9783962	181370314	16	32430											
GPR125	166647	broad.mit.edu	37	chr4	22389867	22389867	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtccattgaatgttctgTcagactattatcaagctgag	11	15	8	7	0	3	3	2	2	1	1	4	3	4	3	1	0	1	2	1	0	4	5	rs143592195	byFrequency	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr4:22389867T>C	ENST00000334304.5	-	19	3696	c.3427A>G	c.(3427-3429)Aca>Gca	p.T1143A	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1143					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			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)				GAATGTTCTGTCAGACTATTA	0.453																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(3427-3429)Aca>Gca		G protein-coupled receptor 125							75	80	79					4																	22389867		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22389867T>C	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3427A>G	4.37:g.22389867T>C	ENSP00000334952:p.Thr1143Ala					GPR125_ENST00000282943.5_5'UTR	p.T1143A	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3696	-		Breast(46;0.198)	1143					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.3427A>G	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.118862	0.56505	.	.	ENSG00000152990	ENST00000334304	T	0.54279	0.58	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.62356	0.2421	M	0.62723	1.935	0.80722	D	1	P;D	0.55605	0.875;0.972	P;P	0.53549	0.729;0.675	T	0.60409	-0.7269	10	0.30078	T	0.28	-10.8251	15.8613	0.79021	0.0:0.0:0.0:1.0	.	1000;1143	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	A	1143	ENSP00000334952:T1143A	ENSP00000334952:T1143A	T	-	1	0	GPR125	21998965	1.000000	0.71417	0.777000	0.31699	0.883000	0.51084	7.495000	0.81514	2.131000	0.65755	0.528000	0.53228	ACA		0.453	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			28	46	0	0	0	1	0	28	46					C	22389867	T	C	22389867	3	2	486	1	0	0	0	0	1	0	0	0	6639	1667	58	4	542	4	GPR125	4	22389867	Missense_Mutation	SNP	T	TCGA-ZG-A9L9-01A-11D-A41K-08	12605905	22389867	168764409	17	32431											
AFM	173	broad.mit.edu	37	chr4	74365745	74365745	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttagtttttggagagttaTgtggagtaaatgaaaatcga	14	15	11	1	1	0	2	0	1	0	1	1	5	0	3	0	2	0	3	0	2	6	6	rs373381900		TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr4:74365745T>C	ENST00000226355.3	+	12	1540	c.1447T>C	c.(1447-1449)Tgt>Cgt	p.C483R		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	483	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGAGAGTTATGTGGAGTAAA	0.378																																						ENST00000226355.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1447-1449)Tgt>Cgt		afamin							132	133	133					4																	74365745		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74365745T>C	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1447T>C	4.37:g.74365745T>C	ENSP00000226355:p.Cys483Arg						p.C483R	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	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)		12	1540	+	Breast(15;0.00102)		483			Albumin 3.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.1447T>C	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.925869	0.52759	.	.	ENSG00000079557	ENST00000226355	D	0.96685	-4.09	5.51	4.33	0.51752	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97502	1.0061	10	0.87932	D	0	.	8.1611	0.31198	0.0:0.0914:0.0:0.9085	.	483	P43652	AFAM_HUMAN	R	483	ENSP00000226355:C483R	ENSP00000226355:C483R	C	+	1	0	AFM	74584609	1.000000	0.71417	0.348000	0.25681	0.767000	0.43475	4.010000	0.57117	0.925000	0.37094	0.460000	0.39030	TGT		0.378	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			25	53	0	0	0	1	0	25	53					C	74365745	T	C	74365745	3	2	486	1	0	0	0	0	1	0	0	0	361	1464	51	4	1493	4	AFM	4	74365745	Missense_Mutation	SNP	T	TCGA-ZG-A9L9-01A-11D-A41K-08	51975878	74365745	116788531	18	32432											
UCP1	7350	broad.mit.edu	37	chr4	141481157	141481157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccaagtcgcaagaaggaagGtaccaacctagaaaagtgca	17	5	10	9	1	0	2	0	0	0	2	2	3	1	3	3	2	3	3	3	2	9	2			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr4:141481157G>T	ENST00000262999.3	-	6	892	c.817C>A	c.(817-819)Cct>Act	p.P273T		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	273					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					AAGAAGGAAGGTACCAACCTA	0.418																																						ENST00000262999.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16						c.(817-819)Cct>Act		uncoupling protein 1 (mitochondrial, proton carrier)							162	127	139					4																	141481157		2203	4300	6503	SO:0001583	missense	7350				brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	g.chr4:141481157G>T	X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"Solute carriers"	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.817C>A	4.37:g.141481157G>T	ENSP00000262999:p.Pro273Thr						p.P273T	NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN			6	892	-	all_hematologic(180;0.162)		273					Q13218|Q4KMZ3|Q68G66	Missense_Mutation	SNP	ENST00000262999.3	37	c.817C>A	CCDS3753.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734368	0.69189	.	.	ENSG00000109424	ENST00000262999	D	0.81908	-1.55	5.17	4.32	0.51571	Mitochondrial carrier domain (2);	0.057578	0.64402	D	0.000001	D	0.90731	0.7091	M	0.89478	3.035	0.48696	D	0.999696	D;D	0.55385	0.971;0.971	P;P	0.59012	0.85;0.85	D	0.92354	0.5892	10	0.87932	D	0	.	14.0401	0.64669	0.0:0.1519:0.8481:0.0	.	272;273	Q4KMT7;P25874	.;UCP1_HUMAN	T	273	ENSP00000262999:P273T	ENSP00000262999:P273T	P	-	1	0	UCP1	141700607	1.000000	0.71417	0.848000	0.33437	0.793000	0.44817	7.392000	0.79840	1.285000	0.44548	0.591000	0.81541	CCT		0.418	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257273.1			13	29	1	0	5.50884e-06	1	5.99207e-06	13	29					T	141481157	G	T	141481157	3	4	486	1	0	0	0	0	1	0	0	0	16927	1261	44	5	108	5	UCP1	4	141481157	Missense_Mutation	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08	67115412	141481157	49673119	19	32433											
PRDM9	56979	broad.mit.edu	37	chr5	23522743	23522743	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgtgagatgtgtcagaacTtcttcattgacagctgtgct	9	15	10	7	0	3	3	2	2	1	2	3	4	3	3	0	0	3	2	0	0	1	4			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr5:23522743T>G	ENST00000296682.3	+	8	813	c.631T>G	c.(631-633)Ttc>Gtc	p.F211V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	211					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTGTCAGAACTTCTTCATTGA	0.498										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(631-633)Ttc>Gtc		PR domain containing 9							50	49	50					5																	23522743		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522743T>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.631T>G	5.37:g.23522743T>G	ENSP00000296682:p.Phe211Val	HNSCC(3;0.000094)					p.F211V	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			8	813	+			211					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.631T>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379751	0.61845	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.41065	1.01	4.28	4.28	0.50868	.	0.000000	0.35772	N	0.003000	T	0.45034	0.1322	M	0.72894	2.215	0.33299	D	0.564575	P	0.47762	0.9	P	0.44518	0.452	T	0.64782	-0.6326	10	0.66056	D	0.02	-17.8803	10.1238	0.42637	0.0:0.0:0.0:1.0	.	211	Q9NQV7	PRDM9_HUMAN	V	211;5	ENSP00000296682:F211V	ENSP00000253473:F5V	F	+	1	0	PRDM9	23558500	0.932000	0.31603	0.991000	0.47740	0.824000	0.46624	1.552000	0.36244	1.700000	0.51204	0.487000	0.48397	TTC		0.498	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		6	28	0	0	0	1	0	6	28					G	23522743	T	G	23522743	3	3	486	1	0	0	0	0	1	0	0	0	12463	1609	56	5	657	5	PRDM9	5	23522743	Missense_Mutation	SNP	T	TCGA-ZG-A9L9-01A-11D-A41K-08		23522743	157392517	20	32434											
UBLCP1	134510	broad.mit.edu	37	chr5	158696047	158696047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacaggagttcttccagaaCgccaaaagttacttggactc	12	11	8	10	1	1	1	0	0	1	1	3	3	2	3	2	2	3	2	2	2	5	5	rs375712033		TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr5:158696047C>T	ENST00000296786.6	+	2	450	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	42	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTCCAGAACGCCAAAAGTT	0.363																																						ENST00000296786.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9						c.(124-126)Cgc>Tgc		ubiquitin-like domain containing CTD phosphatase 1		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	98	93	94		124	6	1	5		94	0,8600		0,0,4300	no	missense	UBLCP1	NM_145049.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	42/319	158696047	1,13005	2203	4300	6503	SO:0001583	missense	134510					nucleus	phosphoprotein phosphatase activity	g.chr5:158696047C>T	AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	28110	protein-coding gene	gene with protein product	"CTD phosphatase-like with ubiquitin domain 1"	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.124C>T	5.37:g.158696047C>T	ENSP00000296786:p.Arg42Cys						p.R42C	NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	450	+	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	42			Ubiquitin-like.		D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	c.124C>T	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612835	0.87258	2.27E-4	0.0	ENSG00000164332	ENST00000296786	T	0.74632	-0.86	6.02	6.02	0.97574	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	D	0.91670	0.7367	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93439	0.6792	10	0.87932	D	0	-5.999	20.547	0.99278	0.0:1.0:0.0:0.0	.	42	Q8WVY7	UBCP1_HUMAN	C	42	ENSP00000296786:R42C	ENSP00000296786:R42C	R	+	1	0	UBLCP1	158628625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.626000	0.61269	2.850000	0.98022	0.650000	0.86243	CGC		0.363	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		9	86	0	0	0	1	0	9	86					T	158696047	C	T	158696047	3	4	486	1	0	0	0	0	1	0	0	0	16888	536	19	1	126	1	UBLCP1	5	158696047	Missense_Mutation	SNP	C	TCGA-ZG-A9L9-01A-11D-A41K-08	135173304	158696047	22219213	21	32435											
ZFP57	4340	broad.mit.edu	37	chr6	29640808	29640808	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacagagggttccagtgatGggtgcctgggtcctggtcac	6	10	16	9	0	1	3	1	2	0	1	3	3	3	3	3	4	1	1	3	4	0	1			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr6:29640808G>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376883.1_Silent_p.P340P|ZFP57_ENST00000488757.1_Silent_p.P360P|ZFP57_ENST00000376881.3_Silent_p.P340P	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TTCCAGTGATGGGTGCCTGGG	0.512																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(1018-1020)ccC>ccA		ZFP57 zinc finger protein							231	247	242					6																	29640808		1235	2541	3776	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29640808G>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640808G>T						ZFP57_ENST00000376881.3_Silent_p.P340P|ZFP57_ENST00000488757.1_Silent_p.P360P	p.P340P			Q9NU63	ZFP57_HUMAN			6	1431	-			276					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	ENST00000376917.3	37	c.1020C>A	CCDS34370.1																																																																																				0.512	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		5	187	1	0	0.00116845	1	0.0011876	5	187					T	29640808	G	T	29640808	1	4	486	0	1	0	0	0	0	0	0	0	17648	1335	47	5		5	ZFP57	6	29640808	IGR	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08		29640808	141474259	22	32436											
TTBK1	84630	broad.mit.edu	37	chr6	43225665	43225665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacgagcacctctacccCgccccagcagaacacccggc	9	3	8	21	3	1	1	0	0	1	1	2	2	2	1	7	1	4	2	7	1	2	1	rs201995632		TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr6:43225665C>T	ENST00000259750.4	+	10	1060	c.977C>T	c.(976-978)cCg>cTg	p.P326L	TTBK1_ENST00000304139.5_Missense_Mutation_p.P275L	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	326					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ACCTCTACCCCGCCCCAGCAG	0.617													C|||	1	0.000199681	0	0	5008	,	,		16023	0.001		0	False		,,,				2504	0					ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(976-978)cCg>cTg		tau tubulin kinase 1							70	65	67					6																	43225665		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43225665C>T	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.977C>T	6.37:g.43225665C>T	ENSP00000259750:p.Pro326Leu					TTBK1_ENST00000304139.5_Missense_Mutation_p.P275L	p.P326L	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		10	1060	+			326					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.977C>T	CCDS34455.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	22.7	4.328579	0.81690	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.52295	0.67	5.35	5.35	0.76521	.	0.108803	0.64402	D	0.000006	T	0.37865	0.1019	L	0.36672	1.1	0.58432	D	0.999997	D	0.63046	0.992	P	0.48063	0.565	T	0.34725	-0.9817	10	0.66056	D	0.02	.	17.8402	0.88713	0.0:1.0:0.0:0.0	.	326	Q5TCY1	TTBK1_HUMAN	L	275;326;275	ENSP00000259750:P326L	ENSP00000259750:P326L	P	+	2	0	TTBK1	43333643	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	4.896000	0.63222	2.526000	0.85167	0.561000	0.74099	CCG		0.617	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			14	42	0	0	0	1	0	14	42					T	43225665	C	T	43225665	3	4	486	1	0	0	0	0	1	0	0	0	16673	652	23	2	1011	2	TTBK1	6	43225665	Missense_Mutation	SNP	C	TCGA-ZG-A9L9-01A-11D-A41K-08	13584857	43225665	127889402	23	32437											
RARS2	57038	broad.mit.edu	37	chr6	88240517	88240517	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataccttgtaaacccgaatGtactcttcaatgctcaagtc	13	12	5	11	1	3	0	2	0	1	0	4	1	3	0	2	0	4	3	2	0	8	5			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr6:88240517G>A	ENST00000369536.5	-	9	801	c.756C>T	c.(754-756)taC>taT	p.Y252Y		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	252					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			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)		AAACCCGAATGTACTCTTCAA	0.473																																						ENST00000369536.5																			0				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						c.(754-756)taC>taT		arginyl-tRNA synthetase 2, mitochondrial							165	143	150					6																	88240517		2203	4300	6503	SO:0001819	synonymous_variant	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88240517G>A	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.756C>T	6.37:g.88240517G>A							p.Y252Y	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	9	801	-		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)	252					B2RDT7|Q96FU5|Q9H8K8	Silent	SNP	ENST00000369536.5	37	c.756C>T	CCDS5011.1																																																																																				0.473	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		23	44	0	0	0	1	0	23	44					A	88240517	G	A	88240517	2	1	486	1	0	0	0	0	0	0	0	1	13059	1372	48	3		3	RARS2	6	88240517	Silent	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08	45014852	88240517	82874550	24	32438											
GAL3ST4	79690	broad.mit.edu	37	chr7	99757654	99757654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctcaggggtagctaggCgctcacattcctcttggtct	6	11	13	11	1	4	0	2	0	2	0	5	1	5	1	1	5	2	4	1	5	2	4	rs144461733		TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr7:99757654C>T	ENST00000360039.4	-	4	1750	c.1358G>A	c.(1357-1359)cGc>cAc	p.R453H	GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R391H|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000423751.1_3'UTR|C7orf43_ENST00000457641.1_5'Flank|C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R453H	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	453					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			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)					GGTAGCTAGGCGCTCACATTC	0.567																																						ENST00000360039.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1357-1359)cGc>cAc		galactose-3-O-sulfotransferase 4		C	HIS/ARG	0,4406		0,0,2203	105	86	92		1358	4.1	1	7	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GAL3ST4	NM_024637.4	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	453/487	99757654	2,13004	2203	4300	6503	SO:0001583	missense	79690				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	g.chr7:99757654C>T	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"Sulfotransferases, membrane-bound"	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1358G>A	7.37:g.99757654C>T	ENSP00000353142:p.Arg453His					GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R453H|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R391H|GAL3ST4_ENST00000423751.1_3'UTR	p.R453H	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN			4	1750	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		453					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.1358G>A	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788178	0.70337	0.0	2.33E-4	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.18960	2.18;2.18;2.18	5.92	4.08	0.47627	.	0.074865	0.52532	U	0.000080	T	0.34803	0.0910	M	0.62723	1.935	0.44104	D	0.996872	D;D	0.89917	1.0;1.0	D;D	0.74674	0.971;0.984	T	0.15780	-1.0425	10	0.27785	T	0.31	-10.3595	4.8682	0.13618	0.1798:0.6608:0.0:0.1595	.	391;453	B4DWL8;Q96RP7	.;G3ST4_HUMAN	H	453;453;391	ENSP00000400451:R453H;ENSP00000353142:R453H;ENSP00000398304:R391H	ENSP00000353142:R453H	R	-	2	0	GAL3ST4	99595590	0.960000	0.32886	1.000000	0.80357	0.790000	0.44656	1.712000	0.37940	1.465000	0.48006	0.561000	0.74099	CGC		0.567	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		21	39	0	0	0	1	0	21	39					T	99757654	C	T	99757654	3	4	486	1	0	0	0	0	1	0	0	0	6200	768	27	1	106	1	GAL3ST4	7	99757654	Missense_Mutation	SNP	C	TCGA-ZG-A9L9-01A-11D-A41K-08		99757654	59381009	25	32439											
DNAJC2	27000	broad.mit.edu	37	chr7	102967014	102967014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aattcctttcaaacactgggGtaaacacttcgaagaaatta	16	11	6	8	1	1	1	1	0	0	1	3	2	2	1	1	2	2	1	1	2	7	5			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr7:102967014G>T	ENST00000379263.3	-	5	798	c.548C>A	c.(547-549)aCc>aAc	p.T183N	DNAJC2_ENST00000249270.7_Missense_Mutation_p.T183N|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	183	ZRF1-UBD.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						AAACACTGGGGTAAACACTTC	0.393																																						ENST00000379263.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(547-549)aCc>aAc		DnaJ (Hsp40) homolog, subfamily C, member 2							106	101	102					7																	102967014		1856	4098	5954	SO:0001583	missense	27000				'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	g.chr7:102967014G>T	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"Heat shock proteins / DNAJ (HSP40)"	13192	protein-coding gene	gene with protein product		605502	"zuotin related factor 1"	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.548C>A	7.37:g.102967014G>T	ENSP00000368565:p.Thr183Asn					PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.T183N	p.T183N	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN			5	798	-			183			ZRF1-UBD.		A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	37	c.548C>A	CCDS43628.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.65|12.65	2.000532|2.000532	0.35320|0.35320	.|.	.|.	ENSG00000105821|ENSG00000105821	ENST00000426036|ENST00000249270;ENST00000379263;ENST00000537811;ENST00000454277	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.425348	.|0.28349	.|N	.|0.015662	T|T	0.49440|0.49440	0.1557|0.1557	N|N	0.16307|0.16307	0.4|0.4	0.80722|0.80722	D|D	1|1	.|B;B	.|0.12630	.|0.002;0.006	.|B;B	.|0.16722	.|0.016;0.01	T|T	0.35251|0.35251	-0.9796|-0.9796	5|9	.|0.23302	.|T	.|0.38	-10.0609|-10.0609	19.7069|19.7069	0.96076|0.96076	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|183;183	.|Q99543-2;Q99543	.|.;DNJC2_HUMAN	T|N	172|183;183;183;109	.|.	.|ENSP00000249270:T183N	P|T	-|-	1|2	0|0	DNAJC2|DNAJC2	102754250|102754250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.865000|5.865000	0.69583|0.69583	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	CCC|ACC		0.393	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			11	36	1	0	4.68919e-08	1	5.1916e-08	11	36					T	102967014	G	T	102967014	3	4	486	1	0	0	0	0	1	0	0	0	4639	1261	44	5	1369	5	DNAJC2	7	102967014	Missense_Mutation	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08	3209360	102967014	56171649	26	32440											
MKLN1	4289	broad.mit.edu	37	chr7	131012753	131012753	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttttcctccacctaccttcCcgagtaagtgccgggccttg	5	12	8	16	2	0	0	0	0	0	0	3	1	3	0	7	1	2	1	7	1	2	6			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr7:131012753C>G	ENST00000352689.6	+	1	135	c.95C>G	c.(94-96)cCc>cGc	p.P32R	MKLN1_ENST00000421797.2_Intron|MKLN1-AS2_ENST00000416220.1_RNA|MKLN1-AS2_ENST00000454515.1_RNA|MKLN1_ENST00000429546.1_Intron|MKLN1-AS2_ENST00000429067.1_RNA	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	32					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ACCTACCTTCCCGAGTAAGTG	0.677																																						ENST00000352689.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(94-96)cCc>cGc		muskelin 1, intracellular mediator containing kelch motifs							41	38	39					7																	131012753		2203	4300	6503	SO:0001583	missense	4289				signal transduction	cytoplasm	protein binding	g.chr7:131012753C>G	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.95C>G	7.37:g.131012753C>G	ENSP00000323527:p.Pro32Arg					MKLN1_ENST00000429546.1_Intron|MKLN1_ENST00000421797.2_Intron	p.P32R	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			1	135	+	Melanoma(18;0.162)		32					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	c.95C>G	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937235	0.73557	.	.	ENSG00000128585	ENST00000352689	D	0.98777	-5.13	4.22	3.26	0.37387	Muskelin, N-terminal (1);Galactose-binding domain-like (1);	0.105524	0.64402	D	0.000003	D	0.98893	0.9625	M	0.84846	2.72	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98771	1.0728	10	0.87932	D	0	-4.2542	8.7533	0.34631	0.2253:0.7747:0.0:0.0	.	32	Q9UL63	MKLN1_HUMAN	R	32	ENSP00000323527:P32R	ENSP00000323527:P32R	P	+	2	0	MKLN1	130663293	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.126000	0.42026	2.079000	0.62486	0.561000	0.74099	CCC		0.677	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		6	19	0	0	0	1	0	6	19					G	131012753	C	G	131012753	3	3	486	1	0	0	0	0	1	0	0	0	9603	623	22	5	130	5	MKLN1	7	131012753	Missense_Mutation	SNP	C	TCGA-ZG-A9L9-01A-11D-A41K-08	28045739	131012753	28125910	27	32441											
DLC1	10395	broad.mit.edu	37	chr8	12957110	12957110	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgctgcatccccttcacGtggtagaggatgtcgtccag	7	10	11	13	3	1	1	1	0	0	1	5	2	4	2	4	2	1	3	4	2	1	2			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr8:12957110G>A	ENST00000276297.4	-	9	3145	c.2736C>T	c.(2734-2736)caC>caT	p.H912H	DLC1_ENST00000358919.2_Silent_p.H475H|DLC1_ENST00000512044.2_Silent_p.H509H|DLC1_ENST00000520226.1_Silent_p.H401H	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	912					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.H912H(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCCCCTTCACGTGGTAGAGGA	0.587																																						ENST00000276297.4																			1	Substitution - coding silent(1)	p.H912H(1)	large_intestine(1)	NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2734-2736)caC>caT		deleted in liver cancer 1							82	73	76					8																	12957110		2203	4300	6503	SO:0001819	synonymous_variant	10395				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	g.chr8:12957110G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2736C>T	8.37:g.12957110G>A						DLC1_ENST00000520226.1_Silent_p.H401H|DLC1_ENST00000358919.2_Silent_p.H475H|DLC1_ENST00000512044.2_Silent_p.H509H	p.H912H	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	3145	-			912					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.2736C>T	CCDS5989.1																																																																																				0.587	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		6	63	0	0	0	1	0	6	63					A	12957110	G	A	12957110	2	1	486	1	0	0	0	0	0	0	0	1	4550	1136	40	1		1	DLC1	8	12957110	Silent	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08		12957110	133406912	28	32442											
LZTS1	11178	broad.mit.edu	37	chr8	20110545	20110545	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcgtccctgcagcgccgCggccgctcctcgtaggccag	4	6	13	18	6	0	0	0	0	0	0	4	0	2	0	5	2	3	4	5	2	1	1			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr8:20110545C>T	ENST00000381569.1	-	3	1254	c.897G>A	c.(895-897)ccG>ccA	p.P299P	LZTS1_ENST00000265801.6_Silent_p.P299P|LZTS1_ENST00000522290.1_Silent_p.P299P			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	299					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGCAGCGCCGCGGCCGCTCCT	0.682																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(895-897)ccG>ccA		leucine zipper, putative tumor suppressor 1							28	28	28					8																	20110545		2200	4289	6489	SO:0001819	synonymous_variant	11178				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	g.chr8:20110545C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.897G>A	8.37:g.20110545C>T						LZTS1_ENST00000265801.6_Silent_p.P299P|LZTS1_ENST00000522290.1_Silent_p.P299P	p.P299P			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	1254	-			299					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	ENST00000381569.1	37	c.897G>A	CCDS6015.1																																																																																				0.682	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		22	35	0	0	0	1	0	22	35					T	20110545	C	T	20110545	2	4	486	1	0	0	0	0	0	0	0	1	9138	755	27	1		1	LZTS1	8	20110545	Silent	SNP	C	TCGA-ZG-A9L9-01A-11D-A41K-08	7153435	20110545	126253477	29	32443											
MTFR1	9650	broad.mit.edu	37	chr8	66605935	66605935	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagaggatgcagtggcGtcttttgctgatgttggatg	7	12	16	6	1	1	2	0	1	1	1	1	5	1	4	1	4	2	3	1	4	0	3	rs148137982		TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr8:66605935G>A	ENST00000262146.4	+	4	348	c.222G>A	c.(220-222)gcG>gcA	p.A74A	MTFR1_ENST00000458689.2_Silent_p.A41A|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	74					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				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)			ATGCAGTGGCGTCTTTTGCTG	0.448																																						ENST00000262146.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(220-222)gcG>gcA		mitochondrial fission regulator 1		G	,,	1,4405	2.1+/-5.4	0,1,2202	101	89	93		123,222,222	-11.7	0	8	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	MTFR1	NM_001145838.1,NM_001145839.1,NM_014637.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	41/301,74/349,74/334	66605935	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9650					mitochondrion|plasma membrane		g.chr8:66605935G>A		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"likely ortholog of chicken chondrocyte protein with a poly proline region"					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.222G>A	8.37:g.66605935G>A						MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Silent_p.A41A	p.A74A	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		4	348	+			74					E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Silent	SNP	ENST00000262146.4	37	c.222G>A	CCDS6182.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.973708	0.00452	2.27E-4	0.0	ENSG00000066855	ENST00000518800	.	.	.	5.83	-11.7	0.00046	.	.	.	.	.	T	0.22360	0.0539	.	.	.	0.24927	N	0.991948	.	.	.	.	.	.	T	0.11641	-1.0579	4	.	.	.	-8.7147	7.4632	0.27306	0.0872:0.1995:0.532:0.1812	.	.	.	.	H	32	.	.	R	+	2	0	MTFR1	66768489	0.000000	0.05858	0.001000	0.08648	0.271000	0.26615	-3.213000	0.00555	-3.799000	0.00105	-2.594000	0.00164	CGT		0.448	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637		5	51	0	0	0	1	0	5	51					A	66605935	G	A	66605935	2	1	486	1	0	0	0	0	0	0	0	1	9925	1132	40	1		1	MTFR1	8	66605935	Silent	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08	46495390	66605935	79758087	30	32444											
MAN1B1	11253	broad.mit.edu	37	chr9	139995994	139995994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accatccaagattccttactCggatgtgaacatcggtactg	11	11	8	11	2	0	2	0	1	0	1	4	3	2	3	3	2	3	1	3	2	4	3			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr9:139995994C>T	ENST00000371589.4	+	8	1197	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L	MAN1B1_ENST00000474902.1_Missense_Mutation_p.S78L	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	375					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ATTCCTTACTCGGATGTGAAC	0.552																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(1123-1125)tCg>tTg		mannosidase, alpha, class 1B, member 1							94	80	85					9																	139995994		2203	4300	6503	SO:0001583	missense	11253				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	g.chr9:139995994C>T	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"endoplasmic reticulum alpha-mannosidase 1", "alpha 1,2-mannosidase", "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1", "ER alpha 1,2-mannosidase", "Man9GlcNAc2-specific processing alpha-mannosidase"	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1124C>T	9.37:g.139995994C>T	ENSP00000360645:p.Ser375Leu					MAN1B1_ENST00000474902.1_Missense_Mutation_p.S78L	p.S375L	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	8	1197	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	375					Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	ENST00000371589.4	37	c.1124C>T	CCDS7029.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134915	0.77662	.	.	ENSG00000177239	ENST00000371589;ENST00000474902	T;T	0.71934	-0.61;-0.61	5.38	5.38	0.77491	.	0.000000	0.64402	U	0.000003	D	0.83543	0.5277	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.992;0.998;0.988;1.0	T	0.83353	-0.0002	9	.	.	.	-7.0627	18.0998	0.89503	0.0:1.0:0.0:0.0	.	276;339;375;276	B4DPS9;B4DR05;Q9UKM7;Q68D80	.;.;MA1B1_HUMAN;.	L	375;78	ENSP00000360645:S375L;ENSP00000447256:S78L	.	S	+	2	0	MAN1B1	139115815	1.000000	0.71417	0.421000	0.26609	0.148000	0.21650	7.507000	0.81676	2.510000	0.84645	0.561000	0.74099	TCG		0.552	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		29	65	0	0	0	1	0	29	65					T	139995994	C	T	139995994	3	4	486	1	0	0	0	0	1	0	0	0	9212	893	31	2	1154	2	MAN1B1	9	139995994	Missense_Mutation	SNP	C	TCGA-ZG-A9L9-01A-11D-A41K-08		139995994	1217437	31	32445											
NET1	10276	broad.mit.edu	37	chr10	5498782	5498782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacagcccagaggagggcatCcacagtttccagtgttactc	10	8	10	13	0	0	1	0	0	0	1	3	2	2	2	3	2	2	3	3	2	1	2			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr10:5498782C>T	ENST00000355029.4	+	12	1758	c.1616C>T	c.(1615-1617)tCc>tTc	p.S539F	NET1_ENST00000380359.3_Missense_Mutation_p.S485F|NET1_ENST00000542715.1_Missense_Mutation_p.S358F	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	539					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AGGAGGGCATCCACAGTTTCC	0.562																																						ENST00000355029.4																			0				breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(1615-1617)tCc>tTc		neuroepithelial cell transforming 1							76	69	71					10																	5498782		2203	4300	6503	SO:0001583	missense	10276				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	g.chr10:5498782C>T	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1616C>T	10.37:g.5498782C>T	ENSP00000347134:p.Ser539Phe					NET1_ENST00000542715.1_Missense_Mutation_p.S358F|NET1_ENST00000380359.3_Missense_Mutation_p.S485F	p.S539F	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN			12	1758	+			539					Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	c.1616C>T	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	C	9.354	1.066379	0.20067	.	.	ENSG00000173848	ENST00000355029;ENST00000542715;ENST00000380359	T;T;T	0.16457	2.45;2.34;2.52	5.23	4.31	0.51392	.	0.397488	0.18350	N	0.143909	T	0.26484	0.0647	L	0.55481	1.735	0.21386	N	0.999707	P;P	0.49961	0.863;0.93	P;P	0.49502	0.534;0.613	T	0.05649	-1.0872	10	0.56958	D	0.05	-12.5845	14.2331	0.65906	0.0:0.8439:0.1561:0.0	.	485;539	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	F	539;358;485	ENSP00000347134:S539F;ENSP00000446452:S358F;ENSP00000369717:S485F	ENSP00000347134:S539F	S	+	2	0	NET1	5488782	0.500000	0.26091	0.012000	0.15200	0.002000	0.02628	3.648000	0.54410	1.167000	0.42706	0.650000	0.86243	TCC		0.562	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		18	35	0	0	0	1	0	18	35					T	5498782	C	T	5498782	3	4	486	1	0	0	0	0	1	0	0	0	10338	855	30	3	1759	3	NET1	10	5498782	Missense_Mutation	SNP	C	TCGA-ZG-A9L9-01A-11D-A41K-08		5498782	130035965	32	32446											
ITIH2	3698	broad.mit.edu	37	chr10	7763669	7763669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaatatgccctaactgccggGagactgcggtagatggggaa	11	7	15	8	2	0	2	0	0	0	2	0	5	0	3	2	4	4	1	2	4	5	3	rs147906523	byFrequency	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr10:7763669G>A	ENST00000358415.4	+	8	962	c.796G>A	c.(796-798)Gag>Aag	p.E266K	ITIH2_ENST00000379587.4_Missense_Mutation_p.E255K	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	266					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAACTGCCGGGAGACTGCGGT	0.557																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(796-798)Gag>Aag		inter-alpha-trypsin inhibitor heavy chain 2							174	156	162					10																	7763669		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7763669G>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.796G>A	10.37:g.7763669G>A	ENSP00000351190:p.Glu266Lys					ITIH2_ENST00000379587.4_Missense_Mutation_p.E255K	p.E266K	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			8	962	+			266					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.796G>A	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	6.004	0.369061	0.11352	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.78003	-1.14;-1.14	5.29	4.33	0.51752	.	0.433307	0.27846	N	0.017614	T	0.65344	0.2682	L	0.46885	1.475	0.36831	D	0.886915	B	0.31054	0.306	B	0.30646	0.118	T	0.65479	-0.6158	10	0.30854	T	0.27	-34.3609	3.6507	0.08202	0.0876:0.1361:0.5594:0.217	.	266	P19823	ITIH2_HUMAN	K	266;255	ENSP00000351190:E266K;ENSP00000368906:E255K	ENSP00000351190:E266K	E	+	1	0	ITIH2	7803675	0.990000	0.36364	0.883000	0.34634	0.056000	0.15407	2.057000	0.41365	2.470000	0.83445	0.462000	0.41574	GAG		0.557	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		20	74	0	0	0	1	0	20	74					A	7763669	G	A	7763669	3	1	486	1	0	0	0	0	1	0	0	0	7904	1175	41	3	826	3	ITIH2	10	7763669	Missense_Mutation	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08	2264887	7763669	127771078	33	32447											
PYROXD2	84795	broad.mit.edu	37	chr10	100152747	100152747	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggtggctgagcttgcgatCgcatcagagagggcacccat	8	8	15	10	2	1	2	1	1	0	1	2	4	1	2	1	3	2	4	1	3	0	1			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr10:100152747C>T	ENST00000370575.4	-	9	927	c.879G>A	c.(877-879)gcG>gcA	p.A293A	PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	293							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						AGCTTGCGATCGCATCAGAGA	0.592																																						ENST00000370575.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(877-879)gcG>gcA		pyridine nucleotide-disulphide oxidoreductase domain 2							97	87	90					10																	100152747		2203	4300	6503	SO:0001819	synonymous_variant	84795						oxidoreductase activity	g.chr10:100152747C>T	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.879G>A	10.37:g.100152747C>T						PYROXD2_ENST00000483923.1_5'UTR	p.A293A	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN			9	927	-			293					D3DR61|Q5TAA9|Q9BRQ1	Silent	SNP	ENST00000370575.4	37	c.879G>A	CCDS7474.1																																																																																				0.592	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		14	35	0	0	0	1	0	14	35					T	100152747	C	T	100152747	2	4	486	1	0	0	0	0	0	0	0	1	12867	871	31	2		2	PYROXD2	10	100152747	Silent	SNP	C	TCGA-ZG-A9L9-01A-11D-A41K-08	92389078	100152747	35382000	34	32448											
RPS6KB2	6199	broad.mit.edu	37	chr11	67198879	67198879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggacacagcacacacacGggctgagcggaacattctag	14	4	11	12	2	1	1	0	1	1	0	1	3	1	3	0	3	3	2	0	3	3	2	rs543512293	byFrequency	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr11:67198879G>A	ENST00000312629.5	+	5	395	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R117Q|RPS6KB2_ENST00000524814.1_Intron	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	117	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GCACACACACGGGCTGAGCGG	0.527													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		18103	0		0	False		,,,				2504	0					ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(349-351)cGg>cAg		ribosomal protein S6 kinase, 70kDa, polypeptide 2							110	116	114					11																	67198879		2126	4248	6374	SO:0001583	missense	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67198879G>A	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"ribosomal protein S6 kinase, 70kD, polypeptide 2"			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.350G>A	11.37:g.67198879G>A	ENSP00000308413:p.Arg117Gln					RPS6KB2_ENST00000524814.1_Intron|RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R117Q|AP003419.16_ENST00000535922.1_RNA	p.R117Q	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		5	395	+			117			Protein kinase.		B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	37	c.350G>A	CCDS41677.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694869	0.48202	.	.	ENSG00000175634	ENST00000539188;ENST00000312629	T;T	0.49139	0.79;1.82	5.56	2.7	0.31948	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	T	0.31104	0.0786	L	0.33093	0.98	0.23371	N	0.997816	B;B	0.31485	0.325;0.124	B;B	0.17722	0.019;0.006	T	0.18618	-1.0331	10	0.72032	D	0.01	.	8.387	0.32505	0.375:0.0:0.625:0.0	.	117;117	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	Q	117	ENSP00000442949:R117Q;ENSP00000308413:R117Q	ENSP00000308413:R117Q	R	+	2	0	RPS6KB2	66955455	0.967000	0.33354	0.307000	0.25127	0.996000	0.88848	1.518000	0.35877	0.310000	0.22990	0.563000	0.77884	CGG		0.527	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		15	28	0	0	0	1	0	15	28					A	67198879	G	A	67198879	3	1	486	1	0	0	0	0	1	0	0	0	13657	1116	39	2	368	2	RPS6KB2	11	67198879	Missense_Mutation	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08		67198879	67807637	35	32449											
MOGAT2	80168	broad.mit.edu	37	chr11	75440013	75440013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttggtttaataccctacCgccggcccatcaccactgtg	7	11	8	15	2	1	0	1	0	0	0	1	0	1	0	5	2	2	2	5	2	3	5	rs377311369	byFrequency	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr11:75440013C>T	ENST00000198801.5	+	5	899	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	MOGAT2_ENST00000526712.1_Missense_Mutation_p.R195C	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	277					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					AATACCCTACCGCCGGCCCAT	0.562													C|||	2	0.000399361	0	0	5008	,	,		18942	0.002		0	False		,,,				2504	0					ENST00000526712.1																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(583-585)Cgc>Tgc		monoacylglycerol O-acyltransferase 2							121	103	109					11																	75440013		2200	4293	6493	SO:0001583	missense	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75440013C>T	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.829C>T	11.37:g.75440013C>T	ENSP00000198801:p.Arg277Cys					MOGAT2_ENST00000198801.5_Missense_Mutation_p.R277C	p.R195C			Q3SYC2	MOGT2_HUMAN			4	1356	+	Ovarian(111;0.103)		277					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	c.583C>T	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143544	0.77888	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.18338	2.22;2.22	6.03	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58612	-0.7606	10	0.72032	D	0.01	-3.3782	9.063	0.36447	0.1461:0.7799:0.0:0.074	.	277	Q3SYC2	MOGT2_HUMAN	C	277;195	ENSP00000198801:R277C;ENSP00000436283:R195C	ENSP00000198801:R277C	R	+	1	0	MOGAT2	75117661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.522000	0.45572	1.566000	0.49654	0.655000	0.94253	CGC		0.562	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		35	51	0	0	0	1	0	35	51					T	75440013	C	T	75440013	3	4	486	1	0	0	0	0	1	0	0	0	9695	652	23	2	847	2	MOGAT2	11	75440013	Missense_Mutation	SNP	C	TCGA-ZG-A9L9-01A-11D-A41K-08	8241134	75440013	59566503	36	32450											
SCYL2	55681	broad.mit.edu	37	chr12	100706286	100706286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaatatttggctcctgAatacatactttctgtgagct	9	16	7	9	0	1	3	0	3	1	0	3	3	3	3	2	1	3	2	2	1	5	5			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr12:100706286A>G	ENST00000360820.2	+	6	1144	c.707A>G	c.(706-708)gAa>gGa	p.E236G		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TTGGCTCCTGAATACATACTT	0.343																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(706-708)gAa>gGa		SCY1-like 2 (S. cerevisiae)							79	74	76					12																	100706286		2203	4300	6503	SO:0001583	missense	55681				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	g.chr12:100706286A>G	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.707A>G	12.37:g.100706286A>G	ENSP00000354061:p.Glu236Gly						p.E236G	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			6	1144	+			236			Protein kinase.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.707A>G	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.022243	0.93462	.	.	ENSG00000136021	ENST00000549687;ENST00000548392;ENST00000258506;ENST00000360820	D;D;D	0.90004	-2.6;-2.6;-2.6	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	H	0.94847	3.59	0.80722	D	1	D	0.64830	0.994	D	0.71414	0.973	D	0.96920	0.9673	10	0.66056	D	0.02	-10.2963	16.0329	0.80593	1.0:0.0:0.0:0.0	.	236	Q6P3W7	SCYL2_HUMAN	G	236;63;63;236	ENSP00000448366:E236G;ENSP00000450294:E63G;ENSP00000354061:E236G	ENSP00000258506:E63G	E	+	2	0	SCYL2	99230417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.108000	0.94275	2.197000	0.70478	0.533000	0.62120	GAA		0.343	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		7	54	0	0	0	1	0	7	54					G	100706286	A	G	100706286	3	3	486	1	0	0	0	0	1	0	0	0	13948	246	9	4	725	4	SCYL2	12	100706286	Missense_Mutation	SNP	A	TCGA-ZG-A9L9-01A-11D-A41K-08		100706286	33145609	37	32451											
SPTB	6710	broad.mit.edu	37	chr14	65253586	65253586	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgtttttgccgctgacCaatatcctccttctgctcag	7	14	7	13	1	2	1	1	1	1	0	4	1	4	1	4	0	2	3	4	0	3	4			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr14:65253586C>A	ENST00000389721.5	-	15	3129	c.3097G>T	c.(3097-3099)Ggt>Tgt	p.G1033C	SPTB_ENST00000389722.3_Missense_Mutation_p.G1033C|SPTB_ENST00000556626.1_Missense_Mutation_p.G1033C|SPTB_ENST00000542895.1_Missense_Mutation_p.G1033C|SPTB_ENST00000389720.3_Missense_Mutation_p.G1033C	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1033					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCCGCTGACCAATATCCTCC	0.637																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(3097-3099)Ggt>Tgt		spectrin, beta, erythrocytic							75	78	77					14																	65253586		2203	4300	6503	SO:0001583	missense	6710				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	g.chr14:65253586C>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3097G>T	14.37:g.65253586C>A	ENSP00000374371:p.Gly1033Cys					SPTB_ENST00000556626.1_Missense_Mutation_p.G1033C|SPTB_ENST00000389721.5_Missense_Mutation_p.G1033C|SPTB_ENST00000542895.1_Missense_Mutation_p.G1033C|SPTB_ENST00000389720.3_Missense_Mutation_p.G1033C	p.G1033C	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	15	3150	-		all_lung(585;4.15e-09)	1033					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.3097G>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	7.947	0.744125	0.15710	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	4.89	0.823	0.18812	.	0.801532	0.11534	N	0.554403	T	0.39145	0.1067	N	0.19112	0.55	0.09310	N	0.999995	P;P	0.39216	0.491;0.664	P;P	0.52627	0.704;0.586	T	0.29610	-1.0006	10	0.38643	T	0.18	.	1.0637	0.01606	0.15:0.376:0.1461:0.3279	.	1033;1037	P11277;Q59FP5	SPTB1_HUMAN;.	C	1037;1033;1033;1033;1033;1033	ENSP00000374372:G1033C;ENSP00000451752:G1033C;ENSP00000374371:G1033C;ENSP00000443882:G1033C;ENSP00000374370:G1033C	ENSP00000374370:G1033C	G	-	1	0	SPTB	64323339	0.000000	0.05858	0.450000	0.26969	0.229000	0.25112	-0.769000	0.04710	0.190000	0.20209	-0.311000	0.09066	GGT		0.637	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			17	54	1	0	6.49762e-13	1	7.46023e-13	17	54					A	65253586	C	A	65253586	3	1	486	1	0	0	0	0	1	0	0	0	15117	594	21	5	4042	5	SPTB	14	65253586	Missense_Mutation	SNP	C	TCGA-ZG-A9L9-01A-11D-A41K-08		65253586	42095954	38	32452											
PKD1	5310	broad.mit.edu	37	chr16	2160678	2160678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccagatcccacaggtagCtggcggggcgcccacggccc	6	3	13	19	3	0	1	0	0	0	1	1	1	1	1	5	5	1	2	5	5	1	1			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr16:2160678C>A	ENST00000262304.4	-	15	4698	c.4490G>T	c.(4489-4491)aGc>aTc	p.S1497I	PKD1_ENST00000423118.1_Missense_Mutation_p.S1497I|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1497	PKD 10. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACAGGTAGCTGGCGGGGCG	0.662																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4489-4491)aGc>aTc		polycystic kidney disease 1 (autosomal dominant)							20	24	23					16																	2160678		2171	4279	6450	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160678C>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4490G>T	16.37:g.2160678C>A	ENSP00000262304:p.Ser1497Ile					PKD1_ENST00000423118.1_Missense_Mutation_p.S1497I	p.S1497I	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	4698	-			1497			PKD 10.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4490G>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	9.893	1.204689	0.22205	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.65178	-0.14;-0.14	5.54	-0.19	0.13256	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	1.296330	0.04870	N	0.445815	T	0.73666	0.3616	M	0.86097	2.795	0.09310	N	1	P;P	0.43578	0.811;0.589	P;P	0.45610	0.481;0.487	T	0.67799	-0.5577	10	0.66056	D	0.02	.	14.5769	0.68255	0.0:0.699:0.1425:0.1585	.	1497;1497	P98161-3;P98161	.;PKD1_HUMAN	I	1497;1497;1178	ENSP00000262304:S1497I;ENSP00000399501:S1497I	ENSP00000262304:S1497I	S	-	2	0	PKD1	2100679	0.048000	0.20356	0.044000	0.18714	0.007000	0.05969	0.226000	0.17776	-0.205000	0.10219	-0.330000	0.08379	AGC		0.662	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			3	35	1	0	0.115264	1	0.115264	3	35					A	2160678	C	A	2160678	3	1	486	1	0	0	0	0	1	0	0	0	11963	797	28	5	8549	5	PKD1	16	2160678	Missense_Mutation	SNP	C	TCGA-ZG-A9L9-01A-11D-A41K-08		2160678	88194075	39	32453											
CCDC42	146849	broad.mit.edu	37	chr17	8638450	8638450	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgtcctccagtgccacCtcagtcacctccttcaggtg	5	11	10	15	0	3	0	3	0	0	0	6	0	6	0	6	2	1	0	6	2	0	1			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr17:8638450C>A	ENST00000293845.3	-	6	1063	c.837G>T	c.(835-837)gaG>gaT	p.E279D	CCDC42_ENST00000539522.2_Missense_Mutation_p.E205D	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	279										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CCAGTGCCACCTCAGTCACCT	0.612																																						ENST00000293845.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(835-837)gaG>gaT		coiled-coil domain containing 42							108	90	96					17																	8638450		2203	4300	6503	SO:0001583	missense	146849							g.chr17:8638450C>A	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.837G>T	17.37:g.8638450C>A	ENSP00000293845:p.Glu279Asp					CCDC42_ENST00000539522.2_Missense_Mutation_p.E205D	p.E279D	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN			6	1063	-			279					Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.837G>T	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	C	0.160	-1.082085	0.01888	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.23552	1.93;1.9	5.11	-6.39	0.01951	.	3.909620	0.00575	N	0.000317	T	0.10252	0.0251	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.17992	-1.0351	10	0.10636	T	0.68	2.4966	0.2927	0.00261	0.3008:0.2337:0.1333:0.3322	.	279	Q96M95	CCD42_HUMAN	D	279;205	ENSP00000293845:E279D;ENSP00000444359:E205D	ENSP00000293845:E279D	E	-	3	2	CCDC42	8579175	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-2.250000	0.01187	-0.791000	0.04486	-0.867000	0.03001	GAG		0.612	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		6	25	1	0	8.12818e-05	1	8.54148e-05	6	25					A	8638450	C	A	8638450	3	1	486	1	0	0	0	0	1	0	0	0	2814	680	24	5	121	5	CCDC42	17	8638450	Missense_Mutation	SNP	C	TCGA-ZG-A9L9-01A-11D-A41K-08		8638450	72556760	40	32454											
MYH13	8735	broad.mit.edu	37	chr17	10258003	10258003	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatggcatgcttacatctgtCgccagcagttcttcactgtc	8	13	8	12	1	3	0	1	0	2	0	5	0	3	0	1	1	3	4	1	1	2	3	rs202154427	byFrequency	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr17:10258003C>T	ENST00000418404.3	-	10	1162	c.999G>A	c.(997-999)gcG>gcA	p.A333A	MYH13_ENST00000252172.4_Silent_p.A333A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	333	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			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						TTACATCTGTCGCCAGCAGTT	0.468													C|||	2	0.000399361	0	0	5008	,	,		21113	0.002		0	False		,,,				2504	0					ENST00000418404.3																			0				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						c.(997-999)gcG>gcA		myosin, heavy chain 13, skeletal muscle							97	95	96					17																	10258003		1982	4174	6156	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10258003C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.999G>A	17.37:g.10258003C>T						MYH13_ENST00000252172.4_Silent_p.A333A|MYH13_ENST00000570743.1_Silent_p.A333A	p.A333A			Q9UKX3	MYH13_HUMAN			10	1162	-			333			Myosin head-like.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.999G>A	CCDS45613.1																																																																																				0.468	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		17	17	0	0	0	1	0	17	17					T	10258003	C	T	10258003	2	4	486	1	0	0	0	0	0	0	0	1	10032	871	31	2		2	MYH13	17	10258003	Silent	SNP	C	TCGA-ZG-A9L9-01A-11D-A41K-08	1619553	10258003	70937207	41	32455											
MYH1	4619	broad.mit.edu	37	chr17	10408611	10408611	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagaagaccagctttgaaAaagacctatgtgtgggaaga	15	7	11	8	0	0	5	0	1	0	4	0	6	0	6	3	1	1	1	3	1	5	2			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr17:10408611A>G	ENST00000226207.5	-	21	2398	c.2304T>C	c.(2302-2304)ttT>ttC	p.F768F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	768	Actin-binding. {ECO:0000250}.|Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGCTTTGAAAAAGACCTATG	0.458																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(2302-2304)ttT>ttC		myosin, heavy chain 1, skeletal muscle, adult							69	72	71					17																	10408611		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10408611A>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2304T>C	17.37:g.10408611A>G						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.F768F	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			21	2398	-			768			Actin-binding (By similarity).|Myosin head-like.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.2304T>C	CCDS11155.1																																																																																				0.458	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		25	72	0	0	0	1	0	25	72					G	10408611	A	G	10408611	2	3	486	1	0	0	0	0	0	0	0	1	10029	11	1	4		4	MYH1	17	10408611	Silent	SNP	A	TCGA-ZG-A9L9-01A-11D-A41K-08	150608	10408611	70786599	42	32456											
KRT27	342574	broad.mit.edu	37	chr17	38935997	38935997	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccctgcggttctgctctgcGagggcttcgtactcagctcg	3	12	12	14	4	3	0	1	0	2	0	6	1	4	0	1	2	5	5	1	2	1	3	rs139309635	byFrequency	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr17:38935997G>A	ENST00000301656.3	-	4	841	c.801C>T	c.(799-801)ctC>ctT	p.L267L	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TCTGCTCTGCGAGGGCTTCGT	0.642													G|||	2	0.000399361	0.0015	0	5008	,	,		16221	0		0	False		,,,				2504	0					ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(799-801)ctC>ctT		keratin 27		G		37,4369	40.8+/-73.8	0,37,2166	42	42	42		801	-7.2	0.4	17	dbSNP_134	42	0,8600		0,0,4300	no	coding-synonymous	KRT27	NM_181537.3		0,37,6466	AA,AG,GG		0.0,0.8398,0.2845		267/460	38935997	37,12969	2203	4300	6503	SO:0001819	synonymous_variant	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38935997G>A	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.801C>T	17.37:g.38935997G>A							p.L267L	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			4	841	-		Breast(137;0.000812)	267			Coil 2.|Rod.			Silent	SNP	ENST00000301656.3	37	c.801C>T	CCDS11375.1																																																																																				0.642	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		11	15	0	0	0	1	0	11	15					A	38935997	G	A	38935997	2	1	486	1	0	0	0	0	0	0	0	1	8464	1045	37	2		2	KRT27	17	38935997	Silent	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08	28527386	38935997	42259213	43	32457											
ZNF567	163081	broad.mit.edu	37	chr19	37211064	37211064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggagaaatcttatgaatgtCctcactgtgggaaggccttt	10	12	12	7	0	2	2	1	1	1	1	3	4	3	3	2	3	0	0	2	3	4	2			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr19:37211064C>T	ENST00000536254.2	+	6	1660	c.1438C>T	c.(1438-1440)Cct>Tct	p.P480S	ZNF567_ENST00000588311.1_Missense_Mutation_p.P449S|ZNF567_ENST00000585696.1_Missense_Mutation_p.P449S|ZNF567_ENST00000392163.2_Missense_Mutation_p.P449S|ZNF567_ENST00000360729.4_Missense_Mutation_p.P449S|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTATGAATGTCCTCACTGTGG	0.418																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1345-1347)Cct>Tct		zinc finger protein 567							87	87	87					19																	37211064		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37211064C>T	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"Zinc fingers, C2H2-type", "-"	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1438C>T	19.37:g.37211064C>T	ENSP00000441838:p.Pro480Ser					ZNF567_ENST00000392163.2_Missense_Mutation_p.P449S|ZNF567_ENST00000360729.4_Missense_Mutation_p.P449S|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.P449S|ZNF567_ENST00000536254.2_Missense_Mutation_p.P480S	p.P449S			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2575	+	Esophageal squamous(110;0.198)		480					B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.1345C>T		.	.	.	.	.	.	.	.	.	.	C	9.166	1.019936	0.19355	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.07021	3.23;3.23;3.23	4.88	1.26	0.21427	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.175622	0.27861	N	0.017558	T	0.06371	0.0164	N	0.01473	-0.845	0.80722	D	1	B;D	0.63880	0.014;0.993	B;D	0.72075	0.01;0.976	T	0.50189	-0.8857	10	0.21014	T	0.42	.	7.7515	0.28901	0.4304:0.4235:0.1461:0.0	.	480;449	Q8N184;F8WEL6	ZN567_HUMAN;.	S	480;424;449;479;449	ENSP00000441838:P480S;ENSP00000353957:P449S;ENSP00000376003:P449S	ENSP00000353957:P449S	P	+	1	0	ZNF567	41902904	0.000000	0.05858	1.000000	0.80357	0.986000	0.74619	-2.513000	0.00957	0.736000	0.32559	0.561000	0.74099	CCT		0.418	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		25	30	0	0	0	1	0	25	30					T	37211064	C	T	37211064	3	4	486	1	0	0	0	0	1	0	0	0	17995	855	30	3	1355	3	ZNF567	19	37211064	Missense_Mutation	SNP	C	TCGA-ZG-A9L9-01A-11D-A41K-08		37211064	21917919	44	32458											
TTC3	7267	broad.mit.edu	37	chr21	38564418	38564418	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actttctactcacagtctcaGtttgaagaacaaattaaggc	14	12	6	9	0	3	2	2	1	2	1	4	2	3	2	0	1	2	1	0	1	5	4			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr21:38564418G>C	ENST00000399017.2	+	41	7868	c.5121G>C	c.(5119-5121)caG>caC	p.Q1707H	TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000355666.1_Missense_Mutation_p.Q1707H|TTC3_ENST00000354749.2_Missense_Mutation_p.Q1707H|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1707					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			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)				CACAGTCTCAGTTTGAAGAAC	0.348																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				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						c.(5119-5121)caG>caC		tetratricopeptide repeat domain 3							61	59	60					21																	38564418		2202	4299	6501	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38564418G>C	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5121G>C	21.37:g.38564418G>C	ENSP00000381981:p.Gln1707His					TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.Q1707H|TTC3_ENST00000354749.2_Missense_Mutation_p.Q1707H	p.Q1707H	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			41	7868	+		Myeloproliferative disorder(46;0.0412)	1707					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.5121G>C	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.925879	0.34002	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.12147	2.71;2.71;2.71	5.09	1.16	0.20824	.	0.564275	0.17146	N	0.185257	T	0.14184	0.0343	M	0.68952	2.095	0.80722	D	1	B	0.31227	0.314	B	0.32149	0.141	T	0.04650	-1.0936	10	0.72032	D	0.01	-3.7799	5.0091	0.14302	0.2616:0.1512:0.5872:0.0	.	1707	P53804	TTC3_HUMAN	H	1707	ENSP00000347889:Q1707H;ENSP00000381981:Q1707H;ENSP00000346791:Q1707H	ENSP00000346791:Q1707H	Q	+	3	2	TTC3	37486288	0.371000	0.25056	0.924000	0.36721	0.733000	0.41908	0.155000	0.16362	-0.001000	0.14495	-0.224000	0.12420	CAG		0.348	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			9	48	0	0	0	1	0	9	48					C	38564418	G	C	38564418	3	2	486	1	0	0	0	0	1	0	0	0	16694	1020	36	5	5279	5	TTC3	21	38564418	Missense_Mutation	SNP	G	TCGA-ZG-A9L9-01A-11D-A41K-08		38564418	9565477	45	32459											
FAM109B	150368	broad.mit.edu	37	chr22	42473682	42473682	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctacatgcgcctggtggtaCgcgagttggagagccagttg	7	9	16	9	3	0	1	0	0	0	1	0	3	0	1	2	3	4	4	2	3	2	4			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr22:42473682C>A	ENST00000321753.3	+	3	572	c.385C>A	c.(385-387)Cgc>Agc	p.R129S	SMDT1_ENST00000331479.3_5'Flank|snoU13_ENST00000458891.1_RNA	NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	129					endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						CCTGGTGGTACGCGAGTTGGA	0.667																																						ENST00000321753.3																			0				endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						c.(385-387)Cgc>Agc		family with sequence similarity 109, member B							68	67	67					22																	42473682		2203	4300	6503	SO:0001583	missense	150368				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity	g.chr22:42473682C>A	BX648402	CCDS33655.1	22q13.2	2013-01-10			ENSG00000177096	ENSG00000177096		"Pleckstrin homology (PH) domain containing"	27161	protein-coding gene	gene with protein product		614240				12477932	Standard	NM_001002034		Approved	DKFZp686J07229	uc003bbz.3	Q6ICB4	OTTHUMG00000151285	ENST00000321753.3:c.385C>A	22.37:g.42473682C>A	ENSP00000312753:p.Arg129Ser						p.R129S	NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN			3	572	+			129					Q3SXQ3|Q8N6L9	Missense_Mutation	SNP	ENST00000321753.3	37	c.385C>A	CCDS33655.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377406	0.42105	.	.	ENSG00000177096	ENST00000321753	T	0.45276	0.9	4.63	4.63	0.57726	.	0.250315	0.37095	U	0.002250	T	0.30198	0.0757	L	0.39245	1.2	0.24901	N	0.992108	P	0.40302	0.712	B	0.31442	0.13	T	0.29761	-1.0001	10	0.44086	T	0.13	-3.1838	12.3717	0.55258	0.3255:0.6745:0.0:0.0	.	129	Q6ICB4	SESQ2_HUMAN	S	129	ENSP00000312753:R129S	ENSP00000312753:R129S	R	+	1	0	FAM109B	40803628	0.338000	0.24775	0.742000	0.31022	0.248000	0.25809	1.223000	0.32527	2.110000	0.64415	0.655000	0.94253	CGC		0.667	FAM109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322084.1	NM_001002034		11	44	1	0	4.68919e-08	1	5.1916e-08	11	44					A	42473682	C	A	42473682	3	1	486	1	0	0	0	0	1	0	0	0	5395	536	19	5	387	5	FAM109B	22	42473682	Missense_Mutation	SNP	C	TCGA-ZG-A9L9-01A-11D-A41K-08		42473682	8830884	46	32460											
PARK7	11315	broad.mit.edu	37	chr1	8022930	8022930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtagatgtcatgaggcgaGctggggtaagtcccacatcg	9	9	14	9	2	1	2	1	1	0	1	3	3	2	2	1	3	1	3	1	3	2	2			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:8022930G>A	ENST00000493678.1	+	2	152	c.85G>A	c.(85-87)Gct>Act	p.A29T	PARK7_ENST00000377488.1_Missense_Mutation_p.A29T|PARK7_ENST00000377493.5_Missense_Mutation_p.A29T|PARK7_ENST00000377491.1_Missense_Mutation_p.A29T|PARK7_ENST00000338639.5_Missense_Mutation_p.A29T|PARK7_ENST00000497113.1_3'UTR			Q99497	PARK7_HUMAN	parkinson protein 7	29					adult locomotory behavior (GO:0008344)|autophagy (GO:0006914)|cellular response to glyoxal (GO:0036471)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to oxidative stress (GO:0034599)|dopamine uptake involved in synaptic transmission (GO:0051583)|glycolate biosynthetic process (GO:0046295)|glyoxal catabolic process (GO:1903190)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|lactate biosynthetic process (GO:0019249)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|methylglyoxal catabolic process to D-lactate (GO:0019243)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of death-inducing signaling complex assembly (GO:1903073)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein acetylation (GO:1901984)|negative regulation of protein binding (GO:0032091)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein K48-linked deubiquitination (GO:1903094)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of TRAIL-activated apoptotic signaling pathway (GO:1903122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|negative regulation of ubiquitin-specific protease activity (GO:2000157)|positive regulation of androgen receptor activity (GO:2000825)|positive regulation of dopamine biosynthetic process (GO:1903181)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of L-dopa biosynthetic process (GO:1903197)|positive regulation of L-dopa decarboxylase activity (GO:1903200)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of oxidative phosphorylation uncoupler activity (GO:2000277)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of pyrroline-5-carboxylate reductase activity (GO:1903168)|positive regulation of superoxide dismutase activity (GO:1901671)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine 3-monooxygenase activity (GO:1903178)|protein stabilization (GO:0050821)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of fibril organization (GO:1902903)|regulation of inflammatory response (GO:0050727)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of neuron apoptotic process (GO:0043523)|single fertilization (GO:0007338)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|cupric ion binding (GO:1903135)|cuprous ion binding (GO:1903136)|cytokine binding (GO:0019955)|enzyme binding (GO:0019899)|glyoxalase (glycolic acid-forming) activity (GO:1990422)|glyoxalase III activity (GO:0019172)|identical protein binding (GO:0042802)|L-dopa decarboxylase activator activity (GO:0036478)|mRNA binding (GO:0003729)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|peptidase activity (GO:0008233)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|repressing transcription factor binding (GO:0070491)|RNA binding (GO:0003723)|scaffold protein binding (GO:0097110)|small protein activating enzyme binding (GO:0044388)|small protein conjugating enzyme binding (GO:0044390)|superoxide dismutase copper chaperone activity (GO:0016532)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|tyrosine 3-monooxygenase activator activity (GO:0036470)|ubiquitin-specific protease binding (GO:1990381)			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)		CATGAGGCGAGCTGGGGTAAG	0.373																																						ENST00000493678.1																			0				large_intestine(1)	1						c.(85-87)Gct>Act		parkinson protein 7							93	87	89					1																	8022930		2203	4300	6503	SO:0001583	missense	0				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	g.chr1:8022930G>A	D61380	CCDS93.1	1p36.23	2014-04-11	2011-07-21		ENSG00000116288	ENSG00000116288		"Parkinson disease"	16369	protein-coding gene	gene with protein product			"Parkinson disease (autosomal recessive, early onset) 7"			11462174, 9070310	Standard	NM_007262		Approved	DJ-1, DJ1	uc001aox.4	Q99497	OTTHUMG00000001210	ENST00000493678.1:c.85G>A	1.37:g.8022930G>A	ENSP00000418770:p.Ala29Thr					PARK7_ENST00000377491.1_Missense_Mutation_p.A29T|PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377493.5_Missense_Mutation_p.A29T|PARK7_ENST00000338639.5_Missense_Mutation_p.A29T|PARK7_ENST00000377488.1_Missense_Mutation_p.A29T	p.A29T			Q99497	PARK7_HUMAN		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)	2	152	+	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)	29					B2R4Z1|O14805|Q6DR95|Q7LFU2	Missense_Mutation	SNP	ENST00000493678.1	37	c.85G>A	CCDS93.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072653	0.93950	.	.	ENSG00000116288	ENST00000338639;ENST00000493678;ENST00000377491;ENST00000377488	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.89322	0.6682	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.91941	0.5563	10	0.87932	D	0	.	13.9595	0.64170	0.0:0.0:1.0:0.0	.	29	Q99497	PARK7_HUMAN	T	29	ENSP00000340278:A29T;ENSP00000418770:A29T;ENSP00000366711:A29T;ENSP00000366708:A29T	ENSP00000340278:A29T	A	+	1	0	PARK7	7945517	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.319000	0.89992	2.434000	0.82447	0.585000	0.79938	GCT		0.373	PARK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003577.1	NM_007262		3	24	0	0	0	1	0	3	24					A	8022930	G	A	8022930	3	1	487	1	0	0	0	0	1	0	0	0	11450	971	34	3	87	3	PARK7	1	8022930	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08		8022930	241227691	1	32461											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12253152	12253152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgacttcgctcttccaGttggtaagtcgcaagaagtc	8	11	11	11	3	1	1	0	0	1	1	5	2	2	1	1	2	0	4	1	2	3	4			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:12253152G>A	ENST00000376259.3	+	6	873	c.784G>A	c.(784-786)Gtt>Att	p.V262I	MIR4632_ENST00000584158.1_RNA|TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	262					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	CGCTCTTCCAGTTGGTAAGTC	0.562																																						ENST00000376259.3																			0				central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(784-786)Gtt>Att		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)|Infliximab(DB00065)						77	62	68					1																	12253152		2203	4300	6503	SO:0001583	missense	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12253152G>A	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"Tumor necrosis factor receptor superfamily", "CD molecules"	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.784G>A	1.37:g.12253152G>A	ENSP00000365435:p.Val262Ile					TNFRSF1B_ENST00000492361.1_3'UTR	p.V262I	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN		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)	6	873	+	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)	262					B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	37	c.784G>A	CCDS145.1	.	.	.	.	.	.	.	.	.	.	G	1.011	-0.687793	0.03328	.	.	ENSG00000028137	ENST00000376259;ENST00000400863	D	0.86230	-2.09	4.18	-3.59	0.04583	.	2.291020	0.01341	N	0.011563	T	0.56202	0.1969	N	0.00368	-1.59	0.18873	N	0.999988	B	0.06786	0.001	B	0.04013	0.001	T	0.67473	-0.5662	10	0.02654	T	1	-1.9362	6.1981	0.20561	0.2698:0.1779:0.5524:0.0	.	262	P20333	TNR1B_HUMAN	I	262	ENSP00000365435:V262I	ENSP00000365435:V262I	V	+	1	0	TNFRSF1B	12175739	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-0.140000	0.10342	-0.366000	0.08064	0.609000	0.83330	GTT		0.562	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		3	14	0	0	0	1	0	3	14					A	12253152	G	A	12253152	3	1	487	1	0	0	0	0	1	0	0	0	16291	1029	36	3	806	3	TNFRSF1B	1	12253152	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08	4230222	12253152	236997469	2	32462											
UBR4	23352	broad.mit.edu	37	chr1	19501477	19501477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtcggttcaaatcatcctCtgaggcttctggggacagga	10	10	12	9	1	4	1	2	1	2	0	6	3	5	3	1	5	0	2	1	5	2	2			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:19501477C>T	ENST00000375254.3	-	21	2851	c.2824G>A	c.(2824-2826)Gag>Aag	p.E942K	UBR4_ENST00000375217.2_Missense_Mutation_p.E942K|UBR4_ENST00000375226.2_Missense_Mutation_p.E942K|UBR4_ENST00000375267.2_Missense_Mutation_p.E942K	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	942					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			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)		AAATCATCCTCTGAGGCTTCT	0.428																																						ENST00000375267.2																			0				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						c.(2824-2826)Gag>Aag		ubiquitin protein ligase E3 component n-recognin 4							101	94	97					1																	19501477		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19501477C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2824G>A	1.37:g.19501477C>T	ENSP00000364403:p.Glu942Lys					UBR4_ENST00000375226.2_Missense_Mutation_p.E942K|UBR4_ENST00000375254.3_Missense_Mutation_p.E942K|UBR4_ENST00000375217.2_Missense_Mutation_p.E942K	p.E942K			Q5T4S7	UBR4_HUMAN		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)	21	2827	-		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)	942					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.2824G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857284	0.71834	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.30510	0.0767	N	0.22421	0.69	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.01762	-1.1279	10	0.08599	T	0.76	.	20.0143	0.97474	0.0:1.0:0.0:0.0	.	942	Q5T4S7	UBR4_HUMAN	K	942;942;942;942;158	ENSP00000364403:E942K;ENSP00000364416:E942K;ENSP00000364365:E942K;ENSP00000364374:E942K	ENSP00000364365:E942K	E	-	1	0	UBR4	19374064	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.398000	0.79919	2.831000	0.97527	0.650000	0.86243	GAG		0.428	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		26	41	0	0	0	1	0	26	41					T	19501477	C	T	19501477	3	4	487	1	0	0	0	0	1	0	0	0	16901	922	32	3	13071	3	UBR4	1	19501477	Missense_Mutation	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08	7248325	19501477	229749144	3	32463											
YBX1	4904	broad.mit.edu	37	chr1	43162925	43162925	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcggggatatagaccacgAttccgcaggtatggtccacg	10	9	12	10	4	0	1	0	0	0	1	3	3	2	2	3	4	0	2	3	4	4	5			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:43162925A>C	ENST00000321358.7	+	6	871	c.732A>C	c.(730-732)cgA>cgC	p.R244R		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	244					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATAGACCACGATTCCGCAGGT	0.448																																						ENST00000321358.7																			0				large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16						c.(730-732)cgA>cgC		Y box binding protein 1							105	87	93					1																	43162925		2203	4300	6503	SO:0001819	synonymous_variant	4904				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	g.chr1:43162925A>C	BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"nuclease sensitive element binding protein 1"	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.732A>C	1.37:g.43162925A>C							p.R244R	NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN			6	871	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	244					P16990|P16991|Q14972|Q15325|Q5FVF0	Silent	SNP	ENST00000321358.7	37	c.732A>C	CCDS470.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.376437	0.24857	.	.	ENSG00000065978	ENST00000318612;ENST00000436427	.	.	.	5.6	4.49	0.54785	.	.	.	.	.	T	0.48241	0.1489	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33111	-0.9881	5	0.15066	T	0.55	-0.3923	9.0537	0.36392	0.9136:0.0:0.0864:0.0	.	.	.	.	A	235;294	.	ENSP00000361621:D235A	D	+	2	0	YBX1	42935512	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.361000	0.44160	2.120000	0.65058	0.460000	0.39030	GAT		0.448	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019786.2	NM_004559		11	41	0	0	0	1	0	11	41					C	43162925	A	C	43162925	2	2	487	1	0	0	0	0	0	0	0	1	17466	320	12	5		5	YBX1	1	43162925	Silent	SNP	A	TCGA-ZG-A9LB-01A-11D-A41K-08	23661448	43162925	206087696	4	32464											
OR10X1	128367	broad.mit.edu	37	chr1	158549149	158549149	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctgcagaaagagtcccTgaatatcagtgcagtctctg	10	10	12	9	0	3	3	1	1	2	2	5	3	4	3	1	1	2	2	1	1	3	1			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:158549149T>G	ENST00000368150.1	-	1	540	c.541A>C	c.(541-543)Agg>Cgg	p.R181R		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAAGAGTCCCTGAATATCAGT	0.438																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(541-543)Agg>Cgg		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							62	63	63					1																	158549149		2203	4300	6503	SO:0001819	synonymous_variant	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549149T>G	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.541A>C	1.37:g.158549149T>G							p.R181R	NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN			1	540	-	all_hematologic(112;0.0378)		181					Q6IFR8	Silent	SNP	ENST00000368150.1	37	c.541A>C	CCDS30900.1																																																																																				0.438	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		3	36	0	0	0	1	0	3	36					G	158549149	T	G	158549149	2	3	487	1	0	0	0	0	0	0	0	1	10922	1579	55	5		5	OR10X1	1	158549149	Silent	SNP	T	TCGA-ZG-A9LB-01A-11D-A41K-08	115386224	158549149	90701472	5	32465											
OR10J3	441911	broad.mit.edu	37	chr1	159284386	159284386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacaagtttgtgctgccGcctgaagctggagaaacctt	11	9	12	9	1	0	3	0	1	0	2	0	5	0	3	3	1	4	3	3	1	4	2	rs150299321		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:159284386G>A	ENST00000332217.5	-	1	63	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTGTGCTGCCGCCTGAAGCTG	0.453													g|||	1	0.000199681	0	0	5008	,	,		22123	0		0.001	False		,,,				2504	0					ENST00000332217.5																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(64-66)Cgg>Tgg		olfactory receptor, family 10, subfamily J, member 3		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	175	183	180		64	2.8	0.9	1	dbSNP_134	180	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR10J3	NM_001004467.1	101	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign	22/330	159284386	4,13002	2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159284386G>A		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.64C>T	1.37:g.159284386G>A	ENSP00000331789:p.Arg22Trp						p.R22W	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	63	-	all_hematologic(112;0.0429)		22						Missense_Mutation	SNP	ENST00000332217.5	37	c.64C>T	CCDS30909.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	2.544	-0.305691	0.05495	4.54E-4	2.33E-4	ENSG00000196266	ENST00000332217	T	0.03004	4.08	5.13	2.79	0.32731	.	0.000000	0.29609	N	0.011678	T	0.00637	0.0021	N	0.13043	0.29	0.19300	N	0.999974	B	0.06786	0.001	B	0.01281	0.0	T	0.49254	-0.8959	10	0.33141	T	0.24	.	1.9492	0.03363	0.5821:0.1593:0.0874:0.1711	.	22	Q5JRS4	O10J3_HUMAN	W	22	ENSP00000331789:R22W	ENSP00000331789:R22W	R	-	1	2	OR10J3	157551010	0.005000	0.15991	0.896000	0.35187	0.018000	0.09664	-0.070000	0.11523	0.390000	0.25115	-0.405000	0.06341	CGG		0.453	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			17	106	0	0	0	1	0	17	106					A	159284386	G	A	159284386	3	1	487	1	0	0	0	0	1	0	0	0	10911	1086	38	1	927	1	OR10J3	1	159284386	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08	735237	159284386	89966235	6	32466											
CACNA1E	777	broad.mit.edu	37	chr1	181759691	181759691	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccaagaacggcagtctcTggtgaatgcatgagttatat	11	12	11	7	1	1	3	0	2	1	1	3	3	2	3	1	2	2	4	1	2	5	3			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:181759691T>C	ENST00000367573.2	+	44	5897	c.5897T>C	c.(5896-5898)cTg>cCg	p.L1966P	CACNA1E_ENST00000526775.1_Splice_Site_p.L1947P|CACNA1E_ENST00000367570.1_Splice_Site_p.L1966P|CACNA1E_ENST00000358338.5_Splice_Site_p.L1898P|CACNA1E_ENST00000367567.4_Splice_Site_p.L1573P|CACNA1E_ENST00000360108.3_Splice_Site_p.L1947P|CACNA1E_ENST00000357570.5_Splice_Site_p.L1917P	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1966					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			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						CGGCAGTCTCTGGTGAATGCA	0.463																																						ENST00000526775.1																			0				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						c.e43+1		calcium channel, voltage-dependent, R type, alpha 1E subunit							76	79	78					1																	181759691		1896	4114	6010	SO:0001630	splice_region_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181759691T>C	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5898+1T>C	1.37:g.181759691T>C						CACNA1E_ENST00000367567.4_Splice_Site_p.L1573_splice|CACNA1E_ENST00000358338.5_Splice_Site_p.L1898_splice|CACNA1E_ENST00000367573.2_Splice_Site_p.L1966_splice|CACNA1E_ENST00000360108.3_Splice_Site_p.L1947_splice|CACNA1E_ENST00000357570.5_Splice_Site_p.L1917_splice|CACNA1E_ENST00000367570.1_Splice_Site_p.L1966_splice	p.L1947_splice	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			43	6005	+			1966					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Splice_Site	SNP	ENST00000367573.2	37	c.5841_splice	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.850377	0.51270	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96427	-3.94;-3.95;-3.93;-3.95;-4.01;-3.94;-3.94	5.54	5.54	0.83059	.	0.911579	0.09287	N	0.822874	D	0.95990	0.8694	N	0.14661	0.345	0.53688	D	0.99997	D;D	0.69078	0.994;0.997	P;D	0.80764	0.808;0.994	D	0.92178	0.5749	10	0.27785	T	0.31	.	15.3394	0.74284	0.0:0.0:0.0:1.0	.	1947;1966	Q15878-2;Q15878-3	.;.	P	1966;1947;1917;1898;1573;1947;1966	ENSP00000356542:L1966P;ENSP00000434814:L1947P;ENSP00000350183:L1917P;ENSP00000351101:L1898P;ENSP00000356539:L1573P;ENSP00000353222:L1947P;ENSP00000356545:L1966P	ENSP00000350183:L1917P	L	+	2	0	CACNA1E	180026314	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.317000	0.65822	2.098000	0.63641	0.533000	0.62120	CTG		0.463	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	Missense_Mutation	4	37	0	0	0	1	0	4	37					C	181759691	T	C	181759691	5	2	487	1	0	0	0	0	0	0	1	0	2542	1594	55	4	6071	4	CACNA1E	1	181759691	Splice_Site	SNP	T	TCGA-ZG-A9LB-01A-11D-A41K-08	22475305	181759691	67490930	7	32467											
THSD7B	80731	broad.mit.edu	37	chr2	137814461	137814461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaattgcagcatagaactcGcgcggtcatagctccccctc	10	8	9	14	3	1	1	1	0	0	1	4	2	2	1	2	1	4	3	2	1	4	3			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr2:137814461G>A	ENST00000409968.1	+	3	789	c.611G>A	c.(610-612)cGc>cAc	p.R204H	THSD7B_ENST00000272643.3_Missense_Mutation_p.R204H|THSD7B_ENST00000413152.2_Missense_Mutation_p.R173H|THSD7B_ENST00000543459.1_Missense_Mutation_p.R63H			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	204	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATAGAACTCGCGCGGTCATA	0.507																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(610-612)cGc>cAc		thrombospondin, type I, domain containing 7B							190	186	187					2																	137814461		1961	4151	6112	SO:0001583	missense	80731							g.chr2:137814461G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.611G>A	2.37:g.137814461G>A	ENSP00000387145:p.Arg204His					THSD7B_ENST00000272643.3_Missense_Mutation_p.R204H|THSD7B_ENST00000543459.1_Missense_Mutation_p.R63H|THSD7B_ENST00000413152.2_Missense_Mutation_p.R173H	p.R204H						BRCA - Breast invasive adenocarcinoma(221;0.19)	3	789	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.611G>A		.	.	.	.	.	.	.	.	.	.	G	21.1	4.098418	0.76870	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.88669	0.6499	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92363	0.5899	10	0.72032	D	0.01	.	19.9508	0.97198	0.0:0.0:1.0:0.0	.	204;173	Q9C0I4;C9JKN6	THS7B_HUMAN;.	H	204;204;173;63	ENSP00000387145:R204H;ENSP00000272643:R204H;ENSP00000413841:R173H;ENSP00000443370:R63H	ENSP00000272643:R204H	R	+	2	0	THSD7B	137530931	1.000000	0.71417	0.968000	0.41197	0.272000	0.26649	9.813000	0.99286	2.890000	0.99128	0.585000	0.79938	CGC		0.507	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		32	130	0	0	0	1	0	32	130					A	137814461	G	A	137814461	3	1	487	1	0	0	0	0	1	0	0	0	15877	1087	38	1	524	1	THSD7B	2	137814461	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08		137814461	105384912	8	32468											
LRP1B	53353	broad.mit.edu	37	chr2	141291620	141291620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taattcatcagagttgtctcCgcagtcattttctccatcac	9	15	5	12	1	6	1	4	0	2	1	8	1	6	1	2	0	0	2	2	0	1	5			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr2:141291620C>T	ENST00000389484.3	-	47	8703	c.7732G>A	c.(7732-7734)Gga>Aga	p.G2578R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2578	LDL-receptor class A 12. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			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)		GAGTTGTCTCCGCAGTCATTT	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(7732-7734)Gga>Aga		low density lipoprotein receptor-related protein 1B							117	112	114					2																	141291620		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141291620C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7732G>A	2.37:g.141291620C>T	ENSP00000374135:p.Gly2578Arg	TSP Lung(27;0.18)					p.G2578R	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		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)	47	8703	-		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)	2578			LDL-receptor class A 12.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7732G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148661	0.94603	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95307	-3.67	5.42	5.42	0.78866	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.96719	0.8929	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95046	0.8182	10	0.25751	T	0.34	.	19.5918	0.95518	0.0:1.0:0.0:0.0	.	2578	Q9NZR2	LRP1B_HUMAN	R	2578;2516	ENSP00000374135:G2578R	ENSP00000374135:G2578R	G	-	1	0	LRP1B	141008090	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.399000	0.79935	2.700000	0.92200	0.563000	0.77884	GGA		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	55	0	0	0	1	0	4	55					T	141291620	C	T	141291620	3	4	487	1	0	0	0	0	1	0	0	0	8955	661	23	2	6247	2	LRP1B	2	141291620	Missense_Mutation	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08	3477159	141291620	101907753	9	32469											
RAD18	56852	broad.mit.edu	37	chr3	9000636	9000636	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgaggtattatcattgcaAtgttgaaatactcgaagcaa	15	12	8	6	1	1	2	1	2	0	0	2	3	1	2	0	1	3	4	0	1	7	5			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr3:9000636A>G	ENST00000264926.2	-	2	217	c.101T>C	c.(100-102)aTt>aCt	p.I34T	RAD18_ENST00000495087.1_Intron	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	34					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TATCATTGCAATGTTGAAATA	0.323								Rad6 pathway																														ENST00000264926.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(100-102)aTt>aCt	Rad6 pathway	RAD18 homolog (S. cerevisiae)							163	152	156					3																	9000636		2203	4298	6501	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:9000636A>G		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"RING-type (C3HC4) zinc fingers"	18278	protein-coding gene	gene with protein product		605256	"RAD18 homolog (S. cerevisiae)"			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.101T>C	3.37:g.9000636A>G	ENSP00000264926:p.Ile34Thr					RAD18_ENST00000495087.1_Intron	p.I34T	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	2	217	-			34					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.101T>C	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.325305	0.60743	.	.	ENSG00000070950	ENST00000264926;ENST00000413832	T;T	0.16073	2.37;2.37	5.87	5.87	0.94306	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.10165	0.0249	N	0.01535	-0.81	0.53005	D	0.999969	B	0.25486	0.127	B	0.40982	0.345	T	0.45948	-0.9226	10	0.13853	T	0.58	2.4228	14.5226	0.67863	1.0:0.0:0.0:0.0	.	34	Q9NS91	RAD18_HUMAN	T	34	ENSP00000264926:I34T;ENSP00000412261:I34T	ENSP00000264926:I34T	I	-	2	0	RAD18	8975636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.337000	0.59310	2.371000	0.80710	0.533000	0.62120	ATT		0.323	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		40	289	0	0	0	1	0	40	289					G	9000636	A	G	9000636	3	3	487	1	0	0	0	0	1	0	0	0	12980	101	4	4	1434	4	RAD18	3	9000636	Missense_Mutation	SNP	A	TCGA-ZG-A9LB-01A-11D-A41K-08		9000636	189021794	10	32470											
CTNNB1	1499	broad.mit.edu	37	chr3	41266227	41266227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggattttctcagtccttcaCtcaagaacaagtagctggta	11	12	9	9	0	3	1	3	0	1	1	5	2	4	2	1	2	2	3	1	2	5	5			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr3:41266227C>T	ENST00000349496.5	+	3	504	c.224C>T	c.(223-225)aCt>aTt	p.T75I	CTNNB1_ENST00000405570.1_Missense_Mutation_p.T75I|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T75I|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T75I|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T68I	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	75					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.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.A20_A80del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.M8_A80del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.A20_S111del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CAGTCCTTCACTCAAGAACAA	0.393		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	104	Deletion - In frame(83)|Complex - deletion inframe(14)|Unknown(7)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.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.A20_A80del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.M8_A80del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.A20_S111del(1)|p.Y30_A80del(1)	liver(75)|large_intestine(16)|stomach(7)|small_intestine(2)|skin(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)	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						c.(223-225)aCt>aTt		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						40	41	41					3																	41266227		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	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	g.chr3:41266227C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.224C>T	3.37:g.41266227C>T	ENSP00000344456:p.Thr75Ile					CTNNB1_ENST00000405570.1_Missense_Mutation_p.T75I|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T75I|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T75I|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T68I	p.T75I	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	504	+			75					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.224C>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579872	0.46006	.	.	ENSG00000168036	ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.91	5.91	0.95273	.	0.091067	0.85682	D	0.000000	T	0.46756	0.1409	L	0.46157	1.445	0.58432	D	0.999995	B	0.24368	0.102	B	0.22601	0.04	T	0.28522	-1.0041	10	0.42905	T	0.14	-23.0591	20.2983	0.98569	0.0:1.0:0.0:0.0	.	75	P35222	CTNB1_HUMAN	I	75;75;75;75;68;75;75;75	ENSP00000385604:T75I;ENSP00000412219:T75I;ENSP00000379486:T75I;ENSP00000344456:T75I;ENSP00000411226:T68I;ENSP00000379488:T75I;ENSP00000409302:T75I;ENSP00000401599:T75I	ENSP00000344456:T75I	T	+	2	0	CTNNB1	41241231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.874000	0.69652	2.802000	0.96397	0.655000	0.94253	ACT		0.393	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		5	29	0	0	0	1	0	5	29					T	41266227	C	T	41266227	3	4	487	1	0	0	0	0	1	0	0	0	4016	565	20	3	230	3	CTNNB1	3	41266227	Missense_Mutation	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08	32265591	41266227	156756203	11	32471											
UQCRC1	7384	broad.mit.edu	37	chr3	48641726	48641726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgtgccctggaatgctgtgGcatgcaggtagttaaagacc	9	10	14	8	0	0	1	0	0	0	1	0	2	0	2	2	3	3	5	2	3	4	2			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr3:48641726G>A	ENST00000203407.5	-	5	982	c.566C>T	c.(565-567)gCc>gTc	p.A189V		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	189					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GAATGCTGTGGCATGCAGGTA	0.547																																					NSCLC(81;1112 1427 27031 32409 45529)	ENST00000203407.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(565-567)gCc>gTc		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)						161	132	142					3																	48641726		2203	4300	6503	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48641726G>A	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.566C>T	3.37:g.48641726G>A	ENSP00000203407:p.Ala189Val						p.A189V	NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	5	982	-			189					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.566C>T	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	G	36	5.927387	0.97110	.	.	ENSG00000010256	ENST00000203407	T	0.20200	2.09	5.83	5.83	0.93111	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	H	0.98525	4.255	0.80722	D	1	D;D	0.89917	0.979;1.0	P;D	0.85130	0.587;0.997	T	0.80420	-0.1390	10	0.87932	D	0	-23.2338	20.1218	0.97964	0.0:0.0:1.0:0.0	.	74;189	B4DUL5;P31930	.;QCR1_HUMAN	V	189	ENSP00000203407:A189V	ENSP00000203407:A189V	A	-	2	0	UQCRC1	48616730	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.857000	0.99534	2.763000	0.94921	0.561000	0.74099	GCC		0.547	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		23	61	0	0	0	1	0	23	61					A	48641726	G	A	48641726	3	1	487	1	0	0	0	0	1	0	0	0	17016	1203	42	3	912	3	UQCRC1	3	48641726	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08	7375499	48641726	149380704	12	32472											
WDR5B	54554	broad.mit.edu	37	chr3	122134323	122134323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccttgctctgattggccGatgaggagagggccaactgt	7	11	13	10	1	1	3	0	2	1	1	2	5	2	3	3	3	2	1	3	3	1	3	rs147814589		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr3:122134323G>A	ENST00000330689.4	-	1	559	c.53C>T	c.(52-54)tCg>tTg	p.S18L	RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	18										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		CTGATTGGCCGATGAGGAGAG	0.502																																						ENST00000330689.4																			0				kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(52-54)tCg>tTg		WD repeat domain 5B		G	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	130	127	128		53	1.8	0	3	dbSNP_134	128	0,8600		0,0,4300	no	missense	WDR5B	NM_019069.3	145	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	18/331	122134323	2,13004	2203	4300	6503	SO:0001583	missense	54554							g.chr3:122134323G>A	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"WD repeat domain containing"	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.53C>T	3.37:g.122134323G>A	ENSP00000330381:p.Ser18Leu						p.S18L	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0704)	1	559	-			18					B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	c.53C>T	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371416	0.42003	4.54E-4	0.0	ENSG00000196981	ENST00000330689	T	0.51574	0.7	4.54	1.75	0.24633	WD40 repeat-like-containing domain (1);	0.303180	0.37483	N	0.002065	T	0.23532	0.0569	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.16928	-1.0386	10	0.87932	D	0	.	5.577	0.17228	0.1751:0.0:0.6661:0.1587	.	18	Q86VZ2	WDR5B_HUMAN	L	18	ENSP00000330381:S18L	ENSP00000330381:S18L	S	-	2	0	WDR5B	123617013	0.534000	0.26362	0.000000	0.03702	0.010000	0.07245	3.921000	0.56454	0.266000	0.21894	0.563000	0.77884	TCG		0.502	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		4	152	0	0	0	1	0	4	152					A	122134323	G	A	122134323	3	1	487	1	0	0	0	0	1	0	0	0	17306	1059	37	2	943	2	WDR5B	3	122134323	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08	73492597	122134323	75888107	13	32473											
KIT	3815	broad.mit.edu	37	chr4	55603399	55603399	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaaagaccaacattcaagCaaattgttcagctaattgag	18	10	6	7	0	2	2	2	1	0	1	2	2	2	2	1	0	3	3	1	0	7	6			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr4:55603399C>T	ENST00000288135.5	+	20	2852	c.2755C>T	c.(2755-2757)Caa>Taa	p.Q919*		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	919	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AACATTCAAGCAAATTGTTCA	0.468		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(2755-2757)Caa>Taa		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						147	132	137					4																	55603399		2203	4300	6503	SO:0001587	stop_gained	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	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	g.chr4:55603399C>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2755C>T	4.37:g.55603399C>T	ENSP00000288135:p.Gln919*						p.Q919*	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	20	2852	+	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)		919			Protein kinase.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Nonsense_Mutation	SNP	ENST00000288135.5	37	c.2755C>T	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	37	6.532552	0.97641	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	.	.	.	5.44	5.44	0.79542	.	0.111610	0.40064	N	0.001181	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	19.6219	0.95660	0.0:1.0:0.0:0.0	.	.	.	.	X	919;915	.	ENSP00000288135:Q919X	Q	+	1	0	KIT	55298156	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	4.671000	0.61590	2.716000	0.92895	0.650000	0.86243	CAA		0.468	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			13	53	0	0	0	1	0	13	53					T	55603399	C	T	55603399	4	4	487	1	0	0	0	0	0	1	0	0	8329	711	25	3	2833	3	KIT	4	55603399	Nonsense_Mutation	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08		55603399	135550877	14	32474											
JMY	133746	broad.mit.edu	37	chr5	78587011	78587011	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaagcatcatgggcagcGgctgctgaacggatggaaaa	13	6	15	7	2	1	1	1	1	0	0	1	3	1	3	0	5	4	5	0	5	5	1	rs373926091		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr5:78587011G>A	ENST00000396137.4	+	4	1878	c.1416G>A	c.(1414-1416)gcG>gcA	p.A472A		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	472					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CATGGGCAGCGGCTGCTGAAC	0.388																																						ENST00000396137.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1414-1416)gcG>gcA		junction mediating and regulatory protein, p53 cofactor		G		0,3738		0,0,1869	74	73	73		1416	-1.8	1	5		73	1,8187		0,1,4093	no	coding-synonymous	JMY	NM_152405.4		0,1,5962	AA,AG,GG		0.0122,0.0,0.0084		472/989	78587011	1,11925	1869	4094	5963	SO:0001819	synonymous_variant	133746				'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	g.chr5:78587011G>A	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1416G>A	5.37:g.78587011G>A							p.A472A	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	4	1878	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	472					A1L4P5|B5MDS2|B5MDT0	Silent	SNP	ENST00000396137.4	37	c.1416G>A	CCDS4047.3																																																																																				0.388	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		13	50	0	0	0	1	0	13	50					A	78587011	G	A	78587011	2	1	487	1	0	0	0	0	0	0	0	1	7957	1103	39	2		2	JMY	5	78587011	Silent	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08		78587011	102328249	15	32475											
THBS4	7060	broad.mit.edu	37	chr5	79355291	79355291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacatcatttttgcgaaacaCcatagctgaatgccaggctt	13	11	7	10	1	1	1	1	1	0	0	1	2	1	1	2	1	5	2	2	1	4	4			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr5:79355291C>T	ENST00000350881.2	+	6	951	c.761C>T	c.(760-762)aCc>aTc	p.T254I	THBS4_ENST00000511733.1_Missense_Mutation_p.T163I|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	254					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TTGCGAAACACCATAGCTGAA	0.438																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(760-762)aCc>aTc		thrombospondin 4							129	123	125					5																	79355291		2203	4300	6503	SO:0001583	missense	7060				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	g.chr5:79355291C>T		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.761C>T	5.37:g.79355291C>T	ENSP00000339730:p.Thr254Ile					THBS4_ENST00000511733.1_Missense_Mutation_p.T163I|CTD-2201I18.1_ENST00000503007.1_RNA	p.T254I	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	6	951	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	254					B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.761C>T	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933315	0.92458	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	T;T	0.26518	1.73;1.73	5.62	5.62	0.85841	Thrombospondin/cartilage oligomeric matrix protein, coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	M	0.76574	2.34	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.52808	-0.8526	10	0.54805	T	0.06	-28.2768	19.6689	0.95903	0.0:1.0:0.0:0.0	.	254	P35443	TSP4_HUMAN	I	254;163	ENSP00000339730:T254I;ENSP00000422298:T163I	ENSP00000339730:T254I	T	+	2	0	THBS4	79391047	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.788000	0.69020	2.642000	0.89623	0.655000	0.94253	ACC		0.438	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			24	49	0	0	0	1	0	24	49					T	79355291	C	T	79355291	3	4	487	1	0	0	0	0	1	0	0	0	15853	507	18	3	783	3	THBS4	5	79355291	Missense_Mutation	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08	768280	79355291	101559969	16	32476											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812194	140812194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcggtgggtctgcacaCgggcgaggtgcgcacggcgc	4	7	17	13	6	2	0	0	0	2	0	3	1	2	0	0	5	2	2	0	5	0	1			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr5:140812194C>T	ENST00000252085.3	+	1	2010	c.1868C>T	c.(1867-1869)aCg>aTg	p.T623M	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTGCACACGGGCGAGGTG	0.692																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(1867-1869)aCg>aTg									28	35	33					5																	140812194		2180	4246	6426	SO:0001583	missense	0							g.chr5:140812194C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1868C>T	5.37:g.140812194C>T	ENSP00000252085:p.Thr623Met					PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.T623M	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2010	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.1868C>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	15.38	2.814996	0.50527	.	.	ENSG00000253159	ENST00000252085	T	0.58060	0.36	5.06	4.13	0.48395	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.79299	0.4422	H	0.95712	3.71	0.25822	N	0.984277	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.71981	-0.4428	9	0.87932	D	0	.	11.9999	0.53224	0.1316:0.7402:0.1282:0.0	.	623;623	O60330-2;O60330	.;PCDGC_HUMAN	M	623	ENSP00000252085:T623M	ENSP00000252085:T623M	T	+	2	0	PCDHGA12	140792378	0.000000	0.05858	0.974000	0.42286	0.862000	0.49288	-0.607000	0.05648	2.515000	0.84797	0.556000	0.70494	ACG		0.692	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		4	65	0	0	0	1	0	4	65					T	140812194	C	T	140812194	3	4	487	1	0	0	0	0	1	0	0	0	11553	536	19	1	1870	1	PCDHGA12	5	140812194	Missense_Mutation	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08	61456903	140812194	40103066	17	32477											
YIPF5	81555	broad.mit.edu	37	chr5	143545158	143545158	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgcgaatagtcatagcCagcatactgtctataaatga	13	12	8	8	1	2	1	1	1	1	0	2	2	2	1	1	0	5	2	1	0	7	6			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr5:143545158C>G	ENST00000274496.5	-	3	255	c.121G>C	c.(121-123)Ggc>Cgc	p.G41R	YIPF5_ENST00000448443.2_Missense_Mutation_p.G41R|YIPF5_ENST00000513112.1_5'UTR	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	41					protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum exit site (GO:0070971)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TAGTCATAGCCAGCATACTGT	0.403																																						ENST00000274496.5																			0				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9						c.(121-123)Ggc>Cgc		Yip1 domain family, member 5							128	115	120					5																	143545158		2203	4300	6503	SO:0001583	missense	81555				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane		g.chr5:143545158C>G	AF318329	CCDS4279.1, CCDS64277.1	5q31.3	2009-01-12			ENSG00000145817	ENSG00000145817		"Yip1 domain family"	24877	protein-coding gene	gene with protein product		611483				12975309, 18718466	Standard	NM_001024947		Approved	SMAP-5, FinGER5	uc003lnl.5	Q969M3	OTTHUMG00000129679	ENST00000274496.5:c.121G>C	5.37:g.143545158C>G	ENSP00000274496:p.Gly41Arg					YIPF5_ENST00000513112.1_5'UTR|YIPF5_ENST00000448443.2_Missense_Mutation_p.G41R	p.G41R	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	255	-		all_hematologic(541;0.118)	41					D3DQF5|Q4VSN6|Q53EX4|Q8NHE5|Q9H338|Q9H3U4	Missense_Mutation	SNP	ENST00000274496.5	37	c.121G>C	CCDS4279.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735408	0.30774	.	.	ENSG00000145817	ENST00000274496;ENST00000377986;ENST00000448443;ENST00000536767	T;T	0.30981	1.51;1.51	5.72	4.85	0.62838	.	0.181657	0.50627	D	0.000115	T	0.25568	0.0622	L	0.53249	1.67	0.80722	D	1	B	0.29862	0.259	B	0.26614	0.071	T	0.04737	-1.0930	10	0.15952	T	0.53	-6.6212	9.9202	0.41459	0.1378:0.7927:0.0:0.0695	.	41	Q969M3	YIPF5_HUMAN	R	41	ENSP00000274496:G41R;ENSP00000397704:G41R	ENSP00000274496:G41R	G	-	1	0	YIPF5	143525351	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	2.221000	0.42917	1.559000	0.49555	-0.145000	0.13849	GGC		0.403	YIPF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251882.1	NM_030799		10	43	0	0	0	1	0	10	43					G	143545158	C	G	143545158	3	3	487	1	0	0	0	0	1	0	0	0	17478	594	21	5	668	5	YIPF5	5	143545158	Missense_Mutation	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08	2732964	143545158	37370102	18	32478											
GPR115	221393	broad.mit.edu	37	chr6	47680273	47680273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacaacatctggaaatattGcatttatagtggagttatta	16	14	7	4	0	1	0	0	0	1	0	1	2	1	2	0	2	3	2	0	2	8	7			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr6:47680273G>A	ENST00000283303.2	+	5	739	c.481G>A	c.(481-483)Gca>Aca	p.A161T	GPR115_ENST00000327753.3_Missense_Mutation_p.A161T|GPR115_ENST00000371220.1_Missense_Mutation_p.A218T|RN7SKP116_ENST00000516902.1_RNA	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	161					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGGAAATATTGCATTTATAGT	0.333																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				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						c.(481-483)Gca>Aca		G protein-coupled receptor 115							89	92	91					6																	47680273		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47680273G>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.481G>A	6.37:g.47680273G>A	ENSP00000283303:p.Ala161Thr					GPR115_ENST00000371220.1_Missense_Mutation_p.A218T|GPR115_ENST00000327753.3_Missense_Mutation_p.A161T	p.A161T	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			5	739	+			161					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.481G>A	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	30	5.054457	0.93793	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.37058	1.46;1.22;1.22	5.78	5.78	0.91487	.	0.080213	0.53938	D	0.000052	T	0.55721	0.1938	M	0.78637	2.42	0.39545	D	0.968884	D	0.89917	1.0	D	0.74348	0.983	T	0.59005	-0.7535	10	0.66056	D	0.02	-17.2952	17.1742	0.86837	0.0:0.0:1.0:0.0	.	161	Q8IZF3	GP115_HUMAN	T	218;161;161	ENSP00000360264:A218T;ENSP00000328319:A161T;ENSP00000283303:A161T	ENSP00000283303:A161T	A	+	1	0	GPR115	47788232	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.916000	0.69981	2.738000	0.93877	0.655000	0.94253	GCA		0.333	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		7	47	0	0	0	1	0	7	47					A	47680273	G	A	47680273	3	1	487	1	0	0	0	0	1	0	0	0	6632	1319	46	3	495	3	GPR115	6	47680273	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08		47680273	123434794	19	32479											
HMGCLL1	54511	broad.mit.edu	37	chr6	55360386	55360386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatctcataacaacccatgCcgtacaatctcttagacacc	14	9	4	14	1	2	2	1	0	2	2	4	2	2	2	3	0	4	1	3	0	5	3			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr6:55360386C>T	ENST00000398661.2	-	8	847	c.716G>A	c.(715-717)gGc>gAc	p.G239D	HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G177D|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.G106D|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G209D	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	239					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAACCCATGCCGTACAATCT	0.403																																					Ovarian(35;840 893 7837 15538 42887)	ENST00000398661.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(715-717)gGc>gAc		3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1							102	92	95					6																	55360386		1865	4118	5983	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55360386C>T	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.716G>A	6.37:g.55360386C>T	ENSP00000381654:p.Gly239Asp					HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G177D|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G209D|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.G106D	p.G239D	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		8	847	-	Lung NSC(77;0.0875)		239					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.716G>A	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	C	2.885	-0.230858	0.05983	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000308161	D;D;D;D	0.97941	-4.62;-4.62;-4.58;-4.62	5.61	5.61	0.85477	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.492081	0.25439	N	0.030674	D	0.84710	0.5532	N	0.00599	-1.345	0.80722	D	1	B;B;B;B	0.21147	0.052;0.0;0.0;0.0	B;B;B;B	0.32677	0.15;0.001;0.001;0.002	T	0.82780	-0.0288	10	0.02654	T	1	-2.135	19.649	0.95793	0.0:1.0:0.0:0.0	.	106;177;209;239	B7Z212;F8W793;Q8TB92-2;Q8TB92	.;.;.;HMGC2_HUMAN	D	209;239;106;177	ENSP00000274901:G209D;ENSP00000381654:G239D;ENSP00000359887:G106D;ENSP00000309737:G177D	ENSP00000274901:G209D	G	-	2	0	HMGCLL1	55468345	0.061000	0.20836	0.927000	0.36925	0.778000	0.44026	2.264000	0.43302	2.635000	0.89317	0.650000	0.86243	GGC		0.403	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		5	37	0	0	0	1	0	5	37					T	55360386	C	T	55360386	3	4	487	1	0	0	0	0	1	0	0	0	7230	739	26	3	408	3	HMGCLL1	6	55360386	Missense_Mutation	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08	7680113	55360386	115754681	20	32480											
ZNF451	26036	broad.mit.edu	37	chr6	57013182	57013182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacagcacagaatttaaccGacatgaacactcatatccat	17	8	4	12	1	1	2	1	1	0	1	2	3	2	2	2	0	4	1	2	0	5	3			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr6:57013182G>A	ENST00000370706.4	+	10	2543	c.2299G>A	c.(2299-2301)Gac>Aac	p.D767N	RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.D767N|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.D767N	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	767					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GAATTTAACCGACATGAACAC	0.418																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2299-2301)Gac>Aac		zinc finger protein 451							85	77	79					6																	57013182		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57013182G>A	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2299G>A	6.37:g.57013182G>A	ENSP00000359740:p.Asp767Asn					RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.D767N|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.D767N|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA	p.D767N	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2543	+	Lung NSC(77;0.145)		767					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.2299G>A	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	8.435	0.849509	0.17034	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.19669	2.13;2.15;2.13	5.26	3.4	0.38934	Zinc finger, C2H2-like (1);	0.282111	0.40302	N	0.001131	T	0.09335	0.0230	M	0.63843	1.955	0.80722	D	1	B;B;B;B	0.28933	0.131;0.194;0.228;0.119	B;B;B;B	0.25506	0.026;0.061;0.051;0.023	T	0.04307	-1.0961	10	0.38643	T	0.18	-12.6268	8.5214	0.33277	0.243:0.0:0.757:0.0	.	767;767;767;767	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	N	767	ENSP00000359740:D767N;ENSP00000350083:D767N;ENSP00000421645:D767N	ENSP00000350083:D767N	D	+	1	0	ZNF451	57121141	0.995000	0.38212	0.540000	0.28089	0.170000	0.22686	2.396000	0.44468	0.649000	0.30751	0.650000	0.86243	GAC		0.418	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		8	17	0	0	0	1	0	8	17					A	57013182	G	A	57013182	3	1	487	1	0	0	0	0	1	0	0	0	17919	1058	37	2	2337	2	ZNF451	6	57013182	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08	1652796	57013182	114101885	21	32481											
SLC22A2	6582	broad.mit.edu	37	chr6	160679379	160679379	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagctcactctcttacctcGgtgacgatggacgagccagg	8	9	12	12	3	2	2	1	2	1	0	4	5	2	3	2	3	3	1	2	3	1	1			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr6:160679379G>A	ENST00000366953.3	-	1	669	c.411C>T	c.(409-411)acC>acT	p.T137T	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Silent_p.T116T	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	137					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CTCTTACCTCGGTGACGATGG	0.617																																						ENST00000366952.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(346-348)acC>acT		solute carrier family 22 (organic cation transporter), member 2							60	67	64					6																	160679379		2201	4300	6501	SO:0001819	synonymous_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160679379G>A	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.411C>T	6.37:g.160679379G>A						SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Silent_p.T137T	p.T116T			O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	3	1829	-		Breast(66;0.000776)|Ovarian(120;0.0303)	137					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Silent	SNP	ENST00000366953.3	37	c.348C>T	CCDS5276.1																																																																																				0.617	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		14	54	0	0	0	1	0	14	54					A	160679379	G	A	160679379	2	1	487	1	0	0	0	0	0	0	0	1	14450	1103	39	2		2	SLC22A2	6	160679379	Silent	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08	103666197	160679379	10435688	22	32482											
SLC12A9	56996	broad.mit.edu	37	chr7	100457538	100457538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagactatgggttcttcCgcgccatcagcctgtggccc	7	9	12	13	2	2	1	1	0	1	1	3	2	3	2	4	3	1	1	4	3	2	3			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr7:100457538C>T	ENST00000354161.3	+	8	1134	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	SLC12A9_ENST00000475623.1_3'UTR|SLC12A9_ENST00000540482.1_Missense_Mutation_p.R337C|SLC12A9_ENST00000428758.1_Missense_Mutation_p.R337C|SLC12A9_ENST00000415287.1_Missense_Mutation_p.R248C|SLC12A9_ENST00000275729.3_Missense_Mutation_p.R248C	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	337					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.R337S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGGGTTCTTCCGCGCCATCAG	0.582																																						ENST00000354161.3																			1	Substitution - Missense(1)	p.R337S(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(1009-1011)Cgc>Tgc		solute carrier family 12, member 9							113	108	110					7																	100457538		2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100457538C>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"Solute carriers"	17435	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1009C>T	7.37:g.100457538C>T	ENSP00000275730:p.Arg337Cys					SLC12A9_ENST00000540482.1_Missense_Mutation_p.R337C|SLC12A9_ENST00000415287.1_Missense_Mutation_p.R248C|SLC12A9_ENST00000275729.3_Missense_Mutation_p.R248C|SLC12A9_ENST00000428758.1_Missense_Mutation_p.R337C|SLC12A9_ENST00000475623.1_3'UTR	p.R337C	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			8	1134	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		337					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.1009C>T	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573999	0.65765	.	.	ENSG00000146828	ENST00000540482;ENST00000418037;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000416675	D;D;D;D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18;-5.18;-5.18;-5.18	4.7	4.7	0.59300	Amino acid permease domain (1);	0.191937	0.47093	D	0.000259	D	0.98353	0.9453	L	0.40543	1.245	0.35123	D	0.767192	D;D	0.71674	0.996;0.998	P;D	0.69479	0.894;0.964	D	0.99968	1.1925	10	0.66056	D	0.02	.	15.1568	0.72749	0.0:1.0:0.0:0.0	.	248;337	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	C	337;73;337;248;248;337;145	ENSP00000443702:R337C;ENSP00000406560:R73C;ENSP00000408301:R337C;ENSP00000275729:R248C;ENSP00000413796:R248C;ENSP00000275730:R337C;ENSP00000410692:R145C	ENSP00000275729:R248C	R	+	1	0	SLC12A9	100295474	0.933000	0.31639	0.118000	0.21660	0.855000	0.48748	2.226000	0.42963	2.421000	0.82119	0.563000	0.77884	CGC		0.582	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		9	65	0	0	0	1	0	9	65					T	100457538	C	T	100457538	3	4	487	1	0	0	0	0	1	0	0	0	14390	652	23	2	1035	2	SLC12A9	7	100457538	Missense_Mutation	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08		100457538	58681125	23	32483											
PLXNA4	91584	broad.mit.edu	37	chr7	131848926	131848926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtagtcaatctgctggCggatgagcttgtcctcgctc	5	15	11	10	2	2	1	1	1	1	0	5	2	3	2	1	2	2	4	1	2	2	4			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr7:131848926C>T	ENST00000359827.3	-	24	5437	c.4475G>A	c.(4474-4476)cGc>cAc	p.R1492H	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1492H			Q9HCM2	PLXA4_HUMAN	plexin A4	1492					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AATCTGCTGGCGGATGAGCTT	0.602																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(4474-4476)cGc>cAc		plexin A4							79	88	85					7																	131848926		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131848926C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4475G>A	7.37:g.131848926C>T	ENSP00000352882:p.Arg1492His					PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1492H	p.R1492H			Q9HCM2	PLXA4_HUMAN			24	5437	-			1492					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.4475G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	35	5.484409	0.96323	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.15487	2.42;2.42	5.45	5.45	0.79879	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58645	-0.7600	10	0.59425	D	0.04	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	1492	Q9HCM2	PLXA4_HUMAN	H	1492	ENSP00000323194:R1492H;ENSP00000352882:R1492H	ENSP00000323194:R1492H	R	-	2	0	PLXNA4	131499466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.550000	0.86006	0.655000	0.94253	CGC		0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		6	24	0	0	0	1	0	6	24					T	131848926	C	T	131848926	3	4	487	1	0	0	0	0	1	0	0	0	12122	768	27	1	1245	1	PLXNA4	7	131848926	Missense_Mutation	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08	31391388	131848926	27289737	24	32484											
ASH2L	9070	broad.mit.edu	37	chr8	37963943	37963943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcttggagacagaatcatCtaatggaaaagatacactag	16	9	10	6	0	2	3	1	0	1	3	2	5	2	4	0	3	1	1	0	3	6	4			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr8:37963943C>G	ENST00000343823.6	+	2	545	c.236C>G	c.(235-237)tCt>tGt	p.S79C	ASH2L_ENST00000545394.1_5'UTR|ASH2L_ENST00000521652.1_5'UTR|ASH2L_ENST00000428278.2_5'UTR|ASH2L_ENST00000250635.7_5'UTR	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	79	DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.S79C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ACAGAATCATCTAATGGAAAA	0.323																																						ENST00000343823.6																			1	Substitution - Missense(1)	p.S79C(1)	NS(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19						c.(235-237)tCt>tGt		ash2 (absent, small, or homeotic)-like (Drosophila)							147	150	149					8																	37963943		2203	4300	6503	SO:0001583	missense	9070				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	g.chr8:37963943C>G	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"Zinc fingers, PHD-type"	744	protein-coding gene	gene with protein product		604782	"ash2 (absent, small, or homeotic, Drosophila, homolog)-like"	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.236C>G	8.37:g.37963943C>G	ENSP00000340896:p.Ser79Cys					ASH2L_ENST00000250635.7_5'UTR|ASH2L_ENST00000545394.1_5'UTR|ASH2L_ENST00000521652.1_5'UTR|ASH2L_ENST00000428278.2_5'UTR	p.S79C	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN			2	545	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	79					A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	c.236C>G	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779594	0.90195	.	.	ENSG00000129691	ENST00000343823	T	0.25579	1.79	5.99	5.99	0.97316	.	0.111909	0.64402	D	0.000007	T	0.34571	0.0902	L	0.53249	1.67	0.80722	D	1	B	0.32693	0.38	B	0.39738	0.308	T	0.06356	-1.0831	10	0.66056	D	0.02	.	17.3945	0.87441	0.0:1.0:0.0:0.0	.	79	Q9UBL3	ASH2L_HUMAN	C	79	ENSP00000340896:S79C	ENSP00000340896:S79C	S	+	2	0	ASH2L	38083100	0.972000	0.33761	0.941000	0.38009	0.918000	0.54935	6.151000	0.71806	2.840000	0.97914	0.655000	0.94253	TCT		0.323	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		5	181	0	0	0	1	0	5	181					G	37963943	C	G	37963943	3	3	487	1	0	0	0	0	1	0	0	0	1042	913	32	5	242	5	ASH2L	8	37963943	Missense_Mutation	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08		37963943	108400079	25	32485											
WHSC1L1	54904	broad.mit.edu	37	chr8	38205427	38205427	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattaggatactgattatatGactggtatttggtttgagtt	10	18	10	3	0	0	3	0	3	0	0	0	4	0	4	0	3	1	3	0	3	5	8			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr8:38205427G>C	ENST00000317025.8	-	2	780	c.263C>G	c.(262-264)tCa>tGa	p.S88*	WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.S88*|WHSC1L1_ENST00000433384.2_Nonsense_Mutation_p.S88*|WHSC1L1_ENST00000316985.3_Nonsense_Mutation_p.S88*	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	88					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			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)			CTGATTATATGACTGGTATTT	0.408			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(262-264)tCa>tGa		Wolf-Hirschhorn syndrome candidate 1-like 1							219	204	209					8																	38205427		2203	4300	6503	SO:0001587	stop_gained	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205427G>C	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.263C>G	8.37:g.38205427G>C	ENSP00000313983:p.Ser88*					WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.S88*|WHSC1L1_ENST00000433384.2_Nonsense_Mutation_p.S88*|WHSC1L1_ENST00000316985.3_Nonsense_Mutation_p.S88*	p.S88*	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	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)		2	780	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	88					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Nonsense_Mutation	SNP	ENST00000317025.8	37	c.263C>G	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	37	6.469857	0.97594	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000527502;ENST00000316985;ENST00000529223	.	.	.	5.69	5.69	0.88448	.	0.542344	0.14944	U	0.289303	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	17.9873	0.89159	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	ENSP00000313410:S88X	S	-	2	0	WHSC1L1	38324584	0.987000	0.35691	0.995000	0.50966	0.938000	0.57974	5.754000	0.68743	2.658000	0.90341	0.655000	0.94253	TCA		0.408	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		15	393	0	0	0	1	0	15	393					C	38205427	G	C	38205427	4	2	487	1	0	0	0	0	0	1	0	0	17360	1294	45	5	4229	5	WHSC1L1	8	38205427	Nonsense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08	241484	38205427	108158595	26	32486											
PRKDC	5591	broad.mit.edu	37	chr8	48802925	48802925	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctccctcttgtgggcttgTtctgttacctgctgccccag	2	16	9	14	0	3	0	0	0	3	0	4	0	3	0	4	1	3	4	4	1	1	5			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr8:48802925T>C	ENST00000314191.2	-	33	4017	c.3961A>G	c.(3961-3963)Aca>Gca	p.T1321A	PRKDC_ENST00000338368.3_Missense_Mutation_p.T1321A|AC103686.1_ENST00000390136.2_RNA|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1322					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			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)			Caffeine(DB00201)	TGTGGGCTTGTTCTGTTACCT	0.478								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				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						c.(3961-3963)Aca>Gca	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							177	173	174					8																	48802925		1961	4142	6103	SO:0001583	missense	5591				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	g.chr8:48802925T>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3961A>G	8.37:g.48802925T>C	ENSP00000313420:p.Thr1321Ala					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.T1321A	p.T1321A	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			33	4017	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1322					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.3961A>G		.	.	.	.	.	.	.	.	.	.	T	6.861	0.528227	0.13127	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02345	4.39;4.33	5.15	0.725	0.18242	.	0.573168	0.19256	N	0.118781	T	0.01061	0.0035	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46400	-0.9194	10	0.19590	T	0.45	.	0.2047	0.00149	0.3381:0.2031:0.2518:0.207	.	1321;1322	E7EUY0;P78527	.;PRKDC_HUMAN	A	1321	ENSP00000313420:T1321A;ENSP00000345182:T1321A	ENSP00000313420:T1321A	T	-	1	0	PRKDC	48965478	0.909000	0.30893	0.054000	0.19295	0.001000	0.01503	1.567000	0.36407	0.281000	0.22233	-0.132000	0.14878	ACA		0.478	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		3	46	0	0	0	1	0	3	46					C	48802925	T	C	48802925	3	2	487	1	0	0	0	0	1	0	0	0	12521	1725	60	4	8642	4	PRKDC	8	48802925	Missense_Mutation	SNP	T	TCGA-ZG-A9LB-01A-11D-A41K-08	10597498	48802925	97561097	27	32487											
XKR4	114786	broad.mit.edu	37	chr8	56436491	56436491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtccatctccaacaaccGcagtgttgtcagcgaccgcg	9	7	10	15	5	2	0	1	0	1	0	4	1	3	0	4	1	3	2	4	1	2	1			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr8:56436491G>A	ENST00000327381.6	+	3	1758	c.1658G>A	c.(1657-1659)cGc>cAc	p.R553H	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	553						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCCAACAACCGCAGTGTTGTC	0.592																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1657-1659)cGc>cAc		XK, Kell blood group complex subunit-related family, member 4							66	68	68					8																	56436491		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436491G>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1658G>A	8.37:g.56436491G>A	ENSP00000328326:p.Arg553His						p.R553H	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1758	+			553					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1658G>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369632	0.61624	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.84730	-1.89	5.95	5.95	0.96441	.	0.366493	0.32655	N	0.005816	D	0.89989	0.6875	L	0.41492	1.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88742	0.3244	10	0.45353	T	0.12	0.8557	20.3931	0.98965	0.0:0.0:1.0:0.0	.	553	Q5GH76	XKR4_HUMAN	H	553	ENSP00000328326:R553H	ENSP00000328326:R553H	R	+	2	0	XKR4	56599045	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	7.876000	0.87215	2.824000	0.97209	0.655000	0.94253	CGC		0.592	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		4	82	0	0	0	1	0	4	82					A	56436491	G	A	56436491	3	1	487	1	0	0	0	0	1	0	0	0	17430	1087	38	1	1668	1	XKR4	8	56436491	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08	7633566	56436491	89927531	28	32488											
TRAPPC9	83696	broad.mit.edu	37	chr8	141381088	141381088	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaatctttgggatccagCgacagactgtagccgggcag	10	8	13	10	2	1	2	0	1	1	1	2	4	2	3	2	2	2	2	2	2	2	2	rs145960296	byFrequency	TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr8:141381088C>T	ENST00000438773.2	-	8	1459	c.1326G>A	c.(1324-1326)tcG>tcA	p.S442S	TRAPPC9_ENST00000389327.3_Silent_p.S433S|TRAPPC9_ENST00000389328.4_Silent_p.S540S	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	442					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TGGGATCCAGCGACAGACTGT	0.607													C|||	7	0.00139776	0	0	5008	,	,		18123	0		0.004	False		,,,				2504	0.0031					ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(1618-1620)tcG>tcA		trafficking protein particle complex 9		C	,	0,4406		0,0,2203	76	76	76		1326,1620	-11	0.1	8	dbSNP_134	76	14,8586	10.5+/-38.8	0,14,4286	no	coding-synonymous,coding-synonymous	TRAPPC9	NM_001160372.1,NM_031466.5	,	0,14,6489	TT,TC,CC		0.1628,0.0,0.1076	,	442/1149,540/1247	141381088	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141381088C>T	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1326G>A	8.37:g.141381088C>T						TRAPPC9_ENST00000389327.3_Silent_p.S433S|TRAPPC9_ENST00000438773.2_Silent_p.S442S	p.S540S	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			8	1634	-			442					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.1620G>A	CCDS55278.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	5.342	0.248417	0.10130	0.0	0.001628	ENSG00000167632	ENST00000520857	.	.	.	5.5	-11.0	0.00169	.	.	.	.	.	T	0.43433	0.1247	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57568	-0.7789	4	.	.	.	.	6.5116	0.22224	0.1196:0.4723:0.2128:0.1953	.	.	.	.	T	286	.	.	A	-	1	0	TRAPPC9	141450270	0.000000	0.05858	0.113000	0.21522	0.646000	0.38490	-5.205000	0.00141	-3.816000	0.00103	-1.006000	0.02489	GCT		0.607	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		8	131	0	0	0	1	0	8	131					T	141381088	C	T	141381088	2	4	487	1	0	0	0	0	0	0	0	1	16462	755	27	1		1	TRAPPC9	8	141381088	Silent	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08	84944597	141381088	4982934	29	32489											
GPR158	57512	broad.mit.edu	37	chr10	25887113	25887113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccacactggaatccctgtCgggtaaaaaactaacacaaa	16	8	6	11	1	0	0	0	0	0	0	3	1	2	1	2	2	2	1	2	2	6	3	rs372800397		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr10:25887113C>T	ENST00000376351.3	+	11	2917	c.2558C>T	c.(2557-2559)tCg>tTg	p.S853L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	853					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S853*(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAATCCCTGTCGGGTAAAAAA	0.502																																						ENST00000376351.3																			1	Substitution - Nonsense(1)	p.S853*(1)	lung(1)	breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2557-2559)tCg>tTg		G protein-coupled receptor 158		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	87	98	94		2558	4	0	10		94	0,8600		0,0,4300	no	missense	GPR158	NM_020752.2	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	853/1216	25887113	1,13005	2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887113C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2558C>T	10.37:g.25887113C>T	ENSP00000365529:p.Ser853Leu					GPR158_ENST00000490549.1_3'UTR	p.S853L	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	2917	+			853					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2558C>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.294074	0.23564	2.27E-4	0.0	ENSG00000151025	ENST00000376351	T	0.59364	0.27	5.79	3.95	0.45737	.	1.339440	0.05089	N	0.484832	T	0.31857	0.0810	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.30534	-0.9975	10	0.07325	T	0.83	.	6.666	0.23041	0.2463:0.6195:0.0:0.1342	.	853	Q5T848	GP158_HUMAN	L	853	ENSP00000365529:S853L	ENSP00000365529:S853L	S	+	2	0	GPR158	25927119	0.051000	0.20477	0.002000	0.10522	0.130000	0.20726	1.454000	0.35178	0.799000	0.34018	0.650000	0.86243	TCG		0.502	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		18	34	0	0	0	1	0	18	34					T	25887113	C	T	25887113	3	4	487	1	0	0	0	0	1	0	0	0	6663	893	31	2	2600	2	GPR158	10	25887113	Missense_Mutation	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08		25887113	109647634	30	32490											
GAD2	2572	broad.mit.edu	37	chr10	26581861	26581861	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgtctgcttctggtacAttcctccaagcttgcgtact	8	14	7	12	1	2	0	0	0	2	0	4	0	4	0	2	1	5	4	2	1	4	5			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr10:26581861A>T	ENST00000376261.3	+	15	2028	c.1525A>T	c.(1525-1527)Att>Ttt	p.I509F	GAD2_ENST00000259271.3_Missense_Mutation_p.I509F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	509					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTCTGGTACATTCCTCCAAG	0.453																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1525-1527)Att>Ttt		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						230	231	231					10																	26581861		2203	4300	6503	SO:0001583	missense	2572				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	g.chr10:26581861A>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1525A>T	10.37:g.26581861A>T	ENSP00000365437:p.Ile509Phe					GAD2_ENST00000259271.3_Missense_Mutation_p.I509F	p.I509F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			15	2028	+			509					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.1525A>T	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	A	8.693	0.907828	0.17833	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.38887	1.11;1.11	4.92	-0.929	0.10444	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.388553	0.28187	N	0.016276	T	0.33962	0.0881	M	0.64170	1.965	0.39710	D	0.971313	B	0.18610	0.029	B	0.18561	0.022	T	0.13150	-1.0520	10	0.56958	D	0.05	-5.9984	6.3064	0.21141	0.5229:0.1333:0.3437:0.0	.	509	Q05329	DCE2_HUMAN	F	509	ENSP00000365437:I509F;ENSP00000259271:I509F	ENSP00000259271:I509F	I	+	1	0	GAD2	26621867	0.221000	0.23642	0.001000	0.08648	0.240000	0.25518	0.713000	0.25794	-0.022000	0.13986	-0.912000	0.02778	ATT		0.453	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		71	96	0	0	0	1	0	71	96					T	26581861	A	T	26581861	3	4	487	1	0	0	0	0	1	0	0	0	6180	217	8	5	1583	5	GAD2	10	26581861	Missense_Mutation	SNP	A	TCGA-ZG-A9LB-01A-11D-A41K-08	694748	26581861	108952886	31	32491											
COL13A1	1305	broad.mit.edu	37	chr10	71634886	71634886	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcctccttcatcatcagggGgacaaaggtgccattgggat	9	10	12	10	0	3	0	3	0	0	0	4	2	4	2	3	4	2	0	3	4	1	2			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr10:71634886G>A	ENST00000398978.3	+	5	894	c.402G>A	c.(400-402)ggG>ggA	p.G134G	COL13A1_ENST00000398971.3_Silent_p.G134G|COL13A1_ENST00000356340.3_Silent_p.G134G|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000398973.3_Silent_p.G134G|COL13A1_ENST00000398964.3_Intron|COL13A1_ENST00000398966.3_Silent_p.G134G|COL13A1_ENST00000357811.3_Silent_p.G134G|COL13A1_ENST00000522165.1_Silent_p.G134G|COL13A1_ENST00000398968.3_Silent_p.G134G|COL13A1_ENST00000398972.3_Silent_p.G134G|COL13A1_ENST00000354547.3_Silent_p.G134G|COL13A1_ENST00000398974.3_Intron|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000517713.1_Silent_p.G134G	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						ATCATCAGGGGGACAAAGGTG	0.547																																						ENST00000356340.3																			0				endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(400-402)ggG>ggA		collagen, type XIII, alpha 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						199	209	206					10																	71634886		2165	4262	6427	SO:0001819	synonymous_variant	1305				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	g.chr10:71634886G>A	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"Collagens"	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.402G>A	10.37:g.71634886G>A						COL13A1_ENST00000398972.3_Silent_p.G134G|COL13A1_ENST00000398968.3_Silent_p.G134G|COL13A1_ENST00000398966.3_Silent_p.G134G|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000517713.1_Silent_p.G134G|COL13A1_ENST00000398971.3_Silent_p.G134G|COL13A1_ENST00000398974.3_Intron|COL13A1_ENST00000354547.3_Silent_p.G134G|COL13A1_ENST00000398973.3_Silent_p.G134G|COL13A1_ENST00000522165.1_Silent_p.G134G|COL13A1_ENST00000398964.3_Intron|COL13A1_ENST00000357811.3_Silent_p.G134G|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000398978.3_Silent_p.G134G	p.G134G			Q5TAT6	CODA1_HUMAN			4	938	+			134			Triple-helical region 1 (COL1).			Silent	SNP	ENST00000398978.3	37	c.402G>A	CCDS44419.1																																																																																				0.547	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		5	22	0	0	0	1	0	5	22					A	71634886	G	A	71634886	2	1	487	1	0	0	0	0	0	0	0	1	3670	1219	43	3		3	COL13A1	10	71634886	Silent	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08	45053025	71634886	63899861	32	32492											
ZFYVE27	118813	broad.mit.edu	37	chr10	99517472	99517472	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgcccaagtcctccatggGggccacaggtgagtggtgca	7	7	16	11	0	0	1	0	1	0	0	2	1	2	1	4	5	2	1	4	5	1	0			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr10:99517472G>C	ENST00000393677.4	+	12	1367	c.1163G>C	c.(1162-1164)gGg>gCg	p.G388A	ZFYVE27_ENST00000453958.2_3'UTR|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.G295A|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.G393A|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.G349A|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.G288A|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.G381A|ZFYVE27_ENST00000477521.1_3'UTR|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.G263A	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	388					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TCCTCCATGGGGGCCACAGGT	0.592																																						ENST00000393677.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(1162-1164)gGg>gCg		zinc finger, FYVE domain containing 27							95	92	93					10																	99517472		2203	4300	6503	SO:0001583	missense	118813				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	g.chr10:99517472G>C	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"Zinc fingers, FYVE domain containing"	26559	protein-coding gene	gene with protein product	"protrudin"	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.1163G>C	10.37:g.99517472G>C	ENSP00000377282:p.Gly388Ala					ZFYVE27_ENST00000357540.4_Missense_Mutation_p.G295A|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.G263A|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.G393A|ZFYVE27_ENST00000453958.2_3'UTR|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.G349A|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.G381A|ZFYVE27_ENST00000477521.1_3'UTR|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.G288A	p.G388A	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	12	1367	+		Colorectal(252;0.0846)	388					B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	37	c.1163G>C	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852084	0.91355	.	.	ENSG00000155256	ENST00000337540;ENST00000357540;ENST00000370613;ENST00000370610;ENST00000393677;ENST00000359980;ENST00000356257;ENST00000423811	T;T;T;T;T;T	0.51574	0.7;0.71;1.25;1.23;1.25;1.24	5.52	5.52	0.82312	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.66723	0.2818	L	0.56396	1.775	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.997;1.0;0.999;1.0;0.999	T	0.68561	-0.5376	10	0.87932	D	0	-37.6395	17.6242	0.88090	0.0:0.0:1.0:0.0	.	349;288;263;295;393;381;388	B7Z404;B7Z3S0;B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;.;.;ZFY27_HUMAN	A	349;295;263;288;388;381;393;371	ENSP00000337993:G349A;ENSP00000359642:G288A;ENSP00000377282:G388A;ENSP00000353069:G381A;ENSP00000348593:G393A;ENSP00000409594:G371A	ENSP00000337993:G349A	G	+	2	0	ZFYVE27	99507462	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.507000	0.90522	2.600000	0.87896	0.561000	0.74099	GGG		0.592	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		12	51	0	0	0	1	0	12	51					C	99517472	G	C	99517472	3	2	487	1	0	0	0	0	1	0	0	0	17666	1232	43	5	1220	5	ZFYVE27	10	99517472	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08	27882586	99517472	36017275	33	32493											
SAA2	6289	broad.mit.edu	37	chr11	18266952	18266952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcaggcaggccagcaggtCggaagtgattggggtctctg	7	9	16	9	1	2	1	1	1	2	0	5	2	2	2	1	6	1	2	1	6	1	1			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:18266952C>T	ENST00000526900.1	-	4	524	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	SAA2_ENST00000529528.1_Missense_Mutation_p.R114Q|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000530400.1_Intron|RNA5SP333_ENST00000363466.1_RNA|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000256733.4_Missense_Mutation_p.R114Q|SAA2-SAA4_ENST00000524555.1_RNA			P0DJI9	SAA2_HUMAN	serum amyloid A2	114					acute-phase response (GO:0006953)	extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						GCCAGCAGGTCGGAAGTGATT	0.577																																						ENST00000526900.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(340-342)cGa>cAa		serum amyloid A2							99	89	92					11																	18266952		2199	4293	6492	SO:0001583	missense	6289							g.chr11:18266952C>T	M26152	CCDS7833.1, CCDS44548.1	11p15.1-p14	2008-07-21			ENSG00000134339	ENSG00000134339			10514	protein-coding gene	gene with protein product		104751				7686132	Standard	NM_030754		Approved			P0DJI9	OTTHUMG00000166484	ENST00000526900.1:c.341G>A	11.37:g.18266952C>T	ENSP00000436126:p.Arg114Gln					SAA2_ENST00000414546.2_Intron|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000529528.1_Missense_Mutation_p.R114Q|SAA2_ENST00000528349.1_Intron|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000256733.4_Missense_Mutation_p.R114Q	p.R114Q							4	524	-								G3XAK9|P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000526900.1	37	c.341G>A	CCDS7833.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536467	0.85812	.	.	ENSG00000134339	ENST00000256733;ENST00000529528;ENST00000526900	T;T;T	0.20200	2.09;2.09;2.09	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000001	T	0.39517	0.1081	.	.	.	0.33946	D	0.643867	.	.	.	.	.	.	T	0.55289	-0.8164	7	0.87932	D	0	.	15.4329	0.75116	0.0:1.0:0.0:0.0	.	.	.	.	Q	114	ENSP00000256733:R114Q;ENSP00000437162:R114Q;ENSP00000436126:R114Q	ENSP00000256733:R114Q	R	-	2	0	SAA2	18223528	0.990000	0.36364	0.729000	0.30791	0.752000	0.42762	5.045000	0.64220	2.511000	0.84671	0.650000	0.86243	CGA		0.577	SAA2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389983.1	NM_030754		7	41	0	0	0	1	0	7	41					T	18266952	C	T	18266952	3	4	487	1	0	0	0	0	1	0	0	0	13799	884	31	2	57	2	SAA2	11	18266952	Missense_Mutation	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08		18266952	116739564	34	32494											
CCDC88B	283234	broad.mit.edu	37	chr11	64121525	64121525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggctgatgcggccccggCgggaggggggcccccctggg	4	3	21	13	3	0	2	0	1	0	1	0	3	0	3	5	8	1	1	5	8	0	0			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:64121525C>T	ENST00000356786.5	+	24	4026	c.3982C>T	c.(3982-3984)Cgg>Tgg	p.R1328W	CCDC88B_ENST00000359902.2_Intron|CCDC88B_ENST00000301897.4_Intron|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1328						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						gcggccccggcgggagggggg	0.741																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3982-3984)Cgg>Tgg		coiled-coil domain containing 88B							7	9	9					11																	64121525		2149	4215	6364	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64121525C>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3982C>T	11.37:g.64121525C>T	ENSP00000349238:p.Arg1328Trp					CCDC88B_ENST00000359902.2_Intron|CCDC88B_ENST00000301897.4_Intron|CCDC88B_ENST00000463837.1_3'UTR	p.R1328W	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			24	4026	+			1328					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.3982C>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	c	16.56	3.158293	0.57368	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.26223	1.75	2.88	0.626	0.17670	.	.	.	.	.	T	0.35335	0.0928	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.975;0.998	T	0.15263	-1.0443	9	0.87932	D	0	.	6.7883	0.23685	0.5046:0.4954:0.0:0.0	.	1328;1210;1328	B2RTU8;A6NC98-4;A6NC98	.;.;CC88B_HUMAN	W	1210;1328	ENSP00000349238:R1328W	ENSP00000349238:R1328W	R	+	1	2	CCDC88B	63878101	0.999000	0.42202	1.000000	0.80357	0.950000	0.60333	0.344000	0.19962	0.500000	0.27991	-0.521000	0.04368	CGG		0.741	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		12	9	0	0	0	1	0	12	9					T	64121525	C	T	64121525	3	4	487	1	0	0	0	0	1	0	0	0	2864	759	27	1	4076	1	CCDC88B	11	64121525	Missense_Mutation	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08	45854573	64121525	70884991	35	32495											
ZNHIT2	741	broad.mit.edu	37	chr11	64884693	64884693	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcgtcactacccggggcatTatccagctcctccagaagct	8	8	10	15	2	1	1	1	0	0	1	4	1	4	1	4	3	3	3	4	3	3	2			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:64884693T>G	ENST00000310597.4	-	1	477	c.433A>C	c.(433-435)Aat>Cat	p.N145H	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	145							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCCGGGGCATTATCCAGCTCC	0.736																																						ENST00000310597.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(433-435)Aat>Cat		zinc finger, HIT-type containing 2							10	14	12					11																	64884693		2065	4079	6144	SO:0001583	missense	741						metal ion binding	g.chr11:64884693T>G		CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"Zinc fingers, HIT-type"	1177	protein-coding gene	gene with protein product		604575	"chromosome 11 open reading frame 5", "zinc finger, HIT domain containing 2"	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.433A>C	11.37:g.64884693T>G	ENSP00000308548:p.Asn145His					AP003068.12_ENST00000527789.1_RNA	p.N145H	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN			1	477	-			145					Q3SY14|Q8IUV0	Missense_Mutation	SNP	ENST00000310597.4	37	c.433A>C	CCDS8094.1	.	.	.	.	.	.	.	.	.	.	T	1.768	-0.484985	0.04352	.	.	ENSG00000174276	ENST00000310597	T	0.30448	1.53	3.7	1.76	0.24704	.	1.266200	0.05363	U	0.533995	T	0.16557	0.0398	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24977	-1.0145	10	0.34782	T	0.22	-2.183	5.8634	0.18760	0.0:0.5117:0.3773:0.111	.	145	Q9UHR6	ZNHI2_HUMAN	H	145	ENSP00000308548:N145H	ENSP00000308548:N145H	N	-	1	0	ZNHIT2	64641269	0.000000	0.05858	0.025000	0.17156	0.068000	0.16541	0.432000	0.21461	0.249000	0.21456	-0.232000	0.12228	AAT		0.736	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1	NM_014205		3	10	0	0	0	1	0	3	10					G	64884693	T	G	64884693	3	3	487	1	0	0	0	0	1	0	0	0	18204	1754	61	5	782	5	ZNHIT2	11	64884693	Missense_Mutation	SNP	T	TCGA-ZG-A9LB-01A-11D-A41K-08	763168	64884693	70121823	36	32496											
SLC29A2	3177	broad.mit.edu	37	chr11	66133974	66133974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgattccggctccttCtccaggtcaagatccagggt	6	11	11	13	1	3	2	1	1	2	1	7	2	6	2	4	4	0	2	4	4	1	2	rs8187657		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:66133974C>A	ENST00000357440.2	-	8	1023	c.795G>T	c.(793-795)gaG>gaT	p.E265D	SLC29A2_ENST00000311161.7_Intron|SLC29A2_ENST00000546034.1_Missense_Mutation_p.E265D|SLC29A2_ENST00000544554.1_Missense_Mutation_p.E265D	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	265					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CCGGCTCCTTCTCCAGGTCAA	0.562																																						ENST00000357440.2																			0				breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(793-795)gaG>gaT		solute carrier family 29 (equilibrative nucleoside transporter), member 2							66	61	62					11																	66133974		2200	4295	6495	SO:0001583	missense	3177				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	g.chr11:66133974C>A	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"Solute carriers"	11004	protein-coding gene	gene with protein product		602110	"solute carrier family 29 (nucleoside transporters), member 2"	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.795G>T	11.37:g.66133974C>A	ENSP00000350024:p.Glu265Asp					SLC29A2_ENST00000546034.1_Missense_Mutation_p.E265D|SLC29A2_ENST00000311161.7_Intron|SLC29A2_ENST00000544554.1_Missense_Mutation_p.E265D	p.E265D	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN			8	1023	-			265					B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	ENST00000357440.2	37	c.795G>T	CCDS8137.1	.	.	.	.	.	.	.	.	.	.	C	8.467	0.856622	0.17106	.	.	ENSG00000174669	ENST00000357440;ENST00000544554;ENST00000546034	T;T;T	0.55760	0.5;0.5;0.5	4.4	2.51	0.30379	.	0.330822	0.28828	N	0.014009	T	0.41789	0.1174	L	0.32530	0.975	0.27026	N	0.964347	P	0.47545	0.897	P	0.48488	0.579	T	0.22906	-1.0203	10	0.15066	T	0.55	-11.4288	6.9268	0.24419	0.0:0.7879:0.0:0.2121	.	265	Q14542	S29A2_HUMAN	D	265	ENSP00000350024:E265D;ENSP00000439456:E265D;ENSP00000440329:E265D	ENSP00000350024:E265D	E	-	3	2	SLC29A2	65890550	0.997000	0.39634	0.978000	0.43139	0.016000	0.09150	0.795000	0.26972	0.610000	0.30035	0.551000	0.68910	GAG		0.562	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	NM_001532		14	38	1	0	5.01169e-05	1	5.07942e-05	14	38					A	66133974	C	A	66133974	3	1	487	1	0	0	0	0	1	0	0	0	14535	912	32	5	595	5	SLC29A2	11	66133974	Missense_Mutation	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08	1249281	66133974	68872542	37	32497											
ACY3	91703	broad.mit.edu	37	chr11	67410243	67410243	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgggcatggcaggcacGgtgaatgtgaacttctcagt	9	8	15	9	3	1	2	1	2	1	0	2	2	1	2	0	4	2	3	0	4	2	1	rs145815101	byFrequency	TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:67410243G>A	ENST00000255082.3	-	8	1082	c.912C>T	c.(910-912)acC>acT	p.T304T	ACY3_ENST00000529256.1_Silent_p.T183T	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	304	Shielding domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	TGGCAGGCACGGTGAATGTGA	0.577													G|||	8	0.00159744	0	0	5008	,	,		19722	0		0.001	False		,,,				2504	0.0072				GBM(56;346 1011 27014 29495 46841)	ENST00000255082.3																			0				endometrium(1)|lung(5)|prostate(2)	8						c.(910-912)acC>acT		aspartoacylase (aminocyclase) 3	L-Aspartic Acid(DB00128)	G		0,4400		0,0,2200	120	103	109		912	-8.2	0	11	dbSNP_134	109	7,8581	5.0+/-18.6	0,7,4287	no	coding-synonymous	ACY3	NM_080658.1		0,7,6487	AA,AG,GG		0.0815,0.0,0.0539		304/320	67410243	7,12981	2200	4294	6494	SO:0001819	synonymous_variant	91703				interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	g.chr11:67410243G>A	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.912C>T	11.37:g.67410243G>A						ACY3_ENST00000529256.1_Silent_p.T183T	p.T304T	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN			8	1082	-			304						Silent	SNP	ENST00000255082.3	37	c.912C>T	CCDS8175.1																																																																																				0.577	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1	NM_080658		5	56	0	0	0	1	0	5	56					A	67410243	G	A	67410243	2	1	487	1	0	0	0	0	0	0	0	1	227	1103	39	2		2	ACY3	11	67410243	Silent	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08	1276269	67410243	67596273	38	32498											
FAT3	120114	broad.mit.edu	37	chr11	92616460	92616460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgacagcccggcggggcGtggtcgtgtgcagtgtggcc	3	8	18	12	4	0	1	0	1	0	0	2	1	1	1	3	5	2	1	3	5	0	0			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:92616460G>A	ENST00000298047.6	+	23	12855	c.12838G>A	c.(12838-12840)Gtg>Atg	p.V4280M	FAT3_ENST00000409404.2_Missense_Mutation_p.V4280M|FAT3_ENST00000533797.1_Missense_Mutation_p.V615M|FAT3_ENST00000525166.1_Missense_Mutation_p.V4130M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4280					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)				CCGGCGGGGCGTGGTCGTGTG	0.662										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				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						c.(12838-12840)Gtg>Atg		FAT atypical cadherin 3							36	45	42					11																	92616460		2106	4206	6312	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616460G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12838G>A	11.37:g.92616460G>A	ENSP00000298047:p.Val4280Met	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.V4280M|FAT3_ENST00000533797.1_Missense_Mutation_p.V615M|FAT3_ENST00000525166.1_Missense_Mutation_p.V4130M	p.V4280M			Q8TDW7	FAT3_HUMAN			23	12855	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4280					B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12838G>A		.	.	.	.	.	.	.	.	.	.	G	26.2	4.715871	0.89112	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.89270	-1.03;-1.14;-1.04;-2.49	5.85	5.85	0.93711	.	.	.	.	.	D	0.94703	0.8291	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.69142	0.935;0.962	D	0.93987	0.7263	9	0.51188	T	0.08	.	20.161	0.98133	0.0:0.0:1.0:0.0	.	4280;4280	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	M	4280;4280;4130;615	ENSP00000298047:V4280M;ENSP00000387040:V4280M;ENSP00000432586:V4130M;ENSP00000436399:V615M	ENSP00000298047:V4280M	V	+	1	0	FAT3	92256108	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	7.891000	0.87319	2.770000	0.95276	0.655000	0.94253	GTG		0.662	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	47	0	0	0	1	0	6	47					A	92616460	G	A	92616460	3	1	487	1	0	0	0	0	1	0	0	0	5691	1145	40	1	12928	1	FAT3	11	92616460	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08	25206217	92616460	42390056	39	32499											
PTMS	5763	broad.mit.edu	37	chr12	6878832	6878834	+	In_Frame_Del	DEL	GTG	GTG	-																															ggaaagagcgaaagaaagaaGtggtggaggtgtggaggggt																										TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr12:6878832_6878834delGTG	ENST00000309083.6	+	2	438_440	c.109_111delGTG	c.(109-111)gtgdel	p.V38del	LAG3_ENST00000203629.2_5'Flank|PTMS_ENST00000389462.4_In_Frame_Del_p.V38del|LAG3_ENST00000441671.2_5'Flank|PTMS_ENST00000538057.1_3'UTR|MLF2_ENST00000539187.1_5'Flank	NM_002824.4	NP_002815.3	P20962	PTMS_HUMAN	parathymosin	38	Asp/Glu-rich (acidic).				DNA replication (GO:0006260)|immune system process (GO:0002376)	nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|liver(1)	5						aaagaaagaagtggtggaggTGT	0.547																																						ENST00000309083.6																			0				endometrium(2)|large_intestine(2)|liver(1)	5						c.(109-111)del		parathymosin																																				SO:0001651	inframe_deletion	5763				DNA replication	nucleus		g.chr12:6878832_6878834delGTG		CCDS8560.1	12p13	2008-07-10				ENSG00000159335			9629	protein-coding gene	gene with protein product		168440				15716277	Standard	NM_002824		Approved	ParaT	uc001qqq.3	P20962		ENST00000309083.6:c.109_111delGTG	12.37:g.6878835_6878837delGTG	ENSP00000310088:p.Val38del					PTMS_ENST00000538057.1_3'UTR|PTMS_ENST00000389462.4_In_Frame_Del_p.V38del	p.V38del	NM_002824.4	NP_002815.3	P20962	PTMS_HUMAN			2	438_440	+			38			Asp/Glu-rich (acidic).			In_Frame_Del	DEL	ENST00000309083.6	37	c.109_111delGTG	CCDS8560.1																																																																																				0.547	PTMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402841.1			12	19						12	19	---	---	---	---	-	6878834	GTG	-	6878832	7	5	487	1	0	1	0	1	0	0	0	0	12767	1029	36	0	115	0	PTMS	12	6878832	In_Frame_Del	DEL	GTG	TCGA-ZG-A9LB-01A-11D-A41K-08		6878832	126973063	40	32500											
LRRC23	10233	broad.mit.edu	37	chr12	7014862	7014862	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattctgagaaagaagaggAcgagaaggagacagaggagg	17	4	17	3	1	1	7	0	2	1	6	1	12	1	9	0	4	0	0	0	4	3	1			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr12:7014862A>G	ENST00000007969.8	+	2	285	c.65A>G	c.(64-66)gAc>gGc	p.D22G	LRRC23_ENST00000323702.5_Missense_Mutation_p.D22G|LRRC23_ENST00000436789.1_Missense_Mutation_p.D22G|LRRC23_ENST00000429740.1_Missense_Mutation_p.D22G|LRRC23_ENST00000433346.1_Missense_Mutation_p.D22G|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000443597.2_Missense_Mutation_p.D22G	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	22										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						aaagaagaggacgagaaggag	0.512																																						ENST00000007969.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						c.(64-66)gAc>gGc		leucine rich repeat containing 23							62	67	66					12																	7014862		2203	4300	6503	SO:0001583	missense	10233							g.chr12:7014862A>G	BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.65A>G	12.37:g.7014862A>G	ENSP00000007969:p.Asp22Gly					LRRC23_ENST00000323702.5_Missense_Mutation_p.D22G|LRRC23_ENST00000443597.2_Missense_Mutation_p.D22G|LRRC23_ENST00000436789.1_Missense_Mutation_p.D22G|LRRC23_ENST00000429740.1_Missense_Mutation_p.D22G|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000433346.1_Missense_Mutation_p.D22G	p.D22G	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN			2	285	+			22					A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Missense_Mutation	SNP	ENST00000007969.8	37	c.65A>G	CCDS8569.1	.	.	.	.	.	.	.	.	.	.	A	9.306	1.054376	0.19907	.	.	ENSG00000010626	ENST00000433346;ENST00000007969;ENST00000323702;ENST00000443597;ENST00000415834;ENST00000436789;ENST00000429740	T;T;T;T;T;T;T	0.66638	1.86;0.05;-0.22;0.05;0.86;1.9;1.44	4.74	3.54	0.40534	.	.	.	.	.	T	0.67135	0.2861	L	0.48642	1.525	0.24495	N	0.994286	D;D;P;P	0.54207	0.965;0.965;0.849;0.849	P;P;P;B	0.55871	0.786;0.786;0.478;0.305	T	0.53954	-0.8365	9	0.22706	T	0.39	-5.6563	7.3107	0.26473	0.8992:0.0:0.1008:0.0	.	22;22;22;22	E9PDZ4;Q53EV4-2;Q53EV4;C9JKE8	.;.;LRC23_HUMAN;.	G	22	ENSP00000402554:D22G;ENSP00000007969:D22G;ENSP00000317464:D22G;ENSP00000390932:D22G;ENSP00000408066:D22G;ENSP00000396049:D22G;ENSP00000397192:D22G	ENSP00000007969:D22G	D	+	2	0	LRRC23	6885123	0.671000	0.27521	0.843000	0.33291	0.142000	0.21351	2.890000	0.48609	0.789000	0.33779	0.459000	0.35465	GAC		0.512	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992		5	46	0	0	0	1	0	5	46					G	7014862	A	G	7014862	3	3	487	1	0	0	0	0	1	0	0	0	8978	275	10	4	67	4	LRRC23	12	7014862	Missense_Mutation	SNP	A	TCGA-ZG-A9LB-01A-11D-A41K-08	136030	7014862	126837033	41	32501											
OR8S1	341568	broad.mit.edu	37	chr12	48919555	48919555	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaacctgatgctgctgctCatgatcagggctgattcttg	9	12	11	9	0	3	3	2	3	1	0	3	4	3	3	1	1	4	4	1	1	2	2			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr12:48919555C>T	ENST00000310194.1	+	1	141	c.141C>T	c.(139-141)ctC>ctT	p.L47L	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TGCTGCTGCTCATGATCAGGG	0.498																																						ENST00000310194.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						c.(139-141)ctC>ctT		olfactory receptor, family 8, subfamily S, member 1							196	186	190					12																	48919555		2203	4300	6503	SO:0001819	synonymous_variant	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48919555C>T		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"GPCR / Class A : Olfactory receptors"	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.141C>T	12.37:g.48919555C>T						OR8S1_ENST00000551654.1_Intron	p.L47L	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN			1	141	+			47						Silent	SNP	ENST00000310194.1	37	c.141C>T	CCDS31789.1																																																																																				0.498	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			9	96	0	0	0	1	0	9	96					T	48919555	C	T	48919555	2	4	487	1	0	0	0	0	0	0	0	1	11246	813	29	3		3	OR8S1	12	48919555	Silent	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08	41904693	48919555	84932340	42	32502											
EPYC	1833	broad.mit.edu	37	chr12	91357953	91357953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttagacaaggctcccaacagGcagacgaggtagacacatgt	14	6	11	10	1	0	3	0	0	0	3	1	4	1	3	1	3	1	3	1	3	4	2			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr12:91357953G>A	ENST00000261172.3	-	7	1041	c.949C>T	c.(949-951)Cct>Tct	p.P317S		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	317					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CTCCCAACAGGCAGACGAGGT	0.393																																						ENST00000261172.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						c.(949-951)Cct>Tct		epiphycan							138	124	129					12																	91357953		2203	4300	6503	SO:0001583	missense	1833				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	g.chr12:91357953G>A	AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3053	protein-coding gene	gene with protein product	"epiphycan proteoglycan"	601657	"dermatan sulphate proteoglycan 3", "dermatan sulfate proteoglycan 3"	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.949C>T	12.37:g.91357953G>A	ENSP00000261172:p.Pro317Ser						p.P317S	NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN			7	1041	-			317					A8K3M7|Q8NEJ5	Missense_Mutation	SNP	ENST00000261172.3	37	c.949C>T	CCDS31870.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958176	0.92726	.	.	ENSG00000083782	ENST00000261172	T	0.59638	0.25	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82049	-0.0650	10	0.87932	D	0	.	19.579	0.95458	0.0:0.0:1.0:0.0	.	317	Q99645	EPYC_HUMAN	S	317	ENSP00000261172:P317S	ENSP00000261172:P317S	P	-	1	0	EPYC	89882084	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.476000	0.97823	2.617000	0.88574	0.591000	0.81541	CCT		0.393	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950		4	65	0	0	0	1	0	4	65					A	91357953	G	A	91357953	3	1	487	1	0	0	0	0	1	0	0	0	5201	1203	42	3	23	3	EPYC	12	91357953	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08	42438398	91357953	42493942	43	32503											
HPD	3242	broad.mit.edu	37	chr12	122277717	122277717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcgaaagccttgaacaGtgagttgaagttgccggctc	9	10	11	11	2	0	3	0	3	0	0	3	4	1	3	3	1	3	3	3	1	3	3			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr12:122277717G>T	ENST00000289004.4	-	14	1134	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M	HPD_ENST00000543163.1_Missense_Mutation_p.L328M	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	367					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GCCTTGAACAGTGAGTTGAAG	0.607																																						ENST00000543163.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18						c.(982-984)Ctg>Atg		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						79	80	80					12																	122277717		2203	4300	6503	SO:0001583	missense	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122277717G>T	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"glyoxalase domain containing 3"	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.1099C>A	12.37:g.122277717G>T	ENSP00000289004:p.Leu367Met					HPD_ENST00000289004.4_Missense_Mutation_p.L367M	p.L328M	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	15	1427	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		367					A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	c.982C>A	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411262	0.62399	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	D;D	0.81739	-1.53;-1.53	5.17	4.28	0.50868	.	0.000000	0.85682	D	0.000000	D	0.90837	0.7122	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91276	0.5048	10	0.87932	D	0	-21.6007	8.6747	0.34172	0.2856:0.0:0.7144:0.0	.	367	P32754	HPPD_HUMAN	M	367;364;328	ENSP00000289004:L367M;ENSP00000441677:L328M	ENSP00000289004:L367M	L	-	1	2	HPD	120762100	1.000000	0.71417	0.973000	0.42090	0.514000	0.34195	3.140000	0.50585	1.315000	0.45114	0.462000	0.41574	CTG		0.607	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		7	51	1	0	0.000157383	1	0.000157383	7	51					T	122277717	G	T	122277717	3	4	487	1	0	0	0	0	1	0	0	0	7332	1020	36	5	86	5	HPD	12	122277717	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08	30919764	122277717	11574178	44	32504											
FOXA1	3169	broad.mit.edu	37	chr14	38061329	38061329	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcattgaaggacagcgaGtggcggatggagttctgcca	10	8	15	8	2	2	1	1	1	1	0	2	5	2	4	1	4	2	1	1	4	1	2			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr14:38061329G>C	ENST00000250448.2	-	2	721	c.660C>G	c.(658-660)caC>caG	p.H220Q	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.H187Q	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	220					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AGGACAGCGAGTGGCGGATGG	0.607																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(658-660)caC>caG		forkhead box A1							48	48	48					14																	38061329		2203	4300	6503	SO:0001583	missense	3169				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	g.chr14:38061329G>C	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.660C>G	14.37:g.38061329G>C	ENSP00000250448:p.His220Gln					FOXA1_ENST00000540786.1_Missense_Mutation_p.H187Q|FOXA1_ENST00000545425.2_5'UTR	p.H220Q	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	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)	2	721	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		220					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.660C>G	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751719	0.69533	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.97688	-4.49;-4.49	4.0	3.0	0.34707	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98988	0.9655	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98406	1.0570	10	0.87932	D	0	.	10.6821	0.45821	0.1163:0.0:0.8837:0.0	.	220	P55317	FOXA1_HUMAN	Q	220;187	ENSP00000250448:H220Q;ENSP00000440178:H187Q	ENSP00000250448:H220Q	H	-	3	2	FOXA1	37131080	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.081000	0.50120	2.057000	0.61298	0.400000	0.26472	CAC		0.607	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			22	33	0	0	0	1	0	22	33					C	38061329	G	C	38061329	3	2	487	1	0	0	0	0	1	0	0	0	5989	1020	36	5	762	5	FOXA1	14	38061329	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08		38061329	69288211	45	32505											
SAMD4A	23034	broad.mit.edu	37	chr14	55241684	55241684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatccaactccctcccgaCggctggctctgtgggcggtg	5	8	13	15	3	1	0	0	0	1	0	4	1	4	0	3	4	1	3	3	4	2	0			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr14:55241684C>T	ENST00000554335.1	+	10	2411	c.1748C>T	c.(1747-1749)aCg>aTg	p.T583M	SAMD4A_ENST00000251091.5_Missense_Mutation_p.T495M|SAMD4A_ENST00000555192.1_Missense_Mutation_p.T174M|SAMD4A_ENST00000357634.3_Missense_Mutation_p.T582M|SAMD4A_ENST00000392067.3_Missense_Mutation_p.T583M			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	583					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TCCCTCCCGACGGCTGGCTCT	0.607																																						ENST00000251091.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						c.(1483-1485)aCg>aTg		sterile alpha motif domain containing 4A							50	50	50					14																	55241684		2203	4300	6503	SO:0001583	missense	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55241684C>T	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"Sterile alpha motif (SAM) domain containing"	23023	protein-coding gene	gene with protein product	"smaug homolog (Drosophila)"	610747	"sterile alpha motif domain containing 4"	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1748C>T	14.37:g.55241684C>T	ENSP00000452535:p.Thr583Met					SAMD4A_ENST00000554335.1_Missense_Mutation_p.T583M|SAMD4A_ENST00000392067.3_Missense_Mutation_p.T583M|SAMD4A_ENST00000357634.3_Missense_Mutation_p.T582M|SAMD4A_ENST00000555192.1_Missense_Mutation_p.T174M	p.T495M	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN			8	1789	+			583					A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	c.1484C>T	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209960	0.58343	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634;ENST00000555192	.	.	.	5.33	5.33	0.75918	.	0.053759	0.64402	D	0.000001	T	0.77471	0.4135	M	0.62723	1.935	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;0.999	D;D;P	0.79784	0.993;0.967;0.908	T	0.75124	-0.3428	9	0.40728	T	0.16	-7.4993	19.2123	0.93760	0.0:1.0:0.0:0.0	.	174;495;583	G3V2R1;Q9UPU9-3;Q9UPU9	.;.;SMAG1_HUMAN	M	583;583;495;494;582;174	.	ENSP00000251091:T212M	T	+	2	0	SAMD4A	54311434	1.000000	0.71417	0.329000	0.25429	0.270000	0.26580	7.254000	0.78329	2.771000	0.95319	0.561000	0.74099	ACG		0.607	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		4	44	0	0	0	1	0	4	44					T	55241684	C	T	55241684	3	4	487	1	0	0	0	0	1	0	0	0	13821	536	19	1	1779	1	SAMD4A	14	55241684	Missense_Mutation	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08	17180355	55241684	52107856	46	32506											
TRIP11	9321	broad.mit.edu	37	chr14	92471719	92471719	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccctgagtcgttccaattcTtcttgcagatgattattttc	7	18	6	10	1	2	3	0	2	2	1	6	3	4	3	2	0	1	2	2	0	2	7			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr14:92471719T>G	ENST00000267622.4	-	11	2974	c.2601A>C	c.(2599-2601)gaA>gaC	p.E867D		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	867					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			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)		GTTCCAATTCTTCTTGCAGAT	0.418			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				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						c.(2599-2601)gaA>gaC		thyroid hormone receptor interactor 11							135	121	125					14																	92471719		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471719T>G	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2601A>C	14.37:g.92471719T>G	ENSP00000267622:p.Glu867Asp						p.E867D	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	2974	-			867					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2601A>C	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.492653	0.26774	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.12984	2.63	6.04	1.11	0.20524	.	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	M	0.66939	2.045	0.42940	D	0.994349	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.00692	-1.1607	10	0.41790	T	0.15	.	9.3718	0.38258	0.0:0.2711:0.0:0.7289	.	603;867	F5H1Z0;Q15643	.;TRIPB_HUMAN	D	867;603	ENSP00000267622:E867D	ENSP00000267622:E867D	E	-	3	2	TRIP11	91541472	1.000000	0.71417	0.750000	0.31169	0.053000	0.15095	0.821000	0.27338	-0.035000	0.13691	0.460000	0.39030	GAA		0.418	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			33	42	0	0	0	1	0	33	42					G	92471719	T	G	92471719	3	3	487	1	0	0	0	0	1	0	0	0	16552	1606	56	5	3382	5	TRIP11	14	92471719	Missense_Mutation	SNP	T	TCGA-ZG-A9LB-01A-11D-A41K-08	37230035	92471719	14877821	47	32507											
MYO9A	4649	broad.mit.edu	37	chr15	72292256	72292256	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcttccttgtaactaatGcttcaaatagcatctcttct	9	16	4	12	1	4	0	1	0	3	0	6	0	5	0	2	0	3	3	2	0	4	7			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr15:72292256G>C	ENST00000356056.5	-	9	1878	c.1406C>G	c.(1405-1407)gCa>gGa	p.A469G	MYO9A_ENST00000566885.1_Missense_Mutation_p.A64G|MYO9A_ENST00000424560.1_Missense_Mutation_p.A469G|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.A450G|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.A469G	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	469	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTAACTAATGCTTCAAATAG	0.328																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(1405-1407)gCa>gGa		myosin IXA							143	131	135					15																	72292256		2199	4297	6496	SO:0001583	missense	4649				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	g.chr15:72292256G>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.1406C>G	15.37:g.72292256G>C	ENSP00000348349:p.Ala469Gly					MYO9A_ENST00000424560.1_Missense_Mutation_p.A469G|MYO9A_ENST00000444904.1_Missense_Mutation_p.A450G|MYO9A_ENST00000566885.1_Missense_Mutation_p.A64G|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.A469G|RP11-390D11.1_ENST00000568391.1_RNA	p.A469G	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			9	1878	-			469			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.1406C>G	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352386	0.82132	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.88975	-2.45;-2.45;-2.45	5.73	5.73	0.89815	Myosin head, motor domain (2);	.	.	.	.	D	0.94059	0.8096	M	0.70842	2.15	0.80722	D	1	P;D;D;B	0.76494	0.743;0.997;0.999;0.152	B;D;D;B	0.69142	0.423;0.936;0.962;0.175	D	0.93991	0.7267	9	0.66056	D	0.02	.	19.4942	0.95065	0.0:0.0:1.0:0.0	.	450;469;450;469	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	G	469;469;450;450;469	ENSP00000348349:A469G;ENSP00000399162:A469G;ENSP00000398250:A450G	ENSP00000261864:A450G	A	-	2	0	MYO9A	70079310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.145000	0.94634	2.706000	0.92434	0.557000	0.71058	GCA		0.328	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		3	43	0	0	0	1	0	3	43					C	72292256	G	C	72292256	3	2	487	1	0	0	0	0	1	0	0	0	10084	1319	46	5	6376	5	MYO9A	15	72292256	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08		72292256	30239136	48	32508											
TM2D3	80213	broad.mit.edu	37	chr15	102182733	102182733	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatagccaactccaatgagCaggacgtctatcagcgtcca	13	7	8	13	2	2	1	1	1	1	0	4	2	4	2	3	1	4	1	3	1	4	2	rs183173353		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr15:102182733C>T	ENST00000333202.3	-	6	698	c.693G>A	c.(691-693)ctG>ctA	p.L231L	TM2D3_ENST00000347970.3_Silent_p.L205L|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000559107.1_Intron|TM2D3_ENST00000561373.1_Silent_p.L166L	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	231						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	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)			CTCCAATGAGCAGGACGTCTA	0.537																																						ENST00000561373.1																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10						c.(496-498)ctG>ctA		TM2 domain containing 3							115	113	114					15																	102182733		2203	4300	6503	SO:0001819	synonymous_variant	80213					integral to membrane		g.chr15:102182733C>T	AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.693G>A	15.37:g.102182733C>T						TM2D3_ENST00000333202.3_Silent_p.L231L|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000347970.3_Silent_p.L205L|TM2D3_ENST00000559107.1_Intron	p.L166L			Q9BRN9	TM2D3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	1054	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		231					B2RDK9|Q9H046|Q9H651	Silent	SNP	ENST00000333202.3	37	c.498G>A	CCDS10393.1																																																																																				0.537	TM2D3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313623.1	NM_078474		15	22	0	0	0	1	0	15	22					T	102182733	C	T	102182733	2	4	487	1	0	0	0	0	0	0	0	1	15962	697	25	3		3	TM2D3	15	102182733	Silent	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08	29890477	102182733	348659	49	32509											
MEFV	4210	broad.mit.edu	37	chr16	3306350	3306350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctcctcggccagcaggcGctggttgatggcccgcagga	6	6	16	13	3	0	1	0	1	0	0	2	3	1	2	3	5	2	5	3	5	0	1			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr16:3306350G>A	ENST00000219596.1	-	1	277	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	MEFV_ENST00000541159.1_Missense_Mutation_p.R80C|MEFV_ENST00000339854.4_Missense_Mutation_p.R80C|MEFV_ENST00000536379.1_Missense_Mutation_p.R80C	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	80	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GCCAGCAGGCGCTGGTTGATG	0.642																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(238-240)Cgc>Tgc		Mediterranean fever	Colchicine(DB01394)						31	33	33					16																	3306350		2197	4298	6495	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3306350G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.238C>T	16.37:g.3306350G>A	ENSP00000219596:p.Arg80Cys					MEFV_ENST00000541159.1_Missense_Mutation_p.R80C|MEFV_ENST00000339854.4_Missense_Mutation_p.R80C|MEFV_ENST00000536379.1_Missense_Mutation_p.R80C	p.R80C	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			1	277	-			80			DAPIN.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.238C>T	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257300	0.59321	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.98	-0.459	0.12179	Pyrin (2);DEATH-like (2);	0.874589	0.09830	N	0.750314	T	0.56366	0.1980	L	0.57536	1.79	0.18873	N	0.999983	D	0.89917	1.0	D	0.64506	0.926	T	0.45498	-0.9257	10	0.87932	D	0	-37.8531	4.6656	0.12664	0.0769:0.1072:0.396:0.4199	.	80	O15553	MEFV_HUMAN	C	80	ENSP00000219596:R80C;ENSP00000339639:R80C;ENSP00000438711:R80C;ENSP00000445079:R80C	ENSP00000219596:R80C	R	-	1	0	MEFV	3246351	0.356000	0.24930	0.654000	0.29608	0.737000	0.42083	0.350000	0.20079	0.052000	0.16007	0.591000	0.81541	CGC		0.642	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		4	24	0	0	0	1	0	4	24					A	3306350	G	A	3306350	3	1	487	1	0	0	0	0	1	0	0	0	9459	1087	38	1	2147	1	MEFV	16	3306350	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08		3306350	87048403	50	32510											
OR2C1	4993	broad.mit.edu	37	chr16	3405944	3405944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgaagacaaccagtgatgGacggggtgaatgatagctcc	13	7	13	8	1	0	5	0	4	0	1	1	6	1	6	2	3	2	1	2	3	4	1			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr16:3405944G>T	ENST00000304936.2	+	1	56	c.4G>T	c.(4-6)Gac>Tac	p.D2Y		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	2					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ACCAGTGATGGACGGGGTGAA	0.458																																						ENST00000304936.2																			0				kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(4-6)Gac>Tac		olfactory receptor, family 2, subfamily C, member 1							69	64	66					16																	3405944		2197	4300	6497	SO:0001583	missense	4993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3405944G>T	AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"GPCR / Class A : Olfactory receptors"	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.4G>T	16.37:g.3405944G>T	ENSP00000307726:p.Asp2Tyr						p.D2Y	NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN			1	56	+			2					A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	ENST00000304936.2	37	c.4G>T	CCDS10502.1	.	.	.	.	.	.	.	.	.	.	g	10.57	1.388652	0.25118	.	.	ENSG00000168158	ENST00000304936	T	0.03124	4.04	4.49	1.34	0.21922	.	2.094040	0.02646	N	0.105892	T	0.05181	0.0138	L	0.49778	1.585	0.18873	N	0.999983	P	0.34462	0.454	B	0.28232	0.087	T	0.39313	-0.9620	10	0.72032	D	0.01	.	6.3037	0.21127	0.1815:0.1538:0.6648:0.0	.	2	O95371	OR2C1_HUMAN	Y	2	ENSP00000307726:D2Y	ENSP00000307726:D2Y	D	+	1	0	OR2C1	3345945	0.369000	0.25039	0.040000	0.18447	0.015000	0.08874	0.461000	0.21940	0.503000	0.28060	0.509000	0.49947	GAC		0.458	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3			5	24	1	0	1.23904e-05	1	1.27299e-05	5	24					T	3405944	G	T	3405944	3	4	487	1	0	0	0	0	1	0	0	0	10992	1174	41	5	6	5	OR2C1	16	3405944	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08	99594	3405944	86948809	51	32511											
ZNF276	92822	broad.mit.edu	37	chr16	89789911	89789911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccatgggacaaagagaCggcgccacggctgccccagc	9	3	15	14	3	0	1	0	0	0	1	0	3	0	2	4	4	2	1	4	4	1	0			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr16:89789911C>T	ENST00000443381.2	+	4	897	c.800C>T	c.(799-801)aCg>aTg	p.T267M	ZNF276_ENST00000446326.2_Missense_Mutation_p.R64W|ZNF276_ENST00000289816.5_Missense_Mutation_p.T192M|VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000568064.1_Missense_Mutation_p.R186W	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GACAAAGAGACGGCGCCACGG	0.647																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(574-576)aCg>aTg		zinc finger protein 276																																				SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89789911C>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.800C>T	16.37:g.89789911C>T	ENSP00000415836:p.Thr267Met					ZNF276_ENST00000446326.2_Missense_Mutation_p.R64W|ZNF276_ENST00000443381.2_Missense_Mutation_p.T267M|ZNF276_ENST00000568064.1_Missense_Mutation_p.R186W	p.T192M	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	4	887	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	267					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.575C>T	CCDS45554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.930|3.930	-0.016440|-0.016440	0.07681|0.07681	.|.	.|.	ENSG00000158805|ENSG00000158805	ENST00000446326|ENST00000289816;ENST00000443381	T|T;T	0.06768|0.05855	3.26|3.38;3.44	5.42|5.42	-3.11|-3.11	0.05299|0.05299	.|.	.|1.301590	.|0.04820	.|N	.|0.436803	T|T	0.05090|0.05090	0.0136|0.0136	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B|B;B	0.09022|0.21309	0.002|0.017;0.054	B|B;B	0.01281|0.09377	0.0|0.004;0.003	T|T	0.42481|0.42481	-0.9449|-0.9449	9|10	0.87932|0.30078	D|T	0|0.28	0.1656|0.1656	7.4899|7.4899	0.27456|0.27456	0.0:0.3435:0.1176:0.5388|0.0:0.3435:0.1176:0.5388	.|.	64|105;267	A8K186|B4DIT3;Q8N554	.|.;ZN276_HUMAN	W|M	64|192;267	ENSP00000415999:R64W|ENSP00000289816:T192M;ENSP00000415836:T267M	ENSP00000415999:R64W|ENSP00000289816:T192M	R|T	+|+	1|2	2|0	ZNF276|ZNF276	88317412|88317412	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.380000|0.380000	0.30137|0.30137	-0.685000|-0.685000	0.05167|0.05167	-0.944000|-0.944000	0.03686|0.03686	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.647	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		7	10	0	0	0	1	0	7	10					T	89789911	C	T	89789911	3	4	487	1	0	0	0	0	1	0	0	0	17808	536	19	1	814	1	ZNF276	16	89789911	Missense_Mutation	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08	86383967	89789911	564842	52	32512											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs397516437|rs121912651		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(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	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	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)				TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	20	0	0	0	1	0	16	20					A	7577539	G	A	7577539	3	1	487	1	0	0	0	0	1	0	0	0	16378	1115	39	2	548	2	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08		7577539	73617671	53	32513											
MYH8	4626	broad.mit.edu	37	chr17	10298623	10298623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctctgcattgtctccaCgactctagtgtggtttctct	4	16	9	12	2	4	0	0	0	4	0	6	1	4	0	1	1	2	3	1	1	1	3	rs369298245		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr17:10298623C>T	ENST00000403437.2	-	34	4883	c.4789G>A	c.(4789-4791)Gtg>Atg	p.V1597M	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1597					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTGTCTCCACGACTCTAGTG	0.413									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(4789-4791)Gtg>Atg		myosin, heavy chain 8, skeletal muscle, perinatal							215	178	191					17																	10298623		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10298623C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4789G>A	17.37:g.10298623C>T	ENSP00000384330:p.Val1597Met					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.V1597M	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			34	4883	-			1597					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4789G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953573	0.34471	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.79033	-1.23	4.85	2.87	0.33458	Myosin tail (1);	0.194151	0.24611	N	0.037044	T	0.61337	0.2339	N	0.21448	0.665	0.37454	D	0.914943	B	0.21753	0.06	B	0.23150	0.044	T	0.56282	-0.8005	10	0.36615	T	0.2	.	7.0757	0.25203	0.0:0.7073:0.1404:0.1523	.	1597	P13535	MYH8_HUMAN	M	1597	ENSP00000384330:V1597M	ENSP00000252173:V1597M	V	-	1	0	MYH8	10239348	0.221000	0.23642	0.538000	0.28064	0.918000	0.54935	0.742000	0.26216	0.652000	0.30806	0.650000	0.86243	GTG		0.413	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		14	54	0	0	0	1	0	14	54					T	10298623	C	T	10298623	3	4	487	1	0	0	0	0	1	0	0	0	10041	536	19	1	1052	1	MYH8	17	10298623	Missense_Mutation	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08	2721084	10298623	70896587	54	32514											
ACCN1	40	broad.mit.edu	37	chr17	31618456	31618456	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcggcccgcagagctcGccgcggtacttgcaggagag	6	7	16	12	5	0	2	0	0	0	2	1	3	0	2	2	3	4	4	2	3	1	3			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr17:31618456G>A	ENST00000359872.6	-	2	1317				ASIC2_ENST00000225823.2_Silent_p.G226G|ASIC2_ENST00000448983.1_5'UTR	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CGCAGAGCTCGCCGCGGTACT	0.682																																						ENST00000225823.2																			0											c.(676-678)ggC>ggT		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						23	26	25					17																	31618456		2192	4278	6470	SO:0001627	intron_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31618456G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-179371C>T	17.37:g.31618456G>A						ASIC2_ENST00000359872.6_Intron|ASIC2_ENST00000448983.1_5'UTR	p.G226G	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN			1	1550	-			175					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.678C>T	CCDS42296.1																																																																																				0.682	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		6	36	0	0	0	1	0	6	36					A	31618456	G	A	31618456	1	1	487	0	1	0	0	0	0	0	0	0	128	1074	38	1		1	ACCN1	17	31618456	Intron	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08	21319833	31618456	49576754	55	32515											
KRT25	147183	broad.mit.edu	37	chr17	38910708	38910708	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcattagcattgctggtggTggatgcgatgatctagaaat	11	12	13	5	1	1	2	0	1	1	1	1	4	1	3	0	3	4	3	0	3	3	3			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr17:38910708T>C	ENST00000312150.4	-	2	502	c.442A>G	c.(442-444)Acc>Gcc	p.T148A		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTGCTGGTGGTGGATGCGATG	0.373																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(442-444)Acc>Gcc		keratin 25							132	127	129					17																	38910708		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38910708T>C	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.442A>G	17.37:g.38910708T>C	ENSP00000310573:p.Thr148Ala						p.T148A	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			2	502	-		Breast(137;0.00526)	148			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000312150.4	37	c.442A>G	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.843059	0.71488	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.88586	-2.4	5.91	5.91	0.95273	Filament (1);	0.000000	0.64402	D	0.000004	D	0.91422	0.7293	M	0.73962	2.25	0.38517	D	0.948613	P	0.46277	0.875	P	0.51742	0.678	D	0.92871	0.6314	10	0.66056	D	0.02	.	11.4289	0.50027	0.1346:0.0:0.0:0.8654	.	148	Q7Z3Z0	K1C25_HUMAN	A	148	ENSP00000310573:T148A	ENSP00000310573:T148A	T	-	1	0	KRT25	36164234	0.999000	0.42202	1.000000	0.80357	0.701000	0.40568	1.599000	0.36751	2.261000	0.74972	0.533000	0.62120	ACC		0.373	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		4	36	0	0	0	1	0	4	36					C	38910708	T	C	38910708	3	2	487	1	0	0	0	0	1	0	0	0	8462	1696	59	4	938	4	KRT25	17	38910708	Missense_Mutation	SNP	T	TCGA-ZG-A9LB-01A-11D-A41K-08	7292252	38910708	42284502	56	32516											
MYCBPAP	84073	broad.mit.edu	37	chr17	48600356	48600356	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctagaaggcgagaaaacCtcctcagaactgactgtggt	13	7	10	11	1	1	4	1	1	0	3	2	5	2	4	3	2	2	0	3	2	5	1			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr17:48600356C>A	ENST00000323776.5	+	11	1605	c.1443C>A	c.(1441-1443)acC>acA	p.T481T	MYCBPAP_ENST00000436259.2_Silent_p.T444T	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GCGAGAAAACCTCCTCAGAAC	0.512																																						ENST00000323776.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31						c.(1441-1443)acC>acA		MYCBP associated protein							106	104	104					17																	48600356		2203	4300	6503	SO:0001819	synonymous_variant	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48600356C>A	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1443C>A	17.37:g.48600356C>A						MYCBPAP_ENST00000436259.2_Silent_p.T444T	p.T481T	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		11	1605	+	Breast(11;1.23e-18)		444						Silent	SNP	ENST00000323776.5	37	c.1443C>A	CCDS32680.2																																																																																				0.512	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		21	63	1	0	2.89027e-11	1	3.0107e-11	21	63					A	48600356	C	A	48600356	2	1	487	1	0	0	0	0	0	0	0	1	10019	668	24	5		5	MYCBPAP	17	48600356	Silent	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08	9689648	48600356	32594854	57	32517											
KCNH6	81033	broad.mit.edu	37	chr17	61615448	61615448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgatgtacgccagcatcttCgggaacgtgtccgcgatcat	8	10	11	12	5	2	1	1	1	1	0	4	3	3	2	2	1	3	2	2	1	2	2			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr17:61615448C>T	ENST00000583023.1	+	7	1535	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	KCNH6_ENST00000314672.5_Silent_p.F508F|KCNH6_ENST00000456941.2_Silent_p.F455F|KCNH6_ENST00000581784.1_Silent_p.F455F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	508					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCAGCATCTTCGGGAACGTGT	0.657																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1522-1524)ttC>ttT		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						39	37	38					17																	61615448		2203	4300	6503	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61615448C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1524C>T	17.37:g.61615448C>T						KCNH6_ENST00000456941.2_Silent_p.F455F|KCNH6_ENST00000581784.1_Silent_p.F455F|KCNH6_ENST00000314672.5_Silent_p.F508F	p.F508F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			7	1535	+			508					Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.1524C>T	CCDS11638.1																																																																																				0.657	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		7	16	0	0	0	1	0	7	16					T	61615448	C	T	61615448	2	4	487	1	0	0	0	0	0	0	0	1	8036	883	31	2		2	KCNH6	17	61615448	Silent	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08	13015092	61615448	19579762	58	32518											
PIK3C3	5289	broad.mit.edu	37	chr18	39623766	39623767	+	Frame_Shift_Ins	INS	-	-	A																															tgctgaggtcatggacacttINSacgttaaaagctgtggtaag																										TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr18:39623766_39623767insA	ENST00000262039.4	+	20	2259_2260	c.2173_2174insA	c.(2173-2175)tacfs	p.Y725fs	PIK3C3_ENST00000589056.1_Frame_Shift_Ins_p.Y72fs|PIK3C3_ENST00000587402.1_Frame_Shift_Ins_p.Y72fs|PIK3C3_ENST00000398870.3_Frame_Shift_Ins_p.Y662fs|PIK3C3_ENST00000593098.1_Frame_Shift_Ins_p.Y210fs	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	725	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CATGGACACTTACGTTAAAAGC	0.347										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	ENST00000262039.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						c.(2173-2175)cgtfs		phosphatidylinositol 3-kinase, catalytic subunit type 3																																				SO:0001589	frameshift_variant	5289				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	g.chr18:39623766_39623767insA	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"phosphoinositide-3-kinase, class 3"			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2174dupA	18.37:g.39623767_39623767dupA	ENSP00000262039:p.Tyr725fs	TSP Lung(28;0.18)				PIK3C3_ENST00000398870.3_Frame_Shift_Ins_p.R662fs|PIK3C3_ENST00000589056.1_Frame_Shift_Ins_p.R72fs|PIK3C3_ENST00000587402.1_Frame_Shift_Ins_p.R72fs|PIK3C3_ENST00000593098.1_Frame_Shift_Ins_p.R210fs	p.R725fs	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN			20	2259_2260	+			725			PI3K/PI4K.		Q15134	Frame_Shift_Ins	INS	ENST00000262039.4	37	c.2173_2174insA	CCDS11920.1																																																																																				0.347	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		10	42						10	42	---	---	---	---	A	39623767	-	A	39623766	7	5	487	1	0	1	1	0	0	0	0	0	11912	1754	61	0	2251	0	PIK3C3	18	39623766	Frame_Shift_Ins	INS	-	TCGA-ZG-A9LB-01A-11D-A41K-08		39623766	38453482	59	32519											
DOT1L	84444	broad.mit.edu	37	chr19	2222434	2222434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgcaggcgcggccggcGgaagcgagcatctgcgggga	7	3	19	12	7	1	0	0	0	1	0	2	3	1	2	1	6	3	2	1	6	1	0			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr19:2222434G>A	ENST00000398665.3	+	24	3302	c.3266G>A	c.(3265-3267)cGg>cAg	p.R1089Q		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1089					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGGCCGGCGGAAGCGAGCA	0.726																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(3265-3267)cGg>cAg		DOT1-like histone H3K79 methyltransferase							9	11	11					19																	2222434		1945	4057	6002	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2222434G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3266G>A	19.37:g.2222434G>A	ENSP00000381657:p.Arg1089Gln						p.R1089Q	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	24	3302	+		Hepatocellular(1079;0.137)	1089					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.3266G>A	CCDS42460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.092250|4.092250	0.76756|0.76756	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000440640|ENST00000398665;ENST00000221482	.|T	.|0.49432	.|0.78	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68348|0.68348	0.2991|0.2991	M|M	0.70275|0.70275	2.135|2.135	0.44515|0.44515	D|D	0.997467|0.997467	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.78314	.|0.991;0.99	T|T	0.72928|0.72928	-0.4143|-0.4143	5|10	.|0.87932	.|D	.|0	-34.7602|-34.7602	17.0644|17.0644	0.86556|0.86556	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1089;1089	.|Q8TEK3;Q8TEK3-2	.|DOT1L_HUMAN;.	R|Q	876|1089	.|ENSP00000381657:R1089Q	.|ENSP00000221482:R1089Q	G|R	+|+	1|2	0|0	DOT1L|DOT1L	2173434|2173434	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.060000|0.060000	0.15804|0.15804	6.537000|6.537000	0.73847|0.73847	2.274000|2.274000	0.75844|0.75844	0.462000|0.462000	0.41574|0.41574	GGA|CGG		0.726	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		8	12	0	0	0	1	0	8	12					A	2222434	G	A	2222434	3	1	487	1	0	0	0	0	1	0	0	0	4709	1116	39	2	3360	2	DOT1L	19	2222434	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08		2222434	56906549	60	32520											
LTBP4	8425	broad.mit.edu	37	chr19	41132932	41132932	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccccgcatatagccccccGcgaccaggtggctttggact	6	7	10	18	3	0	0	0	0	0	0	0	2	0	1	7	3	1	2	7	3	2	3			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr19:41132932G>A	ENST00000308370.7	+	32	4236	c.4236G>A	c.(4234-4236)ccG>ccA	p.P1412P	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000204005.9_Silent_p.P1375P|LTBP4_ENST00000396819.3_Silent_p.P1345P|LTBP4_ENST00000545697.1_Silent_p.P780P	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1413	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATAGCCCCCCGCGACCAGGTG	0.627																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(4234-4236)ccG>ccA		latent transforming growth factor beta binding protein 4							30	34	33					19																	41132932		1967	4134	6101	SO:0001819	synonymous_variant	8425				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	g.chr19:41132932G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4236G>A	19.37:g.41132932G>A						LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Silent_p.P780P|LTBP4_ENST00000396819.3_Silent_p.P1345P|LTBP4_ENST00000204005.9_Silent_p.P1375P	p.P1412P	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		32	4236	+			1413			Pro-rich.		O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37	c.4236G>A																																																																																					0.627	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		4	26	0	0	0	1	0	4	26					A	41132932	G	A	41132932	2	1	487	1	0	0	0	0	0	0	0	1	9076	1074	38	1		1	LTBP4	19	41132932	Silent	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08	38910498	41132932	17996051	61	32521											
RBCK1	10616	broad.mit.edu	37	chr20	390566	390566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacccgagcagtggcgggcGgggatgaacaggtggcaatg	9	5	18	9	3	1	1	1	1	0	0	1	3	1	2	1	6	2	2	1	6	2	0	rs546711324		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr20:390566G>A	ENST00000356286.5	+	2	769	c.64G>A	c.(64-66)Ggg>Agg	p.G22R	RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000353660.3_Intron|RBCK1_ENST00000400245.3_3'UTR|RBCK1_ENST00000475269.1_Missense_Mutation_p.G22R|RBCK1_ENST00000400247.3_Intron	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	22	Interaction with IRF3.|Interaction with TAB2.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				AGTGGCGGGCGGGGATGAACA	0.582													G|||	0	0	0	0	5008	,	,		17196	0		0	False		,,,				2504	0					ENST00000356286.5																			0				kidney(1)|lung(4)	5						c.(64-66)Ggg>Agg		RanBP-type and C3HC4-type zinc finger containing 1							97	98	98					20																	390566		2203	4300	6503	SO:0001583	missense	10616				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	g.chr20:390566G>A	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"RING-type (C3HC4) zinc fingers", "Zinc fingers, RAN-binding domain containing"	15864	protein-coding gene	gene with protein product	"heme-oxidized IRP2 ubiquitin ligase 1"	610924	"chromosome 20 open reading frame 18"	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.64G>A	20.37:g.390566G>A	ENSP00000348632:p.Gly22Arg					RBCK1_ENST00000400245.3_3'UTR|RBCK1_ENST00000400247.3_Intron|RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000475269.1_Missense_Mutation_p.G22R|RBCK1_ENST00000353660.3_Intron	p.G22R	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN			2	769	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	22			Interaction with IRF3.|Interaction with TAB2.		O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	c.64G>A	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875962	0.91664	.	.	ENSG00000125826	ENST00000411647;ENST00000356286;ENST00000475269;ENST00000441733;ENST00000400244;ENST00000400243	T;T;T	0.61510	0.1;1.42;0.15	4.68	4.68	0.58851	.	0.066759	0.64402	D	0.000010	T	0.73377	0.3579	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.91635	0.999;0.786	T	0.74870	-0.3517	10	0.51188	T	0.08	-11.713	15.14	0.72604	0.0:0.0:1.0:0.0	.	12;22	B4E0F5;Q9BYM8	.;HOIL1_HUMAN	R	22;22;22;21;22;22	ENSP00000415080:G22R;ENSP00000348632:G22R;ENSP00000387799:G21R	ENSP00000348632:G22R	G	+	1	0	RBCK1	338566	1.000000	0.71417	0.982000	0.44146	0.957000	0.61999	6.944000	0.75940	2.397000	0.81536	0.563000	0.77884	GGG		0.582	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		11	62	0	0	0	1	0	11	62					A	390566	G	A	390566	3	1	487	1	0	0	0	0	1	0	0	0	13107	1116	39	2	89	2	RBCK1	20	390566	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08		390566	62634954	62	32522											
SNX5	27131	broad.mit.edu	37	chr20	17934737	17934737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctcgaggaccatcaaagtCgggcttcgtaggagcaggtg	9	8	14	10	3	2	0	1	0	1	0	5	3	2	2	1	4	1	3	1	4	2	2			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr20:17934737C>T	ENST00000377768.3	-	5	604	c.292G>A	c.(292-294)Gac>Aac	p.D98N	SNX5_ENST00000377759.4_Missense_Mutation_p.D98N|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	98	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						CCATCAAAGTCGGGCTTCGTA	0.488																																						ENST00000377768.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						c.(292-294)Gac>Aac		sorting nexin 5							122	119	120					20																	17934737		2203	4300	6503	SO:0001583	missense	27131				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	g.chr20:17934737C>T	AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"Sorting nexins"	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.292G>A	20.37:g.17934737C>T	ENSP00000366998:p.Asp98Asn					SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.D98N	p.D98N	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN			5	604	-			98			PX.		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	37	c.292G>A	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571860	0.96553	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	T;T;T;T	0.39997	1.33;1.33;1.05;1.33	5.6	5.6	0.85130	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.63803	0.2542	M	0.70595	2.14	0.80722	D	1	P;D	0.67145	0.705;0.996	B;D	0.64237	0.289;0.923	T	0.60561	-0.7239	10	0.41790	T	0.15	-11.6248	19.9784	0.97317	0.0:1.0:0.0:0.0	.	119;98	B7Z476;Q9Y5X3	.;SNX5_HUMAN	N	98;98;61;63	ENSP00000366998:D98N;ENSP00000366988:D98N;ENSP00000404448:D61N;ENSP00000406731:D63N	ENSP00000366988:D98N	D	-	1	0	SNX5	17882737	1.000000	0.71417	0.999000	0.59377	0.802000	0.45316	7.755000	0.85180	2.800000	0.96347	0.455000	0.32223	GAC		0.488	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			14	58	0	0	0	1	0	14	58					T	17934737	C	T	17934737	3	4	487	1	0	0	0	0	1	0	0	0	14905	884	31	2	962	2	SNX5	20	17934737	Missense_Mutation	SNP	C	TCGA-ZG-A9LB-01A-11D-A41K-08	17544171	17934737	45090783	63	32523											
OSBP2	23762	broad.mit.edu	37	chr22	31283571	31283571	+	Frame_Shift_Del	DEL	C	C	-																															gccttccacagtgcccctggCcggccggccaacccctccaa																								rs376362279		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr22:31283571delC	ENST00000332585.6	+	4	1370	c.1266delC	c.(1264-1266)ggcfs	p.G422fs	OSBP2_ENST00000382310.3_Frame_Shift_Del_p.G422fs|OSBP2_ENST00000446658.2_Frame_Shift_Del_p.G422fs|OSBP2_ENST00000401475.1_Frame_Shift_Del_p.G56fs|OSBP2_ENST00000535268.1_5'UTR|OSBP2_ENST00000437268.2_Frame_Shift_Del_p.G164fs|OSBP2_ENST00000407373.1_Frame_Shift_Del_p.G249fs|OSBP2_ENST00000403222.3_Frame_Shift_Del_p.G257fs	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	422					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGCCCCTGGCCGGCCGGCCA	0.622																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(1264-1266)ggfs		oxysterol binding protein 2							15	20	19					22																	31283571		2027	4171	6198	SO:0001589	frameshift_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31283571delC		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1266delC	22.37:g.31283571delC	ENSP00000332576:p.Gly422fs					OSBP2_ENST00000382310.3_Frame_Shift_Del_p.G422fs|OSBP2_ENST00000403222.3_Frame_Shift_Del_p.G257fs|OSBP2_ENST00000535268.1_5'UTR|OSBP2_ENST00000446658.2_Frame_Shift_Del_p.G422fs|OSBP2_ENST00000401475.1_Frame_Shift_Del_p.G56fs|OSBP2_ENST00000407373.1_Frame_Shift_Del_p.G249fs|OSBP2_ENST00000437268.2_Frame_Shift_Del_p.G164fs	p.G422fs	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			4	1370	+			422					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Frame_Shift_Del	DEL	ENST00000332585.6	37	c.1266delC	CCDS43002.1																																																																																				0.622	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		2	4						2	4	---	---	---	---	-	31283571	C	-	31283571	7	5	487	1	0	1	0	1	0	0	0	0	11274	726	26	0	1280	0	OSBP2	22	31283571	Frame_Shift_Del	DEL	C	TCGA-ZG-A9LB-01A-11D-A41K-08		31283571	20020995	64	32524											
TAF1	6872	broad.mit.edu	37	chrX	70603930	70603930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaatatagtgaggaaaatgGacccttaatgatgcaggttg	15	10	12	4	0	0	3	0	2	0	1	0	5	0	5	1	3	1	2	1	3	6	4			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chrX:70603930G>A	ENST00000373790.4	+	13	2114	c.2063G>A	c.(2062-2064)gGa>gAa	p.G688E	TAF1_ENST00000423759.1_Missense_Mutation_p.G709E|TAF1_ENST00000276072.3_Missense_Mutation_p.G709E|TAF1_ENST00000449580.1_Missense_Mutation_p.G688E	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	688	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			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)				GAGGAAAATGGACCCTTAATG	0.413																																						ENST00000449580.1																			0				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						c.(2062-2064)gGa>gAa		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							146	120	128					X																	70603930		2203	4300	6503	SO:0001583	missense	6872				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	g.chrX:70603930G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2063G>A	X.37:g.70603930G>A	ENSP00000362895:p.Gly688Glu					TAF1_ENST00000423759.1_Missense_Mutation_p.G709E|TAF1_ENST00000373790.4_Missense_Mutation_p.G688E|TAF1_ENST00000276072.3_Missense_Mutation_p.G709E	p.G688E			P21675	TAF1_HUMAN			13	2114	+	Renal(35;0.156)	all_lung(315;0.000321)	688					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.2063G>A	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	17.91	3.504993	0.64410	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	5.88	4.96	0.65561	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.170385	0.50627	D	0.000105	T	0.10252	0.0251	N	0.08118	0	0.37836	D	0.928889	B;B	0.25486	0.07;0.127	B;B	0.35688	0.139;0.208	T	0.24154	-1.0168	10	0.87932	D	0	.	12.7882	0.57518	0.0:0.3745:0.6255:0.0	.	688;709	P21675;P21675-2	TAF1_HUMAN;.	E	688;688;709;709	ENSP00000362895:G688E;ENSP00000389000:G688E;ENSP00000406549:G709E;ENSP00000276072:G709E	ENSP00000276072:G709E	G	+	2	0	TAF1	70520655	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.169000	0.64984	2.474000	0.83562	0.600000	0.82982	GGA		0.413	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		13	27	0	0	0	1	0	13	27					A	70603930	G	A	70603930	3	1	487	1	0	0	0	0	1	0	0	0	15510	1174	41	3	2176	3	TAF1	23	70603930	Missense_Mutation	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08		70603930	84666630	65	32525											
TCEAL2	140597	broad.mit.edu	37	chrX	101381877	101381877	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaatgaagaacagccaccGcacgagggaaagccagaagt	17	2	12	10	2	0	3	0	1	0	2	0	6	0	4	3	1	3	1	3	1	5	0			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chrX:101381877G>A	ENST00000372780.1	+	3	294	c.75G>A	c.(73-75)ccG>ccA	p.P25P	TCEAL2_ENST00000329035.2_Silent_p.P25P	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	25					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AACAGCCACCGCACGAGGGAA	0.428													G|||	1	0.000264901	8e-04	0	3775	,	,		16473	0		0	False		,,,				2504	0					ENST00000372780.1																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						c.(73-75)ccG>ccA		transcription elongation factor A (SII)-like 2							112	103	106					X																	101381877		2203	4300	6503	SO:0001819	synonymous_variant	140597				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101381877G>A	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.75G>A	X.37:g.101381877G>A						TCEAL2_ENST00000329035.2_Silent_p.P25P	p.P25P	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN			3	294	+			25					B2R5C7	Silent	SNP	ENST00000372780.1	37	c.75G>A	CCDS14496.1																																																																																				0.428	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		3	25	0	0	0	1	0	3	25					A	101381877	G	A	101381877	2	1	487	1	0	0	0	0	0	0	0	1	15668	1074	38	1		1	TCEAL2	23	101381877	Silent	SNP	G	TCGA-ZG-A9LB-01A-11D-A41K-08	30777947	101381877	53888683	66	32526											
RUNX3	864	broad.mit.edu	37	chr1	25245770	25245770	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacggtcaccttgatggCtcggtggtaggtcgccactt	5	11	13	12	3	1	1	1	1	0	0	4	1	2	1	3	5	0	2	3	5	1	3			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:25245770C>A	ENST00000308873.6	-	3	513	c.505G>T	c.(505-507)Gcc>Tcc	p.A169S	RUNX3_ENST00000338888.3_Missense_Mutation_p.A183S|RUNX3_ENST00000540420.1_Missense_Mutation_p.A76S|RUNX3_ENST00000399916.1_Missense_Mutation_p.A183S|RUNX3_ENST00000496967.1_5'UTR	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	169	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		ACCTTGATGGCTCGGTGGTAG	0.652																																						ENST00000399916.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(547-549)Gcc>Tcc		runt-related transcription factor 3							84	72	76					1																	25245770		2203	4300	6503	SO:0001583	missense	864				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	g.chr1:25245770C>A	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.505G>T	1.37:g.25245770C>A	ENSP00000308051:p.Ala169Ser					RUNX3_ENST00000338888.3_Missense_Mutation_p.A183S|RUNX3_ENST00000308873.6_Missense_Mutation_p.A169S|RUNX3_ENST00000540420.1_Missense_Mutation_p.A76S|RUNX3_ENST00000496967.1_5'UTR	p.A183S	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN		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)	4	985	-		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)	169					B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	ENST00000308873.6	37	c.547G>T	CCDS257.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094094	0.76870	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000540420;ENST00000428150	D;D;D;D	0.99688	-6.41;-6.41;-6.41;-6.41	5.07	5.07	0.68467	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99760	0.9903	M	0.89715	3.055	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.995	D;D;D	0.87578	0.997;0.998;0.998	D	0.97222	0.9878	10	0.87932	D	0	-32.4837	18.4912	0.90848	0.0:1.0:0.0:0.0	.	169;183;169	E9PH34;B1AJV5;Q13761	.;.;RUNX3_HUMAN	S	183;169;183;76;169	ENSP00000382800:A183S;ENSP00000308051:A169S;ENSP00000343477:A183S;ENSP00000444872:A76S	ENSP00000308051:A169S	A	-	1	0	RUNX3	25118357	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	7.802000	0.85969	2.368000	0.80403	0.655000	0.94253	GCC		0.652	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		8	39	1	0	1.06961e-07	1	1.0919e-07	8	39					A	25245770	C	A	25245770	3	1	488	1	0	0	0	0	1	0	0	0	13749	797	28	5	754	5	RUNX3	1	25245770	Missense_Mutation	SNP	C	TCGA-ZG-A9LM-01A-11D-A41K-08		25245770	224004851	1	32527											
UBXN11	91544	broad.mit.edu	37	chr1	26629355	26629355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttttcgggtcttgctaaggGaggccaaaggtgagctcata	9	11	13	8	1	2	1	1	1	1	0	3	2	2	2	1	4	2	2	1	4	3	5			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:26629355G>A	ENST00000374222.1	-	3	484	c.20C>T	c.(19-21)tCc>tTc	p.S7F	UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000314675.7_Missense_Mutation_p.S7F|UBXN11_ENST00000374217.2_Missense_Mutation_p.S7F|UBXN11_ENST00000436301.2_Intron|UBXN11_ENST00000535108.1_Intron|UBXN11_ENST00000374221.3_Missense_Mutation_p.S7F|UBXN11_ENST00000357089.4_Missense_Mutation_p.S7F			Q5T124	UBX11_HUMAN	UBX domain protein 11	7						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CTTGCTAAGGGAGGCCAAAGG	0.567																																						ENST00000314675.7																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(19-21)tCc>tTc		UBX domain protein 11							70	74	72					1																	26629355		1920	4135	6055	SO:0001583	missense	91544					cytoplasm|cytoskeleton		g.chr1:26629355G>A	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.20C>T	1.37:g.26629355G>A	ENSP00000363339:p.Ser7Phe					UBXN11_ENST00000357089.4_Missense_Mutation_p.S7F|UBXN11_ENST00000436301.2_Intron|UBXN11_ENST00000374221.3_Missense_Mutation_p.S7F|UBXN11_ENST00000374222.1_Missense_Mutation_p.S7F|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000374217.2_Missense_Mutation_p.S7F|UBXN11_ENST00000535108.1_Intron	p.S7F	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			2	99	-			7					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	c.20C>T	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973605	0.74246	.	.	ENSG00000158062	ENST00000314675;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217;ENST00000389235;ENST00000452980;ENST00000442942;ENST00000421827	T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.02	5.02	0.67125	.	0.353469	0.26911	N	0.021874	T	0.67173	0.2865	M	0.72118	2.19	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.997;0.996	T	0.70160	-0.4948	10	0.72032	D	0.01	-25.8182	14.2226	0.65839	0.0:0.0:1.0:0.0	.	7;7;7	Q5T124-2;Q5T124-3;Q5T124	.;.;UBX11_HUMAN	F	7	ENSP00000324721:S7F;ENSP00000349601:S7F;ENSP00000363338:S7F;ENSP00000363339:S7F;ENSP00000363334:S7F;ENSP00000410357:S7F;ENSP00000404956:S7F	ENSP00000324721:S7F	S	-	2	0	UBXN11	26501942	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.353000	0.59411	2.497000	0.84241	0.655000	0.94253	TCC		0.567	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		13	22	0	0	0	1	0	13	22					A	26629355	G	A	26629355	3	1	488	1	0	0	0	0	1	0	0	0	16910	1174	41	3	1598	3	UBXN11	1	26629355	Missense_Mutation	SNP	G	TCGA-ZG-A9LM-01A-11D-A41K-08	1383585	26629355	222621266	2	32528											
METTL13	51603	broad.mit.edu	37	chr1	171753487	171753487	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgacagcagtatgcctGgctgtgcagccagctgcgcc	7	6	15	13	2	0	0	0	0	0	0	0	2	0	1	3	2	7	5	3	2	1	1			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:171753487G>A	ENST00000361735.3	+	2	1027	c.761G>A	c.(760-762)tGg>tAg	p.W254*	METTL13_ENST00000362019.3_Nonsense_Mutation_p.W168*|METTL13_ENST00000458517.1_Nonsense_Mutation_p.W253*|METTL13_ENST00000367737.5_Intron	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	254							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CAGTATGCCTGGCTGTGCAGC	0.667																																						ENST00000361735.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(760-762)tGg>tAg		methyltransferase like 13							27	27	27					1																	171753487		2202	4299	6501	SO:0001587	stop_gained	51603						methyltransferase activity|protein binding	g.chr1:171753487G>A	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.761G>A	1.37:g.171753487G>A	ENSP00000354920:p.Trp254*					METTL13_ENST00000458517.1_Nonsense_Mutation_p.W253*|METTL13_ENST00000362019.3_Nonsense_Mutation_p.W168*|METTL13_ENST00000367737.5_Intron	p.W254*	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN			2	1027	+			254					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Nonsense_Mutation	SNP	ENST00000361735.3	37	c.761G>A	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	G	37	6.488209	0.97607	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000361735;ENST00000367736;ENST00000341850	.	.	.	5.33	5.33	0.75918	.	0.135798	0.50627	D	0.000120	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-21.8011	12.0398	0.53446	0.0:0.0:0.7118:0.2882	.	.	.	.	X	253;168;254;171;168	.	ENSP00000341732:W168X	W	+	2	0	METTL13	170020110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.447000	0.73465	2.465000	0.83290	0.655000	0.94253	TGG		0.667	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		14	23	0	0	0	1	0	14	23					A	171753487	G	A	171753487	4	1	488	1	0	0	0	0	0	1	0	0	9497	1357	47	3	767	3	METTL13	1	171753487	Nonsense_Mutation	SNP	G	TCGA-ZG-A9LM-01A-11D-A41K-08	145124132	171753487	77497134	3	32529											
IL24	11009	broad.mit.edu	37	chr1	207072830	207072830	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttgttccccagaaactgtgGgaagccttctgggctgtgaa	8	11	13	9	0	1	2	0	1	1	1	2	3	2	3	3	2	2	3	3	2	3	3			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:207072830G>A	ENST00000294984.2	+	3	484	c.210G>A	c.(208-210)tgG>tgA	p.W70*	IL24_ENST00000367093.3_Nonsense_Mutation_p.W71*|IL24_ENST00000491169.1_Intron|IL24_ENST00000391929.3_Nonsense_Mutation_p.W71*	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	70					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					AGAAACTGTGGGAAGCCTTCT	0.592																																						ENST00000367093.3																			0				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(211-213)tgG>tgA		interleukin 24							63	68	66					1																	207072830		2203	4300	6503	SO:0001587	stop_gained	11009				apoptosis	extracellular space	cytokine activity	g.chr1:207072830G>A	U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"Interleukins and interleukin receptors"	11346	protein-coding gene	gene with protein product	"melanoma differentiation association protein 7", "suppression of tumorigenicity 16 (melanoma differentiation)", "IL-4-induced secreted protein"	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.210G>A	1.37:g.207072830G>A	ENSP00000294984:p.Trp70*					IL24_ENST00000391929.3_Nonsense_Mutation_p.W71*|IL24_ENST00000491169.1_Intron|IL24_ENST00000294984.2_Nonsense_Mutation_p.W70*	p.W71*	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN			3	487	+	Breast(84;0.201)		70					Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Nonsense_Mutation	SNP	ENST00000294984.2	37	c.213G>A	CCDS1471.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649745	0.87958	.	.	ENSG00000162892	ENST00000391929;ENST00000294984;ENST00000367093	.	.	.	4.26	2.39	0.29439	.	0.314072	0.31760	N	0.007111	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	6.6682	0.23054	0.2173:0.0:0.7827:0.0	.	.	.	.	X	71;70;71	.	ENSP00000294984:W70X	W	+	3	0	IL24	205139453	1.000000	0.71417	0.014000	0.15608	0.221000	0.24807	3.700000	0.54786	0.557000	0.29117	-0.251000	0.11542	TGG		0.592	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2	NM_006850		19	58	0	0	0	1	0	19	58					A	207072830	G	A	207072830	4	1	488	1	0	0	0	0	0	1	0	0	7677	1241	43	3	219	3	IL24	1	207072830	Nonsense_Mutation	SNP	G	TCGA-ZG-A9LM-01A-11D-A41K-08	35319343	207072830	42177791	4	32530											
CENPF	1063	broad.mit.edu	37	chr1	214811277	214811277	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagagaagtctgccacctGgaggcagaactcaagaacat	14	5	11	11	0	2	3	1	0	1	3	2	5	2	4	3	2	3	1	3	2	4	0			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:214811277G>A	ENST00000366955.3	+	11	1683	c.1515G>A	c.(1513-1515)ctG>ctA	p.L505L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			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)		TCTGCCACCTGGAGGCAGAAC	0.373																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				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						c.(1513-1515)ctG>ctA		centromere protein F, 350/400kDa							80	83	82					1																	214811277		2203	4300	6503	SO:0001819	synonymous_variant	1063				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	g.chr1:214811277G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1515G>A	1.37:g.214811277G>A							p.L505L	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	11	1683	+			505					Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.1515G>A	CCDS31023.1																																																																																				0.373	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		20	27	0	0	0	1	0	20	27					A	214811277	G	A	214811277	2	1	488	1	0	0	0	0	0	0	0	1	3231	1335	47	3		3	CENPF	1	214811277	Silent	SNP	G	TCGA-ZG-A9LM-01A-11D-A41K-08	7738447	214811277	34439344	5	32531											
USH2A	7399	broad.mit.edu	37	chr1	215956215	215956215	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagctttgctgagtcctcGcccatagctgttccaggcag	7	10	10	14	1	0	1	0	1	0	0	3	1	2	1	3	1	3	5	3	1	1	3	rs111033379		TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:215956215G>A	ENST00000307340.3	-	53	10836	c.10450C>T	c.(10450-10452)Cga>Tga	p.R3484*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.R3484*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3484	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			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)		CTGAGTCCTCGCCCATAGCTG	0.443										HNSCC(13;0.011)																												ENST00000366943.2																			0				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	GRCh37	CM080610	USH2A	M	rs111033379	c.(10450-10452)Cga>Tga		Usher syndrome 2A (autosomal recessive, mild)							78	70	73					1																	215956215		2203	4300	6503	SO:0001587	stop_gained	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215956215G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10450C>T	1.37:g.215956215G>A	ENSP00000305941:p.Arg3484*	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Nonsense_Mutation_p.R3484*	p.R3484*			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	53	10836	-			3484			Fibronectin type-III 19.		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.10450C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	54	21.760685	0.99943	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.22	3.23	0.37069	.	0.236537	0.20685	U	0.087562	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	8.0845	0.30765	0.086:0.0:0.6762:0.2377	.	.	.	.	X	3484	.	ENSP00000305941:R3484X	R	-	1	2	USH2A	214022838	0.099000	0.21834	1.000000	0.80357	0.838000	0.47535	1.143000	0.31553	1.202000	0.43218	0.655000	0.94253	CGA		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	54	0	0	0	1	0	5	54					A	215956215	G	A	215956215	4	1	488	1	0	0	0	0	0	1	0	0	17033	1095	38	1	5238	1	USH2A	1	215956215	Nonsense_Mutation	SNP	G	TCGA-ZG-A9LM-01A-11D-A41K-08	1144938	215956215	33294406	6	32532											
ITPKB	3707	broad.mit.edu	37	chr1	226923861	226923861	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagctgccaacgccccccGcccacgggggccccacttcg	6	3	12	20	4	0	1	0	0	0	1	1	2	0	1	7	2	3	1	7	2	1	1	rs550313561		TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:226923861G>A	ENST00000272117.3	-	1	1298	c.1299C>T	c.(1297-1299)ggC>ggT	p.G433G	ITPKB_ENST00000366784.1_Silent_p.G433G|ITPKB_ENST00000429204.1_Silent_p.G433G			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	433					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AACGCCCCCCGCCCACGGGGG	0.706																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(1297-1299)ggC>ggT		inositol-trisphosphate 3-kinase B							14	18	17					1																	226923861		2101	4226	6327	SO:0001819	synonymous_variant	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226923861G>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1299C>T	1.37:g.226923861G>A						ITPKB_ENST00000366784.1_Silent_p.G433G|ITPKB_ENST00000272117.3_Silent_p.G433G	p.G433G	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			2	1626	-		Prostate(94;0.0773)	433					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	c.1299C>T	CCDS1555.1																																																																																				0.706	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		14	16	0	0	0	1	0	14	16					A	226923861	G	A	226923861	2	1	488	1	0	0	0	0	0	0	0	1	7918	1074	38	1		1	ITPKB	1	226923861	Silent	SNP	G	TCGA-ZG-A9LM-01A-11D-A41K-08	10967646	226923861	22326760	7	32533											
NUP133	55746	broad.mit.edu	37	chr1	229625797	229625797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcagagagtaatagatgaGacatggattgtctgctgagt	13	12	12	4	0	2	4	1	2	1	3	2	7	2	5	0	1	1	2	0	1	3	4			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:229625797G>A	ENST00000261396.3	-	9	1190	c.1099C>T	c.(1099-1101)Ctc>Ttc	p.L367F	NUP133_ENST00000537506.1_Missense_Mutation_p.L351F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	367					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TAATAGATGAGACATGGATTG	0.378																																						ENST00000261396.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(1099-1101)Ctc>Ttc		nucleoporin 133kDa							59	58	58					1																	229625797		2203	4300	6503	SO:0001583	missense	55746				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	g.chr1:229625797G>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1099C>T	1.37:g.229625797G>A	ENSP00000261396:p.Leu367Phe					NUP133_ENST00000537506.1_Missense_Mutation_p.L351F|NUP133_ENST00000366679.1_Missense_Mutation_p.L367F	p.L367F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			9	1190	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	367					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.1099C>T	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688514	0.88639	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.43294	0.95;0.95;0.95	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.131674	0.53938	D	0.000050	T	0.53626	0.1808	M	0.63428	1.95	0.58432	D	0.999997	P	0.51653	0.947	P	0.53988	0.739	T	0.42241	-0.9463	10	0.10111	T	0.7	-24.765	19.8379	0.96666	0.0:0.0:1.0:0.0	.	367	Q8WUM0	NU133_HUMAN	F	367;367;367;351	ENSP00000261396:L367F;ENSP00000355640:L367F;ENSP00000443496:L351F	ENSP00000261396:L367F	L	-	1	0	NUP133	227692420	1.000000	0.71417	0.561000	0.28357	0.971000	0.66376	4.317000	0.59184	2.765000	0.95021	0.655000	0.94253	CTC		0.378	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		6	49	0	0	0	1	0	6	49					A	229625797	G	A	229625797	3	1	488	1	0	0	0	0	1	0	0	0	10754	942	33	3	2443	3	NUP133	1	229625797	Missense_Mutation	SNP	G	TCGA-ZG-A9LM-01A-11D-A41K-08	2701936	229625797	19624824	8	32534											
C2orf48	348738	broad.mit.edu	37	chr2	10350581	10350581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggagcgaccctgtttcaGaatgaagttatctgggtggg	8	11	14	8	1	2	2	1	1	1	1	2	4	2	3	2	3	1	2	2	3	3	2			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr2:10350581G>A	ENST00000381786.3	+	4	627	c.338G>A	c.(337-339)aGa>aAa	p.R113K		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	113										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		CCCTGTTTCAGAATGAAGTTA	0.577																																						ENST00000381786.3																			0				endometrium(1)|lung(7)	8						c.(337-339)aGa>aAa		chromosome 2 open reading frame 48							52	56	55					2																	10350581		2203	4300	6503	SO:0001583	missense	348738							g.chr2:10350581G>A	AK057831	CCDS1670.1	2p25.1	2006-09-01			ENSG00000163009	ENSG00000163009			26322	protein-coding gene	gene with protein product						12477932	Standard	NM_182626		Approved	FLJ25102	uc021vds.1	Q96LS8	OTTHUMG00000119017	ENST00000381786.3:c.338G>A	2.37:g.10350581G>A	ENSP00000371205:p.Arg113Lys						p.R113K	NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN		Epithelial(75;0.188)	4	627	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		113						Missense_Mutation	SNP	ENST00000381786.3	37	c.338G>A	CCDS1670.1	.	.	.	.	.	.	.	.	.	.	G	4.269	0.048974	0.08243	.	.	ENSG00000163009	ENST00000381786	T	0.42900	0.96	1.5	0.536	0.17138	.	.	.	.	.	T	0.20455	0.0492	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.19451	-1.0305	9	0.87932	D	0	.	4.8163	0.13369	0.0:0.0:0.6388:0.3612	.	113	Q96LS8	CB048_HUMAN	K	113	ENSP00000371205:R113K	ENSP00000371205:R113K	R	+	2	0	C2orf48	10268032	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.176000	0.16782	0.165000	0.19558	0.542000	0.68232	AGA		0.577	C2orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239217.1	NM_182626		9	39	0	0	0	1	0	9	39					A	10350581	G	A	10350581	3	1	488	1	0	0	0	0	1	0	0	0	2170	942	33	3	348	3	C2orf48	2	10350581	Missense_Mutation	SNP	G	TCGA-ZG-A9LM-01A-11D-A41K-08		10350581	232848792	9	32535											
MSGN1	343930	broad.mit.edu	37	chr2	17998086	17998086	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actacaatatgttagctttcCagcccacccaccttcagggc	10	10	6	15	0	1	0	1	0	0	0	2	0	2	0	4	1	3	2	4	1	4	5			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr2:17998086C>T	ENST00000281047.3	+	1	324	c.301C>T	c.(301-303)Cag>Tag	p.Q101*		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	101					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTAGCTTTCCAGCCCACCCA	0.647																																					Melanoma(127;325 1712 14802 40657 49130)	ENST00000281047.3																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11						c.(301-303)Cag>Tag		mesogenin 1							32	39	37					2																	17998086		2030	4183	6213	SO:0001587	stop_gained	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17998086C>T		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"paraxial mesogenin"	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.301C>T	2.37:g.17998086C>T	ENSP00000281047:p.Gln101*						p.Q101*	NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN			1	324	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		101						Nonsense_Mutation	SNP	ENST00000281047.3	37	c.301C>T	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763854	0.31228	.	.	ENSG00000151379	ENST00000281047	.	.	.	5.25	4.35	0.52113	.	0.604415	0.15624	N	0.252760	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-17.5194	14.2854	0.66243	0.0:0.9274:0.0:0.0726	.	.	.	.	X	101	.	ENSP00000281047:Q101X	Q	+	1	0	MSGN1	17861567	0.220000	0.23631	0.991000	0.47740	0.103000	0.19146	1.756000	0.38390	2.732000	0.93576	0.655000	0.94253	CAG		0.647	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		7	30	0	0	0	1	0	7	30					T	17998086	C	T	17998086	4	4	488	1	0	0	0	0	0	1	0	0	9869	595	21	3	303	3	MSGN1	2	17998086	Nonsense_Mutation	SNP	C	TCGA-ZG-A9LM-01A-11D-A41K-08	7647505	17998086	225201287	10	32536											
ITPRIPL1	150771	broad.mit.edu	37	chr2	96993057	96993057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaaatggggaaccctcCatgagacccagaaatttgat	14	9	10	8	0	0	4	0	3	0	3	1	7	1	5	3	2	1	0	3	2	3	2			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr2:96993057C>T	ENST00000439118.2	+	3	939	c.688C>T	c.(688-690)Cat>Tat	p.H230Y	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.H222Y|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.H222Y|ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.H238Y	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	230						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGAACCCTCCATGAGACCCA	0.602																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(712-714)Cat>Tat		inositol 1,4,5-trisphosphate receptor interacting protein-like 1							41	45	43					2																	96993057		2203	4300	6503	SO:0001583	missense	150771					integral to membrane		g.chr2:96993057C>T		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"KIAA1754-like", "inositol 1,4,5-triphosphate receptor interacting protein-like 1"	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.688C>T	2.37:g.96993057C>T	ENSP00000389308:p.His230Tyr					ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.H222Y|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.H222Y|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.H230Y	p.H238Y	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	1123	+			230					F5H1L8|Q8NE61	Missense_Mutation	SNP	ENST00000439118.2	37	c.712C>T	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316068	0.40996	.	.	ENSG00000198885	ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887	T;T;T;T	0.18502	2.22;2.22;2.21;2.22	5.24	5.24	0.73138	.	0.558950	0.16119	N	0.228727	T	0.11580	0.0282	N	0.14661	0.345	0.09310	N	1	B;B	0.29716	0.255;0.165	B;B	0.28784	0.094;0.043	T	0.17899	-1.0354	10	0.62326	D	0.03	-4.32	12.4036	0.55426	0.0:0.7234:0.2766:0.0	.	238;230	Q6GPH6-2;Q6GPH6	.;IPIL1_HUMAN	Y	222;230;238;222	ENSP00000439566:H222Y;ENSP00000389308:H230Y;ENSP00000355121:H238Y;ENSP00000438212:H222Y	ENSP00000355121:H238Y	H	+	1	0	ITPRIPL1	96356784	0.961000	0.32948	0.871000	0.34182	0.986000	0.74619	3.079000	0.50104	2.706000	0.92434	0.655000	0.94253	CAT		0.602	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		13	39	0	0	0	1	0	13	39					T	96993057	C	T	96993057	3	4	488	1	0	0	0	0	1	0	0	0	7924	594	21	3	728	3	ITPRIPL1	2	96993057	Missense_Mutation	SNP	C	TCGA-ZG-A9LM-01A-11D-A41K-08	78994971	96993057	146206316	11	32537											
RNPEPL1	57140	broad.mit.edu	37	chr2	241513550	241513550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgacattgtcttcctgcCaccctccttccccatcgtgg	5	12	7	17	2	1	0	0	0	1	0	5	1	4	0	6	1	2	1	6	1	1	4			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr2:241513550C>T	ENST00000270357.4	+	5	859	c.266C>T	c.(265-267)cCa>cTa	p.P89L		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	89					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		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)		GTCTTCCTGCCACCCTCCTTC	0.627																																						ENST00000270357.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13						c.(265-267)cCa>cTa		arginyl aminopeptidase (aminopeptidase B)-like 1							116	84	95					2																	241513550		2203	4299	6502	SO:0001583	missense	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241513550C>T			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.266C>T	2.37:g.241513550C>T	ENSP00000270357:p.Pro89Leu						p.P89L	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN		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)	5	859	+		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)	89					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37	c.266C>T		.	.	.	.	.	.	.	.	.	.	c	25.5	4.643289	0.87859	.	.	ENSG00000142327	ENST00000270357	T	0.03717	3.83	5.08	5.08	0.68730	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.27697	0.0681	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34304	-0.9834	10	0.87932	D	0	-19.9274	15.939	0.79739	0.0:1.0:0.0:0.0	.	89	Q9HAU8	RNPL1_HUMAN	L	89	ENSP00000270357:P89L	ENSP00000270357:P89L	P	+	2	0	RNPEPL1	241162223	1.000000	0.71417	0.991000	0.47740	0.865000	0.49528	7.138000	0.77305	2.347000	0.79759	0.486000	0.48141	CCA		0.627	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		3	39	0	0	0	1	0	3	39					T	241513550	C	T	241513550	3	4	488	1	0	0	0	0	1	0	0	0	13510	594	21	3	276	3	RNPEPL1	2	241513550	Missense_Mutation	SNP	C	TCGA-ZG-A9LM-01A-11D-A41K-08	144520493	241513550	1685823	12	32538											
ATP2B2	491	broad.mit.edu	37	chr3	10401651	10401651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacagtgctcatggacttgcGcacggagttgaaggtgtaca	10	9	14	8	2	1	1	1	1	0	0	1	4	1	3	0	3	3	4	0	3	2	3			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr3:10401651G>A	ENST00000352432.4	-	12	1885	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	ATP2B2_ENST00000397077.1_Missense_Mutation_p.R561C|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R561C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R606C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R592C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	606					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ATGGACTTGCGCACGGAGTTG	0.577																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1681-1683)Cgc>Tgc		ATPase, Ca++ transporting, plasma membrane 2							105	86	92					3																	10401651		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10401651G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1816C>T	3.37:g.10401651G>A	ENSP00000324172:p.Arg606Cys					ATP2B2_ENST00000383800.4_Missense_Mutation_p.R561C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R606C|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R606C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R592C	p.R561C			Q01814	AT2B2_HUMAN			12	2256	-			606					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.1681C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984389	0.74474	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	4.93	3.96	0.45880	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.90954	0.7156	H	0.99336	4.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.999;1.0	D	0.92652	0.6134	10	0.87932	D	0	-25.3853	10.1956	0.43051	0.0:0.0:0.5371:0.4628	.	541;573;606	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	C	606;561;561;606;592;541;462;606	ENSP00000324172:R606C;ENSP00000373311:R561C;ENSP00000380267:R561C;ENSP00000353414:R606C;ENSP00000344677:R592C;ENSP00000414854:R462C	ENSP00000342954:R606C	R	-	1	0	ATP2B2	10376651	0.864000	0.29904	1.000000	0.80357	0.998000	0.95712	0.990000	0.29642	2.272000	0.75746	0.591000	0.81541	CGC		0.577	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		37	70	0	0	0	1	0	37	70					A	10401651	G	A	10401651	3	1	488	1	0	0	0	0	1	0	0	0	1140	1087	38	1	1959	1	ATP2B2	3	10401651	Missense_Mutation	SNP	G	TCGA-ZG-A9LM-01A-11D-A41K-08		10401651	187620779	13	32539											
GOLGA4	2803	broad.mit.edu	37	chr3	37366393	37366393	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaatgccaaaatgctggaaAtggcacaggctaactcagct	14	9	9	9	0	1	0	1	0	0	0	1	1	1	1	1	3	4	4	1	3	5	2			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr3:37366393A>G	ENST00000361924.2	+	14	3390	c.3016A>G	c.(3016-3018)Atg>Gtg	p.M1006V	GOLGA4_ENST00000356847.4_Missense_Mutation_p.M1028V|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1006	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			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						AATGCTGGAAATGGCACAGGC	0.388																																						ENST00000361924.2																			0				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						c.(3016-3018)Atg>Gtg		golgin A4							74	75	74					3																	37366393		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37366393A>G	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3016A>G	3.37:g.37366393A>G	ENSP00000354486:p.Met1006Val					GOLGA4_ENST00000356847.4_Missense_Mutation_p.M1028V|GOLGA4_ENST00000444882.1_Intron	p.M1006V	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	3390	+			1006			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.3016A>G	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631592	0.46944	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000429018;ENST00000437131	T;T;T	0.28454	1.62;1.61;1.63	5.15	5.15	0.70609	.	0.000000	0.44285	D	0.000480	T	0.51449	0.1675	L	0.59436	1.845	0.51482	D	0.999925	D;D;D;P	0.89917	1.0;0.998;0.998;0.695	D;D;D;B	0.83275	0.996;0.994;0.991;0.369	T	0.49606	-0.8922	10	0.44086	T	0.13	.	15.0015	0.71476	1.0:0.0:0.0:0.0	.	1006;1006;1028;1006	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	V	1006;1028;567;877	ENSP00000354486:M1006V;ENSP00000349305:M1028V;ENSP00000405842:M877V	ENSP00000349305:M1028V	M	+	1	0	GOLGA4	37341397	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.899000	0.69846	1.957000	0.56846	0.454000	0.30748	ATG		0.388	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		22	43	0	0	0	1	0	22	43					G	37366393	A	G	37366393	3	3	488	1	0	0	0	0	1	0	0	0	6555	101	4	4	3140	4	GOLGA4	3	37366393	Missense_Mutation	SNP	A	TCGA-ZG-A9LM-01A-11D-A41K-08	26964742	37366393	160656037	14	32540											
PGM2	55276	broad.mit.edu	37	chr4	37848860	37848860	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taagtggatgggaaacagagCcaaacagctaatagaccagg	17	5	12	7	0	0	2	0	0	0	2	0	4	0	4	2	3	4	1	2	3	5	3			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr4:37848860C>G	ENST00000381967.4	+	10	1326	c.1226C>G	c.(1225-1227)gCc>gGc	p.A409G	PGM2_ENST00000544359.1_Missense_Mutation_p.A270G|PGM2_ENST00000537241.1_Missense_Mutation_p.A249G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	409					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GGAAACAGAGCCAAACAGCTA	0.383																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(1225-1227)gCc>gGc		phosphoglucomutase 2							96	89	91					4																	37848860		2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37848860C>G	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"phosphopentomutase"	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1226C>G	4.37:g.37848860C>G	ENSP00000371393:p.Ala409Gly					PGM2_ENST00000544359.1_Missense_Mutation_p.A270G|PGM2_ENST00000537241.1_Missense_Mutation_p.A249G	p.A409G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			10	1326	+			409					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.1226C>G	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898381	0.72639	.	.	ENSG00000169299	ENST00000381967;ENST00000544359;ENST00000537241	T;T;T	0.43688	0.94;0.94;0.94	5.96	5.96	0.96718	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.090297	0.85682	D	0.000000	T	0.44329	0.1288	L	0.56340	1.77	0.80722	D	1	B;B	0.29301	0.119;0.241	B;B	0.36922	0.223;0.236	T	0.28004	-1.0057	10	0.37606	T	0.19	-20.7464	13.5937	0.61975	0.0:0.9296:0.0:0.0704	.	409;270	Q96G03;B4E0G8	PGM2_HUMAN;.	G	409;270;249	ENSP00000371393:A409G;ENSP00000438025:A270G;ENSP00000437342:A249G	ENSP00000371393:A409G	A	+	2	0	PGM2	37525255	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.970000	0.70431	2.832000	0.97577	0.655000	0.94253	GCC		0.383	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		7	39	0	0	0	1	0	7	39					G	37848860	C	G	37848860	3	3	488	1	0	0	0	0	1	0	0	0	11798	739	26	5	1264	5	PGM2	4	37848860	Missense_Mutation	SNP	C	TCGA-ZG-A9LM-01A-11D-A41K-08		37848860	153305416	15	32541											
EXOC1	55763	broad.mit.edu	37	chr4	56726617	56726617	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggttaaggtggtcaaagtCaagaaatccgataagggaga	16	7	13	5	1	2	2	2	0	0	2	3	4	3	2	1	4	0	1	1	4	5	2			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr4:56726617C>T	ENST00000381295.2	+	3	513	c.165C>T	c.(163-165)gtC>gtT	p.V55V	EXOC1_ENST00000346134.7_Silent_p.V55V|EXOC1_ENST00000349598.6_Silent_p.V55V	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	55					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				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)					TGGTCAAAGTCAAGAAATCCG	0.413																																						ENST00000381295.2																			0				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						c.(163-165)gtC>gtT		exocyst complex component 1							128	126	127					4																	56726617		2203	4300	6503	SO:0001819	synonymous_variant	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56726617C>T	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.165C>T	4.37:g.56726617C>T						EXOC1_ENST00000349598.6_Silent_p.V55V|EXOC1_ENST00000346134.7_Silent_p.V55V	p.V55V	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			3	513	+	Glioma(25;0.08)|all_neural(26;0.101)		55					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Silent	SNP	ENST00000381295.2	37	c.165C>T	CCDS3502.1																																																																																				0.413	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		13	55	0	0	0	1	0	13	55					T	56726617	C	T	56726617	2	4	488	1	0	0	0	0	0	0	0	1	5301	813	29	3		3	EXOC1	4	56726617	Silent	SNP	C	TCGA-ZG-A9LM-01A-11D-A41K-08	18877757	56726617	134427659	16	32542											
ZFR	51663	broad.mit.edu	37	chr5	32444350	32444352	+	In_Frame_Del	DEL	GCC	GCC	-																															gttacctatattgggccgcaGccgccgccgccgccgccccg																										TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr5:32444350_32444352delGCC	ENST00000265069.8	-	2	222_224	c.120_122delGGC	c.(118-123)gcggct>gct	p.40_41AA>A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	40	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTGGgccgcagccgccgccgccg	0.68																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(118-123)gct>gc		zinc finger RNA binding protein				118,3428		11,96,1666						1.3	1			14	258,6868		26,206,3331	no	coding	ZFR	NM_016107.3		37,302,4997	A1A1,A1R,RR		3.6205,3.3277,3.5232				376,10296				SO:0001651	inframe_deletion	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32444350_32444352delGCC	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.120_122delGGC	5.37:g.32444359_32444361delGCC	ENSP00000265069:p.Ala43del						p.AA42del	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	2	222_224	-			42			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	In_Frame_Del	DEL	ENST00000265069.8	37	c.120_122delGGC	CCDS34139.1																																																																																				0.68	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			2	4						2	4	---	---	---	---	-	32444352	GCC	-	32444350	7	5	488	1	0	1	0	1	0	0	0	0	17656	971	34	0	3178	0	ZFR	5	32444350	In_Frame_Del	DEL	GCC	TCGA-ZG-A9LM-01A-11D-A41K-08		32444350	148470910	17	32543											
ZNF318	24149	broad.mit.edu	37	chr6	43323044	43323044	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgtgcctccctgctctcTagtctgtggggatctgagga	5	13	13	10	0	3	2	0	2	3	0	5	4	4	4	2	3	2	1	2	3	1	1			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr6:43323044T>C	ENST00000361428.2	-	4	2105	c.2028A>G	c.(2026-2028)ctA>ctG	p.L676L	ZNF318_ENST00000318149.3_Silent_p.L676L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	676					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCTGCTCTCTAGTCTGTGGG	0.542																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(2026-2028)ctA>ctG		zinc finger protein 318							157	118	131					6																	43323044		2203	4300	6503	SO:0001819	synonymous_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323044T>C	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2028A>G	6.37:g.43323044T>C						ZNF318_ENST00000318149.3_Silent_p.L676L	p.L676L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	2105	-			676					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	c.2028A>G	CCDS4895.2																																																																																				0.542	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		24	45	0	0	0	1	0	24	45					C	43323044	T	C	43323044	2	2	488	1	0	0	0	0	0	0	0	1	17833	1509	53	4		4	ZNF318	6	43323044	Silent	SNP	T	TCGA-ZG-A9LM-01A-11D-A41K-08		43323044	127792023	18	32544											
COL21A1	81578	broad.mit.edu	37	chr6	56035877	56035877	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctaaaagaatatcaaaTcccctttcatcacgagctgc	16	9	4	12	1	3	1	3	0	0	1	4	2	4	1	3	0	3	1	3	0	6	3			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr6:56035877T>C	ENST00000244728.5	-	4	1087	c.690A>G	c.(688-690)ggA>ggG	p.G230G	COL21A1_ENST00000535941.1_Silent_p.G230G|COL21A1_ENST00000370819.1_Silent_p.G230G	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	230	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAATATCAAATCCCCTTTCAT	0.318																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(688-690)ggA>ggG		collagen, type XXI, alpha 1							107	97	100					6																	56035877		1829	4081	5910	SO:0001819	synonymous_variant	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56035877T>C	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.690A>G	6.37:g.56035877T>C						COL21A1_ENST00000370819.1_Silent_p.G230G|COL21A1_ENST00000535941.1_Silent_p.G230G	p.G230G	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		4	1087	-	Lung NSC(77;0.0483)		230			TSP N-terminal.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	c.690A>G	CCDS55025.1																																																																																				0.318	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			13	34	0	0	0	1	0	13	34					C	56035877	T	C	56035877	2	2	488	1	0	0	0	0	0	0	0	1	3680	1422	50	4		4	COL21A1	6	56035877	Silent	SNP	T	TCGA-ZG-A9LM-01A-11D-A41K-08	12712833	56035877	115079190	19	32545											
HTR1E	3354	broad.mit.edu	37	chr6	87725923	87725923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggaacggaaggcagcaCgcatcctggggctgattctg	9	6	15	11	2	1	1	0	1	1	0	2	3	2	3	2	5	2	4	2	5	2	1			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr6:87725923C>T	ENST00000305344.5	+	2	1574	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	291					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.R291C(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)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GAAGGCAGCACGCATCCTGGG	0.517																																						ENST00000305344.4																			1	Substitution - Missense(1)	p.R291C(1)	kidney(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(871-873)Cgc>Tgc		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)						172	160	164					6																	87725923		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725923C>T		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.871C>T	6.37:g.87725923C>T	ENSP00000307766:p.Arg291Cys					HTR1E_ENST00000369584.1_Missense_Mutation_p.R291C	p.R291C	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1574	+		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)	291					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.871C>T	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413221	0.25465	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.40476	1.03;1.03	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000022	T	0.57286	0.2043	M	0.74546	2.27	0.47276	D	0.999375	D	0.89917	1.0	D	0.69479	0.964	T	0.65372	-0.6184	10	0.87932	D	0	.	17.0403	0.86487	0.0:1.0:0.0:0.0	.	291	P28566	5HT1E_HUMAN	C	291	ENSP00000307766:R291C;ENSP00000358597:R291C	ENSP00000307766:R291C	R	+	1	0	HTR1E	87782642	0.989000	0.36119	0.988000	0.46212	0.164000	0.22412	2.763000	0.47605	2.041000	0.60428	0.205000	0.17691	CGC		0.517	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		36	67	0	0	0	1	0	36	67					T	87725923	C	T	87725923	3	4	488	1	0	0	0	0	1	0	0	0	7439	536	19	1	873	1	HTR1E	6	87725923	Missense_Mutation	SNP	C	TCGA-ZG-A9LM-01A-11D-A41K-08	31690046	87725923	83389144	20	32546											
DMTF1	9988	broad.mit.edu	37	chr7	86808992	86808994	+	In_Frame_Del	DEL	GTA	GTA	-																															tatagaagagtgcttcgcatGtatgatgacagaaaccatgt																										TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr7:86808992_86808994delGTA	ENST00000394703.5	+	10	1214_1216	c.651_653delGTA	c.(649-654)atgtat>att	p.217_218MY>I	DMTF1_ENST00000411766.2_In_Frame_Del_p.176_177MY>I|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000413276.2_In_Frame_Del_p.217_218MY>I|DMTF1_ENST00000331242.7_In_Frame_Del_p.217_218MY>I|DMTF1_ENST00000394702.3_In_Frame_Del_p.217_218MY>I|DMTF1_ENST00000432937.2_In_Frame_Del_p.129_130MY>I	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	217	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Interaction with CCND2. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TGCTTCGCATGTATGATGACAGA	0.374																																						ENST00000394703.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(649-654)att>at		cyclin D binding myb-like transcription factor 1																																				SO:0001651	inframe_deletion	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86808992_86808994delGTA	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"cyclin D-binding Myb-like protein"	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.651_653delGTA	7.37:g.86808992_86808994delGTA	ENSP00000378193:p.Met217_Tyr218delinsIle					DMTF1_ENST00000331242.7_In_Frame_Del_p.MY217del|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000413276.2_In_Frame_Del_p.MY217del|DMTF1_ENST00000432937.2_In_Frame_Del_p.MY129del|DMTF1_ENST00000394702.3_In_Frame_Del_p.MY217del|DMTF1_ENST00000411766.2_In_Frame_Del_p.MY176del	p.MY217del	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN			10	1214_1216	+	Esophageal squamous(14;0.0058)		217			Interaction with CCND1, CCND2 and CCND3 (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	In_Frame_Del	DEL	ENST00000394703.5	37	c.651_653delGTA	CCDS5601.1																																																																																				0.374	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		12	101						12	101	---	---	---	---	-	86808994	GTA	-	86808992	7	5	488	1	0	1	0	1	0	0	0	0	4592	1377	48	0	673	0	DMTF1	7	86808992	In_Frame_Del	DEL	GTA	TCGA-ZG-A9LM-01A-11D-A41K-08		86808992	72329671	21	32547											
MET	4233	broad.mit.edu	37	chr7	116435978	116435978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgctggcaccctaaagccGaaatgcgcccatccttttct	10	10	7	14	2	1	0	0	0	1	0	2	1	2	0	4	1	3	2	4	1	4	3	rs587778444		TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr7:116435978G>A	ENST00000318493.6	+	21	4214	c.4027G>A	c.(4027-4029)Gaa>Aaa	p.E1343K	MET_ENST00000539704.1_Missense_Mutation_p.E195K|MET_ENST00000397752.3_Missense_Mutation_p.E1325K			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E1343K(1)		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)			CCCTAAAGCCGAAATGCGCCC	0.433			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		1	Substitution - Missense(1)	p.E1343K(1)	ovary(1)	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						c.(3973-3975)Gaa>Aaa		met proto-oncogene							122	113	116					7																	116435978		1923	4113	6036	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116435978G>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.4027G>A	7.37:g.116435978G>A	ENSP00000317272:p.Glu1343Lys					MET_ENST00000318493.6_Missense_Mutation_p.E1343K|MET_ENST00000539704.1_Missense_Mutation_p.E195K	p.E1325K	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		21	4173	+	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)	1325			Interaction with MUC20.|Interaction with RANBP9.|Protein kinase.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.3973G>A	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022346	0.75275	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	D;D;D	0.83250	-1.7;-1.7;-1.7	5.72	5.72	0.89469	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86715	0.5999	N	0.21194	0.64	0.80722	D	1	P;D	0.89917	0.926;1.0	P;D	0.85130	0.721;0.997	D	0.87793	0.2620	10	0.72032	D	0.01	.	20.244	0.98389	0.0:0.0:1.0:0.0	.	1343;1325	P08581-2;P08581	.;MET_HUMAN	K	1325;1343;195	ENSP00000380860:E1325K;ENSP00000317272:E1343K;ENSP00000445020:E195K	ENSP00000317272:E1343K	E	+	1	0	MET	116223214	1.000000	0.71417	0.979000	0.43373	0.947000	0.59692	7.528000	0.81941	2.865000	0.98341	0.655000	0.94253	GAA		0.433	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			63	59	0	0	0	1	0	63	59					A	116435978	G	A	116435978	3	1	488	1	0	0	0	0	1	0	0	0	9485	1059	37	2	4105	2	MET	7	116435978	Missense_Mutation	SNP	G	TCGA-ZG-A9LM-01A-11D-A41K-08	29626986	116435978	42702685	22	32548											
KCNV1	27012	broad.mit.edu	37	chr8	110984685	110984685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggaagcgacacctgtcccGcacacacaggaagcggagga	13	3	13	12	3	0	0	0	0	0	0	1	5	1	4	2	4	2	1	2	4	3	1			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr8:110984685G>A	ENST00000524391.1	-	3	1825	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	KCNV1_ENST00000297404.1_Missense_Mutation_p.R265W|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	265					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CACCTGTCCCGCACACACAGG	0.532																																						ENST00000524391.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(793-795)Cgg>Tgg		potassium channel, subfamily V, member 1							80	68	72					8																	110984685		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984685G>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.793C>T	8.37:g.110984685G>A	ENSP00000435954:p.Arg265Trp					KCNV1_ENST00000297404.1_Missense_Mutation_p.R265W	p.R265W			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1825	-	all_neural(195;0.219)		265					Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.793C>T	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273335	0.40194	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97772	-4.53;-4.53	5.7	2.48	0.30137	Ion transport (1);	0.126345	0.48767	D	0.000164	D	0.97841	0.9291	M	0.63208	1.945	0.35069	D	0.762328	D	0.76494	0.999	P	0.60473	0.875	D	0.99950	1.1533	10	0.72032	D	0.01	.	14.8744	0.70483	0.0:0.0:0.5211:0.4789	.	265	Q6PIU1	KCNV1_HUMAN	W	265;265;141	ENSP00000435954:R265W;ENSP00000297404:R265W	ENSP00000297404:R265W	R	-	1	2	KCNV1	111053861	0.753000	0.28349	1.000000	0.80357	0.997000	0.91878	0.606000	0.24194	0.706000	0.31912	0.557000	0.71058	CGG		0.532	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		3	43	0	0	0	1	0	3	43					A	110984685	G	A	110984685	3	1	488	1	0	0	0	0	1	0	0	0	8094	1086	38	1	717	1	KCNV1	8	110984685	Missense_Mutation	SNP	G	TCGA-ZG-A9LM-01A-11D-A41K-08		110984685	35379337	23	32549											
PGM5	5239	broad.mit.edu	37	chr9	71094403	71094403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctccattattgctgcccGgaagcagagtgtggaggaaa	10	9	13	9	1	1	1	0	0	1	1	2	4	1	4	2	3	3	3	2	3	3	2			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr9:71094403G>A	ENST00000396396.1	+	8	1458	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	410					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.R410Q(2)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATTGCTGCCCGGAAGCAGAGT	0.532																																						ENST00000396396.1																			2	Substitution - Missense(2)	p.R410Q(2)	large_intestine(1)|pancreas(1)	endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(1228-1230)cGg>cAg		phosphoglucomutase 5							114	116	115					9																	71094403		2203	4300	6503	SO:0001583	missense	5239				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	g.chr9:71094403G>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1229G>A	9.37:g.71094403G>A	ENSP00000379678:p.Arg410Gln						p.R410Q	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			8	1458	+			410					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1229G>A	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470453	0.84533	.	.	ENSG00000154330	ENST00000396396	T	0.41400	1.0	5.49	5.49	0.81192	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.057554	0.64402	D	0.000002	T	0.63462	0.2513	M	0.85099	2.735	0.80722	D	1	D	0.71674	0.998	P	0.54815	0.761	T	0.68044	-0.5513	10	0.52906	T	0.07	.	18.4944	0.90860	0.0:0.0:1.0:0.0	.	410	Q15124	PGM5_HUMAN	Q	410	ENSP00000379678:R410Q	ENSP00000379678:R410Q	R	+	2	0	PGM5	70284223	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.539000	0.73856	2.739000	0.93911	0.563000	0.77884	CGG		0.532	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		3	72	0	0	0	1	0	3	72					A	71094403	G	A	71094403	3	1	488	1	0	0	0	0	1	0	0	0	11801	1116	39	2	1259	2	PGM5	9	71094403	Missense_Mutation	SNP	G	TCGA-ZG-A9LM-01A-11D-A41K-08		71094403	70119028	24	32550											
RIC8A	60626	broad.mit.edu	37	chr11	209474	209474	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaccgtgtcatctggcTgcagagtgtccgaatcctgt	6	11	10	14	2	2	1	1	0	1	1	5	2	5	1	4	1	1	2	4	1	1	0			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr11:209474T>A	ENST00000526104.1	+	3	1544	c.200T>A	c.(199-201)cTg>cAg	p.L67Q	BET1L_ENST00000410108.1_5'Flank|BET1L_ENST00000332865.6_5'Flank|RIC8A_ENST00000527696.1_Missense_Mutation_p.L61Q|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000529614.2_5'Flank|RIC8A_ENST00000325207.5_Missense_Mutation_p.L67Q|BET1L_ENST00000486280.1_5'Flank|BET1L_ENST00000325147.9_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	67					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		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)		GTCATCTGGCTGCAGAGTGTC	0.647																																						ENST00000526104.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13						c.(199-201)cTg>cAg		RIC8 guanine nucleotide exchange factor A							81	78	79					11																	209474		2203	4300	6503	SO:0001583	missense	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:209474T>A	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.200T>A	11.37:g.209474T>A	ENSP00000432008:p.Leu67Gln					RIC8A_ENST00000325207.5_Missense_Mutation_p.L67Q|RIC8A_ENST00000527696.1_Missense_Mutation_p.L61Q	p.L67Q			Q9NPQ8	RIC8A_HUMAN		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)	3	1544	+		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)	67					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	37	c.200T>A		.	.	.	.	.	.	.	.	.	.	T	27.4	4.829479	0.90955	.	.	ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000531209;ENST00000530889;ENST00000527696	T;T;T;T	0.60299	0.38;0.38;0.2;0.38	4.32	4.32	0.51571	Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.78616	0.4311	M	0.88181	2.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83324	-0.0016	10	0.87932	D	0	-18.5089	13.3635	0.60669	0.0:0.0:0.0:1.0	.	61;67;67	Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3	.;RIC8A_HUMAN;.	Q	67;67;67;71;61	ENSP00000432008:L67Q;ENSP00000325941:L67Q;ENSP00000433968:L71Q;ENSP00000434833:L61Q	ENSP00000325941:L67Q	L	+	2	0	RIC8A	199474	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.525000	0.81892	1.906000	0.55180	0.459000	0.35465	CTG		0.647	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		27	40	0	0	0	1	0	27	40					A	209474	T	A	209474	3	1	488	1	0	0	0	0	1	0	0	0	13355	1580	55	5	210	5	RIC8A	11	209474	Missense_Mutation	SNP	T	TCGA-ZG-A9LM-01A-11D-A41K-08		209474	134797042	25	32551											
FIBIN	387758	broad.mit.edu	37	chr11	27016184	27016184	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggactctgcaccactacttCgtgcccgatggggactatga	8	9	12	12	2	1	1	0	1	1	0	2	4	1	3	2	3	3	1	2	3	2	3			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr11:27016184C>T	ENST00000318627.2	+	1	557	c.111C>T	c.(109-111)ttC>ttT	p.F37F		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	37						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						ACCACTACTTCGTGCCCGATG	0.582																																						ENST00000318627.2																			0				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						c.(109-111)ttC>ttT		fin bud initiation factor homolog (zebrafish)							75	72	73					11																	27016184		2203	4299	6502	SO:0001819	synonymous_variant	387758					extracellular region|Golgi apparatus		g.chr11:27016184C>T	BC026873	CCDS7861.1	11p14.2	2008-12-03				ENSG00000176971			33747	protein-coding gene	gene with protein product						17196583	Standard	NM_203371		Approved	MGC24932	uc001mrd.3	Q8TAL6		ENST00000318627.2:c.111C>T	11.37:g.27016184C>T							p.F37F	NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN			1	557	+			37						Silent	SNP	ENST00000318627.2	37	c.111C>T	CCDS7861.1																																																																																				0.582	FIBIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387945.1	NM_203371		12	24	0	0	0	1	0	12	24					T	27016184	C	T	27016184	2	4	488	1	0	0	0	0	0	0	0	1	5885	883	31	2		2	FIBIN	11	27016184	Silent	SNP	C	TCGA-ZG-A9LM-01A-11D-A41K-08	26806710	27016184	107990332	26	32552											
MFRP	83552	broad.mit.edu	37	chr11	119213427	119213427	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcaggagagctcactgggCccacaggggtctgcaggcac	8	5	16	12	0	2	1	1	0	1	1	2	2	2	1	1	6	2	4	1	6	0	0			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr11:119213427C>T	ENST00000530681.1	-	11	1410	c.1266G>A	c.(1264-1266)ggG>ggA	p.G422G	MFRP_ENST00000360167.4_Missense_Mutation_p.G347D|MFRP_ENST00000529147.1_5'Flank|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Silent_p.G422G|C1QTNF5_ENST00000528368.1_5'Flank|MFRP_ENST00000449574.2_Silent_p.G422G|C1QTNF5_ENST00000525657.1_5'Flank	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	422	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GCTCACTGGGCCCACAGGGGT	0.627																																						ENST00000360167.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18						c.(1039-1041)gGc>gAc		membrane frizzled-related protein							93	85	88					11																	119213427		2199	4295	6494	SO:0001819	synonymous_variant	83552							g.chr11:119213427C>T	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"membrane-type frizzled-related protein", "complement C1q tumor necrosis factor-related protein 5 precursor variant 1"	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1266G>A	11.37:g.119213427C>T						C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Silent_p.G422G|MFRP_ENST00000555262.1_Silent_p.G422G|MFRP_ENST00000530681.1_Silent_p.G422G	p.G347D						BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	9	1191	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)						B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.1040G>A	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	C	8.393	0.840108	0.16891	.	.	ENSG00000235718	ENST00000360167	T	0.24350	1.86	5.51	-5.18	0.02840	.	0.976484	0.08405	N	0.950790	T	0.06917	0.0176	.	.	.	0.34339	D	0.688588	B	0.09022	0.002	B	0.04013	0.001	T	0.45963	-0.9225	9	0.02654	T	1	-2.8236	1.0115	0.01498	0.2216:0.2241:0.1359:0.4185	.	347	B4DHN8	.	D	347	ENSP00000353291:G347D	ENSP00000353291:G347D	G	-	2	0	MFRP	118718637	0.101000	0.21875	0.094000	0.20943	0.920000	0.55202	-0.738000	0.04871	-1.030000	0.03312	-0.254000	0.11334	GGC		0.627	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		16	39	0	0	0	1	0	16	39					T	119213427	C	T	119213427	2	4	488	1	0	0	0	0	0	0	0	1	9526	726	26	3		3	MFRP	11	119213427	Silent	SNP	C	TCGA-ZG-A9LM-01A-11D-A41K-08	92197243	119213427	15793089	27	32553											
EMP1	2012	broad.mit.edu	37	chr12	13367625	13367625	+	Nonstop_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggtcctgagaaagaaataAggccggacgagttcatgggg	12	7	15	7	2	1	2	1	1	0	2	2	5	2	3	2	5	0	1	2	5	3	2			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr12:13367625A>T	ENST00000256951.5	+	5	673	c.474A>T	c.(472-474)taA>taT	p.*158Y	EMP1_ENST00000544053.1_3'UTR|EMP1_ENST00000542289.1_Intron|EMP1_ENST00000396301.3_3'UTR|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000431267.2_Nonstop_Mutation_p.*91Y	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	0					cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GAAAGAAATAAGGCCGGACGA	0.542																																						ENST00000256951.5																			0											c.(472-474)taA>taT		epithelial membrane protein 1							98	90	93					12																	13367625		2203	4300	6503	SO:0001578	stop_lost	2012				cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction		g.chr12:13367625A>T	U43916	CCDS8660.1	12p12.3	2008-08-04				ENSG00000134531			3333	protein-coding gene	gene with protein product		602333				8996089, 9126480	Standard	NM_001423		Approved	TMP, CL-20	uc001rbr.3	P54849		ENST00000256951.5:c.474A>T	12.37:g.13367625A>T	ENSP00000256951:p.*158Tyrext*17					EMP1_ENST00000537612.1_Intron|EMP1_ENST00000431267.2_Nonstop_Mutation_p.*91Y|EMP1_ENST00000396301.3_3'UTR|EMP1_ENST00000544053.1_3'UTR|EMP1_ENST00000542289.1_Intron	p.*158Y	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	5	673	+		Prostate(47;0.194)	0					B2R5N1|B4DRR1|O00681|Q13481|Q13834	Nonstop_Mutation	SNP	ENST00000256951.5	37	c.474A>T	CCDS8660.1	.	.	.	.	.	.	.	.	.	.	A	7.827	0.718947	0.15372	.	.	ENSG00000134531	ENST00000256951;ENST00000431267	.	.	.	5.44	1.76	0.24704	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3514	0.49589	0.904:0.0:0.096:0.0	.	.	.	.	Y	158;91	.	.	X	+	3	2	EMP1	13258892	0.994000	0.37717	0.652000	0.29579	0.177000	0.22998	4.438000	0.59961	0.115000	0.18071	-0.959000	0.02639	TAA		0.542	EMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401019.1	NM_001423		3	72	0	0	0	1	0	3	72					T	13367625	A	T	13367625	4	4	488	1	0	0	0	0	0	0	0	0	5101	79	3	5	488	5	EMP1	12	13367625	Nonstop_Mutation	SNP	A	TCGA-ZG-A9LM-01A-11D-A41K-08		13367625	120484270	28	32554											
SILV	6490	broad.mit.edu	37	chr12	56355130	56355130	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtattgttgacccagataAcctgcccatctggcaatacc	10	11	8	12	0	1	2	0	1	1	1	1	2	1	2	4	2	3	3	4	2	4	5			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr12:56355130A>T	ENST00000548747.1	-	3	967	c.305T>A	c.(304-306)gTt>gAt	p.V102D	PMEL_ENST00000449260.2_Missense_Mutation_p.V102D|PMEL_ENST00000548493.1_Missense_Mutation_p.V102D|PMEL_ENST00000552882.1_Missense_Mutation_p.V102D|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000536427.1_Missense_Mutation_p.V102D|PMEL_ENST00000550447.1_Missense_Mutation_p.V65D|PMEL_ENST00000360714.4_Missense_Mutation_p.V102D			P40967	PMEL_HUMAN	premelanosome protein	102					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GACCCAGATAACCTGCCCATC	0.483																																						ENST00000548747.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(304-306)gTt>gAt		premelanosome protein							193	169	177					12																	56355130		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56355130A>T	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"silver (mouse homolog) like", "silver homolog (mouse)"	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.305T>A	12.37:g.56355130A>T	ENSP00000448828:p.Val102Asp					PMEL_ENST00000550447.1_Missense_Mutation_p.V65D|PMEL_ENST00000548493.1_Missense_Mutation_p.V102D|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000449260.2_Missense_Mutation_p.V102D|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000360714.4_Missense_Mutation_p.V102D|PMEL_ENST00000552882.1_Missense_Mutation_p.V102D|PMEL_ENST00000536427.1_Missense_Mutation_p.V102D|PMEL_ENST00000548689.1_5'UTR	p.V102D			P40967	PMEL_HUMAN			3	967	-			102					B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.305T>A	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	a	17.95	3.512994	0.64522	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000550447;ENST00000548803;ENST00000547137;ENST00000549418;ENST00000549233	T;T;T;T;T;T;T;T	0.39592	2.56;2.59;2.59;2.59;2.56;2.27;1.07;2.05	5.15	5.15	0.70609	.	0.149237	0.31427	N	0.007671	T	0.60366	0.2263	M	0.70275	2.135	0.80722	D	1	D;D	0.67145	0.996;0.994	P;P	0.61201	0.885;0.771	T	0.65508	-0.6151	10	0.87932	D	0	-10.8167	14.2725	0.66159	1.0:0.0:0.0:0.0	.	102;102	P40967-2;P40967	.;PMEL_HUMAN	D	102;102;102;102;102;102;65;102;102;102;105	ENSP00000402758:V102D;ENSP00000449690:V102D;ENSP00000448828:V102D;ENSP00000447374:V102D;ENSP00000353940:V102D;ENSP00000438695:V102D;ENSP00000447732:V102D;ENSP00000448849:V102D	ENSP00000353940:V102D	V	-	2	0	PMEL	54641397	1.000000	0.71417	0.987000	0.45799	0.844000	0.47949	7.766000	0.85320	2.070000	0.61991	0.523000	0.50628	GTT		0.483	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		27	36	0	0	0	1	0	27	36					T	56355130	A	T	56355130	3	4	488	1	0	0	0	0	1	0	0	0	14322	43	2	5	1716	5	SILV	12	56355130	Missense_Mutation	SNP	A	TCGA-ZG-A9LM-01A-11D-A41K-08	42987505	56355130	77496765	29	32555											
CEP290	80184	broad.mit.edu	37	chr12	88512275	88512275	+	Frame_Shift_Del	DEL	T	T	-																															tatacctgaagttgcacttcTttttcctctttcttgagcca																										TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr12:88512275delT	ENST00000552810.1	-	17	2039	c.1696delA	c.(1696-1698)agafs	p.R566fs	CEP290_ENST00000309041.7_Frame_Shift_Del_p.R568fs|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	566					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTTGCACTTCTTTTTCCTCTT	0.299																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(1696-1698)gafs		centrosomal protein 290kDa							61	55	57					12																	88512275		1794	4049	5843	SO:0001589	frameshift_variant	80184				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	g.chr12:88512275delT	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1696delA	12.37:g.88512275delT	ENSP00000448012:p.Arg566fs					CEP290_ENST00000309041.7_Frame_Shift_Del_p.R568fs|CEP290_ENST00000397838.3_5'UTR	p.R566fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			17	2039	-			566					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Del	DEL	ENST00000552810.1	37	c.1696delA	CCDS55858.1																																																																																				0.299	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		2	4						2	4	---	---	---	---	-	88512275	T	-	88512275	7	5	488	1	0	1	0	1	0	0	0	0	3253	1617	56	0	5895	0	CEP290	12	88512275	Frame_Shift_Del	DEL	T	TCGA-ZG-A9LM-01A-11D-A41K-08	32157145	88512275	45339620	30	32556											
EIF2S1	1965	broad.mit.edu	37	chr14	67850087	67850087	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgaggcagatggagaggcTtgaaagagaaaatgccgaag	15	5	16	5	2	0	4	0	1	0	3	0	8	0	4	1	3	2	2	1	3	4	1			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr14:67850087T>C	ENST00000256383.4	+	8	1339	c.878T>C	c.(877-879)cTt>cCt	p.L293P	EIF2S1_ENST00000466499.2_Missense_Mutation_p.L293P	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	293					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		ATGGAGAGGCTTGAAAGAGAA	0.418																																						ENST00000256383.4																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(877-879)cTt>cCt		eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa							89	79	83					14																	67850087		2203	4300	6503	SO:0001583	missense	1965					cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity	g.chr14:67850087T>C	J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.878T>C	14.37:g.67850087T>C	ENSP00000256383:p.Leu293Pro					EIF2S1_ENST00000466499.2_Missense_Mutation_p.L293P	p.L293P	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN		all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)	8	1339	+			293						Missense_Mutation	SNP	ENST00000256383.4	37	c.878T>C	CCDS9781.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418211	0.83449	.	.	ENSG00000134001	ENST00000256383;ENST00000466499	.	.	.	6.17	6.17	0.99709	Translation initiation factor 2, alpha subunit, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.77061	0.4075	M	0.80332	2.49	0.80722	D	1	P	0.43519	0.809	P	0.53988	0.739	T	0.77983	-0.2382	9	0.51188	T	0.08	-10.805	16.8222	0.85835	0.0:0.0:0.0:1.0	.	293	P05198	IF2A_HUMAN	P	293	.	ENSP00000256383:L293P	L	+	2	0	EIF2S1	66919840	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	CTT		0.418	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074342.3	NM_004094		11	21	0	0	0	1	0	11	21					C	67850087	T	C	67850087	3	2	488	1	0	0	0	0	1	0	0	0	5009	1609	56	4	904	4	EIF2S1	14	67850087	Missense_Mutation	SNP	T	TCGA-ZG-A9LM-01A-11D-A41K-08		67850087	39499453	31	32557											
C14orf43	91748	broad.mit.edu	37	chr14	74196649	74196649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgctttggtttccgcaCggaaggctccccctccaact	5	10	9	17	3	0	0	0	0	0	0	3	1	3	1	5	3	2	5	5	3	2	2	rs141337993	byFrequency	TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr14:74196649C>T	ENST00000286523.5	-	4	2571	c.1789G>A	c.(1789-1791)Gtg>Atg	p.V597M	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.V597M	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	597					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GGTTTCCGCACGGAAGGCTCC	0.587													C|||	2	0.000399361	8e-04	0.0014	5008	,	,		15503	0		0	False		,,,				2504	0					ENST00000286523.5																			0											c.(1789-1791)Gtg>Atg		ELM2 and Myb/SANT-like domain containing 1		C	MET/VAL,MET/VAL	0,4406		0,0,2203	43	42	42		1789,1789	3.5	0.7	14	dbSNP_134	42	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	C14orf43	NM_001043318.1,NM_194278.3	21,21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	597/1046,597/1046	74196649	2,13004	2203	4300	6503	SO:0001583	missense	91748							g.chr14:74196649C>T	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1789G>A	14.37:g.74196649C>T	ENSP00000286523:p.Val597Met					ELMSAN1_ENST00000394071.2_Missense_Mutation_p.V597M	p.V597M	NM_194278.3	NP_919254.2					4	2571	-								Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	c.1789G>A	CCDS9819.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	11.55	1.673529	0.29693	0.0	2.33E-4	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	5.4	3.51	0.40186	.	0.472937	0.19471	N	0.113452	T	0.06735	0.0172	N	0.08118	0	0.21652	N	0.999606	B;B	0.20164	0.042;0.042	B;B	0.11329	0.004;0.006	T	0.31971	-0.9924	10	0.41790	T	0.15	-7.2208	7.4783	0.27390	0.2961:0.6267:0.0:0.0771	.	597;597	A0PJD3;Q6PJG2	.;CN043_HUMAN	M	597	ENSP00000377634:V597M;ENSP00000286523:V597M;ENSP00000407767:V597M;ENSP00000402380:V597M	ENSP00000286523:V597M	V	-	1	0	C14orf43	73266402	0.619000	0.27059	0.679000	0.29978	0.972000	0.66771	1.617000	0.36943	0.581000	0.29539	0.579000	0.79373	GTG		0.587	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		9	28	0	0	0	1	0	9	28					T	74196649	C	T	74196649	3	4	488	1	0	0	0	0	1	0	0	0	1774	536	19	1	1384	1	C14orf43	14	74196649	Missense_Mutation	SNP	C	TCGA-ZG-A9LM-01A-11D-A41K-08	6346562	74196649	33152891	32	32558											
PSMC1	5700	broad.mit.edu	37	chr14	90735788	90735788	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaattcagcgaacaatgtTggaactgctgaaccagttgg	14	9	11	7	1	1	2	1	1	0	1	1	4	1	3	1	2	5	3	1	2	5	3			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr14:90735788T>C	ENST00000261303.8	+	9	1032	c.929T>C	c.(928-930)tTg>tCg	p.L310S	PSMC1_ENST00000543772.2_Missense_Mutation_p.L237S	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	310					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		CGAACAATGTTGGAACTGCTG	0.413																																						ENST00000261303.8																			0				endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6						c.(928-930)tTg>tCg		proteasome (prosome, macropain) 26S subunit, ATPase, 1							119	117	118					14																	90735788		2203	4297	6500	SO:0001583	missense	5700				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	g.chr14:90735788T>C	L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.929T>C	14.37:g.90735788T>C	ENSP00000261303:p.Leu310Ser					PSMC1_ENST00000543772.2_Missense_Mutation_p.L237S	p.L310S	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	9	1032	+		all_cancers(154;0.142)	310					B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Missense_Mutation	SNP	ENST00000261303.8	37	c.929T>C	CCDS32139.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814543	0.70912	.	.	ENSG00000100764	ENST00000261303;ENST00000543772	D;D	0.92099	-2.97;-2.97	4.92	4.92	0.64577	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.92938	0.7753	L	0.28014	0.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94144	0.7399	10	0.87932	D	0	-9.8897	14.8736	0.70478	0.0:0.0:0.0:1.0	.	310	P62191	PRS4_HUMAN	S	310;237	ENSP00000261303:L310S;ENSP00000445147:L237S	ENSP00000261303:L310S	L	+	2	0	PSMC1	89805541	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	7.958000	0.87877	1.977000	0.57605	0.460000	0.39030	TTG		0.413	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411253.1	NM_002802		21	53	0	0	0	1	0	21	53					C	90735788	T	C	90735788	3	2	488	1	0	0	0	0	1	0	0	0	12685	1821	63	4	963	4	PSMC1	14	90735788	Missense_Mutation	SNP	T	TCGA-ZG-A9LM-01A-11D-A41K-08	16539139	90735788	16613752	33	32559											
OR4N4	283694	broad.mit.edu	37	chr15	22382875	22382875	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctctgcactgttcaactGtcatgaaccctagagcctgc	8	10	9	14	0	3	2	2	1	1	1	3	2	3	2	3	1	5	2	3	1	3	2			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr15:22382875G>C	ENST00000328795.4	+	1	494	c.403G>C	c.(403-405)Gtc>Ctc	p.V135L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGTTCAACTGTCATGAACCC	0.527																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(403-405)Gtc>Ctc		olfactory receptor, family 4, subfamily N, member 4							197	170	179					15																	22382875		2190	4263	6453	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382875G>C	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.403G>C	15.37:g.22382875G>C	ENSP00000332500:p.Val135Leu					RP11-69H14.6_ENST00000558896.1_RNA	p.V135L	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	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)	1	494	+		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)	135					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.403G>C	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	2.961	-0.214525	0.06101	.	.	ENSG00000183706	ENST00000328795	T	0.01092	5.35	3.24	-1.56	0.08532	GPCR, rhodopsin-like superfamily (1);	0.153868	0.30419	N	0.009679	T	0.00637	0.0021	N	0.05050	-0.12	0.09310	N	0.999996	B	0.10296	0.003	B	0.14578	0.011	T	0.47497	-0.9113	10	0.66056	D	0.02	-12.9107	5.5393	0.17030	0.2249:0.4976:0.2775:0.0	.	135	Q8N0Y3	OR4N4_HUMAN	L	135	ENSP00000332500:V135L	ENSP00000332500:V135L	V	+	1	0	OR4N4	19884239	0.003000	0.15002	0.779000	0.31741	0.106000	0.19336	-0.100000	0.10990	-0.145000	0.11294	0.195000	0.17529	GTC		0.527	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			51	36	0	0	0	1	0	51	36					C	22382875	G	C	22382875	3	2	488	1	0	0	0	0	1	0	0	0	11078	1377	48	5	405	5	OR4N4	15	22382875	Missense_Mutation	SNP	G	TCGA-ZG-A9LM-01A-11D-A41K-08		22382875	80148517	34	32560											
ITGAM	3684	broad.mit.edu	37	chr16	31289353	31289353	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgggggcacctcgatatCagcacatcggcctggtagcg	7	9	13	12	3	2	0	1	0	1	0	4	1	2	0	2	4	2	3	2	4	2	3			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr16:31289353C>T	ENST00000287497.8	+	12	1354	c.1279C>T	c.(1279-1281)Cag>Tag	p.Q427*	ITGAM_ENST00000544665.3_Nonsense_Mutation_p.Q427*			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	427					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ACCTCGATATCAGCACATCGG	0.572																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1279-1281)Cag>Tag		integrin, alpha M (complement component 3 receptor 3 subunit)							51	52	52					16																	31289353		2072	4194	6266	SO:0001587	stop_gained	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31289353C>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1279C>T	16.37:g.31289353C>T	ENSP00000287497:p.Gln427*					ITGAM_ENST00000287497.8_Nonsense_Mutation_p.Q427*	p.Q427*	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			12	1350	+			427					Q4VAK0|Q4VAK1|Q4VAK2	Nonsense_Mutation	SNP	ENST00000287497.8	37	c.1279C>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324578	0.95708	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	12.9575	0.58438	0.0:1.0:0.0:0.0	.	.	.	.	X	427	.	ENSP00000287497:Q427X	Q	+	1	0	ITGAM	31196854	1.000000	0.71417	0.997000	0.53966	0.419000	0.31324	3.829000	0.55760	2.490000	0.84030	0.561000	0.74099	CAG		0.572	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		4	10	0	0	0	1	0	4	10					T	31289353	C	T	31289353	4	4	488	1	0	0	0	0	0	1	0	0	7887	827	29	3	1325	3	ITGAM	16	31289353	Nonsense_Mutation	SNP	C	TCGA-ZG-A9LM-01A-11D-A41K-08		31289353	59065400	35	32561											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	7	0	0	0	1	0	9	7					A	7577121	G	A	7577121	3	1	488	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-ZG-A9LM-01A-11D-A41K-08		7577121	73618089	36	32562											
MAP2K7	5609	broad.mit.edu	37	chr19	7968910	7968910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaccgggaggcccggcggagGatcgacctcaacctggatat	10	5	14	12	4	1	0	1	0	0	0	2	5	1	4	4	6	2	0	4	6	3	1			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr19:7968910G>T	ENST00000397979.3	+	1	135	c.81G>T	c.(79-81)agG>agT	p.R27S	MAP2K7_ENST00000397983.3_Missense_Mutation_p.R27S|AC010336.1_ENST00000539278.1_5'Flank|MAP2K7_ENST00000545011.1_Missense_Mutation_p.R27S|MAP2K7_ENST00000397981.3_Missense_Mutation_p.R27S|RN7SL115P_ENST00000392196.5_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	27					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CCCGGCGGAGGATCGACCTCA	0.746																																						ENST00000545011.1																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(79-81)agG>agT		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						12	18	16					19																	7968910		1875	4078	5953	SO:0001583	missense	5609				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	g.chr19:7968910G>T	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.81G>T	19.37:g.7968910G>T	ENSP00000381066:p.Arg27Ser					MAP2K7_ENST00000397983.3_Missense_Mutation_p.R27S|MAP2K7_ENST00000397981.3_Missense_Mutation_p.R27S|MAP2K7_ENST00000397979.3_Missense_Mutation_p.R27S	p.R27S			O14733	MP2K7_HUMAN			1	146	+			27					B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	c.81G>T	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	g	15.24	2.774862	0.49786	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.72051	-0.33;-0.4;-0.62;-0.44	3.77	3.77	0.43336	.	0.000000	0.85682	U	0.000000	T	0.64713	0.2623	L	0.36672	1.1	0.38362	D	0.944626	B;B;D	0.58268	0.03;0.092;0.982	B;B;P	0.53006	0.015;0.039;0.715	T	0.62863	-0.6764	10	0.22109	T	0.4	-12.2447	7.073	0.25189	0.1223:0.0:0.8776:0.0	.	27;27;27	O14733-4;O14733;B4DV95	.;MP2K7_HUMAN;.	S	27	ENSP00000381068:R27S;ENSP00000381070:R27S;ENSP00000443946:R27S;ENSP00000381066:R27S	ENSP00000381066:R27S	R	+	3	2	MAP2K7	7874910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.687000	0.25407	1.962000	0.57031	0.457000	0.33378	AGG		0.746	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			3	2	1	0	2.56e-06	1	2.56e-06	3	2					T	7968910	G	T	7968910	3	4	488	1	0	0	0	0	1	0	0	0	9242	1165	41	5	83	5	MAP2K7	19	7968910	Missense_Mutation	SNP	G	TCGA-ZG-A9LM-01A-11D-A41K-08		7968910	51160073	37	32563											
CYP4F3	4051	broad.mit.edu	37	chr19	15758123	15758123	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattttcaatgagagtgtgAacatcatgcatgtgagttat	13	14	10	4	0	2	4	2	3	0	2	2	5	2	4	0	0	2	2	0	0	3	3			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr19:15758123A>G	ENST00000221307.8	+	5	561	c.514A>G	c.(514-516)Aac>Gac	p.N172D	CYP4F3_ENST00000591058.1_Missense_Mutation_p.N172D|CYP4F3_ENST00000586182.2_Missense_Mutation_p.N172D|CYP4F3_ENST00000585846.1_Missense_Mutation_p.N172D	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	172					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGAGAGTGTGAACATCATGCA	0.507																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(514-516)Aac>Gac		cytochrome P450, family 4, subfamily F, polypeptide 3							118	123	121					19																	15758123		2203	4300	6503	SO:0001583	missense	4051				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	g.chr19:15758123A>G	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.514A>G	19.37:g.15758123A>G	ENSP00000221307:p.Asn172Asp					CYP4F3_ENST00000586182.1_Missense_Mutation_p.N172D|CYP4F3_ENST00000591058.1_Missense_Mutation_p.N172D|CYP4F3_ENST00000585846.1_Missense_Mutation_p.N172D	p.N172D	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			5	562	+			172					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.514A>G	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	12.04	1.817853	0.32145	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.67345	-0.26	3.4	-2.11	0.07187	.	0.234790	0.33290	U	0.005080	T	0.40094	0.1103	N	0.13003	0.285	0.23966	N	0.996322	B;B	0.12013	0.003;0.005	B;B	0.20577	0.03;0.03	T	0.14337	-1.0476	10	0.29301	T	0.29	.	5.4507	0.16563	0.2557:0.2014:0.5429:0.0	.	172;172	B7Z8Z3;Q08477	.;CP4F3_HUMAN	D	99;172	ENSP00000221307:N172D	ENSP00000221307:N172D	N	+	1	0	CYP4F3	15619123	0.487000	0.25988	0.002000	0.10522	0.883000	0.51084	1.360000	0.34125	-0.369000	0.08028	0.358000	0.22013	AAC		0.507	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		37	85	0	0	0	1	0	37	85					G	15758123	A	G	15758123	3	3	488	1	0	0	0	0	1	0	0	0	4190	246	9	4	528	4	CYP4F3	19	15758123	Missense_Mutation	SNP	A	TCGA-ZG-A9LM-01A-11D-A41K-08	7789213	15758123	43370860	38	32564											
CCDC157	550631	broad.mit.edu	37	chr22	30762129	30762129	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagttccctgaccgcatggCctgtgacctcgacatggtgg	7	9	13	12	2	0	2	0	2	0	0	2	4	1	2	4	3	0	2	4	3	1	1			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr22:30762129C>G	ENST00000405659.1	+	3	849	c.140C>G	c.(139-141)gCc>gGc	p.A47G	CCDC157_ENST00000399824.2_Missense_Mutation_p.A47G|CCDC157_ENST00000338306.3_Missense_Mutation_p.A47G			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	47										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GACCGCATGGCCTGTGACCTC	0.652																																						ENST00000405659.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						c.(139-141)gCc>gGc		coiled-coil domain containing 157							147	131	137					22																	30762129		2203	4300	6503	SO:0001583	missense	550631							g.chr22:30762129C>G	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.140C>G	22.37:g.30762129C>G	ENSP00000385357:p.Ala47Gly					CCDC157_ENST00000399824.2_Missense_Mutation_p.A47G|CCDC157_ENST00000338306.3_Missense_Mutation_p.A47G	p.A47G			Q569K6	CC157_HUMAN			3	849	+			47					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.140C>G	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	C	32	5.116789	0.94385	.	.	ENSG00000187860	ENST00000399824;ENST00000405659;ENST00000338306;ENST00000445005;ENST00000430839	T;T;T;T;T	0.49432	0.78;1.59;1.59;1.21;1.2	5.25	5.25	0.73442	.	.	.	.	.	T	0.50633	0.1627	L	0.54323	1.7	0.80722	D	1	D	0.55605	0.972	P	0.45639	0.488	T	0.56074	-0.8039	9	0.62326	D	0.03	-15.2204	17.3819	0.87407	0.0:1.0:0.0:0.0	.	47	Q569K6	CC157_HUMAN	G	47	ENSP00000382720:A47G;ENSP00000385357:A47G;ENSP00000343087:A47G;ENSP00000387491:A47G;ENSP00000401837:A47G	ENSP00000343087:A47G	A	+	2	0	CCDC157	29092129	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	7.189000	0.77747	2.613000	0.88420	0.455000	0.32223	GCC		0.652	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		34	72	0	0	0	1	0	34	72					G	30762129	C	G	30762129	3	3	488	1	0	0	0	0	1	0	0	0	2789	739	26	5	142	5	CCDC157	22	30762129	Missense_Mutation	SNP	C	TCGA-ZG-A9LM-01A-11D-A41K-08		30762129	20542437	39	32565											
NOX1	27035	broad.mit.edu	37	chrX	100104284	100104284	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaatattgctgtcccaTccggtgaggaagagacggta	11	9	11	10	2	1	2	1	1	0	1	3	4	3	3	2	3	1	2	2	3	4	3			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chrX:100104284T>C	ENST00000372966.3	-	11	1633	c.1428A>G	c.(1426-1428)ggA>ggG	p.G476G	NOX1_ENST00000217885.5_Intron|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Silent_p.G439G	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	476	Interaction with NOXO1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TGCTGTCCCATCCGGTGAGGA	0.423																																						ENST00000372966.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(1426-1428)ggA>ggG		NADPH oxidase 1							99	67	78					X																	100104284		2203	4300	6503	SO:0001819	synonymous_variant	27035				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	g.chrX:100104284T>C	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)", "NADPH oxidase homolog-1", "NADPH oxidase 1 variant NOH-1L"	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1428A>G	X.37:g.100104284T>C						NOX1_ENST00000217885.5_Intron|NOX1_ENST00000372960.4_Silent_p.G439G|NOX1_ENST00000372964.1_Intron	p.G476G	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN			11	1633	-			476			Interaction with NOXO1.		A8K836|O95691|Q2PP02	Silent	SNP	ENST00000372966.3	37	c.1428A>G	CCDS14474.1																																																																																				0.423	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		17	15	0	0	0	1	0	17	15					C	100104284	T	C	100104284	2	2	488	1	0	0	0	0	0	0	0	1	10556	1422	50	4		4	NOX1	23	100104284	Silent	SNP	T	TCGA-ZG-A9LM-01A-11D-A41K-08		100104284	55166276	40	32566											
ZFY	7544	broad.mit.edu	37	chrY	2844776	2844778	+	In_Frame_Del	DEL	GCA	GCA	-																															gagaggaggatgctgctgttGcagcagcagcagctgctgtg																										TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chrY:2844776_2844778delGCA	ENST00000155093.3	+	6	1315_1317	c.994_996delGCA	c.(994-996)gcadel	p.A337del	ZFY-AS1_ENST00000417305.1_RNA|ZFY_ENST00000431102.1_In_Frame_Del_p.A146del|ZFY_ENST00000449237.1_Intron|ZFY_ENST00000383052.1_In_Frame_Del_p.A337del	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						TGCTGCTGTTGCAGCAGCAGCAG	0.399																																						ENST00000155093.3																			0				biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						c.(994-996)del		zinc finger protein, Y-linked																																				SO:0001651	inframe_deletion	7544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrY:2844776_2844778delGCA	L10393	CCDS14774.1, CCDS48200.1, CCDS48201.1	Yp11.3	2013-01-08			ENSG00000067646	ENSG00000067646		"Zinc fingers, C2H2-type"	12870	protein-coding gene	gene with protein product		490000				2497060	Standard	NM_001145275		Approved	ZNF911	uc004fqj.3	P08048	OTTHUMG00000036159	ENST00000155093.3:c.994_996delGCA	Y.37:g.2844785_2844787delGCA	ENSP00000155093:p.Ala337del					ZFY_ENST00000431102.1_In_Frame_Del_p.A146del|ZFY_ENST00000449237.1_Intron|ZFY_ENST00000383052.1_In_Frame_Del_p.A337del|ZFY-AS1_ENST00000417305.1_RNA	p.A337del	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN			6	1315_1317	+			337					B4DVF7|Q14021|Q15558|Q1RME9|Q24JR0|Q96TF3	In_Frame_Del	DEL	ENST00000155093.3	37	c.994_996delGCA	CCDS14774.1																																																																																				0.399	ZFY-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088063.1	NM_003411		2	4						2	4	---	---	---	---	-	2844778	GCA	-	2844776	7	5	488	1	0	1	0	1	0	0	0	0	17659	1319	46	0	1012	0	ZFY	24	2844776	In_Frame_Del	DEL	GCA	TCGA-ZG-A9LM-01A-11D-A41K-08		2844776	56528790	41	32567											
DVL1	1855	broad.mit.edu	37	chr1	1277187	1277187	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccattggtccgggcggcTgtgggggcagcaggttggga	4	8	20	9	2	0	0	0	0	0	0	1	1	1	1	2	7	2	4	2	7	0	2			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr1:1277187T>C	ENST00000378888.5	-	5	751		c.e5-2		DVL1_ENST00000378891.5_Splice_Site			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1						axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCCGGGCGGCTGTGGGGGCAG	0.687																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.e5-2		dishevelled segment polarity protein 1							13	13	13					1																	1277187		2187	4281	6468	SO:0001630	splice_region_variant	1855				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	g.chr1:1277187T>C	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.467-2A>G	1.37:g.1277187T>C						DVL1_ENST00000378891.5_Splice_Site				O14640	DVL1_HUMAN		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)	5	751	-	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)						Q5TA33|Q5TA35	Splice_Site	SNP	ENST00000378888.5	37			.	.	.	.	.	.	.	.	.	.	T	12.94	2.089926	0.36855	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100	.	.	.	4.02	2.78	0.32641	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1781	0.42950	0.1491:0.0:0.0:0.8509	.	.	.	.	.	-1	.	.	.	-	.	.	DVL1	1267050	1.000000	0.71417	0.476000	0.27291	0.224000	0.24922	4.138000	0.58017	1.822000	0.53115	0.172000	0.16884	.		0.687	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421	Intron	4	2	0	0	0	1	0	4	2					C	1277187	T	C	1277187	5	2	489	1	0	0	0	0	0	0	1	0	4835	1594	55	4	1591	4	DVL1	1	1277187	Splice_Site	SNP	T	TCGA-ZG-A9LN-01A-11D-A41K-08		1277187	247973434	1	32568											
PGM1	5236	broad.mit.edu	37	chr1	64104431	64104431	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgggaatttgatggacgcGagcaaactgtccctttgtgg	8	13	13	7	2	0	1	0	1	0	0	1	4	1	3	1	3	2	1	1	3	2	3			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr1:64104431G>A	ENST00000371084.3	+	7	1317	c.1104G>A	c.(1102-1104)gcG>gcA	p.A368A	PGM1_ENST00000540265.1_Silent_p.A171A|PGM1_ENST00000371083.4_Silent_p.A386A	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	368					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGATGGACGCGAGCAAACTGT	0.468																																						ENST00000371083.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1156-1158)gcG>gcA		phosphoglucomutase 1							167	159	162					1																	64104431		2203	4300	6503	SO:0001819	synonymous_variant	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64104431G>A	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1104G>A	1.37:g.64104431G>A						PGM1_ENST00000371084.3_Silent_p.A368A|PGM1_ENST00000540265.1_Silent_p.A171A	p.A386A	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN			7	1526	+			368					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Silent	SNP	ENST00000371084.3	37	c.1158G>A	CCDS625.1																																																																																				0.468	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633		10	96	0	0	0	1	0	10	96					A	64104431	G	A	64104431	2	1	489	1	0	0	0	0	0	0	0	1	11797	1045	37	2		2	PGM1	1	64104431	Silent	SNP	G	TCGA-ZG-A9LN-01A-11D-A41K-08	62827244	64104431	185146190	2	32569											
NBPF10	100132406	broad.mit.edu	37	chr1	145325997	145325997	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagggcctgaagtcttgcaAgactcactggatagatgtta	13	10	11	7	0	2	3	1	1	1	2	2	4	2	4	1	2	1	2	1	2	5	3	rs199988926	byFrequency	TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr1:145325997A>G	ENST00000342960.5	+	30	3905	c.3870A>G	c.(3868-3870)caA>caG	p.Q1290Q	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	633						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAGTCTTGCAAGACTCACTGG	0.468													.|||	70	0.0139776	0.0083	0.0245	5008	,	,		19189	0.0089		0.0239	False		,,,				2504	0.0092					ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3868-3870)caA>caG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145325997A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3870A>G	1.37:g.145325997A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.Q1290Q	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	30	3905	+	all_hematologic(923;0.032)		1290					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.3870A>G	CCDS53355.1																																																																																				0.468	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	85	0	0	0	1	0	4	85					G	145325997	A	G	145325997	2	3	489	1	0	0	0	0	0	0	0	1	10193	69	3	4		4	NBPF10	1	145325997	Silent	SNP	A	TCGA-ZG-A9LN-01A-11D-A41K-08	81221566	145325997	103924624	3	32570											
RPTN	126638	broad.mit.edu	37	chr1	152128186	152128186	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtctgtctgtctgaccAtagtgggaactctggccttg	5	14	11	11	0	4	1	0	1	4	0	4	2	4	2	3	2	1	0	3	2	2	3			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1387-1389)taT>taC		repetin							788	697	725					1																	152128186		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128186A>G	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1389T>C	1.37:g.152128186A>G							p.Y463Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1453	-			463			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1389T>C	CCDS41397.1																																																																																				0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		5	898	0	0	0	1	0	5	898					G	152128186	A	G	152128186	2	3	489	1	0	0	0	0	0	0	0	1	13664	224	8	4		4	RPTN	1	152128186	Silent	SNP	A	TCGA-ZG-A9LN-01A-11D-A41K-08	6802189	152128186	97122435	4	32571											
ILF2	3608	broad.mit.edu	37	chr1	153635689	153635689	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaacccaaagcatgctgtAcctgtatgcaacgtttaggg	12	10	9	10	1	0	0	0	0	0	0	0	0	0	0	2	1	6	6	2	1	7	5			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr1:153635689A>T	ENST00000361891.4	-	11	932		c.e11+1		ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2						immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCATGCTGTACCTGTATGCA	0.448																																						ENST00000361891.4																			0				cervix(1)|kidney(1)|lung(4)|skin(1)	7						c.e11+1		interleukin enhancer binding factor 2							206	200	202					1																	153635689		2203	4300	6503	SO:0001630	splice_region_variant	3608				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	g.chr1:153635689A>T	U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"interleukin enhancer binding factor 2, 45kD", "interleukin enhancer binding factor 2, 45kDa"			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.806+1T>A	1.37:g.153635689A>T						ILF2_ENST00000480213.1_5'UTR		NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		11	932	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)							A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Splice_Site	SNP	ENST00000361891.4	37		CCDS1050.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.810520	0.70797	.	.	ENSG00000143621	ENST00000361891	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2593	0.49074	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ILF2	151902313	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.983000	0.88140	2.157000	0.67596	0.533000	0.62120	.		0.448	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	NM_004515	Intron	31	189	0	0	0	1	0	31	189					T	153635689	A	T	153635689	5	4	489	1	0	0	0	0	0	0	1	0	7711	405	14	5	380	5	ILF2	1	153635689	Splice_Site	SNP	A	TCGA-ZG-A9LN-01A-11D-A41K-08	1507503	153635689	95614932	5	32572											
PTPRC	5788	broad.mit.edu	37	chr1	198704261	198704261	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaaaatgtagaacaaGtgtgcagaatactggccgtc	13	13	9	6	1	0	2	0	0	0	2	1	2	0	2	1	1	3	2	1	1	7	5			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr1:198704261G>A	ENST00000367376.2	+	23	2448	c.2277G>A	c.(2275-2277)aaG>aaA	p.K759K	PTPRC_ENST00000594404.1_Silent_p.K598K|PTPRC_ENST00000442510.2_Silent_p.K761K|PTPRC_ENST00000348564.6_Silent_p.K600K|PTPRC_ENST00000352140.3_Silent_p.K711K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	759	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						tGTAGAACAAGTGTGCAGAAT	0.318																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(2275-2277)aaG>aaA		protein tyrosine phosphatase, receptor type, C							59	57	57					1																	198704261		2201	4298	6499	SO:0001819	synonymous_variant	5788				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	g.chr1:198704261G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2277G>A	1.37:g.198704261G>A						PTPRC_ENST00000352140.3_Silent_p.K711K|PTPRC_ENST00000442510.2_Silent_p.K761K|PTPRC_ENST00000594404.1_Silent_p.K598K|PTPRC_ENST00000348564.6_Silent_p.K600K	p.K759K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			23	2448	+			759			Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.2277G>A																																																																																					0.318	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				6	35	0	0	0	1	0	6	35					A	198704261	G	A	198704261	2	1	489	1	0	0	0	0	0	0	0	1	12797	1020	36	3		3	PTPRC	1	198704261	Silent	SNP	G	TCGA-ZG-A9LN-01A-11D-A41K-08	45068572	198704261	50546360	6	32573											
EFEMP1	2202	broad.mit.edu	37	chr2	56104957	56104957	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgagcctggtgtattcacGcatctttggtggcaatatgg	9	13	12	7	1	2	1	1	1	1	0	2	1	2	1	1	4	1	3	1	4	4	4	rs139930646		TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr2:56104957G>A	ENST00000394555.2	-	6	1119	c.684C>T	c.(682-684)tgC>tgT	p.C228C	EFEMP1_ENST00000394554.1_Silent_p.C228C|EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000355426.3_Silent_p.C228C	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	228	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTGTATTCACGCATCTTTGGT	0.423																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(682-684)tgC>tgT		EGF containing fibulin-like extracellular matrix protein 1		G	,	1,4405	2.1+/-5.4	0,1,2202	202	188	193		684,684	-8.9	0.5	2	dbSNP_134	193	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EFEMP1	NM_001039348.2,NM_001039349.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	228/494,228/494	56104957	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56104957G>A	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.684C>T	2.37:g.56104957G>A						EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000355426.3_Silent_p.C228C|EFEMP1_ENST00000394554.1_Silent_p.C228C	p.C228C	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		6	1119	-			228			EGF-like 3; calcium-binding (Potential).		A8K3I4|B4DW75|D6W5D2|Q541U7	Silent	SNP	ENST00000394555.2	37	c.684C>T	CCDS1857.1																																																																																				0.423	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			23	92	0	0	0	1	0	23	92					A	56104957	G	A	56104957	2	1	489	1	0	0	0	0	0	0	0	1	4941	1079	38	1		1	EFEMP1	2	56104957	Silent	SNP	G	TCGA-ZG-A9LN-01A-11D-A41K-08		56104957	187094416	7	32574											
RAPGEF4	11069	broad.mit.edu	37	chr2	173891986	173891986	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttattaagatagcagccCagtaagtatatttagcttgg	14	14	8	5	0	0	1	0	0	0	1	0	1	0	1	1	1	3	4	1	1	8	10			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr2:173891986C>G	ENST00000397081.3	+	25	2700	c.2557C>G	c.(2557-2559)Cac>Gac	p.H853D	RAPGEF4_ENST00000409036.1_Splice_Site_p.H853D|RAPGEF4_ENST00000535187.1_Splice_Site_p.H633D|RAPGEF4_ENST00000539331.1_Splice_Site_p.H700D|RAPGEF4_ENST00000538974.1_Splice_Site_p.H682D|RAPGEF4_ENST00000397087.3_Splice_Site_p.H709D|RAPGEF4_ENST00000540783.1_Splice_Site_p.H700D|RAPGEF4_ENST00000264111.6_Splice_Site_p.H852D	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	853	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GATAGCAGCCCAGTAAGTATA	0.338																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.e25+1		Rap guanine nucleotide exchange factor (GEF) 4							35	35	35					2																	173891986		1799	4069	5868	SO:0001630	splice_region_variant	11069				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	g.chr2:173891986C>G	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2558+1C>G	2.37:g.173891986C>G						RAPGEF4_ENST00000540783.1_Splice_Site_p.H700_splice|RAPGEF4_ENST00000397087.3_Splice_Site_p.H709_splice|RAPGEF4_ENST00000539331.1_Splice_Site_p.H700_splice|RAPGEF4_ENST00000409036.1_Splice_Site_p.H853_splice|RAPGEF4_ENST00000397081.3_Splice_Site_p.H853_splice|RAPGEF4_ENST00000535187.1_Splice_Site_p.H633_splice|RAPGEF4_ENST00000538974.1_Splice_Site_p.H682_splice	p.H852_splice			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		25	2741	+			853			Ras-GEF.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Splice_Site	SNP	ENST00000397081.3	37	c.2555_splice	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872440	0.72180	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187;ENST00000397085	T;T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.65	5.65	0.86999	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.045298	0.85682	D	0.000000	T	0.56232	0.1971	M	0.83012	2.62	0.80722	D	1	P;P	0.48764	0.889;0.915	P;P	0.55161	0.66;0.77	T	0.60900	-0.7171	10	0.72032	D	0.01	.	19.7321	0.96186	0.0:1.0:0.0:0.0	.	709;853	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	D	852;853;853;709;682;700;700;633;84	ENSP00000264111:H852D;ENSP00000380271:H853D;ENSP00000387104:H853D;ENSP00000380276:H709D;ENSP00000440135:H682D;ENSP00000440250:H700D;ENSP00000437384:H700D;ENSP00000438011:H633D;ENSP00000380274:H84D	ENSP00000264111:H852D	H	+	1	0	RAPGEF4	173600232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.717000	0.68446	2.668000	0.90789	0.655000	0.94253	CAC		0.338	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023	Missense_Mutation	10	45	0	0	0	1	0	10	45					G	173891986	C	G	173891986	5	3	489	1	0	0	0	0	0	0	1	0	13046	608	21	5	2671	5	RAPGEF4	2	173891986	Splice_Site	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08	117787029	173891986	69307387	8	32575											
CHN1	1123	broad.mit.edu	37	chr2	175673684	175673684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atatgtaatgagtggaattgGcaaatccctgaagtacagtt	14	12	10	5	0	0	2	0	2	0	0	1	3	1	3	1	2	1	4	1	2	6	5			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr2:175673684G>A	ENST00000409900.3	-	11	1364	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S	CHN1_ENST00000409156.3_Missense_Mutation_p.P325S|CHN1_ENST00000409597.1_Missense_Mutation_p.P167S|CHN1_ENST00000295497.7_Missense_Mutation_p.P226S|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	351	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.P351T(1)|p.P226T(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			AGTGGAATTGGCAAATCCCTG	0.368			T	TAF15	extraskeletal myxoid chondrosarcoma																																	ENST00000409900.3				Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		2	Substitution - Missense(2)	p.P351T(1)|p.P226T(1)	lung(2)	NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1051-1053)Cca>Tca		chimerin 1							257	251	253					2																	175673684		1890	4114	6004	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175673684G>A		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"Rho GTPase activating proteins", "SH2 domain containing"	1943	protein-coding gene	gene with protein product	"Chimerin 1 (GTPase-activating protein, rho, 2)", "chimaerin 1"	118423	"Duane retraction syndrome 2", "chimerin (chimaerin) 1"	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.1051C>T	2.37:g.175673684G>A	ENSP00000386741:p.Pro351Ser					CHN1_ENST00000409597.1_Missense_Mutation_p.P167S|CHN1_ENST00000409156.3_Missense_Mutation_p.P325S|CHN1_ENST00000295497.7_Missense_Mutation_p.P226S|CHN1_ENST00000488080.1_5'UTR	p.P351S	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		11	1364	-			351			Rho-GAP.		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.1051C>T	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814742	0.90790	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156;ENST00000409089;ENST00000444394;ENST00000413882;ENST00000443238	T;T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26	4.97	4.97	0.65823	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.44393	0.1291	M	0.77406	2.37	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.75020	0.985;0.945;0.958	T	0.42498	-0.9448	10	0.56958	D	0.05	.	17.565	0.87917	0.0:0.0:1.0:0.0	.	325;351;226	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	S	351;226;167;325;143;126;169;177	ENSP00000386741:P351S;ENSP00000295497:P226S;ENSP00000386469:P167S;ENSP00000386470:P325S;ENSP00000386322:P143S;ENSP00000411911:P126S;ENSP00000410496:P169S;ENSP00000409798:P177S	ENSP00000295497:P226S	P	-	1	0	CHN1	175381930	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.813000	0.99286	2.458000	0.83093	0.455000	0.32223	CCA		0.368	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		4	113	0	0	0	1	0	4	113					A	175673684	G	A	175673684	3	1	489	1	0	0	0	0	1	0	0	0	3362	1203	42	3	340	3	CHN1	2	175673684	Missense_Mutation	SNP	G	TCGA-ZG-A9LN-01A-11D-A41K-08	1781698	175673684	67525689	9	32576											
ATG9A	79065	broad.mit.edu	37	chr2	220087403	220087403	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggactggatagacgtaaaGagggcattttcagggagcag	14	7	15	5	1	1	2	1	0	0	2	1	5	1	5	0	4	1	3	0	4	4	4			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr2:220087403G>C	ENST00000409618.1	-	11	2251	c.1812C>G	c.(1810-1812)ctC>ctG	p.L604L	ATG9A_ENST00000361242.4_Silent_p.L604L|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000396761.2_Silent_p.L604L|ATG9A_ENST00000409422.1_Silent_p.L543L			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	604					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		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)		TAGACGTAAAGAGGGCATTTT	0.567																																						ENST00000409618.1																			0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.(1810-1812)ctC>ctG		autophagy related 9A							171	179	176					2																	220087403		2051	4200	6251	SO:0001819	synonymous_variant	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220087403G>C	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)"	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1812C>G	2.37:g.220087403G>C						ATG9A_ENST00000409422.1_Silent_p.L543L|ATG9A_ENST00000361242.4_Silent_p.L604L|ATG9A_ENST00000396761.2_Silent_p.L604L	p.L604L			Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	11	2251	-		Renal(207;0.0474)	604					Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Silent	SNP	ENST00000409618.1	37	c.1812C>G	CCDS42820.1																																																																																				0.567	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		19	113	0	0	0	1	0	19	113					C	220087403	G	C	220087403	2	2	489	1	0	0	0	0	0	0	0	1	1102	929	33	5		5	ATG9A	2	220087403	Silent	SNP	G	TCGA-ZG-A9LN-01A-11D-A41K-08	44413719	220087403	23111970	10	32577											
ULK4	54986	broad.mit.edu	37	chr3	41877429	41877429	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaatttgctgttcctgaagTtttccctaattaattcagtt	9	20	5	7	0	1	1	1	1	0	0	3	1	3	1	2	0	1	4	2	0	4	9			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr3:41877429T>C	ENST00000301831.4	-	18	2153	c.1691A>G	c.(1690-1692)aAc>aGc	p.N564S		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	564				AIVLLTELIRENFRNSKLKQCLLPTLGE -> TTSSIGIGI LNCLVQHSTPVPRQCLVYV (in Ref. 3; AAH14794). {ECO:0000305}.	cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GTTCCTGAAGTTTTCCCTAAT	0.358																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(1690-1692)aAc>aGc		unc-51 like kinase 4							127	124	125					3																	41877429		1821	4075	5896	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41877429T>C	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1691A>G	3.37:g.41877429T>C	ENSP00000301831:p.Asn564Ser						p.N564S	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	18	2153	-			564	AIVLLTELIRENFRNSKLKQCLLPTLGE -> TTSSIGIGI LNCLVQHSTPVPRQCLVYV (in Ref. 3; AAH14794).				A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.1691A>G	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.109220	0.77096	.	.	ENSG00000168038	ENST00000301831	T	0.55234	0.53	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	U	0.000000	T	0.62368	0.2422	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.983;0.999	T	0.60286	-0.7293	10	0.35671	T	0.21	.	14.0999	0.65049	0.0:0.0:0.0:1.0	.	564;564	B4E2M4;Q96C45	.;ULK4_HUMAN	S	564	ENSP00000301831:N564S	ENSP00000301831:N564S	N	-	2	0	ULK4	41852433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.679000	0.68160	2.204000	0.70986	0.528000	0.53228	AAC		0.358	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		18	115	0	0	0	1	0	18	115					C	41877429	T	C	41877429	3	2	489	1	0	0	0	0	1	0	0	0	16975	1725	60	4	2216	4	ULK4	3	41877429	Missense_Mutation	SNP	T	TCGA-ZG-A9LN-01A-11D-A41K-08		41877429	156145001	11	32578											
SPCS1	28972	broad.mit.edu	37	chr3	52741717	52741717	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagctgacacttcctccAtggcccatctatcgccggca	7	8	8	18	2	1	1	0	1	1	0	4	1	3	1	5	2	1	2	5	2	1	2			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr3:52741717A>G	ENST00000602728.1	+	4	367	c.198A>G	c.(196-198)ccA>ccG	p.P66P	GLT8D1_ENST00000491606.1_5'Flank|GLT8D1_ENST00000266014.5_5'Flank|SPCS1_ENST00000423431.1_Silent_p.P44P|GLT8D1_ENST00000478968.2_5'Flank|GLT8D1_ENST00000407584.3_5'Flank|SPCS1_ENST00000233025.7_Silent_p.P133P			Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	66					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		CACTTCCTCCATGGCCCATCT	0.413																																						ENST00000233025.7																			0				kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6						c.(397-399)ccA>ccG		signal peptidase complex subunit 1 homolog (S. cerevisiae)							99	102	101					3																	52741717		2203	4300	6503	SO:0001819	synonymous_variant	28972				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity	g.chr3:52741717A>G	AF092138	CCDS33769.2	3p21.31	2005-01-05			ENSG00000114902	ENSG00000114902			23401	protein-coding gene	gene with protein product		610358				8632014	Standard	NM_014041		Approved	SPC12, HSPC033, YJR010C-A, SPC1	uc011bei.2	Q9Y6A9	OTTHUMG00000154930	ENST00000602728.1:c.198A>G	3.37:g.52741717A>G						SPCS1_ENST00000423431.1_Silent_p.P44P|SPCS1_ENST00000602728.1_Silent_p.P66P	p.P133P	NM_014041.3	NP_054760.3	Q9Y6A9	SPCS1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)	4	809	+			133					B3KNF8|Q9BVW1	Silent	SNP	ENST00000602728.1	37	c.399A>G																																																																																					0.413	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467759.1	NM_014041		22	119	0	0	0	1	0	22	119					G	52741717	A	G	52741717	2	3	489	1	0	0	0	0	0	0	0	1	15022	204	8	4		4	SPCS1	3	52741717	Silent	SNP	A	TCGA-ZG-A9LN-01A-11D-A41K-08	10864288	52741717	145280713	12	32579											
GPR128	84873	broad.mit.edu	37	chr3	100362211	100362211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatttctcttcagaaaatgCggtggggccttcaaatgttc	11	13	9	8	1	3	1	2	0	1	1	5	1	3	1	1	3	1	1	1	3	4	4			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr3:100362211C>T	ENST00000273352.3	+	7	1068	c.800C>T	c.(799-801)gCg>gTg	p.A267V	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Intron	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	267					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TCAGAAAATGCGGTGGGGCCT	0.403																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(799-801)gCg>gTg		G protein-coupled receptor 128							151	154	153					3																	100362211		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100362211C>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.800C>T	3.37:g.100362211C>T	ENSP00000273352:p.Ala267Val					GPR128_ENST00000475887.1_Intron	p.A267V	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			7	1068	+			267					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.800C>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	9.010	0.982339	0.18889	.	.	ENSG00000144820	ENST00000273352	T	0.39229	1.09	3.93	-0.181	0.13291	.	1.886950	0.02509	N	0.091316	T	0.17152	0.0412	N	0.08118	0	0.09310	N	1	B	0.30211	0.273	B	0.14578	0.011	T	0.06180	-1.0841	10	0.11182	T	0.66	.	1.0452	0.01568	0.1829:0.4275:0.1782:0.2115	.	267	Q96K78	GP128_HUMAN	V	267	ENSP00000273352:A267V	ENSP00000273352:A267V	A	+	2	0	GPR128	101844901	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.359000	0.07632	-0.154000	0.11118	-0.143000	0.13931	GCG		0.403	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			4	137	0	0	0	1	0	4	137					T	100362211	C	T	100362211	3	4	489	1	0	0	0	0	1	0	0	0	6641	768	27	1	826	1	GPR128	3	100362211	Missense_Mutation	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08	47620494	100362211	97660219	13	32580											
MYH15	22989	broad.mit.edu	37	chr3	108117615	108117615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagaagagagttgcgccGctcagccacagccacctgct	10	6	11	14	2	1	3	1	1	0	2	1	4	1	3	4	0	4	3	4	0	2	1			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr3:108117615G>A	ENST00000273353.3	-	36	5118	c.5062C>T	c.(5062-5064)Cgg>Tgg	p.R1688W		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1688						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GAGTTGCGCCGCTCAGCCACA	0.542																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(5062-5064)Cgg>Tgg		myosin, heavy chain 15							166	171	169					3																	108117615		2085	4225	6310	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108117615G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5062C>T	3.37:g.108117615G>A	ENSP00000273353:p.Arg1688Trp						p.R1688W	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			36	5118	-			1688						Missense_Mutation	SNP	ENST00000273353.3	37	c.5062C>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236895	0.58886	.	.	ENSG00000144821	ENST00000273353	D	0.82167	-1.58	5.5	-4.87	0.03123	Myosin tail (1);	.	.	.	.	D	0.89649	0.6776	M	0.91354	3.2	0.09310	N	1	D	0.76494	0.999	D	0.71414	0.973	T	0.81777	-0.0777	9	0.87932	D	0	.	5.5872	0.17281	0.3958:0.0:0.2415:0.3627	.	1688	Q9Y2K3	MYH15_HUMAN	W	1688	ENSP00000273353:R1688W	ENSP00000273353:R1688W	R	-	1	2	MYH15	109600305	0.520000	0.26250	0.000000	0.03702	0.011000	0.07611	0.443000	0.21644	-0.968000	0.03578	-0.140000	0.14226	CGG		0.542	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		5	223	0	0	0	1	0	5	223					A	108117615	G	A	108117615	3	1	489	1	0	0	0	0	1	0	0	0	10034	1086	38	1	806	1	MYH15	3	108117615	Missense_Mutation	SNP	G	TCGA-ZG-A9LN-01A-11D-A41K-08	7755404	108117615	89904815	14	32581											
KIAA1211	57482	broad.mit.edu	37	chr4	57182747	57182747	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgaggaaaggaagggaCagaagagggacgaggaggaa	16	0	19	6	2	0	2	0	0	0	2	0	10	0	8	2	6	0	0	2	6	4	0			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr4:57182747C>T	ENST00000504228.1	+	6	3184	c.3079C>T	c.(3079-3081)Cag>Tag	p.Q1027*	KIAA1211_ENST00000541073.1_Nonsense_Mutation_p.Q1020*|KIAA1211_ENST00000264229.6_Nonsense_Mutation_p.Q1027*			Q6ZU35	K1211_HUMAN	KIAA1211	1027										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGGAAGGGACAGAAGAGGGA	0.652																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(3079-3081)Cag>Tag		KIAA1211							17	21	19					4																	57182747		1993	4159	6152	SO:0001587	stop_gained	57482							g.chr4:57182747C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3079C>T	4.37:g.57182747C>T	ENSP00000423366:p.Gln1027*					KIAA1211_ENST00000541073.1_Nonsense_Mutation_p.Q1020*|KIAA1211_ENST00000264229.6_Nonsense_Mutation_p.Q1027*	p.Q1027*			Q6ZU35	K1211_HUMAN			6	3184	+	Glioma(25;0.08)|all_neural(26;0.101)		1027					Q9NTE2|Q9NTP8|Q9ULK9	Nonsense_Mutation	SNP	ENST00000504228.1	37	c.3079C>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	41	9.054478	0.99050	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	.	.	.	4.63	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-3.2072	10.7794	0.46369	0.1899:0.8101:0.0:0.0	.	.	.	.	X	1027;1027;1020	.	ENSP00000264229:Q1027X	Q	+	1	0	KIAA1211	56877504	0.003000	0.15002	0.073000	0.20177	0.461000	0.32589	1.033000	0.30191	1.237000	0.43756	0.561000	0.74099	CAG		0.652	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		3	13	0	0	0	1	0	3	13					T	57182747	C	T	57182747	4	4	489	1	0	0	0	0	0	1	0	0	8215	479	17	3	3097	3	KIAA1211	4	57182747	Nonsense_Mutation	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08		57182747	133971529	15	32582											
PDZD2	23037	broad.mit.edu	37	chr5	32052789	32052789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatctccttggaggctcattCggccatccgtcatctcgatc	7	12	8	14	3	4	0	2	0	2	0	9	2	5	1	3	3	0	1	3	3	1	2			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr5:32052789C>T	ENST00000438447.1	+	9	2126	c.1738C>T	c.(1738-1740)Cgg>Tgg	p.R580W	PDZD2_ENST00000282493.3_Missense_Mutation_p.R580W			O15018	PDZD2_HUMAN	PDZ domain containing 2	580					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				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						GAGGCTCATTCGGCCATCCGT	0.483																																						ENST00000438447.1																			0				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						c.(1738-1740)Cgg>Tgg		PDZ domain containing 2							168	158	161					5																	32052789		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32052789C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1738C>T	5.37:g.32052789C>T	ENSP00000402033:p.Arg580Trp					PDZD2_ENST00000282493.3_Missense_Mutation_p.R580W	p.R580W			O15018	PDZD2_HUMAN			9	2126	+			580					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.1738C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839616	0.51057	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.39056	1.1;1.1	5.57	4.7	0.59300	PDZ/DHR/GLGF (1);	0.000000	0.37095	N	0.002248	T	0.47801	0.1465	N	0.19112	0.55	0.39687	D	0.970987	D;D	0.89917	1.0;1.0	D;D	0.73708	0.919;0.981	T	0.55042	-0.8202	10	0.87932	D	0	.	12.1985	0.54311	0.0:0.9176:0.0:0.0824	.	406;580	B4E3P2;O15018	.;PDZD2_HUMAN	W	580;399;580	ENSP00000402033:R580W;ENSP00000282493:R580W	ENSP00000282493:R580W	R	+	1	2	PDZD2	32088546	1.000000	0.71417	0.696000	0.30242	0.011000	0.07611	7.199000	0.77831	1.363000	0.46019	-0.136000	0.14681	CGG		0.483	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			4	127	0	0	0	1	0	4	127					T	32052789	C	T	32052789	3	4	489	1	0	0	0	0	1	0	0	0	11701	875	31	2	1768	2	PDZD2	5	32052789	Missense_Mutation	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08		32052789	148862471	16	32583											
PCDHGA7	56108	broad.mit.edu	37	chr5	140763752	140763752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagccacagatggtggaaCtcctcccttgtccagggaaa	12	7	11	11	0	0	1	0	0	0	1	3	4	3	3	4	3	2	0	4	3	3	1	rs371979287		TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr5:140763752C>T	ENST00000518325.1	+	1	1286	c.1286C>T	c.(1285-1287)aCt>aTt	p.T429I	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	429	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGTGGAACTCCTCCCTTG	0.448																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(1285-1287)aCt>aTt									48	52	51					5																	140763752		1992	4181	6173	SO:0001583	missense	0							g.chr5:140763752C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1286C>T	5.37:g.140763752C>T	ENSP00000430024:p.Thr429Ile					PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	p.T429I	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1286	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.1286C>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	0.883	-0.728030	0.03135	.	.	ENSG00000253537	ENST00000518325	T	0.01821	4.62	5.39	-6.27	0.02026	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01523	0.0049	L	0.43701	1.375	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.18561	0.022;0.005	T	0.45614	-0.9249	9	0.40728	T	0.16	.	1.9461	0.03357	0.161:0.3998:0.1677:0.2715	.	429;429	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	I	429	ENSP00000430024:T429I	ENSP00000430024:T429I	T	+	2	0	PCDHGA7	140743936	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.171000	0.03115	-1.619000	0.01566	-0.813000	0.03139	ACT		0.448	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		7	51	0	0	0	1	0	7	51					T	140763752	C	T	140763752	3	4	489	1	0	0	0	0	1	0	0	0	11559	565	20	3	1288	3	PCDHGA7	5	140763752	Missense_Mutation	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08	108710963	140763752	40151508	17	32584											
PRPF4B	8899	broad.mit.edu	37	chr6	4032911	4032911	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccccctcgcggacactgtCtcctgggagaagagccaaga	10	6	11	14	2	1	3	0	0	1	3	4	5	2	4	4	2	1	0	4	2	2	0			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr6:4032911C>G	ENST00000337659.6	+	2	1260	c.1160C>G	c.(1159-1161)tCt>tGt	p.S387C	PRPF4B_ENST00000538861.1_Missense_Mutation_p.S373C	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	387	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CGGACACTGTCTCCTGGGAGA	0.448																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(1159-1161)tCt>tGt		pre-mRNA processing factor 4B							74	82	79					6																	4032911		2203	4300	6503	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4032911C>G	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"PRP4 pre-mRNA processing factor 4 homolog B (yeast)"			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1160C>G	6.37:g.4032911C>G	ENSP00000337194:p.Ser387Cys					PRPF4B_ENST00000538861.1_Missense_Mutation_p.S373C	p.S387C	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN			2	1260	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	387			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.1160C>G	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017177	0.54576	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.70282	-0.46;-0.47	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000003	T	0.74298	0.3698	L	0.48642	1.525	0.80722	D	1	D	0.69078	0.997	P	0.58577	0.841	T	0.76575	-0.2909	10	0.87932	D	0	.	19.733	0.96192	0.0:1.0:0.0:0.0	.	387	Q13523	PRP4B_HUMAN	C	387;373	ENSP00000337194:S387C;ENSP00000439331:S373C	ENSP00000337194:S387C	S	+	2	0	PRPF4B	3977910	1.000000	0.71417	0.990000	0.47175	0.219000	0.24729	5.545000	0.67237	2.665000	0.90641	0.585000	0.79938	TCT		0.448	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			8	64	0	0	0	1	0	8	64					G	4032911	C	G	4032911	3	3	489	1	0	0	0	0	1	0	0	0	12573	913	32	5	1166	5	PRPF4B	6	4032911	Missense_Mutation	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08		4032911	167082156	18	32585											
PPT2	9374	broad.mit.edu	37	chr6	32123649	32123649	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgccattcgcttgccagaCacggactacttgaagtggct	9	11	10	11	2	0	2	0	1	0	1	1	3	0	3	2	2	3	2	2	2	2	5			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr6:32123649C>A	ENST00000324816.6	+	5	1003	c.435C>A	c.(433-435)gaC>gaA	p.D145E	PPT2_ENST00000375143.2_Splice_Site_p.D145E|PPT2_ENST00000445576.2_Splice_Site_p.D145E|PPT2_ENST00000361568.2_Splice_Site_p.D151E|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000395523.1_Splice_Site_p.D145E|PPT2_ENST00000493548.1_3'UTR|PPT2-EGFL8_ENST00000422437.1_Splice_Site_p.D145E|PPT2_ENST00000375137.2_Splice_Site_p.D145E|PRRT1_ENST00000375150.2_5'Flank|PPT2_ENST00000437001.2_Splice_Site_p.D22E			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	145					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						GCTTGCCAGACACGGACTACT	0.522																																						ENST00000422437.1																			0											c.e5-1									159	129	140					6																	32123649		1511	2709	4220	SO:0001630	splice_region_variant	0							g.chr6:32123649C>A	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.434-1C>A	6.37:g.32123649C>A						PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000361568.2_Splice_Site_p.D151_splice|PPT2_ENST00000375137.2_Splice_Site_p.D145_splice|PPT2_ENST00000324816.6_Splice_Site_p.D145_splice|PPT2_ENST00000445576.2_Splice_Site_p.D145_splice|PPT2_ENST00000375143.2_Splice_Site_p.D145_splice|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000437001.2_Splice_Site_p.D22_splice|PPT2_ENST00000395523.1_Splice_Site_p.D145_splice	p.D145_splice							5	626	+								A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Splice_Site	SNP	ENST00000324816.6	37	c.433_splice	CCDS4742.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490149	0.64074	.	.	ENSG00000221988	ENST00000414204;ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000437001;ENST00000375137;ENST00000375143;ENST00000424499;ENST00000436118	D;D;D;D;D;D;D;D;D	0.96073	-3.37;-3.9;-3.9;-3.9;-3.9;-3.37;-3.9;-3.9;-3.37	5.41	2.64	0.31445	.	0.044726	0.85682	D	0.000000	D	0.91553	0.7332	M	0.79475	2.455	0.80722	D	1	B;B;B	0.24258	0.082;0.1;0.1	B;B;B	0.34038	0.069;0.174;0.174	D	0.87468	0.2412	10	0.29301	T	0.29	.	9.2812	0.37729	0.0:0.7541:0.0:0.2459	.	145;145;151	Q9UMR5-2;Q9UMR5;B0S872	.;PPT2_HUMAN;.	E	145;151;145;145;145;22;145;145;67;145	ENSP00000398847:D145E;ENSP00000354608:D151E;ENSP00000378894:D145E;ENSP00000412381:D145E;ENSP00000320528:D145E;ENSP00000415350:D22E;ENSP00000364279:D145E;ENSP00000364285:D145E;ENSP00000409877:D67E	ENSP00000320528:D145E	D	+	3	2	PPT2	32231627	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.150000	0.42254	0.653000	0.30826	0.557000	0.71058	GAC		0.522	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717	Missense_Mutation	12	70	1	0	4.36969e-10	1	4.753e-10	12	70					A	32123649	C	A	32123649	5	1	489	1	0	0	0	0	0	0	1	0	12412	492	17	5	471	5	PPT2	6	32123649	Splice_Site	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08	28090738	32123649	138991418	19	32586											
LFNG	3955	broad.mit.edu	37	chr7	2566511	2566511	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaaacaagcggaacgcCgtccacgtgaaggggccctt	11	7	12	11	4	0	2	0	2	0	0	1	3	1	3	3	3	3	0	3	3	5	2			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr7:2566511C>G	ENST00000222725.5	+	7	1049	c.1029C>G	c.(1027-1029)gcC>gcG	p.A343A	LFNG_ENST00000402506.1_Silent_p.A272A|LFNG_ENST00000338732.3_Silent_p.A214A|MIR4648_ENST00000580107.1_RNA|LFNG_ENST00000359574.3_Silent_p.A343A|LFNG_ENST00000402045.1_Silent_p.A214A	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	343					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		AGCGGAACGCCGTCCACGTGA	0.677																																						ENST00000222725.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(1027-1029)gcC>gcG		LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							35	36	35					7																	2566511		2203	4300	6503	SO:0001819	synonymous_variant	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2566511C>G	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"Beta 3-glycosyltransferases"	6560	protein-coding gene	gene with protein product		602576	"lunatic fringe (Drosophila) homolog", "lunatic fringe homolog (Drosophila)"			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.1029C>G	7.37:g.2566511C>G						LFNG_ENST00000359574.3_Silent_p.A343A|LFNG_ENST00000338732.3_Silent_p.A214A|LFNG_ENST00000402045.1_Silent_p.A214A|LFNG_ENST00000402506.1_Silent_p.A272A	p.A343A	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	7	1049	+		Ovarian(82;0.0112)	343					B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Silent	SNP	ENST00000222725.5	37	c.1029C>G	CCDS34587.1																																																																																				0.677	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		5	26	0	0	0	1	0	5	26					G	2566511	C	G	2566511	2	3	489	1	0	0	0	0	0	0	0	1	8737	639	23	5		5	LFNG	7	2566511	Silent	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08		2566511	156572152	20	32587											
YKT6	10652	broad.mit.edu	37	chr7	44250637	44250637	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcacaacaccatggagTctctgttagagcgaggtgag	11	8	12	10	1	1	2	0	1	1	1	3	4	2	3	2	2	3	2	2	2	2	1			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr7:44250637T>A	ENST00000223369.2	+	6	562	c.475T>A	c.(475-477)Tct>Act	p.S159T	YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Intron	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	159	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				ER to Golgi vesicle-mediated transport (GO:0006888)|metabolic process (GO:0008152)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle docking involved in exocytosis (GO:0006904)|vesicle targeting (GO:0006903)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|SNARE complex (GO:0031201)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						CACCATGGAGTCTCTGTTAGA	0.478																																						ENST00000223369.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(475-477)Tct>Act		YKT6 v-SNARE homolog (S. cerevisiae)							109	107	108					7																	44250637		2203	4300	6503	SO:0001583	missense	10652				ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting	cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex	protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity	g.chr7:44250637T>A	BC007319	CCDS5482.1	7p13	2006-07-07			ENSG00000106636	ENSG00000106636			16959	protein-coding gene	gene with protein product	"R-SNARE"	606209				15479160, 15544955	Standard	NM_006555		Approved		uc003tkm.3	O15498	OTTHUMG00000129089	ENST00000223369.2:c.475T>A	7.37:g.44250637T>A	ENSP00000223369:p.Ser159Thr					YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Intron	p.S159T	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN			6	562	+			159			v-SNARE coiled-coil homology.		B4DR94|Q53F01|Q6FGU9|Q6IB15	Missense_Mutation	SNP	ENST00000223369.2	37	c.475T>A	CCDS5482.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.449568	0.63178	.	.	ENSG00000106636	ENST00000223369	T	0.43294	0.95	5.27	5.27	0.74061	Synaptobrevin (2);	0.112667	0.64402	D	0.000010	T	0.53481	0.1799	M	0.87827	2.91	0.54753	D	0.999988	B	0.25390	0.125	B	0.33339	0.162	T	0.59429	-0.7456	10	0.87932	D	0	-0.0825	12.7419	0.57257	0.0:0.0:0.0:1.0	.	159	O15498	YKT6_HUMAN	T	159	ENSP00000223369:S159T	ENSP00000223369:S159T	S	+	1	0	YKT6	44217162	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	5.682000	0.68182	1.997000	0.58415	0.533000	0.62120	TCT		0.478	YKT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251125.2	NM_006555		10	49	0	0	0	1	0	10	49					A	44250637	T	A	44250637	3	1	489	1	0	0	0	0	1	0	0	0	17482	1667	58	5	497	5	YKT6	7	44250637	Missense_Mutation	SNP	T	TCGA-ZG-A9LN-01A-11D-A41K-08	41684126	44250637	114888026	21	32588											
CNBD1	168975	broad.mit.edu	37	chr8	87951839	87951839	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggaactcaatgaaggCaaagaggaaagtcaacatca	18	6	10	7	0	4	2	4	1	0	1	4	4	4	4	0	3	2	1	0	3	6	1			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr8:87951839C>T	ENST00000518476.1	+	4	339	c.288C>T	c.(286-288)ggC>ggT	p.G96G		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	96										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TCAATGAAGGCAAAGAGGAAA	0.338																																						ENST00000518476.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						c.(286-288)ggC>ggT		cyclic nucleotide binding domain containing 1							107	104	105					8																	87951839		1837	4087	5924	SO:0001819	synonymous_variant	168975							g.chr8:87951839C>T	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.288C>T	8.37:g.87951839C>T							p.G96G	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN			4	339	+			96						Silent	SNP	ENST00000518476.1	37	c.288C>T	CCDS55259.1																																																																																				0.338	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		8	42	0	0	0	1	0	8	42					T	87951839	C	T	87951839	2	4	489	1	0	0	0	0	0	0	0	1	3591	697	25	3		3	CNBD1	8	87951839	Silent	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08		87951839	58412183	22	32589											
CSMD3	114788	broad.mit.edu	37	chr8	114449051	114449051	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagggtttggattccttTgctcggctttcccctttgcg	2	16	10	13	2	0	0	0	0	0	0	4	1	3	1	4	3	2	3	4	3	0	5			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr8:114449051T>A	ENST00000297405.5	-	1	277	c.33A>T	c.(31-33)gcA>gcT	p.A11A	CSMD3_ENST00000455883.2_Silent_p.A11A|CSMD3_ENST00000352409.3_Silent_p.A11A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						TGGATTCCTTTGCTCGGCTTT	0.512										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	OREG0018933	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000297405.5																			0				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						c.(31-33)gcA>gcT		CUB and Sushi multiple domains 3							103	110	108					8																	114449051		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:114449051T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.33A>T	8.37:g.114449051T>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	OREG0018933	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1458	CSMD3_ENST00000352409.3_Silent_p.A11A|CSMD3_ENST00000455883.2_Silent_p.A11A	p.A11A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			1	277	-			11					Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.33A>T	CCDS6315.1																																																																																				0.512	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		18	98	0	0	0	1	0	18	98					A	114449051	T	A	114449051	2	1	489	1	0	0	0	0	0	0	0	1	3946	1799	63	5		5	CSMD3	8	114449051	Silent	SNP	T	TCGA-ZG-A9LN-01A-11D-A41K-08	26497212	114449051	31914971	23	32590											
PRUNE2	158471	broad.mit.edu	37	chr9	79322279	79322279	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcctgtttcaggactggaTaaagaggaaaaggaatcacc	14	9	11	7	0	2	1	2	0	0	1	2	5	2	5	2	4	1	1	2	4	5	3			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr9:79322279T>C	ENST00000376718.3	-	8	5034	c.4911A>G	c.(4909-4911)ttA>ttG	p.L1637L	PRUNE2_ENST00000428286.1_Silent_p.L1278L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1637					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAGGACTGGATAAAGAGGAAA	0.368																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(3832-3834)ttA>ttG		prune homolog 2 (Drosophila)							54	47	49					9																	79322279		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322279T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4911A>G	9.37:g.79322279T>C						PRUNE2_ENST00000376718.3_Silent_p.L1637L	p.L1278L			Q8WUY3	PRUN2_HUMAN			8	5034	-			1637					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.3834A>G	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	1.864	-0.461978	0.04508	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.91	0.605	0.17553	.	.	.	.	.	T	0.54255	0.1847	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42716	-0.9435	4	.	.	.	-5.3206	7.491	0.27462	0.0:0.1901:0.1098:0.7001	.	.	.	.	V	959	.	.	I	-	1	0	PRUNE2	78512099	1.000000	0.71417	0.981000	0.43875	0.416000	0.31233	1.011000	0.29911	-0.089000	0.12484	-1.139000	0.01908	ATC		0.368	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		3	45	0	0	0	1	0	3	45					C	79322279	T	C	79322279	2	2	489	1	0	0	0	0	0	0	0	1	12641	1403	49	4		4	PRUNE2	9	79322279	Silent	SNP	T	TCGA-ZG-A9LN-01A-11D-A41K-08		79322279	61891152	24	32591											
RMI1	80010	broad.mit.edu	37	chr9	86617189	86617189	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagataataaaataaaacaaAccagcagttcagatagccat	21	7	5	8	0	1	2	1	0	0	2	1	2	1	2	2	0	4	2	2	0	7	5			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr9:86617189A>G	ENST00000325875.3	+	3	1620	c.1288A>G	c.(1288-1290)Acc>Gcc	p.T430A		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	430					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AATAAAACAAACCAGCAGTTC	0.289																																						ENST00000325875.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1288-1290)Acc>Gcc		RecQ mediated genome instability 1							37	45	42					9																	86617189		2180	4282	6462	SO:0001583	missense	80010				DNA replication	nucleus		g.chr9:86617189A>G	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"BLM-Associated Polypeptide, 75 kDa"	610404	"chromosome 9 open reading frame 76", "RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1288A>G	9.37:g.86617189A>G	ENSP00000317039:p.Thr430Ala						p.T430A	NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN			3	1620	+			430					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	c.1288A>G	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	A	0.350	-0.945333	0.02304	.	.	ENSG00000178966	ENST00000325875	T	0.30981	1.51	5.21	-3.27	0.05048	.	1.540700	0.03547	N	0.224886	T	0.15652	0.0377	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19321	-1.0309	9	.	.	.	0.8107	6.4948	0.22136	0.3575:0.2471:0.3954:0.0	.	430	Q9H9A7	RMI1_HUMAN	A	430	ENSP00000317039:T430A	.	T	+	1	0	RMI1	85807009	0.000000	0.05858	0.001000	0.08648	0.884000	0.51177	0.690000	0.25451	-0.177000	0.10690	-0.316000	0.08728	ACC		0.289	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		10	54	0	0	0	1	0	10	54					G	86617189	A	G	86617189	3	3	489	1	0	0	0	0	1	0	0	0	13395	43	2	4	1290	4	RMI1	9	86617189	Missense_Mutation	SNP	A	TCGA-ZG-A9LN-01A-11D-A41K-08	7294910	86617189	54596242	25	32592											
COL5A1	1289	broad.mit.edu	37	chr9	137593107	137593107	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaaattcctcgaccgcagCgaccaccccatgatcgacat	12	6	6	17	4	0	1	0	1	0	0	3	4	1	1	6	0	1	1	6	0	1	1	rs563191799		TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr9:137593107C>T	ENST00000371817.3	+	4	996	c.582C>T	c.(580-582)agC>agT	p.S194S	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	194	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			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)		TCGACCGCAGCGACCACCCCA	0.522													C|||	1	0.000199681	0	0	5008	,	,		20096	0		0	False		,,,				2504	0.001					ENST00000371817.3																			0				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						c.(580-582)agC>agT		collagen, type V, alpha 1							170	124	140					9																	137593107		2203	4300	6503	SO:0001819	synonymous_variant	1289				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	g.chr9:137593107C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.582C>T	9.37:g.137593107C>T						COL5A1_ENST00000464187.1_3'UTR	p.S194S	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		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)	4	996	+		Myeloproliferative disorder(178;0.0341)	194			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.582C>T	CCDS6982.1																																																																																				0.522	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		7	27	0	0	0	1	0	7	27					T	137593107	C	T	137593107	2	4	489	1	0	0	0	0	0	0	0	1	3696	767	27	1		1	COL5A1	9	137593107	Silent	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08	50975918	137593107	3620324	26	32593											
GBF1	8729	broad.mit.edu	37	chr10	104140416	104140416	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccctcacctacgagatGaactcttcaagcagaccgtc	10	10	6	15	2	4	3	2	1	2	2	6	4	4	3	3	0	3	1	3	0	3	3			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr10:104140416G>T	ENST00000369983.3	+	38	5403	c.5143G>T	c.(5143-5145)Gaa>Taa	p.E1715*		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1715					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCTACGAGATGAACTCTTCAA	0.567																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(5143-5145)Gaa>Taa		golgi brefeldin A resistant guanine nucleotide exchange factor 1							209	229	222					10																	104140416		2203	4300	6503	SO:0001587	stop_gained	8729				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	g.chr10:104140416G>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.5143G>T	10.37:g.104140416G>T	ENSP00000359000:p.Glu1715*						p.E1715*	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	38	5403	+		Colorectal(252;0.0236)	1715					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Nonsense_Mutation	SNP	ENST00000369983.3	37	c.5143G>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	45	11.930526	0.99618	.	.	ENSG00000107862	ENST00000369983	.	.	.	5.91	5.91	0.95273	.	0.104523	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.7957	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	X	1715	.	ENSP00000359000:E1715X	E	+	1	0	GBF1	104130406	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.692000	0.98682	2.793000	0.96121	0.655000	0.94253	GAA		0.567	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			37	223	1	0	5.71845e-15	1	6.44625e-15	37	223					T	104140416	G	T	104140416	4	4	489	1	0	0	0	0	0	1	0	0	6271	1291	45	5	5289	5	GBF1	10	104140416	Nonsense_Mutation	SNP	G	TCGA-ZG-A9LN-01A-11D-A41K-08		104140416	31394331	27	32594											
PHC1	1911	broad.mit.edu	37	chr12	9086978	9086978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatggtgtctagacaaatGggtgactcaaaacccccaca	13	7	9	12	0	2	2	1	1	1	1	2	2	2	2	3	2	1	0	3	2	4	1			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr12:9086978G>T	ENST00000543824.1	+	11	2489	c.2157G>T	c.(2155-2157)atG>atT	p.M719I	PHC1_ENST00000433083.2_Missense_Mutation_p.M674I|PHC1_ENST00000536844.1_Missense_Mutation_p.M325I|PHC1_ENST00000544916.1_Missense_Mutation_p.M719I			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	719					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CTAGACAAATGGGTGACTCAA	0.517																																						ENST00000433083.2																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(2020-2022)atG>atT		polyhomeotic homolog 1 (Drosophila)							70	69	69					12																	9086978		2203	4293	6496	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9086978G>T	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2157G>T	12.37:g.9086978G>T	ENSP00000440674:p.Met719Ile					PHC1_ENST00000543824.1_Missense_Mutation_p.M719I|PHC1_ENST00000536844.1_Missense_Mutation_p.M325I|PHC1_ENST00000544916.1_Missense_Mutation_p.M719I	p.M674I			P78364	PHC1_HUMAN			9	2167	+			719					D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.2022G>T	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	G	4.846	0.157212	0.09236	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.7	3.76	0.43208	.	0.432981	0.26971	N	0.021571	T	0.25494	0.0620	N	0.22421	0.69	0.34242	D	0.677741	B	0.02656	0.0	B	0.01281	0.0	T	0.25222	-1.0138	10	0.21540	T	0.41	-9.2756	8.5004	0.33154	0.0782:0.0:0.7696:0.1522	.	719	P78364	PHC1_HUMAN	I	719;719;674;719;325	ENSP00000440674:M719I;ENSP00000251757:M719I;ENSP00000399194:M674I;ENSP00000437659:M719I;ENSP00000440488:M325I	ENSP00000251757:M719I	M	+	3	0	PHC1	8978245	0.997000	0.39634	0.993000	0.49108	0.013000	0.08279	0.778000	0.26732	1.412000	0.46977	0.655000	0.94253	ATG		0.517	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		17	59	1	0	9.7654e-05	1	0.000100909	17	59					T	9086978	G	T	9086978	3	4	489	1	0	0	0	0	1	0	0	0	11816	1348	47	5	2191	5	PHC1	12	9086978	Missense_Mutation	SNP	G	TCGA-ZG-A9LN-01A-11D-A41K-08		9086978	124764917	28	32595											
DDX11	1663	broad.mit.edu	37	chr12	31236844	31236844	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgactccttgaaactggaaCtggccccttacatgatgaga	12	9	9	11	1	0	3	0	3	0	1	1	6	1	4	3	2	3	0	3	2	3	2			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr12:31236844C>G	ENST00000407793.2	+	3	493	c.242C>G	c.(241-243)aCt>aGt	p.T81S	DDX11_ENST00000228264.6_Missense_Mutation_p.T55S|DDX11_ENST00000542838.1_Missense_Mutation_p.T81S|DDX11_ENST00000251758.5_Missense_Mutation_p.T81S|DDX11_ENST00000350437.4_Missense_Mutation_p.T81S|DDX11_ENST00000545668.1_Missense_Mutation_p.T81S	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	81	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAACTGGAACTGGCCCCTTA	0.547										Multiple Myeloma(12;0.14)																												ENST00000251758.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(241-243)aCt>aGt		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							46	55	52					12																	31236844		2200	4295	6495	SO:0001583	missense	1663				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	g.chr12:31236844C>G	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.242C>G	12.37:g.31236844C>G	ENSP00000384703:p.Thr81Ser	Multiple Myeloma(12;0.14)				DDX11_ENST00000228264.6_Missense_Mutation_p.T55S|DDX11_ENST00000545668.1_Missense_Mutation_p.T81S|DDX11_ENST00000407793.2_Missense_Mutation_p.T81S|DDX11_ENST00000542838.1_Missense_Mutation_p.T81S|DDX11_ENST00000350437.4_Missense_Mutation_p.T81S	p.T81S			Q96FC9	DDX11_HUMAN			3	493	+	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)		81			Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.242C>G	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	1.034	-0.680889	0.03353	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437;ENST00000535317	T;T;T;T;T;T;T;T;T	0.57595	4.17;4.17;4.17;4.17;0.39;4.17;4.17;4.17;4.17	4.48	3.5	0.40072	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.948224	0.08936	N	0.872311	T	0.30854	0.0778	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.17268	0.003;0.021;0.006;0.013	B;B;B;B	0.12837	0.005;0.008;0.005;0.006	T	0.12915	-1.0529	10	0.07644	T	0.81	.	9.3167	0.37939	0.0:0.8825:0.0:0.1175	.	81;81;81;81	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	S	81;81;81;55;81;55;81;81;117	ENSP00000443426:T81S;ENSP00000384703:T81S;ENSP00000251758:T81S;ENSP00000228264:T55S;ENSP00000407646:T81S;ENSP00000406457:T55S;ENSP00000440402:T81S;ENSP00000309965:T81S;ENSP00000440171:T117S	ENSP00000228264:T55S	T	+	2	0	DDX11	31128111	0.000000	0.05858	0.004000	0.12327	0.145000	0.21501	0.062000	0.14389	2.330000	0.79161	0.430000	0.28490	ACT		0.547	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		12	77	0	0	0	1	0	12	77					G	31236844	C	G	31236844	3	3	489	1	0	0	0	0	1	0	0	0	4343	565	20	5	248	5	DDX11	12	31236844	Missense_Mutation	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08	22149866	31236844	102615051	29	32596											
NCKAP1L	3071	broad.mit.edu	37	chr12	54912463	54912463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtgtgtccagaggaggagtCcatcatcatgtcctcattcg	8	12	11	10	1	3	1	3	0	0	1	7	3	6	3	3	2	0	0	3	2	0	1			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr12:54912463C>T	ENST00000293373.6	+	14	1446	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S406F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	456					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GAGGAGGAGTCCATCATCATG	0.498																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(1366-1368)tCc>tTc		NCK-associated protein 1-like							245	204	218					12																	54912463		2203	4300	6503	SO:0001583	missense	3071				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	g.chr12:54912463C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1367C>T	12.37:g.54912463C>T	ENSP00000293373:p.Ser456Phe					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S406F	p.S456F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			14	1446	+			456					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1367C>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853439	0.91355	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.35973	1.28;1.28	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.65203	-0.6225	10	0.66056	D	0.02	-17.0057	17.4922	0.87707	0.0:1.0:0.0:0.0	.	456	P55160	NCKPL_HUMAN	F	456;406	ENSP00000293373:S456F;ENSP00000445596:S406F	ENSP00000293373:S456F	S	+	2	0	NCKAP1L	53198730	1.000000	0.71417	0.978000	0.43139	0.917000	0.54804	7.578000	0.82498	2.724000	0.93272	0.561000	0.74099	TCC		0.498	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		17	81	0	0	0	1	0	17	81					T	54912463	C	T	54912463	3	4	489	1	0	0	0	0	1	0	0	0	10222	855	30	3	1421	3	NCKAP1L	12	54912463	Missense_Mutation	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08	23675619	54912463	78939432	30	32597											
OAS3	4940	broad.mit.edu	37	chr12	113376377	113376377	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgctgcgctggacaggttCgtggccagaaggctgcagcc	6	6	16	13	3	0	1	0	0	0	1	1	2	0	2	3	4	3	5	3	4	1	1			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr12:113376377C>T	ENST00000228928.7	+	1	221	c.42C>T	c.(40-42)ttC>ttT	p.F14F	OAS3_ENST00000548514.1_Silent_p.F14F|OAS3_ENST00000546638.1_3'UTR|RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000551007.1_Silent_p.F14F	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	14	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGGACAGGTTCGTGGCCAGAA	0.726																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(40-42)ttC>ttT		2'-5'-oligoadenylate synthetase 3, 100kDa							12	14	13					12																	113376377		1792	3988	5780	SO:0001819	synonymous_variant	4940				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	g.chr12:113376377C>T	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.42C>T	12.37:g.113376377C>T						OAS3_ENST00000546638.1_3'UTR|OAS3_ENST00000548514.1_Silent_p.F14F|RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000551007.1_Silent_p.F14F	p.F14F	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			1	221	+			14			OAS domain 1.		Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	c.42C>T	CCDS44981.1																																																																																				0.726	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			4	20	0	0	0	1	0	4	20					T	113376377	C	T	113376377	2	4	489	1	0	0	0	0	0	0	0	1	10801	883	31	2		2	OAS3	12	113376377	Silent	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08	58463914	113376377	20475518	31	32598											
LOC81691	81691	broad.mit.edu	37	chr16	20824580	20824580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgaccagctgtgtgaattGctgaagtatgcagttctggg	9	12	13	7	0	1	3	0	3	1	0	1	3	1	3	1	1	3	5	1	1	3	3			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr16:20824580G>T	ENST00000261377.6	+	3	416	c.207G>T	c.(205-207)ttG>ttT	p.L69F	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.L69F|AC004381.6_ENST00000348433.6_Missense_Mutation_p.L69F|AC004381.6_ENST00000567297.1_3'UTR	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TGTGTGAATTGCTGAAGTATG	0.398																																						ENST00000261377.6																			0											c.(205-207)ttG>ttT									77	73	74					16																	20824580		2201	4300	6501	SO:0001583	missense	0							g.chr16:20824580G>T																												ENST00000261377.6:c.207G>T	16.37:g.20824580G>T	ENSP00000261377:p.Leu69Phe					ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.L69F|AC004381.6_ENST00000567297.1_3'UTR|AC004381.6_ENST00000564274.1_Missense_Mutation_p.L69F	p.L69F	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					3	416	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.207G>T	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554982	0.65425	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.57907	0.37;0.71	5.56	1.01	0.19927	.	0.149577	0.44285	D	0.000465	T	0.51839	0.1698	M	0.65498	2.005	0.43018	D	0.994561	D;P	0.59767	0.986;0.772	P;B	0.51895	0.683;0.418	T	0.51663	-0.8677	10	0.51188	T	0.08	-10.047	3.03	0.06103	0.1498:0.1142:0.5371:0.1988	.	69;69	Q96IC2-2;Q96IC2	.;REXON_HUMAN	F	69	ENSP00000261378:L69F;ENSP00000261377:L69F	ENSP00000261377:L69F	L	+	3	2	AC004381.6	20732081	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.340000	0.19892	0.720000	0.32209	0.561000	0.74099	TTG		0.398	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			3	48	1	0	0.115264	1	0.115264	3	48					T	20824580	G	T	20824580	3	4	489	1	0	0	0	0	1	0	0	0	8890	1310	46	5	213	5	LOC81691	16	20824580	Missense_Mutation	SNP	G	TCGA-ZG-A9LN-01A-11D-A41K-08		20824580	69530173	32	32599											
ITGAL	3683	broad.mit.edu	37	chr16	30518157	30518157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccccgggactctccttcCgcaaggtggagatgctgaag	7	8	12	14	2	1	2	0	1	1	1	4	4	3	3	5	3	1	2	5	3	2	1			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr16:30518157C>T	ENST00000356798.6	+	21	2668	c.2488C>T	c.(2488-2490)Cgc>Tgc	p.R830C	ITGAL_ENST00000433423.2_Intron|MIR4518_ENST00000580665.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.R746C	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	830					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			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					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	ACTCTCCTTCCGCAAGGTGGA	0.607																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				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						c.(2488-2490)Cgc>Tgc		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						110	107	108					16																	30518157		2197	4300	6497	SO:0001583	missense	0				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	g.chr16:30518157C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2488C>T	16.37:g.30518157C>T	ENSP00000349252:p.Arg830Cys					ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.R746C	p.R830C	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			21	2668	+			830					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2488C>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	c	18.18	3.566240	0.65651	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.48836	0.8;0.8	5.2	2.99	0.34606	Integrin alpha-2 (1);	0.000000	0.39341	N	0.001386	T	0.62998	0.2474	M	0.80847	2.515	0.80722	D	1	D;D	0.67145	0.996;0.992	P;P	0.58660	0.843;0.843	T	0.68969	-0.5269	10	0.87932	D	0	.	11.3024	0.49314	0.342:0.658:0.0:0.0	.	746;830	Q96HB1;P20701	.;ITAL_HUMAN	C	830;746	ENSP00000349252:R830C;ENSP00000350886:R746C	ENSP00000349252:R830C	R	+	1	0	ITGAL	30425658	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	1.680000	0.37607	1.180000	0.42898	0.437000	0.28790	CGC		0.607	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			26	98	0	0	0	1	0	26	98					T	30518157	C	T	30518157	3	4	489	1	0	0	0	0	1	0	0	0	7886	652	23	2	2570	2	ITGAL	16	30518157	Missense_Mutation	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08	9693577	30518157	59836596	33	32600											
LDHD	197257	broad.mit.edu	37	chr16	75148567	75148567	+	Frame_Shift_Del	DEL	G	G	-																															gccgccatgccacagagagaGgcgtccgcgcctgggtctgg																										TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr16:75148567delG	ENST00000450168.2	-	5	536	c.486delC	c.(484-486)gccfs	p.A162fs	LDHD_ENST00000300051.4_Frame_Shift_Del_p.A162fs	NM_194436.2	NP_919417.1			lactate dehydrogenase D											endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CACAGAGAGAGGCGTCCGCGC	0.706																																						ENST00000300051.4																			0				endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						c.(484-486)gcfs		lactate dehydrogenase D							10	12	11					16																	75148567		2115	4137	6252	SO:0001589	frameshift_variant	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75148567delG	AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.486delC	16.37:g.75148567delG	ENSP00000417011:p.Ala162fs					LDHD_ENST00000450168.2_Frame_Shift_Del_p.A162fs	p.A162fs	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN			5	532	-			162			FAD-binding PCMH-type.			Frame_Shift_Del	DEL	ENST00000450168.2	37	c.486delC	CCDS45529.1																																																																																				0.706	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434651.1	NM_153486		2	4						2	4	---	---	---	---	-	75148567	G	-	75148567	7	5	489	1	0	1	0	1	0	0	0	0	8703	987	35	0	1065	0	LDHD	16	75148567	Frame_Shift_Del	DEL	G	TCGA-ZG-A9LN-01A-11D-A41K-08	44630410	75148567	15206186	34	32601											
HMG20B	10362	broad.mit.edu	37	chr19	3573797	3573797	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggtcccacgaggaggAggtgagagtccctgcgctga	9	5	18	9	2	0	2	0	2	0	1	2	7	2	4	2	5	1	1	2	5	1	0			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr19:3573797A>T	ENST00000333651.6	+	3	221	c.146A>T	c.(145-147)gAg>gTg	p.E49V	HMG20B_ENST00000585741.1_3'UTR|MFSD12_ENST00000591878.1_5'Flank	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	49					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of protein sumoylation (GO:0033234)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGAGGAGGAGGTGAGAGTC	0.711																																						ENST00000333651.6																			0				cervix(1)	1						c.e3+1		high mobility group 20B							9	14	13					19																	3573797		1925	4095	6020	SO:0001630	splice_region_variant	10362				blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3573797A>T	BC003505	CCDS45919.1	19p13.3	2011-07-01	2011-04-05		ENSG00000064961	ENSG00000064961		"High mobility group / Non-canonical"	5002	protein-coding gene	gene with protein product	"HMG box domain containing 2"	605535	"high-mobility group 20B"			10773667	Standard	NM_006339		Approved	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2	uc002lya.3	Q9P0W2	OTTHUMG00000150437	ENST00000333651.6:c.147+1A>T	19.37:g.3573797A>T						HMG20B_ENST00000585741.1_3'UTR	p.E49_splice	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	3	221	+		Hepatocellular(1079;0.137)	49					A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	Splice_Site	SNP	ENST00000333651.6	37	c.147_splice	CCDS45919.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328636	0.60743	.	.	ENSG00000064961	ENST00000416526;ENST00000333651;ENST00000417382;ENST00000453933;ENST00000262949	T;T;D;D	0.90444	-1.42;-0.43;-2.67;-1.64	2.63	2.63	0.31362	.	0.239294	0.33253	U	0.005103	D	0.90345	0.6979	L	0.32530	0.975	0.35391	D	0.790764	D;D;P	0.67145	0.981;0.996;0.952	P;D;P	0.77557	0.617;0.99;0.521	D	0.90643	0.4576	10	0.54805	T	0.06	-24.2427	7.029	0.24956	1.0:0.0:0.0:0.0	.	49;49;49	A8K0D5;B5MDG7;Q9P0W2	.;.;HM20B_HUMAN	V	49	ENSP00000410924:E49V;ENSP00000328269:E49V;ENSP00000393904:E49V;ENSP00000402877:E49V	ENSP00000262949:E49V	E	+	2	0	HMG20B	3524797	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.348000	0.52209	1.216000	0.43427	0.260000	0.18958	GAG		0.711	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318088.1	NM_006339	Missense_Mutation	6	24	0	0	0	1	0	6	24					T	3573797	A	T	3573797	5	4	489	1	0	0	0	0	0	0	1	0	7222	318	11	5	152	5	HMG20B	19	3573797	Splice_Site	SNP	A	TCGA-ZG-A9LN-01A-11D-A41K-08		3573797	55555186	35	32602											
ZNF536	9745	broad.mit.edu	37	chr19	30936514	30936514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgaccaggagtcccagtCggtgagccgctccaccacgc	8	5	12	16	3	0	2	0	2	0	0	3	3	2	3	5	2	1	1	5	2	0	0			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr19:30936514C>T	ENST00000355537.3	+	2	2192	c.2045C>T	c.(2044-2046)tCg>tTg	p.S682L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	682					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			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)					GAGTCCCAGTCGGTGAGCCGC	0.711																																						ENST00000355537.3																			0				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						c.(2044-2046)tCg>tTg		zinc finger protein 536							27	30	29					19																	30936514		2200	4295	6495	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936514C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2045C>T	19.37:g.30936514C>T	ENSP00000347730:p.Ser682Leu						p.S682L	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	2192	+	Esophageal squamous(110;0.0834)		682					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2045C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205941	0.79127	.	.	ENSG00000198597	ENST00000355537	T	0.11277	2.79	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	N	0.24115	0.695	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.04664	-1.0935	10	0.28530	T	0.3	-16.7377	19.4311	0.94768	0.0:1.0:0.0:0.0	.	682;682	A7E228;O15090	.;ZN536_HUMAN	L	682	ENSP00000347730:S682L	ENSP00000347730:S682L	S	+	2	0	ZNF536	35628354	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.413000	0.80104	2.557000	0.86248	0.655000	0.94253	TCG		0.711	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		4	24	0	0	0	1	0	4	24					T	30936514	C	T	30936514	3	4	489	1	0	0	0	0	1	0	0	0	17971	893	31	2	2047	2	ZNF536	19	30936514	Missense_Mutation	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08	27362717	30936514	28192469	36	32603											
CD79A	973	broad.mit.edu	37	chr19	42383245	42383245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggcgaggaccccaatGgtacgctgatcatccagaat	10	6	12	13	3	1	2	1	1	0	1	2	4	2	3	4	3	1	2	4	3	3	1			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr19:42383245G>T	ENST00000221972.3	+	2	450	c.265G>T	c.(265-267)Ggt>Tgt	p.G89C	CD79A_ENST00000444740.2_Splice_Site_p.E89*	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	89	Ig-like C2-type.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GGACCCCAATGGTACGCTGAT	0.602			"O, S"		DLBCL																																	ENST00000221972.3				Dom	yes		19	19q13.2	973	"O, S"	"CD79a molecule, immunoglobulin-associated alpha"			L			DLBCL		0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(265-267)Ggt>Tgt		CD79a molecule, immunoglobulin-associated alpha							92	81	85					19																	42383245		2203	4300	6503	SO:0001583	missense	0				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	g.chr19:42383245G>T	M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1698	protein-coding gene	gene with protein product		112205	"CD79A antigen (immunoglobulin-associated alpha)"	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.265G>T	19.37:g.42383245G>T	ENSP00000221972:p.Gly89Cys					CD79A_ENST00000444740.2_Splice_Site_p.E89_splice	p.G89C	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN			2	450	+			89			Ig-like C2-type.		A0N775|Q53FB8	Missense_Mutation	SNP	ENST00000221972.3	37	c.265G>T	CCDS12589.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.076714|4.076714	0.76415|0.76415	.|.	.|.	ENSG00000105369|ENSG00000105369	ENST00000444740|ENST00000221972	.|T	.|0.69435	.|-0.4	5.06|5.06	2.95|2.95	0.34219|0.34219	.|Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.161453	.|0.37348	.|N	.|0.002139	.|T	.|0.77438	.|0.4130	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	.|T	.|0.81302	.|-0.0994	.|8	0.30854|0.52906	T|T	0.27|0.07	-25.8835|-25.8835	7.6002|7.6002	0.28071|0.28071	0.1873:0.0:0.8127:0.0|0.1873:0.0:0.8127:0.0	.|.	.|89	.|P11912	.|CD79A_HUMAN	X|C	89|89	.|ENSP00000221972:G89C	ENSP00000400605:E89X|ENSP00000221972:G89C	E|G	+|+	1|1	0|0	CD79A|CD79A	47075085|47075085	0.492000|0.492000	0.26027|0.26027	0.022000|0.022000	0.16811|0.16811	0.013000|0.013000	0.08279|0.08279	1.542000|1.542000	0.36137|0.36137	0.860000|0.860000	0.35481|0.35481	0.650000|0.650000	0.86243|0.86243	GAG|GGT		0.602	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463058.1			7	53	1	0	2.0095e-06	1	2.14808e-06	7	53					T	42383245	G	T	42383245	3	4	489	1	0	0	0	0	1	0	0	0	3036	1362	47	5	271	5	CD79A	19	42383245	Missense_Mutation	SNP	G	TCGA-ZG-A9LN-01A-11D-A41K-08	11446731	42383245	16745738	37	32604											
KLK3	354	broad.mit.edu	37	chr19	51361464	51361464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctccgcctgtcagagcCtgccgagctcacggatgctg	5	8	13	15	3	2	1	2	0	0	1	3	3	3	2	4	1	5	4	4	1	0	0			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr19:51361464C>T	ENST00000326003.2	+	3	427	c.386C>T	c.(385-387)cCt>cTt	p.P129L	KLK3_ENST00000595952.1_Missense_Mutation_p.P86L|KLK3_ENST00000593997.1_Missense_Mutation_p.P129L|KLK3_ENST00000597483.1_Missense_Mutation_p.P86L|KLK3_ENST00000360617.3_Missense_Mutation_p.P129L	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	129	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CTGTCAGAGCCTGCCGAGCTC	0.612																																					Colon(185;1767 2023 13025 30120 37630)	ENST00000360617.3																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(385-387)cCt>cTt		kallikrein-related peptidase 3							74	63	67					19																	51361464		2203	4300	6503	SO:0001583	missense	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361464C>T	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"Kallikreins"	6364	protein-coding gene	gene with protein product		176820	"kallikrein 3, (prostate specific antigen)"	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.386C>T	19.37:g.51361464C>T	ENSP00000314151:p.Pro129Leu					KLK3_ENST00000595952.1_Missense_Mutation_p.P86L|KLK3_ENST00000597483.1_Missense_Mutation_p.P86L|KLK3_ENST00000593997.1_Missense_Mutation_p.P129L|KLK3_ENST00000326003.2_Missense_Mutation_p.P129L	p.P129L			P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	3	386	+		all_neural(266;0.057)	129			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	c.386C>T	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464894	0.43839	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617	T;T	0.09911	2.93;2.93	2.31	1.25	0.21368	.	0.199703	0.25143	N	0.032806	T	0.31231	0.0790	M	0.87456	2.885	0.24791	N	0.992751	D;D	0.89917	1.0;0.987	D;P	0.75484	0.986;0.777	T	0.03784	-1.1004	10	0.87932	D	0	.	7.002	0.24815	0.0:0.8466:0.0:0.1534	.	129;86	G3XAE3;G3V0H4	.;.	L	129;86;129	ENSP00000314151:P129L;ENSP00000353829:P129L	ENSP00000314151:P129L	P	+	2	0	KLK3	56053276	0.023000	0.18921	0.002000	0.10522	0.002000	0.02628	3.230000	0.51286	0.507000	0.28148	0.505000	0.49811	CCT		0.612	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		10	45	0	0	0	1	0	10	45					T	51361464	C	T	51361464	3	4	489	1	0	0	0	0	1	0	0	0	8405	681	24	3	400	3	KLK3	19	51361464	Missense_Mutation	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08	8978219	51361464	7767519	38	32605											
FPR3	2359	broad.mit.edu	37	chr19	52327505	52327505	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcttctggactacaataagTactacgaatggggacacata	15	10	8	8	1	2	0	0	0	2	0	2	3	2	2	0	3	3	1	0	3	7	6			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr19:52327505T>A	ENST00000339223.4	+	2	683	c.504T>A	c.(502-504)agT>agA	p.S168R	FPR3_ENST00000595991.1_Missense_Mutation_p.S168R	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	168					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTACAATAAGTACTACGAATG	0.453																																						ENST00000339223.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(502-504)agT>agA		formyl peptide receptor 3							165	151	156					19																	52327505		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327505T>A		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"GPCR / Class A : Formyl peptide receptors"	3828	protein-coding gene	gene with protein product		136539	"formyl peptide receptor-like 2"	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.504T>A	19.37:g.52327505T>A	ENSP00000341821:p.Ser168Arg					FPR3_ENST00000595991.1_Missense_Mutation_p.S168R	p.S168R	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN			2	683	+			168						Missense_Mutation	SNP	ENST00000339223.4	37	c.504T>A	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.682895	0.00745	.	.	ENSG00000187474	ENST00000339223	T	0.72615	-0.67	2.34	-4.67	0.03319	GPCR, rhodopsin-like superfamily (1);	3.251880	0.00899	N	0.002325	T	0.40067	0.1102	N	0.02685	-0.53	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.38457	-0.9660	10	0.14252	T	0.57	.	2.2365	0.04010	0.2674:0.1205:0.4514:0.1607	.	168	P25089	FPR3_HUMAN	R	168	ENSP00000341821:S168R	ENSP00000341821:S168R	S	+	3	2	FPR3	57019317	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.735000	0.01847	-2.736000	0.00381	-0.520000	0.04383	AGT		0.453	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		27	106	0	0	0	1	0	27	106					A	52327505	T	A	52327505	3	1	489	1	0	0	0	0	1	0	0	0	6040	1635	57	5	506	5	FPR3	19	52327505	Missense_Mutation	SNP	T	TCGA-ZG-A9LN-01A-11D-A41K-08	966041	52327505	6801478	39	32606											
CDC25B	994	broad.mit.edu	37	chr20	3782946	3782946	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagcccgcgtcctccgcTcaaaatcactgtgtcacgat	11	8	8	14	4	3	1	3	0	0	1	5	2	5	1	3	0	1	1	3	0	3	0			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr20:3782946T>A	ENST00000245960.5	+	11	1814	c.1117T>A	c.(1117-1119)Tca>Aca	p.S373T	CDC25B_ENST00000439880.2_Missense_Mutation_p.S359T|CDC25B_ENST00000344256.6_Missense_Mutation_p.S309T|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Missense_Mutation_p.S332T|CDC25B_ENST00000379598.5_Missense_Mutation_p.S282T	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	373					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						CGTCCTCCGCTCAAAATCACT	0.587																																						ENST00000245960.5																			0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(1117-1119)Tca>Aca		cell division cycle 25B							65	62	63					20																	3782946		2203	4300	6503	SO:0001583	missense	994				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	g.chr20:3782946T>A		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1117T>A	20.37:g.3782946T>A	ENSP00000245960:p.Ser373Thr					CDC25B_ENST00000344256.6_Missense_Mutation_p.S309T|CDC25B_ENST00000439880.2_Missense_Mutation_p.S359T|CDC25B_ENST00000340833.4_Missense_Mutation_p.S332T|CDC25B_ENST00000379598.5_Missense_Mutation_p.S282T|CDC25B_ENST00000467519.1_3'UTR	p.S373T	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN			11	1814	+			373					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	c.1117T>A	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.641809	0.47153	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	4.81	4.81	0.61882	.	0.308797	0.30667	N	0.009122	T	0.36608	0.0973	L	0.51422	1.61	0.80722	D	1	P;P;P;B;P;P	0.46512	0.74;0.879;0.74;0.386;0.695;0.835	P;P;P;B;P;P	0.54270	0.642;0.747;0.642;0.383;0.51;0.642	T	0.04737	-1.0930	10	0.36615	T	0.2	-28.8054	12.6655	0.56840	0.0:0.0:0.0:1.0	.	282;295;309;332;359;373	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	T	309;282;373;359;332	ENSP00000339125:S309T;ENSP00000368918:S282T;ENSP00000245960:S373T;ENSP00000405972:S359T;ENSP00000339170:S332T	ENSP00000245960:S373T	S	+	1	0	CDC25B	3730946	1.000000	0.71417	0.994000	0.49952	0.624000	0.37722	5.109000	0.64615	1.953000	0.56701	0.456000	0.33151	TCA		0.587	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		20	76	0	0	0	1	0	20	76					A	3782946	T	A	3782946	3	1	489	1	0	0	0	0	1	0	0	0	3063	1551	54	5	1159	5	CDC25B	20	3782946	Missense_Mutation	SNP	T	TCGA-ZG-A9LN-01A-11D-A41K-08		3782946	59242574	40	32607											
MMP11	4320	broad.mit.edu	37	chr22	24123200	24123200	+	Frame_Shift_Del	DEL	T	T	-																															aggggcgttcaacacctataTggccagccctggcccactgt																										TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr22:24123200delT	ENST00000215743.3	+	5	823	c.771delT	c.(769-771)tatfs	p.Y257fs		NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	257					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	AACACCTATATGGCCAGCCCT	0.622																																						ENST00000215743.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27						c.(769-771)tafs		matrix metallopeptidase 11 (stromelysin 3)							82	70	74					22																	24123200		2203	4300	6503	SO:0001589	frameshift_variant	4320				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr22:24123200delT		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"matrix metalloproteinase 11 (stromelysin 3)"	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.771delT	22.37:g.24123200delT	ENSP00000215743:p.Tyr257fs						p.Y257fs	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN			5	823	+		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)	257					Q5FX24|Q6PEZ6|Q9UC26	Frame_Shift_Del	DEL	ENST00000215743.3	37	c.771delT	CCDS13816.1																																																																																				0.622	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		12	45						12	45	---	---	---	---	-	24123200	T	-	24123200	7	5	489	1	0	1	0	1	0	0	0	0	9650	1471	51	0	789	0	MMP11	22	24123200	Frame_Shift_Del	DEL	T	TCGA-ZG-A9LN-01A-11D-A41K-08		24123200	27181366	41	32608											
GAS2L1	10633	broad.mit.edu	37	chr22	29707498	29707498	+	IGR	DEL	G	G	-																															cccgctcccgccgctactccGgggacagtgactcctcagcc																										TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr22:29707498delG	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000360113.2_Frame_Shift_Del_p.P295fs|GAS2L1_ENST00000403764.1_Frame_Shift_Del_p.G353fs|GAS2L1_ENST00000471961.1_Frame_Shift_Del_p.G353fs|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000407647.2_Frame_Shift_Del_p.G353fs|GAS2L1_ENST00000407854.1_Frame_Shift_Del_p.G353fs|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000341313.6_3'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						CCGCTACTCCGGGGACAGTGA	0.706																																						ENST00000471961.1																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1057-1059)ggfs		growth arrest-specific 2 like 1							2	2	2					22																	29707498		1470	3304	4774	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29707498delG	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29707498delG						GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000360113.2_Frame_Shift_Del_p.P295fs|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000403764.1_Frame_Shift_Del_p.G353fs|GAS2L1_ENST00000407647.2_Frame_Shift_Del_p.G353fs|GAS2L1_ENST00000407854.1_Frame_Shift_Del_p.G353fs	p.G353fs			Q99501	GA2L1_HUMAN			5	2105	+			353					Q49AU5|Q6PI03	Frame_Shift_Del	DEL	ENST00000216101.6	37	c.1057delG	CCDS13854.1																																																																																				0.706	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			2	4						2	4	---	---	---	---	-	29707498	G	-	29707498	6	5	489	0	1	1	0	1	0	0	0	0	6246	1116	39	0		0	GAS2L1	22	29707498	IGR	DEL	G	TCGA-ZG-A9LN-01A-11D-A41K-08	5584298	29707498	21597068	42	32609											
ZNF157	7712	broad.mit.edu	37	chrX	47271771	47271771	+	Missense_Mutation	SNP	C	C	T																															gtgatttatttttaaaggatCtctctcactgctgtgtggca																										TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chrX:47271771C>T	ENST00000377073.3	+	4	385	c.299C>T	c.(298-300)tCt>tTt	p.S100F		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	100					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						tttaaaggatctctctcactg	0.373																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(298-300)tCt>tTt		zinc finger protein 157							110	92	98					X																	47271771		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47271771C>T	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.299C>T	X.37:g.47271771C>T	ENSP00000366273:p.Ser100Phe						p.S100F	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	385	+			100					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.299C>T	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	8.327	0.825700	0.16749	.	.	ENSG00000147117	ENST00000377073	T	0.07216	3.21	2.75	2.75	0.32379	.	.	.	.	.	T	0.10937	0.0267	L	0.55990	1.75	0.09310	N	0.999995	P	0.50943	0.94	P	0.44860	0.462	T	0.15321	-1.0441	9	0.62326	D	0.03	.	8.2069	0.31461	0.0:1.0:0.0:0.0	.	100	P51786	ZN157_HUMAN	F	100	ENSP00000366273:S100F	ENSP00000366273:S100F	S	+	2	0	ZNF157	47156715	0.027000	0.19231	0.335000	0.25508	0.929000	0.56500	1.932000	0.40143	1.652000	0.50683	0.529000	0.55759	TCT		0.373	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		11	21	0	0	0	1	0	11	21					T	47271771	C	T	47271771	3	4	489	1	0	0	0	0	1	0	0	0	17734	913	32	3	313	3	ZNF157	23	47271771	Missense_Mutation	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08		47271771	107998789	43	32610	157	2	1	52		8	7	928	N	C	1.362085e-20
ZNF157	7712	broad.mit.edu	37	chrX	47271775	47271775	+	Silent	SNP	C	C	G																															tttatttttaaaggatctctCtcactgctgtgtggcaatgg																										TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chrX:47271775C>G	ENST00000377073.3	+	4	389	c.303C>G	c.(301-303)ctC>ctG	p.L101L		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	101					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						aaggatctctctcactgctgt	0.378																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(301-303)ctC>ctG		zinc finger protein 157							112	94	100					X																	47271775		2203	4300	6503	SO:0001819	synonymous_variant	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47271775C>G	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.303C>G	X.37:g.47271775C>G							p.L101L	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	389	+			101					Q96LE9	Silent	SNP	ENST00000377073.3	37	c.303C>G	CCDS14278.1																																																																																				0.378	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		11	22	0	0	0	1	0	11	22					G	47271775	C	G	47271775	2	3	489	1	0	0	0	0	0	0	0	1	17734	900	32	5		5	ZNF157	23	47271775	Silent	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08	4	47271775	107998785	44	32611	157	2	1	52		8	7	928	N	C	1.362085e-20
ZNF157	7712	broad.mit.edu	37	chrX	47272239	47272239	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaatgtgggaaaaccttttCtgagaaggcaaccctcacga	13	9	10	9	1	2	2	1	2	1	1	2	5	2	3	2	2	2	1	2	2	5	2			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chrX:47272239C>G	ENST00000377073.3	+	4	853	c.767C>G	c.(766-768)tCt>tGt	p.S256C		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	256					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AAAACCTTTTCTGAGAAGGCA	0.428																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(766-768)tCt>tGt		zinc finger protein 157							58	50	53					X																	47272239		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272239C>G	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.767C>G	X.37:g.47272239C>G	ENSP00000366273:p.Ser256Cys						p.S256C	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	853	+			256					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.767C>G	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607244	0.28623	.	.	ENSG00000147117	ENST00000377073	T	0.07688	3.17	3.09	1.15	0.20763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16085	0.0387	M	0.64630	1.985	0.20074	N	0.999933	D	0.71674	0.998	P	0.61800	0.894	T	0.16482	-1.0401	9	0.49607	T	0.09	.	1.2864	0.02052	0.2316:0.4102:0.2221:0.1362	.	256	P51786	ZN157_HUMAN	C	256	ENSP00000366273:S256C	ENSP00000366273:S256C	S	+	2	0	ZNF157	47157183	0.000000	0.05858	0.153000	0.22517	0.993000	0.82548	-1.860000	0.01656	0.167000	0.19631	0.600000	0.82982	TCT		0.428	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		8	25	0	0	0	1	0	8	25					G	47272239	C	G	47272239	3	3	489	1	0	0	0	0	1	0	0	0	17734	913	32	5	781	5	ZNF157	23	47272239	Missense_Mutation	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08	464	47272239	107998321	45	32612			1	52		8	7	928	N	C	1.362085e-20
ZNF157	7712	broad.mit.edu	37	chrX	47272265	47272265	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcaaccctcacgattcatCagagaactcacacaggggag	14	5	10	12	1	4	1	4	0	0	1	4	4	4	2	1	3	2	1	1	3	2	1			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chrX:47272265C>T	ENST00000377073.3	+	4	879	c.793C>T	c.(793-795)Cag>Tag	p.Q265*		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	265					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CACGATTCATCAGAGAACTCA	0.433																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(793-795)Cag>Tag		zinc finger protein 157							52	47	49					X																	47272265		2203	4300	6503	SO:0001587	stop_gained	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272265C>T	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.793C>T	X.37:g.47272265C>T	ENSP00000366273:p.Gln265*						p.Q265*	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	879	+			265					Q96LE9	Nonsense_Mutation	SNP	ENST00000377073.3	37	c.793C>T	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799818	0.70567	.	.	ENSG00000147117	ENST00000377073	.	.	.	3.0	3.0	0.34707	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	11.1858	0.48655	0.0:1.0:0.0:0.0	.	.	.	.	X	265	.	ENSP00000366273:Q265X	Q	+	1	0	ZNF157	47157209	0.000000	0.05858	0.991000	0.47740	0.831000	0.47069	0.201000	0.17276	1.766000	0.52107	0.600000	0.82982	CAG		0.433	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		7	21	0	0	0	1	0	7	21					T	47272265	C	T	47272265	4	4	489	1	0	0	0	0	0	1	0	0	17734	827	29	3	807	3	ZNF157	23	47272265	Nonsense_Mutation	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08	26	47272265	107998295	46	32613			1	52		8	7	928	N	C	1.362085e-20
ZNF157	7712	broad.mit.edu	37	chrX	47272505	47272505	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttccgaatgaagatgactCtcaataatcatcaaagaact	16	11	5	9	1	4	4	3	2	2	2	6	5	5	4	1	0	1	0	1	0	6	2			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chrX:47272505C>G	ENST00000377073.3	+	4	1119	c.1033C>G	c.(1033-1035)Ctc>Gtc	p.L345V		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	345					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GAAGATGACTCTCAATAATCA	0.423																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(1033-1035)Ctc>Gtc		zinc finger protein 157							42	38	39					X																	47272505		2203	4299	6502	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272505C>G	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1033C>G	X.37:g.47272505C>G	ENSP00000366273:p.Leu345Val						p.L345V	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	1119	+			345					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.1033C>G	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696121	0.48202	.	.	ENSG00000147117	ENST00000377073	T	0.52983	0.64	3.18	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.70219	0.3199	M	0.87758	2.905	0.24798	N	0.992711	D	0.71674	0.998	D	0.73380	0.98	T	0.60058	-0.7337	9	0.72032	D	0.01	.	11.5016	0.50441	0.0:1.0:0.0:0.0	.	345	P51786	ZN157_HUMAN	V	345	ENSP00000366273:L345V	ENSP00000366273:L345V	L	+	1	0	ZNF157	47157449	0.973000	0.33851	0.295000	0.24960	0.996000	0.88848	2.333000	0.43912	1.846000	0.53633	0.600000	0.82982	CTC		0.423	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		7	25	0	0	0	1	0	7	25					G	47272505	C	G	47272505	3	3	489	1	0	0	0	0	1	0	0	0	17734	913	32	5	1047	5	ZNF157	23	47272505	Missense_Mutation	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08	240	47272505	107998055	47	32614			1	52		8	7	928	N	C	1.362085e-20
ZNF157	7712	broad.mit.edu	37	chrX	47272569	47272569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaatgaatgtgggaaatCtttcagggtgcactcatctc	10	13	11	7	0	4	1	2	1	2	0	5	2	4	2	0	2	1	2	0	2	3	2			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chrX:47272569C>A	ENST00000377073.3	+	4	1183	c.1097C>A	c.(1096-1098)tCt>tAt	p.S366Y		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	366					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGTGGGAAATCTTTCAGGGTG	0.408																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(1096-1098)tCt>tAt		zinc finger protein 157							50	44	46					X																	47272569		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272569C>A	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1097C>A	X.37:g.47272569C>A	ENSP00000366273:p.Ser366Tyr						p.S366Y	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	1183	+			366					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.1097C>A	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924838	0.34002	.	.	ENSG00000147117	ENST00000377073	T	0.08370	3.1	3.29	2.42	0.29668	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10937	0.0267	M	0.70275	2.135	0.19775	N	0.999959	P	0.37423	0.594	B	0.38296	0.27	T	0.23904	-1.0175	9	0.66056	D	0.02	.	4.141	0.10193	0.0:0.623:0.2379:0.1392	.	366	P51786	ZN157_HUMAN	Y	366	ENSP00000366273:S366Y	ENSP00000366273:S366Y	S	+	2	0	ZNF157	47157513	0.000000	0.05858	0.127000	0.21898	0.933000	0.57130	-0.094000	0.11094	0.773000	0.33404	-0.192000	0.12808	TCT		0.408	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		14	27	1	0	2.31682e-05	1	2.43463e-05	14	27					A	47272569	C	A	47272569	3	1	489	1	0	0	0	0	1	0	0	0	17734	913	32	5	1111	5	ZNF157	23	47272569	Missense_Mutation	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08	64	47272569	107997991	48	32615			1	52		8	7	928	N	C	1.362085e-20
ZNF157	7712	broad.mit.edu	37	chrX	47272589	47272589	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttcagggtgcactcatctCttgggatccatcagagaatt	9	13	9	10	0	4	1	3	0	1	1	6	3	5	2	1	2	1	1	1	2	1	3			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chrX:47272589C>G	ENST00000377073.3	+	4	1203	c.1117C>G	c.(1117-1119)Ctt>Gtt	p.L373V		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	373					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GCACTCATCTCTTGGGATCCA	0.413																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(1117-1119)Ctt>Gtt		zinc finger protein 157							50	46	47					X																	47272589		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272589C>G	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1117C>G	X.37:g.47272589C>G	ENSP00000366273:p.Leu373Val						p.L373V	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	1203	+			373					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.1117C>G	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413737	0.42817	.	.	ENSG00000147117	ENST00000377073	T	0.12255	2.7	3.08	3.08	0.35506	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42017	0.1184	M	0.88181	2.935	0.18873	N	0.999985	D	0.71674	0.998	D	0.85130	0.997	T	0.15838	-1.0423	9	0.87932	D	0	.	11.3561	0.49617	0.0:1.0:0.0:0.0	.	373	P51786	ZN157_HUMAN	V	373	ENSP00000366273:L373V	ENSP00000366273:L373V	L	+	1	0	ZNF157	47157533	0.931000	0.31567	0.014000	0.15608	0.997000	0.91878	1.985000	0.40668	1.808000	0.52836	0.600000	0.82982	CTT		0.413	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		12	29	0	0	0	1	0	12	29					G	47272589	C	G	47272589	3	3	489	1	0	0	0	0	1	0	0	0	17734	913	32	5	1131	5	ZNF157	23	47272589	Missense_Mutation	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08	20	47272589	107997971	49	32616			1	52		8	7	928	N	C	1.362085e-20
ZNF157	7712	broad.mit.edu	37	chrX	47272698	47272698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaacatcagaggatgcattCaggagagaaaccctacgaat	16	7	10	8	1	2	3	2	1	0	2	2	7	2	5	1	2	4	1	1	2	4	2			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chrX:47272698C>T	ENST00000377073.3	+	4	1312	c.1226C>T	c.(1225-1227)tCa>tTa	p.S409L		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	409					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGGATGCATTCAGGAGAGAAA	0.413																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(1225-1227)tCa>tTa		zinc finger protein 157							66	60	62					X																	47272698		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272698C>T	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1226C>T	X.37:g.47272698C>T	ENSP00000366273:p.Ser409Leu						p.S409L	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	1312	+			409					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.1226C>T	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105027	0.77096	.	.	ENSG00000147117	ENST00000377073	T	0.18960	2.18	3.29	3.29	0.37713	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24392	0.0591	L	0.42245	1.32	0.31601	N	0.652647	P	0.47841	0.901	P	0.46917	0.531	T	0.23119	-1.0197	9	0.87932	D	0	.	11.7365	0.51767	0.0:1.0:0.0:0.0	.	409	P51786	ZN157_HUMAN	L	409	ENSP00000366273:S409L	ENSP00000366273:S409L	S	+	2	0	ZNF157	47157642	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	4.293000	0.59037	1.906000	0.55180	0.600000	0.82982	TCA		0.413	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		9	26	0	0	0	1	0	9	26					T	47272698	C	T	47272698	3	4	489	1	0	0	0	0	1	0	0	0	17734	838	29	3	1240	3	ZNF157	23	47272698	Missense_Mutation	SNP	C	TCGA-ZG-A9LN-01A-11D-A41K-08	109	47272698	107997862	50	32617			1	52		8	7	928	N	C	1.362085e-20
PRAMEF10	343071	broad.mit.edu	37	chr1	12954463	12954463	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatattactgatcttttttaTataaagcatctgggggtagt	11	17	9	4	0	2	1	0	1	2	0	2	2	2	1	0	2	2	2	0	2	7	8			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr1:12954463T>G	ENST00000235347.4	-	3	899	c.820A>C	c.(820-822)Ata>Cta	p.I274L		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTTTTTTATATAAAGCATC	0.468																																						ENST00000235347.4																			0				NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(820-822)Ata>Cta		PRAME family member 10							88	55	64					1																	12954463		1137	2907	4044	SO:0001583	missense	343071							g.chr1:12954463T>G	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"-"	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.820A>C	1.37:g.12954463T>G	ENSP00000235347:p.Ile274Leu						p.I274L	NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN		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)	3	899	-	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)	274					Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	c.820A>C	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.553363	0.00918	.	.	ENSG00000187545	ENST00000235347	T	0.00575	6.46	1.57	-1.93	0.07594	.	0.921830	0.09092	N	0.849765	T	0.00356	0.0011	N	0.21617	0.685	0.09310	N	1	P	0.44281	0.831	B	0.38880	0.284	T	0.34153	-0.9840	10	0.02654	T	1	.	4.2185	0.10545	0.5544:0.0:0.0:0.4455	.	274	O60809	PRA10_HUMAN	L	274	ENSP00000235347:I274L	ENSP00000235347:I274L	I	-	1	0	PRAMEF10	12877050	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.686000	0.05161	-0.453000	0.07076	0.163000	0.16589	ATA		0.468	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		30	71	0	0	0	1	0	30	71					G	12954463	T	G	12954463	3	3	490	1	0	0	0	0	1	0	0	0	12426	1406	49	5	612	5	PRAMEF10	1	12954463	Missense_Mutation	SNP	T	TCGA-ZG-A9LS-01A-12D-A41K-08		12954463	236296158	1	32618											
MCOLN3	55283	broad.mit.edu	37	chr1	85491926	85491934	+	In_Frame_Del	DEL	CAAAGGCAT	CAAAGGCAT	-																															aaccaagcaagtcagaatgaCaaaggcatcaaagatcatca																								rs147897040		TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr1:85491926_85491934delCAAAGGCAT	ENST00000370589.2	-	8	918_926	c.866_874delATGCCTTTG	c.(865-876)gatgcctttgtc>gtc	p.DAF289del	MCOLN3_ENST00000474447.1_5'Flank|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_In_Frame_Del_p.DAF289del|MCOLN3_ENST00000341115.4_In_Frame_Del_p.DAF233del	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	289					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GTCAGAATGACAAAGGCATCAAAGATCAT	0.383																																						ENST00000370587.1																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(865-876)gtc>g		mucolipin 3																																				SO:0001651	inframe_deletion	55283					integral to membrane	ion channel activity	g.chr1:85491926_85491934delCAAAGGCAT	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"Voltage-gated ion channels / Transient receptor potential cation channels"	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.866_874delATGCCTTTG	1.37:g.85491926_85491934delCAAAGGCAT	ENSP00000359621:p.Asp289_Phe291del					WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_In_Frame_Del_p.DAFV233del|MCOLN3_ENST00000370589.2_In_Frame_Del_p.DAFV289del	p.DAFV289del			Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	9	1242_1250	-			289					Q5T4H5|Q5T4H6|Q9NV09	In_Frame_Del	DEL	ENST00000370589.2	37	c.866_874delATGCCTTTG	CCDS701.1																																																																																				0.383	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		15	148						15	148	---	---	---	---	-	85491934	CAAAGGCAT	-	85491926	7	5	490	1	0	1	0	1	0	0	0	0	9397	478	17	0	811	0	MCOLN3	1	85491926	In_Frame_Del	DEL	CAAAGGCAT	TCGA-ZG-A9LS-01A-12D-A41K-08	72537463	85491926	163758695	2	32619											
OR2M7	391196	broad.mit.edu	37	chr1	248487559	248487559	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcggagccaagcaatgatatAtagaagaaaatttgtgtggc	15	10	11	5	1	0	3	0	1	0	2	1	4	0	4	1	2	2	1	1	2	8	4			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr1:248487559A>G	ENST00000317965.2	-	1	340	c.312T>C	c.(310-312)taT>taC	p.Y104Y		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAATGATATATAGAAGAAAA	0.458																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(310-312)taT>taC		olfactory receptor, family 2, subfamily M, member 7							188	197	194					1																	248487559		2203	4300	6503	SO:0001819	synonymous_variant	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487559A>G	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"GPCR / Class A : Olfactory receptors"	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.312T>C	1.37:g.248487559A>G							p.Y104Y	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	340	-	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)		104					B2RNL0|Q6IEX6	Silent	SNP	ENST00000317965.2	37	c.312T>C	CCDS31111.1																																																																																				0.458	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		5	203	0	0	0	1	0	5	203					G	248487559	A	G	248487559	2	3	490	1	0	0	0	0	0	0	0	1	11014	456	16	4		4	OR2M7	1	248487559	Silent	SNP	A	TCGA-ZG-A9LS-01A-12D-A41K-08	162995633	248487559	763062	3	32620											
SSB	6741	broad.mit.edu	37	chr2	170657516	170657516	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggctgccctggaggccAaaatctgtcatcaaattgag	12	9	11	9	0	3	2	2	1	1	1	3	3	3	3	2	3	1	1	2	3	3	1			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr2:170657516A>C	ENST00000409333.1	+	2	293	c.46A>C	c.(46-48)Aaa>Caa	p.K16Q	SSB_ENST00000260956.4_Missense_Mutation_p.K16Q			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	16	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCTGGAGGCCAAAATCTGTCA	0.333																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(46-48)Aaa>Caa		Sjogren syndrome antigen B (autoantigen La)							78	86	83					2																	170657516		2203	4300	6503	SO:0001583	missense	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170657516A>C		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	11316	protein-coding gene	gene with protein product	"La ribonucleoprotein domain family, member 3"	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.46A>C	2.37:g.170657516A>C	ENSP00000386636:p.Lys16Gln					SSB_ENST00000260956.4_Missense_Mutation_p.K16Q	p.K16Q			P05455	LA_HUMAN			2	293	+			16			HTH La-type RNA-binding.		Q15367|Q53XJ4	Missense_Mutation	SNP	ENST00000409333.1	37	c.46A>C	CCDS2237.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.788583	0.70337	.	.	ENSG00000138385	ENST00000422006;ENST00000260956;ENST00000409005;ENST00000409333	T;T;T	0.45276	0.9;0.9;0.9	5.32	5.32	0.75619	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (2);	0.000000	0.85682	D	0.000000	T	0.44008	0.1273	L	0.61036	1.89	0.80722	D	1	P;P	0.51933	0.949;0.674	B;B	0.41917	0.37;0.338	T	0.51164	-0.8740	10	0.59425	D	0.04	-29.5104	15.5911	0.76530	1.0:0.0:0.0:0.0	.	16;16	E9PFH8;P05455	.;LA_HUMAN	Q	16	ENSP00000397029:K16Q;ENSP00000260956:K16Q;ENSP00000386636:K16Q	ENSP00000260956:K16Q	K	+	1	0	SSB	170365762	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.727000	0.74764	2.140000	0.66376	0.460000	0.39030	AAA		0.333	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		3	62	0	0	0	1	0	3	62					C	170657516	A	C	170657516	3	2	490	1	0	0	0	0	1	0	0	0	15177	131	5	5	48	5	SSB	2	170657516	Missense_Mutation	SNP	A	TCGA-ZG-A9LS-01A-12D-A41K-08		170657516	72541857	4	32621											
IQCF2	389123	broad.mit.edu	37	chr3	51897199	51897199	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaccagagagagggcagTgatcaagctccagtctttgg	11	7	13	10	1	2	3	1	1	1	2	3	4	3	3	2	2	2	3	2	2	2	1			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr3:51897199T>C	ENST00000333127.3	+	3	337	c.308T>C	c.(307-309)gTg>gCg	p.V103A	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	103	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.									endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGAGGGCAGTGATCAAGCTC	0.582																																						ENST00000333127.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(307-309)gTg>gCg		IQ motif containing F2							132	128	129					3																	51897199		2203	4300	6503	SO:0001583	missense	389123							g.chr3:51897199T>C	AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.308T>C	3.37:g.51897199T>C	ENSP00000329904:p.Val103Ala					IQCF2_ENST00000429548.1_3'UTR	p.V103A	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	337	+			103			IQ 2.			Missense_Mutation	SNP	ENST00000333127.3	37	c.308T>C	CCDS2835.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.424931	0.43020	.	.	ENSG00000184345	ENST00000333127	T	0.13538	2.58	4.95	4.95	0.65309	.	0.000000	0.49305	D	0.000146	T	0.16385	0.0394	N	0.21194	0.64	0.26376	N	0.976808	D	0.57257	0.979	D	0.64410	0.925	T	0.07121	-1.0789	10	0.02654	T	1	-24.183	11.1833	0.48642	0.0:0.0:0.0:1.0	.	103	Q8IXL9	IQCF2_HUMAN	A	103	ENSP00000329904:V103A	ENSP00000329904:V103A	V	+	2	0	IQCF2	51872239	0.970000	0.33590	0.977000	0.42913	0.970000	0.65996	1.316000	0.33620	2.198000	0.70561	0.459000	0.35465	GTG		0.582	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424		20	61	0	0	0	1	0	20	61					C	51897199	T	C	51897199	3	2	490	1	0	0	0	0	1	0	0	0	7808	1696	59	4	318	4	IQCF2	3	51897199	Missense_Mutation	SNP	T	TCGA-ZG-A9LS-01A-12D-A41K-08		51897199	146125231	5	32622											
EBLN2	55096	broad.mit.edu	37	chr3	73111481	73111482	+	Frame_Shift_Ins	INS	-	-	A																															ttgagctatctgggaaaaacINSagacagtatccactggatgc																								rs3832186|rs201649088	byFrequency	TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr3:73111481_73111482insA	ENST00000533473.1	+	1	672_673	c.249_250insA	c.(250-252)agafs	p.R84fs	PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	84										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						CTGGGAAAAACAGACAGTATCC	0.48													A|A|AA|insertion	1036	0.206869	0.1165	0.0908	5008	,	,		18256	0.3542		0.1203	False		,,,				2504	0.3487					ENST00000533473.1																			0				endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						c.(247-252)aagacafs		endogenous Bornavirus-like nucleoprotein 2			,	400,3336		31,338,1499					,	0.5	0		dbSNP_107	34	874,7042		44,786,3128	no	intron,frameshift	EBLN2,PPP4R2	NM_174907.2,NM_018029.3	,	75,1124,4627	A1A1,A1R,RR		11.0409,10.7066,10.9337	,	,		1274,10378				SO:0001589	frameshift_variant	55096						protein binding	g.chr3:73111481_73111482insA		CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"endogenous Borna-like N element 2"	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.250dupA	3.37:g.73111482_73111482dupA	ENSP00000432104:p.Arg84fs					PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron	p.T84fs	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN			1	672_673	+			84					Q8WWH3|Q9NW89	Frame_Shift_Ins	INS	ENST00000533473.1	37	c.249_250insA	CCDS54608.1																																																																																				0.48	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1	NM_018029		6	12						6	12	---	---	---	---	A	73111482	-	A	73111481	7	5	490	1	0	1	1	0	0	0	0	0	4884	477	17	0	251	0	EBLN2	3	73111481	Frame_Shift_Ins	INS	-	TCGA-ZG-A9LS-01A-12D-A41K-08	21214282	73111481	124910949	6	32623											
UROC1	131669	broad.mit.edu	37	chr3	126208213	126208213	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctcggctcaggaccacCggcgcctgtgcatggaagga	8	7	14	12	3	2	1	1	1	1	0	3	4	2	4	3	5	1	2	3	5	1	0			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr3:126208213C>T	ENST00000290868.2	-	17	1667	c.1614G>A	c.(1612-1614)ccG>ccA	p.P538P	UROC1_ENST00000383579.3_Silent_p.P598P	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	538					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TCAGGACCACCGGCGCCTGTG	0.597																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1612-1614)ccG>ccA		urocanate hydratase 1							105	93	97					3																	126208213		2203	4300	6503	SO:0001819	synonymous_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126208213C>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1614G>A	3.37:g.126208213C>T						UROC1_ENST00000383579.3_Silent_p.P598P	p.P538P	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	17	1667	-			538					E9PE13|Q14C64|Q68CJ7	Silent	SNP	ENST00000290868.2	37	c.1614G>A	CCDS3038.1																																																																																				0.597	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		15	51	0	0	0	1	0	15	51					T	126208213	C	T	126208213	2	4	490	1	0	0	0	0	0	0	0	1	17025	639	23	2		2	UROC1	3	126208213	Silent	SNP	C	TCGA-ZG-A9LS-01A-12D-A41K-08	53096732	126208213	71814217	7	32624											
FGG	2266	broad.mit.edu	37	chr4	155528019	155528019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaacttgtcactaggatcatCgccaaaatcaaagccatcaa	17	8	5	11	1	4	0	4	0	0	0	5	1	4	1	2	1	2	0	2	1	6	2			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr4:155528019C>T	ENST00000336098.3	-	8	1005	c.967G>A	c.(967-969)Gat>Aat	p.D323N	FGG_ENST00000407946.1_Missense_Mutation_p.D331N|FGG_ENST00000404648.3_Missense_Mutation_p.D323N|FGG_ENST00000405164.1_Missense_Mutation_p.D331N	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	323	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTAGGATCATCGCCAAAATCA	0.468																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(967-969)Gat>Aat		fibrinogen gamma chain	Sucralfate(DB00364)						245	216	226					4																	155528019		2203	4300	6503	SO:0001583	missense	2266				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	g.chr4:155528019C>T		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.967G>A	4.37:g.155528019C>T	ENSP00000336829:p.Asp323Asn					FGG_ENST00000407946.1_Missense_Mutation_p.D331N|FGG_ENST00000336098.3_Missense_Mutation_p.D323N|FGG_ENST00000405164.1_Missense_Mutation_p.D331N	p.D323N	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			8	1206	-	all_hematologic(180;0.215)	Renal(120;0.0458)	323			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.967G>A	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075013	0.76415	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38	5.79	5.79	0.91817	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.135793	0.64402	D	0.000003	D	0.98469	0.9490	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.76071	0.967;0.987;0.987;0.987;0.978	D	0.98387	1.0561	10	0.46703	T	0.11	.	20.0275	0.97527	0.0:1.0:0.0:0.0	.	220;331;323;331;323	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	N	323;331;323;331	ENSP00000384860:D323N;ENSP00000384101:D331N;ENSP00000336829:D323N;ENSP00000384552:D331N	ENSP00000336829:D323N	D	-	1	0	FGG	155747469	1.000000	0.71417	0.984000	0.44739	0.495000	0.33615	4.731000	0.62022	2.727000	0.93392	0.650000	0.86243	GAT		0.468	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		16	82	0	0	0	1	0	16	82					T	155528019	C	T	155528019	3	4	490	1	0	0	0	0	1	0	0	0	5870	884	31	2	421	2	FGG	4	155528019	Missense_Mutation	SNP	C	TCGA-ZG-A9LS-01A-12D-A41K-08		155528019	35626257	8	32625											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769422	140769422	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactctcggccactgccacGttgcacctggtcttcgccga	5	9	9	18	4	2	0	0	0	2	0	4	1	2	0	5	2	2	2	5	2	0	2			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr5:140769422G>A	ENST00000519479.1	+	1	1971	c.1971G>A	c.(1969-1971)acG>acA	p.T657T	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_5'Flank	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	657	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTGCCACGTTGCACCTGG	0.662																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(1969-1971)acG>acA									77	83	81					5																	140769422		2153	4250	6403	SO:0001819	synonymous_variant	0							g.chr5:140769422G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1971G>A	5.37:g.140769422G>A						PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.T657T	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1971	+								O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.1971G>A	CCDS54928.1																																																																																				0.662	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		15	52	0	0	0	1	0	15	52					A	140769422	G	A	140769422	2	1	490	1	0	0	0	0	0	0	0	1	11565	1132	40	1		1	PCDHGB4	5	140769422	Silent	SNP	G	TCGA-ZG-A9LS-01A-12D-A41K-08		140769422	40145838	9	32626											
DOCK2	1794	broad.mit.edu	37	chr5	169454921	169454921	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtagaagggggccgaggcGacgagcagtacatgcagctc	11	4	17	9	3	0	1	0	0	0	1	1	4	0	1	1	4	4	5	1	4	3	2			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr5:169454921G>T	ENST00000256935.8	+	34	3516	c.3436G>T	c.(3436-3438)Gac>Tac	p.D1146Y	DOCK2_ENST00000520908.1_Missense_Mutation_p.D638Y|DOCK2_ENST00000523351.1_3'UTR|MIR378E_ENST00000581976.1_RNA|DOCK2_ENST00000540750.1_Missense_Mutation_p.D207Y	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1146	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCCGAGGCGACGAGCAGTA	0.512																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(3436-3438)Gac>Tac		dedicator of cytokinesis 2							117	106	109					5																	169454921		2203	4300	6503	SO:0001583	missense	1794				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	g.chr5:169454921G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3436G>T	5.37:g.169454921G>T	ENSP00000256935:p.Asp1146Tyr					DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.D638Y|DOCK2_ENST00000540750.1_Missense_Mutation_p.D207Y	p.D1146Y	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		34	3516	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1146			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.3436G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444885	0.83993	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.59772	0.24;0.24;0.24	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.82912	0.5140	M	0.93283	3.4	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.87641	0.2522	10	0.87932	D	0	.	18.8352	0.92159	0.0:0.0:1.0:0.0	.	638;1146	E7ERW7;Q92608	.;DOCK2_HUMAN	Y	1146;638;207	ENSP00000256935:D1146Y;ENSP00000429283:D638Y;ENSP00000438827:D207Y	ENSP00000256935:D1146Y	D	+	1	0	DOCK2	169387499	1.000000	0.71417	0.194000	0.23346	0.656000	0.38851	9.438000	0.97539	2.455000	0.83008	0.555000	0.69702	GAC		0.512	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		8	57	1	0	5.18039e-06	1	5.40563e-06	8	57					T	169454921	G	T	169454921	3	4	490	1	0	0	0	0	1	0	0	0	4687	1058	37	5	3570	5	DOCK2	5	169454921	Missense_Mutation	SNP	G	TCGA-ZG-A9LS-01A-12D-A41K-08	28685499	169454921	11460339	10	32627											
PTK7	5754	broad.mit.edu	37	chr6	43096847	43096847	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgctcgatggggcccCtgtccaggacacggagcggc	5	6	16	14	3	0	0	0	0	0	0	2	3	1	2	3	6	2	2	3	6	0	0			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr6:43096847C>G	ENST00000230419.4	+	2	433	c.212C>G	c.(211-213)cCt>cGt	p.P71R	PTK7_ENST00000471863.1_Missense_Mutation_p.P71R|PTK7_ENST00000352931.2_Missense_Mutation_p.P71R|PTK7_ENST00000481273.1_Missense_Mutation_p.P79R|PTK7_ENST00000345201.2_Missense_Mutation_p.P71R|PTK7_ENST00000349241.2_Missense_Mutation_p.P71R|PTK7_ENST00000476760.1_Missense_Mutation_p.P71R	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	71	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			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)			GATGGGGCCCCTGTCCAGGAC	0.682																																						ENST00000230419.4																			0				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						c.(211-213)cCt>cGt		protein tyrosine kinase 7							31	33	32					6																	43096847		2203	4300	6503	SO:0001583	missense	0				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	g.chr6:43096847C>G	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.212C>G	6.37:g.43096847C>G	ENSP00000230419:p.Pro71Arg					PTK7_ENST00000471863.1_Missense_Mutation_p.P71R|PTK7_ENST00000476760.1_Missense_Mutation_p.P71R|PTK7_ENST00000352931.2_Missense_Mutation_p.P71R|PTK7_ENST00000481273.1_Missense_Mutation_p.P79R|PTK7_ENST00000345201.2_Missense_Mutation_p.P71R|PTK7_ENST00000349241.2_Missense_Mutation_p.P71R	p.P71R	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		2	433	+			71			Ig-like C2-type 1.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.212C>G	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380629	0.24944	.	.	ENSG00000112655	ENST00000230419;ENST00000476760;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972	T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	4.84	4.84	0.62591	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.110120	0.64402	D	0.000007	T	0.63319	0.2501	L	0.52206	1.635	0.53688	D	0.999976	B;B;P;B;P;B	0.41848	0.055;0.108;0.579;0.178;0.763;0.382	B;B;B;B;P;B	0.48571	0.082;0.099;0.379;0.188;0.582;0.306	T	0.67138	-0.5746	10	0.51188	T	0.08	.	17.9521	0.89057	0.0:1.0:0.0:0.0	.	79;71;71;71;71;71	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	R	71;71;71;71;71;71;79;79	ENSP00000230419:P71R;ENSP00000417607:P71R;ENSP00000419037:P71R;ENSP00000325462:P71R;ENSP00000326029:P71R;ENSP00000325992:P71R;ENSP00000418754:P79R	ENSP00000230418:P71R	P	+	2	0	PTK7	43204825	0.964000	0.33143	0.794000	0.32065	0.116000	0.19942	2.777000	0.47717	2.234000	0.73211	0.462000	0.41574	CCT		0.682	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			4	22	0	0	0	1	0	4	22					G	43096847	C	G	43096847	3	3	490	1	0	0	0	0	1	0	0	0	12765	681	24	5	218	5	PTK7	6	43096847	Missense_Mutation	SNP	C	TCGA-ZG-A9LS-01A-12D-A41K-08		43096847	128018220	11	32628											
DST	667	broad.mit.edu	37	chr6	56480467	56480467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcatattatatttctgaCatatgacttttgatctttga	11	18	7	5	0	2	4	0	4	2	0	2	4	2	4	0	1	0	1	0	1	4	8			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr6:56480467C>T	ENST00000370765.6	-	24	7905	c.7798G>A	c.(7798-7800)Gtc>Atc	p.V2600I	DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1896					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			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)			ATATTTCTGACATATGACTTT	0.363																																						ENST00000370765.6																			0				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						c.(7798-7800)Gtc>Atc		dystonin							125	127	126					6																	56480467		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56480467C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.7798G>A	6.37:g.56480467C>T	ENSP00000359801:p.Val2600Ile					DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron	p.V2600I	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		24	7905	-	Lung NSC(77;0.103)		1896					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.7798G>A	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.624844	0.00007	.	.	ENSG00000151914	ENST00000370765	T	0.66995	-0.24	5.61	1.85	0.25348	.	.	.	.	.	T	0.17023	0.0409	.	.	.	0.09310	N	1.0	B	0.06786	0.001	B	0.04013	0.001	T	0.12993	-1.0526	7	0.02654	T	1	.	8.8376	0.35121	0.0:0.5966:0.0995:0.3039	.	2600	Q03001-3	.	I	2600	ENSP00000359801:V2600I	ENSP00000359801:V2600I	V	-	1	0	DST	56588426	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-0.879000	0.04188	0.068000	0.16574	-1.151000	0.01829	GTC		0.363	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		18	78	0	0	0	1	0	18	78					T	56480467	C	T	56480467	3	4	490	1	0	0	0	0	1	0	0	0	4783	478	17	3	12601	3	DST	6	56480467	Missense_Mutation	SNP	C	TCGA-ZG-A9LS-01A-12D-A41K-08	13383620	56480467	114634600	12	32629											
PPIA	5478	broad.mit.edu	37	chr7	44839402	44839402	+	Frame_Shift_Del	DEL	C	C	-																															aagcatacgggtcctggcatCttgtccatggcaaatgctgg																										TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr7:44839402delC	ENST00000468812.1	+	4	336	c.291delC	c.(289-291)atcfs	p.I97fs	PPIA_ENST00000355968.6_Frame_Shift_Del_p.I37fs|PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000451562.1_Frame_Shift_Del_p.I97fs|PPIA_ENST00000489459.1_Frame_Shift_Del_p.I37fs	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	97	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				blood coagulation (GO:0007596)|entry into host cell (GO:0030260)|establishment of integrated proviral latency (GO:0075713)|leukocyte migration (GO:0050900)|lipid particle organization (GO:0034389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of viral genome replication (GO:0045069)|RNA-dependent DNA replication (GO:0006278)|uncoating of virus (GO:0019061)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral release from host cell (GO:0019076)|virion assembly (GO:0019068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	GTCCTGGCATCTTGTCCATGG	0.483																																					Pancreas(95;605 727 734 1731 12572 23104 24406 38694 39103 44805)	ENST00000468812.1																			0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(289-291)atfs		peptidylprolyl isomerase A (cyclophilin A)	Cyclosporine(DB00091)|L-Proline(DB00172)						81	78	79					7																	44839402		2203	4296	6499	SO:0001589	frameshift_variant	5478				entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|RNA-dependent DNA replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding	g.chr7:44839402delC	X52851	CCDS5494.1, CCDS75592.1	7p13	2010-03-23			ENSG00000196262	ENSG00000196262	5.2.1.8		9253	protein-coding gene	gene with protein product		123840				1989998, 2197089	Standard	XM_005249791		Approved	CYPA	uc003tlw.3	P62937	OTTHUMG00000023687	ENST00000468812.1:c.291delC	7.37:g.44839402delC	ENSP00000419425:p.Ile97fs					PPIA_ENST00000489459.1_Frame_Shift_Del_p.I37fs|PPIA_ENST00000355968.6_Frame_Shift_Del_p.I37fs|PPIA_ENST00000451562.1_Frame_Shift_Del_p.I97fs|PPIA_ENST00000480603.1_3'UTR	p.I97fs	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN			4	336	+			97			PPIase cyclophilin-type.		A8K220|P05092|Q3KQW3|Q567Q0|Q6IBU5|Q96IX3|Q9BRU4|Q9BTY9|Q9UC61	Frame_Shift_Del	DEL	ENST00000468812.1	37	c.291delC	CCDS5494.1																																																																																				0.483	PPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251293.1	NM_021130		18	59						18	59	---	---	---	---	-	44839402	C	-	44839402	7	5	490	1	0	1	0	1	0	0	0	0	12316	903	32	0	305	0	PPIA	7	44839402	Frame_Shift_Del	DEL	C	TCGA-ZG-A9LS-01A-12D-A41K-08		44839402	114299261	13	32630											
CALCR	799	broad.mit.edu	37	chr7	93055795	93055795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgggatgtcgccagcctccGcagcagcggctgcagcgcga	6	6	15	14	5	0	0	0	0	0	0	2	2	1	1	3	2	5	4	3	2	0	1			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr7:93055795G>A	ENST00000394441.1	-	13	1613	c.1298C>T	c.(1297-1299)gCg>gTg	p.A433V	CALCR_ENST00000359558.2_Missense_Mutation_p.A467V|CALCR_ENST00000426151.1_Missense_Mutation_p.A433V|CALCR_ENST00000421592.1_Missense_Mutation_p.A449V|CALCR_ENST00000360249.4_Missense_Mutation_p.A449V	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	467					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GCCAGCCTCCGCAGCAGCGGC	0.582																																						ENST00000359558.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(1399-1401)gCg>gTg		calcitonin receptor	Salmon Calcitonin(DB00017)						90	93	92					7																	93055795		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93055795G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1298C>T	7.37:g.93055795G>A	ENSP00000377959:p.Ala433Val					CALCR_ENST00000394441.1_Missense_Mutation_p.A433V|CALCR_ENST00000426151.1_Missense_Mutation_p.A433V|CALCR_ENST00000421592.1_Missense_Mutation_p.A449V|CALCR_ENST00000360249.4_Missense_Mutation_p.A449V	p.A467V	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		16	1699	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		449					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.1400C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323108	0.41096	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.51325	0.71;0.73;0.73;0.84;0.84	5.11	4.23	0.50019	.	.	.	.	.	T	0.41236	0.1150	L	0.28556	0.865	0.09310	N	1	D;P	0.61697	0.99;0.923	P;B	0.50405	0.64;0.122	T	0.11591	-1.0581	9	0.16896	T	0.51	.	9.7264	0.40335	0.0935:0.0:0.9065:0.0	.	467;433	F5H605;A4D1G6	.;.	V	467;449;449;433;433	ENSP00000352561:A467V;ENSP00000353385:A449V;ENSP00000399552:A449V;ENSP00000377959:A433V;ENSP00000389295:A433V	ENSP00000352561:A467V	A	-	2	0	CALCR	92893731	0.861000	0.29849	0.034000	0.17996	0.005000	0.04900	1.745000	0.38278	1.537000	0.49254	-0.145000	0.13849	GCG		0.582	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		30	99	0	0	0	1	0	30	99					A	93055795	G	A	93055795	3	1	490	1	0	0	0	0	1	0	0	0	2579	1087	38	1	130	1	CALCR	7	93055795	Missense_Mutation	SNP	G	TCGA-ZG-A9LS-01A-12D-A41K-08	48216393	93055795	66082868	14	32631											
CTTNBP2	83992	broad.mit.edu	37	chr7	117364661	117364661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagcggccagacttcctgcGaggactggtgttcacctttc	7	10	12	12	2	1	1	1	0	0	1	3	4	2	2	3	3	2	1	3	3	1	3			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr7:117364661G>A	ENST00000160373.3	-	19	4478	c.4387C>T	c.(4387-4389)Cgc>Tgc	p.R1463C		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1463					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GACTTCCTGCGAGGACTGGTG	0.502																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(4387-4389)Cgc>Tgc		cortactin binding protein 2							123	99	107					7																	117364661		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117364661G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4387C>T	7.37:g.117364661G>A	ENSP00000160373:p.Arg1463Cys						p.R1463C	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	19	4478	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1463					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.4387C>T	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.474272|4.474272	0.84640|0.84640	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.72051|.	-0.62|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.102610|.	0.64402|.	D|.	0.000002|.	T|T	0.82093|0.82093	0.4962|0.4962	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.78314|.	0.991|.	T|T	0.83253|0.83253	-0.0052|-0.0052	10|5	0.87932|.	D|.	0|.	-21.721|-21.721	18.7795|18.7795	0.91926|0.91926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1463|.	Q8WZ74|.	CTTB2_HUMAN|.	C|L	1463|950	ENSP00000160373:R1463C|.	ENSP00000160373:R1463C|.	R|S	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117151897|117151897	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.883000|0.883000	0.51084|0.51084	7.754000|7.754000	0.85163|0.85163	2.600000|2.600000	0.87896|0.87896	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.502	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		8	39	0	0	0	1	0	8	39					A	117364661	G	A	117364661	3	1	490	1	0	0	0	0	1	0	0	0	4045	1058	37	2	624	2	CTTNBP2	7	117364661	Missense_Mutation	SNP	G	TCGA-ZG-A9LS-01A-12D-A41K-08	24308866	117364661	41774002	15	32632											
CTNNAL1	8727	broad.mit.edu	37	chr9	111746717	111746717	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttcatctttcaaatcCtaaatatgaaataaaatcac	16	16	1	8	0	5	1	3	1	2	0	6	1	6	1	1	0	0	0	1	0	7	7			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr9:111746717C>G	ENST00000325551.4	-	5	726		c.e5-1		CTNNAL1_ENST00000325580.6_Splice_Site|CTNNAL1_ENST00000374595.4_Splice_Site	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1						cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CTTTCAAATCCTAAATATGAA	0.338																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.e5-1		catenin (cadherin-associated protein), alpha-like 1							111	107	108					9																	111746717		2203	4300	6503	SO:0001630	splice_region_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111746717C>G	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.640-1G>C	9.37:g.111746717C>G						CTNNAL1_ENST00000325580.6_Splice_Site|CTNNAL1_ENST00000325551.4_Splice_Site				Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	5	719	-								B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Splice_Site	SNP	ENST00000325551.4	37		CCDS6775.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609466	0.87258	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5058	0.87745	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTNNAL1	110786538	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	7.754000	0.85163	2.731000	0.93534	0.655000	0.94253	.		0.338	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798	Intron	9	41	0	0	0	1	0	9	41					G	111746717	C	G	111746717	5	3	490	1	0	0	0	0	0	0	1	0	4015	695	24	5	1625	5	CTNNAL1	9	111746717	Splice_Site	SNP	C	TCGA-ZG-A9LS-01A-12D-A41K-08		111746717	29466714	16	32633											
MAMDC4	29085	broad.mit.edu	37	chr9	139748448	139748448	+	IGR	SNP	C	C	T																															agcctgttctcttcaggtgaCcttctctgccacccgaaatg																										TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr9:139748448C>T	ENST00000247665.10	+	0	890				MAMDC4_ENST00000445819.1_Missense_Mutation_p.T197I|MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.T197I	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	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)		CTTCAGGTGACCTTCTCTGCC	0.607																																						ENST00000445819.1																			0				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						c.(589-591)aCc>aTc		MAM domain containing 4							107	102	103					9																	139748448		2203	4300	6503	SO:0001628	intergenic_variant	158056				protein transport	integral to membrane		g.chr9:139748448C>T	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"phosphohistidine phosphatase 14kDa", " sex-regulated protein janus-a"	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950		9.37:g.139748448C>T						MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.T197I	p.T197I			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	6	640	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	197			MAM 1.		B1AMX0|B1AMX1|Q9H0Y3	Missense_Mutation	SNP	ENST00000247665.10	37	c.590C>T	CCDS7009.1	.	.	.	.	.	.	.	.	.	.	.	15.53	2.861027	0.51482	.	.	ENSG00000177943	ENST00000317446;ENST00000445819	T;T	0.01854	4.6;4.6	4.25	4.25	0.50352	.	0.104649	0.42172	D	0.000747	T	0.01421	0.0046	N	0.11255	0.115	0.45867	D	0.998728	B	0.32573	0.376	B	0.38755	0.281	T	0.54761	-0.8245	10	0.06494	T	0.89	-34.2112	6.3561	0.21402	0.0:0.7976:0.0:0.2024	.	197	Q6UXC1-2	.	I	197	ENSP00000319388:T197I;ENSP00000411339:T197I	ENSP00000319388:T197I	T	+	2	0	MAMDC4	138868269	0.005000	0.15991	1.000000	0.80357	0.987000	0.75469	0.438000	0.21559	2.207000	0.71202	0.561000	0.74099	ACC		0.607	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		17	124	0	0	0	1	0	17	124					T	139748448	C	T	139748448	1	4	490	0	1	0	0	0	0	0	0	0	9204	507	18	3		3	MAMDC4	9	139748448	IGR	SNP	C	TCGA-ZG-A9LS-01A-12D-A41K-08	28001731	139748448	1464983	17	32634	158	2									
MAMDC4	29085	broad.mit.edu	37	chr9	139748449	139748449	+	IGR	SNP	C	C	T																															gcctgttctcttcaggtgacCttctctgccacccgaaatgc																										TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr9:139748449C>T	ENST00000247665.10	+	0	890				MAMDC4_ENST00000445819.1_Silent_p.T197T|MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.T197T	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	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)		TTCAGGTGACCTTCTCTGCCA	0.607																																						ENST00000445819.1																			0				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						c.(589-591)acC>acT		MAM domain containing 4							107	102	103					9																	139748449		2203	4300	6503	SO:0001628	intergenic_variant	158056				protein transport	integral to membrane		g.chr9:139748449C>T	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"phosphohistidine phosphatase 14kDa", " sex-regulated protein janus-a"	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950		9.37:g.139748449C>T						MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.T197T	p.T197T			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	6	641	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	197			MAM 1.		B1AMX0|B1AMX1|Q9H0Y3	Silent	SNP	ENST00000247665.10	37	c.591C>T	CCDS7009.1	.	.	.	.	.	.	.	.	.	.	.	10.41	1.341625	0.24339	.	.	ENSG00000177943	ENST00000413647	.	.	.	4.25	1.18	0.20946	.	.	.	.	.	T	0.46034	0.1372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27938	-1.0059	4	.	.	.	-34.2112	4.0265	0.09690	0.1736:0.5482:0.0:0.2781	.	.	.	.	F	179	.	.	L	+	1	0	MAMDC4	138868270	0.002000	0.14202	1.000000	0.80357	0.990000	0.78478	0.207000	0.17395	0.398000	0.25338	0.561000	0.74099	CTT		0.607	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		17	124	0	0	0	1	0	17	124					T	139748449	C	T	139748449	1	4	490	0	1	0	0	0	0	0	0	0	9204	668	24	3		3	MAMDC4	9	139748449	IGR	SNP	C	TCGA-ZG-A9LS-01A-12D-A41K-08	1	139748449	1464982	18	32635	158	2									
KIAA1462	57608	broad.mit.edu	37	chr10	30315419	30315419	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacttggggttctttctaCaaaatggaataaagtggacc	13	11	9	8	0	2	0	0	0	2	0	2	2	2	2	1	4	1	1	1	4	6	5			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr10:30315419C>G	ENST00000375377.1	-	3	3759	c.3658G>C	c.(3658-3660)Gta>Cta	p.V1220L		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1220					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				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						GTTCTTTCTACAAAATGGAAT	0.493																																						ENST00000375377.1																			0				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						c.(3658-3660)Gta>Cta		KIAA1462							125	118	120					10																	30315419		1851	4107	5958	SO:0001583	missense	57608							g.chr10:30315419C>G	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3658G>C	10.37:g.30315419C>G	ENSP00000364526:p.Val1220Leu						p.V1220L	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	3759	-			1220					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.3658G>C	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413995	0.25465	.	.	ENSG00000165757	ENST00000375377	T	0.12569	2.67	5.17	-5.24	0.02789	.	0.923483	0.09373	N	0.811071	T	0.09158	0.0226	L	0.34521	1.04	0.18873	N	0.999986	B	0.19331	0.035	B	0.16289	0.015	T	0.37103	-0.9720	10	0.33940	T	0.23	-1.9789	10.2855	0.43564	0.0:0.5886:0.2532:0.1582	.	1220	Q9P266	K1462_HUMAN	L	1220	ENSP00000364526:V1220L	ENSP00000364526:V1220L	V	-	1	0	KIAA1462	30355425	0.000000	0.05858	0.001000	0.08648	0.821000	0.46438	-0.661000	0.05311	-0.531000	0.06340	-0.345000	0.07892	GTA		0.493	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		3	90	0	0	0	1	0	3	90					G	30315419	C	G	30315419	3	3	490	1	0	0	0	0	1	0	0	0	8234	478	17	5	429	5	KIAA1462	10	30315419	Missense_Mutation	SNP	C	TCGA-ZG-A9LS-01A-12D-A41K-08		30315419	105219328	19	32636											
PLCZ1	89869	broad.mit.edu	37	chr12	18836184	18836184	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattagctgttatctgacgtAccaaacataaacaaacagtg	16	10	6	9	1	1	1	0	1	1	0	1	1	1	1	1	0	5	3	1	0	7	4			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr12:18836184A>G	ENST00000538330.1	-	11	1543	c.1162T>C	c.(1162-1164)Tac>Cac	p.Y388H	PLCZ1_ENST00000435379.1_Missense_Mutation_p.Y411H|PLCZ1_ENST00000447925.2_Missense_Mutation_p.Y604H|PLCZ1_ENST00000539875.1_Missense_Mutation_p.Y413H|PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000266505.7_Missense_Mutation_p.Y606H|PLCZ1_ENST00000534932.1_Missense_Mutation_p.Y87H					phospholipase C, zeta 1											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)					TATCTGACGTACCAAACATAA	0.338																																						ENST00000447925.2																			0				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						c.(1810-1812)Tac>Cac		phospholipase C, zeta 1							121	108	112					12																	18836184		2203	4300	6503	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18836184A>G	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"EF-hand domain containing"	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.1162T>C	12.37:g.18836184A>G	ENSP00000445880:p.Tyr388His					PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000538330.1_Missense_Mutation_p.Y388H|PLCZ1_ENST00000534932.1_Missense_Mutation_p.Y87H|PLCZ1_ENST00000539875.1_Missense_Mutation_p.Y413H|PLCZ1_ENST00000435379.1_Missense_Mutation_p.Y411H|PLCZ1_ENST00000266505.7_Missense_Mutation_p.Y606H	p.Y604H	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN			15	2079	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		606						Missense_Mutation	SNP	ENST00000538330.1	37	c.1810T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.81|13.81	2.347160|2.347160	0.41599|0.41599	.|.	.|.	ENSG00000139151|ENSG00000139151	ENST00000536023|ENST00000534932;ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875	.|T;T;T;T;T;T	.|0.15256	.|2.44;2.44;2.44;2.44;2.44;2.44	5.34|5.34	4.18|4.18	0.49190|0.49190	.|C2 calcium/lipid-binding domain, CaLB (1);	.|0.144783	.|0.47852	.|D	.|0.000201	T|T	0.37865|0.37865	0.1019|0.1019	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	T|T	0.13388|0.13388	-1.0511|-1.0511	5|10	.|0.87932	.|D	.|0	.|.	9.2476|9.2476	0.37536|0.37536	0.8178:0.1822:0.0:0.0|0.8178:0.1822:0.0:0.0	.|.	.|606;388	.|Q86YW0;Q8N7S5	.|PLCZ1_HUMAN;.	A|H	98|87;388;606;604;411;413	.|ENSP00000438826:Y87H;ENSP00000445880:Y388H;ENSP00000266505:Y606H;ENSP00000402358:Y604H;ENSP00000400504:Y411H;ENSP00000445026:Y413H	.|ENSP00000266505:Y606H	V|Y	-|-	2|1	0|0	PLCZ1|PLCZ1	18727451|18727451	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.205000|0.205000	0.24178|0.24178	3.916000|3.916000	0.56416|0.56416	1.024000|1.024000	0.39682|0.39682	-0.316000|-0.316000	0.08728|0.08728	GTA|TAC		0.338	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		3	56	0	0	0	1	0	3	56					G	18836184	A	G	18836184	3	3	490	1	0	0	0	0	1	0	0	0	12044	391	14	4	14	4	PLCZ1	12	18836184	Missense_Mutation	SNP	A	TCGA-ZG-A9LS-01A-12D-A41K-08		18836184	115015711	20	32637											
ITGA7	3679	broad.mit.edu	37	chr12	56090747	56090747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttcagccacacggtgcccGaggcctggtgcttgggttct	4	10	14	13	2	2	0	1	0	1	0	2	1	2	0	3	4	3	3	3	4	0	3	rs548594784		TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr12:56090747G>A	ENST00000555728.1	-	13	1833	c.1805C>T	c.(1804-1806)tCg>tTg	p.S602L	ITGA7_ENST00000394230.2_Missense_Mutation_p.S562L|ITGA7_ENST00000452168.2_Missense_Mutation_p.S465L|ITGA7_ENST00000394229.2_Missense_Mutation_p.S558L|ITGA7_ENST00000347027.6_Missense_Mutation_p.S552L|ITGA7_ENST00000257879.6_Missense_Mutation_p.S558L|ITGA7_ENST00000257880.7_Missense_Mutation_p.S602L|ITGA7_ENST00000553804.1_Missense_Mutation_p.S562L			Q13683	ITA7_HUMAN	integrin, alpha 7	602					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			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						CACGGTGCCCGAGGCCTGGTG	0.602													G|||	1	0.000199681	0	0	5008	,	,		18562	0		0	False		,,,				2504	0.001					ENST00000257880.7																			0				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						c.(1804-1806)tCg>tTg		integrin, alpha 7							75	65	69					12																	56090747		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56090747G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1805C>T	12.37:g.56090747G>A	ENSP00000452387:p.Ser602Leu					ITGA7_ENST00000394229.2_Missense_Mutation_p.S558L|ITGA7_ENST00000347027.6_Missense_Mutation_p.S552L|ITGA7_ENST00000257879.6_Missense_Mutation_p.S558L|ITGA7_ENST00000394230.2_Missense_Mutation_p.S562L|ITGA7_ENST00000452168.2_Missense_Mutation_p.S465L|ITGA7_ENST00000555728.1_Missense_Mutation_p.S602L|ITGA7_ENST00000553804.1_Missense_Mutation_p.S562L	p.S602L			Q13683	ITA7_HUMAN			13	2024	-			602					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.1805C>T		.	.	.	.	.	.	.	.	.	.	G	15.39	2.818283	0.50633	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000555728	T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	4.41	4.41	0.53225	Integrin alpha-2 (1);	0.446289	0.20651	N	0.088201	T	0.59459	0.2195	M	0.65498	2.005	0.09310	N	1	D;D;D;D	0.58268	0.976;0.957;0.976;0.982	P;P;P;P	0.54140	0.743;0.608;0.674;0.73	T	0.56673	-0.7940	10	0.72032	D	0.01	.	14.8887	0.70590	0.0:0.0:1.0:0.0	.	465;602;562;621	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	L	562;558;552;465;602;562;558;602	ENSP00000452120:S562L;ENSP00000257879:S558L;ENSP00000343009:S552L;ENSP00000393844:S465L;ENSP00000257880:S602L;ENSP00000377777:S562L;ENSP00000377776:S558L;ENSP00000452387:S602L	ENSP00000257879:S558L	S	-	2	0	ITGA7	54377014	0.986000	0.35501	0.791000	0.31998	0.500000	0.33767	3.476000	0.53143	2.180000	0.69256	0.561000	0.74099	TCG		0.602	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		7	18	0	0	0	1	0	7	18					A	56090747	G	A	56090747	3	1	490	1	0	0	0	0	1	0	0	0	7881	1059	37	2	1796	2	ITGA7	12	56090747	Missense_Mutation	SNP	G	TCGA-ZG-A9LS-01A-12D-A41K-08	37254563	56090747	77761148	21	32638											
TLE3	7090	broad.mit.edu	37	chr15	70347600	70347600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggggaagggcacgggctGcatctgcccatcagcactca	8	6	15	12	1	3	0	2	0	1	0	3	1	3	1	1	4	3	4	1	4	1	0			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr15:70347600G>T	ENST00000558939.1	-	15	2752	c.1375C>A	c.(1375-1377)Cag>Aag	p.Q459K	TLE3_ENST00000539550.1_Missense_Mutation_p.Q386K|TLE3_ENST00000560939.1_Missense_Mutation_p.Q461K|TLE3_ENST00000559929.1_Missense_Mutation_p.Q469K|TLE3_ENST00000558201.1_Missense_Mutation_p.Q465K|TLE3_ENST00000557907.1_Missense_Mutation_p.Q451K|TLE3_ENST00000317509.8_Missense_Mutation_p.Q447K|TLE3_ENST00000440567.3_Missense_Mutation_p.Q449K|TLE3_ENST00000442299.2_Missense_Mutation_p.Q451K|TLE3_ENST00000559191.1_Missense_Mutation_p.Q40K|TLE3_ENST00000557997.1_Missense_Mutation_p.Q451K|TLE3_ENST00000451782.2_Missense_Mutation_p.Q456K|TLE3_ENST00000559048.1_Missense_Mutation_p.Q459K|TLE3_ENST00000560589.1_Missense_Mutation_p.Q403K|TLE3_ENST00000558379.1_Missense_Mutation_p.Q454K	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	459					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGCACGGGCTGCATCTGCCCA	0.647																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1375-1377)Cag>Aag		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							55	66	62					15																	70347600		2198	4297	6495	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70347600G>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"WD repeat domain containing"	11839	protein-coding gene	gene with protein product		600190	"transducin-like enhancer of split 3, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1375C>A	15.37:g.70347600G>T	ENSP00000452871:p.Gln459Lys					TLE3_ENST00000557997.1_Missense_Mutation_p.Q451K|TLE3_ENST00000560589.1_Missense_Mutation_p.Q403K|TLE3_ENST00000451782.2_Missense_Mutation_p.Q456K|TLE3_ENST00000559191.1_Missense_Mutation_p.Q40K|TLE3_ENST00000560939.1_Missense_Mutation_p.Q461K|TLE3_ENST00000559929.1_Missense_Mutation_p.Q469K|TLE3_ENST00000558201.1_Missense_Mutation_p.Q465K|TLE3_ENST00000440567.3_Missense_Mutation_p.Q449K|TLE3_ENST00000558379.1_Missense_Mutation_p.Q454K|TLE3_ENST00000317509.8_Missense_Mutation_p.Q447K|TLE3_ENST00000559048.1_Missense_Mutation_p.Q459K|TLE3_ENST00000442299.2_Missense_Mutation_p.Q451K|TLE3_ENST00000557907.1_Missense_Mutation_p.Q451K|TLE3_ENST00000539550.1_Missense_Mutation_p.Q386K	p.Q459K			Q04726	TLE3_HUMAN			15	2752	-			459					B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.1375C>A	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108062	0.77096	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550;ENST00000542329	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	4.54	4.54	0.55810	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	M	0.87682	2.9	0.58432	D	0.999998	B;B;P;B;P;B;B;B	0.48694	0.347;0.387;0.914;0.387;0.654;0.387;0.347;0.369	B;B;B;B;B;B;B;B	0.42851	0.184;0.121;0.293;0.099;0.4;0.121;0.184;0.176	T	0.26815	-1.0092	10	0.87932	D	0	-0.0042	16.2284	0.82315	0.0:0.0:1.0:0.0	.	449;456;451;454;447;459;459;386	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	K	451;456;459;449;386;126	ENSP00000390007:Q451K;ENSP00000394717:Q456K;ENSP00000415057:Q449K;ENSP00000442594:Q386K	ENSP00000319233:Q459K	Q	-	1	0	TLE3	68134654	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.530000	0.98051	2.352000	0.79861	0.462000	0.41574	CAG		0.647	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		14	39	1	0	7.93312e-07	1	8.462e-07	14	39					T	70347600	G	T	70347600	3	4	490	1	0	0	0	0	1	0	0	0	15937	1328	46	5	967	5	TLE3	15	70347600	Missense_Mutation	SNP	G	TCGA-ZG-A9LS-01A-12D-A41K-08		70347600	32183792	22	32639											
PKD1	5310	broad.mit.edu	37	chr16	2150415	2150415	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttgttgtcgtgccacaCtcggatcttccacacgctac	7	12	7	15	3	1	0	0	0	1	0	4	1	2	1	3	1	2	2	3	1	1	4			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr16:2150415C>G	ENST00000262304.4	-	27	9758	c.9550G>C	c.(9550-9552)Gtg>Ctg	p.V3184L	PKD1_ENST00000423118.1_Missense_Mutation_p.V3184L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3184	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCGTGCCACACTCGGATCTTC	0.667																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(9550-9552)Gtg>Ctg		polycystic kidney disease 1 (autosomal dominant)							89	101	97					16																	2150415		2198	4299	6497	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2150415C>G	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.9550G>C	16.37:g.2150415C>G	ENSP00000262304:p.Val3184Leu					PKD1_ENST00000423118.1_Missense_Mutation_p.V3184L	p.V3184L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			27	9758	-			3184			PLAT.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.9550G>C	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	6.996	0.553872	0.13374	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.62364	0.03;0.03	4.84	4.84	0.62591	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.322400	0.29987	N	0.010686	T	0.43077	0.1231	N	0.21448	0.665	0.29151	N	0.878392	B;B	0.32781	0.384;0.305	B;B	0.36030	0.137;0.216	T	0.32375	-0.9909	10	0.17369	T	0.5	.	5.14	0.14954	0.0:0.6583:0.2112:0.1304	.	3184;3184	P98161-3;P98161	.;PKD1_HUMAN	L	3184;3184;2519	ENSP00000262304:V3184L;ENSP00000399501:V3184L	ENSP00000262304:V3184L	V	-	1	0	PKD1	2090416	0.529000	0.26322	0.958000	0.39756	0.976000	0.68499	0.934000	0.28910	2.501000	0.84356	0.555000	0.69702	GTG		0.667	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			18	72	0	0	0	1	0	18	72					G	2150415	C	G	2150415	3	3	490	1	0	0	0	0	1	0	0	0	11963	565	20	5	3441	5	PKD1	16	2150415	Missense_Mutation	SNP	C	TCGA-ZG-A9LS-01A-12D-A41K-08		2150415	88204338	23	32640											
CIRH1A	84916	broad.mit.edu	37	chr16	69177241	69177241	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagccactgggacgcttgtGaagagccatctcatcgctaa	10	9	10	12	2	2	2	2	1	1	1	4	3	2	3	2	1	2	2	2	1	2	2			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr16:69177241G>A	ENST00000314423.7	+	6	864	c.687G>A	c.(685-687)gtG>gtA	p.V229V	CIRH1A_ENST00000563094.1_Silent_p.V229V|CIRH1A_ENST00000352319.4_Silent_p.V229V|CIRH1A_ENST00000569615.2_3'UTR			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	229					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GGACGCTTGTGAAGAGCCATC	0.542																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000563094.1																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(685-687)gtG>gtA		cirrhosis, autosomal recessive 1A (cirhin)							218	164	183					16																	69177241		2198	4300	6498	SO:0001819	synonymous_variant	84916					nucleolus	protein binding	g.chr16:69177241G>A	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"WD repeat domain containing"	1983	protein-coding gene	gene with protein product	"UTP4, small subunit (SSU) processome component, homolog (yeast)"	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.687G>A	16.37:g.69177241G>A						CIRH1A_ENST00000352319.4_Silent_p.V229V|CIRH1A_ENST00000314423.7_Silent_p.V229V|CIRH1A_ENST00000569615.2_3'UTR	p.V229V			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	6	721	+			229					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Silent	SNP	ENST00000314423.7	37	c.687G>A	CCDS10872.1																																																																																				0.542	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		16	56	0	0	0	1	0	16	56					A	69177241	G	A	69177241	2	1	490	1	0	0	0	0	0	0	0	1	3434	1277	45	3		3	CIRH1A	16	69177241	Silent	SNP	G	TCGA-ZG-A9LS-01A-12D-A41K-08	67026826	69177241	21177512	24	32641											
ANKRD11	29123	broad.mit.edu	37	chr16	89348421	89348421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttgagcacgcggggcGggctgtccttgtccctggtg	2	12	16	11	3	1	1	0	1	1	0	3	1	3	1	2	4	1	2	2	4	0	2			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr16:89348421G>A	ENST00000301030.4	-	9	4989	c.4529C>T	c.(4528-4530)cCg>cTg	p.P1510L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1510L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1510	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)		CACGCGGGGCGGGCTGTCCTT	0.637																																						ENST00000301030.4																			0				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						c.(4528-4530)cCg>cTg		ankyrin repeat domain 11							61	56	58					16																	89348421		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89348421G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4529C>T	16.37:g.89348421G>A	ENSP00000301030:p.Pro1510Leu					ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1510L	p.P1510L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		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)	9	4989	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1510			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.4529C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660863	0.47572	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.39056	1.1;1.1	4.92	3.95	0.45737	.	0.219885	0.38548	N	0.001658	T	0.40067	0.1102	L	0.56769	1.78	0.80722	D	1	B	0.22541	0.071	B	0.10450	0.005	T	0.37911	-0.9685	10	0.72032	D	0.01	.	13.0367	0.58877	0.0801:0.0:0.9199:0.0	.	1510	Q6UB99	ANR11_HUMAN	L	1510	ENSP00000301030:P1510L;ENSP00000367581:P1510L	ENSP00000301030:P1510L	P	-	2	0	ANKRD11	87875922	1.000000	0.71417	0.010000	0.14722	0.108000	0.19459	4.657000	0.61490	1.176000	0.42840	0.563000	0.77884	CCG		0.637	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		7	37	0	0	0	1	0	7	37					A	89348421	G	A	89348421	3	1	490	1	0	0	0	0	1	0	0	0	639	1116	39	2	3482	2	ANKRD11	16	89348421	Missense_Mutation	SNP	G	TCGA-ZG-A9LS-01A-12D-A41K-08	20171180	89348421	1006332	25	32642											
SLC5A10	125206	broad.mit.edu	37	chr17	18880288	18880288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgccgggcatgatcagccGcgcattgttcccaggtagga	8	8	13	12	3	1	1	1	1	0	0	2	2	2	2	3	3	2	4	3	3	1	3			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr17:18880288G>A	ENST00000395645.3	+	9	986	c.968G>A	c.(967-969)cGc>cAc	p.R323H	SLC5A10_ENST00000317977.6_Missense_Mutation_p.R240H|FAM83G_ENST00000345041.4_Intron|FAM83G_ENST00000388995.6_Intron|SLC5A10_ENST00000395643.2_Missense_Mutation_p.R296H|FAM83G_ENST00000585154.2_Intron|SLC5A10_ENST00000395647.2_Missense_Mutation_p.R323H|SLC5A10_ENST00000395642.1_Missense_Mutation_p.R240H|SLC5A10_ENST00000417251.2_Missense_Mutation_p.R323H	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	323					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						ATGATCAGCCGCGCATTGTTC	0.627																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(718-720)cGc>cAc		solute carrier family 5 (sodium/sugar cotransporter), member 10							89	77	81					17																	18880288		2203	4300	6503	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18880288G>A		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.968G>A	17.37:g.18880288G>A	ENSP00000379007:p.Arg323His					FAM83G_ENST00000345041.4_Intron|SLC5A10_ENST00000395645.3_Missense_Mutation_p.R323H|SLC5A10_ENST00000395642.1_Missense_Mutation_p.R240H|FAM83G_ENST00000388995.6_Intron|SLC5A10_ENST00000395647.2_Missense_Mutation_p.R323H|FAM83G_ENST00000585154.2_Intron|SLC5A10_ENST00000417251.2_Missense_Mutation_p.R323H|SLC5A10_ENST00000395643.2_Missense_Mutation_p.R296H	p.R240H			A0PJK1	SC5AA_HUMAN			8	1290	+			323					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.719G>A	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368370	0.95900	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.96904	0.8989	H	0.97390	3.995	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.926;0.978	D;D;D;P;P	0.80764	0.994;0.982;0.99;0.476;0.633	D	0.97595	1.0119	10	0.87932	D	0	.	20.023	0.97509	0.0:0.0:1.0:0.0	.	323;296;323;323;240	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	H	240;323;240;323;323;296	ENSP00000324346:R240H;ENSP00000379008:R323H;ENSP00000379004:R240H;ENSP00000401875:R323H;ENSP00000379007:R323H;ENSP00000379005:R296H	ENSP00000324346:R240H	R	+	2	0	SLC5A10	18821013	1.000000	0.71417	0.970000	0.41538	0.788000	0.44548	9.668000	0.98619	2.837000	0.97791	0.655000	0.94253	CGC		0.627	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		9	33	0	0	0	1	0	9	33					A	18880288	G	A	18880288	3	1	490	1	0	0	0	0	1	0	0	0	14662	1087	38	1	1002	1	SLC5A10	17	18880288	Missense_Mutation	SNP	G	TCGA-ZG-A9LS-01A-12D-A41K-08		18880288	62314922	26	32643											
ABCA8	10351	broad.mit.edu	37	chr17	66871845	66871845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggagggcacccctttccGtgtttctaaaggtggcccgg	6	11	13	11	2	1	0	0	0	1	0	2	1	2	1	4	5	0	2	4	5	3	4	rs182925368		TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr17:66871845G>A	ENST00000269080.2	-	34	4417	c.4280C>T	c.(4279-4281)aCg>aTg	p.T1427M	ABCA8_ENST00000430352.2_Missense_Mutation_p.T1467M|ABCA8_ENST00000586539.1_Missense_Mutation_p.T1467M	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1427	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.T1427M(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACCCCTTTCCGTGTTTCTAAA	0.483													G|||	1	0.000199681	0	0.0014	5008	,	,		18877	0		0	False		,,,				2504	0					ENST00000269080.2																			1	Substitution - Missense(1)	p.T1427M(1)	urinary_tract(1)	breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(4279-4281)aCg>aTg		ATP-binding cassette, sub-family A (ABC1), member 8							77	61	66					17																	66871845		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66871845G>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4280C>T	17.37:g.66871845G>A	ENSP00000269080:p.Thr1427Met					ABCA8_ENST00000430352.2_Missense_Mutation_p.T1467M|ABCA8_ENST00000586539.1_Missense_Mutation_p.T1467M	p.T1427M	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			34	4417	-	Breast(10;4.56e-13)		1427			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.4280C>T	CCDS11680.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.57	2.275542	0.40294	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.95482	-3.72;-3.72	4.36	3.31	0.37934	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.377447	0.22622	N	0.057690	D	0.88789	0.6532	L	0.27053	0.805	0.29885	N	0.825709	P;P;P	0.47350	0.894;0.756;0.894	B;B;B	0.35278	0.199;0.14;0.097	D	0.86836	0.2014	10	0.56958	D	0.05	.	9.7548	0.40498	0.0:0.0:0.6391:0.3609	.	1467;1467;1427	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	M	1427;1467	ENSP00000269080:T1427M;ENSP00000402814:T1467M	ENSP00000269080:T1427M	T	-	2	0	ABCA8	64383440	0.975000	0.34042	0.990000	0.47175	0.885000	0.51271	1.822000	0.39052	2.441000	0.82636	0.650000	0.86243	ACG		0.483	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		9	28	0	0	0	1	0	9	28					A	66871845	G	A	66871845	3	1	490	1	0	0	0	0	1	0	0	0	38	1145	40	1	485	1	ABCA8	17	66871845	Missense_Mutation	SNP	G	TCGA-ZG-A9LS-01A-12D-A41K-08	47991557	66871845	14323365	27	32644											
HGS	9146	broad.mit.edu	37	chr17	79667788	79667788	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctccgcagtccagcaccAtgggctacatggggagccag	9	5	13	14	1	0	0	0	0	0	0	2	1	2	1	5	3	4	3	5	3	1	1			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr17:79667788A>G	ENST00000329138.4	+	20	2215	c.2080A>G	c.(2080-2082)Atg>Gtg	p.M694V	SLC25A10_ENST00000571730.1_5'Flank|SLC25A10_ENST00000541223.1_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA|MRPL12_ENST00000333676.3_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	694	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			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)			GTCCAGCACCATGGGCTACAT	0.657																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(2080-2082)Atg>Gtg		hepatocyte growth factor-regulated tyrosine kinase substrate							39	37	38					17																	79667788		2203	4299	6502	SO:0001583	missense	9146				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	g.chr17:79667788A>G	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.2080A>G	17.37:g.79667788A>G	ENSP00000331201:p.Met694Val						p.M694V	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		20	2215	+	all_neural(118;0.0878)|all_lung(278;0.23)		694			Gln-rich.|Interaction with NF2.		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	c.2080A>G	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	A	7.223	0.597672	0.13875	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.37915	1.17	4.6	2.38	0.29361	.	1.659970	0.03209	N	0.175988	T	0.20941	0.0504	N	0.08118	0	0.24182	N	0.995584	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	10	0.17369	T	0.5	-13.1233	7.7466	0.28873	0.6574:0.0:0.3426:0.0	.	694	O14964	HGS_HUMAN	V	694;608	ENSP00000331201:M694V	ENSP00000331201:M694V	M	+	1	0	HGS	77278193	0.756000	0.28383	0.619000	0.29118	0.749000	0.42624	1.625000	0.37029	0.288000	0.22398	0.459000	0.35465	ATG		0.657	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		8	25	0	0	0	1	0	8	25					G	79667788	A	G	79667788	3	3	490	1	0	0	0	0	1	0	0	0	7087	217	8	4	2158	4	HGS	17	79667788	Missense_Mutation	SNP	A	TCGA-ZG-A9LS-01A-12D-A41K-08	12795943	79667788	1527422	28	32645											
CLEC17A	388512	broad.mit.edu	37	chr19	14706127	14706127	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgcagccatccctggccGgtaagtgtcctcccatttcc	6	11	8	16	1	0	0	0	0	0	0	4	0	4	0	6	2	2	2	6	2	1	3	rs368206109		TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr19:14706127G>A	ENST00000417570.1	+	8	483	c.445G>A	c.(445-447)Gca>Aca	p.A149T	CLEC17A_ENST00000397439.2_Splice_Site_p.A132T|CLEC17A_ENST00000547437.1_Splice_Site_p.A149T	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	149						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										ATCCCTGGCCGGTAAGTGTCC	0.498													N|||	1	0.000199681	0	0	5008	,	,		21379	0		0	False		,,,				2504	0.001					ENST00000547437.1																			0											c.e8+1		C-type lectin domain family 17, member A		G	THR/ALA,THR/ALA	0,3932		0,0,1966	238	225	229		445,445	-1.4	0	19		229	1,8307		0,1,4153	no	missense-near-splice,missense-near-splice	CLEC17A	NM_207390.3,NM_001204118.1	58,58	0,1,6119	AA,AG,GG		0.012,0.0,0.0082	benign,benign	149/307,149/379	14706127	1,12239	1966	4154	6120	SO:0001630	splice_region_variant	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14706127G>A	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"C-type lectin domain containing"	34520	protein-coding gene	gene with protein product	"prolectin"					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.445+1G>A	19.37:g.14706127G>A						CLEC17A_ENST00000397439.2_Splice_Site_p.A132_splice|CLEC17A_ENST00000417570.1_Splice_Site_p.A149_splice	p.A149_splice	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN			8	522	+			149					A8MX68|B2RTX0|B7ZMM4	Splice_Site	SNP	ENST00000417570.1	37	c.445_splice	CCDS56087.1	.	.	.	.	.	.	.	.	.	.	-	7.176	0.588598	0.13812	0.0	1.2E-4	ENSG00000187912	ENST00000547437;ENST00000397439;ENST00000417570	T;T;T	0.62941	-0.01;-0.01;-0.01	2.59	-1.37	0.09056	.	1.161070	0.06761	N	0.781787	T	0.32466	0.0830	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.27594	0.004;0.09;0.021;0.182	B;B;B;B	0.15870	0.005;0.009;0.003;0.014	T	0.17349	-1.0372	10	0.02654	T	1	-30.974	3.1288	0.06417	0.39:0.2424:0.3676:0.0	.	149;149;149;149	Q6ZS10-2;Q6ZS10-3;Q6ZS10;F8W1T8	.;.;CL17A_HUMAN;.	T	149;132;149	ENSP00000450065:A149T;ENSP00000380581:A132T;ENSP00000393719:A149T	ENSP00000341620:A149T	A	+	1	0	CLEC17A	14567127	0.143000	0.22626	0.013000	0.15412	0.022000	0.10575	0.066000	0.14489	-0.357000	0.08175	0.492000	0.49549	GCA		0.498	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390	Missense_Mutation	4	141	0	0	0	1	0	4	141					A	14706127	G	A	14706127	5	1	490	1	0	0	0	0	0	0	1	0	3501	1130	39	2	420	2	CLEC17A	19	14706127	Splice_Site	SNP	G	TCGA-ZG-A9LS-01A-12D-A41K-08		14706127	44422856	29	32646											
CD22	933	broad.mit.edu	37	chr19	35832259	35832259	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagatgccccccgagaCgtgagggtccggaaaatcaa	11	5	11	14	3	1	3	1	1	0	2	3	5	3	4	6	2	1	0	6	2	3	0			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr19:35832259C>T	ENST00000085219.5	+	8	1587	c.1521C>T	c.(1519-1521)gaC>gaT	p.D507D	CD22_ENST00000594250.1_Silent_p.D330D|CD22_ENST00000341773.6_Silent_p.D330D|CD22_ENST00000419549.2_Silent_p.D335D|CD22_ENST00000536635.2_Silent_p.D419D|CD22_ENST00000544992.2_Silent_p.D507D|CD22_ENST00000270311.6_Silent_p.D387D	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	507	Ig-like C2-type 5.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			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)			CCCCCCGAGACGTGAGGGTCC	0.607																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				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						c.(1519-1521)gaC>gaT		CD22 molecule	OspA lipoprotein(DB00045)						28	28	28					19																	35832259		2203	4300	6503	SO:0001819	synonymous_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35832259C>T	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1521C>T	19.37:g.35832259C>T						CD22_ENST00000594250.1_Silent_p.D330D|CD22_ENST00000544992.2_Silent_p.D507D|CD22_ENST00000536635.2_Silent_p.D419D|CD22_ENST00000419549.2_Silent_p.D335D|CD22_ENST00000341773.6_Silent_p.D330D|CD22_ENST00000270311.6_Silent_p.D387D	p.D507D	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	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)		8	1587	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		507			Ig-like C2-type 5.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	c.1521C>T	CCDS12457.1																																																																																				0.607	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		7	27	0	0	0	1	0	7	27					T	35832259	C	T	35832259	2	4	490	1	0	0	0	0	0	0	0	1	2985	535	19	1		1	CD22	19	35832259	Silent	SNP	C	TCGA-ZG-A9LS-01A-12D-A41K-08	21126132	35832259	23296724	30	32647											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45994549	45994549	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagtctagctgccagcCagcttgctgcacctcctccc	6	8	8	19	0	1	0	0	0	1	0	3	0	3	0	6	0	7	5	6	0	1	2			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr21:45994549C>A	ENST00000400374.3	+	1	944	c.914C>A	c.(913-915)cCa>cAa	p.P305Q	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	305	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						AGCTGCCAGCCAGCTTGCTGC	0.627																																						ENST00000400374.3																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(913-915)cCa>cAa		keratin associated protein 10-4							117	124	122					21																	45994549		2203	4300	6503	SO:0001583	missense	386672					keratin filament		g.chr21:45994549C>A	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.914C>A	21.37:g.45994549C>A	ENSP00000383225:p.Pro305Gln					TSPEAR_ENST00000323084.4_Intron	p.P305Q	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN			1	944	+			305			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.914C>A	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	c	11.18	1.563759	0.27915	.	.	ENSG00000215454	ENST00000400374	T	0.02158	4.42	3.07	3.07	0.35406	.	.	.	.	.	T	0.13072	0.0317	M	0.91612	3.225	0.24556	N	0.994	D	0.76494	0.999	D	0.69824	0.966	T	0.05419	-1.0886	9	0.54805	T	0.06	.	6.3991	0.21628	0.0:0.854:0.0:0.1459	.	305	P60372	KR104_HUMAN	Q	305	ENSP00000383225:P305Q	ENSP00000383225:P305Q	P	+	2	0	KRTAP10-4	44818977	0.086000	0.21541	0.106000	0.21319	0.667000	0.39255	1.163000	0.31798	1.390000	0.46547	0.603000	0.83216	CCA		0.627	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		4	156	1	0	0.00909568	1	0.00909568	4	156					A	45994549	C	A	45994549	3	1	490	1	0	0	0	0	1	0	0	0	8511	594	21	5	916	5	KRTAP10-4	21	45994549	Missense_Mutation	SNP	C	TCGA-ZG-A9LS-01A-12D-A41K-08		45994549	2135346	31	32648											
USP24	23358	broad.mit.edu	37	chr1	55572934	55572934	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatttccttttctgccccAcagagtgaaagaagggtctt	10	12	9	10	0	2	3	0	1	2	2	3	3	3	3	3	1	2	1	3	1	2	4			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr1:55572934A>C	ENST00000294383.6	-	40	4739	c.4740T>G	c.(4738-4740)tgT>tgG	p.C1580W	USP24_ENST00000407756.1_Missense_Mutation_p.C1420W	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1580					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTTCTGCCCCACAGAGTGAAA	0.453																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(4738-4740)tgT>tgG		ubiquitin specific peptidase 24							132	129	130					1																	55572934		1972	4153	6125	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55572934A>C	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4740T>G	1.37:g.55572934A>C	ENSP00000294383:p.Cys1580Trp					USP24_ENST00000407756.1_Missense_Mutation_p.C1420W	p.C1580W	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			40	4739	-			1580					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.4740T>G	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	A	18.53	3.643550	0.67244	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.66815	-0.23;-0.23	5.92	2.37	0.29283	.	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	L	0.36672	1.1	0.80722	D	1	D	0.67145	0.996	P	0.58077	0.832	T	0.64795	-0.6323	10	0.62326	D	0.03	.	9.4829	0.38911	0.8008:0.0:0.1992:0.0	.	1420	B7WPF4	.	W	1580;1420	ENSP00000294383:C1580W;ENSP00000385700:C1420W	ENSP00000294383:C1580W	C	-	3	2	USP24	55345522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.363000	0.44178	0.156000	0.19299	0.533000	0.62120	TGT		0.453	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			5	49	0	0	0	1	0	5	49					C	55572934	A	C	55572934	3	2	491	1	0	0	0	0	1	0	0	0	17052	157	6	5	3238	5	USP24	1	55572934	Missense_Mutation	SNP	A	TCGA-ZG-A9LU-01A-11D-A41K-08		55572934	193677687	1	32649											
PDE4DIP	9659	broad.mit.edu	37	chr1	144930870	144930870	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgattacacccatgctgcGgagcctgatcatctgaacaa	11	10	9	11	1	2	3	1	3	1	0	2	4	2	4	2	1	5	1	2	1	3	1			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr1:144930870G>A	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000529945.1_Missense_Mutation_p.P280L|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.P280L|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369356.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCCATGCTGCGGAGCCTGATC	0.498			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(838-840)cCg>cTg		phosphodiesterase 4D interacting protein							154	150	151					1																	144930870		2203	4300	6503	SO:0001627	intron_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144930870G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7049C>T	1.37:g.144930870G>A						PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.P280L|PDE4DIP_ENST00000530740.1_Intron	p.P280L			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	1278	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.839C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542558	0.45280	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.11385	2.78;2.78	5.49	4.56	0.56223	.	.	.	.	.	T	0.02304	0.0071	N	0.11427	0.14	0.80722	D	1	P	0.35774	0.519	B	0.20767	0.031	T	0.43814	-0.9368	9	0.72032	D	0.01	.	12.6128	0.56560	0.0831:0.0:0.9169:0.0	.	280	Q5VU43-2	.	L	280	ENSP00000316434:P280L;ENSP00000433392:P280L	ENSP00000316434:P280L	P	-	2	0	PDE4DIP	143642227	0.784000	0.28713	0.994000	0.49952	0.192000	0.23643	3.146000	0.50631	2.594000	0.87642	0.586000	0.80456	CCG		0.498	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		7	135	0	0	0	1	0	7	135					A	144930870	G	A	144930870	1	1	491	0	1	0	0	0	0	0	0	0	11643	1116	39	2		2	PDE4DIP	1	144930870	Intron	SNP	G	TCGA-ZG-A9LU-01A-11D-A41K-08	89357936	144930870	104319751	2	32650											
DUSP27	92235	broad.mit.edu	37	chr1	167088583	167088583	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttacactggccccgaattcTacactggcctggagatccag	9	10	9	13	1	1	1	0	0	1	1	2	3	2	1	4	3	2	0	4	3	3	4			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr1:167088583T>C	ENST00000361200.2	+	5	701	c.535T>C	c.(535-537)Tac>Cac	p.Y179H	DUSP27_ENST00000443333.1_Missense_Mutation_p.Y179H|DUSP27_ENST00000271385.5_Missense_Mutation_p.Y179H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	179					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCCCGAATTCTACACTGGCCT	0.557																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(535-537)Tac>Cac		dual specificity phosphatase 27 (putative)							128	116	120					1																	167088583		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167088583T>C	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.535T>C	1.37:g.167088583T>C	ENSP00000354483:p.Tyr179His					DUSP27_ENST00000271385.5_Missense_Mutation_p.Y179H|DUSP27_ENST00000443333.1_Missense_Mutation_p.Y179H	p.Y179H			Q5VZP5	DUS27_HUMAN			5	701	+			179					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.535T>C	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.693821	0.88735	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.61158	0.13;0.13;0.13	5.18	5.18	0.71444	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	M	0.68317	2.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.73773	-0.3877	10	0.87932	D	0	-23.5185	15.0182	0.71605	0.0:0.0:0.0:1.0	.	179	Q5VZP5	DUS27_HUMAN	H	179	ENSP00000354483:Y179H;ENSP00000271385:Y179H;ENSP00000404874:Y179H	ENSP00000271385:Y179H	Y	+	1	0	DUSP27	165355207	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	1.936000	0.56123	0.482000	0.46254	TAC		0.557	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		5	36	0	0	0	1	0	5	36					C	167088583	T	C	167088583	3	2	491	1	0	0	0	0	1	0	0	0	4824	1522	53	4	549	4	DUSP27	1	167088583	Missense_Mutation	SNP	T	TCGA-ZG-A9LU-01A-11D-A41K-08	22157713	167088583	82162038	3	32651											
RBM34	23029	broad.mit.edu	37	chr1	235295210	235295210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatcgtggatttgaattttGttgtttaaatttttctttat	9	23	6	3	1	1	1	0	1	1	0	2	2	1	2	0	1	0	2	0	1	5	10			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr1:235295210G>T	ENST00000408888.3	-	11	1341	c.1111C>A	c.(1111-1113)Caa>Aaa	p.Q371K	TOMM20_ENST00000366607.4_5'Flank|RBM34_ENST00000366606.3_Missense_Mutation_p.Q366K|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	371						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			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)			TTTGAATTTTGTTGTTTAAAT	0.328																																						ENST00000408888.3																			0				central_nervous_system(1)	1						c.(1111-1113)Caa>Aaa		RNA binding motif protein 34							88	81	83					1																	235295210		1809	4070	5879	SO:0001583	missense	23029					nucleolus	nucleotide binding|RNA binding	g.chr1:235295210G>T		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"RNA binding motif (RRM) containing"	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.1111C>A	1.37:g.235295210G>T	ENSP00000386226:p.Gln371Lys					RBM34_ENST00000366606.3_Missense_Mutation_p.Q366K|RBM34_ENST00000495224.1_5'UTR	p.Q371K			P42696	RBM34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		11	1341	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	371					A8K8J7|Q8N2Z8|Q9H5A1	Missense_Mutation	SNP	ENST00000408888.3	37	c.1111C>A	CCDS41477.2	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.102239	0.00360	.	.	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000447801	T;T;T	0.74209	2.52;-0.82;2.67	3.1	2.12	0.27331	.	0.795718	0.10960	N	0.615084	T	0.66086	0.2754	M	0.68317	2.08	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51529	-0.8694	10	0.05959	T	0.93	-8.5012	8.5115	0.33220	0.0:0.0:0.405:0.595	.	371	P42696	RBM34_HUMAN	K	371;366;349	ENSP00000386226:Q371K;ENSP00000355565:Q366K;ENSP00000400000:Q349K	ENSP00000355565:Q366K	Q	-	1	0	RBM34	233361833	0.220000	0.23631	0.794000	0.32065	0.578000	0.36192	0.358000	0.20216	0.409000	0.25649	0.514000	0.50259	CAA		0.328	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		7	55	1	0	0.00448238	1	0.00458425	7	55					T	235295210	G	T	235295210	3	4	491	1	0	0	0	0	1	0	0	0	13131	1386	48	5	185	5	RBM34	1	235295210	Missense_Mutation	SNP	G	TCGA-ZG-A9LU-01A-11D-A41K-08	68206627	235295210	13955411	4	32652											
TTC15	51112	broad.mit.edu	37	chr2	3391659	3391659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggcgacctgggccgagtgCgggacgaagctgagcccgga	7	3	19	12	6	0	1	0	1	0	0	0	6	0	3	3	4	3	1	3	4	1	0			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr2:3391659C>T	ENST00000324266.5	+	2	460	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R89W	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	89					vesicle-mediated transport (GO:0016192)												GGGCCGAGTGCGGGACGAAGC	0.711																																						ENST00000324266.5																			0											c.(265-267)Cgg>Tgg		trafficking protein particle complex 12							21	19	20					2																	3391659		2197	4290	6487	SO:0001583	missense	51112						binding	g.chr2:3391659C>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.265C>T	2.37:g.3391659C>T	ENSP00000324318:p.Arg89Trp					TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R89W	p.R89W	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN			2	460	+			89					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.265C>T	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828161	0.32329	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.56275	0.47;0.47	5.21	5.21	0.72293	.	0.500306	0.21370	N	0.075645	T	0.55545	0.1927	N	0.22421	0.69	0.23758	N	0.99692	D;D;D	0.76494	0.997;0.996;0.999	B;B;P	0.57776	0.424;0.424;0.827	T	0.53443	-0.8438	10	0.72032	D	0.01	.	16.057	0.80814	0.0:1.0:0.0:0.0	.	72;89;89	E7ENL7;Q8WVT3;Q53S18	.;TPC12_HUMAN;.	W	89;72;89	ENSP00000371544:R89W;ENSP00000324318:R89W	ENSP00000303612:R72W	R	+	1	2	TTC15	3370666	1.000000	0.71417	0.989000	0.46669	0.009000	0.06853	3.149000	0.50655	2.697000	0.92050	0.563000	0.77884	CGG		0.711	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		2	2	0	0	0	1	0	2	2					T	3391659	C	T	3391659	3	4	491	1	0	0	0	0	1	0	0	0	16679	759	27	1	267	1	TTC15	2	3391659	Missense_Mutation	SNP	C	TCGA-ZG-A9LU-01A-11D-A41K-08		3391659	239807714	5	32653											
THUMPD3	25917	broad.mit.edu	37	chr3	9426287	9426287	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtcttcgtgctgcagtttAcgttctgatacgtacacctc	6	15	9	11	3	2	1	0	1	2	0	4	1	2	1	1	1	5	5	1	1	3	6			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr3:9426287A>G	ENST00000345094.3	+	10	1773	c.1439A>G	c.(1438-1440)tAc>tGc	p.Y480C	THUMPD3_ENST00000452837.2_Missense_Mutation_p.Y480C|SETD5-AS1_ENST00000468186.1_RNA|SETD5-AS1_ENST00000523354.1_RNA|SETD5-AS1_ENST00000519043.1_RNA|SETD5-AS1_ENST00000521609.1_RNA|SETD5-AS1_ENST00000520629.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.Y480C	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	480						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GCTGCAGTTTACGTTCTGATA	0.433																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(1438-1440)tAc>tGc		THUMP domain containing 3							424	350	375					3																	9426287		2203	4300	6503	SO:0001583	missense	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9426287A>G	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.1439A>G	3.37:g.9426287A>G	ENSP00000339532:p.Tyr480Cys					THUMPD3_ENST00000452837.2_Missense_Mutation_p.Y480C|THUMPD3_ENST00000515662.2_Missense_Mutation_p.Y480C|SETD5-AS1_ENST00000468186.1_RNA	p.Y480C	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	10	1773	+	Medulloblastoma(99;0.227)		480					Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	c.1439A>G	CCDS2573.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.104818	0.56291	.	.	ENSG00000134077	ENST00000452837;ENST00000345094;ENST00000515662	T;T;T	0.61859	0.07;0.07;0.07	5.67	5.67	0.87782	.	0.109894	0.64402	D	0.000005	T	0.74137	0.3677	M	0.66939	2.045	0.53005	D	0.999962	D	0.89917	1.0	D	0.74674	0.984	T	0.77156	-0.2691	10	0.87932	D	0	-15.0485	15.5808	0.76439	1.0:0.0:0.0:0.0	.	480	Q9BV44	THUM3_HUMAN	C	480	ENSP00000395893:Y480C;ENSP00000339532:Y480C;ENSP00000424064:Y480C	ENSP00000339532:Y480C	Y	+	2	0	THUMPD3	9401287	1.000000	0.71417	0.999000	0.59377	0.373000	0.29922	4.665000	0.61547	2.176000	0.68965	0.454000	0.30748	TAC		0.433	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		4	135	0	0	0	1	0	4	135					G	9426287	A	G	9426287	3	3	491	1	0	0	0	0	1	0	0	0	15881	391	14	4	1473	4	THUMPD3	3	9426287	Missense_Mutation	SNP	A	TCGA-ZG-A9LU-01A-11D-A41K-08		9426287	188596143	6	32654											
SLC6A6	6533	broad.mit.edu	37	chr3	14508027	14508027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctcgcccttgcaggtcGtctacttcacagccactttt	5	13	6	17	2	3	0	1	0	2	0	5	0	3	0	3	1	3	1	3	1	1	5			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr3:14508027G>A	ENST00000454876.2	+	7	1065	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	SLC6A6_ENST00000360861.3_Missense_Mutation_p.V246I			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	246					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTTGCAGGTCGTCTACTTCAC	0.602																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(736-738)Gtc>Atc		solute carrier family 6 (neurotransmitter transporter), member 6							120	95	103					3																	14508027		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14508027G>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.736G>A	3.37:g.14508027G>A	ENSP00000398063:p.Val246Ile					SLC6A6_ENST00000360861.3_Missense_Mutation_p.V246I	p.V246I			P31641	SC6A6_HUMAN			7	1065	+			246					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.736G>A	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854885	0.71719	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.77489	-1.1;-1.1	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.80613	0.4656	M	0.74881	2.28	0.80722	D	1	P	0.50710	0.938	P	0.44696	0.458	D	0.84993	0.0895	10	0.72032	D	0.01	.	17.6676	0.88207	0.0:0.0:1.0:0.0	.	246	P31641	SC6A6_HUMAN	I	246	ENSP00000398063:V246I;ENSP00000354107:V246I	ENSP00000354107:V246I	V	+	1	0	SLC6A6	14483031	1.000000	0.71417	0.933000	0.37362	0.232000	0.25224	9.862000	0.99564	2.241000	0.73720	0.491000	0.48974	GTC		0.602	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		8	49	0	0	0	1	0	8	49					A	14508027	G	A	14508027	3	1	491	1	0	0	0	0	1	0	0	0	14688	1145	40	1	758	1	SLC6A6	3	14508027	Missense_Mutation	SNP	G	TCGA-ZG-A9LU-01A-11D-A41K-08	5081740	14508027	183514403	7	32655											
GPR98	84059	broad.mit.edu	37	chr5	89990012	89990012	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaacaattcagacttctGgacctacaggaaaaacatga	16	9	7	9	0	3	2	2	1	1	1	3	4	3	4	1	2	3	0	1	2	5	3			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr5:89990012G>A	ENST00000405460.2	+	33	7535	c.7439G>A	c.(7438-7440)tGg>tAg	p.W2480*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2480	Calx-beta 17. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAGACTTCTGGACCTACAGG	0.488																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(7438-7440)tGg>tAg		G protein-coupled receptor 98							69	68	68					5																	89990012		1941	4139	6080	SO:0001587	stop_gained	84059				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	g.chr5:89990012G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7439G>A	5.37:g.89990012G>A	ENSP00000384582:p.Trp2480*						p.W2480*	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	33	7535	+		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)	2480					O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	ENST00000405460.2	37	c.7439G>A	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	49|49	16.038647|16.038647	0.99852|0.99852	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|.	.|.	.|.	5.92|5.92	4.13|4.13	0.48395|0.48395	.|.	.|0.700618	.|0.15746	.|N	.|0.246664	T|.	0.28067|.	0.0692|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.10894|.	-1.0610|.	4|.	.|0.02654	.|T	.|1	.|.	6.9208|6.9208	0.24387|0.24387	0.145:0.0:0.7142:0.1407|0.145:0.0:0.7142:0.1407	.|.	.|.	.|.	.|.	R|X	46|2480	.|.	.|ENSP00000296619:W2480X	G|W	+|+	1|2	0|0	GPR98|GPR98	90025768|90025768	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.040000|4.040000	0.57333|0.57333	0.820000|0.820000	0.34516|0.34516	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.488	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	28	0	0	0	1	0	3	28					A	89990012	G	A	89990012	4	1	491	1	0	0	0	0	0	1	0	0	6721	1357	47	3	7569	3	GPR98	5	89990012	Nonsense_Mutation	SNP	G	TCGA-ZG-A9LU-01A-11D-A41K-08		89990012	90925248	8	32656											
PCSK1	5122	broad.mit.edu	37	chr5	95728927	95728927	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttggtgattgctttggCggtgagtttttactgaaagc	6	18	12	5	1	1	3	0	3	1	0	1	3	1	3	0	3	3	2	0	3	2	7			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr5:95728927C>T	ENST00000311106.3	-	14	2277	c.2040G>A	c.(2038-2040)ccG>ccA	p.P680P	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.P633P	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	680					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ATTGCTTTGGCGGTGAGTTTT	0.532																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(2038-2040)ccG>ccA		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						110	115	113					5																	95728927		2203	4300	6503	SO:0001819	synonymous_variant	5122				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	g.chr5:95728927C>T		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.2040G>A	5.37:g.95728927C>T						PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Silent_p.P633P|CTD-2337A12.1_ENST00000502645.2_RNA	p.P680P	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	14	2277	-		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)	680					B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	37	c.2040G>A	CCDS4081.1																																																																																				0.532	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		5	65	0	0	0	1	0	5	65					T	95728927	C	T	95728927	2	4	491	1	0	0	0	0	0	0	0	1	11600	755	27	1		1	PCSK1	5	95728927	Silent	SNP	C	TCGA-ZG-A9LU-01A-11D-A41K-08	5738915	95728927	85186333	9	32657											
CARD11	84433	broad.mit.edu	37	chr7	2953048	2953048	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtagaaggcgcgtaccagGctgtaggggatgaggctgag	10	6	18	7	2	0	3	0	2	0	1	0	4	0	4	1	5	1	5	1	5	4	3			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr7:2953048G>A	ENST00000396946.4	-	22	3295	c.2892C>T	c.(2890-2892)agC>agT	p.S964S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	964					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			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)		CGCGTACCAGGCTGTAGGGGA	0.677			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		0				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						c.(2890-2892)agC>agT		caspase recruitment domain family, member 11							72	62	65					7																	2953048		2203	4300	6503	SO:0001819	synonymous_variant	84433				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	g.chr7:2953048G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2892C>T	7.37:g.2953048G>A							p.S964S	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	22	3295	-		Ovarian(82;0.0115)	964					A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.2892C>T	CCDS5336.2																																																																																				0.677	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		5	42	0	0	0	1	0	5	42					A	2953048	G	A	2953048	2	1	491	1	0	0	0	0	0	0	0	1	2645	1194	42	3		3	CARD11	7	2953048	Silent	SNP	G	TCGA-ZG-A9LU-01A-11D-A41K-08		2953048	156185615	10	32658											
VSTM2A	222008	broad.mit.edu	37	chr7	54617693	54617693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgccaacagccatgcccGcagaatgcaggccttcgaag	12	5	10	14	2	0	1	0	0	0	1	1	2	0	1	4	1	5	2	4	1	4	1	rs376525790		TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr7:54617693G>A	ENST00000407838.3	+	4	870	c.464G>A	c.(463-465)cGc>cAc	p.R155H	VSTM2A_ENST00000404951.1_Missense_Mutation_p.R155H|VSTM2A_ENST00000302287.3_Missense_Mutation_p.R155H|VSTM2A_ENST00000402613.3_Missense_Mutation_p.R155H|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Missense_Mutation_p.R154H	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	155						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			AGCCATGCCCGCAGAATGCAG	0.582																																						ENST00000302287.3																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16						c.(463-465)cGc>cAc		V-set and transmembrane domain containing 2A		G	HIS/ARG	0,4406		0,0,2203	56	54	55		464	5.1	0.9	7		55	1,8597	1.2+/-3.3	0,1,4298	no	missense	VSTM2A	NM_182546.2	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	155/237	54617693	1,13003	2203	4299	6502	SO:0001583	missense	222008					extracellular region		g.chr7:54617693G>A	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"Immunoglobulin superfamily / V-set domain containing"	28499	protein-coding gene	gene with protein product			"V-set and transmembrane domain containing 2"	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.464G>A	7.37:g.54617693G>A	ENSP00000384967:p.Arg155His					VSTM2A_ENST00000402613.3_Missense_Mutation_p.R155H|VSTM2A_ENST00000407838.3_Missense_Mutation_p.R155H|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Missense_Mutation_p.R155H|VSTM2A_ENST00000402026.2_Missense_Mutation_p.R154H	p.R155H			Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		4	870	+			155					A4D2E9|B5MC94	Missense_Mutation	SNP	ENST00000407838.3	37	c.464G>A	CCDS5512.2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333205	0.81801	0.0	1.16E-4	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.49432	0.78;0.81;0.78;0.78;0.81	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.64571	0.2610	M	0.68952	2.095	0.42271	D	0.992052	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.991	T	0.64778	-0.6327	10	0.45353	T	0.12	-25.8697	12.0823	0.53677	0.0:0.1737:0.8263:0.0	.	155;155;155	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	H	155;155;155;154;155	ENSP00000303108:R155H;ENSP00000384967:R155H;ENSP00000384701:R155H;ENSP00000385933:R154H;ENSP00000384103:R155H	ENSP00000303108:R155H	R	+	2	0	VSTM2A	54585187	0.722000	0.28017	0.877000	0.34402	0.985000	0.73830	4.215000	0.58534	2.501000	0.84356	0.655000	0.94253	CGC		0.582	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		5	15	0	0	0	1	0	5	15					A	54617693	G	A	54617693	3	1	491	1	0	0	0	0	1	0	0	0	17226	1087	38	1	478	1	VSTM2A	7	54617693	Missense_Mutation	SNP	G	TCGA-ZG-A9LU-01A-11D-A41K-08	51664645	54617693	104520970	11	32659											
FBP1	2203	broad.mit.edu	37	chr9	97365824	97365824	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccttctccatgacgtaggCcatggggttgcattcgtaca	8	11	11	11	2	1	1	0	1	1	0	3	1	1	1	3	3	3	4	3	3	2	5			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr9:97365824C>G	ENST00000375326.4	-	7	1052	c.856G>C	c.(856-858)Gcc>Ccc	p.A286P	FBP1_ENST00000415431.1_Missense_Mutation_p.A286P	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	286					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	ATGACGTAGGCCATGGGGTTG	0.537											OREG0019330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(142;590 2466 25593 44496)	ENST00000415431.1																			0				kidney(1)|liver(1)|lung(1)	3						c.(856-858)Gcc>Ccc		fructose-1,6-bisphosphatase 1	Adenosine monophosphate(DB00131)						82	81	81					9																	97365824		2203	4300	6503	SO:0001583	missense	2203				gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	g.chr9:97365824C>G	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.856G>C	9.37:g.97365824C>G	ENSP00000364475:p.Ala286Pro		OREG0019330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1327	FBP1_ENST00000375326.4_Missense_Mutation_p.A286P	p.A286P	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN			8	1085	-		Acute lymphoblastic leukemia(62;0.136)	286					O75571|Q53F94|Q96E46	Missense_Mutation	SNP	ENST00000375326.4	37	c.856G>C	CCDS6712.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424825	0.96111	.	.	ENSG00000165140	ENST00000375326;ENST00000415431	D;D	0.81499	-1.5;-1.5	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.94430	0.8208	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96312	0.9229	10	0.87932	D	0	-34.643	19.3331	0.94299	0.0:1.0:0.0:0.0	.	286	P09467	F16P1_HUMAN	P	286	ENSP00000364475:A286P;ENSP00000408025:A286P	ENSP00000364475:A286P	A	-	1	0	FBP1	96405645	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.607000	0.82883	2.802000	0.96397	0.655000	0.94253	GCC		0.537	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053187.1	NM_000507		3	28	0	0	0	1	0	3	28					G	97365824	C	G	97365824	3	3	491	1	0	0	0	0	1	0	0	0	5705	739	26	5	164	5	FBP1	9	97365824	Missense_Mutation	SNP	C	TCGA-ZG-A9LU-01A-11D-A41K-08		97365824	43847607	12	32660											
SVEP1	79987	broad.mit.edu	37	chr9	113231326	113231326	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttgataggatccgatccgGcagctttcacaggtgaaatg	10	11	11	9	2	2	2	1	2	1	0	4	4	4	3	2	3	1	2	2	3	2	3			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr9:113231326G>A	ENST00000401783.2	-	17	3390	c.3054C>T	c.(3052-3054)tgC>tgT	p.C1018C	SVEP1_ENST00000302728.8_Silent_p.C1018C|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.C995C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1018					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			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						ATCCGATCCGGCAGCTTTCAC	0.423																																						ENST00000401783.2																			0				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						c.(3052-3054)tgC>tgT		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							87	83	85					9																	113231326		1838	4076	5914	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113231326G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3054C>T	9.37:g.113231326G>A						SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.C1018C|SVEP1_ENST00000374469.1_Silent_p.C995C	p.C1018C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			17	3390	-			1018					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.3054C>T	CCDS48004.1																																																																																				0.423	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	47	0	0	0	1	0	3	47					A	113231326	G	A	113231326	2	1	491	1	0	0	0	0	0	0	0	1	15417	1195	42	3		3	SVEP1	9	113231326	Silent	SNP	G	TCGA-ZG-A9LU-01A-11D-A41K-08	15865502	113231326	27982105	13	32661											
KCNT1	57582	broad.mit.edu	37	chr9	138641963	138641963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtccaggtggagttctacGtcaacgagaacaccttcaag	11	8	12	10	2	3	1	2	0	1	1	4	3	4	2	2	3	3	1	2	3	4	3			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr9:138641963G>A	ENST00000263604.3	+	3	217	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	KCNT1_ENST00000487664.1_Missense_Mutation_p.V44I|KCNT1_ENST00000298480.5_Missense_Mutation_p.V92I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V73I|KCNT1_ENST00000371757.2_Missense_Mutation_p.V92I|KCNT1_ENST00000490355.2_Missense_Mutation_p.V73I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V59I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V53I			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	73					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGAGTTCTACGTCAACGAGAA	0.607																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(274-276)Gtc>Atc		potassium channel, subfamily T, member 1							82	68	73					9																	138641963		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138641963G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.217G>A	9.37:g.138641963G>A	ENSP00000263604:p.Val73Ile					KCNT1_ENST00000490355.2_Missense_Mutation_p.V73I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V53I|KCNT1_ENST00000487664.1_Missense_Mutation_p.V44I|KCNT1_ENST00000263604.3_Missense_Mutation_p.V73I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V73I|KCNT1_ENST00000371757.2_Missense_Mutation_p.V92I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V59I	p.V92I			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	3	348	+		Myeloproliferative disorder(178;0.0821)	92					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.274G>A		.	.	.	.	.	.	.	.	.	.	g	22.2	4.255822	0.80135	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T;T	0.50548	1.75;1.66;1.66;0.74;1.72	4.18	4.18	0.49190	.	0.000000	0.64402	D	0.000002	T	0.59622	0.2207	M	0.72353	2.195	0.80722	D	1	D;D	0.58268	0.97;0.982	P;P	0.53006	0.522;0.715	T	0.66630	-0.5875	10	0.59425	D	0.04	-9.5267	15.8483	0.78907	0.0:0.0:1.0:0.0	.	92;44	B9EGP2;G5E9V0	.;.	I	44;92;92;39;53;59;73;73;73	ENSP00000417851:V44I;ENSP00000298480:V92I;ENSP00000360822:V92I;ENSP00000420764:V39I;ENSP00000263604:V73I	ENSP00000263604:V73I	V	+	1	0	KCNT1	137781784	1.000000	0.71417	0.951000	0.38953	0.904000	0.53231	9.449000	0.97603	2.053000	0.61076	0.561000	0.74099	GTC		0.607	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		4	45	0	0	0	1	0	4	45					A	138641963	G	A	138641963	3	1	491	1	0	0	0	0	1	0	0	0	8091	1145	40	1	284	1	KCNT1	9	138641963	Missense_Mutation	SNP	G	TCGA-ZG-A9LU-01A-11D-A41K-08	25410637	138641963	2571468	14	32662											
SORCS1	114815	broad.mit.edu	37	chr10	108434877	108434877	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggaatagatgtgaaacTgtatttgctccaagatctcc	13	12	9	7	0	1	3	0	1	1	2	3	4	2	4	2	1	2	2	2	1	6	3			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr10:108434877T>A	ENST00000263054.6	-	14	1877	c.1870A>T	c.(1870-1872)Agt>Tgt	p.S624C	SORCS1_ENST00000369698.1_Missense_Mutation_p.S159C|SORCS1_ENST00000344440.6_Missense_Mutation_p.S624C	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	624					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			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)		GATGTGAAACTGTATTTGCTC	0.388																																						ENST00000263054.6																			0				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						c.(1870-1872)Agt>Tgt		sortilin-related VPS10 domain containing receptor 1							124	117	119					10																	108434877		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108434877T>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1870A>T	10.37:g.108434877T>A	ENSP00000263054:p.Ser624Cys					SORCS1_ENST00000344440.6_Missense_Mutation_p.S624C|SORCS1_ENST00000369698.1_Missense_Mutation_p.S159C	p.S624C	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	14	1877	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	624					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1870A>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.235190	0.79800	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.31510	1.49;1.49;1.49	5.92	5.92	0.95590	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.49729	0.1574	M	0.64997	1.995	0.42578	D	0.993202	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.72075	0.947;0.976;0.976;0.947;0.976	T	0.49360	-0.8948	9	.	.	.	-17.8461	10.6656	0.45728	0.0:0.071:0.0:0.929	.	624;624;624;624;624	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	C	159;624;624	ENSP00000358712:S159C;ENSP00000263054:S624C;ENSP00000345964:S624C	.	S	-	1	0	SORCS1	108424867	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.971000	0.70440	2.266000	0.75297	0.533000	0.62120	AGT		0.388	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		3	62	0	0	0	1	0	3	62					A	108434877	T	A	108434877	3	1	491	1	0	0	0	0	1	0	0	0	14930	1580	55	5	1922	5	SORCS1	10	108434877	Missense_Mutation	SNP	T	TCGA-ZG-A9LU-01A-11D-A41K-08		108434877	27099870	15	32663											
PNLIP	5406	broad.mit.edu	37	chr10	118315007	118315007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagattgtggacatagacGgaatctgggaaggtagaact	13	9	13	6	1	2	3	1	0	1	3	2	6	2	6	0	4	1	1	0	4	5	3	rs62623373		TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr10:118315007G>A	ENST00000369221.2	+	8	827	c.799G>A	c.(799-801)Gga>Aga	p.G267R		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	267					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GGACATAGACGGAATCTGGGA	0.398																																						ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(799-801)Gga>Aga		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)						150	154	153					10																	118315007		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118315007G>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.799G>A	10.37:g.118315007G>A	ENSP00000358223:p.Gly267Arg						p.G267R	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	8	827	+			267					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.799G>A	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633522	0.29068	.	.	ENSG00000175535	ENST00000369221	D	0.90900	-2.75	6.16	5.26	0.73747	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.90923	0.7147	M	0.84846	2.72	0.58432	D	0.999992	P	0.44946	0.846	B	0.38562	0.276	D	0.91652	0.5335	10	0.62326	D	0.03	.	14.4868	0.67622	0.0709:0.0:0.9291:0.0	rs62623373	267	P16233	LIPP_HUMAN	R	267	ENSP00000358223:G267R	ENSP00000358223:G267R	G	+	1	0	PNLIP	118304997	1.000000	0.71417	0.176000	0.23000	0.413000	0.31143	4.838000	0.62803	1.628000	0.50416	0.650000	0.86243	GGA		0.398	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		7	118	0	0	0	1	0	7	118					A	118315007	G	A	118315007	3	1	491	1	0	0	0	0	1	0	0	0	12149	1117	39	2	825	2	PNLIP	10	118315007	Missense_Mutation	SNP	G	TCGA-ZG-A9LU-01A-11D-A41K-08	9880130	118315007	17219740	16	32664											
DLG2	1740	broad.mit.edu	37	chr11	84245658	84245658	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagacatatccatggacattTtctatttgagagaggttctt	12	15	8	6	0	2	3	0	1	2	2	3	5	3	4	1	2	0	1	1	2	3	7			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr11:84245658T>C	ENST00000532653.1	-	2	461	c.159A>G	c.(157-159)gaA>gaG	p.E53E	DLG2_ENST00000543673.1_Silent_p.E158E|DLG2_ENST00000398309.2_Silent_p.E53E|DLG2_ENST00000524982.1_Silent_p.E53E|DLG2_ENST00000376104.2_Silent_p.E158E			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CATGGACATTTTCTATTTGAG	0.418																																						ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(157-159)gaA>gaG		discs, large homolog 2 (Drosophila)							180	170	173					11																	84245658		1878	4100	5978	SO:0001819	synonymous_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84245658T>C	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.159A>G	11.37:g.84245658T>C						DLG2_ENST00000376104.2_Silent_p.E158E|DLG2_ENST00000532653.1_Silent_p.E53E|DLG2_ENST00000524982.1_Silent_p.E53E|DLG2_ENST00000543673.1_Silent_p.E158E	p.E53E	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			2	629	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	53					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000532653.1	37	c.159A>G																																																																																					0.418	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		4	81	0	0	0	1	0	4	81					C	84245658	T	C	84245658	2	2	491	1	0	0	0	0	0	0	0	1	4555	1838	64	4		4	DLG2	11	84245658	Silent	SNP	T	TCGA-ZG-A9LU-01A-11D-A41K-08		84245658	50760858	17	32665											
OR8B8	26493	broad.mit.edu	37	chr11	124310141	124310141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttgagcatgggcaccaCagtggtatagaatagggaag	12	8	16	5	0	0	2	0	1	0	1	0	3	0	3	1	4	1	4	1	4	5	4			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr11:124310141C>T	ENST00000328064.2	-	1	913	c.841G>A	c.(841-843)Gtg>Atg	p.V281M		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	281					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		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)		ATGGGCACCACAGTGGTATAG	0.408																																						ENST00000328064.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(841-843)Gtg>Atg		olfactory receptor, family 8, subfamily B, member 8							101	92	95					11																	124310141		2201	4299	6500	SO:0001583	missense	26493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124310141C>T	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"GPCR / Class A : Olfactory receptors"	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.841G>A	11.37:g.124310141C>T	ENSP00000330280:p.Val281Met						p.V281M	NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	913	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	281					A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	37	c.841G>A	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081226	0.36758	.	.	ENSG00000197125	ENST00000328064	T	0.00297	8.23	3.81	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.171089	0.27411	N	0.019483	T	0.00468	0.0015	M	0.84326	2.69	0.25203	N	0.990039	P	0.46706	0.883	P	0.50162	0.633	T	0.30707	-0.9969	10	0.66056	D	0.02	.	14.088	0.64971	0.0:0.8474:0.1526:0.0	.	281	Q15620	OR8B8_HUMAN	M	281	ENSP00000330280:V281M	ENSP00000330280:V281M	V	-	1	0	OR8B8	123815351	0.000000	0.05858	0.879000	0.34478	0.697000	0.40408	-0.285000	0.08410	1.195000	0.43115	-0.122000	0.15005	GTG		0.408	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		8	77	0	0	0	1	0	8	77					T	124310141	C	T	124310141	3	4	491	1	0	0	0	0	1	0	0	0	11230	478	17	3	97	3	OR8B8	11	124310141	Missense_Mutation	SNP	C	TCGA-ZG-A9LU-01A-11D-A41K-08	40064483	124310141	10696375	18	32666											
PDS5B	23047	broad.mit.edu	37	chr13	33344887	33344888	+	Frame_Shift_Ins	INS	-	-	A																															acgccatcaccatcacaaccINSaaaaaaaaatgtgtaagttg																										TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr13:33344887_33344888insA	ENST00000315596.10	+	33	4346_4347	c.4160_4161insA	c.(4159-4164)ccaaaafs	p.PK1387fs		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1387					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.N1390fs*4(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)		CCATCACAACCAAAAAAAAATG	0.337																																						ENST00000315596.10																			1	Deletion - Frameshift(1)	p.N1390fs*4(1)	ovary(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						c.(4159-4161)caafs		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)																																				SO:0001589	frameshift_variant	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33344887_33344888insA	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.4169dupA	13.37:g.33344896_33344896dupA	ENSP00000313851:p.Pro1387fs						p.Q1387fs	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		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)	33	4346_4347	+		Lung SC(185;0.0367)	1387					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Frame_Shift_Ins	INS	ENST00000315596.10	37	c.4160_4161insA	CCDS41878.1																																																																																				0.337	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		2	4						2	4	---	---	---	---	A	33344888	-	A	33344887	7	5	491	1	0	1	1	0	0	0	0	0	11692	594	21	0	4286	0	PDS5B	13	33344887	Frame_Shift_Ins	INS	-	TCGA-ZG-A9LU-01A-11D-A41K-08		33344887	81824991	19	32667											
VPS18	57617	broad.mit.edu	37	chr15	41192034	41192034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccacttcctgctgctactgGcagaccgggtggaggcagtg	6	9	14	12	1	0	1	0	0	0	1	2	2	2	2	3	4	3	4	3	4	1	2			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr15:41192034G>A	ENST00000220509.5	+	4	1357	c.1018G>A	c.(1018-1020)Gca>Aca	p.A340T	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	340					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCTGCTACTGGCAGACCGGGT	0.632																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1018-1020)Gca>Aca		vacuolar protein sorting 18 homolog (S. cerevisiae)							60	62	61					15																	41192034		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41192034G>A	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1018G>A	15.37:g.41192034G>A	ENSP00000220509:p.Ala340Thr					VPS18_ENST00000558474.1_Intron	p.A340T	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1357	+		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)	340					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.1018G>A	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	8.649	0.897878	0.17686	.	.	ENSG00000104142	ENST00000220509	T	0.43688	0.94	5.44	5.44	0.79542	Pep3/Vps18/deep orange (1);	0.271361	0.41500	D	0.000875	T	0.23249	0.0562	N	0.14661	0.345	0.80722	D	1	B	0.28258	0.205	B	0.25759	0.063	T	0.10823	-1.0613	10	0.14656	T	0.56	-14.0557	10.3582	0.43977	0.0:0.2876:0.5879:0.1244	.	340	Q9P253	VPS18_HUMAN	T	340	ENSP00000220509:A340T	ENSP00000220509:A340T	A	+	1	0	VPS18	38979326	1.000000	0.71417	0.991000	0.47740	0.947000	0.59692	3.291000	0.51764	2.702000	0.92279	0.655000	0.94253	GCA		0.632	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			4	63	0	0	0	1	0	4	63					A	41192034	G	A	41192034	3	1	491	1	0	0	0	0	1	0	0	0	17191	1203	42	3	1032	3	VPS18	15	41192034	Missense_Mutation	SNP	G	TCGA-ZG-A9LU-01A-11D-A41K-08		41192034	61339358	20	32668											
ZNF609	23060	broad.mit.edu	37	chr15	64967480	64967480	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcccttccattggaggCagtagccgccttgaaaacac	10	7	9	15	1	0	1	0	1	0	0	1	2	1	2	5	2	3	2	5	2	3	4			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr15:64967480C>T	ENST00000326648.3	+	4	2555	c.2427C>T	c.(2425-2427)ggC>ggT	p.G809G		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	809						nucleus (GO:0005634)	metal ion binding (GO:0046872)			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						CCATTGGAGGCAGTAGCCGCC	0.557																																						ENST00000326648.3																			0				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						c.(2425-2427)ggC>ggT		zinc finger protein 609							71	68	69					15																	64967480		2203	4297	6500	SO:0001819	synonymous_variant	23060					nucleus	zinc ion binding	g.chr15:64967480C>T	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2427C>T	15.37:g.64967480C>T							p.G809G	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	2555	+			809					Q0D2I2	Silent	SNP	ENST00000326648.3	37	c.2427C>T	CCDS32270.1																																																																																				0.557	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		4	67	0	0	0	1	0	4	67					T	64967480	C	T	64967480	2	4	491	1	0	0	0	0	0	0	0	1	18032	697	25	3		3	ZNF609	15	64967480	Silent	SNP	C	TCGA-ZG-A9LU-01A-11D-A41K-08	23775446	64967480	37563912	21	32669											
CP110	9738	broad.mit.edu	37	chr16	19547945	19547945	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgagtatgccagttttagcTagcttttcgaaagtggacat	11	14	10	6	1	0	1	0	1	0	0	1	3	0	2	1	1	3	4	1	1	4	6			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr16:19547945T>G	ENST00000381396.5	+	4	1201	c.954T>G	c.(952-954)gcT>gcG	p.A318A	CCP110_ENST00000396208.2_Silent_p.A318A|CCP110_ENST00000396212.2_Silent_p.A318A	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	318					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CAGTTTTAGCTAGCTTTTCGA	0.393																																						ENST00000396212.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						c.(952-954)gcT>gcG		centriolar coiled coil protein 110kDa							63	60	61					16																	19547945		2197	4300	6497	SO:0001819	synonymous_variant	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19547945T>G	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.954T>G	16.37:g.19547945T>G						CCP110_ENST00000396208.2_Silent_p.A318A|CCP110_ENST00000381396.5_Silent_p.A318A	p.A318A	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN			5	1390	+			318					B7WP23|O43335|Q68DV9|Q8NE13	Silent	SNP	ENST00000381396.5	37	c.954T>G	CCDS55992.1																																																																																				0.393	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		5	70	0	0	0	1	0	5	70					G	19547945	T	G	19547945	2	3	491	1	0	0	0	0	0	0	0	1	3788	1509	53	5		5	CP110	16	19547945	Silent	SNP	T	TCGA-ZG-A9LU-01A-11D-A41K-08		19547945	70806808	22	32670											
PPP4C	5531	broad.mit.edu	37	chr16	30093814	30093814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgttccccaggtgtgcggcGacatccatggacaattctat	8	11	10	12	2	1	0	0	0	1	0	3	2	3	1	3	3	1	1	3	3	2	3			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr16:30093814G>A	ENST00000279387.7	+	4	328	c.160G>A	c.(160-162)Gac>Aac	p.D54N	PPP4C_ENST00000561610.1_Missense_Mutation_p.D54N	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	54					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GGTGTGCGGCGACATCCATGG	0.522																																						ENST00000279387.7																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						c.(160-162)Gac>Aac		protein phosphatase 4, catalytic subunit							104	89	94					16																	30093814		2197	4300	6497	SO:0001583	missense	5531				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	g.chr16:30093814G>A		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9319	protein-coding gene	gene with protein product	"protein phosphatase X, catalytic subunit"	602035	"protein phosphatase 4 (formerly X), catalytic subunit"			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.160G>A	16.37:g.30093814G>A	ENSP00000279387:p.Asp54Asn					PPP4C_ENST00000561610.1_Missense_Mutation_p.D54N	p.D54N	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN			4	328	+			54					P33172	Missense_Mutation	SNP	ENST00000279387.7	37	c.160G>A	CCDS10669.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450968	0.63290	.	.	ENSG00000149923	ENST00000279387	D	0.99842	-7.1	5.88	4.93	0.64822	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.99837	0.9926	H	0.97783	4.075	0.80722	D	1	D	0.55385	0.971	P	0.51657	0.676	D	0.96754	0.9556	10	0.66056	D	0.02	-1.226	15.362	0.74483	0.0:0.0:0.8591:0.1409	.	54	P60510	PP4C_HUMAN	N	54	ENSP00000279387:D54N	ENSP00000279387:D54N	D	+	1	0	PPP4C	30001315	1.000000	0.71417	0.849000	0.33467	0.366000	0.29705	9.363000	0.97131	1.489000	0.48450	0.561000	0.74099	GAC		0.522	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		6	62	0	0	0	1	0	6	62					A	30093814	G	A	30093814	3	1	491	1	0	0	0	0	1	0	0	0	12402	1058	37	2	170	2	PPP4C	16	30093814	Missense_Mutation	SNP	G	TCGA-ZG-A9LU-01A-11D-A41K-08	10545869	30093814	60260939	23	32671											
TCF4	6925	broad.mit.edu	37	chr18	52896292	52896292	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctctggtgtcaggtcCtcatcgtcattattgctgtg	4	17	10	10	1	5	0	3	0	2	0	7	0	6	0	1	2	2	2	1	2	1	3			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr18:52896292C>T	ENST00000356073.4	-	18	2264	c.1653G>A	c.(1651-1653)gaG>gaA	p.E551E	TCF4_ENST00000568740.1_Silent_p.E526E|TCF4_ENST00000354452.3_Silent_p.E555E|TCF4_ENST00000564403.2_Silent_p.E561E|TCF4_ENST00000568673.1_Silent_p.E531E|TCF4_ENST00000566279.1_Silent_p.E495E|TCF4_ENST00000543082.1_Silent_p.E509E|TCF4_ENST00000565018.2_Silent_p.E555E|TCF4_ENST00000567880.1_Silent_p.E491E|TCF4_ENST00000570177.2_Silent_p.E421E|TCF4_ENST00000566286.1_Silent_p.E548E|TCF4_ENST00000398339.1_Silent_p.E657E|TCF4_ENST00000564999.1_Silent_p.E551E|TCF4_ENST00000540999.1_Silent_p.E527E|TCF4_ENST00000544241.2_Silent_p.E484E|TCF4_ENST00000537578.1_Silent_p.E531E|TCF4_ENST00000457482.3_Silent_p.E395E|TCF4_ENST00000561992.1_Silent_p.E421E|TCF4_ENST00000564228.1_Silent_p.E480E|TCF4_ENST00000537856.3_Silent_p.E421E|TCF4_ENST00000570287.2_Silent_p.E391E|TCF4_ENST00000561831.3_Silent_p.E391E	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	551					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			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)		GTGTCAGGTCCTCATCGTCAT	0.493																																						ENST00000354452.3																			0				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						c.(1663-1665)gaG>gaA		transcription factor 4							153	136	142					18																	52896292		2203	4300	6503	SO:0001819	synonymous_variant	6925				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	g.chr18:52896292C>T	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1653G>A	18.37:g.52896292C>T						TCF4_ENST00000564999.1_Silent_p.E551E|TCF4_ENST00000540999.1_Silent_p.E527E|TCF4_ENST00000544241.2_Silent_p.E484E|TCF4_ENST00000537856.3_Silent_p.E421E|TCF4_ENST00000457482.3_Silent_p.E395E|TCF4_ENST00000564228.1_Silent_p.E480E|TCF4_ENST00000567880.1_Silent_p.E491E|TCF4_ENST00000356073.4_Silent_p.E551E|TCF4_ENST00000566279.1_Silent_p.E495E|TCF4_ENST00000543082.1_Silent_p.E509E|TCF4_ENST00000564403.2_Silent_p.E561E|TCF4_ENST00000561831.3_Silent_p.E391E|TCF4_ENST00000568673.1_Silent_p.E531E|TCF4_ENST00000565018.2_Silent_p.E555E|TCF4_ENST00000561992.1_Silent_p.E421E|TCF4_ENST00000398339.1_Silent_p.E657E|TCF4_ENST00000568740.1_Silent_p.E526E|TCF4_ENST00000537578.1_Silent_p.E531E|TCF4_ENST00000570287.2_Silent_p.E391E|TCF4_ENST00000570177.2_Silent_p.E421E|TCF4_ENST00000566286.1_Silent_p.E548E	p.E555E	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	18	2276	-			551					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Silent	SNP	ENST00000356073.4	37	c.1665G>A	CCDS11960.1																																																																																				0.493	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		4	93	0	0	0	1	0	4	93					T	52896292	C	T	52896292	2	4	491	1	0	0	0	0	0	0	0	1	15692	680	24	3		3	TCF4	18	52896292	Silent	SNP	C	TCGA-ZG-A9LU-01A-11D-A41K-08		52896292	25180956	24	32672											
MUC16	94025	broad.mit.edu	37	chr19	9057373	9057373	+	Silent	SNP	A	A	G																															ggtcgtgacaggtaaggacaAcagagaagatgaagagctag																										TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr19:9057373A>G	ENST00000397910.4	-	3	30276	c.30073T>C	c.(30073-30075)Ttg>Ctg	p.L10025L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10027	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				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						GGTAAGGACAACAGAGAAGAT	0.448																																						ENST00000397910.4																			0				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						c.(30073-30075)Ttg>Ctg		mucin 16, cell surface associated							69	66	67					19																	9057373		1977	4151	6128	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057373A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30073T>C	19.37:g.9057373A>G							p.L10025L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30276	-			10027			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.30073T>C	CCDS54212.1																																																																																				0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	30	0	0	0	1	0	9	30					G	9057373	A	G	9057373	2	3	491	1	0	0	0	0	0	0	0	1	9973	40	2	4		4	MUC16	19	9057373	Silent	SNP	A	TCGA-ZG-A9LU-01A-11D-A41K-08		9057373	50071610	25	32673	159	2									
MUC16	94025	broad.mit.edu	37	chr19	9057380	9057380	+	Silent	SNP	A	A	T																															acaggtaaggacaacagagaAgatgaagagctagttttttc																										TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr19:9057380A>T	ENST00000397910.4	-	3	30269	c.30066T>A	c.(30064-30066)tcT>tcA	p.S10022S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10024	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				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						ACAACAGAGAAGATGAAGAGC	0.438																																						ENST00000397910.4																			0				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						c.(30064-30066)tcT>tcA		mucin 16, cell surface associated							67	65	66					19																	9057380		1965	4150	6115	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057380A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30066T>A	19.37:g.9057380A>T							p.S10022S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30269	-			10024			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.30066T>A	CCDS54212.1																																																																																				0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	29	0	0	0	1	0	9	29					T	9057380	A	T	9057380	2	4	491	1	0	0	0	0	0	0	0	1	9973	59	3	5		5	MUC16	19	9057380	Silent	SNP	A	TCGA-ZG-A9LU-01A-11D-A41K-08	7	9057380	50071603	26	32674	159	2									
PSG8	440533	broad.mit.edu	37	chr19	43258479	43258479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccaaggatactgggatccGcttaccagagacttttactg	10	11	10	10	1	0	1	0	0	0	1	1	4	1	3	3	2	4	1	3	2	4	4	rs146638942		TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr19:43258479G>A	ENST00000306511.4	-	5	1346	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	PSG8_ENST00000404209.4_Intron|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	417						extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ACTGGGATCCGCTTACCAGAG	0.478													.|||	1	0.000199681	0	0	5008	,	,		18406	0.001		0	False		,,,				2504	0					ENST00000306511.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1249-1251)Cgg>Tgg		pregnancy specific beta-1-glycoprotein 8							192	204	200					19																	43258479		2203	4299	6502	SO:0001583	missense	0					extracellular region		g.chr19:43258479G>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.1249C>T	19.37:g.43258479G>A	ENSP00000305005:p.Arg417Trp					PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000404209.4_Intron	p.R417W	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN			5	1346	-		Prostate(69;0.00899)	417					A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.1249C>T	CCDS33037.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	N	3.322	-0.138548	0.06669	.	.	ENSG00000124467	ENST00000407488;ENST00000306511	T	0.20463	2.07	1.55	0.408	0.16377	.	.	.	.	.	T	0.05686	0.0149	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35025	-0.9805	9	0.51188	T	0.08	.	4.5273	0.11988	0.5853:0.0:0.4147:0.0	.	324;417	B5MCQ0;Q9UQ74	.;PSG8_HUMAN	W	324;417	ENSP00000305005:R417W	ENSP00000305005:R417W	R	-	1	2	PSG8	47950319	0.019000	0.18553	0.002000	0.10522	0.004000	0.04260	0.244000	0.18124	-0.768000	0.04626	-1.451000	0.01035	CGG		0.478	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			5	185	0	0	0	1	0	5	185					A	43258479	G	A	43258479	3	1	491	1	0	0	0	0	1	0	0	0	12661	1086	38	1	56	1	PSG8	19	43258479	Missense_Mutation	SNP	G	TCGA-ZG-A9LU-01A-11D-A41K-08	34201099	43258479	15870504	27	32675											
ZNF841	284371	broad.mit.edu	37	chr19	52569155	52569155	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgaacgctgagtataggcTttgccacaatcattacattt	11	14	7	9	1	1	2	1	2	0	0	1	2	1	2	1	1	3	3	1	1	5	6			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr19:52569155T>C	ENST00000426391.2	-	5	2183	c.1632A>G	c.(1630-1632)aaA>aaG	p.K544K	CTC-471J1.2_ENST00000569091.1_RNA|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Silent_p.K660K|ZNF841_ENST00000389534.4_Silent_p.K660K|ZNF841_ENST00000359973.2_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	544					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GAGTATAGGCTTTGCCACAAT	0.413																																						ENST00000389534.4																			0				breast(1)|endometrium(4)|kidney(3)|lung(3)	11						c.(1978-1980)aaA>aaG		zinc finger protein 841							115	106	108					19																	52569155		692	1591	2283	SO:0001819	synonymous_variant	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52569155T>C	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1632A>G	19.37:g.52569155T>C						ZNF841_ENST00000594295.1_Silent_p.K660K|ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000426391.2_Silent_p.K544K|ZNF432_ENST00000598446.1_Intron	p.K660K	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN			7	2439	-			544					B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Silent	SNP	ENST00000426391.2	37	c.1980A>G																																																																																					0.413	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		12	66	0	0	0	1	0	12	66					C	52569155	T	C	52569155	2	2	491	1	0	0	0	0	0	0	0	1	18186	1606	56	4		4	ZNF841	19	52569155	Silent	SNP	T	TCGA-ZG-A9LU-01A-11D-A41K-08	9310676	52569155	6559828	28	32676											
SIRPB2	284759	broad.mit.edu	37	chr20	1460495	1460495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcagtggttctgatgtccGttggatcatgggcattaccc	7	14	11	9	1	3	1	2	1	1	0	4	2	4	2	2	3	1	3	2	3	1	4	rs200805923		TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr20:1460495G>A	ENST00000359801.3	-	2	337	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000608747.1_Intron	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	94	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCTGATGTCCGTTGGATCATG	0.448													G|||	1	0.000199681	8e-04	0	5008	,	,		22234	0		0	False		,,,				2504	0					ENST00000359801.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(301-303)Cgg>Tgg		signal-regulatory protein beta 2							142	126	131					20																	1460495		1568	3582	5150	SO:0001583	missense	284759					integral to membrane		g.chr20:1460495G>A	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16247	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type 1-like", "protein tyrosine phosphatase, non-receptor type substrate 1-like 3"	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.301C>T	20.37:g.1460495G>A	ENSP00000352849:p.Arg101Trp					SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_Intron	p.R101W	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN			2	337	-			101			Ig-like V-type 1.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.301C>T	CCDS42849.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.57	1.679471	0.29783	.	.	ENSG00000196209	ENST00000359801	T	0.41758	0.99	3.57	-0.931	0.10438	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.624730	0.01279	N	0.009679	T	0.28300	0.0699	N	0.22421	0.69	0.09310	N	1	B	0.28552	0.215	B	0.18561	0.022	T	0.24799	-1.0150	10	0.66056	D	0.02	-17.5426	5.2271	0.15401	0.109:0.0:0.3251:0.566	.	101	Q5JXA9	SIRB2_HUMAN	W	101	ENSP00000352849:R101W	ENSP00000352849:R101W	R	-	1	2	SIRPB2	1408495	0.000000	0.05858	0.001000	0.08648	0.367000	0.29736	-1.324000	0.02690	-0.117000	0.11872	-0.136000	0.14681	CGG		0.448	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		7	49	0	0	0	1	0	7	49					A	1460495	G	A	1460495	3	1	491	1	0	0	0	0	1	0	0	0	14334	1144	40	1	743	1	SIRPB2	20	1460495	Missense_Mutation	SNP	G	TCGA-ZG-A9LU-01A-11D-A41K-08		1460495	61565025	29	32677											
RALGAPB	57148	broad.mit.edu	37	chr20	37153536	37153536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtgacttgaaagggattGatgttgtggttccttacttt	7	17	12	5	0	0	3	0	3	0	0	1	4	1	4	1	2	1	3	1	2	2	6			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr20:37153536G>A	ENST00000262879.6	+	11	2019	c.1735G>A	c.(1735-1737)Gat>Aat	p.D579N	RALGAPB_ENST00000397040.1_Missense_Mutation_p.D579N|RALGAPB_ENST00000397042.3_Missense_Mutation_p.D579N|RALGAPB_ENST00000397038.1_Missense_Mutation_p.D357N			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	579					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			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						GAAAGGGATTGATGTTGTGGT	0.403																																						ENST00000262879.6																			0				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						c.(1735-1737)Gat>Aat		Ral GTPase activating protein, beta subunit (non-catalytic)							304	279	288					20																	37153536		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37153536G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1735G>A	20.37:g.37153536G>A	ENSP00000262879:p.Asp579Asn					RALGAPB_ENST00000397040.1_Missense_Mutation_p.D579N|RALGAPB_ENST00000397038.1_Missense_Mutation_p.D357N|RALGAPB_ENST00000397042.3_Missense_Mutation_p.D579N	p.D579N			Q86X10	RLGPB_HUMAN			11	2019	+			579					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.1735G>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	9.999	1.233048	0.22626	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.65732	-0.17;-0.17	5.51	5.51	0.81932	.	0.047212	0.85682	D	0.000000	T	0.31765	0.0807	N	0.01352	-0.895	0.50171	D	0.99985	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.08055	0.002;0.003;0.003;0.003	T	0.30909	-0.9962	10	0.16896	T	0.51	.	12.7286	0.57185	0.0753:0.0:0.9247:0.0	.	407;579;579;579	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	N	579;579;579;357;579;407	ENSP00000262879:D579N;ENSP00000380233:D579N	ENSP00000262879:D579N	D	+	1	0	RALGAPB	36586950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.457000	0.66672	2.587000	0.87381	0.561000	0.74099	GAT		0.403	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		24	130	0	0	0	1	0	24	130					A	37153536	G	A	37153536	3	1	491	1	0	0	0	0	1	0	0	0	13015	1290	45	3	1773	3	RALGAPB	20	37153536	Missense_Mutation	SNP	G	TCGA-ZG-A9LU-01A-11D-A41K-08	35693041	37153536	25871984	30	32678											
TMPRSS15	5651	broad.mit.edu	37	chr21	19715874	19715874	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccataattccaattgtcTccataatttccttccttttg	8	19	3	11	0	1	0	0	0	1	0	6	0	5	0	5	0	0	0	5	0	3	8			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr21:19715874T>C	ENST00000284885.3	-	12	1410	c.1377A>G	c.(1375-1377)ggA>ggG	p.G459G		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	459	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCCAATTGTCTCCATAATTTC	0.294																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(1375-1377)ggA>ggG		transmembrane protease, serine 15							91	78	82					21																	19715874		2201	4293	6494	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19715874T>C		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1377A>G	21.37:g.19715874T>C							p.G459G	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			12	1410	-			459			MAM.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.1377A>G	CCDS13571.1																																																																																				0.294	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		7	91	0	0	0	1	0	7	91					C	19715874	T	C	19715874	2	2	491	1	0	0	0	0	0	0	0	1	16243	1538	54	4		4	TMPRSS15	21	19715874	Silent	SNP	T	TCGA-ZG-A9LU-01A-11D-A41K-08		19715874	28414021	31	32679											
MX2	4600	broad.mit.edu	37	chr21	42748856	42748856	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctaaggcccacaagccttGgccctaccggaggagaagtc	10	6	12	13	1	1	1	0	0	1	1	2	3	1	2	4	4	2	0	4	4	4	3			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr21:42748856G>A	ENST00000330714.3	+	2	207	c.23G>A	c.(22-24)tGg>tAg	p.W8*	MX2_ENST00000543692.1_Nonsense_Mutation_p.W8*	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	8					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CACAAGCCTTGGCCCTACCGG	0.512																																						ENST00000330714.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(22-24)tGg>tAg		myxovirus (influenza virus) resistance 2 (mouse)							67	70	69					21																	42748856		2203	4300	6503	SO:0001587	stop_gained	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42748856G>A		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.23G>A	21.37:g.42748856G>A	ENSP00000333657:p.Trp8*					MX2_ENST00000543692.1_Nonsense_Mutation_p.W8*	p.W8*	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			2	207	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	8					B7Z5D3|D3DSI7	Nonsense_Mutation	SNP	ENST00000330714.3	37	c.23G>A	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498905	0.26861	.	.	ENSG00000183486	ENST00000330714;ENST00000436410;ENST00000435611;ENST00000543692;ENST00000416447;ENST00000418103	.	.	.	2.25	-0.919	0.10478	.	3.168470	0.01204	N	0.007669	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9839	0.05962	0.1552:0.0:0.3708:0.474	.	.	.	.	X	8	.	ENSP00000333657:W8X	W	+	2	0	MX2	41670726	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.434000	0.06939	-0.239000	0.09710	0.313000	0.20887	TGG		0.512	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		4	51	0	0	0	1	0	4	51					A	42748856	G	A	42748856	4	1	491	1	0	0	0	0	0	1	0	0	9998	1357	47	3	25	3	MX2	21	42748856	Nonsense_Mutation	SNP	G	TCGA-ZG-A9LU-01A-11D-A41K-08	23032982	42748856	5381039	32	32680											
NHS	4810	broad.mit.edu	37	chrX	17750109	17750115	+	Frame_Shift_Del	DEL	CCAACAG	CCAACAG	-																															cagcagtaatgtgacaacccCcaacagccagaggtctcctg																										TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chrX:17750109_17750115delCCAACAG	ENST00000380060.3	+	8	4756_4762	c.4418_4424delCCAACAG	c.(4417-4425)cccaacagcfs	p.PNS1473fs	NHS_ENST00000398097.3_Frame_Shift_Del_p.PNS1317fs	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1494					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.P1317P(1)|p.P1473P(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GTGACAACCCCCAACAGCCAGAGGTCT	0.507																																						ENST00000380060.3																			2	Substitution - coding silent(2)	p.P1317P(1)|p.P1473P(1)	lung(2)	breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(4417-4425)ccfs		Nance-Horan syndrome (congenital cataracts and dental anomalies)																																				SO:0001589	frameshift_variant	4810					nucleus		g.chrX:17750109_17750115delCCAACAG		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4418_4424delCCAACAG	X.37:g.17750109_17750115delCCAACAG	ENSP00000369400:p.Pro1473fs					NHS_ENST00000398097.3_Frame_Shift_Del_p.PNS1317fs	p.PNS1473fs	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			8	4756_4762	+	Hepatocellular(33;0.183)		1473					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Frame_Shift_Del	DEL	ENST00000380060.3	37	c.4418_4424delCCAACAG	CCDS14181.1																																																																																				0.507	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		9	56						9	56	---	---	---	---	-	17750115	CCAACAG	-	17750109	7	5	491	1	0	1	0	1	0	0	0	0	10411	623	22	0	4553	0	NHS	23	17750109	Frame_Shift_Del	DEL	CCAACAG	TCGA-ZG-A9LU-01A-11D-A41K-08		17750109	137520451	33	32681											
USP9X	8239	broad.mit.edu	37	chrX	40988337	40988337	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgccccaccacagcttGaagatgaggaacctgcattt	11	9	10	11	0	0	4	0	3	0	1	0	5	0	5	4	1	4	2	4	1	2	2			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chrX:40988337G>T	ENST00000324545.8	+	3	814	c.181G>T	c.(181-183)Gaa>Taa	p.E61*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.E61*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	61					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACCACAGCTTGAAGATGAGGA	0.458																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(181-183)Gaa>Taa		ubiquitin specific peptidase 9, X-linked							106	97	100					X																	40988337		2203	4300	6503	SO:0001587	stop_gained	8239				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	g.chrX:40988337G>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.181G>T	X.37:g.40988337G>T	ENSP00000316357:p.Glu61*					USP9X_ENST00000378308.2_Nonsense_Mutation_p.E61*	p.E61*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			3	814	+			61					O75550|Q8WWT3|Q8WX12	Nonsense_Mutation	SNP	ENST00000324545.8	37	c.181G>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	38	6.730175	0.97796	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.195	0.89818	0.0:0.0:1.0:0.0	.	.	.	.	X	61	.	ENSP00000316357:E61X	E	+	1	0	USP9X	40873281	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.444000	0.97578	2.234000	0.73211	0.600000	0.82982	GAA		0.458	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		6	27	1	0	8.12818e-05	1	8.50624e-05	6	27					T	40988337	G	T	40988337	4	4	491	1	0	0	0	0	0	1	0	0	17087	1291	45	5	187	5	USP9X	23	40988337	Nonsense_Mutation	SNP	G	TCGA-ZG-A9LU-01A-11D-A41K-08	23238228	40988337	114282223	34	32682											
MFN2	9927	broad.mit.edu	37	chr1	12058885	12058885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgacaagttttgtctggatGctgatgtgtttgtgctggtg	5	18	14	4	0	1	2	0	2	1	0	1	3	1	3	0	2	2	4	0	2	1	4			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr1:12058885G>T	ENST00000235329.5	+	7	980	c.658G>T	c.(658-660)Gct>Tct	p.A220S	MFN2_ENST00000444836.1_Missense_Mutation_p.A220S	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	220	Dynamin-type G.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTGTCTGGATGCTGATGTGTT	0.552																																						ENST00000235329.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.(658-660)Gct>Tct		mitofusin 2							305	257	273					1																	12058885		2203	4300	6503	SO:0001583	missense	9927				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	g.chr1:12058885G>T	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.658G>T	1.37:g.12058885G>T	ENSP00000235329:p.Ala220Ser					MFN2_ENST00000444836.1_Missense_Mutation_p.A220S	p.A220S	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		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)	7	980	+	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)	220					A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	c.658G>T	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722752	0.89298	.	.	ENSG00000116688	ENST00000444836;ENST00000235329	D;D	0.96200	-3.94;-3.94	4.6	4.6	0.57074	Dynamin, GTPase domain (1);	0.057644	0.64402	D	0.000002	D	0.97670	0.9236	M	0.84846	2.72	0.80722	D	1	P	0.52170	0.951	D	0.67900	0.954	D	0.97943	1.0327	10	0.49607	T	0.09	-6.0188	16.798	0.85607	0.0:0.0:1.0:0.0	.	220	O95140	MFN2_HUMAN	S	220	ENSP00000416338:A220S;ENSP00000235329:A220S	ENSP00000235329:A220S	A	+	1	0	MFN2	11981472	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.379000	0.97198	2.274000	0.75844	0.655000	0.94253	GCT		0.552	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		23	165	1	0	5.26018e-13	1	5.77588e-13	23	165					T	12058885	G	T	12058885	3	4	492	1	0	0	0	0	1	0	0	0	9524	1319	46	5	676	5	MFN2	1	12058885	Missense_Mutation	SNP	G	TCGA-ZG-A9LY-01A-11D-A41K-08		12058885	237191736	1	32683											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887686	12887686	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcacttgaagtttccaTctcctgtgggaaaatagagg	11	11	10	9	0	1	2	0	1	1	1	4	3	3	3	3	2	1	2	3	2	4	3	rs59802947	byFrequency	TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr1:12887686T>C	ENST00000535591.1	-	3	366	c.171A>G	c.(169-171)agA>agG	p.R57R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	57					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R57R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGTTTCCATCTCCTGTGGG	0.468													.|||	5	0.000998403	8e-04	0	5008	,	,		21622	0.001		0	False		,,,				2504	0.0031					ENST00000535591.1																			1	Substitution - coding silent(1)	p.R57R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(169-171)agA>agG		PRAME family member 11																																				SO:0001819	synonymous_variant	440560							g.chr1:12887686T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.171A>G	1.37:g.12887686T>C							p.R57R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	366	-			57						Silent	SNP	ENST00000535591.1	37	c.171A>G	CCDS53268.1																																																																																				0.468	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		6	174	0	0	0	1	0	6	174					C	12887686	T	C	12887686	2	2	492	1	0	0	0	0	0	0	0	1	12427	1432	50	4		4	PRAMEF11	1	12887686	Silent	SNP	T	TCGA-ZG-A9LY-01A-11D-A41K-08	828801	12887686	236362935	2	32684											
DLGAP3	58512	broad.mit.edu	37	chr1	35370518	35370518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctctggggcagtgcccGtccctggcgctggcccgggc	1	6	19	15	3	1	0	0	0	1	0	2	0	2	0	3	7	1	3	3	7	0	0	rs144823481		TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr1:35370518G>A	ENST00000373347.1	-	3	735	c.467C>T	c.(466-468)aCg>aTg	p.T156M	DLGAP3_ENST00000235180.4_Missense_Mutation_p.T156M|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	156					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			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)				GGCAGTGCCCGTCCCTGGCGC	0.622																																						ENST00000373347.1																			0				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						c.(466-468)aCg>aTg		discs, large (Drosophila) homolog-associated protein 3			MET/THR	0,4396		0,0,2198	17	19	18		467	4.6	1	1	dbSNP_134	18	1,8561		0,1,4280	no	missense	DLGAP3	NM_001080418.1	81	0,1,6478	AA,AG,GG		0.0117,0.0,0.0077	benign	156/980	35370518	1,12957	2198	4281	6479	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370518G>A	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.467C>T	1.37:g.35370518G>A	ENSP00000362444:p.Thr156Met					DLGAP3_ENST00000235180.4_Missense_Mutation_p.T156M	p.T156M			O95886	DLGP3_HUMAN			3	735	-		Myeloproliferative disorder(586;0.0393)	156					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.467C>T	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127757	0.37533	0.0	1.17E-4	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.27256	1.68;1.68	4.57	4.57	0.56435	.	0.301596	0.27185	N	0.020531	T	0.15955	0.0384	N	0.14661	0.345	0.35159	D	0.770452	D	0.56287	0.975	B	0.40565	0.333	T	0.24190	-1.0167	10	0.72032	D	0.01	-3.6617	13.1999	0.59761	0.0:0.0:1.0:0.0	.	156	O95886	DLGP3_HUMAN	M	156	ENSP00000362444:T156M;ENSP00000235180:T156M	ENSP00000235180:T156M	T	-	2	0	DLGAP3	35143105	.	.	0.954000	0.39281	0.522000	0.34438	.	.	2.260000	0.74910	0.448000	0.29417	ACG		0.622	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		4	20	0	0	0	1	0	4	20					A	35370518	G	A	35370518	3	1	492	1	0	0	0	0	1	0	0	0	4561	1145	40	1	2512	1	DLGAP3	1	35370518	Missense_Mutation	SNP	G	TCGA-ZG-A9LY-01A-11D-A41K-08	22482832	35370518	213880103	3	32685											
DENND2C	163259	broad.mit.edu	37	chr1	115142031	115142031	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgctgccaggtgaacggaTacagtgtagctaccacagca	12	8	11	10	1	0	1	0	1	0	0	0	2	0	2	2	2	7	4	2	2	5	4			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr1:115142031T>C	ENST00000393274.1	-	16	2772	c.2147A>G	c.(2146-2148)tAt>tGt	p.Y716C	DENND2C_ENST00000393276.3_Missense_Mutation_p.Y659C|DENND2C_ENST00000393277.1_Intron|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	716	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTGAACGGATACAGTGTAGC	0.458																																						ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(2146-2148)tAt>tGt		DENN/MADD domain containing 2C							154	125	135					1																	115142031		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115142031T>C		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2147A>G	1.37:g.115142031T>C	ENSP00000376955:p.Tyr716Cys					DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Intron|DENND2C_ENST00000393276.3_Missense_Mutation_p.Y659C	p.Y716C	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		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)	16	2772	-	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)	716			DENN.		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.2147A>G	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.740661	0.89573	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540	T;T	0.13307	2.6;2.6	5.81	5.81	0.92471	DENN (3);	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.55679	-0.8103	10	0.87932	D	0	.	16.2128	0.82178	0.0:0.0:0.0:1.0	.	716;659	Q68D51;Q68D51-3	DEN2C_HUMAN;.	C	659;716;716	ENSP00000376957:Y659C;ENSP00000376955:Y716C	ENSP00000358553:Y716C	Y	-	2	0	DENND2C	114943554	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.589000	0.82641	2.234000	0.73211	0.524000	0.50904	TAT		0.458	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		8	33	0	0	0	1	0	8	33					C	115142031	T	C	115142031	3	2	492	1	0	0	0	0	1	0	0	0	4430	1406	49	4	663	4	DENND2C	1	115142031	Missense_Mutation	SNP	T	TCGA-ZG-A9LY-01A-11D-A41K-08	79771513	115142031	134108590	4	32686											
FLG2	388698	broad.mit.edu	37	chr1	152327955	152327955	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagaactgtgttggccataGctagactgacctgatctaga	11	10	10	10	0	1	5	0	2	1	3	1	5	1	5	3	1	2	2	3	1	4	4			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517																																						ENST00000388718.5																			1	Substitution - coding silent(1)	p.S769S(1)	kidney(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2305-2307)agC>agT		filaggrin family member 2							412	337	362					1																	152327955		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327955G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2307C>T	1.37:g.152327955G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S769S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		769			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2307C>T	CCDS30861.1																																																																																				0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	318	0	0	0	1	0	7	318					A	152327955	G	A	152327955	2	1	492	1	0	0	0	0	0	0	0	1	5923	962	34	3		3	FLG2	1	152327955	Silent	SNP	G	TCGA-ZG-A9LY-01A-11D-A41K-08	37185924	152327955	96922666	5	32687											
HADHB	3032	broad.mit.edu	37	chr2	26492860	26492860	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgatttggctagagcagcGcttacgtaagtaaatgcagt	12	11	11	7	2	0	2	0	1	0	1	0	2	0	2	0	1	4	6	0	1	5	5			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr2:26492860G>A	ENST00000317799.5	+	5	353	c.249G>A	c.(247-249)gcG>gcA	p.A83A	HADHB_ENST00000537713.1_Intron|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000545822.1_Silent_p.A61A|HADHB_ENST00000405867.3_Silent_p.A83A	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	83					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAGAGCAGCGCTTACGTAAG	0.343																																						ENST00000317799.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19						c.(247-249)gcG>gcA		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit							135	132	133					2																	26492860		2203	4300	6503	SO:0001819	synonymous_variant	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26492860G>A		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"mitochondrial trifunctional protein, beta subunit"	143450	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.249G>A	2.37:g.26492860G>A						HADHB_ENST00000545822.1_Silent_p.A61A|HADHB_ENST00000537713.1_Intron|HADHB_ENST00000405867.3_Silent_p.A83A|HADHB_ENST00000494615.1_3'UTR	p.A83A	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN			5	353	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		83					B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Silent	SNP	ENST00000317799.5	37	c.249G>A	CCDS1722.1																																																																																				0.343	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		9	64	0	0	0	1	0	9	64					A	26492860	G	A	26492860	2	1	492	1	0	0	0	0	0	0	0	1	6944	1074	38	1		1	HADHB	2	26492860	Silent	SNP	G	TCGA-ZG-A9LY-01A-11D-A41K-08		26492860	216706513	6	32688											
ALK	238	broad.mit.edu	37	chr2	29917842	29917842	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcatgcagtggaggggaatActccagctcacaggggaagt	11	7	15	8	0	2	0	2	0	0	0	3	3	3	3	1	5	3	2	1	5	3	1			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr2:29917842A>C	ENST00000389048.3	-	3	1732	c.826T>G	c.(826-828)Tat>Gat	p.Y276D	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	276	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		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)|Crizotinib(DB08865)	GGAGGGGAATACTCCAGCTCA	0.577			"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																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"T, Mis, A"	anaplastic lymphoma kinase (Ki-1)			"L, E, M"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	neuroblastoma	"ALCL, NSCLC, Neuroblastoma"	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)	0				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						c.(826-828)Tat>Gat		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						97	94	95					2																	29917842		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29917842A>C	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.826T>G	2.37:g.29917842A>C	ENSP00000373700:p.Tyr276Asp					ALK_ENST00000431873.1_Intron	p.Y276D	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			3	1732	-	Acute lymphoblastic leukemia(172;0.155)		276			MAM 1.		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.826T>G	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.639636	0.67244	.	.	ENSG00000171094	ENST00000389048	T	0.02552	4.25	6.07	4.91	0.64330	Concanavalin A-like lectin/glucanase (1);MAM domain (1);	.	.	.	.	T	0.03136	0.0092	N	0.08118	0	0.80722	D	1	P	0.51351	0.944	P	0.53313	0.723	T	0.66476	-0.5914	8	.	.	.	.	9.6287	0.39765	0.8446:0.0:0.0:0.1554	.	276	Q9UM73	ALK_HUMAN	D	276	ENSP00000373700:Y276D	.	Y	-	1	0	ALK	29771346	1.000000	0.71417	0.986000	0.45419	0.877000	0.50540	5.061000	0.64319	1.097000	0.41459	0.533000	0.62120	TAT		0.577	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		15	48	0	0	0	1	0	15	48					C	29917842	A	C	29917842	3	2	492	1	0	0	0	0	1	0	0	0	525	391	14	5	4144	5	ALK	2	29917842	Missense_Mutation	SNP	A	TCGA-ZG-A9LY-01A-11D-A41K-08	3424982	29917842	213281531	7	32689											
FN1	2335	broad.mit.edu	37	chr2	216243939	216243939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctccttgggggtcacccGcactcgatatccagtgagct	6	11	10	14	2	2	1	1	1	1	0	5	2	3	1	3	2	1	2	3	2	1	3			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr2:216243939G>A	ENST00000359671.1	-	33	5528	c.5263C>T	c.(5263-5265)Cgg>Tgg	p.R1755W	FN1_ENST00000490833.1_5'UTR|FN1_ENST00000346544.3_Missense_Mutation_p.R1755W|FN1_ENST00000443816.1_Missense_Mutation_p.R1665W|FN1_ENST00000336916.4_Missense_Mutation_p.R1755W|FN1_ENST00000357009.2_Missense_Mutation_p.R1755W|FN1_ENST00000421182.1_Missense_Mutation_p.R1665W|FN1_ENST00000345488.5_Missense_Mutation_p.R1755W|FN1_ENST00000357867.4_Missense_Mutation_p.R1665W|FN1_ENST00000446046.1_Missense_Mutation_p.R1755W|FN1_ENST00000356005.4_Missense_Mutation_p.R1665W|FN1_ENST00000354785.4_Missense_Mutation_p.R1846W|FN1_ENST00000323926.6_Missense_Mutation_p.R1846W|FN1_ENST00000432072.2_Missense_Mutation_p.R1756W			P02751	FINC_HUMAN	fibronectin 1	1755	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.			R -> W (in Ref. 5; CAH18136). {ECO:0000305}.	acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGGGTCACCCGCACTCGATAT	0.527																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(5536-5538)Cgg>Tgg		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						133	124	127					2																	216243939		2203	4300	6503	SO:0001583	missense	2335				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	g.chr2:216243939G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5263C>T	2.37:g.216243939G>A	ENSP00000352696:p.Arg1755Trp					FN1_ENST00000359671.1_Missense_Mutation_p.R1755W|FN1_ENST00000357867.4_Missense_Mutation_p.R1665W|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000336916.4_Missense_Mutation_p.R1755W|FN1_ENST00000356005.4_Missense_Mutation_p.R1665W|FN1_ENST00000323926.6_Missense_Mutation_p.R1846W|FN1_ENST00000357009.2_Missense_Mutation_p.R1755W|FN1_ENST00000346544.3_Missense_Mutation_p.R1755W|FN1_ENST00000345488.5_Missense_Mutation_p.R1755W|FN1_ENST00000421182.1_Missense_Mutation_p.R1665W|FN1_ENST00000443816.1_Missense_Mutation_p.R1665W|FN1_ENST00000446046.1_Missense_Mutation_p.R1755W|FN1_ENST00000432072.2_Missense_Mutation_p.R1756W	p.R1846W			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	34	5905	-		Renal(323;0.127)	1847			Binds to FBLN1.|Fibronectin type-III 14.|Heparin-binding 2.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.5536C>T		.	.	.	.	.	.	.	.	.	.	G	20.2	3.948501	0.73787	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	6.17	2.21	0.28008	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.189399	0.35677	N	0.003051	T	0.77294	0.4109	M	0.84326	2.69	0.20821	N	0.999841	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.998;0.999;0.992;0.994;0.999;1.0;0.987;1.0;0.999;0.999;0.999;0.999	T	0.73949	-0.3821	10	0.66056	D	0.02	.	16.8756	0.86051	0.0:0.0:0.3776:0.6224	.	1755;1756;1846;1665;1665;1755;1755;1756;1665;1665;1846;1755	F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	W	1665;1846;1755;1665;1846;1756;1755;1755;1755;1755;1755;1665;1756;1665;472	ENSP00000394423:R1665W;ENSP00000323534:R1846W;ENSP00000338200:R1755W;ENSP00000350534:R1665W;ENSP00000346839:R1846W;ENSP00000352696:R1755W;ENSP00000265312:R1755W;ENSP00000273049:R1755W;ENSP00000349509:R1755W;ENSP00000410422:R1755W;ENSP00000415018:R1665W;ENSP00000399538:R1756W;ENSP00000348285:R1665W;ENSP00000416139:R472W	ENSP00000265313:R1756W	R	-	1	2	FN1	215952184	1.000000	0.71417	0.884000	0.34674	0.938000	0.57974	2.496000	0.45346	0.128000	0.18479	-0.181000	0.13052	CGG		0.527	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		7	47	0	0	0	1	0	7	47					A	216243939	G	A	216243939	3	1	492	1	0	0	0	0	1	0	0	0	5962	1086	38	1	1949	1	FN1	2	216243939	Missense_Mutation	SNP	G	TCGA-ZG-A9LY-01A-11D-A41K-08	186326097	216243939	26955434	8	32690											
NGEF	25791	broad.mit.edu	37	chr2	233759485	233759485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcactgacagccagcaCgtccaggacgttggagaaga	11	5	12	13	3	1	3	1	1	0	2	2	5	2	4	3	2	2	3	3	2	1	1			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr2:233759485C>T	ENST00000264051.3	-	6	1248	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	NGEF_ENST00000409079.1_Missense_Mutation_p.V232M|NGEF_ENST00000539537.1_Missense_Mutation_p.V47M|NGEF_ENST00000373552.4_Missense_Mutation_p.V232M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	324	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ACAGCCAGCACGTCCAGGACG	0.602																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(970-972)Gtg>Atg		neuronal guanine nucleotide exchange factor							80	72	75					2																	233759485		2203	4300	6503	SO:0001583	missense	25791				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	g.chr2:233759485C>T	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.970G>A	2.37:g.233759485C>T	ENSP00000264051:p.Val324Met					NGEF_ENST00000539537.1_Missense_Mutation_p.V47M|NGEF_ENST00000373552.4_Missense_Mutation_p.V232M|NGEF_ENST00000409079.1_Missense_Mutation_p.V232M	p.V324M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		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)	6	1248	-		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)	324			DH.		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.970G>A	CCDS2500.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.265633|4.265633	0.80358|0.80358	.|.	.|.	ENSG00000066248|ENSG00000066248	ENST00000420650|ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735;ENST00000409079	.|T;T;T;T;T;T	.|0.32988	.|1.43;1.43;1.43;1.43;1.43;1.43	5.22|5.22	5.22|5.22	0.72569|0.72569	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63988|0.63988	0.2558|0.2558	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.998;1.0;1.0	.|D;D;D	.|0.81914	.|0.971;0.991;0.995	T|T	0.72060|0.72060	-0.4404|-0.4404	5|10	.|0.87932	.|D	.|0	-46.3681|-46.3681	18.7943|18.7943	0.91988|0.91988	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|232;232;324	.|E9PC42;B4DMB8;Q8N5V2	.|.;.;NGEF_HUMAN	H|M	116|324;232;214;47;47;47;232	.|ENSP00000264051:V324M;ENSP00000362653:V232M;ENSP00000439035:V47M;ENSP00000401063:V47M;ENSP00000412614:V47M;ENSP00000387033:V232M	.|ENSP00000264051:V324M	R|V	-|-	2|1	0|0	NGEF|NGEF	233467729|233467729	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.898000|0.898000	0.52572|0.52572	4.619000|4.619000	0.61218|0.61218	2.440000|2.440000	0.82611|0.82611	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.602	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		7	37	0	0	0	1	0	7	37					T	233759485	C	T	233759485	3	4	492	1	0	0	0	0	1	0	0	0	10394	536	19	1	1202	1	NGEF	2	233759485	Missense_Mutation	SNP	C	TCGA-ZG-A9LY-01A-11D-A41K-08	17515546	233759485	9439888	9	32691											
BRPF1	7862	broad.mit.edu	37	chr3	9782470	9782470	+	Frame_Shift_Del	DEL	A	A	-																															tcctgcctcccaggcttagtAaaatcaccaaccgcctgacc																										TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr3:9782470delA	ENST00000457855.1	+	3	1578	c.1567delA	c.(1567-1569)aaafs	p.K523fs	BRPF1_ENST00000302054.3_Frame_Shift_Del_p.K523fs|BRPF1_ENST00000383829.2_Frame_Shift_Del_p.K523fs|BRPF1_ENST00000424362.1_Frame_Shift_Del_p.K523fs|BRPF1_ENST00000433861.2_Frame_Shift_Del_p.K523fs			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	523	Interaction with MEAF6 and ING5.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CAGGCTTAGTAAAATCACCAA	0.522																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(1567-1569)aafs		bromodomain and PHD finger containing, 1							80	76	78					3																	9782470		2203	4300	6503	SO:0001589	frameshift_variant	7862				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	g.chr3:9782470delA	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1567delA	3.37:g.9782470delA	ENSP00000410210:p.Lys523fs					BRPF1_ENST00000457855.1_Frame_Shift_Del_p.K523fs|BRPF1_ENST00000433861.2_Frame_Shift_Del_p.K523fs|BRPF1_ENST00000424362.1_Frame_Shift_Del_p.K523fs|BRPF1_ENST00000302054.3_Frame_Shift_Del_p.K523fs	p.K523fs	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			4	1971	+	Medulloblastoma(99;0.227)		523			Interaction with MEAF6 and ING5.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Frame_Shift_Del	DEL	ENST00000457855.1	37	c.1567delA	CCDS2575.1																																																																																				0.522	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		16	67						16	67	---	---	---	---	-	9782470	A	-	9782470	7	5	492	1	0	1	0	1	0	0	0	0	1520	363	13	0	1577	0	BRPF1	3	9782470	Frame_Shift_Del	DEL	A	TCGA-ZG-A9LY-01A-11D-A41K-08		9782470	188239960	10	32692											
RBMS3	27303	broad.mit.edu	37	chr3	30029706	30029706	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcctccgacagctgttTctattgaagtaagtctaccc	8	13	8	12	1	2	1	0	1	2	0	3	2	3	1	3	0	3	3	3	0	4	5			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr3:30029706T>C	ENST00000383767.2	+	13	1507	c.1171T>C	c.(1171-1173)Tct>Cct	p.S391P	RBMS3_ENST00000383766.2_Missense_Mutation_p.S373P|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000396583.3_Missense_Mutation_p.S388P|RBMS3_ENST00000434693.2_Missense_Mutation_p.S390P|RBMS3_ENST00000452462.1_Missense_Mutation_p.S375P|RBMS3_ENST00000456853.1_Missense_Mutation_p.S388P|RBMS3_ENST00000273139.9_Missense_Mutation_p.S375P			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	391					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GACAGCTGTTTCTATTGAAGT	0.423																																						ENST00000434693.2																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11						c.(1168-1170)Tct>Cct		RNA binding motif, single stranded interacting protein 3							81	77	78					3																	30029706		2203	4300	6503	SO:0001583	missense	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:30029706T>C	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"RNA binding motif (RRM) containing"	13427	protein-coding gene	gene with protein product	"RNA-binding protein"	605786	"RNA binding motif, single stranded interacting protein"			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.1171T>C	3.37:g.30029706T>C	ENSP00000373277:p.Ser391Pro					RBMS3_ENST00000456853.1_Missense_Mutation_p.S388P|RBMS3_ENST00000383767.2_Missense_Mutation_p.S391P|RBMS3_ENST00000383766.2_Missense_Mutation_p.S373P|RBMS3_ENST00000396583.3_Missense_Mutation_p.S388P|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000452462.1_Missense_Mutation_p.S375P|RBMS3_ENST00000273139.9_Missense_Mutation_p.S375P	p.S390P	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN			13	1868	+		Ovarian(412;0.0956)	391					A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	c.1168T>C	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	T	6.434	0.448142	0.12223	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T	0.25749	1.78;1.81;1.78;1.78;1.94;1.78;1.81	5.79	4.66	0.58398	.	0.177283	0.50627	D	0.000102	T	0.10208	0.0250	N	0.08118	0	0.38739	D	0.953857	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.12156	0.007;0.001;0.007;0.0	T	0.24404	-1.0161	9	.	.	.	.	3.3152	0.07030	0.0:0.3275:0.0:0.6725	.	375;388;373;391	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	P	390;388;391;375;373;375;388	ENSP00000395592:S390P;ENSP00000379828:S388P;ENSP00000373277:S391P;ENSP00000273139:S375P;ENSP00000373276:S373P;ENSP00000397926:S375P;ENSP00000400519:S388P	.	S	+	1	0	RBMS3	30004710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.776000	0.55356	2.218000	0.71995	0.533000	0.62120	TCT		0.423	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		5	18	0	0	0	1	0	5	18					C	30029706	T	C	30029706	3	2	492	1	0	0	0	0	1	0	0	0	13150	1783	62	4	1264	4	RBMS3	3	30029706	Missense_Mutation	SNP	T	TCGA-ZG-A9LY-01A-11D-A41K-08	20247236	30029706	167992724	11	32693											
RHOA	387	broad.mit.edu	37	chr3	49412958	49412958	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttgctgaagactatgAgcaagcatgtctttccacag	10	11	10	10	0	1	3	0	2	1	1	3	3	3	3	2	1	3	3	2	1	3	3			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr3:49412958A>C	ENST00000418115.1	-	2	449	c.65T>G	c.(64-66)cTc>cGc	p.L22R	RHOA_ENST00000454011.2_Missense_Mutation_p.L22R|RHOA_ENST00000422781.1_Missense_Mutation_p.L22R	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	22					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAAGACTATGAGCAAGCATGT	0.473																																						ENST00000418115.1																			0				cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(64-66)cTc>cGc		ras homolog family member A	Atorvastatin(DB01076)|Simvastatin(DB00641)						147	133	138					3																	49412958		2203	4300	6503	SO:0001583	missense	387				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	g.chr3:49412958A>C	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.65T>G	3.37:g.49412958A>C	ENSP00000400175:p.Leu22Arg					RHOA_ENST00000454011.2_Missense_Mutation_p.L22R|RHOA_ENST00000422781.1_Missense_Mutation_p.L22R	p.L22R	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	2	449	-			22					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.65T>G	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.860276	0.91433	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.92880	0.7735	H	0.96748	3.875	0.80722	D	1	P	0.42248	0.774	P	0.60345	0.873	D	0.94522	0.7728	10	0.87932	D	0	.	15.1943	0.73075	1.0:0.0:0.0:0.0	.	22	P61586	RHOA_HUMAN	R	22	ENSP00000400175:L22R;ENSP00000394483:L22R;ENSP00000413587:L22R;ENSP00000408402:L22R;ENSP00000400747:L22R	ENSP00000400175:L22R	L	-	2	0	RHOA	49387962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.178000	0.94855	2.266000	0.75297	0.456000	0.33151	CTC		0.473	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		21	89	0	0	0	1	0	21	89					C	49412958	A	C	49412958	3	2	492	1	0	0	0	0	1	0	0	0	13331	304	11	5	532	5	RHOA	3	49412958	Missense_Mutation	SNP	A	TCGA-ZG-A9LY-01A-11D-A41K-08	19383252	49412958	148609472	12	32694											
MST1	63891	broad.mit.edu	37	chr3	49725284	49725284	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatgtagcaggtgctgtagCtctgtgccccggagcacttg	6	10	14	11	1	1	0	0	0	1	0	1	1	1	1	2	2	5	7	2	2	2	3			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr3:49725284C>T	ENST00000327697.6	+	0	0				RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000383728.3_Intron|MST1_ENST00000449682.2_Silent_p.E47E|MST1_ENST00000494828.2_Intron|MST1_ENST00000545762.1_Silent_p.E33E|AC099668.5_ENST00000563780.1_RNA	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGTGCTGTAGCTCTGTGCCCC	0.597																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(139-141)gaG>gaA		macrophage stimulating 1 (hepatocyte growth factor-like)							36	33	34					3																	49725284		2202	4300	6502	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49725284C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49725284C>T	Exception_encountered					MST1_ENST00000545762.1_Silent_p.E33E|MST1_ENST00000494828.2_Intron|MST1_ENST00000383728.3_Intron	p.E47E	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	502	-			33			PAN.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	c.141G>A	CCDS33758.1																																																																																				0.597	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		5	14	0	0	0	1	0	5	14					T	49725284	C	T	49725284	1	4	492	0	1	0	0	0	0	0	0	0	9890	796	28	3		3	MST1	3	49725284	5'Flank	SNP	C	TCGA-ZG-A9LY-01A-11D-A41K-08	312326	49725284	148297146	13	32695											
GOLGB1	2804	broad.mit.edu	37	chr3	121383372	121383372	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgagcaggacatgaatcatTagaaagtagatggctgctag	15	9	12	5	0	1	4	1	2	0	2	1	5	1	5	0	2	2	4	0	2	5	3			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr3:121383372T>C	ENST00000340645.5	-	22	9860	c.9735A>G	c.(9733-9735)ctA>ctG	p.L3245L	GOLGB1_ENST00000393667.3_Silent_p.L3255L	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	3245					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			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)		CATGAATCATTAGAAAGTAGA	0.478																																						ENST00000393667.3																			0				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						c.(9763-9765)ctA>ctG		golgin B1							106	100	102					3																	121383372		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121383372T>C	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.9735A>G	3.37:g.121383372T>C						GOLGB1_ENST00000340645.5_Silent_p.L3245L	p.L3255L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	22	9875	-			3245					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.9765A>G	CCDS3004.1																																																																																				0.478	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		11	33	0	0	0	1	0	11	33					C	121383372	T	C	121383372	2	2	492	1	0	0	0	0	0	0	0	1	6565	1741	61	4		4	GOLGB1	3	121383372	Silent	SNP	T	TCGA-ZG-A9LY-01A-11D-A41K-08	71658088	121383372	76639058	14	32696											
P2RY14	9934	broad.mit.edu	37	chr3	150931217	150931217	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaacggctggcatagaaaGaaataaataatagggtccaa	19	7	9	6	1	0	2	0	0	0	2	1	2	1	2	1	3	1	2	1	3	10	5			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr3:150931217G>T	ENST00000309170.3	-	3	1200	c.888C>A	c.(886-888)ttC>ttA	p.F296L	MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.F296L|MED12L_ENST00000474524.1_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	296					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGCATAGAAAGAAATAAATAA	0.363																																						ENST00000309170.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20						c.(886-888)ttC>ttA		purinergic receptor P2Y, G-protein coupled, 14							89	92	91					3																	150931217		2203	4300	6503	SO:0001583	missense	9934					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity	g.chr3:150931217G>T	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	16442	protein-coding gene	gene with protein product		610116	"G protein-coupled receptor 105"	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.888C>A	3.37:g.150931217G>T	ENSP00000308361:p.Phe296Leu					P2RY14_ENST00000424796.2_Missense_Mutation_p.F296L|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	p.F296L	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1200	-			296					Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	37	c.888C>A	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441096	0.63067	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.22134	1.97;1.97	5.36	4.47	0.54385	.	0.000000	0.64402	D	0.000002	T	0.19327	0.0464	N	0.08118	0	0.44531	D	0.997485	D	0.71674	0.998	D	0.65010	0.931	T	0.12837	-1.0532	10	0.46703	T	0.11	-34.2623	4.5554	0.12135	0.1482:0.0:0.5117:0.34	.	296	Q15391	P2Y14_HUMAN	L	296	ENSP00000308361:F296L;ENSP00000408733:F296L	ENSP00000308361:F296L	F	-	3	2	P2RY14	152413907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.904000	0.39868	1.235000	0.43724	0.650000	0.86243	TTC		0.363	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879		16	69	1	0	0.000422831	1	0.000430519	16	69					T	150931217	G	T	150931217	3	4	492	1	0	0	0	0	1	0	0	0	11351	933	33	5	132	5	P2RY14	3	150931217	Missense_Mutation	SNP	G	TCGA-ZG-A9LY-01A-11D-A41K-08	29547845	150931217	47091213	15	32697											
ARHGEF38	54848	broad.mit.edu	37	chr4	106473931	106473931	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgcctaatatggagccCaaagaagccactgggaaaga	14	8	10	9	0	1	2	0	0	1	2	1	4	1	4	3	2	3	0	3	2	5	3			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr4:106473931C>T	ENST00000420470.2	+	1	153	c.9C>T	c.(7-9)ccC>ccT	p.P3P	AC004066.3_ENST00000514879.1_RNA|ARHGEF38_ENST00000265154.2_Silent_p.P3P	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	3						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						ATATGGAGCCCAAAGAAGCCA	0.473																																						ENST00000420470.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						c.(7-9)ccC>ccT		Rho guanine nucleotide exchange factor (GEF) 38							65	65	65					4																	106473931		2203	4300	6503	SO:0001819	synonymous_variant	54848				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr4:106473931C>T	AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"Rho guanine nucleotide exchange factors"	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.9C>T	4.37:g.106473931C>T						ARHGEF38_ENST00000265154.2_Silent_p.P3P	p.P3P	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN			1	153	+			3					C9JIB4	Silent	SNP	ENST00000420470.2	37	c.9C>T	CCDS56338.1																																																																																				0.473	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000336934.3	NM_017700		4	72	0	0	0	1	0	4	72					T	106473931	C	T	106473931	2	4	492	1	0	0	0	0	0	0	0	1	907	581	21	3		3	ARHGEF38	4	106473931	Silent	SNP	C	TCGA-ZG-A9LY-01A-11D-A41K-08		106473931	84680345	16	32698											
FAT4	79633	broad.mit.edu	37	chr4	126336650	126336650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatataatacaagtgttcGcagcagatggagatgaaggc	15	8	12	6	1	0	4	0	1	0	3	1	5	0	4	0	2	2	3	0	2	5	4	rs373678302		TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr4:126336650G>A	ENST00000394329.3	+	5	6545	c.6532G>A	c.(6532-6534)Gca>Aca	p.A2178T	FAT4_ENST00000335110.5_Missense_Mutation_p.A476T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2178	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A2178S(2)|p.A2178P(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAAGTGTTCGCAGCAGATGG	0.398																																						ENST00000394329.3																			4	Substitution - Missense(4)	p.A2178S(2)|p.A2178P(2)	lung(4)	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						c.(6532-6534)Gca>Aca		FAT atypical cadherin 4		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	155	141	146		6532	5.6	0.6	4		146	0,8600		0,0,4300	no	missense	FAT4	NM_024582.4	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	2178/4982	126336650	1,13005	2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336650G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6532G>A	4.37:g.126336650G>A	ENSP00000377862:p.Ala2178Thr					FAT4_ENST00000335110.5_Missense_Mutation_p.A476T	p.A2178T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6545	+			2178			Cadherin 21.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6532G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946388	0.53079	2.27E-4	0.0	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.61392	0.11;0.11	5.6	5.6	0.85130	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004257	T	0.79353	0.4431	M	0.93898	3.47	0.80722	D	1	D;D	0.63880	0.993;0.99	P;P	0.58577	0.802;0.841	D	0.84804	0.0786	10	0.87932	D	0	.	15.259	0.73606	0.0:0.0:0.8591:0.1409	.	476;2178	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	T	2178;476	ENSP00000377862:A2178T;ENSP00000335169:A476T	ENSP00000335169:A476T	A	+	1	0	FAT4	126556100	1.000000	0.71417	0.566000	0.28421	0.058000	0.15608	7.722000	0.84778	2.642000	0.89623	0.557000	0.71058	GCA		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		13	81	0	0	0	1	0	13	81					A	126336650	G	A	126336650	3	1	492	1	0	0	0	0	1	0	0	0	5692	1087	38	1	6550	1	FAT4	4	126336650	Missense_Mutation	SNP	G	TCGA-ZG-A9LY-01A-11D-A41K-08	19862719	126336650	64817626	17	32699											
FRG1	2483	broad.mit.edu	37	chr4	190874231	190874231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttctccaatagttgatgagGgccctagtcctccagagcag	9	11	10	11	0	1	3	0	2	1	1	4	3	3	3	4	1	1	2	4	1	3	4			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr4:190874231G>A	ENST00000226798.4	+	4	490	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	90					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGTTGATGAGGGCCCTAGTCC	0.284																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(268-270)Ggc>Agc		FSHD region gene 1							11	11	11					4																	190874231		2001	4062	6063	SO:0001583	missense	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190874231G>A	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.268G>A	4.37:g.190874231G>A	ENSP00000226798:p.Gly90Ser					FRG1_ENST00000514482.1_3'UTR	p.G90S	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	4	490	+		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)	90					A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.268G>A	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	20.6	4.009804	0.75046	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.50001	1.96;0.76	3.71	3.71	0.42584	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	M	0.73753	2.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67597	-0.5630	10	0.39692	T	0.17	-23.5303	13.8593	0.63550	0.0:0.0:1.0:0.0	.	90	Q14331	FRG1_HUMAN	S	90;27	ENSP00000226798:G90S;ENSP00000435943:G27S	ENSP00000226798:G90S	G	+	1	0	FRG1	191111225	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.872000	0.92352	2.022000	0.59522	0.632000	0.83419	GGC		0.284	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		3	35	0	0	0	1	0	3	35					A	190874231	G	A	190874231	3	1	492	1	0	0	0	0	1	0	0	0	6046	1232	43	3	282	3	FRG1	4	190874231	Missense_Mutation	SNP	G	TCGA-ZG-A9LY-01A-11D-A41K-08	64537581	190874231	280045	18	32700											
PCDHA9	9752	broad.mit.edu	37	chr5	140228379	140228379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgtgcgggcggagcgCggagtgcagcatccacctgg	6	5	19	11	4	0	0	0	0	0	0	1	3	1	3	2	5	5	3	2	5	0	0			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr5:140228379C>T	ENST00000532602.1	+	1	1332	c.299C>T	c.(298-300)gCg>gTg	p.A100V	PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.A100V|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGGAGCGCGGAGTGCAGC	0.567																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(298-300)gCg>gTg									100	89	93					5																	140228379		2196	4254	6450	SO:0001583	missense	0							g.chr5:140228379C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.299C>T	5.37:g.140228379C>T	ENSP00000436042:p.Ala100Val					PCDHA9_ENST00000532602.1_Missense_Mutation_p.A100V|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron	p.A100V	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1023	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.299C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448512	0.26074	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.28069	1.63;1.63	3.91	0.575	0.17374	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	4.169370	0.05596	U	0.575568	T	0.16214	0.0390	N	0.21142	0.635	0.09310	N	1	B;P	0.52170	0.435;0.951	B;B	0.28465	0.042;0.09	T	0.30268	-0.9984	10	0.48119	T	0.1	.	8.9641	0.35865	0.0:0.7469:0.0:0.2531	.	100;100	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	V	100	ENSP00000436042:A100V;ENSP00000367362:A100V	ENSP00000367362:A100V	A	+	2	0	PCDHA9	140208563	0.000000	0.05858	0.948000	0.38648	0.529000	0.34654	-1.702000	0.01901	-0.028000	0.13850	-0.236000	0.12185	GCG		0.567	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		21	123	0	0	0	1	0	21	123					T	140228379	C	T	140228379	3	4	492	1	0	0	0	0	1	0	0	0	11531	768	27	1	301	1	PCDHA9	5	140228379	Missense_Mutation	SNP	C	TCGA-ZG-A9LY-01A-11D-A41K-08		140228379	40686881	19	32701											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308818	140308818	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtacaatgctgccgacctgCgaaatcttgccactggggta	10	9	11	11	2	1	0	0	0	1	0	1	2	1	0	3	2	5	3	3	2	4	3			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr5:140308818C>T	ENST00000253807.2	+	1	2341	c.2341C>T	c.(2341-2343)Cga>Tga	p.R781*	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000409700.3_Nonsense_Mutation_p.R781*|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	781					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCGACCTGCGAAATCTTGC	0.468																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(2341-2343)Cga>Tga									122	114	117					5																	140308818		2203	4300	6503	SO:0001587	stop_gained	0							g.chr5:140308818C>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.2341C>T	5.37:g.140308818C>T	ENSP00000253807:p.Arg781*					PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Nonsense_Mutation_p.R781*|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.R781*	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2341	+								Q9Y5F5|Q9Y5I5	Nonsense_Mutation	SNP	ENST00000253807.2	37	c.2341C>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	C	35	5.496907	0.96355	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	.	.	.	5.83	3.34	0.38264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	11.0275	0.47753	0.5321:0.4679:0.0:0.0	.	.	.	.	X	781	.	ENSP00000253807:R781X	R	+	1	2	PCDHAC1	140289002	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.014000	0.49590	1.041000	0.40125	-0.457000	0.05445	CGA		0.468	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		16	60	0	0	0	1	0	16	60					T	140308818	C	T	140308818	4	4	492	1	0	0	0	0	0	1	0	0	11532	760	27	1	2343	1	PCDHAC1	5	140308818	Nonsense_Mutation	SNP	C	TCGA-ZG-A9LY-01A-11D-A41K-08	80439	140308818	40606442	20	32702											
HIST1H4E	8367	broad.mit.edu	37	chr6	26205164	26205164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagagacagggacgcactCtttacggcttcggcggctaa	10	8	13	10	4	1	2	0	1	1	1	2	4	1	3	0	4	1	3	0	4	3	4			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr6:26205164C>T	ENST00000360441.4	+	1	307	c.292C>T	c.(292-294)Ctt>Ttt	p.L98F		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	98					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GGGACGCACTCTTTACGGCTT	0.532																																						ENST00000360441.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18						c.(292-294)Ctt>Ttt		histone cluster 1, H4e							119	102	108					6																	26205164		2203	4300	6503	SO:0001583	missense	8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26205164C>T	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"Histones / Replication-dependent"	4790	protein-coding gene	gene with protein product		602830	"H4 histone family, member J", "histone 1, H4e"	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.292C>T	6.37:g.26205164C>T	ENSP00000353624:p.Leu98Phe						p.L98F	NM_003545.3	NP_003536.1	P62805	H4_HUMAN			1	307	+		all_hematologic(11;0.196)	98					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000360441.4	37	c.292C>T	CCDS4593.1	.	.	.	.	.	.	.	.	.	.	.	12.65	2.001556	0.35320	.	.	ENSG00000198518	ENST00000360441	.	.	.	2.2	2.2	0.27929	.	0.000000	0.64402	U	0.000003	T	0.64091	0.2567	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	T	0.70835	-0.4764	6	0.87932	D	0	.	12.403	0.55424	0.0:1.0:0.0:0.0	.	.	.	.	F	98	.	ENSP00000353624:L98F	L	+	1	0	HIST1H4E	26313143	1.000000	0.71417	0.120000	0.21714	0.003000	0.03518	5.602000	0.67612	1.521000	0.48983	0.655000	0.94253	CTT		0.532	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		12	28	0	0	0	1	0	12	28					T	26205164	C	T	26205164	3	4	492	1	0	0	0	0	1	0	0	0	7169	913	32	3	294	3	HIST1H4E	6	26205164	Missense_Mutation	SNP	C	TCGA-ZG-A9LY-01A-11D-A41K-08		26205164	144909903	21	32703											
MYCT1	80177	broad.mit.edu	37	chr6	153043116	153043116	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccagtctcaccttccagCgacaagcttccctggaacaa	10	8	8	15	1	1	0	1	0	1	0	4	2	3	1	4	2	3	1	4	2	3	2			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr6:153043116C>T	ENST00000367245.5	+	2	444	c.436C>T	c.(436-438)Cga>Tga	p.R146*	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	146						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CACCTTCCAGCGACAAGCTTC	0.498																																						ENST00000367245.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(436-438)Cga>Tga		myc target 1							110	110	110					6																	153043116		2203	4300	6503	SO:0001587	stop_gained	80177					nucleus		g.chr6:153043116C>T	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.436C>T	6.37:g.153043116C>T	ENSP00000356214:p.Arg146*					MYCT1_ENST00000529453.1_Intron	p.R146*	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	444	+		Ovarian(120;0.0654)	146					Q8N396|Q8TBE8|Q9H763	Nonsense_Mutation	SNP	ENST00000367245.5	37	c.436C>T	CCDS5239.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264082	0.80358	.	.	ENSG00000120279	ENST00000367245	.	.	.	5.78	2.64	0.31445	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.9758	15.7999	0.78447	0.6825:0.3175:0.0:0.0	.	.	.	.	X	146	.	ENSP00000356214:R146X	R	+	1	2	MYCT1	153084809	0.993000	0.37304	1.000000	0.80357	0.985000	0.73830	0.239000	0.18023	0.177000	0.19895	-0.313000	0.08912	CGA		0.498	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		10	62	0	0	0	1	0	10	62					T	153043116	C	T	153043116	4	4	492	1	0	0	0	0	0	1	0	0	10022	760	27	1	442	1	MYCT1	6	153043116	Nonsense_Mutation	SNP	C	TCGA-ZG-A9LY-01A-11D-A41K-08	126837952	153043116	18071951	22	32704											
POM121C	100101267	broad.mit.edu	37	chr7	75066917	75066917	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgggatctcttattcaagTggtcatctgagctctgagaa	9	14	10	8	1	5	2	2	2	3	1	7	4	5	3	0	2	1	1	0	2	3	3			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr7:75066917T>C	ENST00000257665.5	-	5	1081	c.1082A>G	c.(1081-1083)cAc>cGc	p.H361R	POM121C_ENST00000453279.2_Missense_Mutation_p.H119R|POM121C_ENST00000473168.1_5'Flank			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	361	Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex.|Ser-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTTATTCAAGTGGTCATCTGA	0.473																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(355-357)cAc>cGc		POM121 transmembrane nucleoporin C							74	81	79					7																	75066917		2203	4297	6500	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75066917T>C		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1082A>G	7.37:g.75066917T>C	ENSP00000257665:p.His361Arg					POM121C_ENST00000257665.5_Missense_Mutation_p.H361R	p.H119R	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			7	1220	-			361			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.356A>G		.	.	.	.	.	.	.	.	.	.	T	10.67	1.416333	0.25552	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.10860	2.83;2.83	4.17	1.72	0.24424	.	0.339205	0.21394	N	0.075248	T	0.13457	0.0326	L	0.36672	1.1	0.22771	N	0.99875	D	0.63880	0.993	P	0.58660	0.843	T	0.08743	-1.0707	10	0.45353	T	0.12	.	2.9566	0.05878	0.0:0.1935:0.2446:0.5619	.	361	A8CG34	P121C_HUMAN	R	361;119	ENSP00000257665:H361R;ENSP00000414208:H119R	ENSP00000257665:H361R	H	-	2	0	POM121C	74904853	1.000000	0.71417	0.983000	0.44433	0.028000	0.11728	2.566000	0.45948	0.568000	0.29311	-0.626000	0.03995	CAC		0.473	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		21	58	0	0	0	1	0	21	58					C	75066917	T	C	75066917	3	2	492	1	0	0	0	0	1	0	0	0	12240	1696	59	4	2643	4	POM121C	7	75066917	Missense_Mutation	SNP	T	TCGA-ZG-A9LY-01A-11D-A41K-08		75066917	84071746	23	32705											
NUP214	8021	broad.mit.edu	37	chr9	134034812	134034812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtgaaatttgctgtccaaGatgtgaatgatgttctagac	12	14	10	5	0	1	5	0	3	1	2	2	5	2	5	1	0	1	2	1	0	4	3			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr9:134034812G>A	ENST00000359428.5	+	18	2623	c.2479G>A	c.(2479-2481)Gat>Aat	p.D827N	NUP214_ENST00000451030.1_Missense_Mutation_p.D828N|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.D817N|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000587408.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	827	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			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)		TGCTGTCCAAGATGTGAATGA	0.363			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				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						c.(2479-2481)Gat>Aat		nucleoporin 214kDa							99	88	91					9																	134034812		2203	4300	6503	SO:0001583	missense	8021				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	g.chr9:134034812G>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.2479G>A	9.37:g.134034812G>A	ENSP00000352400:p.Asp827Asn					RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.D828N|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.D817N|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA	p.D827N			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	18	2623	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	827			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.2479G>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	36	5.838149	0.97009	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.35605	1.31;1.3;1.32	5.9	5.9	0.94986	.	0.000000	0.43919	D	0.000506	T	0.43656	0.1257	N	0.08118	0	0.80722	D	1	D;D;P;D	0.89917	0.988;1.0;0.954;1.0	D;D;P;D	0.97110	0.981;1.0;0.683;1.0	T	0.54200	-0.8329	10	0.66056	D	0.02	-21.8153	19.2703	0.94006	0.0:0.0:1.0:0.0	.	816;421;817;827	P35658-2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	N	827;817;828;816;421;256	ENSP00000352400:D827N;ENSP00000396576:D817N;ENSP00000405014:D828N	ENSP00000352400:D827N	D	+	1	0	NUP214	133024633	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.196000	0.94978	2.806000	0.96561	0.655000	0.94253	GAT		0.363	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		10	29	0	0	0	1	0	10	29					A	134034812	G	A	134034812	3	1	492	1	0	0	0	0	1	0	0	0	10762	942	33	3	2549	3	NUP214	9	134034812	Missense_Mutation	SNP	G	TCGA-ZG-A9LY-01A-11D-A41K-08		134034812	7178619	24	32706											
PNLIP	5406	broad.mit.edu	37	chr10	118306869	118306869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccccatggtcaggaattaCggaaagacccctccatatat	12	9	7	13	1	1	1	1	0	0	1	3	3	3	3	5	3	1	0	5	3	5	3	rs140844816		TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr10:118306869C>T	ENST00000369221.2	+	3	138	c.110C>T	c.(109-111)aCg>aTg	p.T37M	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	37					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TCAGGAATTACGGAAAGACCC	0.428																																						ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(109-111)aCg>aTg		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	93	90	91		110	-5.5	0	10	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	missense	PNLIP	NM_000936.2	81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	37/466	118306869	2,13004	2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118306869C>T	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.110C>T	10.37:g.118306869C>T	ENSP00000358223:p.Thr37Met					PNLIP_ENST00000470562.1_3'UTR	p.T37M	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	3	138	+			37					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.110C>T	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	C	5.653	0.305033	0.10678	2.27E-4	1.16E-4	ENSG00000175535	ENST00000369221	D	0.90788	-2.73	5.36	-5.49	0.02584	Lipase, N-terminal (1);	3.822420	0.00465	N	0.000109	D	0.85805	0.5782	L	0.51422	1.61	0.09310	N	1	P	0.38922	0.651	B	0.28553	0.091	T	0.76465	-0.2949	10	0.34782	T	0.22	.	14.2528	0.66031	0.0:0.5538:0.0:0.4462	.	37	P16233	LIPP_HUMAN	M	37	ENSP00000358223:T37M	ENSP00000358223:T37M	T	+	2	0	PNLIP	118296859	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.638000	0.05452	-1.294000	0.02360	-0.383000	0.06682	ACG		0.428	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		14	53	0	0	0	1	0	14	53					T	118306869	C	T	118306869	3	4	492	1	0	0	0	0	1	0	0	0	12149	536	19	1	116	1	PNLIP	10	118306869	Missense_Mutation	SNP	C	TCGA-ZG-A9LY-01A-11D-A41K-08		118306869	17227878	25	32707											
HEPHL1	341208	broad.mit.edu	37	chr11	93800893	93800893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaagtggatgataacctGccaggtcagcgaccacctac	11	7	12	11	1	1	1	1	1	0	0	1	4	1	3	4	3	4	0	4	3	3	2			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr11:93800893G>T	ENST00000315765.9	+	5	1048	c.1040G>T	c.(1039-1041)tGc>tTc	p.C347F		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	347	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATGATAACCTGCCAGGTCAGC	0.468																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(1039-1041)tGc>tTc		hephaestin-like 1							80	78	79					11																	93800893		1938	4142	6080	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93800893G>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1040G>T	11.37:g.93800893G>T	ENSP00000313699:p.Cys347Phe						p.C347F	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			5	1048	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	347			Plastocyanin-like 2.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.1040G>T	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585999	0.86748	.	.	ENSG00000181333	ENST00000315765	D	0.99928	-8.07	5.63	5.63	0.86233	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.99939	0.9973	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96282	0.9207	10	0.87932	D	0	.	20.0572	0.97657	0.0:0.0:1.0:0.0	.	347	Q6MZM0	HPHL1_HUMAN	F	347	ENSP00000313699:C347F	ENSP00000313699:C347F	C	+	2	0	HEPHL1	93440541	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.498000	0.97972	2.826000	0.97356	0.655000	0.94253	TGC		0.468	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		10	31	1	0	2.74318e-10	1	2.95419e-10	10	31					T	93800893	G	T	93800893	3	4	492	1	0	0	0	0	1	0	0	0	7055	1319	46	5	1058	5	HEPHL1	11	93800893	Missense_Mutation	SNP	G	TCGA-ZG-A9LY-01A-11D-A41K-08		93800893	41205623	26	32708											
NELL2	4753	broad.mit.edu	37	chr12	45209834	45209834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctgttttagggtcacCaaaatagtaaattcatgttt	11	16	9	5	0	3	0	2	0	1	0	3	0	3	0	1	2	0	3	1	2	6	6			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr12:45209834C>A	ENST00000429094.2	-	3	774	c.270G>T	c.(268-270)ttG>ttT	p.L90F	NELL2_ENST00000549027.1_Missense_Mutation_p.L89F|NELL2_ENST00000333837.4_Missense_Mutation_p.L113F|NELL2_ENST00000452445.2_Missense_Mutation_p.L90F|NELL2_ENST00000548826.1_Missense_Mutation_p.L90F|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000395487.2_Missense_Mutation_p.L89F|NELL2_ENST00000551601.1_Missense_Mutation_p.L89F|NELL2_ENST00000437801.2_Missense_Mutation_p.L140F	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	90	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTAGGGTCACCAAAATAGTAA	0.368																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(268-270)ttG>ttT		NEL-like 2 (chicken)							107	107	107					12																	45209834		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45209834C>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.270G>T	12.37:g.45209834C>A	ENSP00000390680:p.Leu90Phe					NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000551601.1_Missense_Mutation_p.L89F|NELL2_ENST00000548826.1_Missense_Mutation_p.L90F|NELL2_ENST00000549027.1_Missense_Mutation_p.L89F|NELL2_ENST00000395487.2_Missense_Mutation_p.L89F|NELL2_ENST00000333837.4_Missense_Mutation_p.L113F|NELL2_ENST00000452445.2_Missense_Mutation_p.L90F|NELL2_ENST00000437801.2_Missense_Mutation_p.L140F	p.L90F	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	3	774	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	90			TSP N-terminal.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.270G>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066432	0.76187	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120;ENST00000548826;ENST00000548531	T;T;T;T;T;T;T;T;T;T;T	0.02525	4.26;4.26;4.26;4.26;4.26;4.26;4.26;4.26;4.26;4.26;4.26	4.94	4.94	0.65067	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.15262	0.0368	M	0.72894	2.215	0.58432	D	0.999999	D;D;D;D;D;D	0.71674	0.998;0.998;0.991;0.998;0.981;0.996	D;D;P;D;P;D	0.78314	0.991;0.917;0.885;0.986;0.708;0.917	T	0.00265	-1.1865	10	0.72032	D	0.01	-9.2636	18.5181	0.90942	0.0:1.0:0.0:0.0	.	113;140;89;90;90;89	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	F	89;90;89;90;89;113;140;89;90;87;90;89	ENSP00000378866:L89F;ENSP00000390680:L90F;ENSP00000449332:L89F;ENSP00000394612:L90F;ENSP00000447927:L89F;ENSP00000327988:L113F;ENSP00000416341:L140F;ENSP00000447085:L90F;ENSP00000447384:L87F;ENSP00000448635:L90F;ENSP00000449068:L89F	ENSP00000327988:L113F	L	-	3	2	NELL2	43496101	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	1.998000	0.40796	2.448000	0.82819	0.591000	0.81541	TTG		0.368	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		21	71	1	0	3.62473e-10	1	3.82991e-10	21	71					A	45209834	C	A	45209834	3	1	492	1	0	0	0	0	1	0	0	0	10334	593	21	5	2252	5	NELL2	12	45209834	Missense_Mutation	SNP	C	TCGA-ZG-A9LY-01A-11D-A41K-08		45209834	88642061	27	32709											
KRT4	3851	broad.mit.edu	37	chr12	53202551	53202551	+	Silent	SNP	G	G	A																															gcacggacctcggcaataatGctgtccaggtccaggttgcg																										TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr12:53202551G>A	ENST00000551956.1	-	5	1410	c.918C>T	c.(916-918)agC>agT	p.S306S	KRT4_ENST00000458244.2_Silent_p.S286S|KRT4_ENST00000293774.4_Silent_p.S380S			P19013	K2C4_HUMAN	keratin 4	320	Linker 12.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CGGCAATAATGCTGTCCAGGT	0.577																																					Pancreas(190;284 2995 41444 45903)	ENST00000551956.1																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(916-918)agC>agT		keratin 4							109	99	102					12																	53202551		2203	4300	6503	SO:0001819	synonymous_variant	3851					keratin filament	structural molecule activity	g.chr12:53202551G>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.918C>T	12.37:g.53202551G>A						KRT4_ENST00000458244.2_Silent_p.S286S|KRT4_ENST00000293774.4_Silent_p.S380S	p.S306S			B4DRS2	B4DRS2_HUMAN			5	1410	-			306					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	c.918C>T	CCDS41787.2																																																																																				0.577	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		18	50	0	0	0	1	0	18	50					A	53202551	G	A	53202551	2	1	492	1	0	0	0	0	0	0	0	1	8477	1310	46	3		3	KRT4	12	53202551	Silent	SNP	G	TCGA-ZG-A9LY-01A-11D-A41K-08	7992717	53202551	80649344	28	32710	160	2									
KRT4	3851	broad.mit.edu	37	chr12	53202552	53202552	+	Missense_Mutation	SNP	C	C	A																															cacggacctcggcaataatgCtgtccaggtccaggttgcgg																										TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr12:53202552C>A	ENST00000551956.1	-	5	1409	c.917G>T	c.(916-918)aGc>aTc	p.S306I	KRT4_ENST00000458244.2_Missense_Mutation_p.S286I|KRT4_ENST00000293774.4_Missense_Mutation_p.S380I			P19013	K2C4_HUMAN	keratin 4	320	Linker 12.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGCAATAATGCTGTCCAGGTC	0.582																																					Pancreas(190;284 2995 41444 45903)	ENST00000551956.1																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(916-918)aGc>aTc		keratin 4							109	99	102					12																	53202552		2203	4300	6503	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53202552C>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.917G>T	12.37:g.53202552C>A	ENSP00000448220:p.Ser306Ile					KRT4_ENST00000458244.2_Missense_Mutation_p.S286I|KRT4_ENST00000293774.4_Missense_Mutation_p.S380I	p.S306I			B4DRS2	B4DRS2_HUMAN			5	1409	-			306					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.917G>T	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228062	0.79576	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	T;T;T	0.75938	-0.98;-0.98;-0.98	5.75	4.87	0.63330	Filament (1);	0.110360	0.41605	D	0.000849	D	0.90978	0.7163	H	0.98446	4.235	0.33080	D	0.536569	D	0.56746	0.977	D	0.65323	0.934	D	0.96182	0.9131	10	0.87932	D	0	.	15.0931	0.72211	0.0:0.9321:0.0:0.0679	.	320	P19013	K2C4_HUMAN	I	306;380;286	ENSP00000448220:S306I;ENSP00000293774:S380I;ENSP00000387904:S286I	ENSP00000293774:S380I	S	-	2	0	KRT4	51488819	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.146000	0.71777	1.595000	0.50050	-0.136000	0.14681	AGC		0.582	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		18	50	1	0	9.7654e-05	1	0.000101271	18	50					A	53202552	C	A	53202552	3	1	492	1	0	0	0	0	1	0	0	0	8477	797	28	5	665	5	KRT4	12	53202552	Missense_Mutation	SNP	C	TCGA-ZG-A9LY-01A-11D-A41K-08	1	53202552	80649343	29	32711	160	2									
NR2C1	7181	broad.mit.edu	37	chr12	95452139	95452139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaacctgcagtattgacagCggtttcggtggtgcttatta	8	14	12	7	2	0	1	0	1	0	0	1	1	0	1	1	3	4	5	1	3	4	6			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr12:95452139C>T	ENST00000333003.5	-	5	821	c.491G>A	c.(490-492)cGc>cAc	p.R164H	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.R164H|NR2C1_ENST00000330677.7_Missense_Mutation_p.R164H	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	164	Required for interaction with KAT2B. {ECO:0000250}.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						GTATTGACAGCGGTTTCGGTG	0.348																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(490-492)cGc>cAc		nuclear receptor subfamily 2, group C, member 1							92	91	91					12																	95452139		2203	4300	6503	SO:0001583	missense	7181				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	g.chr12:95452139C>T	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.491G>A	12.37:g.95452139C>T	ENSP00000333275:p.Arg164His					NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.R164H|NR2C1_ENST00000330677.7_Missense_Mutation_p.R164H	p.R164H	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN			5	821	-			164			Required for interaction with KAT2B (By similarity).		A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.491G>A	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188898	0.94923	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.97505	-4.41;-4.41;-4.41	5.57	5.57	0.84162	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.089102	0.85682	D	0.000000	D	0.98563	0.9520	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.91635	0.994;0.985;0.999;0.991	D	0.99517	1.0957	10	0.87932	D	0	.	19.5383	0.95264	0.0:1.0:0.0:0.0	.	164;164;164;164	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	H	164	ENSP00000333275:R164H;ENSP00000376813:R164H;ENSP00000328843:R164H	ENSP00000328843:R164H	R	-	2	0	NR2C1	93976270	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.632000	0.89209	0.561000	0.74099	CGC		0.348	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		5	61	0	0	0	1	0	5	61					T	95452139	C	T	95452139	3	4	492	1	0	0	0	0	1	0	0	0	10622	768	27	1	1438	1	NR2C1	12	95452139	Missense_Mutation	SNP	C	TCGA-ZG-A9LY-01A-11D-A41K-08	42249587	95452139	38399756	30	32712											
HIP1R	9026	broad.mit.edu	37	chr12	123345916	123345916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgcggctgggggagttgcGgaagcaacactacgtgctgg	8	7	17	9	3	0	0	0	0	0	0	0	2	0	2	0	5	6	4	0	5	3	2	rs564135107		TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr12:123345916G>A	ENST00000253083.4	+	31	3139	c.3014G>A	c.(3013-3015)cGg>cAg	p.R1005Q		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	1005	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			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)		GGGGAGTTGCGGAAGCAACAC	0.657													G|||	1	0.000199681	0	0	5008	,	,		16980	0		0	False		,,,				2504	0.001					ENST00000253083.4																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(3013-3015)cGg>cAg		huntingtin interacting protein 1 related							35	46	42					12																	123345916		2203	4299	6502	SO:0001583	missense	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123345916G>A	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.3014G>A	12.37:g.123345916G>A	ENSP00000253083:p.Arg1005Gln						p.R1005Q	NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	31	3139	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1005			I/LWEQ.		A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	c.3014G>A	CCDS31922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.234915|5.234915	0.95207|0.95207	.|.	.|.	ENSG00000130787|ENSG00000130787	ENST00000535012|ENST00000253083	.|T	.|0.68331	.|-0.32	5.24|5.24	5.24|5.24	0.73138|0.73138	.|I/LWEQ (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87079|0.87079	0.6088|0.6088	H|H	0.94886|0.94886	3.595|3.595	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.90758|0.90758	0.4662|0.4662	5|10	.|0.87932	.|D	.|0	-50.1935|-50.1935	17.5931|17.5931	0.88003|0.88003	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1005	.|O75146	.|HIP1R_HUMAN	R|Q	134|1005	.|ENSP00000253083:R1005Q	.|ENSP00000253083:R1005Q	G|R	+|+	1|2	0|0	HIP1R|HIP1R	121911869|121911869	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.468000|0.468000	0.32798|0.32798	9.834000|9.834000	0.99428|0.99428	2.444000|2.444000	0.82710|0.82710	0.462000|0.462000	0.41574|0.41574	GGA|CGG		0.657	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		4	31	0	0	0	1	0	4	31					A	123345916	G	A	123345916	3	1	492	1	0	0	0	0	1	0	0	0	7115	1116	39	2	3136	2	HIP1R	12	123345916	Missense_Mutation	SNP	G	TCGA-ZG-A9LY-01A-11D-A41K-08	27893777	123345916	10505979	31	32713											
FLT1	2321	broad.mit.edu	37	chr13	29068965	29068965	+	Frame_Shift_Del	DEL	C	C	-																															gcacagcaggaccccggtgtCccagtagctgaccatggtga																								rs200728664	byFrequency	TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr13:29068965delC	ENST00000282397.4	-	1	267	c.16delG	c.(16-18)gacfs	p.D6fs	FLT1_ENST00000541932.1_Frame_Shift_Del_p.D6fs|FLT1_ENST00000539099.1_Frame_Shift_Del_p.D6fs	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	6					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			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)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCCCGGTGTCCCAGTAGCTG	0.751																																						ENST00000282397.4																			0				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						c.(16-18)acfs		fms-related tyrosine kinase 1	Sunitinib(DB01268)						10	12	12					13																	29068965		2161	4217	6378	SO:0001589	frameshift_variant	2321				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	g.chr13:29068965delC	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.16delG	13.37:g.29068965delC	ENSP00000282397:p.Asp6fs					FLT1_ENST00000539099.1_Frame_Shift_Del_p.D6fs|FLT1_ENST00000541932.1_Frame_Shift_Del_p.D6fs	p.D6fs	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	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)	1	267	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	6					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Frame_Shift_Del	DEL	ENST00000282397.4	37	c.16delG	CCDS9330.1																																																																																				0.751	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			2	4						2	4	---	---	---	---	-	29068965	C	-	29068965	7	5	492	1	0	1	0	1	0	0	0	0	5941	855	30	0	4383	0	FLT1	13	29068965	Frame_Shift_Del	DEL	C	TCGA-ZG-A9LY-01A-11D-A41K-08		29068965	86100913	32	32714											
LIG4	3981	broad.mit.edu	37	chr13	108862028	108862028	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttggtggagcttttctaTgaaaaggcttccaatacttg	9	15	10	7	0	1	1	0	1	1	0	2	2	2	2	1	3	3	3	1	3	5	7			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr13:108862028T>C	ENST00000356922.4	-	2	1861	c.1589A>G	c.(1588-1590)cAt>cGt	p.H530R	LIG4_ENST00000405925.1_Missense_Mutation_p.H530R|LIG4_ENST00000442234.1_Missense_Mutation_p.H530R	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	530					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			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)					AGCTTTTCTATGAAAAGGCTT	0.418								Non-homologous end-joining																														ENST00000356922.4																			0				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						c.(1588-1590)cAt>cGt	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							92	97	96					13																	108862028		2203	4300	6503	SO:0001583	missense	3981				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	g.chr13:108862028T>C	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1589A>G	13.37:g.108862028T>C	ENSP00000349393:p.His530Arg					LIG4_ENST00000405925.1_Missense_Mutation_p.H530R|LIG4_ENST00000442234.1_Missense_Mutation_p.H530R	p.H530R	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	1861	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		530					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.1589A>G	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.821564	0.00589	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.61274	0.12;0.12;0.12	5.58	1.79	0.24919	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.397610	0.27749	N	0.018013	T	0.18964	0.0455	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21690	-1.0238	10	0.17369	T	0.5	.	4.68	0.12731	0.0:0.2304:0.1546:0.6149	.	530	P49917	DNLI4_HUMAN	R	530	ENSP00000385955:H530R;ENSP00000402030:H530R;ENSP00000349393:H530R	ENSP00000349393:H530R	H	-	2	0	LIG4	107660029	0.988000	0.35896	0.011000	0.14972	0.248000	0.25809	1.649000	0.37281	0.373000	0.24621	0.450000	0.29827	CAT		0.418	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		19	66	0	0	0	1	0	19	66					C	108862028	T	C	108862028	3	2	492	1	0	0	0	0	1	0	0	0	8783	1464	51	4	1150	4	LIG4	13	108862028	Missense_Mutation	SNP	T	TCGA-ZG-A9LY-01A-11D-A41K-08	79793063	108862028	6307850	33	32715											
B9D1	27077	broad.mit.edu	37	chr17	19247157	19247157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgtactcgggccgccGccccatgaaccagctgggaa	7	7	13	14	3	1	1	0	1	1	0	2	2	1	2	5	2	3	2	5	2	3	1			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr17:19247157G>A	ENST00000261499.4	-	6	561	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	B9D1_ENST00000477478.2_Silent_p.G115G|B9D1_ENST00000395616.3_Missense_Mutation_p.R140W|B9D1_ENST00000575403.1_Silent_p.G115G|B9D1_ENST00000461069.2_Missense_Mutation_p.R140W|B9D1_ENST00000395615.1_Missense_Mutation_p.R140W|MIR1180_ENST00000408613.1_RNA	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1	140					camera-type eye development (GO:0043010)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|in utero embryonic development (GO:0001701)|neuroepithelial cell differentiation (GO:0060563)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)|vasculature development (GO:0001944)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)	hedgehog receptor activity (GO:0008158)	p.R140W(1)		large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TCGGGCCGCCGCCCCATGAAC	0.617																																						ENST00000461069.2																			1	Substitution - Missense(1)	p.R140W(1)	large_intestine(1)	large_intestine(3)|urinary_tract(1)	4						c.(418-420)Cgg>Tgg		B9 protein domain 1							47	52	51					17																	19247157		2203	4300	6503	SO:0001583	missense	27077				cilium assembly	centrosome|microtubule basal body	protein binding	g.chr17:19247157G>A	BC002944	CCDS11205.1, CCDS58528.1	17p11.2	2014-09-17			ENSG00000108641	ENSG00000108641			24123	protein-coding gene	gene with protein product	"endothelial precursor protein B9"	614144				21493627	Standard	NM_015681		Approved	B9, EPPB9, MKS9	uc010vyr.2	Q9UPM9	OTTHUMG00000059586	ENST00000261499.4:c.418C>T	17.37:g.19247157G>A	ENSP00000261499:p.Arg140Trp					B9D1_ENST00000395615.1_Missense_Mutation_p.R140W|B9D1_ENST00000477478.2_Silent_p.G115G|B9D1_ENST00000395616.3_Missense_Mutation_p.R140W|B9D1_ENST00000261499.4_Missense_Mutation_p.R140W|B9D1_ENST00000575403.1_Silent_p.G115G	p.R140W			Q9UPM9	B9D1_HUMAN			6	462	-	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)		140					Q9BU22	Missense_Mutation	SNP	ENST00000261499.4	37	c.418C>T	CCDS11205.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979830	0.74360	.	.	ENSG00000108641	ENST00000395615;ENST00000261499;ENST00000395616	T;T;T	0.70631	-0.5;-0.5;-0.5	4.72	4.72	0.59763	.	0.232405	0.42682	D	0.000676	D	0.84566	0.5500	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.86433	0.1762	10	0.66056	D	0.02	.	10.5789	0.45244	0.0:0.0:0.7525:0.2475	.	140	Q9UPM9	B9D1_HUMAN	W	140	ENSP00000378977:R140W;ENSP00000261499:R140W;ENSP00000378978:R140W	ENSP00000261499:R140W	R	-	1	2	B9D1	19187750	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.561000	0.60809	2.447000	0.82792	0.549000	0.68633	CGG		0.617	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132494.1	NM_015681		7	34	0	0	0	1	0	7	34					A	19247157	G	A	19247157	3	1	492	1	0	0	0	0	1	0	0	0	1277	1086	38	1	204	1	B9D1	17	19247157	Missense_Mutation	SNP	G	TCGA-ZG-A9LY-01A-11D-A41K-08		19247157	61948053	34	32716											
CACNA1A	773	broad.mit.edu	37	chr19	13414687	13414687	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacctcgttccagtcttcGcccgtcaggatctgaaaggg	8	10	11	12	3	3	2	1	2	2	0	6	3	4	3	3	2	0	1	3	2	1	2	rs373695561		TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr19:13414687G>A	ENST00000360228.5	-	16	1997	c.1998C>T	c.(1996-1998)ggC>ggT	p.G666G	CACNA1A_ENST00000573710.2_Silent_p.G667G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	667			T -> M (in FHM1 and EA2; dbSNP:rs121908212). {ECO:0000269|PubMed:11439943, ECO:0000269|PubMed:14718690, ECO:0000269|PubMed:8898206}.		adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCAGTCTTCGCCCGTCAGGA	0.592																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(1996-1998)ggC>ggT		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	G	,,,,	1,4019		0,1,2009	128	131	130		2001,2001,1998,2001,2001	-6.3	0.9	19		130	1,8339		0,1,4169	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	0,2,6178	AA,AG,GG		0.012,0.0249,0.0162	,,,,	667/2267,667/2262,666/2507,667/2264,667/2513	13414687	2,12358	2010	4170	6180	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13414687G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1998C>T	19.37:g.13414687G>A						CACNA1A_ENST00000573710.2_Silent_p.G667G	p.G666G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		16	1997	-			667		T -> M (in FHM1 and EA2; dbSNP:rs121908212).			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.1998C>T	CCDS45998.1																																																																																				0.592	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		20	92	0	0	0	1	0	20	92					A	13414687	G	A	13414687	2	1	492	1	0	0	0	0	0	0	0	1	2538	1074	38	1		1	CACNA1A	19	13414687	Silent	SNP	G	TCGA-ZG-A9LY-01A-11D-A41K-08		13414687	45714296	35	32717											
TMEM145	284339	broad.mit.edu	37	chr19	42821926	42821926	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctacgggctcattggactGcaggtggcggcctacgtgtg	5	9	17	10	3	1	0	1	0	0	0	1	1	1	1	1	6	3	3	1	6	2	3			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr19:42821926G>A	ENST00000301204.3	+	12	1007	c.966G>A	c.(964-966)ctG>ctA	p.L322L	TMEM145_ENST00000598766.1_Silent_p.L346L	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	322					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				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)				TCATTGGACTGCAGGTGGCGG	0.567																																						ENST00000598766.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(1036-1038)ctG>ctA		transmembrane protein 145							157	122	134					19																	42821926		2203	4300	6503	SO:0001819	synonymous_variant	284339					integral to membrane		g.chr19:42821926G>A	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.966G>A	19.37:g.42821926G>A						TMEM145_ENST00000301204.3_Silent_p.L322L	p.L346L			Q8NBT3	TM145_HUMAN			12	1038	+		Prostate(69;0.00682)	322						Silent	SNP	ENST00000301204.3	37	c.1038G>A	CCDS12603.1																																																																																				0.567	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		3	43	0	0	0	1	0	3	43					A	42821926	G	A	42821926	2	1	492	1	0	0	0	0	0	0	0	1	16056	1306	46	3		3	TMEM145	19	42821926	Silent	SNP	G	TCGA-ZG-A9LY-01A-11D-A41K-08	29407239	42821926	16307057	36	32718											
NLRP7	199713	broad.mit.edu	37	chr19	55450938	55450938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggccctgcgcggccaggaGgctcagcgtccgcagcgcgc	5	3	16	17	6	1	0	1	0	0	0	2	1	2	1	3	4	3	2	3	4	0	0			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr19:55450938G>A	ENST00000590030.1	-	3	1289	c.1249C>T	c.(1249-1251)Ctc>Ttc	p.L417F	NLRP7_ENST00000340844.2_Missense_Mutation_p.L417F|NLRP7_ENST00000328092.5_Missense_Mutation_p.L417F|NLRP7_ENST00000446217.1_Missense_Mutation_p.L445F|NLRP7_ENST00000448121.2_Missense_Mutation_p.L417F|NLRP7_ENST00000592784.1_Missense_Mutation_p.L417F|NLRP7_ENST00000588756.1_Missense_Mutation_p.L417F			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	417	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			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)		GCGGCCAGGAGGCTCAGCGTC	0.706																																						ENST00000588756.1																			0				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						c.(1249-1251)Ctc>Ttc		NLR family, pyrin domain containing 7							19	16	17					19																	55450938		2186	4265	6451	SO:0001583	missense	199713						ATP binding	g.chr19:55450938G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1249C>T	19.37:g.55450938G>A	ENSP00000465520:p.Leu417Phe					NLRP7_ENST00000592784.1_Missense_Mutation_p.L417F|NLRP7_ENST00000590030.1_Missense_Mutation_p.L417F|NLRP7_ENST00000328092.5_Missense_Mutation_p.L417F|NLRP7_ENST00000340844.2_Missense_Mutation_p.L417F|NLRP7_ENST00000446217.1_Missense_Mutation_p.L445F|NLRP7_ENST00000448121.2_Missense_Mutation_p.L417F	p.L417F			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1735	-			417			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1249C>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	G	7.393	0.631184	0.14322	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.73469	-0.69;-0.69;-0.75;-0.71	2.06	-0.165	0.13355	.	0.666605	0.11552	N	0.552629	T	0.58892	0.2154	L	0.33485	1.01	0.09310	N	1	B;B;B;P	0.36990	0.043;0.024;0.024;0.577	B;B;B;B	0.43123	0.017;0.038;0.038;0.409	T	0.48293	-0.9048	10	0.09843	T	0.71	.	2.206	0.03935	0.2997:0.0:0.4514:0.2489	.	445;417;417;417	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	F	417;417;417;445;184	ENSP00000329568:L417F;ENSP00000409137:L417F;ENSP00000339491:L417F;ENSP00000414273:L445F	ENSP00000329568:L417F	L	-	1	0	NLRP7	60142750	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	0.422000	0.21296	0.032000	0.15435	-1.721000	0.00707	CTC		0.706	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		6	24	0	0	0	1	0	6	24					A	55450938	G	A	55450938	3	1	492	1	0	0	0	0	1	0	0	0	10482	1000	35	3	1896	3	NLRP7	19	55450938	Missense_Mutation	SNP	G	TCGA-ZG-A9LY-01A-11D-A41K-08	12629012	55450938	3678045	37	32719											
TM9SF4	9777	broad.mit.edu	37	chr20	30732918	30732918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaagcagatgagaagagttCgtgcactctgcctgagggta	12	8	13	8	1	1	4	0	2	1	3	2	5	1	4	1	1	3	4	1	1	3	2			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chr20:30732918C>T	ENST00000398022.2	+	7	912	c.677C>T	c.(676-678)tCg>tTg	p.S226L	TM9SF4_ENST00000217315.5_Missense_Mutation_p.S209L	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	226						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGAAGAGTTCGTGCACTCTG	0.562																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(625-627)tCg>tTg		transmembrane 9 superfamily protein member 4							113	101	105					20																	30732918		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30732918C>T	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.677C>T	20.37:g.30732918C>T	ENSP00000381104:p.Ser226Leu					TM9SF4_ENST00000398022.2_Missense_Mutation_p.S226L	p.S209L			Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		7	966	+			226					B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.626C>T	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	C	15.85	2.956136	0.53293	.	.	ENSG00000101337	ENST00000398022;ENST00000421148;ENST00000217315	T;T	0.45276	0.9;0.9	5.51	5.51	0.81932	.	0.293148	0.31922	N	0.006841	T	0.31358	0.0794	L	0.33753	1.03	0.41104	D	0.985695	B;B;B	0.15141	0.012;0.001;0.001	B;B;B	0.12837	0.008;0.002;0.005	T	0.06752	-1.0809	10	0.27785	T	0.31	-3.7744	11.3871	0.49791	0.0:0.9119:0.0:0.0881	.	152;133;226	F5H3B5;B4DH88;Q92544	.;.;TM9S4_HUMAN	L	226;152;209	ENSP00000381104:S226L;ENSP00000217315:S209L	ENSP00000217315:S209L	S	+	2	0	TM9SF4	30196579	0.339000	0.24784	0.998000	0.56505	0.869000	0.49853	4.077000	0.57598	2.873000	0.98535	0.561000	0.74099	TCG		0.562	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		8	30	0	0	0	1	0	8	30					T	30732918	C	T	30732918	3	4	492	1	0	0	0	0	1	0	0	0	15977	893	31	2	703	2	TM9SF4	20	30732918	Missense_Mutation	SNP	C	TCGA-ZG-A9LY-01A-11D-A41K-08		30732918	32292602	38	32720											
SHROOM2	357	broad.mit.edu	37	chrX	9900641	9900641	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtccctggatgtgtatgtGgcccgcctgtccctctccca	3	11	11	16	2	1	0	0	0	1	0	4	1	3	1	5	2	0	1	5	2	1	1			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chrX:9900641G>T	ENST00000380913.3	+	6	3408	c.3318G>T	c.(3316-3318)gtG>gtT	p.V1106V	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1106					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				ATGTGTATGTGGCCCGCCTGT	0.672																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(3316-3318)gtG>gtT		shroom family member 2							48	42	44					X																	9900641		2203	4300	6503	SO:0001819	synonymous_variant	357				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	g.chrX:9900641G>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3318G>T	X.37:g.9900641G>T						SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	p.V1106V	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			6	3408	+		Hepatocellular(5;0.000888)	1106					B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.3318G>T	CCDS14135.1																																																																																				0.672	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		7	12	1	0	0.00198382	1	0.00198382	7	12					T	9900641	G	T	9900641	2	4	492	1	0	0	0	0	0	0	0	1	14294	1335	47	5		5	SHROOM2	23	9900641	Silent	SNP	G	TCGA-ZG-A9LY-01A-11D-A41K-08		9900641	145369919	39	32721											
PHF16	9767	broad.mit.edu	37	chrX	46913789	46913789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgggcacagaagcttcGggagctggaggaggagttct	8	7	17	9	2	1	1	0	0	1	1	2	5	1	5	1	5	3	4	1	5	1	2			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chrX:46913789G>A	ENST00000218343.4	+	9	1500	c.1202G>A	c.(1201-1203)cGg>cAg	p.R401Q	PHF16_ENST00000397189.1_Missense_Mutation_p.R401Q	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CAGAAGCTTCGGGAGCTGGAG	0.542																																						ENST00000218343.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(1201-1203)cGg>cAg									63	60	61					X																	46913789		2203	4300	6503	SO:0001583	missense	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46913789G>A																												ENST00000218343.4:c.1202G>A	X.37:g.46913789G>A	ENSP00000218343:p.Arg401Gln					PHF16_ENST00000397189.1_Missense_Mutation_p.R401Q	p.R401Q	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN			9	1500	+			401						Missense_Mutation	SNP	ENST00000218343.4	37	c.1202G>A	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	2.449	-0.326853	0.05350	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.46819	0.86;0.86	4.99	2.05	0.26809	.	0.448812	0.25068	N	0.033393	T	0.17916	0.0430	N	0.03948	-0.315	0.23271	N	0.998008	B	0.11235	0.004	B	0.08055	0.003	T	0.31943	-0.9925	10	0.02654	T	1	.	8.078	0.30729	0.3543:0.0:0.6457:0.0	.	401	Q92613	JADE3_HUMAN	Q	401	ENSP00000380373:R401Q;ENSP00000218343:R401Q	ENSP00000218343:R401Q	R	+	2	0	PHF16	46798733	1.000000	0.71417	0.188000	0.23233	0.966000	0.64601	2.465000	0.45075	0.047000	0.15862	-0.208000	0.12717	CGG		0.542	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			9	17	0	0	0	1	0	9	17					A	46913789	G	A	46913789	3	1	492	1	0	0	0	0	1	0	0	0	11827	1116	39	2	1232	2	PHF16	23	46913789	Missense_Mutation	SNP	G	TCGA-ZG-A9LY-01A-11D-A41K-08	37013148	46913789	108356771	40	32722											
SLC6A14	11254	broad.mit.edu	37	chrX	115576109	115576109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcgctccaacggtcaaGtggaatgaatgagactggag	12	7	15	7	2	1	2	1	2	0	1	2	5	2	4	1	4	1	1	1	4	4	0			TCGA-ZG-A9LY-01A-11D-A41K-08	TCGA-ZG-A9LY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a1f1c7e-8d3b-4323-a37d-767b65089dbf	5c2da700-8b1e-4ca3-8960-f8f0028ca0d8	g.chrX:115576109G>A	ENST00000371900.4	+	6	768	c.680G>A	c.(679-681)aGt>aAt	p.S227N		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	227					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CAACGGTCAAGTGGAATGAAT	0.368																																						ENST00000371900.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(679-681)aGt>aAt		solute carrier family 6 (amino acid transporter), member 14	L-Proline(DB00172)						255	206	222					X																	115576109		2203	4300	6503	SO:0001583	missense	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115576109G>A	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.680G>A	X.37:g.115576109G>A	ENSP00000360967:p.Ser227Asn						p.S227N	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN			6	768	+			227					Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	c.680G>A	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	g	13.53	2.263827	0.39995	.	.	ENSG00000087916	ENST00000371900	T	0.74632	-0.86	5.69	3.93	0.45458	.	0.081846	0.85682	N	0.000000	T	0.63367	0.2505	L	0.35723	1.085	0.25157	N	0.990383	B	0.17852	0.024	B	0.16722	0.016	T	0.54899	-0.8224	10	0.48119	T	0.1	.	9.5536	0.39326	0.1748:0.0:0.8252:0.0	.	227	Q9UN76	S6A14_HUMAN	N	227	ENSP00000360967:S227N	ENSP00000360967:S227N	S	+	2	0	SLC6A14	115490137	0.999000	0.42202	0.997000	0.53966	0.839000	0.47603	1.517000	0.35867	0.577000	0.29470	0.540000	0.68198	AGT		0.368	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			10	19	0	0	0	1	0	10	19					A	115576109	G	A	115576109	3	1	492	1	0	0	0	0	1	0	0	0	14677	1029	36	3	702	3	SLC6A14	23	115576109	Missense_Mutation	SNP	G	TCGA-ZG-A9LY-01A-11D-A41K-08	68662320	115576109	39694451	41	32723											
HPCA	3208	broad.mit.edu	37	chr1	33359401	33359401	+	Frame_Shift_Del	DEL	A	A	-																															aggagttcatccgcggggccAaaagcgacccgtccatcgtg																										TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr1:33359401delA	ENST00000373467.3	+	4	622	c.520delA	c.(520-522)aaafs	p.K174fs	TMEM54_ENST00000475208.1_5'Flank	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	174	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inner ear development (GO:0048839)		actin binding (GO:0003779)|calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCGCGGGGCCAAAAGCGACCC	0.692																																						ENST00000373467.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(520-522)aafs		hippocalcin							30	26	27					1																	33359401		2198	4294	6492	SO:0001589	frameshift_variant	3208						actin binding|calcium ion binding	g.chr1:33359401delA	BC001777	CCDS370.1	1p35-p34.2	2013-01-10			ENSG00000121905	ENSG00000121905		"EF-hand domain containing"	5144	protein-coding gene	gene with protein product		142622				8166736, 9931466	Standard	NM_002143		Approved		uc001bwh.3	P84074	OTTHUMG00000004017	ENST00000373467.3:c.520delA	1.37:g.33359401delA	ENSP00000362566:p.Lys174fs						p.K174fs	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN			4	622	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	174			EF-hand 4.		B2R9T3|D3DPQ7|P32076|P41211|P70510	Frame_Shift_Del	DEL	ENST00000373467.3	37	c.520delA	CCDS370.1																																																																																				0.692	HPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011480.1	NM_002143		2	4						2	4	---	---	---	---	-	33359401	A	-	33359401	7	5	493	1	0	1	0	1	0	0	0	0	7329	131	5	0	530	0	HPCA	1	33359401	Frame_Shift_Del	DEL	A	TCGA-ZG-A9LZ-01A-11D-A41K-08		33359401	215891220	1	32724											
DHCR24	1718	broad.mit.edu	37	chr1	55337177	55337177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccccgcactggctcgaaaCgcagcttgacgtacttcttg	7	9	11	14	4	1	1	0	1	1	0	2	2	1	1	2	2	3	5	2	2	2	4			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr1:55337177C>T	ENST00000371269.3	-	5	820	c.722G>A	c.(721-723)cGt>cAt	p.R241H	DHCR24_ENST00000537443.1_Missense_Mutation_p.R73H|DHCR24_ENST00000535035.1_Missense_Mutation_p.R200H	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	241					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						TGGCTCGAAACGCAGCTTGAC	0.607																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(721-723)cGt>cAt		24-dehydrocholesterol reductase							80	74	76					1																	55337177		2203	4300	6503	SO:0001583	missense	1718				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	g.chr1:55337177C>T	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.722G>A	1.37:g.55337177C>T	ENSP00000360316:p.Arg241His					DHCR24_ENST00000535035.1_Missense_Mutation_p.R200H|DHCR24_ENST00000537443.1_Missense_Mutation_p.R73H	p.R241H	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN			5	820	-			241					B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	ENST00000371269.3	37	c.722G>A	CCDS600.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304770	0.23736	.	.	ENSG00000116133	ENST00000371269;ENST00000537443;ENST00000535035	D;D;D	0.93426	-3.21;-2.17;-3.22	5.31	3.08	0.35506	.	0.239616	0.42548	D	0.000696	T	0.74839	0.3769	N	0.00841	-1.15	0.33444	D	0.58284	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.70988	-0.4722	10	0.41790	T	0.15	0.0126	2.3237	0.04217	0.227:0.4329:0.0:0.3401	.	200;200;241	B7Z817;B7ZAV4;Q15392	.;.;DHC24_HUMAN	H	241;73;200	ENSP00000360316:R241H;ENSP00000439852:R73H;ENSP00000440191:R200H	ENSP00000360316:R241H	R	-	2	0	DHCR24	55109765	0.136000	0.22515	0.911000	0.35937	0.299000	0.27559	0.503000	0.22610	1.401000	0.46761	-0.119000	0.15052	CGT		0.607	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		16	7	0	0	0	1	0	16	7					T	55337177	C	T	55337177	3	4	493	1	0	0	0	0	1	0	0	0	4476	536	19	1	848	1	DHCR24	1	55337177	Missense_Mutation	SNP	C	TCGA-ZG-A9LZ-01A-11D-A41K-08	21977776	55337177	193913444	2	32725											
CLCA2	9635	broad.mit.edu	37	chr1	86900300	86900300	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggatgtaatcacagacTctgctgactttcaccacagc	11	10	8	12	0	3	2	2	1	1	1	3	3	3	3	1	1	2	2	1	1	1	2			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr1:86900300T>G	ENST00000370565.4	+	6	1006	c.844T>G	c.(844-846)Tct>Gct	p.S282A		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	282					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AATCACAGACTCTGCTGACTT	0.483																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(844-846)Tct>Gct		chloride channel accessory 2							209	178	189					1																	86900300		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86900300T>G		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.844T>G	1.37:g.86900300T>G	ENSP00000359596:p.Ser282Ala						p.S282A	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	6	1006	+		Lung NSC(277;0.238)	282					A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.844T>G	CCDS708.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.137581	0.77775	.	.	ENSG00000137975	ENST00000370565	T	0.03524	3.9	6.17	6.17	0.99709	.	0.144152	0.50627	D	0.000104	T	0.14013	0.0339	M	0.89287	3.02	0.38353	D	0.944395	D	0.76494	0.999	D	0.65874	0.939	T	0.03077	-1.1075	10	0.38643	T	0.18	-21.1257	16.4837	0.84171	0.0:0.0:0.0:1.0	.	282	Q9UQC9	CLCA2_HUMAN	A	282	ENSP00000359596:S282A	ENSP00000359596:S282A	S	+	1	0	CLCA2	86672888	0.990000	0.36364	0.466000	0.27168	0.070000	0.16714	4.116000	0.57871	2.371000	0.80710	0.533000	0.62120	TCT		0.483	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		6	70	0	0	0	1	0	6	70					G	86900300	T	G	86900300	3	3	493	1	0	0	0	0	1	0	0	0	3458	1551	54	5	866	5	CLCA2	1	86900300	Missense_Mutation	SNP	T	TCGA-ZG-A9LZ-01A-11D-A41K-08	31563123	86900300	162350321	3	32726											
SPTA1	6708	broad.mit.edu	37	chr1	158608028	158608028	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtattcaggtccttgagtgCatcctagaaagtctcgggat	9	13	11	8	1	2	2	1	1	1	1	5	3	4	3	2	2	1	2	2	2	3	4			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr1:158608028C>A	ENST00000368147.4	-	36	5164	c.4984G>T	c.(4984-4986)Gca>Tca	p.A1662S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1662					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			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)					TCCTTGAGTGCATCCTAGAAA	0.428																																						ENST00000368148.3																			0				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						c.(4984-4986)Gca>Tca		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							64	60	61					1																	158608028		1882	4110	5992	SO:0001583	missense	6708				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	g.chr1:158608028C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4984G>T	1.37:g.158608028C>A	ENSP00000357129:p.Ala1662Ser					SPTA1_ENST00000368147.3_Missense_Mutation_p.A1662S	p.A1662S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			36	5164	-	all_hematologic(112;0.0378)		1662					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4984G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312800	0.40895	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49139	0.79;0.79	5.24	0.84	0.18912	.	0.277026	0.19389	N	0.115459	T	0.17534	0.0421	L	0.46157	1.445	0.09310	N	1	B	0.29115	0.233	B	0.33121	0.158	T	0.16453	-1.0402	10	0.41790	T	0.15	.	3.2872	0.06936	0.2676:0.282:0.3647:0.0857	.	1662	P02549	SPTA1_HUMAN	S	1662	ENSP00000357130:A1662S;ENSP00000357129:A1662S	ENSP00000357129:A1662S	A	-	1	0	SPTA1	156874652	0.984000	0.35163	0.142000	0.22268	0.987000	0.75469	2.964000	0.49192	0.340000	0.23745	0.591000	0.81541	GCA		0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		18	38	1	0	2.35188e-11	1	2.7522e-11	18	38					A	158608028	C	A	158608028	3	1	493	1	0	0	0	0	1	0	0	0	15115	710	25	5	2343	5	SPTA1	1	158608028	Missense_Mutation	SNP	C	TCGA-ZG-A9LZ-01A-11D-A41K-08	71707728	158608028	90642593	4	32727											
CACNA1E	777	broad.mit.edu	37	chr1	181702679	181702679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaagtggggaagcacGtggtgctgacggagcaggag	10	5	20	6	2	0	1	0	1	0	0	0	5	0	5	0	6	4	4	0	6	2	0	rs547399351		TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr1:181702679G>A	ENST00000367573.2	+	21	3055	c.3055G>A	c.(3055-3057)Gtg>Atg	p.V1019M	CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1019M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V626M|CACNA1E_ENST00000526775.1_Missense_Mutation_p.V1000M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V970M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1000M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V951M	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1019					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.V1019M(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGGGAAGCACGTGGTGCTGAC	0.642													G|||	1	0.000199681	8e-04	0	5008	,	,		20352	0		0	False		,,,				2504	0					ENST00000526775.1																			1	Substitution - Missense(1)	p.V1019M(1)	ovary(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2998-3000)Gtg>Atg		calcium channel, voltage-dependent, R type, alpha 1E subunit							46	54	52					1																	181702679		2179	4271	6450	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702679G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3055G>A	1.37:g.181702679G>A	ENSP00000356545:p.Val1019Met					CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1019M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1019M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V951M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V626M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V970M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1000M	p.V1000M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			20	3163	+			1019					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2998G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	6.503	0.461044	0.12342	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96200	-3.88;-3.87;-3.88;-3.87;-3.94;-3.88;-3.88	4.72	-1.64	0.08318	.	1.749810	0.02299	N	0.070996	D	0.87916	0.6298	N	0.08118	0	0.09310	N	1	P;B;B	0.36733	0.567;0.431;0.001	B;B;B	0.26310	0.068;0.032;0.001	T	0.80491	-0.1359	10	0.33141	T	0.24	.	12.1674	0.54138	0.4047:0.0:0.5953:0.0	.	1000;1019;1019	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	M	1019;1000;970;951;626;1000;1019	ENSP00000356542:V1019M;ENSP00000434814:V1000M;ENSP00000350183:V970M;ENSP00000351101:V951M;ENSP00000356539:V626M;ENSP00000353222:V1000M;ENSP00000356545:V1019M	ENSP00000350183:V970M	V	+	1	0	CACNA1E	179969302	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.171000	0.16685	-0.490000	0.06707	-1.598000	0.00824	GTG		0.642	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		15	20	0	0	0	1	0	15	20					A	181702679	G	A	181702679	3	1	493	1	0	0	0	0	1	0	0	0	2542	1145	40	1	3137	1	CACNA1E	1	181702679	Missense_Mutation	SNP	G	TCGA-ZG-A9LZ-01A-11D-A41K-08	23094651	181702679	67547942	5	32728											
MBD5	55777	broad.mit.edu	37	chr2	149221402	149221402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagctatgcatacataaaaGaaaaattattgcagtggcca	19	9	7	6	0	0	1	0	0	0	1	0	1	0	1	1	1	4	3	1	1	8	5			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr2:149221402G>A	ENST00000407073.1	+	8	1308	c.311G>A	c.(310-312)aGa>aAa	p.R104K	MBD5_ENST00000404807.1_Missense_Mutation_p.R104K	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	104					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			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)		ATACATAAAAGAAAAATTATT	0.428																																						ENST00000407073.1																			0				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						c.(310-312)aGa>aAa		methyl-CpG binding domain protein 5							83	88	86					2																	149221402		2203	4299	6502	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149221402G>A	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.311G>A	2.37:g.149221402G>A	ENSP00000386049:p.Arg104Lys					MBD5_ENST00000404807.1_Missense_Mutation_p.R104K	p.R104K	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	8	1308	+			104					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.311G>A	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274950	0.95459	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.68025	-0.29;-0.3	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000001	T	0.81103	0.4753	M	0.61703	1.905	0.80722	D	1	D	0.61697	0.99	D	0.73380	0.98	T	0.80407	-0.1395	10	0.59425	D	0.04	-9.1396	20.2825	0.98528	0.0:0.0:1.0:0.0	.	104	Q9P267	MBD5_HUMAN	K	104	ENSP00000386049:R104K;ENSP00000384672:R104K	ENSP00000384672:R104K	R	+	2	0	MBD5	148937872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.873000	0.98535	0.561000	0.74099	AGA		0.428	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			26	33	0	0	0	1	0	26	33					A	149221402	G	A	149221402	3	1	493	1	0	0	0	0	1	0	0	0	9347	942	33	3	321	3	MBD5	2	149221402	Missense_Mutation	SNP	G	TCGA-ZG-A9LZ-01A-11D-A41K-08		149221402	93977971	6	32729											
HOXD9	3235	broad.mit.edu	37	chr2	176987556	176987556	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggcaccctcagcaactaCtacgtggactcgcttatagg	10	9	10	12	2	1	0	1	0	0	0	2	1	1	1	1	3	4	3	1	3	5	4			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr2:176987556C>A	ENST00000249499.6	+	1	469	c.60C>A	c.(58-60)taC>taA	p.Y20*	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	20					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TCAGCAACTACTACGTGGACT	0.692																																					GBM(47;924 952 7959 9248 12176)	ENST00000249499.6																			0				endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10						c.(58-60)taC>taA		homeobox D9							31	31	31					2																	176987556		2203	4300	6503	SO:0001587	stop_gained	3235					nucleus	sequence-specific DNA binding	g.chr2:176987556C>A		CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"Homeoboxes / ANTP class : HOXL subclass"	5140	protein-coding gene	gene with protein product		142982	"homeo box D9"	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.60C>A	2.37:g.176987556C>A	ENSP00000249499:p.Tyr20*					HOXD-AS2_ENST00000440016.2_RNA	p.Y20*	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	469	+			20					Q86ST1	Nonsense_Mutation	SNP	ENST00000249499.6	37	c.60C>A	CCDS2267.2	.	.	.	.	.	.	.	.	.	.	C	38	6.879020	0.97904	.	.	ENSG00000128709	ENST00000249499	.	.	.	4.3	3.42	0.39159	.	0.337787	0.21560	N	0.072594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5391	0.27727	0.0:0.7184:0.0:0.2816	.	.	.	.	X	20	.	ENSP00000249499:Y20X	Y	+	3	2	HOXD9	176695802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.966000	0.29331	1.153000	0.42468	0.511000	0.50034	TAC		0.692	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4			6	13	1	0	3.59834e-05	1	3.80593e-05	6	13					A	176987556	C	A	176987556	4	1	493	1	0	0	0	0	0	1	0	0	7326	576	20	5	62	5	HOXD9	2	176987556	Nonsense_Mutation	SNP	C	TCGA-ZG-A9LZ-01A-11D-A41K-08	27766154	176987556	66211817	7	32730											
ATIC	471	broad.mit.edu	37	chr2	216189998	216189998	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctatccctttgtaaagAcagtggcttctccaggtgta	9	14	8	10	0	2	1	0	0	2	1	5	1	3	1	2	2	0	3	2	2	4	5			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr2:216189998A>G	ENST00000236959.9	+	5	651	c.325A>G	c.(325-327)Aca>Gca	p.T109A	ATIC_ENST00000435675.1_Missense_Mutation_p.T108A|ATIC_ENST00000540518.1_Missense_Mutation_p.T50A	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	109					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CTTTGTAAAGACAGTGGCTTC	0.408			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(322-324)Aca>Gca		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						122	122	122					2																	216189998		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216189998A>G		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.325A>G	2.37:g.216189998A>G	ENSP00000236959:p.Thr109Ala					ATIC_ENST00000540518.1_Missense_Mutation_p.T50A|ATIC_ENST00000236959.9_Missense_Mutation_p.T109A	p.T108A			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	4	713	+		Renal(323;0.229)	109					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.322A>G	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.826889	0.50739	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675;ENST00000413174	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.87	5.87	0.94306	Methylglyoxal synthase-like domain (4);	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	M	0.70595	2.14	0.80722	D	1	B;B	0.25169	0.119;0.046	B;B	0.28784	0.082;0.094	T	0.81385	-0.0957	10	0.54805	T	0.06	-4.0078	16.2377	0.82389	1.0:0.0:0.0:0.0	.	108;109	E9PBU3;P31939	.;PUR9_HUMAN	A	109;50;108;50	ENSP00000236959:T109A;ENSP00000440523:T50A;ENSP00000415935:T108A;ENSP00000402393:T50A	ENSP00000236959:T109A	T	+	1	0	ATIC	215898243	1.000000	0.71417	0.998000	0.56505	0.339000	0.28857	7.303000	0.78871	2.371000	0.80710	0.533000	0.62120	ACA		0.408	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		30	47	0	0	0	1	0	30	47					G	216189998	A	G	216189998	3	3	493	1	0	0	0	0	1	0	0	0	1105	275	10	4	343	4	ATIC	2	216189998	Missense_Mutation	SNP	A	TCGA-ZG-A9LZ-01A-11D-A41K-08	39202442	216189998	27009375	8	32731											
NGEF	25791	broad.mit.edu	37	chr2	233792687	233792687	+	Intron	DEL	A	A	-																															ccacggcgcaggcggcgctgAaggcagcggccagcagctcc																										TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr2:233792687delA	ENST00000264051.3	-	4	662				NGEF_ENST00000409079.1_Frame_Shift_Del_p.F8fs|NGEF_ENST00000373552.4_Frame_Shift_Del_p.F8fs	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor						apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GGCGGCGCTGAAGGCAGCGGC	0.781																																						ENST00000373552.4																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(22-24)tcfs		neuronal guanine nucleotide exchange factor							2	2	2					2																	233792687		1071	2669	3740	SO:0001627	intron_variant	25791				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	g.chr2:233792687delA	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.384-791T>-	2.37:g.233792687delA						NGEF_ENST00000409079.1_Frame_Shift_Del_p.F8fs|NGEF_ENST00000264051.3_Intron	p.F8fs	NM_001114090.1	NP_001107562.1	Q8N5V2	NGEF_HUMAN		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)	1	177	-		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)	0			Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Frame_Shift_Del	DEL	ENST00000264051.3	37	c.23delT	CCDS2500.1																																																																																				0.781	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		2	4						2	4	---	---	---	---	-	233792687	A	-	233792687	6	5	493	0	1	1	0	1	0	0	0	0	10394	246	9	0		0	NGEF	2	233792687	Intron	DEL	A	TCGA-ZG-A9LZ-01A-11D-A41K-08	17602689	233792687	9406686	9	32732											
GPR125	166647	broad.mit.edu	37	chr4	22414907	22414907	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacttccagcctccttgtccGttcagcaaatcgaaatccca	10	10	6	15	2	1	0	1	0	0	0	6	2	5	0	5	0	2	2	5	0	2	3			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr4:22414907G>A	ENST00000334304.5	-	14	2399	c.2130C>T	c.(2128-2130)aaC>aaT	p.N710N	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	710	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			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)				CTCCTTGTCCGTTCAGCAAAT	0.453																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2128-2130)aaC>aaT		G protein-coupled receptor 125							170	166	167					4																	22414907		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22414907G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2130C>T	4.37:g.22414907G>A						GPR125_ENST00000282943.5_5'UTR	p.N710N	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			14	2399	-		Breast(46;0.198)	710			GPS.		Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.2130C>T	CCDS33964.1																																																																																				0.453	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			4	85	0	0	0	1	0	4	85					A	22414907	G	A	22414907	2	1	493	1	0	0	0	0	0	0	0	1	6639	1136	40	1		1	GPR125	4	22414907	Silent	SNP	G	TCGA-ZG-A9LZ-01A-11D-A41K-08		22414907	168739369	10	32733											
IL8	3576	broad.mit.edu	37	chr4	74606394	74606394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgacttccaagctggccGtggctctcttggcagccttc	6	11	10	14	1	1	1	0	1	1	0	4	1	2	1	3	3	2	3	3	3	1	3			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr4:74606394G>T	ENST00000307407.3	+	1	172	c.19G>T	c.(19-21)Gtg>Ttg	p.V7L	IL8_ENST00000401931.1_Missense_Mutation_p.V7L	NM_000584.3	NP_000575.1	P10145	IL8_HUMAN		7					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of neutrophil chemotaxis (GO:0090023)|receptor internalization (GO:0031623)|regulation of cell adhesion (GO:0030155)|regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091)|response to endoplasmic reticulum stress (GO:0034976)|response to molecule of bacterial origin (GO:0002237)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|interleukin-8 receptor binding (GO:0005153)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6	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)		CAAGCTGGCCGTGGCTCTCTT	0.488																																						ENST00000307407.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6						c.(19-21)Gtg>Ttg		interleukin 8	Ketoprofen(DB01009)|Salbutamol(DB01001)|Simvastatin(DB00641)|Zileuton(DB00744)						230	213	219					4																	74606394		2203	4300	6503	SO:0001583	missense	0				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	g.chr4:74606394G>T																												ENST00000307407.3:c.19G>T	4.37:g.74606394G>T	ENSP00000306512:p.Val7Leu					IL8_ENST00000401931.1_Missense_Mutation_p.V7L	p.V7L	NM_000584.3	NP_000575.1	P10145	IL8_HUMAN	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)	1	172	+	Breast(15;0.00102)		7					B2R4L8|Q6FGF6|Q6LAE6|Q96RG6|Q9C077|Q9UCE1|Q9UCR8|Q9UCR9|Q9UCS0	Missense_Mutation	SNP	ENST00000307407.3	37	c.19G>T	CCDS34005.1	.	.	.	.	.	.	.	.	.	.	G	6.833	0.522951	0.13066	.	.	ENSG00000169429	ENST00000307407;ENST00000401931	T;T	0.04454	3.73;3.62	5.79	-5.21	0.02815	.	1.177220	0.05939	N	0.636582	T	0.02494	0.0076	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.45789	-0.9237	9	0.27082	T	0.32	-1.2703	1.6977	0.02866	0.4569:0.1029:0.1995:0.2406	.	7;7	C9J4T6;P10145	.;IL8_HUMAN	L	7	ENSP00000306512:V7L;ENSP00000385908:V7L	ENSP00000306512:V7L	V	+	1	0	IL8	74825258	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.814000	0.04486	-1.136000	0.02892	-0.156000	0.13503	GTG		0.488	IL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322211.1			8	117	1	0	1.58986e-06	1	1.71456e-06	8	117					T	74606394	G	T	74606394	3	4	493	1	0	0	0	0	1	0	0	0	7706	1145	40	5	21	5	IL8	4	74606394	Missense_Mutation	SNP	G	TCGA-ZG-A9LZ-01A-11D-A41K-08	52191487	74606394	116547882	11	32734											
DMGDH	29958	broad.mit.edu	37	chr5	78351638	78351638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaaatgcctttacctgacCagtttcttcttccagtttct	7	18	5	11	0	3	1	0	1	3	0	4	1	4	1	4	0	2	3	4	0	3	7			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr5:78351638C>A	ENST00000255189.3	-	3	398	c.370G>T	c.(370-372)Ggt>Tgt	p.G124C	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000520388.1_5'Flank	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	124					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		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)		TTTACCTGACCAGTTTCTTCT	0.348																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(370-372)Ggt>Tgt		dimethylglycine dehydrogenase							93	95	94					5																	78351638		2202	4298	6500	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78351638C>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.370G>T	5.37:g.78351638C>A	ENSP00000255189:p.Gly124Cys					DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron	p.G124C	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	3	398	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	124					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.370G>T	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207893	0.95033	.	.	ENSG00000132837	ENST00000255189	D	0.85088	-1.94	6.16	6.16	0.99307	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.94578	0.8253	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94521	0.7727	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	124	Q9UI17	M2GD_HUMAN	C	124	ENSP00000255189:G124C	ENSP00000255189:G124C	G	-	1	0	DMGDH	78387394	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	7.692000	0.84203	2.937000	0.99478	0.650000	0.86243	GGT		0.348	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		4	15	1	0	0.150653	1	0.150653	4	15					A	78351638	C	A	78351638	3	1	493	1	0	0	0	0	1	0	0	0	4581	594	21	5	2286	5	DMGDH	5	78351638	Missense_Mutation	SNP	C	TCGA-ZG-A9LZ-01A-11D-A41K-08		78351638	102563622	12	32735											
EBF1	1879	broad.mit.edu	37	chr5	158223441	158223441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagtcgcacctcccgtcGtccatccttcactcgggctg	5	10	8	18	4	2	0	2	0	0	0	8	0	5	0	4	1	0	2	4	1	0	1			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr5:158223441G>A	ENST00000313708.6	-	9	1103	c.821C>T	c.(820-822)aCg>aTg	p.T274M	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.T266M|EBF1_ENST00000380654.4_Missense_Mutation_p.T243M	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	274	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCTCCCGTCGTCCATCCTTC	0.468			T	HMGA2	lipoma																																	ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(820-822)aCg>aTg		early B-cell factor 1							123	100	108					5																	158223441		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158223441G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.821C>T	5.37:g.158223441G>A	ENSP00000322898:p.Thr274Met					EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.T266M|EBF1_ENST00000380654.4_Missense_Mutation_p.T243M	p.T274M	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1103	-	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)	274			IPT/TIG.		Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.821C>T	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751221	0.89753	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.77489	0.94;-1.1;-1.1	5.68	5.68	0.88126	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86590	0.5969	L	0.55103	1.725	0.80722	D	1	D;D;D;D	0.89917	0.961;1.0;1.0;0.999	P;D;D;P	0.85130	0.453;0.992;0.997;0.906	D	0.85827	0.1389	10	0.54805	T	0.06	-5.6021	20.1615	0.98135	0.0:0.0:1.0:0.0	.	274;261;274;243	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	M	274;274;243;266	ENSP00000322898:T274M;ENSP00000370029:T243M;ENSP00000428020:T266M	ENSP00000322898:T274M	T	-	2	0	EBF1	158156019	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.835000	0.97688	0.650000	0.86243	ACG		0.468	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		22	51	0	0	0	1	0	22	51					A	158223441	G	A	158223441	3	1	493	1	0	0	0	0	1	0	0	0	4880	1145	40	1	986	1	EBF1	5	158223441	Missense_Mutation	SNP	G	TCGA-ZG-A9LZ-01A-11D-A41K-08	79871803	158223441	22691819	13	32736											
F13A1	2162	broad.mit.edu	37	chr6	6197460	6197460	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggacacagttttaccatcGctattttcctggggggtgct	7	13	12	9	1	0	0	0	0	0	0	2	2	1	1	2	4	2	3	2	4	2	5	rs537966361		TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr6:6197460G>A	ENST00000264870.3	-	9	1477	c.1212C>T	c.(1210-1212)agC>agT	p.S404S		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	404					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTTTACCATCGCTATTTTCCT	0.502													G|||	1	0.000199681	0	0	5008	,	,		19920	0.001		0	False		,,,				2504	0					ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(1210-1212)agC>agT		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						82	77	78					6																	6197460		2203	4300	6503	SO:0001819	synonymous_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6197460G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1212C>T	6.37:g.6197460G>A							p.S404S	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			9	1477	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	404					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	ENST00000264870.3	37	c.1212C>T	CCDS4496.1																																																																																				0.502	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		4	40	0	0	0	1	0	4	40					A	6197460	G	A	6197460	2	1	493	1	0	0	0	0	0	0	0	1	5340	1078	38	1		1	F13A1	6	6197460	Silent	SNP	G	TCGA-ZG-A9LZ-01A-11D-A41K-08		6197460	164917607	14	32737											
FHL5	9457	broad.mit.edu	37	chr6	97058500	97058500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagctatggcataaagagtGttttctgtgtagtggctgta	9	14	12	6	0	1	1	0	0	1	1	1	1	1	1	1	2	1	6	1	2	5	6			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr6:97058500G>T	ENST00000326771.2	+	6	937	c.557G>T	c.(556-558)tGt>tTt	p.C186F	FHL5_ENST00000541107.1_Missense_Mutation_p.C186F	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	186	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		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)		CATAAAGAGTGTTTTCTGTGT	0.443																																						ENST00000326771.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27						c.(556-558)tGt>tTt		four and a half LIM domains 5							287	264	272					6																	97058500		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97058500G>T	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.557G>T	6.37:g.97058500G>T	ENSP00000326022:p.Cys186Phe					FHL5_ENST00000541107.1_Missense_Mutation_p.C186F	p.C186F	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	6	937	+		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)	186			LIM zinc-binding 3.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.557G>T	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628505	0.87560	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.95412	-3.7;-3.7;-3.7	5.64	5.64	0.86602	Zinc finger, LIM-type (5);	0.000000	0.45606	D	0.000347	D	0.99217	0.9728	H	0.99946	5.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98595	1.0656	10	0.87932	D	0	.	19.7081	0.96082	0.0:0.0:1.0:0.0	.	186	Q5TD97	FHL5_HUMAN	F	186	ENSP00000442357:C186F;ENSP00000326022:C186F;ENSP00000396390:C186F	ENSP00000326022:C186F	C	+	2	0	FHL5	97165221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.430000	0.97488	2.675000	0.91044	0.650000	0.86243	TGT		0.443	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		53	82	1	0	3.40343e-31	1	4.06931e-31	53	82					T	97058500	G	T	97058500	3	4	493	1	0	0	0	0	1	0	0	0	5881	1377	48	5	571	5	FHL5	6	97058500	Missense_Mutation	SNP	G	TCGA-ZG-A9LZ-01A-11D-A41K-08	90861040	97058500	74056567	15	32738											
HEY2	23493	broad.mit.edu	37	chr6	126080681	126080681	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgggcagcgtcgccccctgCgtgccacctctctccacctc	4	7	9	21	4	1	0	0	0	1	0	5	0	2	0	6	1	3	1	6	1	0	0			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr6:126080681C>T	ENST00000368364.3	+	5	944	c.747C>T	c.(745-747)tgC>tgT	p.C249C	HEY2_ENST00000368365.1_Silent_p.C203C	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	249					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			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)		TCGCCCCCTGCGTGCCACCTC	0.672																																						ENST00000368364.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(745-747)tgC>tgT		hes-related family bHLH transcription factor with YRPW motif 2							170	151	157					6																	126080681		2203	4300	6503	SO:0001819	synonymous_variant	23493				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	g.chr6:126080681C>T	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"Basic helix-loop-helix proteins"	4881	protein-coding gene	gene with protein product		604674	"hairy/enhancer-of-split related with YRPW motif 2"			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.747C>T	6.37:g.126080681C>T						HEY2_ENST00000368365.1_Silent_p.C203C	p.C249C	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	944	+			249						Silent	SNP	ENST00000368364.3	37	c.747C>T	CCDS5131.1																																																																																				0.672	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			37	157	0	0	0	1	0	37	157					T	126080681	C	T	126080681	2	4	493	1	0	0	0	0	0	0	0	1	7079	776	27	1		1	HEY2	6	126080681	Silent	SNP	C	TCGA-ZG-A9LZ-01A-11D-A41K-08	29022181	126080681	45034386	16	32739											
CCDC28A	25901	broad.mit.edu	37	chr6	139095001	139095001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggctgtcgggtctttgCgggttgcggaagggggcccc	3	9	19	10	3	1	1	0	1	1	0	2	2	1	2	2	6	2	2	2	6	1	2	rs200225836	byFrequency	TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr6:139095001C>T	ENST00000332797.6	+	1	345	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	64										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CGGGTCTTTGCGGGTTGCGGA	0.617													C|||	2	0.000399361	0	0	5008	,	,		13588	0.001		0	False		,,,				2504	0.001					ENST00000332797.6																			0				autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13						c.(190-192)Cgg>Tgg		coiled-coil domain containing 28A							68	85	79					6																	139095001		2203	4300	6503	SO:0001583	missense	25901							g.chr6:139095001C>T	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"chromosome 6 open reading frame 80"	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.190C>T	6.37:g.139095001C>T	ENSP00000332716:p.Arg64Trp						p.R64W	NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	1	345	+			64					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	c.190C>T	CCDS5192.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.28	2.487247	0.44249	.	.	ENSG00000024862	ENST00000332797	T	0.25579	1.79	4.93	3.15	0.36227	.	1.391920	0.05417	N	0.543593	T	0.04272	0.0118	N	0.08118	0	0.09310	N	1	D	0.53885	0.963	B	0.33799	0.17	T	0.08310	-1.0728	10	0.72032	D	0.01	-2.5804	7.0938	0.25299	0.0:0.8032:0.0:0.1968	.	64	Q8IWP9	CC28A_HUMAN	W	64	ENSP00000332716:R64W	ENSP00000332716:R64W	R	+	1	2	CCDC28A	139136694	0.000000	0.05858	0.006000	0.13384	0.596000	0.36781	0.095000	0.15127	1.450000	0.47717	-0.215000	0.12644	CGG		0.617	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		4	126	0	0	0	1	0	4	126					T	139095001	C	T	139095001	3	4	493	1	0	0	0	0	1	0	0	0	2802	759	27	1	192	1	CCDC28A	6	139095001	Missense_Mutation	SNP	C	TCGA-ZG-A9LZ-01A-11D-A41K-08	13014320	139095001	32020066	17	32740											
SYNE1	23345	broad.mit.edu	37	chr6	152652494	152652494	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttaagtactttcttcgctgGcccactaagtcactgagaca	10	13	7	11	1	2	1	1	1	1	1	3	2	2	1	1	1	1	2	1	1	3	6			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr6:152652494G>A	ENST00000367255.5	-	78	13927	c.13326C>T	c.(13324-13326)ggC>ggT	p.G4442G	SYNE1_ENST00000265368.4_Silent_p.G4442G|SYNE1_ENST00000423061.1_Silent_p.G4371G|SYNE1_ENST00000341594.5_Silent_p.G4307G|SYNE1_ENST00000448038.1_Silent_p.G4371G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4442					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			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)		TTCTTCGCTGGCCCACTAAGT	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(13324-13326)ggC>ggT		spectrin repeat containing, nuclear envelope 1							100	91	94					6																	152652494		2203	4300	6503	SO:0001819	synonymous_variant	23345				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	g.chr6:152652494G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13326C>T	6.37:g.152652494G>A		HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Silent_p.G4307G|SYNE1_ENST00000265368.4_Silent_p.G4442G|SYNE1_ENST00000448038.1_Silent_p.G4371G|SYNE1_ENST00000423061.1_Silent_p.G4371G	p.G4442G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	13927	-		Ovarian(120;0.0955)	4442					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.13326C>T	CCDS5236.2																																																																																				0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		23	43	0	0	0	1	0	23	43					A	152652494	G	A	152652494	2	1	493	1	0	0	0	0	0	0	0	1	15442	1190	42	3		3	SYNE1	6	152652494	Silent	SNP	G	TCGA-ZG-A9LZ-01A-11D-A41K-08	13557493	152652494	18462573	18	32741											
FNDC1	84624	broad.mit.edu	37	chr6	159653362	159653362	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggcttttccctggccacGcagccccgcccaggggcgcc	3	6	12	20	3	0	0	0	0	0	0	1	0	1	0	7	4	1	2	7	4	0	2			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr6:159653362G>A	ENST00000297267.9	+	11	2018	c.1818G>A	c.(1816-1818)acG>acA	p.T606T	FNDC1_ENST00000340366.6_Silent_p.T543T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	606					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCTGGCCACGCAGCCCCGCC	0.701																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1816-1818)acG>acA		fibronectin type III domain containing 1							19	24	22					6																	159653362		1990	4156	6146	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159653362G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1818G>A	6.37:g.159653362G>A						FNDC1_ENST00000340366.6_Silent_p.T543T	p.T606T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2018	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	606					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.1818G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	4.555	0.103003	0.08731	.	.	ENSG00000164694	ENST00000329629	.	.	.	4.64	-7.27	0.01461	.	.	.	.	.	T	0.11067	0.0270	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.25572	-1.0128	4	.	.	.	-0.4912	8.6267	0.33895	0.0:0.1554:0.4064:0.4381	.	.	.	.	T	502	.	.	A	+	1	0	FNDC1	159573352	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.018000	0.03626	-1.564000	0.01678	-1.351000	0.01236	GCA		0.701	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		15	16	0	0	0	1	0	15	16					A	159653362	G	A	159653362	2	1	493	1	0	0	0	0	0	0	0	1	5968	1074	38	1		1	FNDC1	6	159653362	Silent	SNP	G	TCGA-ZG-A9LZ-01A-11D-A41K-08	7000868	159653362	11461705	19	32742											
ABCA13	154664	broad.mit.edu	37	chr7	48321025	48321025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaagtgaagatgatggtcGtacgtgtgctcaccatcgtt	11	11	12	7	3	1	4	1	2	0	2	3	4	1	4	1	1	2	3	1	1	3	2			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr7:48321025G>A	ENST00000435803.1	+	19	8836	c.8812G>A	c.(8812-8814)Gta>Ata	p.V2938I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2938					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						GATGATGGTCGTACGTGTGCT	0.463																																						ENST00000435803.1																			0				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						c.(8812-8814)Gta>Ata		ATP-binding cassette, sub-family A (ABC1), member 13							114	114	114					7																	48321025		2025	4203	6228	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48321025G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.8812G>A	7.37:g.48321025G>A	ENSP00000411096:p.Val2938Ile						p.V2938I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			19	8836	+			2938					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.8812G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517868	0.27211	.	.	ENSG00000179869	ENST00000435803	D	0.85258	-1.96	4.81	-9.62	0.00547	.	1.117230	0.06969	N	0.817816	T	0.60881	0.2303	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.51741	-0.8667	10	0.59425	D	0.04	.	0.6727	0.00861	0.1994:0.1738:0.1994:0.4274	.	640;2938	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	I	2938	ENSP00000411096:V2938I	ENSP00000411096:V2938I	V	+	1	0	ABCA13	48291571	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.584000	0.05800	-2.015000	0.00947	-2.225000	0.00294	GTA		0.463	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	10	0	0	0	1	0	4	10					A	48321025	G	A	48321025	3	1	493	1	0	0	0	0	1	0	0	0	31	1145	40	1	8715	1	ABCA13	7	48321025	Missense_Mutation	SNP	G	TCGA-ZG-A9LZ-01A-11D-A41K-08		48321025	110817638	20	32743											
CSMD1	64478	broad.mit.edu	37	chr8	3205573	3205573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaaggtggatgcccttgcCggcttctgtttctattttat	5	18	9	9	1	3	0	0	0	3	0	3	1	3	1	2	3	2	2	2	3	3	7	rs372041329		TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr8:3205573C>T	ENST00000520002.1	-	23	3973	c.3418G>A	c.(3418-3420)Ggc>Agc	p.G1140S	CSMD1_ENST00000539096.1_Missense_Mutation_p.G1139S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1139S|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1140S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1140S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1139S|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1140S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1140	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				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)		ATGCCCTTGCCGGCTTCTGTT	0.378																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(3418-3420)Ggc>Agc		CUB and Sushi multiple domains 1		C	SER/GLY	0,3634		0,0,1817	66	60	62		3415	5.6	1	8		62	1,8137		0,1,4068	no	missense	CSMD1	NM_033225.5	56	0,1,5885	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging	1139/3565	3205573	1,11771	1817	4069	5886	SO:0001583	missense	64478					integral to membrane		g.chr8:3205573C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3418G>A	8.37:g.3205573C>T	ENSP00000430733:p.Gly1140Ser					CSMD1_ENST00000542608.1_Missense_Mutation_p.G1139S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1140S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1139S|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1139S|CSMD1_ENST00000520002.1_Missense_Mutation_p.G1140S|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1140S	p.G1140S			Q96PZ7	CSMD1_HUMAN		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)	23	3973	-		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)	1140			CUB 7.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.3418G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.130897|4.130897	0.77549|0.77549	0.0|0.0	1.23E-4|1.23E-4	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95;0.95|.	5.64|5.64	5.64|5.64	0.86602|0.86602	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78413|0.78413	0.4279|0.4279	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	T|T	0.77744|0.77744	-0.2473|-0.2473	10|5	0.72032|.	D|.	0.01|.	.|.	19.7076|19.7076	0.96081|0.96081	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1140;1140;1140|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	S|Q	1140;1140;1002;1139;1139;1139|619	ENSP00000383047:G1140S;ENSP00000430733:G1140S;ENSP00000441462:G1139S;ENSP00000446243:G1139S;ENSP00000441675:G1139S|.	ENSP00000320445:G1002S|.	G|R	-|-	1|2	0|0	CSMD1|CSMD1	3192980|3192980	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.077000|0.077000	0.17291|0.17291	7.635000|7.635000	0.83286|0.83286	2.642000|2.642000	0.89623|0.89623	0.650000|0.650000	0.86243|0.86243	GGC|CGG		0.378	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		11	12	0	0	0	1	0	11	12					T	3205573	C	T	3205573	3	4	493	1	0	0	0	0	1	0	0	0	3944	652	23	2	7475	2	CSMD1	8	3205573	Missense_Mutation	SNP	C	TCGA-ZG-A9LZ-01A-11D-A41K-08		3205573	143158449	21	32744											
ZNF395	55893	broad.mit.edu	37	chr8	28218558	28218558	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgagggtggggcagccgaGggcccctccgaggcactggg	5	4	19	13	3	0	0	0	0	0	0	2	3	2	0	5	6	1	2	5	6	0	0	rs370573792|rs576883875	byFrequency	TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr8:28218558G>A	ENST00000344423.5	-	2	215	c.84C>T	c.(82-84)ccC>ccT	p.P28P	ZNF395_ENST00000523095.1_Silent_p.P28P|ZNF395_ENST00000523202.1_Silent_p.P28P	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	28					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		GGGCAGCCGAGGGCCCCTCCG	0.682																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(82-84)ccC>ccT		zinc finger protein 395		G		1,4381		0,1,2190	19	22	21		84	-6	0	8		21	0,8556		0,0,4278	no	coding-synonymous	ZNF395	NM_018660.2		0,1,6468	AA,AG,GG		0.0,0.0228,0.0077		28/514	28218558	1,12937	2191	4278	6469	SO:0001819	synonymous_variant	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28218558G>A	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.84C>T	8.37:g.28218558G>A						ZNF395_ENST00000523202.1_Silent_p.P28P|ZNF395_ENST00000523095.1_Silent_p.P28P	p.P28P	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	2	215	-		Ovarian(32;2.06e-05)	28					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Silent	SNP	ENST00000344423.5	37	c.84C>T	CCDS6067.1																																																																																				0.682	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			3	35	0	0	0	1	0	3	35					A	28218558	G	A	28218558	2	1	493	1	0	0	0	0	0	0	0	1	17878	987	35	3		3	ZNF395	8	28218558	Silent	SNP	G	TCGA-ZG-A9LZ-01A-11D-A41K-08	25012985	28218558	118145464	22	32745											
PPP2CB	5516	broad.mit.edu	37	chr8	30655146	30655146	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataatcaaagagatctgtaAaatatttccaaacgttggca	17	11	7	6	1	2	1	1	0	1	1	3	3	3	1	1	1	1	3	1	1	6	5			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr8:30655146A>C	ENST00000221138.4	-	3	887	c.437T>G	c.(436-438)tTt>tGt	p.F146C	PPP2CB_ENST00000518564.1_Intron|PPP2CB_ENST00000520500.1_5'Flank	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	146					apoptotic mitochondrial changes (GO:0008637)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of Ras protein signal transduction (GO:0046580)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|regulation of gene expression (GO:0010468)|response to antibiotic (GO:0046677)|response to endoplasmic reticulum stress (GO:0034976)|response to hydrogen peroxide (GO:0042542)	chromosome, centromeric region (GO:0000775)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	GAGATCTGTAAAATATTTCCA	0.378																																						ENST00000221138.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9						c.(436-438)tTt>tGt		protein phosphatase 2, catalytic subunit, beta isozyme	Vitamin E(DB00163)						105	101	103					8																	30655146		2203	4300	6503	SO:0001583	missense	5516				protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding	g.chr8:30655146A>C		CCDS6079.1	8p12	2011-05-24	2010-03-05		ENSG00000104695	ENSG00000104695	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9300	protein-coding gene	gene with protein product	"protein phosphatase 2A catalytic subunit, beta isoform"	176916	"protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform"			8383590	Standard	NM_001009552		Approved	PP2Abeta	uc003xik.3	P62714	OTTHUMG00000163949	ENST00000221138.4:c.437T>G	8.37:g.30655146A>C	ENSP00000221138:p.Phe146Cys					PPP2CB_ENST00000518564.1_Intron	p.F146C	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	3	887	-			146					D3DSV4|P11082|Q6FHK5	Missense_Mutation	SNP	ENST00000221138.4	37	c.437T>G	CCDS6079.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419931	0.62622	.	.	ENSG00000104695	ENST00000221138;ENST00000406655;ENST00000518243;ENST00000520056	T;T;T	0.54479	0.57;0.57;0.57	4.87	4.87	0.63330	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.49150	0.1540	N	0.11927	0.2	0.80722	D	1	B	0.31193	0.312	P	0.49387	0.609	T	0.48948	-0.8989	10	0.20519	T	0.43	-3.183	14.4643	0.67472	1.0:0.0:0.0:0.0	.	146	P62714	PP2AB_HUMAN	C	146;146;99;81	ENSP00000221138:F146C;ENSP00000428618:F99C;ENSP00000428866:F81C	ENSP00000221138:F146C	F	-	2	0	PPP2CB	30774688	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.339000	0.96797	1.949000	0.56562	0.528000	0.53228	TTT		0.378	PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376527.2	NM_001009552		7	61	0	0	0	1	0	7	61					C	30655146	A	C	30655146	3	2	493	1	0	0	0	0	1	0	0	0	12381	14	1	5	512	5	PPP2CB	8	30655146	Missense_Mutation	SNP	A	TCGA-ZG-A9LZ-01A-11D-A41K-08	2436588	30655146	115708876	23	32746											
GLDC	2731	broad.mit.edu	37	chr9	6536172	6536172	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagctctgccttgtcctcCgactcagtgggctccaccat	5	11	8	17	1	2	0	1	0	1	0	6	1	6	0	6	1	2	2	6	1	0	1	rs144937031	byFrequency	TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr9:6536172C>T	ENST00000321612.6	-	23	2880	c.2730G>A	c.(2728-2730)tcG>tcA	p.S910S		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	910					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	CCTTGTCCTCCGACTCAGTGG	0.572													C|||	3	0.000599042	8e-04	0	5008	,	,		18253	0		0.002	False		,,,				2504	0					ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2728-2730)tcG>tcA		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	C		2,4404	4.2+/-10.8	0,2,2201	49	40	43		2730	-10.7	0.8	9	dbSNP_134	43	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	GLDC	NM_000170.2		0,11,6492	TT,TC,CC		0.1047,0.0454,0.0846		910/1021	6536172	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6536172C>T	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2730G>A	9.37:g.6536172C>T							p.S910S	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	23	2880	-		Acute lymphoblastic leukemia(23;0.161)	910					Q2M2F8	Silent	SNP	ENST00000321612.6	37	c.2730G>A	CCDS34987.1																																																																																				0.572	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		4	22	0	0	0	1	0	4	22					T	6536172	C	T	6536172	2	4	493	1	0	0	0	0	0	0	0	1	6433	639	23	2		2	GLDC	9	6536172	Silent	SNP	C	TCGA-ZG-A9LZ-01A-11D-A41K-08		6536172	134677259	24	32747											
FREM1	158326	broad.mit.edu	37	chr9	14801770	14801770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgatgaggaggccatggcGtggcttttgagtgatgctga	8	11	16	6	2	0	4	0	4	0	0	1	6	0	5	1	4	1	2	1	4	0	2	rs371449178		TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr9:14801770G>A	ENST00000380880.3	-	20	4357	c.3574C>T	c.(3574-3576)Cgc>Tgc	p.R1192C	FREM1_ENST00000380881.4_Missense_Mutation_p.R1193C|FREM1_ENST00000422223.2_Missense_Mutation_p.R1192C			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1192					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGCCATGGCGTGGCTTTTGA	0.527																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3577-3579)Cgc>Tgc		FRAS1 related extracellular matrix 1		G	CYS/ARG	2,4082		0,2,2040	148	146	146		3574	4.6	0.2	9		146	0,8426		0,0,4213	no	missense	FREM1	NM_144966.5	180	0,2,6253	AA,AG,GG		0.0,0.049,0.016	possibly-damaging	1192/2180	14801770	2,12508	2042	4213	6255	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14801770G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3574C>T	9.37:g.14801770G>A	ENSP00000370262:p.Arg1192Cys					FREM1_ENST00000380880.3_Missense_Mutation_p.R1192C|FREM1_ENST00000422223.2_Missense_Mutation_p.R1192C	p.R1193C			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	21	4392	-			1192					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.3577C>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861951	0.71949	4.9E-4	0.0	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.31769	1.48;1.48;1.48	5.51	4.6	0.57074	.	0.526027	0.22337	N	0.061381	T	0.44286	0.1286	M	0.80183	2.485	0.34696	D	0.726252	D	0.71674	0.998	P	0.51657	0.676	T	0.62148	-0.6915	10	0.59425	D	0.04	-3.6478	8.2194	0.31532	0.0854:0.0:0.7578:0.1568	.	1192	Q5H8C1	FREM1_HUMAN	C	1193;1192;1192	ENSP00000370263:R1193C;ENSP00000412940:R1192C;ENSP00000370262:R1192C	ENSP00000370257:R1195C	R	-	1	0	FREM1	14791770	0.133000	0.22466	0.195000	0.23364	0.195000	0.23768	2.872000	0.48467	1.290000	0.44636	0.591000	0.81541	CGC		0.527	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		30	41	0	0	0	1	0	30	41					A	14801770	G	A	14801770	3	1	493	1	0	0	0	0	1	0	0	0	6044	1145	40	1	3087	1	FREM1	9	14801770	Missense_Mutation	SNP	G	TCGA-ZG-A9LZ-01A-11D-A41K-08	8265598	14801770	126411661	25	32748											
POMT1	10585	broad.mit.edu	37	chr9	134379661	134379661	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgacatcaacttgagccTtgtggccctgactgggatgg	7	10	14	10	0	1	3	1	3	0	0	1	4	1	4	2	4	2	1	2	4	1	2			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr9:134379661T>A	ENST00000372228.3	+	2	235	c.56T>A	c.(55-57)cTt>cAt	p.L19H	POMT1_ENST00000541219.1_Intron|POMT1_ENST00000354713.4_Missense_Mutation_p.L19H|POMT1_ENST00000341012.7_Intron|POMT1_ENST00000423007.1_Missense_Mutation_p.L19H|POMT1_ENST00000404875.2_Intron|POMT1_ENST00000419118.2_Intron|POMT1_ENST00000402686.3_Missense_Mutation_p.L19H	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	19					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			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)		AACTTGAGCCTTGTGGCCCTG	0.557											OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000423007.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31						c.(55-57)cTt>cAt		protein-O-mannosyltransferase 1							169	140	150					9																	134379661		2203	4300	6503	SO:0001583	missense	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134379661T>A	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	9202	protein-coding gene	gene with protein product	"dolichyl-phosphate-mannose-protein mannosyltransferase"	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.56T>A	9.37:g.134379661T>A	ENSP00000361302:p.Leu19His		OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	POMT1_ENST00000341012.7_Intron|POMT1_ENST00000354713.4_Missense_Mutation_p.L19H|POMT1_ENST00000402686.3_Missense_Mutation_p.L19H|POMT1_ENST00000372228.3_Missense_Mutation_p.L19H|POMT1_ENST00000404875.2_Intron|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000419118.2_Intron	p.L19H	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	2	498	+		Myeloproliferative disorder(178;0.204)	19					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	c.56T>A	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.720209	0.30503	.	.	ENSG00000130714	ENST00000423007;ENST00000372228;ENST00000402686;ENST00000354713;ENST00000418774	D;D;D;D;T	0.86562	-1.87;-1.85;-1.87;-2.14;-1.34	5.02	3.84	0.44239	.	0.804834	0.11102	N	0.599565	D	0.92322	0.7564	M	0.89785	3.06	0.42210	D	0.991806	P;D;D;P	0.67145	0.895;0.996;0.992;0.759	P;P;P;P	0.55871	0.497;0.786;0.691;0.669	D	0.88075	0.2803	10	0.23302	T	0.38	-16.732	10.9689	0.47428	0.0:0.0:0.1571:0.8429	.	19;19;19;19	B4DTW4;B4DWD8;Q9Y6A1;Q9Y6A1-2	.;.;POMT1_HUMAN;.	H	19	ENSP00000404119:L19H;ENSP00000361302:L19H;ENSP00000385797:L19H;ENSP00000346748:L19H;ENSP00000390737:L19H	ENSP00000346748:L19H	L	+	2	0	POMT1	133369482	0.666000	0.27475	0.001000	0.08648	0.004000	0.04260	5.047000	0.64232	0.714000	0.32081	0.533000	0.62120	CTT		0.557	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		4	117	0	0	0	1	0	4	117					A	134379661	T	A	134379661	3	1	493	1	0	0	0	0	1	0	0	0	12245	1609	56	5	58	5	POMT1	9	134379661	Missense_Mutation	SNP	T	TCGA-ZG-A9LZ-01A-11D-A41K-08	119577891	134379661	6833770	26	32749											
C10orf72	196740	broad.mit.edu	37	chr10	50227748	50227748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagacagtgctggtgggggCgcctttggcagcccggtggg	4	8	20	9	2	0	1	0	0	0	1	0	1	0	1	2	6	2	3	2	6	1	2	rs141399513	byFrequency	TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr10:50227748C>T	ENST00000332853.4	-	8	933	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	RP11-523O18.1_ENST00000422966.1_RNA	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CTGGTGGGGGCGCCTTTGGCA	0.493													C|||	2	0.000399361	8e-04	0	5008	,	,		16391	0.001		0	False		,,,				2504	0					ENST00000332853.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.(910-912)Gcc>Acc		V-set and transmembrane domain containing 4		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	70	71	70		910	-8.5	0	10	dbSNP_134	70	4,8596	3.7+/-12.6	0,4,4296	yes	missense	VSTM4	NM_001031746.3	58	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign	304/321	50227748	5,13001	2203	4300	6503	SO:0001583	missense	196740					integral to membrane|plasma membrane		g.chr10:50227748C>T	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"Immunoglobulin superfamily / V-set domain containing"	26470	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 72"	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.910G>A	10.37:g.50227748C>T	ENSP00000331062:p.Ala304Thr						p.A304T	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN			8	933	-			304					B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	c.910G>A	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	C	6.318	0.426831	0.11987	2.27E-4	4.65E-4	ENSG00000165633	ENST00000332853	T	0.06528	3.29	5.78	-8.5	0.00927	.	1.574440	0.03188	N	0.172958	T	0.03477	0.0100	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39643	-0.9604	10	0.22706	T	0.39	-0.8756	8.6658	0.34121	0.0:0.265:0.2592:0.4758	.	304	Q8IW00	VSTM4_HUMAN	T	304	ENSP00000331062:A304T	ENSP00000331062:A304T	A	-	1	0	VSTM4	49897754	0.000000	0.05858	0.000000	0.03702	0.332000	0.28634	-2.696000	0.00827	-1.173000	0.02758	-1.054000	0.02325	GCC		0.493	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		22	23	0	0	0	1	0	22	23					T	50227748	C	T	50227748	3	4	493	1	0	0	0	0	1	0	0	0	1615	768	27	1	56	1	C10orf72	10	50227748	Missense_Mutation	SNP	C	TCGA-ZG-A9LZ-01A-11D-A41K-08		50227748	85306999	27	32750											
LARP4	113251	broad.mit.edu	37	chr12	50869343	50869343	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttatgctgaagtgtgccAgaagccccctaaagagccat	13	8	10	10	0	0	3	0	1	0	2	0	3	0	3	4	0	4	2	4	0	6	2			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr12:50869343A>C	ENST00000398473.2	+	16	1983	c.1871A>C	c.(1870-1872)cAg>cCg	p.Q624P	LARP4_ENST00000347328.5_Missense_Mutation_p.Q553P|LARP4_ENST00000518444.1_Missense_Mutation_p.Q623P|LARP4_ENST00000429001.3_Missense_Mutation_p.Q630P|LARP4_ENST00000293618.8_Missense_Mutation_p.Q553P	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	624					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GAAGTGTGCCAGAAGCCCCCT	0.398																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(1870-1872)cAg>cCg		La ribonucleoprotein domain family, member 4							191	191	191					12																	50869343		1823	4090	5913	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50869343A>C	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1871A>C	12.37:g.50869343A>C	ENSP00000381490:p.Gln624Pro					LARP4_ENST00000429001.3_Missense_Mutation_p.Q630P|LARP4_ENST00000518444.1_Missense_Mutation_p.Q623P|LARP4_ENST00000347328.5_Missense_Mutation_p.Q553P|LARP4_ENST00000293618.8_Missense_Mutation_p.Q553P	p.Q624P	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			16	1983	+			624					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.1871A>C	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.608476	0.87258	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	M	0.75777	2.31	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.988;1.0;0.994;0.994;0.999;0.999	T	0.69774	-0.5054	10	0.87932	D	0	.	15.7951	0.78404	1.0:0.0:0.0:0.0	.	505;34;623;553;553;624;630	Q71RC2-2;Q8WVX5;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;.;LARP4_HUMAN;.	P	553;630;624;623;505;553	ENSP00000293618:Q553P;ENSP00000415464:Q630P;ENSP00000381490:Q624P;ENSP00000429077:Q623P;ENSP00000340901:Q553P	ENSP00000293618:Q553P	Q	+	2	0	LARP4	49155610	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.598000	0.90852	2.202000	0.70862	0.523000	0.50628	CAG		0.398	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		13	259	0	0	0	1	0	13	259					C	50869343	A	C	50869343	3	2	493	1	0	0	0	0	1	0	0	0	8630	188	7	5	1937	5	LARP4	12	50869343	Missense_Mutation	SNP	A	TCGA-ZG-A9LZ-01A-11D-A41K-08		50869343	82982552	28	32751											
ARHGAP5	394	broad.mit.edu	37	chr14	32560136	32560136	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatagtgaagatggagtagaAtgcaaaattcatgtcattga	17	11	10	3	0	2	4	2	2	0	2	2	5	2	5	0	1	1	2	0	1	7	4			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr14:32560136A>G	ENST00000345122.3	+	2	576	c.261A>G	c.(259-261)gaA>gaG	p.E87E	ARHGAP5_ENST00000432921.1_Silent_p.E87E|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Silent_p.E87E|ARHGAP5_ENST00000539826.2_Silent_p.E87E	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	87					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			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)		ATGGAGTAGAATGCAAAATTC	0.388																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				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						c.(259-261)gaA>gaG		Rho GTPase activating protein 5							96	96	96					14																	32560136		2203	4299	6502	SO:0001819	synonymous_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560136A>G	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.261A>G	14.37:g.32560136A>G						ARHGAP5_ENST00000539826.2_Silent_p.E87E|ARHGAP5_ENST00000556611.1_Silent_p.E87E|ARHGAP5_ENST00000432921.1_Silent_p.E87E|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron	p.E87E	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	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)	2	576	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		87					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	c.261A>G	CCDS32062.1																																																																																				0.388	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		4	66	0	0	0	1	0	4	66					G	32560136	A	G	32560136	2	3	493	1	0	0	0	0	0	0	0	1	886	98	4	4		4	ARHGAP5	14	32560136	Silent	SNP	A	TCGA-ZG-A9LZ-01A-11D-A41K-08		32560136	74789404	29	32752											
NRXN3	9369	broad.mit.edu	37	chr14	79434626	79434626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagtggacttgaatggaCgcctgccagacctcatcaat	11	9	9	12	1	3	2	3	1	0	1	3	4	3	4	3	2	1	0	3	2	2	1	rs140301017		TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr14:79434626C>T	ENST00000554719.1	+	11	2451	c.1960C>T	c.(1960-1962)Cgc>Tgc	p.R654C	NRXN3_ENST00000335750.5_Missense_Mutation_p.R654C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	260					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTGAATGGACGCCTGCCAGA	0.522																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(1960-1962)Cgc>Tgc		neurexin 3		C	CYS/ARG	0,4406		0,0,2203	136	116	122		1960	6	1	14	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRXN3	NM_004796.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	654/1062	79434626	1,13005	2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79434626C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1960C>T	14.37:g.79434626C>T	ENSP00000451648:p.Arg654Cys					NRXN3_ENST00000335750.5_Missense_Mutation_p.R654C	p.R654C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	11	2451	+		Renal(4;0.00876)	260					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1960C>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587372	0.96590	0.0	1.16E-4	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.76968	-1.06;-1.06	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88987	0.6587	.	.	.	0.80722	D	1	D;P	0.89917	1.0;0.813	D;B	0.91635	0.999;0.076	D	0.87571	0.2478	8	.	.	.	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1027;654	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	C	1027;1016;654;654	ENSP00000451648:R654C;ENSP00000338349:R654C	.	R	+	1	0	NRXN3	78504379	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.818000	0.86416	2.854000	0.98071	0.655000	0.94253	CGC		0.522	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		18	34	0	0	0	1	0	18	34					T	79434626	C	T	79434626	3	4	493	1	0	0	0	0	1	0	0	0	10667	536	19	1	1994	1	NRXN3	14	79434626	Missense_Mutation	SNP	C	TCGA-ZG-A9LZ-01A-11D-A41K-08	46874490	79434626	27914914	30	32753											
PPP4R4	57718	broad.mit.edu	37	chr14	94732161	94732161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagaaatccaaactgattcGaagccagtcttttaataatc	16	11	5	9	1	1	2	0	1	1	1	4	3	2	2	2	0	2	0	2	0	6	4			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr14:94732161G>A	ENST00000304338.3	+	22	2469	c.2315G>A	c.(2314-2316)cGa>cAa	p.R772Q		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	772					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AAACTGATTCGAAGCCAGTCT	0.363																																						ENST00000304338.3																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.(2314-2316)cGa>cAa		protein phosphatase 4, regulatory subunit 4							89	92	91					14																	94732161		2202	4299	6501	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94732161G>A	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2315G>A	14.37:g.94732161G>A	ENSP00000305924:p.Arg772Gln						p.R772Q	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN			22	2469	+			772					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.2315G>A	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945773	0.92593	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.39	5.39	0.77823	.	0.317552	0.28241	N	0.016061	T	0.77532	0.4144	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.75374	-0.3340	9	0.38643	T	0.18	-3.0727	19.212	0.93760	0.0:0.0:1.0:0.0	.	772	Q6NUP7	PP4R4_HUMAN	Q	772	.	ENSP00000305924:R772Q	R	+	2	0	PPP4R4	93801914	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.937000	0.75898	2.547000	0.85894	0.644000	0.83932	CGA		0.363	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		39	65	0	0	0	1	0	39	65					A	94732161	G	A	94732161	3	1	493	1	0	0	0	0	1	0	0	0	12405	1058	37	2	2474	2	PPP4R4	14	94732161	Missense_Mutation	SNP	G	TCGA-ZG-A9LZ-01A-11D-A41K-08	15297535	94732161	12617379	31	32754											
TRPM1	4308	broad.mit.edu	37	chr15	31355425	31355425	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttcttgcaggtattcCaagacgatggacaccacgtt	9	11	10	11	2	2	1	0	0	2	1	3	3	3	2	2	3	1	4	2	3	2	5			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr15:31355425C>A	ENST00000256552.6	-	8	1008	c.861G>T	c.(859-861)ttG>ttT	p.L287F	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.L265F|TRPM1_ENST00000542188.1_Missense_Mutation_p.L304F	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											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)		GCAGGTATTCCAAGACGATGG	0.587																																						ENST00000542188.1																			0				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						c.(910-912)ttG>ttT		transient receptor potential cation channel, subfamily M, member 1							82	92	89					15																	31355425		2053	4201	6254	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31355425C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.861G>T	15.37:g.31355425C>A	ENSP00000256552:p.Leu287Phe					TRPM1_ENST00000397795.2_Missense_Mutation_p.L265F|TRPM1_ENST00000256552.6_Missense_Mutation_p.L287F	p.L304F	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		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)	7	1225	-		all_lung(180;1.92e-11)	265						Missense_Mutation	SNP	ENST00000256552.6	37	c.912G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995326	0.93167	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.33654	1.4;1.4;1.4	5.67	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.59918	0.2229	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.59177	-0.7503	10	0.41790	T	0.15	-21.1952	16.117	0.81314	0.0:0.8664:0.1336:0.0	.	265;265	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	F	265;304;287;265	ENSP00000380897:L265F;ENSP00000437849:L304F;ENSP00000256552:L287F	ENSP00000256552:L287F	L	-	3	2	TRPM1	29142717	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.688000	0.37690	2.673000	0.90976	0.655000	0.94253	TTG		0.587	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		3	31	1	0	0.00909568	1	0.00926412	3	31					A	31355425	C	A	31355425	3	1	493	1	0	0	0	0	1	0	0	0	16582	593	21	5	4100	5	TRPM1	15	31355425	Missense_Mutation	SNP	C	TCGA-ZG-A9LZ-01A-11D-A41K-08		31355425	71175967	32	32755											
C15orf40	123207	broad.mit.edu	37	chr15	83677356	83677356	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttggaaagataccgacAgagctcagcattagcctctc	12	8	9	12	1	2	2	1	0	1	2	3	5	2	3	3	1	4	2	3	1	3	3			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr15:83677356A>G	ENST00000513601.2	-	3	317	c.310T>C	c.(310-312)Tgt>Cgt	p.C104R	C15orf40_ENST00000538348.2_Missense_Mutation_p.C104R|C15orf40_ENST00000565712.1_Intron|C15orf40_ENST00000304177.5_Missense_Mutation_p.C77R|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000451195.3_Missense_Mutation_p.C104R			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	104										large_intestine(3)|lung(2)|skin(1)	6						AGATACCGACAGAGCTCAGCA	0.428																																						ENST00000304177.5																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(229-231)Tgt>Cgt		chromosome 15 open reading frame 40							109	99	103					15																	83677356		2203	4300	6503	SO:0001583	missense	123207							g.chr15:83677356A>G	BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.310T>C	15.37:g.83677356A>G	ENSP00000424666:p.Cys104Arg					C15orf40_ENST00000451195.3_Missense_Mutation_p.C104R|C15orf40_ENST00000513601.2_Missense_Mutation_p.C104R|C15orf40_ENST00000538348.2_Missense_Mutation_p.C104R|C15orf40_ENST00000565712.1_Intron|RP11-382A20.5_ENST00000566841.1_RNA	p.C77R	NM_001160114.1|NM_144597.2	NP_001153586.1|NP_653198.2	Q8WUR7	CO040_HUMAN			3	343	-			77					A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Missense_Mutation	SNP	ENST00000513601.2	37	c.229T>C	CCDS32312.2	.	.	.	.	.	.	.	.	.	.	A	22.1	4.239103	0.79800	.	.	ENSG00000169609	ENST00000538348;ENST00000451195;ENST00000304177;ENST00000513601	.	.	.	5.54	5.54	0.83059	.	0.152428	0.64402	D	0.000010	T	0.69015	0.3064	L	0.46947	1.48	0.80722	D	1	P;D;D;D	0.61080	0.947;0.981;0.989;0.988	P;P;D;P	0.65140	0.849;0.831;0.932;0.851	T	0.70970	-0.4727	9	0.59425	D	0.04	-12.3929	15.971	0.80019	1.0:0.0:0.0:0.0	.	77;104;104;104	Q8WUR7;F8WD31;F5GX92;G5EA00	CO040_HUMAN;.;.;.	R	104;104;77;104	.	ENSP00000307071:C77R	C	-	1	0	C15orf40	81468360	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	2.655000	0.46707	2.223000	0.72356	0.533000	0.62120	TGT		0.428	C15orf40-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360737.2	NM_144597		6	56	0	0	0	1	0	6	56					G	83677356	A	G	83677356	3	3	493	1	0	0	0	0	1	0	0	0	1794	188	7	4	631	4	C15orf40	15	83677356	Missense_Mutation	SNP	A	TCGA-ZG-A9LZ-01A-11D-A41K-08	52321931	83677356	18854036	33	32756											
TUBB3	10381	broad.mit.edu	37	chr16	89999982	89999982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaggcctgacaatttcatCtttggtaagttccccctgct	7	15	7	12	0	3	1	2	1	1	0	4	1	4	1	3	2	1	3	3	2	2	5			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr16:89999982C>T	ENST00000315491.7	+	3	396	c.273C>T	c.(271-273)atC>atT	p.I91I	TUBB3_ENST00000553967.1_Silent_p.I91I|TUBB3_ENST00000555576.1_Silent_p.I91I|TUBB3_ENST00000554444.1_Silent_p.I19I|TUBB3_ENST00000304984.5_Silent_p.I19I|TUBB3_ENST00000554336.1_Silent_p.I91I|TUBB3_ENST00000556922.1_Silent_p.I438I	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	91					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		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)	Ixabepilone(DB04845)	ACAATTTCATCTTTGGTAAGT	0.572																																						ENST00000304984.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(55-57)atC>atT		tubulin, beta 3 class III							143	135	137					16																	89999982		2198	4300	6498	SO:0001819	synonymous_variant	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:89999982C>T	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"Tubulins"	20772	protein-coding gene	gene with protein product	"class III beta-tubulin"	602661	"tubulin, beta 3", "fibrosis of extraocular muscles, congenital, 3"	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.273C>T	16.37:g.89999982C>T						TUBB3_ENST00000556922.1_Silent_p.I438I|TUBB3_ENST00000554336.1_Silent_p.I91I|TUBB3_ENST00000315491.7_Silent_p.I91I|TUBB3_ENST00000555576.1_Silent_p.I91I|TUBB3_ENST00000553967.1_Silent_p.I91I|TUBB3_ENST00000554444.1_Silent_p.I19I	p.I19I			Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	2	2352	+		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)	91					A8K854|Q9BTZ0|Q9BW10	Silent	SNP	ENST00000315491.7	37	c.57C>T	CCDS10988.1																																																																																				0.572	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		33	17	0	0	0	1	0	33	17					T	89999982	C	T	89999982	2	4	493	1	0	0	0	0	0	0	0	1	16754	903	32	3		3	TUBB3	16	89999982	Silent	SNP	C	TCGA-ZG-A9LZ-01A-11D-A41K-08		89999982	354771	34	32757											
DLG4	1742	broad.mit.edu	37	chr17	7096281	7096281	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctgctctgccacctctcGcacggactggacgctggtcc	5	9	10	17	3	2	0	0	0	2	0	4	2	3	2	4	3	3	3	4	3	1	1			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr17:7096281G>A	ENST00000399506.2	-	17	2040	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	DLG4_ENST00000302955.6_Nonsense_Mutation_p.R614*|DLG4_ENST00000399510.2_Nonsense_Mutation_p.R660*			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	617	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GCCACCTCTCGCACGGACTGG	0.612																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(1978-1980)Cga>Tga		discs, large homolog 4 (Drosophila)							40	44	43					17																	7096281		2022	4173	6195	SO:0001587	stop_gained	1742				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	g.chr17:7096281G>A	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1849C>T	17.37:g.7096281G>A	ENSP00000382425:p.Arg617*					DLG4_ENST00000399506.2_Nonsense_Mutation_p.R617*|DLG4_ENST00000302955.6_Nonsense_Mutation_p.R614*	p.R660*	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			19	2830	-			617			Guanylate kinase-like.		B7Z1S1|G5E939|Q92941|Q9UKK8	Nonsense_Mutation	SNP	ENST00000399506.2	37	c.1978C>T		.	.	.	.	.	.	.	.	.	.	G	40	8.415455	0.98801	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	.	.	.	4.2	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8706	0.46881	0.0:0.0:0.8101:0.1899	.	.	.	.	X	617;614;660;660;557;660	.	ENSP00000293813:R660X	R	-	1	2	DLG4	7037005	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.397000	0.79903	0.951000	0.37770	0.643000	0.83706	CGA		0.612	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		10	10	0	0	0	1	0	10	10					A	7096281	G	A	7096281	4	1	493	1	0	0	0	0	0	1	0	0	4557	1095	38	1	341	1	DLG4	17	7096281	Nonsense_Mutation	SNP	G	TCGA-ZG-A9LZ-01A-11D-A41K-08		7096281	74098929	35	32758											
C17orf68	80169	broad.mit.edu	37	chr17	8132109	8132109	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggcacttggacgaaatctAggagggaggcccactctcta	10	8	12	11	1	2	0	0	0	2	0	3	4	2	3	1	5	0	1	1	5	3	3			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr17:8132109A>C	ENST00000315684.8	-	21	3330	c.3323T>G	c.(3322-3324)cTa>cGa	p.L1108R		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1108					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GACGAAATCTAGGAGGGAGGC	0.597																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(3322-3324)cTa>cGa		CTS telomere maintenance complex component 1							46	49	48					17																	8132109		2027	4185	6212	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8132109A>C	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3323T>G	17.37:g.8132109A>C	ENSP00000313759:p.Leu1108Arg						p.L1108R	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			21	3330	-			1108					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.3323T>G	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	A	12.09	1.833737	0.32421	.	.	ENSG00000178971	ENST00000315684	D	0.84589	-1.87	5.56	4.42	0.53409	.	0.154450	0.43260	D	0.000595	D	0.88407	0.6428	M	0.63428	1.95	0.32299	N	0.565254	D	0.67145	0.996	D	0.63381	0.914	D	0.89259	0.3596	10	0.62326	D	0.03	-10.6023	8.1672	0.31233	0.8218:0.0:0.0:0.1782	.	1108	Q2NKJ3	CTC1_HUMAN	R	1108	ENSP00000313759:L1108R	ENSP00000313759:L1108R	L	-	2	0	CTC1	8072834	0.989000	0.36119	0.918000	0.36340	0.349000	0.29174	3.050000	0.49877	2.133000	0.65898	0.533000	0.62120	CTA		0.597	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		4	10	0	0	0	1	0	4	10					C	8132109	A	C	8132109	3	2	493	1	0	0	0	0	1	0	0	0	1876	420	15	5	342	5	C17orf68	17	8132109	Missense_Mutation	SNP	A	TCGA-ZG-A9LZ-01A-11D-A41K-08	1035828	8132109	73063101	36	32759											
AKAP1	8165	broad.mit.edu	37	chr17	55183580	55183580	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagagcagctcatcccAggtggtggggccagtgcagg	8	5	19	9	0	1	1	1	0	0	1	2	2	2	2	2	7	3	3	2	7	1	0			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr17:55183580A>C	ENST00000337714.3	+	2	988	c.755A>C	c.(754-756)cAg>cCg	p.Q252P	AKAP1_ENST00000314126.3_Missense_Mutation_p.Q252P|AKAP1_ENST00000571629.1_Missense_Mutation_p.Q252P|AKAP1_ENST00000572557.1_Missense_Mutation_p.Q252P|AKAP1_ENST00000539273.1_Missense_Mutation_p.Q252P	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	252					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AGCTCATCCCAGGTGGTGGGG	0.567																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(754-756)cAg>cCg		A kinase (PRKA) anchor protein 1							111	115	113					17																	55183580		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55183580A>C	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.755A>C	17.37:g.55183580A>C	ENSP00000337736:p.Gln252Pro					AKAP1_ENST00000571629.1_Missense_Mutation_p.Q252P|AKAP1_ENST00000572557.1_Missense_Mutation_p.Q252P|AKAP1_ENST00000539273.1_Missense_Mutation_p.Q252P|AKAP1_ENST00000314126.3_Missense_Mutation_p.Q252P	p.Q252P	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			2	988	+	Breast(9;5.46e-08)		252					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.755A>C	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.525699	0.44969	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.20069	2.34;2.1;2.34	4.68	-4.38	0.03622	.	1.229450	0.05529	N	0.563699	T	0.15089	0.0364	L	0.50333	1.59	0.09310	N	1	P	0.38335	0.627	B	0.34489	0.184	T	0.18555	-1.0333	10	0.56958	D	0.05	1.0988	2.4146	0.04433	0.2674:0.4068:0.0809:0.2449	.	252	Q92667	AKAP1_HUMAN	P	252;252;294;252	ENSP00000337736:Q252P;ENSP00000314075:Q252P;ENSP00000443139:Q252P	ENSP00000314075:Q252P	Q	+	2	0	AKAP1	52538579	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.237000	0.08990	-1.023000	0.03342	0.533000	0.62120	CAG		0.567	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			22	38	0	0	0	1	0	22	38					C	55183580	A	C	55183580	3	2	493	1	0	0	0	0	1	0	0	0	445	188	7	5	757	5	AKAP1	17	55183580	Missense_Mutation	SNP	A	TCGA-ZG-A9LZ-01A-11D-A41K-08	47051471	55183580	26011630	37	32760											
EMR2	30817	broad.mit.edu	37	chr19	14884750	14884750	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctcaagcctctgtacCgtcacaagtctccatggggg	7	9	10	15	1	4	0	2	0	2	0	5	0	4	0	4	2	3	1	4	2	3	1			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr19:14884750C>T	ENST00000315576.3	-	4	650	c.199G>A	c.(199-201)Gac>Aac	p.D67N	EMR2_ENST00000594076.1_Splice_Site_p.D67N|EMR2_ENST00000353876.1_Splice_Site_p.D67N|EMR2_ENST00000595839.1_Splice_Site_p.D67N|EMR2_ENST00000353005.1_Splice_Site_p.D67N|EMR2_ENST00000594294.1_Splice_Site_p.D67N|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000392965.3_Splice_Site_p.D67N|EMR2_ENST00000346057.1_Splice_Site_p.D67N|EMR2_ENST00000392967.2_Splice_Site_p.D67N|EMR2_ENST00000596991.2_Splice_Site_p.D67N|EMR2_ENST00000601345.1_Splice_Site_p.D67N|EMR2_ENST00000392964.3_5'Flank	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	67	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.D67N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GCCTCTGTACCGTCACAAGTC	0.582																																						ENST00000315576.3																			1	Substitution - Missense(1)	p.D67N(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.e4+1		egf-like module containing, mucin-like, hormone receptor-like 2							130	122	125					19																	14884750		2203	4300	6503	SO:0001630	splice_region_variant	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14884750C>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.199+1G>A	19.37:g.14884750C>T						EMR2_ENST00000392965.3_Splice_Site_p.D67_splice|EMR2_ENST00000601345.1_Splice_Site_p.D67_splice|EMR2_ENST00000594076.1_Splice_Site_p.D67_splice|EMR2_ENST00000392967.2_Splice_Site_p.D67_splice|EMR2_ENST00000353876.1_Splice_Site_p.D67_splice|EMR2_ENST00000346057.1_Splice_Site_p.D67_splice|EMR2_ENST00000594294.1_Splice_Site_p.D67_splice|EMR2_ENST00000353005.1_Splice_Site_p.D67_splice|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000595839.1_Splice_Site_p.D67_splice|EMR2_ENST00000596991.2_Splice_Site_p.D67_splice	p.D67_splice	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			4	650	-			67			EGF-like 2; calcium-binding.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Splice_Site	SNP	ENST00000315576.3	37	c.199_splice	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299094	0.60195	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000360222;ENST00000392965;ENST00000392962	D;D;D;D;D;D;D	0.99051	-5.37;-5.37;-5.37;-5.37;-5.37;-5.37;-5.37	3.87	2.83	0.33086	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99086	0.9686	M	0.83012	2.62	0.24000	N	0.99621	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.991;1.0;1.0	D;D;P;D;P;D;D	0.91635	0.999;0.982;0.908;0.96;0.633;0.985;0.975	D	0.95651	0.8707	8	.	.	.	.	8.0793	0.30735	0.0:0.8795:0.0:0.1205	.	67;67;67;67;67;67;67	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	N	67	ENSP00000319883:D67N;ENSP00000376694:D67N;ENSP00000263380:D67N;ENSP00000319454:D67N;ENSP00000319838:D67N;ENSP00000376692:D67N;ENSP00000376689:D67N	.	D	-	1	0	EMR2	14745750	0.524000	0.26282	0.330000	0.25442	0.038000	0.13279	2.233000	0.43027	0.930000	0.37217	-0.507000	0.04495	GAC		0.582	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2		Missense_Mutation	4	121	0	0	0	1	0	4	121					T	14884750	C	T	14884750	5	4	493	1	0	0	0	0	0	0	1	0	5105	666	23	2	2344	2	EMR2	19	14884750	Splice_Site	SNP	C	TCGA-ZG-A9LZ-01A-11D-A41K-08		14884750	44244233	38	32761											
LTBP4	8425	broad.mit.edu	37	chr19	41135318	41135318	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacatcaacgagtgtgatGaggccgaggctgcctccccg	9	6	13	13	3	1	3	1	2	0	1	2	5	2	3	4	2	2	1	4	2	1	0	rs543939793		TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr19:41135318G>T	ENST00000308370.7	+	34	4735	c.4735G>T	c.(4735-4737)Gag>Tag	p.E1579*	LTBP4_ENST00000204005.9_Nonsense_Mutation_p.E1542*|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Nonsense_Mutation_p.E1512*|LTBP4_ENST00000243562.9_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1580	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGAGTGTGATGAGGCCGAGGC	0.637																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(4735-4737)Gag>Tag		latent transforming growth factor beta binding protein 4							50	54	52					19																	41135318		2159	4260	6419	SO:0001587	stop_gained	8425				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	g.chr19:41135318G>T	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4735G>T	19.37:g.41135318G>T	ENSP00000311905:p.Glu1579*					LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Nonsense_Mutation_p.E1512*|LTBP4_ENST00000204005.9_Nonsense_Mutation_p.E1542*|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000243562.9_3'UTR	p.E1579*	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		34	4735	+			1580			EGF-like 16.		O00508|O75412|O75413	Nonsense_Mutation	SNP	ENST00000308370.7	37	c.4735G>T		.	.	.	.	.	.	.	.	.	.	G	41	8.739644	0.98935	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819;ENST00000318809	.	.	.	3.75	3.75	0.43078	.	0.000000	0.38897	N	0.001538	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	14.8391	0.70209	0.0:0.0:1.0:0.0	.	.	.	.	X	1542;1579;1512;340	.	ENSP00000204005:E1542X	E	+	1	0	LTBP4	45827158	1.000000	0.71417	0.959000	0.39883	0.519000	0.34347	9.282000	0.95840	2.100000	0.63781	0.514000	0.50259	GAG		0.637	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		13	47	1	0	1.5739e-10	1	1.80342e-10	13	47					T	41135318	G	T	41135318	4	4	493	1	0	0	0	0	0	1	0	0	9076	1291	45	5	5160	5	LTBP4	19	41135318	Nonsense_Mutation	SNP	G	TCGA-ZG-A9LZ-01A-11D-A41K-08	26250568	41135318	17993665	39	32762											
ZNF574	64763	broad.mit.edu	37	chr19	42584019	42584019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggtagggggtgtccctctgCccacaacaccagtcccacca	8	6	11	16	0	1	0	0	0	1	0	3	0	3	0	5	3	2	1	5	3	2	1			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr19:42584019C>T	ENST00000600245.1	+	2	1916	c.1261C>T	c.(1261-1263)Ccc>Tcc	p.P421S	ZNF574_ENST00000222339.7_Missense_Mutation_p.P511S|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.P421S			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	421	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TGTCCCTCTGCCCACAACACC	0.577																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1261-1263)Ccc>Tcc		zinc finger protein 574							85	74	78					19																	42584019		2203	4300	6503	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584019C>T	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"Zinc fingers, C2H2-type"	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1261C>T	19.37:g.42584019C>T	ENSP00000469029:p.Pro421Ser					ZNF574_ENST00000359044.4_Missense_Mutation_p.P421S|ZNF574_ENST00000222339.7_Missense_Mutation_p.P511S|CTB-59C6.3_ENST00000594531.1_RNA	p.P421S			Q6ZN55	ZN574_HUMAN			2	1916	+		Prostate(69;0.059)	421			Pro-rich.		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.1261C>T	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	c	13.38	2.219696	0.39201	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.06768	3.26;3.28	4.29	4.29	0.51040	.	0.000000	0.64402	D	0.000001	T	0.04227	0.0117	N	0.08118	0	0.29637	N	0.844981	B;B	0.28713	0.141;0.22	B;B	0.22880	0.012;0.042	T	0.17228	-1.0376	10	0.40728	T	0.16	-21.9209	9.7919	0.40710	0.0:0.9025:0.0:0.0975	.	421;510	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	S	511;421;28	ENSP00000222339:P511S;ENSP00000351939:P421S	ENSP00000222339:P511S	P	+	1	0	ZNF574	47275859	0.948000	0.32251	1.000000	0.80357	0.870000	0.49936	2.713000	0.47194	2.389000	0.81357	0.598000	0.82781	CCC		0.577	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		23	36	0	0	0	1	0	23	36					T	42584019	C	T	42584019	3	4	493	1	0	0	0	0	1	0	0	0	18003	739	26	3	1263	3	ZNF574	19	42584019	Missense_Mutation	SNP	C	TCGA-ZG-A9LZ-01A-11D-A41K-08	1448701	42584019	16544964	40	32763											
LILRA4	23547	broad.mit.edu	37	chr19	54849922	54849922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgatcacgggacctggctCggcccacaggatgggtttgg	6	8	17	10	2	1	1	1	1	0	0	2	3	1	3	2	7	0	2	2	7	0	1	rs560878491		TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr19:54849922C>T	ENST00000291759.4	-	3	156	c.100G>A	c.(100-102)Gag>Aag	p.E34K	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	34	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				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)		GGACCTGGCTCGGCCCACAGG	0.572											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C|||	1	0.000199681	0	0	5008	,	,		19641	0		0	False		,,,				2504	0.001					ENST00000291759.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(100-102)Gag>Aag		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							68	64	65					19																	54849922		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54849922C>T	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.100G>A	19.37:g.54849922C>T	ENSP00000291759:p.Glu34Lys		OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1003		p.E34K	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	3	156	-	Ovarian(34;0.19)		34			Ig-like C2-type 1.		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.100G>A	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	19.30	3.801172	0.70567	.	.	ENSG00000239961	ENST00000291759	T	0.14022	2.54	2.5	2.5	0.30297	Immunoglobulin-like fold (1);	0.117789	0.38111	N	0.001805	T	0.32704	0.0838	M	0.76838	2.35	0.25443	N	0.988072	D	0.89917	1.0	D	0.72338	0.977	T	0.02015	-1.1229	10	0.87932	D	0	.	8.6093	0.33793	0.0:1.0:0.0:0.0	.	34	P59901	LIRA4_HUMAN	K	34	ENSP00000291759:E34K	ENSP00000291759:E34K	E	-	1	0	LILRA4	59541734	0.048000	0.20356	0.848000	0.33437	0.044000	0.14063	0.896000	0.28377	1.699000	0.51192	0.557000	0.71058	GAG		0.572	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		15	35	0	0	0	1	0	15	35					T	54849922	C	T	54849922	3	4	493	1	0	0	0	0	1	0	0	0	8787	893	31	2	1423	2	LILRA4	19	54849922	Missense_Mutation	SNP	C	TCGA-ZG-A9LZ-01A-11D-A41K-08	12265903	54849922	4279061	41	32764											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673674	3673674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcgaccggcgtggctgaGggccagctgggcgggcgggc	4	3	23	11	5	0	1	0	1	0	0	0	3	0	1	2	7	1	2	2	7	0	0			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr20:3673674G>A	ENST00000344754.4	-	14	3612	c.3613C>T	c.(3613-3615)Ctc>Ttc	p.L1205F	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1205F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1205	Ig-like C2-type 12.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			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						GCGTGGCTGAGGGCCAGCTGG	0.706																																						ENST00000344754.4																			0				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						c.(3613-3615)Ctc>Ttc		sialic acid binding Ig-like lectin 1, sialoadhesin							13	18	16					20																	3673674		2173	4270	6443	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673674G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3613C>T	20.37:g.3673674G>A	ENSP00000341141:p.Leu1205Phe					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1205F	p.L1205F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			14	3612	-			1205			Ig-like C2-type 12.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3613C>T	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.91|15.91	2.970979|2.970979	0.53614|0.53614	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000344754;ENST00000202578|ENST00000419548	T;T|.	0.16073|.	2.37;2.37|.	4.74|4.74	1.37|1.37	0.22104|0.22104	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.35870|.	N|.	0.002930|.	T|T	0.53546|0.53546	0.1803|0.1803	M|M	0.79693|0.79693	2.465|2.465	0.31406|0.31406	N|N	0.676079|0.676079	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.70935|.	0.971;0.951|.	T|T	0.57843|0.57843	-0.7741|-0.7741	10|5	0.62326|.	D|.	0.03|.	.|.	4.2731|4.2731	0.10796|0.10796	0.113:0.0:0.4782:0.4089|0.113:0.0:0.4782:0.4089	.|.	1205;1205|.	Q9BZZ2;Q9BZZ2-3|.	SN_HUMAN;.|.	F|L	1205|18	ENSP00000341141:L1205F;ENSP00000202578:L1205F|.	ENSP00000202578:L1205F|.	L|P	-|-	1|2	0|0	SIGLEC1|SIGLEC1	3621674|3621674	0.970000|0.970000	0.33590|0.33590	0.999000|0.999000	0.59377|0.59377	0.618000|0.618000	0.37518|0.37518	0.751000|0.751000	0.26348|0.26348	0.568000|0.568000	0.29311|0.29311	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.706	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		18	18	0	0	0	1	0	18	18					A	3673674	G	A	3673674	3	1	493	1	0	0	0	0	1	0	0	0	14305	1000	35	3	1548	3	SIGLEC1	20	3673674	Missense_Mutation	SNP	G	TCGA-ZG-A9LZ-01A-11D-A41K-08		3673674	59351846	42	32765											
AKAP4	8852	broad.mit.edu	37	chrX	49958074	49958074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctataagggcactgacCaagcgcttcagcatggcctc	10	8	9	14	1	2	1	2	1	0	0	3	1	2	1	3	2	2	3	3	2	3	3			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chrX:49958074C>A	ENST00000376056.2	-	5	1413	c.1263G>T	c.(1261-1263)ttG>ttT	p.L421F	AKAP4_ENST00000358526.2_Missense_Mutation_p.L430F|AKAP4_ENST00000376064.3_Missense_Mutation_p.L421F|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GGGCACTGACCAAGCGCTTCA	0.458																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(1261-1263)ttG>ttT		A kinase (PRKA) anchor protein 4							110	101	104					X																	49958074		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49958074C>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1263G>T	X.37:g.49958074C>A	ENSP00000365224:p.Leu421Phe					AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.L421F|AKAP4_ENST00000358526.2_Missense_Mutation_p.L430F	p.L421F			Q5JQC9	AKAP4_HUMAN			5	1413	-	Ovarian(276;0.236)		430						Missense_Mutation	SNP	ENST00000376056.2	37	c.1263G>T	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	8.020	0.759438	0.15846	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.15487	2.42;2.42;2.42	4.6	-3.32	0.04973	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.39083	N	0.001474	T	0.28797	0.0714	M	0.77820	2.39	0.46609	D	0.999126	D	0.76494	0.999	D	0.91635	0.999	T	0.30995	-0.9959	9	.	.	.	-7.7426	0.4257	0.00463	0.2963:0.1979:0.2893:0.2166	.	430	Q5JQC9	AKAP4_HUMAN	F	421;430;421	ENSP00000365224:L421F;ENSP00000351327:L430F;ENSP00000365232:L421F	.	L	-	3	2	AKAP4	49844814	0.077000	0.21312	0.677000	0.29947	0.058000	0.15608	-0.957000	0.03861	-0.386000	0.07821	-0.374000	0.07098	TTG		0.458	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		53	9	1	0	9.86064e-34	1	1.20519e-33	53	9					A	49958074	C	A	49958074	3	1	493	1	0	0	0	0	1	0	0	0	453	593	21	5	1282	5	AKAP4	23	49958074	Missense_Mutation	SNP	C	TCGA-ZG-A9LZ-01A-11D-A41K-08		49958074	105312486	43	32766											
PRAMEF1	65121	broad.mit.edu	37	chr1	12855943	12855943	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgggctgagcaagttaaGcctggagacgtatcctgccc	9	8	13	11	1	0	2	0	1	0	1	1	3	1	2	3	2	3	4	3	2	3	2			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr1:12855943G>T	ENST00000332296.7	+	4	1326	c.1223G>T	c.(1222-1224)aGc>aTc	p.S408I	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.S163I	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	408					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAAGTTAAGCCTGGAGACG	0.542																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1222-1224)aGc>aTc		PRAME family member 1							34	35	35					1																	12855943		2198	4288	6486	SO:0001583	missense	65121							g.chr1:12855943G>T	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1223G>T	1.37:g.12855943G>T	ENSP00000332134:p.Ser408Ile					PRAMEF1_ENST00000400814.3_Missense_Mutation_p.S163I	p.S408I	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		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)	4	1326	+	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)	408					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.1223G>T	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	11.86	1.763307	0.31228	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.07021	3.23;3.23	1.56	0.534	0.17127	.	1.433700	0.04128	N	0.317456	T	0.10594	0.0259	L	0.34521	1.04	0.09310	N	1	P	0.46952	0.887	P	0.48921	0.595	T	0.27606	-1.0069	10	0.33940	T	0.23	.	5.4772	0.16702	0.0:0.3576:0.6424:0.0	.	408	O95521	PRAM1_HUMAN	I	408;163	ENSP00000332134:S408I;ENSP00000383616:S163I	ENSP00000332134:S408I	S	+	2	0	PRAMEF1	12778530	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.343000	0.02642	0.178000	0.19917	0.205000	0.17691	AGC		0.542	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		5	106	1	0	0.00198382	1	0.00206161	5	106					T	12855943	G	T	12855943	3	4	494	1	0	0	0	0	1	0	0	0	12425	971	34	5	1233	5	PRAMEF1	1	12855943	Missense_Mutation	SNP	G	TCGA-ZG-A9M4-01A-11D-A41K-08		12855943	236394678	1	32767											
IGSF9	57549	broad.mit.edu	37	chr1	159912790	159912790	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attcggggagagtagaggccGaactggatgaagatgggaag	13	6	18	4	2	0	4	0	1	0	3	1	8	0	6	1	5	1	1	1	5	4	2	rs573559309	byFrequency	TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr1:159912790G>A	ENST00000368094.1	-	3	407	c.210C>T	c.(208-210)ttC>ttT	p.F70F	IGSF9_ENST00000361509.3_Silent_p.F70F	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	70	Ig-like 1.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.F70F(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)			AGTAGAGGCCGAACTGGATGA	0.602													g|||	3	0.000599042	0	0	5008	,	,		17215	0		0	False		,,,				2504	0.0031					ENST00000368094.1																			1	Substitution - coding silent(1)	p.F70F(1)	large_intestine(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						c.(208-210)ttC>ttT		immunoglobulin superfamily, member 9							58	60	59					1																	159912790		2203	4300	6503	SO:0001819	synonymous_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159912790G>A	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.210C>T	1.37:g.159912790G>A						IGSF9_ENST00000361509.3_Silent_p.F70F	p.F70F	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	407	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	70			Ig-like 1.			Silent	SNP	ENST00000368094.1	37	c.210C>T	CCDS44254.1																																																																																				0.602	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		5	53	0	0	0	1	0	5	53					A	159912790	G	A	159912790	2	1	494	1	0	0	0	0	0	0	0	1	7605	1049	37	2		2	IGSF9	1	159912790	Silent	SNP	G	TCGA-ZG-A9M4-01A-11D-A41K-08	147056847	159912790	89337831	2	32768											
KCNK2	3776	broad.mit.edu	37	chr1	215408192	215408192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggagagttcagagcacacGctgctgagtggacagccaac	11	6	14	10	1	1	3	1	1	0	2	1	5	1	4	1	2	4	4	1	2	1	1			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr1:215408192G>A	ENST00000444842.2	+	7	1135	c.985G>A	c.(985-987)Gct>Act	p.A329T	KCNK2_ENST00000391895.2_Missense_Mutation_p.A325T|KCNK2_ENST00000391894.2_Missense_Mutation_p.A314T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	329					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CAGAGCACACGCTGCTGAGTG	0.458																																						ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(985-987)Gct>Act		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						102	103	103					1																	215408192		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215408192G>A	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.985G>A	1.37:g.215408192G>A	ENSP00000394033:p.Ala329Thr					KCNK2_ENST00000391894.2_Missense_Mutation_p.A314T|KCNK2_ENST00000391895.2_Missense_Mutation_p.A325T	p.A329T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	7	1135	+			329					A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.985G>A	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216304	0.95104	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.22743	1.94;1.94;1.94	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.987;0.999	T	0.02683	-1.1124	10	0.45353	T	0.12	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	314;329;325	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	T	325;314;329	ENSP00000375765:A325T;ENSP00000375764:A314T;ENSP00000394033:A329T	ENSP00000375764:A314T	A	+	1	0	KCNK2	213474815	1.000000	0.71417	0.897000	0.35233	0.868000	0.49771	9.869000	0.99810	2.813000	0.96785	0.561000	0.74099	GCT		0.458	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		23	57	0	0	0	1	0	23	57					A	215408192	G	A	215408192	3	1	494	1	0	0	0	0	1	0	0	0	8066	1087	38	1	1054	1	KCNK2	1	215408192	Missense_Mutation	SNP	G	TCGA-ZG-A9M4-01A-11D-A41K-08	55495402	215408192	33842429	3	32769											
RNF144A	9781	broad.mit.edu	37	chr2	7137191	7137191	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgcatcttctgtactcTggttggtctttttggataaa	8	17	8	8	0	4	0	0	0	4	0	4	1	4	1	1	3	2	3	1	3	4	6			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr2:7137191T>G	ENST00000320892.6	+	3	576	c.134T>G	c.(133-135)cTg>cGg	p.L45R	RNF144A_ENST00000467276.1_Intron	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	45					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			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)		TTCTGTACTCTGGTTGGTCTT	0.458																																						ENST00000320892.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25						c.e3+1		ring finger protein 144A							141	127	132					2																	7137191		2203	4300	6503	SO:0001630	splice_region_variant	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7137191T>G	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"RING-type (C3HC4) zinc fingers"	20457	protein-coding gene	gene with protein product			"ring finger protein 144"	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.135+1T>G	2.37:g.7137191T>G						RNF144A_ENST00000467276.1_Intron	p.L45_splice	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	3	576	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	45					D6W4Y6|Q585H5	Splice_Site	SNP	ENST00000320892.6	37	c.135_splice	CCDS1657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.43|15.43	2.831363|2.831363	0.50845|0.50845	.|.	.|.	ENSG00000151692|ENSG00000151692	ENST00000432850|ENST00000320892;ENST00000427092;ENST00000416587;ENST00000433456	.|T;T;T	.|0.44083	.|2.02;0.93;0.93	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Zinc finger, RING-type (2);	.|0.066923	.|0.64402	.|D	.|0.000007	T|T	0.42899|0.42899	0.1223|0.1223	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|P	.|0.41313	.|0.745	.|P	.|0.46758	.|0.526	T|T	0.14896|0.14896	-1.0456|-1.0456	5|10	.|0.25106	.|T	.|0.35	.|.	16.1189|16.1189	0.81329|0.81329	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|45	.|P50876	.|R144A_HUMAN	G|R	41|45	.|ENSP00000321330:L45R;ENSP00000414420:L45R;ENSP00000402645:L45R	.|ENSP00000321330:L45R	C|L	+|+	1|2	0|0	RNF144A|RNF144A	7054642|7054642	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.722000|0.722000	0.41435|0.41435	7.555000|7.555000	0.82223|0.82223	2.263000|2.263000	0.75096|0.75096	0.533000|0.533000	0.62120|0.62120	TGT|CTG		0.458	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746	Missense_Mutation	14	51	0	0	0	1	0	14	51					G	7137191	T	G	7137191	5	3	494	1	0	0	0	0	0	0	1	0	13445	1594	55	5	136	5	RNF144A	2	7137191	Splice_Site	SNP	T	TCGA-ZG-A9M4-01A-11D-A41K-08		7137191	236062182	4	32770											
CCDC88A	55704	broad.mit.edu	37	chr2	55523004	55523004	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaagtaggtatcttcagtTtttcgaggaccaggtctcaa	11	13	10	7	1	3	1	2	1	2	0	5	3	3	2	1	3	0	3	1	3	4	5			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr2:55523004T>G	ENST00000436346.1	-	31	6121	c.5280A>C	c.(5278-5280)aaA>aaC	p.K1760N	CCDC88A_ENST00000263630.8_Missense_Mutation_p.K1732N|CCDC88A_ENST00000413716.2_Intron|CCDC88A_ENST00000422883.2_Missense_Mutation_p.K261N|CCDC88A_ENST00000336838.6_Missense_Mutation_p.K1759N	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1760					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			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						TATCTTCAGTTTTTCGAGGAC	0.428																																						ENST00000436346.1																			0				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						c.(5278-5280)aaA>aaC		coiled-coil domain containing 88A							84	86	85					2																	55523004		2203	4300	6503	SO:0001583	missense	55704				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	g.chr2:55523004T>G	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.5280A>C	2.37:g.55523004T>G	ENSP00000410608:p.Lys1760Asn					CCDC88A_ENST00000263630.8_Missense_Mutation_p.K1732N|CCDC88A_ENST00000413716.2_Intron|CCDC88A_ENST00000422883.2_Missense_Mutation_p.K261N|CCDC88A_ENST00000336838.6_Missense_Mutation_p.K1759N	p.K1760N	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			31	6121	-			1760					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.5280A>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	12.02|12.02|12.02	1.813264|1.813264|1.813264	0.32053|0.32053|0.32053	.|.|.	.|.|.	ENSG00000115355|ENSG00000115355|ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000426576|ENST00000444458|ENST00000456975	T;T;T;T;T|.|.	0.55052|.|.	2.25;2.22;2.48;0.54;1.16|.|.	5.08|5.08|5.08	3.26|3.26|3.26	0.37387|0.37387|0.37387	.|.|.	0.125790|0.125790|.	0.34906|0.34906|.	U|U|.	0.003589|0.003589|.	T|T|T	0.49949|0.49949|0.49949	0.1587|0.1587|0.1587	L|L|L	0.46157|0.46157|0.46157	1.445|1.445|1.445	0.34227|0.34227|0.34227	D|D|D	0.676069|0.676069|0.676069	P;P;D;P;D;P|.|.	0.67145|.|.	0.928;0.905;0.996;0.756;0.973;0.928|.|.	P;P;D;B;P;P|.|.	0.77557|.|.	0.647;0.526;0.99;0.287;0.798;0.647|.|.	T|T|T	0.57248|0.57248|0.57248	-0.7844|-0.7844|-0.7844	10|7|5	0.38643|0.72032|.	T|D|.	0.18|0.01|.	-15.6596|-15.6596|-15.6596	8.3706|8.3706|8.3706	0.32412|0.32412|0.32412	0.0:0.6128:0.0:0.3872|0.0:0.6128:0.0:0.3872|0.0:0.6128:0.0:0.3872	.|.|.	1732;1677;261;1760;1759;1731|.|.	Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.|.	.;.;.;GRDN_HUMAN;.;.|.|.	N|T|H	1759;1732;1760;261;777;935|263|713	ENSP00000338728:K1759N;ENSP00000263630:K1732N;ENSP00000410608:K1760N;ENSP00000390012:K777N;ENSP00000405080:K935N|.|.	ENSP00000263630:K1732N|ENSP00000413401:K263T|.	K|K|N	-|-|-	3|2|1	2|0|0	CCDC88A|CCDC88A|CCDC88A	55376508|55376508|55376508	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.977000|0.977000|0.977000	0.68977|0.68977|0.68977	0.997000|0.997000|0.997000	0.29731|0.29731|0.29731	0.618000|0.618000|0.618000	0.30179|0.30179|0.30179	-0.468000|-0.468000|-0.468000	0.05107|0.05107|0.05107	AAA|AAA|AAC		0.428	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		26	66	0	0	0	1	0	26	66					G	55523004	T	G	55523004	3	3	494	1	0	0	0	0	1	0	0	0	2863	1838	64	5	343	5	CCDC88A	2	55523004	Missense_Mutation	SNP	T	TCGA-ZG-A9M4-01A-11D-A41K-08	48385813	55523004	187676369	5	32771											
CCT4	10575	broad.mit.edu	37	chr2	62099679	62099681	+	In_Frame_Del	DEL	AAC	AAC	-																															accagtttgttagaaccacgAacaacaattgtaactgtttt																								rs201767216		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr2:62099679_62099681delAAC	ENST00000394440.3	-	11	1464_1466	c.1168_1170delGTT	c.(1168-1170)gttdel	p.V390del	CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544079.1_In_Frame_Del_p.V360del|CCT4_ENST00000544185.1_In_Frame_Del_p.V240del|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_In_Frame_Del_p.V334del	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	390					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			TAGAACCACGAACAACAATTGTA	0.404																																						ENST00000394440.3																			0				breast(1)|large_intestine(2)|lung(6)|ovary(2)	11						c.(1168-1170)del		chaperonin containing TCP1, subunit 4 (delta)																																				SO:0001651	inframe_deletion	10575				'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	g.chr2:62099679_62099681delAAC		CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"Heat Shock Proteins / Chaperonins"	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1168_1170delGTT	2.37:g.62099682_62099684delAAC	ENSP00000377958:p.Val390del					AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_In_Frame_Del_p.V360del|CCT4_ENST00000538252.1_In_Frame_Del_p.V334del|CCT4_ENST00000544185.1_In_Frame_Del_p.V240del|CCT4_ENST00000461540.2_Intron	p.V390del	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)		11	1464_1466	-	Lung NSC(7;0.035)|all_lung(7;0.0691)		390					B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	In_Frame_Del	DEL	ENST00000394440.3	37	c.1168_1170delGTT	CCDS33206.1																																																																																				0.404	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			9	94						9	94	---	---	---	---	-	62099681	AAC	-	62099679	7	5	494	1	0	1	0	1	0	0	0	0	2955	233	9	0	465	0	CCT4	2	62099679	In_Frame_Del	DEL	AAC	TCGA-ZG-A9M4-01A-11D-A41K-08	6576675	62099679	181099694	6	32772											
ANKRD53	79998	broad.mit.edu	37	chr2	71206323	71206323	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaccccgccccgcgctgaCcccagccccagcaaggagtc	7	3	9	22	3	1	1	1	1	0	0	2	2	1	2	8	1	2	2	8	1	1	0			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr2:71206323C>G	ENST00000360589.3	+	2	301	c.267C>G	c.(265-267)gaC>gaG	p.D89E	AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000457410.1_Intron|ANKRD53_ENST00000272421.6_Missense_Mutation_p.D89E|ANKRD53_ENST00000441349.1_Intron	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	89										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CCCGCGCTGACCCCAGCCCCA	0.716																																						ENST00000272421.6																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						c.(265-267)gaC>gaG		ankyrin repeat domain 53							38	41	40					2																	71206323		2199	4296	6495	SO:0001583	missense	79998							g.chr2:71206323C>G	BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"Ankyrin repeat domain containing"	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.267C>G	2.37:g.71206323C>G	ENSP00000353796:p.Asp89Glu					ANKRD53_ENST00000360589.3_Missense_Mutation_p.D89E|ANKRD53_ENST00000441349.1_Intron|ANKRD53_ENST00000457410.1_Intron|AC007040.11_ENST00000606025.1_Intron	p.D89E	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN			2	533	+			89					Q8IYP8	Missense_Mutation	SNP	ENST00000360589.3	37	c.267C>G	CCDS46321.1	.	.	.	.	.	.	.	.	.	.	c	10.67	1.415738	0.25552	.	.	ENSG00000144031	ENST00000272421;ENST00000360589	T;T	0.65364	-0.15;-0.12	2.43	-0.583	0.11706	.	6.950280	0.00447	N	0.000086	T	0.42765	0.1217	N	0.19112	0.55	0.09310	N	1	P;P	0.41450	0.675;0.75	B;B	0.38755	0.037;0.281	T	0.21177	-1.0253	10	0.12430	T	0.62	6.9663	3.9417	0.09329	0.1858:0.5462:0.0:0.268	.	89;89	Q8N9V6;Q8N9V6-2	ANR53_HUMAN;.	E	89	ENSP00000272421:D89E;ENSP00000353796:D89E	ENSP00000272421:D89E	D	+	3	2	ANKRD53	71059831	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.325000	0.19628	-0.498000	0.06632	-2.311000	0.00256	GAC		0.716	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933		23	54	0	0	0	1	0	23	54					G	71206323	C	G	71206323	3	3	494	1	0	0	0	0	1	0	0	0	679	506	18	5	273	5	ANKRD53	2	71206323	Missense_Mutation	SNP	C	TCGA-ZG-A9M4-01A-11D-A41K-08	9106644	71206323	171993050	7	32773											
TET3	200424	broad.mit.edu	37	chr2	74329100	74329100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggcaggaggaggctgccCggctgggcctgggccagcag	6	3	19	13	2	0	0	0	0	0	0	0	2	0	2	3	7	2	4	3	7	0	0			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr2:74329100C>T	ENST00000409262.3	+	9	4780	c.4780C>T	c.(4780-4782)Cgg>Tgg	p.R1594W		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1594					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			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						GGAGGCTGCCCGGCTGGGCCT	0.662																																						ENST00000409262.3																			0				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						c.(4780-4782)Cgg>Tgg		tet methylcytosine dioxygenase 3							11	15	14					2																	74329100		2009	4145	6154	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74329100C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4780C>T	2.37:g.74329100C>T	ENSP00000386869:p.Arg1594Trp						p.R1594W	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			9	4780	+			1594					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.4780C>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517283	0.44763	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.13901	2.55	5.18	4.29	0.51040	.	0.231264	0.37304	N	0.002150	T	0.28665	0.0710	L	0.54323	1.7	0.35730	D	0.817885	D	0.89917	1.0	D	0.64687	0.928	T	0.31024	-0.9958	10	0.54805	T	0.06	.	11.885	0.52598	0.3167:0.6833:0.0:0.0	.	1594	O43151	TET3_HUMAN	W	1594;1478	ENSP00000386869:R1594W	ENSP00000233310:R1478W	R	+	1	2	TET3	74182608	0.767000	0.28508	0.994000	0.49952	0.707000	0.40811	1.386000	0.34419	1.383000	0.46405	0.655000	0.94253	CGG		0.662	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			18	17	0	0	0	1	0	18	17					T	74329100	C	T	74329100	3	4	494	1	0	0	0	0	1	0	0	0	15768	643	23	2	4814	2	TET3	2	74329100	Missense_Mutation	SNP	C	TCGA-ZG-A9M4-01A-11D-A41K-08	3122777	74329100	168870273	8	32774											
SCN7A	6332	broad.mit.edu	37	chr2	167328878	167328878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccatggatcaccgaggaagGaaaatgatcctgcccagaca	14	6	10	11	1	1	2	1	1	0	1	3	6	3	5	4	3	1	0	4	3	3	0			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr2:167328878G>A	ENST00000409855.1	-	5	647	c.521C>T	c.(520-522)tCc>tTc	p.S174F		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	174					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ACCGAGGAAGGAAAATGATCC	0.348																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(520-522)tCc>tTc		sodium channel, voltage-gated, type VII, alpha subunit							51	51	51					2																	167328878		1888	4150	6038	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167328878G>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.521C>T	2.37:g.167328878G>A	ENSP00000386796:p.Ser174Phe						p.S174F	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			5	647	-			174						Missense_Mutation	SNP	ENST00000409855.1	37	c.521C>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929664	0.52759	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.97279	-4.32;-4.32;-4.32	5.37	3.45	0.39498	Ion transport (1);	0.502069	0.18563	N	0.137562	D	0.95345	0.8489	M	0.70595	2.14	0.32279	N	0.567884	B	0.15930	0.015	B	0.18263	0.021	D	0.94153	0.7407	10	0.72032	D	0.01	.	8.0343	0.30482	0.0885:0.0:0.7065:0.2051	.	174	Q01118	SCN7A_HUMAN	F	174	ENSP00000386796:S174F;ENSP00000413699:S174F;ENSP00000403846:S174F	ENSP00000259060:S174F	S	-	2	0	SCN7A	167037124	1.000000	0.71417	0.999000	0.59377	0.922000	0.55478	5.894000	0.69806	0.635000	0.30488	0.655000	0.94253	TCC		0.348	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			8	5	0	0	0	1	0	8	5					A	167328878	G	A	167328878	3	1	494	1	0	0	0	0	1	0	0	0	13923	1174	41	3	4611	3	SCN7A	2	167328878	Missense_Mutation	SNP	G	TCGA-ZG-A9M4-01A-11D-A41K-08	92999778	167328878	75870495	9	32775											
PTPN23	25930	broad.mit.edu	37	chr3	47454084	47454084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggtgtgcctcctccatgCaaacccttggccagtgcaag	8	9	10	14	0	0	0	0	0	0	0	2	0	2	0	5	2	4	2	5	2	2	1			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr3:47454084C>G	ENST00000265562.4	+	24	4475	c.4398C>G	c.(4396-4398)tgC>tgG	p.C1466W	PTPN23_ENST00000431726.1_Missense_Mutation_p.C1340W	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1466					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			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)		CTCCTCCATGCAAACCCTTGG	0.602																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(4396-4398)tgC>tgG		protein tyrosine phosphatase, non-receptor type 23							94	87	89					3																	47454084		2203	4300	6503	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47454084C>G	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4398C>G	3.37:g.47454084C>G	ENSP00000265562:p.Cys1466Trp					PTPN23_ENST00000431726.1_Missense_Mutation_p.C1340W	p.C1466W	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	24	4475	+			1466					A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.4398C>G	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183160	0.38511	.	.	ENSG00000076201	ENST00000265562	T	0.02631	4.22	4.25	1.33	0.21861	.	0.904364	0.09473	N	0.797475	T	0.01800	0.0057	N	0.14661	0.345	0.40040	D	0.975641	P	0.41643	0.758	B	0.32980	0.156	T	0.61608	-0.7028	10	0.36615	T	0.2	-6.3802	8.0202	0.30404	0.0:0.7117:0.0:0.2883	.	1466	Q9H3S7	PTN23_HUMAN	W	1466	ENSP00000265562:C1466W	ENSP00000265562:C1466W	C	+	3	2	PTPN23	47429088	0.915000	0.31059	0.026000	0.17262	0.767000	0.43475	0.756000	0.26419	0.062000	0.16340	0.557000	0.71058	TGC		0.602	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		10	29	0	0	0	1	0	10	29					G	47454084	C	G	47454084	3	3	494	1	0	0	0	0	1	0	0	0	12788	718	25	5	4492	5	PTPN23	3	47454084	Missense_Mutation	SNP	C	TCGA-ZG-A9M4-01A-11D-A41K-08		47454084	150568346	10	32776											
AGPAT9	84803	broad.mit.edu	37	chr4	84519225	84519225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaccctcagttcggtgatGcattttggaacagtagtaaa	13	12	9	7	1	1	1	1	1	0	0	2	2	1	2	1	2	3	4	1	2	5	6			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr4:84519225G>T	ENST00000395226.2	+	11	1236	c.1018G>T	c.(1018-1020)Gca>Tca	p.A340S	AGPAT9_ENST00000264409.4_Missense_Mutation_p.A340S	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	340					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				GTTCGGTGATGCATTTTGGAA	0.448																																						ENST00000395226.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13						c.(1018-1020)Gca>Tca		1-acylglycerol-3-phosphate O-acyltransferase 9							132	121	125					4																	84519225		2203	4300	6503	SO:0001583	missense	84803				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr4:84519225G>T	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	28157	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, theta"	610958	"1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.1018G>T	4.37:g.84519225G>T	ENSP00000378651:p.Ala340Ser					AGPAT9_ENST00000264409.4_Missense_Mutation_p.A340S	p.A340S	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN			11	1236	+		Hepatocellular(203;0.114)	340					Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	c.1018G>T	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854015	0.71719	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.49432	0.78;0.78	5.62	5.62	0.85841	.	0.046704	0.85682	D	0.000000	T	0.56978	0.2022	M	0.81614	2.55	0.80722	D	1	P	0.40050	0.7	B	0.40038	0.317	T	0.61987	-0.6949	10	0.49607	T	0.09	-10.3612	19.6718	0.95914	0.0:0.0:1.0:0.0	.	340	Q53EU6	GPAT3_HUMAN	S	340	ENSP00000378651:A340S;ENSP00000264409:A340S	ENSP00000264409:A340S	A	+	1	0	AGPAT9	84738249	1.000000	0.71417	0.997000	0.53966	0.560000	0.35617	9.764000	0.98949	2.639000	0.89480	0.557000	0.71058	GCA		0.448	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		17	69	1	0	1.56452e-12	1	1.76425e-12	17	69					T	84519225	G	T	84519225	3	4	494	1	0	0	0	0	1	0	0	0	392	1319	46	5	1056	5	AGPAT9	4	84519225	Missense_Mutation	SNP	G	TCGA-ZG-A9M4-01A-11D-A41K-08		84519225	106635051	11	32777											
PARP8	79668	broad.mit.edu	37	chr5	50074463	50074463	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcgactacactgttcacttAcacagtatttaaatggccca	12	13	5	11	1	1	0	1	0	0	0	2	1	1	0	1	1	2	2	1	1	5	7	rs369907021		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr5:50074463A>G	ENST00000281631.5	+	9	807	c.649A>G	c.(649-651)Aca>Gca	p.T217A	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.T217A|PARP8_ENST00000505554.1_Missense_Mutation_p.T196A|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.T217A|PARP8_ENST00000514067.2_Missense_Mutation_p.T217A	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	217						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			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)				CTGTTCACTTACACAGTATTT	0.318																																						ENST00000281631.5																			0				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						c.(649-651)Aca>Gca		poly (ADP-ribose) polymerase family, member 8		A	ALA/THR,ALA/THR,ALA/THR	1,4405	2.1+/-5.4	0,1,2202	44	46	45		649,649,649	5.7	1	5		45	0,8600		0,0,4300	no	missense,missense,missense	PARP8	NM_001178055.1,NM_001178056.1,NM_024615.3	58,58,58	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	217/855,217/813,217/855	50074463	1,13005	2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50074463A>G	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.649A>G	5.37:g.50074463A>G	ENSP00000281631:p.Thr217Ala					PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.T196A|PARP8_ENST00000503750.2_Missense_Mutation_p.T217A|PARP8_ENST00000514067.2_Missense_Mutation_p.T217A|PARP8_ENST00000505697.2_Missense_Mutation_p.T217A|PARP8_ENST00000511363.2_3'UTR	p.T217A	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			9	807	+		Lung NSC(810;0.0305)|Breast(144;0.222)	217					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.649A>G	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.453682	0.63290	2.27E-4	0.0	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	L	0.29908	0.895	0.80722	D	1	P;P;P	0.52842	0.956;0.865;0.956	D;B;D	0.65010	0.931;0.354;0.931	T	0.60905	-0.7170	8	.	.	.	-15.1241	14.2659	0.66118	1.0:0.0:0.0:0.0	.	109;217;217	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	A	217;217;217;217;196	.	.	T	+	1	0	PARP8	50110220	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	4.858000	0.62947	2.302000	0.77476	0.533000	0.62120	ACA		0.318	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		38	65	0	0	0	1	0	38	65					G	50074463	A	G	50074463	3	3	494	1	0	0	0	0	1	0	0	0	11465	391	14	4	683	4	PARP8	5	50074463	Missense_Mutation	SNP	A	TCGA-ZG-A9M4-01A-11D-A41K-08		50074463	130840797	12	32778											
CDK7	1022	broad.mit.edu	37	chr5	68565120	68565120	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaactgaggaacagtggccGgtaagcctttatgcattttc	10	11	10	10	1	0	1	0	1	0	0	1	2	0	2	3	3	4	2	3	3	4	5	rs111845256		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr5:68565120G>A	ENST00000256443.3	+	9	817	c.714G>A	c.(712-714)ccG>ccA	p.P238P	CDK7_ENST00000514676.1_Splice_Site_p.P201P|CDK7_ENST00000502604.1_Splice_Site_p.P145P|CDK7_ENST00000513629.1_3'UTR	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	238	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		AACAGTGGCCGGTAAGCCTTT	0.363								Nucleotide excision repair (NER)																														ENST00000502604.1																			0				endometrium(1)|lung(2)	3						c.e8+1	Nucleotide excision repair (NER)	cyclin-dependent kinase 7		G		0,4406		0,0,2203	92	85	87		714	1.3	1	5	dbSNP_132	87	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice	CDK7	NM_001799.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		238/347	68565120	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	1022				androgen receptor signaling pathway|cell division|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|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	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity	g.chr5:68565120G>A		CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"Cyclin-dependent kinases", "General transcription factor IIH complex subunits"	1778	protein-coding gene	gene with protein product		601955	"cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)", "cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.714+1G>A	5.37:g.68565120G>A						CDK7_ENST00000256443.3_Splice_Site_p.P238_splice|CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000514676.1_Splice_Site_p.P201_splice	p.P145_splice			P50613	CDK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)	8	925	+		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	238			Protein kinase.		Q9BS60|Q9UE19	Splice_Site	SNP	ENST00000256443.3	37	c.435_splice	CCDS3999.1																																																																																				0.363	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216802.3	NM_001799	Silent	4	77	0	0	0	1	0	4	77					A	68565120	G	A	68565120	5	1	494	1	0	0	0	0	0	0	1	0	3149	1130	39	2	748	2	CDK7	5	68565120	Splice_Site	SNP	G	TCGA-ZG-A9M4-01A-11D-A41K-08	18490657	68565120	112350140	13	32779											
OR2J2	26707	broad.mit.edu	37	chr6	29141930	29141930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacccctttgtggacatcGcctagtggatcacttcttct	6	14	9	12	1	3	0	1	0	2	0	4	2	3	2	3	3	1	1	3	3	2	5			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr6:29141930G>A	ENST00000377167.2	+	1	620	c.518G>A	c.(517-519)cGc>cAc	p.R173H		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TGTGGACATCGCCTAGTGGAT	0.468																																						ENST00000377167.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(517-519)cGc>cAc		olfactory receptor, family 2, subfamily J, member 2							194	175	181					6																	29141930		1946	4142	6088	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141930G>A		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"GPCR / Class A : Olfactory receptors"	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.518G>A	6.37:g.29141930G>A	ENSP00000366372:p.Arg173His						p.R173H	NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN			1	620	+			173					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.518G>A	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	G	2.148	-0.395248	0.04899	.	.	ENSG00000204700	ENST00000377167	T	0.00107	8.72	2.3	-2.05	0.07321	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.16307	0.4	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.01635	-1.1307	9	0.21540	T	0.41	.	8.1128	0.30924	0.7892:0.0:0.2108:0.0	.	173	O76002	OR2J2_HUMAN	H	173	ENSP00000366372:R173H	ENSP00000366372:R173H	R	+	2	0	OR2J2	29249909	0.000000	0.05858	0.981000	0.43875	0.440000	0.31957	0.289000	0.18957	-0.483000	0.06772	0.205000	0.17691	CGC		0.468	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			37	121	0	0	0	1	0	37	121					A	29141930	G	A	29141930	3	1	494	1	0	0	0	0	1	0	0	0	11003	1087	38	1	520	1	OR2J2	6	29141930	Missense_Mutation	SNP	G	TCGA-ZG-A9M4-01A-11D-A41K-08		29141930	141973137	14	32780											
ZBTB9	221504	broad.mit.edu	37	chr6	33423655	33423655	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccatgactgctactcccCgaaagcttccagagggtgag	9	8	11	13	1	0	3	0	2	0	1	2	4	2	3	4	1	4	2	4	1	2	2			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr6:33423655C>T	ENST00000395064.2	+	2	1046	c.778C>T	c.(778-780)Cga>Tga	p.R260*		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	260	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TGCTACTCCCCGAAAGCTTCC	0.577																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(778-780)Cga>Tga		zinc finger and BTB domain containing 9							64	67	66					6																	33423655		2203	4300	6503	SO:0001587	stop_gained	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423655C>T	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.778C>T	6.37:g.33423655C>T	ENSP00000378503:p.Arg260*						p.R260*	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	1046	+			260			Pro-rich.		A2AB19	Nonsense_Mutation	SNP	ENST00000395064.2	37	c.778C>T	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.850927	0.51270	.	.	ENSG00000213588	ENST00000395064	.	.	.	5.28	-1.68	0.08212	.	2.093230	0.03826	U	0.268317	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	5.3805	0.16189	0.1332:0.4168:0.0:0.45	.	.	.	.	X	260	.	ENSP00000378503:R260X	R	+	1	2	ZBTB9	33531633	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	-0.125000	0.10579	-0.563000	0.06078	-0.136000	0.14681	CGA		0.577	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		9	43	0	0	0	1	0	9	43					T	33423655	C	T	33423655	4	4	494	1	0	0	0	0	0	1	0	0	17555	644	23	2	780	2	ZBTB9	6	33423655	Nonsense_Mutation	SNP	C	TCGA-ZG-A9M4-01A-11D-A41K-08	4281725	33423655	137691412	15	32781											
MDN1	23195	broad.mit.edu	37	chr6	90494821	90494821	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgactgtttagcggtcgataCcaatttcctccacagctcaa	10	12	7	12	2	1	1	1	1	0	0	4	2	3	1	3	1	3	2	3	1	4	4			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr6:90494821C>G	ENST00000369393.3	-	9	1474	c.1359G>C	c.(1357-1359)tgG>tgC	p.W453C	MDN1_ENST00000428876.1_Missense_Mutation_p.W453C			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	453					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			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)		GCGGTCGATACCAATTTCCTC	0.383																																						ENST00000369393.3																			0				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						c.(1357-1359)tgG>tgC		MDN1, midasin homolog (yeast)							218	209	212					6																	90494821		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90494821C>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1359G>C	6.37:g.90494821C>G	ENSP00000358400:p.Trp453Cys					MDN1_ENST00000428876.1_Missense_Mutation_p.W453C	p.W453C			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	9	1474	-		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)	453					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.1359G>C	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263142	0.59431	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.39229	1.09;1.09	5.57	5.57	0.84162	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.50531	0.1621	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;0.979	D;D	0.75484	0.986;0.984	T	0.38243	-0.9670	10	0.38643	T	0.18	.	19.5322	0.95234	0.0:1.0:0.0:0.0	.	453;453	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	C	453	ENSP00000358400:W453C;ENSP00000413970:W453C	ENSP00000358400:W453C	W	-	3	0	MDN1	90551542	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.932000	0.75869	2.622000	0.88805	0.591000	0.81541	TGG		0.383	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			37	93	0	0	0	1	0	37	93					G	90494821	C	G	90494821	3	3	494	1	0	0	0	0	1	0	0	0	9415	508	18	5	15807	5	MDN1	6	90494821	Missense_Mutation	SNP	C	TCGA-ZG-A9M4-01A-11D-A41K-08	57071166	90494821	80620246	16	32782											
KIAA1244	57221	broad.mit.edu	37	chr6	138601154	138601154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaggacttcatgaagcagGtgcagaccagcggcgtgctg	11	6	15	9	2	1	3	1	1	0	2	1	4	1	4	1	3	4	3	1	3	2	1			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr6:138601154G>A	ENST00000251691.4	+	14	2480	c.2314G>A	c.(2314-2316)Gtg>Atg	p.V772M		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CATGAAGCAGGTGCAGACCAG	0.542																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(2314-2316)Gtg>Atg		KIAA1244							128	111	117					6																	138601154		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138601154G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2314G>A	6.37:g.138601154G>A	ENSP00000251691:p.Val772Met						p.V772M	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	14	2480	+	Breast(32;0.135)		772			SEC7.			Missense_Mutation	SNP	ENST00000251691.4	37	c.2314G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	13.96	2.394007	0.42410	.	.	ENSG00000112379	ENST00000251691	T	0.44482	0.92	5.86	1.98	0.26296	SEC7-like (1);	0.493587	0.23157	N	0.051289	T	0.18087	0.0434	L	0.59436	1.845	0.44048	D	0.996781	B	0.12013	0.005	B	0.12837	0.008	T	0.07635	-1.0762	10	0.59425	D	0.04	-26.6235	4.0092	0.09615	0.1293:0.2351:0.5141:0.1214	.	772	Q5TH69	BIG3_HUMAN	M	772	ENSP00000251691:V772M	ENSP00000251691:V772M	V	+	1	0	KIAA1244	138642847	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	1.554000	0.36266	0.364000	0.24374	-0.169000	0.13324	GTG		0.542	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		3	37	0	0	0	1	0	3	37					A	138601154	G	A	138601154	3	1	494	1	0	0	0	0	1	0	0	0	8217	1261	44	3	2368	3	KIAA1244	6	138601154	Missense_Mutation	SNP	G	TCGA-ZG-A9M4-01A-11D-A41K-08	48106333	138601154	32513913	17	32783											
ARID1B	57492	broad.mit.edu	37	chr6	157454311	157454311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaactcaagtgggacttacGgtccacagatgagccagtat	12	9	11	9	1	1	2	1	1	0	1	2	3	2	3	2	2	3	2	2	2	4	3	rs150249745		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr6:157454311G>A	ENST00000350026.5	+	7	2483	c.2482G>A	c.(2482-2484)Ggt>Agt	p.G828S	ARID1B_ENST00000275248.4_Missense_Mutation_p.G770S|ARID1B_ENST00000367148.1_Missense_Mutation_p.G828S|ARID1B_ENST00000346085.5_Missense_Mutation_p.G841S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	828					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			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)		TGGGACTTACGGTCCACAGAT	0.473																																						ENST00000346085.5																			0				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						c.(2521-2523)Ggt>Agt		AT rich interactive domain 1B (SWI1-like)		G	SER/GLY,SER/GLY	0,4406		0,0,2203	70	61	64		2482,2521	5.2	1	6	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ARID1B	NM_017519.2,NM_020732.3	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	828/2237,841/2250	157454311	1,13005	2203	4300	6503	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157454311G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2482G>A	6.37:g.157454311G>A	ENSP00000055163:p.Gly828Ser					ARID1B_ENST00000275248.4_Missense_Mutation_p.G770S|ARID1B_ENST00000367148.1_Missense_Mutation_p.G828S|ARID1B_ENST00000350026.5_Missense_Mutation_p.G828S	p.G841S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	8	2522	+		Breast(66;0.000162)|Ovarian(120;0.0265)	828					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.2521G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	32	5.182273	0.94885	0.0	1.16E-4	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000535255;ENST00000414678;ENST00000319584	T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85	6.06	5.19	0.71726	.	0.170568	0.52532	D	0.000079	T	0.35595	0.0937	L	0.52011	1.625	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.998;0.999;0.999	D;P;P;P	0.91635	0.999;0.739;0.866;0.866	T	0.20638	-1.0269	10	0.59425	D	0.04	.	15.2413	0.73471	0.0671:0.0:0.9329:0.0	.	212;828;841;770	F5H333;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	S	841;828;828;770;245;212;297;250	ENSP00000344546:G841S;ENSP00000055163:G828S;ENSP00000356116:G828S;ENSP00000275248:G770S;ENSP00000412835:G297S;ENSP00000313006:G250S	ENSP00000275248:G770S	G	+	1	0	ARID1B	157496003	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.621000	0.83083	1.555000	0.49500	0.655000	0.94253	GGT		0.473	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		15	15	0	0	0	1	0	15	15					A	157454311	G	A	157454311	3	1	494	1	0	0	0	0	1	0	0	0	914	1116	39	2	2551	2	ARID1B	6	157454311	Missense_Mutation	SNP	G	TCGA-ZG-A9M4-01A-11D-A41K-08	18853157	157454311	13660756	18	32784											
FLNC	2318	broad.mit.edu	37	chr7	128494226	128494226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttggggacttcctgggccGggagcgcctgggatccttcg	3	10	17	11	3	0	0	0	0	0	0	3	3	2	3	4	5	1	1	4	5	0	3			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr7:128494226G>A	ENST00000325888.8	+	40	6944	c.6683G>A	c.(6682-6684)cGg>cAg	p.R2228Q	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R2195Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2228	Intradomain insert; mediate targeting to Z lines.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			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						TTCCTGGGCCGGGAGCGCCTG	0.716																																						ENST00000325888.8																			0				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						c.(6682-6684)cGg>cAg		filamin C, gamma							20	27	25					7																	128494226		1968	4135	6103	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128494226G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6683G>A	7.37:g.128494226G>A	ENSP00000327145:p.Arg2228Gln					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R2195Q	p.R2228Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			40	6944	+			2228			Intradomain insert.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.6683G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594690	0.86953	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85013	-1.93;-1.93	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	D	0.87497	0.6192	N	0.22421	0.69	0.53688	D	0.999973	D;P	0.71674	0.998;0.888	D;B	0.72982	0.979;0.392	D	0.88864	0.3328	10	0.66056	D	0.02	.	17.1975	0.86897	0.0:0.0:1.0:0.0	.	2195;2228	Q14315-2;Q14315	.;FLNC_HUMAN	Q	2228;2195	ENSP00000327145:R2228Q;ENSP00000344002:R2195Q	ENSP00000327145:R2228Q	R	+	2	0	FLNC	128281462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.525000	0.81892	2.655000	0.90218	0.655000	0.94253	CGG		0.716	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			7	21	0	0	0	1	0	7	21					A	128494226	G	A	128494226	3	1	494	1	0	0	0	0	1	0	0	0	5935	1116	39	2	6841	2	FLNC	7	128494226	Missense_Mutation	SNP	G	TCGA-ZG-A9M4-01A-11D-A41K-08		128494226	30644437	19	32785											
LZTS1	11178	broad.mit.edu	37	chr8	20110316	20110316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgggtctcctccagcgCggggccgaagctggtcttct	4	9	13	15	3	3	0	0	0	3	0	5	1	4	0	4	4	2	1	4	4	1	1	rs371854944		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr8:20110316C>T	ENST00000381569.1	-	3	1483	c.1126G>A	c.(1126-1128)Gcg>Acg	p.A376T	LZTS1_ENST00000265801.6_Missense_Mutation_p.A376T|LZTS1_ENST00000522290.1_Missense_Mutation_p.A376T			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	376					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCCTCCAGCGCGGGGCCGAAG	0.662																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1126-1128)Gcg>Acg		leucine zipper, putative tumor suppressor 1		C	THR/ALA	2,4404		0,2,2201	32	34	33		1126	4.7	0.1	8		33	0,8600		0,0,4300	no	missense	LZTS1	NM_021020.2	58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	376/597	20110316	2,13004	2203	4300	6503	SO:0001583	missense	11178				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	g.chr8:20110316C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1126G>A	8.37:g.20110316C>T	ENSP00000370981:p.Ala376Thr					LZTS1_ENST00000522290.1_Missense_Mutation_p.A376T|LZTS1_ENST00000265801.6_Missense_Mutation_p.A376T	p.A376T			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	1483	-			376					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.1126G>A	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	C	0.752	-0.772577	0.02951	4.54E-4	0.0	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.21031	2.34;2.34;2.03	5.6	4.73	0.59995	.	0.155847	0.64402	N	0.000018	T	0.15825	0.0381	L	0.36672	1.1	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.002	T	0.15122	-1.0448	10	0.35671	T	0.21	-17.677	8.3432	0.32256	0.1539:0.7674:0.0:0.0788	.	376;376	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	T	376	ENSP00000370981:A376T;ENSP00000265801:A376T;ENSP00000429263:A376T	ENSP00000265801:A376T	A	-	1	0	LZTS1	20154596	0.096000	0.21769	0.136000	0.22124	0.871000	0.50021	0.649000	0.24843	1.378000	0.46305	0.561000	0.74099	GCG		0.662	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		8	26	0	0	0	1	0	8	26					T	20110316	C	T	20110316	3	4	494	1	0	0	0	0	1	0	0	0	9138	768	27	1	672	1	LZTS1	8	20110316	Missense_Mutation	SNP	C	TCGA-ZG-A9M4-01A-11D-A41K-08		20110316	126253706	20	32786											
FAM164A	51101	broad.mit.edu	37	chr8	79598725	79598725	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaccaccaaagaaaccatcTaattggagaaggaaacatga	20	5	8	8	0	1	3	0	1	1	2	1	6	1	4	3	2	3	0	3	2	6	2			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr8:79598725T>C	ENST00000263849.4	+	4	336	c.234T>C	c.(232-234)tcT>tcC	p.S78S	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	78							metal ion binding (GO:0046872)										AGAAACCATCTAATTGGAGAA	0.338																																						ENST00000263849.4																			0											c.(232-234)tcT>tcC		zinc finger, C2HC-type containing 1A							54	48	50					8																	79598725		2202	4300	6502	SO:0001819	synonymous_variant	51101							g.chr8:79598725T>C		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"Zinc fingers, C2HC-type containing"	24277	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 70", "family with sequence similarity 164, member A"	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.234T>C	8.37:g.79598725T>C						ZC2HC1A_ENST00000521176.1_3'UTR	p.S78S	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN			4	336	+			78					Q9Y372	Silent	SNP	ENST00000263849.4	37	c.234T>C	CCDS6223.1																																																																																				0.338	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		4	7	0	0	0	1	0	4	7					C	79598725	T	C	79598725	2	2	494	1	0	0	0	0	0	0	0	1	5478	1509	53	4		4	FAM164A	8	79598725	Silent	SNP	T	TCGA-ZG-A9M4-01A-11D-A41K-08	59488409	79598725	66765297	21	32787											
FBXL6	26233	broad.mit.edu	37	chr8	145579637	145579637	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggatgctgacctgacagtgCttggtgtgacccgggtgccc	5	9	16	11	1	0	3	0	3	0	0	0	4	0	4	3	3	3	2	3	3	0	1			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr8:145579637C>A	ENST00000331890.5	-	8	1527	c.1463G>T	c.(1462-1464)aGc>aTc	p.S488I	SLC52A2_ENST00000527078.1_5'Flank|FBXL6_ENST00000526524.1_Intron|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|FBXL6_ENST00000455319.2_Missense_Mutation_p.S482I|SLC52A2_ENST00000530047.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	488					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			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)			CCTGACAGTGCTTGGTGTGAC	0.637																																						ENST00000331890.5																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(1462-1464)aGc>aTc		F-box and leucine-rich repeat protein 6							73	70	71					8																	145579637		2203	4300	6503	SO:0001583	missense	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145579637C>A	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"F-boxes / Leucine-rich repeats"	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1463G>T	8.37:g.145579637C>A	ENSP00000330098:p.Ser488Ile					FBXL6_ENST00000455319.2_Missense_Mutation_p.S482I|FBXL6_ENST00000526524.1_Intron	p.S488I	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	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)		8	1527	-	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)		488					Q53G43|Q9H5W9|Q9UKC7	Missense_Mutation	SNP	ENST00000331890.5	37	c.1463G>T	CCDS6422.1	.	.	.	.	.	.	.	.	.	.	C	8.712	0.912383	0.17907	.	.	ENSG00000182325	ENST00000455319;ENST00000331890	T;T	0.78364	-1.17;-1.17	5.06	3.21	0.36854	.	0.683468	0.13626	N	0.374080	T	0.70859	0.3272	L	0.45581	1.43	0.09310	N	1	P;P	0.39624	0.553;0.681	B;B	0.41988	0.205;0.372	T	0.61912	-0.6965	10	0.49607	T	0.09	-29.4124	5.8065	0.18442	0.0:0.6256:0.2607:0.1137	.	488;482	Q8N531;Q8N531-2	FBXL6_HUMAN;.	I	482;488	ENSP00000403873:S482I;ENSP00000330098:S488I	ENSP00000330098:S488I	S	-	2	0	FBXL6	145550445	0.033000	0.19621	0.150000	0.22450	0.288000	0.27193	0.110000	0.15437	1.130000	0.42092	0.563000	0.77884	AGC		0.637	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		15	29	1	0	4.14922e-12	1	4.58143e-12	15	29					A	145579637	C	A	145579637	3	1	494	1	0	0	0	0	1	0	0	0	5723	797	28	5	164	5	FBXL6	8	145579637	Missense_Mutation	SNP	C	TCGA-ZG-A9M4-01A-11D-A41K-08	65980912	145579637	784385	22	32788											
DOCK8	81704	broad.mit.edu	37	chr9	449902	449902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcttcagatggtgctgcaagGctctgtgggagctactgtaa	8	11	14	8	0	2	1	1	0	1	1	2	2	2	2	0	3	4	6	0	3	3	3			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr9:449902G>A	ENST00000453981.1	+	45	6048	c.5936G>A	c.(5935-5937)gGc>gAc	p.G1979D	DOCK8_ENST00000469391.1_Missense_Mutation_p.G1879D|DOCK8_ENST00000382329.1_Missense_Mutation_p.G1446D|DOCK8_ENST00000432829.2_Missense_Mutation_p.G1911D			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1979	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			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)		GTGCTGCAAGGCTCTGTGGGA	0.473																																						ENST00000432829.2																			0				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						c.(5731-5733)gGc>gAc		dedicator of cytokinesis 8							90	86	87					9																	449902		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:449902G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5936G>A	9.37:g.449902G>A	ENSP00000408464:p.Gly1979Asp					DOCK8_ENST00000382329.1_Missense_Mutation_p.G1446D|DOCK8_ENST00000469391.1_Missense_Mutation_p.G1879D|DOCK8_ENST00000453981.1_Missense_Mutation_p.G1979D	p.G1911D	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	45	6048	+		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)	1979					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.5732G>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	34	5.300997	0.95601	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.74412	0.3713	M	0.92784	3.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80051	-0.1544	10	0.87932	D	0	.	19.6556	0.95837	0.0:0.0:1.0:0.0	.	1879;1446;1979	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	D	1979;1947;1911;1879;1446	ENSP00000408464:G1979D;ENSP00000394888:G1911D;ENSP00000419438:G1879D;ENSP00000371766:G1446D	ENSP00000287364:G1947D	G	+	2	0	DOCK8	439902	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.446000	0.97590	2.882000	0.98803	0.655000	0.94253	GGC		0.473	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		36	25	0	0	0	1	0	36	25					A	449902	G	A	449902	3	1	494	1	0	0	0	0	1	0	0	0	4693	1203	42	3	6114	3	DOCK8	9	449902	Missense_Mutation	SNP	G	TCGA-ZG-A9M4-01A-11D-A41K-08		449902	140763529	23	32789											
PAEP	5047	broad.mit.edu	37	chr9	138454224	138454224	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccctctgagggtccacAtcacctcactgttgcccacc	7	8	8	18	0	3	1	2	1	1	0	4	1	4	1	6	2	1	1	6	2	0	1			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr9:138454224A>C	ENST00000479141.1	+	2	225	c.181A>C	c.(181-183)Atc>Ctc	p.I61L	PAEP_ENST00000277508.5_Missense_Mutation_p.I61L|PAEP_ENST00000371766.2_Missense_Mutation_p.I61L	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	61					multicellular organismal development (GO:0007275)|transport (GO:0006810)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GAGGGTCCACATCACCTCACT	0.617																																						ENST00000479141.1																			0				cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						c.(181-183)Atc>Ctc		progestagen-associated endometrial protein							116	95	102					9																	138454224		2203	4300	6503	SO:0001583	missense	5047				multicellular organismal development	extracellular region	binding|transporter activity	g.chr9:138454224A>C		CCDS35173.1	9q34	2011-11-15	2008-07-31		ENSG00000122133	ENSG00000122133		"Lipocalins"	8573	protein-coding gene	gene with protein product	"glycodelin-A", "glycodelin-S", "glycodelin-F", "progesterone-associated endometrial protein", "glycodelin", "PP14 protein (placental protein 14)", "pregnancy-associated endometrial alpha-2-globulin", "alpha uterine protein"	173310				3320533, 2016092	Standard	XM_005263405		Approved	PEP, PP14, GdA, GdS, GdF, PAEG, GD, MGC138509, MGC142288	uc004cgd.1	P09466	OTTHUMG00000020914	ENST00000479141.1:c.181A>C	9.37:g.138454224A>C	ENSP00000417898:p.Ile61Leu					PAEP_ENST00000277508.5_Missense_Mutation_p.I61L|PAEP_ENST00000371766.2_Missense_Mutation_p.I61L	p.I61L	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	2	225	+			61					Q5T6T1|Q9UG92	Missense_Mutation	SNP	ENST00000479141.1	37	c.181A>C	CCDS35173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	3.046|3.046	-0.196359|-0.196359	0.06259|0.06259	.|.	.|.	ENSG00000122133|ENSG00000122133	ENST00000433563;ENST00000454923|ENST00000479141;ENST00000371767;ENST00000371766;ENST00000277508;ENST00000418284	T;T|T;T;T;T	0.07114|0.08634	3.22;3.22|3.07;3.07;3.07;3.07	1.15|1.15	-2.3|-2.3	0.06785|0.06785	.|Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.|.	.|.	.|.	.|.	T|T	0.09598|0.09598	0.0236|0.0236	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	.|B;P;B;B;P	.|0.41008	.|0.016;0.456;0.02;0.058;0.735	.|B;B;B;B;B	.|0.42495	.|0.004;0.301;0.038;0.038;0.389	T|T	0.08046|0.08046	-1.0741|-1.0741	7|9	0.87932|0.35671	D|T	0|0.21	.|.	6.186|6.186	0.20498|0.20498	0.6592:0.0:0.3408:0.0|0.6592:0.0:0.3408:0.0	.|.	.|39;43;61;39;61	.|P09466-2;B2R4F9;A6XNE0;E9PH67;P09466	.|.;.;.;.;PAEP_HUMAN	P|L	24;6|61;39;61;61;13	ENSP00000394216:H24P;ENSP00000404033:H6P|ENSP00000417898:I61L;ENSP00000360831:I61L;ENSP00000277508:I61L;ENSP00000401933:I13L	ENSP00000394216:H24P|ENSP00000277508:I61L	H|I	+|+	2|1	0|0	PAEP|PAEP	137594045|137594045	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-4.265000|-4.265000	0.00263|0.00263	-1.781000|-1.781000	0.01277|0.01277	-1.957000|-1.957000	0.00481|0.00481	CAT|ATC		0.617	PAEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055010.1	NM_001018049		13	32	0	0	0	1	0	13	32					C	138454224	A	C	138454224	3	2	494	1	0	0	0	0	1	0	0	0	11382	217	8	5	187	5	PAEP	9	138454224	Missense_Mutation	SNP	A	TCGA-ZG-A9M4-01A-11D-A41K-08	138004322	138454224	2759207	24	32790											
PA2G4	5036	broad.mit.edu	37	chr12	56503666	56503666	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcacaccagttgaagcaGcatgtcatcgatggagaaaa	14	8	10	9	1	2	2	2	1	0	1	3	4	2	2	1	1	2	3	1	1	3	1			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr12:56503666G>A	ENST00000303305.6	+	7	995	c.576G>A	c.(574-576)caG>caA	p.Q192Q	PA2G4_ENST00000552766.1_Silent_p.Q192Q|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	192					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			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)			AGTTGAAGCAGCATGTCATCG	0.443																																						ENST00000303305.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(574-576)caG>caA		proliferation-associated 2G4, 38kDa							126	117	120					12																	56503666		2203	4300	6503	SO:0001819	synonymous_variant	5036				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	g.chr12:56503666G>A	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"proliferation-associated 2G4, 38kD"			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.576G>A	12.37:g.56503666G>A						RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Silent_p.Q192Q	p.Q192Q	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		7	995	+			192					O43846|Q9UM59	Silent	SNP	ENST00000303305.6	37	c.576G>A	CCDS8902.1																																																																																				0.443	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		3	55	0	0	0	1	0	3	55					A	56503666	G	A	56503666	2	1	494	1	0	0	0	0	0	0	0	1	11361	962	34	3		3	PA2G4	12	56503666	Silent	SNP	G	TCGA-ZG-A9M4-01A-11D-A41K-08		56503666	77348229	25	32791											
TFDP1	7027	broad.mit.edu	37	chr13	114288328	114288328	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctgcccaccaactcggctCaggaatgtcagaacttagag	11	8	10	12	1	3	2	2	0	1	2	4	3	3	3	2	2	3	1	2	2	4	1			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr13:114288328C>T	ENST00000375370.5	+	7	810	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	TFDP1_ENST00000544902.1_Nonsense_Mutation_p.Q105*|TFDP1_ENST00000538138.1_Nonsense_Mutation_p.Q105*	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	200					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			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)			CAACTCGGCTCAGGAATGTCA	0.502										TSP Lung(29;0.18)																												ENST00000375370.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(598-600)Cag>Tag		transcription factor Dp-1							110	94	100					13																	114288328		2203	4300	6503	SO:0001587	stop_gained	7027				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	g.chr13:114288328C>T	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.598C>T	13.37:g.114288328C>T	ENSP00000364519:p.Gln200*	TSP Lung(29;0.18)				TFDP1_ENST00000544902.1_Nonsense_Mutation_p.Q105*|TFDP1_ENST00000538138.1_Nonsense_Mutation_p.Q105*	p.Q200*	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		7	810	+	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)	200					B4DLQ9|Q5JSB4|Q8IZL5	Nonsense_Mutation	SNP	ENST00000375370.5	37	c.598C>T	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395881	0.96009	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902;ENST00000408980	.	.	.	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.7831	0.85567	0.0:1.0:0.0:0.0	.	.	.	.	X	105;200;105;200	.	ENSP00000364519:Q200X	Q	+	1	0	TFDP1	113336329	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.340000	0.79292	1.958000	0.56883	0.491000	0.48974	CAG		0.502	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		31	41	0	0	0	1	0	31	41					T	114288328	C	T	114288328	4	4	494	1	0	0	0	0	0	1	0	0	15794	827	29	3	620	3	TFDP1	13	114288328	Nonsense_Mutation	SNP	C	TCGA-ZG-A9M4-01A-11D-A41K-08		114288328	881550	26	32792											
NIN	51199	broad.mit.edu	37	chr14	51224910	51224910	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctcacgctccctcagttcCcttttgtgactgctcttcag	4	15	6	16	1	4	1	3	1	1	0	7	1	7	1	3	0	1	3	3	0	0	4			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr14:51224910C>T	ENST00000382041.3	-	18	3028	c.2838G>A	c.(2836-2838)agG>agA	p.R946R	NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Silent_p.R946R|NIN_ENST00000530997.2_Silent_p.R946R|NIN_ENST00000245441.5_Silent_p.R946R|NIN_ENST00000453196.1_Silent_p.R946R|NIN_ENST00000389868.3_Intron	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	946					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			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)					CCCTCAGTTCCCTTTTGTGAC	0.537			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				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						c.(2836-2838)agG>agA		ninein (GSK3B interacting protein)							128	129	129					14																	51224910		2203	4300	6503	SO:0001819	synonymous_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51224910C>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.2838G>A	14.37:g.51224910C>T						NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Silent_p.R946R|NIN_ENST00000382043.4_Intron|NIN_ENST00000382041.3_Silent_p.R946R|NIN_ENST00000530997.2_Silent_p.R946R|NIN_ENST00000453196.1_Silent_p.R946R	p.R946R	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			18	3028	-	all_epithelial(31;0.00244)|Breast(41;0.127)		946					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	c.2838G>A	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.894019	0.00522	.	.	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.61	1.75	0.24633	.	.	.	.	.	T	0.25044	0.0608	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	T	0.21314	-1.0249	4	.	.	.	-0.5126	4.6952	0.12800	0.1328:0.2915:0.0:0.5757	.	.	.	.	R	437	.	.	G	-	1	0	NIN	50294660	0.001000	0.12720	0.005000	0.12908	0.001000	0.01503	-0.317000	0.08060	0.399000	0.25367	-0.285000	0.09966	GGA		0.537	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		46	63	0	0	0	1	0	46	63					T	51224910	C	T	51224910	2	4	494	1	0	0	0	0	0	0	0	1	10417	622	22	3		3	NIN	14	51224910	Silent	SNP	C	TCGA-ZG-A9M4-01A-11D-A41K-08		51224910	56124630	27	32793											
RIN3	79890	broad.mit.edu	37	chr14	93125791	93125791	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgcaaactcatctacgActccatggccctcggcaacc	10	7	7	17	2	2	0	1	0	1	0	4	2	3	0	4	2	4	2	4	2	3	1			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr14:93125791A>T	ENST00000216487.7	+	7	2471	c.2312A>T	c.(2311-2313)gAc>gTc	p.D771V	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	771	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CTCATCTACGACTCCATGGCC	0.567																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(2311-2313)gAc>gTc		Ras and Rab interactor 3							105	87	93					14																	93125791		2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93125791A>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.2312A>T	14.37:g.93125791A>T	ENSP00000216487:p.Asp771Val					RIN3_ENST00000418924.2_3'UTR	p.D771V	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			7	2471	+		all_cancers(154;0.0701)	771			VPS9.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.2312A>T	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.791483	0.70452	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.29397	1.57	5.84	5.84	0.93424	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	T	0.52108	0.1714	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	0.995;0.998;0.998;1.0	D;D;D;D	0.81914	0.941;0.985;0.977;0.995	T	0.53330	-0.8454	10	0.87932	D	0	-39.74	16.2045	0.82114	1.0:0.0:0.0:0.0	.	771;817;696;771	Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.;.;.;RIN3_HUMAN	V	771;695	ENSP00000216487:D771V	ENSP00000216487:D771V	D	+	2	0	RIN3	92195544	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.995000	0.70631	2.234000	0.73211	0.459000	0.35465	GAC		0.567	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			9	49	0	0	0	1	0	9	49					T	93125791	A	T	93125791	3	4	494	1	0	0	0	0	1	0	0	0	13373	275	10	5	2338	5	RIN3	14	93125791	Missense_Mutation	SNP	A	TCGA-ZG-A9M4-01A-11D-A41K-08	41900881	93125791	14223749	28	32794											
NDN	4692	broad.mit.edu	37	chr15	23932059	23932059	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtaccacatgagctcgtgCgccttctgcaccagctgcgc	7	8	10	16	4	1	1	0	1	1	0	2	1	1	1	3	0	6	4	3	0	1	2			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr15:23932059C>T	ENST00000331837.4	-	1	391	c.306G>A	c.(304-306)gcG>gcA	p.A102A		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	102	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TGAGCTCGTGCGCCTTCTGCA	0.657									Prader-Willi syndrome																													ENST00000331837.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(304-306)gcG>gcA		necdin, melanoma antigen (MAGE) family member							58	54	55					15																	23932059		2203	4300	6503	SO:0001819	synonymous_variant	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23932059C>T	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.306G>A	15.37:g.23932059C>T							p.A102A	NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN		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)	1	391	-		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)	102			MAGE.		B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.306G>A	CCDS10014.1																																																																																				0.657	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		19	96	0	0	0	1	0	19	96					T	23932059	C	T	23932059	2	4	494	1	0	0	0	0	0	0	0	1	10247	755	27	1		1	NDN	15	23932059	Silent	SNP	C	TCGA-ZG-A9M4-01A-11D-A41K-08		23932059	78599333	29	32795											
TLN2	83660	broad.mit.edu	37	chr15	62993383	62993383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagttgatgctatcacggccGgaacggcttcagttgttaac	10	11	11	9	3	2	1	2	1	0	0	2	2	2	2	1	3	3	5	1	3	4	5			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr15:62993383G>A	ENST00000561311.1	+	16	1896	c.1666G>A	c.(1666-1668)Gga>Aga	p.G556R	TLN2_ENST00000306829.6_Missense_Mutation_p.G556R			Q9Y4G6	TLN2_HUMAN	talin 2	556					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TATCACGGCCGGAACGGCTTC	0.438																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(1666-1668)Gga>Aga		talin 2							88	74	79					15																	62993383		2203	4300	6503	SO:0001583	missense	83660				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	g.chr15:62993383G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1666G>A	15.37:g.62993383G>A	ENSP00000453508:p.Gly556Arg					TLN2_ENST00000306829.6_Missense_Mutation_p.G556R	p.G556R			Q9Y4G6	TLN2_HUMAN			16	1896	+			556					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.1666G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511313	0.85389	.	.	ENSG00000171914	ENST00000306829	T	0.69175	-0.38	5.65	5.65	0.86999	Talin, central (3);	0.000000	0.85682	D	0.000000	T	0.81889	0.4918	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82456	-0.0448	10	0.87932	D	0	-21.0459	20.0965	0.97849	0.0:0.0:1.0:0.0	.	556	Q9Y4G6	TLN2_HUMAN	R	556	ENSP00000303476:G556R	ENSP00000303476:G556R	G	+	1	0	TLN2	60780675	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	8.009000	0.88606	2.824000	0.97209	0.655000	0.94253	GGA		0.438	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			3	58	0	0	0	1	0	3	58					A	62993383	G	A	62993383	3	1	494	1	0	0	0	0	1	0	0	0	15945	1117	39	2	1720	2	TLN2	15	62993383	Missense_Mutation	SNP	G	TCGA-ZG-A9M4-01A-11D-A41K-08	39061324	62993383	39538009	30	32796											
RPL3L	6123	broad.mit.edu	37	chr16	1996981	1996981	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgatagcccttctgcccGgcccgagcaatggagcagcc	7	7	13	14	2	1	1	0	1	1	0	1	3	1	2	4	3	5	2	4	3	2	2	rs148725709		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr16:1996981G>A	ENST00000268661.7	-	6	901	c.807C>T	c.(805-807)gcC>gcT	p.A269A		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	269					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CCTTCTGCCCGGCCCGAGCAA	0.662																																						ENST00000268661.7																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(805-807)gcC>gcT		ribosomal protein L3-like		G		1,4397	2.1+/-5.4	0,1,2198	52	53	52		807	-1.6	1	16	dbSNP_134	52	0,8600		0,0,4300	no	coding-synonymous	RPL3L	NM_005061.2		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		269/408	1996981	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:1996981G>A	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"L ribosomal proteins"	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.807C>T	16.37:g.1996981G>A							p.A269A	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN			6	901	-			269						Silent	SNP	ENST00000268661.7	37	c.807C>T	CCDS10450.1																																																																																				0.662	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		28	78	0	0	0	1	0	28	78					A	1996981	G	A	1996981	2	1	494	1	0	0	0	0	0	0	0	1	13594	1103	39	2		2	RPL3L	16	1996981	Silent	SNP	G	TCGA-ZG-A9M4-01A-11D-A41K-08		1996981	88357772	31	32797											
PPL	5493	broad.mit.edu	37	chr16	4960866	4960867	+	Frame_Shift_Del	DEL	CT	CT	-																															ctcacactctgcatcttggcCtctgtgtccacgatgttctt																								rs200460600		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr16:4960866_4960867delCT	ENST00000345988.2	-	2	235_236	c.146_147delAG	c.(145-147)gagfs	p.E49fs	PPL_ENST00000590782.2_Frame_Shift_Del_p.E49fs	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	49					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			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						GCATCTTGGCCTCTGTGTCCAC	0.589																																						ENST00000345988.2																			0				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						c.(145-147)gfs		periplakin																																				SO:0001589	frameshift_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4960866_4960867delCT	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.146_147delAG	16.37:g.4960868_4960869delCT	ENSP00000340510:p.Glu49fs					PPL_ENST00000590782.2_Frame_Shift_Del_p.E49fs	p.E49fs	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			2	235_236	-			49					O60314|O60454|Q14C98	Frame_Shift_Del	DEL	ENST00000345988.2	37	c.146_147delAG	CCDS10526.1																																																																																				0.589	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		13	95						13	95	---	---	---	---	-	4960867	CT	-	4960866	7	5	494	1	0	1	0	1	0	0	0	0	12334	680	24	0	5207	0	PPL	16	4960866	Frame_Shift_Del	DEL	CT	TCGA-ZG-A9M4-01A-11D-A41K-08	2963885	4960866	85393887	32	32798											
FAM86A	196483	broad.mit.edu	37	chr16	5135731	5135731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccatctgatcccggcccGgcctggaaacagagcacatg	9	7	10	15	2	1	2	0	1	1	1	3	3	3	3	4	3	2	1	4	3	1	1			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr16:5135731G>A	ENST00000427587.4	-	8	963	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	FAM86A_ENST00000587133.1_Missense_Mutation_p.R238W|ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000458008.4_Missense_Mutation_p.R265W	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	299						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						ATCCCGGCCCGGCCTGGAAAC	0.567																																						ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(895-897)Cgg>Tgg		family with sequence similarity 86, member A							101	94	96					16																	5135731		2197	4300	6497	SO:0001583	missense	196483							g.chr16:5135731G>A	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.895C>T	16.37:g.5135731G>A	ENSP00000398502:p.Arg299Trp					ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000458008.4_Missense_Mutation_p.R265W|FAM86A_ENST00000587133.1_Missense_Mutation_p.R238W	p.R299W	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			8	963	-			299					D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	c.895C>T	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586119	0.28268	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.18338	2.22;2.22	4.36	-0.445	0.12242	.	0.620445	0.10184	U	0.705453	T	0.12433	0.0302	.	.	.	0.09310	N	1	B;B	0.13594	0.008;0.002	B;B	0.04013	0.001;0.0	T	0.30534	-0.9975	9	0.62326	D	0.03	.	7.7408	0.28841	0.0:0.1431:0.3061:0.5508	.	265;299	Q96G04-2;Q96G04	.;FA86A_HUMAN	W	265;299	ENSP00000389710:R265W;ENSP00000398502:R299W	ENSP00000398502:R299W	R	-	1	2	FAM86A	5075732	0.218000	0.23608	0.031000	0.17742	0.220000	0.24768	0.961000	0.29267	0.162000	0.19483	0.484000	0.47621	CGG		0.567	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		11	88	0	0	0	1	0	11	88					A	5135731	G	A	5135731	3	1	494	1	0	0	0	0	1	0	0	0	5643	1115	39	2	101	2	FAM86A	16	5135731	Missense_Mutation	SNP	G	TCGA-ZG-A9M4-01A-11D-A41K-08	174865	5135731	85219022	33	32799											
ITFG1	81533	broad.mit.edu	37	chr16	47196504	47196504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatggtcaagaaaatttgCgctccgacctaaaccaagca	15	7	9	10	2	1	2	1	0	0	2	2	4	2	2	3	1	3	2	3	1	6	2			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr16:47196504C>T	ENST00000320640.6	-	15	1753	c.1525G>A	c.(1525-1527)Gca>Aca	p.A509T	RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_Missense_Mutation_p.A396T|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	509						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AGAAAATTTGCGCTCCGACCT	0.358																																						ENST00000320640.6																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1525-1527)Gca>Aca		integrin alpha FG-GAP repeat containing 1							101	103	102					16																	47196504		2202	4300	6502	SO:0001583	missense	81533					extracellular region|integral to membrane		g.chr16:47196504C>T	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"T cell immunomodulatory protein"	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1525G>A	16.37:g.47196504C>T	ENSP00000319918:p.Ala509Thr					ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Missense_Mutation_p.A396T|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA	p.A509T	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			15	1753	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	509					Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	c.1525G>A	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478197	0.96291	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	T;T	0.62498	0.02;0.02	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	L	0.45581	1.43	0.80722	D	1	P;D	0.89917	0.953;1.0	B;D	0.66084	0.292;0.941	T	0.62469	-0.6848	10	0.02654	T	1	-17.4271	19.4863	0.95030	0.0:1.0:0.0:0.0	.	396;509	F5GXC5;Q8TB96	.;TIP_HUMAN	T	509;169;254;396	ENSP00000319918:A509T;ENSP00000441062:A396T	ENSP00000319918:A509T	A	-	1	0	ITFG1	45754005	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.177000	0.65032	2.618000	0.88619	0.591000	0.81541	GCA		0.358	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		3	62	0	0	0	1	0	3	62					T	47196504	C	T	47196504	3	4	494	1	0	0	0	0	1	0	0	0	7869	768	27	1	329	1	ITFG1	16	47196504	Missense_Mutation	SNP	C	TCGA-ZG-A9M4-01A-11D-A41K-08	42060773	47196504	43158249	34	32800											
CHD9	80205	broad.mit.edu	37	chr16	53269119	53269119	+	Frame_Shift_Del	DEL	G	G	-																															ccgtcctccttctaatatttGgaagaaaatagatcaatcca																										TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr16:53269119delG	ENST00000398510.3	+	10	2621	c.2534delG	c.(2533-2535)tggfs	p.W845fs	CHD9_ENST00000447540.1_Frame_Shift_Del_p.W845fs|CHD9_ENST00000564845.1_Frame_Shift_Del_p.W845fs|CHD9_ENST00000566029.1_Frame_Shift_Del_p.W845fs			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	845					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCTAATATTTGGAAGAAAATA	0.358																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(2533-2535)tgfs		chromodomain helicase DNA binding protein 9							47	43	44					16																	53269119		1802	4035	5837	SO:0001589	frameshift_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53269119delG	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2534delG	16.37:g.53269119delG	ENSP00000381522:p.Trp845fs					CHD9_ENST00000447540.1_Frame_Shift_Del_p.W845fs|CHD9_ENST00000564845.1_Frame_Shift_Del_p.W845fs|CHD9_ENST00000398510.3_Frame_Shift_Del_p.W845fs	p.W845fs			Q3L8U1	CHD9_HUMAN			11	2743	+		all_cancers(37;0.0212)	845					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Frame_Shift_Del	DEL	ENST00000398510.3	37	c.2534delG																																																																																					0.358	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		2	4						2	4	---	---	---	---	-	53269119	G	-	53269119	7	5	494	1	0	1	0	1	0	0	0	0	3332	1357	47	0	2572	0	CHD9	16	53269119	Frame_Shift_Del	DEL	G	TCGA-ZG-A9M4-01A-11D-A41K-08	6072615	53269119	37085634	35	32801											
TP53	7157	broad.mit.edu	37	chr17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctccctgggggcagctCgtggtgaggctcccctttct	3	11	14	13	1	1	1	0	1	1	0	4	1	3	1	3	4	2	4	3	4	0	1	rs201744589		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr17:7577046C>A	ENST00000269305.4	-	8	1081	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E298*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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)	Acetylsalicylic acid(DB00945)	GGGGGCAGCTCGTGGTGAGGC	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	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)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		67	Substitution - Nonsense(49)|Whole gene deletion(8)|Deletion - In frame(3)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)	lung(21)|upper_aerodigestive_tract(13)|breast(6)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(4)|central_nervous_system(2)|oesophagus(2)|ovary(2)|pancreas(2)|liver(2)|large_intestine(1)|stomach(1)|salivary_gland(1)|skin(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	GRCh37	CM031387	TP53	M		c.(892-894)Gag>Tag	Other conserved DNA damage response genes	tumor protein p53							110	96	101					17																	7577046		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577046C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.892G>T	17.37:g.7577046C>A	ENSP00000269305:p.Glu298*	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)				TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*	p.E298*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1024	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	298		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.892G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603544	0.66445	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	-4.03	0.04021	.	0.553557	0.18174	N	0.149346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-12.8318	5.9489	0.19234	0.0:0.2155:0.4162:0.3682	.	.	.	.	X	298;298;298;298;298;287;166	.	ENSP00000269305:E298X	E	-	1	0	TP53	7517771	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.837000	0.04377	-0.441000	0.07201	-0.218000	0.12543	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	39	1	0	6.31663e-08	1	6.83227e-08	12	39					A	7577046	C	A	7577046	4	1	494	1	0	0	0	0	0	1	0	0	16378	893	31	5	394	5	TP53	17	7577046	Nonsense_Mutation	SNP	C	TCGA-ZG-A9M4-01A-11D-A41K-08		7577046	73618164	36	32802											
TP53	7157	broad.mit.edu	37	chr17	7578495	7578501	+	Frame_Shift_Del	DEL	CAGCTGC	CAGCTGC	-																															gggggtgtggaatcaacccaCagctgcacagggcaggtctt																								rs587782197		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr17:7578495_7578501delCAGCTGC	ENST00000269305.4	-	5	618_624	c.429_435delGCAGCTG	c.(427-435)gtgcagctgfs	p.VQL143fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.VQL143fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	143	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius; severely represses interaction with ZNF385A).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q144*(36)|p.L145P(17)|p.L145Q(17)|p.Q144L(8)|p.0?(8)|p.L145L(8)|p.L145R(7)|p.Q144H(4)|p.Q144R(4)|p.Q144P(4)|p.Q144fs*25(3)|p.Q144fs*26(3)|p.Q144K(2)|p.Q144del(2)|p.Q12*(2)|p.Q144Q(2)|p.Q51*(2)|p.V143V(2)|p.L145V(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.L145del(1)|p.W146fs*25(1)|p.A138_V143delAKTCPV(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.Q51fs*25(1)|p.V143_S149del(1)|p.Q144_G154del11(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.Q144fs*4(1)|p.L145M(1)|p.Q12fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AATCAACCCACAGCTGCACAGGGCAGG	0.599		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)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		148	Substitution - Missense(66)|Substitution - Nonsense(40)|Deletion - Frameshift(13)|Substitution - coding silent(12)|Deletion - In frame(8)|Whole gene deletion(8)|Insertion - Frameshift(1)	p.Q144*(36)|p.L145P(17)|p.L145Q(17)|p.Q144L(8)|p.0?(8)|p.L145L(8)|p.L145R(7)|p.Q144H(4)|p.Q144R(4)|p.Q144P(4)|p.Q144fs*25(3)|p.Q144fs*26(3)|p.Q144K(2)|p.Q144del(2)|p.Q12*(2)|p.Q144Q(2)|p.Q51*(2)|p.V143V(2)|p.L145V(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.L145del(1)|p.W146fs*25(1)|p.A138_V143delAKTCPV(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.Q51fs*25(1)|p.V143_S149del(1)|p.Q144_G154del11(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.Q144fs*4(1)|p.L145M(1)|p.Q12fs*25(1)	breast(20)|upper_aerodigestive_tract(16)|lung(16)|large_intestine(15)|ovary(15)|oesophagus(12)|haematopoietic_and_lymphoid_tissue(9)|stomach(6)|central_nervous_system(6)|endometrium(6)|urinary_tract(5)|prostate(5)|bone(5)|pancreas(4)|liver(3)|skin(3)|soft_tissue(1)|biliary_tract(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	GRCh37	CM023462	TP53	M		c.(427-435)gtfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578495_7578501delCAGCTGC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.429_435delGCAGCTG	17.37:g.7578495_7578501delCAGCTGC	ENSP00000269305:p.Val143fs	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)				TP53_ENST00000455263.2_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.VQL143fs	p.VQL143fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	561_567	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	143		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.429_435delGCAGCTG	CCDS11118.1																																																																																				0.599	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	37						10	37	---	---	---	---	-	7578501	CAGCTGC	-	7578495	7	5	494	1	0	1	0	1	0	0	0	0	16378	465	17	0	863	0	TP53	17	7578495	Frame_Shift_Del	DEL	CAGCTGC	TCGA-ZG-A9M4-01A-11D-A41K-08	1449	7578495	73616715	37	32803											
RALBP1	10928	broad.mit.edu	37	chr18	9524699	9524699	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgatggtctaacatggccacGatgcccacgctgccagagac	10	6	11	14	3	1	1	0	0	1	1	1	4	1	1	3	2	3	1	3	2	1	1	rs150447479		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr18:9524699G>A	ENST00000019317.4	+	5	1384	c.1161G>A	c.(1159-1161)acG>acA	p.T387T	RALBP1_ENST00000383432.3_Silent_p.T387T			Q15311	RBP1_HUMAN	ralA binding protein 1	387					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	ACATGGCCACGATGCCCACGC	0.532																																						ENST00000019317.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						c.(1159-1161)acG>acA		ralA binding protein 1		G		1,4405	2.1+/-5.4	0,1,2202	53	46	49		1161	-11	0.2	18	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous	RALBP1	NM_006788.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		387/656	9524699	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10928				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	g.chr18:9524699G>A	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1161G>A	18.37:g.9524699G>A						RALBP1_ENST00000383432.3_Silent_p.T387T	p.T387T			Q15311	RBP1_HUMAN			5	1384	+			387					D3DUI0	Silent	SNP	ENST00000019317.4	37	c.1161G>A	CCDS11845.1																																																																																				0.532	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		5	32	0	0	0	1	0	5	32					A	9524699	G	A	9524699	2	1	494	1	0	0	0	0	0	0	0	1	13012	1045	37	2		2	RALBP1	18	9524699	Silent	SNP	G	TCGA-ZG-A9M4-01A-11D-A41K-08		9524699	68552549	38	32804											
CLEC17A	388512	broad.mit.edu	37	chr19	14710850	14710850	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctggttcccagactgccgCcgaattacctgtcctgaagg	7	10	11	13	2	1	2	0	1	1	1	3	3	3	2	5	2	2	1	5	2	3	2			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr19:14710850C>T	ENST00000417570.1	+	12	788	c.750C>T	c.(748-750)cgC>cgT	p.R250R	CLEC17A_ENST00000547437.1_Silent_p.R250R|CLEC17A_ENST00000397439.2_Silent_p.R233R	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	250						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										CAGACTGCCGCCGAATTACCT	0.552																																						ENST00000547437.1																			0											c.(748-750)cgC>cgT		C-type lectin domain family 17, member A							52	51	51					19																	14710850		1973	4160	6133	SO:0001819	synonymous_variant	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14710850C>T	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"C-type lectin domain containing"	34520	protein-coding gene	gene with protein product	"prolectin"					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.750C>T	19.37:g.14710850C>T						CLEC17A_ENST00000417570.1_Silent_p.R250R|CLEC17A_ENST00000397439.2_Silent_p.R233R	p.R250R	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN			12	827	+			250					A8MX68|B2RTX0|B7ZMM4	Silent	SNP	ENST00000417570.1	37	c.750C>T	CCDS56087.1																																																																																				0.552	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		28	41	0	0	0	1	0	28	41					T	14710850	C	T	14710850	2	4	494	1	0	0	0	0	0	0	0	1	3501	726	26	3		3	CLEC17A	19	14710850	Silent	SNP	C	TCGA-ZG-A9M4-01A-11D-A41K-08		14710850	44418133	39	32805											
JUND	3727	broad.mit.edu	37	chr19	18391896	18391896	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagccctcggcgaactcctgCtcctcgctggccgccacctt	5	8	9	19	4	0	0	0	0	0	0	4	1	2	0	6	2	3	2	6	2	2	1			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr19:18391896C>A	ENST00000252818.3	-	1	536	c.399G>T	c.(397-399)gaG>gaT	p.E133D	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	133					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			lung(2)|prostate(1)	3						CGAACTCCTGCTCCTCGCTGG	0.706																																						ENST00000252818.3																			0				lung(2)|prostate(1)	3						c.(397-399)gaG>gaT		jun D proto-oncogene							17	18	17					19																	18391896		2196	4288	6484	SO:0001583	missense	3727				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	g.chr19:18391896C>A		CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"basic leucine zipper proteins"	6206	protein-coding gene	gene with protein product	"transcription factor jun-D", "JunD-FL isoform", "activator protein 1"	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.399G>T	19.37:g.18391896C>A	ENSP00000252818:p.Glu133Asp						p.E133D	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN			1	536	-			133					Q53EK9	Missense_Mutation	SNP	ENST00000252818.3	37	c.399G>T	CCDS32959.1	.	.	.	.	.	.	.	.	.	.	.	24.8	4.575454	0.86645	.	.	ENSG00000130522	ENST00000252818	T	0.33654	1.4	3.06	3.06	0.35304	Jun-like transcription factor (1);	0.152965	0.43416	U	0.000577	T	0.32133	0.0819	L	0.36672	1.1	0.50813	D	0.999893	P	0.38711	0.643	B	0.42245	0.381	T	0.20107	-1.0285	10	0.51188	T	0.08	.	11.9982	0.53216	0.0:1.0:0.0:0.0	.	133	P17535	JUND_HUMAN	D	133	ENSP00000252818:E133D	ENSP00000252818:E133D	E	-	3	2	JUND	18252896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.958000	0.40402	1.741000	0.51731	0.537000	0.68136	GAG		0.706	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466318.2	NM_005354		4	11	1	0	0.184627	1	0.184627	4	11					A	18391896	C	A	18391896	3	1	494	1	0	0	0	0	1	0	0	0	7971	796	28	5	648	5	JUND	19	18391896	Missense_Mutation	SNP	C	TCGA-ZG-A9M4-01A-11D-A41K-08	3681046	18391896	40737087	40	32806											
FCGBP	8857	broad.mit.edu	37	chr19	40395884	40395884	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctggtcacactgactcGcccattaccccaggccacgt	8	7	7	19	2	1	1	1	1	0	0	2	1	1	1	5	2	1	0	5	2	1	1	rs587719231		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr19:40395884G>A	ENST00000221347.6	-	15	7520	c.7513C>T	c.(7513-7515)Cga>Tga	p.R2505*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2505	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACACTGACTCGCCCATTACCC	0.627													G|||	1	0.000199681	0	0	5008	,	,		22912	0		0.001	False		,,,				2504	0					ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7513-7515)Cga>Tga		Fc fragment of IgG binding protein							104	93	97					19																	40395884		2166	3905	6071	SO:0001587	stop_gained	8857					extracellular region	protein binding	g.chr19:40395884G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7513C>T	19.37:g.40395884G>A	ENSP00000221347:p.Arg2505*						p.R2505*	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7520	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2505			VWFD 6.		O95784	Nonsense_Mutation	SNP	ENST00000221347.6	37	c.7513C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	47	13.703903	0.99758	.	.	ENSG00000090920	ENST00000221347	.	.	.	2.05	-4.11	0.03928	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	2.1228	0.03730	0.1316:0.1212:0.1928:0.5544	.	.	.	.	X	2505	.	ENSP00000221347:R2505X	R	-	1	2	FCGBP	45087724	0.000000	0.05858	0.001000	0.08648	0.667000	0.39255	-1.715000	0.01880	-1.126000	0.02929	0.298000	0.19748	CGA		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		18	101	0	0	0	1	0	18	101					A	40395884	G	A	40395884	4	1	494	1	0	0	0	0	0	1	0	0	5778	1095	38	1	8792	1	FCGBP	19	40395884	Nonsense_Mutation	SNP	G	TCGA-ZG-A9M4-01A-11D-A41K-08	22003988	40395884	18733099	41	32807											
C20orf186	149954	broad.mit.edu	37	chr20	31671327	31671327	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaataccgatatggtgagatCcttgagtccgagggaagcat	13	9	12	7	2	0	2	0	2	0	1	2	6	2	3	3	2	2	1	3	2	4	3			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr20:31671327C>A	ENST00000375483.3	+	3	324	c.324C>A	c.(322-324)atC>atA	p.I108I		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	108						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										ATGGTGAGATCCTTGAGTCCG	0.532																																						ENST00000375483.3																			0											c.(322-324)atC>atA		BPI fold containing family B, member 4							82	74	76					20																	31671327		2203	4300	6503	SO:0001819	synonymous_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671327C>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.324C>A	20.37:g.31671327C>A							p.I108I	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			3	324	+			108					Q5TDX6	Silent	SNP	ENST00000375483.3	37	c.324C>A	CCDS13213.2																																																																																				0.532	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		28	70	1	0	1.08312e-15	1	1.24794e-15	28	70					A	31671327	C	A	31671327	2	1	494	1	0	0	0	0	0	0	0	1	2098	845	30	5		5	C20orf186	20	31671327	Silent	SNP	C	TCGA-ZG-A9M4-01A-11D-A41K-08		31671327	31354193	42	32808											
JPH2	57158	broad.mit.edu	37	chr20	42815085	42815085	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcgtcccttgaagccatgTgtccactcgcccttgtagag	7	11	10	13	2	0	2	0	1	0	1	3	2	2	2	4	0	2	1	4	0	3	4			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr20:42815085T>C	ENST00000372980.3	-	1	1133	c.261A>G	c.(259-261)acA>acG	p.T87T	JPH2_ENST00000342272.3_Silent_p.T87T	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	87	Gly-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGAAGCCATGTGTCCACTCGC	0.612																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(259-261)acA>acG		junctophilin 2							143	109	121					20																	42815085		2203	4300	6503	SO:0001819	synonymous_variant	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42815085T>C	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.261A>G	20.37:g.42815085T>C						JPH2_ENST00000342272.3_Silent_p.T87T	p.T87T	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	1133	-		Myeloproliferative disorder(115;0.0122)	87			Gly-rich.		E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	c.261A>G	CCDS13325.1																																																																																				0.612	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			16	34	0	0	0	1	0	16	34					C	42815085	T	C	42815085	2	2	494	1	0	0	0	0	0	0	0	1	7961	1683	59	4		4	JPH2	20	42815085	Silent	SNP	T	TCGA-ZG-A9M4-01A-11D-A41K-08	11143758	42815085	20210435	43	32809											
RNF160	26046	broad.mit.edu	37	chr21	30359240	30359240	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaggagttctgcagctcGgccactgtttgaaggctgat	8	10	14	9	1	1	2	0	2	1	0	2	3	1	3	1	4	2	6	1	4	2	2			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr21:30359240G>C	ENST00000361371.5	-	2	137	c.58C>G	c.(58-60)Cga>Gga	p.R20G	LTN1_ENST00000389195.2_Missense_Mutation_p.R66G|LTN1_ENST00000389194.2_Missense_Mutation_p.R66G			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	20					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TCTGCAGCTCGGCCACTGTTT	0.433																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(58-60)Cga>Gga		listerin E3 ubiquitin protein ligase 1																																				SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30359240G>C	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.58C>G	21.37:g.30359240G>C	ENSP00000354977:p.Arg20Gly					LTN1_ENST00000389195.2_Missense_Mutation_p.R66G|LTN1_ENST00000389194.2_Missense_Mutation_p.R66G	p.R20G	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			2	208	-			20					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.58C>G		.	.	.	.	.	.	.	.	.	.	G	17.32	3.359496	0.61403	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.29397	1.91;1.93;1.57	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000004	T	0.56366	0.1980	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61118	-0.7127	10	0.62326	D	0.03	.	11.5883	0.50931	0.0:0.0:0.6934:0.3066	.	20	O94822	LTN1_HUMAN	G	66;20;20;66	ENSP00000373846:R66G;ENSP00000354977:R20G;ENSP00000373847:R66G	ENSP00000354977:R20G	R	-	1	2	LTN1	29281111	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.345000	0.59360	2.372000	0.80975	0.561000	0.74099	CGA		0.433	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		20	23	0	0	0	1	0	20	23					C	30359240	G	C	30359240	3	2	494	1	0	0	0	0	1	0	0	0	13455	1124	39	5	5358	5	RNF160	21	30359240	Missense_Mutation	SNP	G	TCGA-ZG-A9M4-01A-11D-A41K-08		30359240	17770655	44	32810											
CDC45	8318	broad.mit.edu	37	chr22	19502368	19502368	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgcctttgcaccaacctCgtcatctcccaggggccttt	6	11	8	16	1	2	0	1	0	1	0	4	0	2	0	5	2	4	2	5	2	1	2			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr22:19502368C>T	ENST00000407835.1	+	15	1570	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	CDC45_ENST00000404724.3_Silent_p.L392L|CDC45_ENST00000263201.1_Silent_p.L438L|CDC45_ENST00000437685.2_Silent_p.L470L			O75419	CDC45_HUMAN	cell division cycle 45	438					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GCACCAACCTCGTCATCTCCC	0.597																																						ENST00000407835.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						c.(1312-1314)ctC>ctT		cell division cycle 45							132	116	121					22																	19502368		2203	4300	6503	SO:0001819	synonymous_variant	8318				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	g.chr22:19502368C>T	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"human CDC45"	603465	"CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like", "CDC45 cell division cycle 45-like (S. cerevisiae)", "cell division cycle 45 homolog (S. cerevisiae)"	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1314C>T	22.37:g.19502368C>T						CDC45_ENST00000437685.2_Silent_p.L470L|CDC45_ENST00000263201.1_Silent_p.L438L|CDC45_ENST00000404724.3_Silent_p.L392L	p.L438L			O75419	CDC45_HUMAN			15	1570	+			438					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Silent	SNP	ENST00000407835.1	37	c.1314C>T	CCDS13762.1																																																																																				0.597	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		13	46	0	0	0	1	0	13	46					T	19502368	C	T	19502368	2	4	494	1	0	0	0	0	0	0	0	1	3081	871	31	2		2	CDC45	22	19502368	Silent	SNP	C	TCGA-ZG-A9M4-01A-11D-A41K-08		19502368	31802198	45	32811											
KDM6A	7403	broad.mit.edu	37	chrX	44949994	44949994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtataaattggcagtggaaCggtacgaatggaacaaattg	16	9	12	4	2	0	0	0	0	0	0	0	3	0	2	0	4	3	3	0	4	8	5			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chrX:44949994C>T	ENST00000377967.4	+	26	3804	c.3763C>T	c.(3763-3765)Cgg>Tgg	p.R1255W	KDM6A_ENST00000543216.1_Missense_Mutation_p.R1176W|KDM6A_ENST00000382899.4_Missense_Mutation_p.R1262W|KDM6A_ENST00000536777.1_Missense_Mutation_p.R1210W	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1255	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.R1255W(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GGCAGTGGAACGGTACGAATG	0.388			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		7	Whole gene deletion(6)|Substitution - Missense(1)	p.0?(6)|p.R1255W(1)	breast(3)|oesophagus(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(3763-3765)Cgg>Tgg		lysine (K)-specific demethylase 6A							148	123	131					X																	44949994		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44949994C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3763C>T	X.37:g.44949994C>T	ENSP00000367203:p.Arg1255Trp					KDM6A_ENST00000543216.1_Missense_Mutation_p.R1176W|KDM6A_ENST00000536777.1_Missense_Mutation_p.R1210W|KDM6A_ENST00000382899.4_Missense_Mutation_p.R1262W	p.R1255W	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			26	3804	+			1255			JmjC.		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.3763C>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.944645|3.944645	0.73672|0.73672	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	T;T;T;T|.	0.71579|.	-0.58;-0.58;-0.58;-0.58|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Transcription factor jumonji/aspartyl beta-hydroxylase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80226|0.80226	0.4584|0.4584	M|M	0.88906|0.88906	2.99|2.99	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.99;0.996;1.0;0.995;0.999|.	D|D	0.83541|0.83541	0.0096|0.0096	10|5	0.87932|.	D|.	0|.	-13.3423|-13.3423	14.3106|14.3106	0.66413|0.66413	0.1488:0.8512:0.0:0.0|0.1488:0.8512:0.0:0.0	.|.	894;1262;1210;1307;1255|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550|.	.;.;.;.;KDM6A_HUMAN|.	W|M	952;1255;1210;1262;1176|852;897	ENSP00000367203:R1255W;ENSP00000437405:R1210W;ENSP00000372355:R1262W;ENSP00000443078:R1176W|.	ENSP00000334340:R952W|.	R|T	+|+	1|2	2|0	KDM6A|KDM6A	44834938|44834938	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.676000|5.676000	0.68131|0.68131	2.361000|2.361000	0.80049|0.80049	0.529000|0.529000	0.55759|0.55759	CGG|ACG		0.388	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		3	38	0	0	0	1	0	3	38					T	44949994	C	T	44949994	3	4	494	1	0	0	0	0	1	0	0	0	8137	527	19	1	3865	1	KDM6A	23	44949994	Missense_Mutation	SNP	C	TCGA-ZG-A9M4-01A-11D-A41K-08		44949994	110320566	46	32812											
RAB33A	9363	broad.mit.edu	37	chrX	129318354	129318354	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtggtcttcgtctatgaCgtcaccaagatgacatcttt	8	13	9	11	3	4	3	1	2	3	1	5	3	4	3	2	1	0	0	2	1	2	3			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chrX:129318354C>T	ENST00000257017.4	+	2	768	c.354C>T	c.(352-354)gaC>gaT	p.D118D		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	118					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						TCGTCTATGACGTCACCAAGA	0.517																																						ENST00000257017.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(352-354)gaC>gaT		RAB33A, member RAS oncogene family							160	120	133					X																	129318354		2203	4300	6503	SO:0001819	synonymous_variant	9363				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chrX:129318354C>T	D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"RAB, member RAS oncogene"	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.354C>T	X.37:g.129318354C>T							p.D118D	NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN			2	768	+			118					Q5JUZ6|Q92465	Silent	SNP	ENST00000257017.4	37	c.354C>T	CCDS14621.1																																																																																				0.517	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794		4	29	0	0	0	1	0	4	29					T	129318354	C	T	129318354	2	4	494	1	0	0	0	0	0	0	0	1	12922	535	19	1		1	RAB33A	23	129318354	Silent	SNP	C	TCGA-ZG-A9M4-01A-11D-A41K-08	84368360	129318354	25952206	47	32813											
PTCHD2	57540	broad.mit.edu	37	chr1	11562088	11562088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacctacttttttcccaccGagaggggcggcaagatctac	9	10	10	12	2	1	3	0	1	1	2	2	4	2	3	3	3	2	1	3	3	3	5			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:11562088G>A	ENST00000294484.6	+	2	1177	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	PTCHD2_ENST00000389575.3_Missense_Mutation_p.E347K	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	347					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TTTTCCCACCGAGAGGGGCGG	0.642																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(1039-1041)Gag>Aag		patched domain containing 2							33	36	35					1																	11562088		1906	4119	6025	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11562088G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1039G>A	1.37:g.11562088G>A	ENSP00000294484:p.Glu347Lys					PTCHD2_ENST00000389575.3_Missense_Mutation_p.E347K	p.E347K	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		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)	2	1177	+	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)	347					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.1039G>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957615	0.92726	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.57907	0.37;0.37	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.55784	0.1942	N	0.12182	0.205	0.58432	D	0.999998	D	0.89917	1.0	D	0.77557	0.99	T	0.56001	-0.8051	10	0.25751	T	0.34	-37.534	18.2403	0.89966	0.0:0.0:1.0:0.0	.	347	Q9P2K9	PTHD2_HUMAN	K	347	ENSP00000294484:E347K;ENSP00000374226:E347K	ENSP00000294484:E347K	E	+	1	0	PTCHD2	11484675	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	7.591000	0.82666	2.542000	0.85734	0.655000	0.94253	GAG		0.642	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		5	25	0	0	0	1	0	5	25					A	11562088	G	A	11562088	3	1	495	1	0	0	0	0	1	0	0	0	12733	1059	37	2	1041	2	PTCHD2	1	11562088	Missense_Mutation	SNP	G	TCGA-ZG-A9MC-01A-31D-A41K-08		11562088	237688533	1	32814											
LDLRAP1	26119	broad.mit.edu	37	chr1	25889581	25889581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagagaagagggacaaaGccagccaagagggaggggac	18	0	17	6	0	0	4	0	0	0	4	0	8	0	7	2	4	2	0	2	4	4	0			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:25889581G>A	ENST00000374338.4	+	6	672	c.553G>A	c.(553-555)Gcc>Acc	p.A185T	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	185	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		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)		GAGGGACAAAGCCAGCCAAGA	0.617																																						ENST00000374338.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						c.(553-555)Gcc>Acc		low density lipoprotein receptor adaptor protein 1							52	55	54					1																	25889581		2203	4300	6503	SO:0001583	missense	26119				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	g.chr1:25889581G>A	BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.553G>A	1.37:g.25889581G>A	ENSP00000363458:p.Ala185Thr					LDLRAP1_ENST00000488127.1_3'UTR	p.A185T	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN		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)	6	672	+		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)	185			PID.		A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Missense_Mutation	SNP	ENST00000374338.4	37	c.553G>A	CCDS30639.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903226	0.52333	.	.	ENSG00000157978	ENST00000374338	T	0.56611	0.45	5.51	4.59	0.56863	.	0.212969	0.49305	D	0.000151	T	0.40372	0.1114	L	0.42245	1.32	0.37099	D	0.899827	B;B	0.17038	0.02;0.007	B;B	0.12837	0.008;0.005	T	0.37056	-0.9722	10	0.21014	T	0.42	-13.9721	8.0099	0.30347	0.0821:0.0:0.7518:0.1661	.	185;185	B3KR97;Q5SW96	.;ARH_HUMAN	T	185	ENSP00000363458:A185T	ENSP00000363458:A185T	A	+	1	0	LDLRAP1	25762168	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.232000	0.32636	1.470000	0.48102	0.561000	0.74099	GCC		0.617	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	NM_015627		7	69	0	0	0	1	0	7	69					A	25889581	G	A	25889581	3	1	495	1	0	0	0	0	1	0	0	0	8708	971	34	3	575	3	LDLRAP1	1	25889581	Missense_Mutation	SNP	G	TCGA-ZG-A9MC-01A-31D-A41K-08	14327493	25889581	223361040	2	32815											
LEPR	3953	broad.mit.edu	37	chr1	66067276	66067276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttttcaatctgaatgaaaCcaaacctcgaggaaagttta	15	13	6	7	1	2	2	1	2	1	0	3	4	2	3	2	1	2	1	2	1	6	5			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:66067276C>T	ENST00000349533.6	+	9	1381	c.1196C>T	c.(1195-1197)aCc>aTc	p.T399I	LEPR_ENST00000371059.3_Missense_Mutation_p.T399I|LEPR_ENST00000344610.8_Missense_Mutation_p.T399I|LEPR_ENST00000371058.1_Missense_Mutation_p.T399I|LEPR_ENST00000371060.3_Missense_Mutation_p.T399I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTGAATGAAACCAAACCTCGA	0.363																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(1195-1197)aCc>aTc		leptin receptor							102	99	100					1																	66067276		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66067276C>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1196C>T	1.37:g.66067276C>T	ENSP00000330393:p.Thr399Ile					LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.T399I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.T399I|LEPR_ENST00000371059.3_Missense_Mutation_p.T399I|LEPR_ENST00000371060.3_Missense_Mutation_p.T399I	p.T399I	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	9	1381	+			399			Ig-like.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.1196C>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880196	0.51801	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.98	4.98	0.66077	Immunoglobulin-like (1);Immunoglobulin C2-set-like, ligand-binding (1);Immunoglobulin-like fold (1);	0.190901	0.45606	D	0.000359	D	0.83778	0.5328	M	0.72118	2.19	0.80722	D	1	D;P;P	0.76494	0.999;0.811;0.859	D;P;P	0.76575	0.988;0.551;0.58	D	0.85519	0.1202	10	0.87932	D	0	-14.1841	12.8212	0.57694	0.0:0.9217:0.0:0.0783	.	399;399;399	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	I	399	ENSP00000340884:T399I;ENSP00000330393:T399I;ENSP00000360099:T399I;ENSP00000360098:T399I;ENSP00000360097:T399I	ENSP00000340884:T399I	T	+	2	0	LEPR	65839864	0.986000	0.35501	0.989000	0.46669	0.620000	0.37586	2.098000	0.41757	2.582000	0.87167	0.655000	0.94253	ACC		0.363	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		4	59	0	0	0	1	0	4	59					T	66067276	C	T	66067276	3	4	495	1	0	0	0	0	1	0	0	0	8728	507	18	3	1222	3	LEPR	1	66067276	Missense_Mutation	SNP	C	TCGA-ZG-A9MC-01A-31D-A41K-08	40177695	66067276	183183345	3	32816											
NGF	4803	broad.mit.edu	37	chr1	115828942	115828942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgttcacctctcccaacaCcatcacctccttgcccttga	9	11	3	18	0	3	1	2	1	1	0	5	1	4	1	6	0	2	1	6	0	2	3			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:115828942C>A	ENST00000369512.2	-	3	643	c.475G>T	c.(475-477)Gtg>Ttg	p.V159L	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	159					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCTCCCAACACCATCACCTCC	0.537																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(475-477)Gtg>Ttg		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						159	139	146					1																	115828942		2203	4300	6503	SO:0001583	missense	4803				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	g.chr1:115828942C>A		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"Endogenous ligands"	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.475G>T	1.37:g.115828942C>A	ENSP00000358525:p.Val159Leu					RP4-663N10.1_ENST00000425449.1_RNA	p.V159L	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		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)	3	643	-	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)	159					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.475G>T	CCDS882.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654711	0.88056	.	.	ENSG00000134259	ENST00000369512	T	0.73258	-0.73	5.02	5.02	0.67125	Nerve growth factor-related (4);	0.000000	0.85682	D	0.000000	T	0.78130	0.4235	L	0.54323	1.7	0.80722	D	1	D	0.65815	0.995	D	0.77557	0.99	T	0.80248	-0.1461	10	0.72032	D	0.01	-14.9137	17.4573	0.87610	0.0:1.0:0.0:0.0	.	159	P01138	NGF_HUMAN	L	159	ENSP00000358525:V159L	ENSP00000358525:V159L	V	-	1	0	NGF	115630465	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	7.731000	0.84895	2.483000	0.83821	0.313000	0.20887	GTG		0.537	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		7	84	1	0	8.12818e-05	1	8.7378e-05	7	84					A	115828942	C	A	115828942	3	1	495	1	0	0	0	0	1	0	0	0	10395	507	18	5	254	5	NGF	1	115828942	Missense_Mutation	SNP	C	TCGA-ZG-A9MC-01A-31D-A41K-08	49761666	115828942	133421679	4	32817											
RFWD2	64326	broad.mit.edu	37	chr1	175996718	175996718	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catttcttacctgcacagccGaaagccaaatggtatctgga	12	10	8	11	1	2	0	0	0	2	0	2	2	2	1	3	2	4	2	3	2	4	3			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:175996718G>A	ENST00000367669.3	-	15	2233	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	RFWD2_ENST00000308769.8_Silent_p.F549F	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	573					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTGCACAGCCGAAAGCCAAAT	0.398																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1717-1719)ttC>ttT		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase							115	103	107					1																	175996718		2203	4300	6503	SO:0001819	synonymous_variant	64326				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	g.chr1:175996718G>A	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1719C>T	1.37:g.175996718G>A						RFWD2_ENST00000308769.8_Silent_p.F549F	p.F573F	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN			15	2233	-			573					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	ENST00000367669.3	37	c.1719C>T	CCDS30944.1																																																																																				0.398	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		6	54	0	0	0	1	0	6	54					A	175996718	G	A	175996718	2	1	495	1	0	0	0	0	0	0	0	1	13260	1049	37	2		2	RFWD2	1	175996718	Silent	SNP	G	TCGA-ZG-A9MC-01A-31D-A41K-08	60167776	175996718	73253903	5	32818											
DISP1	84976	broad.mit.edu	37	chr1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgatgctttggggtttatgCggggacagctatattggtga	7	13	15	6	2	0	1	0	1	0	0	0	3	0	2	1	5	3	3	1	5	3	6	rs148231227		TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													C|||	1	0.000199681	8e-04	0	5008	,	,		21104	0		0	False		,,,				2504	0					ENST00000284476.6																			1	Substitution - Missense(1)	p.A637V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1909-1911)gCg>gTg		dispatched homolog 1 (Drosophila)							117	107	111					1																	223176649		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176649C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1910C>T	1.37:g.223176649C>T	ENSP00000284476:p.Ala637Val						p.A637V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2074	+			637			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1910C>T	CCDS1536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.902435	0.52227	.	.	ENSG00000154309	ENST00000284476	D	0.90900	-2.75	5.91	5.91	0.95273	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94353	0.7581	10	0.49607	T	0.09	-33.4464	20.2983	0.98569	0.0:1.0:0.0:0.0	.	637	Q96F81	DISP1_HUMAN	V	637	ENSP00000284476:A637V	ENSP00000284476:A637V	A	+	2	0	DISP1	221243272	1.000000	0.71417	0.564000	0.28396	0.121000	0.20230	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GCG		0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		4	195	0	0	0	1	0	4	195					T	223176649	C	T	223176649	3	4	495	1	0	0	0	0	1	0	0	0	4539	768	27	1	1936	1	DISP1	1	223176649	Missense_Mutation	SNP	C	TCGA-ZG-A9MC-01A-31D-A41K-08	47179931	223176649	26073972	6	32819											
SLC35F3	148641	broad.mit.edu	37	chr1	234452357	234452357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgtccagattgtggccGccatcctcgccatcgctggc	4	10	11	16	4	1	1	0	0	1	1	5	1	3	1	5	2	0	1	5	2	0	1			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:234452357G>A	ENST00000366617.3	+	4	859	c.631G>A	c.(631-633)Gcc>Acc	p.A211T	SLC35F3_ENST00000366618.3_Missense_Mutation_p.A280T			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	211					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.A280T(2)		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)			GATTGTGGCCGCCATCCTCGC	0.582																																						ENST00000366618.3																			2	Substitution - Missense(2)	p.A280T(2)	large_intestine(2)	breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(838-840)Gcc>Acc		solute carrier family 35, member F3							290	288	289					1																	234452357		2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234452357G>A		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.631G>A	1.37:g.234452357G>A	ENSP00000355576:p.Ala211Thr					SLC35F3_ENST00000366617.3_Missense_Mutation_p.A211T	p.A280T	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		5	983	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	211					Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37	c.838G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.647260	0.96714	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.63096	-0.02;-0.02	5.73	5.73	0.89815	Drug/metabolite transporter (1);	0.000000	0.85682	D	0.000000	T	0.72938	0.3523	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.74166	-0.3753	10	0.62326	D	0.03	-24.8442	19.8785	0.96886	0.0:0.0:1.0:0.0	.	211;280	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	T	280;211	ENSP00000355577:A280T;ENSP00000355576:A211T	ENSP00000355576:A211T	A	+	1	0	SLC35F3	232518980	1.000000	0.71417	0.985000	0.45067	0.908000	0.53690	9.860000	0.99555	2.695000	0.91970	0.655000	0.94253	GCC		0.582	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		15	403	0	0	0	1	0	15	403					A	234452357	G	A	234452357	3	1	495	1	0	0	0	0	1	0	0	0	14590	1087	38	1	856	1	SLC35F3	1	234452357	Missense_Mutation	SNP	G	TCGA-ZG-A9MC-01A-31D-A41K-08	11275708	234452357	14798264	7	32820											
IFT172	26160	broad.mit.edu	37	chr2	27669200	27669200	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgacgcaagagtgaaacaGaaagcctggcagccacggtt	13	6	13	9	2	0	4	0	2	0	2	0	4	0	4	2	2	3	3	2	2	3	1			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr2:27669200G>C	ENST00000260570.3	-	43	4785	c.4682C>G	c.(4681-4683)tCt>tGt	p.S1561C	KRTCAP3_ENST00000543753.1_3'UTR	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1561					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				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)					GAGTGAAACAGAAAGCCTGGC	0.507																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(4681-4683)tCt>tGt		intraflagellar transport 172 homolog (Chlamydomonas)							90	87	88					2																	27669200		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27669200G>C	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4682C>G	2.37:g.27669200G>C	ENSP00000260570:p.Ser1561Cys					KRTCAP3_ENST00000543753.1_3'UTR	p.S1561C	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			43	4785	-	Acute lymphoblastic leukemia(172;0.155)		1561					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.4682C>G	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108151	0.56291	.	.	ENSG00000138002	ENST00000260570	T	0.52754	0.65	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	M	0.73372	2.23	0.80722	D	1	P	0.38800	0.648	B	0.43274	0.414	T	0.57213	-0.7850	10	0.46703	T	0.11	-10.4544	15.4403	0.75178	0.0:0.0:1.0:0.0	.	1561	Q9UG01	IF172_HUMAN	C	1561	ENSP00000260570:S1561C	ENSP00000260570:S1561C	S	-	2	0	IFT172	27522704	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.750000	0.91623	2.440000	0.82611	0.561000	0.74099	TCT		0.507	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		5	53	0	0	0	1	0	5	53					C	27669200	G	C	27669200	3	2	495	1	0	0	0	0	1	0	0	0	7557	942	33	5	591	5	IFT172	2	27669200	Missense_Mutation	SNP	G	TCGA-ZG-A9MC-01A-31D-A41K-08		27669200	215530173	8	32821											
MARCH1	55016	broad.mit.edu	37	chr4	164534519	164534519	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttgactggctcctgggAgctgtccctgttgttgggct	4	13	13	11	0	0	1	0	1	0	0	2	2	2	2	3	3	2	5	3	3	1	3			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr4:164534519A>G	ENST00000503008.1	-	5	1165	c.189T>C	c.(187-189)gcT>gcC	p.A63A	MARCH1_ENST00000514618.1_Silent_p.A63A|MARCH1_ENST00000274056.7_Silent_p.A63A|MARCH1_ENST00000339875.5_Silent_p.A46A	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	63	Responsible for low stability. {ECO:0000250}.				antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGCTCCTGGGAGCTGTCCCTG	0.413																																						ENST00000503008.1																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(187-189)gcT>gcC		membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase							117	111	113					4																	164534519		2203	4300	6503	SO:0001819	synonymous_variant	55016				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	g.chr4:164534519A>G	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26077	protein-coding gene	gene with protein product		613331	"membrane-associated ring finger (C3HC4) 1"			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.189T>C	4.37:g.164534519A>G						MARCH1_ENST00000514618.1_Silent_p.A63A|MARCH1_ENST00000274056.7_Silent_p.A63A|MARCH1_ENST00000339875.5_Silent_p.A46A	p.A63A	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN			5	1165	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	63			Responsible for low stability (By similarity).		D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	c.189T>C	CCDS54814.1																																																																																				0.413	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		9	79	0	0	0	1	0	9	79					G	164534519	A	G	164534519	2	3	495	1	0	0	0	0	0	0	0	1	9298	291	11	4		4	MARCH1	4	164534519	Silent	SNP	A	TCGA-ZG-A9MC-01A-31D-A41K-08		164534519	26619757	9	32822											
PCDHAC2	56134	broad.mit.edu	37	chr5	140346986	140346986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcttgagctggtgctgcGtaagggcctagaccgggagc	7	8	17	9	2	0	2	0	1	0	1	0	3	0	3	2	3	5	4	2	3	2	3	rs374310490		TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr5:140346986G>A	ENST00000289269.5	+	1	1167	c.635G>A	c.(634-636)cGt>cAt	p.R212H	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	212	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			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)			CTGGTGCTGCGTAAGGGCCTA	0.617																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				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						c.(634-636)cGt>cAt									42	37	38					5																	140346986		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140346986G>A	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.635G>A	5.37:g.140346986G>A	ENSP00000289269:p.Arg212His					PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron	p.R212H	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1167	+			212			Cadherin 2.		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.635G>A	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732447	0.48939	.	.	ENSG00000243232	ENST00000289269	T	0.53206	0.63	5.44	4.57	0.56435	Cadherin (4);Cadherin-like (1);	0.000000	0.39146	N	0.001448	T	0.43478	0.1249	N	0.25485	0.75	0.35388	D	0.790506	P;D	0.61080	0.471;0.989	B;P	0.55749	0.097;0.783	T	0.57329	-0.7830	10	0.87932	D	0	.	4.4777	0.11752	0.1708:0.0:0.5265:0.3027	.	212;212	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	H	212	ENSP00000289269:R212H	ENSP00000289269:R212H	R	+	2	0	PCDHAC2	140327170	0.976000	0.34144	0.863000	0.33907	0.828000	0.46876	5.132000	0.64758	1.294000	0.44707	0.561000	0.74099	CGT		0.617	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		3	16	0	0	0	1	0	3	16					A	140346986	G	A	140346986	3	1	495	1	0	0	0	0	1	0	0	0	11533	1145	40	1	637	1	PCDHAC2	5	140346986	Missense_Mutation	SNP	G	TCGA-ZG-A9MC-01A-31D-A41K-08		140346986	40568274	10	32823											
PCDHB7	56129	broad.mit.edu	37	chr5	140553130	140553130	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttctagacgtaaatgacaaCgcccctgattttgtgcggtc	9	12	10	10	3	1	3	0	2	1	1	2	3	1	3	2	1	2	2	2	1	4	5			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr5:140553130C>T	ENST00000231137.3	+	1	888	c.714C>T	c.(712-714)aaC>aaT	p.N238N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	238	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N238N(3)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAATGACAACGCCCCTGATT	0.542																																						ENST00000231137.3																			3	Substitution - coding silent(3)	p.N238N(3)	prostate(2)|endometrium(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(712-714)aaC>aaT									60	63	62					5																	140553130		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553130C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.714C>T	5.37:g.140553130C>T							p.N238N	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	888	+			238			Cadherin 2.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.714C>T	CCDS4249.1																																																																																				0.542	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		7	69	0	0	0	1	0	7	69					T	140553130	C	T	140553130	2	4	495	1	0	0	0	0	0	0	0	1	11547	535	19	1		1	PCDHB7	5	140553130	Silent	SNP	C	TCGA-ZG-A9MC-01A-31D-A41K-08	206144	140553130	40362130	11	32824											
GABRP	2568	broad.mit.edu	37	chr5	170236677	170236677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatgtgtacctggggatctGctttagctttgtgtttgggg	4	16	15	6	1	1	0	0	0	1	0	1	2	1	1	1	4	3	4	1	4	2	5			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr5:170236677G>A	ENST00000518525.1	+	10	1402	c.938G>A	c.(937-939)tGc>tAc	p.C313Y	GABRP_ENST00000265294.4_Missense_Mutation_p.C313Y|GABRP_ENST00000519598.1_Missense_Mutation_p.C313Y|GABRP_ENST00000519385.1_Intron			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	313					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTGGGGATCTGCTTTAGCTTT	0.502											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518525.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29						c.(937-939)tGc>tAc		gamma-aminobutyric acid (GABA) A receptor, pi							319	272	288					5																	170236677		2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170236677G>A	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4089	protein-coding gene	gene with protein product	"GABA(A) receptor, pi"	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.938G>A	5.37:g.170236677G>A	ENSP00000430100:p.Cys313Tyr		OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1883	GABRP_ENST00000265294.4_Missense_Mutation_p.C313Y|GABRP_ENST00000519598.1_Missense_Mutation_p.C313Y|GABRP_ENST00000519385.1_Intron	p.C313Y			O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1402	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	313					A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.938G>A	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724236	0.89298	.	.	ENSG00000094755	ENST00000518525;ENST00000265294;ENST00000519598	D;D;D	0.87966	-2.32;-2.32;-2.32	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95771	0.8624	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96900	0.9659	10	0.87932	D	0	.	18.75	0.91810	0.0:0.0:1.0:0.0	.	313	O00591	GBRP_HUMAN	Y	313	ENSP00000430100:C313Y;ENSP00000265294:C313Y;ENSP00000430772:C313Y	ENSP00000265294:C313Y	C	+	2	0	GABRP	170169255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.529000	0.85273	0.655000	0.94253	TGC		0.502	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		19	90	0	0	0	1	0	19	90					A	170236677	G	A	170236677	3	1	495	1	0	0	0	0	1	0	0	0	6174	1319	46	3	968	3	GABRP	5	170236677	Missense_Mutation	SNP	G	TCGA-ZG-A9MC-01A-31D-A41K-08	29683547	170236677	10678583	12	32825											
OR10C1	442194	broad.mit.edu	37	chr6	29408019	29408019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattggctatacgtctgtcaCggtccccctgctacttcacc	6	12	8	15	2	3	0	2	0	1	0	4	1	4	0	3	2	3	2	3	2	3	5			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr6:29408019C>T	ENST00000444197.2	+	1	937	c.227C>T	c.(226-228)aCg>aTg	p.T76M	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACGTCTGTCACGGTCCCCCTG	0.577																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(226-228)aCg>aTg		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							161	143	150					6																	29408019		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408019C>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.227C>T	6.37:g.29408019C>T	ENSP00000419119:p.Thr76Met					OR11A1_ENST00000377149.1_Intron	p.T76M	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	937	+			76					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.227C>T	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	7.874	0.728727	0.15507	.	.	ENSG00000206474	ENST00000444197	T	0.00882	5.58	3.32	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001132	T	0.01940	0.0061	M	0.88570	2.965	0.09310	N	0.999996	D	0.69078	0.997	P	0.61722	0.893	T	0.38090	-0.9677	10	0.52906	T	0.07	.	6.6195	0.22796	0.0:0.8667:0.0:0.1333	.	76	Q96KK4	O10C1_HUMAN	M	76	ENSP00000419119:T76M	ENSP00000419119:T76M	T	+	2	0	OR10C1	29515998	0.000000	0.05858	0.287000	0.24848	0.043000	0.13939	-0.103000	0.10940	1.858000	0.53909	0.196000	0.17591	ACG		0.577	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			12	85	0	0	0	1	0	12	85					T	29408019	C	T	29408019	3	4	495	1	0	0	0	0	1	0	0	0	10898	536	19	1	229	1	OR10C1	6	29408019	Missense_Mutation	SNP	C	TCGA-ZG-A9MC-01A-31D-A41K-08		29408019	141707048	13	32826			1	53		2	2	52	N	G_C	6.095414e-05
OR10C1	442194	broad.mit.edu	37	chr6	29408070	29408070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccggcgccacatctctcGctctggatgtgctctccaga	5	10	11	15	3	3	1	0	0	3	1	6	2	3	2	3	3	1	2	3	3	0	0			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr6:29408070G>A	ENST00000444197.2	+	1	988	c.278G>A	c.(277-279)cGc>cAc	p.R93H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CACATCTCTCGCTCTGGATGT	0.587																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(277-279)cGc>cAc		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							111	107	108					6																	29408070		1508	2708	4216	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408070G>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.278G>A	6.37:g.29408070G>A	ENSP00000419119:p.Arg93His					OR11A1_ENST00000377149.1_Intron	p.R93H	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	988	+			93					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.278G>A	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884573	0.33255	.	.	ENSG00000206474	ENST00000444197	T	0.00397	7.57	3.32	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33591	U	0.004760	T	0.00109	0.0003	N	0.11927	0.2	0.09310	N	1	D	0.69078	0.997	D	0.66602	0.945	T	0.49380	-0.8946	10	0.87932	D	0	.	2.9417	0.05833	0.3922:0.0:0.413:0.1949	.	93	Q96KK4	O10C1_HUMAN	H	93	ENSP00000419119:R93H	ENSP00000419119:R93H	R	+	2	0	OR10C1	29516049	0.000000	0.05858	0.074000	0.20217	0.554000	0.35429	-0.336000	0.07863	0.234000	0.21139	0.196000	0.17591	CGC		0.587	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			6	61	0	0	0	1	0	6	61					A	29408070	G	A	29408070	3	1	495	1	0	0	0	0	1	0	0	0	10898	1087	38	1	280	1	OR10C1	6	29408070	Missense_Mutation	SNP	G	TCGA-ZG-A9MC-01A-31D-A41K-08	51	29408070	141706997	14	32827			1	53		2	2	52	N	G_C	6.095414e-05
EXT1	2131	broad.mit.edu	37	chr8	119122902	119122902	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaatgttttggtaactttcGgcgattttctcccctttttg	6	19	8	8	2	1	1	0	0	1	1	3	2	1	1	2	2	1	2	2	2	2	8			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr8:119122902G>C	ENST00000378204.2	-	1	1190	c.384C>G	c.(382-384)gcC>gcG	p.A128A		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	128					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			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)			GGTAACTTTCGGCGATTTTCT	0.512			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"Mis, N, F, S"	multiple exostoses type 1 gene			M		"exostoses, osteosarcoma"			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(382-384)gcC>gcG		exostosin glycosyltransferase 1							87	95	92					8																	119122902		2203	4300	6503	SO:0001819	synonymous_variant	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	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	g.chr8:119122902G>C	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.384C>G	8.37:g.119122902G>C							p.A128A	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		1	1190	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		128					B2R7V2|Q9BVI9	Silent	SNP	ENST00000378204.2	37	c.384C>G	CCDS6324.1																																																																																				0.512	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		5	82	0	0	0	1	0	5	82					C	119122902	G	C	119122902	2	2	495	1	0	0	0	0	0	0	0	1	5323	1103	39	5		5	EXT1	8	119122902	Silent	SNP	G	TCGA-ZG-A9MC-01A-31D-A41K-08		119122902	27241120	15	32828											
FAM135B	51059	broad.mit.edu	37	chr8	139163880	139163880	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcctgttgagttcctgttGatggcatcagcagctgacgt	6	13	13	9	1	1	3	1	3	0	0	2	3	2	3	2	2	2	6	2	2	0	3			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr8:139163880G>C	ENST00000395297.1	-	13	3008	c.2838C>G	c.(2836-2838)atC>atG	p.I946M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	946										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)			AGTTCCTGTTGATGGCATCAG	0.502										HNSCC(54;0.14)																												ENST00000395297.1																			0				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						c.(2836-2838)atC>atG		family with sequence similarity 135, member B							150	124	133					8																	139163880		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139163880G>C	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2838C>G	8.37:g.139163880G>C	ENSP00000378710:p.Ile946Met	HNSCC(54;0.14)					p.I946M	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	3008	-	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)		946					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2838C>G	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	9.714	1.157908	0.21454	.	.	ENSG00000147724	ENST00000395297	T	0.16597	2.33	5.24	-1.1	0.09872	.	1.992990	0.01657	N	0.024886	T	0.09730	0.0239	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14012	0.009;0.009;0.0	B;B;B	0.12837	0.008;0.005;0.001	T	0.21211	-1.0252	10	0.33940	T	0.23	1.6968	2.2071	0.03938	0.4691:0.1281:0.2721:0.1307	.	946;946;946	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	M	946	ENSP00000378710:I946M	ENSP00000276737:I946M	I	-	3	3	FAM135B	139233062	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.325000	0.07976	-0.280000	0.09154	-0.165000	0.13383	ATC		0.502	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		15	150	0	0	0	1	0	15	150					C	139163880	G	C	139163880	3	2	495	1	0	0	0	0	1	0	0	0	5449	1280	45	5	1414	5	FAM135B	8	139163880	Missense_Mutation	SNP	G	TCGA-ZG-A9MC-01A-31D-A41K-08	20040978	139163880	7200142	16	32829											
RRP12	23223	broad.mit.edu	37	chr10	99133362	99133362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccttggtgatgagggtgcGcagggcctggcacacggtga	6	7	18	10	2	0	3	0	3	0	0	0	3	0	3	2	5	1	2	2	5	0	1	rs187180200	byFrequency	TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr10:99133362G>A	ENST00000370992.4	-	17	2107	c.1996C>T	c.(1996-1998)Cgc>Tgc	p.R666C	RRP12_ENST00000414986.1_Missense_Mutation_p.R605C|RRP12_ENST00000315563.6_Missense_Mutation_p.R566C|RRP12_ENST00000479481.1_5'Flank|RRP12_ENST00000536831.1_Missense_Mutation_p.R384C	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	666						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			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)		ATGAGGGTGCGCAGGGCCTGG	0.667													G|||	2	0.000399361	0	0	5008	,	,		20420	0.001		0.001	False		,,,				2504	0					ENST00000370992.4																			0				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						c.(1996-1998)Cgc>Tgc		ribosomal RNA processing 12 homolog (S. cerevisiae)							44	43	44					10																	99133362		2203	4299	6502	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99133362G>A		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1996C>T	10.37:g.99133362G>A	ENSP00000360031:p.Arg666Cys					RRP12_ENST00000315563.6_Missense_Mutation_p.R566C|RRP12_ENST00000536831.1_Missense_Mutation_p.R384C|RRP12_ENST00000414986.1_Missense_Mutation_p.R605C	p.R666C	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	17	2107	-		Colorectal(252;0.162)	666					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.1996C>T	CCDS7457.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	29.3	4.993719	0.93167	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	4.71	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);Uncharacterised domain NUC173 (1);	0.047718	0.85682	D	0.000000	D	0.84165	0.5412	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.954;0.983;0.997	D	0.86677	0.1914	9	.	.	.	-20.2681	17.821	0.88650	0.0:0.0:1.0:0.0	.	605;566;384;666	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	C	666;566;605;384	ENSP00000360031:R666C;ENSP00000324315:R566C;ENSP00000414863:R605C;ENSP00000446184:R384C	.	R	-	1	0	RRP12	99123352	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.294000	0.96088	2.440000	0.82611	0.462000	0.41574	CGC		0.667	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		3	29	0	0	0	1	0	3	29					A	99133362	G	A	99133362	3	1	495	1	0	0	0	0	1	0	0	0	13686	1087	38	1	1969	1	RRP12	10	99133362	Missense_Mutation	SNP	G	TCGA-ZG-A9MC-01A-31D-A41K-08		99133362	36401385	17	32830											
SYT9	143425	broad.mit.edu	37	chr11	7324413	7324413	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtagcaaagacaacaaccagGagccccttaactacatggac	16	5	8	12	0	0	1	0	0	0	1	0	3	0	3	3	2	6	2	3	2	6	3			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr11:7324413G>T	ENST00000318881.6	+	2	526	c.289G>T	c.(289-291)Gag>Tag	p.E97*	SYT9_ENST00000396716.2_Nonsense_Mutation_p.E65*	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	97					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CAACAACCAGGAGCCCCTTAA	0.547																																						ENST00000318881.6																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(289-291)Gag>Tag		synaptotagmin IX							178	163	168					11																	7324413		2201	4296	6497	SO:0001587	stop_gained	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7324413G>T	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.289G>T	11.37:g.7324413G>T	ENSP00000324419:p.Glu97*					SYT9_ENST00000396716.2_Nonsense_Mutation_p.E65*	p.E97*	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	2	526	+			97						Nonsense_Mutation	SNP	ENST00000318881.6	37	c.289G>T	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	35	5.510692	0.96386	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	.	.	.	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	17.8445	0.88725	0.0:0.0:1.0:0.0	.	.	.	.	X	65;97	.	ENSP00000324419:E97X	E	+	1	0	SYT9	7280989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.692000	0.91284	2.808000	0.96608	0.655000	0.94253	GAG		0.547	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		5	67	1	0	0.000602214	1	0.000631591	5	67					T	7324413	G	T	7324413	4	4	495	1	0	0	0	0	0	1	0	0	15478	1175	41	5	295	5	SYT9	11	7324413	Nonsense_Mutation	SNP	G	TCGA-ZG-A9MC-01A-31D-A41K-08		7324413	127682103	18	32831											
PTPN5	84867	broad.mit.edu	37	chr11	18765711	18765711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcctggagcccttcagcctCgtccagtgcctccatcacta	6	10	8	17	1	2	0	2	0	0	0	6	1	5	1	6	1	3	0	6	1	1	2			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr11:18765711C>T	ENST00000358540.2	-	4	563	c.133G>A	c.(133-135)Gag>Aag	p.E45K	PTPN5_ENST00000477854.1_5'Flank|PTPN5_ENST00000396168.1_Missense_Mutation_p.E21K|PTPN5_ENST00000396170.1_Missense_Mutation_p.E45K|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396167.2_Missense_Mutation_p.E45K|PTPN5_ENST00000396171.4_Missense_Mutation_p.E45K	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	45					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CCTTCAGCCTCGTCCAGTGCC	0.672																																						ENST00000396170.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						c.(133-135)Gag>Aag		protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)							89	89	89					11																	18765711		2199	4293	6492	SO:0001583	missense	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18765711C>T	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.133G>A	11.37:g.18765711C>T	ENSP00000351342:p.Glu45Lys					PTPN5_ENST00000396167.2_Missense_Mutation_p.E45K|PTPN5_ENST00000358540.2_Missense_Mutation_p.E45K|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396168.1_Missense_Mutation_p.E21K|PTPN5_ENST00000396171.4_Missense_Mutation_p.E45K	p.E45K	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN			4	1397	-			45					B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	c.133G>A	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	C	8.518	0.868176	0.17250	.	.	ENSG00000110786	ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	T;T;T;T;T	0.04083	3.75;3.71;3.75;3.71;3.76	4.76	-2.44	0.06502	.	0.226541	0.30593	N	0.009288	T	0.02767	0.0083	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.35450	-0.9788	10	0.48119	T	0.1	.	5.5671	0.17177	0.0:0.3186:0.312:0.3694	.	45;45	P54829;B3KXG7	PTN5_HUMAN;.	K	45;45;45;45;21	ENSP00000351342:E45K;ENSP00000379473:E45K;ENSP00000379474:E45K;ENSP00000379470:E45K;ENSP00000379471:E21K	ENSP00000351342:E45K	E	-	1	0	PTPN5	18722287	0.724000	0.28038	0.906000	0.35671	0.017000	0.09413	-0.416000	0.07097	-0.334000	0.08463	-0.424000	0.05967	GAG		0.672	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		12	99	0	0	0	1	0	12	99					T	18765711	C	T	18765711	3	4	495	1	0	0	0	0	1	0	0	0	12791	893	31	2	1612	2	PTPN5	11	18765711	Missense_Mutation	SNP	C	TCGA-ZG-A9MC-01A-31D-A41K-08	11441298	18765711	116240805	19	32832											
P2RY2	5029	broad.mit.edu	37	chr11	72946198	72946198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccccagccctgccaccccgGctcgccgcaggctgggcctg	3	4	13	21	3	0	0	0	0	0	0	1	0	0	0	8	3	2	3	8	3	0	0			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr11:72946198G>A	ENST00000311131.2	+	3	1461	c.994G>A	c.(994-996)Gct>Act	p.A332T	P2RY2_ENST00000393597.2_Missense_Mutation_p.A332T|P2RY2_ENST00000393596.2_Missense_Mutation_p.A332T	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	332					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TGCCACCCCGGCTCGCCGCAG	0.637																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(994-996)Gct>Act		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						30	34	33					11																	72946198		2196	4290	6486	SO:0001583	missense	5029				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	g.chr11:72946198G>A	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.994G>A	11.37:g.72946198G>A	ENSP00000310305:p.Ala332Thr					P2RY2_ENST00000393596.2_Missense_Mutation_p.A332T|P2RY2_ENST00000393597.2_Missense_Mutation_p.A332T	p.A332T	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	1461	+			332					B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	c.994G>A	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	G	3.977	-0.007268	0.07773	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.23754	1.89;1.89;1.89	4.44	1.43	0.22495	.	0.590493	0.16049	N	0.232058	T	0.11196	0.0273	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29027	-1.0025	10	0.27785	T	0.31	.	6.8662	0.24094	0.0964:0.3373:0.5663:0.0	.	332	P41231	P2RY2_HUMAN	T	332	ENSP00000377222:A332T;ENSP00000310305:A332T;ENSP00000377221:A332T	ENSP00000310305:A332T	A	+	1	0	P2RY2	72623846	0.008000	0.16893	0.001000	0.08648	0.005000	0.04900	0.786000	0.26844	0.088000	0.17205	-0.305000	0.09177	GCT		0.637	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		3	30	0	0	0	1	0	3	30					A	72946198	G	A	72946198	3	1	495	1	0	0	0	0	1	0	0	0	11352	1203	42	3	996	3	P2RY2	11	72946198	Missense_Mutation	SNP	G	TCGA-ZG-A9MC-01A-31D-A41K-08	54180487	72946198	62060318	20	32833											
MLL2	8085	broad.mit.edu	37	chr12	49428638	49428638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgctgccctgagccatcaCtttcttgatgcctttcaaag	9	13	7	12	0	3	2	2	2	1	0	3	2	3	2	3	0	4	1	3	0	2	3	rs35087111	byFrequency	TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr12:49428638C>A	ENST00000301067.7	-	35	10311	c.10312G>T	c.(10312-10314)Gtg>Ttg	p.V3438L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3438	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.I3165fs*13(1)									TGAGCCATCACTTTCTTGATG	0.512																																						ENST00000301067.7																			1	Deletion - Frameshift(1)	p.I3165fs*13(1)	haematopoietic_and_lymphoid_tissue(1)								c.(10312-10314)Gtg>Ttg		lysine (K)-specific methyltransferase 2D							100	101	101					12																	49428638		1984	4157	6141	SO:0001583	missense	8085							g.chr12:49428638C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10312G>T	12.37:g.49428638C>A	ENSP00000301067:p.Val3438Leu						p.V3438L	NM_003482.3	NP_003473.3					35	10311	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.10312G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316526	0.60524	.	.	ENSG00000167548	ENST00000301067	D	0.88354	-2.37	5.11	5.11	0.69529	.	0.000000	0.34906	N	0.003590	D	0.93041	0.7785	L	0.52905	1.665	0.53688	D	0.999979	D	0.76494	0.999	D	0.76071	0.987	D	0.93657	0.6978	10	0.87932	D	0	.	17.6881	0.88261	0.0:1.0:0.0:0.0	.	3438	O14686	MLL2_HUMAN	L	3438	ENSP00000301067:V3438L	ENSP00000301067:V3438L	V	-	1	0	MLL2	47714905	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.768000	0.85345	2.560000	0.86352	0.655000	0.94253	GTG		0.512	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	59	1	0	5.9392e-07	1	6.54835e-07	4	59					A	49428638	C	A	49428638	3	1	495	1	0	0	0	0	1	0	0	0	9621	565	20	5	6381	5	MLL2	12	49428638	Missense_Mutation	SNP	C	TCGA-ZG-A9MC-01A-31D-A41K-08		49428638	84423257	21	32834											
NALCN	259232	broad.mit.edu	37	chr13	102029346	102029346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggatcataatcagtggcCgtggaatccgcaacatgccc	10	8	10	13	3	2	0	2	0	0	0	4	2	3	2	3	3	2	1	3	3	3	1			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr13:102029346C>T	ENST00000251127.6	-	5	518	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	NALCN_ENST00000376200.5_Missense_Mutation_p.R146Q|NALCN_ENST00000376196.3_Missense_Mutation_p.R146Q|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	146					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATCAGTGGCCGTGGAATCCG	0.398																																						ENST00000251127.6																			0				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						c.(436-438)cGg>cAg		sodium leak channel, non-selective							74	73	74					13																	102029346		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102029346C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.437G>A	13.37:g.102029346C>T	ENSP00000251127:p.Arg146Gln					NALCN_ENST00000376200.5_Missense_Mutation_p.R146Q|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R146Q	p.R146Q	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			5	518	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		146					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.437G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650370	0.87958	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98617	-5.03;-5.03;-5.03	4.92	4.92	0.64577	Ion transport (1);	0.070386	0.64402	D	0.000020	D	0.99375	0.9780	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98660	1.0683	10	0.87932	D	0	.	18.1641	0.89719	0.0:1.0:0.0:0.0	.	146;146	F2Z323;Q8IZF0	.;NALCN_HUMAN	Q	146	ENSP00000251127:R146Q;ENSP00000365367:R146Q;ENSP00000365373:R146Q	ENSP00000251127:R146Q	R	-	2	0	NALCN	100827347	1.000000	0.71417	0.998000	0.56505	0.585000	0.36419	7.487000	0.81328	2.283000	0.76528	0.650000	0.86243	CGG		0.398	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		12	51	0	0	0	1	0	12	51					T	102029346	C	T	102029346	3	4	495	1	0	0	0	0	1	0	0	0	10148	652	23	2	4939	2	NALCN	13	102029346	Missense_Mutation	SNP	C	TCGA-ZG-A9MC-01A-31D-A41K-08		102029346	13140532	22	32835											
NYNRIN	57523	broad.mit.edu	37	chr14	24884335	24884335	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcaagcagaagcctgActggcagtgggaccaggagc	10	5	13	13	0	1	2	1	1	0	1	2	4	2	4	4	3	3	2	4	3	2	0			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr14:24884335A>C	ENST00000382554.3	+	9	3698	c.3380A>C	c.(3379-3381)gAc>gCc	p.D1127A		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1127					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			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						CAGAAGCCTGACTGGCAGTGG	0.627																																						ENST00000382554.3																			0				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						c.(3379-3381)gAc>gCc		NYN domain and retroviral integrase containing							31	35	34					14																	24884335		2002	4164	6166	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884335A>C	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3380A>C	14.37:g.24884335A>C	ENSP00000371994:p.Asp1127Ala						p.D1127A	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	3698	+			1127					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.3380A>C	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.530536	0.45073	.	.	ENSG00000205978	ENST00000382554	T	0.40225	1.04	4.61	3.44	0.39384	.	.	.	.	.	T	0.29491	0.0735	N	0.25380	0.74	0.26942	N	0.966228	B	0.17667	0.023	B	0.15484	0.013	T	0.20739	-1.0266	9	0.54805	T	0.06	.	8.1041	0.30874	0.7947:0.2053:0.0:0.0	.	1127	Q9P2P1	NYNRI_HUMAN	A	1127	ENSP00000371994:D1127A	ENSP00000371994:D1127A	D	+	2	0	NYNRIN	23954175	0.764000	0.28473	0.999000	0.59377	0.964000	0.63967	1.122000	0.31295	0.768000	0.33290	0.459000	0.35465	GAC		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			5	31	0	0	0	1	0	5	31					C	24884335	A	C	24884335	3	2	495	1	0	0	0	0	1	0	0	0	10796	275	10	5	3410	5	NYNRIN	14	24884335	Missense_Mutation	SNP	A	TCGA-ZG-A9MC-01A-31D-A41K-08		24884335	82465205	23	32836											
RPUSD1	113000	broad.mit.edu	37	chr16	836244	836244	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acacactcggtgtccgtgggGatgcgcaggtagaaagcgtg	9	7	16	9	4	0	1	0	0	0	1	2	2	1	2	1	4	2	2	1	4	2	1			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr16:836244G>A	ENST00000561734.1	-	5	888	c.645C>T	c.(643-645)atC>atT	p.I215I	RPUSD1_ENST00000567114.1_Silent_p.I86I|CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000007264.2_Silent_p.I215I|CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000565809.1_3'UTR|CHTF18_ENST00000317063.6_5'Flank|MSLNL_ENST00000442466.1_5'Flank			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	215					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				TGTCCGTGGGGATGCGCAGGT	0.672																																						ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(643-645)atC>atT		RNA pseudouridylate synthase domain containing 1							80	89	86					16																	836244		2200	4300	6500	SO:0001819	synonymous_variant	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:836244G>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"RNA pseudouridylate synthase domain containing"	14173	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 40"	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.645C>T	16.37:g.836244G>A						RPUSD1_ENST00000007264.2_Silent_p.I215I|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000567114.1_Silent_p.I86I	p.I215I			Q9UJJ7	RUSD1_HUMAN			5	888	-		Hepatocellular(780;0.00335)	215					D3DU66	Silent	SNP	ENST00000561734.1	37	c.645C>T	CCDS10426.1																																																																																				0.672	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		11	72	0	0	0	1	0	11	72					A	836244	G	A	836244	2	1	495	1	0	0	0	0	0	0	0	1	13666	1164	41	3		3	RPUSD1	16	836244	Silent	SNP	G	TCGA-ZG-A9MC-01A-31D-A41K-08		836244	89518509	24	32837											
ZNF646	9726	broad.mit.edu	37	chr16	31090194	31090194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaccaggcatctatcagtGctccctctgcccgaaggagt	8	8	9	16	1	3	0	1	0	2	0	4	2	4	1	4	2	2	2	4	2	2	1			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr16:31090194G>A	ENST00000394979.2	+	1	2972	c.2549G>A	c.(2548-2550)tGc>tAc	p.C850Y	ZNF646_ENST00000300850.5_Missense_Mutation_p.C850Y			O15015	ZN646_HUMAN	zinc finger protein 646	850					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ATCTATCAGTGCTCCCTCTGC	0.632																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(2548-2550)tGc>tAc		zinc finger protein 646							80	86	84					16																	31090194		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090194G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2549G>A	16.37:g.31090194G>A	ENSP00000378429:p.Cys850Tyr					ZNF646_ENST00000300850.5_Missense_Mutation_p.C850Y	p.C850Y			O15015	ZN646_HUMAN			1	2972	+			850					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.2549G>A		.	.	.	.	.	.	.	.	.	.	G	22.3	4.275335	0.80580	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	D;D	0.99494	-6.01;-6.01	5.1	5.1	0.69264	.	.	.	.	.	D	0.99684	0.9881	H	0.95079	3.62	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.97549	1.0091	9	0.62326	D	0.03	-14.6316	17.2888	0.87150	0.0:0.0:1.0:0.0	.	850	O15015-2	.	Y	850	ENSP00000300850:C850Y;ENSP00000378429:C850Y	ENSP00000300850:C850Y	C	+	2	0	ZNF646	30997695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.700000	0.68318	2.380000	0.81148	0.563000	0.77884	TGC		0.632	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		14	70	0	0	0	1	0	14	70					A	31090194	G	A	31090194	3	1	495	1	0	0	0	0	1	0	0	0	18059	1319	46	3	2551	3	ZNF646	16	31090194	Missense_Mutation	SNP	G	TCGA-ZG-A9MC-01A-31D-A41K-08	30253950	31090194	59264559	25	32838											
SALL1	6299	broad.mit.edu	37	chr16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-																															gaggagctgccgccgccgccGctgctgctgctgctgctgct																								rs13336129|rs372299573	byFrequency	TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr16:51175656_51175658delGCT	ENST00000251020.4	-	2	508_510	c.475_477delAGC	c.(475-477)agcdel	p.S159del	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_In_Frame_Del_p.S62del	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S159G(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)			cgccgccgccgctgctgctgctg	0.631																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Missense(1)	p.S159G(1)	prostate(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						c.(184-186)del		spalt-like transcription factor 1																																				SO:0001651	inframe_deletion	6299				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	g.chr16:51175656_51175658delGCT	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.475_477delAGC	16.37:g.51175665_51175667delGCT	ENSP00000251020:p.Ser159del					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del	p.S62del	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	615_617	-		all_cancers(37;0.0322)	159					Q99881|Q9NSC3|Q9P1R0	In_Frame_Del	DEL	ENST00000251020.4	37	c.184_186delAGC	CCDS10747.1																																																																																				0.631	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		7	50						7	50	---	---	---	---	-	51175658	GCT	-	51175656	7	5	495	1	0	1	0	1	0	0	0	0	13810	1078	38	0	3505	0	SALL1	16	51175656	In_Frame_Del	DEL	GCT	TCGA-ZG-A9MC-01A-31D-A41K-08	20085462	51175656	39179097	26	32839											
MED11	400569	broad.mit.edu	37	chr17	4635145	4635145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggcggcggccttcaccGcttcagtgcaacacgtggag	7	6	15	13	4	2	0	2	0	0	0	2	1	2	1	2	5	2	3	2	5	1	2	rs559815092		TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr17:4635145G>A	ENST00000293777.5	+	2	216	c.160G>A	c.(160-162)Gct>Act	p.A54T	CXCL16_ENST00000576153.1_5'Flank|MED11_ENST00000573708.1_Missense_Mutation_p.A54T|RP11-314A20.5_ENST00000570493.2_RNA|MED11_ENST00000575284.1_Missense_Mutation_p.A54T	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	54						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						GGCCTTCACCGCTTCAGTGCA	0.627											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0	0	5008	,	,		12439	0		0	False		,,,				2504	0.001					ENST00000293777.5																			0				lung(2)|ovary(2)	4						c.(160-162)Gct>Act		mediator complex subunit 11							35	39	37					17																	4635145		2203	4300	6503	SO:0001583	missense	400569				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding	g.chr17:4635145G>A	AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086		ENST00000293777.5:c.160G>A	17.37:g.4635145G>A	ENSP00000293777:p.Ala54Thr		OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620	MED11_ENST00000573708.1_Missense_Mutation_p.A54T|RP11-314A20.5_ENST00000570493.2_RNA|MED11_ENST00000575284.1_Missense_Mutation_p.A54T	p.A54T	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN			2	216	+			54					Q6NS89	Missense_Mutation	SNP	ENST00000293777.5	37	c.160G>A	CCDS32533.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413674	0.62511	.	.	ENSG00000161920	ENST00000293777	.	.	.	5.79	3.65	0.41850	.	0.312617	0.28952	N	0.013617	T	0.18635	0.0447	N	0.04508	-0.205	0.29040	N	0.885178	B	0.12630	0.006	B	0.04013	0.001	T	0.12528	-1.0544	9	0.21014	T	0.42	-0.2087	8.7237	0.34456	0.0862:0.0:0.7374:0.1763	.	54	Q9P086	MED11_HUMAN	T	54	.	ENSP00000293777:A54T	A	+	1	0	MED11	4581894	0.718000	0.27976	0.984000	0.44739	0.960000	0.62799	0.888000	0.28268	1.411000	0.46957	0.655000	0.94253	GCT		0.627	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		5	32	0	0	0	1	0	5	32					A	4635145	G	A	4635145	3	1	495	1	0	0	0	0	1	0	0	0	9427	1087	38	1	166	1	MED11	17	4635145	Missense_Mutation	SNP	G	TCGA-ZG-A9MC-01A-31D-A41K-08		4635145	76560065	27	32840											
PIP4K2B	8396	broad.mit.edu	37	chr17	36936728	36936728	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtatttctttaagatgtTgtgcatctccgccacgtcct	6	16	9	10	2	2	1	0	0	2	1	4	1	3	1	3	1	1	3	3	1	2	5			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr17:36936728T>C	ENST00000269554.3	-	4	964	c.484A>G	c.(484-486)Aac>Gac	p.N162D	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	162	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TTTAAGATGTTGTGCATCTCC	0.577																																						ENST00000269554.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						c.(484-486)Aac>Gac		phosphatidylinositol-5-phosphate 4-kinase, type II, beta							89	80	83					17																	36936728		2203	4300	6503	SO:0001583	missense	8396				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	g.chr17:36936728T>C	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"phosphatidylinositol-4-phosphate 5-kinase, type II, beta"	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.484A>G	17.37:g.36936728T>C	ENSP00000269554:p.Asn162Asp					PIP4K2B_ENST00000311500.6_5'UTR	p.N162D	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN			4	964	-			162			PIPK.		Q5U0E8|Q8TBP2	Missense_Mutation	SNP	ENST00000269554.3	37	c.484A>G	CCDS11329.1	.	.	.	.	.	.	.	.	.	.	T	33	5.239871	0.95240	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	T	0.29142	1.58	5.21	5.21	0.72293	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.087784	0.85682	D	0.000000	T	0.41351	0.1155	L	0.52905	1.665	0.80722	D	1	B;B;P	0.42993	0.285;0.242;0.797	B;B;P	0.49999	0.302;0.341;0.628	T	0.23583	-1.0184	10	0.51188	T	0.08	-34.7467	14.0446	0.64698	0.0:0.0:0.0:1.0	.	162;162;162	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	D	162	ENSP00000269554:N162D	ENSP00000269554:N162D	N	-	1	0	PIP4K2B	34190254	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.819000	0.69243	2.193000	0.70182	0.459000	0.35465	AAC		0.577	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		7	81	0	0	0	1	0	7	81					C	36936728	T	C	36936728	3	2	495	1	0	0	0	0	1	0	0	0	11937	1812	63	4	794	4	PIP4K2B	17	36936728	Missense_Mutation	SNP	T	TCGA-ZG-A9MC-01A-31D-A41K-08	32301583	36936728	44258482	28	32841											
MPP3	4356	broad.mit.edu	37	chr17	41879198	41879198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctaccaggtgcccgtaatgCcggtctatgaaggcggcaga	9	8	13	11	3	2	2	0	1	2	1	2	2	2	2	3	4	3	2	3	4	4	3			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr17:41879198C>T	ENST00000398389.4	-	20	1794	c.1629G>A	c.(1627-1629)cgG>cgA	p.R543R	MPP3_ENST00000398393.1_Silent_p.R568R	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	543	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GCCCGTAATGCCGGTCTATGA	0.547																																						ENST00000398393.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1702-1704)cgG>cgA		membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)							85	80	82					17																	41879198		1919	4141	6060	SO:0001819	synonymous_variant	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41879198C>T		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 3", "discs, large (Drosophila) homolog 3", "membrane protein palmitoylated 3"	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1629G>A	17.37:g.41879198C>T						MPP3_ENST00000398389.4_Silent_p.R543R	p.R568R			Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	18	1964	-		Breast(137;0.00394)	543			Guanylate kinase-like.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Silent	SNP	ENST00000398389.4	37	c.1704G>A	CCDS42344.1																																																																																				0.547	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		4	91	0	0	0	1	0	4	91					T	41879198	C	T	41879198	2	4	495	1	0	0	0	0	0	0	0	1	9735	726	26	3		3	MPP3	17	41879198	Silent	SNP	C	TCGA-ZG-A9MC-01A-31D-A41K-08	4942470	41879198	39316012	29	32842											
NFATC1	4772	broad.mit.edu	37	chr18	77170874	77170874	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgtacccgtacgcgtcccCccagacgtcgccatggcagt	6	7	10	18	6	0	1	0	0	0	1	3	1	1	1	5	1	2	3	5	1	2	2			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr18:77170874C>A	ENST00000427363.2	+	2	599	c.599C>A	c.(598-600)cCc>cAc	p.P200H	NFATC1_ENST00000542384.1_Missense_Mutation_p.P200H|NFATC1_ENST00000591814.1_Missense_Mutation_p.P200H|NFATC1_ENST00000329101.4_Missense_Mutation_p.P187H|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Missense_Mutation_p.P200H|NFATC1_ENST00000318065.5_Missense_Mutation_p.P187H|NFATC1_ENST00000592223.1_Missense_Mutation_p.P187H|NFATC1_ENST00000586434.1_Missense_Mutation_p.P187H|NFATC1_ENST00000587635.1_Missense_Mutation_p.P200H|NFATC1_ENST00000397790.2_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	200	Trans-activation domain A (TAD-A).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	TACGCGTCCCCCCAGACGTCG	0.687																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(598-600)cCc>cAc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							67	71	70					18																	77170874		2202	4299	6501	SO:0001583	missense	4772				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	g.chr18:77170874C>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.599C>A	18.37:g.77170874C>A	ENSP00000389377:p.Pro200His					NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.P187H|NFATC1_ENST00000542384.1_Missense_Mutation_p.P200H|NFATC1_ENST00000427363.2_Missense_Mutation_p.P200H|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.P200H|NFATC1_ENST00000329101.4_Missense_Mutation_p.P187H|NFATC1_ENST00000592223.1_Missense_Mutation_p.P187H|NFATC1_ENST00000591814.1_Missense_Mutation_p.P200H|NFATC1_ENST00000586434.1_Missense_Mutation_p.P187H	p.P200H	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	968	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	200			Trans-activation domain A (TAD-A).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.599C>A		.	.	.	.	.	.	.	.	.	.	C	17.72	3.458827	0.63401	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.76060	-0.99;-0.99;-0.99	4.78	3.9	0.45041	.	0.054440	0.85682	D	0.000000	D	0.84183	0.5416	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999	D	0.85805	0.1376	10	0.87932	D	0	-34.684	12.9292	0.58276	0.0:0.9214:0.0:0.0786	.	187;187;200;200;200;187;200	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	H	200;200;200;187;187;164	ENSP00000253506:P200H;ENSP00000442435:P200H;ENSP00000327850:P187H	ENSP00000253506:P200H	P	+	2	0	NFATC1	75271862	1.000000	0.71417	0.987000	0.45799	0.566000	0.35808	7.371000	0.79600	1.214000	0.43395	0.561000	0.74099	CCC		0.687	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		8	88	1	0	0.0477658	1	0.0477658	8	88					A	77170874	C	A	77170874	3	1	495	1	0	0	0	0	1	0	0	0	10361	623	22	5	697	5	NFATC1	18	77170874	Missense_Mutation	SNP	C	TCGA-ZG-A9MC-01A-31D-A41K-08		77170874	906374	30	32843											
TNPO2	30000	broad.mit.edu	37	chr19	12826131	12826131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttcacgcaggcgatggCgtgggacctggcggggagca	6	6	19	10	4	1	0	1	0	0	0	1	3	1	2	1	7	1	3	1	7	0	1			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr19:12826131C>T	ENST00000592287.1	-	7	682	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	TNPO2_ENST00000441499.1_Missense_Mutation_p.A192T|TNPO2_ENST00000356861.5_Missense_Mutation_p.A192T|TNPO2_ENST00000450764.2_Missense_Mutation_p.A192T|TNPO2_ENST00000425528.1_Missense_Mutation_p.A192T|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000588216.1_Missense_Mutation_p.A192T	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	192					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGGCGATGGCGTGGGACCTG	0.667																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(574-576)Gcc>Acc		transportin 2							31	35	34					19																	12826131		2009	4165	6174	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12826131C>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.574G>A	19.37:g.12826131C>T	ENSP00000468434:p.Ala192Thr					TNPO2_ENST00000588216.1_Missense_Mutation_p.A192T|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000356861.5_Missense_Mutation_p.A192T|TNPO2_ENST00000450764.2_Missense_Mutation_p.A192T|TNPO2_ENST00000441499.1_Missense_Mutation_p.A192T|TNPO2_ENST00000592287.1_Missense_Mutation_p.A192T	p.A192T			O14787	TNPO2_HUMAN			8	931	-			192					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.574G>A	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	34	5.411946	0.96072	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87241	0.6128	M	0.93016	3.37	0.80722	D	1	D;D	0.67145	0.996;0.986	P;P	0.54889	0.763;0.515	D	0.90263	0.4302	10	0.87932	D	0	-0.0039	18.4471	0.90688	0.0:1.0:0.0:0.0	.	356;192	Q4LE60;O14787	.;TNPO2_HUMAN	T	356;192;192;192;192;192;192	ENSP00000407182:A192T;ENSP00000389648:A192T;ENSP00000397379:A192T;ENSP00000349321:A192T	ENSP00000349321:A192T	A	-	1	0	TNPO2	12687131	1.000000	0.71417	0.990000	0.47175	0.849000	0.48306	7.202000	0.77856	2.655000	0.90218	0.555000	0.69702	GCC		0.667	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		3	29	0	0	0	1	0	3	29					T	12826131	C	T	12826131	3	4	495	1	0	0	0	0	1	0	0	0	16333	768	27	1	2191	1	TNPO2	19	12826131	Missense_Mutation	SNP	C	TCGA-ZG-A9MC-01A-31D-A41K-08		12826131	46302852	31	32844											
RYR1	6261	broad.mit.edu	37	chr19	38976472	38976472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaagtgcctgccgcagccGccgctccatgctctctgaat	7	8	10	16	4	1	1	0	1	1	0	3	2	2	1	5	0	4	3	5	0	2	0			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr19:38976472G>A	ENST00000359596.3	+	34	5177	c.5177G>A	c.(5176-5178)cGc>cAc	p.R1726H	RYR1_ENST00000360985.3_Missense_Mutation_p.R1726H|RYR1_ENST00000355481.4_Missense_Mutation_p.R1726H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1726	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			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)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGCCGCAGCCGCCGCTCCATG	0.647																																						ENST00000355481.4																			0				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						c.(5176-5178)cGc>cAc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						66	68	67					19																	38976472		2203	4300	6503	SO:0001583	missense	6261				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	g.chr19:38976472G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5177G>A	19.37:g.38976472G>A	ENSP00000352608:p.Arg1726His					RYR1_ENST00000360985.3_Missense_Mutation_p.R1726H|RYR1_ENST00000359596.3_Missense_Mutation_p.R1726H	p.R1726H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5308	+	all_cancers(60;7.91e-06)		1726			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5177G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297450	0.60086	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.74106	-0.81;-0.81;-0.81	3.77	3.77	0.43336	.	0.000000	0.64402	U	0.000003	D	0.85168	0.5635	M	0.83483	2.645	0.43385	D	0.995496	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.966	D	0.86664	0.1906	10	0.72032	D	0.01	.	10.5817	0.45259	0.0986:0.0:0.9014:0.0	.	1726;1726	P21817-2;P21817	.;RYR1_HUMAN	H	1726	ENSP00000352608:R1726H;ENSP00000347667:R1726H;ENSP00000354254:R1726H	ENSP00000347667:R1726H	R	+	2	0	RYR1	43668312	0.937000	0.31787	1.000000	0.80357	0.996000	0.88848	0.767000	0.26575	1.934000	0.56057	0.585000	0.79938	CGC		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			8	80	0	0	0	1	0	8	80					A	38976472	G	A	38976472	3	1	495	1	0	0	0	0	1	0	0	0	13768	1087	38	1	5311	1	RYR1	19	38976472	Missense_Mutation	SNP	G	TCGA-ZG-A9MC-01A-31D-A41K-08	26150341	38976472	20152511	32	32845											
ZNF335	63925	broad.mit.edu	37	chr20	44588048	44588048	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccgtgtgctgaagtggcagTactcacaggcgaagggcttg	8	8	16	9	2	1	1	1	1	0	0	1	2	1	1	1	3	2	4	1	3	3	2	rs201140618		TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr20:44588048T>G	ENST00000322927.2	-	15	2145	c.2045A>C	c.(2044-2046)tAc>tCc	p.Y682S	ZNF335_ENST00000426788.1_Missense_Mutation_p.Y527S	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	682					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GAAGTGGCAGTACTCACAGGC	0.617																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(2044-2046)tAc>tCc		zinc finger protein 335							49	36	40					20																	44588048		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44588048T>G	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2045A>C	20.37:g.44588048T>G	ENSP00000325326:p.Tyr682Ser					ZNF335_ENST00000426788.1_Missense_Mutation_p.Y527S	p.Y682S	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			15	2145	-		Myeloproliferative disorder(115;0.0122)	682					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.2045A>C	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.036804	0.54896	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.01599	4.74;4.74	5.02	3.87	0.44632	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.189300	0.46758	D	0.000264	T	0.02083	0.0065	L	0.59436	1.845	0.35102	D	0.765299	P;P	0.37864	0.61;0.475	B;B	0.32211	0.142;0.067	T	0.53443	-0.8438	10	0.21540	T	0.41	-33.3965	9.4357	0.38637	0.2029:0.0:0.0:0.7971	.	527;682	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	S	682;459;527	ENSP00000325326:Y682S;ENSP00000397098:Y527S	ENSP00000243961:Y459S	Y	-	2	0	ZNF335	44021455	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.177000	0.50871	2.107000	0.64212	0.459000	0.35465	TAC		0.617	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		3	27	0	0	0	1	0	3	27					G	44588048	T	G	44588048	3	3	495	1	0	0	0	0	1	0	0	0	17849	1638	57	5	2039	5	ZNF335	20	44588048	Missense_Mutation	SNP	T	TCGA-ZG-A9MC-01A-31D-A41K-08		44588048	18437472	33	32846											
MXRA5	25878	broad.mit.edu	37	chrX	3228257	3228257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacgtccctgcccagcccCgggaggggtgcaggggagct	7	4	17	13	2	0	0	0	0	0	0	1	3	1	2	4	5	5	2	4	5	1	0	rs143264543	byFrequency	TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chrX:3228257C>T	ENST00000217939.6	-	7	8141	c.7987G>A	c.(7987-7989)Ggg>Agg	p.G2663R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2663	Ig-like C2-type 11.					extracellular vesicular exosome (GO:0070062)		p.G2663R(4)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCCCAGCCCCGGGAGGGGTG	0.592																																						ENST00000217939.6																			4	Substitution - Missense(4)	p.G2663R(4)	large_intestine(2)|prostate(2)	NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(7987-7989)Ggg>Agg		matrix-remodelling associated 5		C	ARG/GLY	1,3834		0,1,0,1631,571	58	56	57		7987	3.6	0	X	dbSNP_134	57	1,6726		0,0,1,2428,1870	no	missense	MXRA5	NM_015419.3	125	0,1,1,4059,2441	TT,TC,T,CC,C		0.0149,0.0261,0.0189	benign	2663/2829	3228257	2,10560	2203	4299	6502	SO:0001583	missense	25878					extracellular region		g.chrX:3228257C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7987G>A	X.37:g.3228257C>T	ENSP00000217939:p.Gly2663Arg						p.G2663R	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	8141	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2663			Ig-like C2-type 11.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.7987G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	3.724	-0.057000	0.07317	2.61E-4	1.49E-4	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.37752	1.18	4.47	3.6	0.41247	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40818	U	0.001009	T	0.49745	0.1575	H	0.94345	3.525	0.09310	N	1	B	0.31227	0.314	B	0.25140	0.058	T	0.53208	-0.8471	10	0.59425	D	0.04	.	14.3756	0.66874	0.0:0.6168:0.3831:0.0	.	2663	Q9NR99	MXRA5_HUMAN	R	2663	ENSP00000217939:G2663R	ENSP00000217939:G2663R	G	-	1	0	MXRA5	3238257	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.390000	0.20768	0.713000	0.32060	0.597000	0.82753	GGG		0.592	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		5	27	0	0	0	1	0	5	27					T	3228257	C	T	3228257	3	4	495	1	0	0	0	0	1	0	0	0	10003	652	23	2	503	2	MXRA5	23	3228257	Missense_Mutation	SNP	C	TCGA-ZG-A9MC-01A-31D-A41K-08		3228257	152042303	34	32847											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-																															ctggttgggtttgcacttcaTcctcgaggcagcctcctcga																								rs78182391		TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			5	2						5	2	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	495	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-ZG-A9MC-01A-31D-A41K-08	48011039	51239296	104031264	35	32848											
SPANXN5	494197	broad.mit.edu	37	chrX	52825634	52825634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatctttttcaaactcGgttcgaggactaagtccctg	8	16	7	10	2	3	0	2	0	1	0	6	2	4	1	1	2	1	1	1	2	2	6	rs150967779	byFrequency	TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chrX:52825634G>A	ENST00000375511.3	-	2	865	c.113C>T	c.(112-114)cCg>cTg	p.P38L		NM_001009616.3	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	38										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					TTTCAAACTCGGTTCGAGGAC	0.393																																						ENST00000375511.3																			0				large_intestine(1)|lung(5)|skin(2)	8						c.(112-114)cCg>cTg		SPANX family, member N5							173	148	156					X																	52825634		2203	4300	6503	SO:0001583	missense	494197							g.chrX:52825634G>A		CCDS35295.1	Xp11.22	2009-03-25				ENSG00000204363			33178	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 10"	300668				14973187, 17012309	Standard	NM_001009616		Approved	SPANX-N5, CT11.10	uc004drc.1	Q5MJ07		ENST00000375511.3:c.113C>T	X.37:g.52825634G>A	ENSP00000364661:p.Pro38Leu						p.P38L	NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN			2	865	-	Ovarian(276;0.236)		38						Missense_Mutation	SNP	ENST00000375511.3	37	c.113C>T	CCDS35295.1	.	.	.	.	.	.	.	.	.	.	g	4.512	0.094908	0.08681	.	.	ENSG00000204363	ENST00000375511	T	0.08634	3.07	0.122	0.122	0.14702	.	.	.	.	.	T	0.05410	0.0143	.	.	.	0.09310	N	1	P	0.43412	0.806	B	0.34931	0.192	T	0.34775	-0.9815	7	0.59425	D	0.04	.	.	.	.	.	38	Q5MJ07	SPXN5_HUMAN	L	38	ENSP00000364661:P38L	ENSP00000364661:P38L	P	-	2	0	SPANXN5	52842359	0.039000	0.19947	0.041000	0.18516	0.041000	0.13682	0.227000	0.17795	0.180000	0.19960	0.182000	0.17080	CCG		0.393	SPANXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056690.2	NM_001009616		11	46	0	0	0	1	0	11	46					A	52825634	G	A	52825634	3	1	495	1	0	0	0	0	1	0	0	0	14993	1116	39	2	109	2	SPANXN5	23	52825634	Missense_Mutation	SNP	G	TCGA-ZG-A9MC-01A-31D-A41K-08	1586338	52825634	102444926	36	32849											
SRPK3	26576	broad.mit.edu	37	chrX	153049636	153049636	+	Frame_Shift_Del	DEL	A	A	-																															cctctccggctcgtccaatcAgcgagagaccgggggcctcc																										TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chrX:153049636delA	ENST00000370101.3	+	10	1161	c.1115delA	c.(1114-1116)cagfs	p.Q372fs	SRPK3_ENST00000370104.1_Frame_Shift_Del_p.Q371fs|SRPK3_ENST00000489426.1_Frame_Shift_Del_p.Q439fs|SRPK3_ENST00000370108.3_Frame_Shift_Del_p.Q339fs|IDH3G_ENST00000497043.1_5'Flank|SRPK3_ENST00000370100.1_Frame_Shift_Del_p.Q297fs|SRPK3_ENST00000393786.3_Frame_Shift_Del_p.Q338fs	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	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)					TCGTCCAATCAGCGAGAGACC	0.662																																					Esophageal Squamous(167;766 3400 32156)	ENST00000489426.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13						c.(1315-1317)cgfs		SRSF protein kinase 3							38	37	38					X																	153049636		2202	4300	6502	SO:0001589	frameshift_variant	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153049636delA	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"serine/threonine kinase 23", "SFRS protein kinase 3"	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.1115delA	X.37:g.153049636delA	ENSP00000359119:p.Gln372fs					SRPK3_ENST00000370101.3_Frame_Shift_Del_p.Q372fs|SRPK3_ENST00000370104.1_Frame_Shift_Del_p.Q371fs|SRPK3_ENST00000370108.3_Frame_Shift_Del_p.Q339fs|SRPK3_ENST00000370100.1_Frame_Shift_Del_p.Q297fs|SRPK3_ENST00000393786.3_Frame_Shift_Del_p.Q338fs	p.Q439fs			Q9UPE1	SRPK3_HUMAN			16	3682	+	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)		372			Protein kinase.		Q13583|Q4F970|Q562F5|Q9UM62	Frame_Shift_Del	DEL	ENST00000370101.3	37	c.1316delA	CCDS35441.1																																																																																				0.662	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370		8	31						8	31	---	---	---	---	-	153049636	A	-	153049636	7	5	495	1	0	1	0	1	0	0	0	0	15160	188	7	0	1153	0	SRPK3	23	153049636	Frame_Shift_Del	DEL	A	TCGA-ZG-A9MC-01A-31D-A41K-08	100224002	153049636	2220924	37	32850											
PTCHD2	57540	broad.mit.edu	37	chr1	11596383	11596383	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctcttgcccccaggaCgcccgaacgcagcgccagtg	6	6	10	19	4	2	0	0	0	2	0	3	2	2	1	5	1	3	1	5	1	1	1			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr1:11596383C>T	ENST00000294484.6	+	21	3957	c.3819C>T	c.(3817-3819)gaC>gaT	p.D1273D	PTCHD2_ENST00000304391.6_Missense_Mutation_p.R160C|PTCHD2_ENST00000389575.3_Silent_p.D1273D	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1273					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCCCCAGGACGCCCGAACGC	0.716																																						ENST00000304391.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(478-480)Cgc>Tgc		patched domain containing 2							27	29	28					1																	11596383		2117	4205	6322	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11596383C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3819C>T	1.37:g.11596383C>T						PTCHD2_ENST00000389575.3_Silent_p.D1273D|PTCHD2_ENST00000294484.6_Silent_p.D1273D	p.R160C			Q9P2K9	PTHD2_HUMAN		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)	5	596	+	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)	0					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.478C>T	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256446	0.39896	.	.	ENSG00000204624	ENST00000304391	.	.	.	4.89	-0.254	0.12992	.	.	.	.	.	T	0.63046	0.2478	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62081	-0.6929	5	0.87932	D	0	-25.8306	9.058	0.36416	0.0:0.5532:0.0:0.4468	.	.	.	.	C	160	.	ENSP00000303400:R160C	R	+	1	0	PTCHD2	11518970	0.000000	0.05858	0.024000	0.17045	0.053000	0.15095	-0.539000	0.06113	-0.358000	0.08162	-0.812000	0.03155	CGC		0.716	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		9	9	0	0	0	1	0	9	9					T	11596383	C	T	11596383	2	4	496	1	0	0	0	0	0	0	0	1	12733	535	19	1		1	PTCHD2	1	11596383	Silent	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08		11596383	237654238	1	32851											
TRIM33	51592	broad.mit.edu	37	chr1	115006111	115006111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttcgatacatgtcttaCatagccactctccacattct	9	14	5	13	1	3	0	0	0	3	0	5	1	3	0	2	0	4	1	2	0	3	5			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr1:115006111C>T	ENST00000358465.2	-	3	796	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TRIM33_ENST00000369543.2_Missense_Mutation_p.C238Y|TRIM33_ENST00000450349.2_5'Flank	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	238					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			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)		ACATGTCTTACATAGCCACTC	0.343			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	" tripartite motif-containing 33 (PTC7,TIF1G)"			E	RET		papillary thyroid		0				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						c.(712-714)tGt>tAt		tripartite motif containing 33							143	132	136					1																	115006111		2203	4300	6503	SO:0001583	missense	51592				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	g.chr1:115006111C>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.713G>A	1.37:g.115006111C>T	ENSP00000351250:p.Cys238Tyr					TRIM33_ENST00000369543.2_Missense_Mutation_p.C238Y	p.C238Y	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		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)	3	796	-	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)	238					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.713G>A	CCDS872.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450340	0.84101	.	.	ENSG00000197323	ENST00000358465;ENST00000369543	D;D	0.99080	-5.4;-5.4	5.67	5.67	0.87782	Zinc finger, RING-type (1);Zinc finger, B-box (3);	0.000000	0.85682	D	0.000000	D	0.99594	0.9853	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.994;1.0	D	0.98130	1.0430	10	0.87932	D	0	-7.5756	19.7863	0.96440	0.0:1.0:0.0:0.0	.	238;238	Q9UPN9-2;Q9UPN9	.;TRI33_HUMAN	Y	238	ENSP00000351250:C238Y;ENSP00000358556:C238Y	ENSP00000351250:C238Y	C	-	2	0	TRIM33	114807634	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.700000	0.84556	2.665000	0.90641	0.655000	0.94253	TGT		0.343	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		29	73	0	0	0	1	0	29	73					T	115006111	C	T	115006111	3	4	496	1	0	0	0	0	1	0	0	0	16504	478	17	3	2742	3	TRIM33	1	115006111	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	103409728	115006111	134244510	2	32852											
HRNR	388697	broad.mit.edu	37	chr1	152187070	152187070	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggactgccatgagctagaCtcgtggtgaccaaatccaga	12	7	12	10	1	0	4	0	2	0	2	2	6	1	5	3	2	2	1	3	2	2	1			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr1:152187070C>T	ENST00000368801.2	-	3	7110	c.7035G>A	c.(7033-7035)gaG>gaA	p.E2345E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2345					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGAGCTAGACTCGTGGTGAC	0.562																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(7033-7035)gaG>gaA		hornerin							460	722	634					1																	152187070		2184	4297	6481	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187070C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7035G>A	1.37:g.152187070C>T						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.E2345E	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7110	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2345					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.7035G>A	CCDS30859.1																																																																																				0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		13	1389	0	0	0	1	0	13	1389					T	152187070	C	T	152187070	2	4	496	1	0	0	0	0	0	0	0	1	7359	564	20	3		3	HRNR	1	152187070	Silent	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	37180959	152187070	97063551	3	32853											
GON4L	54856	broad.mit.edu	37	chr1	155735541	155735541	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggttctaggccctgaaaGgcattttccccatcagccac	8	11	9	13	0	2	1	1	1	1	0	3	1	3	1	4	3	1	2	4	3	2	5			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr1:155735541G>C	ENST00000368331.1	-	21	3771	c.3723C>G	c.(3721-3723)gcC>gcG	p.A1241A	GON4L_ENST00000361040.5_Silent_p.A1241A|GON4L_ENST00000437809.1_Silent_p.A1241A|GON4L_ENST00000271883.5_Silent_p.A1241A|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1241					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			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)					GGCCCTGAAAGGCATTTTCCC	0.502																																						ENST00000437809.1																			0				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						c.(3721-3723)gcC>gcG		gon-4-like (C. elegans)							75	77	76					1																	155735541		2203	4298	6501	SO:0001819	synonymous_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155735541G>C	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3723C>G	1.37:g.155735541G>C						GON4L_ENST00000368331.1_Silent_p.A1241A|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Silent_p.A1241A|GON4L_ENST00000361040.5_Silent_p.A1241A	p.A1241A			Q3T8J9	GON4L_HUMAN			21	3845	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1241					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.3723C>G																																																																																					0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		13	56	0	0	0	1	0	13	56					C	155735541	G	C	155735541	2	2	496	1	0	0	0	0	0	0	0	1	6572	987	35	5		5	GON4L	1	155735541	Silent	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08	3548471	155735541	93515080	4	32854											
CD1C	911	broad.mit.edu	37	chr1	158261881	158261881	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttcctccagatcccttTgaagtacaggtgaaagcggg	9	10	10	12	1	0	3	0	2	0	1	4	3	4	3	4	2	2	1	4	2	3	3			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr1:158261881T>C	ENST00000368170.3	+	3	615	c.336T>C	c.(334-336)ttT>ttC	p.F112F		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	112					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CAGATCCCTTTGAAGTACAGG	0.428																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(334-336)ttT>ttC		CD1c molecule							70	75	73					1																	158261881		2203	4300	6503	SO:0001819	synonymous_variant	911				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	g.chr1:158261881T>C	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.336T>C	1.37:g.158261881T>C							p.F112F	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			3	615	+	all_hematologic(112;0.0378)		112					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Silent	SNP	ENST00000368170.3	37	c.336T>C	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	2.588	-0.295973	0.05532	.	.	ENSG00000158481	ENST00000443761	.	.	.	3.81	-4.05	0.03998	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.433	0.16464	0.0:0.2054:0.4876:0.3069	.	.	.	.	R	47	.	.	X	+	1	0	CD1C	156528505	0.013000	0.17824	0.000000	0.03702	0.000000	0.00434	0.254000	0.18314	-0.469000	0.06911	-1.187000	0.01702	TGA		0.428	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		39	58	0	0	0	1	0	39	58					C	158261881	T	C	158261881	2	2	496	1	0	0	0	0	0	0	0	1	2976	1809	63	4		4	CD1C	1	158261881	Silent	SNP	T	TCGA-ZG-A9N3-01A-11D-A41K-08	2526340	158261881	90988740	5	32855											
HEATR1	55127	broad.mit.edu	37	chr1	236746154	236746154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttctttcagttgttcaGgattccaccatatatcacct	8	17	5	11	0	5	0	3	0	2	0	6	1	6	1	3	1	0	2	3	1	2	7			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr1:236746154G>A	ENST00000366582.3	-	19	2558	c.2444C>T	c.(2443-2445)cCt>cTt	p.P815L	HEATR1_ENST00000366581.2_Missense_Mutation_p.P815L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	815					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			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)			CAGTTGTTCAGGATTCCACCA	0.433																																						ENST00000366582.3																			0				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						c.(2443-2445)cCt>cTt		HEAT repeat containing 1							141	112	122					1																	236746154		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236746154G>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2444C>T	1.37:g.236746154G>A	ENSP00000355541:p.Pro815Leu					HEATR1_ENST00000366581.2_Missense_Mutation_p.P815L	p.P815L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		19	2558	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	815					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.2444C>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251710	0.80135	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.07021	3.29;3.23	5.62	4.71	0.59529	Armadillo-type fold (1);	0.052365	0.85682	N	0.000000	T	0.27454	0.0674	M	0.72894	2.215	0.80722	D	1	B;D	0.89917	0.125;1.0	B;D	0.73708	0.028;0.981	T	0.01666	-1.1300	10	0.66056	D	0.02	.	14.2715	0.66154	0.0713:0.0:0.9287:0.0	.	815;815	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	L	815	ENSP00000355541:P815L;ENSP00000355540:P815L	ENSP00000355540:P815L	P	-	2	0	HEATR1	234812777	1.000000	0.71417	0.925000	0.36789	0.951000	0.60555	4.449000	0.60034	1.375000	0.46248	0.655000	0.94253	CCT		0.433	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		5	30	0	0	0	1	0	5	30					A	236746154	G	A	236746154	3	1	496	1	0	0	0	0	1	0	0	0	7027	1000	35	3	4098	3	HEATR1	1	236746154	Missense_Mutation	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08	78484273	236746154	12504467	6	32856											
CAPN13	92291	broad.mit.edu	37	chr2	30957343	30957343	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatggccttccacaagtcCgagctcaggaggactccagg	9	8	11	13	1	2	0	1	0	1	0	5	3	5	2	4	4	1	1	4	4	2	2			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr2:30957343C>T	ENST00000295055.8	-	19	1946	c.1770G>A	c.(1768-1770)tcG>tcA	p.S590S	CAPN13_ENST00000534090.2_Silent_p.S590S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	590					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCCACAAGTCCGAGCTCAGGA	0.542																																						ENST00000295055.8																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(1768-1770)tcG>tcA		calpain 13							77	83	81					2																	30957343		1891	4126	6017	SO:0001819	synonymous_variant	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30957343C>T		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1770G>A	2.37:g.30957343C>T						CAPN13_ENST00000534090.2_Silent_p.S590S	p.S590S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			19	1946	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		590					Q17RF0|Q580X1|Q8TE80	Silent	SNP	ENST00000295055.8	37	c.1770G>A	CCDS46252.1																																																																																				0.542	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		3	19	0	0	0	1	0	3	19					T	30957343	C	T	30957343	2	4	496	1	0	0	0	0	0	0	0	1	2626	639	23	2		2	CAPN13	2	30957343	Silent	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08		30957343	212242030	7	32857											
XIRP2	129446	broad.mit.edu	37	chr2	168102424	168102424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctattatggaagcacataaaGgtatcacaaaaatgaccaag	19	8	7	7	0	1	1	1	1	0	0	1	2	1	2	1	2	1	2	1	2	9	4			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr2:168102424G>T	ENST00000409195.1	+	9	4611	c.4522G>T	c.(4522-4524)Ggt>Tgt	p.G1508C	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G1286C|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G1508C|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1333					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				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						AGCACATAAAGGTATCACAAA	0.388																																						ENST00000409195.1																			0				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						c.(4522-4524)Ggt>Tgt		xin actin-binding repeat containing 2							82	74	77					2																	168102424		1895	4121	6016	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102424G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4522G>T	2.37:g.168102424G>T	ENSP00000386840:p.Gly1508Cys					XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G1508C|XIRP2_ENST00000409273.1_Missense_Mutation_p.G1286C	p.G1508C	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	4611	+			1333					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4522G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	1.196	-0.633939	0.03584	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02472	4.28;4.28;4.28	5.56	1.35	0.21983	.	0.613857	0.17877	N	0.158963	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	P;P;P	0.42649	0.681;0.786;0.683	B;P;B	0.46339	0.315;0.513;0.326	T	0.48445	-0.9035	10	0.46703	T	0.11	-0.3625	6.434	0.21813	0.7173:0.0:0.1564:0.1263	.	1333;1333;1286	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	C	1508;1508;1286	ENSP00000386840:G1508C;ENSP00000295237:G1508C;ENSP00000387255:G1286C	ENSP00000295237:G1508C	G	+	1	0	XIRP2	167810670	0.002000	0.14202	0.258000	0.24420	0.010000	0.07245	1.480000	0.35464	0.400000	0.25396	-0.471000	0.05019	GGT		0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		23	49	1	0	3.85864e-22	1	4.55122e-22	23	49					T	168102424	G	T	168102424	3	4	496	1	0	0	0	0	1	0	0	0	17427	1000	35	5	4552	5	XIRP2	2	168102424	Missense_Mutation	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08	137145081	168102424	75096949	8	32858											
TTN	7273	broad.mit.edu	37	chr2	179469794	179469794	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagtgcctttgtcctccCggaccgctttgggaatgcta	6	13	11	11	2	0	0	0	0	0	0	2	2	2	2	4	2	2	3	4	2	3	4	rs541688627		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr2:179469794C>A	ENST00000591111.1	-	230	49411	c.49187G>T	c.(49186-49188)cGg>cTg	p.R16396L	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18037L|TTN_ENST00000342175.6_Missense_Mutation_p.R9164L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15469L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9097L|TTN_ENST00000460472.2_Missense_Mutation_p.R8972L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16396	Ig-like 100.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			TTTGTCCTCCCGGACCGCTTT	0.448																																						ENST00000589042.1																			0				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						c.(54109-54111)cGg>cTg		titin							244	228	233					2																	179469794		1923	4124	6047	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179469794C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49187G>T	2.37:g.179469794C>A	ENSP00000465570:p.Arg16396Leu					TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9097L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9164L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16396L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15469L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8972L	p.R18037L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		280	54334	-			16396					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.54110G>T		.	.	.	.	.	.	.	.	.	.	C	14.24	2.475524	0.43942	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61451	0.2348	L	0.46614	1.455	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.61510	-0.7048	9	0.87932	D	0	.	20.0118	0.97458	0.0:1.0:0.0:0.0	.	8972;9097;9164;16396	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	15469;8972;9164;9097;8972	ENSP00000343764:R15469L;ENSP00000434586:R8972L;ENSP00000340554:R9164L;ENSP00000352154:R9097L	ENSP00000340554:R9164L	R	-	2	0	TTN	179178039	1.000000	0.71417	0.225000	0.23894	0.667000	0.39255	7.770000	0.85390	2.744000	0.94065	0.563000	0.77884	CGG		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	128	1	0	3.59834e-05	1	4.087e-05	6	128					A	179469794	C	A	179469794	3	1	496	1	0	0	0	0	1	0	0	0	16732	652	23	5	53915	5	TTN	2	179469794	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	11367370	179469794	63729579	9	32859											
MYRIP	25924	broad.mit.edu	37	chr3	40231802	40231802	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacccccagttggccagcAgggagacctcggacagcagc	10	4	12	15	1	1	1	1	0	0	1	2	3	1	2	4	3	4	3	4	3	1	1			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr3:40231802A>G	ENST00000302541.6	+	10	1855	c.1513A>G	c.(1513-1515)Agg>Ggg	p.R505G	MYRIP_ENST00000444716.1_Missense_Mutation_p.R505G|MYRIP_ENST00000425621.1_Missense_Mutation_p.R505G|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.R318G|MYRIP_ENST00000396217.3_Missense_Mutation_p.R416G	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	505	Actin-binding.|Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			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)		GTTGGCCAGCAGGGAGACCTC	0.647																																						ENST00000302541.6																			0				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						c.(1513-1515)Agg>Ggg		myosin VIIA and Rab interacting protein							63	70	67					3																	40231802		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40231802A>G	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1513A>G	3.37:g.40231802A>G	ENSP00000301972:p.Arg505Gly					MYRIP_ENST00000444716.1_Missense_Mutation_p.R505G|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.R416G|MYRIP_ENST00000539167.1_Missense_Mutation_p.R318G|MYRIP_ENST00000425621.1_Missense_Mutation_p.R505G	p.R505G	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	10	1855	+			505			Actin-binding.|Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.1513A>G	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	A	3.834	-0.035135	0.07543	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13	5.94	-2.93	0.05598	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	1.381220	0.04269	N	0.341634	T	0.12347	0.0300	N	0.12182	0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.32771	-0.9894	9	.	.	.	.	12.1704	0.54155	0.6991:0.0:0.3009:0.0	.	416;505;505	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	G	505;505;505;416;318	ENSP00000398665:R505G;ENSP00000301972:R505G;ENSP00000389323:R505G;ENSP00000379519:R416G;ENSP00000438297:R318G	.	R	+	1	2	MYRIP	40206806	0.034000	0.19679	0.037000	0.18230	0.354000	0.29330	0.347000	0.20014	-0.412000	0.07519	-0.959000	0.02639	AGG		0.647	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		9	51	0	0	0	1	0	9	51					G	40231802	A	G	40231802	3	3	496	1	0	0	0	0	1	0	0	0	10100	179	7	4	1547	4	MYRIP	3	40231802	Missense_Mutation	SNP	A	TCGA-ZG-A9N3-01A-11D-A41K-08		40231802	157790628	10	32860											
VIPR1	7433	broad.mit.edu	37	chr3	42569561	42569561	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctgccgctgtcttcatCaaagacttggccctcttcga	7	11	10	13	2	4	1	2	0	2	1	5	2	4	1	2	2	1	2	2	2	1	3			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr3:42569561C>A	ENST00000325123.4	+	6	695	c.582C>A	c.(580-582)atC>atA	p.I194I	VIPR1_ENST00000433647.1_Silent_p.I153I|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1_ENST00000543411.1_Silent_p.I146I|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000438259.2_Intron|VIPR1-AS1_ENST00000593621.1_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	194					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTGTCTTCATCAAAGACTTGG	0.607																																						ENST00000433647.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18						c.(457-459)atC>atA		vasoactive intestinal peptide receptor 1							163	141	148					3																	42569561		2203	4300	6503	SO:0001819	synonymous_variant	7433				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	g.chr3:42569561C>A	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12694	protein-coding gene	gene with protein product	"VIP and PACAP receptor 1"	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.582C>A	3.37:g.42569561C>A						VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000543411.1_Silent_p.I146I|VIPR1_ENST00000438259.2_Intron|VIPR1_ENST00000325123.4_Silent_p.I194I|VIPR1-AS1_ENST00000452639.2_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA	p.I153I	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	7	1083	+			194					A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Silent	SNP	ENST00000325123.4	37	c.459C>A	CCDS2698.1																																																																																				0.607	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624		4	55	1	0	0.150653	1	0.152309	4	55					A	42569561	C	A	42569561	2	1	496	1	0	0	0	0	0	0	0	1	17166	816	29	5		5	VIPR1	3	42569561	Silent	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	2337759	42569561	155452869	11	32861											
SLC9A9	285195	broad.mit.edu	37	chr3	143185954	143185954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaacacgaggagcagcGtagtggtaaacatcatttgt	14	9	12	6	2	1	2	1	1	0	1	1	4	1	3	0	2	4	3	0	2	5	3			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr3:143185954G>A	ENST00000316549.6	-	12	1602	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	465					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GAGGAGCAGCGTAGTGGTAAA	0.488																																						ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1393-1395)aCg>aTg		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							160	132	142					3																	143185954		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143185954G>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1394C>T	3.37:g.143185954G>A	ENSP00000320246:p.Thr465Met						p.T465M	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			12	1602	-			465					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1394C>T	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719191	0.89205	.	.	ENSG00000181804	ENST00000316549	T	0.16897	2.31	5.71	5.71	0.89125	Cation/H+ exchanger (1);	0.071648	0.64402	D	0.000020	T	0.51109	0.1655	M	0.88704	2.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.69824	0.966	T	0.58364	-0.7649	10	0.87932	D	0	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	465	Q8IVB4	SL9A9_HUMAN	M	465	ENSP00000320246:T465M	ENSP00000320246:T465M	T	-	2	0	SLC9A9	144668644	1.000000	0.71417	0.952000	0.39060	0.844000	0.47949	9.441000	0.97557	2.709000	0.92574	0.655000	0.94253	ACG		0.488	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		4	29	0	0	0	1	0	4	29					A	143185954	G	A	143185954	3	1	496	1	0	0	0	0	1	0	0	0	14721	1145	40	1	563	1	SLC9A9	3	143185954	Missense_Mutation	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08	100616393	143185954	54836476	12	32862											
HRG	3273	broad.mit.edu	37	chr3	186395542	186395542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccagcttcccattgcCgcaccacaaacatcctctaa	10	11	3	17	1	1	0	0	0	1	0	4	0	4	0	5	0	3	2	5	0	2	5			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr3:186395542C>T	ENST00000232003.4	+	7	1528	c.1448C>T	c.(1447-1449)cCg>cTg	p.P483L		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	483	His/Pro-rich (HRR).				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TTCCCATTGCCGCACCACAAA	0.488																																						ENST00000232003.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1447-1449)cCg>cTg		histidine-rich glycoprotein							128	122	124					3																	186395542		2203	4300	6503	SO:0001583	missense	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186395542C>T		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"histidine-proline rich glycoprotein", "thrombophilia due to elevated HRG"	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.1448C>T	3.37:g.186395542C>T	ENSP00000232003:p.Pro483Leu						p.P483L	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	7	1528	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		483			His/Pro-rich (HRR).		B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	c.1448C>T	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	C	6.582	0.475741	0.12521	.	.	ENSG00000113905	ENST00000232003	T	0.19669	2.13	4.94	3.12	0.35913	.	0.458597	0.18564	N	0.137526	T	0.18841	0.0452	L	0.60455	1.87	0.09310	N	1	P	0.34800	0.469	B	0.31016	0.123	T	0.17137	-1.0379	10	0.87932	D	0	-0.5707	6.9686	0.24637	0.0:0.7082:0.1943:0.0975	.	483	P04196	HRG_HUMAN	L	483	ENSP00000232003:P483L	ENSP00000232003:P483L	P	+	2	0	HRG	187878236	0.001000	0.12720	0.002000	0.10522	0.036000	0.12997	1.246000	0.32803	0.601000	0.29879	0.555000	0.69702	CCG		0.488	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		36	58	0	0	0	1	0	36	58					T	186395542	C	T	186395542	3	4	496	1	0	0	0	0	1	0	0	0	7354	652	23	2	1474	2	HRG	3	186395542	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	43209588	186395542	11626888	13	32863											
PCDH10	57575	broad.mit.edu	37	chr4	134084164	134084164	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaattgcactgaggaaTgtaaagctctgggccactca	11	10	9	11	0	3	1	1	1	2	0	4	2	3	2	2	2	2	3	2	2	4	2			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr4:134084164T>A	ENST00000264360.5	+	4	3656	c.2830T>A	c.(2830-2832)Tgt>Agt	p.C944S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	944					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		CACTGAGGAATGTAAAGCTCT	0.478																																						ENST00000264360.4																			0				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						c.(2830-2832)Tgt>Agt		protocadherin 10							175	147	156					4																	134084164		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084164T>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2830T>A	4.37:g.134084164T>A	ENSP00000264360:p.Cys944Ser						p.C944S	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3656	+			944					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2830T>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	7.644	0.681533	0.14907	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.70282	-0.47	4.94	4.94	0.65067	.	0.000000	0.39615	N	0.001306	T	0.78898	0.4356	L	0.52126	1.63	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.76358	-0.2988	10	0.30078	T	0.28	.	14.716	0.69269	0.0:0.0:0.0:1.0	.	944	Q9P2E7	PCD10_HUMAN	S	944	ENSP00000264360:C944S	ENSP00000264360:C944S	C	+	1	0	PCDH10	134303614	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.482000	0.81143	2.194000	0.70268	0.528000	0.53228	TGT		0.478	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		11	58	0	0	0	1	0	11	58					A	134084164	T	A	134084164	3	1	496	1	0	0	0	0	1	0	0	0	11507	1464	51	5	2904	5	PCDH10	4	134084164	Missense_Mutation	SNP	T	TCGA-ZG-A9N3-01A-11D-A41K-08		134084164	57070112	14	32864											
FBXO4	26272	broad.mit.edu	37	chr5	41929873	41929873	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatggagctgtcacttcttTtttacactccctgatcattc	7	17	6	11	0	3	1	2	1	1	0	5	2	4	2	1	1	2	2	1	1	2	6	rs371078455		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr5:41929873T>G	ENST00000281623.3	+	3	556	c.500T>G	c.(499-501)tTt>tGt	p.F167C	FBXO4_ENST00000296812.2_Missense_Mutation_p.F167C|FBXO4_ENST00000509134.1_Missense_Mutation_p.F167C	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	167					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			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)				GTCACTTCTTTTTTACACTCC	0.393																																						ENST00000296812.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27						c.(499-501)tTt>tGt		F-box protein 4							213	195	201					5																	41929873		2203	4300	6503	SO:0001583	missense	26272				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	g.chr5:41929873T>G	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"F-boxes /  "other""	13583	protein-coding gene	gene with protein product		609090	"F-box only protein 4"			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.500T>G	5.37:g.41929873T>G	ENSP00000281623:p.Phe167Cys					FBXO4_ENST00000281623.3_Missense_Mutation_p.F167C|FBXO4_ENST00000509134.1_Missense_Mutation_p.F167C	p.F167C	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN			3	556	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	167					Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	c.500T>G	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.666359	0.88251	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	T;T;T	0.46819	0.86;0.86;0.86	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.987	T	0.68926	-0.5280	10	0.87932	D	0	-23.9023	16.0663	0.80878	0.0:0.0:0.0:1.0	.	167;167;167	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	C	167	ENSP00000296812:F167C;ENSP00000281623:F167C;ENSP00000421749:F167C	ENSP00000281623:F167C	F	+	2	0	FBXO4	41965630	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.602000	0.82796	2.196000	0.70406	0.533000	0.62120	TTT		0.393	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			35	88	0	0	0	1	0	35	88					G	41929873	T	G	41929873	3	3	496	1	0	0	0	0	1	0	0	0	5748	1841	64	5	510	5	FBXO4	5	41929873	Missense_Mutation	SNP	T	TCGA-ZG-A9N3-01A-11D-A41K-08		41929873	138985387	15	32865											
PCDHA10	56139	broad.mit.edu	37	chr5	140237812	140237812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgctcggcggcgcccaccGagggcgcatgtgggccggtg	3	5	20	13	6	0	0	0	0	0	0	1	1	0	0	3	6	1	2	3	6	0	0			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr5:140237812G>A	ENST00000307360.5	+	1	2179	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	727					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCCCACCGAGGGCGCATG	0.652																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(2179-2181)Gag>Aag																																						SO:0001583	missense	0							g.chr5:140237812G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2179G>A	5.37:g.140237812G>A	ENSP00000304234:p.Glu727Lys					PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.E727K	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2179	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.2179G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	8.105	0.777591	0.16120	.	.	ENSG00000250120	ENST00000307360	T	0.13657	2.57	3.66	1.77	0.24775	.	.	.	.	.	T	0.20495	0.0493	M	0.90252	3.1	0.09310	N	1	B;B	0.20988	0.038;0.05	B;B	0.24269	0.052;0.016	T	0.34453	-0.9828	9	0.18710	T	0.47	.	7.0943	0.25301	0.1056:0.1865:0.7079:0.0	.	727;727	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	K	727	ENSP00000304234:E727K	ENSP00000304234:E727K	E	+	1	0	PCDHA10	140217996	0.038000	0.19896	0.665000	0.29768	0.088000	0.18126	1.980000	0.40618	0.820000	0.34516	0.491000	0.48974	GAG		0.652	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		4	13	0	0	0	1	0	4	13					A	140237812	G	A	140237812	3	1	496	1	0	0	0	0	1	0	0	0	11520	1059	37	2	2181	2	PCDHA10	5	140237812	Missense_Mutation	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08	98307939	140237812	40677448	16	32866											
ITK	3702	broad.mit.edu	37	chr5	156638349	156638349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctccagatcgtgagagcCggcagcgctgggtgctggcc	5	8	16	12	3	0	2	0	1	0	2	2	3	1	2	3	3	4	4	3	3	0	1			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr5:156638349C>T	ENST00000422843.3	+	3	447	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	99	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	TCGTGAGAGCCGGCAGCGCTG	0.493			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	ENST00000422843.3				Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		0				breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(295-297)Cgg>Tgg		IL2-inducible T-cell kinase							118	110	113					5																	156638349		2203	4300	6503	SO:0001583	missense	3702				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	g.chr5:156638349C>T	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.295C>T	5.37:g.156638349C>T	ENSP00000398655:p.Arg99Trp					CTB-4E7.1_ENST00000519375.1_RNA	p.R99W	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	447	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	99			PH.		B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	c.295C>T	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077806	0.76528	.	.	ENSG00000113263	ENST00000422843	T	0.78246	-1.16	5.8	4.03	0.46877	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.88926	0.6570	M	0.92077	3.27	0.53688	D	0.999978	D	0.89917	1.0	D	0.74674	0.984	D	0.88754	0.3252	10	0.87932	D	0	.	8.6618	0.34097	0.2751:0.654:0.0:0.0709	.	99	Q08881	ITK_HUMAN	W	99	ENSP00000398655:R99W	ENSP00000398655:R99W	R	+	1	2	ITK	156570927	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.335000	0.33839	0.791000	0.33826	-0.122000	0.15005	CGG		0.493	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			13	35	0	0	0	1	0	13	35					T	156638349	C	T	156638349	3	4	496	1	0	0	0	0	1	0	0	0	7909	643	23	2	305	2	ITK	5	156638349	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	16400537	156638349	24276911	17	32867											
ZNF354B	117608	broad.mit.edu	37	chr5	178310743	178310743	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgacttaatagacaccgaatAattcatactggagagaaatt	17	10	7	7	2	1	2	1	0	0	2	1	6	1	3	1	1	1	0	1	1	6	6			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr5:178310743A>C	ENST00000322434.3	+	5	1516	c.1290A>C	c.(1288-1290)atA>atC	p.I430I	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACACCGAATAATTCATACTG	0.353																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(1288-1290)atA>atC		zinc finger protein 354B							70	75	73					5																	178310743		2203	4300	6503	SO:0001819	synonymous_variant	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310743A>C	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"Zinc fingers, C2H2-type", "-"	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1290A>C	5.37:g.178310743A>C							p.I430I	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1516	+	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)	430					A8K0V2|Q5U5Z4	Silent	SNP	ENST00000322434.3	37	c.1290A>C	CCDS4439.1																																																																																				0.353	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		3	54	0	0	0	1	0	3	54					C	178310743	A	C	178310743	2	2	496	1	0	0	0	0	0	0	0	1	17862	352	13	5		5	ZNF354B	5	178310743	Silent	SNP	A	TCGA-ZG-A9N3-01A-11D-A41K-08	21672394	178310743	2604517	18	32868											
HNRNPH1	3187	broad.mit.edu	37	chr5	179050048	179050048	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctaactcaccagaaaaaaaCctctgcacttcatcggccga	14	8	5	14	2	4	1	2	0	2	1	5	2	4	1	3	1	3	1	3	1	4	2			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr5:179050048C>A	ENST00000356731.5	-	1	1622	c.87G>T	c.(85-87)agG>agT	p.R29S	HNRNPH1_ENST00000510411.1_Missense_Mutation_p.R29S|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.R29S|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.R29S|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.R29S|HNRNPH1_ENST00000524180.1_5'UTR			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	29	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CAGAAAAAAACCTCTGCACTT	0.672																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.(85-87)agG>agT		heterogeneous nuclear ribonucleoprotein H1 (H)							70	64	66					5																	179050048		2203	4300	6503	SO:0001583	missense	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179050048C>A	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"RNA binding motif (RRM) containing"	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.87G>T	5.37:g.179050048C>A	ENSP00000349168:p.Arg29Ser					HNRNPH1_ENST00000510411.1_Missense_Mutation_p.R29S|HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.R29S|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.R29S|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.R29S	p.R29S			P31943	HNRH1_HUMAN			1	1622	-			29			RRM 1.		B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	ENST00000356731.5	37	c.87G>T	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	c	13.76	2.333756	0.41297	.	.	ENSG00000169045	ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000503105;ENST00000508103;ENST00000506721;ENST00000523137;ENST00000505811;ENST00000510431;ENST00000519056;ENST00000504348;ENST00000513225;ENST00000515158;ENST00000521116;ENST00000515714;ENST00000503664	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.28255	3.17;3.17;3.17;3.17;3.17;3.17;3.17;3.17;3.17;3.17;3.17;1.62;3.17;3.17;3.17;3.17;3.17;1.62	3.43	-5.96	0.02234	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.171578	0.48767	D	0.000168	T	0.13415	0.0325	N	0.16037	0.36	0.80722	D	1	B	0.29270	0.24	B	0.32393	0.145	T	0.02610	-1.1134	10	0.38643	T	0.18	-2.0715	8.1755	0.31278	0.3184:0.4248:0.2568:0.0	.	29	P31943	HNRH1_HUMAN	S	29	ENSP00000377082:R29S;ENSP00000397797:R29S;ENSP00000349168:R29S;ENSP00000327539:R29S;ENSP00000426275:R29S;ENSP00000427408:R29S;ENSP00000425732:R29S;ENSP00000420850:R29S;ENSP00000427986:R29S;ENSP00000424087:R29S;ENSP00000423140:R29S;ENSP00000430970:R29S;ENSP00000427388:R29S;ENSP00000426518:R29S;ENSP00000421695:R29S;ENSP00000429661:R29S;ENSP00000425343:R29S;ENSP00000426726:R29S	ENSP00000327539:R29S	R	-	3	2	HNRNPH1	178982654	0.000000	0.05858	0.994000	0.49952	0.897000	0.52465	-3.259000	0.00536	-0.660000	0.05352	0.491000	0.48974	AGG		0.672	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520		5	18	1	0	0.000602214	1	0.000651809	5	18					A	179050048	C	A	179050048	3	1	496	1	0	0	0	0	1	0	0	0	7266	506	18	5	1310	5	HNRNPH1	5	179050048	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	739305	179050048	1865212	19	32869											
TBC1D7	51256	broad.mit.edu	37	chr6	13316821	13316821	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accaactggggcaaggaatcCcggtacttggtatttaattg	11	11	11	8	1	0	0	0	0	0	0	1	1	1	1	2	5	2	3	2	5	6	6			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr6:13316821C>A	ENST00000379300.3	-	5	744	c.501G>T	c.(499-501)cgG>cgT	p.R167R	TBC1D7_ENST00000607658.1_Silent_p.R140R|TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000379307.2_Silent_p.R140R|TBC1D7_ENST00000356436.4_Silent_p.R167R|TBC1D7_ENST00000607532.1_5'UTR	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	167	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			GCAAGGAATCCCGGTACTTGG	0.473																																						ENST00000607658.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22						c.(418-420)cgG>cgT		TBC1 domain family, member 7							136	146	142					6																	13316821		2203	4300	6503	SO:0001819	synonymous_variant	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13316821C>A	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.501G>T	6.37:g.13316821C>A						TBC1D7_ENST00000379300.3_Silent_p.R167R|TBC1D7_ENST00000379307.2_Silent_p.R140R|TBC1D7_ENST00000356436.4_Silent_p.R167R|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Intron	p.R140R			Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		4	570	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	167			Rab-GAP TBC.		E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Silent	SNP	ENST00000379300.3	37	c.420G>T	CCDS4523.1																																																																																				0.473	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		43	87	1	0	2.13384e-23	1	2.54952e-23	43	87					A	13316821	C	A	13316821	2	1	496	1	0	0	0	0	0	0	0	1	15621	610	22	5		5	TBC1D7	6	13316821	Silent	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08		13316821	157798246	20	32870											
BTN3A3	10384	broad.mit.edu	37	chr6	26452087	26452087	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattactgggaggtggaagtGggggacagaaaagagtggca	13	6	18	4	0	0	2	0	0	0	2	0	5	0	5	0	6	1	1	0	6	4	1			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr6:26452087G>C	ENST00000244519.2	+	11	1446	c.1203G>C	c.(1201-1203)gtG>gtC	p.V401V	BTN3A3_ENST00000361232.3_Silent_p.V352V|BTN3A3_ENST00000339789.4_Silent_p.V359V	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	401	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						AGGTGGAAGTGGGGGACAGAA	0.493																																						ENST00000244519.2																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1201-1203)gtG>gtC		butyrophilin, subfamily 3, member A3							100	96	97					6																	26452087		2203	4300	6503	SO:0001819	synonymous_variant	10384					integral to membrane		g.chr6:26452087G>C	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1203G>C	6.37:g.26452087G>C						BTN3A3_ENST00000361232.3_Silent_p.V352V|BTN3A3_ENST00000339789.4_Silent_p.V359V	p.V401V	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN			11	1446	+			401			B30.2/SPRY.		B4DWI7|E9PCP5	Silent	SNP	ENST00000244519.2	37	c.1203G>C	CCDS4611.1																																																																																				0.493	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		5	38	0	0	0	1	0	5	38					C	26452087	G	C	26452087	2	2	496	1	0	0	0	0	0	0	0	1	1564	1335	47	5		5	BTN3A3	6	26452087	Silent	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08	13135266	26452087	144662980	21	32871											
COL19A1	1310	broad.mit.edu	37	chr6	70637824	70637824	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatttcccaaaggccttcCtgaggagtactcagtagctg	10	11	10	10	0	1	1	1	1	0	0	3	3	3	2	3	2	2	3	3	2	4	5			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr6:70637824C>A	ENST00000322773.4	+	5	392	c.290C>A	c.(289-291)cCt>cAt	p.P97H		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	97	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAAGGCCTTCCTGAGGAGTAC	0.418																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(289-291)cCt>cAt		collagen, type XIX, alpha 1							127	127	127					6																	70637824		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70637824C>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.290C>A	6.37:g.70637824C>A	ENSP00000316030:p.Pro97His						p.P97H	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			5	392	+			97			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.290C>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401978	0.25291	.	.	ENSG00000082293	ENST00000322773	T	0.32272	1.46	5.71	3.85	0.44370	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.24851	0.0603	M	0.81112	2.525	0.80722	D	1	B	0.21905	0.062	B	0.18871	0.023	T	0.31024	-0.9958	10	0.87932	D	0	.	15.0287	0.71691	0.2588:0.7412:0.0:0.0	.	97	Q14993	COJA1_HUMAN	H	97	ENSP00000316030:P97H	ENSP00000316030:P97H	P	+	2	0	COL19A1	70694545	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	7.295000	0.78780	1.387000	0.46486	0.655000	0.94253	CCT		0.418	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			5	73	1	0	1	1	1	5	73					A	70637824	C	A	70637824	3	1	496	1	0	0	0	0	1	0	0	0	3676	681	24	5	304	5	COL19A1	6	70637824	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	44185737	70637824	100477243	22	32872											
KIAA0776	23376	broad.mit.edu	37	chr6	97000426	97000426	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagaagaccctgctcttaTtctgcacctcacatcagtcc	10	10	5	16	0	4	2	2	0	2	2	5	2	5	2	3	0	2	2	3	0	2	2			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr6:97000426T>C	ENST00000369278.4	+	18	2120	c.2054T>C	c.(2053-2055)aTt>aCt	p.I685T		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	685					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										CCTGCTCTTATTCTGCACCTC	0.413																																						ENST00000369278.4																			0											c.(2053-2055)aTt>aCt		UFM1-specific ligase 1							162	124	137					6																	97000426		2203	4300	6503	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:97000426T>C	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.2054T>C	6.37:g.97000426T>C	ENSP00000358283:p.Ile685Thr						p.I685T	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			18	2120	+			685					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.2054T>C	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	T	11.96	1.794082	0.31777	.	.	ENSG00000014123	ENST00000369278	T	0.41400	1.0	5.47	3.06	0.35304	.	0.207171	0.49305	N	0.000160	T	0.11196	0.0273	L	0.28274	0.84	0.37050	D	0.897561	B	0.02656	0.0	B	0.04013	0.001	T	0.10497	-1.0627	10	0.14252	T	0.57	-9.5303	9.8455	0.41024	0.0:0.1398:0.0:0.8602	.	685	O94874	UFL1_HUMAN	T	685	ENSP00000358283:I685T	ENSP00000358283:I685T	I	+	2	0	KIAA0776	97107147	1.000000	0.71417	0.905000	0.35620	0.970000	0.65996	4.644000	0.61397	0.457000	0.26962	0.533000	0.62120	ATT		0.413	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		7	40	0	0	0	1	0	7	40					C	97000426	T	C	97000426	3	2	496	1	0	0	0	0	1	0	0	0	8193	1493	52	4	2124	4	KIAA0776	6	97000426	Missense_Mutation	SNP	T	TCGA-ZG-A9N3-01A-11D-A41K-08	26362602	97000426	74114641	23	32873											
VGLL2	245806	broad.mit.edu	37	chr6	117586987	117586987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagccctacttcgcagccGcctacaccccctaccaccag	8	5	6	22	3	0	0	0	0	0	0	1	0	0	0	7	0	5	2	7	0	3	4			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr6:117586987G>A	ENST00000326274.5	+	1	251	c.61G>A	c.(61-63)Gcc>Acc	p.A21T	VGLL2_ENST00000352536.3_Missense_Mutation_p.A21T	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	21					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.A21S(1)		central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CTTCGCAGCCGCCTACACCCC	0.582																																						ENST00000326274.5																			1	Substitution - Missense(1)	p.A21S(1)	lung(1)	central_nervous_system(1)|kidney(1)|lung(3)	5						c.(61-63)Gcc>Acc		vestigial like 2 (Drosophila)							106	84	92					6																	117586987		2203	4300	6503	SO:0001583	missense	245806				transcription, DNA-dependent	nucleus		g.chr6:117586987G>A	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"vestigial like 2 (Drosophila)"			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.61G>A	6.37:g.117586987G>A	ENSP00000320957:p.Ala21Thr					VGLL2_ENST00000352536.3_Missense_Mutation_p.A21T	p.A21T	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	1	251	+			21					Q8WWX1	Missense_Mutation	SNP	ENST00000326274.5	37	c.61G>A	CCDS5115.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918902	0.92249	.	.	ENSG00000170162	ENST00000352536;ENST00000326274	T	0.51325	0.71	5.17	4.29	0.51040	.	0.145914	0.45126	D	0.000383	T	0.28995	0.0720	L	0.27053	0.805	0.46336	D	0.998995	D;D	0.67145	0.994;0.996	P;P	0.48454	0.546;0.578	T	0.09862	-1.0655	10	0.51188	T	0.08	-1.5298	13.5242	0.61584	0.0757:0.0:0.9243:0.0	.	21;21	Q8N8G2-2;Q8N8G2	.;VGLL2_HUMAN	T	21	ENSP00000320957:A21T	ENSP00000320957:A21T	A	+	1	0	VGLL2	117693680	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.808000	0.55598	1.175000	0.42826	0.563000	0.77884	GCC		0.582	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		5	18	0	0	0	1	0	5	18					A	117586987	G	A	117586987	3	1	496	1	0	0	0	0	1	0	0	0	17156	1087	38	1	63	1	VGLL2	6	117586987	Missense_Mutation	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08	20586561	117586987	53528080	24	32874											
TRDN	10345	broad.mit.edu	37	chr6	123687296	123687296	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttttttaattgaaacCgcaccaatctcctctttggc	9	16	4	12	1	2	1	0	1	2	0	3	1	2	1	4	1	2	1	4	1	4	6			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr6:123687296C>T	ENST00000398178.3	-	20	1326	c.1305G>A	c.(1303-1305)gcG>gcA	p.A435A	TRDN_ENST00000334268.4_Silent_p.A435A	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	435					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TAATTGAAACCGCACCAATCT	0.323																																						ENST00000334268.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.(1303-1305)gcG>gcA		triadin							97	91	93					6																	123687296		1806	4081	5887	SO:0001819	synonymous_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123687296C>T	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1305G>A	6.37:g.123687296C>T						TRDN_ENST00000398178.3_Silent_p.A435A	p.A435A			Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	20	1622	-			435					A5D6W5|F5H2W7|Q6NSB8	Silent	SNP	ENST00000398178.3	37	c.1305G>A	CCDS55053.1																																																																																				0.323	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	8	0	0	0	1	0	4	8					T	123687296	C	T	123687296	2	4	496	1	0	0	0	0	0	0	0	1	16465	639	23	2		2	TRDN	6	123687296	Silent	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	6100309	123687296	47427771	25	32875											
ENPP1	5167	broad.mit.edu	37	chr6	132207857	132207857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggactgataacagcgagaGctgtgtggtaagtagctttt	11	11	13	6	1	0	2	0	1	0	1	0	4	0	3	0	2	4	4	0	2	3	5			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr6:132207857G>T	ENST00000360971.2	+	24	2620	c.2600G>T	c.(2599-2601)aGc>aTc	p.S867I		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	867	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AACAGCGAGAGCTGTGTGGTA	0.388																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2599-2601)aGc>aTc		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						112	103	106					6																	132207857		2203	4300	6503	SO:0001583	missense	5167				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	g.chr6:132207857G>T	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2600G>T	6.37:g.132207857G>T	ENSP00000354238:p.Ser867Ile						p.S867I	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	24	2620	+	Breast(56;0.0505)		867			Nuclease.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.2600G>T	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040326	0.35989	.	.	ENSG00000197594	ENST00000360971	T	0.66280	-0.2	5.62	4.76	0.60689	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.260386	0.43579	D	0.000556	T	0.72898	0.3518	M	0.80982	2.52	0.46654	D	0.999149	D	0.65815	0.995	D	0.67900	0.954	T	0.77840	-0.2438	10	0.59425	D	0.04	-11.0849	14.3604	0.66768	0.0718:0.0:0.9282:0.0	.	867	P22413	ENPP1_HUMAN	I	867	ENSP00000354238:S867I	ENSP00000354238:S867I	S	+	2	0	ENPP1	132249550	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	3.446000	0.52928	1.389000	0.46526	-0.150000	0.13652	AGC		0.388	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			6	93	1	0	0.0293803	1	0.0303707	6	93					T	132207857	G	T	132207857	3	4	496	1	0	0	0	0	1	0	0	0	5129	971	34	5	2694	5	ENPP1	6	132207857	Missense_Mutation	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08	8520561	132207857	38907210	26	32876											
SYNE1	23345	broad.mit.edu	37	chr6	152688489	152688489	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaactgattgtgttctgcaAcgattctatccagtcttgac	10	14	8	9	1	3	3	0	2	3	1	4	4	4	3	1	0	3	2	1	0	3	5			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr6:152688489A>T	ENST00000367255.5	-	62	10437	c.9836T>A	c.(9835-9837)gTt>gAt	p.V3279D	SYNE1_ENST00000448038.1_Missense_Mutation_p.V3286D|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3318D|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3279D|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3286D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3279					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			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)		GTGTTCTGCAACGATTCTATC	0.443										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(9835-9837)gTt>gAt		spectrin repeat containing, nuclear envelope 1							172	151	158					6																	152688489		2203	4300	6503	SO:0001583	missense	23345				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	g.chr6:152688489A>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9836T>A	6.37:g.152688489A>T	ENSP00000356224:p.Val3279Asp	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.V3286D|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3279D|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3318D|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3286D	p.V3279D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	62	10437	-		Ovarian(120;0.0955)	3279					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.9836T>A	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.5|21.5	4.157624|4.157624	0.78114|0.78114	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000454018|ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.|T;T;T;T;T	.|0.59638	.|1.27;0.26;1.27;0.25;0.67	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.232991	.|0.30043	.|N	.|0.010547	T|T	0.69124|0.69124	0.3076|0.3076	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.71674	.|0.995;0.996;0.995;0.998	.|P;D;P;D	.|0.65323	.|0.83;0.934;0.83;0.918	T|T	0.73014|0.73014	-0.4116|-0.4116	5|10	.|0.72032	.|D	.|0.01	.|.	16.8222|16.8222	0.85835|0.85835	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|3279;396;3279;3286	.|Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4	.|SYNE1_HUMAN;.;.;.	M|D	396|3279;3286;3279;3286;3318	.|ENSP00000356224:V3279D;ENSP00000396024:V3286D;ENSP00000265368:V3279D;ENSP00000390975:V3286D;ENSP00000341887:V3318D	.|ENSP00000265368:V3279D	L|V	-|-	1|2	2|0	SYNE1|SYNE1	152730182|152730182	1.000000|1.000000	0.71417|0.71417	0.072000|0.072000	0.20136|0.20136	0.939000|0.939000	0.58152|0.58152	7.161000|7.161000	0.77505|0.77505	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	TTG|GTT		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		22	82	0	0	0	1	0	22	82					T	152688489	A	T	152688489	3	4	496	1	0	0	0	0	1	0	0	0	15442	43	2	5	16970	5	SYNE1	6	152688489	Missense_Mutation	SNP	A	TCGA-ZG-A9N3-01A-11D-A41K-08	20480632	152688489	18426578	27	32877											
IGFBP3	3486	broad.mit.edu	37	chr7	45957023	45957023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcgctgcggtcttcctccGactcactagcatttccttaa	6	12	8	15	4	2	0	1	0	1	0	5	1	5	0	3	2	2	2	3	2	2	4	rs139238956		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr7:45957023G>A	ENST00000275521.6	-	2	552	c.419C>T	c.(418-420)tCg>tTg	p.S140L	IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Missense_Mutation_p.S146L|IGFBP3_ENST00000381086.5_Missense_Mutation_p.S43L	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	140	Ser/Thr-rich.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	GTCTTCCTCCGACTCACTAGC	0.502											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0	0	5008	,	,		16633	0		0.001	False		,,,				2504	0					ENST00000275521.6																			0				large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17						c.(418-420)tCg>tTg		insulin-like growth factor binding protein 3	Mecasermin(DB01277)	G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	40	42	41		419,437	4.6	0.9	7	dbSNP_134	41	0,8600		0,0,4300	no	missense,missense	IGFBP3	NM_000598.4,NM_001013398.1	145,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	140/292,146/298	45957023	1,13005	2203	4300	6503	SO:0001583	missense	3486				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	g.chr7:45957023G>A		CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"growth hormone-dependent binding protein", "acid stable subunit of the 140 K IGF complex", "binding protein 53", "binding protein 29", "IGF-binding protein 3"	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.419C>T	7.37:g.45957023G>A	ENSP00000275521:p.Ser140Leu		OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	935	IGFBP3_ENST00000381086.5_Missense_Mutation_p.S43L|IGFBP3_ENST00000381083.4_Missense_Mutation_p.S146L|IGFBP3_ENST00000465642.1_5'UTR	p.S140L	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN			2	552	-			140			Ser/Thr-rich.		A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Missense_Mutation	SNP	ENST00000275521.6	37	c.419C>T	CCDS5505.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.982355	0.53827	2.27E-4	0.0	ENSG00000146674	ENST00000545032;ENST00000275521;ENST00000381086;ENST00000438491;ENST00000442142;ENST00000381083;ENST00000433047;ENST00000448817	T;T;T;T	0.26957	2.34;1.7;2.39;1.87	5.55	4.59	0.56863	.	4.077650	0.01510	U	0.017898	T	0.35998	0.0951	M	0.80183	2.485	0.22446	N	0.999093	P;P;P	0.49783	0.785;0.818;0.928	B;B;B	0.37144	0.121;0.217;0.242	T	0.49943	-0.8885	10	0.45353	T	0.12	-23.8507	12.3786	0.55293	0.0:0.0:0.8207:0.1793	.	43;140;125	B3KWK7;P17936;B4DN53	.;IBP3_HUMAN;.	L	117;140;43;126;38;146;112;30	ENSP00000275521:S140L;ENSP00000370476:S43L;ENSP00000370473:S146L;ENSP00000389668:S30L	ENSP00000275521:S140L	S	-	2	0	IGFBP3	45923548	1.000000	0.71417	0.938000	0.37757	0.246000	0.25737	4.133000	0.57983	2.613000	0.88420	0.655000	0.94253	TCG		0.502	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251356.3	NM_001013398		9	27	0	0	0	1	0	9	27					A	45957023	G	A	45957023	3	1	496	1	0	0	0	0	1	0	0	0	7580	1059	37	2	468	2	IGFBP3	7	45957023	Missense_Mutation	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08		45957023	113181640	28	32878											
PION	54103	broad.mit.edu	37	chr7	76982299	76982299	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaatgtggcaatagttTgtccatgttacttgtctctg	8	16	11	6	0	1	1	0	1	1	0	3	2	2	2	1	2	1	3	1	2	4	4			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr7:76982299T>G	ENST00000257626.7	-	18	1531	c.1453A>C	c.(1453-1455)Aaa>Caa	p.K485Q		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	485					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										GGCAATAGTTTGTCCATGTTA	0.363																																						ENST00000257626.7																			0											c.(1453-1455)Aaa>Caa		gamma-secretase activating protein							233	201	212					7																	76982299		2203	4300	6503	SO:0001583	missense	54103							g.chr7:76982299T>G		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1453A>C	7.37:g.76982299T>G	ENSP00000257626:p.Lys485Gln						p.K485Q	NM_017439.3	NP_059135.2					18	1531	-								A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	c.1453A>C	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	T	12.98	2.101209	0.37048	.	.	ENSG00000186088	ENST00000257626	T	0.22743	1.94	6.06	0.555	0.17247	.	0.168849	0.37809	U	0.001925	T	0.14657	0.0354	L	0.35723	1.085	0.09310	N	0.999999	B;B	0.23806	0.091;0.041	B;B	0.23574	0.047;0.019	T	0.17930	-1.0353	10	0.49607	T	0.09	.	7.8704	0.29563	0.0:0.0715:0.401:0.5275	.	485;485	A4D1B5-3;A4D1B5	.;GSAP_HUMAN	Q	485	ENSP00000257626:K485Q	ENSP00000257626:K485Q	K	-	1	0	PION	76820235	0.402000	0.25311	0.001000	0.08648	0.987000	0.75469	0.608000	0.24223	0.134000	0.18681	0.533000	0.62120	AAA		0.363	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		6	271	0	0	0	1	0	6	271					G	76982299	T	G	76982299	3	3	496	1	0	0	0	0	1	0	0	0	11934	1821	63	5	1167	5	PION	7	76982299	Missense_Mutation	SNP	T	TCGA-ZG-A9N3-01A-11D-A41K-08	31025276	76982299	82156364	29	32879											
RPL7	6129	broad.mit.edu	37	chr8	74203464	74203464	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatctcatgaatcaaatcctCcatgcagatgatgccgtatt	12	12	7	10	1	2	3	2	2	1	1	5	4	4	3	3	0	2	2	3	0	3	2			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr8:74203464C>G	ENST00000352983.2	-	6	847	c.562G>C	c.(562-564)Gag>Cag	p.E188Q	RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396466.1_Missense_Mutation_p.E148Q|RPL7_ENST00000396465.1_Missense_Mutation_p.E148Q|RPL7_ENST00000396467.1_Missense_Mutation_p.E148Q			P18124	RL7_HUMAN	ribosomal protein L7	188					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			ATCAAATCCTCCATGCAGATG	0.318																																						ENST00000396467.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(442-444)Gag>Cag		ribosomal protein L7							22	23	23					8																	74203464		2192	4288	6480	SO:0001583	missense	6129				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome	g.chr8:74203464C>G	L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"L ribosomal proteins"	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.562G>C	8.37:g.74203464C>G	ENSP00000339795:p.Glu188Gln					RPL7_ENST00000396466.1_Missense_Mutation_p.E148Q|RPL7_ENST00000396465.1_Missense_Mutation_p.E148Q|RPL7_ENST00000352983.2_Missense_Mutation_p.E188Q	p.E148Q	NM_000971.3	NP_000962.2	P18124	RL7_HUMAN	Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)		6	580	-	Breast(64;0.0954)		188					A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Missense_Mutation	SNP	ENST00000352983.2	37	c.442G>C	CCDS6212.1	.	.	.	.	.	.	.	.	.	.	C	31	5.089389	0.94149	.	.	ENSG00000147604	ENST00000396467;ENST00000352983;ENST00000396466;ENST00000396465	.	.	.	5.57	5.57	0.84162	Ribosomal protein L30, ferredoxin-like fold domain (1);	0.000000	0.85682	U	0.000000	D	0.85522	0.5716	H	0.95611	3.695	0.80722	D	1	D	0.69078	0.997	P	0.56700	0.804	D	0.89881	0.4030	9	0.87932	D	0	.	19.5451	0.95291	0.0:1.0:0.0:0.0	.	188	P18124	RL7_HUMAN	Q	148;188;148;148	.	ENSP00000339795:E188Q	E	-	1	0	RPL7	74366018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.531000	0.81973	2.600000	0.87896	0.655000	0.94253	GAG		0.318	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259287.1	NM_000971		7	16	0	0	0	1	0	7	16					G	74203464	C	G	74203464	3	3	496	1	0	0	0	0	1	0	0	0	13599	864	30	5	188	5	RPL7	8	74203464	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08		74203464	72160558	30	32880											
CYP11B1	1584	broad.mit.edu	37	chr8	143957228	143957228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcggccaggctctcctggcGcagggcctgctgcacgttgg	3	7	17	14	3	1	0	0	0	1	0	2	0	1	0	3	6	2	5	3	6	0	1	rs372115638		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr8:143957228G>A	ENST00000292427.4	-	6	1053	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341C|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	341					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTCTCCTGGCGCAGGGCCTGC	0.642									Familial Hyperaldosteronism type I																													ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	GRCh37	HM972176	CYP11B1	M		c.(1021-1023)Cgc>Tgc		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	78	80	79		1021,1021	2.2	1	8		79	1,8599		0,1,4299	no	missense,missense	CYP11B1	NM_000497.3,NM_001026213.1	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	341/504,341/438	143957228	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	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	g.chr8:143957228G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1021C>T	8.37:g.143957228G>A	ENSP00000292427:p.Arg341Cys					CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341C|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412C	p.R341C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			6	1053	-	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)		341					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1021C>T	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	17.71	3.456204	0.63401	0.0	1.16E-4	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.73152	-0.72;2.31;-0.72	4.42	2.16	0.27623	.	0.126247	0.31963	N	0.006789	D	0.85652	0.5746	M	0.93854	3.465	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.997;0.997;0.976;0.999	D	0.86599	0.1865	10	0.66056	D	0.02	.	9.7347	0.40382	0.0:0.0:0.4473:0.5527	.	412;341;341;341;57	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	C	341;341;412	ENSP00000292427:R341C;ENSP00000428043:R341C;ENSP00000366903:R412C	ENSP00000292427:R341C	R	-	1	0	CYP11B1	143954230	0.011000	0.17503	0.991000	0.47740	0.808000	0.45660	0.560000	0.23500	0.949000	0.37715	0.555000	0.69702	CGC		0.642	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			28	84	0	0	0	1	0	28	84					A	143957228	G	A	143957228	3	1	496	1	0	0	0	0	1	0	0	0	4145	1087	38	1	506	1	CYP11B1	8	143957228	Missense_Mutation	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08	69753764	143957228	2406794	31	32881											
KIAA2026	158358	broad.mit.edu	37	chr9	5921341	5921341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgtgcccactgtagacGgaatcagtactatttggggt	8	13	13	7	1	1	1	1	0	0	1	1	2	1	2	1	4	2	2	1	4	4	5			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr9:5921341G>A	ENST00000399933.3	-	8	4654	c.4655C>T	c.(4654-4656)cCg>cTg	p.P1552L	KIAA2026_ENST00000381461.2_Missense_Mutation_p.P1522L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1552										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)		CACTGTAGACGGAATCAGTAC	0.383																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(4654-4656)cCg>cTg		KIAA2026							223	210	214					9																	5921341		1885	4112	5997	SO:0001583	missense	158358							g.chr9:5921341G>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.4655C>T	9.37:g.5921341G>A	ENSP00000382815:p.Pro1552Leu					KIAA2026_ENST00000381461.2_Missense_Mutation_p.P1522L	p.P1552L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	4654	-		Acute lymphoblastic leukemia(23;0.158)	1552					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.4655C>T		.	.	.	.	.	.	.	.	.	.	G	16.00	2.998195	0.54147	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000006	T	0.68302	0.2986	L	0.34521	1.04	0.51233	D	0.999911	D	0.89917	1.0	D	0.87578	0.998	T	0.71224	-0.4656	9	0.66056	D	0.02	-11.1091	18.4673	0.90760	0.0:0.0:1.0:0.0	.	1552	Q5HYC2	K2026_HUMAN	L	1552;1522	.	ENSP00000370870:P1522L	P	-	2	0	KIAA2026	5911341	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.944000	0.75940	2.605000	0.88082	0.484000	0.47621	CCG		0.383	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		61	91	0	0	0	1	0	61	91					A	5921341	G	A	5921341	3	1	496	1	0	0	0	0	1	0	0	0	8270	1116	39	2	1660	2	KIAA2026	9	5921341	Missense_Mutation	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08		5921341	135292090	32	32882											
BNC2	54796	broad.mit.edu	37	chr9	16436341	16436341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctcatgggtggccatCatcactgctggcactactgg	6	10	13	12	0	3	0	3	0	0	0	3	0	3	0	1	5	2	3	1	5	1	1			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr9:16436341C>A	ENST00000380672.4	-	6	1908	c.1851G>T	c.(1849-1851)atG>atT	p.M617I	BNC2_ENST00000380666.2_Missense_Mutation_p.M617I|BNC2_ENST00000380667.2_Missense_Mutation_p.M550I|BNC2_ENST00000545497.1_Missense_Mutation_p.M522I	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GGGTGGCCATCATCACTGCTG	0.562																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1849-1851)atG>atT		basonuclin 2							77	77	77					9																	16436341		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436341C>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1851G>T	9.37:g.16436341C>A	ENSP00000370047:p.Met617Ile					BNC2_ENST00000380666.2_Missense_Mutation_p.M617I|BNC2_ENST00000380667.2_Missense_Mutation_p.M550I|BNC2_ENST00000545497.1_Missense_Mutation_p.M522I	p.M617I	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1908	-			617						Missense_Mutation	SNP	ENST00000380672.4	37	c.1851G>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	3.259	-0.151607	0.06585	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.42131	1.59;0.98;1.59;1.6;1.6;1.58	6.17	5.28	0.74379	.	0.435018	0.29300	N	0.012558	T	0.19685	0.0473	N	0.03608	-0.345	0.28068	N	0.932707	B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.0;0.0;0.0;0.0;0.0	T	0.09079	-1.0691	10	0.37606	T	0.19	-18.9406	8.3084	0.32055	0.1271:0.7415:0.0:0.1315	.	522;550;617;443;617;574;617;522;382	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	I	617;10;574;550;522;443;617;617	ENSP00000370047:M617I;ENSP00000392212:M10I;ENSP00000408370:M574I;ENSP00000370042:M550I;ENSP00000444640:M522I;ENSP00000370041:M617I	ENSP00000370041:M617I	M	-	3	0	BNC2	16426341	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	2.046000	0.41260	1.630000	0.50440	0.655000	0.94253	ATG		0.562	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		9	51	1	0	6.42651e-13	1	7.48404e-13	9	51					A	16436341	C	A	16436341	3	1	496	1	0	0	0	0	1	0	0	0	1475	826	29	5	1456	5	BNC2	9	16436341	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	10515000	16436341	124777090	33	32883											
FLJ46321	389763	broad.mit.edu	37	chr9	84607667	84607667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcttccacgagaggagctCaaatatgctttccatggaga	13	9	10	9	1	1	2	1	0	0	2	3	5	3	3	2	2	3	3	2	2	3	3			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr9:84607667C>T	ENST00000344803.2	+	4	2329	c.2282C>T	c.(2281-2283)tCa>tTa	p.S761L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	761					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAGAGGAGCTCAAATATGCTT	0.468																																						ENST00000344803.2																			0											c.(2281-2283)tCa>tTa		SPATA31 subfamily D, member 1							57	54	55					9																	84607667		1842	4082	5924	SO:0001583	missense	389763							g.chr9:84607667C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2282C>T	9.37:g.84607667C>T	ENSP00000341988:p.Ser761Leu						p.S761L	NM_001001670.2	NP_001001670.1					4	2329	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.2282C>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417780	0.25552	.	.	ENSG00000214929	ENST00000344803	T	0.05447	3.44	2.85	0.552	0.17230	.	0.540514	0.14053	N	0.344604	T	0.08802	0.0218	M	0.72118	2.19	0.09310	N	1	B	0.24768	0.111	B	0.31191	0.125	T	0.28332	-1.0047	10	0.62326	D	0.03	0.8978	4.6687	0.12678	0.0:0.6005:0.0:0.3995	.	761	Q6ZQQ2	F75D1_HUMAN	L	761	ENSP00000341988:S761L	ENSP00000341988:S761L	S	+	2	0	FAM75D1	83797487	0.009000	0.17119	0.000000	0.03702	0.008000	0.06430	1.495000	0.35627	0.126000	0.18424	0.462000	0.41574	TCA		0.468	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		8	27	0	0	0	1	0	8	27					T	84607667	C	T	84607667	3	4	496	1	0	0	0	0	1	0	0	0	5932	838	29	3	2296	3	FLJ46321	9	84607667	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	68171326	84607667	56605764	34	32884											
APBB1IP	54518	broad.mit.edu	37	chr10	26825137	26825137	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttattatgtacccaaaggAaagactaaggtcagaaaaaa	20	9	7	5	0	1	2	1	0	0	2	1	3	1	3	1	2	1	1	1	2	9	5			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr10:26825137A>G	ENST00000376236.4	+	10	1490	c.1035A>G	c.(1033-1035)ggA>ggG	p.G345G		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	345	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TACCCAAAGGAAAGACTAAGG	0.328																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(1033-1035)ggA>ggG		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							77	94	88					10																	26825137		2199	4297	6496	SO:0001819	synonymous_variant	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26825137A>G	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"Pleckstrin homology (PH) domain containing"	17379	protein-coding gene	gene with protein product	"Rap1-GTP-interacting adaptor molecule"	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1035A>G	10.37:g.26825137A>G							p.G345G	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN			10	1490	+			345			PH.		Q8IWS8|Q8IYL7|Q8IZZ7	Silent	SNP	ENST00000376236.4	37	c.1035A>G	CCDS31167.1																																																																																				0.328	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		26	129	0	0	0	1	0	26	129					G	26825137	A	G	26825137	2	3	496	1	0	0	0	0	0	0	0	1	760	233	9	4		4	APBB1IP	10	26825137	Silent	SNP	A	TCGA-ZG-A9N3-01A-11D-A41K-08		26825137	108709610	35	32885											
CTNNA3	29119	broad.mit.edu	37	chr10	68940103	68940103	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtactctgaaagcagatccTgaagagcctggcgaatggcg	11	8	13	9	2	1	4	0	2	1	2	2	5	2	4	2	2	3	2	2	2	4	1			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr10:68940103T>A	ENST00000433211.2	-	7	1193	c.1019A>T	c.(1018-1020)cAg>cTg	p.Q340L	CTNNA3_ENST00000373744.4_Missense_Mutation_p.Q340L|CTNNA3_ENST00000545309.1_Missense_Mutation_p.Q340L	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											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						AAGCAGATCCTGAAGAGCCTG	0.498																																						ENST00000433211.1																			0				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						c.(1018-1020)cAg>cTg		catenin (cadherin-associated protein), alpha 3							114	100	105					10																	68940103		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68940103T>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1019A>T	10.37:g.68940103T>A	ENSP00000389714:p.Gln340Leu					CTNNA3_ENST00000545309.1_Missense_Mutation_p.Q340L|CTNNA3_ENST00000373744.4_Missense_Mutation_p.Q340L|CTNNA3_ENST00000494580.1_5'UTR	p.Q340L	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			7	1193	-			340						Missense_Mutation	SNP	ENST00000433211.2	37	c.1019A>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	T	32	5.137543	0.94517	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.39997	1.05;1.05;1.2	5.71	5.71	0.89125	.	0.000000	0.48286	D	0.000185	T	0.70945	0.3282	M	0.89601	3.045	0.58432	D	0.999994	D;D;D;D	0.76494	0.997;0.997;0.999;0.985	D;D;D;D	0.83275	0.994;0.994;0.996;0.982	T	0.77920	-0.2407	10	0.87932	D	0	-10.2388	14.9651	0.71184	0.0:0.0:0.0:1.0	.	340;340;340;340	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	L	340	ENSP00000389714:Q340L;ENSP00000362849:Q340L;ENSP00000441444:Q340L	ENSP00000362849:Q340L	Q	-	2	0	CTNNA3	68610109	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.166000	0.68216	0.477000	0.44152	CAG		0.498	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		6	52	0	0	0	1	0	6	52					A	68940103	T	A	68940103	3	1	496	1	0	0	0	0	1	0	0	0	4014	1580	55	5	1716	5	CTNNA3	10	68940103	Missense_Mutation	SNP	T	TCGA-ZG-A9N3-01A-11D-A41K-08	42114966	68940103	66594644	36	32886											
MUC5B	727897	broad.mit.edu	37	chr11	1271887	1271887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagctcacactaccaaaGtgccgactaccacaaccacg	15	4	6	16	2	1	0	1	0	0	0	1	2	1	0	4	0	6	1	4	0	5	2			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:1271887G>A	ENST00000529681.1	+	31	13835	c.13777G>A	c.(13777-13779)Gtg>Atg	p.V4593M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.V4596M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4593	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				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)		CACTACCAAAGTGCCGACTAC	0.657																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13786-13788)Gtg>Atg		mucin 5B, oligomeric mucus/gel-forming							55	79	72					11																	1271887		1986	4149	6135	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271887G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13777G>A	11.37:g.1271887G>A	ENSP00000436812:p.Val4593Met					MUC5B_ENST00000529681.1_Missense_Mutation_p.V4593M	p.V4596M			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	13844	+		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)	4593			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.13786G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	2.427	-0.331699	0.05314	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19105	2.17;2.36	1.56	0.564	0.17302	.	.	.	.	.	T	0.14485	0.0350	L	0.29908	0.895	0.09310	N	1	D;D	0.54964	0.969;0.969	B;B	0.43809	0.432;0.432	T	0.15607	-1.0431	9	0.87932	D	0	.	4.1399	0.10188	0.2393:0.0:0.7607:0.0	.	5066;4596	A7Y9J9;E9PBJ0	.;.	M	4593;4596;4537;4443	ENSP00000436812:V4593M;ENSP00000415793:V4596M	ENSP00000343037:V4537M	V	+	1	0	MUC5B	1228463	0.001000	0.12720	0.001000	0.08648	0.064000	0.16182	0.160000	0.16462	0.009000	0.14813	0.184000	0.17185	GTG		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		11	64	0	0	0	1	0	11	64					A	1271887	G	A	1271887	3	1	496	1	0	0	0	0	1	0	0	0	9979	1029	36	3	13908	3	MUC5B	11	1271887	Missense_Mutation	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08		1271887	133734629	37	32887											
OR52L1	338751	broad.mit.edu	37	chr11	6007621	6007621	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaagataagttttcccaaCaaaatggggaaggggataag	17	7	12	5	0	0	2	0	0	0	2	1	4	1	4	1	4	1	1	1	4	7	4			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:6007621C>A	ENST00000332249.4	-	1	594	c.540G>T	c.(538-540)ttG>ttT	p.L180F		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTTTCCCAACAAAATGGGGA	0.493																																					Melanoma(121;653 1666 10547 22796 51255)	ENST00000332249.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30						c.(538-540)ttG>ttT		olfactory receptor, family 52, subfamily L, member 1							105	97	99					11																	6007621		1998	4171	6169	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007621C>A	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.540G>T	11.37:g.6007621C>A	ENSP00000330338:p.Leu180Phe						p.L180F	NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	594	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	180					B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.540G>T	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	C	7.209	0.594972	0.13875	.	.	ENSG00000183313	ENST00000332249	T	0.00145	8.67	3.73	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34088	N	0.004272	T	0.00328	0.0010	M	0.62088	1.915	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.46775	-0.9167	10	0.72032	D	0.01	.	4.7846	0.13219	0.3339:0.5537:0.0:0.1123	.	180	Q8NGH7	O52L1_HUMAN	F	180	ENSP00000330338:L180F	ENSP00000330338:L180F	L	-	3	2	OR52L1	5964197	0.000000	0.05858	0.027000	0.17364	0.070000	0.16714	-1.391000	0.02525	0.668000	0.31126	0.313000	0.20887	TTG		0.493	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		13	69	1	0	0.0167234	1	0.0176845	13	69					A	6007621	C	A	6007621	3	1	496	1	0	0	0	0	1	0	0	0	11125	477	17	5	453	5	OR52L1	11	6007621	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	4735734	6007621	128998895	38	32888											
QSER1	79832	broad.mit.edu	37	chr11	32956318	32956318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacccagctaggagtgcaCttgcactgttggccatggcc	8	9	12	12	0	0	1	0	1	0	0	0	2	0	2	3	3	4	4	3	3	2	3			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:32956318C>T	ENST00000399302.2	+	4	3462	c.3127C>T	c.(3127-3129)Ctt>Ttt	p.L1043F	QSER1_ENST00000527788.1_Missense_Mutation_p.L804F	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1043										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TAGGAGTGCACTTGCACTGTT	0.433																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(3127-3129)Ctt>Ttt		glutamine and serine rich 1							86	82	83					11																	32956318		1940	4141	6081	SO:0001583	missense	79832							g.chr11:32956318C>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3127C>T	11.37:g.32956318C>T	ENSP00000382241:p.Leu1043Phe					QSER1_ENST00000527788.1_Missense_Mutation_p.L804F	p.L1043F	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			4	3462	+	Breast(20;0.158)		1043					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.3127C>T	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	9.158	1.017967	0.19355	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.24538	2.18;1.85	5.51	2.61	0.31194	.	0.206934	0.30930	N	0.008590	T	0.38427	0.1040	M	0.70595	2.14	0.21984	N	0.999439	D;B;B	0.63046	0.992;0.003;0.003	P;B;B	0.62298	0.9;0.007;0.003	T	0.25398	-1.0133	10	0.56958	D	0.05	.	2.5569	0.04762	0.3944:0.3556:0.108:0.1421	.	804;804;1043	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	F	1043;804;804	ENSP00000382241:L1043F;ENSP00000432766:L804F	ENSP00000078652:L804F	L	+	1	0	QSER1	32912894	0.007000	0.16637	0.489000	0.27452	0.340000	0.28889	0.512000	0.22755	0.280000	0.22209	0.563000	0.77884	CTT		0.433	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		4	44	0	0	0	1	0	4	44					T	32956318	C	T	32956318	3	4	496	1	0	0	0	0	1	0	0	0	12882	565	20	3	3133	3	QSER1	11	32956318	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	26948697	32956318	102050198	39	32889											
SPRYD5	84767	broad.mit.edu	37	chr11	55659088	55659088	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacctcctctcaggcctatcTtttgctgtagtcacttctga	6	15	6	14	0	4	1	2	1	3	0	6	1	5	1	3	1	1	2	3	1	2	5			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:55659088T>A	ENST00000449290.2	+	7	1431	c.1339T>A	c.(1339-1341)Ttt>Att	p.F447I	TRIM51_ENST00000244891.3_Missense_Mutation_p.F304I	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	447	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CAGGCCTATCTTTTGCTGTAG	0.458																																						ENST00000449290.2																			0											c.(1339-1341)Ttt>Att		tripartite motif-containing 51							108	115	113					11																	55659088		2143	4127	6270	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55659088T>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1339T>A	11.37:g.55659088T>A	ENSP00000395086:p.Phe447Ile					TRIM51_ENST00000244891.3_Missense_Mutation_p.F304I	p.F447I	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			7	1431	+			447			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.1339T>A		.	.	.	.	.	.	.	.	.	.	.	15.31	2.796072	0.50208	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.78003	-1.14;-1.14	1.36	1.36	0.22044	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.75968	0.3922	M	0.85373	2.75	0.09310	N	1	B	0.15473	0.013	B	0.19666	0.026	T	0.65429	-0.6170	9	0.38643	T	0.18	.	5.1325	0.14917	0.0:0.0:0.0:1.0	.	447	Q9BSJ1	SPRY5_HUMAN	I	447;304	ENSP00000395086:F447I;ENSP00000244891:F304I	ENSP00000244891:F304I	F	+	1	0	SPRYD5	55415664	0.427000	0.25514	0.013000	0.15412	0.507000	0.33981	2.535000	0.45685	0.540000	0.28808	0.136000	0.15936	TTT		0.458	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		23	99	0	0	0	1	0	23	99					A	55659088	T	A	55659088	3	1	496	1	0	0	0	0	1	0	0	0	15110	1609	56	5	1361	5	SPRYD5	11	55659088	Missense_Mutation	SNP	T	TCGA-ZG-A9N3-01A-11D-A41K-08	22702770	55659088	79347428	40	32890											
AHNAK	79026	broad.mit.edu	37	chr11	62288998	62288998	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggggcatcgatgtccacTttggggcccttgatgtcaac	7	11	12	11	1	2	1	2	1	0	0	4	2	3	1	2	4	1	1	2	4	1	2			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:62288998T>A	ENST00000378024.4	-	5	13165	c.12891A>T	c.(12889-12891)aaA>aaT	p.K4297N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4297					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGATGTCCACTTTGGGGCCCT	0.512																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(12889-12891)aaA>aaT		AHNAK nucleoprotein							169	171	170					11																	62288998		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62288998T>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12891A>T	11.37:g.62288998T>A	ENSP00000367263:p.Lys4297Asn					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.K4297N	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	13165	-		Melanoma(852;0.155)	4297					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.12891A>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	t	10.62	1.400507	0.25291	.	.	ENSG00000124942	ENST00000378024	T	0.26957	1.7	5.03	3.89	0.44902	.	0.000000	0.43747	D	0.000535	T	0.36138	0.0956	M	0.74546	2.27	0.32548	N	0.532762	D	0.56287	0.975	P	0.51516	0.672	T	0.51260	-0.8728	10	0.45353	T	0.12	.	7.5503	0.27793	0.0:0.2421:0.0:0.7579	.	4297	Q09666	AHNK_HUMAN	N	4297	ENSP00000367263:K4297N	ENSP00000367263:K4297N	K	-	3	2	AHNAK	62045574	0.000000	0.05858	0.999000	0.59377	0.088000	0.18126	-0.870000	0.04228	0.760000	0.33108	0.519000	0.50382	AAA		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		118	217	0	0	0	1	0	118	217					A	62288998	T	A	62288998	3	1	496	1	0	0	0	0	1	0	0	0	414	1606	56	5	4901	5	AHNAK	11	62288998	Missense_Mutation	SNP	T	TCGA-ZG-A9N3-01A-11D-A41K-08	6629910	62288998	72717518	41	32891											
ALG8	79053	broad.mit.edu	37	chr11	77815429	77815429	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagagcagaggaaagaGggaataatgtcctgttgtgg	14	8	16	3	0	0	4	0	1	0	3	1	6	1	6	1	3	1	2	1	3	4	2			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:77815429G>C	ENST00000299626.5	-	11	1320	c.1249C>G	c.(1249-1251)Ctc>Gtc	p.L417V	ALG8_ENST00000532552.2_5'UTR|ALG8_ENST00000376156.3_Missense_Mutation_p.L417V	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	417					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)			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)			AGAGGAAAGAGGGAATAATGT	0.378																																						ENST00000376156.3																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30						c.(1249-1251)Ctc>Gtc		ALG8, alpha-1,3-glucosyltransferase							67	69	68					11																	77815429		2200	4291	6491	SO:0001583	missense	79053				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	g.chr11:77815429G>C	AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	608103	"asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.1249C>G	11.37:g.77815429G>C	ENSP00000299626:p.Leu417Val					ALG8_ENST00000532552.2_5'UTR|ALG8_ENST00000299626.5_Missense_Mutation_p.L417V	p.L417V	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)		11	1252	-	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		417					A6NDW6|O60860	Missense_Mutation	SNP	ENST00000299626.5	37	c.1249C>G	CCDS8258.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882450	0.72294	.	.	ENSG00000159063	ENST00000299626;ENST00000526849;ENST00000376156	D;D;D	0.88431	-2.38;-2.38;-2.38	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.94938	0.8363	M	0.86502	2.82	0.80722	D	1	P;P;P	0.48589	0.624;0.912;0.815	P;P;P	0.62014	0.461;0.897;0.71	D	0.95406	0.8494	10	0.66056	D	0.02	-12.6458	18.8103	0.92056	0.0:0.0:1.0:0.0	.	417;417;417	B3KQL8;Q9BVK2;A6NDW6	.;ALG8_HUMAN;.	V	417;88;417	ENSP00000299626:L417V;ENSP00000434388:L88V;ENSP00000365326:L417V	ENSP00000299626:L417V	L	-	1	0	ALG8	77493077	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.631000	0.74277	2.507000	0.84556	0.655000	0.94253	CTC		0.378	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1	NM_024079		3	7	0	0	0	1	0	3	7					C	77815429	G	C	77815429	3	2	496	1	0	0	0	0	1	0	0	0	523	1000	35	5	402	5	ALG8	11	77815429	Missense_Mutation	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08	15526431	77815429	57191087	42	32892											
FAT3	120114	broad.mit.edu	37	chr11	92086088	92086088	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaatccatgtagtcacTcatgttcctttctcgttgga	9	14	6	12	1	3	0	2	0	1	0	6	1	5	1	3	1	1	3	3	1	3	4			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:92086088T>C	ENST00000298047.6	+	1	827	c.810T>C	c.(808-810)acT>acC	p.T270T	FAT3_ENST00000525166.1_Silent_p.T120T|FAT3_ENST00000409404.2_Silent_p.T270T|FAT3_ENST00000541502.1_Silent_p.T270T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	270	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)				ATGTAGTCACTCATGTTCCTT	0.423										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				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						c.(808-810)acT>acC		FAT atypical cadherin 3							165	157	160					11																	92086088		2024	4196	6220	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086088T>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.810T>C	11.37:g.92086088T>C		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.T270T|FAT3_ENST00000525166.1_Silent_p.T120T|FAT3_ENST00000541502.1_Silent_p.T270T	p.T270T			Q8TDW7	FAT3_HUMAN			1	827	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	270			Cadherin 3.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.810T>C																																																																																					0.423	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		14	84	0	0	0	1	0	14	84					C	92086088	T	C	92086088	2	2	496	1	0	0	0	0	0	0	0	1	5691	1538	54	4		4	FAT3	11	92086088	Silent	SNP	T	TCGA-ZG-A9N3-01A-11D-A41K-08	14270659	92086088	42920428	43	32893											
ATM	472	broad.mit.edu	37	chr11	108143285	108143293	+	In_Frame_Del	DEL	TATTCTCTG	TATTCTCTG	-																															aacaaaggagaggaaatataTattctctgtaagaatggccc																										TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:108143285_108143293delTATTCTCTG	ENST00000452508.2	+	22	3293_3301	c.3104_3112delTATTCTCTG	c.(3103-3114)atattctctgta>ata	p.FSV1036del	ATM_ENST00000278616.4_In_Frame_Del_p.FSV1036del			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1036					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			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)	Caffeine(DB00201)	AGGAAATATATATTCTCTGTAAGAATGGC	0.311			"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)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				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	GRCh37	CD031020|CD064490	ATM	D		c.(3103-3114)ata>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated																																				SO:0001651	inframe_deletion	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	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	g.chr11:108143285_108143293delTATTCTCTG	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3104_3112delTATTCTCTG	11.37:g.108143285_108143293delTATTCTCTG	ENSP00000388058:p.Phe1036_Val1038del	TSP Lung(14;0.12)				ATM_ENST00000452508.2_In_Frame_Del_p.IFSV1035del	p.IFSV1035del	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		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)	21	3489_3497	+		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)	1035					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	In_Frame_Del	DEL	ENST00000452508.2	37	c.3104_3112delTATTCTCTG	CCDS31669.1																																																																																				0.311	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		25	72						25	72	---	---	---	---	-	108143293	TATTCTCTG	-	108143285	7	5	496	1	0	1	0	1	0	0	0	0	1109	1406	49	0	3182	0	ATM	11	108143285	In_Frame_Del	DEL	TATTCTCTG	TCGA-ZG-A9N3-01A-11D-A41K-08	16057197	108143285	26863231	44	32894											
HYOU1	10525	broad.mit.edu	37	chr11	118919563	118919563	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctggggctggagcgacGccctcaggccctgcctctgc	3	7	13	18	2	3	0	1	0	2	0	3	2	3	1	4	4	3	1	4	4	0	0	rs375091924		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:118919563G>A	ENST00000404233.3	-	18	2152	c.2028C>T	c.(2026-2028)ggC>ggT	p.G676G	HYOU1_ENST00000529972.1_Silent_p.G614G|HYOU1_ENST00000525859.1_Silent_p.G614G|HYOU1_ENST00000543287.1_3'UTR	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	676					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			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)		CTGGAGCGACGCCCTCAGGCC	0.612													G|||	1	0.000199681	0	0.0014	5008	,	,		17398	0		0	False		,,,				2504	0					ENST00000404233.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33						c.(2026-2028)ggC>ggT		hypoxia up-regulated 1							60	62	61					11																	118919563		2200	4295	6495	SO:0001819	synonymous_variant	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118919563G>A	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2028C>T	11.37:g.118919563G>A						HYOU1_ENST00000525859.1_Silent_p.G614G|HYOU1_ENST00000529972.1_Silent_p.G614G|HYOU1_ENST00000543287.1_3'UTR	p.G676G	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	18	2152	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	676					A8C1Z0|B7Z909|Q2I204|Q53H25	Silent	SNP	ENST00000404233.3	37	c.2028C>T	CCDS8408.1																																																																																				0.612	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		23	50	0	0	0	1	0	23	50					A	118919563	G	A	118919563	2	1	496	1	0	0	0	0	0	0	0	1	7470	1074	38	1		1	HYOU1	11	118919563	Silent	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08	10776278	118919563	16086953	45	32895											
HSPA8	3312	broad.mit.edu	37	chr11	122929402	122929402	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgtccacagcagagacaTtgagtataccattggcatca	12	11	8	10	0	2	2	1	1	1	1	3	3	3	2	2	1	2	3	2	1	2	5			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:122929402T>C	ENST00000532636.1	-	7	1579	c.1460A>G	c.(1459-1461)aAt>aGt	p.N487S	HSPA8_ENST00000534319.1_Missense_Mutation_p.N251S|HSPA8_ENST00000227378.3_Missense_Mutation_p.N487S|HSPA8_ENST00000526862.1_5'Flank|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.N468S|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.N487S|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000533540.1_Missense_Mutation_p.N341S|HSPA8_ENST00000453788.2_Intron			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	487					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGCAGAGACATTGAGTATACC	0.453																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1459-1461)aAt>aGt		heat shock 70kDa protein 8							146	140	142					11																	122929402		2202	4299	6501	SO:0001583	missense	3312				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	g.chr11:122929402T>C	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1460A>G	11.37:g.122929402T>C	ENSP00000437125:p.Asn487Ser					HSPA8_ENST00000534319.1_Missense_Mutation_p.N251S|HSPA8_ENST00000533540.1_Missense_Mutation_p.N341S|HSPA8_ENST00000532636.1_Missense_Mutation_p.N487S|HSPA8_ENST00000526110.1_Missense_Mutation_p.N468S|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.N487S	p.N487S	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	7	1736	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	487					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1460A>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.199496	0.58126	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.04083	3.71;3.71;3.71;3.71;3.71;3.71;3.71;3.71	4.45	4.45	0.53987	.	0.110642	0.56097	N	0.000029	T	0.08179	0.0204	M	0.71296	2.17	0.80722	D	1	P;P	0.38863	0.65;0.65	B;B	0.34385	0.181;0.181	T	0.06338	-1.0832	10	0.87932	D	0	-25.2708	14.0257	0.64584	0.0:0.0:0.0:1.0	.	487;487	Q53GZ6;P11142	.;HSP7C_HUMAN	S	487;341;487;487;251;468;78;39	ENSP00000437125:N487S;ENSP00000437189:N341S;ENSP00000432083:N487S;ENSP00000227378:N487S;ENSP00000433316:N251S;ENSP00000433584:N468S;ENSP00000435908:N78S;ENSP00000435019:N39S	ENSP00000227378:N487S	N	-	2	0	HSPA8	122434612	1.000000	0.71417	0.923000	0.36655	0.771000	0.43674	8.012000	0.88631	1.760000	0.52011	0.459000	0.35465	AAT		0.453	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			19	136	0	0	0	1	0	19	136					C	122929402	T	C	122929402	3	2	496	1	0	0	0	0	1	0	0	0	7416	1493	52	4	492	4	HSPA8	11	122929402	Missense_Mutation	SNP	T	TCGA-ZG-A9N3-01A-11D-A41K-08	4009839	122929402	12077114	46	32896											
ACCN2	41	broad.mit.edu	37	chr12	50472233	50472233	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccccaccctggggcacCtgcaaagctgttaccatgga	8	7	10	16	0	0	0	0	0	0	0	0	1	0	1	5	3	4	4	5	3	2	1			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr12:50472233C>A	ENST00000447966.2	+	6	1096	c.867C>A	c.(865-867)acC>acA	p.T289T	ASIC1_ENST00000552438.1_Silent_p.T323T|ASIC1_ENST00000228468.4_Silent_p.T289T	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	289					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	CCTGGGGCACCTGCAAAGCTG	0.592																																						ENST00000228468.4																			0											c.(865-867)acC>acA		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)						118	126	123					12																	50472233		2203	4300	6503	SO:0001819	synonymous_variant	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50472233C>A	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.867C>A	12.37:g.50472233C>A						ASIC1_ENST00000552438.1_Silent_p.T323T|ASIC1_ENST00000447966.2_Silent_p.T289T	p.T289T	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			6	1252	+			289					A3KN86|E5KBL7|P78349|Q96CV2	Silent	SNP	ENST00000447966.2	37	c.867C>A	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	C	9.966	1.224277	0.22457	.	.	ENSG00000110881	ENST00000453327	.	.	.	4.27	3.37	0.38596	.	.	.	.	.	T	0.57932	0.2087	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54529	-0.8280	4	.	.	.	-16.6297	8.9293	0.35661	0.1515:0.7647:0.0:0.0839	.	.	.	.	H	157	.	.	P	+	2	0	ACCN2	48758500	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.821000	0.48065	2.372000	0.80975	0.462000	0.41574	CCT		0.592	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		13	49	1	0	4.36969e-10	1	5.02514e-10	13	49					A	50472233	C	A	50472233	2	1	496	1	0	0	0	0	0	0	0	1	129	668	24	5		5	ACCN2	12	50472233	Silent	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08		50472233	83379662	47	32897											
DPY19L2	283417	broad.mit.edu	37	chr12	64041106	64041106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctagtccaaataaattcaTtattcccatgaatgtgcaat	14	15	4	8	0	2	1	1	1	1	0	4	1	4	1	2	0	1	1	2	0	7	6	rs200602630		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr12:64041106T>C	ENST00000324472.4	-	5	811	c.628A>G	c.(628-630)Atg>Gtg	p.M210V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	210					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AATAAATTCATTATTCCCATG	0.318																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(628-630)Atg>Gtg		dpy-19-like 2 (C. elegans)							64	68	67					12																	64041106		2203	4298	6501	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64041106T>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.628A>G	12.37:g.64041106T>C	ENSP00000315988:p.Met210Val					RP11-415I12.3_ENST00000509615.2_RNA	p.M210V	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	5	811	-			210					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.628A>G	CCDS31851.1	137	0.06272893772893773	57	0.11585365853658537	8	0.022099447513812154	55	0.09615384615384616	17	0.022427440633245383	T	2.494	-0.316745	0.05386	.	.	ENSG00000177990	ENST00000324472	T	0.54479	0.57	2.35	1.07	0.20283	.	0.097071	0.64402	U	0.000002	T	0.00440	0.0014	.	.	.	0.80722	D	1	B	0.24258	0.1	B	0.22152	0.038	T	0.04373	-1.0956	8	.	.	.	.	4.6287	0.12491	0.2818:0.0:0.0:0.7182	.	210	Q6NUT2	D19L2_HUMAN	V	210	ENSP00000315988:M210V	.	M	-	1	0	DPY19L2	62327373	1.000000	0.71417	0.995000	0.50966	0.654000	0.38779	3.307000	0.51888	0.118000	0.18165	0.155000	0.16302	ATG		0.318	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		4	79	0	0	0	1	0	4	79					C	64041106	T	C	64041106	3	2	496	1	0	0	0	0	1	0	0	0	4741	1493	52	4	1720	4	DPY19L2	12	64041106	Missense_Mutation	SNP	T	TCGA-ZG-A9N3-01A-11D-A41K-08	13568873	64041106	69810789	48	32898			1	54		2	2	19	N	T_A	4.477116e-05
DPY19L2	283417	broad.mit.edu	37	chr12	64041124	64041124	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattattcccatgaatgtgcAataccaggaggctatgatta	13	12	8	8	0	0	2	0	2	0	0	1	3	1	3	2	2	2	2	2	2	6	5			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr12:64041124A>G	ENST00000324472.4	-	5	793	c.610T>C	c.(610-612)Tgc>Cgc	p.C204R	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	204					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATGAATGTGCAATACCAGGAG	0.303																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(610-612)Tgc>Cgc		dpy-19-like 2 (C. elegans)							71	75	74					12																	64041124		2203	4298	6501	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64041124A>G		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.610T>C	12.37:g.64041124A>G	ENSP00000315988:p.Cys204Arg					RP11-415I12.3_ENST00000509615.2_RNA	p.C204R	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	5	793	-			204					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.610T>C	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.080093	0.00035	.	.	ENSG00000177990	ENST00000324472	T	0.44482	0.92	2.35	1.43	0.22495	.	0.072625	0.53938	N	0.000041	T	0.23210	0.0561	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05241	-1.0897	8	.	.	.	.	5.3731	0.16150	0.1764:0.0:0.8236:0.0	.	204	Q6NUT2	D19L2_HUMAN	R	204	ENSP00000315988:C204R	.	C	-	1	0	DPY19L2	62327391	1.000000	0.71417	0.580000	0.28601	0.408000	0.30992	2.818000	0.48041	0.315000	0.23110	-1.392000	0.01152	TGC		0.303	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		4	86	0	0	0	1	0	4	86					G	64041124	A	G	64041124	3	3	496	1	0	0	0	0	1	0	0	0	4741	130	5	4	1738	4	DPY19L2	12	64041124	Missense_Mutation	SNP	A	TCGA-ZG-A9N3-01A-11D-A41K-08	18	64041124	69810771	49	32899			1	54		2	2	19	N	T_A	4.477116e-05
C12orf26	84190	broad.mit.edu	37	chr12	82780736	82780736	+	Frame_Shift_Del	DEL	C	C	-																															gcccttcgaggaaatcaaaaCcagagaattggtatgtctat																										TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr12:82780736delC	ENST00000248306.3	+	2	483	c.414delC	c.(412-414)aacfs	p.N138fs	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	138							methyltransferase activity (GO:0008168)										GAAATCAAAACCAGAGAATTG	0.353																																						ENST00000248306.3																			0											c.(412-414)aafs		methyltransferase like 25							115	116	116					12																	82780736		2203	4300	6503	SO:0001589	frameshift_variant	84190							g.chr12:82780736delC	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.414delC	12.37:g.82780736delC	ENSP00000248306:p.Asn138fs					METTL25_ENST00000547357.1_3'UTR	p.N138fs	NM_032230.2	NP_115606.2					2	483	+								Q9H5Y3	Frame_Shift_Del	DEL	ENST00000248306.3	37	c.414delC	CCDS9024.1																																																																																				0.353	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		16	104						16	104	---	---	---	---	-	82780736	C	-	82780736	7	5	496	1	0	1	0	1	0	0	0	0	1679	506	18	0	420	0	C12orf26	12	82780736	Frame_Shift_Del	DEL	C	TCGA-ZG-A9N3-01A-11D-A41K-08	18739612	82780736	51071159	50	32900											
C12orf51	283450	broad.mit.edu	37	chr12	112622677	112622677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccttcctggtgaggtggcGgaggatgatgagcagggtga	7	9	19	6	1	0	4	0	4	0	0	2	6	2	6	2	6	1	1	2	6	0	1			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr12:112622677G>A	ENST00000430131.2	-	60	9972	c.8827C>T	c.(8827-8829)Cgc>Tgc	p.R2943C	HECTD4_ENST00000550722.1_Missense_Mutation_p.R3219C|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3193C			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2943					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTGAGGTGGCGGAGGATGATG	0.692																																						ENST00000550722.1																			0											c.(9655-9657)Cgc>Tgc		HECT domain containing E3 ubiquitin protein ligase 4							65	77	73					12																	112622677		2199	4295	6494	SO:0001583	missense	283450							g.chr12:112622677G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8827C>T	12.37:g.112622677G>A	ENSP00000404379:p.Arg2943Cys					HECTD4_ENST00000430131.2_Missense_Mutation_p.R2943C|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3193C	p.R3219C	NM_001109662.3	NP_001103132.3					61	10050	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.9655C>T		.	.	.	.	.	.	.	.	.	.	G	19.61	3.859044	0.71834	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.62105	0.06;0.07;0.05	5.81	4.87	0.63330	.	.	.	.	.	T	0.67581	0.2908	L	0.27053	0.805	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.70461	-0.4865	9	0.87932	D	0	.	14.0019	0.64437	0.0:0.0:0.7411:0.2589	.	2943	Q9Y4D8	K0614_HUMAN	C	3193;2943;3219	ENSP00000366783:R3193C;ENSP00000404379:R2943C;ENSP00000449784:R3219C	ENSP00000366783:R3193C	R	-	1	0	C12orf51	111107060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.903000	0.48711	2.753000	0.94483	0.650000	0.86243	CGC		0.692	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		3	51	0	0	0	1	0	3	51					A	112622677	G	A	112622677	3	1	496	1	0	0	0	0	1	0	0	0	1696	1116	39	2	3227	2	C12orf51	12	112622677	Missense_Mutation	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08	29841941	112622677	21229218	51	32901											
TUBGCP5	114791	broad.mit.edu	37	chr15	22855263	22855263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgaagaacctgcagtgtgCggagagcaccacctgccagg	10	5	14	12	1	0	3	0	1	0	2	0	4	0	3	4	2	5	3	4	2	2	0			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr15:22855263C>A	ENST00000283645.4	+	13	1854	c.1724C>A	c.(1723-1725)gCg>gAg	p.A575E	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.A575E	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	575					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CTGCAGTGTGCGGAGAGCACC	0.562																																						ENST00000283645.4																			0				breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1723-1725)gCg>gAg		tubulin, gamma complex associated protein 5							43	38	39					15																	22855263		2203	4300	6503	SO:0001583	missense	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22855263C>A	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1724C>A	15.37:g.22855263C>A	ENSP00000283645:p.Ala575Glu					TUBGCP5_ENST00000453949.2_Missense_Mutation_p.A575E|TUBGCP5_ENST00000559846.1_3'UTR	p.A575E	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	13	1854	+		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)	575					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.1724C>A	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	C	9.353	1.066017	0.20067	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.06768	3.26;3.26	4.87	-0.819	0.10829	.	0.768042	0.12432	N	0.469500	T	0.04048	0.0113	N	0.24115	0.695	0.09310	N	1	B;B;B	0.29766	0.087;0.087;0.256	B;B;B	0.35353	0.201;0.201;0.201	T	0.39683	-0.9602	10	0.02654	T	1	0.91	1.773	0.03016	0.1342:0.4141:0.1181:0.3337	.	575;575;575	A8K1E4;Q96RT8;E9PB12	.;GCP5_HUMAN;.	E	575	ENSP00000283645:A575E;ENSP00000409217:A575E	ENSP00000283645:A575E	A	+	2	0	TUBGCP5	20406704	0.782000	0.28689	0.000000	0.03702	0.904000	0.53231	1.046000	0.30354	-0.208000	0.10171	0.655000	0.94253	GCG		0.562	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		3	11	1	0	0.115264	1	0.117825	3	11					A	22855263	C	A	22855263	3	1	496	1	0	0	0	0	1	0	0	0	16766	768	27	5	1774	5	TUBGCP5	15	22855263	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08		22855263	79676129	52	32902											
DAPK2	23604	broad.mit.edu	37	chr15	64275809	64275809	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acattgtggtgcagcacctgCcgcaggatgctcacctcccg	7	8	11	15	2	1	0	1	0	0	0	2	1	2	1	4	2	4	4	4	2	0	1			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr15:64275809C>T	ENST00000457488.1	-	3	267	c.237G>A	c.(235-237)cgG>cgA	p.R79R	DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000558069.1_Silent_p.R79R|DAPK2_ENST00000261891.3_Silent_p.R79R	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	79	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		GCAGCACCTGCCGCAGGATGC	0.632																																						ENST00000261891.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11						c.(235-237)cgG>cgA		death-associated protein kinase 2							73	70	71					15																	64275809		2203	4300	6503	SO:0001819	synonymous_variant	23604				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding	g.chr15:64275809C>T	AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.237G>A	15.37:g.64275809C>T						DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000558069.1_Silent_p.R79R|DAPK2_ENST00000457488.1_Silent_p.R79R	p.R79R			Q9UIK4	DAPK2_HUMAN		LUAD - Lung adenocarcinoma(2;0.215)	2	242	-			79			Protein kinase.		E9JGM7|O75892|Q24JS1	Silent	SNP	ENST00000457488.1	37	c.237G>A	CCDS10188.1																																																																																				0.632	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256479.1	NM_014326		3	37	0	0	0	1	0	3	37					T	64275809	C	T	64275809	2	4	496	1	0	0	0	0	0	0	0	1	4236	726	26	3		3	DAPK2	15	64275809	Silent	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	41420546	64275809	38255583	53	32903											
ANP32A	8125	broad.mit.edu	37	chr15	69080172	69080172	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcctacgttgattgtactTaagaattccagttcttcaaa	12	14	7	8	1	2	2	1	1	1	1	3	2	3	2	2	1	2	3	2	1	5	8			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr15:69080172T>C	ENST00000465139.2	-	2	284	c.141A>G	c.(139-141)ttA>ttG	p.L47L	ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_Silent_p.L47L	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	47					gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						TGATTGTACTTAAGAATTCCA	0.453																																						ENST00000465139.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(139-141)ttA>ttG		acidic (leucine-rich) nuclear phosphoprotein 32 family, member A							150	152	151					15																	69080172		2200	4298	6498	SO:0001819	synonymous_variant	8125				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	g.chr15:69080172T>C	AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"ANP32 acidic nuclear phosphoproteins"	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.141A>G	15.37:g.69080172T>C						ANP32A_ENST00000560303.1_Silent_p.L47L|ANP32A_ENST00000483551.2_5'UTR	p.L47L	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN			2	284	-			47					B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Silent	SNP	ENST00000465139.2	37	c.141A>G	CCDS45292.1																																																																																				0.453	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335525.2			36	67	0	0	0	1	0	36	67					C	69080172	T	C	69080172	2	2	496	1	0	0	0	0	0	0	0	1	705	1751	61	4		4	ANP32A	15	69080172	Silent	SNP	T	TCGA-ZG-A9N3-01A-11D-A41K-08	4804363	69080172	33451220	54	32904											
LRRK1	79705	broad.mit.edu	37	chr15	101552216	101552218	+	In_Frame_Del	DEL	TGT	TGT	-																															tctcgtcaatctcttagaaaTgttgtaaagcttccagaaat																								rs201450091		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr15:101552216_101552218delTGT	ENST00000388948.3	+	10	1644_1646	c.1285_1287delTGT	c.(1285-1287)tgtdel	p.C430del	LRRK1_ENST00000284395.5_In_Frame_Del_p.C427del	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCTTAGAAATGTTGTAAAGCTT	0.369																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(1276-1278)del		leucine-rich repeat kinase 1																																				SO:0001651	inframe_deletion	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101552216_101552218delTGT	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1285_1287delTGT	15.37:g.101552219_101552221delTGT	ENSP00000373600:p.Cys430del					LRRK1_ENST00000388948.3_In_Frame_Del_p.C430del	p.C427del			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		11	1676_1678	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		430						In_Frame_Del	DEL	ENST00000388948.3	37	c.1276_1278delTGT	CCDS42086.1																																																																																				0.369	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		13	76						13	76	---	---	---	---	-	101552218	TGT	-	101552216	7	5	496	1	0	1	0	1	0	0	0	0	9032	1464	51	0	1319	0	LRRK1	15	101552216	In_Frame_Del	DEL	TGT	TCGA-ZG-A9N3-01A-11D-A41K-08	32472044	101552216	979176	55	32905											
GRIN2A	2903	broad.mit.edu	37	chr16	9858512	9858512	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggttggccacaaatgtttgGagttcgttcatgttgtctcc	6	15	11	9	2	2	0	1	0	1	0	4	1	2	1	2	3	0	5	2	3	1	5			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr16:9858512G>A	ENST00000396573.2	-	14	3198	c.2889C>T	c.(2887-2889)ctC>ctT	p.L963L	GRIN2A_ENST00000535259.1_Silent_p.L806L|GRIN2A_ENST00000330684.3_Silent_p.L963L|GRIN2A_ENST00000396575.2_Silent_p.L963L|GRIN2A_ENST00000404927.2_Silent_p.L963L|GRIN2A_ENST00000562109.1_Silent_p.L963L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	963					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAAATGTTTGGAGTTCGTTCA	0.443																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(2887-2889)ctC>ctT		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						173	151	158					16																	9858512		2197	4300	6497	SO:0001819	synonymous_variant	0				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	g.chr16:9858512G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2889C>T	16.37:g.9858512G>A						GRIN2A_ENST00000404927.2_Silent_p.L963L|GRIN2A_ENST00000562109.1_Silent_p.L963L|GRIN2A_ENST00000535259.1_Silent_p.L806L|GRIN2A_ENST00000396575.2_Silent_p.L963L|GRIN2A_ENST00000330684.3_Silent_p.L963L	p.L963L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3198	-			963					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.2889C>T	CCDS10539.1																																																																																				0.443	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			27	110	0	0	0	1	0	27	110					A	9858512	G	A	9858512	2	1	496	1	0	0	0	0	0	0	0	1	6779	1161	41	3		3	GRIN2A	16	9858512	Silent	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08		9858512	80496241	56	32906											
DNAH3	55567	broad.mit.edu	37	chr16	20976630	20976630	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgataaacctttcccggAtccgcttcatggtcagtggg	8	12	11	10	2	2	1	2	1	0	0	4	3	4	2	3	3	1	1	3	3	2	4			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr16:20976630A>G	ENST00000261383.3	-	53	8575	c.8576T>C	c.(8575-8577)aTc>aCc	p.I2859T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2859	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCTTTCCCGGATCCGCTTCAT	0.493																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(8575-8577)aTc>aCc		dynein, axonemal, heavy chain 3							91	90	90					16																	20976630		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976630A>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8576T>C	16.37:g.20976630A>G	ENSP00000261383:p.Ile2859Thr					DNAH3_ENST00000415178.1_3'UTR	p.I2859T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	8575	-			2859			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.8576T>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	19.01	3.744201	0.69418	.	.	ENSG00000158486	ENST00000261383	T	0.77877	-1.13	5.76	5.76	0.90799	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.91935	0.7446	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94262	0.7503	10	0.72032	D	0.01	.	16.0816	0.81007	1.0:0.0:0.0:0.0	.	2859	Q8TD57	DYH3_HUMAN	T	2859	ENSP00000261383:I2859T	ENSP00000261383:I2859T	I	-	2	0	DNAH3	20884131	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.310000	0.96267	2.211000	0.71520	0.454000	0.30748	ATC		0.493	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		39	90	0	0	0	1	0	39	90					G	20976630	A	G	20976630	3	3	496	1	0	0	0	0	1	0	0	0	4603	333	12	4	3813	4	DNAH3	16	20976630	Missense_Mutation	SNP	A	TCGA-ZG-A9N3-01A-11D-A41K-08	11118118	20976630	69378123	57	32907											
NOD2	64127	broad.mit.edu	37	chr16	50733808	50733808	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcatgggagcggggtttCgtcagccagtatgaatgtga	8	10	16	7	2	1	2	1	2	0	0	2	3	1	3	1	4	2	3	1	4	2	2	rs565504727	byFrequency	TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr16:50733808C>T	ENST00000300589.2	+	2	588	c.483C>T	c.(481-483)ttC>ttT	p.F161F	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	161	CARD 2. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCGGGGTTTCGTCAGCCAGT	0.582													C|||	13	0.00259585	0	0	5008	,	,		19476	0		0	False		,,,				2504	0.0133					ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(481-483)ttC>ttT		nucleotide-binding oligomerization domain containing 2							73	64	67					16																	50733808		2198	4300	6498	SO:0001819	synonymous_variant	64127				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	g.chr16:50733808C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.483C>T	16.37:g.50733808C>T						NOD2_ENST00000526417.2_3'UTR	p.F161F	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			2	588	+		all_cancers(37;0.0156)	161			CARD 2.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.483C>T	CCDS10746.1																																																																																				0.582	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		7	21	0	0	0	1	0	7	21					T	50733808	C	T	50733808	2	4	496	1	0	0	0	0	0	0	0	1	10517	883	31	2		2	NOD2	16	50733808	Silent	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	29757178	50733808	39620945	58	32908											
CENPT	80152	broad.mit.edu	37	chr16	67865131	67865131	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccttacttggaggagccaGggaagtatctcgcagatccc	11	8	11	11	1	1	1	0	0	1	1	3	4	2	4	3	3	3	2	3	3	4	3			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr16:67865131G>A	ENST00000562787.1	-	10	1239	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L	CENPT_ENST00000440851.2_Silent_p.L231L|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000219172.3_Silent_p.L231L|CENPT_ENST00000564817.1_Silent_p.L231L|CENPT_ENST00000445712.2_Silent_p.L128L	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	231	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GGAGGAGCCAGGGAAGTATCT	0.602																																						ENST00000562787.1																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(691-693)Ctg>Ttg		centromere protein T							82	89	87					16																	67865131		1974	4168	6142	SO:0001819	synonymous_variant	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67865131G>A	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.691C>T	16.37:g.67865131G>A						CENPT_ENST00000440851.2_Silent_p.L231L|CENPT_ENST00000564817.1_Silent_p.L231L|CENPT_ENST00000445712.2_Silent_p.L128L|CENPT_ENST00000219172.3_Silent_p.L231L|CENPT_ENST00000562947.1_5'UTR	p.L231L	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	10	1239	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	231					Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	ENST00000562787.1	37	c.691C>T	CCDS42182.1																																																																																				0.602	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		4	29	0	0	0	1	0	4	29					A	67865131	G	A	67865131	2	1	496	1	0	0	0	0	0	0	0	1	3242	991	35	3		3	CENPT	16	67865131	Silent	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08	17131323	67865131	22489622	59	32909											
ERBB2	2064	broad.mit.edu	37	chr17	37884140	37884140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacaccccagggaggagctgCccctcagccccaccctcctc	7	4	9	21	0	1	0	1	0	0	0	3	3	2	2	8	2	3	1	8	2	0	0	rs373605104		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr17:37884140C>T	ENST00000269571.5	+	27	3770	c.3611C>T	c.(3610-3612)gCc>gTc	p.A1204V	ERBB2_ENST00000445658.2_Missense_Mutation_p.A928V|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.A1174V|ERBB2_ENST00000406381.2_Missense_Mutation_p.A1174V|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000541774.1_Missense_Mutation_p.A1189V|ERBB2_ENST00000540147.1_Missense_Mutation_p.A1174V|ERBB2_ENST00000584450.1_3'UTR			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1204					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GGAGGAGCTGCCCCTCAGCCC	0.622		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"A, Mis, O"	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"			E			"breast, ovarian, other tumour types, NSCLC, gastric"		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(3520-3522)gCc>gTc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						53	61	58					17																	37884140		2203	4300	6503	SO:0001583	missense	2064				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	g.chr17:37884140C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3611C>T	17.37:g.37884140C>T	ENSP00000269571:p.Ala1204Val	TCGA GBM(5;<1E-08)				ERBB2_ENST00000445658.2_Missense_Mutation_p.A928V|ERBB2_ENST00000540147.1_Missense_Mutation_p.A1174V|ERBB2_ENST00000541774.1_Missense_Mutation_p.A1189V|ERBB2_ENST00000269571.5_Missense_Mutation_p.A1204V|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000584601.1_Missense_Mutation_p.A1174V	p.A1174V	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	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)	29	4031	+	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)	1204					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.3521C>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	2.269	-0.367459	0.05069	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	4.21	4.21	0.49690	.	.	.	.	.	T	0.25457	0.0619	N	0.25647	0.755	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.001;0.004;0.002	T	0.06197	-1.0840	9	0.05351	T	0.99	.	11.9466	0.52932	0.0:1.0:0.0:0.0	.	928;1189;1204	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	V	1174;1189;928;1204;1174	ENSP00000385185:A1174V;ENSP00000446466:A1189V;ENSP00000404047:A928V;ENSP00000269571:A1204V;ENSP00000443562:A1174V	ENSP00000269571:A1204V	A	+	2	0	ERBB2	35137666	0.006000	0.16342	0.993000	0.49108	0.571000	0.35966	0.219000	0.17641	2.170000	0.68504	0.563000	0.77884	GCC		0.622	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			6	699	0	0	0	1	0	6	699					T	37884140	C	T	37884140	3	4	496	1	0	0	0	0	1	0	0	0	5206	739	26	3	3717	3	ERBB2	17	37884140	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08		37884140	43311070	60	32910											
NR1D1	9572	broad.mit.edu	37	chr17	38249344	38249344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgggcgggtcactgggCgtccacccggaaggacagca	7	3	17	14	5	1	0	1	0	0	0	2	2	2	2	3	6	1	1	3	6	1	0			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr17:38249344C>T	ENST00000246672.3	-	8	2467	c.1837G>A	c.(1837-1839)Gcc>Acc	p.A613T	THRA_ENST00000584985.1_Intron|THRA_ENST00000394121.4_Silent_p.G394G|THRA_ENST00000264637.4_Silent_p.G394G	NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	613	Ligand-binding.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GGTCACTGGGCGTCCACCCGG	0.592																																						ENST00000246672.3																			0				endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11						c.(1837-1839)Gcc>Acc		nuclear receptor subfamily 1, group D, member 1							48	51	50					17																	38249344		2203	4300	6503	SO:0001583	missense	9572				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	g.chr17:38249344C>T	X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"Nuclear hormone receptors"	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.1837G>A	17.37:g.38249344C>T	ENSP00000246672:p.Ala613Thr					THRA_ENST00000394121.4_Silent_p.G394G|THRA_ENST00000584985.1_Intron|THRA_ENST00000264637.4_Silent_p.G394G	p.A613T	NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN			8	2467	-	Colorectal(19;0.000442)		613					Q0P5Z4|Q15304	Missense_Mutation	SNP	ENST00000246672.3	37	c.1837G>A	CCDS11361.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853551	0.51270	.	.	ENSG00000126368	ENST00000246672	D	0.91631	-2.88	5.05	5.05	0.67936	.	0.000000	0.56097	D	0.000025	D	0.89774	0.6812	.	.	.	0.47905	D	0.999545	D	0.57899	0.981	B	0.39876	0.312	D	0.91527	0.5239	9	0.72032	D	0.01	.	17.3484	0.87316	0.0:1.0:0.0:0.0	.	613	P20393	NR1D1_HUMAN	T	613	ENSP00000246672:A613T	ENSP00000246672:A613T	A	-	1	0	NR1D1	35502870	0.927000	0.31430	1.000000	0.80357	0.998000	0.95712	0.499000	0.22546	2.618000	0.88619	0.563000	0.77884	GCC		0.592	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1			12	65	0	0	0	1	0	12	65					T	38249344	C	T	38249344	3	4	496	1	0	0	0	0	1	0	0	0	10615	768	27	1	11	1	NR1D1	17	38249344	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	365204	38249344	42945866	61	32911											
KRT37	8688	broad.mit.edu	37	chr17	39579113	39579113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggccttggccagggtcgCgtcatccaggagcttctgcg	4	9	15	13	4	2	0	1	0	1	0	5	1	3	1	3	4	2	1	3	4	0	2	rs149307038		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr17:39579113C>T	ENST00000225550.3	-	3	648	c.649G>A	c.(649-651)Gcg>Acg	p.A217T	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	217	Coil 1B.|Rod.		A -> V (in dbSNP:rs16966811).			extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCCAGGGTCGCGTCATCCAGG	0.652													C|||	1	0.000199681	8e-04	0	5008	,	,		18812	0		0	False		,,,				2504	0					ENST00000225550.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(649-651)Gcg>Acg		keratin 37		C	THR/ALA	1,4405		0,1,2202	79	68	72		649	-3.4	0.7	17	dbSNP_134	72	0,8600		0,0,4300	yes	missense	KRT37	NM_003770.4	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	217/450	39579113	1,13005	2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39579113C>T	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"-", "Intermediate filaments type I, keratins (acidic)"	6455	protein-coding gene	gene with protein product		604541	"keratin, hair, acidic, 7"	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.649G>A	17.37:g.39579113C>T	ENSP00000225550:p.Ala217Thr					AC003958.2_ENST00000432258.1_RNA	p.A217T	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN			3	648	-		Breast(137;0.000496)	217		A -> V (in dbSNP:rs16966811).	Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000225550.3	37	c.649G>A	CCDS32653.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	11.41	1.631860	0.29068	2.27E-4	0.0	ENSG00000108417	ENST00000225550	D	0.89875	-2.58	4.86	-3.43	0.04810	Filament (1);	1.577570	0.04549	N	0.389541	T	0.72630	0.3484	N	0.04320	-0.23	0.09310	N	1	B	0.20052	0.041	B	0.12837	0.008	T	0.61987	-0.6949	10	0.72032	D	0.01	.	2.3393	0.04255	0.1609:0.1195:0.4085:0.3111	.	217	O76014	KRT37_HUMAN	T	217	ENSP00000225550:A217T	ENSP00000225550:A217T	A	-	1	0	KRT37	36832639	0.000000	0.05858	0.688000	0.30117	0.223000	0.24884	-0.195000	0.09546	-0.135000	0.11495	-0.136000	0.14681	GCG		0.652	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		22	21	0	0	0	1	0	22	21					T	39579113	C	T	39579113	3	4	496	1	0	0	0	0	1	0	0	0	8474	768	27	1	720	1	KRT37	17	39579113	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	1329769	39579113	41616097	62	32912											
SP2	6668	broad.mit.edu	37	chr17	45993545	45993545	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccagccatctcccttagcCctgcttgctgcaacatgtag	7	11	7	16	0	1	0	0	0	1	0	3	0	2	0	4	0	6	4	4	0	3	3			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr17:45993545C>G	ENST00000376741.4	+	3	245	c.108C>G	c.(106-108)gcC>gcG	p.A36A	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	36					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CTCCCTTAGCCCTGCTTGCTG	0.577																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(106-108)gcC>gcG		Sp2 transcription factor							138	150	146					17																	45993545		2203	4300	6503	SO:0001819	synonymous_variant	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:45993545C>G		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.108C>G	17.37:g.45993545C>G						AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA	p.A36A	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN			3	245	+			36					A6NK74	Silent	SNP	ENST00000376741.4	37	c.108C>G	CCDS11521.2																																																																																				0.577	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		49	175	0	0	0	1	0	49	175					G	45993545	C	G	45993545	2	3	496	1	0	0	0	0	0	0	0	1	14964	610	22	5		5	SP2	17	45993545	Silent	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	6414432	45993545	35201665	63	32913											
KCNJ16	3773	broad.mit.edu	37	chr17	68128240	68128240	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaagaatgagctattaCggcagcagctatcatattat	15	10	8	8	1	1	2	1	1	0	1	1	2	1	2	0	1	5	5	0	1	7	5	rs377652819		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr17:68128240C>T	ENST00000589377.1	+	2	175	c.12C>T	c.(10-12)taC>taT	p.Y4Y	KCNJ16_ENST00000586462.1_Silent_p.Y43Y|KCNJ16_ENST00000392671.1_Silent_p.Y4Y|KCNJ16_ENST00000392670.1_Silent_p.Y4Y|KCNJ16_ENST00000585558.1_Silent_p.Y39Y|KCNJ16_ENST00000283936.1_Silent_p.Y4Y	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	4					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TGAGCTATTACGGCAGCAGCT	0.428																																						ENST00000585558.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(115-117)taC>taT		potassium inwardly-rectifying channel, subfamily J, member 16		C	,,	0,4406		0,0,2203	53	49	50		12,12,12	3.4	1	17		50	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	KCNJ16	NM_018658.1,NM_170741.1,NM_170742.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	4/419,4/419,4/419	68128240	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128240C>T	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.12C>T	17.37:g.68128240C>T						KCNJ16_ENST00000586462.1_Silent_p.Y43Y|KCNJ16_ENST00000392670.1_Silent_p.Y4Y|KCNJ16_ENST00000283936.1_Silent_p.Y4Y|KCNJ16_ENST00000589377.1_Silent_p.Y4Y|KCNJ16_ENST00000392671.1_Silent_p.Y4Y	p.Y39Y			Q9NPI9	IRK16_HUMAN			4	505	+	Breast(10;2.96e-09)		4						Silent	SNP	ENST00000589377.1	37	c.117C>T	CCDS11687.1																																																																																				0.428	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		9	38	0	0	0	1	0	9	38					T	68128240	C	T	68128240	2	4	496	1	0	0	0	0	0	0	0	1	8050	547	19	1		1	KCNJ16	17	68128240	Silent	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	22134695	68128240	13066970	64	32914											
HDHD2	84064	broad.mit.edu	37	chr18	44660924	44660924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgggtctgacttgtttccGctctagtaaacttctggctg	6	15	10	10	1	3	1	0	1	3	0	4	1	4	1	1	2	1	4	1	2	3	5	rs143514214	byFrequency	TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr18:44660924G>A	ENST00000300605.6	-	3	405	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	85			R -> Q (in dbSNP:rs7230131).			extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						ACTTGTTTCCGCTCTAGTAAA	0.383													G|||	5	0.000998403	0	0	5008	,	,		18031	0		0	False		,,,				2504	0.0051					ENST00000300605.6																			0				kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						c.(253-255)Cgg>Tgg		haloacid dehalogenase-like hydrolase domain containing 2		G	TRP/ARG	0,4406		0,0,2203	113	111	111		253	3.1	1	18	dbSNP_134	111	9,8591	6.4+/-24.3	0,9,4291	yes	missense	HDHD2	NM_032124.4	101	0,9,6494	AA,AG,GG		0.1047,0.0,0.0692	probably-damaging	85/260	44660924	9,12997	2203	4300	6503	SO:0001583	missense	84064						hydrolase activity	g.chr18:44660924G>A	AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220			25364	protein-coding gene	gene with protein product						11230166	Standard	NM_032124		Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.253C>T	18.37:g.44660924G>A	ENSP00000300605:p.Arg85Trp					HDHD2_ENST00000587841.1_Intron	p.R85W	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN			3	405	-			85		R -> Q (in dbSNP:rs7230131).			A8K7T3|Q96NV4	Missense_Mutation	SNP	ENST00000300605.6	37	c.253C>T	CCDS32829.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976218	0.74360	0.0	0.001047	ENSG00000167220	ENST00000300605	T	0.32753	1.44	5.97	3.09	0.35607	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.197776	0.44688	D	0.000433	T	0.33644	0.0870	M	0.64997	1.995	0.26610	N	0.972862	P	0.51057	0.941	B	0.43508	0.422	T	0.35375	-0.9791	10	0.87932	D	0	2.3857	13.2689	0.60150	0.0:0.2363:0.6565:0.1072	.	85	Q9H0R4	HDHD2_HUMAN	W	85	ENSP00000300605:R85W	ENSP00000300605:R85W	R	-	1	2	HDHD2	42914922	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.495000	0.66912	1.527000	0.49086	0.655000	0.94253	CGG		0.383	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	NM_032124		3	64	0	0	0	1	0	3	64					A	44660924	G	A	44660924	3	1	496	1	0	0	0	0	1	0	0	0	7023	1086	38	1	546	1	HDHD2	18	44660924	Missense_Mutation	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08		44660924	33416324	65	32915											
CNDP1	84735	broad.mit.edu	37	chr18	72245549	72245549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcacatgaatgtgtctgCggtggaaaaacaggtaacaa	14	8	10	9	1	2	1	1	1	1	0	2	2	2	2	1	3	3	1	1	3	5	1	rs536184259		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr18:72245549C>T	ENST00000358821.3	+	9	1382	c.1154C>T	c.(1153-1155)gCg>gTg	p.A385V	CNDP1_ENST00000582365.1_Missense_Mutation_p.A342V	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	385						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		AATGTGTCTGCGGTGGAAAAA	0.443													T|||	1	0.000199681	8e-04	0	5008	,	,		21395	0		0	False		,,,				2504	0				Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1024-1026)gCg>gTg		carnosine dipeptidase 1 (metallopeptidase M20 family)							128	120	123					18																	72245549		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72245549C>T		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"carnosinase 1", "glutamate carboxypeptidase-like protein 2"	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1154C>T	18.37:g.72245549C>T	ENSP00000351682:p.Ala385Val					CNDP1_ENST00000358821.3_Missense_Mutation_p.A385V	p.A342V			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	8	1091	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	385					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.1025C>T	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	T	6.471	0.455071	0.12283	.	.	ENSG00000150656	ENST00000358821	T	0.59224	0.28	5.64	3.29	0.37713	Peptidase M20, dimerisation (1);	0.497997	0.22945	N	0.053740	T	0.20981	0.0505	N	0.00661	-1.28	0.19575	N	0.999966	B	0.06786	0.001	B	0.01281	0.0	T	0.17961	-1.0352	10	0.28530	T	0.3	-15.8861	4.5694	0.12202	0.1613:0.2205:0.0:0.6182	.	385	Q96KN2	CNDP1_HUMAN	V	385	ENSP00000351682:A385V	ENSP00000351682:A385V	A	+	2	0	CNDP1	70396529	0.917000	0.31117	0.517000	0.27799	0.189000	0.23516	0.933000	0.28897	0.113000	0.18004	-0.269000	0.10298	GCG		0.443	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		34	67	0	0	0	1	0	34	67					T	72245549	C	T	72245549	3	4	496	1	0	0	0	0	1	0	0	0	3593	768	27	1	1188	1	CNDP1	18	72245549	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	27584625	72245549	5831699	66	32916											
ZNRF4	148066	broad.mit.edu	37	chr19	5455959	5455959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccccgcgactgggcaacCgctctctgggcgccatcgtg	5	6	14	16	5	1	0	0	0	1	0	3	1	1	0	4	3	1	2	4	3	1	0			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr19:5455959C>T	ENST00000222033.4	+	1	534	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	153	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACTGGGCAACCGCTCTCTGGG	0.692																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(457-459)Cgc>Tgc		zinc and ring finger 4							29	34	32					19																	5455959		2125	4230	6355	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5455959C>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.457C>T	19.37:g.5455959C>T	ENSP00000222033:p.Arg153Cys						p.R153C	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	534	+			153			PA.		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.457C>T	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	8.541	0.873163	0.17322	.	.	ENSG00000105428	ENST00000222033	T	0.04970	3.52	4.65	-7.22	0.01485	.	0.992853	0.08178	U	0.985923	T	0.01905	0.0060	N	0.02539	-0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.46119	-0.9214	10	0.39692	T	0.17	-5.3526	3.8169	0.08819	0.1865:0.2961:0.4193:0.0981	.	153	Q8WWF5	ZNRF4_HUMAN	C	153	ENSP00000222033:R153C	ENSP00000222033:R153C	R	+	1	0	ZNRF4	5406959	0.000000	0.05858	0.051000	0.19133	0.168000	0.22595	-0.591000	0.05753	-0.708000	0.05015	-0.424000	0.05967	CGC		0.692	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		4	36	0	0	0	1	0	4	36					T	5455959	C	T	5455959	3	4	496	1	0	0	0	0	1	0	0	0	18211	652	23	2	459	2	ZNRF4	19	5455959	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08		5455959	53673024	67	32917											
KLHL26	55295	broad.mit.edu	37	chr19	18775073	18775073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgctttccccgcagcaCggccgacaagaacggggccc	7	5	11	18	4	1	1	0	0	1	1	2	2	2	1	5	3	3	3	5	3	2	1	rs528604281		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr19:18775073C>T	ENST00000300976.4	+	2	176	c.86C>T	c.(85-87)aCg>aTg	p.T29M	KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000595182.1_Missense_Mutation_p.T29M|KLHL26_ENST00000599006.1_Missense_Mutation_p.T29M	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	29										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCCCGCAGCACGGCCGACAAG	0.622													C|||	1	0.000199681	0	0.0014	5008	,	,		14005	0		0	False		,,,				2504	0					ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(85-87)aCg>aTg		kelch-like family member 26							87	101	97					19																	18775073		2203	4300	6503	SO:0001583	missense	55295							g.chr19:18775073C>T		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.86C>T	19.37:g.18775073C>T	ENSP00000300976:p.Thr29Met					KLHL26_ENST00000595182.1_Missense_Mutation_p.T29M|KLHL26_ENST00000599006.1_Missense_Mutation_p.T29M|KLHL26_ENST00000596843.1_3'UTR	p.T29M	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			2	176	+			29					Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.86C>T	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	C	4.548	0.101695	0.08731	.	.	ENSG00000167487	ENST00000431920;ENST00000300976	T	0.76060	-0.99	4.14	3.08	0.35506	.	0.358888	0.31031	N	0.008396	T	0.50871	0.1641	N	0.08118	0	0.32306	N	0.564338	B	0.02656	0.0	B	0.01281	0.0	T	0.51068	-0.8752	10	0.41790	T	0.15	.	7.4264	0.27102	0.0:0.1156:0.0:0.8844	.	29	Q53HC5	KLH26_HUMAN	M	29	ENSP00000300976:T29M	ENSP00000300976:T29M	T	+	2	0	KLHL26	18636073	1.000000	0.71417	0.953000	0.39169	0.022000	0.10575	2.475000	0.45162	0.570000	0.29347	0.561000	0.74099	ACG		0.622	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		18	102	0	0	0	1	0	18	102					T	18775073	C	T	18775073	3	4	496	1	0	0	0	0	1	0	0	0	8381	536	19	1	92	1	KLHL26	19	18775073	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	13319114	18775073	40353910	68	32918											
ITPKC	80271	broad.mit.edu	37	chr19	41223697	41223697	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaaaagagccaagtgcTgatggctcctggaaagaatt	13	8	10	10	0	1	3	1	1	0	2	2	4	2	4	3	2	2	2	3	2	5	1			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr19:41223697T>C	ENST00000263370.2	+	1	690	c.657T>C	c.(655-657)gcT>gcC	p.A219A	ADCK4_ENST00000324464.3_5'Flank|ADCK4_ENST00000243583.6_5'Flank|ADCK4_ENST00000450541.1_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	219					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGCCAAGTGCTGATGGCTCCT	0.517																																						ENST00000263370.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14						c.(655-657)gcT>gcC		inositol-trisphosphate 3-kinase C							36	39	38					19																	41223697		2203	4300	6503	SO:0001819	synonymous_variant	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41223697T>C	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"inositol 1,4,5-trisphosphate 3-kinase C"			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.657T>C	19.37:g.41223697T>C							p.A219A	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	690	+			219					Q9UE25|Q9Y475	Silent	SNP	ENST00000263370.2	37	c.657T>C	CCDS12563.1																																																																																				0.517	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		3	20	0	0	0	1	0	3	20					C	41223697	T	C	41223697	2	2	496	1	0	0	0	0	0	0	0	1	7919	1567	55	4		4	ITPKC	19	41223697	Silent	SNP	T	TCGA-ZG-A9N3-01A-11D-A41K-08	22448624	41223697	17905286	69	32919											
RELB	5971	broad.mit.edu	37	chr19	45525436	45525436	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgacggcatctgcagggtGcggctccggcctcacgtcag	6	6	14	15	5	3	0	2	0	1	0	4	1	4	0	3	4	2	3	3	4	0	0			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr19:45525436G>A	ENST00000221452.8	+	5	780	c.630G>A	c.(628-630)gtG>gtA	p.V210V	RELB_ENST00000505236.1_Silent_p.V207V|RELB_ENST00000540120.1_Silent_p.V210V	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	210	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TCTGCAGGGTGCGGCTCCGGC	0.652																																						ENST00000221452.8																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12						c.(628-630)gtG>gtA		v-rel avian reticuloendotheliosis viral oncogene homolog B							43	50	48					19																	45525436		2077	4206	6283	SO:0001819	synonymous_variant	5971					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:45525436G>A	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.630G>A	19.37:g.45525436G>A						RELB_ENST00000540120.1_Silent_p.V210V|RELB_ENST00000505236.1_Silent_p.V207V	p.V210V	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00986)	5	780	+		Ovarian(192;0.0728)|all_neural(266;0.112)	210			RHD.		Q6GTX7|Q9UEI7	Silent	SNP	ENST00000221452.8	37	c.630G>A	CCDS46110.1																																																																																				0.652	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			15	28	0	0	0	1	0	15	28					A	45525436	G	A	45525436	2	1	496	1	0	0	0	0	0	0	0	1	13217	1306	46	3		3	RELB	19	45525436	Silent	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08	4301739	45525436	13603547	70	32920											
SIGLEC8	27181	broad.mit.edu	37	chr19	51955819	51955819	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctccttcctcccctgaCgagggggcaacagctggggg	6	7	14	14	1	1	1	0	1	1	0	4	2	3	1	4	4	3	3	4	4	1	1	rs200706657		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr19:51955819C>T	ENST00000321424.3	-	7	1380	c.1314G>A	c.(1312-1314)tcG>tcA	p.S438S	SIGLEC8_ENST00000340550.5_Silent_p.S345S|SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Silent_p.S329S	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	438					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCTCCCCTGACGAGGGGGCAA	0.577																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(1312-1314)tcG>tcA		sialic acid binding Ig-like lectin 8							45	46	46					19																	51955819		2203	4300	6503	SO:0001819	synonymous_variant	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51955819C>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1314G>A	19.37:g.51955819C>T						SIGLEC8_ENST00000340550.5_Silent_p.S345S|SIGLEC8_ENST00000430817.1_Silent_p.S329S	p.S438S	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	7	1380	-		all_neural(266;0.0199)	438					Q7Z728	Silent	SNP	ENST00000321424.3	37	c.1314G>A	CCDS33086.1																																																																																				0.577	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		17	28	0	0	0	1	0	17	28					T	51955819	C	T	51955819	2	4	496	1	0	0	0	0	0	0	0	1	14314	523	19	1		1	SIGLEC8	19	51955819	Silent	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	6430383	51955819	7173164	71	32921											
USP29	57663	broad.mit.edu	37	chr19	57642355	57642355	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagagaccctcaatcagtCtacagaattaagacttcaaa	18	8	6	9	0	4	4	3	0	1	4	4	5	4	4	1	0	1	0	1	0	6	3			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr19:57642355C>A	ENST00000254181.4	+	4	2766	c.2312C>A	c.(2311-2313)tCt>tAt	p.S771Y	USP29_ENST00000598197.1_Missense_Mutation_p.S771Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	771	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			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)		CTCAATCAGTCTACAGAATTA	0.453																																						ENST00000254181.4																			0				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						c.(2311-2313)tCt>tAt		ubiquitin specific peptidase 29							50	42	45					19																	57642355		2203	4300	6503	SO:0001583	missense	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642355C>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2312C>A	19.37:g.57642355C>A	ENSP00000254181:p.Ser771Tyr					USP29_ENST00000598197.1_Missense_Mutation_p.S771Y	p.S771Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2766	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	771						Missense_Mutation	SNP	ENST00000254181.4	37	c.2312C>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	6.089	0.384765	0.11524	.	.	ENSG00000131864	ENST00000254181	T	0.47869	0.83	2.04	0.993	0.19825	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.27313	0.0670	N	0.19112	0.55	0.09310	N	1	B	0.29432	0.244	B	0.22880	0.042	T	0.19289	-1.0310	9	0.66056	D	0.02	-1.3547	4.2632	0.10750	0.0:0.7942:0.0:0.2058	.	771	Q9HBJ7	UBP29_HUMAN	Y	771	ENSP00000254181:S771Y	ENSP00000254181:S771Y	S	+	2	0	USP29	62334167	0.033000	0.19621	0.000000	0.03702	0.002000	0.02628	0.970000	0.29383	0.403000	0.25479	0.591000	0.81541	TCT		0.453	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			4	27	1	0	0.000602214	1	0.000651809	4	27					A	57642355	C	A	57642355	3	1	496	1	0	0	0	0	1	0	0	0	17056	913	32	5	2314	5	USP29	19	57642355	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08	5686536	57642355	1486628	72	32922											
C20orf194	25943	broad.mit.edu	37	chr20	3259591	3259591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaagacatttaggaaagaGaaatctagggggaaaaaagg	19	6	13	3	0	2	2	1	0	1	2	2	5	2	4	0	4	0	0	0	4	8	3			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr20:3259591G>A	ENST00000252032.9	-	29	2684	c.2617C>T	c.(2617-2619)Ctc>Ttc	p.L873F	C20orf194_ENST00000453730.2_3'UTR|RN7SL839P_ENST00000582912.1_RNA	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	873										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TTAGGAAAGAGAAATCTAGGG	0.368																																						ENST00000252032.9																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(2617-2619)Ctc>Ttc		chromosome 20 open reading frame 194							77	76	76					20																	3259591		1856	4093	5949	SO:0001583	missense	25943							g.chr20:3259591G>A	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2617C>T	20.37:g.3259591G>A	ENSP00000252032:p.Leu873Phe					C20orf194_ENST00000453730.2_3'UTR	p.L873F	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			29	2684	-			873					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.2617C>T	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740113	0.69304	.	.	ENSG00000088854	ENST00000252032	T	0.19938	2.11	5.93	5.93	0.95920	.	0.147483	0.47093	D	0.000249	T	0.45816	0.1361	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.967	T	0.20371	-1.0277	10	0.66056	D	0.02	.	18.5344	0.91004	0.0:0.0:1.0:0.0	.	612;873	Q0IIP3;Q5TEA3	.;CT194_HUMAN	F	873	ENSP00000252032:L873F	ENSP00000252032:L873F	L	-	1	0	C20orf194	3207591	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.746000	0.47467	2.826000	0.97356	0.655000	0.94253	CTC		0.368	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		8	104	0	0	0	1	0	8	104					A	3259591	G	A	3259591	3	1	496	1	0	0	0	0	1	0	0	0	2099	942	33	3	952	3	C20orf194	20	3259591	Missense_Mutation	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08		3259591	59765929	73	32923											
SSTR4	6754	broad.mit.edu	37	chr20	23016578	23016578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtggtgcaccctctgcGcgcggcgacctaccggcggc	3	5	16	17	7	1	0	0	0	1	0	1	1	1	0	4	5	3	1	4	5	1	1	rs542657849		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr20:23016578G>A	ENST00000255008.3	+	1	522	c.458G>A	c.(457-459)cGc>cAc	p.R153H	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	153					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			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)					CACCCTCTGCGCGCGGCGACC	0.667													G|||	1	0.000199681	0	0	5008	,	,		15103	0		0	False		,,,				2504	0.001				Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(457-459)cGc>cAc		somatostatin receptor 4							52	55	54					20																	23016578		2202	4294	6496	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016578G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.458G>A	20.37:g.23016578G>A	ENSP00000255008:p.Arg153His					RP4-753D10.3_ENST00000440921.1_RNA	p.R153H	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	522	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		153					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.458G>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534143	0.64972	.	.	ENSG00000132671	ENST00000255008	T	0.39406	1.08	3.87	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.103756	0.36972	U	0.002306	T	0.46814	0.1412	M	0.68317	2.08	0.40933	D	0.984405	P	0.43885	0.82	B	0.43680	0.427	T	0.58983	-0.7539	10	0.87932	D	0	.	14.5253	0.67884	0.0:0.0:1.0:0.0	.	153	P31391	SSR4_HUMAN	H	153	ENSP00000255008:R153H	ENSP00000255008:R153H	R	+	2	0	SSTR4	22964578	0.017000	0.18338	0.790000	0.31976	0.759000	0.43091	1.244000	0.32778	1.971000	0.57363	0.655000	0.94253	CGC		0.667	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			13	94	0	0	0	1	0	13	94					A	23016578	G	A	23016578	3	1	496	1	0	0	0	0	1	0	0	0	15199	1087	38	1	460	1	SSTR4	20	23016578	Missense_Mutation	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08	19756987	23016578	40008942	74	32924											
UBE2C	11065	broad.mit.edu	37	chr20	44444280	44444280	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacgccctgctatcaccccaAcgtggacacccagggtaaca	11	5	8	17	2	1	0	1	0	0	0	1	1	1	1	4	2	3	2	4	2	3	2			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr20:44444280A>G	ENST00000356455.4	+	4	437	c.317A>G	c.(316-318)aAc>aGc	p.N106S	UBE2C_ENST00000372568.4_Missense_Mutation_p.N67S|UBE2C_ENST00000405520.1_Missense_Mutation_p.N67S|UBE2C_ENST00000243893.6_Intron|UBE2C_ENST00000496085.1_3'UTR|UBE2C_ENST00000335046.3_Intron|UBE2C_ENST00000352551.5_Missense_Mutation_p.N77S	NM_007019.2	NP_008950.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C	106					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cyclin catabolic process (GO:0008054)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				TATCACCCCAACGTGGACACC	0.522																																						ENST00000405520.1																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(199-201)aAc>aGc		ubiquitin-conjugating enzyme E2C							97	93	94					20																	44444280		2203	4300	6503	SO:0001583	missense	11065				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	g.chr20:44444280A>G	U73379	CCDS13370.1, CCDS13371.1, CCDS13372.1, CCDS13374.1, CCDS74733.1, CCDS74734.1	20q13.12	2007-02-05			ENSG00000175063	ENSG00000175063		"Ubiquitin-conjugating enzymes E2"	15937	protein-coding gene	gene with protein product		605574				9122200	Standard	NM_007019		Approved	UBCH10	uc002xpm.3	O00762	OTTHUMG00000033038	ENST00000356455.4:c.317A>G	20.37:g.44444280A>G	ENSP00000348838:p.Asn106Ser					UBE2C_ENST00000496085.1_3'UTR|UBE2C_ENST00000372568.4_Missense_Mutation_p.N67S|UBE2C_ENST00000352551.5_Missense_Mutation_p.N77S|UBE2C_ENST00000335046.3_Intron|UBE2C_ENST00000356455.4_Missense_Mutation_p.N106S|UBE2C_ENST00000243893.6_Intron	p.N67S	NM_181802.1	NP_861518.1	O00762	UBE2C_HUMAN			3	1037	+		Myeloproliferative disorder(115;0.0122)	106					A6NP33|E1P5N7|G3XAB7	Missense_Mutation	SNP	ENST00000356455.4	37	c.200A>G	CCDS13370.1	.	.	.	.	.	.	.	.	.	.	A	19.52	3.843932	0.71488	.	.	ENSG00000175063	ENST00000356455;ENST00000405520;ENST00000352551;ENST00000372568	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.12	5.12	0.69794	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.047154	0.85682	D	0.000000	T	0.77032	0.4071	H	0.99211	4.47	0.58432	D	0.999995	B;B	0.26400	0.089;0.148	B;B	0.39935	0.314;0.15	T	0.81304	-0.0993	10	0.72032	D	0.01	-13.7985	12.8761	0.57991	1.0:0.0:0.0:0.0	.	77;106	A6NP33;O00762	.;UBE2C_HUMAN	S	106;67;77;67	ENSP00000348838:N106S;ENSP00000385878:N67S;ENSP00000333975:N77S;ENSP00000361649:N67S	ENSP00000333975:N77S	N	+	2	0	UBE2C	43877687	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	8.750000	0.91623	1.932000	0.55993	0.454000	0.30748	AAC		0.522	UBE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080309.2	NM_007019		21	86	0	0	0	1	0	21	86					G	44444280	A	G	44444280	3	3	496	1	0	0	0	0	1	0	0	0	16843	43	2	4	482	4	UBE2C	20	44444280	Missense_Mutation	SNP	A	TCGA-ZG-A9N3-01A-11D-A41K-08	21427702	44444280	18581240	75	32925											
CCT8L2	150160	broad.mit.edu	37	chr22	17072764	17072764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatttgcccacagagcttcCcagatattgctaaccccggg	9	9	8	15	1	0	2	0	0	0	2	1	2	1	2	5	1	4	2	5	1	2	5			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr22:17072764C>T	ENST00000359963.3	-	1	936	c.677G>A	c.(676-678)gGg>gAg	p.G226E		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	226					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			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)				ACAGAGCTTCCCAGATATTGC	0.607																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(676-678)gGg>gAg		chaperonin containing TCP1, subunit 8 (theta)-like 2							74	71	72					22																	17072764		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072764C>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.677G>A	22.37:g.17072764C>T	ENSP00000353048:p.Gly226Glu						p.G226E	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	936	-	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)	226					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.677G>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	11.30	1.598920	0.28445	.	.	ENSG00000198445	ENST00000359963	T	0.77098	-1.07	1.78	0.625	0.17665	.	0.254272	0.20258	U	0.095931	T	0.66858	0.2832	L	0.44542	1.39	0.09310	N	1	B	0.25563	0.129	B	0.29440	0.102	T	0.59820	-0.7382	10	0.87932	D	0	-5.6643	5.9	0.18962	0.0:0.665:0.335:0.0	.	226	Q96SF2	TCPQM_HUMAN	E	226	ENSP00000353048:G226E	ENSP00000353048:G226E	G	-	2	0	CCT8L2	15452764	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.085000	0.11250	0.070000	0.16634	0.379000	0.24179	GGG		0.607	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			11	44	0	0	0	1	0	11	44					T	17072764	C	T	17072764	3	4	496	1	0	0	0	0	1	0	0	0	2961	623	22	3	1000	3	CCT8L2	22	17072764	Missense_Mutation	SNP	C	TCGA-ZG-A9N3-01A-11D-A41K-08		17072764	34231802	76	32926											
SHANK3	85358	broad.mit.edu	37	chr22	51143453	51143453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtggctctgattcgccaggGtggcaaccgcctcgtcatga	6	9	14	12	3	2	2	1	2	1	0	4	2	2	2	3	4	1	2	3	4	1	1			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr22:51143453G>A	ENST00000414786.2	+	16	2143	c.1916G>A	c.(1915-1917)gGt>gAt	p.G639D	SHANK3_ENST00000445220.2_Missense_Mutation_p.G654D|SHANK3_ENST00000262795.3_Missense_Mutation_p.G669D			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	653	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		ATTCGCCAGGGTGGCAACCGC	0.632																																						ENST00000414786.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8						c.(1915-1917)gGt>gAt		SH3 and multiple ankyrin repeat domains 3							105	123	117					22																	51143453		2182	4276	6458	SO:0001583	missense	85358							g.chr22:51143453G>A	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.1916G>A	22.37:g.51143453G>A	ENSP00000464552:p.Gly639Asp					SHANK3_ENST00000445220.2_Missense_Mutation_p.G654D|SHANK3_ENST00000262795.3_Missense_Mutation_p.G669D	p.G639D			F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	16	2143	+		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)	669					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.1916G>A		.	.	.	.	.	.	.	.	.	.	G	27.2	4.805742	0.90623	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.42131	0.98;0.98	4.43	4.43	0.53597	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.61198	0.2328	M	0.64676	1.99	0.40588	D	0.981468	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66444	-0.5922	9	0.87932	D	0	.	14.5752	0.68240	0.0:0.0:1.0:0.0	.	654;669	Q9BYB0;F2Z3L0	SHAN3_HUMAN;.	D	669;654	ENSP00000442518:G669D;ENSP00000446078:G654D	ENSP00000442518:G669D	G	+	2	0	SHANK3	49490319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.259000	0.95561	2.307000	0.77673	0.591000	0.81541	GGT		0.632	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		12	40	0	0	0	1	0	12	40					A	51143453	G	A	51143453	3	1	496	1	0	0	0	0	1	0	0	0	14266	1261	44	3	2072	3	SHANK3	22	51143453	Missense_Mutation	SNP	G	TCGA-ZG-A9N3-01A-11D-A41K-08	34070689	51143453	161113	77	32927											
NBPF1	55672	broad.mit.edu	37	chr1	16892268	16892268	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtcctgcaagacttcaGgctctactgcctccagcagc	8	9	10	14	0	2	2	1	1	1	1	4	2	4	2	3	1	5	3	3	1	2	2			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr1:16892268G>C	ENST00000430580.2	-	27	3811	c.2924C>G	c.(2923-2925)cCt>cGt	p.P975R		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	975	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									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)		CAAGACTTCAGGCTCTACTGC	0.488																																						ENST00000430580.2																			0											c.(2923-2925)cCt>cGt		neuroblastoma breakpoint family, member 1							22	18	19					1																	16892268		1490	2607	4097	SO:0001583	missense	55672					cytoplasm		g.chr1:16892268G>C	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2924C>G	1.37:g.16892268G>C	ENSP00000474456:p.Pro975Arg						p.P975R	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		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)	27	3811	-			975			NBPF 6.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2924C>G																																																																																					0.488	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		38	689	0	0	0	1	0	38	689					C	16892268	G	C	16892268	3	2	497	1	0	0	0	0	1	0	0	0	10192	1000	35	5	507	5	NBPF1	1	16892268	Missense_Mutation	SNP	G	TCGA-ZG-A9ND-01A-11D-A41K-08		16892268	232358353	1	32928											
PPP1R12B	4660	broad.mit.edu	37	chr1	202538279	202538279	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgttccgaaacaggagaGgcgagccttggagcgcaaaa	13	6	13	9	3	0	1	0	0	0	1	1	5	1	2	2	3	3	2	2	3	3	3			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr1:202538279G>C	ENST00000608999.1	+	23	2969	c.2816G>C	c.(2815-2817)aGg>aCg	p.R939T	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.R939T|PPP1R12B_ENST00000367270.4_Missense_Mutation_p.R165T|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000391959.3_Missense_Mutation_p.R165T	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	939					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			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)			AAACAGGAGAGGCGAGCCTTG	0.443																																						ENST00000406302.3																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(2815-2817)aGg>aCg		protein phosphatase 1, regulatory subunit 12B							114	110	111					1																	202538279		2203	4300	6503	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202538279G>C	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2816G>C	1.37:g.202538279G>C	ENSP00000476755:p.Arg939Thr					PPP1R12B_ENST00000391959.3_Missense_Mutation_p.R165T|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.R939T|PPP1R12B_ENST00000367270.4_Missense_Mutation_p.R165T	p.R939T	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		23	2969	+			939					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.2816G>C	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038806	0.55003	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000391959;ENST00000367270	T;T;T;T	0.56444	0.51;0.53;2.52;0.46	5.42	4.5	0.54988	.	0.087730	0.48767	D	0.000166	T	0.63224	0.2493	M	0.85630	2.765	0.41635	D	0.989047	P;P;P	0.48764	0.9;0.799;0.915	P;B;P	0.50708	0.571;0.272;0.648	T	0.68236	-0.5462	10	0.87932	D	0	.	7.2718	0.26260	0.2342:0.0:0.7658:0.0	.	165;939;939	O60237-3;O60237;F8W8M3	.;MYPT2_HUMAN;.	T	939;939;165;165	ENSP00000384496:R939T;ENSP00000337897:R939T;ENSP00000375821:R165T;ENSP00000356239:R165T	ENSP00000337897:R939T	R	+	2	0	PPP1R12B	200804902	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.691000	0.37721	1.278000	0.44430	0.655000	0.94253	AGG		0.443	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		28	48	0	0	0	1	0	28	48					C	202538279	G	C	202538279	3	2	497	1	0	0	0	0	1	0	0	0	12355	1000	35	5	2996	5	PPP1R12B	1	202538279	Missense_Mutation	SNP	G	TCGA-ZG-A9ND-01A-11D-A41K-08	185646011	202538279	46712342	2	32929											
CR2	1380	broad.mit.edu	37	chr1	207644418	207644418	+	Frame_Shift_Del	DEL	T	T	-																															gttagaccagatgtcaactcTtcttgtggtgaagggtgagt																										TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr1:207644418delT	ENST00000367058.3	+	8	1668	c.1479delT	c.(1477-1479)tctfs	p.S494fs	CR2_ENST00000367057.3_Frame_Shift_Del_p.S494fs|CR2_ENST00000458541.2_Frame_Shift_Del_p.S494fs|CR2_ENST00000367059.3_Frame_Shift_Del_p.S494fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	494	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			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						ATGTCAACTCTTCTTGTGGTG	0.468																																						ENST00000367057.3																			0				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						c.(1477-1479)tcfs		complement component (3d/Epstein Barr virus) receptor 2							147	137	140					1																	207644418		2203	4300	6503	SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207644418delT	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1479delT	1.37:g.207644418delT	ENSP00000356025:p.Ser494fs					CR2_ENST00000367059.3_Frame_Shift_Del_p.S494fs|CR2_ENST00000367058.3_Frame_Shift_Del_p.S494fs|CR2_ENST00000458541.2_Frame_Shift_Del_p.S494fs	p.S494fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			8	1668	+			494			Sushi 8.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Del	DEL	ENST00000367058.3	37	c.1479delT	CCDS1478.1																																																																																				0.468	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		51	71						51	71	---	---	---	---	-	207644418	T	-	207644418	7	5	497	1	0	1	0	1	0	0	0	0	3842	1596	56	0	1509	0	CR2	1	207644418	Frame_Shift_Del	DEL	T	TCGA-ZG-A9ND-01A-11D-A41K-08	5106139	207644418	41606203	3	32930											
MSH6	2956	broad.mit.edu	37	chr2	48027960	48027960	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcttgctgacataagagaAaatgaacagagcctcctgga	14	8	10	9	0	1	4	0	2	1	2	2	6	2	5	2	1	3	2	2	1	4	2			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr2:48027960A>C	ENST00000234420.5	+	4	2990	c.2838A>C	c.(2836-2838)gaA>gaC	p.E946D	MSH6_ENST00000540021.1_Missense_Mutation_p.E816D|MSH6_ENST00000538136.1_Missense_Mutation_p.E644D|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	946					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	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)			ACATAAGAGAAAATGAACAGA	0.458			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"Mis, N, F, S"	mutS homolog 6 (E. coli)			E		"colorectal, endometrial, ovarian"	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(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						c.(2836-2838)gaA>gaC	Mismatch excision repair (MMR)	mutS homolog 6							45	45	45					2																	48027960		2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	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	g.chr2:48027960A>C	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2838A>C	2.37:g.48027960A>C	ENSP00000234420:p.Glu946Asp					MSH6_ENST00000538136.1_Missense_Mutation_p.E644D|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.E816D	p.E946D	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	2990	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	946					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.2838A>C	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	A	9.717	1.158590	0.21454	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.90900	-2.75;-2.75;-2.75	5.61	2.06	0.26882	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.538247	0.21758	N	0.069578	T	0.80507	0.4636	L	0.28400	0.85	0.80722	D	1	B;B;B	0.14012	0.009;0.004;0.001	B;B;B	0.17979	0.02;0.02;0.006	T	0.69217	-0.5203	10	0.44086	T	0.13	-20.2924	0.5817	0.00713	0.3609:0.2743:0.1904:0.1744	.	816;946;946	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	D	946;944;816;644	ENSP00000234420:E946D;ENSP00000446475:E816D;ENSP00000438580:E644D	ENSP00000234420:E946D	E	+	3	2	MSH6	47881464	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.720000	0.25896	0.417000	0.25871	0.460000	0.39030	GAA		0.458	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		12	29	0	0	0	1	0	12	29					C	48027960	A	C	48027960	3	2	497	1	0	0	0	0	1	0	0	0	9874	11	1	5	2852	5	MSH6	2	48027960	Missense_Mutation	SNP	A	TCGA-ZG-A9ND-01A-11D-A41K-08		48027960	195171413	4	32931											
CCDC85A	114800	broad.mit.edu	37	chr2	56599555	56599555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggtccagagcccggcGggtcttgcagtggtggcaag	5	7	19	10	2	1	1	0	0	1	1	2	1	2	1	2	6	2	2	2	6	1	1			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr2:56599555G>A	ENST00000407595.2	+	4	1896	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	465										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)			AGAGCCCGGCGGGTCTTGCAG	0.522																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(1393-1395)cGg>cAg		coiled-coil domain containing 85A							31	36	35					2																	56599555		1954	4127	6081	SO:0001583	missense	114800							g.chr2:56599555G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1394G>A	2.37:g.56599555G>A	ENSP00000384040:p.Arg465Gln					RP11-482H16.1_ENST00000607540.1_RNA	p.R465Q	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	1896	+			465						Missense_Mutation	SNP	ENST00000407595.2	37	c.1394G>A	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447234	0.43429	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.84	3.05	0.35203	.	0.263075	0.26262	N	0.025382	T	0.21227	0.0511	N	0.08118	0	0.28806	N	0.898516	B	0.13145	0.007	B	0.04013	0.001	T	0.13255	-1.0516	9	0.66056	D	0.02	-28.5169	7.7771	0.29043	0.2412:0.0:0.7588:0.0	.	465	Q96PX6	CC85A_HUMAN	Q	465;54	.	ENSP00000384040:R465Q	R	+	2	0	CCDC85A	56453059	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.034000	0.41145	1.482000	0.48325	0.591000	0.81541	CGG		0.522	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			3	6	0	0	0	1	0	3	6					A	56599555	G	A	56599555	3	1	497	1	0	0	0	0	1	0	0	0	2859	1116	39	2	1408	2	CCDC85A	2	56599555	Missense_Mutation	SNP	G	TCGA-ZG-A9ND-01A-11D-A41K-08	8571595	56599555	186599818	5	32932											
PIKFYVE	200576	broad.mit.edu	37	chr2	209204848	209204848	+	Frame_Shift_Del	DEL	T	T	-																															atagctataatcctattccaTttcctttgtaagtattatta																										TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr2:209204848delT	ENST00000264380.4	+	31	5082	c.4924delT	c.(4924-4926)tttfs	p.F1642fs		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1642					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCCTATTCCATTTCCTTTGTA	0.373																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(4924-4926)ttfs		phosphoinositide kinase, FYVE finger containing							91	91	91					2																	209204848		2203	4300	6503	SO:0001589	frameshift_variant	200576				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	g.chr2:209204848delT	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.4924delT	2.37:g.209204848delT	ENSP00000264380:p.Phe1642fs						p.F1642fs	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			31	5082	+			1642					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Frame_Shift_Del	DEL	ENST00000264380.4	37	c.4924delT	CCDS2382.1																																																																																				0.373	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		46	78						46	78	---	---	---	---	-	209204848	T	-	209204848	7	5	497	1	0	1	0	1	0	0	0	0	11924	1493	52	0	5053	0	PIKFYVE	2	209204848	Frame_Shift_Del	DEL	T	TCGA-ZG-A9ND-01A-11D-A41K-08	152605293	209204848	33994525	6	32933											
MARCH4	57574	broad.mit.edu	37	chr2	217124081	217124081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctctcggctgctgcctgggGgacttcgctgttcatgaggt	3	12	15	11	2	2	1	1	1	1	0	4	2	2	2	1	4	2	5	1	4	0	2			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr2:217124081G>A	ENST00000273067.4	-	4	2953	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	396						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		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)		GCTGCCTGGGGGACTTCGCTG	0.617																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(1186-1188)cCc>cTc		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase							76	76	76					2																	217124081		2203	4300	6503	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217124081G>A	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.1187C>T	2.37:g.217124081G>A	ENSP00000273067:p.Pro396Leu						p.P396L	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	4	2953	-		Renal(323;0.0854)	396					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.1187C>T	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561600	0.27915	.	.	ENSG00000144583	ENST00000273067	T	0.13657	2.57	5.47	5.47	0.80525	.	0.872189	0.10374	N	0.682412	T	0.08626	0.0214	N	0.08118	0	0.19300	N	0.999976	B	0.17038	0.02	B	0.15484	0.013	T	0.23048	-1.0199	10	0.31617	T	0.26	-7.5873	12.0496	0.53500	0.0:0.0:0.727:0.273	.	396	Q9P2E8	MARH4_HUMAN	L	396	ENSP00000273067:P396L	ENSP00000273067:P396L	P	-	2	0	MARCH4	216832326	1.000000	0.71417	0.046000	0.18839	0.656000	0.38851	5.566000	0.67372	2.567000	0.86603	0.561000	0.74099	CCC		0.617	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		24	63	0	0	0	1	0	24	63					A	217124081	G	A	217124081	3	1	497	1	0	0	0	0	1	0	0	0	9303	1232	43	3	49	3	MARCH4	2	217124081	Missense_Mutation	SNP	G	TCGA-ZG-A9ND-01A-11D-A41K-08	7919233	217124081	26075292	7	32934											
CWH43	80157	broad.mit.edu	37	chr4	49034677	49034677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagccatcacattgaccGttaacatttcgggcaagctg	11	9	8	13	2	1	1	1	1	0	0	2	1	1	1	3	1	3	3	3	1	2	3	rs181675127		TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr4:49034677G>A	ENST00000226432.4	+	12	1786	c.1603G>A	c.(1603-1605)Gtt>Att	p.V535I	CWH43_ENST00000513409.1_Missense_Mutation_p.V508I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	535					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CACATTGACCGTTAACATTTC	0.463																																						ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1603-1605)Gtt>Att		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							205	179	188					4																	49034677		2203	4300	6503	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49034677G>A		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1603G>A	4.37:g.49034677G>A	ENSP00000226432:p.Val535Ile					CWH43_ENST00000513409.1_Missense_Mutation_p.V508I	p.V535I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN			12	1786	+			535					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.1603G>A	CCDS3486.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.731	-0.779957	0.02929	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.29655	1.56;1.56	5.24	4.32	0.51571	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.56097	D	0.000038	T	0.11750	0.0286	N	0.04705	-0.18	0.09310	N	1	P	0.37594	0.601	B	0.24394	0.053	T	0.17592	-1.0364	9	.	.	.	.	12.1374	0.53979	0.0923:0.0:0.9077:0.0	.	535	Q9H720	PG2IP_HUMAN	I	535;508	ENSP00000226432:V535I;ENSP00000422802:V508I	.	V	+	1	0	CWH43	48729434	0.981000	0.34729	0.129000	0.21949	0.002000	0.02628	3.188000	0.50958	2.737000	0.93849	0.561000	0.74099	GTT		0.463	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		4	188	0	0	0	1	0	4	188					A	49034677	G	A	49034677	3	1	497	1	0	0	0	0	1	0	0	0	4073	1145	40	1	1649	1	CWH43	4	49034677	Missense_Mutation	SNP	G	TCGA-ZG-A9ND-01A-11D-A41K-08		49034677	142119599	8	32935											
KIAA0947	23379	broad.mit.edu	37	chr5	5462222	5462222	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtgaaaagcatttcAccagaagtttctgcctctag	10	12	9	10	0	3	2	1	1	2	1	3	2	3	2	2	0	3	4	2	0	4	3			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr5:5462222A>G	ENST00000296564.7	+	13	2997	c.2775A>G	c.(2773-2775)tcA>tcG	p.S925S		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		925					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			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						AAAGCATTTCACCAGAAGTTT	0.398																																						ENST00000296564.7																			0				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						c.(2773-2775)tcA>tcG		KIAA0947							57	55	56					5																	5462222		1830	4099	5929	SO:0001819	synonymous_variant	23379							g.chr5:5462222A>G																												ENST00000296564.7:c.2775A>G	5.37:g.5462222A>G							p.S925S	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	2997	+			925					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.2775A>G	CCDS47187.1																																																																																				0.398	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			11	28	0	0	0	1	0	11	28					G	5462222	A	G	5462222	2	3	497	1	0	0	0	0	0	0	0	1	8202	146	6	4		4	KIAA0947	5	5462222	Silent	SNP	A	TCGA-ZG-A9ND-01A-11D-A41K-08		5462222	175453038	9	32936											
BRIX1	55299	broad.mit.edu	37	chr5	34925038	34925038	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagggaagttttggaggAccaactttatatgaaaatcc	13	12	9	7	0	0	1	0	1	0	0	2	4	2	4	3	3	1	1	3	3	6	6			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr5:34925038A>G	ENST00000336767.5	+	9	1113	c.750A>G	c.(748-750)ggA>ggG	p.G250G	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	250					ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						GTTTTGGAGGACCAACTTTAT	0.378																																						ENST00000336767.5																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(748-750)ggA>ggG		BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)							67	67	67					5																	34925038		2203	4300	6503	SO:0001819	synonymous_variant	55299				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr5:34925038A>G		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"brix domain containing 2"	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.750A>G	5.37:g.34925038A>G						BRIX1_ENST00000506023.1_3'UTR	p.G250G	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN			9	1113	+			250					A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Silent	SNP	ENST00000336767.5	37	c.750A>G	CCDS34143.1																																																																																				0.378	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321		27	38	0	0	0	1	0	27	38					G	34925038	A	G	34925038	2	3	497	1	0	0	0	0	0	0	0	1	1515	262	10	4		4	BRIX1	5	34925038	Silent	SNP	A	TCGA-ZG-A9ND-01A-11D-A41K-08	29462816	34925038	145990222	10	32937											
ITGA2	3673	broad.mit.edu	37	chr5	52361704	52361704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatggagcctttaggagcCatctccagtactttgggagg	8	10	13	10	1	1	0	0	0	1	0	2	4	1	3	4	4	3	1	4	4	2	4			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr5:52361704C>T	ENST00000296585.5	+	15	1983	c.1840C>T	c.(1840-1842)Cat>Tat	p.H614Y		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	614					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			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)				CTTTAGGAGCCATCTCCAGTA	0.453																																						ENST00000296585.5																			0				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						c.(1840-1842)Cat>Tat		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							105	102	103					5																	52361704		2203	4300	6503	SO:0001583	missense	3673				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	g.chr5:52361704C>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1840C>T	5.37:g.52361704C>T	ENSP00000296585:p.His614Tyr						p.H614Y	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			15	1983	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	614					Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.1840C>T	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037443	0.35989	.	.	ENSG00000164171	ENST00000296585	T	0.55413	0.52	5.55	5.55	0.83447	.	0.710658	0.14542	N	0.313223	T	0.47414	0.1444	L	0.39898	1.24	0.09310	N	1	B;B	0.26512	0.084;0.151	B;B	0.26614	0.071;0.04	T	0.46762	-0.9168	10	0.66056	D	0.02	.	14.2068	0.65739	0.1486:0.8514:0.0:0.0	.	614;614	E7ESP4;P17301	.;ITA2_HUMAN	Y	614	ENSP00000296585:H614Y	ENSP00000296585:H614Y	H	+	1	0	ITGA2	52397461	0.001000	0.12720	0.009000	0.14445	0.928000	0.56348	1.625000	0.37029	2.602000	0.87976	0.650000	0.86243	CAT		0.453	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		43	15	0	0	0	1	0	43	15					T	52361704	C	T	52361704	3	4	497	1	0	0	0	0	1	0	0	0	7875	594	21	3	1898	3	ITGA2	5	52361704	Missense_Mutation	SNP	C	TCGA-ZG-A9ND-01A-11D-A41K-08	17436666	52361704	128553556	11	32938											
UBLCP1	134510	broad.mit.edu	37	chr5	158697638	158697638	+	Frame_Shift_Del	DEL	T	T	-																															cttttggtgctagatgttgaTtatacattatttggtaagtc																										TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr5:158697638delT	ENST00000296786.6	+	5	761	c.435delT	c.(433-435)gatfs	p.D145fs		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	145	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.|Phosphatase.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGATGTTGATTATACATTAT	0.323																																						ENST00000296786.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9						c.(433-435)gafs		ubiquitin-like domain containing CTD phosphatase 1							66	65	66					5																	158697638		2203	4299	6502	SO:0001589	frameshift_variant	134510					nucleus	phosphoprotein phosphatase activity	g.chr5:158697638delT	AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	28110	protein-coding gene	gene with protein product	"CTD phosphatase-like with ubiquitin domain 1"	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.435delT	5.37:g.158697638delT	ENSP00000296786:p.Asp145fs						p.D145fs	NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	761	+	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	145			FCP1 homology.		D3DQJ7|Q96DK5	Frame_Shift_Del	DEL	ENST00000296786.6	37	c.435delT	CCDS4345.1																																																																																				0.323	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		16	27						16	27	---	---	---	---	-	158697638	T	-	158697638	7	5	497	1	0	1	0	1	0	0	0	0	16888	1490	52	0	449	0	UBLCP1	5	158697638	Frame_Shift_Del	DEL	T	TCGA-ZG-A9ND-01A-11D-A41K-08	106335934	158697638	22217622	12	32939											
IMPAD1	54928	broad.mit.edu	37	chr8	57878868	57878868	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggtcttctcattgtaggaAgagcgggctttcacatttga	8	13	13	7	1	3	2	2	1	2	1	4	3	3	3	0	4	1	2	0	4	2	5			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr8:57878868A>G	ENST00000262644.4	-	4	948	c.690T>C	c.(688-690)tcT>tcC	p.S230S		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	230					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				CATTGTAGGAAGAGCGGGCTT	0.418																																						ENST00000262644.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(688-690)tcT>tcC		inositol monophosphatase domain containing 1							147	115	126					8																	57878868		2203	4300	6503	SO:0001819	synonymous_variant	54928					Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	g.chr8:57878868A>G		CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.690T>C	8.37:g.57878868A>G							p.S230S	NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN			4	948	-		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)	230					Q6NVY7	Silent	SNP	ENST00000262644.4	37	c.690T>C	CCDS6169.1																																																																																				0.418	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813		25	84	0	0	0	1	0	25	84					G	57878868	A	G	57878868	2	3	497	1	0	0	0	0	0	0	0	1	7725	59	3	4		4	IMPAD1	8	57878868	Silent	SNP	A	TCGA-ZG-A9ND-01A-11D-A41K-08		57878868	88485154	13	32940											
FER1L6	654463	broad.mit.edu	37	chr8	125047624	125047628	+	Frame_Shift_Del	DEL	TAGGC	TAGGC	-																															cattttggacaacttgccagTaggctatgaagcagaaatgt																										TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr8:125047624_125047628delTAGGC	ENST00000522917.1	+	19	2599_2603	c.2393_2397delTAGGC	c.(2392-2397)gtaggcfs	p.VG798fs	FER1L6_ENST00000399018.1_Frame_Shift_Del_p.VG798fs|FER1L6-AS1_ENST00000518567.1_RNA|RP11-959I15.4_ENST00000522005.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	798						integral component of membrane (GO:0016021)				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)			AACTTGCCAGTAGGCTATGAAGCAG	0.556																																						ENST00000522917.1																			0				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						c.(2392-2397)gfs		fer-1-like 6 (C. elegans)																																				SO:0001589	frameshift_variant	654463					integral to membrane		g.chr8:125047624_125047628delTAGGC	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2393_2397delTAGGC	8.37:g.125047624_125047628delTAGGC	ENSP00000428280:p.Val798fs					FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Frame_Shift_Del_p.VG798fs	p.VG798fs	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		19	2599_2603	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		798						Frame_Shift_Del	DEL	ENST00000522917.1	37	c.2393_2397delTAGGC	CCDS43767.1																																																																																				0.556	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		12	68						12	68	---	---	---	---	-	125047628	TAGGC	-	125047624	7	5	497	1	0	1	0	1	0	0	0	0	5815	1638	57	0	2463	0	FER1L6	8	125047624	Frame_Shift_Del	DEL	TAGGC	TCGA-ZG-A9ND-01A-11D-A41K-08	67168756	125047624	21316398	14	32941											
C9orf91	203197	broad.mit.edu	37	chr9	117405508	117405508	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatggggacacgacacaCgaactctccgagaattccat	13	6	10	12	3	1	1	0	0	1	1	3	5	2	2	2	3	1	1	2	3	3	1	rs367949099		TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr9:117405508C>G	ENST00000288502.4	+	9	1381	c.944C>G	c.(943-945)aCg>aGg	p.T315R	C9orf91_ENST00000374049.4_Missense_Mutation_p.T316R			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	315						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						ACACGACACACGAACTCTCCG	0.587																																						ENST00000374049.4																			0				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						c.(946-948)aCg>aGg		chromosome 9 open reading frame 91							110	95	100					9																	117405508		2203	4300	6503	SO:0001583	missense	203197					integral to membrane		g.chr9:117405508C>G	BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.944C>G	9.37:g.117405508C>G	ENSP00000288502:p.Thr315Arg					C9orf91_ENST00000288502.4_Missense_Mutation_p.T315R	p.T316R	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN			9	1384	+			315					A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Missense_Mutation	SNP	ENST00000288502.4	37	c.947C>G	CCDS6808.1	.	.	.	.	.	.	.	.	.	.	C	5.555	0.287208	0.10513	.	.	ENSG00000157693	ENST00000374049;ENST00000288502	.	.	.	5.8	1.14	0.20703	.	0.791178	0.11722	N	0.535800	T	0.20251	0.0487	N	0.08118	0	0.09310	N	1	B;P	0.36789	0.3;0.57	B;B	0.40329	0.162;0.326	T	0.20174	-1.0283	9	0.32370	T	0.25	-19.4541	7.7089	0.28667	0.0:0.581:0.0:0.419	.	294;315	Q5VZI3-2;Q5VZI3	.;CI091_HUMAN	R	316;315	.	ENSP00000288502:T315R	T	+	2	0	C9orf91	116445329	0.009000	0.17119	0.096000	0.21009	0.206000	0.24218	0.034000	0.13776	-0.072000	0.12864	0.650000	0.86243	ACG		0.587	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045		23	72	0	0	0	1	0	23	72					G	117405508	C	G	117405508	3	3	497	1	0	0	0	0	1	0	0	0	2505	536	19	5	974	5	C9orf91	9	117405508	Missense_Mutation	SNP	C	TCGA-ZG-A9ND-01A-11D-A41K-08		117405508	23807923	15	32942											
TTF1	7270	broad.mit.edu	37	chr9	135254513	135254514	+	Frame_Shift_Ins	INS	-	-	T																															tagaaaatttagtttgaacgINStaagatggaggaacatcact																								rs200153166		TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr9:135254513_135254514insT	ENST00000334270.2	-	10	2435_2436	c.2396_2397insA	c.(2395-2397)tacfs	p.Y799fs	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	799					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			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)		TAGTTTGAACGTAAGATGGAGG	0.297																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2395-2397)tgtfs		transcription termination factor, RNA polymerase I																																				SO:0001589	frameshift_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135254513_135254514insT	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2397dupA	9.37:g.135254514_135254514dupT	ENSP00000333920:p.Tyr799fs					TTF1_ENST00000461970.1_5'UTR	p.C799fs	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	10	2435_2436	-		Myeloproliferative disorder(178;0.204)	799					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Frame_Shift_Ins	INS	ENST00000334270.2	37	c.2396_2397insA	CCDS6948.1																																																																																				0.297	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		28	43						28	43	---	---	---	---	T	135254514	-	T	135254513	7	5	497	1	0	1	1	0	0	0	0	0	16715	1140	40	0	328	0	TTF1	9	135254513	Frame_Shift_Ins	INS	-	TCGA-ZG-A9ND-01A-11D-A41K-08	17849005	135254513	5958918	16	32943											
VCL	7414	broad.mit.edu	37	chr10	75843162	75843162	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagacagatcttagatGaagctggaaaagttggtgaa	15	9	11	6	0	2	5	1	2	1	3	2	6	2	6	1	2	1	2	1	2	5	2			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr10:75843162G>T	ENST00000211998.4	+	8	1007	c.913G>T	c.(913-915)Gaa>Taa	p.E305*	VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Nonsense_Mutation_p.E305*|VCL_ENST00000478896.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	305	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		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)					GATCTTAGATGAAGCTGGAAA	0.428																																						ENST00000211998.4																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(913-915)Gaa>Taa		vinculin							116	112	114					10																	75843162		2203	4300	6503	SO:0001587	stop_gained	7414				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	g.chr10:75843162G>T	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.913G>T	10.37:g.75843162G>T	ENSP00000211998:p.Glu305*					VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Nonsense_Mutation_p.E305*|VCL_ENST00000417648.2_Intron	p.E305*	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN			8	1007	+	Prostate(51;0.0112)		305			3 X 112 AA tandem repeats.|N-terminal globular head.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Nonsense_Mutation	SNP	ENST00000211998.4	37	c.913G>T	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	G	39	7.524699	0.98339	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.2345	0.93853	0.0:0.0:1.0:0.0	.	.	.	.	X	305;305;212;232	.	ENSP00000211998:E305X	E	+	1	0	VCL	75513168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.545000	0.85829	0.585000	0.79938	GAA		0.428	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		21	40	1	0	9.39395e-14	1	1.00649e-13	21	40					T	75843162	G	T	75843162	4	4	497	1	0	0	0	0	0	1	0	0	17136	1291	45	5	943	5	VCL	10	75843162	Nonsense_Mutation	SNP	G	TCGA-ZG-A9ND-01A-11D-A41K-08		75843162	59691585	17	32944											
USP47	55031	broad.mit.edu	37	chr11	11957962	11957962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaagaagatacaccaatggGgcttctactaggtggcgtca	13	8	12	8	1	2	3	1	0	1	3	2	3	2	3	1	4	2	1	1	4	6	4			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr11:11957962G>A	ENST00000399455.2	+	18	2162	c.2042G>A	c.(2041-2043)gGg>gAg	p.G681E	USP47_ENST00000527733.1_Missense_Mutation_p.G661E|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Missense_Mutation_p.G593E	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	681					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		ACACCAATGGGGCTTCTACTA	0.423																																						ENST00000339865.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(1777-1779)gGg>gAg		ubiquitin specific peptidase 47							117	105	109					11																	11957962		1852	4087	5939	SO:0001583	missense	55031				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	g.chr11:11957962G>A	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2042G>A	11.37:g.11957962G>A	ENSP00000382382:p.Gly681Glu					USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Missense_Mutation_p.G681E|USP47_ENST00000527733.1_Missense_Mutation_p.G661E	p.G593E	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	16	2541	+			681					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.1778G>A		.	.	.	.	.	.	.	.	.	.	G	18.99	3.740349	0.69304	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	T;T;T	0.05025	3.51;3.51;3.51	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.11410	0.0278	L	0.52364	1.645	0.80722	D	1	B;B	0.27316	0.11;0.175	B;B	0.34722	0.092;0.188	T	0.10965	-1.0607	10	0.34782	T	0.22	.	18.9429	0.92611	0.0:0.0:1.0:0.0	.	661;593	E9PM46;Q96K76-2	.;.	E	593;661;681	ENSP00000339957:G593E;ENSP00000433146:G661E;ENSP00000382382:G681E	ENSP00000339957:G593E	G	+	2	0	USP47	11914538	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	9.102000	0.94226	2.554000	0.86153	0.655000	0.94253	GGG		0.423	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		32	70	0	0	0	1	0	32	70					A	11957962	G	A	11957962	3	1	497	1	0	0	0	0	1	0	0	0	17075	1232	43	3	1840	3	USP47	11	11957962	Missense_Mutation	SNP	G	TCGA-ZG-A9ND-01A-11D-A41K-08		11957962	123048554	18	32945											
SFRS2IP	9169	broad.mit.edu	37	chr12	46316920	46316920	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgttattacttacatgAgaagaactaggaataccctg	14	12	7	8	0	1	2	1	1	0	2	1	4	1	3	1	1	4	1	1	1	8	5			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr12:46316920A>C	ENST00000369367.3	-	13	4157	c.3924T>G	c.(3922-3924)tcT>tcG	p.S1308S	SCAF11_ENST00000419565.2_Silent_p.S1308S|SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000465950.1_Silent_p.S993S|SCAF11_ENST00000549162.1_Silent_p.S1116S	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1308					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TACTTACATGAGAAGAACTAG	0.378																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2977-2979)tcT>tcG		SR-related CTD-associated factor 11							89	86	87					12																	46316920		2203	4300	6503	SO:0001819	synonymous_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46316920A>C	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3924T>G	12.37:g.46316920A>C						SCAF11_ENST00000419565.2_Silent_p.S1308S|SCAF11_ENST00000369367.3_Silent_p.S1308S|SCAF11_ENST00000549162.1_Silent_p.S1116S|SCAF11_ENST00000550629.1_5'UTR	p.S993S			Q99590	SCAFB_HUMAN			3	4188	-			1308					A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	c.2979T>G	CCDS8748.2																																																																																				0.378	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		31	55	0	0	0	1	0	31	55					C	46316920	A	C	46316920	2	2	497	1	0	0	0	0	0	0	0	1	14177	291	11	5		5	SFRS2IP	12	46316920	Silent	SNP	A	TCGA-ZG-A9ND-01A-11D-A41K-08		46316920	87534975	19	32946											
TMBIM6	7009	broad.mit.edu	37	chr12	50149485	50149485	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcaacacctcatagccAtgaaactgaacagaaaagac	18	5	8	10	0	1	4	1	2	0	2	1	5	1	4	2	1	4	1	2	1	6	1			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr12:50149485A>G	ENST00000267115.5	+	4	318	c.233A>G	c.(232-234)cAt>cGt	p.H78R	TMBIM6_ENST00000423828.1_Missense_Mutation_p.H136R|TMBIM6_ENST00000547798.1_Missense_Mutation_p.H41R|TMBIM6_ENST00000549385.1_Missense_Mutation_p.H78R|TMBIM6_ENST00000395006.4_Missense_Mutation_p.H78R|TMBIM6_ENST00000552699.1_Missense_Mutation_p.H136R	NM_003217.2	NP_003208.2	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	78					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						CCTCATAGCCATGAAACTGAA	0.428																																						ENST00000423828.1																			0				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(406-408)cAt>cGt		transmembrane BAX inhibitor motif containing 6							201	200	200					12																	50149485		2203	4300	6503	SO:0001583	missense	7009				apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus		g.chr12:50149485A>G	X75861	CCDS31797.1, CCDS44875.1	12q13.12	2013-10-08	2008-09-17	2008-09-17	ENSG00000139644	ENSG00000139644			11723	protein-coding gene	gene with protein product	"BAX inhibitor 1"	600748	"testis enhanced gene transcript"	TEGT		8530040, 9660918	Standard	NM_001098576		Approved	BI-1, BAXI1	uc001ruy.2	P55061	OTTHUMG00000169652	ENST00000267115.5:c.233A>G	12.37:g.50149485A>G	ENSP00000267115:p.His78Arg					TMBIM6_ENST00000547798.1_Missense_Mutation_p.H41R|TMBIM6_ENST00000552699.1_Missense_Mutation_p.H136R|TMBIM6_ENST00000267115.5_Missense_Mutation_p.H78R|TMBIM6_ENST00000395006.4_Missense_Mutation_p.H78R|TMBIM6_ENST00000549385.1_Missense_Mutation_p.H78R	p.H136R	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN			4	735	+			78					B2R5M4|F8W034|O14938|Q643A7|Q96J50	Missense_Mutation	SNP	ENST00000267115.5	37	c.407A>G	CCDS31797.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.280991	0.23392	.	.	ENSG00000139644	ENST00000546796;ENST00000549966;ENST00000547832;ENST00000547187;ENST00000546914;ENST00000552699;ENST00000267115;ENST00000541612;ENST00000549445;ENST00000549385;ENST00000548201;ENST00000423828;ENST00000542631;ENST00000550445;ENST00000549130;ENST00000552370;ENST00000395006;ENST00000547798	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.65	-2.36	0.06663	.	0.440273	0.26800	N	0.022425	T	0.20618	0.0496	N	0.11789	0.175	0.25414	N	0.988334	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.16276	-1.0408	10	0.21540	T	0.41	.	12.4808	0.55842	0.5203:0.0:0.4797:0.0	.	78;136;78	B7Z984;F8W034;P55061	.;.;BI1_HUMAN	R	78;78;78;78;78;136;78;78;78;78;78;136;78;78;78;78;78;41	ENSP00000450159:H78R;ENSP00000446668:H78R;ENSP00000448269:H78R;ENSP00000447400:H78R;ENSP00000448612:H78R;ENSP00000446734:H136R;ENSP00000267115:H78R;ENSP00000449904:H78R;ENSP00000448036:H78R;ENSP00000450265:H78R;ENSP00000389277:H136R;ENSP00000449907:H78R;ENSP00000450158:H78R;ENSP00000378454:H78R;ENSP00000447030:H41R	ENSP00000267115:H78R	H	+	2	0	TMBIM6	48435752	0.557000	0.26546	0.979000	0.43373	0.975000	0.68041	0.003000	0.13083	-0.560000	0.06102	0.533000	0.62120	CAT		0.428	TMBIM6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405289.1	NM_003217		94	121	0	0	0	1	0	94	121					G	50149485	A	G	50149485	3	3	497	1	0	0	0	0	1	0	0	0	15980	217	8	4	421	4	TMBIM6	12	50149485	Missense_Mutation	SNP	A	TCGA-ZG-A9ND-01A-11D-A41K-08	3832565	50149485	83702410	20	32947											
NAB2	4665	broad.mit.edu	37	chr12	57485584	57485584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgtggagaggatcttcCggagcttcccaaggggggat	10	8	16	7	1	1	1	0	0	1	1	3	5	3	4	2	6	1	1	2	6	2	2	rs200672078		TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr12:57485584C>T	ENST00000300131.3	+	2	1138	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	NAB2_ENST00000357680.4_Missense_Mutation_p.R254W|NAB2_ENST00000342556.6_Missense_Mutation_p.R254W|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	254					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			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						GAGGATCTTCCGGAGCTTCCC	0.592													C|||	1	0.000199681	0	0.0014	5008	,	,		15477	0		0	False		,,,				2504	0					ENST00000300131.3																			0				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						c.(760-762)Cgg>Tgg		NGFI-A binding protein 2 (EGR1 binding protein 2)							106	115	112					12																	57485584		2203	4300	6503	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485584C>T	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.760C>T	12.37:g.57485584C>T	ENSP00000300131:p.Arg254Trp					NAB2_ENST00000342556.6_Missense_Mutation_p.R254W|NAB2_ENST00000357680.4_Missense_Mutation_p.R254W|NAB2_ENST00000554718.1_3'UTR	p.R254W	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			2	1138	+			254					B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.760C>T	CCDS8930.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.41	3.382440	0.61845	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.08	3.13	0.36017	NAB co-repressor, domain (1);	0.071142	0.52532	D	0.000063	T	0.64193	0.2576	L	0.42245	1.32	0.45046	D	0.998066	D	0.89917	1.0	D	0.70935	0.971	T	0.65990	-0.6034	9	0.72032	D	0.01	-14.9171	9.2293	0.37428	0.3604:0.6396:0.0:0.0	.	254	Q15742	NAB2_HUMAN	W	254	.	ENSP00000300131:R254W	R	+	1	2	NAB2	55771851	0.990000	0.36364	1.000000	0.80357	0.995000	0.86356	2.785000	0.47782	2.081000	0.62600	0.462000	0.41574	CGG		0.592	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		51	65	0	0	0	1	0	51	65					T	57485584	C	T	57485584	3	4	497	1	0	0	0	0	1	0	0	0	10132	643	23	2	766	2	NAB2	12	57485584	Missense_Mutation	SNP	C	TCGA-ZG-A9ND-01A-11D-A41K-08	7336099	57485584	76366311	21	32948											
KLHL28	54813	broad.mit.edu	37	chr14	45403573	45403573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagagaagtccaagtatttGtatcaggattccagcattcc	12	12	8	9	0	1	1	1	0	0	1	4	3	4	2	3	1	1	3	3	1	5	6			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr14:45403573G>T	ENST00000396128.4	-	3	1207	c.1088C>A	c.(1087-1089)aCa>aAa	p.T363K	KLHL28_ENST00000355081.2_Missense_Mutation_p.T377K	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	363										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCAAGTATTTGTATCAGGATT	0.398																																						ENST00000396128.4																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1087-1089)aCa>aAa		kelch-like family member 28							121	113	115					14																	45403573		2203	4300	6503	SO:0001583	missense	54813							g.chr14:45403573G>T	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"Kelch-like", "BTB/POZ domain containing"	19741	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 5", "kelch-like 28 (Drosophila)"	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.1088C>A	14.37:g.45403573G>T	ENSP00000379434:p.Thr363Lys					KLHL28_ENST00000355081.2_Missense_Mutation_p.T377K	p.T363K	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN			3	1207	-			363					Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	c.1088C>A	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981280	0.53827	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	T;T	0.80304	-1.36;-1.36	5.38	4.47	0.54385	Kelch-type beta propeller (1);	0.251718	0.45361	D	0.000363	T	0.78181	0.4243	M	0.61703	1.905	0.54753	D	0.999985	B	0.15141	0.012	B	0.21917	0.037	T	0.75399	-0.3331	10	0.46703	T	0.11	.	13.5226	0.61576	0.0766:0.0:0.9234:0.0	.	363	Q9NXS3	KLH28_HUMAN	K	363;377	ENSP00000379434:T363K;ENSP00000347193:T377K	ENSP00000347193:T377K	T	-	2	0	KLHL28	44473323	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.687000	0.54692	2.671000	0.90904	0.557000	0.71058	ACA		0.398	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			19	80	1	0	3.32936e-07	1	3.48421e-07	19	80					T	45403573	G	T	45403573	3	4	497	1	0	0	0	0	1	0	0	0	8382	1377	48	5	639	5	KLHL28	14	45403573	Missense_Mutation	SNP	G	TCGA-ZG-A9ND-01A-11D-A41K-08		45403573	61945967	22	32949											
HERC1	8925	broad.mit.edu	37	chr15	63991137	63991137	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttgcataaccagtctctGctatgtttcaggcgagccca	9	11	10	11	1	2	0	1	0	1	0	3	2	2	0	2	1	4	4	2	1	2	4			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr15:63991137G>A	ENST00000443617.2	-	26	4782	c.4695C>T	c.(4693-4695)agC>agT	p.S1565S	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1565					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			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						ACCAGTCTCTGCTATGTTTCA	0.393																																						ENST00000443617.2																			0				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						c.(4693-4695)agC>agT		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							160	155	156					15																	63991137		1883	4112	5995	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63991137G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4695C>T	15.37:g.63991137G>A						RP11-317G6.1_ENST00000559303.2_RNA	p.S1565S	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			26	4782	-			1565					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.4695C>T	CCDS45277.1																																																																																				0.393	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		4	112	0	0	0	1	0	4	112					A	63991137	G	A	63991137	2	1	497	1	0	0	0	0	0	0	0	1	7057	1310	46	3		3	HERC1	15	63991137	Silent	SNP	G	TCGA-ZG-A9ND-01A-11D-A41K-08		63991137	38540255	23	32950											
TRIM72	260434	broad.mit.edu	37	chr16	31226130	31226130	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgcagctgttcgacgcgcCcgtgacagccgagtgcggcc	5	6	14	16	6	0	1	0	1	0	0	1	3	0	1	4	1	4	3	4	1	0	1			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr16:31226130C>T	ENST00000302964.3	-	0	813				TRIM72_ENST00000322122.3_Missense_Mutation_p.P24L|PYDC1_ENST00000568383.1_5'Flank	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1						innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TTCGACGCGCCCGTGACAGCC	0.721																																						ENST00000322122.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						c.(70-72)cCc>cTc		tripartite motif containing 72							4	5	5					16																	31226130		1995	3968	5963	SO:0001628	intergenic_variant	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31226130C>T		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"pyrin domain containing 1"			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407		16.37:g.31226130C>T							p.P24L	NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN			2	355	+			24					B2R8L4|Q8NFP8	Missense_Mutation	SNP	ENST00000302964.3	37	c.71C>T	CCDS10710.1	.	.	.	.	.	.	.	.	.	.	C	36	5.628746	0.96671	.	.	ENSG00000177238	ENST00000322122	T	0.58940	0.3	5.1	5.1	0.69264	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.64402	D	0.000005	D	0.82407	0.5030	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87448	0.2399	10	0.87932	D	0	.	17.2765	0.87116	0.0:1.0:0.0:0.0	.	24	Q6ZMU5	TRI72_HUMAN	L	24	ENSP00000312675:P24L	ENSP00000312675:P24L	P	+	2	0	TRIM72	31133631	1.000000	0.71417	0.822000	0.32727	0.873000	0.50193	6.939000	0.75911	2.384000	0.81235	0.561000	0.74099	CCC		0.721	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		6	15	0	0	0	1	0	6	15					T	31226130	C	T	31226130	1	4	497	0	1	0	0	0	0	0	0	0	16542	623	22	3		3	TRIM72	16	31226130	IGR	SNP	C	TCGA-ZG-A9ND-01A-11D-A41K-08		31226130	59128623	24	32951											
FBXO39	162517	broad.mit.edu	37	chr17	6690256	6690256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcagaaagaacggcagtGtgccctgcgtgtattcaagg	11	8	14	8	2	2	2	2	0	0	2	2	3	2	2	1	2	3	2	1	2	4	2			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr17:6690256G>A	ENST00000321535.4	+	3	1311	c.1181G>A	c.(1180-1182)tGt>tAt	p.C394Y		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	394										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GAACGGCAGTGTGCCCTGCGT	0.512																																						ENST00000321535.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						c.(1180-1182)tGt>tAt		F-box protein 39							115	113	113					17																	6690256		2203	4300	6503	SO:0001583	missense	162517							g.chr17:6690256G>A	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"F-boxes /  "other""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.1181G>A	17.37:g.6690256G>A	ENSP00000321386:p.Cys394Tyr						p.C394Y	NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN			3	1311	+			394						Missense_Mutation	SNP	ENST00000321535.4	37	c.1181G>A	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592778	0.28357	.	.	ENSG00000177294	ENST00000321535	T	0.52983	0.64	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.52075	0.1712	N	0.24115	0.695	0.48087	D	0.999583	D	0.65815	0.995	D	0.75484	0.986	T	0.37267	-0.9713	10	0.19590	T	0.45	-19.2627	14.5936	0.68389	0.0:0.0:1.0:0.0	.	394	Q8N4B4	FBX39_HUMAN	Y	394	ENSP00000321386:C394Y	ENSP00000321386:C394Y	C	+	2	0	FBXO39	6630980	1.000000	0.71417	0.980000	0.43619	0.309000	0.27889	4.559000	0.60796	2.733000	0.93635	0.555000	0.69702	TGT		0.512	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		34	56	0	0	0	1	0	34	56					A	6690256	G	A	6690256	3	1	497	1	0	0	0	0	1	0	0	0	5747	1377	48	3	1187	3	FBXO39	17	6690256	Missense_Mutation	SNP	G	TCGA-ZG-A9ND-01A-11D-A41K-08		6690256	74504954	25	32952											
MAP2K3	5606	broad.mit.edu	37	chr17	21208397	21208397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccagagctgaaccagaaggGctacaatgtcaagtccgacg	13	5	11	12	2	1	3	1	1	0	2	2	4	2	3	3	1	3	2	3	1	5	1	rs148612005		TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr17:21208397G>A	ENST00000342679.4	+	9	980	c.731G>A	c.(730-732)gGc>gAc	p.G244D	MAP2K3_ENST00000316920.6_Missense_Mutation_p.G215D|MAP2K3_ENST00000361818.5_Missense_Mutation_p.G215D	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	244	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AACCAGAAGGGCTACAATGTC	0.637																																						ENST00000342679.4																			0											c.(730-732)gGc>gAc		mitogen-activated protein kinase kinase 3							181	154	163					17																	21208397		2203	4300	6503	SO:0001583	missense	5606				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	g.chr17:21208397G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.731G>A	17.37:g.21208397G>A	ENSP00000345083:p.Gly244Asp					MAP2K3_ENST00000316920.6_Missense_Mutation_p.G215D|MAP2K3_ENST00000361818.5_Missense_Mutation_p.G215D	p.G244D	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	9	980	+			244			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.731G>A	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421788	0.83559	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.65549	-0.16;-0.16	5.13	5.13	0.70059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.67477	0.2897	N	0.16368	0.405	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71520	-0.4568	10	0.49607	T	0.09	-34.6173	18.5726	0.91142	0.0:0.0:1.0:0.0	.	244	P46734	MP2K3_HUMAN	D	244;215;215;248	ENSP00000345083:G244D;ENSP00000355081:G215D	ENSP00000319139:G248D	G	+	2	0	MAP2K3	21148990	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.783000	0.85696	2.387000	0.81309	0.462000	0.41574	GGC		0.637	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		16	120	0	0	0	1	0	16	120					A	21208397	G	A	21208397	3	1	497	1	0	0	0	0	1	0	0	0	9238	1203	42	3	765	3	MAP2K3	17	21208397	Missense_Mutation	SNP	G	TCGA-ZG-A9ND-01A-11D-A41K-08	14518141	21208397	59986813	26	32953											
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	10	13	6	12	0	2	2	0	2	2	0	3	3	3	2	4	0	3	1	4	0	3	4			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr17:47696432A>C	ENST00000393328.2	-	6	756	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393331.3_Missense_Mutation_p.W131G|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Ggg		speckle-type POZ protein							121	124	123					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>G	17.37:g.47696432A>C	ENSP00000377001:p.Trp131Gly	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G	p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058244	0.76074	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	H	0.95402	3.665	0.80722	D	1	P	0.43024	0.798	P	0.47786	0.557	D	0.87031	0.2135	10	0.72032	D	0.01	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	G	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131G;ENSP00000377004:W131G;ENSP00000240327:W131G;ENSP00000425905:W131G;ENSP00000420908:W131G;ENSP00000426986:W131G;ENSP00000420960:W131G;ENSP00000426262:W131G;ENSP00000424119:W131G	ENSP00000240327:W131G	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		50	92	0	0	0	1	0	50	92					C	47696432	A	C	47696432	3	2	497	1	0	0	0	0	1	0	0	0	15083	188	7	5	757	5	SPOP	17	47696432	Missense_Mutation	SNP	A	TCGA-ZG-A9ND-01A-11D-A41K-08	26488035	47696432	33498778	27	32954											
DCXR	51181	broad.mit.edu	37	chr17	79993878	79993878	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccggcaaagtggaaccCgtggtcatgccacttcggtc	8	8	11	14	3	1	0	1	0	0	0	4	1	2	1	4	4	2	1	4	4	2	1	rs552483270	byFrequency	TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr17:79993878C>T	ENST00000306869.2	-	8	742	c.693G>A	c.(691-693)acG>acA	p.T231T	RP13-650J16.1_ENST00000584705.1_RNA|RP13-650J16.1_ENST00000582558.1_RNA|DCXR_ENST00000584318.1_5'Flank	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	231					D-xylose metabolic process (GO:0042732)|glucose metabolic process (GO:0006006)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|xylulose metabolic process (GO:0005997)	brush border (GO:0005903)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)	L-xylulose reductase (NADP+) activity (GO:0050038)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)			kidney(1)|lung(3)	4	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;0.0191)			AAGTGGAACCCGTGGTCATGC	0.622																																						ENST00000306869.2																			0				kidney(1)|lung(3)	4						c.(691-693)acG>acA		dicarbonyl/L-xylulose reductase							66	56	60					17																	79993878		2203	4300	6503	SO:0001819	synonymous_variant	51181				D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity	g.chr17:79993878C>T	AB013846	CCDS11799.1	17q25.3	2011-09-14				ENSG00000169738	1.1.1.10	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 20C, member 1"	608347				11882650, 19027726	Standard	NM_016286		Approved	KIDCR, DCR, SDR20C1	uc002kdg.3	Q7Z4W1		ENST00000306869.2:c.693G>A	17.37:g.79993878C>T							p.T231T	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		8	742	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		231					Q9BTZ3|Q9UHY9	Silent	SNP	ENST00000306869.2	37	c.693G>A	CCDS11799.1																																																																																				0.622	DCXR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442153.2			5	83	0	0	0	1	0	5	83					T	79993878	C	T	79993878	2	4	497	1	0	0	0	0	0	0	0	1	4319	639	23	2		2	DCXR	17	79993878	Silent	SNP	C	TCGA-ZG-A9ND-01A-11D-A41K-08	32297446	79993878	1201332	28	32955											
DCC	1630	broad.mit.edu	37	chr18	50994336	50994336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcacgccgagccccccGggccaagctcatgattccca	7	5	11	18	3	1	1	1	1	0	0	2	2	2	1	6	2	3	3	6	2	1	1			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr18:50994336G>A	ENST00000442544.2	+	25	4308	c.3692G>A	c.(3691-3693)cGg>cAg	p.R1231Q	DCC_ENST00000581580.1_Missense_Mutation_p.R866Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1231					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			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)		CGAGCCCCCCGGGCCAAGCTC	0.493																																						ENST00000442544.2																			0				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						c.(3691-3693)cGg>cAg		deleted in colorectal carcinoma							76	74	75					18																	50994336		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50994336G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3692G>A	18.37:g.50994336G>A	ENSP00000389140:p.Arg1231Gln					DCC_ENST00000581580.1_Missense_Mutation_p.R866Q	p.R1231Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	25	4308	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1231						Missense_Mutation	SNP	ENST00000442544.2	37	c.3692G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.423884	0.62733	.	.	ENSG00000187323	ENST00000442544	T	0.55588	0.51	4.95	4.95	0.65309	Neogenin, C-terminal (1);	0.000000	0.64402	D	0.000007	T	0.70386	0.3218	M	0.68593	2.085	0.45502	D	0.998469	D	0.89917	1.0	D	0.97110	1.0	T	0.68409	-0.5416	10	0.33940	T	0.23	.	17.3198	0.87232	0.0:0.0:1.0:0.0	.	1231	P43146	DCC_HUMAN	Q	1231	ENSP00000389140:R1231Q	ENSP00000389140:R1231Q	R	+	2	0	DCC	49248334	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.831000	0.92068	2.441000	0.82636	0.650000	0.86243	CGG		0.493	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		24	39	0	0	0	1	0	24	39					A	50994336	G	A	50994336	3	1	497	1	0	0	0	0	1	0	0	0	4282	1116	39	2	3790	2	DCC	18	50994336	Missense_Mutation	SNP	G	TCGA-ZG-A9ND-01A-11D-A41K-08		50994336	27082912	29	32956											
ZNF347	84671	broad.mit.edu	37	chr19	53644064	53644064	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacctccagtatgaactcTccgatgtcttgcaaggtgtg	8	14	9	10	1	2	1	0	1	2	0	4	2	3	1	3	1	3	2	3	1	4	4			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr19:53644064T>C	ENST00000334197.7	-	5	2085	c.2017A>G	c.(2017-2019)Aga>Gga	p.R673G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G|ZNF347_ENST00000452676.2_Missense_Mutation_p.R674G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	673					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GTATGAACTCTCCGATGTCTT	0.428																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2020-2022)Aga>Gga		zinc finger protein 347							161	146	151					19																	53644064		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644064T>C	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2017A>G	19.37:g.53644064T>C	ENSP00000334146:p.Arg673Gly					ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G|ZNF347_ENST00000334197.7_Missense_Mutation_p.R673G	p.R674G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2446	-			673					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2020A>G	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	T	9.306	1.054384	0.19907	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.02421	4.3;4.3	2.94	1.91	0.25777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05456	0.0144	M	0.83692	2.655	0.09310	N	0.999998	B;P	0.38504	0.169;0.634	B;B	0.36418	0.034;0.224	T	0.23476	-1.0187	9	0.72032	D	0.01	.	5.9153	0.19052	0.0:0.2437:0.0:0.7563	.	674;673	G5E9N4;Q96SE7	.;ZN347_HUMAN	G	673;674	ENSP00000334146:R673G;ENSP00000405218:R674G	ENSP00000334146:R673G	R	-	1	2	ZNF347	58335876	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.856000	0.01662	0.362000	0.24319	-0.256000	0.11100	AGA		0.428	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		5	147	0	0	0	1	0	5	147					C	53644064	T	C	53644064	3	2	497	1	0	0	0	0	1	0	0	0	17858	1559	54	4	506	4	ZNF347	19	53644064	Missense_Mutation	SNP	T	TCGA-ZG-A9ND-01A-11D-A41K-08		53644064	5484919	30	32957											
APOL4	80832	broad.mit.edu	37	chr22	36587725	36587725	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgccaatgacagacaggaTgccagtggagccagacacca	15	3	11	12	1	0	3	0	1	0	2	0	5	0	5	4	2	3	0	4	2	2	0			TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chr22:36587725T>C	ENST00000352371.1	-	6	675	c.451A>G	c.(451-453)Atc>Gtc	p.I151V	APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000332987.1_Missense_Mutation_p.I148V|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000479929.1_5'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	152					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	extracellular space (GO:0005615)	lipid binding (GO:0008289)			lung(1)	1						ACAGACAGGATGCCAGTGGAG	0.532																																						ENST00000332987.1																			0				lung(1)	1						c.(442-444)Atc>Gtc		apolipoprotein L, 4							63	69	67					22																	36587725		2195	4298	6493	SO:0001583	missense	80832				lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding	g.chr22:36587725T>C	AF305226	CCDS74851.1, CCDS74852.1	22q11.2-q13.2	2013-01-24			ENSG00000100336	ENSG00000100336		"Apolipoproteins"	14867	protein-coding gene	gene with protein product		607254				11374903	Standard	NM_030643		Approved	APOLIV	uc003aox.3	Q9BPW4	OTTHUMG00000150630	ENST00000352371.1:c.451A>G	22.37:g.36587725T>C	ENSP00000338260:p.Ile151Val					APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.I151V	p.I148V			Q9BPW4	APOL4_HUMAN			7	864	-			152					Q9BQ37|Q9BXQ8	Missense_Mutation	SNP	ENST00000352371.1	37	c.442A>G		.	.	.	.	.	.	.	.	.	.	t	0.051	-1.250111	0.01469	.	.	ENSG00000100336	ENST00000352371;ENST00000332987	T;T	0.02656	4.21;4.21	2.2	-4.41	0.03590	.	0.635660	0.16943	N	0.193210	T	0.01254	0.0041	N	0.11756	0.17	0.09310	N	0.999997	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.003	T	0.42865	-0.9426	10	0.07030	T	0.85	.	6.3766	0.21511	0.0:0.2104:0.1397:0.6499	.	152;148	Q9BPW4;Q9BPW4-3	APOL4_HUMAN;.	V	151;148	ENSP00000338260:I151V;ENSP00000333229:I148V	ENSP00000333229:I148V	I	-	1	0	APOL4	34917671	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	-0.843000	0.04350	-2.265000	0.00688	-1.522000	0.00932	ATC		0.532	APOL4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145660		11	18	0	0	0	1	0	11	18					C	36587725	T	C	36587725	3	2	497	1	0	0	0	0	1	0	0	0	808	1464	51	4	605	4	APOL4	22	36587725	Missense_Mutation	SNP	T	TCGA-ZG-A9ND-01A-11D-A41K-08		36587725	14716841	31	32958											
FAM47B	170062	broad.mit.edu	37	chrX	34961838	34961838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgtatctcatctccaccCggagcctcctgagactggag	7	9	10	15	3	2	1	1	1	2	1	6	4	3	3	4	2	1	1	4	2	1	1	rs370213556		TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chrX:34961838C>T	ENST00000329357.5	+	1	926	c.890C>T	c.(889-891)cCg>cTg	p.P297L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	297	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CATCTCCACCCGGAGCCTCCT	0.632													C|||	1	0.000264901	0	0	3775	,	,		10814	0		0	False		,,,				2504	0.001					ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(889-891)cCg>cTg		family with sequence similarity 47, member B		C	LEU/PRO	1,3832		0,1,1630,571	55	54	54		890	-0.5	0	X		54	0,6728		0,0,2428,1872	no	missense	FAM47B	NM_152631.2	98	0,1,4058,2443	TT,TC,CC,C		0.0,0.0261,0.0095	benign	297/646	34961838	1,10560	2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961838C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.890C>T	X.37:g.34961838C>T	ENSP00000328307:p.Pro297Leu						p.P297L	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	926	+			297			Pro-rich.		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.890C>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	4.228	0.041221	0.08196	2.61E-4	0.0	ENSG00000189132	ENST00000329357	T	0.22743	1.94	0.235	-0.47	0.12131	.	.	.	.	.	T	0.10680	0.0261	N	0.16833	0.445	0.31669	N	0.644547	B	0.19583	0.037	B	0.11329	0.006	T	0.17349	-1.0372	9	0.45353	T	0.12	.	4.5926	0.12315	0.0:0.693:0.0:0.307	.	297	Q8NA70	FA47B_HUMAN	L	297	ENSP00000328307:P297L	ENSP00000328307:P297L	P	+	2	0	FAM47B	34871759	0.213000	0.23551	0.014000	0.15608	0.014000	0.08584	-1.801000	0.01743	-0.727000	0.04888	-0.724000	0.03597	CCG		0.632	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		39	14	0	0	0	1	0	39	14					T	34961838	C	T	34961838	3	4	497	1	0	0	0	0	1	0	0	0	5570	652	23	2	892	2	FAM47B	23	34961838	Missense_Mutation	SNP	C	TCGA-ZG-A9ND-01A-11D-A41K-08		34961838	120308722	32	32959											
ITIH5L	347365	broad.mit.edu	37	chrX	54777747	54777747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgatgatctggaagtagGtgcgagtctggtccttgtgg	6	13	16	6	1	2	2	0	2	2	0	3	4	3	3	1	4	1	1	1	4	2	2	rs199792420		TCGA-ZG-A9ND-01A-11D-A41K-08	TCGA-ZG-A9ND-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f	1ed242e5-cb06-4cb6-b21f-fef81d717693	g.chrX:54777747G>T	ENST00000218436.6	-	12	3448	c.3419C>A	c.(3418-3420)aCc>aAc	p.T1140N		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1140					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CTGGAAGTAGGTGCGAGTCTG	0.607																																						ENST00000218436.6																			0											c.(3418-3420)aCc>aAc		inter-alpha-trypsin inhibitor heavy chain family, member 6							72	60	64					X																	54777747		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54777747G>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3419C>A	X.37:g.54777747G>T	ENSP00000218436:p.Thr1140Asn						p.T1140N	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			12	3448	-			1140					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.3419C>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790055	0.70337	.	.	ENSG00000102313	ENST00000218436	T	0.19250	2.16	3.43	3.43	0.39272	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.612815	0.15181	U	0.276092	T	0.45256	0.1333	M	0.70275	2.135	0.36340	D	0.859436	D	0.89917	1.0	D	0.91635	0.999	T	0.56498	-0.7969	10	0.66056	D	0.02	.	13.2584	0.60091	0.0:0.0:1.0:0.0	.	1140	Q6UXX5	ITH5L_HUMAN	N	1140	ENSP00000218436:T1140N	ENSP00000218436:T1140N	T	-	2	0	ITIH5L	54794472	0.999000	0.42202	0.823000	0.32752	0.892000	0.51952	1.878000	0.39608	1.311000	0.45024	0.287000	0.19450	ACC		0.607	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		28	3	1	0	1.33986e-20	1	1.47058e-20	28	3					T	54777747	G	T	54777747	3	4	497	1	0	0	0	0	1	0	0	0	7908	1261	44	5	530	5	ITIH5L	23	54777747	Missense_Mutation	SNP	G	TCGA-ZG-A9ND-01A-11D-A41K-08	19815909	54777747	100492813	33	32960											
MACF1	23499	broad.mit.edu	37	chr1	39815268	39815268	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccacccagcaggatctctCtgctttgcagaagaaccaaa	14	7	7	13	0	2	2	0	0	2	2	3	3	2	3	3	1	5	3	3	1	4	1			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:39815268C>G	ENST00000372915.3	+	41	11036	c.10949C>G	c.(10948-10950)tCt>tGt	p.S3650C	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000564288.1_Missense_Mutation_p.S3645C|MACF1_ENST00000539005.1_Missense_Mutation_p.S1583C|MACF1_ENST00000567887.1_Missense_Mutation_p.S3682C|MACF1_ENST00000545844.1_Missense_Mutation_p.S1583C|MACF1_ENST00000289893.4_Missense_Mutation_p.S2085C|MACF1_ENST00000361689.2_Missense_Mutation_p.S1583C|MACF1_ENST00000317713.7_Missense_Mutation_p.S1583C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3650					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			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)			CAGGATCTCTCTGCTTTGCAG	0.498																																						ENST00000564288.1																			0				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						c.(10933-10935)tCt>tGt		microtubule-actin crosslinking factor 1							100	105	104					1																	39815268		2203	4300	6503	SO:0001583	missense	23499				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	g.chr1:39815268C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.10949C>G	1.37:g.39815268C>G	ENSP00000362006:p.Ser3650Cys					MACF1_ENST00000361689.2_Missense_Mutation_p.S1583C|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.S3682C|MACF1_ENST00000372915.3_Missense_Mutation_p.S3650C|MACF1_ENST00000289893.4_Missense_Mutation_p.S2085C|MACF1_ENST00000539005.1_Missense_Mutation_p.S1583C|MACF1_ENST00000317713.7_Missense_Mutation_p.S1583C|MACF1_ENST00000545844.1_Missense_Mutation_p.S1583C	p.S3645C			Q9UPN3	MACF1_HUMAN	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)		42	11711	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3650					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.10934C>G		.	.	.	.	.	.	.	.	.	.	C	20.8	4.048335	0.75846	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893	T;T;T;T;T;T;T	0.63913	1.25;-0.07;1.25;1.25;1.25;1.25;1.03	5.87	5.87	0.94306	.	0.265186	0.29307	N	0.012529	T	0.68851	0.3046	L	0.50333	1.59	0.80722	D	1	D;B;B;B	0.58620	0.983;0.001;0.003;0.001	P;B;B;B	0.51866	0.682;0.007;0.012;0.012	T	0.70905	-0.4745	10	0.72032	D	0.01	.	18.3838	0.90459	0.0:1.0:0.0:0.0	.	3650;1583;1583;1548	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	MACF1_HUMAN;.;.;.	C	1583;3650;1583;1583;1583;1732;2085	ENSP00000439537:S1583C;ENSP00000362006:S3650C;ENSP00000354573:S1583C;ENSP00000313438:S1583C;ENSP00000444364:S1583C;ENSP00000437059:S1732C;ENSP00000289893:S2085C	ENSP00000289893:S2085C	S	+	2	0	MACF1	39587855	0.012000	0.17670	0.996000	0.52242	0.920000	0.55202	1.517000	0.35867	2.779000	0.95612	0.655000	0.94253	TCT		0.498	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		16	31	0	0	0	1	0	16	31					G	39815268	C	G	39815268	3	3	498	1	0	0	0	0	1	0	0	0	9144	913	32	5	11045	5	MACF1	1	39815268	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08		39815268	209435353	1	32961											
LRRC8B	23507	broad.mit.edu	37	chr1	90048805	90048805	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcagggtgttcagctgacaTagattccggcaaacagtcat	11	10	10	10	1	3	2	3	1	0	1	4	2	4	2	1	2	2	3	1	2	2	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:90048805T>C	ENST00000330947.2	+	5	956	c.596T>C	c.(595-597)aTa>aCa	p.I199T	LRRC8B_ENST00000358200.4_Missense_Mutation_p.I199T|LRRC8B_ENST00000439853.1_Missense_Mutation_p.I199T|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	199					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)		TCAGCTGACATAGATTCCGGC	0.527																																						ENST00000330947.2																			0				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						c.(595-597)aTa>aCa		leucine rich repeat containing 8 family, member B							55	60	58					1																	90048805		2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90048805T>C	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.596T>C	1.37:g.90048805T>C	ENSP00000332674:p.Ile199Thr					LRRC8B_ENST00000358200.4_Missense_Mutation_p.I199T|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Missense_Mutation_p.I199T	p.I199T	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	5	956	+		all_lung(203;0.17)	199					D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.596T>C	CCDS724.1	.	.	.	.	.	.	.	.	.	.	T	0.356	-0.942126	0.02322	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853;ENST00000541858	T;T;T	0.35048	1.33;1.33;1.33	5.0	3.86	0.44501	.	0.619336	0.15434	N	0.262536	T	0.08935	0.0221	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16837	-1.0389	9	.	.	.	.	7.8343	0.29362	0.0:0.1588:0.0:0.8412	.	199	Q6P9F7	LRC8B_HUMAN	T	199	ENSP00000332674:I199T;ENSP00000350933:I199T;ENSP00000400704:I199T	.	I	+	2	0	LRRC8B	89821393	0.001000	0.12720	0.046000	0.18839	0.198000	0.23893	0.345000	0.19979	1.995000	0.58328	0.533000	0.62120	ATA		0.527	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		10	41	0	0	0	1	0	10	41					C	90048805	T	C	90048805	3	2	498	1	0	0	0	0	1	0	0	0	9022	1406	49	4	598	4	LRRC8B	1	90048805	Missense_Mutation	SNP	T	TCGA-ZG-A9NI-01A-11D-A41K-08	50233537	90048805	159201816	2	32962											
ATF6	22926	broad.mit.edu	37	chr1	161789484	161789484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatccgcttgtcagtctcGcaagaagaagaaagaatata	17	8	9	7	2	2	5	1	0	1	5	4	5	3	5	1	0	0	2	1	0	8	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:161789484G>A	ENST00000367942.3	+	8	1038	c.971G>A	c.(970-972)cGc>cAc	p.R324H		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	324	Basic motif.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	TGTCAGTCTCGCAAGAAGAAG	0.403																																						ENST00000367942.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(970-972)cGc>cAc		activating transcription factor 6							69	68	69					1																	161789484		2203	4300	6503	SO:0001583	missense	22926				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	g.chr1:161789484G>A	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"basic leucine zipper proteins"	791	protein-coding gene	gene with protein product	"activating transcription factor 6 alpha"	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.971G>A	1.37:g.161789484G>A	ENSP00000356919:p.Arg324His						p.R324H	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		8	1038	+	all_hematologic(112;0.156)		324					O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.971G>A	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914850	0.92178	.	.	ENSG00000118217	ENST00000367942	D	0.94232	-3.38	5.19	5.19	0.71726	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.97917	0.9315	H	0.97440	4.005	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99334	1.0910	9	0.87932	D	0	-21.4576	16.2232	0.82269	0.0:0.0:1.0:0.0	.	324;325	P18850;Q59H30	ATF6A_HUMAN;.	H	324	ENSP00000356919:R324H	ENSP00000356919:R324H	R	+	2	0	ATF6	160056108	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	8.517000	0.90555	2.408000	0.81797	0.650000	0.86243	CGC		0.403	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		6	58	0	0	0	1	0	6	58					A	161789484	G	A	161789484	3	1	498	1	0	0	0	0	1	0	0	0	1084	1087	38	1	1001	1	ATF6	1	161789484	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	71740679	161789484	87461137	3	32963											
OLFML2B	25903	broad.mit.edu	37	chr1	161989785	161989785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggattgagggccgatgggGgtgctacacaggcacacttg	9	7	17	8	1	0	1	0	1	0	0	0	3	0	2	1	5	2	2	1	5	1	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:161989785G>A	ENST00000294794.3	-	2	785	c.362C>T	c.(361-363)cCc>cTc	p.P121L	OLFML2B_ENST00000367940.2_Missense_Mutation_p.P121L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	121					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGCCGATGGGGGTGCTACACA	0.602																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(361-363)cCc>cTc		olfactomedin-like 2B							79	77	78					1																	161989785		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161989785G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.362C>T	1.37:g.161989785G>A	ENSP00000294794:p.Pro121Leu					OLFML2B_ENST00000367940.2_Missense_Mutation_p.P121L	p.P121L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		2	785	-	all_hematologic(112;0.156)		121					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.362C>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879707	0.72294	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	T;T	0.47528	0.84;0.84	4.64	4.64	0.57946	.	.	.	.	.	T	0.54902	0.1887	L	0.58510	1.815	0.43830	D	0.996407	D;D	0.76494	0.997;0.999	P;D	0.63113	0.826;0.911	T	0.60393	-0.7272	8	0.87932	D	0	.	15.4076	0.74890	0.0:0.0:1.0:0.0	.	121;121	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	L	121	ENSP00000294794:P121L;ENSP00000356917:P121L	ENSP00000294794:P121L	P	-	2	0	OLFML2B	160256409	1.000000	0.71417	0.148000	0.22405	0.412000	0.31113	8.997000	0.93544	2.575000	0.86900	0.561000	0.74099	CCC		0.602	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		5	29	0	0	0	1	0	5	29					A	161989785	G	A	161989785	3	1	498	1	0	0	0	0	1	0	0	0	10858	1232	43	3	1918	3	OLFML2B	1	161989785	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	200301	161989785	87260836	4	32964											
HSD17B7	51478	broad.mit.edu	37	chr1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggacatcatctcgcaGtgcaaggaaatctaatttca	13	11	7	10	1	5	0	2	0	3	0	6	2	5	2	0	2	1	2	0	2	3	2			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3																			4	Substitution - Missense(4)	p.S173N(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						76	70	72					1																	162769603		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5215	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 37C, member 1"	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn					HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		4	54	0	0	0	1	0	4	54					A	162769603	G	A	162769603	3	1	498	1	0	0	0	0	1	0	0	0	7388	1029	36	3	536	3	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	779818	162769603	86481018	5	32965											
TOR1AIP2	163590	broad.mit.edu	37	chr1	179820467	179820467	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcgcctgagaatttacTgatggatcattttccaaatc	10	14	7	10	1	1	2	1	2	0	1	4	4	3	3	3	1	2	0	3	1	3	4			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:179820467T>A	ENST00000367612.3	-	4	453	c.66A>T	c.(64-66)tcA>tcT	p.S22S	TOR1AIP2_ENST00000609928.1_Silent_p.S22S	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GAGAATTTACTGATGGATCAT	0.368																																						ENST00000367612.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						c.(64-66)tcA>tcT		torsin A interacting protein 2							90	89	89					1																	179820467		2202	4300	6502	SO:0001819	synonymous_variant	163590					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:179820467T>A		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.66A>T	1.37:g.179820467T>A							p.S22S	NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN			4	453	-			22					Q05BU2	Silent	SNP	ENST00000367612.3	37	c.66A>T	CCDS1334.1																																																																																				0.368	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		4	68	0	0	0	1	0	4	68					A	179820467	T	A	179820467	2	1	498	1	0	0	0	0	0	0	0	1	16370	1567	55	5		5	TOR1AIP2	1	179820467	Silent	SNP	T	TCGA-ZG-A9NI-01A-11D-A41K-08	17050864	179820467	69430154	6	32966											
HMCN1	83872	broad.mit.edu	37	chr1	186072727	186072727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgacctggatgaaagatgGccggccccttccacagacgg	11	6	12	12	2	0	4	0	2	0	2	1	5	1	5	5	4	0	0	5	4	2	1	rs41317483	byFrequency	TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:186072727G>T	ENST00000271588.4	+	69	10926	c.10697G>T	c.(10696-10698)gGc>gTc	p.G3566V	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3566V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3566	Ig-like C2-type 34.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			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						ATGAAAGATGGCCGGCCCCTT	0.433																																						ENST00000271588.4																			0				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						c.(10696-10698)gGc>gTc		hemicentin 1							70	74	73					1																	186072727		2203	4299	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186072727G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10697G>T	1.37:g.186072727G>T	ENSP00000271588:p.Gly3566Val					HMCN1_ENST00000367492.2_Missense_Mutation_p.G3566V	p.G3566V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			69	10926	+			3566			Ig-like C2-type 34.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.10697G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061593	0.93846	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.82803	-1.65;-1.65	5.7	5.7	0.88788	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94278	0.8162	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95201	0.8317	10	0.66056	D	0.02	.	19.8411	0.96685	0.0:0.0:1.0:0.0	.	3566	Q96RW7	HMCN1_HUMAN	V	3566	ENSP00000271588:G3566V;ENSP00000356462:G3566V	ENSP00000271588:G3566V	G	+	2	0	HMCN1	184339350	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	7.280000	0.78610	2.683000	0.91414	0.655000	0.94253	GGC		0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		3	50	1	0	0.004672	1	0.00501807	3	50					T	186072727	G	T	186072727	3	4	498	1	0	0	0	0	1	0	0	0	7220	1203	42	5	10971	5	HMCN1	1	186072727	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	6252260	186072727	63177894	7	32967											
KCNT2	343450	broad.mit.edu	37	chr1	196392206	196392206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctatccacttcacaacGgctactgagaataaaacagg	14	9	7	11	1	1	1	1	1	0	1	3	2	3	1	2	2	3	1	2	2	6	4			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:196392206G>A	ENST00000294725.9	-	12	2074	c.1159C>T	c.(1159-1161)Cgt>Tgt	p.R387C	KCNT2_ENST00000367431.4_Missense_Mutation_p.R387C|KCNT2_ENST00000609185.1_Missense_Mutation_p.R387C|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.R387C|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	387					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACTTCACAACGGCTACTGAGA	0.308																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(1159-1161)Cgt>Tgt		potassium channel, subfamily T, member 2							60	56	57					1																	196392206		2202	4299	6501	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196392206G>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1159C>T	1.37:g.196392206G>A	ENSP00000294725:p.Arg387Cys					KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.8_Missense_Mutation_p.R387C|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.R387C	p.R387C			Q6UVM3	KCNT2_HUMAN			12	1260	-			387					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.1159C>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733977	0.69189	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	T;T;T	0.21191	2.02;2.06;2.26	5.38	4.41	0.53225	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000016	T	0.49779	0.1577	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.99;0.998	T	0.55866	-0.8073	10	0.87932	D	0	-13.8268	13.8697	0.63610	0.0:0.0:0.7392:0.2608	.	387;387;387;387	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	C	387;387;208;387	ENSP00000356403:R387C;ENSP00000356401:R387C;ENSP00000294725:R387C	ENSP00000294725:R387C	R	-	1	0	KCNT2	194658829	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.078000	0.41567	2.678000	0.91216	0.585000	0.79938	CGT		0.308	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		11	25	0	0	0	1	0	11	25					A	196392206	G	A	196392206	3	1	498	1	0	0	0	0	1	0	0	0	8092	1116	39	2	2316	2	KCNT2	1	196392206	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	10319479	196392206	52858415	8	32968											
SERTAD4	56256	broad.mit.edu	37	chr1	210414981	210414981	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttatcgatgatcctgaaGtgtacctccgaagatctgtc	10	13	9	9	2	1	3	0	2	1	1	5	5	3	3	3	0	1	2	3	0	4	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:210414981G>C	ENST00000367012.3	+	4	600	c.370G>C	c.(370-372)Gtg>Ctg	p.V124L	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	124	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.					nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGATCCTGAAGTGTACCTCCG	0.368																																						ENST00000367012.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14						c.(370-372)Gtg>Ctg		SERTA domain containing 4							94	98	96					1																	210414981		2203	4300	6503	SO:0001583	missense	56256						protein binding	g.chr1:210414981G>C	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.370G>C	1.37:g.210414981G>C	ENSP00000355979:p.Val124Leu					SERTAD4_ENST00000490620.1_3'UTR	p.V124L	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)	4	600	+			124			SERTA.		B2RD32	Missense_Mutation	SNP	ENST00000367012.3	37	c.370G>C	CCDS1494.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143494	0.57044	.	.	ENSG00000082497	ENST00000367012	.	.	.	5.66	4.75	0.60458	.	0.070593	0.53938	D	0.000041	T	0.46268	0.1384	N	0.22421	0.69	0.35581	D	0.806277	B	0.29936	0.262	B	0.30855	0.121	T	0.58526	-0.7621	9	0.72032	D	0.01	-33.5881	14.8004	0.69909	0.0694:0.0:0.9306:0.0	.	124	Q9NUC0	SRTD4_HUMAN	L	124	.	ENSP00000355979:V124L	V	+	1	0	SERTAD4	208481604	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	7.867000	0.87062	1.391000	0.46566	0.655000	0.94253	GTG		0.368	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		17	86	0	0	0	1	0	17	86					C	210414981	G	C	210414981	3	2	498	1	0	0	0	0	1	0	0	0	14123	1029	36	5	380	5	SERTAD4	1	210414981	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	14022775	210414981	38835640	9	32969											
TBCE	6905	broad.mit.edu	37	chr1	235597548	235597548	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgtcgcggggtgcccaggCctggaggaactctaccttga	6	9	15	11	2	1	1	0	1	1	0	2	3	1	3	3	5	3	0	3	5	2	2			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:235597548C>T	ENST00000366601.3	+	8	866	c.690C>T	c.(688-690)ggC>ggT	p.G230G	TBCE_ENST00000543662.1_Silent_p.G281G|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Silent_p.G230G			Q15813	TBCE_HUMAN	tubulin folding cofactor E	230					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			GGTGCCCAGGCCTGGAGGAAC	0.502																																						ENST00000543662.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14						c.(841-843)ggC>ggT		tubulin folding cofactor E							144	146	145					1																	235597548		2203	4300	6503	SO:0001819	synonymous_variant	6905				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	g.chr1:235597548C>T	U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"tubulin-specific chaperone e", "Kenny-Caffey syndrome", "hypoparathyroidism, growth and mental retardation, and dysmorphism"	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.690C>T	1.37:g.235597548C>T						TBCE_ENST00000366601.3_Silent_p.G230G|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Silent_p.G230G	p.G281G			Q15813	TBCE_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)		9	949	+	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)	230					A8K8C2|B7Z3P1	Silent	SNP	ENST00000366601.3	37	c.843C>T	CCDS1605.1																																																																																				0.502	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3	NM_003193		8	84	0	0	0	1	0	8	84					T	235597548	C	T	235597548	2	4	498	1	0	0	0	0	0	0	0	1	15631	726	26	3		3	TBCE	1	235597548	Silent	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	25182567	235597548	13653073	10	32970											
AKT3	10000	broad.mit.edu	37	chr1	243809322	243809322	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgctacagcctggataGcttctgtccattcttcccta	6	15	7	13	0	3	0	0	0	3	0	5	1	5	1	3	1	4	2	3	1	3	6			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:243809322G>C	ENST00000366539.1	-	5	502	c.302C>G	c.(301-303)gCt>gGt	p.A101G	AKT3_ENST00000366540.1_Missense_Mutation_p.A101G|AKT3_ENST00000336199.5_Missense_Mutation_p.A101G|AKT3_ENST00000263826.5_Missense_Mutation_p.A101G			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	101	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			AGCCTGGATAGCTTCTGTCCA	0.333																																						ENST00000366539.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(301-303)gCt>gGt		v-akt murine thymoma viral oncogene homolog 3							112	105	108					1																	243809322		2203	4300	6503	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243809322G>C	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"Pleckstrin homology (PH) domain containing"	393	protein-coding gene	gene with protein product	"protein kinase B, gamma"	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.302C>G	1.37:g.243809322G>C	ENSP00000355497:p.Ala101Gly					AKT3_ENST00000366540.1_Missense_Mutation_p.A101G|AKT3_ENST00000336199.5_Missense_Mutation_p.A101G|AKT3_ENST00000263826.5_Missense_Mutation_p.A101G	p.A101G			Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		5	502	-	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)	101			PH.		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.302C>G	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401431	0.83120	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826;ENST00000552631	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	4.78	4.78	0.61160	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89487	0.6729	H	0.94183	3.505	0.80722	D	1	D;D	0.59357	0.985;0.981	D;P	0.63113	0.911;0.856	D	0.91465	0.5192	10	0.66056	D	0.02	.	11.3414	0.49535	0.0836:0.0:0.9164:0.0	.	101;101	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	G	101	ENSP00000336943:A101G;ENSP00000355498:A101G;ENSP00000355497:A101G;ENSP00000263826:A101G;ENSP00000447820:A101G	ENSP00000263826:A101G	A	-	2	0	AKT3	241875945	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.061000	0.89467	2.187000	0.69744	0.491000	0.48974	GCT		0.333	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		11	26	0	0	0	1	0	11	26					C	243809322	G	C	243809322	3	2	498	1	0	0	0	0	1	0	0	0	481	971	34	5	1225	5	AKT3	1	243809322	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	8211774	243809322	5441299	11	32971											
LPIN1	23175	broad.mit.edu	37	chr2	11955224	11955224	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtctttcaggaatggatatAaatttctctactgttctgcc	9	17	7	8	0	4	0	1	0	3	0	5	2	4	2	1	2	2	1	1	2	5	6			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr2:11955224A>T	ENST00000256720.2	+	17	2245	c.2152A>T	c.(2152-2154)Aaa>Taa	p.K718*	LPIN1_ENST00000396099.1_Nonsense_Mutation_p.K760*|LPIN1_ENST00000449576.2_Nonsense_Mutation_p.K803*|LPIN1_ENST00000396097.1_Nonsense_Mutation_p.K448*|LPIN1_ENST00000425416.2_Nonsense_Mutation_p.K724*|LPIN1_ENST00000404113.2_Nonsense_Mutation_p.K219*	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	718	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GAATGGATATAAATTTCTCTA	0.502																																						ENST00000256720.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(2152-2154)Aaa>Taa		lipin 1							52	51	52					2																	11955224		2203	4300	6503	SO:0001587	stop_gained	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11955224A>T	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2152A>T	2.37:g.11955224A>T	ENSP00000256720:p.Lys718*					LPIN1_ENST00000404113.2_Nonsense_Mutation_p.K219*|LPIN1_ENST00000396097.1_Nonsense_Mutation_p.K448*|LPIN1_ENST00000449576.2_Nonsense_Mutation_p.K803*|LPIN1_ENST00000425416.2_Nonsense_Mutation_p.K724*|LPIN1_ENST00000396099.1_Nonsense_Mutation_p.K760*	p.K718*	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	17	2245	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		718			C-LIP.		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Nonsense_Mutation	SNP	ENST00000256720.2	37	c.2152A>T	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	A	41	8.571305	0.98868	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.8249	14.1851	0.65601	1.0:0.0:0.0:0.0	.	.	.	.	X	803;760;724;718;448;219	.	ENSP00000256720:K718X	K	+	1	0	LPIN1	11872675	1.000000	0.71417	0.888000	0.34837	0.488000	0.33401	8.780000	0.91799	1.752000	0.51891	0.533000	0.62120	AAA		0.502	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		3	33	0	0	0	1	0	3	33					T	11955224	A	T	11955224	4	4	498	1	0	0	0	0	0	1	0	0	8918	363	13	5	2214	5	LPIN1	2	11955224	Nonsense_Mutation	SNP	A	TCGA-ZG-A9NI-01A-11D-A41K-08		11955224	231244149	12	32972											
ITSN2	50618	broad.mit.edu	37	chr2	24526684	24526684	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaccaaatagtagccagctGagtttgagaaagatttgact	14	12	9	6	0	0	4	0	3	0	2	0	5	0	4	2	0	3	3	2	0	5	5			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr2:24526684G>A	ENST00000355123.4	-	9	1284	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	ITSN2_ENST00000406921.3_Nonsense_Mutation_p.Q281*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.Q281*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	281	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			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)					GTAGCCAGCTGAGTTTGAGAA	0.313																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(841-843)Cag>Tag		intersectin 2							86	88	88					2																	24526684		2203	4300	6503	SO:0001587	stop_gained	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24526684G>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.841C>T	2.37:g.24526684G>A	ENSP00000347244:p.Gln281*					ITSN2_ENST00000406921.3_Nonsense_Mutation_p.Q281*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.Q281*	p.Q281*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			9	1284	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		281			EH 2.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Nonsense_Mutation	SNP	ENST00000355123.4	37	c.841C>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	38	6.891022	0.97912	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	.	.	.	4.79	3.91	0.45181	.	0.000000	0.35466	U	0.003186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	12.9828	0.58575	0.0778:0.0:0.9222:0.0	.	.	.	.	X	281;281;281;305;281;306	.	ENSP00000347244:Q281X	Q	-	1	0	ITSN2	24380188	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.915000	0.92740	1.390000	0.46547	0.478000	0.44815	CAG		0.313	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		15	36	0	0	0	1	0	15	36					A	24526684	G	A	24526684	4	1	498	1	0	0	0	0	0	1	0	0	7927	1299	45	3	4431	3	ITSN2	2	24526684	Nonsense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	12571460	24526684	218672689	13	32973											
CRIM1	51232	broad.mit.edu	37	chr2	36691745	36691745	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccactccccgcatagtctCtcgtggcgatgggacacctg	7	9	10	15	3	1	0	0	0	1	0	5	2	3	1	4	2	0	1	4	2	1	1			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr2:36691745C>G	ENST00000280527.2	+	5	1305	c.938C>G	c.(937-939)tCt>tGt	p.S313C		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	313					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CGCATAGTCTCTCGTGGCGAT	0.498																																						ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(937-939)tCt>tGt		cysteine rich transmembrane BMP regulator 1 (chordin-like)							297	271	279					2																	36691745		2203	4300	6503	SO:0001583	missense	51232				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	g.chr2:36691745C>G	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.938C>G	2.37:g.36691745C>G	ENSP00000280527:p.Ser313Cys						p.S313C	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			5	1305	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	313					Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.938C>G	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800202	0.90538	.	.	ENSG00000150938	ENST00000280527;ENST00000426856	T	0.04809	3.55	5.94	5.94	0.96194	.	0.059663	0.64402	D	0.000002	T	0.16085	0.0387	L	0.43152	1.355	0.58432	D	0.999999	D	0.76494	0.999	D	0.68192	0.956	T	0.00258	-1.1871	10	0.39692	T	0.17	-17.6658	19.354	0.94404	0.0:1.0:0.0:0.0	.	313	Q9NZV1	CRIM1_HUMAN	C	313;205	ENSP00000280527:S313C	ENSP00000280527:S313C	S	+	2	0	CRIM1	36545249	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.013000	0.70776	2.820000	0.97059	0.650000	0.86243	TCT		0.498	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		14	90	0	0	0	1	0	14	90					G	36691745	C	G	36691745	3	3	498	1	0	0	0	0	1	0	0	0	3873	913	32	5	956	5	CRIM1	2	36691745	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	12165061	36691745	206507628	14	32974											
C2orf3	6936	broad.mit.edu	37	chr2	75917824	75917824	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctactgagaagtttccaCttgtggatgtctcatctttg	8	16	8	9	0	3	1	1	1	3	1	5	3	4	2	1	1	1	1	1	1	2	4			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr2:75917824C>G	ENST00000321027.3	-	8	1299	c.1166G>C	c.(1165-1167)aGt>aCt	p.S389T	MRPL19_ENST00000358788.6_3'UTR|GCFC2_ENST00000541687.1_3'UTR|GCFC2_ENST00000409857.3_Missense_Mutation_p.S351T	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	389					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										GAAGTTTCCACTTGTGGATGT	0.289																																						ENST00000321027.3																			0											c.(1165-1167)aGt>aCt		GC-rich sequence DNA-binding factor 2							85	93	90					2																	75917824		2203	4296	6499	SO:0001583	missense	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75917824C>G	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"GC binding factor"	189901	"transcription factor 9 (binds GC-rich sequences)", "chromosome 2 open reading frame 3"	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.1166G>C	2.37:g.75917824C>G	ENSP00000318690:p.Ser389Thr					MRPL19_ENST00000358788.6_3'UTR|GCFC2_ENST00000409857.3_Missense_Mutation_p.S351T|GCFC2_ENST00000541687.1_3'UTR	p.S389T	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN			8	1299	-			389					A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	c.1166G>C	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	C	2.976	-0.211363	0.06140	.	.	ENSG00000005436	ENST00000321027;ENST00000409857	T;T	0.14640	2.49;2.49	4.62	1.9	0.25705	.	0.847094	0.10670	N	0.647635	T	0.06690	0.0171	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.44817	-0.9303	10	0.15499	T	0.54	-9.7323	4.5701	0.12205	0.0:0.1874:0.1645:0.6481	.	389	P16383	GCF_HUMAN	T	389;351	ENSP00000318690:S389T;ENSP00000386552:S351T	ENSP00000318690:S389T	S	-	2	0	C2orf3	75771332	1.000000	0.71417	0.124000	0.21820	0.008000	0.06430	0.830000	0.27462	0.302000	0.22762	-0.474000	0.04947	AGT		0.289	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		23	83	0	0	0	1	0	23	83					G	75917824	C	G	75917824	3	3	498	1	0	0	0	0	1	0	0	0	2162	565	20	5	1219	5	C2orf3	2	75917824	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	39226079	75917824	167281549	15	32975											
LRP1B	53353	broad.mit.edu	37	chr2	141291667	141291667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatgaggaatgcagcggCgattatagcatggcttgaag	11	9	14	7	2	0	2	0	2	0	0	0	4	0	3	1	3	4	3	1	3	4	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr2:141291667C>T	ENST00000389484.3	-	47	8656	c.7685G>A	c.(7684-7686)cGc>cAc	p.R2562H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2562	LDL-receptor class A 12. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			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)		AATGCAGCGGCGATTATAGCA	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(7684-7686)cGc>cAc		low density lipoprotein receptor-related protein 1B							82	79	80					2																	141291667		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141291667C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7685G>A	2.37:g.141291667C>T	ENSP00000374135:p.Arg2562His	TSP Lung(27;0.18)					p.R2562H	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		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)	47	8656	-		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)	2562			LDL-receptor class A 12.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7685G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132321	0.56828	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91295	-2.82	5.42	4.55	0.56014	.	0.074054	0.52532	U	0.000073	D	0.82440	0.5037	N	0.25144	0.715	0.33989	D	0.648854	B	0.16396	0.017	B	0.15484	0.013	T	0.81389	-0.0955	10	0.38643	T	0.18	.	9.0341	0.36277	0.0:0.7782:0.0:0.2218	.	2562	Q9NZR2	LRP1B_HUMAN	H	2562;2500	ENSP00000374135:R2562H	ENSP00000374135:R2562H	R	-	2	0	LRP1B	141008137	0.237000	0.23815	0.996000	0.52242	0.573000	0.36030	0.763000	0.26517	1.429000	0.47314	0.563000	0.77884	CGC		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		14	41	0	0	0	1	0	14	41					T	141291667	C	T	141291667	3	4	498	1	0	0	0	0	1	0	0	0	8955	768	27	1	6294	1	LRP1B	2	141291667	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	65373843	141291667	101907706	16	32976											
HOXD8	3234	broad.mit.edu	37	chr2	176995668	176995668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttccgtggatgagaccaCaaggttgggatgcatttttt	8	15	12	6	1	0	1	0	1	0	1	1	4	1	3	2	3	1	3	2	3	1	5			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr2:176995668C>A	ENST00000313173.4	+	1	1201	c.574C>A	c.(574-576)Caa>Aaa	p.Q192K	HOXD8_ENST00000544999.1_Missense_Mutation_p.Q192K|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Missense_Mutation_p.Q88K|HOXD8_ENST00000450510.2_Missense_Mutation_p.Q192K|HOXD8_ENST00000429017.1_Missense_Mutation_p.Q8K	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	192					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		GATGAGACCACAAGGTTGGGA	0.463																																						ENST00000313173.4																			0				central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(574-576)Caa>Aaa		homeobox D8							44	44	44					2																	176995668		2140	4070	6210	SO:0001583	missense	3234				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176995668C>A		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"Homeoboxes / ANTP class : HOXL subclass"	5139	protein-coding gene	gene with protein product		142985	"homeo box D8"	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.574C>A	2.37:g.176995668C>A	ENSP00000315949:p.Gln192Lys					HOXD8_ENST00000429017.1_Missense_Mutation_p.Q8K|HOXD8_ENST00000548663.1_Missense_Mutation_p.Q88K|HOXD8_ENST00000544999.1_Missense_Mutation_p.Q192K|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000450510.2_Missense_Mutation_p.Q192K	p.Q192K	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	1	1201	+			192					F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	ENST00000313173.4	37	c.574C>A	CCDS2268.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350026	0.61183	.	.	ENSG00000175879	ENST00000429017;ENST00000313173;ENST00000544999;ENST00000548663;ENST00000450510	D;T;T;D;T	0.95554	-3.74;1.03;1.03;-3.74;1.03	4.63	4.63	0.57726	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.56097	D	0.000031	D	0.94857	0.8338	L	0.48362	1.52	0.34933	D	0.749513	P;P	0.45715	0.79;0.865	B;P	0.49047	0.379;0.599	D	0.96355	0.9261	10	0.32370	T	0.25	.	17.8642	0.88791	0.0:1.0:0.0:0.0	.	192;192	Q8IXZ1;P13378	.;HXD8_HUMAN	K	8;192;192;88;192	ENSP00000406045:Q8K;ENSP00000315949:Q192K;ENSP00000437431:Q192K;ENSP00000448196:Q88K;ENSP00000409026:Q192K	ENSP00000315949:Q192K	Q	+	1	0	HOXD8	176703914	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.678000	0.84035	2.258000	0.74832	0.655000	0.94253	CAA		0.463	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1			13	41	1	0	9.31168e-06	1	1.13701e-05	13	41					A	176995668	C	A	176995668	3	1	498	1	0	0	0	0	1	0	0	0	7325	479	17	5	576	5	HOXD8	2	176995668	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	35704001	176995668	66203705	17	32977											
SCG2	7857	broad.mit.edu	37	chr2	224462648	224462648	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatatggattgggaaaataCgacgttttctgatttgctgc	10	16	10	5	2	1	1	0	1	1	0	1	4	1	3	0	2	3	2	0	2	5	7	rs143843249	byFrequency	TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr2:224462648C>T	ENST00000305409.2	-	2	1585	c.1353G>A	c.(1351-1353)tcG>tcA	p.S451S		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGGAAAATACGACGTTTTCT	0.488													C|||	2	0.000399361	0.0015	0	5008	,	,		19932	0		0	False		,,,				2504	0					ENST00000305409.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1351-1353)tcG>tcA		secretogranin II		C		4,4402	8.1+/-20.4	0,4,2199	106	107	107		1353	-2.9	0.5	2	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCG2	NM_003469.4		0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384		451/618	224462648	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	7857				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	g.chr2:224462648C>T	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1353G>A	2.37:g.224462648C>T							p.S451S	NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	1585	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	451					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	c.1353G>A	CCDS2457.1																																																																																				0.488	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		26	61	0	0	0	1	0	26	61					T	224462648	C	T	224462648	2	4	498	1	0	0	0	0	0	0	0	1	13891	523	19	1		1	SCG2	2	224462648	Silent	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	47466980	224462648	18736725	18	32978											
SP140	11262	broad.mit.edu	37	chr2	231112746	231112746	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaagaaaccaagacaaggaGaagtaccaagagagtccaga	22	2	10	7	0	0	5	0	0	0	5	1	7	1	5	3	1	2	1	3	1	8	1			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr2:231112746G>C	ENST00000392045.3	+	8	972	c.858G>C	c.(856-858)gaG>gaC	p.E286D	SP140_ENST00000486687.2_Intron|SP140_ENST00000343805.6_Missense_Mutation_p.E260D|SP140_ENST00000350136.5_Intron|SP140_ENST00000417495.3_Intron|SP140_ENST00000420434.3_Missense_Mutation_p.E286D	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	286					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAGACAAGGAGAAGTACCAAG	0.507																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(856-858)gaG>gaC		SP140 nuclear body protein							124	128	127					2																	231112746		1979	4146	6125	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231112746G>C	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.858G>C	2.37:g.231112746G>C	ENSP00000375899:p.Glu286Asp					SP140_ENST00000343805.6_Missense_Mutation_p.E260D|SP140_ENST00000350136.5_Intron|SP140_ENST00000417495.3_Intron|SP140_ENST00000486687.2_Intron|SP140_ENST00000420434.3_Missense_Mutation_p.E286D	p.E286D	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	8	972	+		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)	286					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.858G>C	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	4.984	0.182779	0.09495	.	.	ENSG00000079263	ENST00000392044;ENST00000392045;ENST00000343805;ENST00000420434	T;T;T	0.64085	0.57;-0.08;0.45	1.73	-0.203	0.13204	.	.	.	.	.	T	0.51193	0.1660	N	0.14661	0.345	0.09310	N	0.999999	B;D;B;D	0.57899	0.024;0.981;0.37;0.968	B;P;B;P	0.55391	0.014;0.775;0.145;0.521	T	0.44329	-0.9335	9	0.28530	T	0.3	.	6.5158	0.22246	0.3134:0.0:0.6866:0.0	.	286;260;286;286	E7EUR5;E9PFJ6;Q13342;E7EX75	.;.;LY10_HUMAN;.	D	286;286;260;286	ENSP00000375899:E286D;ENSP00000342096:E260D;ENSP00000398210:E286D	ENSP00000342096:E260D	E	+	3	2	SP140	230820990	0.002000	0.14202	0.001000	0.08648	0.016000	0.09150	-0.403000	0.07214	-0.428000	0.07339	-1.786000	0.00637	GAG		0.507	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		4	29	0	0	0	1	0	4	29					C	231112746	G	C	231112746	3	2	498	1	0	0	0	0	1	0	0	0	14962	933	33	5	1005	5	SP140	2	231112746	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	6650098	231112746	12086627	19	32979											
NEU2	4759	broad.mit.edu	37	chr2	233899168	233899168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcccgcctacgcctacCggaaacttcaccccatccaa	9	7	7	18	3	1	0	1	0	0	0	2	1	2	1	7	2	4	0	7	2	4	3	rs144556397		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr2:233899168C>T	ENST00000233840.3	+	2	544	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	182			R -> Q (in dbSNP:rs2233393).		ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			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)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CTACGCCTACCGGAAACTTCA	0.657													C|||	1	0.000199681	8e-04	0	5008	,	,		17112	0		0	False		,,,				2504	0					ENST00000233840.3																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(544-546)Cgg>Tgg		sialidase 2 (cytosolic sialidase)							67	70	69					2																	233899168		2203	4300	6503	SO:0001583	missense	4759						exo-alpha-sialidase activity	g.chr2:233899168C>T	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.544C>T	2.37:g.233899168C>T	ENSP00000233840:p.Arg182Trp						p.R182W	NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		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)	2	544	+		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)	182		R -> Q (in dbSNP:rs2233393).			Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.544C>T	CCDS2501.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.18	1.561950	0.27915	.	.	ENSG00000115488	ENST00000233840	D	0.88201	-2.35	4.88	2.87	0.33458	Neuraminidase (2);	0.372474	0.23032	N	0.052734	D	0.87434	0.6176	M	0.83483	2.645	0.40573	D	0.98132	P	0.50528	0.936	B	0.40636	0.335	D	0.85804	0.1375	10	0.45353	T	0.12	-26.6129	8.326	0.32158	0.1498:0.7636:0.0:0.0866	.	182	Q9Y3R4	NEUR2_HUMAN	W	182	ENSP00000233840:R182W	ENSP00000233840:R182W	R	+	1	2	NEU2	233607412	0.124000	0.22315	0.945000	0.38365	0.053000	0.15095	0.250000	0.18235	0.931000	0.37242	0.561000	0.74099	CGG		0.657	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		6	21	0	0	0	1	0	6	21					T	233899168	C	T	233899168	3	4	498	1	0	0	0	0	1	0	0	0	10342	643	23	2	550	2	NEU2	2	233899168	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	2786422	233899168	9300205	20	32980											
SETD2	29072	broad.mit.edu	37	chr3	47084145	47084146	+	Frame_Shift_Ins	INS	-	-	G																															gtttttggtttgggaggagaINSggggggcggcagatccaaga																										TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr3:47084145_47084146insG	ENST00000409792.3	-	17	7185_7186	c.7143_7144insC	c.(7141-7146)ccctctfs	p.S2382fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2382					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.P2380fs(2)|p.P1877fs(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTGGGAGGAGAGGGGGGCGGCA	0.426			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		4	Complex(4)	p.P2380fs(2)|p.P1877fs(2)	central_nervous_system(4)	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						c.(7141-7146)ccctccfs		SET domain containing 2																																				SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47084145_47084146insG	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7144dupC	3.37:g.47084151_47084151dupG	ENSP00000386759:p.Ser2382fs						p.S2382fs	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	17	7185_7186	-		Acute lymphoblastic leukemia(5;0.0169)	2382					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Ins	INS	ENST00000409792.3	37	c.7143_7144insC	CCDS2749.2																																																																																				0.426	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		16	61						16	61	---	---	---	---	G	47084146	-	G	47084145	7	5	498	1	0	1	1	0	0	0	0	0	14131	304	11	0	570	0	SETD2	3	47084145	Frame_Shift_Ins	INS	-	TCGA-ZG-A9NI-01A-11D-A41K-08		47084145	150938285	21	32981											
GNAI2	2771	broad.mit.edu	37	chr3	50290538	50290538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacctgtccggcgtcatccGgaggctctgggctgaccatg	5	9	14	13	3	2	2	1	2	1	0	4	3	4	3	4	4	0	2	4	4	0	0			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr3:50290538G>A	ENST00000313601.6	+	4	770	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	GNAI2_ENST00000536647.1_Missense_Mutation_p.R48Q|GNAI2_ENST00000440628.1_Missense_Mutation_p.R77Q|GNAI2_ENST00000451956.1_Missense_Mutation_p.R92Q|GNAI2_ENST00000266027.5_Missense_Mutation_p.R113Q|GNAI2_ENST00000422163.1_Missense_Mutation_p.R113Q|GNAI2_ENST00000491100.1_3'UTR	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	129					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GGCGTCATCCGGAGGCTCTGG	0.642																																						ENST00000313601.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16						c.(385-387)cGg>cAg		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2							164	151	156					3																	50290538		2203	4300	6503	SO:0001583	missense	2771				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	g.chr3:50290538G>A	X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"GTP-binding regulatory protein Gi alpha-2 chain"	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.386G>A	3.37:g.50290538G>A	ENSP00000312999:p.Arg129Gln					GNAI2_ENST00000536647.1_Missense_Mutation_p.R48Q|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Missense_Mutation_p.R77Q|GNAI2_ENST00000266027.5_Missense_Mutation_p.R113Q|GNAI2_ENST00000422163.1_Missense_Mutation_p.R113Q|GNAI2_ENST00000451956.1_Missense_Mutation_p.R92Q	p.R129Q	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)	4	770	+			129					B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	ENST00000313601.6	37	c.386G>A	CCDS2813.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489981	0.64074	.	.	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.21	4.25	0.50352	G protein alpha subunit, helical insertion (2);	0.249150	0.41194	D	0.000923	T	0.78929	0.4361	N	0.12853	0.265	0.51233	D	0.999916	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.12156	0.004;0.003;0.007;0.004	T	0.74115	-0.3769	10	0.42905	T	0.14	.	12.7043	0.57051	0.0:0.0:0.8347:0.1653	.	92;129;113;113	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	Q	113;129;48;129;77;92;113	ENSP00000406871:R113Q;ENSP00000312999:R129Q;ENSP00000444360:R48Q;ENSP00000395736:R77Q;ENSP00000406369:R92Q;ENSP00000266027:R113Q	ENSP00000266027:R113Q	R	+	2	0	GNAI2	50265542	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.251000	0.43187	2.815000	0.96918	0.561000	0.74099	CGG		0.642	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		57	127	0	0	0	1	0	57	127					A	50290538	G	A	50290538	3	1	498	1	0	0	0	0	1	0	0	0	6505	1116	39	2	411	2	GNAI2	3	50290538	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	3206393	50290538	147731892	22	32982											
GLYCTK	132158	broad.mit.edu	37	chr3	52326966	52326966	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgctggggcctgggtcAcacctgagcttgccagccag	6	7	15	13	0	1	1	1	1	0	0	1	1	1	1	4	4	4	3	4	4	0	1			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr3:52326966A>T	ENST00000436784.2	+	5	1456	c.1396A>T	c.(1396-1398)Aca>Tca	p.T466S	GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000461183.1_Intron|MIR135A1_ENST00000385191.1_RNA|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000471180.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000354773.4_3'UTR|GLYCTK_ENST00000477382.1_3'UTR			Q8IVS8	GLCTK_HUMAN	glycerate kinase	466					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GGCCTGGGTCACACCTGAGCT	0.617																																						ENST00000436784.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(1396-1398)Aca>Tca		glycerate kinase							78	70	72					3																	52326966		2203	4300	6503	SO:0001583	missense	132158				protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	g.chr3:52326966A>T		CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.1396A>T	3.37:g.52326966A>T	ENSP00000389175:p.Thr466Ser					GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000461183.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_3'UTR|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000354773.4_3'UTR	p.T466S			Q8IVS8	GLCTK_HUMAN		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)	5	1456	+			466					Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	ENST00000436784.2	37	c.1396A>T	CCDS2852.1	.	.	.	.	.	.	.	.	.	.	A	6.655	0.489383	0.12641	.	.	ENSG00000168237	ENST00000436784;ENST00000411757	T	0.53857	0.6	5.74	2.01	0.26516	MOFRL domain (2);	0.743246	0.13661	N	0.371594	T	0.30947	0.0781	N	0.21194	0.64	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.17653	-1.0362	9	.	.	.	-1.2433	2.3932	0.04383	0.6124:0.1295:0.1342:0.1239	.	466	Q8IVS8	GLCTK_HUMAN	S	466;400	ENSP00000389175:T466S	.	T	+	1	0	GLYCTK	52302006	0.799000	0.28903	0.004000	0.12327	0.979000	0.70002	3.478000	0.53158	0.107000	0.17824	0.533000	0.62120	ACA		0.617	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1	NM_145262		11	22	0	0	0	1	0	11	22					T	52326966	A	T	52326966	3	4	498	1	0	0	0	0	1	0	0	0	6482	159	6	5	1410	5	GLYCTK	3	52326966	Missense_Mutation	SNP	A	TCGA-ZG-A9NI-01A-11D-A41K-08	2036428	52326966	145695464	23	32983											
CNTN3	5067	broad.mit.edu	37	chr3	74315728	74315728	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagtcctctttaatgggcaGcacaagttcagctgaagttt	10	13	10	8	0	2	1	1	1	1	0	3	1	3	1	1	1	2	6	1	1	4	5			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr3:74315728G>A	ENST00000263665.6	-	21	2917	c.2890C>T	c.(2890-2892)Ctg>Ttg	p.L964L	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	964	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.L964M(1)		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)		TTAATGGGCAGCACAAGTTCA	0.393																																						ENST00000263665.6																			1	Substitution - Missense(1)	p.L964M(1)	lung(1)	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						c.(2890-2892)Ctg>Ttg		contactin 3 (plasmacytoma associated)							263	239	247					3																	74315728		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74315728G>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2890C>T	3.37:g.74315728G>A						CNTN3_ENST00000477856.1_5'UTR	p.L964L	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	21	2917	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	964			Fibronectin type-III 4.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.2890C>T	CCDS33790.1																																																																																				0.393	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		4	140	0	0	0	1	0	4	140					A	74315728	G	A	74315728	2	1	498	1	0	0	0	0	0	0	0	1	3642	962	34	3		3	CNTN3	3	74315728	Silent	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	21988762	74315728	123706702	24	32984											
CCDC48	79825	broad.mit.edu	37	chr3	128755841	128755841	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagagttgcagcagaaggtgGaagagaatgagcacctgagg	14	5	16	6	0	0	5	0	2	0	3	0	7	0	6	1	3	3	4	1	3	3	1			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr3:128755841G>C	ENST00000480450.1	+	6	1471	c.1471G>C	c.(1471-1473)Gaa>Caa	p.E491Q	EFCC1_ENST00000436022.2_Missense_Mutation_p.E54Q			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	491							calcium ion binding (GO:0005509)										GCAGAAGGTGGAAGAGAATGA	0.597																																						ENST00000436022.2																			0											c.(160-162)Gaa>Caa		EF-hand and coiled-coil domain containing 1							67	69	68					3																	128755841		2203	4300	6503	SO:0001583	missense	79825							g.chr3:128755841G>C	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"EF-hand domain containing"	25692	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 73", "coiled-coil domain containing 48"	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1471G>C	3.37:g.128755841G>C	ENSP00000420075:p.Glu491Gln					EFCC1_ENST00000480450.1_Missense_Mutation_p.E491Q	p.E54Q	NM_024768.2	NP_079044.2					6	1471	+								A8MYE2	Missense_Mutation	SNP	ENST00000480450.1	37	c.160G>C	CCDS3054.2	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703754	0.48412	.	.	ENSG00000114654	ENST00000480450;ENST00000436022	T;T	0.52754	0.65;0.67	4.19	4.19	0.49359	.	0.074861	0.49305	D	0.000143	T	0.49064	0.1535	L	0.47190	1.495	0.46849	D	0.999228	P	0.47677	0.899	P	0.48227	0.571	T	0.53129	-0.8482	10	0.54805	T	0.06	.	14.0679	0.64841	0.0:0.0:1.0:0.0	.	491	Q9HA90	CCD48_HUMAN	Q	491;54	ENSP00000420075:E491Q;ENSP00000414597:E54Q	ENSP00000414597:E54Q	E	+	1	0	CCDC48	130238531	1.000000	0.71417	0.112000	0.21494	0.680000	0.39746	3.975000	0.56859	2.126000	0.65437	0.467000	0.42956	GAA		0.597	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1	NM_024768		6	51	0	0	0	1	0	6	51					C	128755841	G	C	128755841	3	2	498	1	0	0	0	0	1	0	0	0	2819	1175	41	5	1493	5	CCDC48	3	128755841	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	54440113	128755841	69266589	25	32985											
FAT4	79633	broad.mit.edu	37	chr4	126370935	126370935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatatttcaggattaatGccaccactggagagattttc	13	12	8	8	0	1	2	1	0	0	2	2	5	1	4	2	2	1	0	2	2	3	5	rs553689367		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr4:126370935G>T	ENST00000394329.3	+	9	8777	c.8764G>T	c.(8764-8766)Gcc>Tcc	p.A2922S	FAT4_ENST00000335110.5_Missense_Mutation_p.A1220S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2922	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						CAGGATTAATGCCACCACTGG	0.348																																						ENST00000394329.3																			0				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						c.(8764-8766)Gcc>Tcc		FAT atypical cadherin 4							58	62	61					4																	126370935		2203	4297	6500	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126370935G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8764G>T	4.37:g.126370935G>T	ENSP00000377862:p.Ala2922Ser					FAT4_ENST00000335110.5_Missense_Mutation_p.A1220S	p.A2922S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	8777	+			2922			Cadherin 28.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.8764G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151742	0.57151	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01767	4.65;4.65	5.34	5.34	0.76211	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004256	T	0.01592	0.0051	N	0.04335	-0.225	0.48901	D	0.999723	B;D;P	0.54047	0.141;0.964;0.955	B;P;P	0.49276	0.041;0.605;0.6	T	0.74691	-0.3580	10	0.10111	T	0.7	.	14.2825	0.66221	0.0:0.0:0.8513:0.1487	.	1220;2922;2922	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	S	2922;1220	ENSP00000377862:A2922S;ENSP00000335169:A1220S	ENSP00000335169:A1220S	A	+	1	0	FAT4	126590385	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.937000	0.63513	2.664000	0.90586	0.655000	0.94253	GCC		0.348	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		27	54	1	0	1.77063e-15	1	2.25707e-15	27	54					T	126370935	G	T	126370935	3	4	498	1	0	0	0	0	1	0	0	0	5692	1319	46	5	8798	5	FAT4	4	126370935	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08		126370935	64783341	26	32986											
NR3C2	4306	broad.mit.edu	37	chr4	149181195	149181195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaccccataatggcatcctGaagcctcatccccacacacc	11	7	4	19	0	1	1	1	1	0	0	3	1	3	1	7	1	2	1	7	1	3	2			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr4:149181195G>A	ENST00000358102.3	-	3	2194	c.1832C>T	c.(1831-1833)tCa>tTa	p.S611L	NR3C2_ENST00000355292.3_Missense_Mutation_p.S611L|NR3C2_ENST00000344721.4_Missense_Mutation_p.S611L|NR3C2_ENST00000512865.1_Missense_Mutation_p.S611L|NR3C2_ENST00000511528.1_Missense_Mutation_p.S611L	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	611					gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ATGGCATCCTGAAGCCTCATC	0.403																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1831-1833)tCa>tTa		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						139	130	133					4																	149181195		2203	4300	6503	SO:0001583	missense	0				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	g.chr4:149181195G>A	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1832C>T	4.37:g.149181195G>A	ENSP00000350815:p.Ser611Leu					NR3C2_ENST00000342437.4_Missense_Mutation_p.S611L|NR3C2_ENST00000358102.3_Missense_Mutation_p.S611L|NR3C2_ENST00000344721.4_Missense_Mutation_p.S611L|NR3C2_ENST00000511528.1_Missense_Mutation_p.S611L|NR3C2_ENST00000512865.1_Missense_Mutation_p.S611L	p.S611L			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	3	2194	-	all_hematologic(180;0.151)		611					B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.1832C>T	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834677	0.91036	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.98044	-4.68;-4.68;-4.68;-4.68;-4.68;-4.68	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.98595	0.9530	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98521	1.0623	9	.	.	.	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	611;611	B0ZBF5;B0ZBF6	.;.	L	611	ENSP00000341390:S611L;ENSP00000347441:S611L;ENSP00000350815:S611L;ENSP00000423510:S611L;ENSP00000343907:S611L;ENSP00000421481:S611L	.	S	-	2	0	NR3C2	149400645	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.869000	0.99810	2.838000	0.97847	0.591000	0.81541	TCA		0.403	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			13	78	0	0	0	1	0	13	78					A	149181195	G	A	149181195	3	1	498	1	0	0	0	0	1	0	0	0	10631	1294	45	3	1150	3	NR3C2	4	149181195	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	22810260	149181195	41973081	27	32987											
TLR2	7097	broad.mit.edu	37	chr4	154625865	154625865	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgtgctctgttcctgctgatCctgctcacgggggtcctgtg	2	14	13	12	1	2	1	1	1	1	0	5	1	5	1	3	2	3	4	3	2	0	1			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr4:154625865C>G	ENST00000260010.6	+	1	3214	c.1806C>G	c.(1804-1806)atC>atG	p.I602M		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	602					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TCCTGCTGATCCTGCTCACGG	0.582																																						ENST00000260010.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(1804-1806)atC>atG		toll-like receptor 2							89	66	74					4																	154625865		2203	4300	6503	SO:0001583	missense	7097				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	g.chr4:154625865C>G	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1806C>G	4.37:g.154625865C>G	ENSP00000260010:p.Ile602Met						p.I602M	NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN			1	3214	+	all_hematologic(180;0.093)	Renal(120;0.117)	602					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.1806C>G	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	C	4.528	0.097966	0.08681	.	.	ENSG00000137462	ENST00000260010	T	0.34859	1.34	5.33	2.38	0.29361	.	0.960889	0.08654	N	0.913587	T	0.41834	0.1176	M	0.78456	2.415	0.09310	N	1	B	0.26258	0.145	B	0.25405	0.06	T	0.41484	-0.9506	10	0.72032	D	0.01	.	9.8489	0.41043	0.1417:0.5498:0.3086:0.0	.	602	O60603	TLR2_HUMAN	M	602	ENSP00000260010:I602M	ENSP00000260010:I602M	I	+	3	3	TLR2	154845315	0.000000	0.05858	0.392000	0.26245	0.273000	0.26683	0.088000	0.14979	0.575000	0.29434	0.655000	0.94253	ATC		0.582	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			4	37	0	0	0	1	0	4	37					G	154625865	C	G	154625865	3	3	498	1	0	0	0	0	1	0	0	0	15948	845	30	5	1808	5	TLR2	4	154625865	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	5444670	154625865	36528411	28	32988											
COL4A3BP	10087	broad.mit.edu	37	chr5	74685512	74685512	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttctgcaccatctcttcaaCcttgagaagggaggaaaaag	13	9	10	9	0	3	1	1	1	2	1	4	4	3	3	2	2	2	2	2	2	4	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr5:74685512C>G	ENST00000405807.4	-	12	1610	c.1189G>C	c.(1189-1191)Gtt>Ctt	p.V397L	COL4A3BP_ENST00000380494.5_Splice_Site_p.V525L|COL4A3BP_ENST00000261415.7_Splice_Site_p.V371L	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	397	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			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)		ATCTCTTCAACCTTGAGAAGG	0.408																																						ENST00000380494.5																			0				breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16						c.e13-1		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							107	95	99					5																	74685512		2203	4300	6503	SO:0001630	splice_region_variant	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74685512C>G	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"StAR-related lipid transfer (START) domain containing", "Pleckstrin homology (PH) domain containing"	2205	protein-coding gene	gene with protein product	"ceramide transporter", "StAR-related lipid transfer (START) domain containing 11"	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1189-1G>C	5.37:g.74685512C>G						COL4A3BP_ENST00000261415.7_Splice_Site_p.V371_splice|COL4A3BP_ENST00000405807.4_Splice_Site_p.V397_splice	p.V525_splice	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	13	1866	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	397			START.		A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Splice_Site	SNP	ENST00000405807.4	37	c.1572_splice	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837967	0.71373	.	.	ENSG00000113163	ENST00000357457;ENST00000405807;ENST00000380494;ENST00000261415	D;D;D	0.83163	-1.69;-1.69;-1.69	5.14	4.28	0.50868	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.65811	0.2727	N	0.14661	0.345	0.54753	D	0.999986	B;P;B	0.35944	0.132;0.529;0.208	B;B;B	0.28385	0.024;0.089;0.039	T	0.63812	-0.6552	10	0.15066	T	0.55	-3.1345	13.9066	0.63839	0.0:0.926:0.0:0.074	.	397;525;371	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	L	2;397;525;371	ENSP00000383996:V397L;ENSP00000369862:V525L;ENSP00000261415:V371L	ENSP00000261415:V371L	V	-	1	0	COL4A3BP	74721268	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.671000	0.83941	1.310000	0.45006	0.563000	0.77884	GTT		0.408	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713	Missense_Mutation	11	16	0	0	0	1	0	11	16					G	74685512	C	G	74685512	5	3	498	1	0	0	0	0	0	0	1	0	3692	521	18	5	709	5	COL4A3BP	5	74685512	Splice_Site	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08		74685512	106229748	29	32989											
CEP120	153241	broad.mit.edu	37	chr5	122717825	122717825	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttttctttactagtgattCtctttctcggtcccttttct	3	23	4	11	1	4	1	0	1	4	0	7	1	5	1	1	1	1	0	1	1	2	9			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr5:122717825C>G	ENST00000306467.5	-	14	2387	c.2083G>C	c.(2083-2085)Gaa>Caa	p.E695Q	CEP120_ENST00000306481.6_Missense_Mutation_p.E669Q|CEP120_ENST00000328236.5_Missense_Mutation_p.E695Q			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	695					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				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						ACTAGTGATTCTCTTTCTCGG	0.363																																						ENST00000306467.5																			0				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						c.(2083-2085)Gaa>Caa		centrosomal protein 120kDa							134	131	132					5																	122717825		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122717825C>G	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2083G>C	5.37:g.122717825C>G	ENSP00000303058:p.Glu695Gln					CEP120_ENST00000306481.6_Missense_Mutation_p.E669Q|CEP120_ENST00000328236.5_Missense_Mutation_p.E695Q	p.E695Q			Q8N960	CE120_HUMAN			14	2387	-			695					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.2083G>C	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954521	0.92726	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.69672	0.3137	M	0.79693	2.465	0.80722	D	1	D	0.67145	0.996	D	0.66497	0.944	T	0.71258	-0.4646	10	0.44086	T	0.13	-22.2727	18.4683	0.90763	0.0:1.0:0.0:0.0	.	695	Q8N960	CE120_HUMAN	Q	695;695;669;669	ENSP00000303058:E695Q;ENSP00000327504:E695Q;ENSP00000307419:E669Q;ENSP00000421620:E669Q	ENSP00000303058:E695Q	E	-	1	0	CEP120	122745724	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.124000	0.77185	2.535000	0.85469	0.585000	0.79938	GAA		0.363	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		18	79	0	0	0	1	0	18	79					G	122717825	C	G	122717825	3	3	498	1	0	0	0	0	1	0	0	0	3246	922	32	5	905	5	CEP120	5	122717825	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	48032313	122717825	58197435	30	32990											
IL9	3578	broad.mit.edu	37	chr5	135231281	135231281	+	Splice_Site	DEL	T	T	-																															acttggaagctggatcttccTaaagtagatagagagataag																								rs370719672		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr5:135231281delT	ENST00000274520.1	-	2	125		c.e2-2		GS1-39E22.2_ENST00000522973.1_RNA	NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9						immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)				large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGATCTTCCTAAAGTAGATA	0.403																																						ENST00000274520.1																			0				large_intestine(3)|lung(2)|pancreas(1)	6						c.e2-2		interleukin 9							71	78	75					5																	135231281		2203	4300	6503	SO:0001630	splice_region_variant	3578				immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity	g.chr5:135231281delT	S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"Interleukins and interleukin receptors"	6029	protein-coding gene	gene with protein product	"p40 T-cell and mast cell growth factor", "T-cell growth factor p40", "p40 cytokine", "homolog of mouse T cell and mast cell growth factor 40"	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.115-2A>-	5.37:g.135231281delT								NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	125	-									Splice_Site	DEL	ENST00000274520.1	37		CCDS4189.1																																																																																				0.403	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	NM_000590	Intron	12	119						12	119	---	---	---	---	-	135231281	T	-	135231281	8	5	498	1	0	1	0	1	0	0	1	0	7707	1536	53	0	337	0	IL9	5	135231281	Splice_Site	DEL	T	TCGA-ZG-A9NI-01A-11D-A41K-08	12513456	135231281	45683979	31	32991											
PLA2G7	7941	broad.mit.edu	37	chr6	46678365	46678365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagaatcagactgagagCttgggaacattcttttgctc	11	12	10	8	0	3	3	2	1	1	3	4	5	3	4	0	1	3	2	0	1	3	4			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr6:46678365C>T	ENST00000274793.7	-	8	890	c.694G>A	c.(694-696)Gct>Act	p.A232T	PLA2G7_ENST00000537365.1_Missense_Mutation_p.A232T|PLA2G7_ENST00000541026.1_Missense_Mutation_p.A105T|PLA2G7_ENST00000538237.1_Missense_Mutation_p.A187T	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	232					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AGACTGAGAGCTTGGGAACAT	0.313																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(694-696)Gct>Act		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							108	106	107					6																	46678365		2203	4299	6502	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46678365C>T	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.694G>A	6.37:g.46678365C>T	ENSP00000274793:p.Ala232Thr					PLA2G7_ENST00000541026.1_Missense_Mutation_p.A105T|PLA2G7_ENST00000537365.1_Missense_Mutation_p.A232T|PLA2G7_ENST00000538237.1_Missense_Mutation_p.A187T	p.A232T	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	Lung(136;0.192)		8	890	-			232					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.694G>A	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393470	0.96009	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	M	0.68593	2.085	0.80722	D	1	D;P;D;D	0.89917	1.0;0.953;1.0;1.0	D;P;D;D	0.97110	1.0;0.649;1.0;1.0	T	0.62576	-0.6825	10	0.29301	T	0.29	.	20.1672	0.98154	0.0:1.0:0.0:0.0	.	105;187;232;232	B4DLM5;F5GYY6;A8K2W6;Q13093	.;.;.;PAFA_HUMAN	T	232;232;187;105	ENSP00000274793:A232T;ENSP00000445666:A232T;ENSP00000441416:A187T;ENSP00000444164:A105T	ENSP00000274793:A232T	A	-	1	0	PLA2G7	46786324	1.000000	0.71417	0.969000	0.41365	0.862000	0.49288	7.034000	0.76511	2.861000	0.98227	0.655000	0.94253	GCT		0.313	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			16	39	0	0	0	1	0	16	39					T	46678365	C	T	46678365	3	4	498	1	0	0	0	0	1	0	0	0	12009	797	28	3	651	3	PLA2G7	6	46678365	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08		46678365	124436702	32	32992											
MUT	4594	broad.mit.edu	37	chr6	49425723	49425723	+	Missense_Mutation	SNP	C	C	A																															gagggttgtctgaatcatagCcacgatgtgtcgccagatca																										TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr6:49425723C>A	ENST00000274813.3	-	3	561	c.434G>T	c.(433-435)gGc>gTc	p.G145V		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	145			G -> S (in MMAM; mut0). {ECO:0000269|PubMed:16281286}.		cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			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)	TGAATCATAGCCACGATGTGT	0.403																																						ENST00000274813.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30						c.(433-435)gGc>gTc		methylmalonyl CoA mutase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						68	69	69					6																	49425723		2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49425723C>A		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.434G>T	6.37:g.49425723C>A	ENSP00000274813:p.Gly145Val						p.G145V	NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN			3	561	-	Lung NSC(77;0.0376)		145		G -> S (in MMAM; mut0).			A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.434G>T	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605891	0.87157	.	.	ENSG00000146085	ENST00000274813	D	0.99494	-6.01	5.55	5.55	0.83447	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96634	0.9469	10	0.87932	D	0	-13.2808	18.8429	0.92192	0.0:1.0:0.0:0.0	.	145	P22033	MUTA_HUMAN	V	145	ENSP00000274813:G145V	ENSP00000274813:G145V	G	-	2	0	MUT	49533682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.398000	0.79919	2.769000	0.95229	0.491000	0.48974	GGC		0.403	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			21	48	1	0	3.28513e-13	1	4.09758e-13	21	48					A	49425723	C	A	49425723	3	1	498	1	0	0	0	0	1	0	0	0	9991	739	26	5	1862	5	MUT	6	49425723	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	2747358	49425723	121689344	33	32993	161	2									
MUT	4594	broad.mit.edu	37	chr6	49425724	49425724	+	Missense_Mutation	SNP	C	C	A																															agggttgtctgaatcatagcCacgatgtgtcgccagatcaa																										TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr6:49425724C>A	ENST00000274813.3	-	3	560	c.433G>T	c.(433-435)Ggc>Tgc	p.G145C		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	145			G -> S (in MMAM; mut0). {ECO:0000269|PubMed:16281286}.		cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			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)	GAATCATAGCCACGATGTGTC	0.403																																						ENST00000274813.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	GRCh37	CM060381	MUT	M		c.(433-435)Ggc>Tgc		methylmalonyl CoA mutase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						68	69	68					6																	49425724		2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49425724C>A		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.433G>T	6.37:g.49425724C>A	ENSP00000274813:p.Gly145Cys						p.G145C	NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN			3	560	-	Lung NSC(77;0.0376)		145		G -> S (in MMAM; mut0).			A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.433G>T	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630421	0.87660	.	.	ENSG00000146085	ENST00000274813	D	0.99494	-6.01	5.55	5.55	0.83447	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96634	0.9469	10	0.87932	D	0	-13.2808	18.8429	0.92192	0.0:1.0:0.0:0.0	.	145	P22033	MUTA_HUMAN	C	145	ENSP00000274813:G145C	ENSP00000274813:G145C	G	-	1	0	MUT	49533683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.398000	0.79919	2.769000	0.95229	0.491000	0.48974	GGC		0.403	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			21	47	1	0	1.64293e-13	1	2.07152e-13	21	47					A	49425724	C	A	49425724	3	1	498	1	0	0	0	0	1	0	0	0	9991	594	21	5	1863	5	MUT	6	49425724	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	1	49425724	121689343	34	32994	161	2									
RARS2	57038	broad.mit.edu	37	chr6	88240657	88240657	+	Frame_Shift_Del	DEL	A	A	-																															ttctttattaacttgtacatAaacctaaaagtacaatagta																										TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr6:88240657delA	ENST00000369536.5	-	9	661	c.616delT	c.(616-618)tatfs	p.Y206fs		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	206					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			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)		ACTTGTACATAAACCTAAAAG	0.363																																						ENST00000369536.5																			0				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						c.(616-618)atfs		arginyl-tRNA synthetase 2, mitochondrial							111	109	110					6																	88240657		2203	4300	6503	SO:0001589	frameshift_variant	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88240657delA	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.616delT	6.37:g.88240657delA	ENSP00000358549:p.Tyr206fs						p.Y206fs	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	9	661	-		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)	206					B2RDT7|Q96FU5|Q9H8K8	Frame_Shift_Del	DEL	ENST00000369536.5	37	c.616delT	CCDS5011.1																																																																																				0.363	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		15	27						15	27	---	---	---	---	-	88240657	A	-	88240657	7	5	498	1	0	1	0	1	0	0	0	0	13059	362	13	0	1168	0	RARS2	6	88240657	Frame_Shift_Del	DEL	A	TCGA-ZG-A9NI-01A-11D-A41K-08	38814933	88240657	82874410	35	32995											
LAMA2	3908	broad.mit.edu	37	chr6	129636711	129636711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcattgtttttcaacatccaGagattgttgcccacatggac	10	13	8	10	0	1	1	1	0	0	1	2	3	2	2	2	1	2	3	2	1	1	5			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr6:129636711G>C	ENST00000421865.2	+	25	3695	c.3646G>C	c.(3646-3648)Gag>Cag	p.E1216Q		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1216	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			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)		TCAACATCCAGAGATTGTTGC	0.473																																						ENST00000421865.2																			0				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						c.(3646-3648)Gag>Cag		laminin, alpha 2							142	130	134					6																	129636711		2203	4300	6503	SO:0001583	missense	3908				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	g.chr6:129636711G>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3646G>C	6.37:g.129636711G>C	ENSP00000400365:p.Glu1216Gln						p.E1216Q	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	25	3695	+			1216			Laminin IV type A 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3646G>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097819	0.56075	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.34275	1.37	5.76	5.76	0.90799	Laminin B type IV (1);	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.99;0.994	T	0.31668	-0.9935	10	0.36615	T	0.2	.	20.3316	0.98722	0.0:0.0:1.0:0.0	.	1216;1216	A6NF00;P24043	.;LAMA2_HUMAN	Q	1216	ENSP00000400365:E1216Q	ENSP00000346769:E1216Q	E	+	1	0	LAMA2	129678404	1.000000	0.71417	0.900000	0.35374	0.003000	0.03518	9.405000	0.97313	2.871000	0.98454	0.655000	0.94253	GAG		0.473	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			3	73	0	0	0	1	0	3	73					C	129636711	G	C	129636711	3	2	498	1	0	0	0	0	1	0	0	0	8606	943	33	5	3744	5	LAMA2	6	129636711	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	41396054	129636711	41478356	36	32996											
TBX20	57057	broad.mit.edu	37	chr7	35293132	35293132	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgattgtgttctccgtcgCctccttctccttagagccgc	3	16	8	14	3	2	2	0	1	2	1	6	2	3	2	5	0	1	1	5	0	1	5			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr7:35293132C>A	ENST00000408931.3	-	1	626	c.100G>T	c.(100-102)Gcg>Tcg	p.A34S		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	34					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TTCTCCGTCGCCTCCTTCTCC	0.647																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(100-102)Gcg>Tcg		T-box 20							51	47	48					7																	35293132		2202	4300	6502	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35293132C>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.100G>T	7.37:g.35293132C>A	ENSP00000386170:p.Ala34Ser						p.A34S	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			1	626	-			34					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.100G>T	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	C	5.157	0.214485	0.09810	.	.	ENSG00000164532	ENST00000408931	D	0.87334	-2.24	5.35	2.38	0.29361	.	0.505372	0.22454	N	0.059858	T	0.61912	0.2385	N	0.01874	-0.695	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.52442	-0.8575	10	0.09084	T	0.74	.	5.6487	0.17604	0.1158:0.4731:0.3302:0.081	.	34	Q9UMR3	TBX20_HUMAN	S	34	ENSP00000386170:A34S	ENSP00000386170:A34S	A	-	1	0	TBX20	35259657	0.019000	0.18553	0.561000	0.28357	0.952000	0.60782	-0.000000	0.12993	1.211000	0.43351	0.462000	0.41574	GCG		0.647	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		4	30	1	0	0.00909568	1	0.0095054	4	30					A	35293132	C	A	35293132	3	1	498	1	0	0	0	0	1	0	0	0	15653	739	26	5	1276	5	TBX20	7	35293132	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08		35293132	123845531	37	32997											
C7orf11	136647	broad.mit.edu	37	chr7	40174134	40174134	+	Frame_Shift_Del	DEL	A	A	-																															ccacccggaccagggtaaggAggagttgggggccgaaaatt																										TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr7:40174134delA	ENST00000306984.6	-	1	124	c.33delT	c.(31-33)cctfs	p.P12fs	C7orf10_ENST00000335693.4_5'Flank|C7orf10_ENST00000309930.5_5'Flank|C7orf10_ENST00000540834.1_5'Flank|C7orf10_ENST00000401647.2_5'Flank	NM_138701.3	NP_619646.1	Q8TAP9	MPLKI_HUMAN	M-phase specific PLK1 interacting protein	12					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)											CAGGGTAAGGAGGAGTTGGGG	0.667																																						ENST00000306984.5																			0											c.(31-33)ccfs		M-phase specific PLK1 interacting protein							6	7	7					7																	40174134		1617	3589	5206	SO:0001589	frameshift_variant	136647				cell division|mitosis	microtubule organizing center|nucleus		g.chr7:40174134delA	AX048113	CCDS5463.1	7p14	2014-09-17	2012-03-01	2012-03-01	ENSG00000168303	ENSG00000168303			16002	protein-coding gene	gene with protein product	tricothiodystrophy, non-photosensitive 1	609188	"chromosome 7 open reading frame 11"	C7orf11		11829489	Standard	NM_138701		Approved	ORF20, TTDN1	uc003thl.4	Q8TAP9	OTTHUMG00000128797	ENST00000306984.6:c.33delT	7.37:g.40174134delA	ENSP00000304553:p.Pro12fs						p.P12fs	NM_138701.3	NP_619646.1	Q8TAP9	TTDN1_HUMAN			1	124	-			12						Frame_Shift_Del	DEL	ENST00000306984.6	37	c.33delT	CCDS5463.1																																																																																				0.667	MPLKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250729.3	NM_138701		2	4						2	4	---	---	---	---	-	40174134	A	-	40174134	7	5	498	1	0	1	0	1	0	0	0	0	2377	291	11	0	514	0	C7orf11	7	40174134	Frame_Shift_Del	DEL	A	TCGA-ZG-A9NI-01A-11D-A41K-08	4881002	40174134	118964529	38	32998											
PCLO	27445	broad.mit.edu	37	chr7	82545234	82545234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatgcttgatattggactgCttgccatgctacttctttcc	7	17	7	10	0	1	1	0	1	1	0	2	2	2	2	2	1	5	3	2	1	3	8			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr7:82545234C>T	ENST00000333891.9	-	7	12405	c.12068G>A	c.(12067-12069)aGc>aAc	p.S4023N	PCLO_ENST00000423517.2_Missense_Mutation_p.S4023N|PCLO_ENST00000437081.1_Missense_Mutation_p.S743N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						TATTGGACTGCTTGCCATGCT	0.393																																						ENST00000423517.2																			0				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						c.(12067-12069)aGc>aAc		piccolo presynaptic cytomatrix protein							208	195	199					7																	82545234		1938	4141	6079	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545234C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12068G>A	7.37:g.82545234C>T	ENSP00000334319:p.Ser4023Asn					PCLO_ENST00000333891.8_Missense_Mutation_p.S4023N|PCLO_ENST00000437081.1_Missense_Mutation_p.S743N	p.S4023N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	12405	-			3954						Missense_Mutation	SNP	ENST00000333891.9	37	c.12068G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689254	0.29962	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17528	2.27;2.27	5.85	5.85	0.93711	.	.	.	.	.	T	0.37100	0.0991	L	0.55481	1.735	0.36507	D	0.86933	B;D;D	0.63046	0.321;0.992;0.992	B;P;P	0.59357	0.136;0.856;0.856	T	0.20140	-1.0284	9	0.87932	D	0	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	3954;4023;4023	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	N	4023;4023;743	ENSP00000334319:S4023N;ENSP00000388393:S4023N	ENSP00000334319:S4023N	S	-	2	0	PCLO	82383170	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.247000	0.51422	2.767000	0.95098	0.563000	0.77884	AGC		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		38	57	0	0	0	1	0	38	57					T	82545234	C	T	82545234	3	4	498	1	0	0	0	0	1	0	0	0	11583	797	28	3	3453	3	PCLO	7	82545234	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	42371100	82545234	76593429	39	32999											
PCLO	27445	broad.mit.edu	37	chr7	82764229	82764229	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcggtaggtcgtgggccAgggggtgttggtgacccttt	4	10	18	9	2	0	1	0	1	0	0	1	1	0	1	3	6	1	2	3	6	1	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr7:82764229A>G	ENST00000333891.9	-	3	2974	c.2637T>C	c.(2635-2637)ccT>ccC	p.P879P	PCLO_ENST00000423517.2_Silent_p.P879P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						GTCGTGGGCCAGGGGGTGTTG	0.517																																						ENST00000423517.2																			0				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						c.(2635-2637)ccT>ccC		piccolo presynaptic cytomatrix protein							203	204	203					7																	82764229		1987	4164	6151	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764229A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2637T>C	7.37:g.82764229A>G						PCLO_ENST00000333891.8_Silent_p.P879P	p.P879P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	2974	-			825			Pro-rich.			Silent	SNP	ENST00000333891.9	37	c.2637T>C	CCDS47630.1																																																																																				0.517	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		22	204	0	0	0	1	0	22	204					G	82764229	A	G	82764229	2	3	498	1	0	0	0	0	0	0	0	1	11583	175	7	4		4	PCLO	7	82764229	Silent	SNP	A	TCGA-ZG-A9NI-01A-11D-A41K-08	218995	82764229	76374434	40	33000											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432749	117432749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatcaggaccacctgcttGttcttgccacgctcttcctc	6	12	7	16	1	3	0	1	0	2	0	5	1	4	1	4	1	3	4	4	1	0	4			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr7:117432749G>T	ENST00000160373.3	-	4	592	c.501C>A	c.(499-501)aaC>aaA	p.N167K	CTTNBP2_ENST00000487820.1_5'UTR	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	167					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCACCTGCTTGTTCTTGCCAC	0.522																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(499-501)aaC>aaA		cortactin binding protein 2							101	95	97					7																	117432749		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432749G>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.501C>A	7.37:g.117432749G>T	ENSP00000160373:p.Asn167Lys					CTTNBP2_ENST00000487820.1_5'UTR	p.N167K	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	592	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		167					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.501C>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568142	0.28003	.	.	ENSG00000077063	ENST00000160373;ENST00000434890;ENST00000454375	T;T;T	0.42900	0.96;0.96;0.96	5.77	2.97	0.34412	Cortactin-binding protein-2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56140	0.1965	M	0.62723	1.935	0.45490	D	0.998458	D	0.89917	1.0	D	0.87578	0.998	T	0.56159	-0.8025	10	0.72032	D	0.01	-0.0647	7.3908	0.26909	0.412:0.0:0.588:0.0	.	167	Q8WZ74	CTTB2_HUMAN	K	167;125;125	ENSP00000160373:N167K;ENSP00000396014:N125K;ENSP00000405831:N125K	ENSP00000160373:N167K	N	-	3	2	CTTNBP2	117219985	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	0.715000	0.25822	0.920000	0.36970	-0.127000	0.14921	AAC		0.522	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		16	78	1	0	5.01169e-05	1	5.99337e-05	16	78					T	117432749	G	T	117432749	3	4	498	1	0	0	0	0	1	0	0	0	4045	1368	48	5	4570	5	CTTNBP2	7	117432749	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	34668520	117432749	41705914	41	33001											
RNF32	140545	broad.mit.edu	37	chr7	156469181	156469181	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgctgctggcggtcagcgCgtgggtgcaggcaggcgttc	3	8	18	12	5	1	0	1	0	0	0	3	0	2	0	1	5	3	5	1	5	0	1	rs373560241		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr7:156469181C>T	ENST00000405335.1	+	10	1330	c.921C>T	c.(919-921)cgC>cgT	p.R307R	LMBR1_ENST00000430825.2_5'UTR|RNF32_ENST00000317955.5_Silent_p.R307R|RNF32_ENST00000392743.2_Silent_p.R307R|RNF32_ENST00000432459.2_Silent_p.R307R|RNF32_ENST00000343665.4_Silent_p.R283R|RNF32_ENST00000311822.8_3'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32	307			R -> C (in dbSNP:rs2302146).			aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			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)		GCGGTCAGCGCGTGGGTGCAG	0.667																																						ENST00000405335.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(919-921)cgC>cgT		ring finger protein 32		C	,,	0,4406		0,0,2203	47	41	43		921,921,921	-7.8	0	7		43	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	RNF32	NM_001184996.1,NM_001184997.1,NM_030936.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	307/363,307/363,307/363	156469181	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156469181C>T		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"RING-type (C3HC4) zinc fingers"	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.921C>T	7.37:g.156469181C>T						RNF32_ENST00000392743.2_Silent_p.R307R|RNF32_ENST00000343665.4_Silent_p.R283R|RNF32_ENST00000317955.5_Silent_p.R307R|RNF32_ENST00000311822.8_3'UTR|RNF32_ENST00000432459.2_Silent_p.R307R|AC005534.9_ENST00000430825.1_RNA	p.R307R			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	10	1330	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	307		R -> C (in dbSNP:rs2302146).			Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Silent	SNP	ENST00000405335.1	37	c.921C>T	CCDS5944.1																																																																																				0.667	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		6	20	0	0	0	1	0	6	20					T	156469181	C	T	156469181	2	4	498	1	0	0	0	0	0	0	0	1	13488	755	27	1		1	RNF32	7	156469181	Silent	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	39036432	156469181	2669482	42	33002											
CNBD1	168975	broad.mit.edu	37	chr8	87878731	87878731	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagccatcaagatgccgaTgtcttctcttccagcagcta	9	12	8	12	1	3	2	1	1	2	1	5	3	4	2	3	0	4	2	3	0	2	4	rs113899610	byFrequency	TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr8:87878731T>C	ENST00000518476.1	+	1	59	c.8T>C	c.(7-9)aTg>aCg	p.M3T		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	3										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AAGATGCCGATGTCTTCTCTT	0.458													T|||	2	0.000399361	0.0015	0	5008	,	,		20451	0		0	False		,,,				2504	0					ENST00000518476.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						c.(7-9)aTg>aCg		cyclic nucleotide binding domain containing 1		T	THR/MET	2,3914		0,2,1956	99	92	94		8	2.3	0	8	dbSNP_132	94	0,8306		0,0,4153	no	missense	CNBD1	NM_173538.2	81	0,2,6109	CC,CT,TT		0.0,0.0511,0.0164	benign	3/437	87878731	2,12220	1958	4153	6111	SO:0001583	missense	168975							g.chr8:87878731T>C	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.8T>C	8.37:g.87878731T>C	ENSP00000430073:p.Met3Thr						p.M3T	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN			1	59	+			3						Missense_Mutation	SNP	ENST00000518476.1	37	c.8T>C	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	T	6.858	0.527618	0.13127	5.11E-4	0.0	ENSG00000176571	ENST00000518476	T	0.18016	2.24	4.78	2.29	0.28610	.	0.781667	0.11272	N	0.581321	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B	0.25105	0.118	B	0.20767	0.031	T	0.31586	-0.9938	10	0.52906	T	0.07	.	7.5714	0.27909	0.3418:0.0:0.0:0.6582	.	3	Q8NA66	CNBD1_HUMAN	T	3	ENSP00000430073:M3T	ENSP00000430073:M3T	M	+	2	0	CNBD1	87947847	0.002000	0.14202	0.017000	0.16124	0.904000	0.53231	0.670000	0.25157	0.363000	0.24346	0.460000	0.39030	ATG		0.458	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		5	20	0	0	0	1	0	5	20					C	87878731	T	C	87878731	3	2	498	1	0	0	0	0	1	0	0	0	3591	1464	51	4	10	4	CNBD1	8	87878731	Missense_Mutation	SNP	T	TCGA-ZG-A9NI-01A-11D-A41K-08		87878731	58485291	43	33003											
PKHD1L1	93035	broad.mit.edu	37	chr8	110420367	110420367	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaaaggaaaacccaacttgGagacattcacactgaattgg	16	7	8	10	0	1	2	1	1	0	1	1	4	1	3	2	3	2	0	2	3	5	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr8:110420367G>T	ENST00000378402.5	+	18	2007	c.1903G>T	c.(1903-1905)Gag>Tag	p.E635*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	635					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)			ACCCAACTTGGAGACATTCAC	0.413										HNSCC(38;0.096)																												ENST00000378402.5																			0				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						c.(1903-1905)Gag>Tag		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							121	120	120					8																	110420367		1923	4134	6057	SO:0001587	stop_gained	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110420367G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1903G>T	8.37:g.110420367G>T	ENSP00000367655:p.Glu635*	HNSCC(38;0.096)					p.E635*	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		18	2007	+			635					Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	c.1903G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	40	7.967983	0.98585	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.85	5.85	0.93711	.	0.476561	0.20888	N	0.083869	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	17.648	0.88154	0.0:0.0:1.0:0.0	.	.	.	.	X	635	.	ENSP00000367655:E635X	E	+	1	0	PKHD1L1	110489543	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.432000	0.59922	2.767000	0.95098	0.563000	0.77884	GAG		0.413	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		6	49	1	0	0.0215528	1	0.022125	6	49					T	110420367	G	T	110420367	4	4	498	1	0	0	0	0	0	1	0	0	11972	1175	41	5	1973	5	PKHD1L1	8	110420367	Nonsense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	22541636	110420367	35943655	44	33004											
QSOX2	169714	broad.mit.edu	37	chr9	139115851	139115855	+	Splice_Site	DEL	ACTGA	ACTGA	-																															ccttcttcatggagctactcActgaatggggtctaggcgcg																										TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr9:139115851_139115855delACTGA	ENST00000358701.5	-	4	619_622	c.582_585delTCAGT	c.(580-585)attcag>at	p.IQ194fs		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	194					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GGAGCTACTCACTGAATGGGGTCTA	0.551																																						ENST00000358701.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.e4+1		quiescin Q6 sulfhydryl oxidase 2																																				SO:0001630	splice_region_variant	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139115851_139115855delACTGA	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"quiescin Q6-like 1"	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.584+1TCAGT>-	9.37:g.139115851_139115855delACTGA							p.194_splice	NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	4	619_622	-		Myeloproliferative disorder(178;0.0511)	194					A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Splice_Site	DEL	ENST00000358701.5	37	c.584_splice	CCDS35178.1																																																																																				0.551	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701	Frame_Shift_Del	23	59						23	59	---	---	---	---	-	139115855	ACTGA	-	139115851	8	5	498	1	0	1	0	1	0	0	1	0	12884	173	6	0	1546	0	QSOX2	9	139115851	Splice_Site	DEL	ACTGA	TCGA-ZG-A9NI-01A-11D-A41K-08		139115851	2097580	45	33005											
GAD2	2572	broad.mit.edu	37	chr10	26559644	26559644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaccccctcttagctgtcGctgacatttgcaaaaagtat	10	13	7	11	1	1	2	0	2	1	0	2	2	1	2	2	0	2	4	2	0	4	4			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr10:26559644G>A	ENST00000376261.3	+	10	1554	c.1051G>A	c.(1051-1053)Gct>Act	p.A351T	GAD2_ENST00000259271.3_Missense_Mutation_p.A351T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	351					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTAGCTGTCGCTGACATTTG	0.493																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1051-1053)Gct>Act		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						151	145	147					10																	26559644		2203	4300	6503	SO:0001583	missense	2572				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	g.chr10:26559644G>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1051G>A	10.37:g.26559644G>A	ENSP00000365437:p.Ala351Thr					GAD2_ENST00000259271.3_Missense_Mutation_p.A351T	p.A351T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			10	1554	+			351					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.1051G>A	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110451	0.77210	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.45668	0.89;0.89	5.76	5.76	0.90799	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.099611	0.64402	D	0.000002	T	0.60235	0.2253	M	0.91872	3.25	0.80722	D	1	P	0.45240	0.854	B	0.43623	0.425	T	0.70802	-0.4773	10	0.66056	D	0.02	-13.6599	19.5667	0.95397	0.0:0.0:1.0:0.0	.	351	Q05329	DCE2_HUMAN	T	351	ENSP00000365437:A351T;ENSP00000259271:A351T	ENSP00000259271:A351T	A	+	1	0	GAD2	26599650	1.000000	0.71417	0.986000	0.45419	0.629000	0.37895	5.675000	0.68123	2.740000	0.93945	0.643000	0.83706	GCT		0.493	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		15	143	0	0	0	1	0	15	143					A	26559644	G	A	26559644	3	1	498	1	0	0	0	0	1	0	0	0	6180	1087	38	1	1089	1	GAD2	10	26559644	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08		26559644	108975103	46	33006											
KIAA1274	27143	broad.mit.edu	37	chr10	72289648	72289648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctctcccctgccagggcCgctacttcctggtgcgggat	3	10	13	15	2	1	0	0	0	1	0	3	1	2	1	5	4	3	2	5	4	1	2	rs373966854		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr10:72289648C>T	ENST00000263563.6	+	4	560	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	98						cytosol (GO:0005829)											CTGCCAGGGCCGCTACTTCCT	0.642																																						ENST00000263563.6																			0											c.(292-294)Cgc>Tgc		phosphatase domain containing, paladin 1		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	39	37	38		292	4.4	1	10		38	0,8600		0,0,4300	no	missense	KIAA1274	NM_014431.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	98/857	72289648	1,13005	2203	4300	6503	SO:0001583	missense	27143							g.chr10:72289648C>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.292C>T	10.37:g.72289648C>T	ENSP00000263563:p.Arg98Cys						p.R98C	NM_014431.2	NP_055246.2					4	560	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	c.292C>T	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608633	0.66558	2.27E-4	0.0	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.31769	1.48	5.35	4.39	0.52855	.	0.246377	0.37809	N	0.001938	T	0.49098	0.1537	M	0.73962	2.25	0.45139	D	0.99815	D	0.76494	0.999	P	0.59424	0.857	T	0.52041	-0.8628	10	0.87932	D	0	-31.821	11.6504	0.51286	0.3301:0.6699:0.0:0.0	.	98	Q9ULE6	PALD_HUMAN	C	98	ENSP00000263563:R98C	ENSP00000263563:R98C	R	+	1	0	KIAA1274	71959654	0.991000	0.36638	1.000000	0.80357	0.691000	0.40173	2.717000	0.47227	2.677000	0.91161	0.563000	0.77884	CGC		0.642	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		14	17	0	0	0	1	0	14	17					T	72289648	C	T	72289648	3	4	498	1	0	0	0	0	1	0	0	0	8220	652	23	2	302	2	KIAA1274	10	72289648	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	45730004	72289648	63245099	47	33007											
SEC24C	9632	broad.mit.edu	37	chr10	75529481	75529481	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaactgtgctagcccctcctCtgcaggacaggtggggcaag	8	7	14	12	0	1	0	0	0	1	0	2	2	2	1	3	4	4	3	3	4	3	1			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr10:75529481C>G	ENST00000339365.2	+	20	2834	c.2672C>G	c.(2671-2673)tCt>tGt	p.S891C	SEC24C_ENST00000540668.1_Missense_Mutation_p.S139C|SEC24C_ENST00000535742.1_Missense_Mutation_p.S139C|SEC24C_ENST00000411652.2_Missense_Mutation_p.S772C|FUT11_ENST00000394790.1_5'Flank|SEC24C_ENST00000345254.4_Missense_Mutation_p.S891C|FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	891					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			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)					AGCCCCTCCTCTGCAGGACAG	0.502																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2671-2673)tCt>tGt		SEC24 family member C							71	71	71					10																	75529481		2203	4300	6503	SO:0001583	missense	9632				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	g.chr10:75529481C>G	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2672C>G	10.37:g.75529481C>G	ENSP00000343405:p.Ser891Cys					SEC24C_ENST00000540668.1_Missense_Mutation_p.S139C|SEC24C_ENST00000535742.1_Missense_Mutation_p.S139C|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000345254.4_Missense_Mutation_p.S891C|SEC24C_ENST00000411652.2_Missense_Mutation_p.S772C	p.S891C	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			20	2834	+	Prostate(51;0.0112)		891					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2672C>G	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898294	0.72639	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66	5.58	5.58	0.84498	Sec23/Sec24, helical domain (2);	0.048251	0.85682	D	0.000000	D	0.96087	0.8725	M	0.88906	2.99	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.70016	0.91;0.967	D	0.95735	0.8778	10	0.49607	T	0.09	-6.124	19.5474	0.95305	0.0:1.0:0.0:0.0	.	772;891	E7EP00;P53992	.;SC24C_HUMAN	C	139;891;139;891;772	ENSP00000446174:S139C;ENSP00000321845:S891C;ENSP00000445023:S139C;ENSP00000343405:S891C;ENSP00000402913:S772C	ENSP00000343405:S891C	S	+	2	0	SEC24C	75199487	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.029000	0.70895	2.629000	0.89072	0.484000	0.47621	TCT		0.502	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			6	52	0	0	0	1	0	6	52					G	75529481	C	G	75529481	3	3	498	1	0	0	0	0	1	0	0	0	13996	913	32	5	2742	5	SEC24C	10	75529481	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	3239833	75529481	60005266	48	33008											
PLCE1	51196	broad.mit.edu	37	chr10	95993811	95993811	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgtcatttacttgcaatagGtcaagaaaagttttaaaaat	17	14	6	4	0	2	1	2	0	0	1	2	1	2	1	0	1	2	2	0	1	9	6			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr10:95993811G>A	ENST00000371380.3	+	5	2191	c.1956G>A	c.(1954-1956)agG>agA	p.R652R	PLCE1_ENST00000371385.3_Splice_Site_p.R344R|PLCE1_ENST00000371375.1_Splice_Site_p.R344R|PLCE1_ENST00000260766.3_Splice_Site_p.R652R			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	652	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTTGCAATAGGTCAAGAAAAG	0.373																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.e6-1		phospholipase C, epsilon 1							52	51	51					10																	95993811		1884	4102	5986	SO:0001630	splice_region_variant	51196				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	g.chr10:95993811G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1956-1G>A	10.37:g.95993811G>A						PLCE1_ENST00000371375.1_Splice_Site_p.R344_splice|PLCE1_ENST00000371385.3_Splice_Site_p.R344_splice|PLCE1_ENST00000371380.2_Splice_Site_p.R652_splice	p.R652_splice	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			6	2590	+		Colorectal(252;0.0458)	652			Ras-GEF.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Splice_Site	SNP	ENST00000371380.3	37	c.1955_splice	CCDS41552.1																																																																																				0.373	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	Silent	4	20	0	0	0	1	0	4	20					A	95993811	G	A	95993811	5	1	498	1	0	0	0	0	0	0	1	0	12034	1275	44	3	2260	3	PLCE1	10	95993811	Splice_Site	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	20464330	95993811	39540936	49	33009											
TMEM180	79847	broad.mit.edu	37	chr10	104228878	104228878	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcaccaccatcctgcacaAtgtcttcctgctctactatg	8	13	4	16	0	3	0	1	0	2	0	5	0	5	0	4	0	3	2	4	0	3	4			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr10:104228878A>C	ENST00000238936.4	+	3	329	c.92A>C	c.(91-93)aAt>aCt	p.N31T	TMEM180_ENST00000366277.2_5'UTR|TMEM180_ENST00000450947.2_3'UTR|TMEM180_ENST00000369931.3_Missense_Mutation_p.N31T	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	31						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ATCCTGCACAATGTCTTCCTG	0.577																																						ENST00000238936.4																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13						c.(91-93)aAt>aCt		transmembrane protein 180							147	119	129					10																	104228878		2203	4300	6503	SO:0001583	missense	79847					integral to membrane		g.chr10:104228878A>C	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.92A>C	10.37:g.104228878A>C	ENSP00000238936:p.Asn31Thr					TMEM180_ENST00000369931.3_Missense_Mutation_p.N31T|TMEM180_ENST00000450947.2_3'UTR|TMEM180_ENST00000366277.2_5'UTR	p.N31T	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	3	329	+		Colorectal(252;0.122)	31					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	ENST00000238936.4	37	c.92A>C	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.339628	0.81911	.	.	ENSG00000138111	ENST00000447593;ENST00000238936;ENST00000369931	D	0.85955	-2.05	5.73	5.73	0.89815	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.91099	0.7198	M	0.66939	2.045	0.80722	D	1	D;D;P	0.69078	0.997;0.993;0.947	D;D;P	0.73380	0.98;0.956;0.777	D	0.90793	0.4688	9	.	.	.	-1.8335	15.9997	0.80285	1.0:0.0:0.0:0.0	.	31;31;31	B4DWN6;Q14CX5;Q6UWF4	.;TM180_HUMAN;.	T	31	ENSP00000238936:N31T	.	N	+	2	0	TMEM180	104218868	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.331000	0.96430	2.189000	0.69895	0.391000	0.25812	AAT		0.577	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		10	41	0	0	0	1	0	10	41					C	104228878	A	C	104228878	3	2	498	1	0	0	0	0	1	0	0	0	16096	101	4	5	94	5	TMEM180	10	104228878	Missense_Mutation	SNP	A	TCGA-ZG-A9NI-01A-11D-A41K-08	8235067	104228878	31305869	50	33010											
ITPRIP	85450	broad.mit.edu	37	chr10	106075031	106075031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatgtcttccccgagcttgGtcttgccgcagatgcagctc	5	11	11	14	2	2	1	0	0	2	1	4	2	3	1	3	1	4	5	3	1	0	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr10:106075031G>T	ENST00000337478.1	-	2	950	c.779C>A	c.(778-780)aCc>aAc	p.T260N	ITPRIP_ENST00000358187.2_Missense_Mutation_p.T260N|RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Missense_Mutation_p.T260N	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	260						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CCCGAGCTTGGTCTTGCCGCA	0.642																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(778-780)aCc>aAc		inositol 1,4,5-trisphosphate receptor interacting protein							50	50	50					10																	106075031		2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106075031G>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.779C>A	10.37:g.106075031G>T	ENSP00000337178:p.Thr260Asn					ITPRIP_ENST00000337478.1_Missense_Mutation_p.T260N|ITPRIP_ENST00000358187.2_Missense_Mutation_p.T260N	p.T260N	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	1231	-			260					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.779C>A	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648385	0.67358	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.22945	1.93;1.93;1.93	5.25	5.25	0.73442	.	0.107907	0.64402	D	0.000006	T	0.42539	0.1207	M	0.65975	2.015	0.42338	D	0.992322	D	0.57899	0.981	P	0.52267	0.694	T	0.30416	-0.9979	10	0.46703	T	0.11	-30.7722	19.2093	0.93747	0.0:0.0:1.0:0.0	.	260	Q8IWB1	IPRI_HUMAN	N	260	ENSP00000337178:T260N;ENSP00000278071:T260N;ENSP00000350915:T260N	ENSP00000278071:T260N	T	-	2	0	ITPRIP	106065021	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	6.366000	0.73095	2.601000	0.87937	0.467000	0.42956	ACC		0.642	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		5	47	1	0	3.59834e-05	1	4.34799e-05	5	47					T	106075031	G	T	106075031	3	4	498	1	0	0	0	0	1	0	0	0	7923	1261	44	5	868	5	ITPRIP	10	106075031	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	1846153	106075031	29459716	51	33011											
PPAPDC1A	196051	broad.mit.edu	37	chr10	122348981	122348981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacagcgcacccagcttGcctctggaggggatcaccga	8	6	13	14	2	2	1	1	1	1	0	2	4	2	3	3	3	3	3	3	3	0	1			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr10:122348981G>T	ENST00000398250.1	+	7	1135	c.783G>T	c.(781-783)ttG>ttT	p.L261F	PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.L198F|PPAPDC1A_ENST00000398248.1_3'UTR|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.L251F	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	261					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			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)		CACCCAGCTTGCCTCTGGAGG	0.572																																						ENST00000398250.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20						c.(781-783)ttG>ttT		phosphatidic acid phosphatase type 2 domain containing 1A							50	57	55					10																	122348981		2054	4198	6252	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122348981G>T	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"phosphatidic acid phosphatase type 2 domain containing 1"	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.783G>T	10.37:g.122348981G>T	ENSP00000381302:p.Leu261Phe					PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.L198F|PPAPDC1A_ENST00000398248.1_3'UTR|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.L251F	p.L261F	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	7	1135	+		Lung NSC(174;0.1)|all_lung(145;0.132)	261					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.783G>T	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527699	0.64860	.	.	ENSG00000203805	ENST00000439221;ENST00000398250;ENST00000427079;ENST00000369073	T;T;T	0.51325	0.73;0.71;0.73	5.36	4.46	0.54185	.	0.282649	0.27659	N	0.018382	T	0.34542	0.0901	L	0.29908	0.895	0.80722	D	1	P;B	0.39131	0.661;0.087	B;B	0.38755	0.281;0.033	T	0.06826	-1.0805	10	0.09338	T	0.73	-8.5035	14.1979	0.65684	0.0726:0.0:0.9274:0.0	.	198;261	Q5VZY2-2;Q5VZY2	.;PPC1A_HUMAN	F	198;261;261;251	ENSP00000381302:L261F;ENSP00000407979:L261F;ENSP00000358069:L251F	ENSP00000358069:L251F	L	+	3	2	PPAPDC1A	122338971	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.460000	0.45031	1.262000	0.44165	-0.150000	0.13652	TTG		0.572	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		15	32	1	0	0.000219431	1	0.00025454	15	32					T	122348981	G	T	122348981	3	4	498	1	0	0	0	0	1	0	0	0	12293	1310	46	5	809	5	PPAPDC1A	10	122348981	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	16273950	122348981	13185766	52	33012											
MUC5B	727897	broad.mit.edu	37	chr11	1271515	1271515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccggatccacggccaccGcctcctccacccaggcaact	8	4	7	22	3	0	0	0	0	0	0	3	1	3	1	9	3	1	1	9	3	1	0			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:1271515G>A	ENST00000529681.1	+	31	13463	c.13405G>A	c.(13405-13407)Gcc>Acc	p.A4469T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A4472T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4469	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				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)		CACGGCCACCGCCTCCTCCAC	0.672																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13414-13416)Gcc>Acc		mucin 5B, oligomeric mucus/gel-forming							43	53	49					11																	1271515		1987	4100	6087	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271515G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13405G>A	11.37:g.1271515G>A	ENSP00000436812:p.Ala4469Thr					MUC5B_ENST00000529681.1_Missense_Mutation_p.A4469T	p.A4472T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	13472	+		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)	4469			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.13414G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	7.670	0.686753	0.14973	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.16897	2.31;2.5	1.68	-3.36	0.04913	.	.	.	.	.	T	0.09598	0.0236	L	0.27053	0.805	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.04013	0.001;0.001	T	0.33163	-0.9879	9	0.87932	D	0	.	3.6418	0.08170	0.0:0.1991:0.5134:0.2875	.	4942;4472	A7Y9J9;E9PBJ0	.;.	T	4469;4472;4413;4319;248	ENSP00000436812:A4469T;ENSP00000415793:A4472T	ENSP00000343037:A4413T	A	+	1	0	MUC5B	1228091	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	-1.443000	0.02405	-0.754000	0.04715	0.121000	0.15741	GCC		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		19	63	0	0	0	1	0	19	63					A	1271515	G	A	1271515	3	1	498	1	0	0	0	0	1	0	0	0	9979	1087	38	1	13536	1	MUC5B	11	1271515	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08		1271515	133735001	53	33013											
OR51A4	401666	broad.mit.edu	37	chr11	4967661	4967661	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaattcccagtacagtctTgaggatcagggtgtaagaca	12	10	11	8	0	2	2	1	1	1	1	3	3	3	3	1	2	2	3	1	2	3	4			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:4967661T>C	ENST00000380373.2	-	1	695	c.670A>G	c.(670-672)Aag>Gag	p.K224E	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		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)		AGTACAGTCTTGAGGATCAGG	0.423																																						ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(670-672)Aag>Gag		olfactory receptor, family 51, subfamily A, member 4							99	85	90					11																	4967661		2201	4295	6496	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967661T>C	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"GPCR / Class A : Olfactory receptors"	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.670A>G	11.37:g.4967661T>C	ENSP00000369731:p.Lys224Glu					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.K224E	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	695	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	224						Missense_Mutation	SNP	ENST00000380373.2	37	c.670A>G	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.575168	0.45902	.	.	ENSG00000205497	ENST00000380373	T	0.38722	1.12	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.68293	0.2985	M	0.93197	3.39	0.09310	N	1	D	0.67145	0.996	D	0.67900	0.954	T	0.59311	-0.7478	9	0.72032	D	0.01	.	7.9108	0.29789	0.0:0.0:0.2092:0.7907	.	224	Q8NGJ6	O51A4_HUMAN	E	224	ENSP00000369731:K224E	ENSP00000369731:K224E	K	-	1	0	OR51A4	4924237	0.000000	0.05858	0.011000	0.14972	0.949000	0.60115	-0.220000	0.09215	1.571000	0.49722	0.392000	0.25879	AAG		0.423	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		9	34	0	0	0	1	0	9	34					C	4967661	T	C	4967661	3	2	498	1	0	0	0	0	1	0	0	0	11087	1821	63	4	273	4	OR51A4	11	4967661	Missense_Mutation	SNP	T	TCGA-ZG-A9NI-01A-11D-A41K-08	3696146	4967661	130038855	54	33014											
QSER1	79832	broad.mit.edu	37	chr11	32997949	32997949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaactttgtatgaaaaatGtaaaatgggtggaggacctc	14	12	10	5	0	1	1	1	1	0	0	2	3	1	3	1	3	1	2	1	3	6	4			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:32997949G>A	ENST00000399302.2	+	13	5472	c.5137G>A	c.(5137-5139)Gta>Ata	p.V1713I	QSER1_ENST00000527788.1_Missense_Mutation_p.V1474I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1713										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TATGAAAAATGTAAAATGGGT	0.318																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(5137-5139)Gta>Ata		glutamine and serine rich 1							82	80	81					11																	32997949		1803	4063	5866	SO:0001583	missense	79832							g.chr11:32997949G>A	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.5137G>A	11.37:g.32997949G>A	ENSP00000382241:p.Val1713Ile					QSER1_ENST00000527788.1_Missense_Mutation_p.V1474I	p.V1713I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			13	5472	+	Breast(20;0.158)		1713					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.5137G>A	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	G	6.084	0.383705	0.11524	.	.	ENSG00000060749	ENST00000399302;ENST00000527788	T;T	0.22743	2.27;1.94	5.78	4.81	0.61882	.	0.256100	0.17353	U	0.177327	T	0.07098	0.0180	N	0.03608	-0.345	0.24902	N	0.992093	B;B	0.16802	0.019;0.005	B;B	0.12156	0.007;0.003	T	0.40156	-0.9578	10	0.09084	T	0.74	.	4.4227	0.11488	0.1819:0.2085:0.6096:0.0	.	1474;1713	Q2KHR3-2;Q2KHR3	.;QSER1_HUMAN	I	1713;1474	ENSP00000382241:V1713I;ENSP00000432766:V1474I	ENSP00000382241:V1713I	V	+	1	0	QSER1	32954525	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.937000	0.48979	2.744000	0.94065	0.563000	0.77884	GTA		0.318	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		5	56	0	0	0	1	0	5	56					A	32997949	G	A	32997949	3	1	498	1	0	0	0	0	1	0	0	0	12882	1377	48	3	5179	3	QSER1	11	32997949	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	28030288	32997949	102008567	55	33015											
LRRC55	219527	broad.mit.edu	37	chr11	56950004	56950004	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccgagacctggacctcAgttatgggggcctggccttc	6	9	13	13	1	1	1	1	0	0	1	3	3	2	2	5	4	1	2	5	4	1	2			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:56950004A>G	ENST00000497933.1	+	1	784	c.637A>G	c.(637-639)Agt>Ggt	p.S213G		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	183	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCTGGACCTCAGTTATGGGGG	0.652																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(637-639)Agt>Ggt		leucine rich repeat containing 55							56	57	57					11																	56950004		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56950004A>G		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.637A>G	11.37:g.56950004A>G	ENSP00000419542:p.Ser213Gly						p.S213G	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			1	784	+			183			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.637A>G	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.047214	0.75846	.	.	ENSG00000183908	ENST00000497933	T	0.03413	3.94	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	T	0.10723	0.0262	M	0.67397	2.05	0.58432	D	0.999995	P	0.43314	0.803	P	0.50192	0.634	T	0.15037	-1.0451	10	0.25751	T	0.34	.	15.3309	0.74208	1.0:0.0:0.0:0.0	.	183	Q6ZSA7	LRC55_HUMAN	G	213	ENSP00000419542:S213G	ENSP00000419542:S213G	S	+	1	0	LRRC55	56706580	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	4.147000	0.58078	2.254000	0.74563	0.533000	0.62120	AGT		0.652	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		12	38	0	0	0	1	0	12	38					G	56950004	A	G	56950004	3	3	498	1	0	0	0	0	1	0	0	0	9011	188	7	4	639	4	LRRC55	11	56950004	Missense_Mutation	SNP	A	TCGA-ZG-A9NI-01A-11D-A41K-08	23952055	56950004	78056512	56	33016											
EHBP1L1	254102	broad.mit.edu	37	chr11	65343824	65343824	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcaagcgggcggccaaGttccagttcgtggcctgtta	6	9	16	10	3	0	0	0	0	0	0	2	0	1	0	3	4	1	4	3	4	3	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:65343824G>A	ENST00000309295.4	+	1	316	c.51G>A	c.(49-51)aaG>aaA	p.K17K		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	17						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGCGGCCAAGTTCCAGTTCG	0.692																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(49-51)aaG>aaA		EH domain binding protein 1-like 1							28	34	32					11																	65343824		1932	4125	6057	SO:0001819	synonymous_variant	254102							g.chr11:65343824G>A	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.51G>A	11.37:g.65343824G>A							p.K17K	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			1	316	+			17					Q8TB89|Q9H7M7	Silent	SNP	ENST00000309295.4	37	c.51G>A	CCDS44649.1																																																																																				0.692	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		3	3	0	0	0	1	0	3	3					A	65343824	G	A	65343824	2	1	498	1	0	0	0	0	0	0	0	1	4976	1020	36	3		3	EHBP1L1	11	65343824	Silent	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	8393820	65343824	69662692	57	33017											
KCNE3	10008	broad.mit.edu	37	chr11	74168427	74168427	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagaaacatgacaaagagaAtgtacatgtaggagttgtca	18	9	10	4	0	1	3	1	1	0	2	1	5	1	4	0	1	2	3	0	1	6	4			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:74168427A>T	ENST00000310128.4	-	3	601	c.182T>A	c.(181-183)aTt>aAt	p.I61N	RP11-702H23.6_ENST00000530510.1_RNA|RP11-702H23.4_ENST00000533008.1_RNA|KCNE3_ENST00000525550.1_Missense_Mutation_p.I61N	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	61					regulation of potassium ion transport (GO:0043266)	integral component of membrane (GO:0016021)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					GACAAAGAGAATGTACATGTA	0.557																																						ENST00000310128.4																			0				cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(181-183)aTt>aAt		potassium voltage-gated channel, Isk-related family, member 3							83	71	75					11																	74168427		2200	4293	6493	SO:0001583	missense	10008					integral to membrane	voltage-gated potassium channel activity	g.chr11:74168427A>T	AF076531	CCDS8232.1	11q13.4	2014-09-17				ENSG00000175538		"Potassium channels"	6243	protein-coding gene	gene with protein product		604433				10219239	Standard	NM_005472		Approved	MiRP2, HOKPP	uc001ovc.3	Q9Y6H6		ENST00000310128.4:c.182T>A	11.37:g.74168427A>T	ENSP00000310557:p.Ile61Asn					KCNE3_ENST00000525550.1_Missense_Mutation_p.I61N|RP11-702H23.4_ENST00000533008.1_RNA	p.I61N	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN			3	601	-	Breast(11;2.86e-06)		61						Missense_Mutation	SNP	ENST00000310128.4	37	c.182T>A	CCDS8232.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.328746	0.81690	.	.	ENSG00000175538	ENST00000310128;ENST00000525550;ENST00000532569	D;D;D	0.94330	-3.4;-3.4;-3.4	5.33	5.33	0.75918	.	0.070924	0.64402	D	0.000020	D	0.95351	0.8491	M	0.78456	2.415	0.47441	D	0.999421	P	0.51791	0.948	P	0.55455	0.776	D	0.95713	0.8759	10	0.87932	D	0	-39.3509	13.2999	0.60319	1.0:0.0:0.0:0.0	.	61	Q9Y6H6	KCNE3_HUMAN	N	61	ENSP00000310557:I61N;ENSP00000433633:I61N;ENSP00000431739:I61N	ENSP00000310557:I61N	I	-	2	0	KCNE3	73846075	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.836000	0.69375	2.237000	0.73441	0.459000	0.35465	ATT		0.557	KCNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385531.1	NM_005472		9	28	0	0	0	1	0	9	28					T	74168427	A	T	74168427	3	4	498	1	0	0	0	0	1	0	0	0	8024	101	4	5	133	5	KCNE3	11	74168427	Missense_Mutation	SNP	A	TCGA-ZG-A9NI-01A-11D-A41K-08	8824603	74168427	60838089	58	33018											
FAT3	120114	broad.mit.edu	37	chr11	92590447	92590447	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggacatgcagtgtgtCagttatgaagccagcaggag	11	7	15	8	0	1	1	1	1	0	0	1	3	1	3	2	3	3	3	2	3	2	1	rs554596112		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:92590447C>A	ENST00000298047.6	+	19	11450	c.11433C>A	c.(11431-11433)gtC>gtA	p.V3811V	FAT3_ENST00000409404.2_Silent_p.V3811V|FAT3_ENST00000533797.1_Silent_p.V146V|FAT3_ENST00000525166.1_Silent_p.V3661V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3811	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)				TGCAGTGTGTCAGTTATGAAG	0.542										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				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						c.(11431-11433)gtC>gtA		FAT atypical cadherin 3							115	123	120					11																	92590447		2028	4192	6220	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92590447C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11433C>A	11.37:g.92590447C>A		TCGA Ovarian(4;0.039)				FAT3_ENST00000533797.1_Silent_p.V146V|FAT3_ENST00000525166.1_Silent_p.V3661V|FAT3_ENST00000409404.2_Silent_p.V3811V	p.V3811V			Q8TDW7	FAT3_HUMAN			19	11450	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3811			EGF-like 1.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.11433C>A																																																																																					0.542	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	34	1	0	0.00621372	1	0.00655265	7	34					A	92590447	C	A	92590447	2	1	498	1	0	0	0	0	0	0	0	1	5691	813	29	5		5	FAT3	11	92590447	Silent	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	18422020	92590447	42416069	59	33019											
FAM55D	54827	broad.mit.edu	37	chr11	114442009	114442009	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagggaaataacaatgacaGtatttttttctcctccagtt	12	14	6	9	0	1	1	0	1	1	0	3	2	2	2	3	1	1	2	3	1	4	6			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:114442009G>T	ENST00000375478.3	-	6	1466	c.1286C>A	c.(1285-1287)aCt>aAt	p.T429N	NXPE4_ENST00000424261.2_Missense_Mutation_p.T145N	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	429						extracellular vesicular exosome (GO:0070062)											AACAATGACAGTATTTTTTTC	0.428																																						ENST00000375478.3																			0											c.(1285-1287)aCt>aAt		neurexophilin and PC-esterase domain family, member 4							165	154	157					11																	114442009		1859	4085	5944	SO:0001583	missense	54827							g.chr11:114442009G>T	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 33", "family with sequence similarity 55, member D"	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1286C>A	11.37:g.114442009G>T	ENSP00000364627:p.Thr429Asn					NXPE4_ENST00000424261.2_Missense_Mutation_p.T145N	p.T429N	NM_001077639.1	NP_001071107.1					6	1466	-								Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.1286C>A	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080507	0.76528	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.25085	2.26;1.82	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000006	T	0.61211	0.2329	M	0.91300	3.195	0.47065	D	0.999304	D	0.89917	1.0	D	0.91635	0.999	T	0.67499	-0.5655	10	0.51188	T	0.08	.	18.2129	0.89876	0.0:0.0:1.0:0.0	.	429	Q6UWF7	FA55D_HUMAN	N	145;429	ENSP00000401503:T145N;ENSP00000364627:T429N	ENSP00000364627:T429N	T	-	2	0	FAM55D	113947219	0.999000	0.42202	0.086000	0.20670	0.835000	0.47333	3.242000	0.51384	2.717000	0.92951	0.609000	0.83330	ACT		0.428	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		5	133	1	0	0.00116845	1	0.00131592	5	133					T	114442009	G	T	114442009	3	4	498	1	0	0	0	0	1	0	0	0	5587	1029	36	5	352	5	FAM55D	11	114442009	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	21851562	114442009	20564507	60	33020											
H2AFX	3014	broad.mit.edu	37	chr11	118966003	118966003	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtagtggcccttccgcagCagccggtgtacacggcccac	6	6	13	16	4	0	0	0	0	0	0	1	0	1	0	4	3	3	4	4	3	2	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:118966003C>T	ENST00000530167.1	-	1	174	c.102G>A	c.(100-102)ctG>ctA	p.L34L		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	34					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|nucleosome assembly (GO:0006334)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CCTTCCGCAGCAGCCGGTGTA	0.726								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000530167.1																			0				lung(3)	3						c.(100-102)ctG>ctA	Chromatin Structure	H2A histone family, member X							12	15	14					11																	118966003		2158	4236	6394	SO:0001819	synonymous_variant	3014				DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding	g.chr11:118966003C>T	X14850	CCDS8410.1	11q23.3	2011-01-27						"Histones / Replication-independent"	4739	protein-coding gene	gene with protein product		601772		H2AX		8076949	Standard	NM_002105		Approved		uc001pvg.3	P16104		ENST00000530167.1:c.102G>A	11.37:g.118966003C>T			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492		p.L34L	NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)	1	174	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	34					Q4ZGJ7|Q6IAS5	Silent	SNP	ENST00000530167.1	37	c.102G>A	CCDS8410.1																																																																																				0.726	H2AFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388330.2	NM_002105		8	13	0	0	0	1	0	8	13					T	118966003	C	T	118966003	2	4	498	1	0	0	0	0	0	0	0	1	6928	697	25	3		3	H2AFX	11	118966003	Silent	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	4523994	118966003	16040513	61	33021											
GLB1L3	112937	broad.mit.edu	37	chr11	134151337	134151337	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgggaacctggacctGgagtatgtggtgttgctgct	5	14	14	8	0	1	0	0	0	1	0	2	3	1	3	2	4	3	4	2	4	2	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:134151337G>C	ENST00000431683.2	+	4	429	c.429G>C	c.(427-429)ctG>ctC	p.L143L	GLB1L3_ENST00000389887.5_Silent_p.L143L	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	143					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		ACCTGGACCTGGAGTATGTGG	0.537																																						ENST00000389887.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(427-429)ctG>ctC		galactosidase, beta 1-like 3							215	209	211					11																	134151337		2201	4297	6498	SO:0001819	synonymous_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134151337G>C		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.429G>C	11.37:g.134151337G>C						GLB1L3_ENST00000431683.2_Silent_p.L143L	p.L143L			Q8NCI6	GLBL3_HUMAN		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)	4	2925	+	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)	143					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	ENST00000431683.2	37	c.429G>C	CCDS44780.1																																																																																				0.537	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		17	143	0	0	0	1	0	17	143					C	134151337	G	C	134151337	2	2	498	1	0	0	0	0	0	0	0	1	6430	1335	47	5		5	GLB1L3	11	134151337	Silent	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	15185334	134151337	855179	62	33022											
KDM5A	5927	broad.mit.edu	37	chr12	416934	416934	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaaggaattttacttcttTagcttgccagctggatcctt	9	15	8	9	0	1	0	0	0	1	0	2	2	2	2	2	2	4	3	2	2	4	7			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr12:416934T>A	ENST00000399788.2	-	23	3978	c.3616A>T	c.(3616-3618)Aaa>Taa	p.K1206*	KDM5A_ENST00000382815.4_Nonsense_Mutation_p.K1206*	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1206					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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 (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTTACTTCTTTAGCTTGCCAG	0.463			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"lysine (K)-specific demethylase 5A, JARID1A"			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3616-3618)Aaa>Taa		lysine (K)-specific demethylase 5A							100	98	99					12																	416934		1896	4103	5999	SO:0001587	stop_gained	5927				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	g.chr12:416934T>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3616A>T	12.37:g.416934T>A	ENSP00000382688:p.Lys1206*					KDM5A_ENST00000382815.4_Nonsense_Mutation_p.K1206*	p.K1206*	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			23	3978	-			1206					A8MV76|Q4LE72|Q86XZ1	Nonsense_Mutation	SNP	ENST00000399788.2	37	c.3616A>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	T	46	12.753091	0.99693	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	.	.	.	5.66	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.8667	12.3132	0.54940	0.127:0.0:0.0:0.873	.	.	.	.	X	1206	.	ENSP00000372265:K1206X	K	-	1	0	KDM5A	287195	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.655000	0.83696	1.047000	0.40274	0.477000	0.44152	AAA		0.463	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		30	75	0	0	0	1	0	30	75					A	416934	T	A	416934	4	1	498	1	0	0	0	0	0	1	0	0	8133	1763	61	5	1480	5	KDM5A	12	416934	Nonsense_Mutation	SNP	T	TCGA-ZG-A9NI-01A-11D-A41K-08		416934	133434961	63	33023											
SLC2A3	6515	broad.mit.edu	37	chr12	8086490	8086490	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggcaaatatcagagcTggggtgacctggagggaggg	10	7	19	5	0	1	3	1	2	0	1	1	5	1	5	1	6	1	2	1	6	2	1			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr12:8086490T>A	ENST00000075120.7	-	2	264	c.24A>T	c.(22-24)ccA>ccT	p.P8P		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	8					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.P8P(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		ATATCAGAGCTGGGGTGACCT	0.453																																					Colon(96;424 1461 14416 20933 23688)	ENST00000075120.7																			1	Substitution - coding silent(1)	p.P8P(1)	ovary(1)	central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(22-24)ccA>ccT		solute carrier family 2 (facilitated glucose transporter), member 3							83	78	79					12																	8086490		2203	4300	6503	SO:0001819	synonymous_variant	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8086490T>A	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"Solute carriers"	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.24A>T	12.37:g.8086490T>A							p.P8P	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN		Kidney(36;0.0866)	2	264	-			8					B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	c.24A>T	CCDS8586.1																																																																																				0.453	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		10	39	0	0	0	1	0	10	39					A	8086490	T	A	8086490	2	1	498	1	0	0	0	0	0	0	0	1	14545	1567	55	5		5	SLC2A3	12	8086490	Silent	SNP	T	TCGA-ZG-A9NI-01A-11D-A41K-08	7669556	8086490	125765405	64	33024											
KIF21A	55605	broad.mit.edu	37	chr12	39760856	39760856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctatttggggacacactctGgtttgacacacatgaatggt	10	13	10	8	0	2	2	0	2	2	0	2	3	2	3	0	4	0	1	0	4	2	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr12:39760856G>A	ENST00000361418.5	-	5	726	c.711C>T	c.(709-711)acC>acT	p.T237T	KIF21A_ENST00000541463.2_Silent_p.T237T|KIF21A_ENST00000395670.3_Silent_p.T237T|KIF21A_ENST00000544797.2_Silent_p.T237T|KIF21A_ENST00000361961.3_Silent_p.T237T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	237	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)				GACACACTCTGGTTTGACACA	0.378																																						ENST00000395670.3																			0				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						c.(709-711)acC>acT		kinesin family member 21A							132	120	124					12																	39760856		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39760856G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.711C>T	12.37:g.39760856G>A						KIF21A_ENST00000361418.5_Silent_p.T237T|KIF21A_ENST00000541463.2_Silent_p.T237T|KIF21A_ENST00000544797.2_Silent_p.T237T|KIF21A_ENST00000361961.3_Silent_p.T237T	p.T237T			Q7Z4S6	KI21A_HUMAN			5	1130	-		Lung NSC(34;0.179)|all_lung(34;0.213)	237			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.711C>T	CCDS53776.1																																																																																				0.378	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		6	46	0	0	0	1	0	6	46					A	39760856	G	A	39760856	2	1	498	1	0	0	0	0	0	0	0	1	8288	1335	47	3		3	KIF21A	12	39760856	Silent	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	31674366	39760856	94091039	65	33025											
PDZRN4	29951	broad.mit.edu	37	chr12	41900472	41900472	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccaagcttcgtccacctaCccctccagtgccagacatct	8	8	7	18	1	1	1	0	0	1	1	4	1	3	1	7	1	3	1	7	1	2	2			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr12:41900472C>A	ENST00000402685.2	+	4	1066	c.1058C>A	c.(1057-1059)aCc>aAc	p.T353N	PDZRN4_ENST00000539469.2_Missense_Mutation_p.T95N|PDZRN4_ENST00000298919.7_Missense_Mutation_p.T93N	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	353							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			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)				CGTCCACCTACCCCTCCAGTG	0.493																																						ENST00000298919.7																			0				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						c.(277-279)aCc>aAc		PDZ domain containing ring finger 4							158	133	142					12																	41900472		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41900472C>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1058C>A	12.37:g.41900472C>A	ENSP00000384197:p.Thr353Asn					PDZRN4_ENST00000402685.2_Missense_Mutation_p.T353N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.T95N	p.T93N			Q6ZMN7	PZRN4_HUMAN			4	666	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	353					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.278C>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736243	0.69189	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.73469	-0.75;3.73;3.72	5.08	5.08	0.68730	.	0.402333	0.22988	N	0.053229	D	0.86936	0.6053	M	0.78049	2.395	0.80722	D	1	D;B;B	0.89917	1.0;0.196;0.2	D;B;B	0.80764	0.994;0.317;0.317	D	0.87821	0.2638	10	0.72032	D	0.01	-29.9237	19.3644	0.94456	0.0:1.0:0.0:0.0	.	353;93;95	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	N	353;95;93	ENSP00000384197:T353N;ENSP00000439990:T95N;ENSP00000298919:T93N	ENSP00000298919:T93N	T	+	2	0	PDZRN4	40186739	1.000000	0.71417	0.979000	0.43373	0.705000	0.40729	4.786000	0.62425	2.758000	0.94735	0.563000	0.77884	ACC		0.493	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		6	31	1	0	0.00198382	1	0.00217097	6	31					A	41900472	C	A	41900472	3	1	498	1	0	0	0	0	1	0	0	0	11710	507	18	5	1145	5	PDZRN4	12	41900472	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	2139616	41900472	91951423	66	33026											
ARHGAP9	64333	broad.mit.edu	37	chr12	57866445	57866445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggttgtggggtgtcatgCgattcttatctgagtgtgct	5	15	14	7	1	3	1	1	1	2	0	3	2	3	1	1	3	2	2	1	3	1	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr12:57866445C>T	ENST00000356411.2	-	18	2246	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H	ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R684H|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.R774H|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R500H|ARHGAP9_ENST00000424809.2_3'UTR			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	703	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGGTGTCATGCGATTCTTATC	0.517																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(2320-2322)cGc>cAc		Rho GTPase activating protein 9							99	79	86					12																	57866445		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57866445C>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.2108G>A	12.37:g.57866445C>T	ENSP00000348782:p.Arg703His					ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R684H|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R500H|ARHGAP9_ENST00000424809.2_3'UTR|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R703H	p.R774H			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		21	2513	-			703					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.2321G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.758617|4.758617	0.89843|0.89843	.|.	.|.	ENSG00000123329|ENSG00000123329	ENST00000550399|ENST00000393791;ENST00000356411;ENST00000393797;ENST00000340423;ENST00000430041	.|T;T;T;T	.|0.20200	.|2.09;2.09;2.09;2.09	4.96|4.96	4.06|4.06	0.47325|0.47325	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.060640	.|0.64402	.|D	.|0.000003	T|T	0.41834|0.41834	0.1176|0.1176	M|M	0.62209|0.62209	1.925|1.925	0.53005|0.53005	D|D	0.999962|0.999962	.|D;D;D	.|0.89917	.|1.0;0.999;0.997	.|D;P;D	.|0.76071	.|0.95;0.87;0.987	T|T	0.32798|0.32798	-0.9893|-0.9893	5|10	.|0.72032	.|D	.|0.01	.|.	12.2591|12.2591	0.54640|0.54640	0.1705:0.8295:0.0:0.0|0.1705:0.8295:0.0:0.0	.|.	.|703;684;500	.|Q9BRR9;Q9BRR9-2;B4DVI3	.|RHG09_HUMAN;.;.	T|H	109|684;703;774;726;500	.|ENSP00000377380:R684H;ENSP00000348782:R703H;ENSP00000377386:R774H;ENSP00000397950:R500H	.|ENSP00000344852:R726H	A|R	-|-	1|2	0|0	ARHGAP9|ARHGAP9	56152712|56152712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	3.099000|3.099000	0.50267|0.50267	1.223000|1.223000	0.43536|0.43536	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.517	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		15	33	0	0	0	1	0	15	33					T	57866445	C	T	57866445	3	4	498	1	0	0	0	0	1	0	0	0	889	768	27	1	148	1	ARHGAP9	12	57866445	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	15965973	57866445	75985450	67	33027											
SLC5A8	160728	broad.mit.edu	37	chr12	101587521	101587521	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccaccatgatcccaacttGaaaaacatctgtccagataa	16	8	5	12	0	1	3	0	2	1	1	3	3	3	3	4	0	3	0	4	0	4	2			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr12:101587521G>C	ENST00000536262.2	-	5	1132	c.574C>G	c.(574-576)Caa>Gaa	p.Q192E		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATCCCAACTTGAAAAACATCT	0.398																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(574-576)Caa>Gaa		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							175	161	165					12																	101587521		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101587521G>C	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.574C>G	12.37:g.101587521G>C	ENSP00000445340:p.Gln192Glu						p.Q192E	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			5	1132	-			192						Missense_Mutation	SNP	ENST00000536262.2	37	c.574C>G	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697756	0.88830	.	.	ENSG00000256870	ENST00000536262	D	0.90900	-2.75	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98977	1.0803	10	0.87932	D	0	.	18.9401	0.92601	0.0:0.0:1.0:0.0	.	192	Q8N695	SC5A8_HUMAN	E	192	ENSP00000445340:Q192E	ENSP00000445340:Q192E	Q	-	1	0	SLC5A8	100111652	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.471000	0.97696	2.451000	0.82905	0.655000	0.94253	CAA		0.398	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		4	88	0	0	0	1	0	4	88					C	101587521	G	C	101587521	3	2	498	1	0	0	0	0	1	0	0	0	14671	1299	45	5	1302	5	SLC5A8	12	101587521	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	43721076	101587521	32264374	68	33028											
C12orf51	283450	broad.mit.edu	37	chr12	112608163	112608163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatttccagtgggtccaagGtgatctcaggggccgcgtgg	7	9	15	10	2	1	1	1	1	1	0	4	1	3	1	3	5	0	0	3	5	2	1			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr12:112608163G>T	ENST00000430131.2	-	68	11905	c.10760C>A	c.(10759-10761)aCc>aAc	p.T3587N	HECTD4_ENST00000377560.5_Missense_Mutation_p.T3837N|HECTD4_ENST00000550722.1_Missense_Mutation_p.T3863N			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3587					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGGGTCCAAGGTGATCTCAGG	0.527																																						ENST00000550722.1																			0											c.(11587-11589)aCc>aAc		HECT domain containing E3 ubiquitin protein ligase 4							61	64	63					12																	112608163		2014	4200	6214	SO:0001583	missense	283450							g.chr12:112608163G>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10760C>A	12.37:g.112608163G>T	ENSP00000404379:p.Thr3587Asn					HECTD4_ENST00000377560.5_Missense_Mutation_p.T3837N|HECTD4_ENST00000430131.2_Missense_Mutation_p.T3587N	p.T3863N	NM_001109662.3	NP_001103132.3					69	11983	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.11588C>A		.	.	.	.	.	.	.	.	.	.	G	36	5.818117	0.96982	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.47869	0.83;0.83;0.83	5.98	5.98	0.97165	.	.	.	.	.	T	0.55545	0.1927	N	0.14661	0.345	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	T	0.60667	-0.7218	9	0.66056	D	0.02	.	20.4366	0.99092	0.0:0.0:1.0:0.0	.	3587	Q9Y4D8	K0614_HUMAN	N	3837;3587;3863	ENSP00000366783:T3837N;ENSP00000404379:T3587N;ENSP00000449784:T3863N	ENSP00000366783:T3837N	T	-	2	0	C12orf51	111092546	1.000000	0.71417	0.968000	0.41197	0.890000	0.51754	9.434000	0.97515	2.837000	0.97791	0.591000	0.81541	ACC		0.527	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		6	39	1	0	8.12818e-05	1	9.52393e-05	6	39					T	112608163	G	T	112608163	3	4	498	1	0	0	0	0	1	0	0	0	1696	1261	44	5	1262	5	C12orf51	12	112608163	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	11020642	112608163	21243732	69	33029											
FBXO21	23014	broad.mit.edu	37	chr12	117603333	117603333	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtaaagcctggcttggAggaggagaagctgcacctgg	11	6	17	7	0	0	1	0	0	0	1	0	5	0	4	2	6	3	4	2	6	4	2			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr12:117603333A>C	ENST00000330622.5	-	9	1282	c.1283T>G	c.(1282-1284)cTc>cGc	p.L428R	FBXO21_ENST00000427718.2_Missense_Mutation_p.L428R			O94952	FBX21_HUMAN	F-box protein 21	428					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CCTGGCTTGGAGGAGGAGAAG	0.502																																					GBM(168;452 2038 13535 17701 43680)	ENST00000427718.2																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29						c.(1282-1284)cTc>cGc		F-box protein 21							125	118	121					12																	117603333		2203	4300	6503	SO:0001583	missense	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117603333A>C	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"F-boxes /  "other""	13592	protein-coding gene	gene with protein product		609095	"F-box only protein 21"			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1283T>G	12.37:g.117603333A>C	ENSP00000328187:p.Leu428Arg					FBXO21_ENST00000330622.5_Missense_Mutation_p.L428R	p.L428R	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	9	1357	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		428					B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	c.1283T>G	CCDS9184.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.767773	0.90020	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622;ENST00000548840	T;T	0.50001	0.78;0.76	6.08	6.08	0.98989	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.54549	0.1865	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;0.974;0.999;1.0	D;P;D;D	0.97110	0.998;0.571;0.996;1.0	T	0.47018	-0.9149	10	0.12766	T	0.61	-9.3825	16.6438	0.85155	1.0:0.0:0.0:0.0	.	284;178;428;428	Q8IUQ5;B3KQC8;O94952;O94952-1	.;.;FBX21_HUMAN;.	R	428;344;284;428;80	ENSP00000414468:L428R;ENSP00000328187:L428R	ENSP00000257563:L344R	L	-	2	0	FBXO21	116087716	1.000000	0.71417	0.964000	0.40570	0.996000	0.88848	8.953000	0.93041	2.333000	0.79357	0.533000	0.62120	CTC		0.502	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		24	55	0	0	0	1	0	24	55					C	117603333	A	C	117603333	3	2	498	1	0	0	0	0	1	0	0	0	5733	304	11	5	619	5	FBXO21	12	117603333	Missense_Mutation	SNP	A	TCGA-ZG-A9NI-01A-11D-A41K-08	4995170	117603333	16248562	70	33030											
OR11H6	122748	broad.mit.edu	37	chr14	20692478	20692478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgacccaggcccattgtttGcactggcctgcatctctgct	5	12	10	14	0	1	1	0	1	1	0	2	1	1	1	3	2	3	4	3	2	0	2			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr14:20692478G>A	ENST00000315519.2	+	1	688	c.610G>A	c.(610-612)Gca>Aca	p.A204T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CCCATTGTTTGCACTGGCCTG	0.488																																						ENST00000315519.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(610-612)Gca>Aca		olfactory receptor, family 11, subfamily H, member 6							114	106	109					14																	20692478		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692478G>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"GPCR / Class A : Olfactory receptors"	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.610G>A	14.37:g.20692478G>A	ENSP00000319071:p.Ala204Thr						p.A204T	NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	688	+	all_cancers(95;0.00108)		204					Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.610G>A	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038375	0.35989	.	.	ENSG00000176219	ENST00000315519	T	0.00069	8.77	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000082	T	0.00178	0.0005	L	0.39467	1.215	0.09310	N	0.999997	B	0.24823	0.112	B	0.33799	0.17	T	0.43909	-0.9362	10	0.36615	T	0.2	.	11.503	0.50448	0.0:0.1811:0.8189:0.0	.	204	Q8NGC7	O11H6_HUMAN	T	204	ENSP00000319071:A204T	ENSP00000319071:A204T	A	+	1	0	OR11H6	19762318	0.000000	0.05858	0.858000	0.33744	0.985000	0.73830	-1.290000	0.02777	2.592000	0.87571	0.471000	0.43371	GCA		0.488	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			14	37	0	0	0	1	0	14	37					A	20692478	G	A	20692478	3	1	498	1	0	0	0	0	1	0	0	0	10929	1319	46	3	612	3	OR11H6	14	20692478	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08		20692478	86657062	71	33031											
MYH6	4624	broad.mit.edu	37	chr14	23866242	23866242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcggatgccctccagcaCgccattgcagcgcagctggt	7	7	13	14	3	0	0	0	0	0	0	1	2	1	1	3	2	6	4	3	2	0	1			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr14:23866242C>T	ENST00000356287.3	-	17	2127	c.2098G>A	c.(2098-2100)Gtg>Atg	p.V700M	MYH6_ENST00000405093.3_Missense_Mutation_p.V700M			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	700	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			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)		CCCTCCAGCACGCCATTGCAG	0.617																																						ENST00000405093.3																			0				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						c.(2098-2100)Gtg>Atg		myosin, heavy chain 6, cardiac muscle, alpha							55	54	54					14																	23866242		2203	4300	6503	SO:0001583	missense	4624				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	g.chr14:23866242C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2098G>A	14.37:g.23866242C>T	ENSP00000348634:p.Val700Met					MYH6_ENST00000356287.3_Missense_Mutation_p.V700M	p.V700M	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	18	2168	-	all_cancers(95;2.54e-05)		700			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2098G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	24.8	4.567474	0.86439	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.75260	-0.92;-0.92	4.14	4.14	0.48551	Myosin head, motor domain (2);	.	.	.	.	D	0.86293	0.5898	M	0.80508	2.5	0.58432	D	0.999996	D	0.76494	0.999	D	0.72625	0.978	D	0.88870	0.3332	9	0.87932	D	0	.	16.9506	0.86244	0.0:1.0:0.0:0.0	.	700	P13533	MYH6_HUMAN	M	700	ENSP00000386041:V700M;ENSP00000348634:V700M	ENSP00000348634:V700M	V	-	1	0	MYH6	22936082	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.276000	0.78559	2.311000	0.77944	0.650000	0.86243	GTG		0.617	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			7	22	0	0	0	1	0	7	22					T	23866242	C	T	23866242	3	4	498	1	0	0	0	0	1	0	0	0	10038	536	19	1	3809	1	MYH6	14	23866242	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	3173764	23866242	83483298	72	33032											
FANCM	57697	broad.mit.edu	37	chr14	45645392	45645392	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttaatacagagttcgaCgatgtgagtctttcaccctt	10	14	9	8	2	2	2	1	1	1	1	3	5	2	2	1	0	1	2	1	0	2	5			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr14:45645392C>T	ENST00000267430.5	+	14	3520	c.3435C>T	c.(3433-3435)gaC>gaT	p.D1145D	FANCM_ENST00000542564.2_Silent_p.D1119D	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1145					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			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						CAGAGTTCGACGATGTGAGTC	0.388								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				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						c.(3433-3435)gaC>gaT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							102	109	106					14																	45645392		2203	4300	6503	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45645392C>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3435C>T	14.37:g.45645392C>T						FANCM_ENST00000542564.2_Silent_p.D1119D	p.D1145D	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			14	3520	+			1145					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.3435C>T	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.778416	0.00634	.	.	ENSG00000187790	ENST00000554809	.	.	.	5.16	-1.63	0.08345	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8972	0.24262	0.0:0.4857:0.1554:0.359	.	.	.	.	X	78	.	.	R	+	1	2	FANCM	44715142	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.108000	0.10857	-0.200000	0.10300	-0.312000	0.09012	CGA		0.388	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		30	61	0	0	0	1	0	30	61					T	45645392	C	T	45645392	2	4	498	1	0	0	0	0	0	0	0	1	5671	535	19	1		1	FANCM	14	45645392	Silent	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	21779150	45645392	61704148	73	33033											
KIAA0831	22863	broad.mit.edu	37	chr14	55848900	55848900	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactctctgaagacacatcTgcggggtctctacaagtagg	10	10	10	11	1	4	2	1	1	3	1	6	2	4	2	0	3	2	1	0	3	4	2			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr14:55848900T>A	ENST00000247178.5	-	6	692	c.657A>T	c.(655-657)gcA>gcT	p.A219A		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	219					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						AAGACACATCTGCGGGGTCTC	0.493																																						ENST00000247178.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(655-657)gcA>gcT		autophagy related 14							82	74	76					14																	55848900		2203	4300	6503	SO:0001819	synonymous_variant	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55848900T>A	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"Barkor", "beclin 1-associated autophagy-related key regulator"	613515	"KIAA0831", "ATG14 autophagy related 14 homolog (S. cerevisiae)"	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.657A>T	14.37:g.55848900T>A							p.A219A	NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN			6	692	-			219					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Silent	SNP	ENST00000247178.5	37	c.657A>T	CCDS32087.1																																																																																				0.493	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		17	46	0	0	0	1	0	17	46					A	55848900	T	A	55848900	2	1	498	1	0	0	0	0	0	0	0	1	8195	1567	55	5		5	KIAA0831	14	55848900	Silent	SNP	T	TCGA-ZG-A9NI-01A-11D-A41K-08	10203508	55848900	51500640	74	33034											
SLC8A3	6547	broad.mit.edu	37	chr14	70634287	70634287	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttcccatccatctcaaTgcccttagggtggtcaccct	7	13	6	15	0	2	0	2	0	1	0	5	0	4	0	4	2	1	0	4	2	2	3	rs143972110	byFrequency	TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr14:70634287T>A	ENST00000381269.2	-	2	1606	c.853A>T	c.(853-855)Att>Ttt	p.I285F	SLC8A3_ENST00000356921.2_Missense_Mutation_p.I285F|SLC8A3_ENST00000357887.3_Missense_Mutation_p.I285F|SLC8A3_ENST00000528359.1_Missense_Mutation_p.I285F|SLC8A3_ENST00000534137.1_Missense_Mutation_p.I285F	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	285					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCCATCTCAATGCCCTTAGGG	0.473																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(853-855)Att>Ttt		solute carrier family 8 (sodium/calcium exchanger), member 3							140	126	131					14																	70634287		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634287T>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.853A>T	14.37:g.70634287T>A	ENSP00000370669:p.Ile285Phe					SLC8A3_ENST00000534137.1_Missense_Mutation_p.I285F|SLC8A3_ENST00000528359.1_Missense_Mutation_p.I285F|SLC8A3_ENST00000357887.3_Missense_Mutation_p.I285F|SLC8A3_ENST00000356921.2_Missense_Mutation_p.I285F	p.I285F	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	1606	-			285					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.853A>T	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.386961	0.61956	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.37235	1.29;1.21;1.35;1.29;1.35	5.71	5.71	0.89125	.	0.053568	0.85682	N	0.000000	T	0.61388	0.2343	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.71674	0.998;0.996;0.968;0.983	D;D;D;D	0.70935	0.962;0.917;0.971;0.971	T	0.64647	-0.6358	10	0.54805	T	0.06	.	15.9916	0.80208	0.0:0.0:0.0:1.0	.	285;285;285;285	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	F	285	ENSP00000349392:I285F;ENSP00000370669:I285F;ENSP00000350560:I285F;ENSP00000436688:I285F;ENSP00000433531:I285F	ENSP00000349392:I285F	I	-	1	0	SLC8A3	69704040	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.033000	0.88852	2.168000	0.68352	0.459000	0.35465	ATT		0.473	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			7	45	0	0	0	1	0	7	45					A	70634287	T	A	70634287	3	1	498	1	0	0	0	0	1	0	0	0	14708	1464	51	5	2069	5	SLC8A3	14	70634287	Missense_Mutation	SNP	T	TCGA-ZG-A9NI-01A-11D-A41K-08	14785387	70634287	36715253	75	33035											
RGS6	9628	broad.mit.edu	37	chr14	73029174	73029174	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcctgatgcagtcctcctGaccgttcctaccgcaggtcc	5	9	11	16	2	0	2	0	2	0	0	4	2	4	2	7	2	2	3	7	2	1	2			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr14:73029174G>C	ENST00000553530.1	+	17	1625	c.1418G>C	c.(1417-1419)tGa>tCa	p.*473S	RGS6_ENST00000343854.6_Nonstop_Mutation_p.*454S|RGS6_ENST00000555571.1_Nonstop_Mutation_p.*473S|RGS6_ENST00000553525.1_Nonstop_Mutation_p.*491S|RGS6_ENST00000556437.1_Nonstop_Mutation_p.*491S|RGS6_ENST00000554782.1_Intron|RGS6_ENST00000402788.2_Nonstop_Mutation_p.*473S|RP3-514A23.2_ENST00000555303.1_lincRNA	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	0					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAGTCCTCCTGACCGTTCCTA	0.667																																					Ovarian(143;1926 2468 21071 48641)	ENST00000553530.1																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1417-1419)tGa>tCa		regulator of G-protein signaling 6							41	43	42					14																	73029174		2203	4300	6503	SO:0001578	stop_lost	9628				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	g.chr14:73029174G>C	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.1418G>C	14.37:g.73029174G>C	ENSP00000452331:p.*473Serext*36					RGS6_ENST00000554782.1_Intron|RP3-514A23.2_ENST00000555303.1_lincRNA|RGS6_ENST00000555571.1_Nonstop_Mutation_p.*473S|RGS6_ENST00000556437.1_Nonstop_Mutation_p.*491S|RGS6_ENST00000402788.2_Nonstop_Mutation_p.*473S|RGS6_ENST00000343854.6_Nonstop_Mutation_p.*454S|RGS6_ENST00000553525.1_Nonstop_Mutation_p.*491S	p.*473S	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN		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)	17	1625	+			0					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Nonstop_Mutation	SNP	ENST00000553530.1	37	c.1418G>C	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112040	0.94339	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000402788;ENST00000343854	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.20489	N	0.999891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.218	0.82241	0.0:0.0:1.0:0.0	.	.	.	.	S	491;473;473;491;473;454	.	.	X	+	2	2	RGS6	72098927	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	5.778000	0.68940	2.566000	0.86566	0.561000	0.74099	TGA		0.667	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			6	25	0	0	0	1	0	6	25					C	73029174	G	C	73029174	4	2	498	1	0	0	0	0	0	0	0	0	13309	1285	45	5	1480	5	RGS6	14	73029174	Nonstop_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	2394887	73029174	34320366	76	33036											
NRXN3	9369	broad.mit.edu	37	chr14	79175953	79175953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactcagaagaaagccaatGatggggaatggtaccatgtg	14	7	12	8	0	1	3	1	1	0	2	1	4	1	4	3	3	2	1	3	3	5	1			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr14:79175953G>T	ENST00000554719.1	+	4	987	c.496G>T	c.(496-498)Gat>Tat	p.D166Y	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.D166Y	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	170	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAAAGCCAATGATGGGGAATG	0.502																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(496-498)Gat>Tat		neurexin 3							120	124	123					14																	79175953		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79175953G>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.496G>T	14.37:g.79175953G>T	ENSP00000451648:p.Asp166Tyr					RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.D166Y	p.D166Y	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	987	+		Renal(4;0.00876)	170			Laminin G-like.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.496G>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260183	0.80246	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557081	D;D;D	0.86694	-2.04;-2.04;-2.16	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.95872	0.8656	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.979;0.984	D	0.97092	0.9791	9	.	.	.	.	19.1251	0.93380	0.0:0.0:1.0:0.0	.	539;166	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	Y	539;537;166;166;110	ENSP00000451648:D166Y;ENSP00000338349:D166Y;ENSP00000450462:D110Y	.	D	+	1	0	NRXN3	78245706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.518000	0.84900	0.563000	0.77884	GAT		0.502	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		16	49	1	0	0.000566183	1	0.00065027	16	49					T	79175953	G	T	79175953	3	4	498	1	0	0	0	0	1	0	0	0	10667	1290	45	5	502	5	NRXN3	14	79175953	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	6146779	79175953	28173587	77	33037											
IGDCC4	57722	broad.mit.edu	37	chr15	65703655	65703655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccaggatcacttgcagtgGccccactccacagctcagct	8	7	9	17	0	2	0	2	0	0	0	3	1	3	1	4	2	3	3	4	2	0	1			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr15:65703655G>T	ENST00000352385.2	-	2	333	c.124C>A	c.(124-126)Cca>Aca	p.P42T		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	42	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						ACTTGCAGTGGCCCCACTCCA	0.647																																						ENST00000352385.2																			0				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						c.(124-126)Cca>Aca		immunoglobulin superfamily, DCC subclass, member 4							37	36	36					15																	65703655		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65703655G>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.124C>A	15.37:g.65703655G>T	ENSP00000319623:p.Pro42Thr						p.P42T	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			2	333	-			42			Ig-like C2-type 1.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.124C>A	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089513	0.55968	.	.	ENSG00000103742	ENST00000352385	T	0.67523	-0.27	5.19	5.19	0.71726	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.066369	0.64402	D	0.000010	D	0.85309	0.5667	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.88493	0.3077	10	0.66056	D	0.02	-13.7141	16.5052	0.84270	0.0:0.0:1.0:0.0	.	42	Q8TDY8	IGDC4_HUMAN	T	42	ENSP00000319623:P42T	ENSP00000319623:P42T	P	-	1	0	IGDCC4	63490708	1.000000	0.71417	0.981000	0.43875	0.030000	0.12068	8.149000	0.89632	2.415000	0.81967	0.563000	0.77884	CCA		0.647	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		5	15	1	0	0.217242	1	0.217242	5	15					T	65703655	G	T	65703655	3	4	498	1	0	0	0	0	1	0	0	0	7569	1203	42	5	3704	5	IGDCC4	15	65703655	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08		65703655	36827737	78	33038											
DET1	55070	broad.mit.edu	37	chr15	89074818	89074818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacattctgatggaacactCggacttggtgccagtgggta	10	10	13	8	1	1	2	0	1	1	1	2	4	1	4	1	4	2	1	1	4	2	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr15:89074818C>T	ENST00000268148.8	-	2	264	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	DET1_ENST00000444300.1_Missense_Mutation_p.R51Q|DET1_ENST00000559656.1_5'Flank|DET1_ENST00000558413.1_Intron|DET1_ENST00000564406.1_Missense_Mutation_p.R51Q	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	40						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ATGGAACACTCGGACTTGGTG	0.483																																						ENST00000564406.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(151-153)cGa>cAa		de-etiolated homolog 1 (Arabidopsis)							159	157	158					15																	89074818		2002	4180	6182	SO:0001583	missense	55070					nucleus		g.chr15:89074818C>T	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.119G>A	15.37:g.89074818C>T	ENSP00000268148:p.Arg40Gln					DET1_ENST00000444300.1_Missense_Mutation_p.R51Q|DET1_ENST00000558413.1_Intron|DET1_ENST00000268148.8_Missense_Mutation_p.R40Q	p.R51Q	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		3	312	-	Lung NSC(78;0.105)|all_lung(78;0.182)		40					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.152G>A	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099822	0.94197	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.83894	0.5353	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67103	0.949;0.949	D	0.85423	0.1144	9	0.72032	D	0.01	-19.2393	19.2867	0.94077	0.0:1.0:0.0:0.0	.	40;51	Q7L5Y6;B3KNN6	DET1_HUMAN;.	Q	51;40	.	ENSP00000268148:R40Q	R	-	2	0	DET1	86875822	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	7.002000	0.76304	2.793000	0.96121	0.655000	0.94253	CGA		0.483	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		11	61	0	0	0	1	0	11	61					T	89074818	C	T	89074818	3	4	498	1	0	0	0	0	1	0	0	0	4450	884	31	2	1549	2	DET1	15	89074818	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	23371163	89074818	13456574	79	33039											
ERI2	112479	broad.mit.edu	37	chr16	20814811	20814811	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcatgtcgattcaaaatcaAtgacaattaagtagtcaaac	18	10	6	7	1	3	1	3	1	0	0	4	2	3	1	0	0	2	2	0	0	7	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr16:20814811A>G	ENST00000357967.4	-	3	161	c.119T>C	c.(118-120)aTt>aCt	p.I40T	ERI2_ENST00000300005.3_Missense_Mutation_p.I40T|ERI2_ENST00000568251.1_5'Flank|ERI2_ENST00000564349.1_5'UTR|ERI2_ENST00000569729.1_Missense_Mutation_p.I40T|ERI2_ENST00000563117.1_5'UTR|ERI2_ENST00000389345.5_5'UTR	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	40	Exonuclease.						exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						TTCAAAATCAATGACAATTAA	0.408																																						ENST00000357967.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						c.(118-120)aTt>aCt		ERI1 exoribonuclease family member 2							86	71	76					16																	20814811		2201	4300	6501	SO:0001583	missense	112479					intracellular	exonuclease activity|nucleic acid binding|zinc ion binding	g.chr16:20814811A>G	BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"Enhanced RNAi three prime mRNA exonucleases"	30541	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)", "exoribonuclease 2", "zinc finger, GRF-type containing 5"		"exonuclease domain containing 1"	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.119T>C	16.37:g.20814811A>G	ENSP00000350651:p.Ile40Thr					ERI2_ENST00000564349.1_5'UTR|ERI2_ENST00000563117.1_5'UTR|ERI2_ENST00000300005.3_Missense_Mutation_p.I40T|ERI2_ENST00000569729.1_Missense_Mutation_p.I40T|ERI2_ENST00000389345.5_5'UTR	p.I40T	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN			3	161	-			40			Exonuclease.		Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	ENST00000357967.4	37	c.119T>C	CCDS45436.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032492	0.75504	.	.	ENSG00000196678	ENST00000300005;ENST00000357967	T;T	0.30182	1.54;1.54	5.76	4.67	0.58626	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.103397	0.64402	D	0.000006	T	0.55226	0.1907	M	0.87456	2.885	0.80722	D	1	D;D;D	0.64830	0.993;0.992;0.994	P;P;P	0.61070	0.883;0.676;0.79	T	0.61671	-0.7015	10	0.87932	D	0	-17.644	10.9689	0.47428	0.9256:0.0:0.0744:0.0	.	40;40;40	A8K979;A8K979-3;A8K979-4	ERI2_HUMAN;.;.	T	40	ENSP00000300005:I40T;ENSP00000350651:I40T	ENSP00000300005:I40T	I	-	2	0	ERI2	20722312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.029000	0.76477	1.006000	0.39211	0.533000	0.62120	ATT		0.408	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_080663		22	35	0	0	0	1	0	22	35					G	20814811	A	G	20814811	3	3	498	1	0	0	0	0	1	0	0	0	5228	101	4	4	2251	4	ERI2	16	20814811	Missense_Mutation	SNP	A	TCGA-ZG-A9NI-01A-11D-A41K-08		20814811	69539942	80	33040											
CDH8	1006	broad.mit.edu	37	chr16	61689558	61689558	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatcactgattatgattggTaaaagatagacttcttgctt	12	16	7	6	0	2	4	1	2	1	2	2	4	2	4	0	1	1	2	0	1	5	8			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr16:61689558T>C	ENST00000577390.1	-	11	2676	c.1722A>G	c.(1720-1722)ttA>ttG	p.L574L	CDH8_ENST00000299345.6_Silent_p.L574L|CDH8_ENST00000577730.1_Silent_p.L574L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	574	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			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)		TTATGATTGGTAAAAGATAGA	0.408																																						ENST00000577390.1																			0				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						c.(1720-1722)ttA>ttG		cadherin 8, type 2							140	128	132					16																	61689558		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61689558T>C	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1722A>G	16.37:g.61689558T>C						CDH8_ENST00000577730.1_Silent_p.L574L|CDH8_ENST00000299345.6_Silent_p.L574L	p.L574L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		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)	11	2676	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	574			Cadherin 5.		B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.1722A>G	CCDS10802.1																																																																																				0.408	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		8	39	0	0	0	1	0	8	39					C	61689558	T	C	61689558	2	2	498	1	0	0	0	0	0	0	0	1	3116	1635	57	4		4	CDH8	16	61689558	Silent	SNP	T	TCGA-ZG-A9NI-01A-11D-A41K-08	40874747	61689558	28665195	81	33041											
NQO1	1728	broad.mit.edu	37	chr16	69745151	69745151	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatgtcagttgaggttctaAgacttggaagccacagaaat	14	11	10	6	0	2	3	1	1	1	2	2	4	2	4	1	2	1	2	1	2	4	5			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr16:69745151A>T	ENST00000320623.5	-	6	1064	c.553T>A	c.(553-555)Tta>Ata	p.L185I	CTD-2033A16.1_ENST00000562696.1_RNA|NQO1_ENST00000561500.1_Missense_Mutation_p.L147I|snoU13_ENST00000459361.1_RNA|NQO1_ENST00000439109.2_Missense_Mutation_p.L113I|NQO1_ENST00000564043.1_Missense_Mutation_p.L164I|NQO1_ENST00000379046.2_Missense_Mutation_p.L147I|NQO1_ENST00000379047.3_Missense_Mutation_p.L151I	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	185					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	TGAGGTTCTAAGACTTGGAAG	0.448																																						ENST00000320623.5																			0				autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10						c.(553-555)Tta>Ata		NAD(P)H dehydrogenase, quinone 1	Dicumarol(DB00266)|Menadione(DB00170)						146	152	150					16																	69745151		2198	4300	6498	SO:0001583	missense	1728				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	g.chr16:69745151A>T	M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.553T>A	16.37:g.69745151A>T	ENSP00000319788:p.Leu185Ile					NQO1_ENST00000379047.3_Missense_Mutation_p.L151I|NQO1_ENST00000561500.1_Missense_Mutation_p.L147I|NQO1_ENST00000564043.1_Missense_Mutation_p.L164I|NQO1_ENST00000379046.2_Missense_Mutation_p.L147I|NQO1_ENST00000439109.2_Missense_Mutation_p.L113I	p.L185I	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN			6	1064	-			185					B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Missense_Mutation	SNP	ENST00000320623.5	37	c.553T>A	CCDS10883.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300978	0.81136	.	.	ENSG00000181019	ENST00000320623;ENST00000379047;ENST00000379046;ENST00000439109	T;T;T;T	0.11930	2.73;3.01;3.01;3.01	5.41	1.89	0.25635	Flavodoxin-like fold (1);	0.075691	0.52532	D	0.000073	T	0.31482	0.0798	M	0.74881	2.28	0.49798	D	0.999829	D;D;D;D	0.89917	0.998;1.0;0.999;0.991	D;D;D;D	0.91635	0.994;0.999;0.967;0.998	T	0.00970	-1.1496	10	0.38643	T	0.18	-11.1467	8.5654	0.33536	0.5624:0.0:0.4376:0.0	.	113;147;151;185	B4DLR8;B4DNM7;B7ZAD1;P15559	.;.;.;NQO1_HUMAN	I	185;151;147;113	ENSP00000319788:L185I;ENSP00000368335:L151I;ENSP00000368334:L147I;ENSP00000398330:L113I	ENSP00000319788:L185I	L	-	1	2	NQO1	68302652	0.999000	0.42202	0.997000	0.53966	0.997000	0.91878	0.703000	0.25646	0.113000	0.18004	0.533000	0.62120	TTA		0.448	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2			20	167	0	0	0	1	0	20	167					T	69745151	A	T	69745151	3	4	498	1	0	0	0	0	1	0	0	0	10611	69	3	5	275	5	NQO1	16	69745151	Missense_Mutation	SNP	A	TCGA-ZG-A9NI-01A-11D-A41K-08	8055593	69745151	20609602	82	33042											
KIF1C	10749	broad.mit.edu	37	chr17	4927385	4927385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaccccccatacactactcCcccacgaatgagacggcagc	11	5	6	19	2	0	1	0	1	0	1	1	3	1	1	5	1	4	1	5	1	4	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr17:4927385C>T	ENST00000320785.5	+	23	3608	c.3251C>T	c.(3250-3252)cCc>cTc	p.P1084L		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	1084	Pro-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TACACTACTCCCCCACGAATG	0.652																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(3250-3252)cCc>cTc		kinesin family member 1C							42	48	46					17																	4927385		2200	4292	6492	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4927385C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.3251C>T	17.37:g.4927385C>T	ENSP00000320821:p.Pro1084Leu						p.P1084L	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			23	3608	+			1084			Pro-rich.		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.3251C>T	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650528	0.87958	.	.	ENSG00000129250	ENST00000320785	T	0.78246	-1.16	5.04	5.04	0.67666	.	.	.	.	.	D	0.82426	0.5034	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.84350	0.0532	9	0.87932	D	0	.	15.9191	0.79547	0.0:1.0:0.0:0.0	.	1084	O43896	KIF1C_HUMAN	L	1084	ENSP00000320821:P1084L	ENSP00000320821:P1084L	P	+	2	0	KIF1C	4868109	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	5.376000	0.66178	2.609000	0.88269	0.655000	0.94253	CCC		0.652	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			12	22	0	0	0	1	0	12	22					T	4927385	C	T	4927385	3	4	498	1	0	0	0	0	1	0	0	0	8285	623	22	3	3333	3	KIF1C	17	4927385	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08		4927385	76267825	83	33043											
SPEM1	374768	broad.mit.edu	37	chr17	7324689	7324689	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtgccagaggcagaggCggctcagtaccagcctgtcc	7	5	16	13	2	1	2	1	0	0	2	2	2	2	2	4	5	3	3	4	5	1	1	rs371446830		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr17:7324689C>A	ENST00000323675.3	+	3	720	c.695C>A	c.(694-696)gCg>gAg	p.A232E	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	232					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				GAGGCAGAGGCGGCTCAGTAC	0.647																																						ENST00000323675.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12						c.(694-696)gCg>gAg		spermatid maturation 1							25	30	29					17																	7324689		1983	4132	6115	SO:0001583	missense	374768				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		g.chr17:7324689C>A	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"chromosome 17 open reading frame 83"	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.695C>A	17.37:g.7324689C>A	ENSP00000315554:p.Ala232Glu					RP11-104H15.7_ENST00000575310.1_RNA	p.A232E	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN			3	720	+		Prostate(122;0.173)	232						Missense_Mutation	SNP	ENST00000323675.3	37	c.695C>A	CCDS42254.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339673	0.24339	.	.	ENSG00000181323	ENST00000323675	.	.	.	4.8	-6.0	0.02206	.	2.586560	0.01618	N	0.022881	T	0.24198	0.0586	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.10132	-1.0643	9	0.29301	T	0.29	0.5794	5.2798	0.15668	0.4713:0.1809:0.0:0.3478	.	232	Q8N4L4	SPEM1_HUMAN	E	232	.	ENSP00000315554:A232E	A	+	2	0	SPEM1	7265413	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.803000	0.00759	-1.000000	0.03438	-0.749000	0.03505	GCG		0.647	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		9	20	1	0	0.00621372	1	0.00655265	9	20					A	7324689	C	A	7324689	3	1	498	1	0	0	0	0	1	0	0	0	15036	768	27	5	705	5	SPEM1	17	7324689	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	2397304	7324689	73870521	84	33044											
CLTC	1213	broad.mit.edu	37	chr17	57754537	57754537	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtggccaatgtgatctGgaacttattaatgtgagtac	12	12	11	6	1	1	2	0	2	1	0	1	4	1	3	1	2	3	1	1	2	6	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr17:57754537G>T	ENST00000269122.3	+	17	3058	c.2784G>T	c.(2782-2784)ctG>ctT	p.L928L	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Silent_p.L928L	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	928	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AATGTGATCTGGAACTTATTA	0.398			T	"ALK, TFE3"	"ALCL, renal "																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"clathrin, heavy polypeptide (Hc)"			L	"ALK, TFE3"		"ALCL, renal "	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(2782-2784)ctG>ctT		clathrin, heavy chain (Hc)							84	80	81					17																	57754537		2203	4300	6503	SO:0001819	synonymous_variant	1213				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	g.chr17:57754537G>T	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2784G>T	17.37:g.57754537G>T						CLTC_ENST00000393043.1_Silent_p.L928L|CLTC_ENST00000579456.1_Intron	p.L928L	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			17	3058	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		928			Heavy chain arm.|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Silent	SNP	ENST00000269122.3	37	c.2784G>T	CCDS32696.1																																																																																				0.398	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		6	46	1	0	0.00198382	1	0.00217097	6	46					T	57754537	G	T	57754537	2	4	498	1	0	0	0	0	0	0	0	1	3566	1335	47	5		5	CLTC	17	57754537	Silent	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	50429848	57754537	23440673	85	33045											
AATK	9625	broad.mit.edu	37	chr17	79092217	79092217	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtctcaagcctctttactCtcacccccggcaccagcttc	7	10	6	18	1	3	0	2	0	3	0	6	0	3	0	4	2	3	2	4	2	2	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr17:79092217C>G	ENST00000326724.4	-	14	4134	c.4110G>C	c.(4108-4110)gaG>gaC	p.E1370D	AATK_ENST00000417379.1_Missense_Mutation_p.E1267D	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1370					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCTCTTTACTCTCACCCCCGG	0.647																																						ENST00000326724.4																			0				endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21						c.(4108-4110)gaG>gaC		apoptosis-associated tyrosine kinase							27	35	32					17																	79092217		2003	4156	6159	SO:0001583	missense	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79092217C>G	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.4110G>C	17.37:g.79092217C>G	ENSP00000324196:p.Glu1370Asp					AATK_ENST00000417379.1_Missense_Mutation_p.E1267D	p.E1370D	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		14	4134	-	all_neural(118;0.101)		1370					O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	c.4110G>C	CCDS45807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.843|8.843	0.942633|0.942633	0.18281|0.18281	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000326724|ENST00000417379	T|.	0.77229|.	-1.08|.	3.65|3.65	-2.9|-2.9	0.05648|0.05648	.|.	3.473090|.	0.01205|.	N|.	0.007694|.	T|T	0.26991|0.26991	0.0661|0.0661	N|N	0.21448|0.21448	0.665|0.665	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.31392|0.31392	-0.9945|-0.9945	10|5	0.56958|.	D|.	0.05|.	.|.	8.9717|8.9717	0.35910|0.35910	0.0:0.3307:0.5526:0.1167|0.0:0.3307:0.5526:0.1167	.|.	1370|.	Q6ZMQ8|.	LMTK1_HUMAN|.	D|T	1370|1323	ENSP00000324196:E1370D|.	ENSP00000324196:E1370D|.	E|R	-|-	3|2	2|0	AATK|AATK	76706812|76706812	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-1.186000|-1.186000	0.03070|0.03070	-0.648000|-0.648000	0.05437|0.05437	-0.133000|-0.133000	0.14855|0.14855	GAG|AGA		0.647	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		5	8	0	0	0	1	0	5	8					G	79092217	C	G	79092217	3	3	498	1	0	0	0	0	1	0	0	0	26	912	32	5	18	5	AATK	17	79092217	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	21337680	79092217	2102993	86	33046											
NFATC1	4772	broad.mit.edu	37	chr18	77170782	77170782	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcctacagagacccctcGtgcctgagcccggccagcag	8	4	13	16	2	0	2	0	1	0	1	1	4	0	2	6	2	4	1	6	2	1	1	rs146706357		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr18:77170782G>A	ENST00000427363.2	+	2	507	c.507G>A	c.(505-507)tcG>tcA	p.S169S	NFATC1_ENST00000586434.1_Silent_p.S156S|NFATC1_ENST00000253506.5_Silent_p.S169S|NFATC1_ENST00000587635.1_Silent_p.S169S|NFATC1_ENST00000592223.1_Silent_p.S156S|NFATC1_ENST00000542384.1_Silent_p.S169S|NFATC1_ENST00000591814.1_Silent_p.S169S|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000329101.4_Silent_p.S156S|NFATC1_ENST00000318065.5_Silent_p.S156S			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	169	Trans-activation domain A (TAD-A).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GAGACCCCTCGTGCCTGAGCC	0.657																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(505-507)tcG>tcA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1		G	,,,,	2,4404	2.1+/-5.4	0,2,2201	38	40	39		507,468,,468,507	-8.9	0.2	18	dbSNP_134	39	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	,,,,	0,3,6499	AA,AG,GG		0.0116,0.0454,0.0231	,,,,	169/826,156/931,,156/813,169/717	77170782	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	4772				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	g.chr18:77170782G>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.507G>A	18.37:g.77170782G>A						NFATC1_ENST00000587635.1_Silent_p.S169S|NFATC1_ENST00000329101.4_Silent_p.S156S|NFATC1_ENST00000591814.1_Silent_p.S169S|NFATC1_ENST00000592223.1_Silent_p.S156S|NFATC1_ENST00000586434.1_Silent_p.S156S|NFATC1_ENST00000542384.1_Silent_p.S169S|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Silent_p.S156S|NFATC1_ENST00000427363.2_Silent_p.S169S	p.S169S	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	876	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	169			Trans-activation domain A (TAD-A).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.507G>A																																																																																					0.657	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		10	32	0	0	0	1	0	10	32					A	77170782	G	A	77170782	2	1	498	1	0	0	0	0	0	0	0	1	10361	1132	40	1		1	NFATC1	18	77170782	Silent	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08		77170782	906466	87	33047											
KIRREL2	84063	broad.mit.edu	37	chr19	36348367	36348367	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtggactaagagtgggcTggccctagggggccaaaggg	9	6	18	8	0	1	1	1	0	0	1	1	2	1	2	2	6	0	1	2	6	3	2			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr19:36348367T>A	ENST00000360202.5	+	2	380	c.182T>A	c.(181-183)cTg>cAg	p.L61Q	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.L61Q|KIRREL2_ENST00000262625.7_Missense_Mutation_p.L61Q|KIRREL2_ENST00000347900.6_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	61	Ig-like C2-type 1.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				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)			AAGAGTGGGCTGGCCCTAGGG	0.652																																						ENST00000360202.5																			0				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						c.(181-183)cTg>cAg		kin of IRRE like 2 (Drosophila)							45	53	50					19																	36348367		2203	4299	6502	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36348367T>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.182T>A	19.37:g.36348367T>A	ENSP00000353331:p.Leu61Gln					KIRREL2_ENST00000262625.7_Missense_Mutation_p.L61Q|KIRREL2_ENST00000586102.2_Missense_Mutation_p.L61Q|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.L61Q|NPHS1_ENST00000591817.1_Intron	p.L61Q	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	380	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		61			Ig-like C2-type 1.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.182T>A	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683224	0.88542	.	.	ENSG00000126259	ENST00000262625;ENST00000360202;ENST00000341658	T;T	0.64260	-0.09;-0.09	5.35	5.35	0.76521	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37483	N	0.002062	T	0.76090	0.3939	M	0.67625	2.065	0.42095	D	0.991315	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.79067	-0.1955	10	0.87932	D	0	-11.5846	12.0611	0.53562	0.0:0.0:0.0:1.0	.	61;61;61	F1T0I2;Q6UWL6;Q6UWL6-2	.;KIRR2_HUMAN;.	Q	61	ENSP00000262625:L61Q;ENSP00000353331:L61Q	ENSP00000262625:L61Q	L	+	2	0	KIRREL2	41040207	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.417000	0.73337	2.159000	0.67721	0.529000	0.55759	CTG		0.652	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		16	58	0	0	0	1	0	16	58					A	36348367	T	A	36348367	3	1	498	1	0	0	0	0	1	0	0	0	8325	1580	55	5	188	5	KIRREL2	19	36348367	Missense_Mutation	SNP	T	TCGA-ZG-A9NI-01A-11D-A41K-08		36348367	22780616	88	33048											
AXL	558	broad.mit.edu	37	chr19	41745622	41745622	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcacagccagtccaccagCtgggtaagggcttccacacc	11	5	10	15	0	0	0	0	0	0	0	2	0	2	0	5	2	3	4	5	2	2	2			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr19:41745622C>T	ENST00000301178.4	+	10	1499	c.1309C>T	c.(1309-1311)Ctg>Ttg	p.L437L	AXL_ENST00000593513.1_Silent_p.L169L|AXL_ENST00000359092.3_Intron	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	437					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			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						AGTCCACCAGCTGGGTAAGGG	0.552																																						ENST00000301178.4																			0				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						c.(1309-1311)Ctg>Ttg		AXL receptor tyrosine kinase							283	232	249					19																	41745622		2203	4300	6503	SO:0001819	synonymous_variant	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41745622C>T	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1309C>T	19.37:g.41745622C>T						AXL_ENST00000593513.1_Silent_p.L169L|AXL_ENST00000359092.3_Intron	p.L437L	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			10	1499	+			437					Q8N5L2|Q9UD27	Silent	SNP	ENST00000301178.4	37	c.1309C>T	CCDS12575.1																																																																																				0.552	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			17	116	0	0	0	1	0	17	116					T	41745622	C	T	41745622	2	4	498	1	0	0	0	0	0	0	0	1	1238	796	28	3		3	AXL	19	41745622	Silent	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	5397255	41745622	17383361	89	33049											
ZSCAN4	201516	broad.mit.edu	37	chr19	58190197	58190197	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gacaagctaccgccagtcatCcacataccaccgccatatga	13	6	6	16	2	1	1	1	1	0	0	2	2	2	1	6	0	3	1	6	0	4	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr19:58190197C>G	ENST00000318203.5	+	5	1923	c.1226C>G	c.(1225-1227)tCc>tGc	p.S409C		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	409					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGCCAGTCATCCACATACCAC	0.473																																						ENST00000318203.5																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30						c.(1225-1227)tCc>tGc		zinc finger and SCAN domain containing 4							75	79	78					19																	58190197		2203	4300	6503	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58190197C>G	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"-", "Zinc fingers, C2H2-type"	23709	protein-coding gene	gene with protein product		613419	"zinc finger protein 494"	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.1226C>G	19.37:g.58190197C>G	ENSP00000321963:p.Ser409Cys						p.S409C	NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1923	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	409					Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.1226C>G	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977770	0.53720	.	.	ENSG00000180532	ENST00000318203	T	0.08282	3.11	4.32	4.32	0.51571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.135390	0.34802	N	0.003674	T	0.21801	0.0525	L	0.51914	1.62	0.22435	N	0.999109	D	0.89917	1.0	D	0.87578	0.998	T	0.00787	-1.1566	10	0.72032	D	0.01	-24.6577	12.6291	0.56646	0.0:1.0:0.0:0.0	.	409	Q8NAM6	ZSCA4_HUMAN	C	409	ENSP00000321963:S409C	ENSP00000321963:S409C	S	+	2	0	ZSCAN4	62882009	0.001000	0.12720	0.996000	0.52242	0.851000	0.48451	0.441000	0.21611	2.699000	0.92147	0.650000	0.86243	TCC		0.473	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		25	71	0	0	0	1	0	25	71					G	58190197	C	G	58190197	3	3	498	1	0	0	0	0	1	0	0	0	18234	855	30	5	1236	5	ZSCAN4	19	58190197	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	16444575	58190197	938786	90	33050											
RALGAPA2	57186	broad.mit.edu	37	chr20	20517346	20517346	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatttacttctggcactGactgcagtaaaggaatctcc	10	12	7	12	0	3	1	1	1	2	0	4	2	3	2	2	2	2	3	2	2	4	4			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr20:20517346G>T	ENST00000202677.7	-	25	3375	c.3368C>A	c.(3367-3369)tCa>tAa	p.S1123*		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1123					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			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						TTCTGGCACTGACTGCAGTAA	0.443																																						ENST00000202677.6																			0				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						c.(3367-3369)tCa>tAa		Ral GTPase activating protein, alpha subunit 2 (catalytic)							68	72	71					20																	20517346		1916	4129	6045	SO:0001587	stop_gained	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20517346G>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.3368C>A	20.37:g.20517346G>T	ENSP00000202677:p.Ser1123*						p.S1123*	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			25	3510	-			1123					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Nonsense_Mutation	SNP	ENST00000202677.7	37	c.3368C>A	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.375417|7.375417	0.98245|0.98245	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	.|.	.|.	.|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.427385	.|0.24843	.|N	.|0.035159	T|.	0.73583|.	0.3605|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.68390|.	-0.5421|.	3|.	.|0.30078	.|T	.|0.28	.|.	19.6888|19.6888	0.95989|0.95989	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	940|1123	.|.	.|ENSP00000202677:S1123X	Q|S	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20465346|20465346	1.000000|1.000000	0.71417|0.71417	0.196000|0.196000	0.23383|0.23383	0.035000|0.035000	0.12851|0.12851	4.256000|4.256000	0.58810|0.58810	2.661000|2.661000	0.90470|0.90470	0.557000|0.557000	0.71058|0.71058	CAG|TCA		0.443	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		5	8	1	0	0.0293803	1	0.0298958	5	8					T	20517346	G	T	20517346	4	4	498	1	0	0	0	0	0	1	0	0	13014	1294	45	5	2313	5	RALGAPA2	20	20517346	Nonsense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08		20517346	42508174	91	33051											
SULF2	55959	broad.mit.edu	37	chr20	46313221	46313221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtctgcaagcgcttcCgctggagcatgttggtgaat	7	11	15	8	2	1	2	0	2	1	0	2	3	2	3	1	3	3	5	1	3	2	2	rs116302994		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr20:46313221C>T	ENST00000359930.4	-	6	1693	c.842G>A	c.(841-843)cGg>cAg	p.R281Q	CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000484875.1_Missense_Mutation_p.R281Q|SULF2_ENST00000361612.4_Missense_Mutation_p.R281Q|SULF2_ENST00000467815.1_Missense_Mutation_p.R281Q	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	281					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			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						CAAGCGCTTCCGCTGGAGCAT	0.627													C|||	1	0.000199681	0	0	5008	,	,		18284	0		0.001	False		,,,				2504	0					ENST00000359930.4																			0				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						c.(841-843)cGg>cAg		sulfatase 2		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	126	94	105		842,842,842	4.8	1	20	dbSNP_132	105	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	SULF2	NM_001161841.1,NM_018837.3,NM_198596.2	43,43,43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	281/871,281/871,281/868	46313221	3,13003	2203	4300	6503	SO:0001583	missense	55959				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	g.chr20:46313221C>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.842G>A	20.37:g.46313221C>T	ENSP00000353007:p.Arg281Gln					SULF2_ENST00000484875.1_Missense_Mutation_p.R281Q|SULF2_ENST00000467815.1_Missense_Mutation_p.R281Q|SULF2_ENST00000361612.4_Missense_Mutation_p.R281Q|CTD-2653D5.1_ENST00000526566.2_RNA	p.R281Q	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			6	1693	-			281					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.842G>A	CCDS13408.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	20.9	4.066014	0.76187	0.0	3.49E-4	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07	4.76	4.76	0.60689	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.93648	0.7971	M	0.61703	1.905	0.50813	D	0.999891	B;B	0.34103	0.437;0.203	B;B	0.25759	0.063;0.036	D	0.92648	0.6130	10	0.41790	T	0.15	-21.3566	12.4607	0.55731	0.0:0.9192:0.0:0.0808	.	281;281	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	Q	281	ENSP00000353007:R281Q;ENSP00000418290:R281Q;ENSP00000354662:R281Q;ENSP00000418442:R281Q	ENSP00000353007:R281Q	R	-	2	0	SULF2	45746628	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	4.784000	0.62411	2.489000	0.83994	0.537000	0.68136	CGG		0.627	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		4	9	0	0	0	1	0	4	9					T	46313221	C	T	46313221	3	4	498	1	0	0	0	0	1	0	0	0	15370	652	23	2	1834	2	SULF2	20	46313221	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	25795875	46313221	16712299	92	33052											
CCT8	10694	broad.mit.edu	37	chr21	30439889	30439889	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttgcctctgaaactgaCaggccaatcctcagaagttc	12	9	7	13	0	2	3	1	2	1	1	4	3	3	3	3	1	2	1	3	1	3	2			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr21:30439889C>G	ENST00000286788.4	-	4	575	c.369G>C	c.(367-369)ctG>ctC	p.L123L	CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Silent_p.L104L|CCT8_ENST00000540844.1_Silent_p.L50L	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	123					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						CTGAAACTGACAGGCCAATCC	0.358																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.(367-369)ctG>ctC		chaperonin containing TCP1, subunit 8 (theta)							59	55	57					21																	30439889		2203	4300	6503	SO:0001819	synonymous_variant	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30439889C>G	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"Heat Shock Proteins / Chaperonins"	1623	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 112"	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.369G>C	21.37:g.30439889C>G						CCT8_ENST00000542732.1_Silent_p.L104L|CCT8_ENST00000540844.1_Silent_p.L50L|CCT8_ENST00000470450.1_5'UTR	p.L123L	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			4	575	-			123					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Silent	SNP	ENST00000286788.4	37	c.369G>C	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	C	8.203	0.798672	0.16397	.	.	ENSG00000156261	ENST00000431234	.	.	.	5.55	0.145	0.14829	.	.	.	.	.	T	0.42720	0.1215	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21895	-1.0232	4	.	.	.	-8.38	2.5568	0.04762	0.3342:0.3981:0.1009:0.1669	.	.	.	.	S	115	.	.	C	-	2	0	CCT8	29361760	0.000000	0.05858	0.998000	0.56505	0.992000	0.81027	-2.004000	0.01461	0.038000	0.15604	0.655000	0.94253	TGT		0.358	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			12	35	0	0	0	1	0	12	35					G	30439889	C	G	30439889	2	3	498	1	0	0	0	0	0	0	0	1	2960	465	17	5		5	CCT8	21	30439889	Silent	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08		30439889	17690006	93	33053											
CCT8	10694	broad.mit.edu	37	chr21	30439992	30439992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctcttgcatatgagaaGccattacaatcatttttgca	11	15	6	9	0	2	1	1	1	1	1	2	2	2	1	1	0	5	3	1	0	4	6			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr21:30439992G>A	ENST00000286788.4	-	4	472	c.266C>T	c.(265-267)gCt>gTt	p.A89V	CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.A70V|CCT8_ENST00000540844.1_Missense_Mutation_p.A16V	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	89					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						CATATGAGAAGCCATTACAAT	0.388																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.(265-267)gCt>gTt		chaperonin containing TCP1, subunit 8 (theta)							89	84	85					21																	30439992		2203	4300	6503	SO:0001583	missense	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30439992G>A	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"Heat Shock Proteins / Chaperonins"	1623	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 112"	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.266C>T	21.37:g.30439992G>A	ENSP00000286788:p.Ala89Val					CCT8_ENST00000542732.1_Missense_Mutation_p.A70V|CCT8_ENST00000540844.1_Missense_Mutation_p.A16V|CCT8_ENST00000470450.1_5'UTR	p.A89V	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			4	472	-			89					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	ENST00000286788.4	37	c.266C>T	CCDS33528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.625653|5.625653	0.96671|0.96671	.|.	.|.	ENSG00000156261|ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844|ENST00000431234	T;T;T|.	0.79940|.	-1.32;-1.32;-1.32|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68915|0.68915	0.3053|0.3053	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.71674|.	0.998;0.988;0.998;0.998;0.995|.	D;D;D;D;P|.	0.73708|.	0.981;0.942;0.974;0.957;0.898|.	T|T	0.63301|0.63301	-0.6668|-0.6668	10|5	0.25106|.	T|.	0.35|.	-11.2948|-11.2948	19.8683|19.8683	0.96840|0.96840	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	16;70;89;89;89|.	B4DQH4;B4DEM7;Q53HU0;G5E9B2;P50990|.	.;.;.;.;TCPQ_HUMAN|.	V|F	89;89;70;16|81	ENSP00000286788:A89V;ENSP00000444984:A70V;ENSP00000442730:A16V|.	ENSP00000286788:A89V|.	A|L	-|-	2|1	0|0	CCT8|CCT8	29361863|29361863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.466000|9.466000	0.97665|0.97665	2.753000|2.753000	0.94483|0.94483	0.655000|0.655000	0.94253|0.94253	GCT|CTT		0.388	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			10	47	0	0	0	1	0	10	47					A	30439992	G	A	30439992	3	1	498	1	0	0	0	0	1	0	0	0	2960	971	34	3	1428	3	CCT8	21	30439992	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	103	30439992	17689903	94	33054											
MX2	4600	broad.mit.edu	37	chr21	42771265	42771268	+	Splice_Site	DEL	GTAA	GTAA	-																															tgcaactaatacccaaaaagGtaagttctgggcagggctcc																										TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr21:42771265_42771268delGTAA	ENST00000330714.3	+	10	1598		c.e10+1		MX2_ENST00000496774.1_Splice_Site	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2						cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				ACCCAAAAAGGTAAGTTCTGGGCA	0.456																																						ENST00000330714.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.e10+1		myxovirus (influenza virus) resistance 2 (mouse)																																				SO:0001630	splice_region_variant	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42771265_42771268delGTAA		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1414+1GTAA>-	21.37:g.42771265_42771268delGTAA						MX2_ENST00000496774.1_Splice_Site		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			10	1598	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)						B7Z5D3|D3DSI7	Splice_Site	DEL	ENST00000330714.3	37		CCDS13672.1																																																																																				0.456	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463	Intron	17	85						17	85	---	---	---	---	-	42771268	GTAA	-	42771265	8	5	498	1	0	1	0	1	0	0	1	0	9998	1275	44	0	1449	0	MX2	21	42771265	Splice_Site	DEL	GTAA	TCGA-ZG-A9NI-01A-11D-A41K-08	12331273	42771265	5358630	95	33055											
MCM3AP	8888	broad.mit.edu	37	chr21	47693423	47693423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagcactggcaagggcCgcagctcgtggggcaggggc	6	5	19	11	2	0	1	0	1	0	0	1	1	0	1	1	6	3	6	1	6	1	0			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr21:47693423C>T	ENST00000397708.1	-	8	2329	c.2075G>A	c.(2074-2076)cGg>cAg	p.R692Q	MCM3AP_ENST00000291688.1_Missense_Mutation_p.R692Q			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	692	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			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)					TGGCAAGGGCCGCAGCTCGTG	0.612																																						ENST00000397708.1																			0				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						c.(2074-2076)cGg>cAg		minichromosome maintenance complex component 3 associated protein							66	54	58					21																	47693423		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47693423C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2075G>A	21.37:g.47693423C>T	ENSP00000380820:p.Arg692Gln					MCM3AP_ENST00000291688.1_Missense_Mutation_p.R692Q	p.R692Q			O60318	MCM3A_HUMAN			8	2329	-	Breast(49;0.112)		692					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.2075G>A	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130780	0.94473	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.38560	1.13;1.13	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.76478	0.3993	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82170	-0.0590	10	0.87932	D	0	-33.0372	20.3932	0.98965	0.0:1.0:0.0:0.0	.	692	O60318	MCM3A_HUMAN	Q	692	ENSP00000380820:R692Q;ENSP00000291688:R692Q	ENSP00000291688:R692Q	R	-	2	0	MCM3AP	46517851	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	7.649000	0.83500	2.824000	0.97209	0.655000	0.94253	CGG		0.612	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		11	32	0	0	0	1	0	11	32					T	47693423	C	T	47693423	3	4	498	1	0	0	0	0	1	0	0	0	9388	652	23	2	3955	2	MCM3AP	21	47693423	Missense_Mutation	SNP	C	TCGA-ZG-A9NI-01A-11D-A41K-08	4922158	47693423	436472	96	33056											
PI4KA	5297	broad.mit.edu	37	chr22	21167790	21167790	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcccatcgggcaagcaGgaggctggtgggagataaag	11	5	17	8	1	0	1	0	0	0	1	2	3	1	2	1	5	1	4	1	5	3	1			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr22:21167790G>A	ENST00000572273.1	-	8	917	c.687C>T	c.(685-687)tcC>tcT	p.S229S	PI4KA_ENST00000255882.6_Silent_p.S287S			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	229					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			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)			CGGGCAAGCAGGAGGCTGGTG	0.517																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				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						c.(859-861)tcC>tcT		phosphatidylinositol 4-kinase, catalytic, alpha							56	58	57					22																	21167790		2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21167790G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.687C>T	22.37:g.21167790G>A						PI4KA_ENST00000572273.1_Silent_p.S229S	p.S287S	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		8	947	-	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)	229					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.861C>T																																																																																					0.517	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		3	31	0	0	0	1	0	3	31					A	21167790	G	A	21167790	2	1	498	1	0	0	0	0	0	0	0	1	11873	987	35	3		3	PI4KA	22	21167790	Silent	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08		21167790	30136776	97	33057											
NFAM1	150372	broad.mit.edu	37	chr22	42807644	42807644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactgtgaaaaccttgaattGgggagtgtatggataggtga	12	11	15	3	0	0	3	0	3	0	0	0	6	0	5	1	4	1	1	1	4	5	4			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr22:42807644G>T	ENST00000329021.5	-	2	257	c.220C>A	c.(220-222)Caa>Aaa	p.Q74K		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	74	Ig-like V-type.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cytokine production (GO:0001819)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of B cell differentiation (GO:0045577)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(3)	4						ACCTTGAATTGGGGAGTGTAT	0.542																																						ENST00000329021.5																			0				large_intestine(1)|lung(3)	4						c.(220-222)Caa>Aaa		NFAT activating protein with ITAM motif 1							142	127	132					22																	42807644		2203	4300	6503	SO:0001583	missense	150372				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	g.chr22:42807644G>T	BC038241	CCDS14034.1	22q13.2	2005-02-01			ENSG00000235568	ENSG00000235568			29872	protein-coding gene	gene with protein product		608740				12615919	Standard	NM_145912		Approved	CNAIP	uc003bcn.4	Q8NET5	OTTHUMG00000150923	ENST00000329021.5:c.220C>A	22.37:g.42807644G>T	ENSP00000333680:p.Gln74Lys						p.Q74K	NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN			2	257	-			74			Ig-like V-type.		B0QYD0|Q20WL2|Q5JZ96|Q8IUY8|Q8TEM8	Missense_Mutation	SNP	ENST00000329021.5	37	c.220C>A	CCDS14034.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.566073	0.00903	.	.	ENSG00000235568	ENST00000329021	T	0.41400	1.0	4.79	-9.58	0.00559	Immunoglobulin subtype (1);	3.801110	0.02020	N	0.047692	T	0.16599	0.0399	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25152	-1.0140	10	0.05833	T	0.94	2.1107	10.4868	0.44726	0.0:0.1327:0.2616:0.6056	.	74	Q8NET5	NFAM1_HUMAN	K	74	ENSP00000333680:Q74K	ENSP00000333680:Q74K	Q	-	1	0	NFAM1	41137588	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-6.877000	0.00051	-3.410000	0.00169	-0.479000	0.04858	CAA		0.542	NFAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320541.1	NM_145912		5	58	1	0	0.0215528	1	0.022125	5	58					T	42807644	G	T	42807644	3	4	498	1	0	0	0	0	1	0	0	0	10358	1357	47	5	612	5	NFAM1	22	42807644	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	21639854	42807644	8496922	98	33058											
MXRA5	25878	broad.mit.edu	37	chrX	3240713	3240713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcattaacccagatggtggGggttggagtaaggtgtgcaa	10	10	16	5	0	1	1	1	0	0	1	1	2	1	2	1	5	2	3	1	5	3	3			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chrX:3240713G>T	ENST00000217939.6	-	5	3167	c.3013C>A	c.(3013-3015)Ccc>Acc	p.P1005T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1005						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGATGGTGGGGGTTGGAGTA	0.463																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(3013-3015)Ccc>Acc		matrix-remodelling associated 5							189	149	162					X																	3240713		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240713G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3013C>A	X.37:g.3240713G>T	ENSP00000217939:p.Pro1005Thr						p.P1005T	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	3167	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1005					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3013C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	2.033	-0.422021	0.04734	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.61980	0.06	3.33	1.44	0.22558	.	0.899723	0.09141	N	0.842904	T	0.40839	0.1133	N	0.17082	0.46	0.09310	N	1	B	0.17465	0.022	B	0.14578	0.011	T	0.23833	-1.0177	10	0.21014	T	0.42	.	5.4309	0.16452	0.1109:0.0:0.6898:0.1993	.	1005	Q9NR99	MXRA5_HUMAN	T	1005	ENSP00000217939:P1005T	ENSP00000217939:P1005T	P	-	1	0	MXRA5	3250713	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.006000	0.12833	0.402000	0.25451	0.529000	0.55759	CCC		0.463	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		16	39	1	0	6.94344e-10	1	8.5685e-10	16	39					T	3240713	G	T	3240713	3	4	498	1	0	0	0	0	1	0	0	0	10003	1232	43	5	5485	5	MXRA5	23	3240713	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08		3240713	152029847	99	33059											
CXorf58	254158	broad.mit.edu	37	chrX	23956757	23956757	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgatccaagcaagctcaaatGaaagttgaaaaaatgagaaa	21	6	8	6	1	1	3	1	3	0	1	2	5	2	3	1	0	2	3	1	0	8	1			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chrX:23956757G>C	ENST00000379211.3	+	8	1428	c.879G>C	c.(877-879)atG>atC	p.M293I		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	293										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AAGCTCAAATGAAAGTTGAAA	0.348																																						ENST00000379211.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						c.(877-879)atG>atC		chromosome X open reading frame 58							88	88	88					X																	23956757		2203	4300	6503	SO:0001583	missense	254158							g.chrX:23956757G>C	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.879G>C	X.37:g.23956757G>C	ENSP00000368511:p.Met293Ile						p.M293I	NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN			8	1428	+			293						Missense_Mutation	SNP	ENST00000379211.3	37	c.879G>C	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	G	4.993	0.184368	0.09495	.	.	ENSG00000165182	ENST00000379211	T	0.28895	1.59	4.76	1.93	0.25924	.	0.581928	0.16245	N	0.222976	T	0.22742	0.0549	L	0.51422	1.61	0.09310	N	1	B;B	0.17268	0.021;0.009	B;B	0.16289	0.015;0.013	T	0.17471	-1.0368	10	0.33141	T	0.24	-7.9627	3.9324	0.09292	0.096:0.1598:0.5766:0.1676	.	293;293	B7ZLS7;Q96LI9	.;CX058_HUMAN	I	293	ENSP00000368511:M293I	ENSP00000368511:M293I	M	+	3	0	CXorf58	23866678	0.228000	0.23718	0.028000	0.17463	0.481000	0.33189	0.147000	0.16202	0.518000	0.28383	0.523000	0.50628	ATG		0.348	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		22	20	0	0	0	1	0	22	20					C	23956757	G	C	23956757	3	2	498	1	0	0	0	0	1	0	0	0	4114	1290	45	5	905	5	CXorf58	23	23956757	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	20716044	23956757	131313803	100	33060											
MAOB	4129	broad.mit.edu	37	chrX	43655005	43655005	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcatacatctcatggtttAgggtctccacaaggacattt	10	13	7	11	0	3	0	2	0	2	0	5	1	3	1	2	3	1	1	2	3	3	4			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chrX:43655005A>C	ENST00000378069.4	-	7	896	c.749T>G	c.(748-750)cTa>cGa	p.L250R	MAOB_ENST00000487544.1_5'Flank|MAOB_ENST00000538942.1_Missense_Mutation_p.L234R|MAOB_ENST00000536181.1_Missense_Mutation_p.L234R	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	250					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	CTCATGGTTTAGGGTCTCCAC	0.418																																						ENST00000378069.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21						c.(748-750)cTa>cGa		monoamine oxidase B	Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)						162	135	144					X																	43655005		2203	4300	6503	SO:0001583	missense	4129				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	g.chrX:43655005A>C		CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.749T>G	X.37:g.43655005A>C	ENSP00000367309:p.Leu250Arg					MAOB_ENST00000538942.1_Missense_Mutation_p.L234R|MAOB_ENST00000536181.1_Missense_Mutation_p.L234R	p.L250R	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN			7	896	-			250					B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	ENST00000378069.4	37	c.749T>G	CCDS14261.1	.	.	.	.	.	.	.	.	.	.	A	6.862	0.528414	0.13127	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	D;D;D	0.92595	-3.07;-3.07;-3.07	5.29	5.29	0.74685	Amine oxidase (1);	0.150792	0.46145	D	0.000304	D	0.87120	0.6098	L	0.41415	1.275	0.58432	D	0.999995	B;B	0.33044	0.395;0.186	B;B	0.31101	0.124;0.109	D	0.84547	0.0642	10	0.16420	T	0.52	-9.8744	14.5308	0.67923	1.0:0.0:0.0:0.0	.	234;250	B7Z5H3;P27338	.;AOFB_HUMAN	R	250;234;234	ENSP00000367309:L250R;ENSP00000441613:L234R;ENSP00000442240:L234R	ENSP00000367309:L250R	L	-	2	0	MAOB	43539949	0.942000	0.31987	0.979000	0.43373	0.323000	0.28346	8.496000	0.90485	1.880000	0.54463	0.430000	0.28490	CTA		0.418	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898		16	24	0	0	0	1	0	16	24					C	43655005	A	C	43655005	3	2	498	1	0	0	0	0	1	0	0	0	9226	420	15	5	849	5	MAOB	23	43655005	Missense_Mutation	SNP	A	TCGA-ZG-A9NI-01A-11D-A41K-08	19698248	43655005	111615555	101	33061											
CXorf56	63932	broad.mit.edu	37	chrX	118678353	118678353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttctgagtatatatgttcGttttcccaaagccctggcca	8	15	8	10	1	1	1	0	1	1	0	3	1	2	1	3	1	1	4	3	1	4	7			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chrX:118678353G>A	ENST00000371594.4	-	4	464	c.386C>T	c.(385-387)aCg>aTg	p.T129M	CXorf56_ENST00000320339.4_Missense_Mutation_p.T80M|CXorf56_ENST00000536133.1_Missense_Mutation_p.T115M|CXorf56_ENST00000469448.1_5'Flank	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	129										cervix(1)|endometrium(2)|lung(7)	10						ATATATGTTCGTTTTCCCAAA	0.423																																						ENST00000320339.4																			0				cervix(1)|endometrium(2)|lung(7)	10						c.(238-240)aCg>aTg		chromosome X open reading frame 56							128	110	116					X																	118678353		2203	4300	6503	SO:0001583	missense	63932						protein binding	g.chrX:118678353G>A	AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.386C>T	X.37:g.118678353G>A	ENSP00000360652:p.Thr129Met					CXorf56_ENST00000486230.1_Missense_Mutation_p.T129M|CXorf56_ENST00000371594.4_Missense_Mutation_p.T129M|CXorf56_ENST00000476164.1_Missense_Mutation_p.T129M|CXorf56_ENST00000536133.1_Missense_Mutation_p.T115M	p.T80M	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN			4	510	-			129					A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Missense_Mutation	SNP	ENST00000371594.4	37	c.239C>T	CCDS14579.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.856904	0.51376	.	.	ENSG00000018610	ENST00000486230;ENST00000320339;ENST00000371594;ENST00000536133;ENST00000476164	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.19087	0.0458	L	0.36672	1.1	0.80722	D	1	P;P	0.41929	0.765;0.765	B;B	0.30572	0.117;0.117	T	0.04140	-1.0974	10	0.46703	T	0.11	-16.2225	16.069	0.80909	0.0:0.0:1.0:0.0	.	115;129	F5GWL7;Q9H5V9	.;CX056_HUMAN	M	129;80;129;115;129	ENSP00000420787:T129M;ENSP00000320345:T80M;ENSP00000360652:T129M;ENSP00000441786:T115M;ENSP00000420635:T129M	ENSP00000320345:T80M	T	-	2	0	CXorf56	118562381	1.000000	0.71417	0.863000	0.33907	0.868000	0.49771	8.959000	0.93110	1.987000	0.57996	0.544000	0.68410	ACG		0.423	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022101		28	66	0	0	0	1	0	28	66					A	118678353	G	A	118678353	3	1	498	1	0	0	0	0	1	0	0	0	4112	1145	40	1	298	1	CXorf56	23	118678353	Missense_Mutation	SNP	G	TCGA-ZG-A9NI-01A-11D-A41K-08	75023348	118678353	36592207	102	33062											
